Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41985216_41985304delCA2814451415ATP1A3c.763+2_764-30del (n.763+2_764-30del)
c.724+2_725-30del (n.724+2_725-30del)
n.958_1046del
c.634+2_635-30del (n.634+2_635-30del)
n.37+2_38-30del
c.757+2_758-30del (n.757+2_758-30del)
19g.41985275delCA2576797237ATP1A3c.763+34del (n.763+34del)
c.724+34del (n.724+34del)
n.990del
c.634+34del (n.634+34del)
n.37+34del
c.757+34del (n.757+34del)
19g.41985275C=CA2336728114ATP1A3c.763+31G= (n.763+31G=)
c.724+31G= (n.724+31G=)
n.987G=
c.634+31G= (n.634+31G=)
n.37+31G=
c.757+31G= (n.757+31G=)
19g.41985275C>GCA2814451418ATP1A3c.763+31G>C (n.763+31G>C)
c.724+31G>C (n.724+31G>C)
n.987G>C
c.634+31G>C (n.634+31G>C)
n.37+31G>C
c.757+31G>C (n.757+31G>C)
19g.41985275C>TCA882392858ATP1A3c.763+31G>A (n.763+31G>A)
c.724+31G>A (n.724+31G>A)
n.987G>A
c.634+31G>A (n.634+31G>A)
n.37+31G>A
c.757+31G>A (n.757+31G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41985277G>ACA2585370671ATP1A3c.763+29C>T (n.763+29C>T)
c.724+29C>T (n.724+29C>T)
n.985C>T
c.634+29C>T (n.634+29C>T)
n.37+29C>T
c.757+29C>T (n.757+29C>T)
 gnomAD v4
19g.41985284_41985285delCA2576797238ATP1A3c.763+26_763+27del (n.763+26_763+27del)
c.724+26_724+27del (n.724+26_724+27del)
n.982_983del
c.634+26_634+27del (n.634+26_634+27del)
n.37+26_37+27del
c.757+26_757+27del (n.757+26_757+27del)
19g.41985280G>ACA2585370672ATP1A3c.763+26C>T (n.763+26C>T)
c.724+26C>T (n.724+26C>T)
n.982C>T
c.634+26C>T (n.634+26C>T)
n.37+26C>T
c.757+26C>T (n.757+26C>T)
 gnomAD v4
19g.41985280G>TCA2585370673ATP1A3c.763+26C>A (n.763+26C>A)
c.724+26C>A (n.724+26C>A)
n.982C>A
c.634+26C>A (n.634+26C>A)
n.37+26C>A
c.757+26C>A (n.757+26C>A)
 gnomAD v4
19g.41985282G>ACA2336728116ATP1A3c.763+24C>T (n.763+24C>T)
c.724+24C>T (n.724+24C>T)
n.980C>T
c.634+24C>T (n.634+24C>T)
n.37+24C>T
c.757+24C>T (n.757+24C>T)
 dbSNP gnomAD v4
19g.41985282G=CA2336728115ATP1A3c.763+24C= (n.763+24C=)
c.724+24C= (n.724+24C=)
n.980C=
c.634+24C= (n.634+24C=)
n.37+24C=
c.757+24C= (n.757+24C=)
19g.41985283T>ACA9467799ATP1A3c.763+23A>T (n.763+23A>T)
c.724+23A>T (n.724+23A>T)
n.979A>T
c.634+23A>T (n.634+23A>T)
n.37+23A>T
c.757+23A>T (n.757+23A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985283T=CA2336728117ATP1A3c.763+23A= (n.763+23A=)
c.724+23A= (n.724+23A=)
n.979A=
c.634+23A= (n.634+23A=)
n.37+23A=
c.757+23A= (n.757+23A=)
19g.41985286_41985292delCA2585370674ATP1A3c.763+15_763+21del (n.763+15_763+21del)
c.724+15_724+21del (n.724+15_724+21del)
n.971_977del
c.634+15_634+21del (n.634+15_634+21del)
n.37+15_37+21del
c.757+15_757+21del (n.757+15_757+21del)
 gnomAD v4
19g.41985289C>TCA2585370675ATP1A3c.763+17G>A (n.763+17G>A)
c.724+17G>A (n.724+17G>A)
n.973G>A
c.634+17G>A (n.634+17G>A)
n.37+17G>A
c.757+17G>A (n.757+17G>A)
 gnomAD v4
19g.41985290T>CCA2576797239ATP1A3c.763+16A>G (n.763+16A>G)
c.724+16A>G (n.724+16A>G)
n.972A>G
c.634+16A>G (n.634+16A>G)
n.37+16A>G
c.757+16A>G (n.757+16A>G)
19g.41985291C>ACA2585370676ATP1A3c.763+15G>T (n.763+15G>T)
c.724+15G>T (n.724+15G>T)
n.971G>T
c.634+15G>T (n.634+15G>T)
n.37+15G>T
c.757+15G>T (n.757+15G>T)
 gnomAD v4
19g.41985291C=CA2336728118ATP1A3c.763+15G= (n.763+15G=)
c.724+15G= (n.724+15G=)
n.971G=
c.634+15G= (n.634+15G=)
n.37+15G=
c.757+15G= (n.757+15G=)
19g.41985291C>TCA9467800ATP1A3c.763+15G>A (n.763+15G>A)
c.724+15G>A (n.724+15G>A)
n.971G>A
c.634+15G>A (n.634+15G>A)
n.37+15G>A
c.757+15G>A (n.757+15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985292T>GCA2585370677ATP1A3c.763+14A>C (n.763+14A>C)
c.724+14A>C (n.724+14A>C)
n.970A>C
c.634+14A>C (n.634+14A>C)
n.37+14A>C
c.757+14A>C (n.757+14A>C)
 gnomAD v4
19g.41985292_41985298delinsTGCACCCCA2336728119ATP1A3c.763+8_763+14delinsGGGTGCA (n.763+8_763+14delinsGGGTGCA)
c.724+8_724+14delinsGGGTGCA (n.724+8_724+14delinsGGGTGCA)
n.964_970delinsGGGTGCA
c.634+8_634+14delinsGGGTGCA (n.634+8_634+14delinsGGGTGCA)
n.37+8_37+14delinsGGGTGCA
c.757+8_757+14delinsGGGTGCA (n.757+8_757+14delinsGGGTGCA)
19g.41985295_41985300delCA9467801ATP1A3c.763+8_763+13del (n.763+8_763+13del)
c.724+8_724+13del (n.724+8_724+13del)
n.964_969del
c.634+8_634+13del (n.634+8_634+13del)
n.37+8_37+13del
c.757+8_757+13del (n.757+8_757+13del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985294C>ACA2585370678ATP1A3c.763+12G>T (n.763+12G>T)
c.724+12G>T (n.724+12G>T)
n.968G>T
c.634+12G>T (n.634+12G>T)
n.37+12G>T
c.757+12G>T (n.757+12G>T)
 gnomAD v4
19g.41985294C=CA2336728120ATP1A3c.763+12G= (n.763+12G=)
c.724+12G= (n.724+12G=)
n.968G=
c.634+12G= (n.634+12G=)
n.37+12G=
c.757+12G= (n.757+12G=)
19g.41985294C>TCA9467802ATP1A3c.763+12G>A (n.763+12G>A)
c.724+12G>A (n.724+12G>A)
n.968G>A
c.634+12G>A (n.634+12G>A)
n.37+12G>A
c.757+12G>A (n.757+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985295A=CA2336728121ATP1A3c.763+11T= (n.763+11T=)
c.724+11T= (n.724+11T=)
n.967T=
c.634+11T= (n.634+11T=)
n.37+11T=
c.757+11T= (n.757+11T=)
19g.41985295A>CCA9467803ATP1A3c.763+11T>G (n.763+11T>G)
c.724+11T>G (n.724+11T>G)
n.967T>G
c.634+11T>G (n.634+11T>G)
n.37+11T>G
c.757+11T>G (n.757+11T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985296C>ACA2585370679ATP1A3c.763+10G>T (n.763+10G>T)
c.724+10G>T (n.724+10G>T)
n.966G>T
c.634+10G>T (n.634+10G>T)
n.37+10G>T
c.757+10G>T (n.757+10G>T)
 gnomAD v4
19g.41985296C=CA2336728122ATP1A3c.763+10G= (n.763+10G=)
c.724+10G= (n.724+10G=)
n.966G=
c.634+10G= (n.634+10G=)
n.37+10G=
c.757+10G= (n.757+10G=)
19g.41985296C>TCA9467804ATP1A3c.763+10G>A (n.763+10G>A)
c.724+10G>A (n.724+10G>A)
n.966G>A
c.634+10G>A (n.634+10G>A)
n.37+10G>A
c.757+10G>A (n.757+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985297C>ACA2336728124ATP1A3c.763+9G>T (n.763+9G>T)
c.724+9G>T (n.724+9G>T)
n.965G>T
c.634+9G>T (n.634+9G>T)
n.37+9G>T
c.757+9G>T (n.757+9G>T)
 dbSNP gnomAD v4
19g.41985297C=CA2336728123ATP1A3c.763+9G= (n.763+9G=)
c.724+9G= (n.724+9G=)
n.965G=
c.634+9G= (n.634+9G=)
n.37+9G=
c.757+9G= (n.757+9G=)
19g.41985297C>TCA633471551ATP1A3c.763+9G>A (n.763+9G>A)
c.724+9G>A (n.724+9G>A)
n.965G>A
c.634+9G>A (n.634+9G>A)
n.37+9G>A
c.757+9G>A (n.757+9G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985298C=CA2336728125ATP1A3c.763+8G= (n.763+8G=)
c.724+8G= (n.724+8G=)
n.964G=
c.634+8G= (n.634+8G=)
n.37+8G=
c.757+8G= (n.757+8G=)
19g.41985298C>TCA9467805ATP1A3c.763+8G>A (n.763+8G>A)
c.724+8G>A (n.724+8G>A)
n.964G>A
c.634+8G>A (n.634+8G>A)
n.37+8G>A
c.757+8G>A (n.757+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985299G>ACA633471552ATP1A3c.763+7C>T (n.763+7C>T)
c.724+7C>T (n.724+7C>T)
n.963C>T
c.634+7C>T (n.634+7C>T)
n.37+7C>T
c.757+7C>T (n.757+7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41985299G=CA2336728126ATP1A3c.763+7C= (n.763+7C=)
c.724+7C= (n.724+7C=)
n.963C=
c.634+7C= (n.634+7C=)
n.37+7C=
c.757+7C= (n.757+7C=)
19g.41985300C=CA2336728127ATP1A3c.763+6G= (n.763+6G=)
c.724+6G= (n.724+6G=)
n.962G=
c.634+6G= (n.634+6G=)
n.37+6G=
c.757+6G= (n.757+6G=)
19g.41985300C>GCA633471553ATP1A3c.763+6G>C (n.763+6G>C)
c.724+6G>C (n.724+6G>C)
n.962G>C
c.634+6G>C (n.634+6G>C)
n.37+6G>C
c.757+6G>C (n.757+6G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985304A>CCA406053296ATP1A3c.763+2T>G (n.763+2T>G)
c.724+2T>G (n.724+2T>G)
n.958T>G
c.634+2T>G (n.634+2T>G)
n.37+2T>G
c.757+2T>G (n.757+2T>G)
19g.41985304A>GCA406053297ATP1A3c.763+2T>C (n.763+2T>C)
c.724+2T>C (n.724+2T>C)
n.958T>C
c.634+2T>C (n.634+2T>C)
n.37+2T>C
c.757+2T>C (n.757+2T>C)
19g.41985304A>TCA406053298ATP1A3c.763+2T>A (n.763+2T>A)
c.724+2T>A (n.724+2T>A)
n.958T>A
c.634+2T>A (n.634+2T>A)
n.37+2T>A
c.757+2T>A (n.757+2T>A)
19g.41985305C>ACA406053299ATP1A3c.763+1G>T (n.763+1G>T)
c.724+1G>T (n.724+1G>T)
n.957G>T
c.634+1G>T (n.634+1G>T)
n.37+1G>T
c.757+1G>T (n.757+1G>T)
 ClinVar dbSNP
19g.41985305C=CA2336728128ATP1A3c.763+1G= (n.763+1G=)
c.724+1G= (n.724+1G=)
n.957G=
c.634+1G= (n.634+1G=)
n.37+1G=
c.757+1G= (n.757+1G=)
19g.41985305C>GCA406053301ATP1A3c.763+1G>C (n.763+1G>C)
c.724+1G>C (n.724+1G>C)
n.957G>C
c.634+1G>C (n.634+1G>C)
n.37+1G>C
c.757+1G>C (n.757+1G>C)
19g.41985305C>TCA406053300ATP1A3c.763+1G>A (n.763+1G>A)
c.724+1G>A (n.724+1G>A)
n.957G>A
c.634+1G>A (n.634+1G>A)
n.37+1G>A
c.757+1G>A (n.757+1G>A)
19g.41985306C>ACA406053302ATP1A3c.763G>T (p.Gly255Cys)
c.724G>T (p.Gly242Cys)
n.956G>T
c.634G>T (p.Gly212Cys)
n.37G>T
c.757G>T (p.Gly253Cys)
19g.41985306C>GCA406053303ATP1A3c.763G>C (p.Gly255Arg)
c.724G>C (p.Gly242Arg)
n.956G>C
c.634G>C (p.Gly212Arg)
n.37G>C
c.757G>C (p.Gly253Arg)
19g.41985306C>TCA406053304ATP1A3c.763G>A (p.Gly255Ser)
c.724G>A (p.Gly242Ser)
n.956G>A
c.634G>A (p.Gly212Ser)
n.37G>A
c.757G>A (p.Gly253Ser)
19g.41985307T>ACA406053305ATP1A3c.762A>T (p.Glu254Asp)
c.723A>T (p.Glu241Asp)
n.955A>T
c.633A>T (p.Glu211Asp)
n.36A>T
c.756A>T (p.Glu252Asp)
19g.41985307T>CCA507695327ATP1A3c.762A>G (p.Glu254=)
c.723A>G (p.Glu241=)
n.955A>G
c.633A>G (p.Glu211=)
n.36A>G
c.756A>G (p.Glu252=)
19g.41985307T>GCA406053306ATP1A3c.762A>C (p.Glu254Asp)
c.723A>C (p.Glu241Asp)
n.955A>C
c.633A>C (p.Glu211Asp)
n.36A>C
c.756A>C (p.Glu252Asp)
19g.41985308T>ACA406053307ATP1A3c.761A>T (p.Glu254Val)
c.722A>T (p.Glu241Val)
n.954A>T
c.632A>T (p.Glu211Val)
n.35A>T
c.755A>T (p.Glu252Val)
19g.41985308T>CCA406053308ATP1A3c.761A>G (p.Glu254Gly)
c.722A>G (p.Glu241Gly)
n.954A>G
c.632A>G (p.Glu211Gly)
n.35A>G
c.755A>G (p.Glu252Gly)
19g.41985308T>GCA406053309ATP1A3c.761A>C (p.Glu254Ala)
c.722A>C (p.Glu241Ala)
n.954A>C
c.632A>C (p.Glu211Ala)
n.35A>C
c.755A>C (p.Glu252Ala)
19g.41985309C>ACA406053310ATP1A3c.760G>T (p.Glu254Ter)
c.721G>T (p.Glu241Ter)
n.953G>T
c.631G>T (p.Glu211Ter)
n.34G>T
c.754G>T (p.Glu252Ter)
19g.41985309C>GCA406053311ATP1A3c.760G>C (p.Glu254Gln)
c.721G>C (p.Glu241Gln)
n.953G>C
c.631G>C (p.Glu211Gln)
n.34G>C
c.754G>C (p.Glu252Gln)
19g.41985309C>TCA406053312ATP1A3c.760G>A (p.Glu254Lys)
c.721G>A (p.Glu241Lys)
n.953G>A
c.631G>A (p.Glu211Lys)
n.34G>A
c.754G>A (p.Glu252Lys)
19g.41985310C>ACA507695331ATP1A3c.759G>T (p.Val253=)
c.720G>T (p.Val240=)
n.952G>T
c.630G>T (p.Val210=)
n.33G>T
c.753G>T (p.Val251=)
19g.41985310C>GCA507695332ATP1A3c.759G>C (p.Val253=)
c.720G>C (p.Val240=)
n.952G>C
c.630G>C (p.Val210=)
n.33G>C
c.753G>C (p.Val251=)
19g.41985310C>TCA507695334ATP1A3c.759G>A (p.Val253=)
c.720G>A (p.Val240=)
n.952G>A
c.630G>A (p.Val210=)
n.33G>A
c.753G>A (p.Val251=)
19g.41985311A=CA2336728129ATP1A3c.758T= (p.Val253=)
c.719T= (p.Val240=)
n.951T=
c.629T= (p.Val210=)
n.32T=
c.752T= (p.Val251=)
19g.41985311A>CCA406053313ATP1A3c.758T>G (p.Val253Gly)
c.719T>G (p.Val240Gly)
n.951T>G
c.629T>G (p.Val210Gly)
n.32T>G
c.752T>G (p.Val251Gly)
19g.41985311A>GCA406053315ATP1A3c.758T>C (p.Val253Ala)
c.719T>C (p.Val240Ala)
n.951T>C
c.629T>C (p.Val210Ala)
n.32T>C
c.752T>C (p.Val251Ala)
 ClinVar dbSNP
19g.41985311A>TCA406053314ATP1A3c.758T>A (p.Val253Glu)
c.719T>A (p.Val240Glu)
n.951T>A
c.629T>A (p.Val210Glu)
n.32T>A
c.752T>A (p.Val251Glu)
19g.41985312C>ACA406053316ATP1A3c.757G>T (p.Val253Leu)
c.718G>T (p.Val240Leu)
n.950G>T
c.628G>T (p.Val210Leu)
n.31G>T
c.751G>T (p.Val251Leu)
19g.41985312C>GCA406053317ATP1A3c.757G>C (p.Val253Leu)
c.718G>C (p.Val240Leu)
n.950G>C
c.628G>C (p.Val210Leu)
n.31G>C
c.751G>C (p.Val251Leu)
19g.41985312C>TCA406053318ATP1A3c.757G>A (p.Val253Met)
c.718G>A (p.Val240Met)
n.950G>A
c.628G>A (p.Val210Met)
n.31G>A
c.751G>A (p.Val251Met)
19g.41985313A>CCA406053319ATP1A3c.756T>G (p.Cys252Trp)
c.717T>G (p.Cys239Trp)
n.949T>G
c.627T>G (p.Cys209Trp)
n.30T>G
c.750T>G (p.Cys250Trp)
19g.41985313A>GCA507695337ATP1A3c.756T>C (p.Cys252=)
c.717T>C (p.Cys239=)
n.949T>C
c.627T>C (p.Cys209=)
n.30T>C
c.750T>C (p.Cys250=)
 gnomAD v4
19g.41985313A>TCA406053320ATP1A3c.756T>A (p.Cys252Ter)
c.717T>A (p.Cys239Ter)
n.949T>A
c.627T>A (p.Cys209Ter)
n.30T>A
c.750T>A (p.Cys250Ter)
19g.41985314C>ACA406053321ATP1A3c.755G>T (p.Cys252Phe)
c.716G>T (p.Cys239Phe)
n.948G>T
c.626G>T (p.Cys209Phe)
n.29G>T
c.749G>T (p.Cys250Phe)
19g.41985314C>GCA406053322ATP1A3c.755G>C (p.Cys252Ser)
c.716G>C (p.Cys239Ser)
n.948G>C
c.626G>C (p.Cys209Ser)
n.29G>C
c.749G>C (p.Cys250Ser)
19g.41985314C>TCA406053323ATP1A3c.755G>A (p.Cys252Tyr)
c.716G>A (p.Cys239Tyr)
n.948G>A
c.626G>A (p.Cys209Tyr)
n.29G>A
c.749G>A (p.Cys250Tyr)
19g.41985315A>CCA406053324ATP1A3c.754T>G (p.Cys252Gly)
c.715T>G (p.Cys239Gly)
n.947T>G
c.625T>G (p.Cys209Gly)
n.28T>G
c.748T>G (p.Cys250Gly)
19g.41985315A>GCA406053325ATP1A3c.754T>C (p.Cys252Arg)
c.715T>C (p.Cys239Arg)
n.947T>C
c.625T>C (p.Cys209Arg)
n.28T>C
c.748T>C (p.Cys250Arg)
19g.41985315A>TCA406053326ATP1A3c.754T>A (p.Cys252Ser)
c.715T>A (p.Cys239Ser)
n.947T>A
c.625T>A (p.Cys209Ser)
n.28T>A
c.748T>A (p.Cys250Ser)
19g.41985316G>ACA507695342ATP1A3c.753C>T (p.Asn251=)
c.714C>T (p.Asn238=)
n.946C>T
c.624C>T (p.Asn208=)
n.27C>T
c.747C>T (p.Asn249=)
 ClinVar
19g.41985316G>CCA406053327ATP1A3c.753C>G (p.Asn251Lys)
c.714C>G (p.Asn238Lys)
n.946C>G
c.624C>G (p.Asn208Lys)
n.27C>G
c.747C>G (p.Asn249Lys)
19g.41985316G>TCA406053328ATP1A3c.753C>A (p.Asn251Lys)
c.714C>A (p.Asn238Lys)
n.946C>A
c.624C>A (p.Asn208Lys)
n.27C>A
c.747C>A (p.Asn249Lys)
19g.41985317T>ACA406053330ATP1A3c.752A>T (p.Asn251Ile)
c.713A>T (p.Asn238Ile)
n.945A>T
c.623A>T (p.Asn208Ile)
n.26A>T
c.746A>T (p.Asn249Ile)
19g.41985317T>CCA9467806ATP1A3c.752A>G (p.Asn251Ser)
c.713A>G (p.Asn238Ser)
n.945A>G
c.623A>G (p.Asn208Ser)
n.26A>G
c.746A>G (p.Asn249Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41985317T>GCA406053329ATP1A3c.752A>C (p.Asn251Thr)
c.713A>C (p.Asn238Thr)
n.945A>C
c.623A>C (p.Asn208Thr)
n.26A>C
c.746A>C (p.Asn249Thr)
19g.41985317T=CA2336728130ATP1A3c.752A= (p.Asn251=)
c.713A= (p.Asn238=)
n.945A=
c.623A= (p.Asn208=)
n.26A=
c.746A= (p.Asn249=)
19g.41985318delCA2739289544ATP1A3c.752del (p.Asn251ThrfsTer?)
c.713del (p.Asn238ThrfsTer?)
n.945del
c.623del (p.Asn208ThrfsTer?)
n.26del
c.746del (p.Asn249ThrfsTer?)
19g.41985318T>ACA406053331ATP1A3c.751A>T (p.Asn251Tyr)
c.712A>T (p.Asn238Tyr)
n.944A>T
c.622A>T (p.Asn208Tyr)
n.25A>T
c.745A>T (p.Asn249Tyr)
19g.41985318T>CCA406053332ATP1A3c.751A>G (p.Asn251Asp)
c.712A>G (p.Asn238Asp)
n.944A>G
c.622A>G (p.Asn208Asp)
n.25A>G
c.745A>G (p.Asn249Asp)
19g.41985318T>GCA406053333ATP1A3c.751A>C (p.Asn251His)
c.712A>C (p.Asn238His)
n.944A>C
c.622A>C (p.Asn208His)
n.25A>C
c.745A>C (p.Asn249His)
19g.41985319G>ACA507695349ATP1A3c.750C>T (p.Thr250=)
c.711C>T (p.Thr237=)
n.943C>T
c.621C>T (p.Thr207=)
n.24C>T
c.744C>T (p.Thr248=)
19g.41985319G>CCA507695350ATP1A3c.750C>G (p.Thr250=)
c.711C>G (p.Thr237=)
n.943C>G
c.621C>G (p.Thr207=)
n.24C>G
c.744C>G (p.Thr248=)
19g.41985319G>TCA507695351ATP1A3c.750C>A (p.Thr250=)
c.711C>A (p.Thr237=)
n.943C>A
c.621C>A (p.Thr207=)
n.24C>A
c.744C>A (p.Thr248=)
19g.41985320G>ACA406053334ATP1A3c.749C>T (p.Thr250Ile)
c.710C>T (p.Thr237Ile)
n.942C>T
c.620C>T (p.Thr207Ile)
n.23C>T
c.743C>T (p.Thr248Ile)
19g.41985320G>CCA406053335ATP1A3c.749C>G (p.Thr250Ser)
c.710C>G (p.Thr237Ser)
n.942C>G
c.620C>G (p.Thr207Ser)
n.23C>G
c.743C>G (p.Thr248Ser)
19g.41985320G>TCA406053336ATP1A3c.749C>A (p.Thr250Asn)
c.710C>A (p.Thr237Asn)
n.942C>A
c.620C>A (p.Thr207Asn)
n.23C>A
c.743C>A (p.Thr248Asn)
19g.41985321T>ACA406053337ATP1A3c.748A>T (p.Thr250Ser)
c.709A>T (p.Thr237Ser)
n.941A>T
c.619A>T (p.Thr207Ser)
n.22A>T
c.742A>T (p.Thr248Ser)
19g.41985321T>CCA406053338ATP1A3c.748A>G (p.Thr250Ala)
c.709A>G (p.Thr237Ala)
n.941A>G
c.619A>G (p.Thr207Ala)
n.22A>G
c.742A>G (p.Thr248Ala)
 ClinVar
19g.41985321T>GCA406053339ATP1A3c.748A>C (p.Thr250Pro)
c.709A>C (p.Thr237Pro)
n.941A>C
c.619A>C (p.Thr207Pro)
n.22A>C
c.742A>C (p.Thr248Pro)
19g.41985322G>ACA9467807ATP1A3c.747C>T (p.Ser249=)
c.708C>T (p.Ser236=)
n.940C>T
c.618C>T (p.Ser206=)
n.21C>T
c.741C>T (p.Ser247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985322G>CCA507695353ATP1A3c.747C>G (p.Ser249=)
c.708C>G (p.Ser236=)
n.940C>G
c.618C>G (p.Ser206=)
n.21C>G
c.741C>G (p.Ser247=)
19g.41985322G=CA2336728131ATP1A3c.747C= (p.Ser249=)
c.708C= (p.Ser236=)
n.940C=
c.618C= (p.Ser206=)
n.21C=
c.741C= (p.Ser247=)
19g.41985322G>TCA507695354ATP1A3c.747C>A (p.Ser249=)
c.708C>A (p.Ser236=)
n.940C>A
c.618C>A (p.Ser206=)
n.21C>A
c.741C>A (p.Ser247=)
19g.41985323G>ACA406053340ATP1A3c.746C>T (p.Ser249Phe)
c.707C>T (p.Ser236Phe)
n.939C>T
c.617C>T (p.Ser206Phe)
n.20C>T
c.740C>T (p.Ser247Phe)
19g.41985323G>CCA406053341ATP1A3c.746C>G (p.Ser249Cys)
c.707C>G (p.Ser236Cys)
n.939C>G
c.617C>G (p.Ser206Cys)
n.20C>G
c.740C>G (p.Ser247Cys)
19g.41985323G>TCA406053342ATP1A3c.746C>A (p.Ser249Tyr)
c.707C>A (p.Ser236Tyr)
n.939C>A
c.617C>A (p.Ser206Tyr)
n.20C>A
c.740C>A (p.Ser247Tyr)
19g.41985324A>CCA406053344ATP1A3c.745T>G (p.Ser249Ala)
c.706T>G (p.Ser236Ala)
n.938T>G
c.616T>G (p.Ser206Ala)
n.19T>G
c.739T>G (p.Ser247Ala)
19g.41985324A>GCA406053345ATP1A3c.745T>C (p.Ser249Pro)
c.706T>C (p.Ser236Pro)
n.938T>C
c.616T>C (p.Ser206Pro)
n.19T>C
c.739T>C (p.Ser247Pro)
19g.41985324A>TCA406053343ATP1A3c.745T>A (p.Ser249Thr)
c.706T>A (p.Ser236Thr)
n.938T>A
c.616T>A (p.Ser206Thr)
n.19T>A
c.739T>A (p.Ser247Thr)
19g.41985325A=CA2336728132ATP1A3c.744T= (p.Phe248=)
c.705T= (p.Phe235=)
n.937T=
c.615T= (p.Phe205=)
n.18T=
c.738T= (p.Phe246=)
19g.41985325A>CCA406053346ATP1A3c.744T>G (p.Phe248Leu)
c.705T>G (p.Phe235Leu)
n.937T>G
c.615T>G (p.Phe205Leu)
n.18T>G
c.738T>G (p.Phe246Leu)
 ClinVar dbSNP
19g.41985325A>GCA9467808ATP1A3c.744T>C (p.Phe248=)
c.705T>C (p.Phe235=)
n.937T>C
c.615T>C (p.Phe205=)
n.18T>C
c.738T>C (p.Phe246=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985325A>TCA406053347ATP1A3c.744T>A (p.Phe248Leu)
c.705T>A (p.Phe235Leu)
n.937T>A
c.615T>A (p.Phe205Leu)
n.18T>A
c.738T>A (p.Phe246Leu)
19g.41985326A>CCA406053348ATP1A3c.743T>G (p.Phe248Cys)
c.704T>G (p.Phe235Cys)
n.936T>G
c.614T>G (p.Phe205Cys)
n.17T>G
c.737T>G (p.Phe246Cys)
19g.41985326A>GCA406053349ATP1A3c.743T>C (p.Phe248Ser)
c.704T>C (p.Phe235Ser)
n.936T>C
c.614T>C (p.Phe205Ser)
n.17T>C
c.737T>C (p.Phe246Ser)
19g.41985326A>TCA406053350ATP1A3c.743T>A (p.Phe248Tyr)
c.704T>A (p.Phe235Tyr)
n.936T>A
c.614T>A (p.Phe205Tyr)
n.17T>A
c.737T>A (p.Phe246Tyr)
19g.41985327A>CCA406053351ATP1A3c.742T>G (p.Phe248Val)
c.703T>G (p.Phe235Val)
n.935T>G
c.613T>G (p.Phe205Val)
n.16T>G
c.736T>G (p.Phe246Val)
19g.41985327A>GCA406053352ATP1A3c.742T>C (p.Phe248Leu)
c.703T>C (p.Phe235Leu)
n.935T>C
c.613T>C (p.Phe205Leu)
n.16T>C
c.736T>C (p.Phe246Leu)
19g.41985327A>TCA406053353ATP1A3c.742T>A (p.Phe248Ile)
c.703T>A (p.Phe235Ile)
n.935T>A
c.613T>A (p.Phe205Ile)
n.16T>A
c.736T>A (p.Phe246Ile)
19g.41985328G>ACA507695355ATP1A3c.741C>T (p.Phe247=)
c.702C>T (p.Phe234=)
n.934C>T
c.612C>T (p.Phe204=)
n.15C>T
c.735C>T (p.Phe245=)
19g.41985328G>CCA406053354ATP1A3c.741C>G (p.Phe247Leu)
c.702C>G (p.Phe234Leu)
n.934C>G
c.612C>G (p.Phe204Leu)
n.15C>G
c.735C>G (p.Phe245Leu)
19g.41985328G>TCA406053355ATP1A3c.741C>A (p.Phe247Leu)
c.702C>A (p.Phe234Leu)
n.934C>A
c.612C>A (p.Phe204Leu)
n.15C>A
c.735C>A (p.Phe245Leu)
19g.41985329A>CCA406053954ATP1A3c.740T>G (p.Phe247Cys)
c.701T>G (p.Phe234Cys)
n.933T>G
c.611T>G (p.Phe204Cys)
n.14T>G
c.734T>G (p.Phe245Cys)
19g.41985329A>GCA406053952ATP1A3c.740T>C (p.Phe247Ser)
c.701T>C (p.Phe234Ser)
n.933T>C
c.611T>C (p.Phe204Ser)
n.14T>C
c.734T>C (p.Phe245Ser)
19g.41985329A>TCA406053950ATP1A3c.740T>A (p.Phe247Tyr)
c.701T>A (p.Phe234Tyr)
n.933T>A
c.611T>A (p.Phe204Tyr)
n.14T>A
c.734T>A (p.Phe245Tyr)
19g.41985330A>CCA406053956ATP1A3c.739T>G (p.Phe247Val)
c.700T>G (p.Phe234Val)
n.932T>G
c.610T>G (p.Phe204Val)
n.13T>G
c.733T>G (p.Phe245Val)
19g.41985330A>GCA406053958ATP1A3c.739T>C (p.Phe247Leu)
c.700T>C (p.Phe234Leu)
n.932T>C
c.610T>C (p.Phe204Leu)
n.13T>C
c.733T>C (p.Phe245Leu)
19g.41985330A>TCA406053959ATP1A3c.739T>A (p.Phe247Ile)
c.700T>A (p.Phe234Ile)
n.932T>A
c.610T>A (p.Phe204Ile)
n.13T>A
c.733T>A (p.Phe245Ile)
19g.41985331G>ACA507591456ATP1A3c.738C>T (p.Thr246=)
c.699C>T (p.Thr233=)
n.931C>T
c.609C>T (p.Thr203=)
n.12C>T
c.732C>T (p.Thr244=)
 gnomAD v4
19g.41985331G>CCA507591458ATP1A3c.738C>G (p.Thr246=)
c.699C>G (p.Thr233=)
n.931C>G
c.609C>G (p.Thr203=)
n.12C>G
c.732C>G (p.Thr244=)
 gnomAD v4
19g.41985331G=CA2336728133ATP1A3c.738C= (p.Thr246=)
c.699C= (p.Thr233=)
n.931C=
c.609C= (p.Thr203=)
n.12C=
c.732C= (p.Thr244=)
19g.41985331G>TCA9467809ATP1A3c.738C>A (p.Thr246=)
c.699C>A (p.Thr233=)
n.931C>A
c.609C>A (p.Thr203=)
n.12C>A
c.732C>A (p.Thr244=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985332G>ACA406053963ATP1A3c.737C>T (p.Thr246Ile)
c.698C>T (p.Thr233Ile)
n.930C>T
c.608C>T (p.Thr203Ile)
n.11C>T
c.731C>T (p.Thr244Ile)
19g.41985332G>CCA406053964ATP1A3c.737C>G (p.Thr246Ser)
c.698C>G (p.Thr233Ser)
n.930C>G
c.608C>G (p.Thr203Ser)
n.11C>G
c.731C>G (p.Thr244Ser)
19g.41985332G>TCA406053966ATP1A3c.737C>A (p.Thr246Asn)
c.698C>A (p.Thr233Asn)
n.930C>A
c.608C>A (p.Thr203Asn)
n.11C>A
c.731C>A (p.Thr244Asn)
19g.41985334_41985338delCA2585370680ATP1A3c.733_737del (p.Ile245LeufsTer?)
c.694_698del (p.Ile232LeufsTer?)
n.926_930del
c.604_608del (p.Ile202LeufsTer?)
n.7_11del
c.727_731del (p.Ile243LeufsTer?)
 gnomAD v4
19g.41985333T>ACA406053969ATP1A3c.736A>T (p.Thr246Ser)
c.697A>T (p.Thr233Ser)
n.929A>T
c.607A>T (p.Thr203Ser)
n.10A>T
c.730A>T (p.Thr244Ser)
 gnomAD v4
19g.41985333T>CCA406053970ATP1A3c.736A>G (p.Thr246Ala)
c.697A>G (p.Thr233Ala)
n.929A>G
c.607A>G (p.Thr203Ala)
n.10A>G
c.730A>G (p.Thr244Ala)
19g.41985333T>GCA406053972ATP1A3c.736A>C (p.Thr246Pro)
c.697A>C (p.Thr233Pro)
n.929A>C
c.607A>C (p.Thr203Pro)
n.10A>C
c.730A>C (p.Thr244Pro)
19g.41985334G>ACA308597439ATP1A3c.735C>T (p.Ile245=)
c.696C>T (p.Ile232=)
n.928C>T
c.606C>T (p.Ile202=)
n.9C>T
c.729C>T (p.Ile243=)
 dbSNP gnomAD v4
19g.41985334G>CCA406053975ATP1A3c.735C>G (p.Ile245Met)
c.696C>G (p.Ile232Met)
n.928C>G
c.606C>G (p.Ile202Met)
n.9C>G
c.729C>G (p.Ile243Met)
19g.41985334G=CA2336728134ATP1A3c.735C= (p.Ile245=)
c.696C= (p.Ile232=)
n.928C=
c.606C= (p.Ile202=)
n.9C=
c.729C= (p.Ile243=)
19g.41985334G>TCA507591519ATP1A3c.735C>A (p.Ile245=)
c.696C>A (p.Ile232=)
n.928C>A
c.606C>A (p.Ile202=)
n.9C>A
c.729C>A (p.Ile243=)
19g.41985335A>CCA406053981ATP1A3c.734T>G (p.Ile245Ser)
c.695T>G (p.Ile232Ser)
n.927T>G
c.605T>G (p.Ile202Ser)
n.8T>G
c.728T>G (p.Ile243Ser)
19g.41985335A>GCA406053979ATP1A3c.734T>C (p.Ile245Thr)
c.695T>C (p.Ile232Thr)
n.927T>C
c.605T>C (p.Ile202Thr)
n.8T>C
c.728T>C (p.Ile243Thr)
19g.41985335A>TCA406053977ATP1A3c.734T>A (p.Ile245Asn)
c.695T>A (p.Ile232Asn)
n.927T>A
c.605T>A (p.Ile202Asn)
n.8T>A
c.728T>A (p.Ile243Asn)
19g.41985336T>ACA406053983ATP1A3c.733A>T (p.Ile245Phe)
c.694A>T (p.Ile232Phe)
n.926A>T
c.604A>T (p.Ile202Phe)
n.7A>T
c.727A>T (p.Ile243Phe)
 dbSNP gnomAD v3 gnomAD v4
19g.41985336T>CCA406053986ATP1A3c.733A>G (p.Ile245Val)
c.694A>G (p.Ile232Val)
n.926A>G
c.604A>G (p.Ile202Val)
n.7A>G
c.727A>G (p.Ile243Val)
 dbSNP gnomAD v3 gnomAD v4
19g.41985336T>GCA406053984ATP1A3c.733A>C (p.Ile245Leu)
c.694A>C (p.Ile232Leu)
n.926A>C
c.604A>C (p.Ile202Leu)
n.7A>C
c.727A>C (p.Ile243Leu)
19g.41985336T=CA2336728135ATP1A3c.733A= (p.Ile245=)
c.694A= (p.Ile232=)
n.926A=
c.604A= (p.Ile202=)
n.7A=
c.727A= (p.Ile243=)
19g.41985337G>ACA507591538ATP1A3c.732C>T (p.Asn244=)
c.693C>T (p.Asn231=)
n.925C>T
c.603C>T (p.Asn201=)
n.6C>T
c.726C>T (p.Asn242=)
19g.41985337G>CCA406053988ATP1A3c.732C>G (p.Asn244Lys)
c.693C>G (p.Asn231Lys)
n.925C>G
c.603C>G (p.Asn201Lys)
n.6C>G
c.726C>G (p.Asn242Lys)
19g.41985337G>TCA406053990ATP1A3c.732C>A (p.Asn244Lys)
c.693C>A (p.Asn231Lys)
n.925C>A
c.603C>A (p.Asn201Lys)
n.6C>A
c.726C>A (p.Asn242Lys)
19g.41985338T>ACA406053992ATP1A3c.731A>T (p.Asn244Ile)
c.692A>T (p.Asn231Ile)
n.924A>T
c.602A>T (p.Asn201Ile)
n.5A>T
c.725A>T (p.Asn242Ile)
19g.41985338T>CCA406053996ATP1A3c.731A>G (p.Asn244Ser)
c.692A>G (p.Asn231Ser)
n.924A>G
c.602A>G (p.Asn201Ser)
n.5A>G
c.725A>G (p.Asn242Ser)
19g.41985338T>GCA406053994ATP1A3c.731A>C (p.Asn244Thr)
c.692A>C (p.Asn231Thr)
n.924A>C
c.602A>C (p.Asn201Thr)
n.5A>C
c.725A>C (p.Asn242Thr)
19g.41985339T>ACA406053998ATP1A3c.730A>T (p.Asn244Tyr)
c.691A>T (p.Asn231Tyr)
n.923A>T
c.601A>T (p.Asn201Tyr)
n.4A>T
c.724A>T (p.Asn242Tyr)
19g.41985339T>CCA406053999ATP1A3c.730A>G (p.Asn244Asp)
c.691A>G (p.Asn231Asp)
n.923A>G
c.601A>G (p.Asn201Asp)
n.4A>G
c.724A>G (p.Asn242Asp)
19g.41985339T>GCA406054001ATP1A3c.730A>C (p.Asn244His)
c.691A>C (p.Asn231His)
n.923A>C
c.601A>C (p.Asn201His)
n.4A>C
c.724A>C (p.Asn242His)
19g.41985340C>ACA507591555ATP1A3c.729G>T (p.Arg243=)
c.690G>T (p.Arg230=)
n.922G>T
c.600G>T (p.Arg200=)
n.3G>T
c.723G>T (p.Arg241=)
 gnomAD v4
19g.41985340C=CA2336728136ATP1A3c.729G= (p.Arg243=)
c.690G= (p.Arg230=)
n.922G=
c.600G= (p.Arg200=)
n.3G=
c.723G= (p.Arg241=)
19g.41985340C>GCA507591559ATP1A3c.729G>C (p.Arg243=)
c.690G>C (p.Arg230=)
n.922G>C
c.600G>C (p.Arg200=)
n.3G>C
c.723G>C (p.Arg241=)
19g.41985340C>TCA507591562ATP1A3c.729G>A (p.Arg243=)
c.690G>A (p.Arg230=)
n.922G>A
c.600G>A (p.Arg200=)
n.3G>A
c.723G>A (p.Arg241=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985341C>ACA406054002ATP1A3c.728G>T (p.Arg243Leu)
c.689G>T (p.Arg230Leu)
n.921G>T
c.599G>T (p.Arg200Leu)
n.2G>T
c.722G>T (p.Arg241Leu)
19g.41985341C=CA2336728137ATP1A3c.728G= (p.Arg243=)
c.689G= (p.Arg230=)
n.921G=
c.599G= (p.Arg200=)
n.2G=
c.722G= (p.Arg241=)
19g.41985341C>GCA9467810ATP1A3c.728G>C (p.Arg243Pro)
c.689G>C (p.Arg230Pro)
n.921G>C
c.599G>C (p.Arg200Pro)
n.2G>C
c.722G>C (p.Arg241Pro)
 dbSNP ExAC gnomAD v2
19g.41985341C>TCA406054005ATP1A3c.728G>A (p.Arg243Gln)
c.689G>A (p.Arg230Gln)
n.921G>A
c.599G>A (p.Arg200Gln)
n.2G>A
c.722G>A (p.Arg241Gln)
 dbSNP gnomAD v4
19g.41985342G>ACA9467811ATP1A3c.727C>T (p.Arg243Trp)
c.688C>T (p.Arg230Trp)
n.920C>T
c.598C>T (p.Arg200Trp)
n.1C>T
c.721C>T (p.Arg241Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985342G>CCA406054008ATP1A3c.727C>G (p.Arg243Gly)
c.688C>G (p.Arg230Gly)
n.920C>G
c.598C>G (p.Arg200Gly)
n.1C>G
c.721C>G (p.Arg241Gly)
19g.41985342G=CA2336728138ATP1A3c.727C= (p.Arg243=)
c.688C= (p.Arg230=)
n.920C=
c.598C= (p.Arg200=)
n.1C=
c.721C= (p.Arg241=)
19g.41985342G>TCA507591577ATP1A3c.727C>A (p.Arg243=)
c.688C>A (p.Arg230=)
n.920C>A
c.598C>A (p.Arg200=)
n.1C>A
c.721C>A (p.Arg241=)
19g.41985343A>CCA507591580ATP1A3c.726T>G (p.Thr242=)
c.687T>G (p.Thr229=)
n.919T>G
c.597T>G (p.Thr199=)
c.720T>G (p.Thr240=)
19g.41985343A>GCA507591583ATP1A3c.726T>C (p.Thr242=)
c.687T>C (p.Thr229=)
n.919T>C
c.597T>C (p.Thr199=)
c.720T>C (p.Thr240=)
19g.41985343A>TCA507591588ATP1A3c.726T>A (p.Thr242=)
c.687T>A (p.Thr229=)
n.919T>A
c.597T>A (p.Thr199=)
c.720T>A (p.Thr240=)
19g.41985344G>ACA406054010ATP1A3c.725C>T (p.Thr242Ile)
c.686C>T (p.Thr229Ile)
n.918C>T
c.596C>T (p.Thr199Ile)
c.719C>T (p.Thr240Ile)
19g.41985344G>CCA406054012ATP1A3c.725C>G (p.Thr242Ser)
c.686C>G (p.Thr229Ser)
n.918C>G
c.596C>G (p.Thr199Ser)
c.719C>G (p.Thr240Ser)
19g.41985344G>TCA406054013ATP1A3c.725C>A (p.Thr242Asn)
c.686C>A (p.Thr229Asn)
n.918C>A
c.596C>A (p.Thr199Asn)
c.719C>A (p.Thr240Asn)
19g.41985345T>ACA406054019ATP1A3c.724A>T (p.Thr242Ser)
c.685A>T (p.Thr229Ser)
n.917A>T
c.595A>T (p.Thr199Ser)
c.718A>T (p.Thr240Ser)
19g.41985345T>CCA406054016ATP1A3c.724A>G (p.Thr242Ala)
c.685A>G (p.Thr229Ala)
n.917A>G
c.595A>G (p.Thr199Ala)
c.718A>G (p.Thr240Ala)
19g.41985345T>GCA406054018ATP1A3c.724A>C (p.Thr242Pro)
c.685A>C (p.Thr229Pro)
n.917A>C
c.595A>C (p.Thr199Pro)
c.718A>C (p.Thr240Pro)
19g.41985346C>ACA406054021ATP1A3c.723G>T (p.Glu241Asp)
c.684G>T (p.Glu228Asp)
n.916G>T
c.594G>T (p.Glu198Asp)
c.717G>T (p.Glu239Asp)
19g.41985346C>GCA406054023ATP1A3c.723G>C (p.Glu241Asp)
c.684G>C (p.Glu228Asp)
n.916G>C
c.594G>C (p.Glu198Asp)
c.717G>C (p.Glu239Asp)
19g.41985346C>TCA507591598ATP1A3c.723G>A (p.Glu241=)
c.684G>A (p.Glu228=)
n.916G>A
c.594G>A (p.Glu198=)
c.717G>A (p.Glu239=)
 COSMIC
19g.41985347T>ACA406054025ATP1A3c.722A>T (p.Glu241Val)
c.683A>T (p.Glu228Val)
n.915A>T
c.593A>T (p.Glu198Val)
c.716A>T (p.Glu239Val)
19g.41985347T>CCA406054027ATP1A3c.722A>G (p.Glu241Gly)
c.683A>G (p.Glu228Gly)
n.915A>G
c.593A>G (p.Glu198Gly)
c.716A>G (p.Glu239Gly)
19g.41985347T>GCA406054029ATP1A3c.722A>C (p.Glu241Ala)
c.683A>C (p.Glu228Ala)
n.915A>C
c.593A>C (p.Glu198Ala)
c.716A>C (p.Glu239Ala)
19g.41985348C>ACA406054030ATP1A3c.721G>T (p.Glu241Ter)
c.682G>T (p.Glu228Ter)
n.914G>T
c.592G>T (p.Glu198Ter)
c.715G>T (p.Glu239Ter)
19g.41985348C>GCA406054032ATP1A3c.721G>C (p.Glu241Gln)
c.682G>C (p.Glu228Gln)
n.914G>C
c.592G>C (p.Glu198Gln)
c.715G>C (p.Glu239Gln)
19g.41985348C>TCA406054033ATP1A3c.721G>A (p.Glu241Lys)
c.682G>A (p.Glu228Lys)
n.914G>A
c.592G>A (p.Glu198Lys)
c.715G>A (p.Glu239Lys)
19g.41985349C>ACA406054034ATP1A3c.720G>T (p.Leu240Phe)
c.681G>T (p.Leu227Phe)
n.913G>T
c.591G>T (p.Leu197Phe)
c.714G>T (p.Leu238Phe)
19g.41985349C=CA2336728139ATP1A3c.720G= (p.Leu240=)
c.681G= (p.Leu227=)
n.913G=
c.591G= (p.Leu197=)
c.714G= (p.Leu238=)
19g.41985349C>GCA406054035ATP1A3c.720G>C (p.Leu240Phe)
c.681G>C (p.Leu227Phe)
n.913G>C
c.591G>C (p.Leu197Phe)
c.714G>C (p.Leu238Phe)
19g.41985349C>TCA507591613ATP1A3c.720G>A (p.Leu240=)
c.681G>A (p.Leu227=)
n.913G>A
c.591G>A (p.Leu197=)
c.714G>A (p.Leu238=)
 dbSNP gnomAD v2 gnomAD v4
19g.41985350A>CCA406054038ATP1A3c.719T>G (p.Leu240Trp)
c.680T>G (p.Leu227Trp)
n.912T>G
c.590T>G (p.Leu197Trp)
c.713T>G (p.Leu238Trp)
19g.41985350A>GCA406054037ATP1A3c.719T>C (p.Leu240Ser)
c.680T>C (p.Leu227Ser)
n.912T>C
c.590T>C (p.Leu197Ser)
c.713T>C (p.Leu238Ser)
 COSMIC
19g.41985350A>TCA406054036ATP1A3c.719T>A (p.Leu240Ter)
c.680T>A (p.Leu227Ter)
n.912T>A
c.590T>A (p.Leu197Ter)
c.713T>A (p.Leu238Ter)
19g.41985351A>CCA406054039ATP1A3c.718T>G (p.Leu240Val)
c.679T>G (p.Leu227Val)
n.911T>G
c.589T>G (p.Leu197Val)
c.712T>G (p.Leu238Val)
19g.41985351A>GCA507591622ATP1A3c.718T>C (p.Leu240=)
c.679T>C (p.Leu227=)
n.911T>C
c.589T>C (p.Leu197=)
c.712T>C (p.Leu238=)
 gnomAD v4
19g.41985351A>TCA406054040ATP1A3c.718T>A (p.Leu240Met)
c.679T>A (p.Leu227Met)
n.911T>A
c.589T>A (p.Leu197Met)
c.712T>A (p.Leu238Met)
19g.41985352G>ACA9467813ATP1A3c.717C>T (p.Pro239=)
c.678C>T (p.Pro226=)
n.910C>T
c.588C>T (p.Pro196=)
c.711C>T (p.Pro237=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985352G>CCA9467812ATP1A3c.717C>G (p.Pro239=)
c.678C>G (p.Pro226=)
n.910C>G
c.588C>G (p.Pro196=)
c.711C>G (p.Pro237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985352G=CA2336728140ATP1A3c.717C= (p.Pro239=)
c.678C= (p.Pro226=)
n.910C=
c.588C= (p.Pro196=)
c.711C= (p.Pro237=)
19g.41985352G>TCA507591650ATP1A3c.717C>A (p.Pro239=)
c.678C>A (p.Pro226=)
n.910C>A
c.588C>A (p.Pro196=)
c.711C>A (p.Pro237=)
19g.41985353G>ACA406054041ATP1A3c.716C>T (p.Pro239Leu)
c.677C>T (p.Pro226Leu)
n.909C>T
c.587C>T (p.Pro196Leu)
c.710C>T (p.Pro237Leu)
19g.41985353G>CCA406054042ATP1A3c.716C>G (p.Pro239Arg)
c.677C>G (p.Pro226Arg)
n.909C>G
c.587C>G (p.Pro196Arg)
c.710C>G (p.Pro237Arg)
19g.41985353G>TCA406054043ATP1A3c.716C>A (p.Pro239His)
c.677C>A (p.Pro226His)
n.909C>A
c.587C>A (p.Pro196His)
c.710C>A (p.Pro237His)
19g.41985354G>ACA406054044ATP1A3c.715C>T (p.Pro239Ser)
c.676C>T (p.Pro226Ser)
n.908C>T
c.586C>T (p.Pro196Ser)
c.709C>T (p.Pro237Ser)
 gnomAD v4 COSMIC
19g.41985354G>CCA406054045ATP1A3c.715C>G (p.Pro239Ala)
c.676C>G (p.Pro226Ala)
n.908C>G
c.586C>G (p.Pro196Ala)
c.709C>G (p.Pro237Ala)
19g.41985354G>TCA406054046ATP1A3c.715C>A (p.Pro239Thr)
c.676C>A (p.Pro226Thr)
n.908C>A
c.586C>A (p.Pro196Thr)
c.709C>A (p.Pro237Thr)
19g.41985355G>ACA507591675ATP1A3c.714C>T (p.Asn238=)
c.675C>T (p.Asn225=)
n.907C>T
c.585C>T (p.Asn195=)
c.708C>T (p.Asn236=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985355G>CCA406054047ATP1A3c.714C>G (p.Asn238Lys)
c.675C>G (p.Asn225Lys)
n.907C>G
c.585C>G (p.Asn195Lys)
c.708C>G (p.Asn236Lys)
19g.41985355G=CA2336728141ATP1A3c.714C= (p.Asn238=)
c.675C= (p.Asn225=)
n.907C=
c.585C= (p.Asn195=)
c.708C= (p.Asn236=)
19g.41985355G>TCA406054048ATP1A3c.714C>A (p.Asn238Lys)
c.675C>A (p.Asn225Lys)
n.907C>A
c.585C>A (p.Asn195Lys)
c.708C>A (p.Asn236Lys)
19g.41985356T>ACA406054051ATP1A3c.713A>T (p.Asn238Ile)
c.674A>T (p.Asn225Ile)
n.906A>T
c.584A>T (p.Asn195Ile)
c.707A>T (p.Asn236Ile)
19g.41985356T>CCA406054049ATP1A3c.713A>G (p.Asn238Ser)
c.674A>G (p.Asn225Ser)
n.906A>G
c.584A>G (p.Asn195Ser)
c.707A>G (p.Asn236Ser)
19g.41985356T>GCA406054050ATP1A3c.713A>C (p.Asn238Thr)
c.674A>C (p.Asn225Thr)
n.906A>C
c.584A>C (p.Asn195Thr)
c.707A>C (p.Asn236Thr)
19g.41985357T>ACA406054052ATP1A3c.712A>T (p.Asn238Tyr)
c.673A>T (p.Asn225Tyr)
n.905A>T
c.583A>T (p.Asn195Tyr)
c.706A>T (p.Asn236Tyr)
19g.41985357T>CCA406054053ATP1A3c.712A>G (p.Asn238Asp)
c.673A>G (p.Asn225Asp)
n.905A>G
c.583A>G (p.Asn195Asp)
c.706A>G (p.Asn236Asp)
19g.41985357T>GCA406054054ATP1A3c.712A>C (p.Asn238His)
c.673A>C (p.Asn225His)
n.905A>C
c.583A>C (p.Asn195His)
c.706A>C (p.Asn236His)
19g.41985358G>ACA308597452ATP1A3c.711C>T (p.Asp237=)
c.672C>T (p.Asp224=)
n.904C>T
c.582C>T (p.Asp194=)
c.705C>T (p.Asp235=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41985358G>CCA406054055ATP1A3c.711C>G (p.Asp237Glu)
c.672C>G (p.Asp224Glu)
n.904C>G
c.582C>G (p.Asp194Glu)
c.705C>G (p.Asp235Glu)
19g.41985358G=CA2336728142ATP1A3c.711C= (p.Asp237=)
c.672C= (p.Asp224=)
n.904C=
c.582C= (p.Asp194=)
c.705C= (p.Asp235=)
19g.41985358G>TCA406054056ATP1A3c.711C>A (p.Asp237Glu)
c.672C>A (p.Asp224Glu)
n.904C>A
c.582C>A (p.Asp194Glu)
c.705C>A (p.Asp235Glu)
19g.41985359T>ACA406054057ATP1A3c.710A>T (p.Asp237Val)
c.671A>T (p.Asp224Val)
n.903A>T
c.581A>T (p.Asp194Val)
c.704A>T (p.Asp235Val)
19g.41985359T>CCA406054058ATP1A3c.710A>G (p.Asp237Gly)
c.671A>G (p.Asp224Gly)
n.903A>G
c.581A>G (p.Asp194Gly)
c.704A>G (p.Asp235Gly)
19g.41985359T>GCA406054059ATP1A3c.710A>C (p.Asp237Ala)
c.671A>C (p.Asp224Ala)
n.903A>C
c.581A>C (p.Asp194Ala)
c.704A>C (p.Asp235Ala)
19g.41985360C>ACA406054060ATP1A3c.709G>T (p.Asp237Tyr)
c.670G>T (p.Asp224Tyr)
n.902G>T
c.580G>T (p.Asp194Tyr)
c.703G>T (p.Asp235Tyr)
19g.41985360C=CA2336728143ATP1A3c.709G= (p.Asp237=)
c.670G= (p.Asp224=)
n.902G=
c.580G= (p.Asp194=)
c.703G= (p.Asp235=)
19g.41985360C>GCA406054061ATP1A3c.709G>C (p.Asp237His)
c.670G>C (p.Asp224His)
n.902G>C
c.580G>C (p.Asp194His)
c.703G>C (p.Asp235His)
19g.41985360C>TCA406054062ATP1A3c.709G>A (p.Asp237Asn)
c.670G>A (p.Asp224Asn)
n.902G>A
c.580G>A (p.Asp194Asn)
c.703G>A (p.Asp235Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985361G>ACA9467814ATP1A3c.708C>T (p.His236=)
c.669C>T (p.His223=)
n.901C>T
c.579C>T (p.His193=)
c.702C>T (p.His234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41985361G>CCA406054064ATP1A3c.708C>G (p.His236Gln)
c.669C>G (p.His223Gln)
n.901C>G
c.579C>G (p.His193Gln)
c.702C>G (p.His234Gln)
19g.41985361G=CA2336728144ATP1A3c.708C= (p.His236=)
c.669C= (p.His223=)
n.901C=
c.579C= (p.His193=)
c.702C= (p.His234=)
19g.41985361G>TCA406054063ATP1A3c.708C>A (p.His236Gln)
c.669C>A (p.His223Gln)
n.901C>A
c.579C>A (p.His193Gln)
c.702C>A (p.His234Gln)
19g.41985362T>ACA406054067ATP1A3c.707A>T (p.His236Leu)
c.668A>T (p.His223Leu)
n.900A>T
c.578A>T (p.His193Leu)
c.701A>T (p.His234Leu)
19g.41985362T>CCA406054065ATP1A3c.707A>G (p.His236Arg)
c.668A>G (p.His223Arg)
n.900A>G
c.578A>G (p.His193Arg)
c.701A>G (p.His234Arg)
19g.41985362T>GCA406054066ATP1A3c.707A>C (p.His236Pro)
c.668A>C (p.His223Pro)
n.900A>C
c.578A>C (p.His193Pro)
c.701A>C (p.His234Pro)
19g.41985363G>ACA406054068ATP1A3c.706C>T (p.His236Tyr)
c.667C>T (p.His223Tyr)
n.899C>T
c.577C>T (p.His193Tyr)
c.700C>T (p.His234Tyr)
19g.41985363G>CCA406054069ATP1A3c.706C>G (p.His236Asp)
c.667C>G (p.His223Asp)
n.899C>G
c.577C>G (p.His193Asp)
c.700C>G (p.His234Asp)
19g.41985363G>TCA406054070ATP1A3c.706C>A (p.His236Asn)
c.667C>A (p.His223Asn)
n.899C>A
c.577C>A (p.His193Asn)
c.700C>A (p.His234Asn)
19g.41985364A=CA2336728145ATP1A3c.705T= (p.Thr235=)
c.666T= (p.Thr222=)
n.898T=
c.576T= (p.Thr192=)
c.699T= (p.Thr233=)
19g.41985364A>CCA171287ATP1A3c.705T>G (p.Thr235=)
c.666T>G (p.Thr222=)
n.898T>G
c.576T>G (p.Thr192=)
c.699T>G (p.Thr233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985364A>GCA507591728ATP1A3c.705T>C (p.Thr235=)
c.666T>C (p.Thr222=)
n.898T>C
c.576T>C (p.Thr192=)
c.699T>C (p.Thr233=)
19g.41985364A>TCA9467815ATP1A3c.705T>A (p.Thr235=)
c.666T>A (p.Thr222=)
n.898T>A
c.576T>A (p.Thr192=)
c.699T>A (p.Thr233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985364_41985365delinsCACA2573156418ATP1A3c.704_705delinsTG (p.Thr235Met)
c.665_666delinsTG (p.Thr222Met)
n.897_898delinsTG
c.575_576delinsTG (p.Thr192Met)
c.698_699delinsTG (p.Thr233Met)
 ClinVar dbSNP
19g.41985365delCA996012160ATP1A3c.704del (p.Thr235IlefsTer?)
c.665del (p.Thr222IlefsTer?)
n.897del
c.575del (p.Thr192IlefsTer?)
c.698del (p.Thr233IlefsTer?)
 gnomAD v3 gnomAD v4
19g.41985365G>ACA406054073ATP1A3c.704C>T (p.Thr235Ile)
c.665C>T (p.Thr222Ile)
n.897C>T
c.575C>T (p.Thr192Ile)
c.698C>T (p.Thr233Ile)
 dbSNP gnomAD v4
19g.41985365G>CCA406054071ATP1A3c.704C>G (p.Thr235Ser)
c.665C>G (p.Thr222Ser)
n.897C>G
c.575C>G (p.Thr192Ser)
c.698C>G (p.Thr233Ser)
19g.41985365G=CA2336728146ATP1A3c.704C= (p.Thr235=)
c.665C= (p.Thr222=)
n.897C=
c.575C= (p.Thr192=)
c.698C= (p.Thr233=)
19g.41985365G>TCA406054072ATP1A3c.704C>A (p.Thr235Asn)
c.665C>A (p.Thr222Asn)
n.897C>A
c.575C>A (p.Thr192Asn)
c.698C>A (p.Thr233Asn)
19g.41985366T>ACA406054074ATP1A3c.703A>T (p.Thr235Ser)
c.664A>T (p.Thr222Ser)
n.896A>T
c.574A>T (p.Thr192Ser)
c.697A>T (p.Thr233Ser)
19g.41985366T>CCA406054075ATP1A3c.703A>G (p.Thr235Ala)
c.664A>G (p.Thr222Ala)
n.896A>G
c.574A>G (p.Thr192Ala)
c.697A>G (p.Thr233Ala)
19g.41985366T>GCA406054076ATP1A3c.703A>C (p.Thr235Pro)
c.664A>C (p.Thr222Pro)
n.896A>C
c.574A>C (p.Thr192Pro)
c.697A>C (p.Thr233Pro)
19g.41985367G>ACA507591749ATP1A3c.702C>T (p.Cys234=)
c.663C>T (p.Cys221=)
n.895C>T
c.573C>T (p.Cys191=)
c.696C>T (p.Cys232=)
19g.41985367G>CCA406054077ATP1A3c.702C>G (p.Cys234Trp)
c.663C>G (p.Cys221Trp)
n.895C>G
c.573C>G (p.Cys191Trp)
c.696C>G (p.Cys232Trp)
19g.41985367G>TCA406054078ATP1A3c.702C>A (p.Cys234Ter)
c.663C>A (p.Cys221Ter)
n.895C>A
c.573C>A (p.Cys191Ter)
c.696C>A (p.Cys232Ter)
19g.41985368C>ACA406054079ATP1A3c.701G>T (p.Cys234Phe)
c.662G>T (p.Cys221Phe)
n.894G>T
c.572G>T (p.Cys191Phe)
c.695G>T (p.Cys232Phe)
 gnomAD v4
19g.41985368C=CA2336728147ATP1A3c.701G= (p.Cys234=)
c.662G= (p.Cys221=)
n.894G=
c.572G= (p.Cys191=)
c.695G= (p.Cys232=)
19g.41985368C>GCA406054080ATP1A3c.701G>C (p.Cys234Ser)
c.662G>C (p.Cys221Ser)
n.894G>C
c.572G>C (p.Cys191Ser)
c.695G>C (p.Cys232Ser)
19g.41985368C>TCA9467816ATP1A3c.701G>A (p.Cys234Tyr)
c.662G>A (p.Cys221Tyr)
n.894G>A
c.572G>A (p.Cys191Tyr)
c.695G>A (p.Cys232Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985369A>CCA406054081ATP1A3c.700T>G (p.Cys234Gly)
c.661T>G (p.Cys221Gly)
n.893T>G
c.571T>G (p.Cys191Gly)
c.694T>G (p.Cys232Gly)
19g.41985369A>GCA406054082ATP1A3c.700T>C (p.Cys234Arg)
c.661T>C (p.Cys221Arg)
n.893T>C
c.571T>C (p.Cys191Arg)
c.694T>C (p.Cys232Arg)
19g.41985369A>TCA406054083ATP1A3c.700T>A (p.Cys234Ser)
c.661T>A (p.Cys221Ser)
n.893T>A
c.571T>A (p.Cys191Ser)
c.694T>A (p.Cys232Ser)
19g.41985370G>ACA507591766ATP1A3c.699C>T (p.Asp233=)
c.660C>T (p.Asp220=)
n.892C>T
c.570C>T (p.Asp190=)
c.693C>T (p.Asp231=)
19g.41985370G>CCA406054084ATP1A3c.699C>G (p.Asp233Glu)
c.660C>G (p.Asp220Glu)
n.892C>G
c.570C>G (p.Asp190Glu)
c.693C>G (p.Asp231Glu)
19g.41985370G>TCA406054085ATP1A3c.699C>A (p.Asp233Glu)
c.660C>A (p.Asp220Glu)
n.892C>A
c.570C>A (p.Asp190Glu)
c.693C>A (p.Asp231Glu)
19g.41985371T>ACA406054086ATP1A3c.698A>T (p.Asp233Val)
c.659A>T (p.Asp220Val)
n.891A>T
c.569A>T (p.Asp190Val)
c.692A>T (p.Asp231Val)
 ClinVar
19g.41985371T>CCA406054087ATP1A3c.698A>G (p.Asp233Gly)
c.659A>G (p.Asp220Gly)
n.891A>G
c.569A>G (p.Asp190Gly)
c.692A>G (p.Asp231Gly)
19g.41985371T>GCA406054088ATP1A3c.698A>C (p.Asp233Ala)
c.659A>C (p.Asp220Ala)
n.891A>C
c.569A>C (p.Asp190Ala)
c.692A>C (p.Asp231Ala)
 ClinVar dbSNP
19g.41985372C>ACA406054089ATP1A3c.697G>T (p.Asp233Tyr)
c.658G>T (p.Asp220Tyr)
n.890G>T
c.568G>T (p.Asp190Tyr)
c.691G>T (p.Asp231Tyr)
 gnomAD v4
19g.41985372C=CA2336728148ATP1A3c.697G= (p.Asp233=)
c.658G= (p.Asp220=)
n.890G=
c.568G= (p.Asp190=)
c.691G= (p.Asp231=)
19g.41985372C>GCA406054090ATP1A3c.697G>C (p.Asp233His)
c.658G>C (p.Asp220His)
n.890G>C
c.568G>C (p.Asp190His)
c.691G>C (p.Asp231His)
19g.41985372C>TCA406054091ATP1A3c.697G>A (p.Asp233Asn)
c.658G>A (p.Asp220Asn)
n.890G>A
c.568G>A (p.Asp190Asn)
c.691G>A (p.Asp231Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985373G>ACA9467817ATP1A3c.696C>T (p.Pro232=)
c.657C>T (p.Pro219=)
n.889C>T
c.567C>T (p.Pro189=)
c.690C>T (p.Pro230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985373G>CCA507591781ATP1A3c.696C>G (p.Pro232=)
c.657C>G (p.Pro219=)
n.889C>G
c.567C>G (p.Pro189=)
c.690C>G (p.Pro230=)
19g.41985373G=CA2336728149ATP1A3c.696C= (p.Pro232=)
c.657C= (p.Pro219=)
n.889C=
c.567C= (p.Pro189=)
c.690C= (p.Pro230=)
19g.41985373G>TCA507591784ATP1A3c.696C>A (p.Pro232=)
c.657C>A (p.Pro219=)
n.889C>A
c.567C>A (p.Pro189=)
c.690C>A (p.Pro230=)
19g.41985374G>ACA406054094ATP1A3c.695C>T (p.Pro232Leu)
c.656C>T (p.Pro219Leu)
n.888C>T
c.566C>T (p.Pro189Leu)
c.689C>T (p.Pro230Leu)
19g.41985374G>CCA406054092ATP1A3c.695C>G (p.Pro232Arg)
c.656C>G (p.Pro219Arg)
n.888C>G
c.566C>G (p.Pro189Arg)
c.689C>G (p.Pro230Arg)
19g.41985374G>TCA406054093ATP1A3c.695C>A (p.Pro232His)
c.656C>A (p.Pro219His)
n.888C>A
c.566C>A (p.Pro189His)
c.689C>A (p.Pro230His)
19g.41985375G>ACA406054095ATP1A3c.694C>T (p.Pro232Ser)
c.655C>T (p.Pro219Ser)
n.887C>T
c.565C>T (p.Pro189Ser)
c.688C>T (p.Pro230Ser)
19g.41985375G>CCA9467818ATP1A3c.694C>G (p.Pro232Ala)
c.655C>G (p.Pro219Ala)
n.887C>G
c.565C>G (p.Pro189Ala)
c.688C>G (p.Pro230Ala)
 dbSNP ExAC gnomAD v2
19g.41985375G=CA2336728150ATP1A3c.694C= (p.Pro232=)
c.655C= (p.Pro219=)
n.887C=
c.565C= (p.Pro189=)
c.688C= (p.Pro230=)
19g.41985375G>TCA406054096ATP1A3c.694C>A (p.Pro232Thr)
c.655C>A (p.Pro219Thr)
n.887C>A
c.565C>A (p.Pro189Thr)
c.688C>A (p.Pro230Thr)
 dbSNP

Number of alleles fetched