Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41970310_41970388delCA2814441549ATP1A3c.2457+3_2459del
c.2418+3_2420del
c.2451+3_2453del
c.2328+3_2330del
19g.41970326G>ACA9467389ATP1A3c.2458-18C>T (n.2458-18C>T)
c.2419-18C>T (n.2419-18C>T)
c.2452-18C>T (n.2452-18C>T)
c.2329-18C>T (n.2329-18C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970326G=CA2336720803ATP1A3c.2458-18C= (n.2458-18C=)
c.2419-18C= (n.2419-18C=)
c.2452-18C= (n.2452-18C=)
c.2329-18C= (n.2329-18C=)
19g.41970327G>ACA2336720805ATP1A3c.2458-19C>T (n.2458-19C>T)
c.2419-19C>T (n.2419-19C>T)
c.2452-19C>T (n.2452-19C>T)
c.2329-19C>T (n.2329-19C>T)
dbSNP gnomAD v4
19g.41970327G=CA2336720804ATP1A3c.2458-19C= (n.2458-19C=)
c.2419-19C= (n.2419-19C=)
c.2452-19C= (n.2452-19C=)
c.2329-19C= (n.2329-19C=)
19g.41970328T>GCA2336720807ATP1A3c.2458-20A>C (n.2458-20A>C)
c.2419-20A>C (n.2419-20A>C)
c.2452-20A>C (n.2452-20A>C)
c.2329-20A>C (n.2329-20A>C)
dbSNP
19g.41970328T=CA2336720806ATP1A3c.2458-20A= (n.2458-20A=)
c.2419-20A= (n.2419-20A=)
c.2452-20A= (n.2452-20A=)
c.2329-20A= (n.2329-20A=)
19g.41970329G>ACA9467390ATP1A3c.2458-21C>T (n.2458-21C>T)
c.2419-21C>T (n.2419-21C>T)
c.2452-21C>T (n.2452-21C>T)
c.2329-21C>T (n.2329-21C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970329G=CA2336720810ATP1A3c.2458-21C= (n.2458-21C=)
c.2419-21C= (n.2419-21C=)
c.2452-21C= (n.2452-21C=)
c.2329-21C= (n.2329-21C=)
19g.41970331G>ACA2585368931ATP1A3c.2458-23C>T (n.2458-23C>T)
c.2419-23C>T (n.2419-23C>T)
c.2452-23C>T (n.2452-23C>T)
c.2329-23C>T (n.2329-23C>T)
gnomAD v4
19g.41970333C>ACA633471486ATP1A3c.2458-25G>T (n.2458-25G>T)
c.2419-25G>T (n.2419-25G>T)
c.2452-25G>T (n.2452-25G>T)
c.2329-25G>T (n.2329-25G>T)
dbSNP gnomAD v2 gnomAD v4
19g.41970333C=CA2336720811ATP1A3c.2458-25G= (n.2458-25G=)
c.2419-25G= (n.2419-25G=)
c.2452-25G= (n.2452-25G=)
c.2329-25G= (n.2329-25G=)
19g.41970333C>GCA2585368932ATP1A3c.2458-25G>C (n.2458-25G>C)
c.2419-25G>C (n.2419-25G>C)
c.2452-25G>C (n.2452-25G>C)
c.2329-25G>C (n.2329-25G>C)
gnomAD v4
19g.41970333C>TCA9467391ATP1A3c.2458-25G>A (n.2458-25G>A)
c.2419-25G>A (n.2419-25G>A)
c.2452-25G>A (n.2452-25G>A)
c.2329-25G>A (n.2329-25G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970334G>ACA9467392ATP1A3c.2458-26C>T (n.2458-26C>T)
c.2419-26C>T (n.2419-26C>T)
c.2452-26C>T (n.2452-26C>T)
c.2329-26C>T (n.2329-26C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970334G=CA2336720812ATP1A3c.2458-26C= (n.2458-26C=)
c.2419-26C= (n.2419-26C=)
c.2452-26C= (n.2452-26C=)
c.2329-26C= (n.2329-26C=)
19g.41970334G>TCA2585368933ATP1A3c.2458-26C>A (n.2458-26C>A)
c.2419-26C>A (n.2419-26C>A)
c.2452-26C>A (n.2452-26C>A)
c.2329-26C>A (n.2329-26C>A)
gnomAD v4
19g.41970335G>CCA9467393ATP1A3c.2458-27C>G (n.2458-27C>G)
c.2419-27C>G (n.2419-27C>G)
c.2452-27C>G (n.2452-27C>G)
c.2329-27C>G (n.2329-27C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970335G=CA2336720813ATP1A3c.2458-27C= (n.2458-27C=)
c.2419-27C= (n.2419-27C=)
c.2452-27C= (n.2452-27C=)
c.2329-27C= (n.2329-27C=)
19g.41970336A>GCA2585368934ATP1A3c.2458-28T>C (n.2458-28T>C)
c.2419-28T>C (n.2419-28T>C)
c.2452-28T>C (n.2452-28T>C)
c.2329-28T>C (n.2329-28T>C)
gnomAD v4
19g.41970337G>ACA633471487ATP1A3c.2458-29C>T (n.2458-29C>T)
c.2419-29C>T (n.2419-29C>T)
c.2452-29C>T (n.2452-29C>T)
c.2329-29C>T (n.2329-29C>T)
dbSNP gnomAD v2
19g.41970337G=CA2336720815ATP1A3c.2458-29C= (n.2458-29C=)
c.2419-29C= (n.2419-29C=)
c.2452-29C= (n.2452-29C=)
c.2329-29C= (n.2329-29C=)
19g.41970338delCA2576797076ATP1A3c.2458-30del (n.2458-30del)
c.2419-30del (n.2419-30del)
c.2452-30del (n.2452-30del)
c.2329-30del (n.2329-30del)
19g.41970338A>GCA2576797077ATP1A3c.2458-30T>C (n.2458-30T>C)
c.2419-30T>C (n.2419-30T>C)
c.2452-30T>C (n.2452-30T>C)
c.2329-30T>C (n.2329-30T>C)
19g.41970339G=CA2336720816ATP1A3c.2458-31C= (n.2458-31C=)
c.2419-31C= (n.2419-31C=)
c.2452-31C= (n.2452-31C=)
c.2329-31C= (n.2329-31C=)
19g.41970339G>TCA633471488ATP1A3c.2458-31C>A (n.2458-31C>A)
c.2419-31C>A (n.2419-31C>A)
c.2452-31C>A (n.2452-31C>A)
c.2329-31C>A (n.2329-31C>A)
dbSNP gnomAD v2 gnomAD v4
19g.41970340G>ACA2585368935ATP1A3c.2458-32C>T (n.2458-32C>T)
c.2419-32C>T (n.2419-32C>T)
c.2452-32C>T (n.2452-32C>T)
c.2329-32C>T (n.2329-32C>T)
gnomAD v4
19g.41970341G>TCA2585368936ATP1A3c.2458-33C>A (n.2458-33C>A)
c.2419-33C>A (n.2419-33C>A)
c.2452-33C>A (n.2452-33C>A)
c.2329-33C>A (n.2329-33C>A)
gnomAD v4
19g.41970342G>ACA2585368937ATP1A3c.2458-34C>T (n.2458-34C>T)
c.2419-34C>T (n.2419-34C>T)
c.2452-34C>T (n.2452-34C>T)
c.2329-34C>T (n.2329-34C>T)
gnomAD v4
19g.41970343A=CA2336720818ATP1A3c.2458-35T= (n.2458-35T=)
c.2419-35T= (n.2419-35T=)
c.2452-35T= (n.2452-35T=)
c.2329-35T= (n.2329-35T=)
19g.41970343A>GCA9467394ATP1A3c.2458-35T>C (n.2458-35T>C)
c.2419-35T>C (n.2419-35T>C)
c.2452-35T>C (n.2452-35T>C)
c.2329-35T>C (n.2329-35T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970347C>ACA996017804ATP1A3c.2458-39G>T (n.2458-39G>T)
c.2419-39G>T (n.2419-39G>T)
c.2452-39G>T (n.2452-39G>T)
c.2329-39G>T (n.2329-39G>T)
dbSNP gnomAD v3 gnomAD v4
19g.41970347C=CA2336720819ATP1A3c.2458-39G= (n.2458-39G=)
c.2419-39G= (n.2419-39G=)
c.2452-39G= (n.2452-39G=)
c.2329-39G= (n.2329-39G=)
19g.41970347C>GCA9467395ATP1A3c.2458-39G>C (n.2458-39G>C)
c.2419-39G>C (n.2419-39G>C)
c.2452-39G>C (n.2452-39G>C)
c.2329-39G>C (n.2329-39G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970348T>CCA882382244ATP1A3c.2458-40A>G (n.2458-40A>G)
c.2419-40A>G (n.2419-40A>G)
c.2452-40A>G (n.2452-40A>G)
c.2329-40A>G (n.2329-40A>G)
dbSNP gnomAD v3 gnomAD v4
19g.41970348T=CA2336720821ATP1A3c.2458-40A= (n.2458-40A=)
c.2419-40A= (n.2419-40A=)
c.2452-40A= (n.2452-40A=)
c.2329-40A= (n.2329-40A=)
19g.41970349C=CA2336720822ATP1A3c.2457+39G= (n.2457+39G=)
c.2418+39G= (n.2418+39G=)
c.2451+39G= (n.2451+39G=)
c.2328+39G= (n.2328+39G=)
19g.41970349C>GCA633471489ATP1A3c.2457+39G>C (n.2457+39G>C)
c.2418+39G>C (n.2418+39G>C)
c.2451+39G>C (n.2451+39G>C)
c.2328+39G>C (n.2328+39G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970349C>TCA2336720823ATP1A3c.2457+39G>A (n.2457+39G>A)
c.2418+39G>A (n.2418+39G>A)
c.2451+39G>A (n.2451+39G>A)
c.2328+39G>A (n.2328+39G>A)
dbSNP gnomAD v4
19g.41970350C>TCA2585368938ATP1A3c.2457+38G>A (n.2457+38G>A)
c.2418+38G>A (n.2418+38G>A)
c.2451+38G>A (n.2451+38G>A)
c.2328+38G>A (n.2328+38G>A)
gnomAD v4
19g.41970350_41970351insTCCGCCAGGAGGCA2582171066ATP1A3c.2457+37_2457+38insCCTCCTGGCGGA (n.2457+37_2457+38insCCTCCTGGCGGA)
c.2418+37_2418+38insCCTCCTGGCGGA (n.2418+37_2418+38insCCTCCTGGCGGA)
c.2451+37_2451+38insCCTCCTGGCGGA (n.2451+37_2451+38insCCTCCTGGCGGA)
c.2328+37_2328+38insCCTCCTGGCGGA (n.2328+37_2328+38insCCTCCTGGCGGA)
gnomAD v3 gnomAD v4
19g.41970351_41970352delinsACCA2336720824ATP1A3c.2457+36_2457+37delinsGT (n.2457+36_2457+37delinsGT)
c.2418+36_2418+37delinsGT (n.2418+36_2418+37delinsGT)
c.2451+36_2451+37delinsGT (n.2451+36_2451+37delinsGT)
c.2328+36_2328+37delinsGT (n.2328+36_2328+37delinsGT)
19g.41970352C=CA2336720827ATP1A3c.2457+36G= (n.2457+36G=)
c.2418+36G= (n.2418+36G=)
c.2451+36G= (n.2451+36G=)
c.2328+36G= (n.2328+36G=)
19g.41970352C>GCA2336720828ATP1A3c.2457+36G>C (n.2457+36G>C)
c.2418+36G>C (n.2418+36G>C)
c.2451+36G>C (n.2451+36G>C)
c.2328+36G>C (n.2328+36G>C)
dbSNP
19g.41970352C>TCA9467397ATP1A3c.2457+36G>A (n.2457+36G>A)
c.2418+36G>A (n.2418+36G>A)
c.2451+36G>A (n.2451+36G>A)
c.2328+36G>A (n.2328+36G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970354delCA9467396ATP1A3c.2457+36del (n.2457+36del)
c.2418+36del (n.2418+36del)
c.2451+36del (n.2451+36del)
c.2328+36del (n.2328+36del)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970352_41970353insTCA2582171067ATP1A3c.2457+35_2457+36insA (n.2457+35_2457+36insA)
c.2418+35_2418+36insA (n.2418+35_2418+36insA)
c.2451+35_2451+36insA (n.2451+35_2451+36insA)
c.2328+35_2328+36insA (n.2328+35_2328+36insA)
gnomAD v3 gnomAD v4
19g.41970353C=CA2336720830ATP1A3c.2457+35G= (n.2457+35G=)
c.2418+35G= (n.2418+35G=)
c.2451+35G= (n.2451+35G=)
c.2328+35G= (n.2328+35G=)
19g.41970353C>TCA9467398ATP1A3c.2457+35G>A (n.2457+35G>A)
c.2418+35G>A (n.2418+35G>A)
c.2451+35G>A (n.2451+35G>A)
c.2328+35G>A (n.2328+35G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970354C>ACA9467399ATP1A3c.2457+34G>T (n.2457+34G>T)
c.2418+34G>T (n.2418+34G>T)
c.2451+34G>T (n.2451+34G>T)
c.2328+34G>T (n.2328+34G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970354C=CA2336720832ATP1A3c.2457+34G= (n.2457+34G=)
c.2418+34G= (n.2418+34G=)
c.2451+34G= (n.2451+34G=)
c.2328+34G= (n.2328+34G=)
19g.41970356C=CA2336720834ATP1A3c.2457+32G= (n.2457+32G=)
c.2418+32G= (n.2418+32G=)
c.2451+32G= (n.2451+32G=)
c.2328+32G= (n.2328+32G=)
19g.41970356C>TCA633471503ATP1A3c.2457+32G>A (n.2457+32G>A)
c.2418+32G>A (n.2418+32G>A)
c.2451+32G>A (n.2451+32G>A)
c.2328+32G>A (n.2328+32G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970359G>ACA308586459ATP1A3c.2457+29C>T (n.2457+29C>T)
c.2418+29C>T (n.2418+29C>T)
c.2451+29C>T (n.2451+29C>T)
c.2328+29C>T (n.2328+29C>T)
dbSNP gnomAD v2 gnomAD v4
19g.41970359G=CA2336720836ATP1A3c.2457+29C= (n.2457+29C=)
c.2418+29C= (n.2418+29C=)
c.2451+29C= (n.2451+29C=)
c.2328+29C= (n.2328+29C=)
19g.41970360G>ACA9467400ATP1A3c.2457+28C>T (n.2457+28C>T)
c.2418+28C>T (n.2418+28C>T)
c.2451+28C>T (n.2451+28C>T)
c.2328+28C>T (n.2328+28C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970360G=CA2336720837ATP1A3c.2457+28C= (n.2457+28C=)
c.2418+28C= (n.2418+28C=)
c.2451+28C= (n.2451+28C=)
c.2328+28C= (n.2328+28C=)
19g.41970361G>ACA633471504ATP1A3c.2457+27C>T (n.2457+27C>T)
c.2418+27C>T (n.2418+27C>T)
c.2451+27C>T (n.2451+27C>T)
c.2328+27C>T (n.2328+27C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970361G=CA2336720839ATP1A3c.2457+27C= (n.2457+27C=)
c.2418+27C= (n.2418+27C=)
c.2451+27C= (n.2451+27C=)
c.2328+27C= (n.2328+27C=)
19g.41970362C>TCA2585368939ATP1A3c.2457+26G>A (n.2457+26G>A)
c.2418+26G>A (n.2418+26G>A)
c.2451+26G>A (n.2451+26G>A)
c.2328+26G>A (n.2328+26G>A)
gnomAD v4
19g.41970364C>ACA9467401ATP1A3c.2457+24G>T (n.2457+24G>T)
c.2418+24G>T (n.2418+24G>T)
c.2451+24G>T (n.2451+24G>T)
c.2328+24G>T (n.2328+24G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970364C=CA2336720842ATP1A3c.2457+24G= (n.2457+24G=)
c.2418+24G= (n.2418+24G=)
c.2451+24G= (n.2451+24G=)
c.2328+24G= (n.2328+24G=)
19g.41970364C>TCA633471505ATP1A3c.2457+24G>A (n.2457+24G>A)
c.2418+24G>A (n.2418+24G>A)
c.2451+24G>A (n.2451+24G>A)
c.2328+24G>A (n.2328+24G>A)
dbSNP gnomAD v2 gnomAD v4
19g.41970365C=CA2336720845ATP1A3c.2457+23G= (n.2457+23G=)
c.2418+23G= (n.2418+23G=)
c.2451+23G= (n.2451+23G=)
c.2328+23G= (n.2328+23G=)
19g.41970365C>TCA2336720844ATP1A3c.2457+23G>A (n.2457+23G>A)
c.2418+23G>A (n.2418+23G>A)
c.2451+23G>A (n.2451+23G>A)
c.2328+23G>A (n.2328+23G>A)
dbSNP
19g.41970366A=CA2336720846ATP1A3c.2457+22T= (n.2457+22T=)
c.2418+22T= (n.2418+22T=)
c.2451+22T= (n.2451+22T=)
c.2328+22T= (n.2328+22T=)
19g.41970366A>GCA2576797078ATP1A3c.2457+22T>C (n.2457+22T>C)
c.2418+22T>C (n.2418+22T>C)
c.2451+22T>C (n.2451+22T>C)
c.2328+22T>C (n.2328+22T>C)
19g.41970366A>TCA2336720847ATP1A3c.2457+22T>A (n.2457+22T>A)
c.2418+22T>A (n.2418+22T>A)
c.2451+22T>A (n.2451+22T>A)
c.2328+22T>A (n.2328+22T>A)
dbSNP
19g.41970367A=CA2336720852ATP1A3c.2457+21T= (n.2457+21T=)
c.2418+21T= (n.2418+21T=)
c.2451+21T= (n.2451+21T=)
c.2328+21T= (n.2328+21T=)
19g.41970367A>CCA2585368940ATP1A3c.2457+21T>G (n.2457+21T>G)
c.2418+21T>G (n.2418+21T>G)
c.2451+21T>G (n.2451+21T>G)
c.2328+21T>G (n.2328+21T>G)
gnomAD v4
19g.41970367A>GCA9467402ATP1A3c.2457+21T>C (n.2457+21T>C)
c.2418+21T>C (n.2418+21T>C)
c.2451+21T>C (n.2451+21T>C)
c.2328+21T>C (n.2328+21T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970367_41970368delinsAGCA2336720850ATP1A3c.2457+20_2457+21delinsCT (n.2457+20_2457+21delinsCT)
c.2418+20_2418+21delinsCT (n.2418+20_2418+21delinsCT)
c.2451+20_2451+21delinsCT (n.2451+20_2451+21delinsCT)
c.2328+20_2328+21delinsCT (n.2328+20_2328+21delinsCT)
19g.41970370delCA9467403ATP1A3c.2457+20del (n.2457+20del)
c.2418+20del (n.2418+20del)
c.2451+20del (n.2451+20del)
c.2328+20del (n.2328+20del)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970369G>ACA2585368941ATP1A3c.2457+19C>T (n.2457+19C>T)
c.2418+19C>T (n.2418+19C>T)
c.2451+19C>T (n.2451+19C>T)
c.2328+19C>T (n.2328+19C>T)
gnomAD v4
19g.41970369G=CA2336720854ATP1A3c.2457+19C= (n.2457+19C=)
c.2418+19C= (n.2418+19C=)
c.2451+19C= (n.2451+19C=)
c.2328+19C= (n.2328+19C=)
19g.41970369G>TCA2336720856ATP1A3c.2457+19C>A (n.2457+19C>A)
c.2418+19C>A (n.2418+19C>A)
c.2451+19C>A (n.2451+19C>A)
c.2328+19C>A (n.2328+19C>A)
ClinVar dbSNP gnomAD v4
19g.41970370G>ACA9467404ATP1A3c.2457+18C>T (n.2457+18C>T)
c.2418+18C>T (n.2418+18C>T)
c.2451+18C>T (n.2451+18C>T)
c.2328+18C>T (n.2328+18C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970370G=CA2336720857ATP1A3c.2457+18C= (n.2457+18C=)
c.2418+18C= (n.2418+18C=)
c.2451+18C= (n.2451+18C=)
c.2328+18C= (n.2328+18C=)
19g.41970372G>ACA2573156416ATP1A3c.2457+16C>T (n.2457+16C>T)
c.2418+16C>T (n.2418+16C>T)
c.2451+16C>T (n.2451+16C>T)
c.2328+16C>T (n.2328+16C>T)
ClinVar dbSNP gnomAD v4
19g.41970373G>ACA2585368942ATP1A3c.2457+15C>T (n.2457+15C>T)
c.2418+15C>T (n.2418+15C>T)
c.2451+15C>T (n.2451+15C>T)
c.2328+15C>T (n.2328+15C>T)
gnomAD v4
19g.41970374C=CA2336720859ATP1A3c.2457+14G= (n.2457+14G=)
c.2418+14G= (n.2418+14G=)
c.2451+14G= (n.2451+14G=)
c.2328+14G= (n.2328+14G=)
19g.41970374C>TCA2336720860ATP1A3c.2457+14G>A (n.2457+14G>A)
c.2418+14G>A (n.2418+14G>A)
c.2451+14G>A (n.2451+14G>A)
c.2328+14G>A (n.2328+14G>A)
dbSNP
19g.41970375T>ACA9467405ATP1A3c.2457+13A>T (n.2457+13A>T)
c.2418+13A>T (n.2418+13A>T)
c.2451+13A>T (n.2451+13A>T)
c.2328+13A>T (n.2328+13A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970375T>CCA2814441590ATP1A3c.2457+13A>G (n.2457+13A>G)
c.2418+13A>G (n.2418+13A>G)
c.2451+13A>G (n.2451+13A>G)
c.2328+13A>G (n.2328+13A>G)
19g.41970375T=CA2336720862ATP1A3c.2457+13A= (n.2457+13A=)
c.2418+13A= (n.2418+13A=)
c.2451+13A= (n.2451+13A=)
c.2328+13A= (n.2328+13A=)
19g.41970376G=CA2336720865ATP1A3c.2457+12C= (n.2457+12C=)
c.2418+12C= (n.2418+12C=)
c.2451+12C= (n.2451+12C=)
c.2328+12C= (n.2328+12C=)
19g.41970376G>TCA633471506ATP1A3c.2457+12C>A (n.2457+12C>A)
c.2418+12C>A (n.2418+12C>A)
c.2451+12C>A (n.2451+12C>A)
c.2328+12C>A (n.2328+12C>A)
dbSNP gnomAD v2 gnomAD v4
19g.41970378C>ACA9467406ATP1A3c.2457+10G>T (n.2457+10G>T)
c.2418+10G>T (n.2418+10G>T)
c.2451+10G>T (n.2451+10G>T)
c.2328+10G>T (n.2328+10G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970378C=CA2336720867ATP1A3c.2457+10G= (n.2457+10G=)
c.2418+10G= (n.2418+10G=)
c.2451+10G= (n.2451+10G=)
c.2328+10G= (n.2328+10G=)
19g.41970379A=CA2336720870ATP1A3c.2457+9T= (n.2457+9T=)
c.2418+9T= (n.2418+9T=)
c.2451+9T= (n.2451+9T=)
c.2328+9T= (n.2328+9T=)
19g.41970379A>CCA882382256ATP1A3c.2457+9T>G (n.2457+9T>G)
c.2418+9T>G (n.2418+9T>G)
c.2451+9T>G (n.2451+9T>G)
c.2328+9T>G (n.2328+9T>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41970379A>GCA2585368943ATP1A3c.2457+9T>C (n.2457+9T>C)
c.2418+9T>C (n.2418+9T>C)
c.2451+9T>C (n.2451+9T>C)
c.2328+9T>C (n.2328+9T>C)
gnomAD v4
19g.41970379A>TCA308586479ATP1A3c.2457+9T>A (n.2457+9T>A)
c.2418+9T>A (n.2418+9T>A)
c.2451+9T>A (n.2451+9T>A)
c.2328+9T>A (n.2328+9T>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970380G>ACA2576797079ATP1A3c.2457+8C>T (n.2457+8C>T)
c.2418+8C>T (n.2418+8C>T)
c.2451+8C>T (n.2451+8C>T)
c.2328+8C>T (n.2328+8C>T)
ClinVar gnomAD v4
19g.41970380G>TCA2585368944ATP1A3c.2457+8C>A (n.2457+8C>A)
c.2418+8C>A (n.2418+8C>A)
c.2451+8C>A (n.2451+8C>A)
c.2328+8C>A (n.2328+8C>A)
gnomAD v4
19g.41970381G>CCA2585368945ATP1A3c.2457+7C>G (n.2457+7C>G)
c.2418+7C>G (n.2418+7C>G)
c.2451+7C>G (n.2451+7C>G)
c.2328+7C>G (n.2328+7C>G)
gnomAD v4
19g.41970381G=CA2336720874ATP1A3c.2457+7C= (n.2457+7C=)
c.2418+7C= (n.2418+7C=)
c.2451+7C= (n.2451+7C=)
c.2328+7C= (n.2328+7C=)
19g.41970381G>TCA9467407ATP1A3c.2457+7C>A (n.2457+7C>A)
c.2418+7C>A (n.2418+7C>A)
c.2451+7C>A (n.2451+7C>A)
c.2328+7C>A (n.2328+7C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970382G>TCA2585368946ATP1A3c.2457+6C>A (n.2457+6C>A)
c.2418+6C>A (n.2418+6C>A)
c.2451+6C>A (n.2451+6C>A)
c.2328+6C>A (n.2328+6C>A)
gnomAD v4
19g.41970383C=CA2336720877ATP1A3c.2457+5G= (n.2457+5G=)
c.2418+5G= (n.2418+5G=)
c.2451+5G= (n.2451+5G=)
c.2328+5G= (n.2328+5G=)
19g.41970383C>TCA882382261ATP1A3c.2457+5G>A (n.2457+5G>A)
c.2418+5G>A (n.2418+5G>A)
c.2451+5G>A (n.2451+5G>A)
c.2328+5G>A (n.2328+5G>A)
dbSNP gnomAD v3 gnomAD v4
19g.41970385C=CA2336720880ATP1A3c.2457+3G= (n.2457+3G=)
c.2418+3G= (n.2418+3G=)
c.2451+3G= (n.2451+3G=)
c.2328+3G= (n.2328+3G=)
19g.41970385C>TCA9467408ATP1A3c.2457+3G>A (n.2457+3G>A)
c.2418+3G>A (n.2418+3G>A)
c.2451+3G>A (n.2451+3G>A)
c.2328+3G>A (n.2328+3G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970386A>CCA406039165ATP1A3c.2457+2T>G (n.2457+2T>G)
c.2418+2T>G (n.2418+2T>G)
c.2451+2T>G (n.2451+2T>G)
c.2328+2T>G (n.2328+2T>G)
19g.41970386A>GCA406039167ATP1A3c.2457+2T>C (n.2457+2T>C)
c.2418+2T>C (n.2418+2T>C)
c.2451+2T>C (n.2451+2T>C)
c.2328+2T>C (n.2328+2T>C)
19g.41970386A>TCA406039169ATP1A3c.2457+2T>A (n.2457+2T>A)
c.2418+2T>A (n.2418+2T>A)
c.2451+2T>A (n.2451+2T>A)
c.2328+2T>A (n.2328+2T>A)
19g.41970387C>ACA406039174ATP1A3c.2457+1G>T (n.2457+1G>T)
c.2418+1G>T (n.2418+1G>T)
c.2451+1G>T (n.2451+1G>T)
c.2328+1G>T (n.2328+1G>T)
19g.41970387C>GCA406039179ATP1A3c.2457+1G>C (n.2457+1G>C)
c.2418+1G>C (n.2418+1G>C)
c.2451+1G>C (n.2451+1G>C)
c.2328+1G>C (n.2328+1G>C)
19g.41970387C>TCA406039177ATP1A3c.2457+1G>A (n.2457+1G>A)
c.2418+1G>A (n.2418+1G>A)
c.2451+1G>A (n.2451+1G>A)
c.2328+1G>A (n.2328+1G>A)
gnomAD v4
19g.41970388C>ACA406039182ATP1A3c.2457G>T (p.Met819Ile)
c.2418G>T (p.Met806Ile)
c.2451G>T (p.Met817Ile)
c.2328G>T (p.Met776Ile)
19g.41970388C>GCA406039188ATP1A3c.2457G>C (p.Met819Ile)
c.2418G>C (p.Met806Ile)
c.2451G>C (p.Met817Ile)
c.2328G>C (p.Met776Ile)
19g.41970388C>TCA406039191ATP1A3c.2457G>A (p.Met819Ile)
c.2418G>A (p.Met806Ile)
c.2451G>A (p.Met817Ile)
c.2328G>A (p.Met776Ile)
19g.41970389A=CA2336720886ATP1A3c.2456T= (p.Met819=)
c.2417T= (p.Met806=)
c.2450T= (p.Met817=)
c.2327T= (p.Met776=)
19g.41970389A>CCA346027ATP1A3c.2456T>G (p.Met819Arg)
c.2417T>G (p.Met806Arg)
c.2450T>G (p.Met817Arg)
c.2327T>G (p.Met776Arg)
ClinVar dbSNP
19g.41970389A>GCA406039196ATP1A3c.2456T>C (p.Met819Thr)
c.2417T>C (p.Met806Thr)
c.2450T>C (p.Met817Thr)
c.2327T>C (p.Met776Thr)
19g.41970389A>TCA308586497ATP1A3c.2456T>A (p.Met819Lys)
c.2417T>A (p.Met806Lys)
c.2450T>A (p.Met817Lys)
c.2327T>A (p.Met776Lys)
dbSNP
19g.41970390T>ACA406039205ATP1A3c.2455A>T (p.Met819Leu)
c.2416A>T (p.Met806Leu)
c.2449A>T (p.Met817Leu)
c.2326A>T (p.Met776Leu)
19g.41970390T>CCA406039201ATP1A3c.2455A>G (p.Met819Val)
c.2416A>G (p.Met806Val)
c.2449A>G (p.Met817Val)
c.2326A>G (p.Met776Val)
gnomAD v4
19g.41970390T>GCA406039202ATP1A3c.2455A>C (p.Met819Leu)
c.2416A>C (p.Met806Leu)
c.2449A>C (p.Met817Leu)
c.2326A>C (p.Met776Leu)
19g.41970391G>ACA507694778ATP1A3c.2454C>T (p.Asp818=)
c.2415C>T (p.Asp805=)
c.2448C>T (p.Asp816=)
c.2325C>T (p.Asp775=)
dbSNP gnomAD v4
19g.41970391G>CCA346025ATP1A3c.2454C>G (p.Asp818Glu)
c.2415C>G (p.Asp805Glu)
c.2448C>G (p.Asp816Glu)
c.2325C>G (p.Asp775Glu)
ClinVar dbSNP
19g.41970391G=CA2336720892ATP1A3c.2454C= (p.Asp818=)
c.2415C= (p.Asp805=)
c.2448C= (p.Asp816=)
c.2325C= (p.Asp775=)
19g.41970391G>TCA406039211ATP1A3c.2454C>A (p.Asp818Glu)
c.2415C>A (p.Asp805Glu)
c.2448C>A (p.Asp816Glu)
c.2325C>A (p.Asp775Glu)
ClinVar dbSNP
19g.41970392T>ACA406039215ATP1A3c.2453A>T (p.Asp818Val)
c.2414A>T (p.Asp805Val)
c.2447A>T (p.Asp816Val)
c.2324A>T (p.Asp775Val)
19g.41970392T>CCA406039217ATP1A3c.2453A>G (p.Asp818Gly)
c.2414A>G (p.Asp805Gly)
c.2447A>G (p.Asp816Gly)
c.2324A>G (p.Asp775Gly)
19g.41970392T>GCA406039218ATP1A3c.2453A>C (p.Asp818Ala)
c.2414A>C (p.Asp805Ala)
c.2447A>C (p.Asp816Ala)
c.2324A>C (p.Asp775Ala)
19g.41970393C>ACA406039221ATP1A3c.2452G>T (p.Asp818Tyr)
c.2413G>T (p.Asp805Tyr)
c.2446G>T (p.Asp816Tyr)
c.2323G>T (p.Asp775Tyr)
19g.41970393C>GCA406039226ATP1A3c.2452G>C (p.Asp818His)
c.2413G>C (p.Asp805His)
c.2446G>C (p.Asp816His)
c.2323G>C (p.Asp775His)
19g.41970393C>TCA406039224ATP1A3c.2452G>A (p.Asp818Asn)
c.2413G>A (p.Asp805Asn)
c.2446G>A (p.Asp816Asn)
c.2323G>A (p.Asp775Asn)
19g.41970394A>CCA507694779ATP1A3c.2451T>G (p.Thr817=)
c.2412T>G (p.Thr804=)
c.2445T>G (p.Thr815=)
c.2322T>G (p.Thr774=)
19g.41970394A>GCA507694781ATP1A3c.2451T>C (p.Thr817=)
c.2412T>C (p.Thr804=)
c.2445T>C (p.Thr815=)
c.2322T>C (p.Thr774=)
19g.41970394A>TCA507694780ATP1A3c.2451T>A (p.Thr817=)
c.2412T>A (p.Thr804=)
c.2445T>A (p.Thr815=)
c.2322T>A (p.Thr774=)
19g.41970395G>ACA346023ATP1A3c.2450C>T (p.Thr817Ile)
c.2411C>T (p.Thr804Ile)
c.2444C>T (p.Thr815Ile)
c.2321C>T (p.Thr774Ile)
dbSNP
19g.41970395G>CCA406039232ATP1A3c.2450C>G (p.Thr817Ser)
c.2411C>G (p.Thr804Ser)
c.2444C>G (p.Thr815Ser)
c.2321C>G (p.Thr774Ser)
19g.41970395G=CA2336720896ATP1A3c.2450C= (p.Thr817=)
c.2411C= (p.Thr804=)
c.2444C= (p.Thr815=)
c.2321C= (p.Thr774=)
19g.41970395G>TCA406039235ATP1A3c.2450C>A (p.Thr817Asn)
c.2411C>A (p.Thr804Asn)
c.2444C>A (p.Thr815Asn)
c.2321C>A (p.Thr774Asn)
19g.41970396T>ACA406039240ATP1A3c.2449A>T (p.Thr817Ser)
c.2410A>T (p.Thr804Ser)
c.2443A>T (p.Thr815Ser)
c.2320A>T (p.Thr774Ser)
19g.41970396T>CCA406039241ATP1A3c.2449A>G (p.Thr817Ala)
c.2410A>G (p.Thr804Ala)
c.2443A>G (p.Thr815Ala)
c.2320A>G (p.Thr774Ala)
19g.41970396T>GCA406039244ATP1A3c.2449A>C (p.Thr817Pro)
c.2410A>C (p.Thr804Pro)
c.2443A>C (p.Thr815Pro)
c.2320A>C (p.Thr774Pro)
19g.41970397G>ACA9467409ATP1A3c.2448C>T (p.Gly816=)
c.2409C>T (p.Gly803=)
c.2442C>T (p.Gly814=)
c.2319C>T (p.Gly773=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970397G>CCA507694782ATP1A3c.2448C>G (p.Gly816=)
c.2409C>G (p.Gly803=)
c.2442C>G (p.Gly814=)
c.2319C>G (p.Gly773=)
19g.41970397G=CA2336720899ATP1A3c.2448C= (p.Gly816=)
c.2409C= (p.Gly803=)
c.2442C= (p.Gly814=)
c.2319C= (p.Gly773=)
19g.41970397G>TCA507694783ATP1A3c.2448C>A (p.Gly816=)
c.2409C>A (p.Gly803=)
c.2442C>A (p.Gly814=)
c.2319C>A (p.Gly773=)
19g.41970398C>ACA406039249ATP1A3c.2447G>T (p.Gly816Val)
c.2408G>T (p.Gly803Val)
c.2441G>T (p.Gly814Val)
c.2318G>T (p.Gly773Val)
19g.41970398C=CA2336720902ATP1A3c.2447G= (p.Gly816=)
c.2408G= (p.Gly803=)
c.2441G= (p.Gly814=)
c.2318G= (p.Gly773=)
19g.41970398C>GCA406039250ATP1A3c.2447G>C (p.Gly816Ala)
c.2408G>C (p.Gly803Ala)
c.2441G>C (p.Gly814Ala)
c.2318G>C (p.Gly773Ala)
19g.41970398C>TCA406039252ATP1A3c.2447G>A (p.Gly816Asp)
c.2408G>A (p.Gly803Asp)
c.2441G>A (p.Gly814Asp)
c.2318G>A (p.Gly773Asp)
ClinVar dbSNP COSMIC
19g.41970399C>ACA406039256ATP1A3c.2446G>T (p.Gly816Cys)
c.2407G>T (p.Gly803Cys)
c.2440G>T (p.Gly814Cys)
c.2317G>T (p.Gly773Cys)
19g.41970399C=CA2336720909ATP1A3c.2446G= (p.Gly816=)
c.2407G= (p.Gly803=)
c.2440G= (p.Gly814=)
c.2317G= (p.Gly773=)
19g.41970399C>GCA406039255ATP1A3c.2446G>C (p.Gly816Arg)
c.2407G>C (p.Gly803Arg)
c.2440G>C (p.Gly814Arg)
c.2317G>C (p.Gly773Arg)
ClinVar dbSNP
19g.41970399C>TCA406039254ATP1A3c.2446G>A (p.Gly816Ser)
c.2407G>A (p.Gly803Ser)
c.2440G>A (p.Gly814Ser)
c.2317G>A (p.Gly773Ser)
ClinVar dbSNP COSMIC
19g.41970400C>ACA507694784ATP1A3c.2445G>T (p.Leu815=)
c.2406G>T (p.Leu802=)
c.2439G>T (p.Leu813=)
c.2316G>T (p.Leu772=)
19g.41970400C=CA2336720912ATP1A3c.2445G= (p.Leu815=)
c.2406G= (p.Leu802=)
c.2439G= (p.Leu813=)
c.2316G= (p.Leu772=)
19g.41970400C>GCA507694786ATP1A3c.2445G>C (p.Leu815=)
c.2406G>C (p.Leu802=)
c.2439G>C (p.Leu813=)
c.2316G>C (p.Leu772=)
19g.41970400C>TCA507694787ATP1A3c.2445G>A (p.Leu815=)
c.2406G>A (p.Leu802=)
c.2439G>A (p.Leu813=)
c.2316G>A (p.Leu772=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41970401A>CCA406039257ATP1A3c.2444T>G (p.Leu815Arg)
c.2405T>G (p.Leu802Arg)
c.2438T>G (p.Leu813Arg)
c.2315T>G (p.Leu772Arg)
19g.41970401A>GCA406039261ATP1A3c.2444T>C (p.Leu815Pro)
c.2405T>C (p.Leu802Pro)
c.2438T>C (p.Leu813Pro)
c.2315T>C (p.Leu772Pro)
19g.41970401A>TCA406039258ATP1A3c.2444T>A (p.Leu815Gln)
c.2405T>A (p.Leu802Gln)
c.2438T>A (p.Leu813Gln)
c.2315T>A (p.Leu772Gln)
19g.41970402G>ACA507694788ATP1A3c.2443C>T (p.Leu815=)
c.2404C>T (p.Leu802=)
c.2437C>T (p.Leu813=)
c.2314C>T (p.Leu772=)
19g.41970402G>CCA406039272ATP1A3c.2443C>G (p.Leu815Val)
c.2404C>G (p.Leu802Val)
c.2437C>G (p.Leu813Val)
c.2314C>G (p.Leu772Val)
19g.41970402G>TCA406039274ATP1A3c.2443C>A (p.Leu815Met)
c.2404C>A (p.Leu802Met)
c.2437C>A (p.Leu813Met)
c.2314C>A (p.Leu772Met)
19g.41970403A=CA2336720913ATP1A3c.2442T= (p.Asp814=)
c.2403T= (p.Asp801=)
c.2436T= (p.Asp812=)
c.2313T= (p.Asp771=)
19g.41970403A>CCA406039276ATP1A3c.2442T>G (p.Asp814Glu)
c.2403T>G (p.Asp801Glu)
c.2436T>G (p.Asp812Glu)
c.2313T>G (p.Asp771Glu)
19g.41970403A>GCA507694789ATP1A3c.2442T>C (p.Asp814=)
c.2403T>C (p.Asp801=)
c.2436T>C (p.Asp812=)
c.2313T>C (p.Asp771=)
dbSNP
19g.41970403A>TCA406039278ATP1A3c.2442T>A (p.Asp814Glu)
c.2403T>A (p.Asp801Glu)
c.2436T>A (p.Asp812Glu)
c.2313T>A (p.Asp771Glu)
ClinVar dbSNP
19g.41970404T>ACA406039282ATP1A3c.2441A>T (p.Asp814Val)
c.2402A>T (p.Asp801Val)
c.2435A>T (p.Asp812Val)
c.2312A>T (p.Asp771Val)
19g.41970404T>CCA406039285ATP1A3c.2441A>G (p.Asp814Gly)
c.2402A>G (p.Asp801Gly)
c.2435A>G (p.Asp812Gly)
c.2312A>G (p.Asp771Gly)
19g.41970404T>GCA406039286ATP1A3c.2441A>C (p.Asp814Ala)
c.2402A>C (p.Asp801Ala)
c.2435A>C (p.Asp812Ala)
c.2312A>C (p.Asp771Ala)
19g.41970405C>ACA341238ATP1A3c.2440G>T (p.Asp814Tyr)
c.2401G>T (p.Asp801Tyr)
c.2434G>T (p.Asp812Tyr)
c.2311G>T (p.Asp771Tyr)
ClinVar dbSNP
19g.41970405C=CA2336720927ATP1A3c.2440G= (p.Asp814=)
c.2401G= (p.Asp801=)
c.2434G= (p.Asp812=)
c.2311G= (p.Asp771=)
19g.41970405C>GCA207845ATP1A3c.2440G>C (p.Asp814His)
c.2401G>C (p.Asp801His)
c.2434G>C (p.Asp812His)
c.2311G>C (p.Asp771His)
ClinVar dbSNP
19g.41970405C>TCA342902ATP1A3c.2440G>A (p.Asp814Asn)
c.2401G>A (p.Asp801Asn)
c.2434G>A (p.Asp812Asn)
c.2311G>A (p.Asp771Asn)
ClinVar dbSNP COSMIC
19g.41970406G>ACA9467410ATP1A3c.2439C>T (p.Ile813=)
c.2400C>T (p.Ile800=)
c.2433C>T (p.Ile811=)
c.2310C>T (p.Ile770=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41970406G>CCA406039295ATP1A3c.2439C>G (p.Ile813Met)
c.2400C>G (p.Ile800Met)
c.2433C>G (p.Ile811Met)
c.2310C>G (p.Ile770Met)
19g.41970406G=CA2336720929ATP1A3c.2439C= (p.Ile813=)
c.2400C= (p.Ile800=)
c.2433C= (p.Ile811=)
c.2310C= (p.Ile770=)
19g.41970406G>TCA507694790ATP1A3c.2439C>A (p.Ile813=)
c.2400C>A (p.Ile800=)
c.2433C>A (p.Ile811=)
c.2310C>A (p.Ile770=)
19g.41970407A>CCA406039298ATP1A3c.2438T>G (p.Ile813Ser)
c.2399T>G (p.Ile800Ser)
c.2432T>G (p.Ile811Ser)
c.2309T>G (p.Ile770Ser)
19g.41970407A>GCA406039301ATP1A3c.2438T>C (p.Ile813Thr)
c.2399T>C (p.Ile800Thr)
c.2432T>C (p.Ile811Thr)
c.2309T>C (p.Ile770Thr)
19g.41970407A>TCA406039303ATP1A3c.2438T>A (p.Ile813Asn)
c.2399T>A (p.Ile800Asn)
c.2432T>A (p.Ile811Asn)
c.2309T>A (p.Ile770Asn)
19g.41970408T>ACA406039308ATP1A3c.2437A>T (p.Ile813Phe)
c.2398A>T (p.Ile800Phe)
c.2431A>T (p.Ile811Phe)
c.2308A>T (p.Ile770Phe)
19g.41970408T>CCA406039311ATP1A3c.2437A>G (p.Ile813Val)
c.2398A>G (p.Ile800Val)
c.2431A>G (p.Ile811Val)
c.2308A>G (p.Ile770Val)
19g.41970408T>GCA406039309ATP1A3c.2437A>C (p.Ile813Leu)
c.2398A>C (p.Ile800Leu)
c.2431A>C (p.Ile811Leu)
c.2308A>C (p.Ile770Leu)
19g.41970409G>ACA507694791ATP1A3c.2436C>T (p.Cys812=)
c.2397C>T (p.Cys799=)
c.2430C>T (p.Cys810=)
c.2307C>T (p.Cys769=)
19g.41970409G>CCA406039313ATP1A3c.2436C>G (p.Cys812Trp)
c.2397C>G (p.Cys799Trp)
c.2430C>G (p.Cys810Trp)
c.2307C>G (p.Cys769Trp)
19g.41970409G>TCA406039315ATP1A3c.2436C>A (p.Cys812Ter)
c.2397C>A (p.Cys799Ter)
c.2430C>A (p.Cys810Ter)
c.2307C>A (p.Cys769Ter)
19g.41970410C>ACA406039318ATP1A3c.2435G>T (p.Cys812Phe)
c.2396G>T (p.Cys799Phe)
c.2429G>T (p.Cys810Phe)
c.2306G>T (p.Cys769Phe)
dbSNP gnomAD v2 gnomAD v4
19g.41970410C=CA2336720933ATP1A3c.2435G= (p.Cys812=)
c.2396G= (p.Cys799=)
c.2429G= (p.Cys810=)
c.2306G= (p.Cys769=)
19g.41970410C>GCA406039321ATP1A3c.2435G>C (p.Cys812Ser)
c.2396G>C (p.Cys799Ser)
c.2429G>C (p.Cys810Ser)
c.2306G>C (p.Cys769Ser)
19g.41970410C>TCA406039323ATP1A3c.2435G>A (p.Cys812Tyr)
c.2396G>A (p.Cys799Tyr)
c.2429G>A (p.Cys810Tyr)
c.2306G>A (p.Cys769Tyr)
dbSNP
19g.41970411A>CCA406039327ATP1A3c.2434T>G (p.Cys812Gly)
c.2395T>G (p.Cys799Gly)
c.2428T>G (p.Cys810Gly)
c.2305T>G (p.Cys769Gly)
19g.41970411A>GCA406039329ATP1A3c.2434T>C (p.Cys812Arg)
c.2395T>C (p.Cys799Arg)
c.2428T>C (p.Cys810Arg)
c.2305T>C (p.Cys769Arg)
ClinVar
19g.41970411A>TCA406039331ATP1A3c.2434T>A (p.Cys812Ser)
c.2395T>A (p.Cys799Ser)
c.2428T>A (p.Cys810Ser)
c.2305T>A (p.Cys769Ser)
19g.41970412G>ACA507694792ATP1A3c.2433C>T (p.Leu811=)
c.2394C>T (p.Leu798=)
c.2427C>T (p.Leu809=)
c.2304C>T (p.Leu768=)
19g.41970412G>CCA507694793ATP1A3c.2433C>G (p.Leu811=)
c.2394C>G (p.Leu798=)
c.2427C>G (p.Leu809=)
c.2304C>G (p.Leu768=)
19g.41970412G>TCA507694794ATP1A3c.2433C>A (p.Leu811=)
c.2394C>A (p.Leu798=)
c.2427C>A (p.Leu809=)
c.2304C>A (p.Leu768=)
19g.41970413A=CA2336720938ATP1A3c.2432T= (p.Leu811=)
c.2393T= (p.Leu798=)
c.2426T= (p.Leu809=)
c.2303T= (p.Leu768=)
19g.41970413A>CCA406039334ATP1A3c.2432T>G (p.Leu811Arg)
c.2393T>G (p.Leu798Arg)
c.2426T>G (p.Leu809Arg)
c.2303T>G (p.Leu768Arg)
19g.41970413A>GCA406039337ATP1A3c.2432T>C (p.Leu811Pro)
c.2393T>C (p.Leu798Pro)
c.2426T>C (p.Leu809Pro)
c.2303T>C (p.Leu768Pro)
ClinVar dbSNP
19g.41970413A>TCA406039340ATP1A3c.2432T>A (p.Leu811His)
c.2393T>A (p.Leu798His)
c.2426T>A (p.Leu809His)
c.2303T>A (p.Leu768His)
19g.41970414G>ACA406039343ATP1A3c.2431C>T (p.Leu811Phe)
c.2392C>T (p.Leu798Phe)
c.2425C>T (p.Leu809Phe)
c.2302C>T (p.Leu768Phe)
COSMIC
19g.41970414G>CCA406039350ATP1A3c.2431C>G (p.Leu811Val)
c.2392C>G (p.Leu798Val)
c.2425C>G (p.Leu809Val)
c.2302C>G (p.Leu768Val)
19g.41970414G>TCA406039345ATP1A3c.2431C>A (p.Leu811Ile)
c.2392C>A (p.Leu798Ile)
c.2425C>A (p.Leu809Ile)
c.2302C>A (p.Leu768Ile)
19g.41970415G>ACA507694796ATP1A3c.2430C>T (p.Ile810=)
c.2391C>T (p.Ile797=)
c.2424C>T (p.Ile808=)
c.2301C>T (p.Ile767=)
19g.41970415G>CCA406039352ATP1A3c.2430C>G (p.Ile810Met)
c.2391C>G (p.Ile797Met)
c.2424C>G (p.Ile808Met)
c.2301C>G (p.Ile767Met)
19g.41970415G>TCA507694795ATP1A3c.2430C>A (p.Ile810=)
c.2391C>A (p.Ile797=)
c.2424C>A (p.Ile808=)
c.2301C>A (p.Ile767=)
19g.41970416A>CCA406039354ATP1A3c.2429T>G (p.Ile810Ser)
c.2390T>G (p.Ile797Ser)
c.2423T>G (p.Ile808Ser)
c.2300T>G (p.Ile767Ser)
19g.41970416A>GCA406039357ATP1A3c.2429T>C (p.Ile810Thr)
c.2390T>C (p.Ile797Thr)
c.2423T>C (p.Ile808Thr)
c.2300T>C (p.Ile767Thr)
19g.41970416A>TCA406039360ATP1A3c.2429T>A (p.Ile810Asn)
c.2390T>A (p.Ile797Asn)
c.2423T>A (p.Ile808Asn)
c.2300T>A (p.Ile767Asn)
19g.41970417T>ACA406039363ATP1A3c.2428A>T (p.Ile810Phe)
c.2389A>T (p.Ile797Phe)
c.2422A>T (p.Ile808Phe)
c.2299A>T (p.Ile767Phe)
19g.41970417T>CCA406039364ATP1A3c.2428A>G (p.Ile810Val)
c.2389A>G (p.Ile797Val)
c.2422A>G (p.Ile808Val)
c.2299A>G (p.Ile767Val)
19g.41970417T>GCA406039365ATP1A3c.2428A>C (p.Ile810Leu)
c.2389A>C (p.Ile797Leu)
c.2422A>C (p.Ile808Leu)
c.2299A>C (p.Ile767Leu)
19g.41970418G>ACA507694797ATP1A3c.2427C>T (p.Thr809=)
c.2388C>T (p.Thr796=)
c.2421C>T (p.Thr807=)
c.2298C>T (p.Thr766=)
19g.41970418G>CCA507694798ATP1A3c.2427C>G (p.Thr809=)
c.2388C>G (p.Thr796=)
c.2421C>G (p.Thr807=)
c.2298C>G (p.Thr766=)
19g.41970418G>TCA507694799ATP1A3c.2427C>A (p.Thr809=)
c.2388C>A (p.Thr796=)
c.2421C>A (p.Thr807=)
c.2298C>A (p.Thr766=)
19g.41970419G>ACA406039367ATP1A3c.2426C>T (p.Thr809Ile)
c.2387C>T (p.Thr796Ile)
c.2420C>T (p.Thr807Ile)
c.2297C>T (p.Thr766Ile)
19g.41970419G>CCA406039369ATP1A3c.2426C>G (p.Thr809Ser)
c.2387C>G (p.Thr796Ser)
c.2420C>G (p.Thr807Ser)
c.2297C>G (p.Thr766Ser)
19g.41970419G>TCA406039370ATP1A3c.2426C>A (p.Thr809Asn)
c.2387C>A (p.Thr796Asn)
c.2420C>A (p.Thr807Asn)
c.2297C>A (p.Thr766Asn)
19g.41970420T>ACA406039372ATP1A3c.2425A>T (p.Thr809Ser)
c.2386A>T (p.Thr796Ser)
c.2419A>T (p.Thr807Ser)
c.2296A>T (p.Thr766Ser)
19g.41970420T>CCA406039374ATP1A3c.2425A>G (p.Thr809Ala)
c.2386A>G (p.Thr796Ala)
c.2419A>G (p.Thr807Ala)
c.2296A>G (p.Thr766Ala)
19g.41970420T>GCA406039375ATP1A3c.2425A>C (p.Thr809Pro)
c.2386A>C (p.Thr796Pro)
c.2419A>C (p.Thr807Pro)
c.2296A>C (p.Thr766Pro)
dbSNP
19g.41970420T=CA2336720941ATP1A3c.2425A= (p.Thr809=)
c.2386A= (p.Thr796=)
c.2419A= (p.Thr807=)
c.2296A= (p.Thr766=)
19g.41970421G>ACA507694801ATP1A3c.2424C>T (p.Ile808=)
c.2385C>T (p.Ile795=)
c.2418C>T (p.Ile806=)
c.2295C>T (p.Ile765=)
19g.41970421G>CCA406039376ATP1A3c.2424C>G (p.Ile808Met)
c.2385C>G (p.Ile795Met)
c.2418C>G (p.Ile806Met)
c.2295C>G (p.Ile765Met)
19g.41970421G>TCA507694800ATP1A3c.2424C>A (p.Ile808=)
c.2385C>A (p.Ile795=)
c.2418C>A (p.Ile806=)
c.2295C>A (p.Ile765=)
19g.41970422A>CCA406039377ATP1A3c.2423T>G (p.Ile808Ser)
c.2384T>G (p.Ile795Ser)
c.2417T>G (p.Ile806Ser)
c.2294T>G (p.Ile765Ser)
19g.41970422A>GCA406039379ATP1A3c.2423T>C (p.Ile808Thr)
c.2384T>C (p.Ile795Thr)
c.2417T>C (p.Ile806Thr)
c.2294T>C (p.Ile765Thr)
19g.41970422A>TCA406039381ATP1A3c.2423T>A (p.Ile808Asn)
c.2384T>A (p.Ile795Asn)
c.2417T>A (p.Ile806Asn)
c.2294T>A (p.Ile765Asn)
19g.41970423T>ACA406039382ATP1A3c.2422A>T (p.Ile808Phe)
c.2383A>T (p.Ile795Phe)
c.2416A>T (p.Ile806Phe)
c.2293A>T (p.Ile765Phe)
dbSNP
19g.41970423T>CCA406039383ATP1A3c.2422A>G (p.Ile808Val)
c.2383A>G (p.Ile795Val)
c.2416A>G (p.Ile806Val)
c.2293A>G (p.Ile765Val)
19g.41970423T>GCA406039385ATP1A3c.2422A>C (p.Ile808Leu)
c.2383A>C (p.Ile795Leu)
c.2416A>C (p.Ile806Leu)
c.2293A>C (p.Ile765Leu)
19g.41970423T=CA2336720942ATP1A3c.2422A= (p.Ile808=)
c.2383A= (p.Ile795=)
c.2416A= (p.Ile806=)
c.2293A= (p.Ile765=)
19g.41970424G>ACA507694802ATP1A3c.2421C>T (p.Thr807=)
c.2382C>T (p.Thr794=)
c.2415C>T (p.Thr805=)
c.2292C>T (p.Thr764=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41970424G>CCA507694803ATP1A3c.2421C>G (p.Thr807=)
c.2382C>G (p.Thr794=)
c.2415C>G (p.Thr805=)
c.2292C>G (p.Thr764=)
19g.41970424G=CA2336720943ATP1A3c.2421C= (p.Thr807=)
c.2382C= (p.Thr794=)
c.2415C= (p.Thr805=)
c.2292C= (p.Thr764=)
19g.41970424G>TCA507694804ATP1A3c.2421C>A (p.Thr807=)
c.2382C>A (p.Thr794=)
c.2415C>A (p.Thr805=)
c.2292C>A (p.Thr764=)
dbSNP
19g.41970425G>ACA406039387ATP1A3c.2420C>T (p.Thr807Ile)
c.2381C>T (p.Thr794Ile)
c.2414C>T (p.Thr805Ile)
c.2291C>T (p.Thr764Ile)
19g.41970425G>CCA406039389ATP1A3c.2420C>G (p.Thr807Ser)
c.2381C>G (p.Thr794Ser)
c.2414C>G (p.Thr805Ser)
c.2291C>G (p.Thr764Ser)
19g.41970425G>TCA406039390ATP1A3c.2420C>A (p.Thr807Asn)
c.2381C>A (p.Thr794Asn)
c.2414C>A (p.Thr805Asn)
c.2291C>A (p.Thr764Asn)
19g.41970426T>ACA406039392ATP1A3c.2419A>T (p.Thr807Ser)
c.2380A>T (p.Thr794Ser)
c.2413A>T (p.Thr805Ser)
c.2290A>T (p.Thr764Ser)
19g.41970426T>CCA406039394ATP1A3c.2419A>G (p.Thr807Ala)
c.2380A>G (p.Thr794Ala)
c.2413A>G (p.Thr805Ala)
c.2290A>G (p.Thr764Ala)
19g.41970426T>GCA406039395ATP1A3c.2419A>C (p.Thr807Pro)
c.2380A>C (p.Thr794Pro)
c.2413A>C (p.Thr805Pro)
c.2290A>C (p.Thr764Pro)

Number of alleles fetched