Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21570253C>ACA2643930558ALPLc.793-52C>A (n.793-52C>A)
c.562-52C>A (n.562-52C>A)
c.628-52C>A (n.628-52C>A)
c.637-52C>A (n.637-52C>A)
 gnomAD v4
1g.21570253_21570254delCA2643930557ALPLc.793-52_793-51del (n.793-52_793-51del)
c.562-52_562-51del (n.562-52_562-51del)
c.628-52_628-51del (n.628-52_628-51del)
c.637-52_637-51del (n.637-52_637-51del)
 gnomAD v4
1g.21570254T>CCA521577603ALPLc.793-51T>C (n.793-51T>C)
c.562-51T>C (n.562-51T>C)
c.628-51T>C (n.628-51T>C)
c.637-51T>C (n.637-51T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.21570254T=CA1158016939ALPLc.793-51T= (n.793-51T=)
c.562-51T= (n.562-51T=)
c.628-51T= (n.628-51T=)
c.637-51T= (n.637-51T=)
1g.21570256C>ACA2643930559ALPLc.793-49C>A (n.793-49C>A)
c.562-49C>A (n.562-49C>A)
c.628-49C>A (n.628-49C>A)
c.637-49C>A (n.637-49C>A)
 gnomAD v4
1g.21570257C>ACA2574253161ALPLc.793-48C>A (n.793-48C>A)
c.562-48C>A (n.562-48C>A)
c.628-48C>A (n.628-48C>A)
c.637-48C>A (n.637-48C>A)
 gnomAD v4
1g.21570257C=CA1143728444ALPLc.793-48C= (n.793-48C=)
c.562-48C= (n.562-48C=)
c.628-48C= (n.628-48C=)
c.637-48C= (n.637-48C=)
1g.21570257C>TCA666613ALPLc.793-48C>T (n.793-48C>T)
c.562-48C>T (n.562-48C>T)
c.628-48C>T (n.628-48C>T)
c.637-48C>T (n.637-48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570258G>ACA666614ALPLc.793-47G>A (n.793-47G>A)
c.562-47G>A (n.562-47G>A)
c.628-47G>A (n.628-47G>A)
c.637-47G>A (n.637-47G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570258G=CA1143956713ALPLc.793-47G= (n.793-47G=)
c.562-47G= (n.562-47G=)
c.628-47G= (n.628-47G=)
c.637-47G= (n.637-47G=)
1g.21570258G>TCA666615ALPLc.793-47G>T (n.793-47G>T)
c.562-47G>T (n.562-47G>T)
c.628-47G>T (n.628-47G>T)
c.637-47G>T (n.637-47G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21570259A>CCA999407794ALPLc.793-46A>C (n.793-46A>C)
c.562-46A>C (n.562-46A>C)
c.628-46A>C (n.628-46A>C)
c.637-46A>C (n.637-46A>C)
 gnomAD v3 gnomAD v4
1g.21570260C>ACA2643930560ALPLc.793-45C>A (n.793-45C>A)
c.562-45C>A (n.562-45C>A)
c.628-45C>A (n.628-45C>A)
c.637-45C>A (n.637-45C>A)
 gnomAD v4
1g.21570260C=CA1158016940ALPLc.793-45C= (n.793-45C=)
c.562-45C= (n.562-45C=)
c.628-45C= (n.628-45C=)
c.637-45C= (n.637-45C=)
1g.21570260C>GCA521577604ALPLc.793-45C>G (n.793-45C>G)
c.562-45C>G (n.562-45C>G)
c.628-45C>G (n.628-45C>G)
c.637-45C>G (n.637-45C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21570262C>ACA2643930561ALPLc.793-43C>A (n.793-43C>A)
c.562-43C>A (n.562-43C>A)
c.628-43C>A (n.628-43C>A)
c.637-43C>A (n.637-43C>A)
 gnomAD v4
1g.21570262C>TCA2643930562ALPLc.793-43C>T (n.793-43C>T)
c.562-43C>T (n.562-43C>T)
c.628-43C>T (n.628-43C>T)
c.637-43C>T (n.637-43C>T)
 gnomAD v4
1g.21570263T>GCA666616ALPLc.793-42T>G (n.793-42T>G)
c.562-42T>G (n.562-42T>G)
c.628-42T>G (n.628-42T>G)
c.637-42T>G (n.637-42T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570263T=CA1143954741ALPLc.793-42T= (n.793-42T=)
c.562-42T= (n.562-42T=)
c.628-42T= (n.628-42T=)
c.637-42T= (n.637-42T=)
1g.21570264C>ACA2643930563ALPLc.793-41C>A (n.793-41C>A)
c.562-41C>A (n.562-41C>A)
c.628-41C>A (n.628-41C>A)
c.637-41C>A (n.637-41C>A)
 gnomAD v4
1g.21570264C=CA1158016941ALPLc.793-41C= (n.793-41C=)
c.562-41C= (n.562-41C=)
c.628-41C= (n.628-41C=)
c.637-41C= (n.637-41C=)
1g.21570264C>TCA1158016942ALPLc.793-41C>T (n.793-41C>T)
c.562-41C>T (n.562-41C>T)
c.628-41C>T (n.628-41C>T)
c.637-41C>T (n.637-41C>T)
 dbSNP gnomAD v4
1g.21570265C>ACA2643930564ALPLc.793-40C>A (n.793-40C>A)
c.562-40C>A (n.562-40C>A)
c.628-40C>A (n.628-40C>A)
c.637-40C>A (n.637-40C>A)
 gnomAD v4
1g.21570266C>ACA2643930565ALPLc.793-39C>A (n.793-39C>A)
c.562-39C>A (n.562-39C>A)
c.628-39C>A (n.628-39C>A)
c.637-39C>A (n.637-39C>A)
 gnomAD v4
1g.21570266C>GCA2643930566ALPLc.793-39C>G (n.793-39C>G)
c.562-39C>G (n.562-39C>G)
c.628-39C>G (n.628-39C>G)
c.637-39C>G (n.637-39C>G)
 gnomAD v4
1g.21570268A>GCA2643930567ALPLc.793-37A>G (n.793-37A>G)
c.562-37A>G (n.562-37A>G)
c.628-37A>G (n.628-37A>G)
c.637-37A>G (n.637-37A>G)
 gnomAD v4
1g.21570269G>ACA1158016943ALPLc.793-36G>A (n.793-36G>A)
c.562-36G>A (n.562-36G>A)
c.628-36G>A (n.628-36G>A)
c.637-36G>A (n.637-36G>A)
 dbSNP
1g.21570269G=CA1158016944ALPLc.793-36G= (n.793-36G=)
c.562-36G= (n.562-36G=)
c.628-36G= (n.628-36G=)
c.637-36G= (n.637-36G=)
1g.21570269G>TCA2643930568ALPLc.793-36G>T (n.793-36G>T)
c.562-36G>T (n.562-36G>T)
c.628-36G>T (n.628-36G>T)
c.637-36G>T (n.637-36G>T)
 gnomAD v4
1g.21570270C>ACA19065036ALPLc.793-35C>A (n.793-35C>A)
c.562-35C>A (n.562-35C>A)
c.628-35C>A (n.628-35C>A)
c.637-35C>A (n.637-35C>A)
 dbSNP gnomAD v4
1g.21570270C=CA1144166149ALPLc.793-35C= (n.793-35C=)
c.562-35C= (n.562-35C=)
c.628-35C= (n.628-35C=)
c.637-35C= (n.637-35C=)
1g.21570270C>GCA521577605ALPLc.793-35C>G (n.793-35C>G)
c.562-35C>G (n.562-35C>G)
c.628-35C>G (n.628-35C>G)
c.637-35C>G (n.637-35C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21570270C>TCA2643930570ALPLc.793-35C>T (n.793-35C>T)
c.562-35C>T (n.562-35C>T)
c.628-35C>T (n.628-35C>T)
c.637-35C>T (n.637-35C>T)
 gnomAD v4
1g.21570274delCA2643930569ALPLc.793-31del (n.793-31del)
c.562-31del (n.562-31del)
c.628-31del (n.628-31del)
c.637-31del (n.637-31del)
 gnomAD v4
1g.21570271C>TCA2643930571ALPLc.793-34C>T (n.793-34C>T)
c.562-34C>T (n.562-34C>T)
c.628-34C>T (n.628-34C>T)
c.637-34C>T (n.637-34C>T)
 gnomAD v4
1g.21570272C>ACA1158016946ALPLc.793-33C>A (n.793-33C>A)
c.562-33C>A (n.562-33C>A)
c.628-33C>A (n.628-33C>A)
c.637-33C>A (n.637-33C>A)
 dbSNP
1g.21570272C=CA1158016945ALPLc.793-33C= (n.793-33C=)
c.562-33C= (n.562-33C=)
c.628-33C= (n.628-33C=)
c.637-33C= (n.637-33C=)
1g.21570272C>TCA666617ALPLc.793-33C>T (n.793-33C>T)
c.562-33C>T (n.562-33C>T)
c.628-33C>T (n.628-33C>T)
c.637-33C>T (n.637-33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570275_21570294delCA2586964043ALPLc.793-30_793-11del (n.793-30_793-11del)
c.562-30_562-11del (n.562-30_562-11del)
c.628-30_628-11del (n.628-30_628-11del)
c.637-30_637-11del (n.637-30_637-11del)
 ClinVar
1g.21570273C=CA1158016947ALPLc.793-32C= (n.793-32C=)
c.562-32C= (n.562-32C=)
c.628-32C= (n.628-32C=)
c.637-32C= (n.637-32C=)
1g.21570273C>TCA1158016948ALPLc.793-32C>T (n.793-32C>T)
c.562-32C>T (n.562-32C>T)
c.628-32C>T (n.628-32C>T)
c.637-32C>T (n.637-32C>T)
 dbSNP
1g.21570274C>ACA2581649592ALPLc.793-31C>A (n.793-31C>A)
c.562-31C>A (n.562-31C>A)
c.628-31C>A (n.628-31C>A)
c.637-31C>A (n.637-31C>A)
1g.21570274C=CA1139859681ALPLc.793-31C= (n.793-31C=)
c.562-31C= (n.562-31C=)
c.628-31C= (n.628-31C=)
c.637-31C= (n.637-31C=)
1g.21570274C>GCA2581649593ALPLc.793-31C>G (n.793-31C>G)
c.562-31C>G (n.562-31C>G)
c.628-31C>G (n.628-31C>G)
c.637-31C>G (n.637-31C>G)
1g.21570274C>TCA666618ALPLc.793-31C>T (n.793-31C>T)
c.562-31C>T (n.562-31C>T)
c.628-31C>T (n.628-31C>T)
c.637-31C>T (n.637-31C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570275G>ACA666619ALPLc.793-30G>A (n.793-30G>A)
c.562-30G>A (n.562-30G>A)
c.628-30G>A (n.628-30G>A)
c.637-30G>A (n.637-30G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570275G=CA1143806519ALPLc.793-30G= (n.793-30G=)
c.562-30G= (n.562-30G=)
c.628-30G= (n.628-30G=)
c.637-30G= (n.637-30G=)
1g.21570276delCA2643930573ALPLc.793-29del (n.793-29del)
c.562-29del (n.562-29del)
c.628-29del (n.628-29del)
c.637-29del (n.637-29del)
 gnomAD v4
1g.21570276G>ACA666621ALPLc.793-29G>A (n.793-29G>A)
c.562-29G>A (n.562-29G>A)
c.628-29G>A (n.628-29G>A)
c.637-29G>A (n.637-29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21570276G>CCA666620ALPLc.793-29G>C (n.793-29G>C)
c.562-29G>C (n.562-29G>C)
c.628-29G>C (n.628-29G>C)
c.637-29G>C (n.637-29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570276G=CA1145487232ALPLc.793-29G= (n.793-29G=)
c.562-29G= (n.562-29G=)
c.628-29G= (n.628-29G=)
c.637-29G= (n.637-29G=)
1g.21570277C>ACA19065092ALPLc.793-28C>A (n.793-28C>A)
c.562-28C>A (n.562-28C>A)
c.628-28C>A (n.628-28C>A)
c.637-28C>A (n.637-28C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.21570277C=CA1140734788ALPLc.793-28C= (n.793-28C=)
c.562-28C= (n.562-28C=)
c.628-28C= (n.628-28C=)
c.637-28C= (n.637-28C=)
1g.21570277C>TCA2643930579ALPLc.793-28C>T (n.793-28C>T)
c.562-28C>T (n.562-28C>T)
c.628-28C>T (n.628-28C>T)
c.637-28C>T (n.637-28C>T)
 gnomAD v4
1g.21570278A>GCA2643930582ALPLc.793-27A>G (n.793-27A>G)
c.562-27A>G (n.562-27A>G)
c.628-27A>G (n.628-27A>G)
c.637-27A>G (n.637-27A>G)
 gnomAD v4
1g.21570279T>CCA731320193ALPLc.793-26T>C (n.793-26T>C)
c.562-26T>C (n.562-26T>C)
c.628-26T>C (n.628-26T>C)
c.637-26T>C (n.637-26T>C)
 dbSNP gnomAD v4
1g.21570279T=CA1158016949ALPLc.793-26T= (n.793-26T=)
c.562-26T= (n.562-26T=)
c.628-26T= (n.628-26T=)
c.637-26T= (n.637-26T=)
1g.21570283C=CA1158016950ALPLc.793-22C= (n.793-22C=)
c.562-22C= (n.562-22C=)
c.628-22C= (n.628-22C=)
c.637-22C= (n.637-22C=)
1g.21570283C>TCA731320194ALPLc.793-22C>T (n.793-22C>T)
c.562-22C>T (n.562-22C>T)
c.628-22C>T (n.628-22C>T)
c.637-22C>T (n.637-22C>T)
 dbSNP gnomAD v4
1g.21570285_21570287delinsGACCA1158016951ALPLc.793-20_793-18delinsGAC (n.793-20_793-18delinsGAC)
c.562-20_562-18delinsGAC (n.562-20_562-18delinsGAC)
c.628-20_628-18delinsGAC (n.628-20_628-18delinsGAC)
c.637-20_637-18delinsGAC (n.637-20_637-18delinsGAC)
1g.21570286A>GCA2643930583ALPLc.793-19A>G (n.793-19A>G)
c.562-19A>G (n.562-19A>G)
c.628-19A>G (n.628-19A>G)
c.637-19A>G (n.637-19A>G)
 gnomAD v4
1g.21570289_21570290delCA666622ALPLc.793-16_793-15del (n.793-16_793-15del)
c.562-16_562-15del (n.562-16_562-15del)
c.628-16_628-15del (n.628-16_628-15del)
c.637-16_637-15del (n.637-16_637-15del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21570287C=CA1158016952ALPLc.793-18C= (n.793-18C=)
c.562-18C= (n.562-18C=)
c.628-18C= (n.628-18C=)
c.637-18C= (n.637-18C=)
1g.21570287C>TCA999407813ALPLc.793-18C>T (n.793-18C>T)
c.562-18C>T (n.562-18C>T)
c.628-18C>T (n.628-18C>T)
c.637-18C>T (n.637-18C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21570288A>GCA2574253162ALPLc.793-17A>G (n.793-17A>G)
c.562-17A>G (n.562-17A>G)
c.628-17A>G (n.628-17A>G)
c.637-17A>G (n.637-17A>G)
 ClinVar
1g.21570289C>TCA2580061446ALPLc.793-16C>T (n.793-16C>T)
c.562-16C>T (n.562-16C>T)
c.628-16C>T (n.628-16C>T)
c.637-16C>T (n.637-16C>T)
 ClinVar
1g.21570290A>GCA2643930585ALPLc.793-15A>G (n.793-15A>G)
c.562-15A>G (n.562-15A>G)
c.628-15A>G (n.628-15A>G)
c.637-15A>G (n.637-15A>G)
 ClinVar gnomAD v4
1g.21570292C>ACA521577606ALPLc.793-13C>A (n.793-13C>A)
c.562-13C>A (n.562-13C>A)
c.628-13C>A (n.628-13C>A)
c.637-13C>A (n.637-13C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.21570292C=CA1158016953ALPLc.793-13C= (n.793-13C=)
c.562-13C= (n.562-13C=)
c.628-13C= (n.628-13C=)
c.637-13C= (n.637-13C=)
1g.21570292C>TCA666623ALPLc.793-13C>T (n.793-13C>T)
c.562-13C>T (n.562-13C>T)
c.628-13C>T (n.628-13C>T)
c.637-13C>T (n.637-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21570294C>TCA2643930589ALPLc.793-11C>T (n.793-11C>T)
c.562-11C>T (n.562-11C>T)
c.628-11C>T (n.628-11C>T)
c.637-11C>T (n.637-11C>T)
 gnomAD v4
1g.21570295T>ACA2739272373ALPLc.793-10T>A (n.793-10T>A)
c.562-10T>A (n.562-10T>A)
c.628-10T>A (n.628-10T>A)
c.637-10T>A (n.637-10T>A)
 ClinVar
1g.21570295T>CCA645293787ALPLc.793-10T>C (n.793-10T>C)
c.562-10T>C (n.562-10T>C)
c.628-10T>C (n.628-10T>C)
c.637-10T>C (n.637-10T>C)
 ClinVar dbSNP
1g.21570295T=CA1158016954ALPLc.793-10T= (n.793-10T=)
c.562-10T= (n.562-10T=)
c.628-10T= (n.628-10T=)
c.637-10T= (n.637-10T=)
1g.21570299_21570310delCA2643930590ALPLc.793-6_798del
c.562-6_567del
c.628-6_633del
c.637-6_642del
 gnomAD v4
1g.21570297C>ACA2742753857ALPLc.793-8C>A (n.793-8C>A)
c.562-8C>A (n.562-8C>A)
c.628-8C>A (n.628-8C>A)
c.637-8C>A (n.637-8C>A)
1g.21570301C>TCA2643930591ALPLc.793-4C>T (n.793-4C>T)
c.562-4C>T (n.562-4C>T)
c.628-4C>T (n.628-4C>T)
c.637-4C>T (n.637-4C>T)
 gnomAD v4
1g.21570303A>CCA338879829ALPLc.793-2A>C (n.793-2A>C)
c.1A>C
c.562-2A>C (n.562-2A>C)
c.628-2A>C (n.628-2A>C)
c.637-2A>C (n.637-2A>C)
1g.21570303A>GCA338879830ALPLc.793-2A>G (n.793-2A>G)
c.1A>G
c.562-2A>G (n.562-2A>G)
c.628-2A>G (n.628-2A>G)
c.637-2A>G (n.637-2A>G)
1g.21570303A>TCA338879832ALPLc.793-2A>T (n.793-2A>T)
c.1A>T
c.562-2A>T (n.562-2A>T)
c.628-2A>T (n.628-2A>T)
c.637-2A>T (n.637-2A>T)
1g.21570304G>ACA338879834ALPLc.793-1G>A (n.793-1G>A)
c.2G>A
c.562-1G>A (n.562-1G>A)
c.628-1G>A (n.628-1G>A)
c.637-1G>A (n.637-1G>A)
1g.21570304G>CCA338879835ALPLc.793-1G>C (n.793-1G>C)
c.2G>C
c.562-1G>C (n.562-1G>C)
c.628-1G>C (n.628-1G>C)
c.637-1G>C (n.637-1G>C)
1g.21570304G>TCA338879837ALPLc.793-1G>T (n.793-1G>T)
c.2G>T
c.562-1G>T (n.562-1G>T)
c.628-1G>T (n.628-1G>T)
c.637-1G>T (n.637-1G>T)
1g.21570305delCA2739272374ALPLc.793del (p.His265ThrfsTer12)
c.3del
c.562del (p.His188ThrfsTer12)
c.628del (p.His210ThrfsTer12)
c.637del (p.His213ThrfsTer12)
 ClinVar
1g.21570305C>ACA338879842ALPLc.793C>A (p.His265Asn)
c.3C>A
c.562C>A (p.His188Asn)
c.628C>A (p.His210Asn)
c.637C>A (p.His213Asn)
1g.21570305C>GCA338879839ALPLc.793C>G (p.His265Asp)
c.3C>G
c.562C>G (p.His188Asp)
c.628C>G (p.His210Asp)
c.637C>G (p.His213Asp)
1g.21570305C>TCA338879841ALPLc.793C>T (p.His265Tyr)
c.3C>T
c.562C>T (p.His188Tyr)
c.628C>T (p.His210Tyr)
c.637C>T (p.His213Tyr)
1g.21570309_21570314delCA2586964044ALPLc.797_802del (p.Ser266_His267del)
c.7_12del
c.566_571del (p.Ser189_His190del)
c.632_637del (p.Ser211_His212del)
c.641_646del (p.Ser214_His215del)
1g.21570306A>CCA338879844ALPLc.794A>C (p.His265Pro)
c.4A>C
c.563A>C (p.His188Pro)
c.629A>C (p.His210Pro)
c.638A>C (p.His213Pro)
1g.21570306A>GCA338879846ALPLc.794A>G (p.His265Arg)
c.4A>G
c.563A>G (p.His188Arg)
c.629A>G (p.His210Arg)
c.638A>G (p.His213Arg)
1g.21570306A>TCA338879848ALPLc.794A>T (p.His265Leu)
c.4A>T
c.563A>T (p.His188Leu)
c.629A>T (p.His210Leu)
c.638A>T (p.His213Leu)
1g.21570307C>ACA338879849ALPLc.795C>A (p.His265Gln)
c.5C>A
c.564C>A (p.His188Gln)
c.630C>A (p.His210Gln)
c.639C>A (p.His213Gln)
1g.21570307C=CA1158016955ALPLc.795C= (p.His265=)
c.5C=
c.564C= (p.His188=)
c.630C= (p.His210=)
c.639C= (p.His213=)
1g.21570307C>GCA338879851ALPLc.795C>G (p.His265Gln)
c.5C>G
c.564C>G (p.His188Gln)
c.630C>G (p.His210Gln)
c.639C>G (p.His213Gln)
1g.21570307C>TCA416530857ALPLc.795C>T (p.His265=)
c.5C>T
c.564C>T (p.His188=)
c.630C>T (p.His210=)
c.639C>T (p.His213=)
 ClinVar dbSNP
1g.21570308T>ACA338879853ALPLc.796T>A (p.Ser266Thr)
c.6T>A
c.565T>A (p.Ser189Thr)
c.631T>A (p.Ser211Thr)
c.640T>A (p.Ser214Thr)
1g.21570308T>CCA338879855ALPLc.796T>C (p.Ser266Pro)
c.6T>C
c.565T>C (p.Ser189Pro)
c.631T>C (p.Ser211Pro)
c.640T>C (p.Ser214Pro)
1g.21570308T>GCA338879857ALPLc.796T>G (p.Ser266Ala)
c.6T>G
c.565T>G (p.Ser189Ala)
c.631T>G (p.Ser211Ala)
c.640T>G (p.Ser214Ala)
1g.21570309C>ACA338879858ALPLc.797C>A (p.Ser266Tyr)
c.7C>A
c.566C>A (p.Ser189Tyr)
c.632C>A (p.Ser211Tyr)
c.641C>A (p.Ser214Tyr)
 gnomAD v4
1g.21570309C>GCA338879860ALPLc.797C>G (p.Ser266Cys)
c.7C>G
c.566C>G (p.Ser189Cys)
c.632C>G (p.Ser211Cys)
c.641C>G (p.Ser214Cys)
 gnomAD v4
1g.21570309C>TCA338879861ALPLc.797C>T (p.Ser266Phe)
c.7C>T
c.566C>T (p.Ser189Phe)
c.632C>T (p.Ser211Phe)
c.641C>T (p.Ser214Phe)
 gnomAD v4
1g.21570311delCA2580061447ALPLc.799del (p.His267ThrfsTer10)
c.9del
c.568del (p.His190ThrfsTer10)
c.634del (p.His212ThrfsTer10)
c.643del (p.His215ThrfsTer10)
 ClinVar
1g.21570310C>ACA416530864ALPLc.798C>A (p.Ser266=)
c.8C>A
c.567C>A (p.Ser189=)
c.633C>A (p.Ser211=)
c.642C>A (p.Ser214=)
1g.21570310C=CA1158016956ALPLc.798C= (p.Ser266=)
c.8C=
c.567C= (p.Ser189=)
c.633C= (p.Ser211=)
c.642C= (p.Ser214=)
1g.21570310C>GCA416530868ALPLc.798C>G (p.Ser266=)
c.8C>G
c.567C>G (p.Ser189=)
c.633C>G (p.Ser211=)
c.642C>G (p.Ser214=)
1g.21570310C>TCA416530866ALPLc.798C>T (p.Ser266=)
c.8C>T
c.567C>T (p.Ser189=)
c.633C>T (p.Ser211=)
c.642C>T (p.Ser214=)
 dbSNP
1g.21570311_21570316delCA2586964045ALPLc.799_804del (p.His267_Phe268del)
c.9_14del
c.568_573del (p.His190_Phe191del)
c.634_639del (p.His212_Phe213del)
c.643_648del (p.His215_Phe216del)
 gnomAD v4
1g.21570311C>ACA338879865ALPLc.799C>A (p.His267Asn)
c.9C>A
c.568C>A (p.His190Asn)
c.634C>A (p.His212Asn)
c.643C>A (p.His215Asn)
1g.21570311C>GCA338879866ALPLc.799C>G (p.His267Asp)
c.9C>G
c.568C>G (p.His190Asp)
c.634C>G (p.His212Asp)
c.643C>G (p.His215Asp)
1g.21570311C>TCA338879863ALPLc.799C>T (p.His267Tyr)
c.9C>T
c.568C>T (p.His190Tyr)
c.634C>T (p.His212Tyr)
c.643C>T (p.His215Tyr)
 gnomAD v4
1g.21570312A=CA1158016957ALPLc.800A= (p.His267=)
c.10A=
c.569A= (p.His190=)
c.635A= (p.His212=)
c.644A= (p.His215=)
1g.21570312A>CCA338879868ALPLc.800A>C (p.His267Pro)
c.10A>C
c.569A>C (p.His190Pro)
c.635A>C (p.His212Pro)
c.644A>C (p.His215Pro)
1g.21570312A>GCA338879869ALPLc.800A>G (p.His267Arg)
c.10A>G
c.569A>G (p.His190Arg)
c.635A>G (p.His212Arg)
c.644A>G (p.His215Arg)
 dbSNP
1g.21570312A>TCA338879871ALPLc.800A>T (p.His267Leu)
c.10A>T
c.569A>T (p.His190Leu)
c.635A>T (p.His212Leu)
c.644A>T (p.His215Leu)
1g.21570313C>ACA338879873ALPLc.801C>A (p.His267Gln)
c.11C>A
c.570C>A (p.His190Gln)
c.636C>A (p.His212Gln)
c.645C>A (p.His215Gln)
1g.21570313C>GCA338879875ALPLc.801C>G (p.His267Gln)
c.11C>G
c.570C>G (p.His190Gln)
c.636C>G (p.His212Gln)
c.645C>G (p.His215Gln)
1g.21570313C>TCA416530873ALPLc.801C>T (p.His267=)
c.11C>T
c.570C>T (p.His190=)
c.636C>T (p.His212=)
c.645C>T (p.His215=)
1g.21570314T>ACA338879876ALPLc.802T>A (p.Phe268Ile)
c.12T>A
c.571T>A (p.Phe191Ile)
c.637T>A (p.Phe213Ile)
c.646T>A (p.Phe216Ile)
1g.21570314T>CCA666624ALPLc.802T>C (p.Phe268Leu)
c.12T>C
c.571T>C (p.Phe191Leu)
c.637T>C (p.Phe213Leu)
c.646T>C (p.Phe216Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570314T>GCA338879878ALPLc.802T>G (p.Phe268Val)
c.12T>G
c.571T>G (p.Phe191Val)
c.637T>G (p.Phe213Val)
c.646T>G (p.Phe216Val)
1g.21570314T=CA1158016958ALPLc.802T= (p.Phe268=)
c.12T=
c.571T= (p.Phe191=)
c.637T= (p.Phe213=)
c.646T= (p.Phe216=)
1g.21570315T>ACA338879880ALPLc.803T>A (p.Phe268Tyr)
c.13T>A
c.572T>A (p.Phe191Tyr)
c.638T>A (p.Phe213Tyr)
c.647T>A (p.Phe216Tyr)
1g.21570315T>CCA338879882ALPLc.803T>C (p.Phe268Ser)
c.13T>C
c.572T>C (p.Phe191Ser)
c.638T>C (p.Phe213Ser)
c.647T>C (p.Phe216Ser)
1g.21570315T>GCA338879883ALPLc.803T>G (p.Phe268Cys)
c.13T>G
c.572T>G (p.Phe191Cys)
c.638T>G (p.Phe213Cys)
c.647T>G (p.Phe216Cys)
 ClinVar
1g.21570316C>ACA338879884ALPLc.804C>A (p.Phe268Leu)
c.14C>A
c.573C>A (p.Phe191Leu)
c.639C>A (p.Phe213Leu)
c.648C>A (p.Phe216Leu)
1g.21570316C>GCA338879885ALPLc.804C>G (p.Phe268Leu)
c.14C>G
c.573C>G (p.Phe191Leu)
c.639C>G (p.Phe213Leu)
c.648C>G (p.Phe216Leu)
1g.21570316C>TCA416530879ALPLc.804C>T (p.Phe268=)
c.14C>T
c.573C>T (p.Phe191=)
c.639C>T (p.Phe213=)
c.648C>T (p.Phe216=)
1g.21570317A>CCA338879890ALPLc.805A>C (p.Ile269Leu)
c.15A>C
c.574A>C (p.Ile192Leu)
c.640A>C (p.Ile214Leu)
c.649A>C (p.Ile217Leu)
1g.21570317A>GCA338879888ALPLc.805A>G (p.Ile269Val)
c.15A>G
c.574A>G (p.Ile192Val)
c.640A>G (p.Ile214Val)
c.649A>G (p.Ile217Val)
1g.21570317A>TCA338879887ALPLc.805A>T (p.Ile269Phe)
c.15A>T
c.574A>T (p.Ile192Phe)
c.640A>T (p.Ile214Phe)
c.649A>T (p.Ile217Phe)
1g.21570318T>ACA338879891ALPLc.806T>A (p.Ile269Asn)
c.16T>A
c.575T>A (p.Ile192Asn)
c.641T>A (p.Ile214Asn)
c.650T>A (p.Ile217Asn)
1g.21570318T>CCA338879893ALPLc.806T>C (p.Ile269Thr)
c.16T>C
c.575T>C (p.Ile192Thr)
c.641T>C (p.Ile214Thr)
c.650T>C (p.Ile217Thr)
1g.21570318T>GCA338879894ALPLc.806T>G (p.Ile269Ser)
c.16T>G
c.575T>G (p.Ile192Ser)
c.641T>G (p.Ile214Ser)
c.650T>G (p.Ile217Ser)
1g.21570319C>ACA416530885ALPLc.807C>A (p.Ile269=)
c.17C>A
c.576C>A (p.Ile192=)
c.642C>A (p.Ile214=)
c.651C>A (p.Ile217=)
1g.21570319C>GCA338879896ALPLc.807C>G (p.Ile269Met)
c.17C>G
c.576C>G (p.Ile192Met)
c.642C>G (p.Ile214Met)
c.651C>G (p.Ile217Met)
1g.21570319C>TCA416530887ALPLc.807C>T (p.Ile269=)
c.17C>T
c.576C>T (p.Ile192=)
c.642C>T (p.Ile214=)
c.651C>T (p.Ile217=)
1g.21570320T>ACA338879897ALPLc.808T>A (p.Trp270Arg)
c.18T>A
c.577T>A (p.Trp193Arg)
c.643T>A (p.Trp215Arg)
c.652T>A (p.Trp218Arg)
1g.21570320T>CCA338879899ALPLc.808T>C (p.Trp270Arg)
c.18T>C
c.577T>C (p.Trp193Arg)
c.643T>C (p.Trp215Arg)
c.652T>C (p.Trp218Arg)
1g.21570320T>GCA338879901ALPLc.808T>G (p.Trp270Gly)
c.18T>G
c.577T>G (p.Trp193Gly)
c.643T>G (p.Trp215Gly)
c.652T>G (p.Trp218Gly)
1g.21570321G>ACA274277ALPLc.809G>A (p.Trp270Ter)
c.19G>A
c.578G>A (p.Trp193Ter)
c.644G>A (p.Trp215Ter)
c.653G>A (p.Trp218Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21570321G>CCA338879903ALPLc.809G>C (p.Trp270Ser)
c.19G>C
c.578G>C (p.Trp193Ser)
c.644G>C (p.Trp215Ser)
c.653G>C (p.Trp218Ser)
1g.21570321G=CA1158016959ALPLc.809G= (p.Trp270=)
c.19G=
c.578G= (p.Trp193=)
c.644G= (p.Trp215=)
c.653G= (p.Trp218=)
1g.21570321G>TCA338879904ALPLc.809G>T (p.Trp270Leu)
c.19G>T
c.578G>T (p.Trp193Leu)
c.644G>T (p.Trp215Leu)
c.653G>T (p.Trp218Leu)
1g.21570322G>ACA338879905ALPLc.810G>A (p.Trp270Ter)
c.20G>A
c.579G>A (p.Trp193Ter)
c.645G>A (p.Trp215Ter)
c.654G>A (p.Trp218Ter)
 ClinVar dbSNP
1g.21570322G>CCA338879906ALPLc.810G>C (p.Trp270Cys)
c.20G>C
c.579G>C (p.Trp193Cys)
c.645G>C (p.Trp215Cys)
c.654G>C (p.Trp218Cys)
1g.21570322G=CA1158016960ALPLc.810G= (p.Trp270=)
c.20G=
c.579G= (p.Trp193=)
c.645G= (p.Trp215=)
c.654G= (p.Trp218=)
1g.21570322G>TCA338879907ALPLc.810G>T (p.Trp270Cys)
c.20G>T
c.579G>T (p.Trp193Cys)
c.645G>T (p.Trp215Cys)
c.654G>T (p.Trp218Cys)
1g.21570323A>CCA338879910ALPLc.811A>C (p.Asn271His)
c.21A>C
c.580A>C (p.Asn194His)
c.646A>C (p.Asn216His)
c.655A>C (p.Asn219His)
1g.21570323A>GCA338879909ALPLc.811A>G (p.Asn271Asp)
c.21A>G
c.580A>G (p.Asn194Asp)
c.646A>G (p.Asn216Asp)
c.655A>G (p.Asn219Asp)
1g.21570323A>TCA338879908ALPLc.811A>T (p.Asn271Tyr)
c.21A>T
c.580A>T (p.Asn194Tyr)
c.646A>T (p.Asn216Tyr)
c.655A>T (p.Asn219Tyr)
1g.21570324A>CCA338879911ALPLc.812A>C (p.Asn271Thr)
c.22A>C
c.581A>C (p.Asn194Thr)
c.647A>C (p.Asn216Thr)
c.656A>C (p.Asn219Thr)
1g.21570324A>GCA338879913ALPLc.812A>G (p.Asn271Ser)
c.22A>G
c.581A>G (p.Asn194Ser)
c.647A>G (p.Asn216Ser)
c.656A>G (p.Asn219Ser)
 gnomAD v4
1g.21570324A>TCA338879912ALPLc.812A>T (p.Asn271Ile)
c.22A>T
c.581A>T (p.Asn194Ile)
c.647A>T (p.Asn216Ile)
c.656A>T (p.Asn219Ile)
1g.21570325C>ACA338879914ALPLc.813C>A (p.Asn271Lys)
c.23C>A
c.582C>A (p.Asn194Lys)
c.648C>A (p.Asn216Lys)
c.657C>A (p.Asn219Lys)
1g.21570325C>GCA338879915ALPLc.813C>G (p.Asn271Lys)
c.23C>G
c.582C>G (p.Asn194Lys)
c.648C>G (p.Asn216Lys)
c.657C>G (p.Asn219Lys)
1g.21570325C>TCA416530896ALPLc.813C>T (p.Asn271=)
c.23C>T
c.582C>T (p.Asn194=)
c.648C>T (p.Asn216=)
c.657C>T (p.Asn219=)
 ClinVar gnomAD v4
1g.21570326delCA2574253164ALPLc.814del (p.Arg272AlafsTer5)
c.24del
c.583del (p.Arg195AlafsTer5)
c.649del (p.Arg217AlafsTer5)
c.658del (p.Arg220AlafsTer5)
 ClinVar gnomAD v4
1g.21570326C>ACA338879916ALPLc.814C>A (p.Arg272Ser)
c.24C>A
c.583C>A (p.Arg195Ser)
c.649C>A (p.Arg217Ser)
c.658C>A (p.Arg220Ser)
 dbSNP gnomAD v4
1g.21570326C=CA1141580642ALPLc.814C= (p.Arg272=)
c.24C=
c.583C= (p.Arg195=)
c.649C= (p.Arg217=)
c.658C= (p.Arg220=)
1g.21570326C>GCA338879917ALPLc.814C>G (p.Arg272Gly)
c.24C>G
c.583C>G (p.Arg195Gly)
c.649C>G (p.Arg217Gly)
c.658C>G (p.Arg220Gly)
1g.21570326C>TCA256936ALPLc.814C>T (p.Arg272Cys)
c.24C>T
c.583C>T (p.Arg195Cys)
c.649C>T (p.Arg217Cys)
c.658C>T (p.Arg220Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570327G>ACA666626ALPLc.815G>A (p.Arg272His)
c.25G>A
c.584G>A (p.Arg195His)
c.650G>A (p.Arg217His)
c.659G>A (p.Arg220His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21570327G>CCA338879918ALPLc.815G>C (p.Arg272Pro)
c.25G>C
c.584G>C (p.Arg195Pro)
c.650G>C (p.Arg217Pro)
c.659G>C (p.Arg220Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.21570327G=CA1158016961ALPLc.815G= (p.Arg272=)
c.25G=
c.584G= (p.Arg195=)
c.650G= (p.Arg217=)
c.659G= (p.Arg220=)
1g.21570327G>TCA666625ALPLc.815G>T (p.Arg272Leu)
c.25G>T
c.584G>T (p.Arg195Leu)
c.650G>T (p.Arg217Leu)
c.659G>T (p.Arg220Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21570328C>ACA416530902ALPLc.816C>A (p.Arg272=)
c.26C>A
c.585C>A (p.Arg195=)
c.651C>A (p.Arg217=)
c.660C>A (p.Arg220=)
1g.21570328C>GCA416530904ALPLc.816C>G (p.Arg272=)
c.26C>G
c.585C>G (p.Arg195=)
c.651C>G (p.Arg217=)
c.660C>G (p.Arg220=)
1g.21570328C>TCA416530906ALPLc.816C>T (p.Arg272=)
c.26C>T
c.585C>T (p.Arg195=)
c.651C>T (p.Arg217=)
c.660C>T (p.Arg220=)
1g.21570329A=CA1158016962ALPLc.817A= (p.Thr273=)
c.27A=
c.586A= (p.Thr196=)
c.652A= (p.Thr218=)
c.661A= (p.Thr221=)
1g.21570329A>CCA338879919ALPLc.817A>C (p.Thr273Pro)
c.27A>C
c.586A>C (p.Thr196Pro)
c.652A>C (p.Thr218Pro)
c.661A>C (p.Thr221Pro)
 dbSNP gnomAD v4
1g.21570329A>GCA338879921ALPLc.817A>G (p.Thr273Ala)
c.27A>G
c.586A>G (p.Thr196Ala)
c.652A>G (p.Thr218Ala)
c.661A>G (p.Thr221Ala)
1g.21570329A>TCA338879920ALPLc.817A>T (p.Thr273Ser)
c.27A>T
c.586A>T (p.Thr196Ser)
c.652A>T (p.Thr218Ser)
c.661A>T (p.Thr221Ser)
1g.21570330C>ACA338879922ALPLc.818C>A (p.Thr273Lys)
c.28C>A
c.587C>A (p.Thr196Lys)
c.653C>A (p.Thr218Lys)
c.662C>A (p.Thr221Lys)
1g.21570330C=CA1142237806ALPLc.818C= (p.Thr273=)
c.28C=
c.587C= (p.Thr196=)
c.653C= (p.Thr218=)
c.662C= (p.Thr221=)
1g.21570330C>GCA338879923ALPLc.818C>G (p.Thr273Arg)
c.28C>G
c.587C>G (p.Thr196Arg)
c.653C>G (p.Thr218Arg)
c.662C>G (p.Thr221Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21570330C>TCA666627ALPLc.818C>T (p.Thr273Met)
c.28C>T
c.587C>T (p.Thr196Met)
c.653C>T (p.Thr218Met)
c.662C>T (p.Thr221Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570331G>ACA666628ALPLc.819G>A (p.Thr273=)
c.29G>A
c.588G>A (p.Thr196=)
c.654G>A (p.Thr218=)
c.663G>A (p.Thr221=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570331G>CCA416530912ALPLc.819G>C (p.Thr273=)
c.29G>C
c.588G>C (p.Thr196=)
c.654G>C (p.Thr218=)
c.663G>C (p.Thr221=)
1g.21570331G=CA1143848998ALPLc.819G= (p.Thr273=)
c.29G=
c.588G= (p.Thr196=)
c.654G= (p.Thr218=)
c.663G= (p.Thr221=)
1g.21570331G>TCA416530914ALPLc.819G>T (p.Thr273=)
c.29G>T
c.588G>T (p.Thr196=)
c.654G>T (p.Thr218=)
c.663G>T (p.Thr221=)
 dbSNP
1g.21570332G>ACA338879924ALPLc.820G>A (p.Glu274Lys)
c.30G>A
c.589G>A (p.Glu197Lys)
c.655G>A (p.Glu219Lys)
c.664G>A (p.Glu222Lys)
 gnomAD v4 COSMIC
1g.21570332G>CCA338879925ALPLc.820G>C (p.Glu274Gln)
c.30G>C
c.589G>C (p.Glu197Gln)
c.655G>C (p.Glu219Gln)
c.664G>C (p.Glu222Gln)
1g.21570332G>TCA338879926ALPLc.820G>T (p.Glu274Ter)
c.30G>T
c.589G>T (p.Glu197Ter)
c.655G>T (p.Glu219Ter)
c.664G>T (p.Glu222Ter)
1g.21570332_21570333delinsGACA1158016963ALPLc.820_821delinsGA (p.Glu274=)
c.30_31delinsGA
c.589_590delinsGA (p.Glu197=)
c.655_656delinsGA (p.Glu219=)
c.664_665delinsGA (p.Glu222=)
1g.21570333A>CCA338879927ALPLc.821A>C (p.Glu274Ala)
c.31A>C
c.590A>C (p.Glu197Ala)
c.656A>C (p.Glu219Ala)
c.665A>C (p.Glu222Ala)
1g.21570333A>GCA338879928ALPLc.821A>G (p.Glu274Gly)
c.31A>G
c.590A>G (p.Glu197Gly)
c.656A>G (p.Glu219Gly)
c.665A>G (p.Glu222Gly)
1g.21570333A>TCA338879929ALPLc.821A>T (p.Glu274Val)
c.31A>T
c.590A>T (p.Glu197Val)
c.656A>T (p.Glu219Val)
c.665A>T (p.Glu222Val)
1g.21570334delCA666629ALPLc.822del (p.Glu274AspfsTer3)
c.32del
c.591del (p.Glu197AspfsTer3)
c.657del (p.Glu219AspfsTer3)
c.666del (p.Glu222AspfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21570334A>CCA338879930ALPLc.822A>C (p.Glu274Asp)
c.32A>C
c.591A>C (p.Glu197Asp)
c.657A>C (p.Glu219Asp)
c.666A>C (p.Glu222Asp)
1g.21570334A>GCA416530922ALPLc.822A>G (p.Glu274=)
c.32A>G
c.591A>G (p.Glu197=)
c.657A>G (p.Glu219=)
c.666A>G (p.Glu222=)
1g.21570334A>TCA338879931ALPLc.822A>T (p.Glu274Asp)
c.32A>T
c.591A>T (p.Glu197Asp)
c.657A>T (p.Glu219Asp)
c.666A>T (p.Glu222Asp)
 ClinVar
1g.21570334_21570335delCA2697552245ALPLc.822_823del (p.Glu274AspfsTer5)
c.32_33del
c.591_592del (p.Glu197AspfsTer5)
c.657_658del (p.Glu219AspfsTer5)
c.666_667del (p.Glu222AspfsTer5)
 ClinVar
1g.21570335C>ACA338879933ALPLc.823C>A (p.Leu275Ile)
c.33C>A
c.592C>A (p.Leu198Ile)
c.658C>A (p.Leu220Ile)
c.667C>A (p.Leu223Ile)
1g.21570335C=CA1149135273ALPLc.823C= (p.Leu275=)
c.33C=
c.592C= (p.Leu198=)
c.658C= (p.Leu220=)
c.667C= (p.Leu223=)
1g.21570335C>GCA666630ALPLc.823C>G (p.Leu275Val)
c.33C>G
c.592C>G (p.Leu198Val)
c.658C>G (p.Leu220Val)
c.667C>G (p.Leu223Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21570335C>TCA338879932ALPLc.823C>T (p.Leu275Phe)
c.33C>T
c.592C>T (p.Leu198Phe)
c.658C>T (p.Leu220Phe)
c.667C>T (p.Leu223Phe)
 ClinVar gnomAD v4
1g.21570336T>ACA338879934ALPLc.824T>A (p.Leu275His)
c.34T>A
c.593T>A (p.Leu198His)
c.659T>A (p.Leu220His)
c.668T>A (p.Leu223His)
1g.21570336T>CCA338879935ALPLc.824T>C (p.Leu275Pro)
c.34T>C
c.593T>C (p.Leu198Pro)
c.659T>C (p.Leu220Pro)
c.668T>C (p.Leu223Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21570336T>GCA338879936ALPLc.824T>G (p.Leu275Arg)
c.34T>G
c.593T>G (p.Leu198Arg)
c.659T>G (p.Leu220Arg)
c.668T>G (p.Leu223Arg)
1g.21570336T=CA1158016964ALPLc.824T= (p.Leu275=)
c.34T=
c.593T= (p.Leu198=)
c.659T= (p.Leu220=)
c.668T= (p.Leu223=)
1g.21570337C>ACA416530928ALPLc.825C>A (p.Leu275=)
c.35C>A
c.594C>A (p.Leu198=)
c.660C>A (p.Leu220=)
c.669C>A (p.Leu223=)
1g.21570337C>GCA416530930ALPLc.825C>G (p.Leu275=)
c.35C>G
c.594C>G (p.Leu198=)
c.660C>G (p.Leu220=)
c.669C>G (p.Leu223=)
1g.21570337C>TCA416530932ALPLc.825C>T (p.Leu275=)
c.35C>T
c.594C>T (p.Leu198=)
c.660C>T (p.Leu220=)
c.669C>T (p.Leu223=)
1g.21570338C>ACA338879937ALPLc.826C>A (p.Leu276Met)
c.36C>A
c.595C>A (p.Leu199Met)
c.661C>A (p.Leu221Met)
c.670C>A (p.Leu224Met)
1g.21570338C=CA1158016965ALPLc.826C= (p.Leu276=)
c.36C=
c.595C= (p.Leu199=)
c.661C= (p.Leu221=)
c.670C= (p.Leu224=)
1g.21570338C>GCA338879938ALPLc.826C>G (p.Leu276Val)
c.36C>G
c.595C>G (p.Leu199Val)
c.661C>G (p.Leu221Val)
c.670C>G (p.Leu224Val)
 gnomAD v4
1g.21570338C>TCA416530934ALPLc.826C>T (p.Leu276=)
c.36C>T
c.595C>T (p.Leu199=)
c.661C>T (p.Leu221=)
c.670C>T (p.Leu224=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21570339T>ACA338879939ALPLc.827T>A (p.Leu276Gln)
c.37T>A
c.596T>A (p.Leu199Gln)
c.662T>A (p.Leu221Gln)
c.671T>A (p.Leu224Gln)
1g.21570339T>CCA338879940ALPLc.827T>C (p.Leu276Pro)
c.37T>C
c.596T>C (p.Leu199Pro)
c.662T>C (p.Leu221Pro)
c.671T>C (p.Leu224Pro)
 ClinVar dbSNP
1g.21570339T>GCA338879941ALPLc.827T>G (p.Leu276Arg)
c.37T>G
c.596T>G (p.Leu199Arg)
c.662T>G (p.Leu221Arg)
c.671T>G (p.Leu224Arg)
1g.21570339T=CA1158016966ALPLc.827T= (p.Leu276=)
c.37T=
c.596T= (p.Leu199=)
c.662T= (p.Leu221=)
c.671T= (p.Leu224=)
1g.21570340G>ACA416530940ALPLc.828G>A (p.Leu276=)
c.38G>A
c.597G>A (p.Leu199=)
c.663G>A (p.Leu221=)
c.672G>A (p.Leu224=)
1g.21570340G>CCA416530939ALPLc.828G>C (p.Leu276=)
c.38G>C
c.597G>C (p.Leu199=)
c.663G>C (p.Leu221=)
c.672G>C (p.Leu224=)
1g.21570340G>TCA416530942ALPLc.828G>T (p.Leu276=)
c.38G>T
c.597G>T (p.Leu199=)
c.663G>T (p.Leu221=)
c.672G>T (p.Leu224=)
1g.21570341A>CCA338879942ALPLc.829A>C (p.Thr277Pro)
c.39A>C
c.598A>C (p.Thr200Pro)
c.664A>C (p.Thr222Pro)
c.673A>C (p.Thr225Pro)
1g.21570341A>GCA338879943ALPLc.829A>G (p.Thr277Ala)
c.39A>G
c.598A>G (p.Thr200Ala)
c.664A>G (p.Thr222Ala)
c.673A>G (p.Thr225Ala)
1g.21570341A>TCA338879944ALPLc.829A>T (p.Thr277Ser)
c.39A>T
c.598A>T (p.Thr200Ser)
c.664A>T (p.Thr222Ser)
c.673A>T (p.Thr225Ser)
1g.21570342C>ACA338879947ALPLc.830C>A (p.Thr277Asn)
c.40C>A
c.599C>A (p.Thr200Asn)
c.665C>A (p.Thr222Asn)
c.674C>A (p.Thr225Asn)
1g.21570342C>GCA338879946ALPLc.830C>G (p.Thr277Ser)
c.40C>G
c.599C>G (p.Thr200Ser)
c.665C>G (p.Thr222Ser)
c.674C>G (p.Thr225Ser)
1g.21570342C>TCA338879945ALPLc.830C>T (p.Thr277Ile)
c.40C>T
c.599C>T (p.Thr200Ile)
c.665C>T (p.Thr222Ile)
c.674C>T (p.Thr225Ile)
 gnomAD v3 gnomAD v4
1g.21570343C>ACA416530950ALPLc.831C>A (p.Thr277=)
c.41C>A
c.600C>A (p.Thr200=)
c.666C>A (p.Thr222=)
c.675C>A (p.Thr225=)
 ClinVar dbSNP gnomAD v2
1g.21570343C=CA1158016967ALPLc.831C= (p.Thr277=)
c.41C=
c.600C= (p.Thr200=)
c.666C= (p.Thr222=)
c.675C= (p.Thr225=)
1g.21570343C>GCA416530952ALPLc.831C>G (p.Thr277=)
c.41C>G
c.600C>G (p.Thr200=)
c.666C>G (p.Thr222=)
c.675C>G (p.Thr225=)
 ClinVar dbSNP
1g.21570343C>TCA416530948ALPLc.831C>T (p.Thr277=)
c.41C>T
c.600C>T (p.Thr200=)
c.666C>T (p.Thr222=)
c.675C>T (p.Thr225=)
 ClinVar dbSNP gnomAD v4
1g.21570344C>ACA338879948ALPLc.832C>A (p.Leu278Ile)
c.42C>A
c.601C>A (p.Leu201Ile)
c.667C>A (p.Leu223Ile)
c.676C>A (p.Leu226Ile)
1g.21570344C>GCA338879949ALPLc.832C>G (p.Leu278Val)
c.42C>G
c.601C>G (p.Leu201Val)
c.667C>G (p.Leu223Val)
c.676C>G (p.Leu226Val)
 gnomAD v4
1g.21570344C>TCA338879950ALPLc.832C>T (p.Leu278Phe)
c.42C>T
c.601C>T (p.Leu201Phe)
c.667C>T (p.Leu223Phe)
c.676C>T (p.Leu226Phe)
1g.21570345T>ACA338879951ALPLc.833T>A (p.Leu278His)
c.43T>A
c.602T>A (p.Leu201His)
c.668T>A (p.Leu223His)
c.677T>A (p.Leu226His)
 gnomAD v4
1g.21570345T>CCA338879952ALPLc.833T>C (p.Leu278Pro)
c.43T>C
c.602T>C (p.Leu201Pro)
c.668T>C (p.Leu223Pro)
c.677T>C (p.Leu226Pro)
 ClinVar dbSNP
1g.21570345T>GCA338879953ALPLc.833T>G (p.Leu278Arg)
c.43T>G
c.602T>G (p.Leu201Arg)
c.668T>G (p.Leu223Arg)
c.677T>G (p.Leu226Arg)
1g.21570346T>ACA416530961ALPLc.834T>A (p.Leu278=)
c.44T>A
c.603T>A (p.Leu201=)
c.669T>A (p.Leu223=)
c.678T>A (p.Leu226=)
1g.21570346T>CCA416530957ALPLc.834T>C (p.Leu278=)
c.44T>C
c.603T>C (p.Leu201=)
c.669T>C (p.Leu223=)
c.678T>C (p.Leu226=)
1g.21570346T>GCA416530959ALPLc.834T>G (p.Leu278=)
c.44T>G
c.603T>G (p.Leu201=)
c.669T>G (p.Leu223=)
c.678T>G (p.Leu226=)
1g.21570347G>ACA338879954ALPLc.835G>A (p.Asp279Asn)
c.45G>A
c.604G>A (p.Asp202Asn)
c.670G>A (p.Asp224Asn)
c.679G>A (p.Asp227Asn)
1g.21570347G>CCA338879955ALPLc.835G>C (p.Asp279His)
c.45G>C
c.604G>C (p.Asp202His)
c.670G>C (p.Asp224His)
c.679G>C (p.Asp227His)
 dbSNP gnomAD v2
1g.21570347G=CA1158016968ALPLc.835G= (p.Asp279=)
c.45G=
c.604G= (p.Asp202=)
c.670G= (p.Asp224=)
c.679G= (p.Asp227=)
1g.21570347G>TCA338879956ALPLc.835G>T (p.Asp279Tyr)
c.45G>T
c.604G>T (p.Asp202Tyr)
c.670G>T (p.Asp224Tyr)
c.679G>T (p.Asp227Tyr)
1g.21570348A>CCA338879957ALPLc.836A>C (p.Asp279Ala)
c.46A>C
c.605A>C (p.Asp202Ala)
c.671A>C (p.Asp224Ala)
c.680A>C (p.Asp227Ala)
1g.21570348A>GCA338879958ALPLc.836A>G (p.Asp279Gly)
c.46A>G
c.605A>G (p.Asp202Gly)
c.671A>G (p.Asp224Gly)
c.680A>G (p.Asp227Gly)
1g.21570348A>TCA338879959ALPLc.836A>T (p.Asp279Val)
c.46A>T
c.605A>T (p.Asp202Val)
c.671A>T (p.Asp224Val)
c.680A>T (p.Asp227Val)
1g.21570348_21570349delinsACCA1158016969ALPLc.836_837delinsAC (p.Asp279=)
c.46_47delinsAC
c.605_606delinsAC (p.Asp202=)
c.671_672delinsAC (p.Asp224=)
c.680_681delinsAC (p.Asp227=)
1g.21570349C>ACA338879961ALPLc.837C>A (p.Asp279Glu)
c.47C>A
c.606C>A (p.Asp202Glu)
c.672C>A (p.Asp224Glu)
c.681C>A (p.Asp227Glu)
1g.21570349C=CA1158016970ALPLc.837C= (p.Asp279=)
c.47C=
c.606C= (p.Asp202=)
c.672C= (p.Asp224=)
c.681C= (p.Asp227=)
1g.21570349C>GCA338879960ALPLc.837C>G (p.Asp279Glu)
c.47C>G
c.606C>G (p.Asp202Glu)
c.672C>G (p.Asp224Glu)
c.681C>G (p.Asp227Glu)
1g.21570349C>TCA416530966ALPLc.837C>T (p.Asp279=)
c.47C>T
c.606C>T (p.Asp202=)
c.672C>T (p.Asp224=)
c.681C>T (p.Asp227=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21570353dupCA731320306ALPLc.841dup (p.His281ProfsTer?)
c.51dup
c.610dup (p.His204ProfsTer?)
c.676dup (p.His226ProfsTer?)
c.685dup (p.His229ProfsTer?)
 dbSNP gnomAD v4
1g.21570353delCA16040718ALPLc.841del (p.His281ThrfsTer19)
c.51del
c.610del (p.His204ThrfsTer19)
c.676del (p.His226ThrfsTer19)
c.685del (p.His229ThrfsTer19)
 ClinVar dbSNP
1g.21570350C>ACA666631ALPLc.838C>A (p.Pro280Thr)
c.48C>A
c.607C>A (p.Pro203Thr)
c.673C>A (p.Pro225Thr)
c.682C>A (p.Pro228Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21570350C=CA1158016971ALPLc.838C= (p.Pro280=)
c.48C=
c.607C= (p.Pro203=)
c.673C= (p.Pro225=)
c.682C= (p.Pro228=)
1g.21570350C>GCA338879962ALPLc.838C>G (p.Pro280Ala)
c.48C>G
c.607C>G (p.Pro203Ala)
c.673C>G (p.Pro225Ala)
c.682C>G (p.Pro228Ala)
1g.21570350C>TCA338879963ALPLc.838C>T (p.Pro280Ser)
c.48C>T
c.607C>T (p.Pro203Ser)
c.673C>T (p.Pro225Ser)
c.682C>T (p.Pro228Ser)
1g.21570351C>ACA338879964ALPLc.839C>A (p.Pro280His)
c.49C>A
c.608C>A (p.Pro203His)
c.674C>A (p.Pro225His)
c.683C>A (p.Pro228His)
1g.21570351C>GCA338879965ALPLc.839C>G (p.Pro280Arg)
c.49C>G
c.608C>G (p.Pro203Arg)
c.674C>G (p.Pro225Arg)
c.683C>G (p.Pro228Arg)
 gnomAD v4
1g.21570351C>TCA338879966ALPLc.839C>T (p.Pro280Leu)
c.49C>T
c.608C>T (p.Pro203Leu)
c.674C>T (p.Pro225Leu)
c.683C>T (p.Pro228Leu)
1g.21570352C>ACA416530978ALPLc.840C>A (p.Pro280=)
c.50C>A
c.609C>A (p.Pro203=)
c.675C>A (p.Pro225=)
c.684C>A (p.Pro228=)
1g.21570352C>GCA416530974ALPLc.840C>G (p.Pro280=)
c.50C>G
c.609C>G (p.Pro203=)
c.675C>G (p.Pro225=)
c.684C>G (p.Pro228=)
1g.21570352C>TCA416530976ALPLc.840C>T (p.Pro280=)
c.50C>T
c.609C>T (p.Pro203=)
c.675C>T (p.Pro225=)
c.684C>T (p.Pro228=)
1g.21570353C>ACA338879967ALPLc.841C>A (p.His281Asn)
c.51C>A
c.610C>A (p.His204Asn)
c.676C>A (p.His226Asn)
c.685C>A (p.His229Asn)
1g.21570353C=CA1158016972ALPLc.841C= (p.His281=)
c.51C=
c.610C= (p.His204=)
c.676C= (p.His226=)
c.685C= (p.His229=)
1g.21570353C>GCA338879968ALPLc.841C>G (p.His281Asp)
c.51C>G
c.610C>G (p.His204Asp)
c.676C>G (p.His226Asp)
c.685C>G (p.His229Asp)
 dbSNP gnomAD v4
1g.21570353C>TCA338879969ALPLc.841C>T (p.His281Tyr)
c.51C>T
c.610C>T (p.His204Tyr)
c.676C>T (p.His226Tyr)
c.685C>T (p.His229Tyr)

Number of alleles fetched