Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41984912C=CA2336727969ATP1A3c.1032+6G= (n.1032+6G=)
c.993+6G= (n.993+6G=)
n.312G=
c.1026+6G= (n.1026+6G=)
c.903+6G= (n.903+6G=)
19g.41984912C>TCA633471602ATP1A3c.1032+6G>A (n.1032+6G>A)
c.993+6G>A (n.993+6G>A)
n.312G>A
c.1026+6G>A (n.1026+6G>A)
c.903+6G>A (n.903+6G>A)
dbSNP gnomAD v2 gnomAD v4
19g.41984913_41984914insCAGCCCTCACCCA2536253556ATP1A3c.1032+6_1032+7insTGAGGGCTGGG (n.1032+6_1032+7insTGAGGGCTGGG)
c.993+6_993+7insTGAGGGCTGGG (n.993+6_993+7insTGAGGGCTGGG)
n.312_313insTGAGGGCTGGG
c.1026+6_1026+7insTGAGGGCTGGG (n.1026+6_1026+7insTGAGGGCTGGG)
c.903+6_903+7insTGAGGGCTGGG (n.903+6_903+7insTGAGGGCTGGG)
19g.41984913C>ACA2585370643ATP1A3c.1032+5G>T (n.1032+5G>T)
c.993+5G>T (n.993+5G>T)
n.311G>T
c.1026+5G>T (n.1026+5G>T)
c.903+5G>T (n.903+5G>T)
gnomAD v4
19g.41984916A>CCA406052029ATP1A3c.1032+2T>G (n.1032+2T>G)
c.993+2T>G (n.993+2T>G)
n.308T>G
c.1026+2T>G (n.1026+2T>G)
c.903+2T>G (n.903+2T>G)
19g.41984916A>GCA406052030ATP1A3c.1032+2T>C (n.1032+2T>C)
c.993+2T>C (n.993+2T>C)
n.308T>C
c.1026+2T>C (n.1026+2T>C)
c.903+2T>C (n.903+2T>C)
19g.41984916A>TCA406052033ATP1A3c.1032+2T>A (n.1032+2T>A)
c.993+2T>A (n.993+2T>A)
n.308T>A
c.1026+2T>A (n.1026+2T>A)
c.903+2T>A (n.903+2T>A)
19g.41984917_41984918delCA2695228878ATP1A3c.1032+1_1032+2del
c.993+1_993+2del
n.307_308del
c.1026+1_1026+2del
c.903+1_903+2del
19g.41984922_41984927delCA2695228879ATP1A3c.1029_1032+2del
c.990_993+2del
n.303_308del
c.1023_1026+2del
c.900_903+2del
19g.41984917C>ACA406052039ATP1A3c.1032+1G>T (n.1032+1G>T)
c.993+1G>T (n.993+1G>T)
n.307G>T
c.1026+1G>T (n.1026+1G>T)
c.903+1G>T (n.903+1G>T)
19g.41984917C>GCA406052036ATP1A3c.1032+1G>C (n.1032+1G>C)
c.993+1G>C (n.993+1G>C)
n.307G>C
c.1026+1G>C (n.1026+1G>C)
c.903+1G>C (n.903+1G>C)
19g.41984917C>TCA406052037ATP1A3c.1032+1G>A (n.1032+1G>A)
c.993+1G>A (n.993+1G>A)
n.307G>A
c.1026+1G>A (n.1026+1G>A)
c.903+1G>A (n.903+1G>A)
19g.41984918A>CCA507695356ATP1A3c.1032T>G (p.Thr344=)
c.993T>G (p.Thr331=)
n.306T>G
c.1026T>G (p.Thr342=)
c.903T>G (p.Thr301=)
19g.41984918A>GCA507695357ATP1A3c.1032T>C (p.Thr344=)
c.993T>C (p.Thr331=)
n.306T>C
c.1026T>C (p.Thr342=)
c.903T>C (p.Thr301=)
19g.41984918A>TCA507695358ATP1A3c.1032T>A (p.Thr344=)
c.993T>A (p.Thr331=)
n.306T>A
c.1026T>A (p.Thr342=)
c.903T>A (p.Thr301=)
19g.41984919G>ACA406052041ATP1A3c.1031C>T (p.Thr344Ile)
c.992C>T (p.Thr331Ile)
n.305C>T
c.1025C>T (p.Thr342Ile)
c.902C>T (p.Thr301Ile)
ClinVar dbSNP
19g.41984919G>CCA406052044ATP1A3c.1031C>G (p.Thr344Ser)
c.992C>G (p.Thr331Ser)
n.305C>G
c.1025C>G (p.Thr342Ser)
c.902C>G (p.Thr301Ser)
19g.41984919G=CA2336727970ATP1A3c.1031C= (p.Thr344=)
c.992C= (p.Thr331=)
n.305C=
c.1025C= (p.Thr342=)
c.902C= (p.Thr301=)
19g.41984919G>TCA406052045ATP1A3c.1031C>A (p.Thr344Asn)
c.992C>A (p.Thr331Asn)
n.305C>A
c.1025C>A (p.Thr342Asn)
c.902C>A (p.Thr301Asn)
19g.41984920T>ACA406052048ATP1A3c.1030A>T (p.Thr344Ser)
c.991A>T (p.Thr331Ser)
n.304A>T
c.1024A>T (p.Thr342Ser)
c.901A>T (p.Thr301Ser)
19g.41984920T>CCA406052051ATP1A3c.1030A>G (p.Thr344Ala)
c.991A>G (p.Thr331Ala)
n.304A>G
c.1024A>G (p.Thr342Ala)
c.901A>G (p.Thr301Ala)
19g.41984920T>GCA406052053ATP1A3c.1030A>C (p.Thr344Pro)
c.991A>C (p.Thr331Pro)
n.304A>C
c.1024A>C (p.Thr342Pro)
c.901A>C (p.Thr301Pro)
ClinVar
19g.41984921G>ACA507695359ATP1A3c.1029C>T (p.Val343=)
c.990C>T (p.Val330=)
n.303C>T
c.1023C>T (p.Val341=)
c.900C>T (p.Val300=)
ClinVar dbSNP gnomAD v4
19g.41984921G>CCA507695360ATP1A3c.1029C>G (p.Val343=)
c.990C>G (p.Val330=)
n.303C>G
c.1023C>G (p.Val341=)
c.900C>G (p.Val300=)
19g.41984921G>TCA507695361ATP1A3c.1029C>A (p.Val343=)
c.990C>A (p.Val330=)
n.303C>A
c.1023C>A (p.Val341=)
c.900C>A (p.Val300=)
19g.41984922A>CCA406052056ATP1A3c.1028T>G (p.Val343Gly)
c.989T>G (p.Val330Gly)
n.302T>G
c.1022T>G (p.Val341Gly)
c.899T>G (p.Val300Gly)
19g.41984922A>GCA406052059ATP1A3c.1028T>C (p.Val343Ala)
c.989T>C (p.Val330Ala)
n.302T>C
c.1022T>C (p.Val341Ala)
c.899T>C (p.Val300Ala)
19g.41984922A>TCA406052062ATP1A3c.1028T>A (p.Val343Asp)
c.989T>A (p.Val330Asp)
n.302T>A
c.1022T>A (p.Val341Asp)
c.899T>A (p.Val300Asp)
19g.41984923C>ACA406052065ATP1A3c.1027G>T (p.Val343Phe)
c.988G>T (p.Val330Phe)
n.301G>T
c.1021G>T (p.Val341Phe)
c.898G>T (p.Val300Phe)
19g.41984923C>GCA406052067ATP1A3c.1027G>C (p.Val343Leu)
c.988G>C (p.Val330Leu)
n.301G>C
c.1021G>C (p.Val341Leu)
c.898G>C (p.Val300Leu)
19g.41984923C>TCA406052070ATP1A3c.1027G>A (p.Val343Ile)
c.988G>A (p.Val330Ile)
n.301G>A
c.1021G>A (p.Val341Ile)
c.898G>A (p.Val300Ile)
19g.41984924A>CCA507695362ATP1A3c.1026T>G (p.Thr342=)
c.987T>G (p.Thr329=)
n.300T>G
c.1020T>G (p.Thr340=)
c.897T>G (p.Thr299=)
19g.41984924A>GCA507695363ATP1A3c.1026T>C (p.Thr342=)
c.987T>C (p.Thr329=)
n.300T>C
c.1020T>C (p.Thr340=)
c.897T>C (p.Thr299=)
19g.41984924A>TCA507695364ATP1A3c.1026T>A (p.Thr342=)
c.987T>A (p.Thr329=)
n.300T>A
c.1020T>A (p.Thr340=)
c.897T>A (p.Thr299=)
19g.41984925G>ACA406052082ATP1A3c.1025C>T (p.Thr342Ile)
c.986C>T (p.Thr329Ile)
n.299C>T
c.1019C>T (p.Thr340Ile)
c.896C>T (p.Thr299Ile)
19g.41984925G>CCA406052076ATP1A3c.1025C>G (p.Thr342Ser)
c.986C>G (p.Thr329Ser)
n.299C>G
c.1019C>G (p.Thr340Ser)
c.896C>G (p.Thr299Ser)
19g.41984925G>TCA406052073ATP1A3c.1025C>A (p.Thr342Asn)
c.986C>A (p.Thr329Asn)
n.299C>A
c.1019C>A (p.Thr340Asn)
c.896C>A (p.Thr299Asn)
19g.41984926T>ACA406052088ATP1A3c.1024A>T (p.Thr342Ser)
c.985A>T (p.Thr329Ser)
n.298A>T
c.1018A>T (p.Thr340Ser)
c.895A>T (p.Thr299Ser)
19g.41984926T>CCA406052086ATP1A3c.1024A>G (p.Thr342Ala)
c.985A>G (p.Thr329Ala)
n.298A>G
c.1018A>G (p.Thr340Ala)
c.895A>G (p.Thr299Ala)
19g.41984926T>GCA406052091ATP1A3c.1024A>C (p.Thr342Pro)
c.985A>C (p.Thr329Pro)
n.298A>C
c.1018A>C (p.Thr340Pro)
c.895A>C (p.Thr299Pro)
19g.41984927G>ACA507695365ATP1A3c.1023C>T (p.Ala341=)
c.984C>T (p.Ala328=)
n.297C>T
c.1017C>T (p.Ala339=)
c.894C>T (p.Ala298=)
19g.41984927G>CCA507695366ATP1A3c.1023C>G (p.Ala341=)
c.984C>G (p.Ala328=)
n.297C>G
c.1017C>G (p.Ala339=)
c.894C>G (p.Ala298=)
gnomAD v4
19g.41984927G>TCA507695367ATP1A3c.1023C>A (p.Ala341=)
c.984C>A (p.Ala328=)
n.297C>A
c.1017C>A (p.Ala339=)
c.894C>A (p.Ala298=)
19g.41984928G>ACA406052093ATP1A3c.1022C>T (p.Ala341Val)
c.983C>T (p.Ala328Val)
n.296C>T
c.1016C>T (p.Ala339Val)
c.893C>T (p.Ala298Val)
gnomAD v4
19g.41984928G>CCA406052096ATP1A3c.1022C>G (p.Ala341Gly)
c.983C>G (p.Ala328Gly)
n.296C>G
c.1016C>G (p.Ala339Gly)
c.893C>G (p.Ala298Gly)
19g.41984928G>TCA406052098ATP1A3c.1022C>A (p.Ala341Asp)
c.983C>A (p.Ala328Asp)
n.296C>A
c.1016C>A (p.Ala339Asp)
c.893C>A (p.Ala298Asp)
19g.41984929C>ACA406052101ATP1A3c.1021G>T (p.Ala341Ser)
c.982G>T (p.Ala328Ser)
n.295G>T
c.1015G>T (p.Ala339Ser)
c.892G>T (p.Ala298Ser)
19g.41984929C>GCA406052103ATP1A3c.1021G>C (p.Ala341Pro)
c.982G>C (p.Ala328Pro)
n.295G>C
c.1015G>C (p.Ala339Pro)
c.892G>C (p.Ala298Pro)
19g.41984929C>TCA406052106ATP1A3c.1021G>A (p.Ala341Thr)
c.982G>A (p.Ala328Thr)
n.295G>A
c.1015G>A (p.Ala339Thr)
c.892G>A (p.Ala298Thr)
19g.41984929_41984932delinsCCAGCA2336727971ATP1A3c.1018_1021delinsCTGG (p.Leu340=)
c.979_982delinsCTGG (p.Leu327=)
n.292_295delinsCTGG
c.1012_1015delinsCTGG (p.Leu338=)
c.889_892delinsCTGG (p.Leu297=)
19g.41984930C>ACA507695368ATP1A3c.1020G>T (p.Leu340=)
c.981G>T (p.Leu327=)
n.294G>T
c.1014G>T (p.Leu338=)
c.891G>T (p.Leu297=)
19g.41984930C>GCA507695369ATP1A3c.1020G>C (p.Leu340=)
c.981G>C (p.Leu327=)
n.294G>C
c.1014G>C (p.Leu338=)
c.891G>C (p.Leu297=)
19g.41984930C>TCA507695370ATP1A3c.1020G>A (p.Leu340=)
c.981G>A (p.Leu327=)
n.294G>A
c.1014G>A (p.Leu338=)
c.891G>A (p.Leu297=)
19g.41984933_41984935delCA346002ATP1A3c.1018_1020del (p.Leu340del)
c.979_981del (p.Leu327del)
n.292_294del
c.1012_1014del (p.Leu338del)
c.889_891del (p.Leu297del)
dbSNP
19g.41984931A>CCA406052113ATP1A3c.1019T>G (p.Leu340Arg)
c.980T>G (p.Leu327Arg)
n.293T>G
c.1013T>G (p.Leu338Arg)
c.890T>G (p.Leu297Arg)
19g.41984931A>GCA406052114ATP1A3c.1019T>C (p.Leu340Pro)
c.980T>C (p.Leu327Pro)
n.293T>C
c.1013T>C (p.Leu338Pro)
c.890T>C (p.Leu297Pro)
19g.41984931A>TCA406052117ATP1A3c.1019T>A (p.Leu340Gln)
c.980T>A (p.Leu327Gln)
n.293T>A
c.1013T>A (p.Leu338Gln)
c.890T>A (p.Leu297Gln)
19g.41984932G>ACA507695371ATP1A3c.1018C>T (p.Leu340=)
c.979C>T (p.Leu327=)
n.292C>T
c.1012C>T (p.Leu338=)
c.889C>T (p.Leu297=)
19g.41984932G>CCA406052120ATP1A3c.1018C>G (p.Leu340Val)
c.979C>G (p.Leu327Val)
n.292C>G
c.1012C>G (p.Leu338Val)
c.889C>G (p.Leu297Val)
19g.41984932G>TCA406052123ATP1A3c.1018C>A (p.Leu340Met)
c.979C>A (p.Leu327Met)
n.292C>A
c.1012C>A (p.Leu338Met)
c.889C>A (p.Leu297Met)
19g.41984933C>ACA507695372ATP1A3c.1017G>T (p.Leu339=)
c.978G>T (p.Leu326=)
n.291G>T
c.1011G>T (p.Leu337=)
c.888G>T (p.Leu296=)
gnomAD v4 COSMIC
19g.41984933C=CA2336727972ATP1A3c.1017G= (p.Leu339=)
c.978G= (p.Leu326=)
n.291G=
c.1011G= (p.Leu337=)
c.888G= (p.Leu296=)
19g.41984933C>GCA9467755ATP1A3c.1017G>C (p.Leu339=)
c.978G>C (p.Leu326=)
n.291G>C
c.1011G>C (p.Leu337=)
c.888G>C (p.Leu296=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41984933C>TCA507695373ATP1A3c.1017G>A (p.Leu339=)
c.978G>A (p.Leu326=)
n.291G>A
c.1011G>A (p.Leu337=)
c.888G>A (p.Leu296=)
19g.41984934A=CA2336727973ATP1A3c.1016T= (p.Leu339=)
c.977T= (p.Leu326=)
n.290T=
c.1010T= (p.Leu337=)
c.887T= (p.Leu296=)
19g.41984934A>CCA406052127ATP1A3c.1016T>G (p.Leu339Arg)
c.977T>G (p.Leu326Arg)
n.290T>G
c.1010T>G (p.Leu337Arg)
c.887T>G (p.Leu296Arg)
ClinVar dbSNP
19g.41984934A>GCA406052131ATP1A3c.1016T>C (p.Leu339Pro)
c.977T>C (p.Leu326Pro)
n.290T>C
c.1010T>C (p.Leu337Pro)
c.887T>C (p.Leu296Pro)
ClinVar
19g.41984934A>TCA406052129ATP1A3c.1016T>A (p.Leu339Gln)
c.977T>A (p.Leu326Gln)
n.290T>A
c.1010T>A (p.Leu337Gln)
c.887T>A (p.Leu296Gln)
19g.41984935G>ACA507695374ATP1A3c.1015C>T (p.Leu339=)
c.976C>T (p.Leu326=)
n.289C>T
c.1009C>T (p.Leu337=)
c.886C>T (p.Leu296=)
19g.41984935G>CCA406052134ATP1A3c.1015C>G (p.Leu339Val)
c.976C>G (p.Leu326Val)
n.289C>G
c.1009C>G (p.Leu337Val)
c.886C>G (p.Leu296Val)
19g.41984935G>TCA406052135ATP1A3c.1015C>A (p.Leu339Met)
c.976C>A (p.Leu326Met)
n.289C>A
c.1009C>A (p.Leu337Met)
c.886C>A (p.Leu296Met)
19g.41984936A=CA2336727974ATP1A3c.1014T= (p.Gly338=)
c.975T= (p.Gly325=)
n.288T=
c.1008T= (p.Gly336=)
c.885T= (p.Gly295=)
19g.41984936A>CCA507695375ATP1A3c.1014T>G (p.Gly338=)
c.975T>G (p.Gly325=)
n.288T>G
c.1008T>G (p.Gly336=)
c.885T>G (p.Gly295=)
dbSNP
19g.41984936A>GCA507695376ATP1A3c.1014T>C (p.Gly338=)
c.975T>C (p.Gly325=)
n.288T>C
c.1008T>C (p.Gly336=)
c.885T>C (p.Gly295=)
19g.41984936A>TCA507695377ATP1A3c.1014T>A (p.Gly338=)
c.975T>A (p.Gly325=)
n.288T>A
c.1008T>A (p.Gly336=)
c.885T>A (p.Gly295=)
19g.41984937C>ACA406052138ATP1A3c.1013G>T (p.Gly338Val)
c.974G>T (p.Gly325Val)
n.287G>T
c.1007G>T (p.Gly336Val)
c.884G>T (p.Gly295Val)
19g.41984937C=CA2336727975ATP1A3c.1013G= (p.Gly338=)
c.974G= (p.Gly325=)
n.287G=
c.1007G= (p.Gly336=)
c.884G= (p.Gly295=)
19g.41984937C>GCA406052140ATP1A3c.1013G>C (p.Gly338Ala)
c.974G>C (p.Gly325Ala)
n.287G>C
c.1007G>C (p.Gly336Ala)
c.884G>C (p.Gly295Ala)
19g.41984937C>TCA279013ATP1A3c.1013G>A (p.Gly338Asp)
c.974G>A (p.Gly325Asp)
n.287G>A
c.1007G>A (p.Gly336Asp)
c.884G>A (p.Gly295Asp)
ClinVar dbSNP
19g.41984938C>ACA406052143ATP1A3c.1012G>T (p.Gly338Cys)
c.973G>T (p.Gly325Cys)
n.286G>T
c.1006G>T (p.Gly336Cys)
c.883G>T (p.Gly295Cys)
19g.41984938C>GCA406052146ATP1A3c.1012G>C (p.Gly338Arg)
c.973G>C (p.Gly325Arg)
n.286G>C
c.1006G>C (p.Gly336Arg)
c.883G>C (p.Gly295Arg)
ClinVar dbSNP
19g.41984938C>TCA406052148ATP1A3c.1012G>A (p.Gly338Ser)
c.973G>A (p.Gly325Ser)
n.286G>A
c.1006G>A (p.Gly336Ser)
c.883G>A (p.Gly295Ser)
19g.41984939_41984941delCA2695228880ATP1A3c.1010_1012del (p.Glu337del)
c.971_973del (p.Glu324del)
n.284_286del
c.1004_1006del (p.Glu335del)
c.881_883del (p.Glu294del)
19g.41984939C>ACA406052150ATP1A3c.1011G>T (p.Glu337Asp)
c.972G>T (p.Glu324Asp)
n.285G>T
c.1005G>T (p.Glu335Asp)
c.882G>T (p.Glu294Asp)
19g.41984939C>GCA406052151ATP1A3c.1011G>C (p.Glu337Asp)
c.972G>C (p.Glu324Asp)
n.285G>C
c.1005G>C (p.Glu335Asp)
c.882G>C (p.Glu294Asp)
19g.41984939C>TCA507695378ATP1A3c.1011G>A (p.Glu337=)
c.972G>A (p.Glu324=)
n.285G>A
c.1005G>A (p.Glu335=)
c.882G>A (p.Glu294=)
19g.41984940T>ACA406052156ATP1A3c.1010A>T (p.Glu337Val)
c.971A>T (p.Glu324Val)
n.284A>T
c.1004A>T (p.Glu335Val)
c.881A>T (p.Glu294Val)
19g.41984940T>CCA204723ATP1A3c.1010A>G (p.Glu337Gly)
c.971A>G (p.Glu324Gly)
n.284A>G
c.1004A>G (p.Glu335Gly)
c.881A>G (p.Glu294Gly)
ClinVar dbSNP
19g.41984940T>GCA406052153ATP1A3c.1010A>C (p.Glu337Ala)
c.971A>C (p.Glu324Ala)
n.284A>C
c.1004A>C (p.Glu335Ala)
c.881A>C (p.Glu294Ala)
19g.41984940T=CA2336727976ATP1A3c.1010A= (p.Glu337=)
c.971A= (p.Glu324=)
n.284A=
c.1004A= (p.Glu335=)
c.881A= (p.Glu294=)
19g.41984941C>ACA406052160ATP1A3c.1009G>T (p.Glu337Ter)
c.970G>T (p.Glu324Ter)
n.283G>T
c.1003G>T (p.Glu335Ter)
c.880G>T (p.Glu294Ter)
19g.41984941C>GCA406052162ATP1A3c.1009G>C (p.Glu337Gln)
c.970G>C (p.Glu324Gln)
n.283G>C
c.1003G>C (p.Glu335Gln)
c.880G>C (p.Glu294Gln)
19g.41984941C>TCA406052163ATP1A3c.1009G>A (p.Glu337Lys)
c.970G>A (p.Glu324Lys)
n.283G>A
c.1003G>A (p.Glu335Lys)
c.880G>A (p.Glu294Lys)
19g.41984942T>ACA507695379ATP1A3c.1008A>T (p.Pro336=)
c.969A>T (p.Pro323=)
n.282A>T
c.1002A>T (p.Pro334=)
c.879A>T (p.Pro293=)
19g.41984942T>CCA507695380ATP1A3c.1008A>G (p.Pro336=)
c.969A>G (p.Pro323=)
n.282A>G
c.1002A>G (p.Pro334=)
c.879A>G (p.Pro293=)
dbSNP
19g.41984942T>GCA507695381ATP1A3c.1008A>C (p.Pro336=)
c.969A>C (p.Pro323=)
n.282A>C
c.1002A>C (p.Pro334=)
c.879A>C (p.Pro293=)
19g.41984942T=CA2336727977ATP1A3c.1008A= (p.Pro336=)
c.969A= (p.Pro323=)
n.282A=
c.1002A= (p.Pro334=)
c.879A= (p.Pro293=)
19g.41984943G>ACA406052166ATP1A3c.1007C>T (p.Pro336Leu)
c.968C>T (p.Pro323Leu)
n.281C>T
c.1001C>T (p.Pro334Leu)
c.878C>T (p.Pro293Leu)
ClinVar dbSNP
19g.41984943G>CCA406052168ATP1A3c.1007C>G (p.Pro336Arg)
c.968C>G (p.Pro323Arg)
n.281C>G
c.1001C>G (p.Pro334Arg)
c.878C>G (p.Pro293Arg)
19g.41984943G=CA2336727978ATP1A3c.1007C= (p.Pro336=)
c.968C= (p.Pro323=)
n.281C=
c.1001C= (p.Pro334=)
c.878C= (p.Pro293=)
19g.41984943G>TCA406052171ATP1A3c.1007C>A (p.Pro336Gln)
c.968C>A (p.Pro323Gln)
n.281C>A
c.1001C>A (p.Pro334Gln)
c.878C>A (p.Pro293Gln)
19g.41984944G>ACA249413ATP1A3c.1006C>T (p.Pro336Ser)
c.967C>T (p.Pro323Ser)
n.280C>T
c.1000C>T (p.Pro334Ser)
c.877C>T (p.Pro293Ser)
ClinVar dbSNP
19g.41984944G>CCA406052174ATP1A3c.1006C>G (p.Pro336Ala)
c.967C>G (p.Pro323Ala)
n.280C>G
c.1000C>G (p.Pro334Ala)
c.877C>G (p.Pro293Ala)
19g.41984944G=CA2336727979ATP1A3c.1006C= (p.Pro336=)
c.967C= (p.Pro323=)
n.280C=
c.1000C= (p.Pro334=)
c.877C= (p.Pro293=)
19g.41984944G>TCA406052177ATP1A3c.1006C>A (p.Pro336Thr)
c.967C>A (p.Pro323Thr)
n.280C>A
c.1000C>A (p.Pro334Thr)
c.877C>A (p.Pro293Thr)
19g.41984945G>ACA507695384ATP1A3c.1005C>T (p.Val335=)
c.966C>T (p.Val322=)
n.279C>T
c.999C>T (p.Val333=)
c.876C>T (p.Val292=)
dbSNP gnomAD v2 gnomAD v4
19g.41984945G>CCA507695383ATP1A3c.1005C>G (p.Val335=)
c.966C>G (p.Val322=)
n.279C>G
c.999C>G (p.Val333=)
c.876C>G (p.Val292=)
19g.41984945G=CA2336727980ATP1A3c.1005C= (p.Val335=)
c.966C= (p.Val322=)
n.279C=
c.999C= (p.Val333=)
c.876C= (p.Val292=)
19g.41984945G>TCA507695382ATP1A3c.1005C>A (p.Val335=)
c.966C>A (p.Val322=)
n.279C>A
c.999C>A (p.Val333=)
c.876C>A (p.Val292=)
19g.41984946A=CA2336727981ATP1A3c.1004T= (p.Val335=)
c.965T= (p.Val322=)
n.278T=
c.998T= (p.Val333=)
c.875T= (p.Val292=)
19g.41984946A>CCA406052180ATP1A3c.1004T>G (p.Val335Gly)
c.965T>G (p.Val322Gly)
n.278T>G
c.998T>G (p.Val333Gly)
c.875T>G (p.Val292Gly)
19g.41984946A>GCA406052183ATP1A3c.1004T>C (p.Val335Ala)
c.965T>C (p.Val322Ala)
n.278T>C
c.998T>C (p.Val333Ala)
c.875T>C (p.Val292Ala)
19g.41984946A>TCA346001ATP1A3c.1004T>A (p.Val335Asp)
c.965T>A (p.Val322Asp)
n.278T>A
c.998T>A (p.Val333Asp)
c.875T>A (p.Val292Asp)
dbSNP
19g.41984947C>ACA406052188ATP1A3c.1003G>T (p.Val335Phe)
c.964G>T (p.Val322Phe)
n.277G>T
c.997G>T (p.Val333Phe)
c.874G>T (p.Val292Phe)
19g.41984947C>GCA406052190ATP1A3c.1003G>C (p.Val335Leu)
c.964G>C (p.Val322Leu)
n.277G>C
c.997G>C (p.Val333Leu)
c.874G>C (p.Val292Leu)
19g.41984947C>TCA406052186ATP1A3c.1003G>A (p.Val335Ile)
c.964G>A (p.Val322Ile)
n.277G>A
c.997G>A (p.Val333Ile)
c.874G>A (p.Val292Ile)
19g.41984948A>CCA406052192ATP1A3c.1002T>G (p.Asn334Lys)
c.963T>G (p.Asn321Lys)
n.276T>G
c.996T>G (p.Asn332Lys)
c.873T>G (p.Asn291Lys)
19g.41984948A>GCA507695385ATP1A3c.1002T>C (p.Asn334=)
c.963T>C (p.Asn321=)
n.276T>C
c.996T>C (p.Asn332=)
c.873T>C (p.Asn291=)
gnomAD v4
19g.41984948A>TCA406052194ATP1A3c.1002T>A (p.Asn334Lys)
c.963T>A (p.Asn321Lys)
n.276T>A
c.996T>A (p.Asn332Lys)
c.873T>A (p.Asn291Lys)
19g.41984949T>ACA406052197ATP1A3c.1001A>T (p.Asn334Ile)
c.962A>T (p.Asn321Ile)
n.275A>T
c.995A>T (p.Asn332Ile)
c.872A>T (p.Asn291Ile)
ClinVar dbSNP
19g.41984949T>CCA406052198ATP1A3c.1001A>G (p.Asn334Ser)
c.962A>G (p.Asn321Ser)
n.275A>G
c.995A>G (p.Asn332Ser)
c.872A>G (p.Asn291Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41984949T>GCA406052200ATP1A3c.1001A>C (p.Asn334Thr)
c.962A>C (p.Asn321Thr)
n.275A>C
c.995A>C (p.Asn332Thr)
c.872A>C (p.Asn291Thr)
19g.41984949T=CA2336727982ATP1A3c.1001A= (p.Asn334=)
c.962A= (p.Asn321=)
n.275A=
c.995A= (p.Asn332=)
c.872A= (p.Asn291=)
19g.41984950dupCA645620113ATP1A3c.1001dup (p.Asn334LysfsTer?)
c.962dup (p.Asn321LysfsTer?)
n.275dup
c.995dup (p.Asn332LysfsTer?)
c.872dup (p.Asn291LysfsTer?)
COSMIC
19g.41984949_41984950insACA507695386ATP1A3c.1000_1001insT (p.Asn334IlefsTer?)
c.961_962insT (p.Asn321IlefsTer?)
n.274_275insT
c.994_995insT (p.Asn332IlefsTer?)
c.871_872insT (p.Asn291IlefsTer?)
19g.41984950T>ACA406052207ATP1A3c.1000A>T (p.Asn334Tyr)
c.961A>T (p.Asn321Tyr)
n.274A>T
c.994A>T (p.Asn332Tyr)
c.871A>T (p.Asn291Tyr)
19g.41984950T>CCA406052202ATP1A3c.1000A>G (p.Asn334Asp)
c.961A>G (p.Asn321Asp)
n.274A>G
c.994A>G (p.Asn332Asp)
c.871A>G (p.Asn291Asp)
19g.41984950T>GCA406052204ATP1A3c.1000A>C (p.Asn334His)
c.961A>C (p.Asn321His)
n.274A>C
c.994A>C (p.Asn332His)
c.871A>C (p.Asn291His)
ClinVar
19g.41984951G>ACA507695387ATP1A3c.999C>T (p.Ala333=)
c.960C>T (p.Ala320=)
n.273C>T
c.993C>T (p.Ala331=)
c.870C>T (p.Ala290=)
19g.41984951G>CCA507695388ATP1A3c.999C>G (p.Ala333=)
c.960C>G (p.Ala320=)
n.273C>G
c.993C>G (p.Ala331=)
c.870C>G (p.Ala290=)
19g.41984951G>TCA507695389ATP1A3c.999C>A (p.Ala333=)
c.960C>A (p.Ala320=)
n.273C>A
c.993C>A (p.Ala331=)
c.870C>A (p.Ala290=)
19g.41984952G>ACA406052209ATP1A3c.998C>T (p.Ala333Val)
c.959C>T (p.Ala320Val)
n.272C>T
c.992C>T (p.Ala331Val)
c.869C>T (p.Ala290Val)
19g.41984952G>CCA406052210ATP1A3c.998C>G (p.Ala333Gly)
c.959C>G (p.Ala320Gly)
n.272C>G
c.992C>G (p.Ala331Gly)
c.869C>G (p.Ala290Gly)
19g.41984952G>TCA406052213ATP1A3c.998C>A (p.Ala333Asp)
c.959C>A (p.Ala320Asp)
n.272C>A
c.992C>A (p.Ala331Asp)
c.869C>A (p.Ala290Asp)
gnomAD v4
19g.41984953C>ACA406052216ATP1A3c.997G>T (p.Ala333Ser)
c.958G>T (p.Ala320Ser)
n.271G>T
c.991G>T (p.Ala331Ser)
c.868G>T (p.Ala290Ser)
19g.41984953C=CA2336727983ATP1A3c.997G= (p.Ala333=)
c.958G= (p.Ala320=)
n.271G=
c.991G= (p.Ala331=)
c.868G= (p.Ala290=)
19g.41984953C>GCA406052217ATP1A3c.997G>C (p.Ala333Pro)
c.958G>C (p.Ala320Pro)
n.271G>C
c.991G>C (p.Ala331Pro)
c.868G>C (p.Ala290Pro)
ClinVar dbSNP
19g.41984953C>TCA10586037ATP1A3c.997G>A (p.Ala333Thr)
c.958G>A (p.Ala320Thr)
n.271G>A
c.991G>A (p.Ala331Thr)
c.868G>A (p.Ala290Thr)
ClinVar dbSNP
19g.41984954C>ACA507695390ATP1A3c.996G>T (p.Val332=)
c.957G>T (p.Val319=)
n.270G>T
c.990G>T (p.Val330=)
c.867G>T (p.Val289=)
19g.41984954C>GCA507695391ATP1A3c.996G>C (p.Val332=)
c.957G>C (p.Val319=)
n.270G>C
c.990G>C (p.Val330=)
c.867G>C (p.Val289=)
19g.41984954C>TCA507695392ATP1A3c.996G>A (p.Val332=)
c.957G>A (p.Val319=)
n.270G>A
c.990G>A (p.Val330=)
c.867G>A (p.Val289=)
gnomAD v4
19g.41984955A>CCA406052224ATP1A3c.995T>G (p.Val332Gly)
c.956T>G (p.Val319Gly)
n.269T>G
c.989T>G (p.Val330Gly)
c.866T>G (p.Val289Gly)
19g.41984955A>GCA406052225ATP1A3c.995T>C (p.Val332Ala)
c.956T>C (p.Val319Ala)
n.269T>C
c.989T>C (p.Val330Ala)
c.866T>C (p.Val289Ala)
19g.41984955A>TCA406052221ATP1A3c.995T>A (p.Val332Glu)
c.956T>A (p.Val319Glu)
n.269T>A
c.989T>A (p.Val330Glu)
c.866T>A (p.Val289Glu)
19g.41984956C>ACA406052229ATP1A3c.994G>T (p.Val332Leu)
c.955G>T (p.Val319Leu)
n.268G>T
c.988G>T (p.Val330Leu)
c.865G>T (p.Val289Leu)
19g.41984956C>GCA406052234ATP1A3c.994G>C (p.Val332Leu)
c.955G>C (p.Val319Leu)
n.268G>C
c.988G>C (p.Val330Leu)
c.865G>C (p.Val289Leu)
19g.41984956C>TCA406052232ATP1A3c.994G>A (p.Val332Met)
c.955G>A (p.Val319Met)
n.268G>A
c.988G>A (p.Val330Met)
c.865G>A (p.Val289Met)
gnomAD v4
19g.41984957G>ACA9467756ATP1A3c.993C>T (p.Ile331=)
c.954C>T (p.Ile318=)
n.267C>T
c.987C>T (p.Ile329=)
c.864C>T (p.Ile288=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41984957G>CCA406052240ATP1A3c.993C>G (p.Ile331Met)
c.954C>G (p.Ile318Met)
n.267C>G
c.987C>G (p.Ile329Met)
c.864C>G (p.Ile288Met)
ClinVar dbSNP
19g.41984957G=CA2336727984ATP1A3c.993C= (p.Ile331=)
c.954C= (p.Ile318=)
n.267C=
c.987C= (p.Ile329=)
c.864C= (p.Ile288=)
19g.41984957G>TCA9467757ATP1A3c.993C>A (p.Ile331=)
c.954C>A (p.Ile318=)
n.267C>A
c.987C>A (p.Ile329=)
c.864C>A (p.Ile288=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41984958A>CCA406052244ATP1A3c.992T>G (p.Ile331Ser)
c.953T>G (p.Ile318Ser)
n.266T>G
c.986T>G (p.Ile329Ser)
c.863T>G (p.Ile288Ser)
19g.41984958A>GCA406052246ATP1A3c.992T>C (p.Ile331Thr)
c.953T>C (p.Ile318Thr)
n.266T>C
c.986T>C (p.Ile329Thr)
c.863T>C (p.Ile288Thr)
19g.41984958A>TCA406052250ATP1A3c.992T>A (p.Ile331Asn)
c.953T>A (p.Ile318Asn)
n.266T>A
c.986T>A (p.Ile329Asn)
c.863T>A (p.Ile288Asn)
19g.41984959T>ACA406052254ATP1A3c.991A>T (p.Ile331Phe)
c.952A>T (p.Ile318Phe)
n.265A>T
c.985A>T (p.Ile329Phe)
c.862A>T (p.Ile288Phe)
19g.41984959T>CCA406052258ATP1A3c.991A>G (p.Ile331Val)
c.952A>G (p.Ile318Val)
n.265A>G
c.985A>G (p.Ile329Val)
c.862A>G (p.Ile288Val)
19g.41984959T>GCA406052260ATP1A3c.991A>C (p.Ile331Leu)
c.952A>C (p.Ile318Leu)
n.265A>C
c.985A>C (p.Ile329Leu)
c.862A>C (p.Ile288Leu)
19g.41984960G>ACA507695393ATP1A3c.990C>T (p.Ile330=)
c.951C>T (p.Ile317=)
n.264C>T
c.984C>T (p.Ile328=)
c.861C>T (p.Ile287=)
19g.41984960G>CCA406052262ATP1A3c.990C>G (p.Ile330Met)
c.951C>G (p.Ile317Met)
n.264C>G
c.984C>G (p.Ile328Met)
c.861C>G (p.Ile287Met)
19g.41984960G=CA2336727985ATP1A3c.990C= (p.Ile330=)
c.951C= (p.Ile317=)
n.264C=
c.984C= (p.Ile328=)
c.861C= (p.Ile287=)
19g.41984960G>TCA9467758ATP1A3c.990C>A (p.Ile330=)
c.951C>A (p.Ile317=)
n.264C>A
c.984C>A (p.Ile328=)
c.861C>A (p.Ile287=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41984961A>CCA406052266ATP1A3c.989T>G (p.Ile330Ser)
c.950T>G (p.Ile317Ser)
n.263T>G
c.983T>G (p.Ile328Ser)
c.860T>G (p.Ile287Ser)
19g.41984961A>GCA406052269ATP1A3c.989T>C (p.Ile330Thr)
c.950T>C (p.Ile317Thr)
n.263T>C
c.983T>C (p.Ile328Thr)
c.860T>C (p.Ile287Thr)
19g.41984961A>TCA406052271ATP1A3c.989T>A (p.Ile330Asn)
c.950T>A (p.Ile317Asn)
n.263T>A
c.983T>A (p.Ile328Asn)
c.860T>A (p.Ile287Asn)
19g.41984962T>ACA406052277ATP1A3c.988A>T (p.Ile330Phe)
c.949A>T (p.Ile317Phe)
n.262A>T
c.982A>T (p.Ile328Phe)
c.859A>T (p.Ile287Phe)
19g.41984962T>CCA406052274ATP1A3c.988A>G (p.Ile330Val)
c.949A>G (p.Ile317Val)
n.262A>G
c.982A>G (p.Ile328Val)
c.859A>G (p.Ile287Val)
19g.41984962T>GCA406052273ATP1A3c.988A>C (p.Ile330Leu)
c.949A>C (p.Ile317Leu)
n.262A>C
c.982A>C (p.Ile328Leu)
c.859A>C (p.Ile287Leu)
19g.41984963G>ACA507695394ATP1A3c.987C>T (p.Gly329=)
c.948C>T (p.Gly316=)
n.261C>T
c.981C>T (p.Gly327=)
c.858C>T (p.Gly286=)
COSMIC
19g.41984963G>CCA507695395ATP1A3c.987C>G (p.Gly329=)
c.948C>G (p.Gly316=)
n.261C>G
c.981C>G (p.Gly327=)
c.858C>G (p.Gly286=)
19g.41984963G>TCA507695396ATP1A3c.987C>A (p.Gly329=)
c.948C>A (p.Gly316=)
n.261C>A
c.981C>A (p.Gly327=)
c.858C>A (p.Gly286=)
19g.41984964C>ACA406052281ATP1A3c.986G>T (p.Gly329Val)
c.947G>T (p.Gly316Val)
n.260G>T
c.980G>T (p.Gly327Val)
c.857G>T (p.Gly286Val)
ClinVar dbSNP
19g.41984964C>GCA406052283ATP1A3c.986G>C (p.Gly329Ala)
c.947G>C (p.Gly316Ala)
n.260G>C
c.980G>C (p.Gly327Ala)
c.857G>C (p.Gly286Ala)
19g.41984964C>TCA406052286ATP1A3c.986G>A (p.Gly329Asp)
c.947G>A (p.Gly316Asp)
n.260G>A
c.980G>A (p.Gly327Asp)
c.857G>A (p.Gly286Asp)
19g.41984965C>ACA406052288ATP1A3c.985G>T (p.Gly329Cys)
c.946G>T (p.Gly316Cys)
n.259G>T
c.979G>T (p.Gly327Cys)
c.856G>T (p.Gly286Cys)
19g.41984965C=CA2336727986ATP1A3c.985G= (p.Gly329=)
c.946G= (p.Gly316=)
n.259G=
c.979G= (p.Gly327=)
c.856G= (p.Gly286=)
19g.41984965C>GCA406052291ATP1A3c.985G>C (p.Gly329Arg)
c.946G>C (p.Gly316Arg)
n.259G>C
c.979G>C (p.Gly327Arg)
c.856G>C (p.Gly286Arg)
19g.41984965C>TCA358802ATP1A3c.985G>A (p.Gly329Ser)
c.946G>A (p.Gly316Ser)
n.259G>A
c.979G>A (p.Gly327Ser)
c.856G>A (p.Gly286Ser)
ClinVar dbSNP
19g.41984966G>ACA9467759ATP1A3c.984C>T (p.Ile328=)
c.945C>T (p.Ile315=)
n.258C>T
c.978C>T (p.Ile326=)
c.855C>T (p.Ile285=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41984966G>CCA406052296ATP1A3c.984C>G (p.Ile328Met)
c.945C>G (p.Ile315Met)
n.258C>G
c.978C>G (p.Ile326Met)
c.855C>G (p.Ile285Met)
19g.41984966G=CA2336727987ATP1A3c.984C= (p.Ile328=)
c.945C= (p.Ile315=)
n.258C=
c.978C= (p.Ile326=)
c.855C= (p.Ile285=)
19g.41984966G>TCA507695397ATP1A3c.984C>A (p.Ile328=)
c.945C>A (p.Ile315=)
n.258C>A
c.978C>A (p.Ile326=)
c.855C>A (p.Ile285=)
19g.41984967A>CCA406052298ATP1A3c.983T>G (p.Ile328Ser)
c.944T>G (p.Ile315Ser)
n.257T>G
c.977T>G (p.Ile326Ser)
c.854T>G (p.Ile285Ser)
19g.41984967A>GCA406052299ATP1A3c.983T>C (p.Ile328Thr)
c.944T>C (p.Ile315Thr)
n.257T>C
c.977T>C (p.Ile326Thr)
c.854T>C (p.Ile285Thr)
19g.41984967A>TCA406052302ATP1A3c.983T>A (p.Ile328Asn)
c.944T>A (p.Ile315Asn)
n.257T>A
c.977T>A (p.Ile326Asn)
c.854T>A (p.Ile285Asn)
19g.41984968T>ACA406052312ATP1A3c.982A>T (p.Ile328Phe)
c.943A>T (p.Ile315Phe)
n.256A>T
c.976A>T (p.Ile326Phe)
c.853A>T (p.Ile285Phe)
ClinVar
19g.41984968T>CCA406052308ATP1A3c.982A>G (p.Ile328Val)
c.943A>G (p.Ile315Val)
n.256A>G
c.976A>G (p.Ile326Val)
c.853A>G (p.Ile285Val)
19g.41984968T>GCA406052306ATP1A3c.982A>C (p.Ile328Leu)
c.943A>C (p.Ile315Leu)
n.256A>C
c.976A>C (p.Ile326Leu)
c.853A>C (p.Ile285Leu)
19g.41984969G>ACA9467760ATP1A3c.981C>T (p.Leu327=)
c.942C>T (p.Leu314=)
n.255C>T
c.975C>T (p.Leu325=)
c.852C>T (p.Leu284=)
ClinVar dbSNP ExAC gnomAD v4
19g.41984969G>CCA507695398ATP1A3c.981C>G (p.Leu327=)
c.942C>G (p.Leu314=)
n.255C>G
c.975C>G (p.Leu325=)
c.852C>G (p.Leu284=)
19g.41984969G=CA2336727988ATP1A3c.981C= (p.Leu327=)
c.942C= (p.Leu314=)
n.255C=
c.975C= (p.Leu325=)
c.852C= (p.Leu284=)
19g.41984969G>TCA507695399ATP1A3c.981C>A (p.Leu327=)
c.942C>A (p.Leu314=)
n.255C>A
c.975C>A (p.Leu325=)
c.852C>A (p.Leu284=)
gnomAD v4
19g.41984970A>CCA406052316ATP1A3c.980T>G (p.Leu327Arg)
c.941T>G (p.Leu314Arg)
n.254T>G
c.974T>G (p.Leu325Arg)
c.851T>G (p.Leu284Arg)
19g.41984970A>GCA406052319ATP1A3c.980T>C (p.Leu327Pro)
c.941T>C (p.Leu314Pro)
n.254T>C
c.974T>C (p.Leu325Pro)
c.851T>C (p.Leu284Pro)
19g.41984970A>TCA406052322ATP1A3c.980T>A (p.Leu327His)
c.941T>A (p.Leu314His)
n.254T>A
c.974T>A (p.Leu325His)
c.851T>A (p.Leu284His)
19g.41984971G>ACA406052325ATP1A3c.979C>T (p.Leu327Phe)
c.940C>T (p.Leu314Phe)
n.253C>T
c.973C>T (p.Leu325Phe)
c.850C>T (p.Leu284Phe)
19g.41984971G>CCA406052327ATP1A3c.979C>G (p.Leu327Val)
c.940C>G (p.Leu314Val)
n.253C>G
c.973C>G (p.Leu325Val)
c.850C>G (p.Leu284Val)
19g.41984971G>TCA406052329ATP1A3c.979C>A (p.Leu327Ile)
c.940C>A (p.Leu314Ile)
n.253C>A
c.973C>A (p.Leu325Ile)
c.850C>A (p.Leu284Ile)
19g.41984972G>ACA507695400ATP1A3c.978C>T (p.Phe326=)
c.939C>T (p.Phe313=)
n.252C>T
c.972C>T (p.Phe324=)
c.849C>T (p.Phe283=)
COSMIC
19g.41984972G>CCA406052332ATP1A3c.978C>G (p.Phe326Leu)
c.939C>G (p.Phe313Leu)
n.252C>G
c.972C>G (p.Phe324Leu)
c.849C>G (p.Phe283Leu)
19g.41984972G>TCA406052335ATP1A3c.978C>A (p.Phe326Leu)
c.939C>A (p.Phe313Leu)
n.252C>A
c.972C>A (p.Phe324Leu)
c.849C>A (p.Phe283Leu)
19g.41984973A>CCA406052337ATP1A3c.977T>G (p.Phe326Cys)
c.938T>G (p.Phe313Cys)
n.251T>G
c.971T>G (p.Phe324Cys)
c.848T>G (p.Phe283Cys)
19g.41984973A>GCA406052340ATP1A3c.977T>C (p.Phe326Ser)
c.938T>C (p.Phe313Ser)
n.251T>C
c.971T>C (p.Phe324Ser)
c.848T>C (p.Phe283Ser)
19g.41984973A>TCA406052341ATP1A3c.977T>A (p.Phe326Tyr)
c.938T>A (p.Phe313Tyr)
n.251T>A
c.971T>A (p.Phe324Tyr)
c.848T>A (p.Phe283Tyr)
19g.41984974A>CCA406052349ATP1A3c.976T>G (p.Phe326Val)
c.937T>G (p.Phe313Val)
n.250T>G
c.970T>G (p.Phe324Val)
c.847T>G (p.Phe283Val)
19g.41984974A>GCA406052345ATP1A3c.976T>C (p.Phe326Leu)
c.937T>C (p.Phe313Leu)
n.250T>C
c.970T>C (p.Phe324Leu)
c.847T>C (p.Phe283Leu)
19g.41984974A>TCA406052347ATP1A3c.976T>A (p.Phe326Ile)
c.937T>A (p.Phe313Ile)
n.250T>A
c.970T>A (p.Phe324Ile)
c.847T>A (p.Phe283Ile)
19g.41984975G>ACA507695401ATP1A3c.975C>T (p.Ile325=)
c.936C>T (p.Ile312=)
n.249C>T
c.969C>T (p.Ile323=)
c.846C>T (p.Ile282=)
19g.41984975G>CCA406052351ATP1A3c.975C>G (p.Ile325Met)
c.936C>G (p.Ile312Met)
n.249C>G
c.969C>G (p.Ile323Met)
c.846C>G (p.Ile282Met)
19g.41984975G=CA2336727989ATP1A3c.975C= (p.Ile325=)
c.936C= (p.Ile312=)
n.249C=
c.969C= (p.Ile323=)
c.846C= (p.Ile282=)
19g.41984975G>TCA308597208ATP1A3c.975C>A (p.Ile325=)
c.936C>A (p.Ile312=)
n.249C>A
c.969C>A (p.Ile323=)
c.846C>A (p.Ile282=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41984976A>CCA406052356ATP1A3c.974T>G (p.Ile325Ser)
c.935T>G (p.Ile312Ser)
n.248T>G
c.968T>G (p.Ile323Ser)
c.845T>G (p.Ile282Ser)
19g.41984976A>GCA406052359ATP1A3c.974T>C (p.Ile325Thr)
c.935T>C (p.Ile312Thr)
n.248T>C
c.968T>C (p.Ile323Thr)
c.845T>C (p.Ile282Thr)
19g.41984976A>TCA406052362ATP1A3c.974T>A (p.Ile325Asn)
c.935T>A (p.Ile312Asn)
n.248T>A
c.968T>A (p.Ile323Asn)
c.845T>A (p.Ile282Asn)
19g.41984977T>ACA406052363ATP1A3c.973A>T (p.Ile325Phe)
c.934A>T (p.Ile312Phe)
n.247A>T
c.967A>T (p.Ile323Phe)
c.844A>T (p.Ile282Phe)
19g.41984977T>CCA406052366ATP1A3c.973A>G (p.Ile325Val)
c.934A>G (p.Ile312Val)
n.247A>G
c.967A>G (p.Ile323Val)
c.844A>G (p.Ile282Val)
19g.41984977T>GCA406052369ATP1A3c.973A>C (p.Ile325Leu)
c.934A>C (p.Ile312Leu)
n.247A>C
c.967A>C (p.Ile323Leu)
c.844A>C (p.Ile282Leu)
19g.41984978G>ACA507695402ATP1A3c.972C>T (p.Val324=)
c.933C>T (p.Val311=)
n.246C>T
c.966C>T (p.Val322=)
c.843C>T (p.Val281=)
19g.41984978G>CCA507695403ATP1A3c.972C>G (p.Val324=)
c.933C>G (p.Val311=)
n.246C>G
c.966C>G (p.Val322=)
c.843C>G (p.Val281=)
19g.41984978G=CA2336727990ATP1A3c.972C= (p.Val324=)
c.933C= (p.Val311=)
n.246C=
c.966C= (p.Val322=)
c.843C= (p.Val281=)
19g.41984978G>TCA507695404ATP1A3c.972C>A (p.Val324=)
c.933C>A (p.Val311=)
n.246C>A
c.966C>A (p.Val322=)
c.843C>A (p.Val281=)
dbSNP gnomAD v2 gnomAD v4
19g.41984979A>CCA406052372ATP1A3c.971T>G (p.Val324Gly)
c.932T>G (p.Val311Gly)
n.245T>G
c.965T>G (p.Val322Gly)
c.842T>G (p.Val281Gly)
19g.41984979A>GCA406052375ATP1A3c.971T>C (p.Val324Ala)
c.932T>C (p.Val311Ala)
n.245T>C
c.965T>C (p.Val322Ala)
c.842T>C (p.Val281Ala)
19g.41984979A>TCA406052377ATP1A3c.971T>A (p.Val324Asp)
c.932T>A (p.Val311Asp)
n.245T>A
c.965T>A (p.Val322Asp)
c.842T>A (p.Val281Asp)
19g.41984980C>ACA406052384ATP1A3c.970G>T (p.Val324Phe)
c.931G>T (p.Val311Phe)
n.244G>T
c.964G>T (p.Val322Phe)
c.841G>T (p.Val281Phe)
19g.41984980C=CA2336727991ATP1A3c.970G= (p.Val324=)
c.931G= (p.Val311=)
n.244G=
c.964G= (p.Val322=)
c.841G= (p.Val281=)
19g.41984980C>GCA406052381ATP1A3c.970G>C (p.Val324Leu)
c.931G>C (p.Val311Leu)
n.244G>C
c.964G>C (p.Val322Leu)
c.841G>C (p.Val281Leu)
19g.41984980C>TCA9467761ATP1A3c.970G>A (p.Val324Ile)
c.931G>A (p.Val311Ile)
n.244G>A
c.964G>A (p.Val322Ile)
c.841G>A (p.Val281Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41984981A>CCA507695405ATP1A3c.969T>G (p.Ala323=)
c.930T>G (p.Ala310=)
n.243T>G
c.963T>G (p.Ala321=)
c.840T>G (p.Ala280=)
19g.41984981A>GCA507695406ATP1A3c.969T>C (p.Ala323=)
c.930T>C (p.Ala310=)
n.243T>C
c.963T>C (p.Ala321=)
c.840T>C (p.Ala280=)
19g.41984981A>TCA507695407ATP1A3c.969T>A (p.Ala323=)
c.930T>A (p.Ala310=)
n.243T>A
c.963T>A (p.Ala321=)
c.840T>A (p.Ala280=)
19g.41984982G>ACA406052388ATP1A3c.968C>T (p.Ala323Val)
c.929C>T (p.Ala310Val)
n.242C>T
c.962C>T (p.Ala321Val)
c.839C>T (p.Ala280Val)
19g.41984982G>CCA406052389ATP1A3c.968C>G (p.Ala323Gly)
c.929C>G (p.Ala310Gly)
n.242C>G
c.962C>G (p.Ala321Gly)
c.839C>G (p.Ala280Gly)
19g.41984982G>TCA406052393ATP1A3c.968C>A (p.Ala323Asp)
c.929C>A (p.Ala310Asp)
n.242C>A
c.962C>A (p.Ala321Asp)
c.839C>A (p.Ala280Asp)
19g.41984983C>ACA406052396ATP1A3c.967G>T (p.Ala323Ser)
c.928G>T (p.Ala310Ser)
n.241G>T
c.961G>T (p.Ala321Ser)
c.838G>T (p.Ala280Ser)
19g.41984983C>GCA406052399ATP1A3c.967G>C (p.Ala323Pro)
c.928G>C (p.Ala310Pro)
n.241G>C
c.961G>C (p.Ala321Pro)
c.838G>C (p.Ala280Pro)
19g.41984983C>TCA406052403ATP1A3c.967G>A (p.Ala323Thr)
c.928G>A (p.Ala310Thr)
n.241G>A
c.961G>A (p.Ala321Thr)
c.838G>A (p.Ala280Thr)
19g.41984984C>ACA406052408ATP1A3c.966G>T (p.Glu322Asp)
c.927G>T (p.Glu309Asp)
n.240G>T
c.960G>T (p.Glu320Asp)
c.837G>T (p.Glu279Asp)
19g.41984984C=CA2336727992ATP1A3c.966G= (p.Glu322=)
c.927G= (p.Glu309=)
n.240G=
c.960G= (p.Glu320=)
c.837G= (p.Glu279=)
19g.41984984C>GCA406052406ATP1A3c.966G>C (p.Glu322Asp)
c.927G>C (p.Glu309Asp)
n.240G>C
c.960G>C (p.Glu320Asp)
c.837G>C (p.Glu279Asp)
19g.41984984C>TCA507695408ATP1A3c.966G>A (p.Glu322=)
c.927G>A (p.Glu309=)
n.240G>A
c.960G>A (p.Glu320=)
c.837G>A (p.Glu279=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41984985T>ACA406052410ATP1A3c.965A>T (p.Glu322Val)
c.926A>T (p.Glu309Val)
n.239A>T
c.959A>T (p.Glu320Val)
c.836A>T (p.Glu279Val)
19g.41984985T>CCA406052411ATP1A3c.965A>G (p.Glu322Gly)
c.926A>G (p.Glu309Gly)
n.239A>G
c.959A>G (p.Glu320Gly)
c.836A>G (p.Glu279Gly)
19g.41984985T>GCA406052413ATP1A3c.965A>C (p.Glu322Ala)
c.926A>C (p.Glu309Ala)
n.239A>C
c.959A>C (p.Glu320Ala)
c.836A>C (p.Glu279Ala)
19g.41984986C>ACA406052416ATP1A3c.964G>T (p.Glu322Ter)
c.925G>T (p.Glu309Ter)
n.238G>T
c.958G>T (p.Glu320Ter)
c.835G>T (p.Glu279Ter)
19g.41984986C>GCA406052419ATP1A3c.964G>C (p.Glu322Gln)
c.925G>C (p.Glu309Gln)
n.238G>C
c.958G>C (p.Glu320Gln)
c.835G>C (p.Glu279Gln)
19g.41984986C>TCA406052420ATP1A3c.964G>A (p.Glu322Lys)
c.925G>A (p.Glu309Lys)
n.238G>A
c.958G>A (p.Glu320Lys)
c.835G>A (p.Glu279Lys)
dbSNP
19g.41984987A>CCA507695409ATP1A3c.963T>G (p.Leu321=)
c.924T>G (p.Leu308=)
n.237T>G
c.957T>G (p.Leu319=)
c.834T>G (p.Leu278=)
19g.41984987A>GCA507695410ATP1A3c.963T>C (p.Leu321=)
c.924T>C (p.Leu308=)
n.237T>C
c.957T>C (p.Leu319=)
c.834T>C (p.Leu278=)
19g.41984987A>TCA507695411ATP1A3c.963T>A (p.Leu321=)
c.924T>A (p.Leu308=)
n.237T>A
c.957T>A (p.Leu319=)
c.834T>A (p.Leu278=)
gnomAD v4
19g.41984988A>CCA406052427ATP1A3c.962T>G (p.Leu321Arg)
c.923T>G (p.Leu308Arg)
n.236T>G
c.956T>G (p.Leu319Arg)
c.833T>G (p.Leu278Arg)
19g.41984988A>GCA406052423ATP1A3c.962T>C (p.Leu321Pro)
c.923T>C (p.Leu308Pro)
n.236T>C
c.956T>C (p.Leu319Pro)
c.833T>C (p.Leu278Pro)
19g.41984988A>TCA406052425ATP1A3c.962T>A (p.Leu321His)
c.923T>A (p.Leu308His)
n.236T>A
c.956T>A (p.Leu319His)
c.833T>A (p.Leu278His)
19g.41984989G>ACA406052429ATP1A3c.961C>T (p.Leu321Phe)
c.922C>T (p.Leu308Phe)
n.235C>T
c.955C>T (p.Leu319Phe)
c.832C>T (p.Leu278Phe)
dbSNP gnomAD v2 gnomAD v4
19g.41984989G>CCA406052431ATP1A3c.961C>G (p.Leu321Val)
c.922C>G (p.Leu308Val)
n.235C>G
c.955C>G (p.Leu319Val)
c.832C>G (p.Leu278Val)
19g.41984989G=CA2336727993ATP1A3c.961C= (p.Leu321=)
c.922C= (p.Leu308=)
n.235C=
c.955C= (p.Leu319=)
c.832C= (p.Leu278=)
19g.41984989G>TCA406052434ATP1A3c.961C>A (p.Leu321Ile)
c.922C>A (p.Leu308Ile)
n.235C>A
c.955C>A (p.Leu319Ile)
c.832C>A (p.Leu278Ile)
19g.41984990C>ACA406052437ATP1A3c.960G>T (p.Trp320Cys)
c.921G>T (p.Trp307Cys)
n.234G>T
c.954G>T (p.Trp318Cys)
c.831G>T (p.Trp277Cys)
19g.41984990C>GCA406052440ATP1A3c.960G>C (p.Trp320Cys)
c.921G>C (p.Trp307Cys)
n.234G>C
c.954G>C (p.Trp318Cys)
c.831G>C (p.Trp277Cys)
19g.41984990C>TCA406052442ATP1A3c.960G>A (p.Trp320Ter)
c.921G>A (p.Trp307Ter)
n.234G>A
c.954G>A (p.Trp318Ter)
c.831G>A (p.Trp277Ter)
19g.41984991C>ACA406052444ATP1A3c.959G>T (p.Trp320Leu)
c.920G>T (p.Trp307Leu)
n.233G>T
c.953G>T (p.Trp318Leu)
c.830G>T (p.Trp277Leu)
19g.41984991C>GCA406052447ATP1A3c.959G>C (p.Trp320Ser)
c.920G>C (p.Trp307Ser)
n.233G>C
c.953G>C (p.Trp318Ser)
c.830G>C (p.Trp277Ser)
19g.41984991C>TCA406052450ATP1A3c.959G>A (p.Trp320Ter)
c.920G>A (p.Trp307Ter)
n.233G>A
c.953G>A (p.Trp318Ter)
c.830G>A (p.Trp277Ter)
19g.41984992A>CCA406052453ATP1A3c.958T>G (p.Trp320Gly)
c.919T>G (p.Trp307Gly)
n.232T>G
c.952T>G (p.Trp318Gly)
c.829T>G (p.Trp277Gly)
19g.41984992A>GCA406052456ATP1A3c.958T>C (p.Trp320Arg)
c.919T>C (p.Trp307Arg)
n.232T>C
c.952T>C (p.Trp318Arg)
c.829T>C (p.Trp277Arg)
19g.41984992A>TCA406052457ATP1A3c.958T>A (p.Trp320Arg)
c.919T>A (p.Trp307Arg)
n.232T>A
c.952T>A (p.Trp318Arg)
c.829T>A (p.Trp277Arg)
19g.41984993G>ACA507695413ATP1A3c.957C>T (p.Thr319=)
c.918C>T (p.Thr306=)
n.231C>T
c.951C>T (p.Thr317=)
c.828C>T (p.Thr276=)
gnomAD v4
19g.41984993G>CCA507695414ATP1A3c.957C>G (p.Thr319=)
c.918C>G (p.Thr306=)
n.231C>G
c.951C>G (p.Thr317=)
c.828C>G (p.Thr276=)
ClinVar dbSNP
19g.41984993G=CA2336727994ATP1A3c.957C= (p.Thr319=)
c.918C= (p.Thr306=)
n.231C=
c.951C= (p.Thr317=)
c.828C= (p.Thr276=)
19g.41984993G>TCA507695412ATP1A3c.957C>A (p.Thr319=)
c.918C>A (p.Thr306=)
n.231C>A
c.951C>A (p.Thr317=)
c.828C>A (p.Thr276=)
19g.41984994G>ACA406052460ATP1A3c.956C>T (p.Thr319Ile)
c.917C>T (p.Thr306Ile)
n.230C>T
c.950C>T (p.Thr317Ile)
c.827C>T (p.Thr276Ile)
19g.41984994G>CCA406052465ATP1A3c.956C>G (p.Thr319Ser)
c.917C>G (p.Thr306Ser)
n.230C>G
c.950C>G (p.Thr317Ser)
c.827C>G (p.Thr276Ser)
19g.41984994G>TCA406052463ATP1A3c.956C>A (p.Thr319Asn)
c.917C>A (p.Thr306Asn)
n.230C>A
c.950C>A (p.Thr317Asn)
c.827C>A (p.Thr276Asn)
19g.41984995T>ACA406052468ATP1A3c.955A>T (p.Thr319Ser)
c.916A>T (p.Thr306Ser)
n.229A>T
c.949A>T (p.Thr317Ser)
c.826A>T (p.Thr276Ser)
19g.41984995T>CCA406052469ATP1A3c.955A>G (p.Thr319Ala)
c.916A>G (p.Thr306Ala)
n.229A>G
c.949A>G (p.Thr317Ala)
c.826A>G (p.Thr276Ala)
19g.41984995T>GCA406052472ATP1A3c.955A>C (p.Thr319Pro)
c.916A>C (p.Thr306Pro)
n.229A>C
c.949A>C (p.Thr317Pro)
c.826A>C (p.Thr276Pro)
19g.41984996G>ACA9467762ATP1A3c.954C>T (p.Tyr318=)
c.915C>T (p.Tyr305=)
n.228C>T
c.948C>T (p.Tyr316=)
c.825C>T (p.Tyr275=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41984996G>CCA406052476ATP1A3c.954C>G (p.Tyr318Ter)
c.915C>G (p.Tyr305Ter)
n.228C>G
c.948C>G (p.Tyr316Ter)
c.825C>G (p.Tyr275Ter)
19g.41984996G=CA2336727995ATP1A3c.954C= (p.Tyr318=)
c.915C= (p.Tyr305=)
n.228C=
c.948C= (p.Tyr316=)
c.825C= (p.Tyr275=)
19g.41984996G>TCA406052478ATP1A3c.954C>A (p.Tyr318Ter)
c.915C>A (p.Tyr305Ter)
n.228C>A
c.948C>A (p.Tyr316Ter)
c.825C>A (p.Tyr275Ter)
19g.41984997T>ACA406052481ATP1A3c.953A>T (p.Tyr318Phe)
c.914A>T (p.Tyr305Phe)
n.227A>T
c.947A>T (p.Tyr316Phe)
c.824A>T (p.Tyr275Phe)
19g.41984997T>CCA406052484ATP1A3c.953A>G (p.Tyr318Cys)
c.914A>G (p.Tyr305Cys)
n.227A>G
c.947A>G (p.Tyr316Cys)
c.824A>G (p.Tyr275Cys)
19g.41984997T>GCA406052487ATP1A3c.953A>C (p.Tyr318Ser)
c.914A>C (p.Tyr305Ser)
n.227A>C
c.947A>C (p.Tyr316Ser)
c.824A>C (p.Tyr275Ser)
19g.41984998A>CCA406052488ATP1A3c.952T>G (p.Tyr318Asp)
c.913T>G (p.Tyr305Asp)
n.226T>G
c.946T>G (p.Tyr316Asp)
c.823T>G (p.Tyr275Asp)
19g.41984998A>GCA406052490ATP1A3c.952T>C (p.Tyr318His)
c.913T>C (p.Tyr305His)
n.226T>C
c.946T>C (p.Tyr316His)
c.823T>C (p.Tyr275His)
19g.41984998A>TCA406052493ATP1A3c.952T>A (p.Tyr318Asn)
c.913T>A (p.Tyr305Asn)
n.226T>A
c.946T>A (p.Tyr316Asn)
c.823T>A (p.Tyr275Asn)
19g.41984999T>ACA507695415ATP1A3c.951A>T (p.Gly317=)
c.912A>T (p.Gly304=)
n.225A>T
c.945A>T (p.Gly315=)
c.822A>T (p.Gly274=)
19g.41984999T>CCA507695417ATP1A3c.951A>G (p.Gly317=)
c.912A>G (p.Gly304=)
n.225A>G
c.945A>G (p.Gly315=)
c.822A>G (p.Gly274=)
19g.41984999T>GCA507695416ATP1A3c.951A>C (p.Gly317=)
c.912A>C (p.Gly304=)
n.225A>C
c.945A>C (p.Gly315=)
c.822A>C (p.Gly274=)
19g.41985000C>ACA406052499ATP1A3c.950G>T (p.Gly317Val)
c.911G>T (p.Gly304Val)
n.224G>T
c.944G>T (p.Gly315Val)
c.821G>T (p.Gly274Val)
COSMIC
19g.41985000C>GCA406052494ATP1A3c.950G>C (p.Gly317Ala)
c.911G>C (p.Gly304Ala)
n.224G>C
c.944G>C (p.Gly315Ala)
c.821G>C (p.Gly274Ala)
19g.41985000C>TCA406052496ATP1A3c.950G>A (p.Gly317Glu)
c.911G>A (p.Gly304Glu)
n.224G>A
c.944G>A (p.Gly315Glu)
c.821G>A (p.Gly274Glu)
19g.41985001C>ACA406052502ATP1A3c.949G>T (p.Gly317Ter)
c.910G>T (p.Gly304Ter)
n.223G>T
c.943G>T (p.Gly315Ter)
c.820G>T (p.Gly274Ter)
19g.41985001C=CA2336727996ATP1A3c.949G= (p.Gly317=)
c.910G= (p.Gly304=)
n.223G=
c.943G= (p.Gly315=)
c.820G= (p.Gly274=)
19g.41985001C>GCA406052505ATP1A3c.949G>C (p.Gly317Arg)
c.910G>C (p.Gly304Arg)
n.223G>C
c.943G>C (p.Gly315Arg)
c.820G>C (p.Gly274Arg)
19g.41985001C>TCA308597221ATP1A3c.949G>A (p.Gly317Arg)
c.910G>A (p.Gly304Arg)
n.223G>A
c.943G>A (p.Gly315Arg)
c.820G>A (p.Gly274Arg)
ClinVar dbSNP
19g.41985002G>ACA9467763ATP1A3c.948C>T (p.Leu316=)
c.909C>T (p.Leu303=)
n.222C>T
c.942C>T (p.Leu314=)
c.819C>T (p.Leu273=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985002G>CCA9467764ATP1A3c.948C>G (p.Leu316=)
c.909C>G (p.Leu303=)
n.222C>G
c.942C>G (p.Leu314=)
c.819C>G (p.Leu273=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985002G=CA2336727997ATP1A3c.948C= (p.Leu316=)
c.909C= (p.Leu303=)
n.222C=
c.942C= (p.Leu314=)
c.819C= (p.Leu273=)
19g.41985002G>TCA507695418ATP1A3c.948C>A (p.Leu316=)
c.909C>A (p.Leu303=)
n.222C>A
c.942C>A (p.Leu314=)
c.819C>A (p.Leu273=)
19g.41985003A>CCA406052509ATP1A3c.947T>G (p.Leu316Arg)
c.908T>G (p.Leu303Arg)
n.221T>G
c.941T>G (p.Leu314Arg)
c.818T>G (p.Leu273Arg)
19g.41985003A>GCA406052511ATP1A3c.947T>C (p.Leu316Pro)
c.908T>C (p.Leu303Pro)
n.221T>C
c.941T>C (p.Leu314Pro)
c.818T>C (p.Leu273Pro)
19g.41985003A>TCA406052513ATP1A3c.947T>A (p.Leu316His)
c.908T>A (p.Leu303His)
n.221T>A
c.941T>A (p.Leu314His)
c.818T>A (p.Leu273His)
19g.41985004G>ACA406052515ATP1A3c.946C>T (p.Leu316Phe)
c.907C>T (p.Leu303Phe)
n.220C>T
c.940C>T (p.Leu314Phe)
c.817C>T (p.Leu273Phe)
19g.41985004G>CCA406052518ATP1A3c.946C>G (p.Leu316Val)
c.907C>G (p.Leu303Val)
n.220C>G
c.940C>G (p.Leu314Val)
c.817C>G (p.Leu273Val)
19g.41985004G>TCA406052520ATP1A3c.946C>A (p.Leu316Ile)
c.907C>A (p.Leu303Ile)
n.220C>A
c.940C>A (p.Leu314Ile)
c.817C>A (p.Leu273Ile)
ClinVar
19g.41985005A>CCA406052522ATP1A3c.945T>G (p.Ile315Met)
c.906T>G (p.Ile302Met)
n.219T>G
c.939T>G (p.Ile313Met)
c.816T>G (p.Ile272Met)
19g.41985005A>GCA507695419ATP1A3c.945T>C (p.Ile315=)
c.906T>C (p.Ile302=)
n.219T>C
c.939T>C (p.Ile313=)
c.816T>C (p.Ile272=)
19g.41985005A>TCA507695420ATP1A3c.945T>A (p.Ile315=)
c.906T>A (p.Ile302=)
n.219T>A
c.939T>A (p.Ile313=)
c.816T>A (p.Ile272=)
19g.41985006A>CCA406052529ATP1A3c.944T>G (p.Ile315Ser)
c.905T>G (p.Ile302Ser)
n.218T>G
c.938T>G (p.Ile313Ser)
c.815T>G (p.Ile272Ser)
19g.41985006A>GCA406052530ATP1A3c.944T>C (p.Ile315Thr)
c.905T>C (p.Ile302Thr)
n.218T>C
c.938T>C (p.Ile313Thr)
c.815T>C (p.Ile272Thr)
19g.41985006A>TCA406052525ATP1A3c.944T>A (p.Ile315Asn)
c.905T>A (p.Ile302Asn)
n.218T>A
c.938T>A (p.Ile313Asn)
c.815T>A (p.Ile272Asn)
19g.41985007T>ACA406052534ATP1A3c.943A>T (p.Ile315Phe)
c.904A>T (p.Ile302Phe)
n.217A>T
c.937A>T (p.Ile313Phe)
c.814A>T (p.Ile272Phe)
19g.41985007T>CCA9467765ATP1A3c.943A>G (p.Ile315Val)
c.904A>G (p.Ile302Val)
n.217A>G
c.937A>G (p.Ile313Val)
c.814A>G (p.Ile272Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985007T>GCA406052537ATP1A3c.943A>C (p.Ile315Leu)
c.904A>C (p.Ile302Leu)
n.217A>C
c.937A>C (p.Ile313Leu)
c.814A>C (p.Ile272Leu)
19g.41985007T=CA2336727998ATP1A3c.943A= (p.Ile315=)
c.904A= (p.Ile302=)
n.217A=
c.937A= (p.Ile313=)
c.814A= (p.Ile272=)
19g.41985008G>ACA507695421ATP1A3c.942C>T (p.Leu314=)
c.903C>T (p.Leu301=)
n.216C>T
c.936C>T (p.Leu312=)
c.813C>T (p.Leu271=)
gnomAD v4
19g.41985008G>CCA507695422ATP1A3c.942C>G (p.Leu314=)
c.903C>G (p.Leu301=)
n.216C>G
c.936C>G (p.Leu312=)
c.813C>G (p.Leu271=)
19g.41985008G>TCA507695423ATP1A3c.942C>A (p.Leu314=)
c.903C>A (p.Leu301=)
n.216C>A
c.936C>A (p.Leu312=)
c.813C>A (p.Leu271=)
19g.41985009A>CCA406052541ATP1A3c.941T>G (p.Leu314Arg)
c.902T>G (p.Leu301Arg)
n.215T>G
c.935T>G (p.Leu312Arg)
c.812T>G (p.Leu271Arg)
ClinVar
19g.41985009A>GCA406052546ATP1A3c.941T>C (p.Leu314Pro)
c.902T>C (p.Leu301Pro)
n.215T>C
c.935T>C (p.Leu312Pro)
c.812T>C (p.Leu271Pro)
19g.41985009A>TCA406052544ATP1A3c.941T>A (p.Leu314His)
c.902T>A (p.Leu301His)
n.215T>A
c.935T>A (p.Leu312His)
c.812T>A (p.Leu271His)
19g.41985010G>ACA406052548ATP1A3c.940C>T (p.Leu314Phe)
c.901C>T (p.Leu301Phe)
n.214C>T
c.934C>T (p.Leu312Phe)
c.811C>T (p.Leu271Phe)
19g.41985010G>CCA406052550ATP1A3c.940C>G (p.Leu314Val)
c.901C>G (p.Leu301Val)
n.214C>G
c.934C>G (p.Leu312Val)
c.811C>G (p.Leu271Val)
19g.41985010G>TCA406052552ATP1A3c.940C>A (p.Leu314Ile)
c.901C>A (p.Leu301Ile)
n.214C>A
c.934C>A (p.Leu312Ile)
c.811C>A (p.Leu271Ile)
19g.41985011G>ACA507695424ATP1A3c.939C>T (p.Ser313=)
c.900C>T (p.Ser300=)
n.213C>T
c.933C>T (p.Ser311=)
c.810C>T (p.Ser270=)
COSMIC
19g.41985011G>CCA507695425ATP1A3c.939C>G (p.Ser313=)
c.900C>G (p.Ser300=)
n.213C>G
c.933C>G (p.Ser311=)
c.810C>G (p.Ser270=)
19g.41985011G>TCA507695426ATP1A3c.939C>A (p.Ser313=)
c.900C>A (p.Ser300=)
n.213C>A
c.933C>A (p.Ser311=)
c.810C>A (p.Ser270=)
19g.41985012G>ACA406052556ATP1A3c.938C>T (p.Ser313Phe)
c.899C>T (p.Ser300Phe)
n.212C>T
c.932C>T (p.Ser311Phe)
c.809C>T (p.Ser270Phe)
19g.41985012G>CCA406052558ATP1A3c.938C>G (p.Ser313Cys)
c.899C>G (p.Ser300Cys)
n.212C>G
c.932C>G (p.Ser311Cys)
c.809C>G (p.Ser270Cys)
19g.41985012G>TCA406052561ATP1A3c.938C>A (p.Ser313Tyr)
c.899C>A (p.Ser300Tyr)
n.212C>A
c.932C>A (p.Ser311Tyr)
c.809C>A (p.Ser270Tyr)

Number of alleles fetched