Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21575670G=CA1158019248ALPLc.998-63G= (n.998-63G=)
n.267-63G=
c.73-63G=
c.767-63G= (n.767-63G=)
c.833-63G= (n.833-63G=)
c.842-63G= (n.842-63G=)
1g.21575670G>TCA999410601ALPLc.998-63G>T (n.998-63G>T)
n.267-63G>T
c.73-63G>T
c.767-63G>T (n.767-63G>T)
c.833-63G>T (n.833-63G>T)
c.842-63G>T (n.842-63G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21575671G>ACA731315878ALPLc.998-62G>A (n.998-62G>A)
n.267-62G>A
c.73-62G>A
c.767-62G>A (n.767-62G>A)
c.833-62G>A (n.833-62G>A)
c.842-62G>A (n.842-62G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.21575671G>CCA1158019250ALPLc.998-62G>C (n.998-62G>C)
n.267-62G>C
c.73-62G>C
c.767-62G>C (n.767-62G>C)
c.833-62G>C (n.833-62G>C)
c.842-62G>C (n.842-62G>C)
 dbSNP gnomAD v4
1g.21575671G=CA1158019249ALPLc.998-62G= (n.998-62G=)
n.267-62G=
c.73-62G=
c.767-62G= (n.767-62G=)
c.833-62G= (n.833-62G=)
c.842-62G= (n.842-62G=)
1g.21575671G>TCA2643931706ALPLc.998-62G>T (n.998-62G>T)
n.267-62G>T
c.73-62G>T
c.767-62G>T (n.767-62G>T)
c.833-62G>T (n.833-62G>T)
c.842-62G>T (n.842-62G>T)
 gnomAD v4
1g.21575672G=CA1158019251ALPLc.998-61G= (n.998-61G=)
n.267-61G=
c.73-61G=
c.767-61G= (n.767-61G=)
c.833-61G= (n.833-61G=)
c.842-61G= (n.842-61G=)
1g.21575672G>TCA1158019252ALPLc.998-61G>T (n.998-61G>T)
n.267-61G>T
c.73-61G>T
c.767-61G>T (n.767-61G>T)
c.833-61G>T (n.833-61G>T)
c.842-61G>T (n.842-61G>T)
 dbSNP gnomAD v4
1g.21575675G>ACA2574253126ALPLc.998-58G>A (n.998-58G>A)
n.267-58G>A
c.73-58G>A
c.767-58G>A (n.767-58G>A)
c.833-58G>A (n.833-58G>A)
c.842-58G>A (n.842-58G>A)
1g.21575675G>CCA2643931708ALPLc.998-58G>C (n.998-58G>C)
n.267-58G>C
c.73-58G>C
c.767-58G>C (n.767-58G>C)
c.833-58G>C (n.833-58G>C)
c.842-58G>C (n.842-58G>C)
 gnomAD v4
1g.21575675G>TCA2574253127ALPLc.998-58G>T (n.998-58G>T)
n.267-58G>T
c.73-58G>T
c.767-58G>T (n.767-58G>T)
c.833-58G>T (n.833-58G>T)
c.842-58G>T (n.842-58G>T)
1g.21575678delCA2643931707ALPLc.998-55del (n.998-55del)
n.267-55del
c.73-55del
c.767-55del (n.767-55del)
c.833-55del (n.833-55del)
c.842-55del (n.842-55del)
 gnomAD v4
1g.21575676G>ACA2643931709ALPLc.998-57G>A (n.998-57G>A)
n.267-57G>A
c.73-57G>A
c.767-57G>A (n.767-57G>A)
c.833-57G>A (n.833-57G>A)
c.842-57G>A (n.842-57G>A)
 gnomAD v4
1g.21575676G=CA1158019253ALPLc.998-57G= (n.998-57G=)
n.267-57G=
c.73-57G=
c.767-57G= (n.767-57G=)
c.833-57G= (n.833-57G=)
c.842-57G= (n.842-57G=)
1g.21575676G>TCA1158019254ALPLc.998-57G>T (n.998-57G>T)
n.267-57G>T
c.73-57G>T
c.767-57G>T (n.767-57G>T)
c.833-57G>T (n.833-57G>T)
c.842-57G>T (n.842-57G>T)
 dbSNP gnomAD v4
1g.21575678G>ACA19070038ALPLc.998-55G>A (n.998-55G>A)
n.267-55G>A
c.73-55G>A
c.767-55G>A (n.767-55G>A)
c.833-55G>A (n.833-55G>A)
c.842-55G>A (n.842-55G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.21575678G=CA1158019255ALPLc.998-55G= (n.998-55G=)
n.267-55G=
c.73-55G=
c.767-55G= (n.767-55G=)
c.833-55G= (n.833-55G=)
c.842-55G= (n.842-55G=)
1g.21575679A=CA1158019256ALPLc.998-54A= (n.998-54A=)
n.267-54A=
c.73-54A=
c.767-54A= (n.767-54A=)
c.833-54A= (n.833-54A=)
c.842-54A= (n.842-54A=)
1g.21575679A>GCA731315881ALPLc.998-54A>G (n.998-54A>G)
n.267-54A>G
c.73-54A>G
c.767-54A>G (n.767-54A>G)
c.833-54A>G (n.833-54A>G)
c.842-54A>G (n.842-54A>G)
 dbSNP gnomAD v4
1g.21575679_21575680insCTCA2643931710ALPLc.998-54_998-53insCT (n.998-54_998-53insCT)
n.267-54_267-53insCT
c.73-54_73-53insCT
c.767-54_767-53insCT (n.767-54_767-53insCT)
c.833-54_833-53insCT (n.833-54_833-53insCT)
c.842-54_842-53insCT (n.842-54_842-53insCT)
 gnomAD v4
1g.21575679_21575680insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTCA2643931711ALPLc.998-54_998-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.998-54_998-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT)
n.267-54_267-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT
c.73-54_73-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT
c.767-54_767-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.767-54_767-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT)
c.833-54_833-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.833-54_833-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT)
c.842-54_842-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.842-54_842-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT)
 gnomAD v4
1g.21575680G>ACA999410604ALPLc.998-53G>A (n.998-53G>A)
n.267-53G>A
c.73-53G>A
c.767-53G>A (n.767-53G>A)
c.833-53G>A (n.833-53G>A)
c.842-53G>A (n.842-53G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.21575680G=CA1158019257ALPLc.998-53G= (n.998-53G=)
n.267-53G=
c.73-53G=
c.767-53G= (n.767-53G=)
c.833-53G= (n.833-53G=)
c.842-53G= (n.842-53G=)
1g.21575680_21575681insTACTCCTGGGGCCCCA2643931712ALPLc.998-53_998-52insTACTCCTGGGGCCC (n.998-53_998-52insTACTCCTGGGGCCC)
n.267-53_267-52insTACTCCTGGGGCCC
c.73-53_73-52insTACTCCTGGGGCCC
c.767-53_767-52insTACTCCTGGGGCCC (n.767-53_767-52insTACTCCTGGGGCCC)
c.833-53_833-52insTACTCCTGGGGCCC (n.833-53_833-52insTACTCCTGGGGCCC)
c.842-53_842-52insTACTCCTGGGGCCC (n.842-53_842-52insTACTCCTGGGGCCC)
 gnomAD v4
1g.21575681C=CA1158019258ALPLc.998-52C= (n.998-52C=)
n.267-52C=
c.73-52C=
c.767-52C= (n.767-52C=)
c.833-52C= (n.833-52C=)
c.842-52C= (n.842-52C=)
1g.21575681C>TCA999410607ALPLc.998-52C>T (n.998-52C>T)
n.267-52C>T
c.73-52C>T
c.767-52C>T (n.767-52C>T)
c.833-52C>T (n.833-52C>T)
c.842-52C>T (n.842-52C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21575684A=CA1158019259ALPLc.998-49A= (n.998-49A=)
n.267-49A=
c.73-49A=
c.767-49A= (n.767-49A=)
c.833-49A= (n.833-49A=)
c.842-49A= (n.842-49A=)
1g.21575684A>GCA521899890ALPLc.998-49A>G (n.998-49A>G)
n.267-49A>G
c.73-49A>G
c.767-49A>G (n.767-49A>G)
c.833-49A>G (n.833-49A>G)
c.842-49A>G (n.842-49A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575687_21575689delCA2643931713ALPLc.998-46_998-44del (n.998-46_998-44del)
n.267-46_267-44del
c.73-46_73-44del
c.767-46_767-44del (n.767-46_767-44del)
c.833-46_833-44del (n.833-46_833-44del)
c.842-46_842-44del (n.842-46_842-44del)
 gnomAD v4
1g.21575686C>ACA19070044ALPLc.998-47C>A (n.998-47C>A)
n.267-47C>A
c.73-47C>A
c.767-47C>A (n.767-47C>A)
c.833-47C>A (n.833-47C>A)
c.842-47C>A (n.842-47C>A)
 dbSNP
1g.21575686C=CA1144165148ALPLc.998-47C= (n.998-47C=)
n.267-47C=
c.73-47C=
c.767-47C= (n.767-47C=)
c.833-47C= (n.833-47C=)
c.842-47C= (n.842-47C=)
1g.21575695_21575702delCA2574253128ALPLc.998-38_998-31del (n.998-38_998-31del)
n.267-38_267-31del
c.73-38_73-31del
c.767-38_767-31del (n.767-38_767-31del)
c.833-38_833-31del (n.833-38_833-31del)
c.842-38_842-31del (n.842-38_842-31del)
 gnomAD v4
1g.21575689C=CA1158019260ALPLc.998-44C= (n.998-44C=)
n.267-44C=
c.73-44C=
c.767-44C= (n.767-44C=)
c.833-44C= (n.833-44C=)
c.842-44C= (n.842-44C=)
1g.21575689C>TCA666710ALPLc.998-44C>T (n.998-44C>T)
n.267-44C>T
c.73-44C>T
c.767-44C>T (n.767-44C>T)
c.833-44C>T (n.833-44C>T)
c.842-44C>T (n.842-44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575691_21575692delinsTCCA1158019261ALPLc.998-42_998-41delinsTC (n.998-42_998-41delinsTC)
n.267-42_267-41delinsTC
c.73-42_73-41delinsTC
c.767-42_767-41delinsTC (n.767-42_767-41delinsTC)
c.833-42_833-41delinsTC (n.833-42_833-41delinsTC)
c.842-42_842-41delinsTC (n.842-42_842-41delinsTC)
1g.21575695delCA19070048ALPLc.998-38del (n.998-38del)
n.267-38del
c.73-38del
c.767-38del (n.767-38del)
c.833-38del (n.833-38del)
c.842-38del (n.842-38del)
 dbSNP
1g.21575693C>ACA2574253129ALPLc.998-40C>A (n.998-40C>A)
n.267-40C>A
c.73-40C>A
c.767-40C>A (n.767-40C>A)
c.833-40C>A (n.833-40C>A)
c.842-40C>A (n.842-40C>A)
1g.21575693C=CA1158019262ALPLc.998-40C= (n.998-40C=)
n.267-40C=
c.73-40C=
c.767-40C= (n.767-40C=)
c.833-40C= (n.833-40C=)
c.842-40C= (n.842-40C=)
1g.21575693C>TCA521899891ALPLc.998-40C>T (n.998-40C>T)
n.267-40C>T
c.73-40C>T
c.767-40C>T (n.767-40C>T)
c.833-40C>T (n.833-40C>T)
c.842-40C>T (n.842-40C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575694C=CA1144978252ALPLc.998-39C= (n.998-39C=)
n.267-39C=
c.73-39C=
c.767-39C= (n.767-39C=)
c.833-39C= (n.833-39C=)
c.842-39C= (n.842-39C=)
1g.21575694C>GCA666711ALPLc.998-39C>G (n.998-39C>G)
n.267-39C>G
c.73-39C>G
c.767-39C>G (n.767-39C>G)
c.833-39C>G (n.833-39C>G)
c.842-39C>G (n.842-39C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575694C>TCA19070055ALPLc.998-39C>T (n.998-39C>T)
n.267-39C>T
c.73-39C>T
c.767-39C>T (n.767-39C>T)
c.833-39C>T (n.833-39C>T)
c.842-39C>T (n.842-39C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21575695C>ACA2643931714ALPLc.998-38C>A (n.998-38C>A)
n.267-38C>A
c.73-38C>A
c.767-38C>A (n.767-38C>A)
c.833-38C>A (n.833-38C>A)
c.842-38C>A (n.842-38C>A)
 gnomAD v4
1g.21575695C=CA1158019263ALPLc.998-38C= (n.998-38C=)
n.267-38C=
c.73-38C=
c.767-38C= (n.767-38C=)
c.833-38C= (n.833-38C=)
c.842-38C= (n.842-38C=)
1g.21575695C>TCA521899892ALPLc.998-38C>T (n.998-38C>T)
n.267-38C>T
c.73-38C>T
c.767-38C>T (n.767-38C>T)
c.833-38C>T (n.833-38C>T)
c.842-38C>T (n.842-38C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575696T>CCA2643931715ALPLc.998-37T>C (n.998-37T>C)
n.267-37T>C
c.73-37T>C
c.767-37T>C (n.767-37T>C)
c.833-37T>C (n.833-37T>C)
c.842-37T>C (n.842-37T>C)
 gnomAD v4
1g.21575698C>TCA2643931716ALPLc.998-35C>T (n.998-35C>T)
n.267-35C>T
c.73-35C>T
c.767-35C>T (n.767-35C>T)
c.833-35C>T (n.833-35C>T)
c.842-35C>T (n.842-35C>T)
 gnomAD v4
1g.21575699T>CCA2574253131ALPLc.998-34T>C (n.998-34T>C)
n.267-34T>C
c.73-34T>C
c.767-34T>C (n.767-34T>C)
c.833-34T>C (n.833-34T>C)
c.842-34T>C (n.842-34T>C)
1g.21575700C=CA1158019264ALPLc.998-33C= (n.998-33C=)
n.267-33C=
c.73-33C=
c.767-33C= (n.767-33C=)
c.833-33C= (n.833-33C=)
c.842-33C= (n.842-33C=)
1g.21575700C>GCA1158019265ALPLc.998-33C>G (n.998-33C>G)
n.267-33C>G
c.73-33C>G
c.767-33C>G (n.767-33C>G)
c.833-33C>G (n.833-33C>G)
c.842-33C>G (n.842-33C>G)
 dbSNP
1g.21575701C>ACA2643931717ALPLc.998-32C>A (n.998-32C>A)
n.267-32C>A
c.73-32C>A
c.767-32C>A (n.767-32C>A)
c.833-32C>A (n.833-32C>A)
c.842-32C>A (n.842-32C>A)
 gnomAD v4
1g.21575701C>TCA2643931718ALPLc.998-32C>T (n.998-32C>T)
n.267-32C>T
c.73-32C>T
c.767-32C>T (n.767-32C>T)
c.833-32C>T (n.833-32C>T)
c.842-32C>T (n.842-32C>T)
 gnomAD v4
1g.21575702C=CA1143595076ALPLc.998-31C= (n.998-31C=)
n.267-31C=
c.73-31C=
c.767-31C= (n.767-31C=)
c.833-31C= (n.833-31C=)
c.842-31C= (n.842-31C=)
1g.21575702C>GCA666713ALPLc.998-31C>G (n.998-31C>G)
n.267-31C>G
c.73-31C>G
c.767-31C>G (n.767-31C>G)
c.833-31C>G (n.833-31C>G)
c.842-31C>G (n.842-31C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575702C>TCA666712ALPLc.998-31C>T (n.998-31C>T)
n.267-31C>T
c.73-31C>T
c.767-31C>T (n.767-31C>T)
c.833-31C>T (n.833-31C>T)
c.842-31C>T (n.842-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575706C>TCA2643931719ALPLc.998-27C>T (n.998-27C>T)
n.267-27C>T
c.73-27C>T
c.767-27C>T (n.767-27C>T)
c.833-27C>T (n.833-27C>T)
c.842-27C>T (n.842-27C>T)
 gnomAD v4
1g.21575707C=CA1158019266ALPLc.998-26C= (n.998-26C=)
n.267-26C=
c.73-26C=
c.767-26C= (n.767-26C=)
c.833-26C= (n.833-26C=)
c.842-26C= (n.842-26C=)
1g.21575707C>TCA666714ALPLc.998-26C>T (n.998-26C>T)
n.267-26C>T
c.73-26C>T
c.767-26C>T (n.767-26C>T)
c.833-26C>T (n.833-26C>T)
c.842-26C>T (n.842-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575708G>ACA666716ALPLc.998-25G>A (n.998-25G>A)
n.267-25G>A
c.73-25G>A
c.767-25G>A (n.767-25G>A)
c.833-25G>A (n.833-25G>A)
c.842-25G>A (n.842-25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575708G>CCA666715ALPLc.998-25G>C (n.998-25G>C)
n.267-25G>C
c.73-25G>C
c.767-25G>C (n.767-25G>C)
c.833-25G>C (n.833-25G>C)
c.842-25G>C (n.842-25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575708G=CA1158019267ALPLc.998-25G= (n.998-25G=)
n.267-25G=
c.73-25G=
c.767-25G= (n.767-25G=)
c.833-25G= (n.833-25G=)
c.842-25G= (n.842-25G=)
1g.21575709_21575710delinsAGCA1158019268ALPLc.998-24_998-23delinsAG (n.998-24_998-23delinsAG)
n.267-24_267-23delinsAG
c.73-24_73-23delinsAG
c.767-24_767-23delinsAG (n.767-24_767-23delinsAG)
c.833-24_833-23delinsAG (n.833-24_833-23delinsAG)
c.842-24_842-23delinsAG (n.842-24_842-23delinsAG)
1g.21575710G>ACA731315902ALPLc.998-23G>A (n.998-23G>A)
n.267-23G>A
c.73-23G>A
c.767-23G>A (n.767-23G>A)
c.833-23G>A (n.833-23G>A)
c.842-23G>A (n.842-23G>A)
 dbSNP
1g.21575710G=CA1158019269ALPLc.998-23G= (n.998-23G=)
n.267-23G=
c.73-23G=
c.767-23G= (n.767-23G=)
c.833-23G= (n.833-23G=)
c.842-23G= (n.842-23G=)
1g.21575711delCA666717ALPLc.998-22del (n.998-22del)
n.267-22del
c.73-22del
c.767-22del (n.767-22del)
c.833-22del (n.833-22del)
c.842-22del (n.842-22del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575711G>ACA521899893ALPLc.998-22G>A (n.998-22G>A)
n.267-22G>A
c.73-22G>A
c.767-22G>A (n.767-22G>A)
c.833-22G>A (n.833-22G>A)
c.842-22G>A (n.842-22G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.21575711G>CCA2695269505ALPLc.998-22G>C (n.998-22G>C)
n.267-22G>C
c.73-22G>C
c.767-22G>C (n.767-22G>C)
c.833-22G>C (n.833-22G>C)
c.842-22G>C (n.842-22G>C)
 dbSNP
1g.21575711G=CA1158019270ALPLc.998-22G= (n.998-22G=)
n.267-22G=
c.73-22G=
c.767-22G= (n.767-22G=)
c.833-22G= (n.833-22G=)
c.842-22G= (n.842-22G=)
1g.21575712C>TCA2643931721ALPLc.998-21C>T (n.998-21C>T)
n.267-21C>T
c.73-21C>T
c.767-21C>T (n.767-21C>T)
c.833-21C>T (n.833-21C>T)
c.842-21C>T (n.842-21C>T)
 gnomAD v4
1g.21575713delCA2643931720ALPLc.998-20del (n.998-20del)
n.267-20del
c.73-20del
c.767-20del (n.767-20del)
c.833-20del (n.833-20del)
c.842-20del (n.842-20del)
 gnomAD v4
1g.21575712_21575713insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCTCA2550890593ALPLc.998-21_998-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.998-21_998-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT)
n.267-21_267-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT
c.73-21_73-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT
c.767-21_767-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.767-21_767-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT)
c.833-21_833-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.833-21_833-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT)
c.842-21_842-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.842-21_842-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT)
1g.21575718C=CA1158019271ALPLc.998-15C= (n.998-15C=)
n.267-15C=
c.73-15C=
c.767-15C= (n.767-15C=)
c.833-15C= (n.833-15C=)
c.842-15C= (n.842-15C=)
1g.21575718C>TCA1158019272ALPLc.998-15C>T (n.998-15C>T)
n.267-15C>T
c.73-15C>T
c.767-15C>T (n.767-15C>T)
c.833-15C>T (n.833-15C>T)
c.842-15C>T (n.842-15C>T)
 dbSNP gnomAD v4
1g.21575719C=CA1158019273ALPLc.998-14C= (n.998-14C=)
n.267-14C=
c.73-14C=
c.767-14C= (n.767-14C=)
c.833-14C= (n.833-14C=)
c.842-14C= (n.842-14C=)
1g.21575719C>TCA521899894ALPLc.998-14C>T (n.998-14C>T)
n.267-14C>T
c.73-14C>T
c.767-14C>T (n.767-14C>T)
c.833-14C>T (n.833-14C>T)
c.842-14C>T (n.842-14C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575720T>CCA2643931722ALPLc.998-13T>C (n.998-13T>C)
n.267-13T>C
c.73-13T>C
c.767-13T>C (n.767-13T>C)
c.833-13T>C (n.833-13T>C)
c.842-13T>C (n.842-13T>C)
 gnomAD v4
1g.21575720T>GCA999410628ALPLc.998-13T>G (n.998-13T>G)
n.267-13T>G
c.73-13T>G
c.767-13T>G (n.767-13T>G)
c.833-13T>G (n.833-13T>G)
c.842-13T>G (n.842-13T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.21575720T=CA1158019274ALPLc.998-13T= (n.998-13T=)
n.267-13T=
c.73-13T=
c.767-13T= (n.767-13T=)
c.833-13T= (n.833-13T=)
c.842-13T= (n.842-13T=)
1g.21575721_21575722delinsTGCA1158019275ALPLc.998-12_998-11delinsTG (n.998-12_998-11delinsTG)
n.267-12_267-11delinsTG
c.73-12_73-11delinsTG
c.767-12_767-11delinsTG (n.767-12_767-11delinsTG)
c.833-12_833-11delinsTG (n.833-12_833-11delinsTG)
c.842-12_842-11delinsTG (n.842-12_842-11delinsTG)
1g.21575723delCA1158019276ALPLc.998-10del (n.998-10del)
n.267-10del
c.73-10del
c.767-10del (n.767-10del)
c.833-10del (n.833-10del)
c.842-10del (n.842-10del)
 ClinVar dbSNP
1g.21575723G>ACA521899895ALPLc.998-10G>A (n.998-10G>A)
n.267-10G>A
c.73-10G>A
c.767-10G>A (n.767-10G>A)
c.833-10G>A (n.833-10G>A)
c.842-10G>A (n.842-10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575723G>CCA2580061460ALPLc.998-10G>C (n.998-10G>C)
n.267-10G>C
c.73-10G>C
c.767-10G>C (n.767-10G>C)
c.833-10G>C (n.833-10G>C)
c.842-10G>C (n.842-10G>C)
 ClinVar
1g.21575723G=CA1158019277ALPLc.998-10G= (n.998-10G=)
n.267-10G=
c.73-10G=
c.767-10G= (n.767-10G=)
c.833-10G= (n.833-10G=)
c.842-10G= (n.842-10G=)
1g.21575726delCA2574253135ALPLc.998-7del (n.998-7del)
n.267-7del
c.73-7del
c.767-7del (n.767-7del)
c.833-7del (n.833-7del)
c.842-7del (n.842-7del)
1g.21575727C>TCA2573130547ALPLc.998-6C>T (n.998-6C>T)
n.267-6C>T
c.73-6C>T
c.767-6C>T (n.767-6C>T)
c.833-6C>T (n.833-6C>T)
c.842-6C>T (n.842-6C>T)
 ClinVar dbSNP
1g.21575728C=CA1158019278ALPLc.998-5C= (n.998-5C=)
n.267-5C=
c.73-5C=
c.767-5C= (n.767-5C=)
c.833-5C= (n.833-5C=)
c.842-5C= (n.842-5C=)
1g.21575728C>TCA521899896ALPLc.998-5C>T (n.998-5C>T)
n.267-5C>T
c.73-5C>T
c.767-5C>T (n.767-5C>T)
c.833-5C>T (n.833-5C>T)
c.842-5C>T (n.842-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21575729C>ACA2574253136ALPLc.998-4C>A (n.998-4C>A)
n.267-4C>A
c.73-4C>A
c.767-4C>A (n.767-4C>A)
c.833-4C>A (n.833-4C>A)
c.842-4C>A (n.842-4C>A)
1g.21575730A=CA1158019279ALPLc.998-3A= (n.998-3A=)
n.267-3A=
c.73-3A=
c.767-3A= (n.767-3A=)
c.833-3A= (n.833-3A=)
c.842-3A= (n.842-3A=)
1g.21575730A>GCA999410629ALPLc.998-3A>G (n.998-3A>G)
n.267-3A>G
c.73-3A>G
c.767-3A>G (n.767-3A>G)
c.833-3A>G (n.833-3A>G)
c.842-3A>G (n.842-3A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.21575731A=CA1158019280ALPLc.998-2A= (n.998-2A=)
n.267-2A=
c.73-2A=
c.767-2A= (n.767-2A=)
c.833-2A= (n.833-2A=)
c.842-2A= (n.842-2A=)
1g.21575731A>CCA338880922ALPLc.998-2A>C (n.998-2A>C)
n.267-2A>C
c.73-2A>C
c.767-2A>C (n.767-2A>C)
c.833-2A>C (n.833-2A>C)
c.842-2A>C (n.842-2A>C)
 gnomAD v4
1g.21575731A>GCA16040721ALPLc.998-2A>G (n.998-2A>G)
n.267-2A>G
c.73-2A>G
c.767-2A>G (n.767-2A>G)
c.833-2A>G (n.833-2A>G)
c.842-2A>G (n.842-2A>G)
 ClinVar dbSNP gnomAD v4
1g.21575731A>TCA338880925ALPLc.998-2A>T (n.998-2A>T)
n.267-2A>T
c.73-2A>T
c.767-2A>T (n.767-2A>T)
c.833-2A>T (n.833-2A>T)
c.842-2A>T (n.842-2A>T)
1g.21575732G>ACA338880927ALPLc.998-1G>A (n.998-1G>A)
n.267-1G>A
c.73-1G>A
c.767-1G>A (n.767-1G>A)
c.833-1G>A (n.833-1G>A)
c.842-1G>A (n.842-1G>A)
 gnomAD v4 COSMIC
1g.21575732G>CCA338880929ALPLc.998-1G>C (n.998-1G>C)
n.267-1G>C
c.73-1G>C
c.767-1G>C (n.767-1G>C)
c.833-1G>C (n.833-1G>C)
c.842-1G>C (n.842-1G>C)
1g.21575732G>TCA338880931ALPLc.998-1G>T (n.998-1G>T)
n.267-1G>T
c.73-1G>T
c.767-1G>T (n.767-1G>T)
c.833-1G>T (n.833-1G>T)
c.842-1G>T (n.842-1G>T)
1g.21575733G>ACA338880932ALPLc.998G>A (p.Gly333Glu)
n.267G>A
c.73G>A
c.767G>A (p.Gly256Glu)
c.833G>A (p.Gly278Glu)
c.842G>A (p.Gly281Glu)
1g.21575733G>CCA338880934ALPLc.998G>C (p.Gly333Ala)
n.267G>C
c.73G>C
c.767G>C (p.Gly256Ala)
c.833G>C (p.Gly278Ala)
c.842G>C (p.Gly281Ala)
1g.21575733G>TCA338880936ALPLc.998G>T (p.Gly333Val)
n.267G>T
c.73G>T
c.767G>T (p.Gly256Val)
c.833G>T (p.Gly278Val)
c.842G>T (p.Gly281Val)
1g.21575734A=CA1158019281ALPLc.999A= (p.Gly333=)
n.268A=
c.74A=
c.768A= (p.Gly256=)
c.834A= (p.Gly278=)
c.843A= (p.Gly281=)
1g.21575734A>CCA416532761ALPLc.999A>C (p.Gly333=)
n.268A>C
c.74A>C
c.768A>C (p.Gly256=)
c.834A>C (p.Gly278=)
c.843A>C (p.Gly281=)
1g.21575734A>GCA416532760ALPLc.999A>G (p.Gly333=)
n.268A>G
c.74A>G
c.768A>G (p.Gly256=)
c.834A>G (p.Gly278=)
c.843A>G (p.Gly281=)
 ClinVar dbSNP gnomAD v4
1g.21575734A>TCA416532763ALPLc.999A>T (p.Gly333=)
n.268A>T
c.74A>T
c.768A>T (p.Gly256=)
c.834A>T (p.Gly278=)
c.843A>T (p.Gly281=)
1g.21575735G>ACA666718ALPLc.1000G>A (p.Gly334Ser)
n.269G>A
c.75G>A
c.769G>A (p.Gly257Ser)
c.835G>A (p.Gly279Ser)
c.844G>A (p.Gly282Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575735G>CCA338880940ALPLc.1000G>C (p.Gly334Arg)
n.269G>C
c.75G>C
c.769G>C (p.Gly257Arg)
c.835G>C (p.Gly279Arg)
c.844G>C (p.Gly282Arg)
1g.21575735G=CA1158019282ALPLc.1000G= (p.Gly334=)
n.269G=
c.75G=
c.769G= (p.Gly257=)
c.835G= (p.Gly279=)
c.844G= (p.Gly282=)
1g.21575735G>TCA338880938ALPLc.1000G>T (p.Gly334Cys)
n.269G>T
c.75G>T
c.769G>T (p.Gly257Cys)
c.835G>T (p.Gly279Cys)
c.844G>T (p.Gly282Cys)
1g.21575736G>ACA256929ALPLc.1001G>A (p.Gly334Asp)
n.270G>A
c.76G>A
c.770G>A (p.Gly257Asp)
c.836G>A (p.Gly279Asp)
c.845G>A (p.Gly282Asp)
 ClinVar dbSNP gnomAD v4
1g.21575736G>CCA338880943ALPLc.1001G>C (p.Gly334Ala)
n.270G>C
c.76G>C
c.770G>C (p.Gly257Ala)
c.836G>C (p.Gly279Ala)
c.845G>C (p.Gly282Ala)
1g.21575736G=CA1141580646ALPLc.1001G= (p.Gly334=)
n.270G=
c.76G=
c.770G= (p.Gly257=)
c.836G= (p.Gly279=)
c.845G= (p.Gly282=)
1g.21575736G>TCA338880944ALPLc.1001G>T (p.Gly334Val)
n.270G>T
c.76G>T
c.770G>T (p.Gly257Val)
c.836G>T (p.Gly279Val)
c.845G>T (p.Gly282Val)
 COSMIC
1g.21575737C>ACA416532768ALPLc.1002C>A (p.Gly334=)
n.271C>A
c.77C>A
c.771C>A (p.Gly257=)
c.837C>A (p.Gly279=)
c.846C>A (p.Gly282=)
 dbSNP
1g.21575737C=CA1143708664ALPLc.1002C= (p.Gly334=)
n.271C=
c.77C=
c.771C= (p.Gly257=)
c.837C= (p.Gly279=)
c.846C= (p.Gly282=)
1g.21575737C>GCA416532769ALPLc.1002C>G (p.Gly334=)
n.271C>G
c.77C>G
c.771C>G (p.Gly257=)
c.837C>G (p.Gly279=)
c.846C>G (p.Gly282=)
1g.21575737C>TCA666719ALPLc.1002C>T (p.Gly334=)
n.271C>T
c.77C>T
c.771C>T (p.Gly257=)
c.837C>T (p.Gly279=)
c.846C>T (p.Gly282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575738A>CCA416532771ALPLc.1003A>C (p.Arg335=)
n.272A>C
c.78A>C
c.772A>C (p.Arg258=)
c.838A>C (p.Arg280=)
c.847A>C (p.Arg283=)
 ClinVar
1g.21575738A>GCA338880945ALPLc.1003A>G (p.Arg335Gly)
n.272A>G
c.78A>G
c.772A>G (p.Arg258Gly)
c.838A>G (p.Arg280Gly)
c.847A>G (p.Arg283Gly)
 gnomAD v4
1g.21575738A>TCA338880946ALPLc.1003A>T (p.Arg335Ter)
n.272A>T
c.78A>T
c.772A>T (p.Arg258Ter)
c.838A>T (p.Arg280Ter)
c.847A>T (p.Arg283Ter)
1g.21575739G>ACA338880951ALPLc.1004G>A (p.Arg335Lys)
n.273G>A
c.79G>A
c.773G>A (p.Arg258Lys)
c.839G>A (p.Arg280Lys)
c.848G>A (p.Arg283Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575739G>CCA16603569ALPLc.1004G>C (p.Arg335Thr)
n.273G>C
c.79G>C
c.773G>C (p.Arg258Thr)
c.839G>C (p.Arg280Thr)
c.848G>C (p.Arg283Thr)
 ClinVar dbSNP gnomAD v4
1g.21575739G=CA1158019283ALPLc.1004G= (p.Arg335=)
n.273G=
c.79G=
c.773G= (p.Arg258=)
c.839G= (p.Arg280=)
c.848G= (p.Arg283=)
1g.21575739G>TCA338880949ALPLc.1004G>T (p.Arg335Ile)
n.273G>T
c.79G>T
c.773G>T (p.Arg258Ile)
c.839G>T (p.Arg280Ile)
c.848G>T (p.Arg283Ile)
1g.21575740A>CCA338880952ALPLc.1005A>C (p.Arg335Ser)
n.274A>C
c.80A>C
c.774A>C (p.Arg258Ser)
c.840A>C (p.Arg280Ser)
c.849A>C (p.Arg283Ser)
1g.21575740A>GCA416532780ALPLc.1005A>G (p.Arg335=)
n.274A>G
c.80A>G
c.774A>G (p.Arg258=)
c.840A>G (p.Arg280=)
c.849A>G (p.Arg283=)
1g.21575740A>TCA338880954ALPLc.1005A>T (p.Arg335Ser)
n.274A>T
c.80A>T
c.774A>T (p.Arg258Ser)
c.840A>T (p.Arg280Ser)
c.849A>T (p.Arg283Ser)
1g.21575741A>CCA338880956ALPLc.1006A>C (p.Ile336Leu)
n.275A>C
c.81A>C
c.775A>C (p.Ile259Leu)
c.841A>C (p.Ile281Leu)
c.850A>C (p.Ile284Leu)
1g.21575741A>GCA338880957ALPLc.1006A>G (p.Ile336Val)
n.275A>G
c.81A>G
c.775A>G (p.Ile259Val)
c.841A>G (p.Ile281Val)
c.850A>G (p.Ile284Val)
1g.21575741A>TCA338880959ALPLc.1006A>T (p.Ile336Phe)
n.275A>T
c.81A>T
c.775A>T (p.Ile259Phe)
c.841A>T (p.Ile281Phe)
c.850A>T (p.Ile284Phe)
1g.21575742T>ACA338880961ALPLc.1007T>A (p.Ile336Asn)
n.276T>A
c.82T>A
c.776T>A (p.Ile259Asn)
c.842T>A (p.Ile281Asn)
c.851T>A (p.Ile284Asn)
1g.21575742T>CCA338880963ALPLc.1007T>C (p.Ile336Thr)
n.276T>C
c.82T>C
c.776T>C (p.Ile259Thr)
c.842T>C (p.Ile281Thr)
c.851T>C (p.Ile284Thr)
 ClinVar dbSNP
1g.21575742T>GCA338880962ALPLc.1007T>G (p.Ile336Ser)
n.276T>G
c.82T>G
c.776T>G (p.Ile259Ser)
c.842T>G (p.Ile281Ser)
c.851T>G (p.Ile284Ser)
1g.21575742T=CA1158019284ALPLc.1007T= (p.Ile336=)
n.276T=
c.82T=
c.776T= (p.Ile259=)
c.842T= (p.Ile281=)
c.851T= (p.Ile284=)
1g.21575743T>ACA416532790ALPLc.1008T>A (p.Ile336=)
n.277T>A
c.83T>A
c.777T>A (p.Ile259=)
c.843T>A (p.Ile281=)
c.852T>A (p.Ile284=)
 gnomAD v4
1g.21575743T>CCA416532792ALPLc.1008T>C (p.Ile336=)
n.277T>C
c.83T>C
c.777T>C (p.Ile259=)
c.843T>C (p.Ile281=)
c.852T>C (p.Ile284=)
1g.21575743T>GCA338880965ALPLc.1008T>G (p.Ile336Met)
n.277T>G
c.83T>G
c.777T>G (p.Ile259Met)
c.843T>G (p.Ile281Met)
c.852T>G (p.Ile284Met)
1g.21575744G>ACA338880967ALPLc.1009G>A (p.Asp337Asn)
n.278G>A
c.84G>A
c.778G>A (p.Asp260Asn)
c.844G>A (p.Asp282Asn)
c.853G>A (p.Asp285Asn)
1g.21575744G>CCA338880969ALPLc.1009G>C (p.Asp337His)
n.278G>C
c.84G>C
c.778G>C (p.Asp260His)
c.844G>C (p.Asp282His)
c.853G>C (p.Asp285His)
1g.21575744G>TCA338880971ALPLc.1009G>T (p.Asp337Tyr)
n.278G>T
c.84G>T
c.778G>T (p.Asp260Tyr)
c.844G>T (p.Asp282Tyr)
c.853G>T (p.Asp285Tyr)
1g.21575745A=CA1158019285ALPLc.1010A= (p.Asp337=)
n.279A=
c.85A=
c.779A= (p.Asp260=)
c.845A= (p.Asp282=)
c.854A= (p.Asp285=)
1g.21575745A>CCA338880973ALPLc.1010A>C (p.Asp337Ala)
n.279A>C
c.85A>C
c.779A>C (p.Asp260Ala)
c.845A>C (p.Asp282Ala)
c.854A>C (p.Asp285Ala)
1g.21575745A>GCA338880974ALPLc.1010A>G (p.Asp337Gly)
n.279A>G
c.85A>G
c.779A>G (p.Asp260Gly)
c.845A>G (p.Asp282Gly)
c.854A>G (p.Asp285Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21575745A>TCA338880975ALPLc.1010A>T (p.Asp337Val)
n.279A>T
c.85A>T
c.779A>T (p.Asp260Val)
c.845A>T (p.Asp282Val)
c.854A>T (p.Asp285Val)
1g.21575746C>ACA338880977ALPLc.1011C>A (p.Asp337Glu)
n.280C>A
c.86C>A
c.780C>A (p.Asp260Glu)
c.846C>A (p.Asp282Glu)
c.855C>A (p.Asp285Glu)
1g.21575746C>GCA338880979ALPLc.1011C>G (p.Asp337Glu)
n.280C>G
c.86C>G
c.780C>G (p.Asp260Glu)
c.846C>G (p.Asp282Glu)
c.855C>G (p.Asp285Glu)
1g.21575746C>TCA416532810ALPLc.1011C>T (p.Asp337=)
n.280C>T
c.86C>T
c.780C>T (p.Asp260=)
c.846C>T (p.Asp282=)
c.855C>T (p.Asp285=)
 ClinVar dbSNP
1g.21575747C>ACA338880980ALPLc.1012C>A (p.His338Asn)
n.281C>A
c.87C>A
c.781C>A (p.His261Asn)
c.847C>A (p.His283Asn)
c.856C>A (p.His286Asn)
1g.21575747C>GCA338880981ALPLc.1012C>G (p.His338Asp)
n.281C>G
c.87C>G
c.781C>G (p.His261Asp)
c.847C>G (p.His283Asp)
c.856C>G (p.His286Asp)
1g.21575747C>TCA338880983ALPLc.1012C>T (p.His338Tyr)
n.281C>T
c.87C>T
c.781C>T (p.His261Tyr)
c.847C>T (p.His283Tyr)
c.856C>T (p.His286Tyr)
1g.21575748A>CCA338880985ALPLc.1013A>C (p.His338Pro)
n.282A>C
c.88A>C
c.782A>C (p.His261Pro)
c.848A>C (p.His283Pro)
c.857A>C (p.His286Pro)
1g.21575748A>GCA338880988ALPLc.1013A>G (p.His338Arg)
n.282A>G
c.88A>G
c.782A>G (p.His261Arg)
c.848A>G (p.His283Arg)
c.857A>G (p.His286Arg)
1g.21575748A>TCA338880987ALPLc.1013A>T (p.His338Leu)
n.282A>T
c.88A>T
c.782A>T (p.His261Leu)
c.848A>T (p.His283Leu)
c.857A>T (p.His286Leu)
1g.21575749C>ACA338880989ALPLc.1014C>A (p.His338Gln)
n.283C>A
c.89C>A
c.783C>A (p.His261Gln)
c.849C>A (p.His283Gln)
c.858C>A (p.His286Gln)
1g.21575749C=CA1142193131ALPLc.1014C= (p.His338=)
n.283C=
c.89C=
c.783C= (p.His261=)
c.849C= (p.His283=)
c.858C= (p.His286=)
1g.21575749C>GCA338880991ALPLc.1014C>G (p.His338Gln)
n.283C>G
c.89C>G
c.783C>G (p.His261Gln)
c.849C>G (p.His283Gln)
c.858C>G (p.His286Gln)
1g.21575749C>TCA666720ALPLc.1014C>T (p.His338=)
n.283C>T
c.89C>T
c.783C>T (p.His261=)
c.849C>T (p.His283=)
c.858C>T (p.His286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575749dupCA913072854ALPLc.1014dup (p.Gly339ArgfsTer4)
n.283dup
c.89dup
c.783dup (p.Gly262ArgfsTer4)
c.849dup (p.Gly284ArgfsTer4)
c.858dup (p.Gly287ArgfsTer4)
1g.21575750G>ACA338880993ALPLc.1015G>A (p.Gly339Arg)
n.284G>A
c.90G>A
c.784G>A (p.Gly262Arg)
c.850G>A (p.Gly284Arg)
c.859G>A (p.Gly287Arg)
 ClinVar dbSNP gnomAD v4
1g.21575750G>CCA338880994ALPLc.1015G>C (p.Gly339Arg)
n.284G>C
c.90G>C
c.784G>C (p.Gly262Arg)
c.850G>C (p.Gly284Arg)
c.859G>C (p.Gly287Arg)
1g.21575750G>TCA338880996ALPLc.1015G>T (p.Gly339Trp)
n.284G>T
c.90G>T
c.784G>T (p.Gly262Trp)
c.850G>T (p.Gly284Trp)
c.859G>T (p.Gly287Trp)
1g.21575752dupCA666721ALPLc.1017dup (p.His340AlafsTer3)
n.286dup
c.92dup
c.786dup (p.His263AlafsTer3)
c.852dup (p.His285AlafsTer3)
c.861dup (p.His288AlafsTer3)
 ClinVar dbSNP ExAC gnomAD v2
1g.21575751G>ACA338880998ALPLc.1016G>A (p.Gly339Glu)
n.285G>A
c.91G>A
c.785G>A (p.Gly262Glu)
c.851G>A (p.Gly284Glu)
c.860G>A (p.Gly287Glu)
 ClinVar
1g.21575751G>CCA338880999ALPLc.1016G>C (p.Gly339Ala)
n.285G>C
c.91G>C
c.785G>C (p.Gly262Ala)
c.851G>C (p.Gly284Ala)
c.860G>C (p.Gly287Ala)
1g.21575751G>TCA338881000ALPLc.1016G>T (p.Gly339Val)
n.285G>T
c.91G>T
c.785G>T (p.Gly262Val)
c.851G>T (p.Gly284Val)
c.860G>T (p.Gly287Val)
1g.21575752G>ACA416532836ALPLc.1017G>A (p.Gly339=)
n.286G>A
c.92G>A
c.786G>A (p.Gly262=)
c.852G>A (p.Gly284=)
c.861G>A (p.Gly287=)
 ClinVar
1g.21575752G>CCA416532845ALPLc.1017G>C (p.Gly339=)
n.286G>C
c.92G>C
c.786G>C (p.Gly262=)
c.852G>C (p.Gly284=)
c.861G>C (p.Gly287=)
1g.21575752G=CA1158019286ALPLc.1017G= (p.Gly339=)
n.286G=
c.92G=
c.786G= (p.Gly262=)
c.852G= (p.Gly284=)
c.861G= (p.Gly287=)
1g.21575752G>TCA416532834ALPLc.1017G>T (p.Gly339=)
n.286G>T
c.92G>T
c.786G>T (p.Gly262=)
c.852G>T (p.Gly284=)
c.861G>T (p.Gly287=)
 dbSNP gnomAD v3 gnomAD v4
1g.21575753C>ACA338881003ALPLc.1018C>A (p.His340Asn)
n.287C>A
c.93C>A
c.787C>A (p.His263Asn)
c.853C>A (p.His285Asn)
c.862C>A (p.His288Asn)
1g.21575753C>GCA338881004ALPLc.1018C>G (p.His340Asp)
n.287C>G
c.93C>G
c.787C>G (p.His263Asp)
c.853C>G (p.His285Asp)
c.862C>G (p.His288Asp)
1g.21575753C>TCA338881005ALPLc.1018C>T (p.His340Tyr)
n.287C>T
c.93C>T
c.787C>T (p.His263Tyr)
c.853C>T (p.His285Tyr)
c.862C>T (p.His288Tyr)
 ClinVar
1g.21575754A=CA1158019287ALPLc.1019A= (p.His340=)
n.288A=
c.94A=
c.788A= (p.His263=)
c.854A= (p.His285=)
c.863A= (p.His288=)
1g.21575754A>CCA338881007ALPLc.1019A>C (p.His340Pro)
n.288A>C
c.94A>C
c.788A>C (p.His263Pro)
c.854A>C (p.His285Pro)
c.863A>C (p.His288Pro)
1g.21575754A>GCA338881009ALPLc.1019A>G (p.His340Arg)
n.288A>G
c.94A>G
c.788A>G (p.His263Arg)
c.854A>G (p.His285Arg)
c.863A>G (p.His288Arg)
1g.21575754A>TCA19070156ALPLc.1019A>T (p.His340Leu)
n.288A>T
c.94A>T
c.788A>T (p.His263Leu)
c.854A>T (p.His285Leu)
c.863A>T (p.His288Leu)
 dbSNP
1g.21575755C>ACA338881011ALPLc.1020C>A (p.His340Gln)
n.289C>A
c.95C>A
c.789C>A (p.His263Gln)
c.855C>A (p.His285Gln)
c.864C>A (p.His288Gln)
1g.21575755C>GCA338881012ALPLc.1020C>G (p.His340Gln)
n.289C>G
c.95C>G
c.789C>G (p.His263Gln)
c.855C>G (p.His285Gln)
c.864C>G (p.His288Gln)
1g.21575755C>TCA416532854ALPLc.1020C>T (p.His340=)
n.289C>T
c.95C>T
c.789C>T (p.His263=)
c.855C>T (p.His285=)
c.864C>T (p.His288=)
1g.21575756C>ACA338881013ALPLc.1021C>A (p.His341Asn)
n.290C>A
c.96C>A
c.790C>A (p.His264Asn)
c.856C>A (p.His286Asn)
c.865C>A (p.His289Asn)
1g.21575756C>GCA338881015ALPLc.1021C>G (p.His341Asp)
n.290C>G
c.96C>G
c.790C>G (p.His264Asp)
c.856C>G (p.His286Asp)
c.865C>G (p.His289Asp)
1g.21575756C>TCA338881017ALPLc.1021C>T (p.His341Tyr)
n.290C>T
c.96C>T
c.790C>T (p.His264Tyr)
c.856C>T (p.His286Tyr)
c.865C>T (p.His289Tyr)
1g.21575757A=CA1158019288ALPLc.1022A= (p.His341=)
n.291A=
c.97A=
c.791A= (p.His264=)
c.857A= (p.His286=)
c.866A= (p.His289=)
1g.21575757A>CCA338881018ALPLc.1022A>C (p.His341Pro)
n.291A>C
c.97A>C
c.791A>C (p.His264Pro)
c.857A>C (p.His286Pro)
c.866A>C (p.His289Pro)
 gnomAD v4
1g.21575757A>GCA338881020ALPLc.1022A>G (p.His341Arg)
n.291A>G
c.97A>G
c.791A>G (p.His264Arg)
c.857A>G (p.His286Arg)
c.866A>G (p.His289Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575757A>TCA338881021ALPLc.1022A>T (p.His341Leu)
n.291A>T
c.97A>T
c.791A>T (p.His264Leu)
c.857A>T (p.His286Leu)
c.866A>T (p.His289Leu)
 ClinVar
1g.21575758T>ACA338881022ALPLc.1023T>A (p.His341Gln)
n.292T>A
c.98T>A
c.792T>A (p.His264Gln)
c.858T>A (p.His286Gln)
c.867T>A (p.His289Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21575758T>CCA416532868ALPLc.1023T>C (p.His341=)
n.292T>C
c.98T>C
c.792T>C (p.His264=)
c.858T>C (p.His286=)
c.867T>C (p.His289=)
1g.21575758T>GCA338881023ALPLc.1023T>G (p.His341Gln)
n.292T>G
c.98T>G
c.792T>G (p.His264Gln)
c.858T>G (p.His286Gln)
c.867T>G (p.His289Gln)
 gnomAD v4
1g.21575758T=CA1158019289ALPLc.1023T= (p.His341=)
n.292T=
c.98T=
c.792T= (p.His264=)
c.858T= (p.His286=)
c.867T= (p.His289=)
1g.21575759G>ACA338881024ALPLc.1024G>A (p.Glu342Lys)
n.293G>A
c.99G>A
c.793G>A (p.Glu265Lys)
c.859G>A (p.Glu287Lys)
c.868G>A (p.Glu290Lys)
 ClinVar
1g.21575759G>CCA338881025ALPLc.1024G>C (p.Glu342Gln)
n.293G>C
c.99G>C
c.793G>C (p.Glu265Gln)
c.859G>C (p.Glu287Gln)
c.868G>C (p.Glu290Gln)
1g.21575759G>TCA338881026ALPLc.1024G>T (p.Glu342Ter)
n.293G>T
c.99G>T
c.793G>T (p.Glu265Ter)
c.859G>T (p.Glu287Ter)
c.868G>T (p.Glu290Ter)
 gnomAD v4
1g.21575760A>CCA338881029ALPLc.1025A>C (p.Glu342Ala)
n.294A>C
c.100A>C
c.794A>C (p.Glu265Ala)
c.860A>C (p.Glu287Ala)
c.869A>C (p.Glu290Ala)
1g.21575760A>GCA338881028ALPLc.1025A>G (p.Glu342Gly)
n.294A>G
c.100A>G
c.794A>G (p.Glu265Gly)
c.860A>G (p.Glu287Gly)
c.869A>G (p.Glu290Gly)
1g.21575760A>TCA338881027ALPLc.1025A>T (p.Glu342Val)
n.294A>T
c.100A>T
c.794A>T (p.Glu265Val)
c.860A>T (p.Glu287Val)
c.869A>T (p.Glu290Val)
 gnomAD v4
1g.21575761A>CCA338881031ALPLc.1026A>C (p.Glu342Asp)
n.295A>C
c.101A>C
c.795A>C (p.Glu265Asp)
c.861A>C (p.Glu287Asp)
c.870A>C (p.Glu290Asp)
1g.21575761A>GCA416532879ALPLc.1026A>G (p.Glu342=)
n.295A>G
c.101A>G
c.795A>G (p.Glu265=)
c.861A>G (p.Glu287=)
c.870A>G (p.Glu290=)
1g.21575761A>TCA338881030ALPLc.1026A>T (p.Glu342Asp)
n.295A>T
c.101A>T
c.795A>T (p.Glu265Asp)
c.861A>T (p.Glu287Asp)
c.870A>T (p.Glu290Asp)
1g.21575762G>ACA338881032ALPLc.1027G>A (p.Gly343Arg)
n.296G>A
c.102G>A
c.796G>A (p.Gly266Arg)
c.862G>A (p.Gly288Arg)
c.871G>A (p.Gly291Arg)
1g.21575762G>CCA338881033ALPLc.1027G>C (p.Gly343Arg)
n.296G>C
c.102G>C
c.796G>C (p.Gly266Arg)
c.862G>C (p.Gly288Arg)
c.871G>C (p.Gly291Arg)
1g.21575762G>TCA338881034ALPLc.1027G>T (p.Gly343Ter)
n.296G>T
c.102G>T
c.796G>T (p.Gly266Ter)
c.862G>T (p.Gly288Ter)
c.871G>T (p.Gly291Ter)
1g.21575763G>ACA338881035ALPLc.1028G>A (p.Gly343Glu)
n.297G>A
c.103G>A
c.797G>A (p.Gly266Glu)
c.863G>A (p.Gly288Glu)
c.872G>A (p.Gly291Glu)
 ClinVar
1g.21575763G>CCA338881036ALPLc.1028G>C (p.Gly343Ala)
n.297G>C
c.103G>C
c.797G>C (p.Gly266Ala)
c.863G>C (p.Gly288Ala)
c.872G>C (p.Gly291Ala)
1g.21575763G>TCA338881037ALPLc.1028G>T (p.Gly343Val)
n.297G>T
c.103G>T
c.797G>T (p.Gly266Val)
c.863G>T (p.Gly288Val)
c.872G>T (p.Gly291Val)
1g.21575764A>CCA416532889ALPLc.1029A>C (p.Gly343=)
n.298A>C
c.104A>C
c.798A>C (p.Gly266=)
c.864A>C (p.Gly288=)
c.873A>C (p.Gly291=)
1g.21575764A>GCA416532893ALPLc.1029A>G (p.Gly343=)
n.298A>G
c.104A>G
c.798A>G (p.Gly266=)
c.864A>G (p.Gly288=)
c.873A>G (p.Gly291=)
 gnomAD v4
1g.21575764A>TCA416532891ALPLc.1029A>T (p.Gly343=)
n.298A>T
c.104A>T
c.798A>T (p.Gly266=)
c.864A>T (p.Gly288=)
c.873A>T (p.Gly291=)
1g.21575765A>CCA338881038ALPLc.1030A>C (p.Lys344Gln)
n.299A>C
c.105A>C
c.799A>C (p.Lys267Gln)
c.865A>C (p.Lys289Gln)
c.874A>C (p.Lys292Gln)
1g.21575765A>GCA338881039ALPLc.1030A>G (p.Lys344Glu)
n.299A>G
c.105A>G
c.799A>G (p.Lys267Glu)
c.865A>G (p.Lys289Glu)
c.874A>G (p.Lys292Glu)
1g.21575765A>TCA338881040ALPLc.1030A>T (p.Lys344Ter)
n.299A>T
c.105A>T
c.799A>T (p.Lys267Ter)
c.865A>T (p.Lys289Ter)
c.874A>T (p.Lys292Ter)
1g.21575766A>CCA338881041ALPLc.1031A>C (p.Lys344Thr)
n.300A>C
c.106A>C
c.800A>C (p.Lys267Thr)
c.866A>C (p.Lys289Thr)
c.875A>C (p.Lys292Thr)
1g.21575766A>GCA338881042ALPLc.1031A>G (p.Lys344Arg)
n.300A>G
c.106A>G
c.800A>G (p.Lys267Arg)
c.866A>G (p.Lys289Arg)
c.875A>G (p.Lys292Arg)
1g.21575766A>TCA338881043ALPLc.1031A>T (p.Lys344Ile)
n.300A>T
c.106A>T
c.800A>T (p.Lys267Ile)
c.866A>T (p.Lys289Ile)
c.875A>T (p.Lys292Ile)
 COSMIC
1g.21575767A>CCA338881045ALPLc.1032A>C (p.Lys344Asn)
n.301A>C
c.107A>C
c.801A>C (p.Lys267Asn)
c.867A>C (p.Lys289Asn)
c.876A>C (p.Lys292Asn)
1g.21575767A>GCA416532905ALPLc.1032A>G (p.Lys344=)
n.301A>G
c.107A>G
c.801A>G (p.Lys267=)
c.867A>G (p.Lys289=)
c.876A>G (p.Lys292=)
1g.21575767A>TCA338881044ALPLc.1032A>T (p.Lys344Asn)
n.301A>T
c.107A>T
c.801A>T (p.Lys267Asn)
c.867A>T (p.Lys289Asn)
c.876A>T (p.Lys292Asn)
1g.21575768G>ACA338881046ALPLc.1033G>A (p.Ala345Thr)
n.302G>A
c.108G>A
c.802G>A (p.Ala268Thr)
c.868G>A (p.Ala290Thr)
c.877G>A (p.Ala293Thr)
1g.21575768G>CCA338881047ALPLc.1033G>C (p.Ala345Pro)
n.302G>C
c.108G>C
c.802G>C (p.Ala268Pro)
c.868G>C (p.Ala290Pro)
c.877G>C (p.Ala293Pro)
1g.21575768G>TCA338881048ALPLc.1033G>T (p.Ala345Ser)
n.302G>T
c.108G>T
c.802G>T (p.Ala268Ser)
c.868G>T (p.Ala290Ser)
c.877G>T (p.Ala293Ser)
1g.21575769C>ACA338881049ALPLc.1034C>A (p.Ala345Asp)
n.303C>A
c.109C>A
c.803C>A (p.Ala268Asp)
c.869C>A (p.Ala290Asp)
c.878C>A (p.Ala293Asp)
1g.21575769C=CA1158019290ALPLc.1034C= (p.Ala345=)
n.303C=
c.109C=
c.803C= (p.Ala268=)
c.869C= (p.Ala290=)
c.878C= (p.Ala293=)
1g.21575769C>GCA338881050ALPLc.1034C>G (p.Ala345Gly)
n.303C>G
c.109C>G
c.803C>G (p.Ala268Gly)
c.869C>G (p.Ala290Gly)
c.878C>G (p.Ala293Gly)
1g.21575769C>TCA338881051ALPLc.1034C>T (p.Ala345Val)
n.303C>T
c.109C>T
c.803C>T (p.Ala268Val)
c.869C>T (p.Ala290Val)
c.878C>T (p.Ala293Val)
 ClinVar dbSNP
1g.21575770C>ACA416532918ALPLc.1035C>A (p.Ala345=)
n.304C>A
c.110C>A
c.804C>A (p.Ala268=)
c.870C>A (p.Ala290=)
c.879C>A (p.Ala293=)
 dbSNP gnomAD v2 gnomAD v4
1g.21575770C=CA1158019291ALPLc.1035C= (p.Ala345=)
n.304C=
c.110C=
c.804C= (p.Ala268=)
c.870C= (p.Ala290=)
c.879C= (p.Ala293=)
1g.21575770C>GCA416532916ALPLc.1035C>G (p.Ala345=)
n.304C>G
c.110C>G
c.804C>G (p.Ala268=)
c.870C>G (p.Ala290=)
c.879C>G (p.Ala293=)
 dbSNP gnomAD v2 gnomAD v4
1g.21575770C>TCA416532914ALPLc.1035C>T (p.Ala345=)
n.304C>T
c.110C>T
c.804C>T (p.Ala268=)
c.870C>T (p.Ala290=)
c.879C>T (p.Ala293=)
 ClinVar dbSNP

Number of alleles fetched