Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1044077C>ACA1148774025AGRNc.2000-32C>A (n.2000-32C>A)
c.1685-32C>A (n.1685-32C>A)
c.1586-32C>A (n.1586-32C>A)
c.1127-32C>A (n.1127-32C>A)
c.266-32C>A (n.266-32C>A)
n.2067-32C>A
n.2071-32C>A
 dbSNP
1g.1044077C=CA1148774024AGRNc.2000-32C= (n.2000-32C=)
c.1685-32C= (n.1685-32C=)
c.1586-32C= (n.1586-32C=)
c.1127-32C= (n.1127-32C=)
c.266-32C= (n.266-32C=)
n.2067-32C=
n.2071-32C=
1g.1044077C>TCA508423AGRNc.2000-32C>T (n.2000-32C>T)
c.1685-32C>T (n.1685-32C>T)
c.1586-32C>T (n.1586-32C>T)
c.1127-32C>T (n.1127-32C>T)
c.266-32C>T (n.266-32C>T)
n.2067-32C>T
n.2071-32C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044080delCA2642490964AGRNc.2000-29del (n.2000-29del)
c.1685-29del (n.1685-29del)
c.1586-29del (n.1586-29del)
c.1127-29del (n.1127-29del)
c.266-29del (n.266-29del)
n.2067-29del
n.2071-29del
 gnomAD v4
1g.1044078C>TCA2573336501AGRNc.2000-31C>T (n.2000-31C>T)
c.1685-31C>T (n.1685-31C>T)
c.1586-31C>T (n.1586-31C>T)
c.1127-31C>T (n.1127-31C>T)
c.266-31C>T (n.266-31C>T)
n.2067-31C>T
n.2071-31C>T
 gnomAD v4
1g.1044079C>ACA2642490965AGRNc.2000-30C>A (n.2000-30C>A)
c.1685-30C>A (n.1685-30C>A)
c.1586-30C>A (n.1586-30C>A)
c.1127-30C>A (n.1127-30C>A)
c.266-30C>A (n.266-30C>A)
n.2067-30C>A
n.2071-30C>A
 gnomAD v4
1g.1044079C=CA1148774030AGRNc.2000-30C= (n.2000-30C=)
c.1685-30C= (n.1685-30C=)
c.1586-30C= (n.1586-30C=)
c.1127-30C= (n.1127-30C=)
c.266-30C= (n.266-30C=)
n.2067-30C=
n.2071-30C=
1g.1044079C>GCA508424AGRNc.2000-30C>G (n.2000-30C>G)
c.1685-30C>G (n.1685-30C>G)
c.1586-30C>G (n.1586-30C>G)
c.1127-30C>G (n.1127-30C>G)
c.266-30C>G (n.266-30C>G)
n.2067-30C>G
n.2071-30C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044079C>TCA2573336505AGRNc.2000-30C>T (n.2000-30C>T)
c.1685-30C>T (n.1685-30C>T)
c.1586-30C>T (n.1586-30C>T)
c.1127-30C>T (n.1127-30C>T)
c.266-30C>T (n.266-30C>T)
n.2067-30C>T
n.2071-30C>T
 gnomAD v4
1g.1044080C=CA1148774091AGRNc.2000-29C= (n.2000-29C=)
c.1685-29C= (n.1685-29C=)
c.1586-29C= (n.1586-29C=)
c.1127-29C= (n.1127-29C=)
c.266-29C= (n.266-29C=)
n.2067-29C=
n.2071-29C=
1g.1044080C>GCA997652285AGRNc.2000-29C>G (n.2000-29C>G)
c.1685-29C>G (n.1685-29C>G)
c.1586-29C>G (n.1586-29C>G)
c.1127-29C>G (n.1127-29C>G)
c.266-29C>G (n.266-29C>G)
n.2067-29C>G
n.2071-29C>G
 dbSNP gnomAD v3 gnomAD v4
1g.1044080C>TCA1148774093AGRNc.2000-29C>T (n.2000-29C>T)
c.1685-29C>T (n.1685-29C>T)
c.1586-29C>T (n.1586-29C>T)
c.1127-29C>T (n.1127-29C>T)
c.266-29C>T (n.266-29C>T)
n.2067-29C>T
n.2071-29C>T
 dbSNP
1g.1044081T>CCA508425AGRNc.2000-28T>C (n.2000-28T>C)
c.1685-28T>C (n.1685-28T>C)
c.1586-28T>C (n.1586-28T>C)
c.1127-28T>C (n.1127-28T>C)
c.266-28T>C (n.266-28T>C)
n.2067-28T>C
n.2071-28T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044081T=CA1148774095AGRNc.2000-28T= (n.2000-28T=)
c.1685-28T= (n.1685-28T=)
c.1586-28T= (n.1586-28T=)
c.1127-28T= (n.1127-28T=)
c.266-28T= (n.266-28T=)
n.2067-28T=
n.2071-28T=
1g.1044082G>ACA2573336514AGRNc.2000-27G>A (n.2000-27G>A)
c.1685-27G>A (n.1685-27G>A)
c.1586-27G>A (n.1586-27G>A)
c.1127-27G>A (n.1127-27G>A)
c.266-27G>A (n.266-27G>A)
n.2067-27G>A
n.2071-27G>A
1g.1044082G=CA1148774101AGRNc.2000-27G= (n.2000-27G=)
c.1685-27G= (n.1685-27G=)
c.1586-27G= (n.1586-27G=)
c.1127-27G= (n.1127-27G=)
c.266-27G= (n.266-27G=)
n.2067-27G=
n.2071-27G=
1g.1044082G>TCA508426AGRNc.2000-27G>T (n.2000-27G>T)
c.1685-27G>T (n.1685-27G>T)
c.1586-27G>T (n.1586-27G>T)
c.1127-27G>T (n.1127-27G>T)
c.266-27G>T (n.266-27G>T)
n.2067-27G>T
n.2071-27G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044084delCA2642490966AGRNc.2000-25del (n.2000-25del)
c.1685-25del (n.1685-25del)
c.1586-25del (n.1586-25del)
c.1127-25del (n.1127-25del)
c.266-25del (n.266-25del)
n.2067-25del
n.2071-25del
 gnomAD v4
1g.1044083G>CCA520658926AGRNc.2000-26G>C (n.2000-26G>C)
c.1685-26G>C (n.1685-26G>C)
c.1586-26G>C (n.1586-26G>C)
c.1127-26G>C (n.1127-26G>C)
c.266-26G>C (n.266-26G>C)
n.2067-26G>C
n.2071-26G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1044083G=CA1148774107AGRNc.2000-26G= (n.2000-26G=)
c.1685-26G= (n.1685-26G=)
c.1586-26G= (n.1586-26G=)
c.1127-26G= (n.1127-26G=)
c.266-26G= (n.266-26G=)
n.2067-26G=
n.2071-26G=
1g.1044084G>ACA520658927AGRNc.2000-25G>A (n.2000-25G>A)
c.1685-25G>A (n.1685-25G>A)
c.1586-25G>A (n.1586-25G>A)
c.1127-25G>A (n.1127-25G>A)
c.266-25G>A (n.266-25G>A)
n.2067-25G>A
n.2071-25G>A
 dbSNP gnomAD v2
1g.1044084G=CA1148774109AGRNc.2000-25G= (n.2000-25G=)
c.1685-25G= (n.1685-25G=)
c.1586-25G= (n.1586-25G=)
c.1127-25G= (n.1127-25G=)
c.266-25G= (n.266-25G=)
n.2067-25G=
n.2071-25G=
1g.1044088C>GCA2642490968AGRNc.2000-21C>G (n.2000-21C>G)
c.1685-21C>G (n.1685-21C>G)
c.1586-21C>G (n.1586-21C>G)
c.1127-21C>G (n.1127-21C>G)
c.266-21C>G (n.266-21C>G)
n.2067-21C>G
n.2071-21C>G
 gnomAD v4
1g.1044090_1044091delCA2642490967AGRNc.2000-19_2000-18del (n.2000-19_2000-18del)
c.1685-19_1685-18del (n.1685-19_1685-18del)
c.1586-19_1586-18del (n.1586-19_1586-18del)
c.1127-19_1127-18del (n.1127-19_1127-18del)
c.266-19_266-18del (n.266-19_266-18del)
n.2067-19_2067-18del
n.2071-19_2071-18del
 gnomAD v4
1g.1044089T>CCA520658928AGRNc.2000-20T>C (n.2000-20T>C)
c.1685-20T>C (n.1685-20T>C)
c.1586-20T>C (n.1586-20T>C)
c.1127-20T>C (n.1127-20T>C)
c.266-20T>C (n.266-20T>C)
n.2067-20T>C
n.2071-20T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1044089T=CA1148774132AGRNc.2000-20T= (n.2000-20T=)
c.1685-20T= (n.1685-20T=)
c.1586-20T= (n.1586-20T=)
c.1127-20T= (n.1127-20T=)
c.266-20T= (n.266-20T=)
n.2067-20T=
n.2071-20T=
1g.1044090C=CA1148774144AGRNc.2000-19C= (n.2000-19C=)
c.1685-19C= (n.1685-19C=)
c.1586-19C= (n.1586-19C=)
c.1127-19C= (n.1127-19C=)
c.266-19C= (n.266-19C=)
n.2067-19C=
n.2071-19C=
1g.1044090C>GCA1148774201AGRNc.2000-19C>G (n.2000-19C>G)
c.1685-19C>G (n.1685-19C>G)
c.1586-19C>G (n.1586-19C>G)
c.1127-19C>G (n.1127-19C>G)
c.266-19C>G (n.266-19C>G)
n.2067-19C>G
n.2071-19C>G
 dbSNP gnomAD v4
1g.1044092G>CCA2573336518AGRNc.2000-17G>C (n.2000-17G>C)
c.1685-17G>C (n.1685-17G>C)
c.1586-17G>C (n.1586-17G>C)
c.1127-17G>C (n.1127-17G>C)
c.266-17G>C (n.266-17G>C)
n.2067-17G>C
n.2071-17G>C
1g.1044092G>TCA2642490969AGRNc.2000-17G>T (n.2000-17G>T)
c.1685-17G>T (n.1685-17G>T)
c.1586-17G>T (n.1586-17G>T)
c.1127-17G>T (n.1127-17G>T)
c.266-17G>T (n.266-17G>T)
n.2067-17G>T
n.2071-17G>T
 gnomAD v4
1g.1044094T>CCA2642490970AGRNc.2000-15T>C (n.2000-15T>C)
c.1685-15T>C (n.1685-15T>C)
c.1586-15T>C (n.1586-15T>C)
c.1127-15T>C (n.1127-15T>C)
c.266-15T>C (n.266-15T>C)
n.2067-15T>C
n.2071-15T>C
 gnomAD v4
1g.1044095C>TCA2574258280AGRNc.2000-14C>T (n.2000-14C>T)
c.1685-14C>T (n.1685-14C>T)
c.1586-14C>T (n.1586-14C>T)
c.1127-14C>T (n.1127-14C>T)
c.266-14C>T (n.266-14C>T)
n.2067-14C>T
n.2071-14C>T
1g.1044096C>ACA884820597AGRNc.2000-13C>A (n.2000-13C>A)
c.1685-13C>A (n.1685-13C>A)
c.1586-13C>A (n.1586-13C>A)
c.1127-13C>A (n.1127-13C>A)
c.266-13C>A (n.266-13C>A)
n.2067-13C>A
n.2071-13C>A
 dbSNP gnomAD v4
1g.1044096C=CA1148774208AGRNc.2000-13C= (n.2000-13C=)
c.1685-13C= (n.1685-13C=)
c.1586-13C= (n.1586-13C=)
c.1127-13C= (n.1127-13C=)
c.266-13C= (n.266-13C=)
n.2067-13C=
n.2071-13C=
1g.1044096C>TCA2642490971AGRNc.2000-13C>T (n.2000-13C>T)
c.1685-13C>T (n.1685-13C>T)
c.1586-13C>T (n.1586-13C>T)
c.1127-13C>T (n.1127-13C>T)
c.266-13C>T (n.266-13C>T)
n.2067-13C>T
n.2071-13C>T
 gnomAD v4
1g.1044097C>ACA2742134788AGRNc.2000-12C>A (n.2000-12C>A)
c.1685-12C>A (n.1685-12C>A)
c.1586-12C>A (n.1586-12C>A)
c.1127-12C>A (n.1127-12C>A)
c.266-12C>A (n.266-12C>A)
n.2067-12C>A
n.2071-12C>A
1g.1044097C>GCA2574258281AGRNc.2000-12C>G (n.2000-12C>G)
c.1685-12C>G (n.1685-12C>G)
c.1586-12C>G (n.1586-12C>G)
c.1127-12C>G (n.1127-12C>G)
c.266-12C>G (n.266-12C>G)
n.2067-12C>G
n.2071-12C>G
1g.1044098C>GCA2642490972AGRNc.2000-11C>G (n.2000-11C>G)
c.1685-11C>G (n.1685-11C>G)
c.1586-11C>G (n.1586-11C>G)
c.1127-11C>G (n.1127-11C>G)
c.266-11C>G (n.266-11C>G)
n.2067-11C>G
n.2071-11C>G
 gnomAD v4
1g.1044099T>GCA1148774232AGRNc.2000-10T>G (n.2000-10T>G)
c.1685-10T>G (n.1685-10T>G)
c.1586-10T>G (n.1586-10T>G)
c.1127-10T>G (n.1127-10T>G)
c.266-10T>G (n.266-10T>G)
n.2067-10T>G
n.2071-10T>G
 dbSNP gnomAD v4
1g.1044099T=CA1148774213AGRNc.2000-10T= (n.2000-10T=)
c.1685-10T= (n.1685-10T=)
c.1586-10T= (n.1586-10T=)
c.1127-10T= (n.1127-10T=)
c.266-10T= (n.266-10T=)
n.2067-10T=
n.2071-10T=
1g.1044100delCA2642490973AGRNc.2000-9del (n.2000-9del)
c.1685-9del (n.1685-9del)
c.1586-9del (n.1586-9del)
c.1127-9del (n.1127-9del)
c.266-9del (n.266-9del)
n.2067-9del
n.2071-9del
 gnomAD v4
1g.1044100_1044102delinsTCCCA1148774239AGRNc.2000-9_2000-7delinsTCC (n.2000-9_2000-7delinsTCC)
c.1685-9_1685-7delinsTCC (n.1685-9_1685-7delinsTCC)
c.1586-9_1586-7delinsTCC (n.1586-9_1586-7delinsTCC)
c.1127-9_1127-7delinsTCC (n.1127-9_1127-7delinsTCC)
c.266-9_266-7delinsTCC (n.266-9_266-7delinsTCC)
n.2067-9_2067-7delinsTCC
n.2071-9_2071-7delinsTCC
1g.1044101C=CA1148774281AGRNc.2000-8C= (n.2000-8C=)
c.1685-8C= (n.1685-8C=)
c.1586-8C= (n.1586-8C=)
c.1127-8C= (n.1127-8C=)
c.266-8C= (n.266-8C=)
n.2067-8C=
n.2071-8C=
1g.1044101C>GCA2695245838AGRNc.2000-8C>G (n.2000-8C>G)
c.1685-8C>G (n.1685-8C>G)
c.1586-8C>G (n.1586-8C>G)
c.1127-8C>G (n.1127-8C>G)
c.266-8C>G (n.266-8C>G)
n.2067-8C>G
n.2071-8C>G
 dbSNP
1g.1044101C>TCA508427AGRNc.2000-8C>T (n.2000-8C>T)
c.1685-8C>T (n.1685-8C>T)
c.1586-8C>T (n.1586-8C>T)
c.1127-8C>T (n.1127-8C>T)
c.266-8C>T (n.266-8C>T)
n.2067-8C>T
n.2071-8C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044103_1044104delCA997652289AGRNc.2000-6_2000-5del (n.2000-6_2000-5del)
c.1685-6_1685-5del (n.1685-6_1685-5del)
c.1586-6_1586-5del (n.1586-6_1586-5del)
c.1127-6_1127-5del (n.1127-6_1127-5del)
c.266-6_266-5del (n.266-6_266-5del)
n.2067-6_2067-5del
n.2071-6_2071-5del
 dbSNP
1g.1044102C>TCA2742134789AGRNc.2000-7C>T (n.2000-7C>T)
c.1685-7C>T (n.1685-7C>T)
c.1586-7C>T (n.1586-7C>T)
c.1127-7C>T (n.1127-7C>T)
c.266-7C>T (n.266-7C>T)
n.2067-7C>T
n.2071-7C>T
1g.1044103C=CA1148774289AGRNc.2000-6C= (n.2000-6C=)
c.1685-6C= (n.1685-6C=)
c.1586-6C= (n.1586-6C=)
c.1127-6C= (n.1127-6C=)
c.266-6C= (n.266-6C=)
n.2067-6C=
n.2071-6C=
1g.1044103C>TCA520658929AGRNc.2000-6C>T (n.2000-6C>T)
c.1685-6C>T (n.1685-6C>T)
c.1586-6C>T (n.1586-6C>T)
c.1127-6C>T (n.1127-6C>T)
c.266-6C>T (n.266-6C>T)
n.2067-6C>T
n.2071-6C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044104C>ACA2574258282AGRNc.2000-5C>A (n.2000-5C>A)
c.1685-5C>A (n.1685-5C>A)
c.1586-5C>A (n.1586-5C>A)
c.1127-5C>A (n.1127-5C>A)
c.266-5C>A (n.266-5C>A)
n.2067-5C>A
n.2071-5C>A
 gnomAD v4
1g.1044104C=CA1148774308AGRNc.2000-5C= (n.2000-5C=)
c.1685-5C= (n.1685-5C=)
c.1586-5C= (n.1586-5C=)
c.1127-5C= (n.1127-5C=)
c.266-5C= (n.266-5C=)
n.2067-5C=
n.2071-5C=
1g.1044104C>GCA508429AGRNc.2000-5C>G (n.2000-5C>G)
c.1685-5C>G (n.1685-5C>G)
c.1586-5C>G (n.1586-5C>G)
c.1127-5C>G (n.1127-5C>G)
c.266-5C>G (n.266-5C>G)
n.2067-5C>G
n.2071-5C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044104C>TCA508428AGRNc.2000-5C>T (n.2000-5C>T)
c.1685-5C>T (n.1685-5C>T)
c.1586-5C>T (n.1586-5C>T)
c.1127-5C>T (n.1127-5C>T)
c.266-5C>T (n.266-5C>T)
n.2067-5C>T
n.2071-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044105G>ACA508430AGRNc.2000-4G>A (n.2000-4G>A)
c.1685-4G>A (n.1685-4G>A)
c.1586-4G>A (n.1586-4G>A)
c.1127-4G>A (n.1127-4G>A)
c.266-4G>A (n.266-4G>A)
n.2067-4G>A
n.2071-4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044105G=CA1143787637AGRNc.2000-4G= (n.2000-4G=)
c.1685-4G= (n.1685-4G=)
c.1586-4G= (n.1586-4G=)
c.1127-4G= (n.1127-4G=)
c.266-4G= (n.266-4G=)
n.2067-4G=
n.2071-4G=
1g.1044105G>TCA884820602AGRNc.2000-4G>T (n.2000-4G>T)
c.1685-4G>T (n.1685-4G>T)
c.1586-4G>T (n.1586-4G>T)
c.1127-4G>T (n.1127-4G>T)
c.266-4G>T (n.266-4G>T)
n.2067-4G>T
n.2071-4G>T
 dbSNP
1g.1044106C>ACA884820603AGRNc.2000-3C>A (n.2000-3C>A)
c.1685-3C>A (n.1685-3C>A)
c.1586-3C>A (n.1586-3C>A)
c.1127-3C>A (n.1127-3C>A)
c.266-3C>A (n.266-3C>A)
n.2067-3C>A
n.2071-3C>A
 dbSNP gnomAD v3 gnomAD v4
1g.1044106C=CA1148774341AGRNc.2000-3C= (n.2000-3C=)
c.1685-3C= (n.1685-3C=)
c.1586-3C= (n.1586-3C=)
c.1127-3C= (n.1127-3C=)
c.266-3C= (n.266-3C=)
n.2067-3C=
n.2071-3C=
1g.1044106C>TCA2580061058AGRNc.2000-3C>T (n.2000-3C>T)
c.1685-3C>T (n.1685-3C>T)
c.1586-3C>T (n.1586-3C>T)
c.1127-3C>T (n.1127-3C>T)
c.266-3C>T (n.266-3C>T)
n.2067-3C>T
n.2071-3C>T
 ClinVar gnomAD v4
1g.1044107A=CA1148774347AGRNc.2000-2A= (n.2000-2A=)
c.1685-2A= (n.1685-2A=)
c.1586-2A= (n.1586-2A=)
c.1127-2A= (n.1127-2A=)
c.266-2A= (n.266-2A=)
n.2067-2A=
n.2071-2A=
1g.1044107A>CCA337835786AGRNc.2000-2A>C (n.2000-2A>C)
c.1685-2A>C (n.1685-2A>C)
c.1586-2A>C (n.1586-2A>C)
c.1127-2A>C (n.1127-2A>C)
c.266-2A>C (n.266-2A>C)
n.2067-2A>C
n.2071-2A>C
1g.1044107A>GCA337835789AGRNc.2000-2A>G (n.2000-2A>G)
c.1685-2A>G (n.1685-2A>G)
c.1586-2A>G (n.1586-2A>G)
c.1127-2A>G (n.1127-2A>G)
c.266-2A>G (n.266-2A>G)
n.2067-2A>G
n.2071-2A>G
 dbSNP
1g.1044107A>TCA337835791AGRNc.2000-2A>T (n.2000-2A>T)
c.1685-2A>T (n.1685-2A>T)
c.1586-2A>T (n.1586-2A>T)
c.1127-2A>T (n.1127-2A>T)
c.266-2A>T (n.266-2A>T)
n.2067-2A>T
n.2071-2A>T
1g.1044108G>ACA337835794AGRNc.2000-1G>A (n.2000-1G>A)
c.1685-1G>A (n.1685-1G>A)
c.1586-1G>A (n.1586-1G>A)
c.1127-1G>A (n.1127-1G>A)
c.266-1G>A (n.266-1G>A)
n.2067-1G>A
n.2071-1G>A
1g.1044108G>CCA337835795AGRNc.2000-1G>C (n.2000-1G>C)
c.1685-1G>C (n.1685-1G>C)
c.1586-1G>C (n.1586-1G>C)
c.1127-1G>C (n.1127-1G>C)
c.266-1G>C (n.266-1G>C)
n.2067-1G>C
n.2071-1G>C
1g.1044108G>TCA337835798AGRNc.2000-1G>T (n.2000-1G>T)
c.1685-1G>T (n.1685-1G>T)
c.1586-1G>T (n.1586-1G>T)
c.1127-1G>T (n.1127-1G>T)
c.266-1G>T (n.266-1G>T)
n.2067-1G>T
n.2071-1G>T
1g.1044109C>ACA337835800AGRNc.2000C>A (p.Ala667Asp)
c.1685C>A (p.Ala562Asp)
c.1586C>A (p.Ala529Asp)
c.1127C>A (p.Ala376Asp)
c.266C>A (p.Ala89Asp)
n.2067C>A
n.2071C>A
1g.1044109C>GCA337835801AGRNc.2000C>G (p.Ala667Gly)
c.1685C>G (p.Ala562Gly)
c.1586C>G (p.Ala529Gly)
c.1127C>G (p.Ala376Gly)
c.266C>G (p.Ala89Gly)
n.2067C>G
n.2071C>G
 gnomAD v4
1g.1044109C>TCA337835803AGRNc.2000C>T (p.Ala667Val)
c.1685C>T (p.Ala562Val)
c.1586C>T (p.Ala529Val)
c.1127C>T (p.Ala376Val)
c.266C>T (p.Ala89Val)
n.2067C>T
n.2071C>T
1g.1044110C>ACA415757112AGRNc.2001C>A (p.Ala667=)
c.1686C>A (p.Ala562=)
c.1587C>A (p.Ala529=)
c.1128C>A (p.Ala376=)
c.267C>A (p.Ala89=)
n.2068C>A
n.2072C>A
1g.1044110C=CA1148774354AGRNc.2001C= (p.Ala667=)
c.1686C= (p.Ala562=)
c.1587C= (p.Ala529=)
c.1128C= (p.Ala376=)
c.267C= (p.Ala89=)
n.2068C=
n.2072C=
1g.1044110C>GCA415757114AGRNc.2001C>G (p.Ala667=)
c.1686C>G (p.Ala562=)
c.1587C>G (p.Ala529=)
c.1128C>G (p.Ala376=)
c.267C>G (p.Ala89=)
n.2068C>G
n.2072C>G
 gnomAD v4
1g.1044110C>TCA508431AGRNc.2001C>T (p.Ala667=)
c.1686C>T (p.Ala562=)
c.1587C>T (p.Ala529=)
c.1128C>T (p.Ala376=)
c.267C>T (p.Ala89=)
n.2068C>T
n.2072C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044111G>ACA508432AGRNc.2002G>A (p.Glu668Lys)
c.1687G>A (p.Glu563Lys)
c.1588G>A (p.Glu530Lys)
c.1129G>A (p.Glu377Lys)
c.268G>A (p.Glu90Lys)
n.2069G>A
n.2073G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044111G>CCA337835805AGRNc.2002G>C (p.Glu668Gln)
c.1687G>C (p.Glu563Gln)
c.1588G>C (p.Glu530Gln)
c.1129G>C (p.Glu377Gln)
c.268G>C (p.Glu90Gln)
n.2069G>C
n.2073G>C
1g.1044111G=CA1143374898AGRNc.2002G= (p.Glu668=)
c.1687G= (p.Glu563=)
c.1588G= (p.Glu530=)
c.1129G= (p.Glu377=)
c.268G= (p.Glu90=)
n.2069G=
n.2073G=
1g.1044111G>TCA337835804AGRNc.2002G>T (p.Glu668Ter)
c.1687G>T (p.Glu563Ter)
c.1588G>T (p.Glu530Ter)
c.1129G>T (p.Glu377Ter)
c.268G>T (p.Glu90Ter)
n.2069G>T
n.2073G>T
 ClinVar dbSNP
1g.1044112A>CCA337835807AGRNc.2003A>C (p.Glu668Ala)
c.1688A>C (p.Glu563Ala)
c.1589A>C (p.Glu530Ala)
c.1130A>C (p.Glu377Ala)
c.269A>C (p.Glu90Ala)
n.2070A>C
n.2074A>C
 gnomAD v4
1g.1044112A>GCA337835808AGRNc.2003A>G (p.Glu668Gly)
c.1688A>G (p.Glu563Gly)
c.1589A>G (p.Glu530Gly)
c.1130A>G (p.Glu377Gly)
c.269A>G (p.Glu90Gly)
n.2070A>G
n.2074A>G
1g.1044112A>TCA337835810AGRNc.2003A>T (p.Glu668Val)
c.1688A>T (p.Glu563Val)
c.1589A>T (p.Glu530Val)
c.1130A>T (p.Glu377Val)
c.269A>T (p.Glu90Val)
n.2070A>T
n.2074A>T
1g.1044113G>ACA415757118AGRNc.2004G>A (p.Glu668=)
c.1689G>A (p.Glu563=)
c.1590G>A (p.Glu530=)
c.1131G>A (p.Glu377=)
c.270G>A (p.Glu90=)
n.2071G>A
n.2075G>A
1g.1044113G>CCA337835811AGRNc.2004G>C (p.Glu668Asp)
c.1689G>C (p.Glu563Asp)
c.1590G>C (p.Glu530Asp)
c.1131G>C (p.Glu377Asp)
c.270G>C (p.Glu90Asp)
n.2071G>C
n.2075G>C
1g.1044113G>TCA337835812AGRNc.2004G>T (p.Glu668Asp)
c.1689G>T (p.Glu563Asp)
c.1590G>T (p.Glu530Asp)
c.1131G>T (p.Glu377Asp)
c.270G>T (p.Glu90Asp)
n.2071G>T
n.2075G>T
1g.1044114T>ACA508433AGRNc.2005T>A (p.Cys669Ser)
c.1690T>A (p.Cys564Ser)
c.1591T>A (p.Cys531Ser)
c.1132T>A (p.Cys378Ser)
c.271T>A (p.Cys91Ser)
n.2072T>A
n.2076T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044114T>CCA337835814AGRNc.2005T>C (p.Cys669Arg)
c.1690T>C (p.Cys564Arg)
c.1591T>C (p.Cys531Arg)
c.1132T>C (p.Cys378Arg)
c.271T>C (p.Cys91Arg)
n.2072T>C
n.2076T>C
1g.1044114T>GCA337835813AGRNc.2005T>G (p.Cys669Gly)
c.1690T>G (p.Cys564Gly)
c.1591T>G (p.Cys531Gly)
c.1132T>G (p.Cys378Gly)
c.271T>G (p.Cys91Gly)
n.2072T>G
n.2076T>G
1g.1044114T=CA1148774367AGRNc.2005T= (p.Cys669=)
c.1690T= (p.Cys564=)
c.1591T= (p.Cys531=)
c.1132T= (p.Cys378=)
c.271T= (p.Cys91=)
n.2072T=
n.2076T=
1g.1044115G>ACA337835816AGRNc.2006G>A (p.Cys669Tyr)
c.1691G>A (p.Cys564Tyr)
c.1592G>A (p.Cys531Tyr)
c.1133G>A (p.Cys378Tyr)
c.272G>A (p.Cys91Tyr)
n.2073G>A
n.2077G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1044115G>CCA337835817AGRNc.2006G>C (p.Cys669Ser)
c.1691G>C (p.Cys564Ser)
c.1592G>C (p.Cys531Ser)
c.1133G>C (p.Cys378Ser)
c.272G>C (p.Cys91Ser)
n.2073G>C
n.2077G>C
1g.1044115G=CA1148774403AGRNc.2006G= (p.Cys669=)
c.1691G= (p.Cys564=)
c.1592G= (p.Cys531=)
c.1133G= (p.Cys378=)
c.272G= (p.Cys91=)
n.2073G=
n.2077G=
1g.1044115G>TCA337835818AGRNc.2006G>T (p.Cys669Phe)
c.1691G>T (p.Cys564Phe)
c.1592G>T (p.Cys531Phe)
c.1133G>T (p.Cys378Phe)
c.272G>T (p.Cys91Phe)
n.2073G>T
n.2077G>T
1g.1044116C>ACA337835820AGRNc.2007C>A (p.Cys669Ter)
c.1692C>A (p.Cys564Ter)
c.1593C>A (p.Cys531Ter)
c.1134C>A (p.Cys378Ter)
c.273C>A (p.Cys91Ter)
n.2074C>A
n.2078C>A
1g.1044116C=CA1145434246AGRNc.2007C= (p.Cys669=)
c.1692C= (p.Cys564=)
c.1593C= (p.Cys531=)
c.1134C= (p.Cys378=)
c.273C= (p.Cys91=)
n.2074C=
n.2078C=
1g.1044116C>GCA337835821AGRNc.2007C>G (p.Cys669Trp)
c.1692C>G (p.Cys564Trp)
c.1593C>G (p.Cys531Trp)
c.1134C>G (p.Cys378Trp)
c.273C>G (p.Cys91Trp)
n.2074C>G
n.2078C>G
1g.1044116C>TCA508434AGRNc.2007C>T (p.Cys669=)
c.1692C>T (p.Cys564=)
c.1593C>T (p.Cys531=)
c.1134C>T (p.Cys378=)
c.273C>T (p.Cys91=)
n.2074C>T
n.2078C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1044117G>ACA508435AGRNc.2008G>A (p.Gly670Ser)
c.1693G>A (p.Gly565Ser)
c.1594G>A (p.Gly532Ser)
c.1135G>A (p.Gly379Ser)
c.274G>A (p.Gly92Ser)
n.2075G>A
n.2079G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044117G>CCA337835833AGRNc.2008G>C (p.Gly670Arg)
c.1693G>C (p.Gly565Arg)
c.1594G>C (p.Gly532Arg)
c.1135G>C (p.Gly379Arg)
c.274G>C (p.Gly92Arg)
n.2075G>C
n.2079G>C
1g.1044117G=CA1148774445AGRNc.2008G= (p.Gly670=)
c.1693G= (p.Gly565=)
c.1594G= (p.Gly532=)
c.1135G= (p.Gly379=)
c.274G= (p.Gly92=)
n.2075G=
n.2079G=
1g.1044117G>TCA337835830AGRNc.2008G>T (p.Gly670Cys)
c.1693G>T (p.Gly565Cys)
c.1594G>T (p.Gly532Cys)
c.1135G>T (p.Gly379Cys)
c.274G>T (p.Gly92Cys)
n.2075G>T
n.2079G>T
 gnomAD v4
1g.1044118G>ACA508436AGRNc.2009G>A (p.Gly670Asp)
c.1694G>A (p.Gly565Asp)
c.1595G>A (p.Gly532Asp)
c.1136G>A (p.Gly379Asp)
c.275G>A (p.Gly92Asp)
n.2076G>A
n.2080G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044118G>CCA337835841AGRNc.2009G>C (p.Gly670Ala)
c.1694G>C (p.Gly565Ala)
c.1595G>C (p.Gly532Ala)
c.1136G>C (p.Gly379Ala)
c.275G>C (p.Gly92Ala)
n.2076G>C
n.2080G>C
1g.1044118G=CA1148415797AGRNc.2009G= (p.Gly670=)
c.1694G= (p.Gly565=)
c.1595G= (p.Gly532=)
c.1136G= (p.Gly379=)
c.275G= (p.Gly92=)
n.2076G=
n.2080G=
1g.1044118G>TCA337835843AGRNc.2009G>T (p.Gly670Val)
c.1694G>T (p.Gly565Val)
c.1595G>T (p.Gly532Val)
c.1136G>T (p.Gly379Val)
c.275G>T (p.Gly92Val)
n.2076G>T
n.2080G>T
1g.1044119T>ACA415757129AGRNc.2010T>A (p.Gly670=)
c.1695T>A (p.Gly565=)
c.1596T>A (p.Gly532=)
c.1137T>A (p.Gly379=)
c.276T>A (p.Gly92=)
n.2077T>A
n.2081T>A
1g.1044119T>CCA415757130AGRNc.2010T>C (p.Gly670=)
c.1695T>C (p.Gly565=)
c.1596T>C (p.Gly532=)
c.1137T>C (p.Gly379=)
c.276T>C (p.Gly92=)
n.2077T>C
n.2081T>C
1g.1044119T>GCA415757131AGRNc.2010T>G (p.Gly670=)
c.1695T>G (p.Gly565=)
c.1596T>G (p.Gly532=)
c.1137T>G (p.Gly379=)
c.276T>G (p.Gly92=)
n.2077T>G
n.2081T>G
1g.1044120T>ACA337835844AGRNc.2011T>A (p.Ser671Thr)
c.1696T>A (p.Ser566Thr)
c.1597T>A (p.Ser533Thr)
c.1138T>A (p.Ser380Thr)
c.277T>A (p.Ser93Thr)
n.2078T>A
n.2082T>A
1g.1044120T>CCA337835845AGRNc.2011T>C (p.Ser671Pro)
c.1696T>C (p.Ser566Pro)
c.1597T>C (p.Ser533Pro)
c.1138T>C (p.Ser380Pro)
c.277T>C (p.Ser93Pro)
n.2078T>C
n.2082T>C
1g.1044120T>GCA508437AGRNc.2011T>G (p.Ser671Ala)
c.1696T>G (p.Ser566Ala)
c.1597T>G (p.Ser533Ala)
c.1138T>G (p.Ser380Ala)
c.277T>G (p.Ser93Ala)
n.2078T>G
n.2082T>G
 dbSNP ExAC gnomAD v4
1g.1044120T=CA1148774504AGRNc.2011T= (p.Ser671=)
c.1696T= (p.Ser566=)
c.1597T= (p.Ser533=)
c.1138T= (p.Ser380=)
c.277T= (p.Ser93=)
n.2078T=
n.2082T=
1g.1044121C>ACA337835847AGRNc.2012C>A (p.Ser671Tyr)
c.1697C>A (p.Ser566Tyr)
c.1598C>A (p.Ser533Tyr)
c.1139C>A (p.Ser380Tyr)
c.278C>A (p.Ser93Tyr)
n.2079C>A
n.2083C>A
1g.1044121C>GCA337835852AGRNc.2012C>G (p.Ser671Cys)
c.1697C>G (p.Ser566Cys)
c.1598C>G (p.Ser533Cys)
c.1139C>G (p.Ser380Cys)
c.278C>G (p.Ser93Cys)
n.2079C>G
n.2083C>G
1g.1044121C>TCA337835857AGRNc.2012C>T (p.Ser671Phe)
c.1697C>T (p.Ser566Phe)
c.1598C>T (p.Ser533Phe)
c.1139C>T (p.Ser380Phe)
c.278C>T (p.Ser93Phe)
n.2079C>T
n.2083C>T
 gnomAD v4
1g.1044122C>ACA415757137AGRNc.2013C>A (p.Ser671=)
c.1698C>A (p.Ser566=)
c.1599C>A (p.Ser533=)
c.1140C>A (p.Ser380=)
c.279C>A (p.Ser93=)
n.2080C>A
n.2084C>A
1g.1044122C=CA1141814759AGRNc.2013C= (p.Ser671=)
c.1698C= (p.Ser566=)
c.1599C= (p.Ser533=)
c.1140C= (p.Ser380=)
c.279C= (p.Ser93=)
n.2080C=
n.2084C=
1g.1044122C>GCA508439AGRNc.2013C>G (p.Ser671=)
c.1698C>G (p.Ser566=)
c.1599C>G (p.Ser533=)
c.1140C>G (p.Ser380=)
c.279C>G (p.Ser93=)
n.2080C>G
n.2084C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044122C>TCA508438AGRNc.2013C>T (p.Ser671=)
c.1698C>T (p.Ser566=)
c.1599C>T (p.Ser533=)
c.1140C>T (p.Ser380=)
c.279C>T (p.Ser93=)
n.2080C>T
n.2084C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044123G>ACA508440AGRNc.2014G>A (p.Gly672Arg)
c.1699G>A (p.Gly567Arg)
c.1600G>A (p.Gly534Arg)
c.1141G>A (p.Gly381Arg)
c.280G>A (p.Gly94Arg)
n.2081G>A
n.2085G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044123G>CCA337835864AGRNc.2014G>C (p.Gly672Arg)
c.1699G>C (p.Gly567Arg)
c.1600G>C (p.Gly534Arg)
c.1141G>C (p.Gly381Arg)
c.280G>C (p.Gly94Arg)
n.2081G>C
n.2085G>C
 gnomAD v4
1g.1044123G=CA1148774526AGRNc.2014G= (p.Gly672=)
c.1699G= (p.Gly567=)
c.1600G= (p.Gly534=)
c.1141G= (p.Gly381=)
c.280G= (p.Gly94=)
n.2081G=
n.2085G=
1g.1044123G>TCA337835861AGRNc.2014G>T (p.Gly672Ter)
c.1699G>T (p.Gly567Ter)
c.1600G>T (p.Gly534Ter)
c.1141G>T (p.Gly381Ter)
c.280G>T (p.Gly94Ter)
n.2081G>T
n.2085G>T
1g.1044124G>ACA337835867AGRNc.2015G>A (p.Gly672Glu)
c.1700G>A (p.Gly567Glu)
c.1601G>A (p.Gly534Glu)
c.1142G>A (p.Gly381Glu)
c.281G>A (p.Gly94Glu)
n.2082G>A
n.2086G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1044124G>CCA508441AGRNc.2015G>C (p.Gly672Ala)
c.1700G>C (p.Gly567Ala)
c.1601G>C (p.Gly534Ala)
c.1142G>C (p.Gly381Ala)
c.281G>C (p.Gly94Ala)
n.2082G>C
n.2086G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044124G=CA1148774542AGRNc.2015G= (p.Gly672=)
c.1700G= (p.Gly567=)
c.1601G= (p.Gly534=)
c.1142G= (p.Gly381=)
c.281G= (p.Gly94=)
n.2082G=
n.2086G=
1g.1044124G>TCA337835876AGRNc.2015G>T (p.Gly672Val)
c.1700G>T (p.Gly567Val)
c.1601G>T (p.Gly534Val)
c.1142G>T (p.Gly381Val)
c.281G>T (p.Gly94Val)
n.2082G>T
n.2086G>T
1g.1044125A>CCA415757143AGRNc.2016A>C (p.Gly672=)
c.1701A>C (p.Gly567=)
c.1602A>C (p.Gly534=)
c.1143A>C (p.Gly381=)
c.282A>C (p.Gly94=)
n.2083A>C
n.2087A>C
1g.1044125A>GCA415757144AGRNc.2016A>G (p.Gly672=)
c.1701A>G (p.Gly567=)
c.1602A>G (p.Gly534=)
c.1143A>G (p.Gly381=)
c.282A>G (p.Gly94=)
n.2083A>G
n.2087A>G
1g.1044125A>TCA415757146AGRNc.2016A>T (p.Gly672=)
c.1701A>T (p.Gly567=)
c.1602A>T (p.Gly534=)
c.1143A>T (p.Gly381=)
c.282A>T (p.Gly94=)
n.2083A>T
n.2087A>T
1g.1044126G>ACA337835877AGRNc.2017G>A (p.Gly673Ser)
c.1702G>A (p.Gly568Ser)
c.1603G>A (p.Gly535Ser)
c.1144G>A (p.Gly382Ser)
c.283G>A (p.Gly95Ser)
n.2084G>A
n.2088G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1044126G>CCA337835879AGRNc.2017G>C (p.Gly673Arg)
c.1702G>C (p.Gly568Arg)
c.1603G>C (p.Gly535Arg)
c.1144G>C (p.Gly382Arg)
c.283G>C (p.Gly95Arg)
n.2084G>C
n.2088G>C
1g.1044126G=CA1148774545AGRNc.2017G= (p.Gly673=)
c.1702G= (p.Gly568=)
c.1603G= (p.Gly535=)
c.1144G= (p.Gly382=)
c.283G= (p.Gly95=)
n.2084G=
n.2088G=
1g.1044126G>TCA337835881AGRNc.2017G>T (p.Gly673Cys)
c.1702G>T (p.Gly568Cys)
c.1603G>T (p.Gly535Cys)
c.1144G>T (p.Gly382Cys)
c.283G>T (p.Gly95Cys)
n.2084G>T
n.2088G>T
1g.1044127G>ACA337835882AGRNc.2018G>A (p.Gly673Asp)
c.1703G>A (p.Gly568Asp)
c.1604G>A (p.Gly535Asp)
c.1145G>A (p.Gly382Asp)
c.284G>A (p.Gly95Asp)
n.2085G>A
n.2089G>A
1g.1044127G>CCA337835884AGRNc.2018G>C (p.Gly673Ala)
c.1703G>C (p.Gly568Ala)
c.1604G>C (p.Gly535Ala)
c.1145G>C (p.Gly382Ala)
c.284G>C (p.Gly95Ala)
n.2085G>C
n.2089G>C
1g.1044127G=CA1148774548AGRNc.2018G= (p.Gly673=)
c.1703G= (p.Gly568=)
c.1604G= (p.Gly535=)
c.1145G= (p.Gly382=)
c.284G= (p.Gly95=)
n.2085G=
n.2089G=
1g.1044127G>TCA337835885AGRNc.2018G>T (p.Gly673Val)
c.1703G>T (p.Gly568Val)
c.1604G>T (p.Gly535Val)
c.1145G>T (p.Gly382Val)
c.284G>T (p.Gly95Val)
n.2085G>T
n.2089G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1044128C>ACA415757152AGRNc.2019C>A (p.Gly673=)
c.1704C>A (p.Gly568=)
c.1605C>A (p.Gly535=)
c.1146C>A (p.Gly382=)
c.285C>A (p.Gly95=)
n.2086C>A
n.2090C>A
1g.1044128C=CA1148774552AGRNc.2019C= (p.Gly673=)
c.1704C= (p.Gly568=)
c.1605C= (p.Gly535=)
c.1146C= (p.Gly382=)
c.285C= (p.Gly95=)
n.2086C=
n.2090C=
1g.1044128C>GCA415757151AGRNc.2019C>G (p.Gly673=)
c.1704C>G (p.Gly568=)
c.1605C>G (p.Gly535=)
c.1146C>G (p.Gly382=)
c.285C>G (p.Gly95=)
n.2086C>G
n.2090C>G
1g.1044128C>TCA508442AGRNc.2019C>T (p.Gly673=)
c.1704C>T (p.Gly568=)
c.1605C>T (p.Gly535=)
c.1146C>T (p.Gly382=)
c.285C>T (p.Gly95=)
n.2086C>T
n.2090C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044129T>ACA337835891AGRNc.2020T>A (p.Ser674Thr)
c.1705T>A (p.Ser569Thr)
c.1606T>A (p.Ser536Thr)
c.1147T>A (p.Ser383Thr)
c.286T>A (p.Ser96Thr)
n.2087T>A
n.2091T>A
1g.1044129T>CCA337835892AGRNc.2020T>C (p.Ser674Pro)
c.1705T>C (p.Ser569Pro)
c.1606T>C (p.Ser536Pro)
c.1147T>C (p.Ser383Pro)
c.286T>C (p.Ser96Pro)
n.2087T>C
n.2091T>C
1g.1044129T>GCA337835894AGRNc.2020T>G (p.Ser674Ala)
c.1705T>G (p.Ser569Ala)
c.1606T>G (p.Ser536Ala)
c.1147T>G (p.Ser383Ala)
c.286T>G (p.Ser96Ala)
n.2087T>G
n.2091T>G
1g.1044130C>ACA337835905AGRNc.2021C>A (p.Ser674Tyr)
c.1706C>A (p.Ser569Tyr)
c.1607C>A (p.Ser536Tyr)
c.1148C>A (p.Ser383Tyr)
c.287C>A (p.Ser96Tyr)
n.2088C>A
n.2092C>A
1g.1044130C>GCA337835898AGRNc.2021C>G (p.Ser674Cys)
c.1706C>G (p.Ser569Cys)
c.1607C>G (p.Ser536Cys)
c.1148C>G (p.Ser383Cys)
c.287C>G (p.Ser96Cys)
n.2088C>G
n.2092C>G
1g.1044130C>TCA337835896AGRNc.2021C>T (p.Ser674Phe)
c.1706C>T (p.Ser569Phe)
c.1607C>T (p.Ser536Phe)
c.1148C>T (p.Ser383Phe)
c.287C>T (p.Ser96Phe)
n.2088C>T
n.2092C>T
1g.1044131T>ACA415757155AGRNc.2022T>A (p.Ser674=)
c.1707T>A (p.Ser569=)
c.1608T>A (p.Ser536=)
c.1149T>A (p.Ser383=)
c.288T>A (p.Ser96=)
n.2089T>A
n.2093T>A
1g.1044131T>CCA415757156AGRNc.2022T>C (p.Ser674=)
c.1707T>C (p.Ser569=)
c.1608T>C (p.Ser536=)
c.1149T>C (p.Ser383=)
c.288T>C (p.Ser96=)
n.2089T>C
n.2093T>C
1g.1044131T>GCA415757158AGRNc.2022T>G (p.Ser674=)
c.1707T>G (p.Ser569=)
c.1608T>G (p.Ser536=)
c.1149T>G (p.Ser383=)
c.288T>G (p.Ser96=)
n.2089T>G
n.2093T>G
1g.1044132G>ACA337835906AGRNc.2023G>A (p.Gly675Ser)
c.1708G>A (p.Gly570Ser)
c.1609G>A (p.Gly537Ser)
c.1150G>A (p.Gly384Ser)
c.289G>A (p.Gly97Ser)
n.2090G>A
n.2094G>A
1g.1044132G>CCA337835907AGRNc.2023G>C (p.Gly675Arg)
c.1708G>C (p.Gly570Arg)
c.1609G>C (p.Gly537Arg)
c.1150G>C (p.Gly384Arg)
c.289G>C (p.Gly97Arg)
n.2090G>C
n.2094G>C
1g.1044132G>TCA337835908AGRNc.2023G>T (p.Gly675Cys)
c.1708G>T (p.Gly570Cys)
c.1609G>T (p.Gly537Cys)
c.1150G>T (p.Gly384Cys)
c.289G>T (p.Gly97Cys)
n.2090G>T
n.2094G>T
1g.1044133G>ACA508443AGRNc.2024G>A (p.Gly675Asp)
c.1709G>A (p.Gly570Asp)
c.1610G>A (p.Gly537Asp)
c.1151G>A (p.Gly384Asp)
c.290G>A (p.Gly97Asp)
n.2091G>A
n.2095G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044133G>CCA337835910AGRNc.2024G>C (p.Gly675Ala)
c.1709G>C (p.Gly570Ala)
c.1610G>C (p.Gly537Ala)
c.1151G>C (p.Gly384Ala)
c.290G>C (p.Gly97Ala)
n.2091G>C
n.2095G>C
1g.1044133G=CA1148774561AGRNc.2024G= (p.Gly675=)
c.1709G= (p.Gly570=)
c.1610G= (p.Gly537=)
c.1151G= (p.Gly384=)
c.290G= (p.Gly97=)
n.2091G=
n.2095G=
1g.1044133G>TCA337835911AGRNc.2024G>T (p.Gly675Val)
c.1709G>T (p.Gly570Val)
c.1610G>T (p.Gly537Val)
c.1151G>T (p.Gly384Val)
c.290G>T (p.Gly97Val)
n.2091G>T
n.2095G>T
 gnomAD v4
1g.1044134C>ACA415757160AGRNc.2025C>A (p.Gly675=)
c.1710C>A (p.Gly570=)
c.1611C>A (p.Gly537=)
c.1152C>A (p.Gly384=)
c.291C>A (p.Gly97=)
n.2092C>A
n.2096C>A
1g.1044134C=CA1140481393AGRNc.2025C= (p.Gly675=)
c.1710C= (p.Gly570=)
c.1611C= (p.Gly537=)
c.1152C= (p.Gly384=)
c.291C= (p.Gly97=)
n.2092C=
n.2096C=
1g.1044134C>GCA151614AGRNc.2025C>G (p.Gly675=)
c.1710C>G (p.Gly570=)
c.1611C>G (p.Gly537=)
c.1152C>G (p.Gly384=)
c.291C>G (p.Gly97=)
n.2092C>G
n.2096C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044134C>TCA415757161AGRNc.2025C>T (p.Gly675=)
c.1710C>T (p.Gly570=)
c.1611C>T (p.Gly537=)
c.1152C>T (p.Gly384=)
c.291C>T (p.Gly97=)
n.2092C>T
n.2096C>T
 gnomAD v4 COSMIC
1g.1044135T>ACA337835912AGRNc.2026T>A (p.Ser676Thr)
c.1711T>A (p.Ser571Thr)
c.1612T>A (p.Ser538Thr)
c.1153T>A (p.Ser385Thr)
c.292T>A (p.Ser98Thr)
n.2093T>A
n.2097T>A
1g.1044135T>CCA337835914AGRNc.2026T>C (p.Ser676Pro)
c.1711T>C (p.Ser571Pro)
c.1612T>C (p.Ser538Pro)
c.1153T>C (p.Ser385Pro)
c.292T>C (p.Ser98Pro)
n.2093T>C
n.2097T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1044135T>GCA337835915AGRNc.2026T>G (p.Ser676Ala)
c.1711T>G (p.Ser571Ala)
c.1612T>G (p.Ser538Ala)
c.1153T>G (p.Ser385Ala)
c.292T>G (p.Ser98Ala)
n.2093T>G
n.2097T>G
1g.1044135T=CA1148774582AGRNc.2026T= (p.Ser676=)
c.1711T= (p.Ser571=)
c.1612T= (p.Ser538=)
c.1153T= (p.Ser385=)
c.292T= (p.Ser98=)
n.2093T=
n.2097T=
1g.1044136C>ACA337835916AGRNc.2027C>A (p.Ser676Tyr)
c.1712C>A (p.Ser571Tyr)
c.1613C>A (p.Ser538Tyr)
c.1154C>A (p.Ser385Tyr)
c.293C>A (p.Ser98Tyr)
n.2094C>A
n.2098C>A
 gnomAD v4
1g.1044136C=CA1148774584AGRNc.2027C= (p.Ser676=)
c.1712C= (p.Ser571=)
c.1613C= (p.Ser538=)
c.1154C= (p.Ser385=)
c.293C= (p.Ser98=)
n.2094C=
n.2098C=
1g.1044136C>GCA508444AGRNc.2027C>G (p.Ser676Cys)
c.1712C>G (p.Ser571Cys)
c.1613C>G (p.Ser538Cys)
c.1154C>G (p.Ser385Cys)
c.293C>G (p.Ser98Cys)
n.2094C>G
n.2098C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044136C>TCA337835918AGRNc.2027C>T (p.Ser676Phe)
c.1712C>T (p.Ser571Phe)
c.1613C>T (p.Ser538Phe)
c.1154C>T (p.Ser385Phe)
c.293C>T (p.Ser98Phe)
n.2094C>T
n.2098C>T
1g.1044137T>ACA508445AGRNc.2028T>A (p.Ser676=)
c.1713T>A (p.Ser571=)
c.1614T>A (p.Ser538=)
c.1155T>A (p.Ser385=)
c.294T>A (p.Ser98=)
n.2095T>A
n.2099T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044137T>CCA415757169AGRNc.2028T>C (p.Ser676=)
c.1713T>C (p.Ser571=)
c.1614T>C (p.Ser538=)
c.1155T>C (p.Ser385=)
c.294T>C (p.Ser98=)
n.2095T>C
n.2099T>C
1g.1044137T>GCA415757167AGRNc.2028T>G (p.Ser676=)
c.1713T>G (p.Ser571=)
c.1614T>G (p.Ser538=)
c.1155T>G (p.Ser385=)
c.294T>G (p.Ser98=)
n.2095T>G
n.2099T>G
1g.1044137T=CA1142008312AGRNc.2028T= (p.Ser676=)
c.1713T= (p.Ser571=)
c.1614T= (p.Ser538=)
c.1155T= (p.Ser385=)
c.294T= (p.Ser98=)
n.2095T=
n.2099T=
1g.1044138G>ACA337835925AGRNc.2029G>A (p.Gly677Arg)
c.1714G>A (p.Gly572Arg)
c.1615G>A (p.Gly539Arg)
c.1156G>A (p.Gly386Arg)
c.295G>A (p.Gly99Arg)
n.2096G>A
n.2100G>A
1g.1044138G>CCA337835926AGRNc.2029G>C (p.Gly677Arg)
c.1714G>C (p.Gly572Arg)
c.1615G>C (p.Gly539Arg)
c.1156G>C (p.Gly386Arg)
c.295G>C (p.Gly99Arg)
n.2096G>C
n.2100G>C
1g.1044138G>TCA337835923AGRNc.2029G>T (p.Gly677Trp)
c.1714G>T (p.Gly572Trp)
c.1615G>T (p.Gly539Trp)
c.1156G>T (p.Gly386Trp)
c.295G>T (p.Gly99Trp)
n.2096G>T
n.2100G>T
1g.1044139G>ACA337835928AGRNc.2030G>A (p.Gly677Glu)
c.1715G>A (p.Gly572Glu)
c.1616G>A (p.Gly539Glu)
c.1157G>A (p.Gly386Glu)
c.296G>A (p.Gly99Glu)
n.2097G>A
n.2101G>A
1g.1044139G>CCA337835929AGRNc.2030G>C (p.Gly677Ala)
c.1715G>C (p.Gly572Ala)
c.1616G>C (p.Gly539Ala)
c.1157G>C (p.Gly386Ala)
c.296G>C (p.Gly99Ala)
n.2097G>C
n.2101G>C
1g.1044139G>TCA337835930AGRNc.2030G>T (p.Gly677Val)
c.1715G>T (p.Gly572Val)
c.1616G>T (p.Gly539Val)
c.1157G>T (p.Gly386Val)
c.296G>T (p.Gly99Val)
n.2097G>T
n.2101G>T
1g.1044140G>ACA415757170AGRNc.2031G>A (p.Gly677=)
c.1716G>A (p.Gly572=)
c.1617G>A (p.Gly539=)
c.1158G>A (p.Gly386=)
c.297G>A (p.Gly99=)
n.2098G>A
n.2102G>A
 gnomAD v4
1g.1044140G>CCA415757171AGRNc.2031G>C (p.Gly677=)
c.1716G>C (p.Gly572=)
c.1617G>C (p.Gly539=)
c.1158G>C (p.Gly386=)
c.297G>C (p.Gly99=)
n.2098G>C
n.2102G>C
1g.1044140G>TCA415757172AGRNc.2031G>T (p.Gly677=)
c.1716G>T (p.Gly572=)
c.1617G>T (p.Gly539=)
c.1158G>T (p.Gly386=)
c.297G>T (p.Gly99=)
n.2098G>T
n.2102G>T
1g.1044141G>ACA508446AGRNc.2032G>A (p.Glu678Lys)
c.1717G>A (p.Glu573Lys)
c.1618G>A (p.Glu540Lys)
c.1159G>A (p.Glu387Lys)
c.298G>A (p.Glu100Lys)
n.2099G>A
n.2103G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044141G>CCA337835931AGRNc.2032G>C (p.Glu678Gln)
c.1717G>C (p.Glu573Gln)
c.1618G>C (p.Glu540Gln)
c.1159G>C (p.Glu387Gln)
c.298G>C (p.Glu100Gln)
n.2099G>C
n.2103G>C
1g.1044141G=CA1148774591AGRNc.2032G= (p.Glu678=)
c.1717G= (p.Glu573=)
c.1618G= (p.Glu540=)
c.1159G= (p.Glu387=)
c.298G= (p.Glu100=)
n.2099G=
n.2103G=
1g.1044141G>TCA337835939AGRNc.2032G>T (p.Glu678Ter)
c.1717G>T (p.Glu573Ter)
c.1618G>T (p.Glu540Ter)
c.1159G>T (p.Glu387Ter)
c.298G>T (p.Glu100Ter)
n.2099G>T
n.2103G>T
1g.1044142A>CCA337835940AGRNc.2033A>C (p.Glu678Ala)
c.1718A>C (p.Glu573Ala)
c.1619A>C (p.Glu540Ala)
c.1160A>C (p.Glu387Ala)
c.299A>C (p.Glu100Ala)
n.2100A>C
n.2104A>C
1g.1044142A>GCA337835941AGRNc.2033A>G (p.Glu678Gly)
c.1718A>G (p.Glu573Gly)
c.1619A>G (p.Glu540Gly)
c.1160A>G (p.Glu387Gly)
c.299A>G (p.Glu100Gly)
n.2100A>G
n.2104A>G
1g.1044142A>TCA337835942AGRNc.2033A>T (p.Glu678Val)
c.1718A>T (p.Glu573Val)
c.1619A>T (p.Glu540Val)
c.1160A>T (p.Glu387Val)
c.299A>T (p.Glu100Val)
n.2100A>T
n.2104A>T
1g.1044143G>ACA415757174AGRNc.2034G>A (p.Glu678=)
c.1719G>A (p.Glu573=)
c.1620G>A (p.Glu540=)
c.1161G>A (p.Glu387=)
c.300G>A (p.Glu100=)
n.2101G>A
n.2105G>A
1g.1044143G>CCA337835943AGRNc.2034G>C (p.Glu678Asp)
c.1719G>C (p.Glu573Asp)
c.1620G>C (p.Glu540Asp)
c.1161G>C (p.Glu387Asp)
c.300G>C (p.Glu100Asp)
n.2101G>C
n.2105G>C
 gnomAD v4
1g.1044143G>TCA337835944AGRNc.2034G>T (p.Glu678Asp)
c.1719G>T (p.Glu573Asp)
c.1620G>T (p.Glu540Asp)
c.1161G>T (p.Glu387Asp)
c.300G>T (p.Glu100Asp)
n.2101G>T
n.2105G>T
1g.1044144G>ACA337835948AGRNc.2035G>A (p.Asp679Asn)
c.1720G>A (p.Asp574Asn)
c.1621G>A (p.Asp541Asn)
c.1162G>A (p.Asp388Asn)
c.301G>A (p.Asp101Asn)
n.2102G>A
n.2106G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1044144G>CCA337835947AGRNc.2035G>C (p.Asp679His)
c.1720G>C (p.Asp574His)
c.1621G>C (p.Asp541His)
c.1162G>C (p.Asp388His)
c.301G>C (p.Asp101His)
n.2102G>C
n.2106G>C
1g.1044144G=CA1148774595AGRNc.2035G= (p.Asp679=)
c.1720G= (p.Asp574=)
c.1621G= (p.Asp541=)
c.1162G= (p.Asp388=)
c.301G= (p.Asp101=)
n.2102G=
n.2106G=
1g.1044144G>TCA508447AGRNc.2035G>T (p.Asp679Tyr)
c.1720G>T (p.Asp574Tyr)
c.1621G>T (p.Asp541Tyr)
c.1162G>T (p.Asp388Tyr)
c.301G>T (p.Asp101Tyr)
n.2102G>T
n.2106G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044145A=CA1148774603AGRNc.2036A= (p.Asp679=)
c.1721A= (p.Asp574=)
c.1622A= (p.Asp541=)
c.1163A= (p.Asp388=)
c.302A= (p.Asp101=)
n.2103A=
n.2107A=
1g.1044145A>CCA337835950AGRNc.2036A>C (p.Asp679Ala)
c.1721A>C (p.Asp574Ala)
c.1622A>C (p.Asp541Ala)
c.1163A>C (p.Asp388Ala)
c.302A>C (p.Asp101Ala)
n.2103A>C
n.2107A>C
1g.1044145A>GCA337835951AGRNc.2036A>G (p.Asp679Gly)
c.1721A>G (p.Asp574Gly)
c.1622A>G (p.Asp541Gly)
c.1163A>G (p.Asp388Gly)
c.302A>G (p.Asp101Gly)
n.2103A>G
n.2107A>G
 dbSNP gnomAD v2 gnomAD v4
1g.1044145A>TCA337835952AGRNc.2036A>T (p.Asp679Val)
c.1721A>T (p.Asp574Val)
c.1622A>T (p.Asp541Val)
c.1163A>T (p.Asp388Val)
c.302A>T (p.Asp101Val)
n.2103A>T
n.2107A>T
1g.1044146C>ACA337835953AGRNc.2037C>A (p.Asp679Glu)
c.1722C>A (p.Asp574Glu)
c.1623C>A (p.Asp541Glu)
c.1164C>A (p.Asp388Glu)
c.303C>A (p.Asp101Glu)
n.2104C>A
n.2108C>A
1g.1044146C=CA1148774610AGRNc.2037C= (p.Asp679=)
c.1722C= (p.Asp574=)
c.1623C= (p.Asp541=)
c.1164C= (p.Asp388=)
c.303C= (p.Asp101=)
n.2104C=
n.2108C=
1g.1044146C>GCA337835954AGRNc.2037C>G (p.Asp679Glu)
c.1722C>G (p.Asp574Glu)
c.1623C>G (p.Asp541Glu)
c.1164C>G (p.Asp388Glu)
c.303C>G (p.Asp101Glu)
n.2104C>G
n.2108C>G
1g.1044146C>TCA508448AGRNc.2037C>T (p.Asp679=)
c.1722C>T (p.Asp574=)
c.1623C>T (p.Asp541=)
c.1164C>T (p.Asp388=)
c.303C>T (p.Asp101=)
n.2104C>T
n.2108C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044147G>ACA508449AGRNc.2038G>A (p.Gly680Ser)
c.1723G>A (p.Gly575Ser)
c.1624G>A (p.Gly542Ser)
c.1165G>A (p.Gly389Ser)
c.304G>A (p.Gly102Ser)
n.2105G>A
n.2109G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044147G>CCA337835955AGRNc.2038G>C (p.Gly680Arg)
c.1723G>C (p.Gly575Arg)
c.1624G>C (p.Gly542Arg)
c.1165G>C (p.Gly389Arg)
c.304G>C (p.Gly102Arg)
n.2105G>C
n.2109G>C
1g.1044147G=CA1141713554AGRNc.2038G= (p.Gly680=)
c.1723G= (p.Gly575=)
c.1624G= (p.Gly542=)
c.1165G= (p.Gly389=)
c.304G= (p.Gly102=)
n.2105G=
n.2109G=
1g.1044147G>TCA337835956AGRNc.2038G>T (p.Gly680Cys)
c.1723G>T (p.Gly575Cys)
c.1624G>T (p.Gly542Cys)
c.1165G>T (p.Gly389Cys)
c.304G>T (p.Gly102Cys)
n.2105G>T
n.2109G>T
 gnomAD v4
1g.1044148G>ACA16754904AGRNc.2039G>A (p.Gly680Asp)
c.1724G>A (p.Gly575Asp)
c.1625G>A (p.Gly542Asp)
c.1166G>A (p.Gly389Asp)
c.305G>A (p.Gly102Asp)
n.2106G>A
n.2110G>A
 dbSNP gnomAD v4
1g.1044148G>CCA337835957AGRNc.2039G>C (p.Gly680Ala)
c.1724G>C (p.Gly575Ala)
c.1625G>C (p.Gly542Ala)
c.1166G>C (p.Gly389Ala)
c.305G>C (p.Gly102Ala)
n.2106G>C
n.2110G>C
1g.1044148G=CA1148774619AGRNc.2039G= (p.Gly680=)
c.1724G= (p.Gly575=)
c.1625G= (p.Gly542=)
c.1166G= (p.Gly389=)
c.305G= (p.Gly102=)
n.2106G=
n.2110G=
1g.1044148G>TCA337835958AGRNc.2039G>T (p.Gly680Val)
c.1724G>T (p.Gly575Val)
c.1625G>T (p.Gly542Val)
c.1166G>T (p.Gly389Val)
c.305G>T (p.Gly102Val)
n.2106G>T
n.2110G>T
 dbSNP gnomAD v3 gnomAD v4
1g.1044149T>ACA415757185AGRNc.2040T>A (p.Gly680=)
c.1725T>A (p.Gly575=)
c.1626T>A (p.Gly542=)
c.1167T>A (p.Gly389=)
c.306T>A (p.Gly102=)
n.2107T>A
n.2111T>A
1g.1044149T>CCA415757186AGRNc.2040T>C (p.Gly680=)
c.1725T>C (p.Gly575=)
c.1626T>C (p.Gly542=)
c.1167T>C (p.Gly389=)
c.306T>C (p.Gly102=)
n.2107T>C
n.2111T>C
1g.1044149T>GCA415757187AGRNc.2040T>G (p.Gly680=)
c.1725T>G (p.Gly575=)
c.1626T>G (p.Gly542=)
c.1167T>G (p.Gly389=)
c.306T>G (p.Gly102=)
n.2107T>G
n.2111T>G
1g.1044150G>ACA337835964AGRNc.2041G>A (p.Asp681Asn)
c.1726G>A (p.Asp576Asn)
c.1627G>A (p.Asp543Asn)
c.1168G>A (p.Asp390Asn)
c.307G>A (p.Asp103Asn)
n.2108G>A
n.2112G>A
1g.1044150G>CCA337835960AGRNc.2041G>C (p.Asp681His)
c.1726G>C (p.Asp576His)
c.1627G>C (p.Asp543His)
c.1168G>C (p.Asp390His)
c.307G>C (p.Asp103His)
n.2108G>C
n.2112G>C
1g.1044150G>TCA337835959AGRNc.2041G>T (p.Asp681Tyr)
c.1726G>T (p.Asp576Tyr)
c.1627G>T (p.Asp543Tyr)
c.1168G>T (p.Asp390Tyr)
c.307G>T (p.Asp103Tyr)
n.2108G>T
n.2112G>T
1g.1044151A=CA1148774633AGRNc.2042A= (p.Asp681=)
c.1727A= (p.Asp576=)
c.1628A= (p.Asp543=)
c.1169A= (p.Asp390=)
c.308A= (p.Asp103=)
n.2109A=
n.2113A=
1g.1044151A>CCA337835966AGRNc.2042A>C (p.Asp681Ala)
c.1727A>C (p.Asp576Ala)
c.1628A>C (p.Asp543Ala)
c.1169A>C (p.Asp390Ala)
c.308A>C (p.Asp103Ala)
n.2109A>C
n.2113A>C
1g.1044151A>GCA337835972AGRNc.2042A>G (p.Asp681Gly)
c.1727A>G (p.Asp576Gly)
c.1628A>G (p.Asp543Gly)
c.1169A>G (p.Asp390Gly)
c.308A>G (p.Asp103Gly)
n.2109A>G
n.2113A>G
 ClinVar dbSNP
1g.1044151A>TCA337835971AGRNc.2042A>T (p.Asp681Val)
c.1727A>T (p.Asp576Val)
c.1628A>T (p.Asp543Val)
c.1169A>T (p.Asp390Val)
c.308A>T (p.Asp103Val)
n.2109A>T
n.2113A>T
1g.1044152C>ACA337835973AGRNc.2043C>A (p.Asp681Glu)
c.1728C>A (p.Asp576Glu)
c.1629C>A (p.Asp543Glu)
c.1170C>A (p.Asp390Glu)
c.309C>A (p.Asp103Glu)
n.2110C>A
n.2114C>A
1g.1044152C>GCA337835974AGRNc.2043C>G (p.Asp681Glu)
c.1728C>G (p.Asp576Glu)
c.1629C>G (p.Asp543Glu)
c.1170C>G (p.Asp390Glu)
c.309C>G (p.Asp103Glu)
n.2110C>G
n.2114C>G
1g.1044152C>TCA415757192AGRNc.2043C>T (p.Asp681=)
c.1728C>T (p.Asp576=)
c.1629C>T (p.Asp543=)
c.1170C>T (p.Asp390=)
c.309C>T (p.Asp103=)
n.2110C>T
n.2114C>T
1g.1044153T>ACA337835976AGRNc.2044T>A (p.Cys682Ser)
c.1729T>A (p.Cys577Ser)
c.1630T>A (p.Cys544Ser)
c.1171T>A (p.Cys391Ser)
c.310T>A (p.Cys104Ser)
n.2111T>A
n.2115T>A
1g.1044153T>CCA337835977AGRNc.2044T>C (p.Cys682Arg)
c.1729T>C (p.Cys577Arg)
c.1630T>C (p.Cys544Arg)
c.1171T>C (p.Cys391Arg)
c.310T>C (p.Cys104Arg)
n.2111T>C
n.2115T>C
 dbSNP gnomAD v4
1g.1044153T>GCA337835979AGRNc.2044T>G (p.Cys682Gly)
c.1729T>G (p.Cys577Gly)
c.1630T>G (p.Cys544Gly)
c.1171T>G (p.Cys391Gly)
c.310T>G (p.Cys104Gly)
n.2111T>G
n.2115T>G
 dbSNP gnomAD v3 gnomAD v4
1g.1044153T=CA1148774637AGRNc.2044T= (p.Cys682=)
c.1729T= (p.Cys577=)
c.1630T= (p.Cys544=)
c.1171T= (p.Cys391=)
c.310T= (p.Cys104=)
n.2111T=
n.2115T=
1g.1044154G>ACA337835980AGRNc.2045G>A (p.Cys682Tyr)
c.1730G>A (p.Cys577Tyr)
c.1631G>A (p.Cys544Tyr)
c.1172G>A (p.Cys391Tyr)
c.311G>A (p.Cys104Tyr)
n.2112G>A
n.2116G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1044154G>CCA337835981AGRNc.2045G>C (p.Cys682Ser)
c.1730G>C (p.Cys577Ser)
c.1631G>C (p.Cys544Ser)
c.1172G>C (p.Cys391Ser)
c.311G>C (p.Cys104Ser)
n.2112G>C
n.2116G>C
1g.1044154G=CA1148774641AGRNc.2045G= (p.Cys682=)
c.1730G= (p.Cys577=)
c.1631G= (p.Cys544=)
c.1172G= (p.Cys391=)
c.311G= (p.Cys104=)
n.2112G=
n.2116G=
1g.1044154G>TCA337835982AGRNc.2045G>T (p.Cys682Phe)
c.1730G>T (p.Cys577Phe)
c.1631G>T (p.Cys544Phe)
c.1172G>T (p.Cys391Phe)
c.311G>T (p.Cys104Phe)
n.2112G>T
n.2116G>T
1g.1044155T>ACA337835983AGRNc.2046T>A (p.Cys682Ter)
c.1731T>A (p.Cys577Ter)
c.1632T>A (p.Cys544Ter)
c.1173T>A (p.Cys391Ter)
c.312T>A (p.Cys104Ter)
n.2113T>A
n.2117T>A
1g.1044155T>CCA415757193AGRNc.2046T>C (p.Cys682=)
c.1731T>C (p.Cys577=)
c.1632T>C (p.Cys544=)
c.1173T>C (p.Cys391=)
c.312T>C (p.Cys104=)
n.2113T>C
n.2117T>C
1g.1044155T>GCA337835984AGRNc.2046T>G (p.Cys682Trp)
c.1731T>G (p.Cys577Trp)
c.1632T>G (p.Cys544Trp)
c.1173T>G (p.Cys391Trp)
c.312T>G (p.Cys104Trp)
n.2113T>G
n.2117T>G
1g.1044156G>ACA337835985AGRNc.2047G>A (p.Glu683Lys)
c.1732G>A (p.Glu578Lys)
c.1633G>A (p.Glu545Lys)
c.1174G>A (p.Glu392Lys)
c.313G>A (p.Glu105Lys)
n.2114G>A
n.2118G>A
 gnomAD v4
1g.1044156G>CCA337835986AGRNc.2047G>C (p.Glu683Gln)
c.1732G>C (p.Glu578Gln)
c.1633G>C (p.Glu545Gln)
c.1174G>C (p.Glu392Gln)
c.313G>C (p.Glu105Gln)
n.2114G>C
n.2118G>C
1g.1044156G>TCA337835987AGRNc.2047G>T (p.Glu683Ter)
c.1732G>T (p.Glu578Ter)
c.1633G>T (p.Glu545Ter)
c.1174G>T (p.Glu392Ter)
c.313G>T (p.Glu105Ter)
n.2114G>T
n.2118G>T
1g.1044157A=CA1148774655AGRNc.2048A= (p.Glu683=)
c.1733A= (p.Glu578=)
c.1634A= (p.Glu545=)
c.1175A= (p.Glu392=)
c.314A= (p.Glu105=)
n.2115A=
n.2119A=
1g.1044157A>CCA337835990AGRNc.2048A>C (p.Glu683Ala)
c.1733A>C (p.Glu578Ala)
c.1634A>C (p.Glu545Ala)
c.1175A>C (p.Glu392Ala)
c.314A>C (p.Glu105Ala)
n.2115A>C
n.2119A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1044157A>GCA508450AGRNc.2048A>G (p.Glu683Gly)
c.1733A>G (p.Glu578Gly)
c.1634A>G (p.Glu545Gly)
c.1175A>G (p.Glu392Gly)
c.314A>G (p.Glu105Gly)
n.2115A>G
n.2119A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044157A>TCA337835992AGRNc.2048A>T (p.Glu683Val)
c.1733A>T (p.Glu578Val)
c.1634A>T (p.Glu545Val)
c.1175A>T (p.Glu392Val)
c.314A>T (p.Glu105Val)
n.2115A>T
n.2119A>T
1g.1044158G>ACA415757197AGRNc.2049G>A (p.Glu683=)
c.1734G>A (p.Glu578=)
c.1635G>A (p.Glu545=)
c.1176G>A (p.Glu392=)
c.315G>A (p.Glu105=)
n.2116G>A
n.2120G>A
1g.1044158G>CCA337835996AGRNc.2049G>C (p.Glu683Asp)
c.1734G>C (p.Glu578Asp)
c.1635G>C (p.Glu545Asp)
c.1176G>C (p.Glu392Asp)
c.315G>C (p.Glu105Asp)
n.2116G>C
n.2120G>C
 COSMIC
1g.1044158G>TCA337835998AGRNc.2049G>T (p.Glu683Asp)
c.1734G>T (p.Glu578Asp)
c.1635G>T (p.Glu545Asp)
c.1176G>T (p.Glu392Asp)
c.315G>T (p.Glu105Asp)
n.2116G>T
n.2120G>T
1g.1044159C>ACA337835999AGRNc.2050C>A (p.Gln684Lys)
c.1735C>A (p.Gln579Lys)
c.1636C>A (p.Gln546Lys)
c.1177C>A (p.Gln393Lys)
c.316C>A (p.Gln106Lys)
n.2117C>A
n.2121C>A
1g.1044159C>GCA337836000AGRNc.2050C>G (p.Gln684Glu)
c.1735C>G (p.Gln579Glu)
c.1636C>G (p.Gln546Glu)
c.1177C>G (p.Gln393Glu)
c.316C>G (p.Gln106Glu)
n.2117C>G
n.2121C>G
1g.1044159C>TCA337836001AGRNc.2050C>T (p.Gln684Ter)
c.1735C>T (p.Gln579Ter)
c.1636C>T (p.Gln546Ter)
c.1177C>T (p.Gln393Ter)
c.316C>T (p.Gln106Ter)
n.2117C>T
n.2121C>T
1g.1044160A>CCA337836002AGRNc.2051A>C (p.Gln684Pro)
c.1736A>C (p.Gln579Pro)
c.1637A>C (p.Gln546Pro)
c.1178A>C (p.Gln393Pro)
c.317A>C (p.Gln106Pro)
n.2118A>C
n.2122A>C
1g.1044160A>GCA337836003AGRNc.2051A>G (p.Gln684Arg)
c.1736A>G (p.Gln579Arg)
c.1637A>G (p.Gln546Arg)
c.1178A>G (p.Gln393Arg)
c.317A>G (p.Gln106Arg)
n.2118A>G
n.2122A>G
1g.1044160A>TCA337836004AGRNc.2051A>T (p.Gln684Leu)
c.1736A>T (p.Gln579Leu)
c.1637A>T (p.Gln546Leu)
c.1178A>T (p.Gln393Leu)
c.317A>T (p.Gln106Leu)
n.2118A>T
n.2122A>T
1g.1044161G>ACA415757202AGRNc.2052G>A (p.Gln684=)
c.1737G>A (p.Gln579=)
c.1638G>A (p.Gln546=)
c.1179G>A (p.Gln393=)
c.318G>A (p.Gln106=)
n.2119G>A
n.2123G>A
1g.1044161G>CCA337836005AGRNc.2052G>C (p.Gln684His)
c.1737G>C (p.Gln579His)
c.1638G>C (p.Gln546His)
c.1179G>C (p.Gln393His)
c.318G>C (p.Gln106His)
n.2119G>C
n.2123G>C
1g.1044161G>TCA337836006AGRNc.2052G>T (p.Gln684His)
c.1737G>T (p.Gln579His)
c.1638G>T (p.Gln546His)
c.1179G>T (p.Gln393His)
c.318G>T (p.Gln106His)
n.2119G>T
n.2123G>T
1g.1044162G>ACA337836008AGRNc.2053G>A (p.Glu685Lys)
c.1738G>A (p.Glu580Lys)
c.1639G>A (p.Glu547Lys)
c.1180G>A (p.Glu394Lys)
c.319G>A (p.Glu107Lys)
n.2120G>A
n.2124G>A
1g.1044162G>CCA16754908AGRNc.2053G>C (p.Glu685Gln)
c.1738G>C (p.Glu580Gln)
c.1639G>C (p.Glu547Gln)
c.1180G>C (p.Glu394Gln)
c.319G>C (p.Glu107Gln)
n.2120G>C
n.2124G>C
 dbSNP
1g.1044162G=CA1148774683AGRNc.2053G= (p.Glu685=)
c.1738G= (p.Glu580=)
c.1639G= (p.Glu547=)
c.1180G= (p.Glu394=)
c.319G= (p.Glu107=)
n.2120G=
n.2124G=
1g.1044162G>TCA337836007AGRNc.2053G>T (p.Glu685Ter)
c.1738G>T (p.Glu580Ter)
c.1639G>T (p.Glu547Ter)
c.1180G>T (p.Glu394Ter)
c.319G>T (p.Glu107Ter)
n.2120G>T
n.2124G>T
1g.1044163A=CA1148774689AGRNc.2054A= (p.Glu685=)
c.1739A= (p.Glu580=)
c.1640A= (p.Glu547=)
c.1181A= (p.Glu394=)
c.320A= (p.Glu107=)
n.2121A=
n.2125A=
1g.1044163A>CCA337836012AGRNc.2054A>C (p.Glu685Ala)
c.1739A>C (p.Glu580Ala)
c.1640A>C (p.Glu547Ala)
c.1181A>C (p.Glu394Ala)
c.320A>C (p.Glu107Ala)
n.2121A>C
n.2125A>C
1g.1044163A>GCA337836009AGRNc.2054A>G (p.Glu685Gly)
c.1739A>G (p.Glu580Gly)
c.1640A>G (p.Glu547Gly)
c.1181A>G (p.Glu394Gly)
c.320A>G (p.Glu107Gly)
n.2121A>G
n.2125A>G
 dbSNP
1g.1044163A>TCA337836011AGRNc.2054A>T (p.Glu685Val)
c.1739A>T (p.Glu580Val)
c.1640A>T (p.Glu547Val)
c.1181A>T (p.Glu394Val)
c.320A>T (p.Glu107Val)
n.2121A>T
n.2125A>T
1g.1044164G>ACA415757207AGRNc.2055G>A (p.Glu685=)
c.1740G>A (p.Glu580=)
c.1641G>A (p.Glu547=)
c.1182G>A (p.Glu394=)
c.321G>A (p.Glu107=)
n.2122G>A
n.2126G>A
 gnomAD v4
1g.1044164G>CCA16754910AGRNc.2055G>C (p.Glu685Asp)
c.1740G>C (p.Glu580Asp)
c.1641G>C (p.Glu547Asp)
c.1182G>C (p.Glu394Asp)
c.321G>C (p.Glu107Asp)
n.2122G>C
n.2126G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044164G=CA1148775019AGRNc.2055G= (p.Glu685=)
c.1740G= (p.Glu580=)
c.1641G= (p.Glu547=)
c.1182G= (p.Glu394=)
c.321G= (p.Glu107=)
n.2122G=
n.2126G=
1g.1044164G>TCA337836014AGRNc.2055G>T (p.Glu685Asp)
c.1740G>T (p.Glu580Asp)
c.1641G>T (p.Glu547Asp)
c.1182G>T (p.Glu394Asp)
c.321G>T (p.Glu107Asp)
n.2122G>T
n.2126G>T
1g.1044165C>ACA508451AGRNc.2056C>A (p.Leu686Met)
c.1741C>A (p.Leu581Met)
c.1642C>A (p.Leu548Met)
c.1183C>A (p.Leu395Met)
c.322C>A (p.Leu108Met)
n.2123C>A
n.2127C>A
 dbSNP ExAC gnomAD v4
1g.1044165C=CA1141886214AGRNc.2056C= (p.Leu686=)
c.1741C= (p.Leu581=)
c.1642C= (p.Leu548=)
c.1183C= (p.Leu395=)
c.322C= (p.Leu108=)
n.2123C=
n.2127C=
1g.1044165C>GCA337836015AGRNc.2056C>G (p.Leu686Val)
c.1741C>G (p.Leu581Val)
c.1642C>G (p.Leu548Val)
c.1183C>G (p.Leu395Val)
c.322C>G (p.Leu108Val)
n.2123C>G
n.2127C>G
1g.1044165C>TCA415757208AGRNc.2056C>T (p.Leu686=)
c.1741C>T (p.Leu581=)
c.1642C>T (p.Leu548=)
c.1183C>T (p.Leu395=)
c.322C>T (p.Leu108=)
n.2123C>T
n.2127C>T
1g.1044166T>ACA337836016AGRNc.2057T>A (p.Leu686Gln)
c.1742T>A (p.Leu581Gln)
c.1643T>A (p.Leu548Gln)
c.1184T>A (p.Leu395Gln)
c.323T>A (p.Leu108Gln)
n.2124T>A
n.2128T>A
1g.1044166T>CCA337836020AGRNc.2057T>C (p.Leu686Pro)
c.1742T>C (p.Leu581Pro)
c.1643T>C (p.Leu548Pro)
c.1184T>C (p.Leu395Pro)
c.323T>C (p.Leu108Pro)
n.2124T>C
n.2128T>C
1g.1044166T>GCA337836022AGRNc.2057T>G (p.Leu686Arg)
c.1742T>G (p.Leu581Arg)
c.1643T>G (p.Leu548Arg)
c.1184T>G (p.Leu395Arg)
c.323T>G (p.Leu108Arg)
n.2124T>G
n.2128T>G
1g.1044167G>ACA415757212AGRNc.2058G>A (p.Leu686=)
c.1743G>A (p.Leu581=)
c.1644G>A (p.Leu548=)
c.1185G>A (p.Leu395=)
c.324G>A (p.Leu108=)
n.2125G>A
n.2129G>A
 gnomAD v4
1g.1044167G>CCA415757213AGRNc.2058G>C (p.Leu686=)
c.1743G>C (p.Leu581=)
c.1644G>C (p.Leu548=)
c.1185G>C (p.Leu395=)
c.324G>C (p.Leu108=)
n.2125G>C
n.2129G>C
1g.1044167G=CA1148775049AGRNc.2058G= (p.Leu686=)
c.1743G= (p.Leu581=)
c.1644G= (p.Leu548=)
c.1185G= (p.Leu395=)
c.324G= (p.Leu108=)
n.2125G=
n.2129G=
1g.1044167G>TCA16754925AGRNc.2058G>T (p.Leu686=)
c.1743G>T (p.Leu581=)
c.1644G>T (p.Leu548=)
c.1185G>T (p.Leu395=)
c.324G>T (p.Leu108=)
n.2125G>T
n.2129G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044168T>ACA337836024AGRNc.2059T>A (p.Cys687Ser)
c.1744T>A (p.Cys582Ser)
c.1645T>A (p.Cys549Ser)
c.1186T>A (p.Cys396Ser)
c.325T>A (p.Cys109Ser)
n.2126T>A
n.2130T>A
1g.1044168T>CCA337836025AGRNc.2059T>C (p.Cys687Arg)
c.1744T>C (p.Cys582Arg)
c.1645T>C (p.Cys549Arg)
c.1186T>C (p.Cys396Arg)
c.325T>C (p.Cys109Arg)
n.2126T>C
n.2130T>C
 gnomAD v4
1g.1044168T>GCA337836027AGRNc.2059T>G (p.Cys687Gly)
c.1744T>G (p.Cys582Gly)
c.1645T>G (p.Cys549Gly)
c.1186T>G (p.Cys396Gly)
c.325T>G (p.Cys109Gly)
n.2126T>G
n.2130T>G
 gnomAD v4
1g.1044169G>ACA337836031AGRNc.2060G>A (p.Cys687Tyr)
c.1745G>A (p.Cys582Tyr)
c.1646G>A (p.Cys549Tyr)
c.1187G>A (p.Cys396Tyr)
c.326G>A (p.Cys109Tyr)
n.2127G>A
n.2131G>A
1g.1044169G>CCA337836033AGRNc.2060G>C (p.Cys687Ser)
c.1745G>C (p.Cys582Ser)
c.1646G>C (p.Cys549Ser)
c.1187G>C (p.Cys396Ser)
c.326G>C (p.Cys109Ser)
n.2127G>C
n.2131G>C
 dbSNP
1g.1044169G=CA1148775060AGRNc.2060G= (p.Cys687=)
c.1745G= (p.Cys582=)
c.1646G= (p.Cys549=)
c.1187G= (p.Cys396=)
c.326G= (p.Cys109=)
n.2127G=
n.2131G=
1g.1044169G>TCA337836029AGRNc.2060G>T (p.Cys687Phe)
c.1745G>T (p.Cys582Phe)
c.1646G>T (p.Cys549Phe)
c.1187G>T (p.Cys396Phe)
c.326G>T (p.Cys109Phe)
n.2127G>T
n.2131G>T
1g.1044170C>ACA337836034AGRNc.2061C>A (p.Cys687Ter)
c.1746C>A (p.Cys582Ter)
c.1647C>A (p.Cys549Ter)
c.1188C>A (p.Cys396Ter)
c.327C>A (p.Cys109Ter)
n.2128C>A
n.2132C>A
1g.1044170C>GCA337836035AGRNc.2061C>G (p.Cys687Trp)
c.1746C>G (p.Cys582Trp)
c.1647C>G (p.Cys549Trp)
c.1188C>G (p.Cys396Trp)
c.327C>G (p.Cys109Trp)
n.2128C>G
n.2132C>G
1g.1044170C>TCA415757214AGRNc.2061C>T (p.Cys687=)
c.1746C>T (p.Cys582=)
c.1647C>T (p.Cys549=)
c.1188C>T (p.Cys396=)
c.327C>T (p.Cys109=)
n.2128C>T
n.2132C>T
 gnomAD v4
1g.1044171C>ACA508453AGRNc.2062C>A (p.Arg688=)
c.1747C>A (p.Arg583=)
c.1648C>A (p.Arg550=)
c.1189C>A (p.Arg397=)
c.328C>A (p.Arg110=)
n.2129C>A
n.2133C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044171C=CA1141782999AGRNc.2062C= (p.Arg688=)
c.1747C= (p.Arg583=)
c.1648C= (p.Arg550=)
c.1189C= (p.Arg397=)
c.328C= (p.Arg110=)
n.2129C=
n.2133C=
1g.1044171C>GCA337836036AGRNc.2062C>G (p.Arg688Gly)
c.1747C>G (p.Arg583Gly)
c.1648C>G (p.Arg550Gly)
c.1189C>G (p.Arg397Gly)
c.328C>G (p.Arg110Gly)
n.2129C>G
n.2133C>G
1g.1044171C>TCA508452AGRNc.2062C>T (p.Arg688Trp)
c.1747C>T (p.Arg583Trp)
c.1648C>T (p.Arg550Trp)
c.1189C>T (p.Arg397Trp)
c.328C>T (p.Arg110Trp)
n.2129C>T
n.2133C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044172_1044174dupCA2642490974AGRNc.2063_2065dup (p.Arg688_Gln689insArg)
c.1748_1750dup (p.Arg583_Gln584insArg)
c.1649_1651dup (p.Arg550_Gln551insArg)
c.1190_1192dup (p.Arg397_Gln398insArg)
c.329_331dup (p.Arg110_Gln111insArg)
n.2130_2132dup
n.2134_2136dup
 gnomAD v4
1g.1044172G>ACA508454AGRNc.2063G>A (p.Arg688Gln)
c.1748G>A (p.Arg583Gln)
c.1649G>A (p.Arg550Gln)
c.1190G>A (p.Arg397Gln)
c.329G>A (p.Arg110Gln)
n.2130G>A
n.2134G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1044172G>CCA337836038AGRNc.2063G>C (p.Arg688Pro)
c.1748G>C (p.Arg583Pro)
c.1649G>C (p.Arg550Pro)
c.1190G>C (p.Arg397Pro)
c.329G>C (p.Arg110Pro)
n.2130G>C
n.2134G>C
1g.1044172G=CA1148775072AGRNc.2063G= (p.Arg688=)
c.1748G= (p.Arg583=)
c.1649G= (p.Arg550=)
c.1190G= (p.Arg397=)
c.329G= (p.Arg110=)
n.2130G=
n.2134G=
1g.1044172G>TCA337836039AGRNc.2063G>T (p.Arg688Leu)
c.1748G>T (p.Arg583Leu)
c.1649G>T (p.Arg550Leu)
c.1190G>T (p.Arg397Leu)
c.329G>T (p.Arg110Leu)
n.2130G>T
n.2134G>T
1g.1044173G>ACA415757215AGRNc.2064G>A (p.Arg688=)
c.1749G>A (p.Arg583=)
c.1650G>A (p.Arg550=)
c.1191G>A (p.Arg397=)
c.330G>A (p.Arg110=)
n.2131G>A
n.2135G>A
1g.1044173G>CCA415757216AGRNc.2064G>C (p.Arg688=)
c.1749G>C (p.Arg583=)
c.1650G>C (p.Arg550=)
c.1191G>C (p.Arg397=)
c.330G>C (p.Arg110=)
n.2131G>C
n.2135G>C
 dbSNP
1g.1044173G>TCA415757217AGRNc.2064G>T (p.Arg688=)
c.1749G>T (p.Arg583=)
c.1650G>T (p.Arg550=)
c.1191G>T (p.Arg397=)
c.330G>T (p.Arg110=)
n.2131G>T
n.2135G>T
1g.1044174C>ACA337836041AGRNc.2065C>A (p.Gln689Lys)
c.1750C>A (p.Gln584Lys)
c.1651C>A (p.Gln551Lys)
c.1192C>A (p.Gln398Lys)
c.331C>A (p.Gln111Lys)
n.2132C>A
n.2136C>A
1g.1044174C>GCA337836042AGRNc.2065C>G (p.Gln689Glu)
c.1750C>G (p.Gln584Glu)
c.1651C>G (p.Gln551Glu)
c.1192C>G (p.Gln398Glu)
c.331C>G (p.Gln111Glu)
n.2132C>G
n.2136C>G
1g.1044174C>TCA337836043AGRNc.2065C>T (p.Gln689Ter)
c.1750C>T (p.Gln584Ter)
c.1651C>T (p.Gln551Ter)
c.1192C>T (p.Gln398Ter)
c.331C>T (p.Gln111Ter)
n.2132C>T
n.2136C>T
1g.1044175A>CCA337836044AGRNc.2066A>C (p.Gln689Pro)
c.1751A>C (p.Gln584Pro)
c.1652A>C (p.Gln551Pro)
c.1193A>C (p.Gln398Pro)
c.332A>C (p.Gln111Pro)
n.2133A>C
n.2137A>C
1g.1044175A>GCA337836052AGRNc.2066A>G (p.Gln689Arg)
c.1751A>G (p.Gln584Arg)
c.1652A>G (p.Gln551Arg)
c.1193A>G (p.Gln398Arg)
c.332A>G (p.Gln111Arg)
n.2133A>G
n.2137A>G
1g.1044175A>TCA337836053AGRNc.2066A>T (p.Gln689Leu)
c.1751A>T (p.Gln584Leu)
c.1652A>T (p.Gln551Leu)
c.1193A>T (p.Gln398Leu)
c.332A>T (p.Gln111Leu)
n.2133A>T
n.2137A>T
1g.1044176G>ACA508455AGRNc.2067G>A (p.Gln689=)
c.1752G>A (p.Gln584=)
c.1653G>A (p.Gln551=)
c.1194G>A (p.Gln398=)
c.333G>A (p.Gln111=)
n.2134G>A
n.2138G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044176G>CCA337836055AGRNc.2067G>C (p.Gln689His)
c.1752G>C (p.Gln584His)
c.1653G>C (p.Gln551His)
c.1194G>C (p.Gln398His)
c.333G>C (p.Gln111His)
n.2134G>C
n.2138G>C
1g.1044176G=CA1141707594AGRNc.2067G= (p.Gln689=)
c.1752G= (p.Gln584=)
c.1653G= (p.Gln551=)
c.1194G= (p.Gln398=)
c.333G= (p.Gln111=)
n.2134G=
n.2138G=
1g.1044176G>TCA337836054AGRNc.2067G>T (p.Gln689His)
c.1752G>T (p.Gln584His)
c.1653G>T (p.Gln551His)
c.1194G>T (p.Gln398His)
c.333G>T (p.Gln111His)
n.2134G>T
n.2138G>T
 gnomAD v4
1g.1044177C>ACA337836056AGRNc.2068C>A (p.Arg690Ser)
c.1753C>A (p.Arg585Ser)
c.1654C>A (p.Arg552Ser)
c.1195C>A (p.Arg399Ser)
c.334C>A (p.Arg112Ser)
n.2135C>A
n.2139C>A
 dbSNP gnomAD v4
1g.1044177C=CA1148775081AGRNc.2068C= (p.Arg690=)
c.1753C= (p.Arg585=)
c.1654C= (p.Arg552=)
c.1195C= (p.Arg399=)
c.334C= (p.Arg112=)
n.2135C=
n.2139C=
1g.1044177C>GCA337836058AGRNc.2068C>G (p.Arg690Gly)
c.1753C>G (p.Arg585Gly)
c.1654C>G (p.Arg552Gly)
c.1195C>G (p.Arg399Gly)
c.334C>G (p.Arg112Gly)
n.2135C>G
n.2139C>G
1g.1044177C>TCA337836059AGRNc.2068C>T (p.Arg690Cys)
c.1753C>T (p.Arg585Cys)
c.1654C>T (p.Arg552Cys)
c.1195C>T (p.Arg399Cys)
c.334C>T (p.Arg112Cys)
n.2135C>T
n.2139C>T
 ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched