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Previous release (v1)
2025-12-08 10:47:50, GGRNA.v2 : RefSeq release 232 (Sep, 2025)
LOCUS NM_000701 3670 bp mRNA linear PRI 27-APR-2025
DEFINITION Homo sapiens ATPase Na+/K+ transporting subunit alpha 1 (ATP1A1),
transcript variant 1, mRNA.
ACCESSION NM_000701
VERSION NM_000701.8
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3670)
AUTHORS Cerella,C., Gajulapalli,S.R., Lorant,A., Gerard,D., Muller,F.,
Lee,Y., Kim,K.R., Han,B.W., Christov,C., Recher,C., Sarry,J.E.,
Dicato,M. and Diederich,M.
TITLE ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic
acute myeloid leukemia to cardiac glycosides
JOURNAL Leukemia 38 (1), 67-81 (2024)
PUBMED 37904054
REMARK GeneRIF: ATP1A1/BCL2L1 predicts the response of myelomonocytic and
monocytic acute myeloid leukemia to cardiac glycosides.
REFERENCE 2 (bases 1 to 3670)
AUTHORS Spontarelli,K., Young,V.C., Sweazey,R., Padro,A., Lee,J., Bueso,T.,
Hernandez,R.M., Kim,J., Katz,A., Rossignol,F., Turner,C.,
Wilczewski,C.M., Maxwell,G.L., Holmgren,M., Bailoo,J.D., Yano,S.T.
and Artigas,P.
TITLE ATP1A1-linked diseases require a malfunctioning protein product
from one allele
JOURNAL Biochim Biophys Acta Mol Cell Res 1871 (1), 119572 (2024)
PUBMED 37659504
REMARK GeneRIF: ATP1A1-linked diseases require a malfunctioning protein
product from one allele.
REFERENCE 3 (bases 1 to 3670)
AUTHORS Silkuniene,G., Mangalanathan,U.M., Pakhomov,A.G. and Pakhomova,O.N.
TITLE Silencing of ATP1A1 attenuates cell membrane disruption by
nanosecond electric pulses
JOURNAL Biochem Biophys Res Commun 677, 93-97 (2023)
PUBMED 37566922
REMARK GeneRIF: Silencing of ATP1A1 attenuates cell membrane disruption by
nanosecond electric pulses.
REFERENCE 4 (bases 1 to 3670)
AUTHORS Sumiyoshi,S., Shiozaki,A., Kosuga,T., Simizu,H., Kudo,M.,
Kiuchi,J., Arita,T., Konishi,H., Komatsu,S., Kuriu,Y., Kubota,T.,
Fujiwara,H., Morinaga,Y., Konishi,E. and Otsuji,E.
TITLE Functional Analysis and Clinical Importance of ATP1A1 in Colon
Cancer
JOURNAL Ann Surg Oncol 30 (11), 6898-6910 (2023)
PUBMED 37407874
REMARK GeneRIF: Functional Analysis and Clinical Importance of ATP1A1 in
Colon Cancer.
REFERENCE 5 (bases 1 to 3670)
AUTHORS Rajan,P.K., Udoh,U.S., Nakafuku,Y., Pierre,S.V. and Sanabria,J.
TITLE Normalization of the ATP1A1 Signalosome Rescinds Epigenetic
Modifications and Induces Cell Autophagy in Hepatocellular
Carcinoma
JOURNAL Cells 12 (19), 2367 (2023)
PUBMED 37830582
REMARK GeneRIF: Normalization of the ATP1A1 Signalosome Rescinds
Epigenetic Modifications and Induces Cell Autophagy in
Hepatocellular Carcinoma.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 3670)
AUTHORS Shull,M.M., Pugh,D.G. and Lingrel,J.B.
TITLE The human Na, K-ATPase alpha 1 gene: characterization of the
5'-flanking region and identification of a restriction fragment
length polymorphism
JOURNAL Genomics 6 (3), 451-460 (1990)
PUBMED 1970326
REFERENCE 7 (bases 1 to 3670)
AUTHORS Lingrel,J.B., Orlowski,J., Shull,M.M. and Price,E.M.
TITLE Molecular genetics of Na,K-ATPase
JOURNAL Prog Nucleic Acid Res Mol Biol 38, 37-89 (1990)
PUBMED 2158121
REMARK Review article
REFERENCE 8 (bases 1 to 3670)
AUTHORS Yang-Feng,T.L., Schneider,J.W., Lindgren,V., Shull,M.M., Benz,E.J.
Jr., Lingrel,J.B. and Francke,U.
TITLE Chromosomal localization of human Na+, K+-ATPase alpha- and
beta-subunit genes
JOURNAL Genomics 2 (2), 128-138 (1988)
PUBMED 2842249
REFERENCE 9 (bases 1 to 3670)
AUTHORS Sverdlov,E.D., Broude,N.E., Sverdlov,V.E., Monastyrskaya,G.S.,
Grishin,A.V., Petrukhin,K.E., Akopyanz,N.S., Modyanov,N.N. and
Ovchinnikov,Yu.A.
TITLE Family of Na+,K+-ATPase genes. Intra-individual tissue-specific
restriction fragment length polymorphism
JOURNAL FEBS Lett 221 (1), 129-133 (1987)
PUBMED 2887455
REMARK Erratum:[FEBS Lett 1988 Jan 18;227(1):85]
REFERENCE 10 (bases 1 to 3670)
AUTHORS Kawakami,K., Ohta,T., Nojima,H. and Nagano,K.
TITLE Primary structure of the alpha-subunit of human Na,K-ATPase deduced
from cDNA sequence
JOURNAL J Biochem 100 (2), 389-397 (1986)
PUBMED 2430951
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC335233.1 and BC050359.1.
This sequence is a reference standard in the RefSeqGene project.
On Nov 22, 2018 this sequence version replaced NM_000701.7.
Summary: The protein encoded by this gene belongs to the family of
P-type cation transport ATPases, and to the subfamily of Na+/K+
-ATPases. Na+/K+ -ATPase is an integral membrane protein
responsible for establishing and maintaining the electrochemical
gradients of Na and K ions across the plasma membrane. These
gradients are essential for osmoregulation, for sodium-coupled
transport of a variety of organic and inorganic molecules, and for
electrical excitability of nerve and muscle. This enzyme is
composed of two subunits, a large catalytic subunit (alpha) and a
smaller glycoprotein subunit (beta). The catalytic subunit of
Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an
alpha 1 subunit. Multiple transcript variants encoding different
isoforms have been found for this gene. [provided by RefSeq, May
2009].
Transcript Variant: This variant (1) represents use of an alternate
promoter and 5' exon, compared to variant 3. The resulting isoform
(a) is the same length but has a distinct N-terminus, compared to
isoform c.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC050359.1, SRR11853565.1514.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1966682
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000295598.10/ ENSP00000295598.5
RefSeq Select criteria :: based on conservation, expression,
longest protein
##RefSeq-Attributes-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-191 DC335233.1 72-262
192-3670 BC050359.1 174-3652
FEATURES Location/Qualifiers
source 1..3670
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p13.1"
gene 1..3670
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="ATPase Na+/K+ transporting subunit alpha 1"
/db_xref="GeneID:476"
/db_xref="HGNC:HGNC:799"
/db_xref="MIM:182310"
exon 1..280
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 1
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1469044010"
variation 2..30
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gagc"
/replace="gagctgcggcggggtctggggcgcagagc"
/replace="gagctgcggcggggtctggggcgcagagctgcggcggggtctggggcg
cagagc"
/db_xref="dbSNP:1570935533"
variation 2
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:950716679"
variation 3
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:985180202"
variation 4..23
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gctgcggcggggtctggggc"
/replace="gctgcggcggggtctggggctgcggcggggtctggggc"
/db_xref="dbSNP:1651097240"
variation 5
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1356236792"
variation 6
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:909236568"
variation 7..39
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gcggcggg"
/replace="gcggcggggtctggggcgcagagcagcggcggg"
/replace="gcggcggggtctggggcgcagagcagcggcggggtctggggcgcagag
cagcggcggg"
/db_xref="dbSNP:913452301"
variation 7
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651097608"
variation 8
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1286994035"
variation 9
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1182303143"
variation 11
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525766433"
variation 12
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1461117775"
variation 13
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1488784101"
variation 14
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:970542100"
variation 15
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1216365889"
variation 16
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1022471114"
variation 19
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1396818402"
variation 20
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1017357318"
variation 21
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:771724616"
variation 22
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:536076080"
variation 23
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:975967500"
variation 24
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525766484"
variation 25
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:939187658"
variation 26
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1338433279"
variation 27
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:850621"
variation 28
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570935628"
variation 29
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525766545"
variation 30
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525766548"
variation 31
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1352976570"
variation 32
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:923221277"
variation 33
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:557618197"
variation 34
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:929229129"
variation 35
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525766724"
variation 36
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101024627"
variation 37
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1056369285"
variation 38..45
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggagg"
/replace="ggaggagg"
/db_xref="dbSNP:1651102494"
variation 39
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1444539437"
variation 40
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:968274963"
variation 41
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557775626"
variation 45
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:765782468"
variation 46
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651103400"
variation 47
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525766794"
variation 48
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525766797"
variation 49
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651103565"
variation 50
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651103727"
variation 51
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1651103875"
variation 52
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525766806"
variation 53
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1441554199"
variation 54
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1651104834"
variation 55
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1382105553"
variation 56..58
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gca"
/replace="gcagca"
/db_xref="dbSNP:1651105343"
variation 56
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525766873"
variation 61
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651105493"
variation 63
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1185803773"
variation 64
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1325023791"
variation 67
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1479895032"
variation 68
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1651106180"
variation 69
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525767139"
variation 71
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:908873392"
variation 72
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651106532"
variation 73
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:945337230"
variation 74
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1297425168"
variation 75
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:941757414"
variation 76..103
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggcggcggcagcaacagcggcggcggca"
/replace="ggcggcggcagcaacagcggcggcggcagcaacagcggcggcggca"
/db_xref="dbSNP:1553188793"
variation 76..84
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggcggcggc"
/replace="ggcggcggcggc"
/db_xref="dbSNP:1651107313"
variation 76
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651107182"
variation 77..99
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gcggcggc"
/replace="gcggcggcagcaacagcggcggc"
/replace="gcggcggcagcaacagcggcggcagcaacagcggcggc"
/db_xref="dbSNP:1553188794"
variation 80..151
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gcggcagc"
/replace="gcggcagcaacagcggcggcggcatcggcccgagccgccggccgccct
cccaccctcccgccccgcggcagc"
/db_xref="dbSNP:2525767404"
variation 81
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1044204069"
variation 82
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1043783102"
variation 83
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1056716492"
variation 84..93
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="cagcaacagc"
/replace="cagcaacagcaacagc"
/db_xref="dbSNP:1297757744"
variation 84
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651108506"
variation 86
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1443231991"
variation 87
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:903553112"
variation 88
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1010250764"
variation 89
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1339908294"
variation 90..93
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="cagc"
/replace="cagcagc"
/db_xref="dbSNP:1386389326"
variation 90
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525767467"
variation 91
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1242705597"
variation 92..102
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gcggc"
/replace="gcggcggc"
/replace="gcggcggcggc"
/replace="gcggcggcggcggc"
/db_xref="dbSNP:1166029057"
variation 92..94
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gcg"
/replace="gcgcg"
/db_xref="dbSNP:1553188801"
variation 92
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651109866"
variation 93
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651110409"
variation 94
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1470948305"
variation 95..114
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gc"
/replace="gcggcggcatcggcccgagc"
/db_xref="dbSNP:2525767516"
variation 96
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651110763"
variation 97
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651110917"
variation 98
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:943077264"
variation 99
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1038760823"
variation 102
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1293782745"
variation 103..104
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="gcaacagcg"
/db_xref="dbSNP:2525767589"
variation 103
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651111608"
variation 104
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651111734"
variation 105
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570935751"
variation 106
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1000897291"
variation 108
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525767612"
variation 109
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1284378863"
variation 110
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:901995617"
variation 111
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570935765"
variation 112
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525767630"
variation 113
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651112819"
variation 114
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1307412825"
variation 115
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651113157"
variation 116
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1017682364"
variation 117..126
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccggccgccc"
/replace="ccggccgcccggccgccc"
/db_xref="dbSNP:1651113841"
variation 117
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1487093337"
variation 118
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:997651479"
variation 119
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1232136648"
variation 121..142
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccgccc"
/replace="ccgccctcccaccctcccgccc"
/db_xref="dbSNP:1651114654"
variation 121..130
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccgccctccc"
/replace="ccgccctcccgccctccc"
/db_xref="dbSNP:964502868"
variation 121
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525767669"
variation 123..154
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gccctcccaccctcccgccccgcggcagccct"
/replace="gccctcccaccctcccgccccgcggcagccctcccaccctcccgcccc
gcggcagccct"
/db_xref="dbSNP:1651115089"
variation 123
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:975860892"
variation 124..164
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccctcc"
/replace="ccctcccaccctcccgccccgcggcagccctagctccctcc"
/db_xref="dbSNP:2525767713"
variation 124..138
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccctccc"
/replace="ccctcccaccctccc"
/replace="ccctcccaccctcccaccctccc"
/db_xref="dbSNP:1651115561"
variation 124..130
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccc"
/replace="ccctccc"
/db_xref="dbSNP:2525767704"
variation 124..126
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccc"
/replace="cccaacccc"
/replace="cccaaccccccccc"
/replace="cccaacccccccccc"
/replace="cccagccccc"
/replace="cccagccccccccc"
/replace="cccggccccccccc"
/db_xref="dbSNP:rs2525767695"
variation 124
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540946"
variation 125..126
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="cc"
/replace="ccaacc"
/replace="ccagcc"
/db_xref="dbSNP:2525767720"
variation 125
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651115768"
variation 126..127
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="a"
/replace="gg"
/db_xref="dbSNP:2525767741"
variation 126
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cggc"
/db_xref="dbSNP:2525767732"
variation 126
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651115939"
variation 127..128
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="a"
/replace="acc"
/replace="accc"
/replace="acccc"
/replace="accccccc"
/replace="g"
/replace="gcc"
/replace="gccc"
/replace="gcccc"
/replace="gccccccc"
/replace="gcccccccccc"
/replace="gccccccccccc"
/replace="gccccccccccccc"
/replace="ggc"
/replace="tcc"
/replace="tccc"
/replace="tcccc"
/replace="tccccccc"
/replace="tg"
/replace="tgc"
/db_xref="dbSNP:rs2101024868"
variation 127
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="t"
/db_xref="dbSNP:2525767764"
variation 127
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1007805597"
variation 127
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="t"
/replace="tt"
/db_xref="dbSNP:2525767755"
variation 128..134
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="cccaccc"
/db_xref="dbSNP:2525767820"
variation 128..130
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="ccc"
/db_xref="dbSNP:2525767814"
variation 128..130
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccc"
/replace="cccc"
/replace="ccccccc"
/replace="cccccccc"
/db_xref="dbSNP:2525767803"
variation 128
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1030598242"
variation 129
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1026467310"
variation 130
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525767839"
variation 131
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1017888587"
variation 132..164
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="cc"
/replace="ccctcccgccccgcggcagccctagctccctcc"
/db_xref="dbSNP:2525767854"
variation 132..134
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccc"
/replace="ccccccc"
/db_xref="dbSNP:2525767849"
variation 132
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1469247326"
variation 133
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:886670675"
variation 134..135
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="a"
/replace="ccccccccccccccccccccccca"
/db_xref="dbSNP:2525767920"
variation 134
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1260371459"
variation 135
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1426191119"
variation 136
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1194765456"
variation 138
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525767939"
variation 139
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1373280805"
variation 140
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1460658196"
variation 142
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:950625112"
variation 143
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1006510759"
variation 144..150
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="gcggcag"
/db_xref="dbSNP:2525767977"
variation 144..148
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gc"
/replace="gcggc"
/db_xref="dbSNP:2525767972"
variation 144
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="g"
/db_xref="dbSNP:1651119374"
variation 144
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1396430310"
variation 145..146
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="tt"
/db_xref="dbSNP:1651119563"
variation 146
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2101024916"
variation 147
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651119753"
variation 148..149
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="ca"
/db_xref="dbSNP:2525768003"
variation 148
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1461852823"
variation 149
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="a"
/db_xref="dbSNP:2525768016"
variation 149
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525768009"
variation 151
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1261307298"
variation 152
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1016646550"
variation 154
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525768037"
variation 155
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525768045"
variation 156
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1651120487"
variation 157
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557775760"
variation 158
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525768055"
variation 159
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651120834"
variation 160
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525768195"
variation 161
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525768197"
variation 162
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:746520392"
variation 163
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525768208"
variation 164
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:770241535"
variation 165
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525768322"
variation 166..177
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ct"
/replace="cttggctcccct"
/db_xref="dbSNP:1651121422"
variation 166
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525768326"
variation 167
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651121577"
variation 169
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651121725"
variation 170
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:983783424"
variation 171
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:970087903"
variation 172
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1296458192"
variation 173..176
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccc"
/replace="cccc"
/db_xref="dbSNP:2525768359"
variation 173
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651122198"
variation 175
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1309560196"
variation 177
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:980161595"
variation 178
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1651122524"
variation 179..184
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gtcccg"
/replace="gtcccgtcccg"
/db_xref="dbSNP:2525768383"
variation 179
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1651122618"
variation 181
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:908873536"
variation 182
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:776040306"
variation 183
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:763248395"
variation 186
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1231687837"
variation 187
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:764477531"
variation 188
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1335937976"
variation 189
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1261420230"
variation 191
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540947"
variation 192
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1651123906"
variation 193
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525768434"
variation 194
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1259466683"
variation 195
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:761965769"
variation 196
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1187759790"
variation 199
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:546221648"
variation 200
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525768466"
variation 201
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:850599"
variation 203
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1380647861"
variation 204..207
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ct"
/replace="ctct"
/db_xref="dbSNP:2525768489"
variation 204
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1185378954"
variation 207
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525768493"
variation 208
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525768498"
variation 209
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1290033031"
variation 211
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:760788037"
variation 212..215
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ttt"
/replace="tttt"
/replace="ttttt"
/db_xref="dbSNP:927056992"
variation 212
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:766251701"
variation 213
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525768547"
variation 214
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525768552"
variation 215..221
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tct"
/replace="tctct"
/replace="tctctct"
/db_xref="dbSNP:746508079"
variation 215
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525768560"
variation 216
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:2525768571"
variation 216
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:552247746"
variation 218
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:558131244"
variation 220
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540948"
misc_feature 221..223
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="upstream in-frame stop codon"
variation 221
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525768588"
variation 221
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="t"
/replace="tt"
/db_xref="dbSNP:138094130"
variation 222
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1289453986"
variation 226
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:866067530"
variation 228
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1035791490"
variation 229
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525768605"
variation 230
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1431025124"
variation 231
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1651127276"
variation 232
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651127391"
variation 233
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:960140606"
variation 235
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1378262542"
variation 236
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557775838"
variation 237
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1374939102"
variation 239
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525768648"
variation 240
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:191795671"
variation 241
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1262270677"
variation 242
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:850600"
variation 243
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1295380120"
variation 244
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1356393993"
variation 245
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:778797053"
variation 246
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1305396793"
variation 247
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1319187699"
variation 248
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:991974675"
variation 249
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:752531715"
variation 250
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525768877"
variation 251
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1286051576"
variation 253
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525768881"
variation 254
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:850601"
variation 255
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1242321079"
variation 256
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1208152631"
variation 258
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525768912"
variation 259
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1204119246"
variation 260
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525768925"
variation 262
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:758187423"
variation 263
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1483404458"
variation 264
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:777532956"
variation 266
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1651130859"
variation 267
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525768959"
variation 268
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1258057798"
CDS 269..3340
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/EC_number="7.2.2.13"
/note="isoform a is encoded by transcript variant 1; Na,
K-ATPase, alpha-A catalytic polypeptide; Na+/K+ ATPase 1;
sodium-potassium-ATPase, alpha 1 polypeptide;
sodium/potassium-transporting ATPase subunit alpha-1;
Na,K-ATPase alpha-1 subunit; Na,K-ATPase catalytic subunit
alpha-A protein; sodium pump subunit alpha-1; Na(+)/K(+)
ATPase alpha-1 subunit; sodium-potassium ATPase catalytic
subunit alpha-1; ATPase, Na+/K+ transporting, alpha 1
polypeptide"
/codon_start=1
/product="sodium/potassium-transporting ATPase subunit
alpha-1 isoform a"
/protein_id="NP_000692.2"
/db_xref="CCDS:CCDS887.1"
/db_xref="GeneID:476"
/db_xref="HGNC:HGNC:799"
/db_xref="MIM:182310"
/translation="
MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY"
misc_feature 269..385
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
misc_feature 293..295
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="N6-acetyllysine.
/evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
UniProtKB/Swiss-Prot (P05023.1); acetylation site"
misc_feature 296..298
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphotyrosine.
/evidence=ECO:0000250|UniProtKB:P06685; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 314..316
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 329..331
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="N6-acetyllysine.
/evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
UniProtKB/Swiss-Prot (P05023.1); acetylation site"
misc_feature 356..3337
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="sodium or proton efflux -- potassium uptake
antiporter, P-type ATPase, alpha subunit; Region:
ATPase-IIC_X-K; TIGR01106"
/db_xref="CDD:273445"
misc_feature 386..388
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:P06685; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 407..409
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:P06685; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 512..520
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
Region: Phosphoinositide-3 kinase binding.
/evidence=ECO:0000250"
misc_feature 530..592
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 662..724
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 914..973
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
misc_feature 950..952
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 1046..1048
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphotyrosine.
/evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 1133..1192
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 1229..1282
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 1622..1624
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:P06685; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 1718..1720
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:P06685; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 1892..1894
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphotyrosine.
/evidence=ECO:0007744|PubMed:19690332; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 2054..2419
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
Region: Mediates interaction with SCN7A.
/evidence=ECO:0000250|UniProtKB:Q8VDN2"
misc_feature 2270..2272
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 2291..2293
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 2585..2644
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 2675..2737
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 2798..2866
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 3023..3082
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 3095..3097
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="Phosphoserine, by PKA.
/evidence=ECO:0000250|UniProtKB:P06685; propagated from
UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
misc_feature 3122..3178
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
misc_feature 3224..3286
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="propagated from UniProtKB/Swiss-Prot (P05023.1);
transmembrane region"
variation 269
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525769141"
variation 270
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651131075"
variation 271
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1225322007"
variation 272
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525769158"
variation 276
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:976510541"
variation 277
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:913776275"
variation 278
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1307008508"
variation 279
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525769184"
variation 280
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651131762"
exon 281..391
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 281
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:756724088"
variation 282
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:780694923"
variation 285
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807196"
variation 286
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525807202"
variation 287
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1429384765"
variation 288
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:146195513"
variation 290
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:745357199"
variation 291
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1218878696"
variation 293
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:769191909"
variation 295
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525807251"
variation 297
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651912051"
variation 298
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525807274"
variation 299
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807282"
variation 300
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807298"
variation 301
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525807307"
variation 302
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525807316"
variation 304
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1405734237"
variation 305
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807331"
variation 306
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525807337"
variation 307
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1060366"
variation 308
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807372"
variation 310
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525807387"
variation 311
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651915565"
variation 314
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:111860221"
variation 316
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1290482649"
variation 320
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525807428"
variation 321
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101037917"
variation 322
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1249533164"
variation 323
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1446413621"
variation 326
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:11540944"
variation 328
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1489463687"
variation 329..351
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="aaaaagggcaaaaa"
/replace="aaaaagggcaaaaagggcaaaaa"
/replace="aaaaagggcaaaaagggcaaaaagggcaaaaa"
/db_xref="dbSNP:769658184"
variation 330
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525807493"
variation 333
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807499"
variation 334
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:756175297"
variation 336
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:772388569"
variation 337
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1266476946"
variation 339
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525807525"
variation 340
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807532"
variation 341
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525807536"
variation 343..346
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="gggc"
/db_xref="dbSNP:1479348932"
variation 344
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807553"
variation 345
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525807560"
variation 347..352
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="aaaaaa"
/replace="aaaaaaa"
/replace="aaaaaaaaaa"
/db_xref="dbSNP:1196026923"
variation 347
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:906254720"
variation 348
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:985672025"
variation 349
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807585"
variation 353
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="g"
/db_xref="dbSNP:773133722"
variation 355
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525807599"
variation 357
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807607"
variation 358
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:773312833"
variation 359
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525807624"
variation 361
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:939137125"
variation 362
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807642"
variation 364
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651920402"
variation 367
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525807667"
variation 368
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1245475227"
variation 370
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525807680"
variation 371
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374495510"
variation 373
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1164247399"
variation 375
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807703"
variation 383
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525807713"
variation 386
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525807722"
variation 388
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:761030948"
variation 389
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1384870128"
exon 392..451
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 394
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1311327658"
variation 395
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1217480321"
variation 397
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1354383018"
variation 398
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525811261"
variation 403
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:758779187"
variation 408
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:12564026"
variation 409
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200260779"
variation 410
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525811313"
variation 411
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1553190285"
variation 412
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525811327"
variation 413
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:778261406"
variation 415
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1651973996"
variation 416
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1386911088"
variation 422
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1347327000"
variation 423
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525811413"
variation 425
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:747334872"
variation 426
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:369738549"
variation 433
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:566640605"
variation 438
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525811473"
variation 439
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1651975173"
variation 443
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525811573"
variation 444
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101038960"
variation 445
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1184491104"
variation 446
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525811602"
variation 449
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1651975517"
variation 450
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:755576753"
variation 451
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:769951484"
exon 452..655
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 459
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1158326714"
variation 460
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652164239"
variation 462..466
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ct"
/replace="ctgct"
/db_xref="dbSNP:1652164406"
variation 462
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525823200"
variation 465
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:923288032"
variation 466
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="t"
/db_xref="dbSNP:2101042564"
variation 466
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146003963"
variation 467
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:764680790"
variation 468
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1159387961"
variation 470
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525823251"
variation 471
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1286662752"
variation 475
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101042584"
variation 481
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1375065531"
variation 485
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652165994"
variation 486
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:751968061"
variation 487
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:147430340"
variation 488
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1380390773"
variation 489
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:564786229"
variation 491
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1305466076"
variation 492
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525823354"
variation 493
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525823365"
variation 497
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823375"
variation 498
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823382"
variation 501
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1421893391"
variation 502
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1356540514"
variation 503
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1004452127"
variation 505
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652167780"
variation 508
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823428"
variation 509
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:958115046"
variation 510
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:974563697"
variation 514
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:756472989"
variation 515
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1455656263"
variation 516
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1346636921"
variation 517
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525823479"
variation 521
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652168903"
variation 522
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:921800708"
variation 524
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:780391814"
variation 525..529
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ct"
/replace="ctcct"
/db_xref="dbSNP:2525823513"
variation 526
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1238943105"
variation 527
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:749401049"
variation 529
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:768577760"
variation 530
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525823556"
variation 532
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:778913160"
variation 537
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652170919"
variation 538
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:747974985"
variation 546
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652171493"
variation 548
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1159259511"
variation 549
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:145341046"
variation 550
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652172248"
variation 551
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823625"
variation 552
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1412944529"
variation 553
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:773055466"
variation 554
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525823648"
variation 559
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525823660"
variation 560..565
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggggg"
/replace="gggggg"
/replace="ggggggg"
/db_xref="dbSNP:1360019202"
variation 560
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:760427027"
variation 561
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652173043"
variation 562
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525823698"
variation 563
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525823706"
variation 565..581
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gt"
/replace="gttctcaatgttactgt"
/db_xref="dbSNP:724160008"
variation 565
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:200046518"
variation 566
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570953900"
variation 568
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:776220915"
variation 571
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:759121025"
variation 572
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:764588242"
variation 579
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540945"
variation 580
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525823758"
variation 585
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823767"
variation 591
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101042761"
variation 592
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:752122295"
variation 595
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525823793"
variation 597
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823800"
variation 601
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:762286068"
variation 604
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200195666"
variation 607
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1312465041"
variation 610
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823847"
variation 613
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1203550548"
variation 614
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1255922024"
variation 618
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652175879"
variation 627
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823873"
variation 630
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823878"
variation 631
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:750859192"
variation 634
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525823892"
variation 639
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1179203009"
variation 640
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:756497821"
variation 641
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525823930"
variation 642
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525823939"
variation 644
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652176795"
variation 646
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525823963"
variation 647
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652177009"
variation 649
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:780454703"
variation 650
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1193050533"
variation 651..655
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="at"
/replace="ataat"
/db_xref="dbSNP:2525823998"
variation 652
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652177566"
variation 655
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:898366150"
exon 656..769
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 656
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525827238"
variation 658
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827242"
variation 660
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:773814995"
variation 664
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652219980"
variation 666
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827268"
variation 668
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827277"
variation 670
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1054916039"
variation 672
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:761125134"
variation 673
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525827296"
variation 676
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1164726764"
variation 679
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525827317"
variation 681
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652221117"
variation 682
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:766790730"
variation 683
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827365"
variation 685
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1407579054"
variation 686
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827391"
variation 688
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827403"
variation 689
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1483586374"
variation 692
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652222219"
variation 700
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1315713659"
variation 706..710
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ct"
/replace="ctcct"
/db_xref="dbSNP:1324881194"
variation 709
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1256819683"
variation 712
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150863711"
variation 713
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1398962674"
variation 714
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:755220071"
variation 715
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1342051662"
variation 716
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525827494"
variation 718
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:765465246"
variation 728
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525827552"
variation 730
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525827560"
variation 732
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193920762"
variation 734
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827583"
variation 736
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827593"
variation 740
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652224150"
variation 745
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525827605"
variation 751
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:991135879"
variation 757
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652224544"
variation 758
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525827630"
variation 760
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827637"
variation 761
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525827644"
variation 763
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525827656"
variation 764
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525827662"
variation 768
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525827669"
exon 770..904
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 774
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525829815"
variation 775
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1301792207"
variation 776
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525829841"
variation 779
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525829848"
variation 781
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:540856095"
variation 784
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370023243"
variation 785
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525829875"
variation 786
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525829879"
variation 787
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1652255676"
variation 789
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652255831"
variation 790
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:745700198"
variation 792
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525829924"
variation 796
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:755889262"
variation 806
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1476953195"
variation 810
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101044325"
variation 811
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:779577897"
variation 813
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139745455"
variation 814
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:184897904"
variation 815
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525829998"
variation 817
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1419889183"
variation 826
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:778631575"
variation 827
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525830026"
variation 828
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652257818"
variation 832
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525830034"
variation 835
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1221872894"
variation 836
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:747627862"
variation 837
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1280983367"
variation 838
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652258600"
variation 841
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:771388181"
variation 845
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:777143274"
variation 847
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525830082"
variation 850
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:145790737"
variation 852
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525830094"
variation 853
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1375969493"
variation 860
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:759845712"
variation 861
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525830125"
variation 866
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525830135"
variation 868
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652260098"
variation 871
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525830143"
variation 872
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1444488629"
variation 875
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1311490781"
variation 881
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:770133739"
variation 884
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1232676566"
variation 885
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525830184"
variation 886
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:879193417"
variation 888
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525830199"
variation 889
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1372576448"
variation 890
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:775593117"
variation 891
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1347486125"
variation 892
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2101044445"
variation 893
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525830235"
variation 895
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:763222448"
variation 897
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525830251"
exon 905..1022
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 905
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831220"
variation 907
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1034314320"
variation 909
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831232"
variation 914
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1264667039"
variation 916
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1024376796"
variation 918
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1452922227"
variation 919
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:187188585"
variation 922
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:770190742"
variation 931
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831314"
variation 936
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831323"
variation 940
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1476704974"
variation 942
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831344"
variation 944
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:992887190"
variation 948
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831364"
variation 951
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525831377"
variation 959
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652271166"
variation 960
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525831395"
variation 961
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1172639921"
variation 964
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652271463"
variation 966
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1424170832"
variation 967
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652271771"
variation 969
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:775902817"
variation 972
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831459"
variation 973
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101044687"
variation 974
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525831482"
variation 976
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:763273778"
variation 982
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831511"
variation 985
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:561066145"
variation 986
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1387469739"
variation 987
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:202098437"
variation 991
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:761912993"
variation 993
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525831570"
variation 995
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831581"
variation 996
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525831589"
variation 999
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:917361832"
variation 1003
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525831614"
variation 1006
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525831623"
variation 1007
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:767575185"
variation 1009
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:12079419"
variation 1011
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652274501"
variation 1012
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201702975"
variation 1016
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1321578905"
variation 1017
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525831705"
variation 1018
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652275490"
exon 1023..1291
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 1024
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1652301168"
variation 1026
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834006"
variation 1027
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:776666372"
variation 1028
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1263162539"
variation 1031
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:759405523"
variation 1032
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1258171077"
variation 1036
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1315985440"
variation 1040
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652302165"
variation 1042
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525834066"
variation 1045
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1403214280"
variation 1047
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1036506727"
variation 1048
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101045333"
variation 1050
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525834109"
variation 1051
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:912110487"
variation 1054
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:564117347"
variation 1058
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1328025079"
variation 1059
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:765069962"
variation 1060
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1378573712"
variation 1063
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834179"
variation 1075
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557785433"
variation 1080
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525834208"
variation 1081
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101045364"
variation 1082
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525834239"
variation 1084
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1450664823"
variation 1089
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525834257"
variation 1093
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:966706568"
variation 1095
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525834273"
variation 1098
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:866032260"
variation 1099
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652304119"
variation 1101
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:752531768"
variation 1102
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:899341780"
variation 1103
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525834308"
variation 1105
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525834323"
variation 1111
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525834336"
variation 1111
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="gg"
/db_xref="dbSNP:780584299"
variation 1114
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:758139508"
variation 1123
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834363"
variation 1124
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525834367"
variation 1125
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652304959"
variation 1128..1130
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="aaa"
/db_xref="dbSNP:2525834386"
variation 1129
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652305261"
variation 1131
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834410"
variation 1135
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652305409"
variation 1137
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652305594"
variation 1138
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1305031582"
variation 1141
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652305980"
variation 1142
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525834485"
variation 1144
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1380454704"
variation 1147
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652306324"
variation 1148
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1652306507"
variation 1149
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834532"
variation 1150
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834539"
variation 1155
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101045438"
variation 1156
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652306710"
variation 1157
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:866444285"
variation 1159
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652307098"
variation 1160
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045456"
variation 1162
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525834608"
variation 1163
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045461"
variation 1165
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:763626611"
variation 1166
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045468"
variation 1167
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:77346051"
variation 1168
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1373969191"
variation 1171
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2101045489"
variation 1172
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652307848"
variation 1173
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557785499"
variation 1175
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557785503"
variation 1176
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1471033105"
variation 1177
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1417973511"
variation 1178
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045522"
variation 1179
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200841398"
variation 1181..1188
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tctt"
/replace="tctttctt"
/db_xref="dbSNP:2525834743"
variation 1189
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834748"
variation 1190
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525834754"
variation 1191
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:930844243"
variation 1192
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1167893335"
variation 1193
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834777"
variation 1195
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101045529"
variation 1197
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525834794"
variation 1198
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1475927147"
variation 1199
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652309383"
variation 1201
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2101045542"
variation 1202
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525834837"
variation 1204
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:756675907"
variation 1205
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2101045550"
variation 1208
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1307241673"
variation 1209
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1652309872"
variation 1210
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:780570894"
variation 1213
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:749730352"
variation 1214
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2101045571"
variation 1215
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525834921"
variation 1216
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:919281808"
variation 1218
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101045580"
variation 1224
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525834956"
variation 1228
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525834970"
variation 1229
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045583"
variation 1231
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1460550080"
variation 1232
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525835007"
variation 1234
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525835013"
variation 1237
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:930713670"
variation 1240
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525835029"
variation 1241
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652310990"
variation 1243
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:1331886660"
variation 1243
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:755463200"
variation 1244
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:779317338"
variation 1245
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045606"
variation 1249
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145218202"
variation 1252
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1441600434"
variation 1253
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:772383915"
variation 1258
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:773255131"
variation 1260
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045623"
variation 1261
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:765344362"
variation 1262
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525835135"
variation 1263
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:724160010"
variation 1266
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1401759980"
variation 1267
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:539870936"
variation 1269
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045655"
variation 1273
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570957141"
variation 1274
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652313287"
variation 1276
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045664"
variation 1279
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:776719172"
variation 1280..1281
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gc"
/replace="gcgc"
/db_xref="dbSNP:2525835220"
variation 1281
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525835226"
variation 1286
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525835236"
variation 1288
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101045674"
variation 1290
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:759607882"
variation 1291
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101045681"
exon 1292..1490
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 1294
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1169068214"
variation 1296
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1426324449"
variation 1300
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1411024482"
variation 1303..1309
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="act"
/replace="acttact"
/db_xref="dbSNP:1313989265"
variation 1303
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525838163"
variation 1304
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540957"
variation 1309
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652352114"
variation 1311
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652352288"
variation 1312
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:778056808"
variation 1313
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1348829568"
variation 1316
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:747138813"
variation 1317
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101046489"
variation 1319
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525838236"
variation 1320
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1477922183"
variation 1326
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:771268719"
variation 1328..1332
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="aaaaa"
/replace="aaaaaa"
/db_xref="dbSNP:2525838254"
variation 1329..1330
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="ttct"
/db_xref="dbSNP:1652353366"
variation 1331
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1652353522"
variation 1333
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199742229"
variation 1334
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1652353884"
variation 1336
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838284"
variation 1339
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1345817945"
variation 1340
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525838295"
variation 1341
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838301"
variation 1342
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525838309"
variation 1349
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838315"
variation 1351
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838322"
variation 1354
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:781493270"
variation 1356
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525838332"
variation 1363
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838339"
variation 1366
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1198156033"
variation 1367
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1425795255"
variation 1369
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1442603832"
variation 1371
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525838372"
variation 1372
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838377"
variation 1375
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570958261"
variation 1377
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838397"
variation 1378
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11540956"
variation 1380
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101046549"
variation 1384
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1319837128"
variation 1387
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:2525838434"
variation 1387
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1183268053"
variation 1393
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101046559"
variation 1396
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101046562"
variation 1399
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:769904404"
variation 1402
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525838463"
variation 1403..1404
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gg"
/replace="ggg"
/db_xref="dbSNP:34427421"
variation 1403
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1289108099"
variation 1408
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838493"
variation 1411
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1445506224"
variation 1412
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838525"
variation 1420
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1319977262"
variation 1421
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:775243249"
variation 1422
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1269859843"
variation 1425
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525838553"
variation 1427
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838557"
variation 1429
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:56157844"
variation 1432
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:774066608"
variation 1435
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:761520176"
variation 1436
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838580"
variation 1438
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838592"
variation 1439
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1252478023"
variation 1440
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838604"
variation 1445
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838607"
variation 1447
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101046627"
variation 1448
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525838616"
variation 1452
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138556439"
variation 1457
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112808861"
variation 1459..1460
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="cc"
/replace="ccc"
/db_xref="dbSNP:1451533440"
variation 1461
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838655"
variation 1462
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:556425490"
variation 1463
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652359609"
variation 1464
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838677"
variation 1466
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1403085659"
variation 1468
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525838691"
variation 1471
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101046649"
variation 1473
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1165006226"
variation 1474
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:760128305"
variation 1480
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525838728"
variation 1482
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1246192772"
variation 1485..1488
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ag"
/replace="agag"
/db_xref="dbSNP:1418729641"
variation 1486
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1296073565"
variation 1489
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525838759"
exon 1491..1600
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 1491
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1238127035"
variation 1492
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525841305"
variation 1493
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525841310"
variation 1495
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:772932509"
variation 1497
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525841323"
variation 1499
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101047487"
variation 1500
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525841340"
variation 1504
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:753371066"
variation 1506
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1351759100"
variation 1508
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525841364"
variation 1509
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525841369"
variation 1510
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:985750787"
variation 1512
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652407672"
variation 1513
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570959431"
variation 1514
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:372871986"
variation 1515
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525841397"
variation 1516
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570959447"
variation 1517
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:891256379"
variation 1518
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:911157867"
variation 1519
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:200587748"
variation 1520
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1444588236"
variation 1523
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570959486"
variation 1524
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525841441"
variation 1525
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570959493"
variation 1528
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1325160520"
variation 1529
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:764635041"
variation 1533
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:757650235"
variation 1535
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525841550"
variation 1539
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525841558"
variation 1543
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570959516"
variation 1544
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652410721"
variation 1545
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1266324574"
variation 1547
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2101047575"
variation 1549
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570959531"
variation 1551
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525841612"
variation 1552
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525841621"
variation 1555
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1406541680"
variation 1556
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652411469"
variation 1561
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525841650"
variation 1564
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:767883919"
variation 1570
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1473496228"
variation 1572
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525841667"
variation 1573
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570959554"
variation 1576
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525841679"
variation 1577
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652412424"
variation 1579
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525841690"
variation 1583
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1427201017"
variation 1585
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:750607710"
variation 1586
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525841714"
variation 1588
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:756234339"
variation 1590
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652413184"
variation 1591
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525841756"
exon 1601..1735
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 1602
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:750806208"
variation 1604
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849558"
variation 1605
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525849567"
variation 1608
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525849574"
variation 1610
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849583"
variation 1612
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:147413662"
variation 1618
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:753883641"
variation 1619
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525849616"
variation 1621
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652581062"
variation 1624
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="t"
/replace="tt"
/db_xref="dbSNP:2525849639"
variation 1628
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525849646"
variation 1630
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:755045434"
variation 1633
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:555242903"
variation 1635
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:747605557"
variation 1637..1638
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tt"
/replace="tttt"
/db_xref="dbSNP:1397342828"
variation 1639
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1400784239"
variation 1640
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652582299"
variation 1642
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652582520"
variation 1645
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652582811"
variation 1646
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:922631358"
variation 1649
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652583454"
variation 1650
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1652583766"
variation 1651
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849766"
variation 1652
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652584085"
variation 1654
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:748017199"
variation 1659
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652584715"
variation 1662
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652585040"
variation 1665
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525849798"
variation 1666
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:758315956"
variation 1667
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525849816"
variation 1668
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652586262"
variation 1671
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1250825397"
variation 1672
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849845"
variation 1673
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1181286163"
variation 1674
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652586869"
variation 1675
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525849863"
variation 1676
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849869"
variation 1677
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1347690405"
variation 1680
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849888"
variation 1681..1687
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="aga"
/replace="agaaaga"
/db_xref="dbSNP:2525849892"
variation 1683
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:934067705"
variation 1684
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849906"
variation 1685
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370297737"
variation 1686
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525849916"
variation 1688
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652587788"
variation 1690
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:2525849938"
variation 1690
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140751331"
variation 1691
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:148719009"
variation 1692
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525849955"
variation 1693
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:745404503"
variation 1695
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849982"
variation 1697
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525849984"
variation 1699
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:769282405"
variation 1700
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201409287"
variation 1702
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:151274213"
variation 1703..1706
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ga"
/replace="gaga"
/db_xref="dbSNP:2525850021"
variation 1703
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652589909"
variation 1708
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525850024"
variation 1709
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525850033"
variation 1711
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525850041"
variation 1716
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525850051"
variation 1717
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:773759877"
variation 1718
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525850067"
variation 1720
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:761050494"
variation 1725
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652590915"
variation 1726
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:200928094"
variation 1729
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:754024918"
variation 1730
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525850109"
variation 1732
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1320985329"
exon 1736..1928
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 1738
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525853311"
variation 1741
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853319"
variation 1742
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525853326"
variation 1745
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1402054299"
variation 1746
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2101051976"
variation 1753..1777
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccccaacac"
/replace="ccccaacacatcggagccccaacac"
/db_xref="dbSNP:775427851"
variation 1753
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1312231394"
variation 1754
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:751451407"
variation 1755
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853381"
variation 1757
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652645053"
variation 1758
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525853397"
variation 1759
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372221522"
variation 1760
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525853414"
variation 1761
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652645726"
variation 1762
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1308068352"
variation 1764
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:141400264"
variation 1765
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11540953"
variation 1766
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:779802423"
variation 1767
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652647146"
variation 1768
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:748836037"
variation 1769
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853497"
variation 1771
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1004153266"
variation 1773
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:768214820"
variation 1775
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:778154659"
variation 1777
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:144872101"
variation 1778
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853616"
variation 1780
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:771333251"
variation 1783..1784
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="gg"
/db_xref="dbSNP:1405984937"
variation 1783
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:962820956"
variation 1785
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:767656830"
variation 1795
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:367957404"
variation 1796
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525853666"
variation 1804
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1160228710"
variation 1806
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652651707"
variation 1813
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570964544"
variation 1815
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525853701"
variation 1816
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853705"
variation 1817
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:574791429"
variation 1818
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540949"
variation 1822
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652653022"
variation 1824
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652653232"
variation 1828
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853744"
variation 1831
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853752"
variation 1832
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1339242029"
variation 1834
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:770028207"
variation 1836
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525853784"
variation 1837
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525853791"
variation 1839
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525853797"
variation 1840
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143049236"
variation 1841
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:910066930"
variation 1842
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2101052117"
variation 1843
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525853838"
variation 1844
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652654238"
variation 1846
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377581743"
variation 1847
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1370663382"
variation 1851
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1225144480"
variation 1852
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1307308245"
variation 1855
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1570964656"
variation 1856
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652655465"
variation 1858
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1311365906"
variation 1860
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525853914"
variation 1861
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570964673"
variation 1862
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:764106140"
variation 1864
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570964688"
variation 1865
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652656474"
variation 1868
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1264926126"
variation 1870
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652656817"
variation 1872
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525853970"
variation 1873
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101052183"
variation 1875
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:941562505"
variation 1876
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:142766448"
variation 1878
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525854017"
variation 1887
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525854030"
variation 1888
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138127848"
variation 1889
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652657631"
variation 1891
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:750283399"
variation 1893
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:554306933"
variation 1894
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570964734"
variation 1895
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570964741"
variation 1898
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:766132580"
variation 1901
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1393948794"
variation 1902
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652660012"
variation 1903..1908
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggggg"
/replace="gggggg"
/replace="ggggggg"
/db_xref="dbSNP:760784617"
variation 1903
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:753483752"
variation 1906
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525854175"
variation 1907
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525854184"
variation 1909
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525854194"
variation 1912
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:375787318"
variation 1913
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101052251"
variation 1916
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652660994"
variation 1918
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525854229"
variation 1920
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525854237"
variation 1924
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1056477317"
exon 1929..2104
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 1930..1951
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tttctgcca"
/replace="tttctgccacctctttctgcca"
/db_xref="dbSNP:2525860960"
variation 1930
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570967484"
variation 1931
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525860970"
variation 1932
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525860982"
variation 1933
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525860989"
variation 1936
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652802729"
variation 1939
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1411149485"
variation 1940
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652803102"
variation 1941
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525861032"
variation 1942
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861036"
variation 1948
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:150589240"
variation 1949
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861051"
variation 1953
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525861062"
variation 1954
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652803457"
variation 1955
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="gg"
/db_xref="dbSNP:2525861075"
variation 1957
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525861081"
variation 1958
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525861090"
variation 1959
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:754714789"
variation 1964
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525861103"
variation 1966
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:764771825"
variation 1967
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525861120"
variation 1971
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:866553949"
variation 1972
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525861138"
variation 1973
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861147"
variation 1975
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861152"
variation 1977
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525861162"
variation 1981
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1345878694"
variation 1986
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652804659"
variation 1988
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525861188"
variation 1990
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375738842"
variation 1991
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:757809799"
variation 1992
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1652805180"
variation 1993
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:781725995"
variation 1994
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525861236"
variation 1997
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525861243"
variation 1999
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652805583"
variation 2002
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:949638273"
variation 2003
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861265"
variation 2006
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:77217304"
variation 2008
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:923904971"
variation 2009
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652806511"
variation 2011
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861303"
variation 2012
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:796431957"
variation 2013
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652807006"
variation 2014
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:369543323"
variation 2015
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861348"
variation 2016..2019
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tg"
/replace="tgtg"
/db_xref="dbSNP:2525861360"
variation 2016
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861352"
variation 2017
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:756603700"
variation 2020
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1307855419"
variation 2023
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1240299800"
variation 2024
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:780464509"
variation 2025
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525861398"
variation 2029
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1214173204"
variation 2032
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1244273117"
variation 2035
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652809146"
variation 2037
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:768973685"
variation 2039
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525861435"
variation 2043
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1553192086"
variation 2047
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861447"
variation 2048
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101054985"
variation 2051
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525861460"
variation 2053
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1186548777"
variation 2055
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652809889"
variation 2056
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652810097"
variation 2057
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525861491"
variation 2058
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861499"
variation 2059
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:964739335"
variation 2062
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:746520572"
variation 2063
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652810684"
variation 2065
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:748262067"
variation 2066..2067
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cc"
/db_xref="dbSNP:1652811314"
variation 2066
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1553192091"
variation 2067
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2101055022"
variation 2068
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1165061765"
variation 2069..2070
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ga"
/replace="tt"
/db_xref="dbSNP:2525861568"
variation 2074
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:771986964"
variation 2075
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:893896136"
variation 2077
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652812123"
variation 2081
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525861595"
variation 2085
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557789877"
variation 2087
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861604"
variation 2088
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525861612"
variation 2090
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525861621"
variation 2092
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:773412210"
variation 2101
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525861634"
variation 2102
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1652812645"
exon 2105..2241
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 2105
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101057878"
variation 2107
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1351823891"
variation 2108
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525868730"
variation 2114
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1652955121"
variation 2116
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:771011403"
variation 2121
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525868764"
variation 2125
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1261813038"
variation 2131
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525868782"
variation 2132
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525868793"
variation 2134
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1652955697"
variation 2138
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1283565006"
variation 2141
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525868829"
variation 2144
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525868838"
variation 2147
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:921744874"
variation 2149
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:776668339"
variation 2152
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1204961813"
variation 2154
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101057932"
variation 2156
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525868872"
variation 2157
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525868882"
variation 2158
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1243252503"
variation 2164
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652956785"
variation 2167
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1652956968"
variation 2170
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525868934"
variation 2180
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525868946"
variation 2181
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1436762122"
variation 2186
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570970680"
variation 2188
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:369189037"
variation 2189
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:769421768"
variation 2191
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:775345642"
variation 2197
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1156754855"
variation 2198
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525869015"
variation 2199
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:762583802"
variation 2200
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1322155213"
variation 2201
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525869038"
variation 2202
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101057973"
variation 2204
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1201285937"
variation 2205
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372681379"
variation 2206
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525869080"
variation 2207
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1238522812"
variation 2208
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:201085928"
variation 2209
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525869116"
variation 2211
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:919369021"
variation 2212
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1177197453"
variation 2214
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1395827507"
variation 2215..2221
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ca"
/replace="catccca"
/db_xref="dbSNP:2525869171"
variation 2215
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1389801357"
variation 2216
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525869188"
variation 2220
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1439104737"
variation 2221
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:761265037"
variation 2222
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525869226"
variation 2223
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1336646309"
variation 2225
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1652961646"
variation 2226
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1194998549"
variation 2227
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525869303"
variation 2228
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:202066011"
variation 2235
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525869335"
variation 2236
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525869345"
variation 2237
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:766905602"
variation 2238
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525869363"
exon 2242..2392
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 2243
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525875785"
variation 2245
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1317814404"
variation 2250
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1490776856"
variation 2251
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1222357845"
variation 2253
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1210280323"
variation 2254
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653071897"
variation 2255
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525875873"
variation 2257
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1260875072"
variation 2258
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200285355"
variation 2260
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525875902"
variation 2266
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377724625"
variation 2267
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140135222"
variation 2270
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653072925"
variation 2273
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525875925"
variation 2275
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:756054875"
variation 2281
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653073351"
variation 2284
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525875954"
variation 2285
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525875964"
variation 2286
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653077906"
variation 2287
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525875980"
variation 2288
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525875987"
variation 2289
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570973191"
variation 2290
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:779993188"
variation 2292
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525876021"
variation 2293
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:151323380"
variation 2294
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:768375815"
variation 2299
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1156837929"
variation 2308
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:774116749"
variation 2310
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525876061"
variation 2312
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525876067"
variation 2314
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525876077"
variation 2316
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525876082"
variation 2317
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1288667083"
variation 2318
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525876098"
variation 2319
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1383372068"
variation 2320
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1408511040"
variation 2321
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1177991548"
variation 2323
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:747862363"
variation 2327..2330
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gaga"
/replace="gagaga"
/db_xref="dbSNP:1653080622"
variation 2329
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525876271"
variation 2331
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525876276"
variation 2332
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1471301969"
variation 2333
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653081014"
variation 2334
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1266835711"
variation 2335
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525876312"
variation 2338
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1319604970"
variation 2341
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525876333"
variation 2346
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525876339"
variation 2351
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653081625"
variation 2356
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525876364"
variation 2362
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525876378"
variation 2363
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525876385"
variation 2365
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653081822"
variation 2371
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371087257"
variation 2372
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:181070201"
variation 2377
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570973302"
variation 2380
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1490535697"
variation 2383
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149660732"
variation 2385
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525876466"
variation 2386
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:760179843"
variation 2389
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525876482"
variation 2392
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:902103517"
exon 2393..2561
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 2393
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1402651344"
variation 2394
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1407614555"
variation 2397
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:1653137801"
variation 2398
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:762223184"
variation 2401
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140143533"
variation 2402
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525880735"
variation 2407
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653138519"
variation 2413
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1570974592"
variation 2416
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570974605"
variation 2419
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367732874"
variation 2420
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525880786"
variation 2422
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570974629"
variation 2425
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1570974637"
variation 2427
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525880816"
variation 2428
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1407626351"
variation 2431
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525880833"
variation 2434
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525880840"
variation 2441
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:760685958"
variation 2443
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525880853"
variation 2446
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:868649360"
variation 2449
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:756735134"
variation 2452
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141191828"
variation 2455
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:754953903"
variation 2457
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525880901"
variation 2460
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1293321023"
variation 2462
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1288773906"
variation 2467
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:778769208"
variation 2468
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1221578816"
variation 2473
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:752519292"
variation 2476
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525880962"
variation 2477
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:781780318"
variation 2478
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1312834908"
variation 2482
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525880996"
variation 2484
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525881001"
variation 2485
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1653142976"
variation 2489
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525881016"
variation 2491
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525881027"
variation 2494
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653143212"
variation 2496
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:758143918"
variation 2499
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525881049"
variation 2500
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525881056"
variation 2504
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525881063"
variation 2509
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:777303413"
variation 2510
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525881084"
variation 2519
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653143865"
variation 2520
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525881099"
variation 2521
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525881109"
variation 2527
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653144111"
variation 2529
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653144318"
variation 2530
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525881127"
variation 2533
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525881134"
variation 2540
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1246429588"
variation 2544
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525881158"
variation 2545
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653144773"
variation 2548
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525881173"
variation 2550
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11540954"
variation 2551
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:533239713"
variation 2552
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:138064651"
variation 2554
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570974822"
exon 2562..2716
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 2564
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cc"
/db_xref="dbSNP:2525882287"
variation 2564
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525882279"
variation 2565
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:956023678"
variation 2566
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:143154361"
variation 2567
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:751282376"
variation 2569
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525882320"
variation 2572
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525882330"
variation 2575
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375568278"
variation 2593
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:141378291"
variation 2594
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1201985754"
variation 2596
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:745407330"
variation 2598
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653167055"
variation 2599
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:530130545"
variation 2602
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1287088858"
variation 2605
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653167736"
variation 2606
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525882444"
variation 2611
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:779579313"
variation 2617
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:985958983"
variation 2618
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1651321935"
variation 2620
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:748750456"
variation 2623
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:144039896"
variation 2629
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:944570753"
variation 2632
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:773672785"
variation 2634
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:747283959"
variation 2635
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:200315945"
variation 2639
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101062185"
variation 2641
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653169898"
variation 2642
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525882549"
variation 2643..2650
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tatt"
/replace="tatttatt"
/db_xref="dbSNP:1653170103"
variation 2644
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570975391"
variation 2647
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570975408"
variation 2650
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570975414"
variation 2653
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1446826980"
variation 2654
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:776767098"
variation 2656
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653171392"
variation 2657
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525882617"
variation 2658
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1367224721"
variation 2659
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:919214347"
variation 2660
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525882652"
variation 2662
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1570975461"
variation 2663
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525882668"
variation 2665
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1270119354"
variation 2668
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1570975475"
variation 2671
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1229877916"
variation 2674
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1244388740"
variation 2677
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:759625415"
variation 2680
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:372034384"
variation 2683
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570975540"
variation 2688..2692
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tc"
/replace="tcctc"
/db_xref="dbSNP:1345467353"
variation 2689
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525882774"
variation 2694
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1242082318"
variation 2695
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:775541230"
variation 2697
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525882809"
variation 2700
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1553192783"
variation 2701
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525882827"
variation 2707
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111483355"
variation 2708
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525882854"
variation 2710
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101062322"
exon 2717..2840
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 2717
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525884830"
variation 2718
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1248998698"
variation 2725
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653236322"
variation 2726
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525884855"
variation 2731
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525884861"
variation 2732
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:750241957"
variation 2734
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1214007570"
variation 2737
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570976544"
variation 2740
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653237190"
variation 2743
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145603535"
variation 2746
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653237666"
variation 2747
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:753467237"
variation 2748
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:756876559"
variation 2755
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:766077481"
variation 2761
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525884930"
variation 2768
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570976604"
variation 2770
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653238710"
variation 2772
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525884945"
variation 2773
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:533104598"
variation 2778
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525884958"
variation 2782
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570976616"
variation 2783
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:865875870"
variation 2785
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525884975"
variation 2787
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1261870395"
variation 2789
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:12724229"
variation 2790
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557793103"
variation 2791
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1570976682"
variation 2794
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525885039"
variation 2795
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1342249879"
variation 2797
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570976705"
variation 2799
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653241392"
variation 2800
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1201675914"
variation 2803
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:146093017"
variation 2806
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653242205"
variation 2808
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525885139"
variation 2809
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149820510"
variation 2810
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1436880886"
variation 2811
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557793134"
variation 2812
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570976781"
variation 2813
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525885177"
variation 2814
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:963515301"
variation 2815
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653243755"
variation 2818
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:778357280"
variation 2822
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653244200"
variation 2827
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1386870915"
exon 2841..2986
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 2844
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:781629728"
variation 2845
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525891470"
variation 2846
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525891478"
variation 2848
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525891484"
variation 2852
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101065871"
variation 2855
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374765742"
variation 2857
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:756405196"
variation 2859
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653415168"
variation 2866
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101065894"
variation 2868..2877
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ttactt"
/replace="ttacttactt"
/db_xref="dbSNP:1387822620"
variation 2868..2870
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="tta"
/db_xref="dbSNP:2525891532"
variation 2869
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:532093528"
variation 2873
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525891555"
variation 2874..2875
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="g"
/db_xref="dbSNP:2525891565"
variation 2875
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:962508920"
variation 2878
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:749535308"
variation 2879
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525891587"
variation 2884
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:778902543"
variation 2891
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525891599"
variation 2894
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1299272466"
variation 2896
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368053168"
variation 2898
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:772164096"
variation 2899
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1653417479"
variation 2902
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:773213314"
variation 2903
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:976897509"
variation 2905
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:760556495"
variation 2908
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525891695"
variation 2909
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:770689048"
variation 2912
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525891711"
variation 2914
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1261030089"
variation 2915
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101065974"
variation 2916
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653419088"
variation 2917
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:776481217"
variation 2918
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653419681"
variation 2921
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525891747"
variation 2922
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:879242854"
variation 2923
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1279984036"
variation 2924
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570979931"
variation 2925
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2101066014"
variation 2926
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1190603759"
variation 2927
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1248823681"
variation 2928
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101066038"
variation 2930
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525891818"
variation 2931
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1570979952"
variation 2933
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570979962"
variation 2934
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1653422030"
variation 2939
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:759150142"
variation 2941
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525891875"
variation 2942
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653422476"
variation 2945
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:764919483"
variation 2946
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:775005099"
variation 2947
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557794260"
variation 2948
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570979998"
variation 2951
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653424661"
variation 2953
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653424884"
variation 2956
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148578371"
variation 2957
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525891972"
variation 2961
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653425418"
variation 2963
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525891979"
variation 2968
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525891987"
variation 2972
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525891992"
variation 2974
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150831106"
variation 2975
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:983463553"
variation 2977
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653426504"
variation 2983
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557794288"
exon 2987..3117
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 2987
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570980329"
variation 2989
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:763654501"
variation 2992
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:937122853"
variation 2993
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525892885"
variation 2995
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:373693545"
variation 2996
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540950"
variation 2999
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525892919"
variation 3004
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570980384"
variation 3005..3050
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="atcgtgg"
/replace="atcgtggagttcacctgccacacagccttcttcgtcagtatcgtgg"
/db_xref="dbSNP:2525892942"
variation 3007
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:114525271"
variation 3008
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525892966"
variation 3010
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:755301003"
variation 3012
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:765387548"
variation 3013
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525892991"
variation 3015
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:753022560"
variation 3016
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140795898"
variation 3017
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:747061651"
variation 3019
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1288972719"
variation 3021
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525893047"
variation 3025
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:757162609"
variation 3028
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653445100"
variation 3029
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1319543170"
variation 3031
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:781145047"
variation 3036
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2101066445"
variation 3037
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cc"
/db_xref="dbSNP:2525893123"
variation 3037
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:745657240"
variation 3038
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1479883375"
variation 3042
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525893133"
variation 3043
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525893139"
variation 3046
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:769574702"
variation 3047
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:775252649"
variation 3048
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525893162"
variation 3049
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525893171"
variation 3050
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525893184"
variation 3051
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525893191"
variation 3052
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:749010651"
variation 3055
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525893209"
variation 3056
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525893215"
variation 3057
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101066476"
variation 3058
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525893236"
variation 3059
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570980551"
variation 3064
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:570205727"
variation 3065
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101066493"
variation 3066
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525893277"
variation 3068
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:773902417"
variation 3070
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653447562"
variation 3071
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:761343155"
variation 3073
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1432026451"
variation 3076
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525893364"
variation 3077..3087
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="tgtaagaccag"
/db_xref="dbSNP:1653448255"
variation 3079
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570980582"
variation 3082
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1570980595"
variation 3085
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1173367160"
variation 3086
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1195196790"
variation 3087
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525893412"
variation 3088
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570980614"
variation 3090
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525893425"
variation 3091
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1570980621"
variation 3094
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653449695"
variation 3096
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525893453"
variation 3097
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:138167001"
variation 3100
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:759943783"
variation 3102
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101066571"
variation 3103..3104
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cc"
/db_xref="dbSNP:2525893500"
variation 3103
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1188241763"
variation 3105
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525893506"
variation 3111
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:765762308"
variation 3112
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:904188232"
variation 3115
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1368453220"
variation 3117
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525893559"
exon 3118..3219
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 3121
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525895728"
variation 3123
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525895735"
variation 3127
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1653483525"
variation 3130
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525895744"
variation 3131
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:768322777"
variation 3134
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1295272161"
variation 3135
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525895767"
variation 3139
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:778468462"
variation 3140
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525895784"
variation 3141
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="t"
/db_xref="dbSNP:2101067314"
variation 3143..3145
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="t"
/replace="ttt"
/db_xref="dbSNP:2525895793"
variation 3145
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525895800"
variation 3153
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525895805"
variation 3154
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1381791502"
variation 3157
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1251731007"
variation 3158
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1205596969"
variation 3160
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:747623154"
variation 3164
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653485448"
variation 3165
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525896004"
variation 3170
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653485641"
variation 3172
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653485846"
variation 3175
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525896024"
variation 3179
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:771666666"
variation 3184
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:772589167"
variation 3187
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653486451"
variation 3191
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653486648"
variation 3192
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525896070"
variation 3193
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653486836"
variation 3194
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:760128653"
variation 3195
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653487239"
variation 3196
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1653487440"
variation 3198
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525896132"
variation 3199
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653487628"
variation 3201..3202
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tt"
/replace="ttt"
/db_xref="dbSNP:2525896150"
variation 3203
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:770400105"
variation 3204
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1287302513"
variation 3207
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525896171"
variation 3208
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525896180"
variation 3212
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2101067421"
variation 3215
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653488579"
variation 3216
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112208164"
variation 3218
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:776018998"
variation 3219
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1247867551"
exon 3220..3311
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 3220..3227
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="acctacct"
/replace="acctacctacct"
/db_xref="dbSNP:2525907411"
variation 3220
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525907398"
variation 3222
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1159632321"
variation 3223
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:970827565"
variation 3224
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525907436"
variation 3225
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:771215472"
variation 3226
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:545614799"
variation 3229
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525907464"
variation 3231
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525907473"
variation 3240
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525907481"
variation 3241
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:773368360"
variation 3244..3247
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccc"
/replace="cccc"
/db_xref="dbSNP:2525907506"
variation 3244
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:760709044"
variation 3249
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525907511"
variation 3252
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1272955218"
variation 3253
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1192435220"
variation 3254
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653755253"
variation 3255
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525907596"
variation 3256
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:977860799"
variation 3257..3259
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="ctc"
/db_xref="dbSNP:2525907613"
variation 3259
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525907621"
variation 3261
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525907629"
variation 3262
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525907633"
variation 3265
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374509870"
variation 3266
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:753827120"
variation 3268
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:754902079"
variation 3270
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525907666"
variation 3271
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1290814804"
variation 3274
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146071470"
variation 3275
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525907688"
variation 3277
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1653756764"
variation 3278
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525907707"
variation 3281
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525907720"
variation 3283
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525907728"
variation 3286
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:752411608"
variation 3287
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653757162"
variation 3288
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1490428511"
variation 3289
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1277408506"
variation 3290
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525907792"
variation 3291
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1440360198"
variation 3292
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653758004"
variation 3293
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1211929333"
variation 3295
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1156958572"
variation 3299
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525907832"
variation 3300
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:758090295"
variation 3302
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:777250534"
variation 3303
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:746521823"
variation 3306
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653759299"
variation 3308
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1414092859"
variation 3310
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653759705"
variation 3311
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653759974"
exon 3312..3670
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/inference="alignment:Splign:2.1.0"
variation 3312
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525910693"
variation 3318
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570987397"
variation 3319
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653801911"
variation 3322
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525910805"
variation 3325
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:9567"
variation 3328
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:751315597"
variation 3333
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525910841"
variation 3337
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570987427"
variation 3340
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653802889"
variation 3341..3346
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccccc"
/replace="cccccc"
/replace="ccccccc"
/db_xref="dbSNP:528281918"
variation 3341
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653803083"
variation 3342
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:756967771"
variation 3343
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653803652"
variation 3344
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570987458"
variation 3345
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1305327052"
variation 3346
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:780890449"
variation 3347
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:749933570"
variation 3348
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1438141485"
variation 3349
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:755533143"
variation 3350..3353
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="ctgc"
/db_xref="dbSNP:1653805047"
variation 3350
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911015"
variation 3352
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370445564"
variation 3353
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cc"
/db_xref="dbSNP:2525911041"
variation 3354
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525911049"
variation 3355
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:779252492"
variation 3356
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1225848173"
variation 3358
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802716"
variation 3359
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:373465542"
variation 3361
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2101073957"
variation 3363
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:778102684"
variation 3364..3372
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="gcatcaggc"
/replace="gcatcaggcatcaggc"
/db_xref="dbSNP:2525911120"
variation 3364
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1265263909"
variation 3365
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cc"
/db_xref="dbSNP:2525911135"
variation 3365
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:747270418"
variation 3368
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653806782"
variation 3369
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1381208206"
variation 3370
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653807119"
variation 3371
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911167"
variation 3372
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:771117757"
variation 3373
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1180556326"
variation 3375
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911189"
variation 3376
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:776713700"
variation 3377..3381
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cactc"
/db_xref="dbSNP:1431582750"
variation 3377
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374628870"
variation 3379..3382
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ct"
/replace="ctct"
/db_xref="dbSNP:1653808501"
variation 3379
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:568789819"
variation 3380
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:762935446"
variation 3381
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061473"
variation 3383
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911261"
variation 3386
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="t"
/db_xref="dbSNP:1653809125"
variation 3387..3399
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="cc"
/replace="ccgacacccaccc"
/db_xref="dbSNP:1284272815"
variation 3388
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368616561"
variation 3389..3390
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="ga"
/db_xref="dbSNP:1653809832"
variation 3389
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372554697"
variation 3390
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1393530196"
variation 3391
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1406549558"
variation 3393..3400
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="cccacccc"
/replace="cccaccccacccc"
/db_xref="dbSNP:753455374"
variation 3393
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1046271895"
variation 3394
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911329"
variation 3395..3396
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="ct"
/db_xref="dbSNP:1653810657"
variation 3396
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525911342"
variation 3398
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802717"
variation 3399..3403
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ccctc"
/replace="ccctccctc"
/db_xref="dbSNP:1653811201"
variation 3399
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:906448964"
variation 3400
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1348153284"
variation 3401..3404
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ct"
/replace="ctct"
/db_xref="dbSNP:1388375164"
variation 3401
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653811543"
variation 3402
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1224776943"
variation 3404
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911401"
variation 3406
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653812076"
variation 3407
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653812248"
variation 3408..3420
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="t"
/replace="tgtacttcagtct"
/db_xref="dbSNP:1653812582"
variation 3408
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:914030909"
variation 3412
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653812776"
variation 3413
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:999169184"
variation 3415
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911462"
variation 3416
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="aa"
/db_xref="dbSNP:1653813191"
variation 3416
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525911469"
variation 3417
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1199123139"
variation 3418
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:946904003"
variation 3419
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653813668"
variation 3420
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911507"
variation 3421
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1052547618"
variation 3422..3425
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggag"
/replace="ggaggag"
/db_xref="dbSNP:1653814863"
variation 3422
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653814644"
variation 3423..3426
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="gagt"
/db_xref="dbSNP:2525911547"
variation 3424
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653815076"
variation 3426
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1570987751"
variation 3427
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570987761"
variation 3428
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1570987771"
variation 3429
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911593"
variation 3434
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653815935"
variation 3435
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525911611"
variation 3436
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911622"
variation 3437
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1377076095"
variation 3439
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911644"
variation 3440
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1199714640"
variation 3442..3443
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="gg"
/db_xref="dbSNP:1438623260"
variation 3442
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1261715373"
variation 3444
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525911673"
variation 3445
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911687"
variation 3451
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653817001"
variation 3452
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911706"
variation 3453
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557797633"
variation 3454
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1193353823"
variation 3455
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802715"
variation 3456
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:772774743"
variation 3457
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570987879"
variation 3458
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1343852068"
variation 3459
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911766"
variation 3460
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653818446"
variation 3464
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525911778"
variation 3465
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540960"
variation 3466
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911794"
variation 3468..3469
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:2525911806"
variation 3468
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911797"
variation 3470
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1653818809"
variation 3471
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653819000"
variation 3472
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1653819181"
variation 3473..3474
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="aa"
/db_xref="dbSNP:1653819601"
variation 3473
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1570987903"
variation 3475
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525911843"
variation 3477
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1010605509"
variation 3477
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="cc"
/db_xref="dbSNP:2101074346"
variation 3478
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1338300953"
variation 3479
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911883"
variation 3480
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:943366120"
variation 3481
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525911902"
variation 3482
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1653820514"
variation 3483
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911923"
variation 3484
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525911929"
variation 3485
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525911935"
variation 3486
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525911944"
variation 3487
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1342082921"
variation 3493
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525911965"
variation 3494
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525911974"
variation 3495
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525911978"
variation 3496
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525911985"
variation 3497
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1310852353"
variation 3499
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1412944360"
variation 3500
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525912007"
variation 3502
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912023"
variation 3503
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1028740691"
variation 3504
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1173212967"
variation 3505..3521
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggggggaggggggaggg"
/replace="ggggggaggggggaggggggaggg"
/db_xref="dbSNP:1490873088"
variation 3505..3510
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggggg"
/replace="gggggg"
/replace="ggggggg"
/replace="gggggggg"
/db_xref="dbSNP:1467681635"
variation 3505
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1200206055"
variation 3506
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:953510058"
variation 3507
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1478441256"
variation 3508
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1265705671"
variation 3509
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912085"
variation 3511
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="aa"
/db_xref="dbSNP:2525912096"
variation 3511
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653822963"
variation 3512..3517
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggggg"
/replace="gggggg"
/replace="ggggggg"
/db_xref="dbSNP:35744092"
variation 3512
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:557398122"
variation 3513
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1040812018"
variation 3514
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1019165034"
variation 3515
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912146"
variation 3516
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912151"
variation 3517
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653824354"
variation 3518
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912169"
variation 3520
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:962628079"
variation 3521
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1315594184"
variation 3522
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1170604517"
variation 3523
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:14438"
variation 3526
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1256886752"
variation 3527
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2525912223"
variation 3528
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:972367412"
variation 3529..3532
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="aa"
/replace="aaaa"
/replace="aaaaa"
/db_xref="dbSNP:1653825934"
variation 3531
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912250"
variation 3536
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912264"
variation 3537
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912281"
variation 3539..3542
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="atct"
/db_xref="dbSNP:1653826277"
variation 3539
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653826097"
variation 3541
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525912299"
variation 3542..3545
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="tg"
/replace="tgtg"
/db_xref="dbSNP:2525912423"
variation 3542
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:929336944"
variation 3549
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1319956570"
variation 3550
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912442"
variation 3552
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653826806"
variation 3553
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:2525912456"
variation 3555..3557
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="gcg"
/db_xref="dbSNP:2525912477"
variation 3555
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653826970"
variation 3556
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540958"
variation 3557..3560
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ggg"
/replace="gggg"
/replace="ggggg"
/db_xref="dbSNP:141524383"
variation 3557
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:576548253"
variation 3558
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653829312"
variation 3560
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:777043117"
variation 3562
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653829951"
variation 3563
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653830232"
variation 3564
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:991566549"
variation 3569
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912548"
variation 3570
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653830799"
variation 3571
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912567"
variation 3572
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1398127879"
variation 3573
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142117136"
variation 3574
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:905816584"
variation 3576
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525912639"
variation 3577..3581
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="ttttt"
/db_xref="dbSNP:2525912654"
variation 3577..3581
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ttt"
/replace="tttt"
/replace="ttttt"
/db_xref="dbSNP:1653831889"
variation 3578
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912668"
variation 3581
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1170061900"
variation 3582
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525912688"
variation 3583..3587
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="ttttt"
/replace="tttttt"
/db_xref="dbSNP:2525912691"
variation 3584
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525912700"
variation 3585
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525912708"
variation 3588
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912713"
variation 3589
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912717"
variation 3590..3595
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="aaaaaa"
/replace="aaaaaaaa"
/db_xref="dbSNP:2525912733"
variation 3590
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653832485"
variation 3591
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1570988231"
variation 3593..3596
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="aaag"
/db_xref="dbSNP:2525912760"
variation 3593
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:762154901"
variation 3595
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1307065794"
variation 3599
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2101074616"
variation 3600
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912792"
variation 3601
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1062014"
variation 3602
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525912808"
variation 3604
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:947879156"
variation 3605
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:555588079"
variation 3607
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912839"
variation 3609
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:574265794"
variation 3610
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912868"
variation 3611
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525912873"
variation 3612
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653835241"
variation 3613
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:955707132"
variation 3614
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2525912895"
variation 3615
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912899"
variation 3618
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912905"
variation 3619
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912917"
variation 3622
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525912929"
variation 3623
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:1557797882"
variation 3623
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525912939"
variation 3628
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525912960"
variation 3629
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525912965"
variation 3630
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525912978"
variation 3634
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525912985"
variation 3635
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525913004"
variation 3636
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653836269"
variation 3639
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="t"
/db_xref="dbSNP:765698320"
variation 3642
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1368673507"
variation 3643
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525913044"
variation 3644
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1189127212"
variation 3645
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2525913057"
regulatory 3646..3651
/regulatory_class="polyA_signal_sequence"
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="hexamer: AATAAA"
variation 3647
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525913064"
variation 3652
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2525913071"
variation 3654
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2525913077"
variation 3655
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1653837510"
variation 3656
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525913100"
variation 3657
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace=""
/replace="c"
/db_xref="dbSNP:1406263467"
variation 3659
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653838126"
variation 3661
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653838411"
variation 3662
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="aa"
/db_xref="dbSNP:2525913144"
variation 3663
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1653838722"
variation 3665
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2525913165"
variation 3666
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:750974345"
variation 3669
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1653839372"
polyA_site 3670
/gene="ATP1A1"
/gene_synonym="CMT2DD; HOMGSMR2"
/note="major polyA site"
ORIGIN
ggagctgcggcggggtctggggcgcagagcagcggcgggaggaggcggacacgtggcaacagcggtagcagcccgggcggcggcagcaacagcggcggcggcatcggcccgagccgccggccgccctcccaccctcccgccccgcggcagccctagctccctccacttggctcccctggtcccgctcgctcggccgggagctgctctgtgcttttctctctgattctccagcgacaggacccggcgccgggcactgagcaccgccaccatggggaagggggttggacgtgataagtatgagcctgcagctgtttcagaacaaggtgataaaaagggcaaaaagggcaaaaaagacagggacatggatgaactgaagaaagaagtttctatggatgatcataaacttagccttgatgaacttcatcgtaaatatggaacagacttgagccggggattaacatctgctcgtgcagctgagatcctggcgcgagatggtcccaacgccctcactccccctcccactactcctgaatggatcaagttttgtcggcagctctttggggggttctcaatgttactgtggattggagcgattctttgtttcttggcttatagcatccaagctgctacagaagaggaacctcaaaacgataatctgtacctgggtgtggtgctatcagccgttgtaatcataactggttgcttctcctactatcaagaagctaaaagttcaaagatcatggaatccttcaaaaacatggtccctcagcaagcccttgtgattcgaaatggtgagaaaatgagcataaatgcggaggaagttgtggttggggatctggtggaagtaaaaggaggagaccgaattcctgctgacctcagaatcatatctgcaaatggctgcaaggtggataactcctcgctcactggtgaatcagaaccccagactaggtctccagatttcacaaatgaaaaccccctggagacgaggaacattgccttcttttcaaccaattgtgttgaaggcaccgcacgtggtattgttgtctacactggggatcgcactgtgatgggaagaattgccacacttgcttctgggctggaaggaggccagacccccattgctgcagaaattgaacattttatccacatcatcacgggtgtggctgtgttcctgggtgtgtctttcttcatcctttctctcatccttgagtacacctggcttgaggctgtcatcttcctcatcggtatcatcgtagccaatgtgccggaaggtttgctggccactgtcacggtctgtctgacacttactgccaaacgcatggcaaggaaaaactgcttagtgaagaacttagaagctgtggagaccttggggtccacgtccaccatctgctctgataaaactggaactctgactcagaaccggatgacagtggcccacatgtggtttgacaatcaaatccatgaagctgatacgacagagaatcagagtggtgtctcttttgacaagacttcagctacctggcttgctctgtccagaattgcaggtctttgtaacagggcagtgtttcaggctaaccaggaaaacctacctattcttaagcgggcagttgcaggagatgcctctgagtcagcactcttaaagtgcatagagctgtgctgtggttccgtgaaggagatgagagaaagatacgccaaaatcgtcgagatacccttcaactccaccaacaagtaccagttgtctattcataagaaccccaacacatcggagccccaacacctgttggtgatgaagggcgccccagaaaggatcctagaccgttgcagctctatcctcctccacggcaaggagcagcccctggatgaggagctgaaagacgcctttcagaacgcctatttggagctggggggcctcggagaacgagtcctaggtttctgccacctctttctgccagatgaacagtttcctgaagggttccagtttgacactgacgatgtgaatttccctatcgataatctgtgctttgttgggctcatctccatgattgaccctccacgggcggccgttcctgatgccgtgggcaaatgtcgaagtgctggaattaaggtcatcatggtcacaggagaccatccaatcacagctaaagctattgccaaaggtgtgggcatcatctcagaaggcaatgagaccgtggaagacattgctgcccgcctcaacatcccagtcagccaggtgaaccccagggatgccaaggcctgcgtagtacacggcagtgatctaaaggacatgacctccgagcagctggatgacattttgaagtaccacactgagatagtgtttgccaggacctcccctcagcagaagctcatcattgtggaaggctgccaaagacagggtgctatcgtggctgtgactggtgacggtgtgaatgactctccagctttgaagaaagcagacattggggttgctatggggattgctggctcagatgtgtccaagcaagctgctgacatgattcttctggatgacaactttgcctcaattgtgactggagtagaggaaggtcgtctgatctttgataacttgaagaaatccattgcttataccttaaccagtaacattcccgagatcaccccgttcctgatatttattattgcaaacattccactaccactggggactgtcaccatcctctgcattgacttgggcactgacatggttcctgccatctccctggcttatgagcaggctgagagtgacatcatgaagagacagcccagaaatcccaaaacagacaaacttgtgaatgagcggctgatcagcatggcctatgggcagattggaatgatccaggccctgggaggcttctttacttactttgtgattctggctgagaacggcttcctcccaattcacctgttgggcctccgagtggactgggatgaccgctggatcaacgatgtggaagacagctacgggcagcagtggacctatgagcagaggaaaatcgtggagttcacctgccacacagccttcttcgtcagtatcgtggtggtgcagtgggccgacttggtcatctgtaagaccaggaggaattcggtcttccagcaggggatgaagaacaagatcttgatatttggcctctttgaagagacagccctggctgctttcctttcctactgccctggaatgggtgttgctcttaggatgtatcccctcaaacctacctggtggttctgtgccttcccctactctcttctcatcttcgtatatgacgaagtcagaaaactcatcatcaggcgacgccctggcggctgggtggagaaggaaacctactattagccccccgtcctgcacgccgtggagcatcaggccacacactctgcatccgacacccaccccctctttgtgtacttcagtcttggagtttggaactctaccctggtaggaaagcaccgcagcatgtggggaagcaagacgtcctggaatgaagcatgtagctctatggggggaggggggagggctgcctgaaaaccatccatctgtggaaatgacagcggggaaggtttttatgtgcctttttgtttttgtaaaaaaggaacacccggaaagactgaaagaatacattttatatctggatttttacaaataaagatggctattataatggaa
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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