NM_000702.4(ATP1A2):c.*1207G>T
|
rs566535472
|
0.00119
|
NM_000702.4(ATP1A2):c.*2073A>G
|
rs373523004
|
0.00081
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_000702.4(ATP1A2):c.*286G>C
|
rs542623068
|
0.00032
|
NM_000702.4(ATP1A2):c.*2223C>T
|
rs866583777
|
0.00029
|
NM_000702.4(ATP1A2):c.*1835C>T
|
rs774745308
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_000702.4(ATP1A2):c.*1290T>C
|
rs886045428
|
0.00019
|
NM_000702.4(ATP1A2):c.*73G>A
|
rs368523013
|
0.00016
|
NM_000702.4(ATP1A2):c.*2184A>G
|
rs796180952
|
0.00014
|
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)
|
rs139499540
|
0.00014
|
NM_000702.4(ATP1A2):c.-70G>A
|
rs569640199
|
0.00011
|
NM_000702.4(ATP1A2):c.*120A>G
|
rs886045419
|
0.00009
|
NM_000702.4(ATP1A2):c.*870G>A
|
rs886045423
|
0.00009
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
NM_000702.4(ATP1A2):c.*1461C>T
|
rs971355280
|
0.00006
|
NM_000702.4(ATP1A2):c.*147C>T
|
rs574763789
|
0.00006
|
NM_000702.4(ATP1A2):c.*175C>T
|
rs886045421
|
0.00006
|
NM_000702.4(ATP1A2):c.*910A>G
|
rs886045424
|
0.00006
|
NM_152296.4(ATP1A3):c.-186G>A
|
rs886054478
|
0.00006
|
NM_152296.5(ATP1A3):c.*13C>A
|
rs781878302
|
0.00006
|
NM_152296.5(ATP1A3):c.-64A>G
|
rs373531937
|
0.00006
|
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_000702.4(ATP1A2):c.1461+5G>A
|
rs199906945
|
0.00005
|
NM_000702.4(ATP1A2):c.*1356G>A
|
rs538918257
|
0.00004
|
NM_000702.4(ATP1A2):c.*511C>G
|
rs907113046
|
0.00003
|
NM_152296.5(ATP1A3):c.*298C>T
|
rs781980860
|
0.00003
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
NM_000702.4(ATP1A2):c.*1737C>T
|
rs776064194
|
0.00002
|
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=)
|
rs763041955
|
0.00002
|
NM_000702.4(ATP1A2):c.360G>A (p.Glu120=)
|
rs369061211
|
0.00002
|
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
|
rs1353417724
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+3G>A
|
rs782555113
|
0.00002
|
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)
|
rs1213986618
|
0.00001
|
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)
|
rs745852247
|
0.00001
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
NM_000702.4(ATP1A2):c.*1630C>T
|
rs886045433
|
0.00001
|
NM_000702.4(ATP1A2):c.*1712C>A
|
rs1242345851
|
0.00001
|
NM_000702.4(ATP1A2):c.*1815G>C
|
rs886045435
|
0.00001
|
NM_000702.4(ATP1A2):c.*1953T>C
|
rs767882535
|
0.00001
|
NM_000702.4(ATP1A2):c.*535G>C
|
rs961293073
|
0.00001
|
NM_000702.4(ATP1A2):c.*648A>G
|
rs886045422
|
0.00001
|
NM_000702.4(ATP1A2):c.1098C>A (p.Gly366=)
|
rs779356370
|
0.00001
|
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met)
|
rs121918618
|
0.00001
|
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys)
|
rs779985796
|
0.00001
|
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn)
|
rs749326394
|
0.00001
|
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp)
|
rs762330744
|
0.00001
|
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His)
|
rs796052282
|
0.00001
|
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln)
|
rs745824475
|
0.00001
|
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser)
|
rs200425518
|
0.00001
|
NM_000702.4(ATP1A2):c.2285-7C>T
|
rs915777286
|
0.00001
|
NM_000702.4(ATP1A2):c.2564-14C>T
|
rs775031246
|
0.00001
|
NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr)
|
rs794727222
|
0.00001
|
NM_000702.4(ATP1A2):c.285C>T (p.Phe95=)
|
rs886045415
|
0.00001
|
NM_000702.4(ATP1A2):c.45G>A (p.Thr15=)
|
rs764559670
|
0.00001
|
NM_000702.4(ATP1A2):c.748+3G>A
|
rs767929498
|
0.00001
|
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp)
|
rs782423325
|
0.00001
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)
|
rs782744167
|
0.00001
|
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)
|
rs2075172328
|
0.00001
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)
|
rs781786336
|
0.00001
|
NM_152296.5(ATP1A3):c.776G>A (p.Arg259His)
|
rs1599722721
|
0.00001
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
NC_000023.11:g.(?_30304559)_(30309383_?)dup
|
|
|
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
|
|
|
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
|
|
|
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
|
|
|
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
|
|
|
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
|
|
|
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
|
|
|
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu)
|
rs1926600775
|
|
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
|
|
|
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
|
|
|
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu)
|
rs1569269085
|
|
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
|
|
|
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
|
|
|
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
|
|
|
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
|
|
|
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
|
|
|
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
|
|
|
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
|
|
|
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
|
|
|
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln)
|
rs1569268891
|
|
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
|
|
|
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
|
|
|
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
|
|
|
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
|
|
|
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg)
|
rs1926571373
|
|
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro)
|
rs2147006470
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
|
|
|
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
|
|
|
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
|
|
|
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
|
|
|
NM_000702.3(ATP1A2):c.-146G>A
|
rs1651151470
|
|
NM_000702.4(ATP1A2):c.*1007G>C
|
rs1652178478
|
|
NM_000702.4(ATP1A2):c.*1035A>G
|
rs886045425
|
|
NM_000702.4(ATP1A2):c.*1241del
|
rs886045426
|
|
NM_000702.4(ATP1A2):c.*1245A>C
|
rs886045427
|
|
NM_000702.4(ATP1A2):c.*1284C>A
|
rs78507938
|
|
NM_000702.4(ATP1A2):c.*1333dup
|
rs538086614
|
|
NM_000702.4(ATP1A2):c.*143G>T
|
rs886045420
|
|
NM_000702.4(ATP1A2):c.*1482del
|
rs886045430
|
|
NM_000702.4(ATP1A2):c.*1547_*1548delinsTT
|
rs886045432
|
|
NM_000702.4(ATP1A2):c.*1643_*1646del
|
rs533473532
|
|
NM_000702.4(ATP1A2):c.*18C>T
|
rs886045418
|
|
NM_000702.4(ATP1A2):c.*2065G>A
|
rs886045436
|
|
NM_000702.4(ATP1A2):c.*2070C>T
|
rs886045437
|
|
NM_000702.4(ATP1A2):c.*2147T>G
|
rs886045438
|
|
NM_000702.4(ATP1A2):c.*25T>C
|
rs768950032
|
|
NM_000702.4(ATP1A2):c.*383C>T
|
rs528397631
|
|
NM_000702.4(ATP1A2):c.*488G>T
|
rs765388921
|
|
NM_000702.4(ATP1A2):c.*850C>T
|
rs779877049
|
|
NM_000702.4(ATP1A2):c.1010C>T (p.Thr337Ile)
|
|
|
NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp)
|
rs1057518514
|
|
NM_000702.4(ATP1A2):c.111G>A (p.Val37=)
|
rs886045414
|
|
NM_000702.4(ATP1A2):c.1363C>A (p.Leu455Ile)
|
rs1490998665
|
|
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg)
|
rs1057521886
|
|
NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp)
|
rs150784486
|
|
NM_000702.4(ATP1A2):c.2014T>A (p.Ser672Thr)
|
rs1651897433
|
|
NM_000702.4(ATP1A2):c.2254T>A (p.Phe752Ile)
|
|
|
NM_000702.4(ATP1A2):c.253C>T (p.Pro85Ser)
|
rs1448339977
|
|
NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr)
|
rs1553245907
|
|
NM_000702.4(ATP1A2):c.2745C>T (p.Cys915=)
|
rs1651972956
|
|
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met)
|
rs373276446
|
|
NM_000702.4(ATP1A2):c.2936C>G (p.Pro979Arg)
|
|
|
NM_000702.4(ATP1A2):c.433T>C (p.Ser145Pro)
|
rs2101985906
|
|
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile)
|
rs867416764
|
|
NM_000702.4(ATP1A2):c.631-6C>T
|
rs886045416
|
|
NM_000702.4(ATP1A2):c.719T>A (p.Ile240Asn)
|
rs1651548209
|
|
NM_000702.4(ATP1A2):c.754G>A (p.Ala252Thr)
|
rs886045417
|
|
NM_000702.4(ATP1A2):c.841C>A (p.Pro281Thr)
|
|
|
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)
|
rs181618883
|
|
NM_152296.5(ATP1A3):c.*206T>C
|
rs1197209551
|
|
NM_152296.5(ATP1A3):c.*280T>A
|
rs886054472
|
|
NM_152296.5(ATP1A3):c.*99C>G
|
rs1555858636
|
|
NM_152296.5(ATP1A3):c.-130GACG[3]
|
rs879996553
|
|
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
|
|
|
NM_152296.5(ATP1A3):c.1192+7G>A
|
rs374826826
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=)
|
rs886054474
|
|
NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp)
|
rs1555862098
|
|
NM_152296.5(ATP1A3):c.1806+12G>C
|
rs1555862070
|
|
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)
|
rs2075159123
|
|
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
|
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
NM_152296.5(ATP1A3):c.607-3C>T
|
rs886054475
|
|
NM_152296.5(ATP1A3):c.725-6C>T
|
rs782647558
|
|