Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28902939_28902964delinsCCCTCCCCTGAGGCCACTGCCCACATCA2215888736ATP2A1c.2744+28_2744+53delinsCCCTCCCCTGAGGCCACTGCCCACAT (n.2744+28_2744+53delinsCCCTCCCCTGAGGCCACTGCCCACAT)
c.2369+28_2369+53delinsCCCTCCCCTGAGGCCACTGCCCACAT (n.2369+28_2369+53delinsCCCTCCCCTGAGGCCACTGCCCACAT)
16g.28902945_28902969delCA7987375ATP2A1c.2744+34_2744+58del (n.2744+34_2744+58del)
c.2369+34_2369+58del (n.2369+34_2369+58del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28902959C>TCA2632541333ATP2A1c.2744+48C>T (n.2744+48C>T)
c.2369+48C>T (n.2369+48C>T)
 gnomAD v4
16g.28902960C=CA2215888799ATP2A1c.2744+49C= (n.2744+49C=)
c.2369+49C= (n.2369+49C=)
16g.28902960C>TCA7987386ATP2A1c.2744+49C>T (n.2744+49C>T)
c.2369+49C>T (n.2369+49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28902962C=CA2215888802ATP2A1c.2744+51C= (n.2744+51C=)
c.2369+51C= (n.2369+51C=)
16g.28902962C>TCA7987387ATP2A1c.2744+51C>T (n.2744+51C>T)
c.2369+51C>T (n.2369+51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28902963A=CA2215888805ATP2A1c.2744+52A= (n.2744+52A=)
c.2369+52A= (n.2369+52A=)
16g.28902963A>GCA7987388ATP2A1c.2744+52A>G (n.2744+52A>G)
c.2369+52A>G (n.2369+52A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28902964delCA2632541334ATP2A1c.2744+53del (n.2744+53del)
c.2369+53del (n.2369+53del)
 gnomAD v4
16g.28902964T>CCA2632541335ATP2A1c.2744+53T>C (n.2744+53T>C)
c.2369+53T>C (n.2369+53T>C)
 gnomAD v4
16g.28902965C=CA2215888808ATP2A1c.2744+54C= (n.2744+54C=)
c.2369+54C= (n.2369+54C=)
16g.28902965C>TCA279244640ATP2A1c.2744+54C>T (n.2744+54C>T)
c.2369+54C>T (n.2369+54C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28902966C=CA2215888812ATP2A1c.2744+55C= (n.2744+55C=)
c.2369+55C= (n.2369+55C=)
16g.28902966C>TCA279244651ATP2A1c.2744+55C>T (n.2744+55C>T)
c.2369+55C>T (n.2369+55C>T)
 dbSNP gnomAD v4
16g.28902968C>TCA2806424100ATP2A1c.2744+57C>T (n.2744+57C>T)
c.2369+57C>T (n.2369+57C>T)
16g.28902969delCA2575960594ATP2A1c.2744+58del (n.2744+58del)
c.2369+58del (n.2369+58del)
16g.28902969C=CA2215888814ATP2A1c.2744+58C= (n.2744+58C=)
c.2369+58C= (n.2369+58C=)
16g.28902969C>TCA976150871ATP2A1c.2744+58C>T (n.2744+58C>T)
c.2369+58C>T (n.2369+58C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.28902978_28903004delCA2575960595ATP2A1c.2745-52_2745-26del (n.2745-52_2745-26del)
c.2370-52_2370-26del (n.2370-52_2370-26del)
16g.28902972T>CCA2632541337ATP2A1c.2745-58T>C (n.2745-58T>C)
c.2370-58T>C (n.2370-58T>C)
 gnomAD v4
16g.28902973G>ACA622162575ATP2A1c.2745-57G>A (n.2745-57G>A)
c.2370-57G>A (n.2370-57G>A)
 gnomAD v2 gnomAD v4
16g.28902976C=CA2215888816ATP2A1c.2745-54C= (n.2745-54C=)
c.2370-54C= (n.2370-54C=)
16g.28902976C>TCA622162576ATP2A1c.2745-54C>T (n.2745-54C>T)
c.2370-54C>T (n.2370-54C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28902977C=CA2215888819ATP2A1c.2745-53C= (n.2745-53C=)
c.2370-53C= (n.2370-53C=)
16g.28902977C>TCA279244666ATP2A1c.2745-53C>T (n.2745-53C>T)
c.2370-53C>T (n.2370-53C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28902978G>ACA279244675ATP2A1c.2745-52G>A (n.2745-52G>A)
c.2370-52G>A (n.2370-52G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.28902978G=CA2215888820ATP2A1c.2745-52G= (n.2745-52G=)
c.2370-52G= (n.2370-52G=)
16g.28902981C>TCA2732138096ATP2A1c.2745-49C>T (n.2745-49C>T)
c.2370-49C>T (n.2370-49C>T)
 dbSNP
16g.28902982A=CA2215888827ATP2A1c.2745-48A= (n.2745-48A=)
c.2370-48A= (n.2370-48A=)
16g.28902982A>CCA976150884ATP2A1c.2745-48A>C (n.2745-48A>C)
c.2370-48A>C (n.2370-48A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28902982_28902985delinsACCTCA2215888822ATP2A1c.2745-48_2745-45delinsACCT (n.2745-48_2745-45delinsACCT)
c.2370-48_2370-45delinsACCT (n.2370-48_2370-45delinsACCT)
16g.28902986_28902988delCA622162577ATP2A1c.2745-44_2745-42del (n.2745-44_2745-42del)
c.2370-44_2370-42del (n.2370-44_2370-42del)
 dbSNP gnomAD v2
16g.28902986_28903005delCA2632541338ATP2A1c.2745-44_2745-25del (n.2745-44_2745-25del)
c.2370-44_2370-25del (n.2370-44_2370-25del)
 gnomAD v4
16g.28902984C=CA2215888848ATP2A1c.2745-46C= (n.2745-46C=)
c.2370-46C= (n.2370-46C=)
16g.28902984C>GCA2215888851ATP2A1c.2745-46C>G (n.2745-46C>G)
c.2370-46C>G (n.2370-46C>G)
 dbSNP
16g.28902984C>TCA7987389ATP2A1c.2745-46C>T (n.2745-46C>T)
c.2370-46C>T (n.2370-46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28902989_28902992delCA2575960596ATP2A1c.2745-41_2745-38del (n.2745-41_2745-38del)
c.2370-41_2370-38del (n.2370-41_2370-38del)
16g.28902986C=CA2215888873ATP2A1c.2745-44C= (n.2745-44C=)
c.2370-44C= (n.2370-44C=)
16g.28902986C>GCA2215888877ATP2A1c.2745-44C>G (n.2745-44C>G)
c.2370-44C>G (n.2370-44C>G)
 dbSNP
16g.28902986C>TCA622162578ATP2A1c.2745-44C>T (n.2745-44C>T)
c.2370-44C>T (n.2370-44C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28902988T>CCA2632541339ATP2A1c.2745-42T>C (n.2745-42T>C)
c.2370-42T>C (n.2370-42T>C)
 gnomAD v4
16g.28902990C=CA2215888880ATP2A1c.2745-40C= (n.2745-40C=)
c.2370-40C= (n.2370-40C=)
16g.28902990C>TCA976150893ATP2A1c.2745-40C>T (n.2745-40C>T)
c.2370-40C>T (n.2370-40C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.28902991C=CA2215888884ATP2A1c.2745-39C= (n.2745-39C=)
c.2370-39C= (n.2370-39C=)
16g.28902991C>TCA622162579ATP2A1c.2745-39C>T (n.2745-39C>T)
c.2370-39C>T (n.2370-39C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28902992T=CA2215888887ATP2A1c.2745-38T= (n.2745-38T=)
c.2370-38T= (n.2370-38T=)
16g.28902993C=CA2215888891ATP2A1c.2745-37C= (n.2745-37C=)
c.2370-37C= (n.2370-37C=)
16g.28902993C>GCA2215888894ATP2A1c.2745-37C>G (n.2745-37C>G)
c.2370-37C>G (n.2370-37C>G)
 dbSNP gnomAD v4
16g.28902997_28902998insGTGTGCCTTCTCCCTCCCCCTCACA7987390ATP2A1c.2745-33_2745-32insGTGTGCCTTCTCCCTCCCCCTCA (n.2745-33_2745-32insGTGTGCCTTCTCCCTCCCCCTCA)
c.2370-33_2370-32insGTGTGCCTTCTCCCTCCCCCTCA (n.2370-33_2370-32insGTGTGCCTTCTCCCTCCCCCTCA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28902996C=CA2215888896ATP2A1c.2745-34C= (n.2745-34C=)
c.2370-34C= (n.2370-34C=)
16g.28902996C>TCA622162580ATP2A1c.2745-34C>T (n.2745-34C>T)
c.2370-34C>T (n.2370-34C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28902997A=CA2215888916ATP2A1c.2745-33A= (n.2745-33A=)
c.2370-33A= (n.2370-33A=)
16g.28902997A>CCA976150898ATP2A1c.2745-33A>C (n.2745-33A>C)
c.2370-33A>C (n.2370-33A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.28902997A>GCA2632541340ATP2A1c.2745-33A>G (n.2745-33A>G)
c.2370-33A>G (n.2370-33A>G)
 gnomAD v4
16g.28902998C=CA2215888917ATP2A1c.2745-32C= (n.2745-32C=)
c.2370-32C= (n.2370-32C=)
16g.28902998C>GCA976150915ATP2A1c.2745-32C>G (n.2745-32C>G)
c.2370-32C>G (n.2370-32C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28902999T>CCA622162581ATP2A1c.2745-31T>C (n.2745-31T>C)
c.2370-31T>C (n.2370-31T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.28902999T>GCA976150918ATP2A1c.2745-31T>G (n.2745-31T>G)
c.2370-31T>G (n.2370-31T>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28902999T=CA2215888918ATP2A1c.2745-31T= (n.2745-31T=)
c.2370-31T= (n.2370-31T=)
16g.28903001_28903002delCA2632541341ATP2A1c.2745-29_2745-28del (n.2745-29_2745-28del)
c.2370-29_2370-28del (n.2370-29_2370-28del)
 gnomAD v4
16g.28903000G>ACA2632541342ATP2A1c.2745-30G>A (n.2745-30G>A)
c.2370-30G>A (n.2370-30G>A)
 gnomAD v4
16g.28903003C>ACA2632541343ATP2A1c.2745-27C>A (n.2745-27C>A)
c.2370-27C>A (n.2370-27C>A)
 gnomAD v4
16g.28903003C>GCA2632541344ATP2A1c.2745-27C>G (n.2745-27C>G)
c.2370-27C>G (n.2370-27C>G)
 gnomAD v4
16g.28903004C=CA2215888919ATP2A1c.2745-26C= (n.2745-26C=)
c.2370-26C= (n.2370-26C=)
16g.28903004C>GCA2632541345ATP2A1c.2745-26C>G (n.2745-26C>G)
c.2370-26C>G (n.2370-26C>G)
 gnomAD v4
16g.28903004C>TCA976150921ATP2A1c.2745-26C>T (n.2745-26C>T)
c.2370-26C>T (n.2370-26C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.28903005T>GCA622162582ATP2A1c.2745-25T>G (n.2745-25T>G)
c.2370-25T>G (n.2370-25T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28903005T=CA2215888920ATP2A1c.2745-25T= (n.2745-25T=)
c.2370-25T= (n.2370-25T=)
16g.28903007C=CA2215888921ATP2A1c.2745-23C= (n.2745-23C=)
c.2370-23C= (n.2370-23C=)
16g.28903007C>GCA2632541346ATP2A1c.2745-23C>G (n.2745-23C>G)
c.2370-23C>G (n.2370-23C>G)
 gnomAD v4
16g.28903007C>TCA622162583ATP2A1c.2745-23C>T (n.2745-23C>T)
c.2370-23C>T (n.2370-23C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28903009C=CA2215888922ATP2A1c.2745-21C= (n.2745-21C=)
c.2370-21C= (n.2370-21C=)
16g.28903009C>GCA976150925ATP2A1c.2745-21C>G (n.2745-21C>G)
c.2370-21C>G (n.2370-21C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.28903009C>TCA7987391ATP2A1c.2745-21C>T (n.2745-21C>T)
c.2370-21C>T (n.2370-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28903010C=CA2215888923ATP2A1c.2745-20C= (n.2745-20C=)
c.2370-20C= (n.2370-20C=)
16g.28903010C>TCA2632541347ATP2A1c.2745-20C>T (n.2745-20C>T)
c.2370-20C>T (n.2370-20C>T)
 gnomAD v4
16g.28903011C>GCA2632541348ATP2A1c.2745-19C>G (n.2745-19C>G)
c.2370-19C>G (n.2370-19C>G)
 gnomAD v4
16g.28903011C>TCA2806424101ATP2A1c.2745-19C>T (n.2745-19C>T)
c.2370-19C>T (n.2370-19C>T)
16g.28903012_28903013dupCA976150931ATP2A1c.2745-18_2745-17dup (n.2745-18_2745-17dup)
c.2370-18_2370-17dup (n.2370-18_2370-17dup)
 dbSNP gnomAD v3 gnomAD v4
16g.28903012_28903013delinsTCCA2215888924ATP2A1c.2745-18_2745-17delinsTC (n.2745-18_2745-17delinsTC)
c.2370-18_2370-17delinsTC (n.2370-18_2370-17delinsTC)
16g.28903013C=CA2215888927ATP2A1c.2745-17C= (n.2745-17C=)
c.2370-17C= (n.2370-17C=)
16g.28903013C>TCA622162585ATP2A1c.2745-17C>T (n.2745-17C>T)
c.2370-17C>T (n.2370-17C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.28903016delCA622162584ATP2A1c.2745-14del (n.2745-14del)
c.2370-14del (n.2370-14del)
 dbSNP gnomAD v2 gnomAD v4
16g.28903014C>TCA2632541349ATP2A1c.2745-16C>T (n.2745-16C>T)
c.2370-16C>T (n.2370-16C>T)
 gnomAD v4
16g.28903015C>ACA7987392ATP2A1c.2745-15C>A (n.2745-15C>A)
c.2370-15C>A (n.2370-15C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28903015C=CA2215888930ATP2A1c.2745-15C= (n.2745-15C=)
c.2370-15C= (n.2370-15C=)
16g.28903017T>ACA2806424102ATP2A1c.2745-13T>A (n.2745-13T>A)
c.2370-13T>A (n.2370-13T>A)
16g.28903017T>CCA622162586ATP2A1c.2745-13T>C (n.2745-13T>C)
c.2370-13T>C (n.2370-13T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28903017T=CA2215888938ATP2A1c.2745-13T= (n.2745-13T=)
c.2370-13T= (n.2370-13T=)
16g.28903018T>CCA2806424103ATP2A1c.2745-12T>C (n.2745-12T>C)
c.2370-12T>C (n.2370-12T>C)
16g.28903019C=CA2215888941ATP2A1c.2745-11C= (n.2745-11C=)
c.2370-11C= (n.2370-11C=)
16g.28903019C>TCA7987393ATP2A1c.2745-11C>T (n.2745-11C>T)
c.2370-11C>T (n.2370-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28903020C>ACA976150941ATP2A1c.2745-10C>A (n.2745-10C>A)
c.2370-10C>A (n.2370-10C>A)
 dbSNP
16g.28903020C=CA2215888942ATP2A1c.2745-10C= (n.2745-10C=)
c.2370-10C= (n.2370-10C=)
16g.28903020C>GCA2632541351ATP2A1c.2745-10C>G (n.2745-10C>G)
c.2370-10C>G (n.2370-10C>G)
 gnomAD v4
16g.28903020C>TCA622162587ATP2A1c.2745-10C>T (n.2745-10C>T)
c.2370-10C>T (n.2370-10C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28903021C=CA2215888944ATP2A1c.2745-9C= (n.2745-9C=)
c.2370-9C= (n.2370-9C=)
16g.28903021C>TCA622162588ATP2A1c.2745-9C>T (n.2745-9C>T)
c.2370-9C>T (n.2370-9C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.28903023T>CCA7987394ATP2A1c.2745-7T>C (n.2745-7T>C)
c.2370-7T>C (n.2370-7T>C)
 dbSNP ExAC gnomAD v2
16g.28903023T=CA2215888947ATP2A1c.2745-7T= (n.2745-7T=)
c.2370-7T= (n.2370-7T=)
16g.28903024C>TCA2632541352ATP2A1c.2745-6C>T (n.2745-6C>T)
c.2370-6C>T (n.2370-6C>T)
 gnomAD v4
16g.28903025T>CCA2632541353ATP2A1c.2745-5T>C (n.2745-5T>C)
c.2370-5T>C (n.2370-5T>C)
 gnomAD v4
16g.28903027C=CA2215888950ATP2A1c.2745-3C= (n.2745-3C=)
c.2370-3C= (n.2370-3C=)
16g.28903027C>TCA7987395ATP2A1c.2745-3C>T (n.2745-3C>T)
c.2370-3C>T (n.2370-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28903028A>CCA395415395ATP2A1c.2745-2A>C (n.2745-2A>C)
c.2370-2A>C (n.2370-2A>C)
16g.28903028A>GCA395415396ATP2A1c.2745-2A>G (n.2745-2A>G)
c.2370-2A>G (n.2370-2A>G)
16g.28903028A>TCA395415397ATP2A1c.2745-2A>T (n.2745-2A>T)
c.2370-2A>T (n.2370-2A>T)
16g.28903029G>ACA395415398ATP2A1c.2745-1G>A (n.2745-1G>A)
c.2370-1G>A (n.2370-1G>A)
16g.28903029G>CCA395415399ATP2A1c.2745-1G>C (n.2745-1G>C)
c.2370-1G>C (n.2370-1G>C)
16g.28903029G>TCA395415400ATP2A1c.2745-1G>T (n.2745-1G>T)
c.2370-1G>T (n.2370-1G>T)
16g.28903030C>ACA395415401ATP2A1c.2745C>A (p.Ser915Arg)
c.2370C>A (p.Ser790Arg)
16g.28903030C>GCA395415402ATP2A1c.2745C>G (p.Ser915Arg)
c.2370C>G (p.Ser790Arg)
16g.28903030C>TCA494874462ATP2A1c.2745C>T (p.Ser915=)
c.2370C>T (p.Ser790=)
16g.28903031C>ACA395415403ATP2A1c.2746C>A (p.Leu916Met)
c.2371C>A (p.Leu791Met)
16g.28903031C>GCA395415404ATP2A1c.2746C>G (p.Leu916Val)
c.2371C>G (p.Leu791Val)
16g.28903031C>TCA494874463ATP2A1c.2746C>T (p.Leu916=)
c.2371C>T (p.Leu791=)
 COSMIC
16g.28903032T>ACA395415405ATP2A1c.2747T>A (p.Leu916Gln)
c.2372T>A (p.Leu791Gln)
16g.28903032T>CCA395415406ATP2A1c.2747T>C (p.Leu916Pro)
c.2372T>C (p.Leu791Pro)
 dbSNP
16g.28903032T>GCA395415407ATP2A1c.2747T>G (p.Leu916Arg)
c.2372T>G (p.Leu791Arg)
16g.28903032T=CA2215888955ATP2A1c.2747T= (p.Leu916=)
c.2372T= (p.Leu791=)
16g.28903033G>ACA7987396ATP2A1c.2748G>A (p.Leu916=)
c.2373G>A (p.Leu791=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.28903033G>CCA494874464ATP2A1c.2748G>C (p.Leu916=)
c.2373G>C (p.Leu791=)
16g.28903033G=CA2215888960ATP2A1c.2748G= (p.Leu916=)
c.2373G= (p.Leu791=)
16g.28903033G>TCA494874465ATP2A1c.2748G>T (p.Leu916=)
c.2373G>T (p.Leu791=)
 gnomAD v4
16g.28903034T>ACA395415408ATP2A1c.2749T>A (p.Ser917Thr)
c.2374T>A (p.Ser792Thr)
16g.28903034T>CCA395415409ATP2A1c.2749T>C (p.Ser917Pro)
c.2374T>C (p.Ser792Pro)
 COSMIC
16g.28903034T>GCA395415410ATP2A1c.2749T>G (p.Ser917Ala)
c.2374T>G (p.Ser792Ala)
16g.28903035C>ACA395415411ATP2A1c.2750C>A (p.Ser917Tyr)
c.2375C>A (p.Ser792Tyr)
 gnomAD v4
16g.28903035C=CA2215888965ATP2A1c.2750C= (p.Ser917=)
c.2375C= (p.Ser792=)
16g.28903035C>GCA395415412ATP2A1c.2750C>G (p.Ser917Cys)
c.2375C>G (p.Ser792Cys)
 ClinVar dbSNP
16g.28903035C>TCA395415413ATP2A1c.2750C>T (p.Ser917Phe)
c.2375C>T (p.Ser792Phe)
16g.28903036C>ACA494874466ATP2A1c.2751C>A (p.Ser917=)
c.2376C>A (p.Ser792=)
16g.28903036C=CA2215888968ATP2A1c.2751C= (p.Ser917=)
c.2376C= (p.Ser792=)
16g.28903036C>GCA494874467ATP2A1c.2751C>G (p.Ser917=)
c.2376C>G (p.Ser792=)
 dbSNP gnomAD v4
16g.28903036C>TCA7987397ATP2A1c.2751C>T (p.Ser917=)
c.2376C>T (p.Ser792=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28903037G>ACA7987398ATP2A1c.2752G>A (p.Glu918Lys)
c.2377G>A (p.Glu793Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28903037G>CCA395415414ATP2A1c.2752G>C (p.Glu918Gln)
c.2377G>C (p.Glu793Gln)
16g.28903037G=CA2215888973ATP2A1c.2752G= (p.Glu918=)
c.2377G= (p.Glu793=)
16g.28903037G>TCA395415415ATP2A1c.2752G>T (p.Glu918Ter)
c.2377G>T (p.Glu793Ter)
16g.28903038A>CCA395415416ATP2A1c.2753A>C (p.Glu918Ala)
c.2378A>C (p.Glu793Ala)
16g.28903038A>GCA395415417ATP2A1c.2753A>G (p.Glu918Gly)
c.2378A>G (p.Glu793Gly)
16g.28903038A>TCA395415418ATP2A1c.2753A>T (p.Glu918Val)
c.2378A>T (p.Glu793Val)
16g.28903039G>ACA494874468ATP2A1c.2754G>A (p.Glu918=)
c.2379G>A (p.Glu793=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28903039G>CCA395415420ATP2A1c.2754G>C (p.Glu918Asp)
c.2379G>C (p.Glu793Asp)
16g.28903039G=CA2215888980ATP2A1c.2754G= (p.Glu918=)
c.2379G= (p.Glu793=)
16g.28903039G>TCA395415419ATP2A1c.2754G>T (p.Glu918Asp)
c.2379G>T (p.Glu793Asp)
16g.28903040A>CCA395415421ATP2A1c.2755A>C (p.Asn919His)
c.2380A>C (p.Asn794His)
16g.28903040A>GCA395415422ATP2A1c.2755A>G (p.Asn919Asp)
c.2380A>G (p.Asn794Asp)
16g.28903040A>TCA395415423ATP2A1c.2755A>T (p.Asn919Tyr)
c.2380A>T (p.Asn794Tyr)
16g.28903041A>CCA395415424ATP2A1c.2756A>C (p.Asn919Thr)
c.2381A>C (p.Asn794Thr)
16g.28903041A>GCA395415425ATP2A1c.2756A>G (p.Asn919Ser)
c.2381A>G (p.Asn794Ser)
16g.28903041A>TCA395415426ATP2A1c.2756A>T (p.Asn919Ile)
c.2381A>T (p.Asn794Ile)
16g.28903042C>ACA7987399ATP2A1c.2757C>A (p.Asn919Lys)
c.2382C>A (p.Asn794Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28903042C=CA2215888984ATP2A1c.2757C= (p.Asn919=)
c.2382C= (p.Asn794=)
16g.28903042C>GCA395415427ATP2A1c.2757C>G (p.Asn919Lys)
c.2382C>G (p.Asn794Lys)
16g.28903042C>TCA494874469ATP2A1c.2757C>T (p.Asn919=)
c.2382C>T (p.Asn794=)
16g.28903043C>ACA395415428ATP2A1c.2758C>A (p.Gln920Lys)
c.2383C>A (p.Gln795Lys)
16g.28903043C=CA2215888992ATP2A1c.2758C= (p.Gln920=)
c.2383C= (p.Gln795=)
16g.28903043C>GCA395415429ATP2A1c.2758C>G (p.Gln920Glu)
c.2383C>G (p.Gln795Glu)
 gnomAD v4
16g.28903043C>TCA16620184ATP2A1c.2758C>T (p.Gln920Ter)
c.2383C>T (p.Gln795Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28903044A=CA2215889000ATP2A1c.2759A= (p.Gln920=)
c.2384A= (p.Gln795=)
16g.28903044A>CCA395415430ATP2A1c.2759A>C (p.Gln920Pro)
c.2384A>C (p.Gln795Pro)
16g.28903044A>GCA395415431ATP2A1c.2759A>G (p.Gln920Arg)
c.2384A>G (p.Gln795Arg)
 dbSNP
16g.28903044A>TCA395415432ATP2A1c.2759A>T (p.Gln920Leu)
c.2384A>T (p.Gln795Leu)
16g.28903045G>ACA494874470ATP2A1c.2760G>A (p.Gln920=)
c.2385G>A (p.Gln795=)
16g.28903045G>CCA395415434ATP2A1c.2760G>C (p.Gln920His)
c.2385G>C (p.Gln795His)
16g.28903045G>TCA395415433ATP2A1c.2760G>T (p.Gln920His)
c.2385G>T (p.Gln795His)
 gnomAD v4
16g.28903046T>ACA395415435ATP2A1c.2761T>A (p.Ser921Thr)
c.2386T>A (p.Ser796Thr)
16g.28903046T>CCA395415436ATP2A1c.2761T>C (p.Ser921Pro)
c.2386T>C (p.Ser796Pro)
16g.28903046T>GCA395415437ATP2A1c.2761T>G (p.Ser921Ala)
c.2386T>G (p.Ser796Ala)
16g.28903047C>ACA395415438ATP2A1c.2762C>A (p.Ser921Tyr)
c.2387C>A (p.Ser796Tyr)
16g.28903047C>GCA395415439ATP2A1c.2762C>G (p.Ser921Cys)
c.2387C>G (p.Ser796Cys)
16g.28903047C>TCA395415440ATP2A1c.2762C>T (p.Ser921Phe)
c.2387C>T (p.Ser796Phe)
 ClinVar dbSNP
16g.28903048C>ACA494874471ATP2A1c.2763C>A (p.Ser921=)
c.2388C>A (p.Ser796=)
16g.28903048C>GCA494874472ATP2A1c.2763C>G (p.Ser921=)
c.2388C>G (p.Ser796=)
16g.28903048C>TCA494874473ATP2A1c.2763C>T (p.Ser921=)
c.2388C>T (p.Ser796=)
16g.28903049C>ACA395415441ATP2A1c.2764C>A (p.Leu922Met)
c.2389C>A (p.Leu797Met)
16g.28903049C>GCA395415442ATP2A1c.2764C>G (p.Leu922Val)
c.2389C>G (p.Leu797Val)
16g.28903049C>TCA494874474ATP2A1c.2764C>T (p.Leu922=)
c.2389C>T (p.Leu797=)
 ClinVar dbSNP
16g.28903050T>ACA395415443ATP2A1c.2765T>A (p.Leu922Gln)
c.2390T>A (p.Leu797Gln)
16g.28903050T>CCA395415444ATP2A1c.2765T>C (p.Leu922Pro)
c.2390T>C (p.Leu797Pro)
 dbSNP gnomAD v4
16g.28903050T>GCA395415445ATP2A1c.2765T>G (p.Leu922Arg)
c.2390T>G (p.Leu797Arg)
16g.28903050T=CA2215889003ATP2A1c.2765T= (p.Leu922=)
c.2390T= (p.Leu797=)
16g.28903051G>ACA494874477ATP2A1c.2766G>A (p.Leu922=)
c.2391G>A (p.Leu797=)
16g.28903051G>CCA494874476ATP2A1c.2766G>C (p.Leu922=)
c.2391G>C (p.Leu797=)
16g.28903051G>TCA494874475ATP2A1c.2766G>T (p.Leu922=)
c.2391G>T (p.Leu797=)
16g.28903052C>ACA395415446ATP2A1c.2767C>A (p.Leu923Met)
c.2392C>A (p.Leu798Met)
16g.28903052C>GCA395415447ATP2A1c.2767C>G (p.Leu923Val)
c.2392C>G (p.Leu798Val)
16g.28903052C>TCA494874478ATP2A1c.2767C>T (p.Leu923=)
c.2392C>T (p.Leu798=)
16g.28903053T>ACA7987400ATP2A1c.2768T>A (p.Leu923Gln)
c.2393T>A (p.Leu798Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28903053T>CCA395415449ATP2A1c.2768T>C (p.Leu923Pro)
c.2393T>C (p.Leu798Pro)
16g.28903053T>GCA395415448ATP2A1c.2768T>G (p.Leu923Arg)
c.2393T>G (p.Leu798Arg)
16g.28903053T=CA2215889007ATP2A1c.2768T= (p.Leu923=)
c.2393T= (p.Leu798=)
16g.28903054G>ACA494874479ATP2A1c.2769G>A (p.Leu923=)
c.2394G>A (p.Leu798=)
16g.28903054G>CCA494874480ATP2A1c.2769G>C (p.Leu923=)
c.2394G>C (p.Leu798=)
16g.28903054G>TCA494874481ATP2A1c.2769G>T (p.Leu923=)
c.2394G>T (p.Leu798=)
16g.28903055_28903056dupCA719742701ATP2A1c.2770_2771dup (p.Met925GlyfsTer6)
c.2395_2396dup (p.Met800GlyfsTer6)
 dbSNP
16g.28903055C>ACA494874482ATP2A1c.2770C>A (p.Arg924=)
c.2395C>A (p.Arg799=)
16g.28903055C=CA2215889013ATP2A1c.2770C= (p.Arg924=)
c.2395C= (p.Arg799=)
16g.28903055C>GCA395415450ATP2A1c.2770C>G (p.Arg924Gly)
c.2395C>G (p.Arg799Gly)
16g.28903055C>TCA395415451ATP2A1c.2770C>T (p.Arg924Trp)
c.2395C>T (p.Arg799Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.28903056G>ACA7987401ATP2A1c.2771G>A (p.Arg924Gln)
c.2396G>A (p.Arg799Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28903056G>CCA395415452ATP2A1c.2771G>C (p.Arg924Pro)
c.2396G>C (p.Arg799Pro)
16g.28903056G=CA2215889019ATP2A1c.2771G= (p.Arg924=)
c.2396G= (p.Arg799=)
16g.28903056G>TCA395415453ATP2A1c.2771G>T (p.Arg924Leu)
c.2396G>T (p.Arg799Leu)
16g.28903057delCA2632541355ATP2A1c.2772del (p.Met925CysfsTer5)
c.2397del (p.Met800CysfsTer5)
 gnomAD v4
16g.28903057G>ACA7987402ATP2A1c.2772G>A (p.Arg924=)
c.2397G>A (p.Arg799=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28903057G>CCA494874483ATP2A1c.2772G>C (p.Arg924=)
c.2397G>C (p.Arg799=)
16g.28903057G=CA2215889027ATP2A1c.2772G= (p.Arg924=)
c.2397G= (p.Arg799=)
16g.28903057G>TCA494874484ATP2A1c.2772G>T (p.Arg924=)
c.2397G>T (p.Arg799=)
16g.28903058A=CA2215889034ATP2A1c.2773A= (p.Met925=)
c.2398A= (p.Met800=)
16g.28903058A>CCA395415454ATP2A1c.2773A>C (p.Met925Leu)
c.2398A>C (p.Met800Leu)
16g.28903058A>GCA395415455ATP2A1c.2773A>G (p.Met925Val)
c.2398A>G (p.Met800Val)
 dbSNP gnomAD v3 gnomAD v4
16g.28903058A>TCA395415456ATP2A1c.2773A>T (p.Met925Leu)
c.2398A>T (p.Met800Leu)
16g.28903059T>ACA395415457ATP2A1c.2774T>A (p.Met925Lys)
c.2399T>A (p.Met800Lys)
16g.28903059T>CCA395415458ATP2A1c.2774T>C (p.Met925Thr)
c.2399T>C (p.Met800Thr)
16g.28903059T>GCA395415459ATP2A1c.2774T>G (p.Met925Arg)
c.2399T>G (p.Met800Arg)
16g.28903059dupCA224216ATP2A1c.2774dup (p.Met925IlefsTer27)
c.2399dup (p.Met800IlefsTer27)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched