Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21564003C>ACA1158014418ALPLc.473-38C>A (n.473-38C>A)
n.533-38C>A
c.242-38C>A (n.242-38C>A)
c.308-38C>A (n.308-38C>A)
c.317-38C>A (n.317-38C>A)
 dbSNP gnomAD v4
1g.21564003C=CA1158014417ALPLc.473-38C= (n.473-38C=)
n.533-38C=
c.242-38C= (n.242-38C=)
c.308-38C= (n.308-38C=)
c.317-38C= (n.317-38C=)
1g.21564003_21564004insGGGGCA2553347753ALPLc.473-38_473-37insGGGG (n.473-38_473-37insGGGG)
n.533-38_533-37insGGGG
c.242-38_242-37insGGGG (n.242-38_242-37insGGGG)
c.308-38_308-37insGGGG (n.308-38_308-37insGGGG)
c.317-38_317-37insGGGG (n.317-38_317-37insGGGG)
1g.21564004T>CCA521899996ALPLc.473-37T>C (n.473-37T>C)
n.533-37T>C
c.242-37T>C (n.242-37T>C)
c.308-37T>C (n.308-37T>C)
c.317-37T>C (n.317-37T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564004T=CA1158014419ALPLc.473-37T= (n.473-37T=)
n.533-37T=
c.242-37T= (n.242-37T=)
c.308-37T= (n.308-37T=)
c.317-37T= (n.317-37T=)
1g.21564006_21564007delCA2643930464ALPLc.473-35_473-34del (n.473-35_473-34del)
n.533-35_533-34del
c.242-35_242-34del (n.242-35_242-34del)
c.308-35_308-34del (n.308-35_308-34del)
c.317-35_317-34del (n.317-35_317-34del)
 gnomAD v4
1g.21564005G>ACA2643930465ALPLc.473-36G>A (n.473-36G>A)
n.533-36G>A
c.242-36G>A (n.242-36G>A)
c.308-36G>A (n.308-36G>A)
c.317-36G>A (n.317-36G>A)
 gnomAD v4
1g.21564005G>TCA2643930466ALPLc.473-36G>T (n.473-36G>T)
n.533-36G>T
c.242-36G>T (n.242-36G>T)
c.308-36G>T (n.308-36G>T)
c.317-36G>T (n.317-36G>T)
 gnomAD v4
1g.21564007_21564019delCA2514836486ALPLc.473-34_473-22del (n.473-34_473-22del)
n.533-34_533-22del
c.242-34_242-22del (n.242-34_242-22del)
c.308-34_308-22del (n.308-34_308-22del)
c.317-34_317-22del (n.317-34_317-22del)
1g.21564008G>ACA666507ALPLc.473-33G>A (n.473-33G>A)
n.533-33G>A
c.242-33G>A (n.242-33G>A)
c.308-33G>A (n.308-33G>A)
c.317-33G>A (n.317-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564008G=CA1145780633ALPLc.473-33G= (n.473-33G=)
n.533-33G=
c.242-33G= (n.242-33G=)
c.308-33G= (n.308-33G=)
c.317-33G= (n.317-33G=)
1g.21564008G>TCA521899997ALPLc.473-33G>T (n.473-33G>T)
n.533-33G>T
c.242-33G>T (n.242-33G>T)
c.308-33G>T (n.308-33G>T)
c.317-33G>T (n.317-33G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.21564009A=CA1158014420ALPLc.473-32A= (n.473-32A=)
n.533-32A=
c.242-32A= (n.242-32A=)
c.308-32A= (n.308-32A=)
c.317-32A= (n.317-32A=)
1g.21564009A>TCA666508ALPLc.473-32A>T (n.473-32A>T)
n.533-32A>T
c.242-32A>T (n.242-32A>T)
c.308-32A>T (n.308-32A>T)
c.317-32A>T (n.317-32A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564011A>GCA2643930467ALPLc.473-30A>G (n.473-30A>G)
n.533-30A>G
c.242-30A>G (n.242-30A>G)
c.308-30A>G (n.308-30A>G)
c.317-30A>G (n.317-30A>G)
 gnomAD v4
1g.21564014G>ACA731315818ALPLc.473-27G>A (n.473-27G>A)
n.533-27G>A
c.242-27G>A (n.242-27G>A)
c.308-27G>A (n.308-27G>A)
c.317-27G>A (n.317-27G>A)
 dbSNP gnomAD v4
1g.21564014G=CA1158014421ALPLc.473-27G= (n.473-27G=)
n.533-27G=
c.242-27G= (n.242-27G=)
c.308-27G= (n.308-27G=)
c.317-27G= (n.317-27G=)
1g.21564014G>TCA2643930468ALPLc.473-27G>T (n.473-27G>T)
n.533-27G>T
c.242-27G>T (n.242-27G>T)
c.308-27G>T (n.308-27G>T)
c.317-27G>T (n.317-27G>T)
 gnomAD v4
1g.21564016C>ACA2643930469ALPLc.473-25C>A (n.473-25C>A)
n.533-25C>A
c.242-25C>A (n.242-25C>A)
c.308-25C>A (n.308-25C>A)
c.317-25C>A (n.317-25C>A)
 gnomAD v4
1g.21564017A=CA1158014422ALPLc.473-24A= (n.473-24A=)
n.533-24A=
c.242-24A= (n.242-24A=)
c.308-24A= (n.308-24A=)
c.317-24A= (n.317-24A=)
1g.21564017A>CCA666509ALPLc.473-24A>C (n.473-24A>C)
n.533-24A>C
c.242-24A>C (n.242-24A>C)
c.308-24A>C (n.308-24A>C)
c.317-24A>C (n.317-24A>C)
 dbSNP ExAC gnomAD v2
1g.21564017A>GCA2643930470ALPLc.473-24A>G (n.473-24A>G)
n.533-24A>G
c.242-24A>G (n.242-24A>G)
c.308-24A>G (n.308-24A>G)
c.317-24A>G (n.317-24A>G)
 gnomAD v4
1g.21564019A=CA1158014423ALPLc.473-22A= (n.473-22A=)
n.533-22A=
c.242-22A= (n.242-22A=)
c.308-22A= (n.308-22A=)
c.317-22A= (n.317-22A=)
1g.21564019A>CCA19060158ALPLc.473-22A>C (n.473-22A>C)
n.533-22A>C
c.242-22A>C (n.242-22A>C)
c.308-22A>C (n.308-22A>C)
c.317-22A>C (n.317-22A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564019A>GCA2643930471ALPLc.473-22A>G (n.473-22A>G)
n.533-22A>G
c.242-22A>G (n.242-22A>G)
c.308-22A>G (n.308-22A>G)
c.317-22A>G (n.317-22A>G)
 dbSNP gnomAD v4
1g.21564020C>TCA2574253001ALPLc.473-21C>T (n.473-21C>T)
n.533-21C>T
c.242-21C>T (n.242-21C>T)
c.308-21C>T (n.308-21C>T)
c.317-21C>T (n.317-21C>T)
1g.21564023_21564026delCA2643930472ALPLc.473-18_473-15del (n.473-18_473-15del)
n.533-18_533-15del
c.242-18_242-15del (n.242-18_242-15del)
c.308-18_308-15del (n.308-18_308-15del)
c.317-18_317-15del (n.317-18_317-15del)
 gnomAD v4
1g.21564021C>TCA2643930473ALPLc.473-20C>T (n.473-20C>T)
n.533-20C>T
c.242-20C>T (n.242-20C>T)
c.308-20C>T (n.308-20C>T)
c.317-20C>T (n.317-20C>T)
 ClinVar gnomAD v4
1g.21564022C>ACA2574253002ALPLc.473-19C>A (n.473-19C>A)
n.533-19C>A
c.242-19C>A (n.242-19C>A)
c.308-19C>A (n.308-19C>A)
c.317-19C>A (n.317-19C>A)
 gnomAD v4
1g.21564022C=CA1147167742ALPLc.473-19C= (n.473-19C=)
n.533-19C=
c.242-19C= (n.242-19C=)
c.308-19C= (n.308-19C=)
c.317-19C= (n.317-19C=)
1g.21564022C>GCA2643930474ALPLc.473-19C>G (n.473-19C>G)
n.533-19C>G
c.242-19C>G (n.242-19C>G)
c.308-19C>G (n.308-19C>G)
c.317-19C>G (n.317-19C>G)
 gnomAD v4
1g.21564022C>TCA19060166ALPLc.473-19C>T (n.473-19C>T)
n.533-19C>T
c.242-19C>T (n.242-19C>T)
c.308-19C>T (n.308-19C>T)
c.317-19C>T (n.317-19C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564023G>ACA666510ALPLc.473-18G>A (n.473-18G>A)
n.533-18G>A
c.242-18G>A (n.242-18G>A)
c.308-18G>A (n.308-18G>A)
c.317-18G>A (n.317-18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564023G>CCA1158014424ALPLc.473-18G>C (n.473-18G>C)
n.533-18G>C
c.242-18G>C (n.242-18G>C)
c.308-18G>C (n.308-18G>C)
c.317-18G>C (n.317-18G>C)
 dbSNP gnomAD v4
1g.21564023G=CA1144143427ALPLc.473-18G= (n.473-18G=)
n.533-18G=
c.242-18G= (n.242-18G=)
c.308-18G= (n.308-18G=)
c.317-18G= (n.317-18G=)
1g.21564024C=CA1158014425ALPLc.473-17C= (n.473-17C=)
n.533-17C=
c.242-17C= (n.242-17C=)
c.308-17C= (n.308-17C=)
c.317-17C= (n.317-17C=)
1g.21564024C>GCA2643930475ALPLc.473-17C>G (n.473-17C>G)
n.533-17C>G
c.242-17C>G (n.242-17C>G)
c.308-17C>G (n.308-17C>G)
c.317-17C>G (n.317-17C>G)
 gnomAD v4
1g.21564024C>TCA1158014426ALPLc.473-17C>T (n.473-17C>T)
n.533-17C>T
c.242-17C>T (n.242-17C>T)
c.308-17C>T (n.308-17C>T)
c.317-17C>T (n.317-17C>T)
 dbSNP gnomAD v4
1g.21564025C>ACA1158014428ALPLc.473-16C>A (n.473-16C>A)
n.533-16C>A
c.242-16C>A (n.242-16C>A)
c.308-16C>A (n.308-16C>A)
c.317-16C>A (n.317-16C>A)
 ClinVar dbSNP
1g.21564025C=CA1158014427ALPLc.473-16C= (n.473-16C=)
n.533-16C=
c.242-16C= (n.242-16C=)
c.308-16C= (n.308-16C=)
c.317-16C= (n.317-16C=)
1g.21564025C>TCA2574253004ALPLc.473-16C>T (n.473-16C>T)
n.533-16C>T
c.242-16C>T (n.242-16C>T)
c.308-16C>T (n.308-16C>T)
c.317-16C>T (n.317-16C>T)
 ClinVar gnomAD v4
1g.21564026C>ACA2643930476ALPLc.473-15C>A (n.473-15C>A)
n.533-15C>A
c.242-15C>A (n.242-15C>A)
c.308-15C>A (n.308-15C>A)
c.317-15C>A (n.317-15C>A)
 ClinVar gnomAD v4
1g.21564026C=CA1158014429ALPLc.473-15C= (n.473-15C=)
n.533-15C=
c.242-15C= (n.242-15C=)
c.308-15C= (n.308-15C=)
c.317-15C= (n.317-15C=)
1g.21564026C>TCA666511ALPLc.473-15C>T (n.473-15C>T)
n.533-15C>T
c.242-15C>T (n.242-15C>T)
c.308-15C>T (n.308-15C>T)
c.317-15C>T (n.317-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564027C>TCA2573337495ALPLc.473-14C>T (n.473-14C>T)
n.533-14C>T
c.242-14C>T (n.242-14C>T)
c.308-14C>T (n.308-14C>T)
c.317-14C>T (n.317-14C>T)
1g.21564029C=CA1142162326ALPLc.473-12C= (n.473-12C=)
n.533-12C=
c.242-12C= (n.242-12C=)
c.308-12C= (n.308-12C=)
c.317-12C= (n.317-12C=)
1g.21564029C>TCA666512ALPLc.473-12C>T (n.473-12C>T)
n.533-12C>T
c.242-12C>T (n.242-12C>T)
c.308-12C>T (n.308-12C>T)
c.317-12C>T (n.317-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564031T>CCA666513ALPLc.473-10T>C (n.473-10T>C)
n.533-10T>C
c.242-10T>C (n.242-10T>C)
c.308-10T>C (n.308-10T>C)
c.317-10T>C (n.317-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564031T=CA1158014430ALPLc.473-10T= (n.473-10T=)
n.533-10T=
c.242-10T= (n.242-10T=)
c.308-10T= (n.308-10T=)
c.317-10T= (n.317-10T=)
1g.21564032G>ACA2573130479ALPLc.473-9G>A (n.473-9G>A)
n.533-9G>A
c.242-9G>A (n.242-9G>A)
c.308-9G>A (n.308-9G>A)
c.317-9G>A (n.317-9G>A)
 ClinVar dbSNP gnomAD v4
1g.21564032G>CCA521899998ALPLc.473-9G>C (n.473-9G>C)
n.533-9G>C
c.242-9G>C (n.242-9G>C)
c.308-9G>C (n.308-9G>C)
c.317-9G>C (n.317-9G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564032G=CA1158014431ALPLc.473-9G= (n.473-9G=)
n.533-9G=
c.242-9G= (n.242-9G=)
c.308-9G= (n.308-9G=)
c.317-9G= (n.317-9G=)
1g.21564032G>TCA2643930477ALPLc.473-9G>T (n.473-9G>T)
n.533-9G>T
c.242-9G>T (n.242-9G>T)
c.308-9G>T (n.308-9G>T)
c.317-9G>T (n.317-9G>T)
 gnomAD v4
1g.21564034A=CA1158014432ALPLc.473-7A= (n.473-7A=)
n.533-7A=
c.242-7A= (n.242-7A=)
c.308-7A= (n.308-7A=)
c.317-7A= (n.317-7A=)
1g.21564034A>CCA1158014433ALPLc.473-7A>C (n.473-7A>C)
n.533-7A>C
c.242-7A>C (n.242-7A>C)
c.308-7A>C (n.308-7A>C)
c.317-7A>C (n.317-7A>C)
 dbSNP
1g.21564035C=CA1158014434ALPLc.473-6C= (n.473-6C=)
n.533-6C=
c.242-6C= (n.242-6C=)
c.308-6C= (n.308-6C=)
c.317-6C= (n.317-6C=)
1g.21564035C>TCA521899999ALPLc.473-6C>T (n.473-6C>T)
n.533-6C>T
c.242-6C>T (n.242-6C>T)
c.308-6C>T (n.308-6C>T)
c.317-6C>T (n.317-6C>T)
 ClinVar dbSNP gnomAD v2
1g.21564036C>GCA2574253005ALPLc.473-5C>G (n.473-5C>G)
n.533-5C>G
c.242-5C>G (n.242-5C>G)
c.308-5C>G (n.308-5C>G)
c.317-5C>G (n.317-5C>G)
1g.21564037C=CA1158014435ALPLc.473-4C= (n.473-4C=)
n.533-4C=
c.242-4C= (n.242-4C=)
c.308-4C= (n.308-4C=)
c.317-4C= (n.317-4C=)
1g.21564037C>GCA521900000ALPLc.473-4C>G (n.473-4C>G)
n.533-4C>G
c.242-4C>G (n.242-4C>G)
c.308-4C>G (n.308-4C>G)
c.317-4C>G (n.317-4C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.21564037C>TCA2643930478ALPLc.473-4C>T (n.473-4C>T)
n.533-4C>T
c.242-4C>T (n.242-4C>T)
c.308-4C>T (n.308-4C>T)
c.317-4C>T (n.317-4C>T)
 ClinVar gnomAD v4
1g.21564039A>CCA338877667ALPLc.473-2A>C (n.473-2A>C)
n.533-2A>C
c.242-2A>C (n.242-2A>C)
c.308-2A>C (n.308-2A>C)
c.317-2A>C (n.317-2A>C)
1g.21564039A>GCA338877665ALPLc.473-2A>G (n.473-2A>G)
n.533-2A>G
c.242-2A>G (n.242-2A>G)
c.308-2A>G (n.308-2A>G)
c.317-2A>G (n.317-2A>G)
 gnomAD v4
1g.21564039A>TCA338877668ALPLc.473-2A>T (n.473-2A>T)
n.533-2A>T
c.242-2A>T (n.242-2A>T)
c.308-2A>T (n.308-2A>T)
c.317-2A>T (n.317-2A>T)
1g.21564040G>ACA338877670ALPLc.473-1G>A (n.473-1G>A)
n.533-1G>A
c.242-1G>A (n.242-1G>A)
c.308-1G>A (n.308-1G>A)
c.317-1G>A (n.317-1G>A)
 ClinVar
1g.21564040G>CCA338877671ALPLc.473-1G>C (n.473-1G>C)
n.533-1G>C
c.242-1G>C (n.242-1G>C)
c.308-1G>C (n.308-1G>C)
c.317-1G>C (n.317-1G>C)
1g.21564040G>TCA338877672ALPLc.473-1G>T (n.473-1G>T)
n.533-1G>T
c.242-1G>T (n.242-1G>T)
c.308-1G>T (n.308-1G>T)
c.317-1G>T (n.317-1G>T)
1g.21564041G>ACA338877675ALPLc.473G>A (p.Gly158Glu)
n.533G>A
c.242G>A (p.Gly81Glu)
c.308G>A (p.Gly103Glu)
c.317G>A (p.Gly106Glu)
1g.21564041G>CCA338877676ALPLc.473G>C (p.Gly158Ala)
n.533G>C
c.242G>C (p.Gly81Ala)
c.308G>C (p.Gly103Ala)
c.317G>C (p.Gly106Ala)
1g.21564041G>TCA338877679ALPLc.473G>T (p.Gly158Val)
n.533G>T
c.242G>T (p.Gly81Val)
c.308G>T (p.Gly103Val)
c.317G>T (p.Gly106Val)
1g.21564042G>ACA19060178ALPLc.474G>A (p.Gly158=)
n.534G>A
c.243G>A (p.Gly81=)
c.309G>A (p.Gly103=)
c.318G>A (p.Gly106=)
 dbSNP gnomAD v4 COSMIC
1g.21564042G>CCA416527442ALPLc.474G>C (p.Gly158=)
n.534G>C
c.243G>C (p.Gly81=)
c.309G>C (p.Gly103=)
c.318G>C (p.Gly106=)
1g.21564042G=CA1158014436ALPLc.474G= (p.Gly158=)
n.534G=
c.243G= (p.Gly81=)
c.309G= (p.Gly103=)
c.318G= (p.Gly106=)
1g.21564042G>TCA416527440ALPLc.474G>T (p.Gly158=)
n.534G>T
c.243G>T (p.Gly81=)
c.309G>T (p.Gly103=)
c.318G>T (p.Gly106=)
 gnomAD v4
1g.21564043A>CCA338877683ALPLc.475A>C (p.Lys159Gln)
n.535A>C
c.244A>C (p.Lys82Gln)
c.310A>C (p.Lys104Gln)
c.319A>C (p.Lys107Gln)
1g.21564043A>GCA338877684ALPLc.475A>G (p.Lys159Glu)
n.535A>G
c.244A>G (p.Lys82Glu)
c.310A>G (p.Lys104Glu)
c.319A>G (p.Lys107Glu)
1g.21564043A>TCA338877685ALPLc.475A>T (p.Lys159Ter)
n.535A>T
c.244A>T (p.Lys82Ter)
c.310A>T (p.Lys104Ter)
c.319A>T (p.Lys107Ter)
1g.21564044A>CCA338877688ALPLc.476A>C (p.Lys159Thr)
n.536A>C
c.245A>C (p.Lys82Thr)
c.311A>C (p.Lys104Thr)
c.320A>C (p.Lys107Thr)
1g.21564044A>GCA338877690ALPLc.476A>G (p.Lys159Arg)
n.536A>G
c.245A>G (p.Lys82Arg)
c.311A>G (p.Lys104Arg)
c.320A>G (p.Lys107Arg)
1g.21564044A>TCA338877691ALPLc.476A>T (p.Lys159Ile)
n.536A>T
c.245A>T (p.Lys82Ile)
c.311A>T (p.Lys104Ile)
c.320A>T (p.Lys107Ile)
1g.21564045A>CCA338877694ALPLc.477A>C (p.Lys159Asn)
n.537A>C
c.246A>C (p.Lys82Asn)
c.312A>C (p.Lys104Asn)
c.321A>C (p.Lys107Asn)
1g.21564045A>GCA416527453ALPLc.477A>G (p.Lys159=)
n.537A>G
c.246A>G (p.Lys82=)
c.312A>G (p.Lys104=)
c.321A>G (p.Lys107=)
1g.21564045A>TCA338877696ALPLc.477A>T (p.Lys159Asn)
n.537A>T
c.246A>T (p.Lys82Asn)
c.312A>T (p.Lys104Asn)
c.321A>T (p.Lys107Asn)
1g.21564046T>ACA338877698ALPLc.478T>A (p.Ser160Thr)
n.538T>A
c.247T>A (p.Ser83Thr)
c.313T>A (p.Ser105Thr)
c.322T>A (p.Ser108Thr)
1g.21564046T>CCA338877699ALPLc.478T>C (p.Ser160Pro)
n.538T>C
c.247T>C (p.Ser83Pro)
c.313T>C (p.Ser105Pro)
c.322T>C (p.Ser108Pro)
1g.21564046T>GCA338877701ALPLc.478T>G (p.Ser160Ala)
n.538T>G
c.247T>G (p.Ser83Ala)
c.313T>G (p.Ser105Ala)
c.322T>G (p.Ser108Ala)
1g.21564047C>ACA338877704ALPLc.479C>A (p.Ser160Tyr)
n.539C>A
c.248C>A (p.Ser83Tyr)
c.314C>A (p.Ser105Tyr)
c.323C>A (p.Ser108Tyr)
 dbSNP
1g.21564047C=CA1158014437ALPLc.479C= (p.Ser160=)
n.539C=
c.248C= (p.Ser83=)
c.314C= (p.Ser105=)
c.323C= (p.Ser108=)
1g.21564047C>GCA338877706ALPLc.479C>G (p.Ser160Cys)
n.539C>G
c.248C>G (p.Ser83Cys)
c.314C>G (p.Ser105Cys)
c.323C>G (p.Ser108Cys)
1g.21564047C>TCA338877708ALPLc.479C>T (p.Ser160Phe)
n.539C>T
c.248C>T (p.Ser83Phe)
c.314C>T (p.Ser105Phe)
c.323C>T (p.Ser108Phe)
1g.21564047_21564048delinsCTCA1158014438ALPLc.479_480delinsCT (p.Ser160=)
n.539_540delinsCT
c.248_249delinsCT (p.Ser83=)
c.314_315delinsCT (p.Ser105=)
c.323_324delinsCT (p.Ser108=)
1g.21564048delCA1158014439ALPLc.480del (p.Val161TrpfsTer4)
n.540del
c.249del (p.Val84TrpfsTer4)
c.315del (p.Val106TrpfsTer4)
c.324del (p.Val109TrpfsTer4)
 ClinVar dbSNP gnomAD v4
1g.21564048T>ACA416527462ALPLc.480T>A (p.Ser160=)
n.540T>A
c.249T>A (p.Ser83=)
c.315T>A (p.Ser105=)
c.324T>A (p.Ser108=)
1g.21564048T>CCA416527465ALPLc.480T>C (p.Ser160=)
n.540T>C
c.249T>C (p.Ser83=)
c.315T>C (p.Ser105=)
c.324T>C (p.Ser108=)
1g.21564048T>GCA416527464ALPLc.480T>G (p.Ser160=)
n.540T>G
c.249T>G (p.Ser83=)
c.315T>G (p.Ser105=)
c.324T>G (p.Ser108=)
1g.21564049G>ACA338877710ALPLc.481G>A (p.Val161Met)
n.541G>A
c.250G>A (p.Val84Met)
c.316G>A (p.Val106Met)
c.325G>A (p.Val109Met)
 gnomAD v4
1g.21564049G>CCA338877712ALPLc.481G>C (p.Val161Leu)
n.541G>C
c.250G>C (p.Val84Leu)
c.316G>C (p.Val106Leu)
c.325G>C (p.Val109Leu)
1g.21564049G>TCA338877714ALPLc.481G>T (p.Val161Leu)
n.541G>T
c.250G>T (p.Val84Leu)
c.316G>T (p.Val106Leu)
c.325G>T (p.Val109Leu)
1g.21564050T>ACA338877716ALPLc.482T>A (p.Val161Glu)
n.542T>A
c.251T>A (p.Val84Glu)
c.317T>A (p.Val106Glu)
c.326T>A (p.Val109Glu)
1g.21564050T>CCA338877718ALPLc.482T>C (p.Val161Ala)
n.542T>C
c.251T>C (p.Val84Ala)
c.317T>C (p.Val106Ala)
c.326T>C (p.Val109Ala)
1g.21564050T>GCA338877720ALPLc.482T>G (p.Val161Gly)
n.542T>G
c.251T>G (p.Val84Gly)
c.317T>G (p.Val106Gly)
c.326T>G (p.Val109Gly)
1g.21564051G>ACA416527475ALPLc.483G>A (p.Val161=)
n.543G>A
c.252G>A (p.Val84=)
c.318G>A (p.Val106=)
c.327G>A (p.Val109=)
1g.21564051G>CCA416527478ALPLc.483G>C (p.Val161=)
n.543G>C
c.252G>C (p.Val84=)
c.318G>C (p.Val106=)
c.327G>C (p.Val109=)
1g.21564051G>TCA416527477ALPLc.483G>T (p.Val161=)
n.543G>T
c.252G>T (p.Val84=)
c.318G>T (p.Val106=)
c.327G>T (p.Val109=)
1g.21564052G>ACA666514ALPLc.484G>A (p.Gly162Ser)
n.544G>A
c.253G>A (p.Gly85Ser)
c.319G>A (p.Gly107Ser)
c.328G>A (p.Gly110Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564052G>CCA338877725ALPLc.484G>C (p.Gly162Arg)
n.544G>C
c.253G>C (p.Gly85Arg)
c.319G>C (p.Gly107Arg)
c.328G>C (p.Gly110Arg)
1g.21564052G=CA1158014440ALPLc.484G= (p.Gly162=)
n.544G=
c.253G= (p.Gly85=)
c.319G= (p.Gly107=)
c.328G= (p.Gly110=)
1g.21564052G>TCA338877723ALPLc.484G>T (p.Gly162Cys)
n.544G>T
c.253G>T (p.Gly85Cys)
c.319G>T (p.Gly107Cys)
c.328G>T (p.Gly110Cys)
1g.21564053G>ACA338877726ALPLc.485G>A (p.Gly162Asp)
n.545G>A
c.254G>A (p.Gly85Asp)
c.320G>A (p.Gly107Asp)
c.329G>A (p.Gly110Asp)
1g.21564053G>CCA338877728ALPLc.485G>C (p.Gly162Ala)
n.545G>C
c.254G>C (p.Gly85Ala)
c.320G>C (p.Gly107Ala)
c.329G>C (p.Gly110Ala)
1g.21564053G=CA1141580636ALPLc.485G= (p.Gly162=)
n.545G=
c.254G= (p.Gly85=)
c.320G= (p.Gly107=)
c.329G= (p.Gly110=)
1g.21564053G>TCA256933ALPLc.485G>T (p.Gly162Val)
n.545G>T
c.254G>T (p.Gly85Val)
c.320G>T (p.Gly107Val)
c.329G>T (p.Gly110Val)
 ClinVar dbSNP gnomAD v4
1g.21564054C>ACA416527488ALPLc.486C>A (p.Gly162=)
n.546C>A
c.255C>A (p.Gly85=)
c.321C>A (p.Gly107=)
c.330C>A (p.Gly110=)
1g.21564054C>GCA416527490ALPLc.486C>G (p.Gly162=)
n.546C>G
c.255C>G (p.Gly85=)
c.321C>G (p.Gly107=)
c.330C>G (p.Gly110=)
1g.21564054C>TCA416527487ALPLc.486C>T (p.Gly162=)
n.546C>T
c.255C>T (p.Gly85=)
c.321C>T (p.Gly107=)
c.330C>T (p.Gly110=)
 ClinVar
1g.21564055A>CCA338877732ALPLc.487A>C (p.Ile163Leu)
n.547A>C
c.256A>C (p.Ile86Leu)
c.322A>C (p.Ile108Leu)
c.331A>C (p.Ile111Leu)
1g.21564055A>GCA338877733ALPLc.487A>G (p.Ile163Val)
n.547A>G
c.256A>G (p.Ile86Val)
c.322A>G (p.Ile108Val)
c.331A>G (p.Ile111Val)
1g.21564055A>TCA338877735ALPLc.487A>T (p.Ile163Phe)
n.547A>T
c.256A>T (p.Ile86Phe)
c.322A>T (p.Ile108Phe)
c.331A>T (p.Ile111Phe)
1g.21564056T>ACA338877736ALPLc.488T>A (p.Ile163Asn)
n.548T>A
c.257T>A (p.Ile86Asn)
c.323T>A (p.Ile108Asn)
c.332T>A (p.Ile111Asn)
1g.21564056T>CCA338877739ALPLc.488T>C (p.Ile163Thr)
n.548T>C
c.257T>C (p.Ile86Thr)
c.323T>C (p.Ile108Thr)
c.332T>C (p.Ile111Thr)
1g.21564056T>GCA338877741ALPLc.488T>G (p.Ile163Ser)
n.548T>G
c.257T>G (p.Ile86Ser)
c.323T>G (p.Ile108Ser)
c.332T>G (p.Ile111Ser)
1g.21564057T>ACA416527500ALPLc.489T>A (p.Ile163=)
n.549T>A
c.258T>A (p.Ile86=)
c.324T>A (p.Ile108=)
c.333T>A (p.Ile111=)
1g.21564057T>CCA416527499ALPLc.489T>C (p.Ile163=)
n.549T>C
c.258T>C (p.Ile86=)
c.324T>C (p.Ile108=)
c.333T>C (p.Ile111=)
1g.21564057T>GCA338877743ALPLc.489T>G (p.Ile163Met)
n.549T>G
c.258T>G (p.Ile86Met)
c.324T>G (p.Ile108Met)
c.333T>G (p.Ile111Met)
1g.21564058G>ACA338877745ALPLc.490G>A (p.Val164Met)
n.550G>A
c.259G>A (p.Val87Met)
c.325G>A (p.Val109Met)
c.334G>A (p.Val112Met)
1g.21564058G>CCA338877747ALPLc.490G>C (p.Val164Leu)
n.550G>C
c.259G>C (p.Val87Leu)
c.325G>C (p.Val109Leu)
c.334G>C (p.Val112Leu)
1g.21564058G>TCA338877749ALPLc.490G>T (p.Val164Leu)
n.550G>T
c.259G>T (p.Val87Leu)
c.325G>T (p.Val109Leu)
c.334G>T (p.Val112Leu)
1g.21564058_21564079dupCA2643930479ALPLc.490_511dup (p.His171ArgfsTer20)
n.550_571dup
c.259_280dup (p.His94ArgfsTer20)
c.325_346dup (p.His116ArgfsTer20)
c.334_355dup (p.His119ArgfsTer20)
 gnomAD v4
1g.21564059T>ACA338877752ALPLc.491T>A (p.Val164Glu)
n.551T>A
c.260T>A (p.Val87Glu)
c.326T>A (p.Val109Glu)
c.335T>A (p.Val112Glu)
1g.21564059T>CCA338877756ALPLc.491T>C (p.Val164Ala)
n.551T>C
c.260T>C (p.Val87Ala)
c.326T>C (p.Val109Ala)
c.335T>C (p.Val112Ala)
1g.21564059T>GCA338877754ALPLc.491T>G (p.Val164Gly)
n.551T>G
c.260T>G (p.Val87Gly)
c.326T>G (p.Val109Gly)
c.335T>G (p.Val112Gly)
1g.21564060G>ACA666515ALPLc.492G>A (p.Val164=)
n.552G>A
c.261G>A (p.Val87=)
c.327G>A (p.Val109=)
c.336G>A (p.Val112=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564060G>CCA416527516ALPLc.492G>C (p.Val164=)
n.552G>C
c.261G>C (p.Val87=)
c.327G>C (p.Val109=)
c.336G>C (p.Val112=)
1g.21564060G=CA1158014441ALPLc.492G= (p.Val164=)
n.552G=
c.261G= (p.Val87=)
c.327G= (p.Val109=)
c.336G= (p.Val112=)
1g.21564060G>TCA416527513ALPLc.492G>T (p.Val164=)
n.552G>T
c.261G>T (p.Val87=)
c.327G>T (p.Val109=)
c.336G>T (p.Val112=)
1g.21564061A>CCA338877760ALPLc.493A>C (p.Thr165Pro)
n.553A>C
c.262A>C (p.Thr88Pro)
c.328A>C (p.Thr110Pro)
c.337A>C (p.Thr113Pro)
1g.21564061A>GCA338877762ALPLc.493A>G (p.Thr165Ala)
n.553A>G
c.262A>G (p.Thr88Ala)
c.328A>G (p.Thr110Ala)
c.337A>G (p.Thr113Ala)
1g.21564061A>TCA338877764ALPLc.493A>T (p.Thr165Ser)
n.553A>T
c.262A>T (p.Thr88Ser)
c.328A>T (p.Thr110Ser)
c.337A>T (p.Thr113Ser)
1g.21564066_21564068delCA2740090617ALPLc.498_500del (p.Thr167del)
n.558_560del
c.267_269del (p.Thr90del)
c.333_335del (p.Thr112del)
c.342_344del (p.Thr115del)
 ClinVar
1g.21564062C>ACA338877767ALPLc.494C>A (p.Thr165Asn)
n.554C>A
c.263C>A (p.Thr88Asn)
c.329C>A (p.Thr110Asn)
c.338C>A (p.Thr113Asn)
1g.21564062C=CA1158014442ALPLc.494C= (p.Thr165=)
n.554C=
c.263C= (p.Thr88=)
c.329C= (p.Thr110=)
c.338C= (p.Thr113=)
1g.21564062C>GCA338877768ALPLc.494C>G (p.Thr165Ser)
n.554C>G
c.263C>G (p.Thr88Ser)
c.329C>G (p.Thr110Ser)
c.338C>G (p.Thr113Ser)
1g.21564062C>TCA666516ALPLc.494C>T (p.Thr165Ile)
n.554C>T
c.263C>T (p.Thr88Ile)
c.329C>T (p.Thr110Ile)
c.338C>T (p.Thr113Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564063C>ACA416527528ALPLc.495C>A (p.Thr165=)
n.555C>A
c.264C>A (p.Thr88=)
c.330C>A (p.Thr110=)
c.339C>A (p.Thr113=)
 ClinVar dbSNP
1g.21564063C>GCA416527529ALPLc.495C>G (p.Thr165=)
n.555C>G
c.264C>G (p.Thr88=)
c.330C>G (p.Thr110=)
c.339C>G (p.Thr113=)
1g.21564063C>TCA416527531ALPLc.495C>T (p.Thr165=)
n.555C>T
c.264C>T (p.Thr88=)
c.330C>T (p.Thr110=)
c.339C>T (p.Thr113=)
 ClinVar dbSNP gnomAD v4
1g.21564064A>CCA338877772ALPLc.496A>C (p.Thr166Pro)
n.556A>C
c.265A>C (p.Thr89Pro)
c.331A>C (p.Thr111Pro)
c.340A>C (p.Thr114Pro)
1g.21564064A>GCA338877774ALPLc.496A>G (p.Thr166Ala)
n.556A>G
c.265A>G (p.Thr89Ala)
c.331A>G (p.Thr111Ala)
c.340A>G (p.Thr114Ala)
 gnomAD v4
1g.21564064A>TCA338877777ALPLc.496A>T (p.Thr166Ser)
n.556A>T
c.265A>T (p.Thr89Ser)
c.331A>T (p.Thr111Ser)
c.340A>T (p.Thr114Ser)
1g.21564065C>ACA338877782ALPLc.497C>A (p.Thr166Asn)
n.557C>A
c.266C>A (p.Thr89Asn)
c.332C>A (p.Thr111Asn)
c.341C>A (p.Thr114Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.21564065C=CA1158014443ALPLc.497C= (p.Thr166=)
n.557C=
c.266C= (p.Thr89=)
c.332C= (p.Thr111=)
c.341C= (p.Thr114=)
1g.21564065C>GCA338877783ALPLc.497C>G (p.Thr166Ser)
n.557C>G
c.266C>G (p.Thr89Ser)
c.332C>G (p.Thr111Ser)
c.341C>G (p.Thr114Ser)
1g.21564065C>TCA338877780ALPLc.497C>T (p.Thr166Ile)
n.557C>T
c.266C>T (p.Thr89Ile)
c.332C>T (p.Thr111Ile)
c.341C>T (p.Thr114Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564066C>ACA416527548ALPLc.498C>A (p.Thr166=)
n.558C>A
c.267C>A (p.Thr89=)
c.333C>A (p.Thr111=)
c.342C>A (p.Thr114=)
 ClinVar dbSNP gnomAD v4
1g.21564066C=CA1158014444ALPLc.498C= (p.Thr166=)
n.558C=
c.267C= (p.Thr89=)
c.333C= (p.Thr111=)
c.342C= (p.Thr114=)
1g.21564066C>GCA416527551ALPLc.498C>G (p.Thr166=)
n.558C>G
c.267C>G (p.Thr89=)
c.333C>G (p.Thr111=)
c.342C>G (p.Thr114=)
 ClinVar dbSNP
1g.21564066C>TCA416527549ALPLc.498C>T (p.Thr166=)
n.558C>T
c.267C>T (p.Thr89=)
c.333C>T (p.Thr111=)
c.342C>T (p.Thr114=)
1g.21564067A=CA1158014445ALPLc.499A= (p.Thr167=)
n.559A=
c.268A= (p.Thr90=)
c.334A= (p.Thr112=)
c.343A= (p.Thr115=)
1g.21564067A>CCA338877784ALPLc.499A>C (p.Thr167Pro)
n.559A>C
c.268A>C (p.Thr90Pro)
c.334A>C (p.Thr112Pro)
c.343A>C (p.Thr115Pro)
1g.21564067A>GCA338877785ALPLc.499A>G (p.Thr167Ala)
n.559A>G
c.268A>G (p.Thr90Ala)
c.334A>G (p.Thr112Ala)
c.343A>G (p.Thr115Ala)
 ClinVar dbSNP
1g.21564067A>TCA338877786ALPLc.499A>T (p.Thr167Ser)
n.559A>T
c.268A>T (p.Thr90Ser)
c.334A>T (p.Thr112Ser)
c.343A>T (p.Thr115Ser)
1g.21564068C>ACA338877787ALPLc.500C>A (p.Thr167Lys)
n.560C>A
c.269C>A (p.Thr90Lys)
c.335C>A (p.Thr112Lys)
c.344C>A (p.Thr115Lys)
 ClinVar dbSNP
1g.21564068C=CA1158014446ALPLc.500C= (p.Thr167=)
n.560C=
c.269C= (p.Thr90=)
c.335C= (p.Thr112=)
c.344C= (p.Thr115=)
1g.21564068C>GCA338877788ALPLc.500C>G (p.Thr167Arg)
n.560C>G
c.269C>G (p.Thr90Arg)
c.335C>G (p.Thr112Arg)
c.344C>G (p.Thr115Arg)
1g.21564068C>TCA338877789ALPLc.500C>T (p.Thr167Met)
n.560C>T
c.269C>T (p.Thr90Met)
c.335C>T (p.Thr112Met)
c.344C>T (p.Thr115Met)
 ClinVar dbSNP gnomAD v4
1g.21564068_21564096delCA2499214449ALPLc.500_528del (p.Thr167SerfsTer7)
n.560_588del
c.269_297del (p.Thr90SerfsTer7)
c.335_363del (p.Thr112SerfsTer7)
c.344_372del (p.Thr115SerfsTer7)
 dbSNP
1g.21564069G>ACA416527570ALPLc.501G>A (p.Thr167=)
n.561G>A
c.270G>A (p.Thr90=)
c.336G>A (p.Thr112=)
c.345G>A (p.Thr115=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564069G>CCA416527573ALPLc.501G>C (p.Thr167=)
n.561G>C
c.270G>C (p.Thr90=)
c.336G>C (p.Thr112=)
c.345G>C (p.Thr115=)
 dbSNP gnomAD v3 gnomAD v4
1g.21564069G=CA1158014447ALPLc.501G= (p.Thr167=)
n.561G=
c.270G= (p.Thr90=)
c.336G= (p.Thr112=)
c.345G= (p.Thr115=)
1g.21564069G>TCA416527567ALPLc.501G>T (p.Thr167=)
n.561G>T
c.270G>T (p.Thr90=)
c.336G>T (p.Thr112=)
c.345G>T (p.Thr115=)
1g.21564072_21564073delCA2695498631ALPLc.504_505del (p.Arg168SerfsTer15)
n.564_565del
c.273_274del (p.Arg91SerfsTer15)
c.339_340del (p.Arg113SerfsTer15)
c.348_349del (p.Arg116SerfsTer15)
 dbSNP
1g.21564070A>CCA416527576ALPLc.502A>C (p.Arg168=)
n.562A>C
c.271A>C (p.Arg91=)
c.337A>C (p.Arg113=)
c.346A>C (p.Arg116=)
1g.21564070A>GCA338877790ALPLc.502A>G (p.Arg168Gly)
n.562A>G
c.271A>G (p.Arg91Gly)
c.337A>G (p.Arg113Gly)
c.346A>G (p.Arg116Gly)
1g.21564070A>TCA338877791ALPLc.502A>T (p.Arg168Ter)
n.562A>T
c.271A>T (p.Arg91Ter)
c.337A>T (p.Arg113Ter)
c.346A>T (p.Arg116Ter)
1g.21564071G>ACA338877792ALPLc.503G>A (p.Arg168Lys)
n.563G>A
c.272G>A (p.Arg91Lys)
c.338G>A (p.Arg113Lys)
c.347G>A (p.Arg116Lys)
1g.21564071G>CCA338877793ALPLc.503G>C (p.Arg168Thr)
n.563G>C
c.272G>C (p.Arg91Thr)
c.338G>C (p.Arg113Thr)
c.347G>C (p.Arg116Thr)
1g.21564071G>TCA338877794ALPLc.503G>T (p.Arg168Ile)
n.563G>T
c.272G>T (p.Arg91Ile)
c.338G>T (p.Arg113Ile)
c.347G>T (p.Arg116Ile)
 gnomAD v4
1g.21564072A=CA1158014448ALPLc.504A= (p.Arg168=)
n.564A=
c.273A= (p.Arg91=)
c.339A= (p.Arg113=)
c.348A= (p.Arg116=)
1g.21564072A>CCA338877795ALPLc.504A>C (p.Arg168Ser)
n.564A>C
c.273A>C (p.Arg91Ser)
c.339A>C (p.Arg113Ser)
c.348A>C (p.Arg116Ser)
1g.21564072A>GCA416527589ALPLc.504A>G (p.Arg168=)
n.564A>G
c.273A>G (p.Arg91=)
c.339A>G (p.Arg113=)
c.348A>G (p.Arg116=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564072A>TCA338877796ALPLc.504A>T (p.Arg168Ser)
n.564A>T
c.273A>T (p.Arg91Ser)
c.339A>T (p.Arg113Ser)
c.348A>T (p.Arg116Ser)
 gnomAD v4
1g.21564073G>ACA338877799ALPLc.505G>A (p.Val169Met)
n.565G>A
c.274G>A (p.Val92Met)
c.340G>A (p.Val114Met)
c.349G>A (p.Val117Met)
1g.21564073G>CCA338877798ALPLc.505G>C (p.Val169Leu)
n.565G>C
c.274G>C (p.Val92Leu)
c.340G>C (p.Val114Leu)
c.349G>C (p.Val117Leu)
1g.21564073G>TCA338877797ALPLc.505G>T (p.Val169Leu)
n.565G>T
c.274G>T (p.Val92Leu)
c.340G>T (p.Val114Leu)
c.349G>T (p.Val117Leu)
 gnomAD v4
1g.21564074T>ACA338877800ALPLc.506T>A (p.Val169Glu)
n.566T>A
c.275T>A (p.Val92Glu)
c.341T>A (p.Val114Glu)
c.350T>A (p.Val117Glu)
1g.21564074T>CCA338877801ALPLc.506T>C (p.Val169Ala)
n.566T>C
c.275T>C (p.Val92Ala)
c.341T>C (p.Val114Ala)
c.350T>C (p.Val117Ala)
1g.21564074T>GCA338877802ALPLc.506T>G (p.Val169Gly)
n.566T>G
c.275T>G (p.Val92Gly)
c.341T>G (p.Val114Gly)
c.350T>G (p.Val117Gly)
1g.21564075G>ACA416527611ALPLc.507G>A (p.Val169=)
n.567G>A
c.276G>A (p.Val92=)
c.342G>A (p.Val114=)
c.351G>A (p.Val117=)
1g.21564075G>CCA416527608ALPLc.507G>C (p.Val169=)
n.567G>C
c.276G>C (p.Val92=)
c.342G>C (p.Val114=)
c.351G>C (p.Val117=)
1g.21564075G>TCA416527612ALPLc.507G>T (p.Val169=)
n.567G>T
c.276G>T (p.Val92=)
c.342G>T (p.Val114=)
c.351G>T (p.Val117=)
1g.21564076A>CCA338877803ALPLc.508A>C (p.Asn170His)
n.568A>C
c.277A>C (p.Asn93His)
c.343A>C (p.Asn115His)
c.352A>C (p.Asn118His)
1g.21564076A>GCA338877804ALPLc.508A>G (p.Asn170Asp)
n.568A>G
c.277A>G (p.Asn93Asp)
c.343A>G (p.Asn115Asp)
c.352A>G (p.Asn118Asp)
 ClinVar dbSNP gnomAD v4
1g.21564076A>TCA338877805ALPLc.508A>T (p.Asn170Tyr)
n.568A>T
c.277A>T (p.Asn93Tyr)
c.343A>T (p.Asn115Tyr)
c.352A>T (p.Asn118Tyr)
1g.21564077A>CCA338877806ALPLc.509A>C (p.Asn170Thr)
n.569A>C
c.278A>C (p.Asn93Thr)
c.344A>C (p.Asn115Thr)
c.353A>C (p.Asn118Thr)
1g.21564077A>GCA338877807ALPLc.509A>G (p.Asn170Ser)
n.569A>G
c.278A>G (p.Asn93Ser)
c.344A>G (p.Asn115Ser)
c.353A>G (p.Asn118Ser)
 COSMIC
1g.21564077A>TCA338877808ALPLc.509A>T (p.Asn170Ile)
n.569A>T
c.278A>T (p.Asn93Ile)
c.344A>T (p.Asn115Ile)
c.353A>T (p.Asn118Ile)
1g.21564078C>ACA338877809ALPLc.510C>A (p.Asn170Lys)
n.570C>A
c.279C>A (p.Asn93Lys)
c.345C>A (p.Asn115Lys)
c.354C>A (p.Asn118Lys)
1g.21564078C=CA1143959686ALPLc.510C= (p.Asn170=)
n.570C=
c.279C= (p.Asn93=)
c.345C= (p.Asn115=)
c.354C= (p.Asn118=)
1g.21564078C>GCA338877810ALPLc.510C>G (p.Asn170Lys)
n.570C>G
c.279C>G (p.Asn93Lys)
c.345C>G (p.Asn115Lys)
c.354C>G (p.Asn118Lys)
1g.21564078C>TCA666517ALPLc.510C>T (p.Asn170=)
n.570C>T
c.279C>T (p.Asn93=)
c.345C>T (p.Asn115=)
c.354C>T (p.Asn118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564079delCA2580061461ALPLc.511del (p.His171MetfsTer27)
n.571del
c.280del (p.His94MetfsTer27)
c.346del (p.His116MetfsTer27)
c.355del (p.His119MetfsTer27)
 ClinVar
1g.21564079C>ACA338877811ALPLc.511C>A (p.His171Asn)
n.571C>A
c.280C>A (p.His94Asn)
c.346C>A (p.His116Asn)
c.355C>A (p.His119Asn)
1g.21564079C>GCA338877812ALPLc.511C>G (p.His171Asp)
n.571C>G
c.280C>G (p.His94Asp)
c.346C>G (p.His116Asp)
c.355C>G (p.His119Asp)
 ClinVar
1g.21564079C>TCA338877814ALPLc.511C>T (p.His171Tyr)
n.571C>T
c.280C>T (p.His94Tyr)
c.346C>T (p.His116Tyr)
c.355C>T (p.His119Tyr)
 gnomAD v4
1g.21564080A=CA1158014449ALPLc.512A= (p.His171=)
n.572A=
c.281A= (p.His94=)
c.347A= (p.His116=)
c.356A= (p.His119=)
1g.21564080A>CCA338877818ALPLc.512A>C (p.His171Pro)
n.572A>C
c.281A>C (p.His94Pro)
c.347A>C (p.His116Pro)
c.356A>C (p.His119Pro)
1g.21564080A>GCA666518ALPLc.512A>G (p.His171Arg)
n.572A>G
c.281A>G (p.His94Arg)
c.347A>G (p.His116Arg)
c.356A>G (p.His119Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564080A>TCA338877817ALPLc.512A>T (p.His171Leu)
n.572A>T
c.281A>T (p.His94Leu)
c.347A>T (p.His116Leu)
c.356A>T (p.His119Leu)
1g.21564081T>ACA338877821ALPLc.513T>A (p.His171Gln)
n.573T>A
c.282T>A (p.His94Gln)
c.348T>A (p.His116Gln)
c.357T>A (p.His119Gln)
1g.21564081T>CCA416527661ALPLc.513T>C (p.His171=)
n.573T>C
c.282T>C (p.His94=)
c.348T>C (p.His116=)
c.357T>C (p.His119=)
 ClinVar gnomAD v4
1g.21564081T>GCA338877823ALPLc.513T>G (p.His171Gln)
n.573T>G
c.282T>G (p.His94Gln)
c.348T>G (p.His116Gln)
c.357T>G (p.His119Gln)
1g.21564082G>ACA338877826ALPLc.514G>A (p.Ala172Thr)
n.574G>A
c.283G>A (p.Ala95Thr)
c.349G>A (p.Ala117Thr)
c.358G>A (p.Ala120Thr)
1g.21564082G>CCA338877828ALPLc.514G>C (p.Ala172Pro)
n.574G>C
c.283G>C (p.Ala95Pro)
c.349G>C (p.Ala117Pro)
c.358G>C (p.Ala120Pro)
1g.21564082G>TCA338877829ALPLc.514G>T (p.Ala172Ser)
n.574G>T
c.283G>T (p.Ala95Ser)
c.349G>T (p.Ala117Ser)
c.358G>T (p.Ala120Ser)
1g.21564082_21564083delinsGCCA1158014450ALPLc.514_515delinsGC (p.Ala172=)
n.574_575delinsGC
c.283_284delinsGC (p.Ala95=)
c.349_350delinsGC (p.Ala117=)
c.358_359delinsGC (p.Ala120=)
1g.21564083C>ACA338877832ALPLc.515C>A (p.Ala172Asp)
n.575C>A
c.284C>A (p.Ala95Asp)
c.350C>A (p.Ala117Asp)
c.359C>A (p.Ala120Asp)
 ClinVar dbSNP
1g.21564083C=CA1158014452ALPLc.515C= (p.Ala172=)
n.575C=
c.284C= (p.Ala95=)
c.350C= (p.Ala117=)
c.359C= (p.Ala120=)
1g.21564083C>GCA338877834ALPLc.515C>G (p.Ala172Gly)
n.575C>G
c.284C>G (p.Ala95Gly)
c.350C>G (p.Ala117Gly)
c.359C>G (p.Ala120Gly)
1g.21564083C>TCA338877836ALPLc.515C>T (p.Ala172Val)
n.575C>T
c.284C>T (p.Ala95Val)
c.350C>T (p.Ala117Val)
c.359C>T (p.Ala120Val)
 ClinVar dbSNP
1g.21564084delCA1158014451ALPLc.516del (p.Thr173ProfsTer25)
n.576del
c.285del (p.Thr96ProfsTer25)
c.351del (p.Thr118ProfsTer25)
c.360del (p.Thr121ProfsTer25)
 dbSNP
1g.21564084C>ACA416527683ALPLc.516C>A (p.Ala172=)
n.576C>A
c.285C>A (p.Ala95=)
c.351C>A (p.Ala117=)
c.360C>A (p.Ala120=)
 ClinVar dbSNP
1g.21564084C>GCA416527685ALPLc.516C>G (p.Ala172=)
n.576C>G
c.285C>G (p.Ala95=)
c.351C>G (p.Ala117=)
c.360C>G (p.Ala120=)
1g.21564084C>TCA416527687ALPLc.516C>T (p.Ala172=)
n.576C>T
c.285C>T (p.Ala95=)
c.351C>T (p.Ala117=)
c.360C>T (p.Ala120=)
 gnomAD v4
1g.21564085A=CA1158014454ALPLc.517A= (p.Thr173=)
n.577A=
c.286A= (p.Thr96=)
c.352A= (p.Thr118=)
c.361A= (p.Thr121=)
1g.21564085A>CCA338877839ALPLc.517A>C (p.Thr173Pro)
n.577A>C
c.286A>C (p.Thr96Pro)
c.352A>C (p.Thr118Pro)
c.361A>C (p.Thr121Pro)
 dbSNP
1g.21564085A>GCA338877840ALPLc.517A>G (p.Thr173Ala)
n.577A>G
c.286A>G (p.Thr96Ala)
c.352A>G (p.Thr118Ala)
c.361A>G (p.Thr121Ala)
 ClinVar gnomAD v4
1g.21564085A>TCA338877842ALPLc.517A>T (p.Thr173Ser)
n.577A>T
c.286A>T (p.Thr96Ser)
c.352A>T (p.Thr118Ser)
c.361A>T (p.Thr121Ser)
1g.21564085_21564086delinsACCA1158014453ALPLc.517_518delinsAC (p.Thr173=)
n.577_578delinsAC
c.286_287delinsAC (p.Thr96=)
c.352_353delinsAC (p.Thr118=)
c.361_362delinsAC (p.Thr121=)
1g.21564086C>ACA338877851ALPLc.518C>A (p.Thr173Asn)
n.578C>A
c.287C>A (p.Thr96Asn)
c.353C>A (p.Thr118Asn)
c.362C>A (p.Thr121Asn)
1g.21564086C>GCA338877849ALPLc.518C>G (p.Thr173Ser)
n.578C>G
c.287C>G (p.Thr96Ser)
c.353C>G (p.Thr118Ser)
c.362C>G (p.Thr121Ser)
1g.21564086C>TCA338877853ALPLc.518C>T (p.Thr173Ile)
n.578C>T
c.287C>T (p.Thr96Ile)
c.353C>T (p.Thr118Ile)
c.362C>T (p.Thr121Ile)
 ClinVar gnomAD v4
1g.21564090dupCA2643930480ALPLc.522dup (p.Ser175GlnfsTer9)
n.582dup
c.291dup (p.Ser98GlnfsTer9)
c.357dup (p.Ser120GlnfsTer9)
c.366dup (p.Ser123GlnfsTer9)
 gnomAD v4
1g.21564090delCA666519ALPLc.522del (p.Ser175AlafsTer23)
n.582del
c.291del (p.Ser98AlafsTer23)
c.357del (p.Ser120AlafsTer23)
c.366del (p.Ser123AlafsTer23)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21564087C>ACA416527708ALPLc.519C>A (p.Thr173=)
n.579C>A
c.288C>A (p.Thr96=)
c.354C>A (p.Thr118=)
c.363C>A (p.Thr121=)
1g.21564087C>GCA416527714ALPLc.519C>G (p.Thr173=)
n.579C>G
c.288C>G (p.Thr96=)
c.354C>G (p.Thr118=)
c.363C>G (p.Thr121=)
1g.21564087C>TCA416527710ALPLc.519C>T (p.Thr173=)
n.579C>T
c.288C>T (p.Thr96=)
c.354C>T (p.Thr118=)
c.363C>T (p.Thr121=)
1g.21564088C>ACA338877855ALPLc.520C>A (p.Pro174Thr)
n.580C>A
c.289C>A (p.Pro97Thr)
c.355C>A (p.Pro119Thr)
c.364C>A (p.Pro122Thr)
1g.21564088C>GCA338877857ALPLc.520C>G (p.Pro174Ala)
n.580C>G
c.289C>G (p.Pro97Ala)
c.355C>G (p.Pro119Ala)
c.364C>G (p.Pro122Ala)
1g.21564088C>TCA338877859ALPLc.520C>T (p.Pro174Ser)
n.580C>T
c.289C>T (p.Pro97Ser)
c.355C>T (p.Pro119Ser)
c.364C>T (p.Pro122Ser)
 ClinVar gnomAD v4
1g.21564089C>ACA338877861ALPLc.521C>A (p.Pro174His)
n.581C>A
c.290C>A (p.Pro97His)
c.356C>A (p.Pro119His)
c.365C>A (p.Pro122His)
1g.21564089C>GCA338877863ALPLc.521C>G (p.Pro174Arg)
n.581C>G
c.290C>G (p.Pro97Arg)
c.356C>G (p.Pro119Arg)
c.365C>G (p.Pro122Arg)
1g.21564089C>TCA338877865ALPLc.521C>T (p.Pro174Leu)
n.581C>T
c.290C>T (p.Pro97Leu)
c.356C>T (p.Pro119Leu)
c.365C>T (p.Pro122Leu)
1g.21564090C>ACA416527731ALPLc.522C>A (p.Pro174=)
n.582C>A
c.291C>A (p.Pro97=)
c.357C>A (p.Pro119=)
c.366C>A (p.Pro122=)
1g.21564090C>GCA416527730ALPLc.522C>G (p.Pro174=)
n.582C>G
c.291C>G (p.Pro97=)
c.357C>G (p.Pro119=)
c.366C>G (p.Pro122=)
1g.21564090C>TCA416527733ALPLc.522C>T (p.Pro174=)
n.582C>T
c.291C>T (p.Pro97=)
c.357C>T (p.Pro119=)
c.366C>T (p.Pro122=)
 ClinVar
1g.21564091A=CA1158014455ALPLc.523A= (p.Ser175=)
n.583A=
c.292A= (p.Ser98=)
c.358A= (p.Ser120=)
c.367A= (p.Ser123=)
1g.21564091A>CCA338877867ALPLc.523A>C (p.Ser175Arg)
n.583A>C
c.292A>C (p.Ser98Arg)
c.358A>C (p.Ser120Arg)
c.367A>C (p.Ser123Arg)
 dbSNP gnomAD v4
1g.21564091A>GCA338877869ALPLc.523A>G (p.Ser175Gly)
n.583A>G
c.292A>G (p.Ser98Gly)
c.358A>G (p.Ser120Gly)
c.367A>G (p.Ser123Gly)
 gnomAD v4
1g.21564091A>TCA338877871ALPLc.523A>T (p.Ser175Cys)
n.583A>T
c.292A>T (p.Ser98Cys)
c.358A>T (p.Ser120Cys)
c.367A>T (p.Ser123Cys)
1g.21564092G>ACA338877874ALPLc.524G>A (p.Ser175Asn)
n.584G>A
c.293G>A (p.Ser98Asn)
c.359G>A (p.Ser120Asn)
c.368G>A (p.Ser123Asn)
1g.21564092G>CCA338877876ALPLc.524G>C (p.Ser175Thr)
n.584G>C
c.293G>C (p.Ser98Thr)
c.359G>C (p.Ser120Thr)
c.368G>C (p.Ser123Thr)
1g.21564092G>TCA338877877ALPLc.524G>T (p.Ser175Ile)
n.584G>T
c.293G>T (p.Ser98Ile)
c.359G>T (p.Ser120Ile)
c.368G>T (p.Ser123Ile)
1g.21564093C>ACA338877880ALPLc.525C>A (p.Ser175Arg)
n.585C>A
c.294C>A (p.Ser98Arg)
c.360C>A (p.Ser120Arg)
c.369C>A (p.Ser123Arg)
1g.21564093C=CA1158014456ALPLc.525C= (p.Ser175=)
n.585C=
c.294C= (p.Ser98=)
c.360C= (p.Ser120=)
c.369C= (p.Ser123=)
1g.21564093C>GCA338877883ALPLc.525C>G (p.Ser175Arg)
n.585C>G
c.294C>G (p.Ser98Arg)
c.360C>G (p.Ser120Arg)
c.369C>G (p.Ser123Arg)
1g.21564093C>TCA19060205ALPLc.525C>T (p.Ser175=)
n.585C>T
c.294C>T (p.Ser98=)
c.360C>T (p.Ser120=)
c.369C>T (p.Ser123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564094G>ACA256935ALPLc.526G>A (p.Ala176Thr)
n.586G>A
c.295G>A (p.Ala99Thr)
c.361G>A (p.Ala121Thr)
c.370G>A (p.Ala124Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564094G>CCA338877888ALPLc.526G>C (p.Ala176Pro)
n.586G>C
c.295G>C (p.Ala99Pro)
c.361G>C (p.Ala121Pro)
c.370G>C (p.Ala124Pro)
 dbSNP
1g.21564094G=CA1141580637ALPLc.526G= (p.Ala176=)
n.586G=
c.295G= (p.Ala99=)
c.361G= (p.Ala121=)
c.370G= (p.Ala124=)
1g.21564094G>TCA338877886ALPLc.526G>T (p.Ala176Ser)
n.586G>T
c.295G>T (p.Ala99Ser)
c.361G>T (p.Ala121Ser)
c.370G>T (p.Ala124Ser)
1g.21564095C>ACA338877891ALPLc.527C>A (p.Ala176Asp)
n.587C>A
c.296C>A (p.Ala99Asp)
c.362C>A (p.Ala121Asp)
c.371C>A (p.Ala124Asp)
1g.21564095C>GCA338877893ALPLc.527C>G (p.Ala176Gly)
n.587C>G
c.296C>G (p.Ala99Gly)
c.362C>G (p.Ala121Gly)
c.371C>G (p.Ala124Gly)
1g.21564095C>TCA338877895ALPLc.527C>T (p.Ala176Val)
n.587C>T
c.296C>T (p.Ala99Val)
c.362C>T (p.Ala121Val)
c.371C>T (p.Ala124Val)
 ClinVar
1g.21564096C>ACA416527766ALPLc.528C>A (p.Ala176=)
n.588C>A
c.297C>A (p.Ala99=)
c.363C>A (p.Ala121=)
c.372C>A (p.Ala124=)
1g.21564096C=CA1158014457ALPLc.528C= (p.Ala176=)
n.588C=
c.297C= (p.Ala99=)
c.363C= (p.Ala121=)
c.372C= (p.Ala124=)
1g.21564096C>GCA416527769ALPLc.528C>G (p.Ala176=)
n.588C>G
c.297C>G (p.Ala99=)
c.363C>G (p.Ala121=)
c.372C>G (p.Ala124=)
1g.21564096C>TCA666520ALPLc.528C>T (p.Ala176=)
n.588C>T
c.297C>T (p.Ala99=)
c.363C>T (p.Ala121=)
c.372C>T (p.Ala124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564097G>ACA666521ALPLc.529G>A (p.Ala177Thr)
n.589G>A
c.298G>A (p.Ala100Thr)
c.364G>A (p.Ala122Thr)
c.373G>A (p.Ala125Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564097G>CCA338877900ALPLc.529G>C (p.Ala177Pro)
n.589G>C
c.298G>C (p.Ala100Pro)
c.364G>C (p.Ala122Pro)
c.373G>C (p.Ala125Pro)
1g.21564097G=CA1143366459ALPLc.529G= (p.Ala177=)
n.589G=
c.298G= (p.Ala100=)
c.364G= (p.Ala122=)
c.373G= (p.Ala125=)
1g.21564097G>TCA338877902ALPLc.529G>T (p.Ala177Ser)
n.589G>T
c.298G>T (p.Ala100Ser)
c.364G>T (p.Ala122Ser)
c.373G>T (p.Ala125Ser)
 ClinVar gnomAD v4 COSMIC
1g.21564098C>ACA338877905ALPLc.530C>A (p.Ala177Asp)
n.590C>A
c.299C>A (p.Ala100Asp)
c.365C>A (p.Ala122Asp)
c.374C>A (p.Ala125Asp)
1g.21564098C=CA1158014458ALPLc.530C= (p.Ala177=)
n.590C=
c.299C= (p.Ala100=)
c.365C= (p.Ala122=)
c.374C= (p.Ala125=)
1g.21564098C>GCA338877906ALPLc.530C>G (p.Ala177Gly)
n.590C>G
c.299C>G (p.Ala100Gly)
c.365C>G (p.Ala122Gly)
c.374C>G (p.Ala125Gly)
1g.21564098C>TCA338877907ALPLc.530C>T (p.Ala177Val)
n.590C>T
c.299C>T (p.Ala100Val)
c.365C>T (p.Ala122Val)
c.374C>T (p.Ala125Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21564099C>ACA416527787ALPLc.531C>A (p.Ala177=)
n.591C>A
c.300C>A (p.Ala100=)
c.366C>A (p.Ala122=)
c.375C>A (p.Ala125=)
1g.21564099C=CA1148411941ALPLc.531C= (p.Ala177=)
n.591C=
c.300C= (p.Ala100=)
c.366C= (p.Ala122=)
c.375C= (p.Ala125=)
1g.21564099C>GCA666522ALPLc.531C>G (p.Ala177=)
n.591C>G
c.300C>G (p.Ala100=)
c.366C>G (p.Ala122=)
c.375C>G (p.Ala125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564099C>TCA416527789ALPLc.531C>T (p.Ala177=)
n.591C>T
c.300C>T (p.Ala100=)
c.366C>T (p.Ala122=)
c.375C>T (p.Ala125=)
1g.21564100T>ACA338877916ALPLc.532T>A (p.Tyr178Asn)
n.592T>A
c.301T>A (p.Tyr101Asn)
c.367T>A (p.Tyr123Asn)
c.376T>A (p.Tyr126Asn)
1g.21564100T>CCA338877913ALPLc.532T>C (p.Tyr178His)
n.592T>C
c.301T>C (p.Tyr101His)
c.367T>C (p.Tyr123His)
c.376T>C (p.Tyr126His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564100T>GCA338877911ALPLc.532T>G (p.Tyr178Asp)
n.592T>G
c.301T>G (p.Tyr101Asp)
c.367T>G (p.Tyr123Asp)
c.376T>G (p.Tyr126Asp)
1g.21564100T=CA1158014459ALPLc.532T= (p.Tyr178=)
n.592T=
c.301T= (p.Tyr101=)
c.367T= (p.Tyr123=)
c.376T= (p.Tyr126=)
1g.21564101A>CCA338877918ALPLc.533A>C (p.Tyr178Ser)
n.593A>C
c.302A>C (p.Tyr101Ser)
c.368A>C (p.Tyr123Ser)
c.377A>C (p.Tyr126Ser)
1g.21564101A>GCA338877920ALPLc.533A>G (p.Tyr178Cys)
n.593A>G
c.302A>G (p.Tyr101Cys)
c.368A>G (p.Tyr123Cys)
c.377A>G (p.Tyr126Cys)
1g.21564101A>TCA338877921ALPLc.533A>T (p.Tyr178Phe)
n.593A>T
c.302A>T (p.Tyr101Phe)
c.368A>T (p.Tyr123Phe)
c.377A>T (p.Tyr126Phe)
1g.21564102C>ACA338877924ALPLc.534C>A (p.Tyr178Ter)
n.594C>A
c.303C>A (p.Tyr101Ter)
c.369C>A (p.Tyr123Ter)
c.378C>A (p.Tyr126Ter)
 ClinVar dbSNP
1g.21564102C=CA1143469607ALPLc.534C= (p.Tyr178=)
n.594C=
c.303C= (p.Tyr101=)
c.369C= (p.Tyr123=)
c.378C= (p.Tyr126=)
1g.21564102C>GCA666524ALPLc.534C>G (p.Tyr178Ter)
n.594C>G
c.303C>G (p.Tyr101Ter)
c.369C>G (p.Tyr123Ter)
c.378C>G (p.Tyr126Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564102C>TCA666523ALPLc.534C>T (p.Tyr178=)
n.594C>T
c.303C>T (p.Tyr101=)
c.369C>T (p.Tyr123=)
c.378C>T (p.Tyr126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched