Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.71398552C=CA2436450079TAF1c.2907-20C= (n.2907-20C=)
c.536-20C=
c.3621-20C= (n.3621-20C=)
c.215-20C=
c.3558-20C= (n.3558-20C=)
c.3681-20C= (n.3681-20C=)
c.3618-20C= (n.3618-20C=)
c.350-20C=
n.3757-20C=
c.3678-20C= (n.3678-20C=)
c.3300-20C= (n.3300-20C=)
n.3691-20C=
n.3639-20C=
Xg.71398552C>TCA331021643TAF1c.2907-20C>T (n.2907-20C>T)
c.536-20C>T
c.3621-20C>T (n.3621-20C>T)
c.215-20C>T
c.3558-20C>T (n.3558-20C>T)
c.3681-20C>T (n.3681-20C>T)
c.3618-20C>T (n.3618-20C>T)
c.350-20C>T
n.3757-20C>T
c.3678-20C>T (n.3678-20C>T)
c.3300-20C>T (n.3300-20C>T)
n.3691-20C>T
n.3639-20C>T
 dbSNP gnomAD v2
Xg.71398553T>CCA2694044629TAF1c.2907-19T>C (n.2907-19T>C)
c.536-19T>C
c.3621-19T>C (n.3621-19T>C)
c.215-19T>C
c.3558-19T>C (n.3558-19T>C)
c.3681-19T>C (n.3681-19T>C)
c.3618-19T>C (n.3618-19T>C)
c.350-19T>C
n.3757-19T>C
c.3678-19T>C (n.3678-19T>C)
c.3300-19T>C (n.3300-19T>C)
n.3691-19T>C
n.3639-19T>C
 gnomAD v4
Xg.71398554G>CCA2821736265TAF1c.2907-18G>C (n.2907-18G>C)
c.536-18G>C
c.3621-18G>C (n.3621-18G>C)
c.215-18G>C
c.3558-18G>C (n.3558-18G>C)
c.3681-18G>C (n.3681-18G>C)
c.3618-18G>C (n.3618-18G>C)
c.350-18G>C
n.3757-18G>C
c.3678-18G>C (n.3678-18G>C)
c.3300-18G>C (n.3300-18G>C)
n.3691-18G>C
n.3639-18G>C
Xg.71398554G=CA2436450080TAF1c.2907-18G= (n.2907-18G=)
c.536-18G=
c.3621-18G= (n.3621-18G=)
c.215-18G=
c.3558-18G= (n.3558-18G=)
c.3681-18G= (n.3681-18G=)
c.3618-18G= (n.3618-18G=)
c.350-18G=
n.3757-18G=
c.3678-18G= (n.3678-18G=)
c.3300-18G= (n.3300-18G=)
n.3691-18G=
n.3639-18G=
Xg.71398554G>TCA331021649TAF1c.2907-18G>T (n.2907-18G>T)
c.536-18G>T
c.3621-18G>T (n.3621-18G>T)
c.215-18G>T
c.3558-18G>T (n.3558-18G>T)
c.3681-18G>T (n.3681-18G>T)
c.3618-18G>T (n.3618-18G>T)
c.350-18G>T
n.3757-18G>T
c.3678-18G>T (n.3678-18G>T)
c.3300-18G>T (n.3300-18G>T)
n.3691-18G>T
n.3639-18G>T
 dbSNP
Xg.71398557G>ACA2596447095TAF1c.2907-15G>A (n.2907-15G>A)
c.536-15G>A
c.3621-15G>A (n.3621-15G>A)
c.215-15G>A
c.3558-15G>A (n.3558-15G>A)
c.3681-15G>A (n.3681-15G>A)
c.3618-15G>A (n.3618-15G>A)
c.350-15G>A
n.3757-15G>A
c.3678-15G>A (n.3678-15G>A)
c.3300-15G>A (n.3300-15G>A)
n.3691-15G>A
n.3639-15G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.71398558C>TCA2694044630TAF1c.2907-14C>T (n.2907-14C>T)
c.536-14C>T
c.3621-14C>T (n.3621-14C>T)
c.215-14C>T
c.3558-14C>T (n.3558-14C>T)
c.3681-14C>T (n.3681-14C>T)
c.3618-14C>T (n.3618-14C>T)
c.350-14C>T
n.3757-14C>T
c.3678-14C>T (n.3678-14C>T)
c.3300-14C>T (n.3300-14C>T)
n.3691-14C>T
n.3639-14C>T
 gnomAD v4
Xg.71398559_71398561delinsTCACA2436450081TAF1c.2907-13_2907-11delinsTCA (n.2907-13_2907-11delinsTCA)
c.536-13_536-11delinsTCA
c.3621-13_3621-11delinsTCA (n.3621-13_3621-11delinsTCA)
c.215-13_215-11delinsTCA
c.3558-13_3558-11delinsTCA (n.3558-13_3558-11delinsTCA)
c.3681-13_3681-11delinsTCA (n.3681-13_3681-11delinsTCA)
c.3618-13_3618-11delinsTCA (n.3618-13_3618-11delinsTCA)
c.350-13_350-11delinsTCA
n.3757-13_3757-11delinsTCA
c.3678-13_3678-11delinsTCA (n.3678-13_3678-11delinsTCA)
c.3300-13_3300-11delinsTCA (n.3300-13_3300-11delinsTCA)
n.3691-13_3691-11delinsTCA
n.3639-13_3639-11delinsTCA
Xg.71398560C>ACA516730447TAF1c.2907-12C>A (n.2907-12C>A)
c.536-12C>A
c.3621-12C>A (n.3621-12C>A)
c.215-12C>A
c.3558-12C>A (n.3558-12C>A)
c.3681-12C>A (n.3681-12C>A)
c.3618-12C>A (n.3618-12C>A)
c.350-12C>A
n.3757-12C>A
c.3678-12C>A (n.3678-12C>A)
c.3300-12C>A (n.3300-12C>A)
n.3691-12C>A
n.3639-12C>A
Xg.71398563_71398564delCA877832345TAF1c.2907-9_2907-8del (n.2907-9_2907-8del)
c.536-9_536-8del
c.3621-9_3621-8del (n.3621-9_3621-8del)
c.215-9_215-8del
c.3558-9_3558-8del (n.3558-9_3558-8del)
c.3681-9_3681-8del (n.3681-9_3681-8del)
c.3618-9_3618-8del (n.3618-9_3618-8del)
c.350-9_350-8del
n.3757-9_3757-8del
c.3678-9_3678-8del (n.3678-9_3678-8del)
c.3300-9_3300-8del (n.3300-9_3300-8del)
n.3691-9_3691-8del
n.3639-9_3639-8del
 dbSNP gnomAD v3 gnomAD v4
Xg.71398562C>ACA641920621TAF1c.2907-10C>A (n.2907-10C>A)
c.536-10C>A
c.3621-10C>A (n.3621-10C>A)
c.215-10C>A
c.3558-10C>A (n.3558-10C>A)
c.3681-10C>A (n.3681-10C>A)
c.3618-10C>A (n.3618-10C>A)
c.350-10C>A
n.3757-10C>A
c.3678-10C>A (n.3678-10C>A)
c.3300-10C>A (n.3300-10C>A)
n.3691-10C>A
n.3639-10C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.71398562C=CA2436450082TAF1c.2907-10C= (n.2907-10C=)
c.536-10C=
c.3621-10C= (n.3621-10C=)
c.215-10C=
c.3558-10C= (n.3558-10C=)
c.3681-10C= (n.3681-10C=)
c.3618-10C= (n.3618-10C=)
c.350-10C=
n.3757-10C=
c.3678-10C= (n.3678-10C=)
c.3300-10C= (n.3300-10C=)
n.3691-10C=
n.3639-10C=
Xg.71398562C>TCA1134107604TAF1c.2907-10C>T (n.2907-10C>T)
c.536-10C>T
c.3621-10C>T (n.3621-10C>T)
c.215-10C>T
c.3558-10C>T (n.3558-10C>T)
c.3681-10C>T (n.3681-10C>T)
c.3618-10C>T (n.3618-10C>T)
c.350-10C>T
n.3757-10C>T
c.3678-10C>T (n.3678-10C>T)
c.3300-10C>T (n.3300-10C>T)
n.3691-10C>T
n.3639-10C>T
 dbSNP
Xg.71398563A=CA2436450083TAF1c.2907-9A= (n.2907-9A=)
c.536-9A=
c.3621-9A= (n.3621-9A=)
c.215-9A=
c.3558-9A= (n.3558-9A=)
c.3681-9A= (n.3681-9A=)
c.3618-9A= (n.3618-9A=)
c.350-9A=
n.3757-9A=
c.3678-9A= (n.3678-9A=)
c.3300-9A= (n.3300-9A=)
n.3691-9A=
n.3639-9A=
Xg.71398563A>GCA10447063TAF1c.2907-9A>G (n.2907-9A>G)
c.536-9A>G
c.3621-9A>G (n.3621-9A>G)
c.215-9A>G
c.3558-9A>G (n.3558-9A>G)
c.3681-9A>G (n.3681-9A>G)
c.3618-9A>G (n.3618-9A>G)
c.350-9A>G
n.3757-9A>G
c.3678-9A>G (n.3678-9A>G)
c.3300-9A>G (n.3300-9A>G)
n.3691-9A>G
n.3639-9A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.71398565T>CCA877832350TAF1c.2907-7T>C (n.2907-7T>C)
c.536-7T>C
c.3621-7T>C (n.3621-7T>C)
c.215-7T>C
c.3558-7T>C (n.3558-7T>C)
c.3681-7T>C (n.3681-7T>C)
c.3618-7T>C (n.3618-7T>C)
c.350-7T>C
n.3757-7T>C
c.3678-7T>C (n.3678-7T>C)
c.3300-7T>C (n.3300-7T>C)
n.3691-7T>C
n.3639-7T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.71398565T=CA2436450084TAF1c.2907-7T= (n.2907-7T=)
c.536-7T=
c.3621-7T= (n.3621-7T=)
c.215-7T=
c.3558-7T= (n.3558-7T=)
c.3681-7T= (n.3681-7T=)
c.3618-7T= (n.3618-7T=)
c.350-7T=
n.3757-7T=
c.3678-7T= (n.3678-7T=)
c.3300-7T= (n.3300-7T=)
n.3691-7T=
n.3639-7T=
Xg.71398566G>CCA10447064TAF1c.2907-6G>C (n.2907-6G>C)
c.536-6G>C
c.3621-6G>C (n.3621-6G>C)
c.215-6G>C
c.3558-6G>C (n.3558-6G>C)
c.3681-6G>C (n.3681-6G>C)
c.3618-6G>C (n.3618-6G>C)
c.350-6G>C
n.3757-6G>C
c.3678-6G>C (n.3678-6G>C)
c.3300-6G>C (n.3300-6G>C)
n.3691-6G>C
n.3639-6G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.71398566G=CA2436450085TAF1c.2907-6G= (n.2907-6G=)
c.536-6G=
c.3621-6G= (n.3621-6G=)
c.215-6G=
c.3558-6G= (n.3558-6G=)
c.3681-6G= (n.3681-6G=)
c.3618-6G= (n.3618-6G=)
c.350-6G=
n.3757-6G=
c.3678-6G= (n.3678-6G=)
c.3300-6G= (n.3300-6G=)
n.3691-6G=
n.3639-6G=
Xg.71398569C>TCA2694044631TAF1c.2907-3C>T (n.2907-3C>T)
c.536-3C>T
c.3621-3C>T (n.3621-3C>T)
c.215-3C>T
c.3558-3C>T (n.3558-3C>T)
c.3681-3C>T (n.3681-3C>T)
c.3618-3C>T (n.3618-3C>T)
c.350-3C>T
n.3757-3C>T
c.3678-3C>T (n.3678-3C>T)
c.3300-3C>T (n.3300-3C>T)
n.3691-3C>T
n.3639-3C>T
 gnomAD v4
Xg.71398570A>CCA413531336TAF1c.2907-2A>C (n.2907-2A>C)
c.536-2A>C
c.3621-2A>C (n.3621-2A>C)
c.215-2A>C
c.3558-2A>C (n.3558-2A>C)
c.3681-2A>C (n.3681-2A>C)
c.3618-2A>C (n.3618-2A>C)
c.350-2A>C
n.3757-2A>C
c.3678-2A>C (n.3678-2A>C)
c.3300-2A>C (n.3300-2A>C)
n.3691-2A>C
n.3639-2A>C
Xg.71398570A>GCA413531334TAF1c.2907-2A>G (n.2907-2A>G)
c.536-2A>G
c.3621-2A>G (n.3621-2A>G)
c.215-2A>G
c.3558-2A>G (n.3558-2A>G)
c.3681-2A>G (n.3681-2A>G)
c.3618-2A>G (n.3618-2A>G)
c.350-2A>G
n.3757-2A>G
c.3678-2A>G (n.3678-2A>G)
c.3300-2A>G (n.3300-2A>G)
n.3691-2A>G
n.3639-2A>G
Xg.71398570A>TCA413531335TAF1c.2907-2A>T (n.2907-2A>T)
c.536-2A>T
c.3621-2A>T (n.3621-2A>T)
c.215-2A>T
c.3558-2A>T (n.3558-2A>T)
c.3681-2A>T (n.3681-2A>T)
c.3618-2A>T (n.3618-2A>T)
c.350-2A>T
n.3757-2A>T
c.3678-2A>T (n.3678-2A>T)
c.3300-2A>T (n.3300-2A>T)
n.3691-2A>T
n.3639-2A>T
Xg.71398571G>ACA413531337TAF1c.2907-1G>A (n.2907-1G>A)
c.536-1G>A
c.3621-1G>A (n.3621-1G>A)
c.215-1G>A
c.3558-1G>A (n.3558-1G>A)
c.3681-1G>A (n.3681-1G>A)
c.3618-1G>A (n.3618-1G>A)
c.350-1G>A
n.3757-1G>A
c.3678-1G>A (n.3678-1G>A)
c.3300-1G>A (n.3300-1G>A)
n.3691-1G>A
n.3639-1G>A
Xg.71398571G>CCA413531338TAF1c.2907-1G>C (n.2907-1G>C)
c.536-1G>C
c.3621-1G>C (n.3621-1G>C)
c.215-1G>C
c.3558-1G>C (n.3558-1G>C)
c.3681-1G>C (n.3681-1G>C)
c.3618-1G>C (n.3618-1G>C)
c.350-1G>C
n.3757-1G>C
c.3678-1G>C (n.3678-1G>C)
c.3300-1G>C (n.3300-1G>C)
n.3691-1G>C
n.3639-1G>C
Xg.71398571G=CA2436450086TAF1c.2907-1G= (n.2907-1G=)
c.536-1G=
c.3621-1G= (n.3621-1G=)
c.215-1G=
c.3558-1G= (n.3558-1G=)
c.3681-1G= (n.3681-1G=)
c.3618-1G= (n.3618-1G=)
c.350-1G=
n.3757-1G=
c.3678-1G= (n.3678-1G=)
c.3300-1G= (n.3300-1G=)
n.3691-1G=
n.3639-1G=
Xg.71398571G>TCA413531340TAF1c.2907-1G>T (n.2907-1G>T)
c.536-1G>T
c.3621-1G>T (n.3621-1G>T)
c.215-1G>T
c.3558-1G>T (n.3558-1G>T)
c.3681-1G>T (n.3681-1G>T)
c.3618-1G>T (n.3618-1G>T)
c.350-1G>T
n.3757-1G>T
c.3678-1G>T (n.3678-1G>T)
c.3300-1G>T (n.3300-1G>T)
n.3691-1G>T
n.3639-1G>T
 dbSNP
Xg.71398572T>ACA516730453TAF1c.2907T>A (p.Ile969=)
c.536T>A
c.3621T>A (p.Ile1207=)
c.215T>A
c.3558T>A (p.Ile1186=)
c.3681T>A (p.Ile1227=)
c.3618T>A (p.Ile1206=)
c.350T>A
n.3757T>A
c.3678T>A (p.Ile1226=)
c.3300T>A (p.Ile1100=)
n.3691T>A
n.3639T>A
Xg.71398572T>CCA516730452TAF1c.2907T>C (p.Ile969=)
c.536T>C
c.3621T>C (p.Ile1207=)
c.215T>C
c.3558T>C (p.Ile1186=)
c.3681T>C (p.Ile1227=)
c.3618T>C (p.Ile1206=)
c.350T>C
n.3757T>C
c.3678T>C (p.Ile1226=)
c.3300T>C (p.Ile1100=)
n.3691T>C
n.3639T>C
Xg.71398572T>GCA413531343TAF1c.2907T>G (p.Ile969Met)
c.536T>G
c.3621T>G (p.Ile1207Met)
c.215T>G
c.3558T>G (p.Ile1186Met)
c.3681T>G (p.Ile1227Met)
c.3618T>G (p.Ile1206Met)
c.350T>G
n.3757T>G
c.3678T>G (p.Ile1226Met)
c.3300T>G (p.Ile1100Met)
n.3691T>G
n.3639T>G
Xg.71398573C>ACA516730455TAF1c.2908C>A (p.Arg970=)
c.537C>A
c.3622C>A (p.Arg1208=)
c.216C>A
c.3559C>A (p.Arg1187=)
c.3682C>A (p.Arg1228=)
c.3619C>A (p.Arg1207=)
c.351C>A
n.3758C>A
c.3679C>A (p.Arg1227=)
c.3301C>A (p.Arg1101=)
n.3692C>A
n.3640C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.71398573C=CA2436450087TAF1c.2908C= (p.Arg970=)
c.537C=
c.3622C= (p.Arg1208=)
c.216C=
c.3559C= (p.Arg1187=)
c.3682C= (p.Arg1228=)
c.3619C= (p.Arg1207=)
c.351C=
n.3758C=
c.3679C= (p.Arg1227=)
c.3301C= (p.Arg1101=)
n.3692C=
n.3640C=
Xg.71398573C>GCA413531344TAF1c.2908C>G (p.Arg970Gly)
c.537C>G
c.3622C>G (p.Arg1208Gly)
c.216C>G
c.3559C>G (p.Arg1187Gly)
c.3682C>G (p.Arg1228Gly)
c.3619C>G (p.Arg1207Gly)
c.351C>G
n.3758C>G
c.3679C>G (p.Arg1227Gly)
c.3301C>G (p.Arg1101Gly)
n.3692C>G
n.3640C>G
Xg.71398573C>TCA413531345TAF1c.2908C>T (p.Arg970Ter)
c.537C>T
c.3622C>T (p.Arg1208Ter)
c.216C>T
c.3559C>T (p.Arg1187Ter)
c.3682C>T (p.Arg1228Ter)
c.3619C>T (p.Arg1207Ter)
c.351C>T
n.3758C>T
c.3679C>T (p.Arg1227Ter)
c.3301C>T (p.Arg1101Ter)
n.3692C>T
n.3640C>T
Xg.71398574G>ACA413531346TAF1c.2909G>A (p.Arg970Gln)
c.538G>A
c.3623G>A (p.Arg1208Gln)
c.217G>A
c.3560G>A (p.Arg1187Gln)
c.3683G>A (p.Arg1228Gln)
c.3620G>A (p.Arg1207Gln)
c.352G>A
n.3759G>A
c.3680G>A (p.Arg1227Gln)
c.3302G>A (p.Arg1101Gln)
n.3693G>A
n.3641G>A
 gnomAD v4
Xg.71398574G>CCA413531347TAF1c.2909G>C (p.Arg970Pro)
c.538G>C
c.3623G>C (p.Arg1208Pro)
c.217G>C
c.3560G>C (p.Arg1187Pro)
c.3683G>C (p.Arg1228Pro)
c.3620G>C (p.Arg1207Pro)
c.352G>C
n.3759G>C
c.3680G>C (p.Arg1227Pro)
c.3302G>C (p.Arg1101Pro)
n.3693G>C
n.3641G>C
Xg.71398574G>TCA413531348TAF1c.2909G>T (p.Arg970Leu)
c.538G>T
c.3623G>T (p.Arg1208Leu)
c.217G>T
c.3560G>T (p.Arg1187Leu)
c.3683G>T (p.Arg1228Leu)
c.3620G>T (p.Arg1207Leu)
c.352G>T
n.3759G>T
c.3680G>T (p.Arg1227Leu)
c.3302G>T (p.Arg1101Leu)
n.3693G>T
n.3641G>T
Xg.71398575A>CCA516730460TAF1c.2910A>C (p.Arg970=)
c.539A>C
c.3624A>C (p.Arg1208=)
c.218A>C
c.3561A>C (p.Arg1187=)
c.3684A>C (p.Arg1228=)
c.3621A>C (p.Arg1207=)
c.353A>C
n.3760A>C
c.3681A>C (p.Arg1227=)
c.3303A>C (p.Arg1101=)
n.3694A>C
n.3642A>C
Xg.71398575A>GCA516730462TAF1c.2910A>G (p.Arg970=)
c.539A>G
c.3624A>G (p.Arg1208=)
c.218A>G
c.3561A>G (p.Arg1187=)
c.3684A>G (p.Arg1228=)
c.3621A>G (p.Arg1207=)
c.353A>G
n.3760A>G
c.3681A>G (p.Arg1227=)
c.3303A>G (p.Arg1101=)
n.3694A>G
n.3642A>G
Xg.71398575A>TCA516730463TAF1c.2910A>T (p.Arg970=)
c.539A>T
c.3624A>T (p.Arg1208=)
c.218A>T
c.3561A>T (p.Arg1187=)
c.3684A>T (p.Arg1228=)
c.3621A>T (p.Arg1207=)
c.353A>T
n.3760A>T
c.3681A>T (p.Arg1227=)
c.3303A>T (p.Arg1101=)
n.3694A>T
n.3642A>T
Xg.71398576A>CCA413531357TAF1c.2911A>C (p.Lys971Gln)
c.540A>C
c.3625A>C (p.Lys1209Gln)
c.219A>C
c.3562A>C (p.Lys1188Gln)
c.3685A>C (p.Lys1229Gln)
c.3622A>C (p.Lys1208Gln)
c.354A>C
n.3761A>C
c.3682A>C (p.Lys1228Gln)
c.3304A>C (p.Lys1102Gln)
n.3695A>C
n.3643A>C
Xg.71398576A>GCA413531351TAF1c.2911A>G (p.Lys971Glu)
c.540A>G
c.3625A>G (p.Lys1209Glu)
c.219A>G
c.3562A>G (p.Lys1188Glu)
c.3685A>G (p.Lys1229Glu)
c.3622A>G (p.Lys1208Glu)
c.354A>G
n.3761A>G
c.3682A>G (p.Lys1228Glu)
c.3304A>G (p.Lys1102Glu)
n.3695A>G
n.3643A>G
Xg.71398576A>TCA413531349TAF1c.2911A>T (p.Lys971Ter)
c.540A>T
c.3625A>T (p.Lys1209Ter)
c.219A>T
c.3562A>T (p.Lys1188Ter)
c.3685A>T (p.Lys1229Ter)
c.3622A>T (p.Lys1208Ter)
c.354A>T
n.3761A>T
c.3682A>T (p.Lys1228Ter)
c.3304A>T (p.Lys1102Ter)
n.3695A>T
n.3643A>T
Xg.71398577A>CCA413531360TAF1c.2912A>C (p.Lys971Thr)
c.541A>C
c.3626A>C (p.Lys1209Thr)
c.220A>C
c.3563A>C (p.Lys1188Thr)
c.3686A>C (p.Lys1229Thr)
c.3623A>C (p.Lys1208Thr)
c.355A>C
n.3762A>C
c.3683A>C (p.Lys1228Thr)
c.3305A>C (p.Lys1102Thr)
n.3696A>C
n.3644A>C
Xg.71398577A>GCA413531361TAF1c.2912A>G (p.Lys971Arg)
c.541A>G
c.3626A>G (p.Lys1209Arg)
c.220A>G
c.3563A>G (p.Lys1188Arg)
c.3686A>G (p.Lys1229Arg)
c.3623A>G (p.Lys1208Arg)
c.355A>G
n.3762A>G
c.3683A>G (p.Lys1228Arg)
c.3305A>G (p.Lys1102Arg)
n.3696A>G
n.3644A>G
Xg.71398577A>TCA413531364TAF1c.2912A>T (p.Lys971Ile)
c.541A>T
c.3626A>T (p.Lys1209Ile)
c.220A>T
c.3563A>T (p.Lys1188Ile)
c.3686A>T (p.Lys1229Ile)
c.3623A>T (p.Lys1208Ile)
c.355A>T
n.3762A>T
c.3683A>T (p.Lys1228Ile)
c.3305A>T (p.Lys1102Ile)
n.3696A>T
n.3644A>T
Xg.71398578A>CCA413531366TAF1c.2913A>C (p.Lys971Asn)
c.542A>C
c.3627A>C (p.Lys1209Asn)
c.221A>C
c.3564A>C (p.Lys1188Asn)
c.3687A>C (p.Lys1229Asn)
c.3624A>C (p.Lys1208Asn)
c.356A>C
n.3763A>C
c.3684A>C (p.Lys1228Asn)
c.3306A>C (p.Lys1102Asn)
n.3697A>C
n.3645A>C
Xg.71398578A>GCA516730467TAF1c.2913A>G (p.Lys971=)
c.542A>G
c.3627A>G (p.Lys1209=)
c.221A>G
c.3564A>G (p.Lys1188=)
c.3687A>G (p.Lys1229=)
c.3624A>G (p.Lys1208=)
c.356A>G
n.3763A>G
c.3684A>G (p.Lys1228=)
c.3306A>G (p.Lys1102=)
n.3697A>G
n.3645A>G
Xg.71398578A>TCA413531367TAF1c.2913A>T (p.Lys971Asn)
c.542A>T
c.3627A>T (p.Lys1209Asn)
c.221A>T
c.3564A>T (p.Lys1188Asn)
c.3687A>T (p.Lys1229Asn)
c.3624A>T (p.Lys1208Asn)
c.356A>T
n.3763A>T
c.3684A>T (p.Lys1228Asn)
c.3306A>T (p.Lys1102Asn)
n.3697A>T
n.3645A>T
Xg.71398579T>ACA413531369TAF1c.2914T>A (p.Phe972Ile)
c.543T>A
c.3628T>A (p.Phe1210Ile)
c.222T>A
c.3565T>A (p.Phe1189Ile)
c.3688T>A (p.Phe1230Ile)
c.3625T>A (p.Phe1209Ile)
c.357T>A
n.3764T>A
c.3685T>A (p.Phe1229Ile)
c.3307T>A (p.Phe1103Ile)
n.3698T>A
n.3646T>A
Xg.71398579T>CCA413531371TAF1c.2914T>C (p.Phe972Leu)
c.543T>C
c.3628T>C (p.Phe1210Leu)
c.222T>C
c.3565T>C (p.Phe1189Leu)
c.3688T>C (p.Phe1230Leu)
c.3625T>C (p.Phe1209Leu)
c.357T>C
n.3764T>C
c.3685T>C (p.Phe1229Leu)
c.3307T>C (p.Phe1103Leu)
n.3698T>C
n.3646T>C
Xg.71398579T>GCA413531373TAF1c.2914T>G (p.Phe972Val)
c.543T>G
c.3628T>G (p.Phe1210Val)
c.222T>G
c.3565T>G (p.Phe1189Val)
c.3688T>G (p.Phe1230Val)
c.3625T>G (p.Phe1209Val)
c.357T>G
n.3764T>G
c.3685T>G (p.Phe1229Val)
c.3307T>G (p.Phe1103Val)
n.3698T>G
n.3646T>G
Xg.71398580T>ACA413531375TAF1c.2915T>A (p.Phe972Tyr)
c.544T>A
c.3629T>A (p.Phe1210Tyr)
c.223T>A
c.3566T>A (p.Phe1189Tyr)
c.3689T>A (p.Phe1230Tyr)
c.3626T>A (p.Phe1209Tyr)
c.358T>A
n.3765T>A
c.3686T>A (p.Phe1229Tyr)
c.3308T>A (p.Phe1103Tyr)
n.3699T>A
n.3647T>A
Xg.71398580T>CCA413531376TAF1c.2915T>C (p.Phe972Ser)
c.544T>C
c.3629T>C (p.Phe1210Ser)
c.223T>C
c.3566T>C (p.Phe1189Ser)
c.3689T>C (p.Phe1230Ser)
c.3626T>C (p.Phe1209Ser)
c.358T>C
n.3765T>C
c.3686T>C (p.Phe1229Ser)
c.3308T>C (p.Phe1103Ser)
n.3699T>C
n.3647T>C
Xg.71398580T>GCA413531378TAF1c.2915T>G (p.Phe972Cys)
c.544T>G
c.3629T>G (p.Phe1210Cys)
c.223T>G
c.3566T>G (p.Phe1189Cys)
c.3689T>G (p.Phe1230Cys)
c.3626T>G (p.Phe1209Cys)
c.358T>G
n.3765T>G
c.3686T>G (p.Phe1229Cys)
c.3308T>G (p.Phe1103Cys)
n.3699T>G
n.3647T>G
Xg.71398581T>ACA413531382TAF1c.2916T>A (p.Phe972Leu)
c.545T>A
c.3630T>A (p.Phe1210Leu)
c.224T>A
c.3567T>A (p.Phe1189Leu)
c.3690T>A (p.Phe1230Leu)
c.3627T>A (p.Phe1209Leu)
c.359T>A
n.3766T>A
c.3687T>A (p.Phe1229Leu)
c.3309T>A (p.Phe1103Leu)
n.3700T>A
n.3648T>A
Xg.71398581T>CCA516730473TAF1c.2916T>C (p.Phe972=)
c.545T>C
c.3630T>C (p.Phe1210=)
c.224T>C
c.3567T>C (p.Phe1189=)
c.3690T>C (p.Phe1230=)
c.3627T>C (p.Phe1209=)
c.359T>C
n.3766T>C
c.3687T>C (p.Phe1229=)
c.3309T>C (p.Phe1103=)
n.3700T>C
n.3648T>C
Xg.71398581T>GCA413531384TAF1c.2916T>G (p.Phe972Leu)
c.545T>G
c.3630T>G (p.Phe1210Leu)
c.224T>G
c.3567T>G (p.Phe1189Leu)
c.3690T>G (p.Phe1230Leu)
c.3627T>G (p.Phe1209Leu)
c.359T>G
n.3766T>G
c.3687T>G (p.Phe1229Leu)
c.3309T>G (p.Phe1103Leu)
n.3700T>G
n.3648T>G
Xg.71398582G>ACA413531387TAF1c.2917G>A (p.Ala973Thr)
c.546G>A
c.3631G>A (p.Ala1211Thr)
c.225G>A
c.3568G>A (p.Ala1190Thr)
c.3691G>A (p.Ala1231Thr)
c.3628G>A (p.Ala1210Thr)
c.360G>A
n.3767G>A
c.3688G>A (p.Ala1230Thr)
c.3310G>A (p.Ala1104Thr)
n.3701G>A
n.3649G>A
Xg.71398582G>CCA413531388TAF1c.2917G>C (p.Ala973Pro)
c.546G>C
c.3631G>C (p.Ala1211Pro)
c.225G>C
c.3568G>C (p.Ala1190Pro)
c.3691G>C (p.Ala1231Pro)
c.3628G>C (p.Ala1210Pro)
c.360G>C
n.3767G>C
c.3688G>C (p.Ala1230Pro)
c.3310G>C (p.Ala1104Pro)
n.3701G>C
n.3649G>C
Xg.71398582G>TCA413531386TAF1c.2917G>T (p.Ala973Ser)
c.546G>T
c.3631G>T (p.Ala1211Ser)
c.225G>T
c.3568G>T (p.Ala1190Ser)
c.3691G>T (p.Ala1231Ser)
c.3628G>T (p.Ala1210Ser)
c.360G>T
n.3767G>T
c.3688G>T (p.Ala1230Ser)
c.3310G>T (p.Ala1104Ser)
n.3701G>T
n.3649G>T
Xg.71398583C>ACA413531394TAF1c.2918C>A (p.Ala973Asp)
c.547C>A
c.3632C>A (p.Ala1211Asp)
c.226C>A
c.3569C>A (p.Ala1190Asp)
c.3692C>A (p.Ala1231Asp)
c.3629C>A (p.Ala1210Asp)
c.361C>A
n.3768C>A
c.3689C>A (p.Ala1230Asp)
c.3311C>A (p.Ala1104Asp)
n.3702C>A
n.3650C>A
Xg.71398583C>GCA413531389TAF1c.2918C>G (p.Ala973Gly)
c.547C>G
c.3632C>G (p.Ala1211Gly)
c.226C>G
c.3569C>G (p.Ala1190Gly)
c.3692C>G (p.Ala1231Gly)
c.3629C>G (p.Ala1210Gly)
c.361C>G
n.3768C>G
c.3689C>G (p.Ala1230Gly)
c.3311C>G (p.Ala1104Gly)
n.3702C>G
n.3650C>G
Xg.71398583C>TCA413531390TAF1c.2918C>T (p.Ala973Val)
c.547C>T
c.3632C>T (p.Ala1211Val)
c.226C>T
c.3569C>T (p.Ala1190Val)
c.3692C>T (p.Ala1231Val)
c.3629C>T (p.Ala1210Val)
c.361C>T
n.3768C>T
c.3689C>T (p.Ala1230Val)
c.3311C>T (p.Ala1104Val)
n.3702C>T
n.3650C>T
 gnomAD v4
Xg.71398584C>ACA516730479TAF1c.2919C>A (p.Ala973=)
c.548C>A
c.3633C>A (p.Ala1211=)
c.227C>A
c.3570C>A (p.Ala1190=)
c.3693C>A (p.Ala1231=)
c.3630C>A (p.Ala1210=)
c.362C>A
n.3769C>A
c.3690C>A (p.Ala1230=)
c.3312C>A (p.Ala1104=)
n.3703C>A
n.3651C>A
Xg.71398584C>GCA516730481TAF1c.2919C>G (p.Ala973=)
c.548C>G
c.3633C>G (p.Ala1211=)
c.227C>G
c.3570C>G (p.Ala1190=)
c.3693C>G (p.Ala1231=)
c.3630C>G (p.Ala1210=)
c.362C>G
n.3769C>G
c.3690C>G (p.Ala1230=)
c.3312C>G (p.Ala1104=)
n.3703C>G
n.3651C>G
Xg.71398584C>TCA516730480TAF1c.2919C>T (p.Ala973=)
c.548C>T
c.3633C>T (p.Ala1211=)
c.227C>T
c.3570C>T (p.Ala1190=)
c.3693C>T (p.Ala1231=)
c.3630C>T (p.Ala1210=)
c.362C>T
n.3769C>T
c.3690C>T (p.Ala1230=)
c.3312C>T (p.Ala1104=)
n.3703C>T
n.3651C>T
Xg.71398585C>ACA413531397TAF1c.2920C>A (p.Leu974Ile)
c.549C>A
c.3634C>A (p.Leu1212Ile)
c.228C>A
c.3571C>A (p.Leu1191Ile)
c.3694C>A (p.Leu1232Ile)
c.3631C>A (p.Leu1211Ile)
c.363C>A
n.3770C>A
c.3691C>A (p.Leu1231Ile)
c.3313C>A (p.Leu1105Ile)
n.3704C>A
n.3652C>A
Xg.71398585C>GCA413531400TAF1c.2920C>G (p.Leu974Val)
c.549C>G
c.3634C>G (p.Leu1212Val)
c.228C>G
c.3571C>G (p.Leu1191Val)
c.3694C>G (p.Leu1232Val)
c.3631C>G (p.Leu1211Val)
c.363C>G
n.3770C>G
c.3691C>G (p.Leu1231Val)
c.3313C>G (p.Leu1105Val)
n.3704C>G
n.3652C>G
Xg.71398585C>TCA413531402TAF1c.2920C>T (p.Leu974Phe)
c.549C>T
c.3634C>T (p.Leu1212Phe)
c.228C>T
c.3571C>T (p.Leu1191Phe)
c.3694C>T (p.Leu1232Phe)
c.3631C>T (p.Leu1211Phe)
c.363C>T
n.3770C>T
c.3691C>T (p.Leu1231Phe)
c.3313C>T (p.Leu1105Phe)
n.3704C>T
n.3652C>T
Xg.71398586T>ACA413531405TAF1c.2921T>A (p.Leu974His)
c.550T>A
c.3635T>A (p.Leu1212His)
c.229T>A
c.3572T>A (p.Leu1191His)
c.3695T>A (p.Leu1232His)
c.3632T>A (p.Leu1211His)
c.364T>A
n.3771T>A
c.3692T>A (p.Leu1231His)
c.3314T>A (p.Leu1105His)
n.3705T>A
n.3653T>A
Xg.71398586T>CCA413531407TAF1c.2921T>C (p.Leu974Pro)
c.550T>C
c.3635T>C (p.Leu1212Pro)
c.229T>C
c.3572T>C (p.Leu1191Pro)
c.3695T>C (p.Leu1232Pro)
c.3632T>C (p.Leu1211Pro)
c.364T>C
n.3771T>C
c.3692T>C (p.Leu1231Pro)
c.3314T>C (p.Leu1105Pro)
n.3705T>C
n.3653T>C
Xg.71398586T>GCA413531422TAF1c.2921T>G (p.Leu974Arg)
c.550T>G
c.3635T>G (p.Leu1212Arg)
c.229T>G
c.3572T>G (p.Leu1191Arg)
c.3695T>G (p.Leu1232Arg)
c.3632T>G (p.Leu1211Arg)
c.364T>G
n.3771T>G
c.3692T>G (p.Leu1231Arg)
c.3314T>G (p.Leu1105Arg)
n.3705T>G
n.3653T>G
Xg.71398590delCA2738736785TAF1c.2925del (p.Phe975LeufsTer20)
c.554del
c.3639del (p.Phe1213LeufsTer20)
c.233del
c.3576del (p.Phe1192LeufsTer20)
c.3699del (p.Phe1233LeufsTer20)
c.3636del (p.Phe1212LeufsTer20)
c.368del
n.3775del
c.3696del (p.Phe1232LeufsTer20)
c.3318del (p.Phe1106LeufsTer20)
n.3709del
n.3657del
 dbSNP
Xg.71398587T>ACA516730486TAF1c.2922T>A (p.Leu974=)
c.551T>A
c.3636T>A (p.Leu1212=)
c.230T>A
c.3573T>A (p.Leu1191=)
c.3696T>A (p.Leu1232=)
c.3633T>A (p.Leu1211=)
c.365T>A
n.3772T>A
c.3693T>A (p.Leu1231=)
c.3315T>A (p.Leu1105=)
n.3706T>A
n.3654T>A
Xg.71398587T>CCA516730487TAF1c.2922T>C (p.Leu974=)
c.551T>C
c.3636T>C (p.Leu1212=)
c.230T>C
c.3573T>C (p.Leu1191=)
c.3696T>C (p.Leu1232=)
c.3633T>C (p.Leu1211=)
c.365T>C
n.3772T>C
c.3693T>C (p.Leu1231=)
c.3315T>C (p.Leu1105=)
n.3706T>C
n.3654T>C
Xg.71398587T>GCA516730488TAF1c.2922T>G (p.Leu974=)
c.551T>G
c.3636T>G (p.Leu1212=)
c.230T>G
c.3573T>G (p.Leu1191=)
c.3696T>G (p.Leu1232=)
c.3633T>G (p.Leu1211=)
c.365T>G
n.3772T>G
c.3693T>G (p.Leu1231=)
c.3315T>G (p.Leu1105=)
n.3706T>G
n.3654T>G
Xg.71398588T>ACA413531427TAF1c.2923T>A (p.Phe975Ile)
c.552T>A
c.3637T>A (p.Phe1213Ile)
c.231T>A
c.3574T>A (p.Phe1192Ile)
c.3697T>A (p.Phe1233Ile)
c.3634T>A (p.Phe1212Ile)
c.366T>A
n.3773T>A
c.3694T>A (p.Phe1232Ile)
c.3316T>A (p.Phe1106Ile)
n.3707T>A
n.3655T>A
Xg.71398588T>CCA413531430TAF1c.2923T>C (p.Phe975Leu)
c.552T>C
c.3637T>C (p.Phe1213Leu)
c.231T>C
c.3574T>C (p.Phe1192Leu)
c.3697T>C (p.Phe1233Leu)
c.3634T>C (p.Phe1212Leu)
c.366T>C
n.3773T>C
c.3694T>C (p.Phe1232Leu)
c.3316T>C (p.Phe1106Leu)
n.3707T>C
n.3655T>C
Xg.71398588T>GCA413531433TAF1c.2923T>G (p.Phe975Val)
c.552T>G
c.3637T>G (p.Phe1213Val)
c.231T>G
c.3574T>G (p.Phe1192Val)
c.3697T>G (p.Phe1233Val)
c.3634T>G (p.Phe1212Val)
c.366T>G
n.3773T>G
c.3694T>G (p.Phe1232Val)
c.3316T>G (p.Phe1106Val)
n.3707T>G
n.3655T>G
Xg.71398589T>ACA413531437TAF1c.2924T>A (p.Phe975Tyr)
c.553T>A
c.3638T>A (p.Phe1213Tyr)
c.232T>A
c.3575T>A (p.Phe1192Tyr)
c.3698T>A (p.Phe1233Tyr)
c.3635T>A (p.Phe1212Tyr)
c.367T>A
n.3774T>A
c.3695T>A (p.Phe1232Tyr)
c.3317T>A (p.Phe1106Tyr)
n.3708T>A
n.3656T>A
Xg.71398589T>CCA413531439TAF1c.2924T>C (p.Phe975Ser)
c.553T>C
c.3638T>C (p.Phe1213Ser)
c.232T>C
c.3575T>C (p.Phe1192Ser)
c.3698T>C (p.Phe1233Ser)
c.3635T>C (p.Phe1212Ser)
c.367T>C
n.3774T>C
c.3695T>C (p.Phe1232Ser)
c.3317T>C (p.Phe1106Ser)
n.3708T>C
n.3656T>C
Xg.71398589T>GCA413531444TAF1c.2924T>G (p.Phe975Cys)
c.553T>G
c.3638T>G (p.Phe1213Cys)
c.232T>G
c.3575T>G (p.Phe1192Cys)
c.3698T>G (p.Phe1233Cys)
c.3635T>G (p.Phe1212Cys)
c.367T>G
n.3774T>G
c.3695T>G (p.Phe1232Cys)
c.3317T>G (p.Phe1106Cys)
n.3708T>G
n.3656T>G
Xg.71398590T>ACA413531448TAF1c.2925T>A (p.Phe975Leu)
c.554T>A
c.3639T>A (p.Phe1213Leu)
c.233T>A
c.3576T>A (p.Phe1192Leu)
c.3699T>A (p.Phe1233Leu)
c.3636T>A (p.Phe1212Leu)
c.368T>A
n.3775T>A
c.3696T>A (p.Phe1232Leu)
c.3318T>A (p.Phe1106Leu)
n.3709T>A
n.3657T>A
Xg.71398590T>CCA516730490TAF1c.2925T>C (p.Phe975=)
c.554T>C
c.3639T>C (p.Phe1213=)
c.233T>C
c.3576T>C (p.Phe1192=)
c.3699T>C (p.Phe1233=)
c.3636T>C (p.Phe1212=)
c.368T>C
n.3775T>C
c.3696T>C (p.Phe1232=)
c.3318T>C (p.Phe1106=)
n.3709T>C
n.3657T>C
Xg.71398590T>GCA413531451TAF1c.2925T>G (p.Phe975Leu)
c.554T>G
c.3639T>G (p.Phe1213Leu)
c.233T>G
c.3576T>G (p.Phe1192Leu)
c.3699T>G (p.Phe1233Leu)
c.3636T>G (p.Phe1212Leu)
c.368T>G
n.3775T>G
c.3696T>G (p.Phe1232Leu)
c.3318T>G (p.Phe1106Leu)
n.3709T>G
n.3657T>G
 dbSNP
Xg.71398591G>ACA413531454TAF1c.2926G>A (p.Asp976Asn)
c.555G>A
c.3640G>A (p.Asp1214Asn)
c.234G>A
c.3577G>A (p.Asp1193Asn)
c.3700G>A (p.Asp1234Asn)
c.3637G>A (p.Asp1213Asn)
c.369G>A
n.3776G>A
c.3697G>A (p.Asp1233Asn)
c.3319G>A (p.Asp1107Asn)
n.3710G>A
n.3658G>A
Xg.71398591G>CCA413531457TAF1c.2926G>C (p.Asp976His)
c.555G>C
c.3640G>C (p.Asp1214His)
c.234G>C
c.3577G>C (p.Asp1193His)
c.3700G>C (p.Asp1234His)
c.3637G>C (p.Asp1213His)
c.369G>C
n.3776G>C
c.3697G>C (p.Asp1233His)
c.3319G>C (p.Asp1107His)
n.3710G>C
n.3658G>C
Xg.71398591G>TCA413531461TAF1c.2926G>T (p.Asp976Tyr)
c.555G>T
c.3640G>T (p.Asp1214Tyr)
c.234G>T
c.3577G>T (p.Asp1193Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3637G>T (p.Asp1213Tyr)
c.369G>T
n.3776G>T
c.3697G>T (p.Asp1233Tyr)
c.3319G>T (p.Asp1107Tyr)
n.3710G>T
n.3658G>T
Xg.71398592A>CCA413531465TAF1c.2927A>C (p.Asp976Ala)
c.556A>C
c.3641A>C (p.Asp1214Ala)
c.235A>C
c.3578A>C (p.Asp1193Ala)
c.3701A>C (p.Asp1234Ala)
c.3638A>C (p.Asp1213Ala)
c.370A>C
n.3777A>C
c.3698A>C (p.Asp1233Ala)
c.3320A>C (p.Asp1107Ala)
n.3711A>C
n.3659A>C
Xg.71398592A>GCA413531468TAF1c.2927A>G (p.Asp976Gly)
c.556A>G
c.3641A>G (p.Asp1214Gly)
c.235A>G
c.3578A>G (p.Asp1193Gly)
c.3701A>G (p.Asp1234Gly)
c.3638A>G (p.Asp1213Gly)
c.370A>G
n.3777A>G
c.3698A>G (p.Asp1233Gly)
c.3320A>G (p.Asp1107Gly)
n.3711A>G
n.3659A>G
Xg.71398592A>TCA413531471TAF1c.2927A>T (p.Asp976Val)
c.556A>T
c.3641A>T (p.Asp1214Val)
c.235A>T
c.3578A>T (p.Asp1193Val)
c.3701A>T (p.Asp1234Val)
c.3638A>T (p.Asp1213Val)
c.370A>T
n.3777A>T
c.3698A>T (p.Asp1233Val)
c.3320A>T (p.Asp1107Val)
n.3711A>T
n.3659A>T
Xg.71398593T>ACA413531476TAF1c.2928T>A (p.Asp976Glu)
c.557T>A
c.3642T>A (p.Asp1214Glu)
c.236T>A
c.3579T>A (p.Asp1193Glu)
c.3702T>A (p.Asp1234Glu)
c.3639T>A (p.Asp1213Glu)
c.371T>A
n.3778T>A
c.3699T>A (p.Asp1233Glu)
c.3321T>A (p.Asp1107Glu)
n.3712T>A
n.3660T>A
Xg.71398593T>CCA516730501TAF1c.2928T>C (p.Asp976=)
c.557T>C
c.3642T>C (p.Asp1214=)
c.236T>C
c.3579T>C (p.Asp1193=)
c.3702T>C (p.Asp1234=)
c.3639T>C (p.Asp1213=)
c.371T>C
n.3778T>C
c.3699T>C (p.Asp1233=)
c.3321T>C (p.Asp1107=)
n.3712T>C
n.3660T>C
Xg.71398593T>GCA413531478TAF1c.2928T>G (p.Asp976Glu)
c.557T>G
c.3642T>G (p.Asp1214Glu)
c.236T>G
c.3579T>G (p.Asp1193Glu)
c.3702T>G (p.Asp1234Glu)
c.3639T>G (p.Asp1213Glu)
c.371T>G
n.3778T>G
c.3699T>G (p.Asp1233Glu)
c.3321T>G (p.Asp1107Glu)
n.3712T>G
n.3660T>G
Xg.71398594G>ACA413531483TAF1c.2929G>A (p.Glu977Lys)
c.558G>A
c.3643G>A (p.Glu1215Lys)
c.237G>A
c.3580G>A (p.Glu1194Lys)
c.3703G>A (p.Glu1235Lys)
c.3640G>A (p.Glu1214Lys)
c.372G>A
n.3779G>A
c.3700G>A (p.Glu1234Lys)
c.3322G>A (p.Glu1108Lys)
n.3713G>A
n.3661G>A
Xg.71398594G>CCA413531486TAF1c.2929G>C (p.Glu977Gln)
c.558G>C
c.3643G>C (p.Glu1215Gln)
c.237G>C
c.3580G>C (p.Glu1194Gln)
c.3703G>C (p.Glu1235Gln)
c.3640G>C (p.Glu1214Gln)
c.372G>C
n.3779G>C
c.3700G>C (p.Glu1234Gln)
c.3322G>C (p.Glu1108Gln)
n.3713G>C
n.3661G>C
 gnomAD v4
Xg.71398594G>TCA413531487TAF1c.2929G>T (p.Glu977Ter)
c.558G>T
c.3643G>T (p.Glu1215Ter)
c.237G>T
c.3580G>T (p.Glu1194Ter)
c.3703G>T (p.Glu1235Ter)
c.3640G>T (p.Glu1214Ter)
c.372G>T
n.3779G>T
c.3700G>T (p.Glu1234Ter)
c.3322G>T (p.Glu1108Ter)
n.3713G>T
n.3661G>T
Xg.71398595A>CCA413531495TAF1c.2930A>C (p.Glu977Ala)
c.559A>C
c.3644A>C (p.Glu1215Ala)
c.238A>C
c.3581A>C (p.Glu1194Ala)
c.3704A>C (p.Glu1235Ala)
c.3641A>C (p.Glu1214Ala)
c.373A>C
n.3780A>C
c.3701A>C (p.Glu1234Ala)
c.3323A>C (p.Glu1108Ala)
n.3714A>C
n.3662A>C
Xg.71398595A>GCA413531493TAF1c.2930A>G (p.Glu977Gly)
c.559A>G
c.3644A>G (p.Glu1215Gly)
c.238A>G
c.3581A>G (p.Glu1194Gly)
c.3704A>G (p.Glu1235Gly)
c.3641A>G (p.Glu1214Gly)
c.373A>G
n.3780A>G
c.3701A>G (p.Glu1234Gly)
c.3323A>G (p.Glu1108Gly)
n.3714A>G
n.3662A>G
Xg.71398595A>TCA413531490TAF1c.2930A>T (p.Glu977Val)
c.559A>T
c.3644A>T (p.Glu1215Val)
c.238A>T
c.3581A>T (p.Glu1194Val)
c.3704A>T (p.Glu1235Val)
c.3641A>T (p.Glu1214Val)
c.373A>T
n.3780A>T
c.3701A>T (p.Glu1234Val)
c.3323A>T (p.Glu1108Val)
n.3714A>T
n.3662A>T
Xg.71398596A=CA2436450088TAF1c.2931A= (p.Glu977=)
c.560A=
c.3645A= (p.Glu1215=)
c.239A=
c.3582A= (p.Glu1194=)
c.3705A= (p.Glu1235=)
c.3642A= (p.Glu1214=)
c.374A=
n.3781A=
c.3702A= (p.Glu1234=)
c.3324A= (p.Glu1108=)
n.3715A=
n.3663A=
Xg.71398596A>CCA413531499TAF1c.2931A>C (p.Glu977Asp)
c.560A>C
c.3645A>C (p.Glu1215Asp)
c.239A>C
c.3582A>C (p.Glu1194Asp)
c.3705A>C (p.Glu1235Asp)
c.3642A>C (p.Glu1214Asp)
c.374A>C
n.3781A>C
c.3702A>C (p.Glu1234Asp)
c.3324A>C (p.Glu1108Asp)
n.3715A>C
n.3663A>C
Xg.71398596A>GCA331021671TAF1c.2931A>G (p.Glu977=)
c.560A>G
c.3645A>G (p.Glu1215=)
c.239A>G
c.3582A>G (p.Glu1194=)
c.3705A>G (p.Glu1235=)
c.3642A>G (p.Glu1214=)
c.374A>G
n.3781A>G
c.3702A>G (p.Glu1234=)
c.3324A>G (p.Glu1108=)
n.3715A>G
n.3663A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.71398596A>TCA413531502TAF1c.2931A>T (p.Glu977Asp)
c.560A>T
c.3645A>T (p.Glu1215Asp)
c.239A>T
c.3582A>T (p.Glu1194Asp)
c.3705A>T (p.Glu1235Asp)
c.3642A>T (p.Glu1214Asp)
c.374A>T
n.3781A>T
c.3702A>T (p.Glu1234Asp)
c.3324A>T (p.Glu1108Asp)
n.3715A>T
n.3663A>T
Xg.71398597C>ACA413531507TAF1c.2932C>A (p.Gln978Lys)
c.561C>A
c.3646C>A (p.Gln1216Lys)
c.240C>A
c.3583C>A (p.Gln1195Lys)
c.3706C>A (p.Gln1236Lys)
c.3643C>A (p.Gln1215Lys)
c.375C>A
n.3782C>A
c.3703C>A (p.Gln1235Lys)
c.3325C>A (p.Gln1109Lys)
n.3716C>A
n.3664C>A
Xg.71398597C>GCA413531510TAF1c.2932C>G (p.Gln978Glu)
c.561C>G
c.3646C>G (p.Gln1216Glu)
c.240C>G
c.3583C>G (p.Gln1195Glu)
c.3706C>G (p.Gln1236Glu)
c.3643C>G (p.Gln1215Glu)
c.375C>G
n.3782C>G
c.3703C>G (p.Gln1235Glu)
c.3325C>G (p.Gln1109Glu)
n.3716C>G
n.3664C>G
Xg.71398597C>TCA413531513TAF1c.2932C>T (p.Gln978Ter)
c.561C>T
c.3646C>T (p.Gln1216Ter)
c.240C>T
c.3583C>T (p.Gln1195Ter)
c.3706C>T (p.Gln1236Ter)
c.3643C>T (p.Gln1215Ter)
c.375C>T
n.3782C>T
c.3703C>T (p.Gln1235Ter)
c.3325C>T (p.Gln1109Ter)
n.3716C>T
n.3664C>T
Xg.71398598A>CCA413531517TAF1c.2933A>C (p.Gln978Pro)
c.562A>C
c.3647A>C (p.Gln1216Pro)
c.241A>C
c.3584A>C (p.Gln1195Pro)
c.3707A>C (p.Gln1236Pro)
c.3644A>C (p.Gln1215Pro)
c.376A>C
n.3783A>C
c.3704A>C (p.Gln1235Pro)
c.3326A>C (p.Gln1109Pro)
n.3717A>C
n.3665A>C
Xg.71398598A>GCA413531518TAF1c.2933A>G (p.Gln978Arg)
c.562A>G
c.3647A>G (p.Gln1216Arg)
c.241A>G
c.3584A>G (p.Gln1195Arg)
c.3707A>G (p.Gln1236Arg)
c.3644A>G (p.Gln1215Arg)
c.376A>G
n.3783A>G
c.3704A>G (p.Gln1235Arg)
c.3326A>G (p.Gln1109Arg)
n.3717A>G
n.3665A>G
Xg.71398598A>TCA413531521TAF1c.2933A>T (p.Gln978Leu)
c.562A>T
c.3647A>T (p.Gln1216Leu)
c.241A>T
c.3584A>T (p.Gln1195Leu)
c.3707A>T (p.Gln1236Leu)
c.3644A>T (p.Gln1215Leu)
c.376A>T
n.3783A>T
c.3704A>T (p.Gln1235Leu)
c.3326A>T (p.Gln1109Leu)
n.3717A>T
n.3665A>T
Xg.71398599A=CA2436450089TAF1c.2934A= (p.Gln978=)
c.563A=
c.3648A= (p.Gln1216=)
c.242A=
c.3585A= (p.Gln1195=)
c.3708A= (p.Gln1236=)
c.3645A= (p.Gln1215=)
c.377A=
n.3784A=
c.3705A= (p.Gln1235=)
c.3327A= (p.Gln1109=)
n.3718A=
n.3666A=
Xg.71398599A>CCA413531527TAF1c.2934A>C (p.Gln978His)
c.563A>C
c.3648A>C (p.Gln1216His)
c.242A>C
c.3585A>C (p.Gln1195His)
c.3708A>C (p.Gln1236His)
c.3645A>C (p.Gln1215His)
c.377A>C
n.3784A>C
c.3705A>C (p.Gln1235His)
c.3327A>C (p.Gln1109His)
n.3718A>C
n.3666A>C
Xg.71398599A>GCA516730505TAF1c.2934A>G (p.Gln978=)
c.563A>G
c.3648A>G (p.Gln1216=)
c.242A>G
c.3585A>G (p.Gln1195=)
c.3708A>G (p.Gln1236=)
c.3645A>G (p.Gln1215=)
c.377A>G
n.3784A>G
c.3705A>G (p.Gln1235=)
c.3327A>G (p.Gln1109=)
n.3718A>G
n.3666A>G
 ClinVar dbSNP
Xg.71398599A>TCA413531529TAF1c.2934A>T (p.Gln978His)
c.563A>T
c.3648A>T (p.Gln1216His)
c.242A>T
c.3585A>T (p.Gln1195His)
c.3708A>T (p.Gln1236His)
c.3645A>T (p.Gln1215His)
c.377A>T
n.3784A>T
c.3705A>T (p.Gln1235His)
c.3327A>T (p.Gln1109His)
n.3718A>T
n.3666A>T
Xg.71398600C>ACA413531532TAF1c.2935C>A (p.His979Asn)
c.564C>A
c.3649C>A (p.His1217Asn)
c.243C>A
c.3586C>A (p.His1196Asn)
c.3709C>A (p.His1237Asn)
c.3646C>A (p.His1216Asn)
c.378C>A
n.3785C>A
c.3706C>A (p.His1236Asn)
c.3328C>A (p.His1110Asn)
n.3719C>A
n.3667C>A
Xg.71398600C>GCA413531535TAF1c.2935C>G (p.His979Asp)
c.564C>G
c.3649C>G (p.His1217Asp)
c.243C>G
c.3586C>G (p.His1196Asp)
c.3709C>G (p.His1237Asp)
c.3646C>G (p.His1216Asp)
c.378C>G
n.3785C>G
c.3706C>G (p.His1236Asp)
c.3328C>G (p.His1110Asp)
n.3719C>G
n.3667C>G
Xg.71398600C>TCA413531537TAF1c.2935C>T (p.His979Tyr)
c.564C>T
c.3649C>T (p.His1217Tyr)
c.243C>T
c.3586C>T (p.His1196Tyr)
c.3709C>T (p.His1237Tyr)
c.3646C>T (p.His1216Tyr)
c.378C>T
n.3785C>T
c.3706C>T (p.His1236Tyr)
c.3328C>T (p.His1110Tyr)
n.3719C>T
n.3667C>T
Xg.71398601A>CCA413531544TAF1c.2936A>C (p.His979Pro)
c.565A>C
c.3650A>C (p.His1217Pro)
c.244A>C
c.3587A>C (p.His1196Pro)
c.3710A>C (p.His1237Pro)
c.3647A>C (p.His1216Pro)
c.379A>C
n.3786A>C
c.3707A>C (p.His1236Pro)
c.3329A>C (p.His1110Pro)
n.3720A>C
n.3668A>C
Xg.71398601A>GCA413531540TAF1c.2936A>G (p.His979Arg)
c.565A>G
c.3650A>G (p.His1217Arg)
c.244A>G
c.3587A>G (p.His1196Arg)
c.3710A>G (p.His1237Arg)
c.3647A>G (p.His1216Arg)
c.379A>G
n.3786A>G
c.3707A>G (p.His1236Arg)
c.3329A>G (p.His1110Arg)
n.3720A>G
n.3668A>G
Xg.71398601A>TCA413531542TAF1c.2936A>T (p.His979Leu)
c.565A>T
c.3650A>T (p.His1217Leu)
c.244A>T
c.3587A>T (p.His1196Leu)
c.3710A>T (p.His1237Leu)
c.3647A>T (p.His1216Leu)
c.379A>T
n.3786A>T
c.3707A>T (p.His1236Leu)
c.3329A>T (p.His1110Leu)
n.3720A>T
n.3668A>T
Xg.71398602T>ACA413531547TAF1c.2937T>A (p.His979Gln)
c.566T>A
c.3651T>A (p.His1217Gln)
c.245T>A
c.3588T>A (p.His1196Gln)
c.3711T>A (p.His1237Gln)
c.3648T>A (p.His1216Gln)
c.380T>A
n.3787T>A
c.3708T>A (p.His1236Gln)
c.3330T>A (p.His1110Gln)
n.3721T>A
n.3669T>A
Xg.71398602T>CCA516730509TAF1c.2937T>C (p.His979=)
c.566T>C
c.3651T>C (p.His1217=)
c.245T>C
c.3588T>C (p.His1196=)
c.3711T>C (p.His1237=)
c.3648T>C (p.His1216=)
c.380T>C
n.3787T>C
c.3708T>C (p.His1236=)
c.3330T>C (p.His1110=)
n.3721T>C
n.3669T>C
Xg.71398602T>GCA413531551TAF1c.2937T>G (p.His979Gln)
c.566T>G
c.3651T>G (p.His1217Gln)
c.245T>G
c.3588T>G (p.His1196Gln)
c.3711T>G (p.His1237Gln)
c.3648T>G (p.His1216Gln)
c.380T>G
n.3787T>G
c.3708T>G (p.His1236Gln)
c.3330T>G (p.His1110Gln)
n.3721T>G
n.3669T>G
Xg.71398603C>ACA516730510TAF1c.2938C>A (p.Arg980=)
c.567C>A
c.3652C>A (p.Arg1218=)
c.246C>A
c.3589C>A (p.Arg1197=)
c.3712C>A (p.Arg1238=)
c.3649C>A (p.Arg1217=)
c.381C>A
n.3788C>A
c.3709C>A (p.Arg1237=)
c.3331C>A (p.Arg1111=)
n.3722C>A
n.3670C>A
Xg.71398603C>GCA413531554TAF1c.2938C>G (p.Arg980Gly)
c.567C>G
c.3652C>G (p.Arg1218Gly)
c.246C>G
c.3589C>G (p.Arg1197Gly)
c.3712C>G (p.Arg1238Gly)
c.3649C>G (p.Arg1217Gly)
c.381C>G
n.3788C>G
c.3709C>G (p.Arg1237Gly)
c.3331C>G (p.Arg1111Gly)
n.3722C>G
n.3670C>G
Xg.71398603C>TCA413531556TAF1c.2938C>T (p.Arg980Trp)
c.567C>T
c.3652C>T (p.Arg1218Trp)
c.246C>T
c.3589C>T (p.Arg1197Trp)
c.3712C>T (p.Arg1238Trp)
c.3649C>T (p.Arg1217Trp)
c.381C>T
n.3788C>T
c.3709C>T (p.Arg1237Trp)
c.3331C>T (p.Arg1111Trp)
n.3722C>T
n.3670C>T
 COSMIC COSMIC COSMIC
Xg.71398604G>ACA413531558TAF1c.2939G>A (p.Arg980Gln)
c.568G>A
c.3653G>A (p.Arg1218Gln)
c.247G>A
c.3590G>A (p.Arg1197Gln)
c.3713G>A (p.Arg1238Gln)
c.3650G>A (p.Arg1217Gln)
c.382G>A
n.3789G>A
c.3710G>A (p.Arg1237Gln)
c.3332G>A (p.Arg1111Gln)
n.3723G>A
n.3671G>A
 gnomAD v4 COSMIC COSMIC
Xg.71398604G>CCA413531559TAF1c.2939G>C (p.Arg980Pro)
c.568G>C
c.3653G>C (p.Arg1218Pro)
c.247G>C
c.3590G>C (p.Arg1197Pro)
c.3713G>C (p.Arg1238Pro)
c.3650G>C (p.Arg1217Pro)
c.382G>C
n.3789G>C
c.3710G>C (p.Arg1237Pro)
c.3332G>C (p.Arg1111Pro)
n.3723G>C
n.3671G>C
Xg.71398604G>TCA413531561TAF1c.2939G>T (p.Arg980Leu)
c.568G>T
c.3653G>T (p.Arg1218Leu)
c.247G>T
c.3590G>T (p.Arg1197Leu)
c.3713G>T (p.Arg1238Leu)
c.3650G>T (p.Arg1217Leu)
c.382G>T
n.3789G>T
c.3710G>T (p.Arg1237Leu)
c.3332G>T (p.Arg1111Leu)
n.3723G>T
n.3671G>T
Xg.71398605G>ACA516730512TAF1c.2940G>A (p.Arg980=)
c.569G>A
c.3654G>A (p.Arg1218=)
c.248G>A
c.3591G>A (p.Arg1197=)
c.3714G>A (p.Arg1238=)
c.3651G>A (p.Arg1217=)
c.383G>A
n.3790G>A
c.3711G>A (p.Arg1237=)
c.3333G>A (p.Arg1111=)
n.3724G>A
n.3672G>A
 dbSNP
Xg.71398605G>CCA516730513TAF1c.2940G>C (p.Arg980=)
c.569G>C
c.3654G>C (p.Arg1218=)
c.248G>C
c.3591G>C (p.Arg1197=)
c.3714G>C (p.Arg1238=)
c.3651G>C (p.Arg1217=)
c.383G>C
n.3790G>C
c.3711G>C (p.Arg1237=)
c.3333G>C (p.Arg1111=)
n.3724G>C
n.3672G>C
Xg.71398605G>TCA516730514TAF1c.2940G>T (p.Arg980=)
c.569G>T
c.3654G>T (p.Arg1218=)
c.248G>T
c.3591G>T (p.Arg1197=)
c.3714G>T (p.Arg1238=)
c.3651G>T (p.Arg1217=)
c.383G>T
n.3790G>T
c.3711G>T (p.Arg1237=)
c.3333G>T (p.Arg1111=)
n.3724G>T
n.3672G>T
Xg.71398606G>ACA413531564TAF1c.2941G>A (p.Glu981Lys)
c.570G>A
c.3655G>A (p.Glu1219Lys)
c.249G>A
c.3592G>A (p.Glu1198Lys)
c.3715G>A (p.Glu1239Lys)
c.3652G>A (p.Glu1218Lys)
c.384G>A
n.3791G>A
c.3712G>A (p.Glu1238Lys)
c.3334G>A (p.Glu1112Lys)
n.3725G>A
n.3673G>A
Xg.71398606G>CCA413531566TAF1c.2941G>C (p.Glu981Gln)
c.570G>C
c.3655G>C (p.Glu1219Gln)
c.249G>C
c.3592G>C (p.Glu1198Gln)
c.3715G>C (p.Glu1239Gln)
c.3652G>C (p.Glu1218Gln)
c.384G>C
n.3791G>C
c.3712G>C (p.Glu1238Gln)
c.3334G>C (p.Glu1112Gln)
n.3725G>C
n.3673G>C
Xg.71398606G>TCA413531570TAF1c.2941G>T (p.Glu981Ter)
c.570G>T
c.3655G>T (p.Glu1219Ter)
c.249G>T
c.3592G>T (p.Glu1198Ter)
c.3715G>T (p.Glu1239Ter)
c.3652G>T (p.Glu1218Ter)
c.384G>T
n.3791G>T
c.3712G>T (p.Glu1238Ter)
c.3334G>T (p.Glu1112Ter)
n.3725G>T
n.3673G>T
Xg.71398607A>CCA413531573TAF1c.2942A>C (p.Glu981Ala)
c.571A>C
c.3656A>C (p.Glu1219Ala)
c.250A>C
c.3593A>C (p.Glu1198Ala)
c.3716A>C (p.Glu1239Ala)
c.3653A>C (p.Glu1218Ala)
c.385A>C
n.3792A>C
c.3713A>C (p.Glu1238Ala)
c.3335A>C (p.Glu1112Ala)
n.3726A>C
n.3674A>C
Xg.71398607A>GCA413531575TAF1c.2942A>G (p.Glu981Gly)
c.571A>G
c.3656A>G (p.Glu1219Gly)
c.250A>G
c.3593A>G (p.Glu1198Gly)
c.3716A>G (p.Glu1239Gly)
c.3653A>G (p.Glu1218Gly)
c.385A>G
n.3792A>G
c.3713A>G (p.Glu1238Gly)
c.3335A>G (p.Glu1112Gly)
n.3726A>G
n.3674A>G
Xg.71398607A>TCA413531578TAF1c.2942A>T (p.Glu981Val)
c.571A>T
c.3656A>T (p.Glu1219Val)
c.250A>T
c.3593A>T (p.Glu1198Val)
c.3716A>T (p.Glu1239Val)
c.3653A>T (p.Glu1218Val)
c.385A>T
n.3792A>T
c.3713A>T (p.Glu1238Val)
c.3335A>T (p.Glu1112Val)
n.3726A>T
n.3674A>T
Xg.71398608A>CCA413531582TAF1c.2943A>C (p.Glu981Asp)
c.572A>C
c.3657A>C (p.Glu1219Asp)
c.251A>C
c.3594A>C (p.Glu1198Asp)
c.3717A>C (p.Glu1239Asp)
c.3654A>C (p.Glu1218Asp)
c.386A>C
n.3793A>C
c.3714A>C (p.Glu1238Asp)
c.3336A>C (p.Glu1112Asp)
n.3727A>C
n.3675A>C
Xg.71398608A>GCA516730519TAF1c.2943A>G (p.Glu981=)
c.572A>G
c.3657A>G (p.Glu1219=)
c.251A>G
c.3594A>G (p.Glu1198=)
c.3717A>G (p.Glu1239=)
c.3654A>G (p.Glu1218=)
c.386A>G
n.3793A>G
c.3714A>G (p.Glu1238=)
c.3336A>G (p.Glu1112=)
n.3727A>G
n.3675A>G
Xg.71398608A>TCA413531580TAF1c.2943A>T (p.Glu981Asp)
c.572A>T
c.3657A>T (p.Glu1219Asp)
c.251A>T
c.3594A>T (p.Glu1198Asp)
c.3717A>T (p.Glu1239Asp)
c.3654A>T (p.Glu1218Asp)
c.386A>T
n.3793A>T
c.3714A>T (p.Glu1238Asp)
c.3336A>T (p.Glu1112Asp)
n.3727A>T
n.3675A>T
Xg.71398609G>ACA413531585TAF1c.2944G>A (p.Glu982Lys)
c.573G>A
c.3658G>A (p.Glu1220Lys)
c.252G>A
c.3595G>A (p.Glu1199Lys)
c.3718G>A (p.Glu1240Lys)
c.3655G>A (p.Glu1219Lys)
c.387G>A
n.3794G>A
c.3715G>A (p.Glu1239Lys)
c.3337G>A (p.Glu1113Lys)
n.3728G>A
n.3676G>A
Xg.71398609G>CCA413531588TAF1c.2944G>C (p.Glu982Gln)
c.573G>C
c.3658G>C (p.Glu1220Gln)
c.252G>C
c.3595G>C (p.Glu1199Gln)
c.3718G>C (p.Glu1240Gln)
c.3655G>C (p.Glu1219Gln)
c.387G>C
n.3794G>C
c.3715G>C (p.Glu1239Gln)
c.3337G>C (p.Glu1113Gln)
n.3728G>C
n.3676G>C
Xg.71398609G>TCA413531591TAF1c.2944G>T (p.Glu982Ter)
c.573G>T
c.3658G>T (p.Glu1220Ter)
c.252G>T
c.3595G>T (p.Glu1199Ter)
c.3718G>T (p.Glu1240Ter)
c.3655G>T (p.Glu1219Ter)
c.387G>T
n.3794G>T
c.3715G>T (p.Glu1239Ter)
c.3337G>T (p.Glu1113Ter)
n.3728G>T
n.3676G>T
Xg.71398610A>CCA413531594TAF1c.2945A>C (p.Glu982Ala)
c.574A>C
c.3659A>C (p.Glu1220Ala)
c.253A>C
c.3596A>C (p.Glu1199Ala)
c.3719A>C (p.Glu1240Ala)
c.3656A>C (p.Glu1219Ala)
c.388A>C
n.3795A>C
c.3716A>C (p.Glu1239Ala)
c.3338A>C (p.Glu1113Ala)
n.3729A>C
n.3677A>C
Xg.71398610A>GCA413531596TAF1c.2945A>G (p.Glu982Gly)
c.574A>G
c.3659A>G (p.Glu1220Gly)
c.253A>G
c.3596A>G (p.Glu1199Gly)
c.3719A>G (p.Glu1240Gly)
c.3656A>G (p.Glu1219Gly)
c.388A>G
n.3795A>G
c.3716A>G (p.Glu1239Gly)
c.3338A>G (p.Glu1113Gly)
n.3729A>G
n.3677A>G
 COSMIC COSMIC COSMIC
Xg.71398610A>TCA413531598TAF1c.2945A>T (p.Glu982Val)
c.574A>T
c.3659A>T (p.Glu1220Val)
c.253A>T
c.3596A>T (p.Glu1199Val)
c.3719A>T (p.Glu1240Val)
c.3656A>T (p.Glu1219Val)
c.388A>T
n.3795A>T
c.3716A>T (p.Glu1239Val)
c.3338A>T (p.Glu1113Val)
n.3729A>T
n.3677A>T
Xg.71398611G>ACA516730521TAF1c.2946G>A (p.Glu982=)
c.575G>A
c.3660G>A (p.Glu1220=)
c.254G>A
c.3597G>A (p.Glu1199=)
c.3720G>A (p.Glu1240=)
c.3657G>A (p.Glu1219=)
c.389G>A
n.3796G>A
c.3717G>A (p.Glu1239=)
c.3339G>A (p.Glu1113=)
n.3730G>A
n.3678G>A
Xg.71398611G>CCA413531604TAF1c.2946G>C (p.Glu982Asp)
c.575G>C
c.3660G>C (p.Glu1220Asp)
c.254G>C
c.3597G>C (p.Glu1199Asp)
c.3720G>C (p.Glu1240Asp)
c.3657G>C (p.Glu1219Asp)
c.389G>C
n.3796G>C
c.3717G>C (p.Glu1239Asp)
c.3339G>C (p.Glu1113Asp)
n.3730G>C
n.3678G>C
 dbSNP gnomAD v2 gnomAD v4
Xg.71398611G=CA2436450090TAF1c.2946G= (p.Glu982=)
c.575G=
c.3660G= (p.Glu1220=)
c.254G=
c.3597G= (p.Glu1199=)
c.3720G= (p.Glu1240=)
c.3657G= (p.Glu1219=)
c.389G=
n.3796G=
c.3717G= (p.Glu1239=)
c.3339G= (p.Glu1113=)
n.3730G=
n.3678G=
Xg.71398611G>TCA413531602TAF1c.2946G>T (p.Glu982Asp)
c.575G>T
c.3660G>T (p.Glu1220Asp)
c.254G>T
c.3597G>T (p.Glu1199Asp)
c.3720G>T (p.Glu1240Asp)
c.3657G>T (p.Glu1219Asp)
c.389G>T
n.3796G>T
c.3717G>T (p.Glu1239Asp)
c.3339G>T (p.Glu1113Asp)
n.3730G>T
n.3678G>T
Xg.71398612A>CCA413531606TAF1c.2947A>C (p.Met983Leu)
c.576A>C
c.3661A>C (p.Met1221Leu)
c.255A>C
c.3598A>C (p.Met1200Leu)
c.3721A>C (p.Met1241Leu)
c.3658A>C (p.Met1220Leu)
c.390A>C
n.3797A>C
c.3718A>C (p.Met1240Leu)
c.3340A>C (p.Met1114Leu)
n.3731A>C
n.3679A>C
Xg.71398612A>GCA413531609TAF1c.2947A>G (p.Met983Val)
c.576A>G
c.3661A>G (p.Met1221Val)
c.255A>G
c.3598A>G (p.Met1200Val)
c.3721A>G (p.Met1241Val)
c.3658A>G (p.Met1220Val)
c.390A>G
n.3797A>G
c.3718A>G (p.Met1240Val)
c.3340A>G (p.Met1114Val)
n.3731A>G
n.3679A>G
 gnomAD v4
Xg.71398612A>TCA413531612TAF1c.2947A>T (p.Met983Leu)
c.576A>T
c.3661A>T (p.Met1221Leu)
c.255A>T
c.3598A>T (p.Met1200Leu)
c.3721A>T (p.Met1241Leu)
c.3658A>T (p.Met1220Leu)
c.390A>T
n.3797A>T
c.3718A>T (p.Met1240Leu)
c.3340A>T (p.Met1114Leu)
n.3731A>T
n.3679A>T
Xg.71398613T>ACA413531615TAF1c.2948T>A (p.Met983Lys)
c.577T>A
c.3662T>A (p.Met1221Lys)
c.256T>A
c.3599T>A (p.Met1200Lys)
c.3722T>A (p.Met1241Lys)
c.3659T>A (p.Met1220Lys)
c.391T>A
n.3798T>A
c.3719T>A (p.Met1240Lys)
c.3341T>A (p.Met1114Lys)
n.3732T>A
n.3680T>A
Xg.71398613T>CCA413531617TAF1c.2948T>C (p.Met983Thr)
c.577T>C
c.3662T>C (p.Met1221Thr)
c.256T>C
c.3599T>C (p.Met1200Thr)
c.3722T>C (p.Met1241Thr)
c.3659T>C (p.Met1220Thr)
c.391T>C
n.3798T>C
c.3719T>C (p.Met1240Thr)
c.3341T>C (p.Met1114Thr)
n.3732T>C
n.3680T>C
Xg.71398613T>GCA413531620TAF1c.2948T>G (p.Met983Arg)
c.577T>G
c.3662T>G (p.Met1221Arg)
c.256T>G
c.3599T>G (p.Met1200Arg)
c.3722T>G (p.Met1241Arg)
c.3659T>G (p.Met1220Arg)
c.391T>G
n.3798T>G
c.3719T>G (p.Met1240Arg)
c.3341T>G (p.Met1114Arg)
n.3732T>G
n.3680T>G
Xg.71398614G>ACA413531630TAF1c.2949G>A (p.Met983Ile)
c.578G>A
c.3663G>A (p.Met1221Ile)
c.257G>A
c.3600G>A (p.Met1200Ile)
c.3723G>A (p.Met1241Ile)
c.3660G>A (p.Met1220Ile)
c.392G>A
n.3799G>A
c.3720G>A (p.Met1240Ile)
c.3342G>A (p.Met1114Ile)
n.3733G>A
n.3681G>A
Xg.71398614G>CCA413531625TAF1c.2949G>C (p.Met983Ile)
c.578G>C
c.3663G>C (p.Met1221Ile)
c.257G>C
c.3600G>C (p.Met1200Ile)
c.3723G>C (p.Met1241Ile)
c.3660G>C (p.Met1220Ile)
c.392G>C
n.3799G>C
c.3720G>C (p.Met1240Ile)
c.3342G>C (p.Met1114Ile)
n.3733G>C
n.3681G>C
Xg.71398614G>TCA413531628TAF1c.2949G>T (p.Met983Ile)
c.578G>T
c.3663G>T (p.Met1221Ile)
c.257G>T
c.3600G>T (p.Met1200Ile)
c.3723G>T (p.Met1241Ile)
c.3660G>T (p.Met1220Ile)
c.392G>T
n.3799G>T
c.3720G>T (p.Met1240Ile)
c.3342G>T (p.Met1114Ile)
n.3733G>T
n.3681G>T
Xg.71398615C>ACA516730522TAF1c.2950C>A (p.Arg984=)
c.579C>A
c.3664C>A (p.Arg1222=)
c.258C>A
c.3601C>A (p.Arg1201=)
c.3724C>A (p.Arg1242=)
c.3661C>A (p.Arg1221=)
c.393C>A
n.3800C>A
c.3721C>A (p.Arg1241=)
c.3343C>A (p.Arg1115=)
n.3734C>A
n.3682C>A
Xg.71398615C>GCA413531635TAF1c.2950C>G (p.Arg984Gly)
c.579C>G
c.3664C>G (p.Arg1222Gly)
c.258C>G
c.3601C>G (p.Arg1201Gly)
c.3724C>G (p.Arg1242Gly)
c.3661C>G (p.Arg1221Gly)
c.393C>G
n.3800C>G
c.3721C>G (p.Arg1241Gly)
c.3343C>G (p.Arg1115Gly)
n.3734C>G
n.3682C>G
Xg.71398615C>TCA413531637TAF1c.2950C>T (p.Arg984Ter)
c.579C>T
c.3664C>T (p.Arg1222Ter)
c.258C>T
c.3601C>T (p.Arg1201Ter)
c.3724C>T (p.Arg1242Ter)
c.3661C>T (p.Arg1221Ter)
c.393C>T
n.3800C>T
c.3721C>T (p.Arg1241Ter)
c.3343C>T (p.Arg1115Ter)
n.3734C>T
n.3682C>T
 COSMIC COSMIC
Xg.71398616G>ACA413531640TAF1c.2951G>A (p.Arg984Gln)
c.580G>A
c.3665G>A (p.Arg1222Gln)
c.259G>A
c.3602G>A (p.Arg1201Gln)
c.3725G>A (p.Arg1242Gln)
c.3662G>A (p.Arg1221Gln)
c.394G>A
n.3801G>A
c.3722G>A (p.Arg1241Gln)
c.3344G>A (p.Arg1115Gln)
n.3735G>A
n.3683G>A
 dbSNP COSMIC COSMIC COSMIC
Xg.71398616G>CCA413531642TAF1c.2951G>C (p.Arg984Pro)
c.580G>C
c.3665G>C (p.Arg1222Pro)
c.259G>C
c.3602G>C (p.Arg1201Pro)
c.3725G>C (p.Arg1242Pro)
c.3662G>C (p.Arg1221Pro)
c.394G>C
n.3801G>C
c.3722G>C (p.Arg1241Pro)
c.3344G>C (p.Arg1115Pro)
n.3735G>C
n.3683G>C
Xg.71398616G=CA2436450091TAF1c.2951G= (p.Arg984=)
c.580G=
c.3665G= (p.Arg1222=)
c.259G=
c.3602G= (p.Arg1201=)
c.3725G= (p.Arg1242=)
c.3662G= (p.Arg1221=)
c.394G=
n.3801G=
c.3722G= (p.Arg1241=)
c.3344G= (p.Arg1115=)
n.3735G=
n.3683G=
Xg.71398616G>TCA413531645TAF1c.2951G>T (p.Arg984Leu)
c.580G>T
c.3665G>T (p.Arg1222Leu)
c.259G>T
c.3602G>T (p.Arg1201Leu)
c.3725G>T (p.Arg1242Leu)
c.3662G>T (p.Arg1221Leu)
c.394G>T
n.3801G>T
c.3722G>T (p.Arg1241Leu)
c.3344G>T (p.Arg1115Leu)
n.3735G>T
n.3683G>T
Xg.71398617A>CCA516730524TAF1c.2952A>C (p.Arg984=)
c.581A>C
c.3666A>C (p.Arg1222=)
c.260A>C
c.3603A>C (p.Arg1201=)
c.3726A>C (p.Arg1242=)
c.3663A>C (p.Arg1221=)
c.395A>C
n.3802A>C
c.3723A>C (p.Arg1241=)
c.3345A>C (p.Arg1115=)
n.3736A>C
n.3684A>C
Xg.71398617A>GCA516730525TAF1c.2952A>G (p.Arg984=)
c.581A>G
c.3666A>G (p.Arg1222=)
c.260A>G
c.3603A>G (p.Arg1201=)
c.3726A>G (p.Arg1242=)
c.3663A>G (p.Arg1221=)
c.395A>G
n.3802A>G
c.3723A>G (p.Arg1241=)
c.3345A>G (p.Arg1115=)
n.3736A>G
n.3684A>G
Xg.71398617A>TCA516730526TAF1c.2952A>T (p.Arg984=)
c.581A>T
c.3666A>T (p.Arg1222=)
c.260A>T
c.3603A>T (p.Arg1201=)
c.3726A>T (p.Arg1242=)
c.3663A>T (p.Arg1221=)
c.395A>T
n.3802A>T
c.3723A>T (p.Arg1241=)
c.3345A>T (p.Arg1115=)
n.3736A>T
n.3684A>T
Xg.71398618A>CCA413531647TAF1c.2953A>C (p.Lys985Gln)
c.582A>C
c.3667A>C (p.Lys1223Gln)
c.261A>C
c.3604A>C (p.Lys1202Gln)
c.3727A>C (p.Lys1243Gln)
c.3664A>C (p.Lys1222Gln)
c.396A>C
n.3803A>C
c.3724A>C (p.Lys1242Gln)
c.3346A>C (p.Lys1116Gln)
n.3737A>C
n.3685A>C
Xg.71398618A>GCA413531649TAF1c.2953A>G (p.Lys985Glu)
c.582A>G
c.3667A>G (p.Lys1223Glu)
c.261A>G
c.3604A>G (p.Lys1202Glu)
c.3727A>G (p.Lys1243Glu)
c.3664A>G (p.Lys1222Glu)
c.396A>G
n.3803A>G
c.3724A>G (p.Lys1242Glu)
c.3346A>G (p.Lys1116Glu)
n.3737A>G
n.3685A>G
Xg.71398618A>TCA413531658TAF1c.2953A>T (p.Lys985Ter)
c.582A>T
c.3667A>T (p.Lys1223Ter)
c.261A>T
c.3604A>T (p.Lys1202Ter)
c.3727A>T (p.Lys1243Ter)
c.3664A>T (p.Lys1222Ter)
c.396A>T
n.3803A>T
c.3724A>T (p.Lys1242Ter)
c.3346A>T (p.Lys1116Ter)
n.3737A>T
n.3685A>T
Xg.71398619A>CCA413531665TAF1c.2954A>C (p.Lys985Thr)
c.583A>C
c.3668A>C (p.Lys1223Thr)
c.262A>C
c.3605A>C (p.Lys1202Thr)
c.3728A>C (p.Lys1243Thr)
c.3665A>C (p.Lys1222Thr)
c.397A>C
n.3804A>C
c.3725A>C (p.Lys1242Thr)
c.3347A>C (p.Lys1116Thr)
n.3738A>C
n.3686A>C
Xg.71398619A>GCA413531667TAF1c.2954A>G (p.Lys985Arg)
c.583A>G
c.3668A>G (p.Lys1223Arg)
c.262A>G
c.3605A>G (p.Lys1202Arg)
c.3728A>G (p.Lys1243Arg)
c.3665A>G (p.Lys1222Arg)
c.397A>G
n.3804A>G
c.3725A>G (p.Lys1242Arg)
c.3347A>G (p.Lys1116Arg)
n.3738A>G
n.3686A>G
Xg.71398619A>TCA413531671TAF1c.2954A>T (p.Lys985Ile)
c.583A>T
c.3668A>T (p.Lys1223Ile)
c.262A>T
c.3605A>T (p.Lys1202Ile)
c.3728A>T (p.Lys1243Ile)
c.3665A>T (p.Lys1222Ile)
c.397A>T
n.3804A>T
c.3725A>T (p.Lys1242Ile)
c.3347A>T (p.Lys1116Ile)
n.3738A>T
n.3686A>T
Xg.71398620A>CCA413531674TAF1c.2955A>C (p.Lys985Asn)
c.584A>C
c.3669A>C (p.Lys1223Asn)
c.263A>C
c.3606A>C (p.Lys1202Asn)
c.3729A>C (p.Lys1243Asn)
c.3666A>C (p.Lys1222Asn)
c.398A>C
n.3805A>C
c.3726A>C (p.Lys1242Asn)
c.3348A>C (p.Lys1116Asn)
n.3739A>C
n.3687A>C
Xg.71398620A>GCA516730527TAF1c.2955A>G (p.Lys985=)
c.584A>G
c.3669A>G (p.Lys1223=)
c.263A>G
c.3606A>G (p.Lys1202=)
c.3729A>G (p.Lys1243=)
c.3666A>G (p.Lys1222=)
c.398A>G
n.3805A>G
c.3726A>G (p.Lys1242=)
c.3348A>G (p.Lys1116=)
n.3739A>G
n.3687A>G
Xg.71398620A>TCA413531677TAF1c.2955A>T (p.Lys985Asn)
c.584A>T
c.3669A>T (p.Lys1223Asn)
c.263A>T
c.3606A>T (p.Lys1202Asn)
c.3729A>T (p.Lys1243Asn)
c.3666A>T (p.Lys1222Asn)
c.398A>T
n.3805A>T
c.3726A>T (p.Lys1242Asn)
c.3348A>T (p.Lys1116Asn)
n.3739A>T
n.3687A>T
Xg.71398621G>ACA413531689TAF1c.2956G>A (p.Glu986Lys)
c.585G>A
c.3670G>A (p.Glu1224Lys)
c.264G>A
c.3607G>A (p.Glu1203Lys)
c.3730G>A (p.Glu1244Lys)
c.3667G>A (p.Glu1223Lys)
c.399G>A
n.3806G>A
c.3727G>A (p.Glu1243Lys)
c.3349G>A (p.Glu1117Lys)
n.3740G>A
n.3688G>A
Xg.71398621G>CCA413531681TAF1c.2956G>C (p.Glu986Gln)
c.585G>C
c.3670G>C (p.Glu1224Gln)
c.264G>C
c.3607G>C (p.Glu1203Gln)
c.3730G>C (p.Glu1244Gln)
c.3667G>C (p.Glu1223Gln)
c.399G>C
n.3806G>C
c.3727G>C (p.Glu1243Gln)
c.3349G>C (p.Glu1117Gln)
n.3740G>C
n.3688G>C
Xg.71398621G>TCA413531686TAF1c.2956G>T (p.Glu986Ter)
c.585G>T
c.3670G>T (p.Glu1224Ter)
c.264G>T
c.3607G>T (p.Glu1203Ter)
c.3730G>T (p.Glu1244Ter)
c.3667G>T (p.Glu1223Ter)
c.399G>T
n.3806G>T
c.3727G>T (p.Glu1243Ter)
c.3349G>T (p.Glu1117Ter)
n.3740G>T
n.3688G>T
Xg.71398622A>CCA413531697TAF1c.2957A>C (p.Glu986Ala)
c.586A>C
c.3671A>C (p.Glu1224Ala)
c.265A>C
c.3608A>C (p.Glu1203Ala)
c.3731A>C (p.Glu1244Ala)
c.3668A>C (p.Glu1223Ala)
c.400A>C
n.3807A>C
c.3728A>C (p.Glu1243Ala)
c.3350A>C (p.Glu1117Ala)
n.3741A>C
n.3689A>C
Xg.71398622A>GCA413531702TAF1c.2957A>G (p.Glu986Gly)
c.586A>G
c.3671A>G (p.Glu1224Gly)
c.265A>G
c.3608A>G (p.Glu1203Gly)
c.3731A>G (p.Glu1244Gly)
c.3668A>G (p.Glu1223Gly)
c.400A>G
n.3807A>G
c.3728A>G (p.Glu1243Gly)
c.3350A>G (p.Glu1117Gly)
n.3741A>G
n.3689A>G
Xg.71398622A>TCA413531699TAF1c.2957A>T (p.Glu986Val)
c.586A>T
c.3671A>T (p.Glu1224Val)
c.265A>T
c.3608A>T (p.Glu1203Val)
c.3731A>T (p.Glu1244Val)
c.3668A>T (p.Glu1223Val)
c.400A>T
n.3807A>T
c.3728A>T (p.Glu1243Val)
c.3350A>T (p.Glu1117Val)
n.3741A>T
n.3689A>T
Xg.71398623A>CCA413531707TAF1c.2958A>C (p.Glu986Asp)
c.587A>C
c.3672A>C (p.Glu1224Asp)
c.266A>C
c.3609A>C (p.Glu1203Asp)
c.3732A>C (p.Glu1244Asp)
c.3669A>C (p.Glu1223Asp)
c.401A>C
n.3808A>C
c.3729A>C (p.Glu1243Asp)
c.3351A>C (p.Glu1117Asp)
n.3742A>C
n.3690A>C
Xg.71398623A>GCA516730528TAF1c.2958A>G (p.Glu986=)
c.587A>G
c.3672A>G (p.Glu1224=)
c.266A>G
c.3609A>G (p.Glu1203=)
c.3732A>G (p.Glu1244=)
c.3669A>G (p.Glu1223=)
c.401A>G
n.3808A>G
c.3729A>G (p.Glu1243=)
c.3351A>G (p.Glu1117=)
n.3742A>G
n.3690A>G
 gnomAD v4
Xg.71398623A>TCA413531709TAF1c.2958A>T (p.Glu986Asp)
c.587A>T
c.3672A>T (p.Glu1224Asp)
c.266A>T
c.3609A>T (p.Glu1203Asp)
c.3732A>T (p.Glu1244Asp)
c.3669A>T (p.Glu1223Asp)
c.401A>T
n.3808A>T
c.3729A>T (p.Glu1243Asp)
c.3351A>T (p.Glu1117Asp)
n.3742A>T
n.3690A>T
Xg.71398624C>ACA516730529TAF1c.2959C>A (p.Arg987=)
c.588C>A
c.3673C>A (p.Arg1225=)
c.267C>A
c.3610C>A (p.Arg1204=)
c.3733C>A (p.Arg1245=)
c.3670C>A (p.Arg1224=)
c.402C>A
n.3809C>A
c.3730C>A (p.Arg1244=)
c.3352C>A (p.Arg1118=)
n.3743C>A
n.3691C>A
Xg.71398624C>GCA413531712TAF1c.2959C>G (p.Arg987Gly)
c.588C>G
c.3673C>G (p.Arg1225Gly)
c.267C>G
c.3610C>G (p.Arg1204Gly)
c.3733C>G (p.Arg1245Gly)
c.3670C>G (p.Arg1224Gly)
c.402C>G
n.3809C>G
c.3730C>G (p.Arg1244Gly)
c.3352C>G (p.Arg1118Gly)
n.3743C>G
n.3691C>G
Xg.71398624C>TCA413531715TAF1c.2959C>T (p.Arg987Trp)
c.588C>T
c.3673C>T (p.Arg1225Trp)
c.267C>T
c.3610C>T (p.Arg1204Trp)
c.3733C>T (p.Arg1245Trp)
c.3670C>T (p.Arg1224Trp)
c.402C>T
n.3809C>T
c.3730C>T (p.Arg1244Trp)
c.3352C>T (p.Arg1118Trp)
n.3743C>T
n.3691C>T
 dbSNP COSMIC COSMIC COSMIC
Xg.71398625G>ACA413531718TAF1c.2960G>A (p.Arg987Gln)
c.589G>A
c.3674G>A (p.Arg1225Gln)
c.268G>A
c.3611G>A (p.Arg1204Gln)
c.3734G>A (p.Arg1245Gln)
c.3671G>A (p.Arg1224Gln)
c.403G>A
n.3810G>A
c.3731G>A (p.Arg1244Gln)
c.3353G>A (p.Arg1118Gln)
n.3744G>A
n.3692G>A
 dbSNP COSMIC COSMIC COSMIC
Xg.71398625G>CCA413531721TAF1c.2960G>C (p.Arg987Pro)
c.589G>C
c.3674G>C (p.Arg1225Pro)
c.268G>C
c.3611G>C (p.Arg1204Pro)
c.3734G>C (p.Arg1245Pro)
c.3671G>C (p.Arg1224Pro)
c.403G>C
n.3810G>C
c.3731G>C (p.Arg1244Pro)
c.3353G>C (p.Arg1118Pro)
n.3744G>C
n.3692G>C
Xg.71398625G>TCA413531723TAF1c.2960G>T (p.Arg987Leu)
c.589G>T
c.3674G>T (p.Arg1225Leu)
c.268G>T
c.3611G>T (p.Arg1204Leu)
c.3734G>T (p.Arg1245Leu)
c.3671G>T (p.Arg1224Leu)
c.403G>T
n.3810G>T
c.3731G>T (p.Arg1244Leu)
c.3353G>T (p.Arg1118Leu)
n.3744G>T
n.3692G>T
Xg.71398626G>ACA516730531TAF1c.2961G>A (p.Arg987=)
c.590G>A
c.3675G>A (p.Arg1225=)
c.269G>A
c.3612G>A (p.Arg1204=)
c.3735G>A (p.Arg1245=)
c.3672G>A (p.Arg1224=)
c.404G>A
n.3811G>A
c.3732G>A (p.Arg1244=)
c.3354G>A (p.Arg1118=)
n.3745G>A
n.3693G>A
Xg.71398626G>CCA516730533TAF1c.2961G>C (p.Arg987=)
c.590G>C
c.3675G>C (p.Arg1225=)
c.269G>C
c.3612G>C (p.Arg1204=)
c.3735G>C (p.Arg1245=)
c.3672G>C (p.Arg1224=)
c.404G>C
n.3811G>C
c.3732G>C (p.Arg1244=)
c.3354G>C (p.Arg1118=)
n.3745G>C
n.3693G>C
Xg.71398626G>TCA516730534TAF1c.2961G>T (p.Arg987=)
c.590G>T
c.3675G>T (p.Arg1225=)
c.269G>T
c.3612G>T (p.Arg1204=)
c.3735G>T (p.Arg1245=)
c.3672G>T (p.Arg1224=)
c.404G>T
n.3811G>T
c.3732G>T (p.Arg1244=)
c.3354G>T (p.Arg1118=)
n.3745G>T
n.3693G>T
Xg.71398627C>ACA516730535TAF1c.2962C>A (p.Arg988=)
c.591C>A
c.3676C>A (p.Arg1226=)
c.270C>A
c.3613C>A (p.Arg1205=)
c.3736C>A (p.Arg1246=)
c.3673C>A (p.Arg1225=)
c.405C>A
n.3812C>A
c.3733C>A (p.Arg1245=)
c.3355C>A (p.Arg1119=)
n.3746C>A
n.3694C>A
Xg.71398627C=CA2436450092TAF1c.2962C= (p.Arg988=)
c.591C=
c.3676C= (p.Arg1226=)
c.270C=
c.3613C= (p.Arg1205=)
c.3736C= (p.Arg1246=)
c.3673C= (p.Arg1225=)
c.405C=
n.3812C=
c.3733C= (p.Arg1245=)
c.3355C= (p.Arg1119=)
n.3746C=
n.3694C=
Xg.71398627C>GCA413531728TAF1c.2962C>G (p.Arg988Gly)
c.591C>G
c.3676C>G (p.Arg1226Gly)
c.270C>G
c.3613C>G (p.Arg1205Gly)
c.3736C>G (p.Arg1246Gly)
c.3673C>G (p.Arg1225Gly)
c.405C>G
n.3812C>G
c.3733C>G (p.Arg1245Gly)
c.3355C>G (p.Arg1119Gly)
n.3746C>G
n.3694C>G
Xg.71398627C>TCA279920TAF1c.2962C>T (p.Arg988Trp)
c.591C>T
c.3676C>T (p.Arg1226Trp)
c.270C>T
c.3613C>T (p.Arg1205Trp)
c.3736C>T (p.Arg1246Trp)
c.3673C>T (p.Arg1225Trp)
c.405C>T
n.3812C>T
c.3733C>T (p.Arg1245Trp)
c.3355C>T (p.Arg1119Trp)
n.3746C>T
n.3694C>T
 ClinVar dbSNP gnomAD v4
Xg.71398628G>ACA413531736TAF1c.2963G>A (p.Arg988Gln)
c.592G>A
c.3677G>A (p.Arg1226Gln)
c.271G>A
c.3614G>A (p.Arg1205Gln)
c.3737G>A (p.Arg1246Gln)
c.3674G>A (p.Arg1225Gln)
c.406G>A
n.3813G>A
c.3734G>A (p.Arg1245Gln)
c.3356G>A (p.Arg1119Gln)
n.3747G>A
n.3695G>A
 dbSNP COSMIC COSMIC
Xg.71398628G>CCA413531738TAF1c.2963G>C (p.Arg988Pro)
c.592G>C
c.3677G>C (p.Arg1226Pro)
c.271G>C
c.3614G>C (p.Arg1205Pro)
c.3737G>C (p.Arg1246Pro)
c.3674G>C (p.Arg1225Pro)
c.406G>C
n.3813G>C
c.3734G>C (p.Arg1245Pro)
c.3356G>C (p.Arg1119Pro)
n.3747G>C
n.3695G>C
Xg.71398628G>TCA413531740TAF1c.2963G>T (p.Arg988Leu)
c.592G>T
c.3677G>T (p.Arg1226Leu)
c.271G>T
c.3614G>T (p.Arg1205Leu)
c.3737G>T (p.Arg1246Leu)
c.3674G>T (p.Arg1225Leu)
c.406G>T
n.3813G>T
c.3734G>T (p.Arg1245Leu)
c.3356G>T (p.Arg1119Leu)
n.3747G>T
n.3695G>T
Xg.71398629G>ACA516730536TAF1c.2964G>A (p.Arg988=)
c.593G>A
c.3678G>A (p.Arg1226=)
c.272G>A
c.3615G>A (p.Arg1205=)
c.3738G>A (p.Arg1246=)
c.3675G>A (p.Arg1225=)
c.407G>A
n.3814G>A
c.3735G>A (p.Arg1245=)
c.3357G>A (p.Arg1119=)
n.3748G>A
n.3696G>A
Xg.71398629G>CCA516730538TAF1c.2964G>C (p.Arg988=)
c.593G>C
c.3678G>C (p.Arg1226=)
c.272G>C
c.3615G>C (p.Arg1205=)
c.3738G>C (p.Arg1246=)
c.3675G>C (p.Arg1225=)
c.407G>C
n.3814G>C
c.3735G>C (p.Arg1245=)
c.3357G>C (p.Arg1119=)
n.3748G>C
n.3696G>C
Xg.71398629G>TCA516730539TAF1c.2964G>T (p.Arg988=)
c.593G>T
c.3678G>T (p.Arg1226=)
c.272G>T
c.3615G>T (p.Arg1205=)
c.3738G>T (p.Arg1246=)
c.3675G>T (p.Arg1225=)
c.407G>T
n.3814G>T
c.3735G>T (p.Arg1245=)
c.3357G>T (p.Arg1119=)
n.3748G>T
n.3696G>T
Xg.71398630A>CCA516730540TAF1c.2965A>C (p.Arg989=)
c.594A>C
c.3679A>C (p.Arg1227=)
c.273A>C
c.3616A>C (p.Arg1206=)
c.3739A>C (p.Arg1247=)
c.3676A>C (p.Arg1226=)
c.408A>C
n.3815A>C
c.3736A>C (p.Arg1246=)
c.3358A>C (p.Arg1120=)
n.3749A>C
n.3697A>C
Xg.71398630A>GCA413531744TAF1c.2965A>G (p.Arg989Gly)
c.594A>G
c.3679A>G (p.Arg1227Gly)
c.273A>G
c.3616A>G (p.Arg1206Gly)
c.3739A>G (p.Arg1247Gly)
c.3676A>G (p.Arg1226Gly)
c.408A>G
n.3815A>G
c.3736A>G (p.Arg1246Gly)
c.3358A>G (p.Arg1120Gly)
n.3749A>G
n.3697A>G
Xg.71398630A>TCA413531746TAF1c.2965A>T (p.Arg989Trp)
c.594A>T
c.3679A>T (p.Arg1227Trp)
c.273A>T
c.3616A>T (p.Arg1206Trp)
c.3739A>T (p.Arg1247Trp)
c.3676A>T (p.Arg1226Trp)
c.408A>T
n.3815A>T
c.3736A>T (p.Arg1246Trp)
c.3358A>T (p.Arg1120Trp)
n.3749A>T
n.3697A>T
Xg.71398631G>ACA413531749TAF1c.2966G>A (p.Arg989Lys)
c.595G>A
c.3680G>A (p.Arg1227Lys)
c.274G>A
c.3617G>A (p.Arg1206Lys)
c.3740G>A (p.Arg1247Lys)
c.3677G>A (p.Arg1226Lys)
c.409G>A
n.3816G>A
c.3737G>A (p.Arg1246Lys)
c.3359G>A (p.Arg1120Lys)
n.3750G>A
n.3698G>A
Xg.71398631G>CCA413531752TAF1c.2966G>C (p.Arg989Thr)
c.595G>C
c.3680G>C (p.Arg1227Thr)
c.274G>C
c.3617G>C (p.Arg1206Thr)
c.3740G>C (p.Arg1247Thr)
c.3677G>C (p.Arg1226Thr)
c.409G>C
n.3816G>C
c.3737G>C (p.Arg1246Thr)
c.3359G>C (p.Arg1120Thr)
n.3750G>C
n.3698G>C
Xg.71398631G>TCA413531755TAF1c.2966G>T (p.Arg989Met)
c.595G>T
c.3680G>T (p.Arg1227Met)
c.274G>T
c.3617G>T (p.Arg1206Met)
c.3740G>T (p.Arg1247Met)
c.3677G>T (p.Arg1226Met)
c.409G>T
n.3816G>T
c.3737G>T (p.Arg1246Met)
c.3359G>T (p.Arg1120Met)
n.3750G>T
n.3698G>T
Xg.71398632G>ACA516730543TAF1c.2967G>A (p.Arg989=)
c.596G>A
c.3681G>A (p.Arg1227=)
c.275G>A
c.3618G>A (p.Arg1206=)
c.3741G>A (p.Arg1247=)
c.3678G>A (p.Arg1226=)
c.410G>A
n.3817G>A
c.3738G>A (p.Arg1246=)
c.3360G>A (p.Arg1120=)
n.3751G>A
n.3699G>A
 dbSNP
Xg.71398632G>CCA413531758TAF1c.2967G>C (p.Arg989Ser)
c.596G>C
c.3681G>C (p.Arg1227Ser)
c.275G>C
c.3618G>C (p.Arg1206Ser)
c.3741G>C (p.Arg1247Ser)
c.3678G>C (p.Arg1226Ser)
c.410G>C
n.3817G>C
c.3738G>C (p.Arg1246Ser)
c.3360G>C (p.Arg1120Ser)
n.3751G>C
n.3699G>C
Xg.71398632G=CA2436450093TAF1c.2967G= (p.Arg989=)
c.596G=
c.3681G= (p.Arg1227=)
c.275G=
c.3618G= (p.Arg1206=)
c.3741G= (p.Arg1247=)
c.3678G= (p.Arg1226=)
c.410G=
n.3817G=
c.3738G= (p.Arg1246=)
c.3360G= (p.Arg1120=)
n.3751G=
n.3699G=
Xg.71398632G>TCA413531760TAF1c.2967G>T (p.Arg989Ser)
c.596G>T
c.3681G>T (p.Arg1227Ser)
c.275G>T
c.3618G>T (p.Arg1206Ser)
c.3741G>T (p.Arg1247Ser)
c.3678G>T (p.Arg1226Ser)
c.410G>T
n.3817G>T
c.3738G>T (p.Arg1246Ser)
c.3360G>T (p.Arg1120Ser)
n.3751G>T
n.3699G>T
 COSMIC COSMIC
Xg.71398633A>CCA413531765TAF1c.2968A>C (p.Ile990Leu)
c.597A>C
c.3682A>C (p.Ile1228Leu)
c.276A>C
c.3619A>C (p.Ile1207Leu)
c.3742A>C (p.Ile1248Leu)
c.3679A>C (p.Ile1227Leu)
c.411A>C
n.3818A>C
c.3739A>C (p.Ile1247Leu)
c.3361A>C (p.Ile1121Leu)
n.3752A>C
n.3700A>C
Xg.71398633A>GCA413531768TAF1c.2968A>G (p.Ile990Val)
c.597A>G
c.3682A>G (p.Ile1228Val)
c.276A>G
c.3619A>G (p.Ile1207Val)
c.3742A>G (p.Ile1248Val)
c.3679A>G (p.Ile1227Val)
c.411A>G
n.3818A>G
c.3739A>G (p.Ile1247Val)
c.3361A>G (p.Ile1121Val)
n.3752A>G
n.3700A>G
Xg.71398633A>TCA413531771TAF1c.2968A>T (p.Ile990Phe)
c.597A>T
c.3682A>T (p.Ile1228Phe)
c.276A>T
c.3619A>T (p.Ile1207Phe)
c.3742A>T (p.Ile1248Phe)
c.3679A>T (p.Ile1227Phe)
c.411A>T
n.3818A>T
c.3739A>T (p.Ile1247Phe)
c.3361A>T (p.Ile1121Phe)
n.3752A>T
n.3700A>T
Xg.71398634T>ACA413531775TAF1c.2969T>A (p.Ile990Asn)
c.598T>A
c.3683T>A (p.Ile1228Asn)
c.277T>A
c.3620T>A (p.Ile1207Asn)
c.3743T>A (p.Ile1248Asn)
c.3680T>A (p.Ile1227Asn)
c.412T>A
n.3819T>A
c.3740T>A (p.Ile1247Asn)
c.3362T>A (p.Ile1121Asn)
n.3753T>A
n.3701T>A
Xg.71398634T>CCA413531777TAF1c.2969T>C (p.Ile990Thr)
c.598T>C
c.3683T>C (p.Ile1228Thr)
c.277T>C
c.3620T>C (p.Ile1207Thr)
c.3743T>C (p.Ile1248Thr)
c.3680T>C (p.Ile1227Thr)
c.412T>C
n.3819T>C
c.3740T>C (p.Ile1247Thr)
c.3362T>C (p.Ile1121Thr)
n.3753T>C
n.3701T>C
Xg.71398634T>GCA413531780TAF1c.2969T>G (p.Ile990Ser)
c.598T>G
c.3683T>G (p.Ile1228Ser)
c.277T>G
c.3620T>G (p.Ile1207Ser)
c.3743T>G (p.Ile1248Ser)
c.3680T>G (p.Ile1227Ser)
c.412T>G
n.3819T>G
c.3740T>G (p.Ile1247Ser)
c.3362T>G (p.Ile1121Ser)
n.3753T>G
n.3701T>G
Xg.71398635T>ACA516730547TAF1c.2970T>A (p.Ile990=)
c.599T>A
c.3684T>A (p.Ile1228=)
c.278T>A
c.3621T>A (p.Ile1207=)
c.3744T>A (p.Ile1248=)
c.3681T>A (p.Ile1227=)
c.413T>A
n.3820T>A
c.3741T>A (p.Ile1247=)
c.3363T>A (p.Ile1121=)
n.3754T>A
n.3702T>A
Xg.71398635T>CCA516730545TAF1c.2970T>C (p.Ile990=)
c.599T>C
c.3684T>C (p.Ile1228=)
c.278T>C
c.3621T>C (p.Ile1207=)
c.3744T>C (p.Ile1248=)
c.3681T>C (p.Ile1227=)
c.413T>C
n.3820T>C
c.3741T>C (p.Ile1247=)
c.3363T>C (p.Ile1121=)
n.3754T>C
n.3702T>C
Xg.71398635T>GCA413531783TAF1c.2970T>G (p.Ile990Met)
c.599T>G
c.3684T>G (p.Ile1228Met)
c.278T>G
c.3621T>G (p.Ile1207Met)
c.3744T>G (p.Ile1248Met)
c.3681T>G (p.Ile1227Met)
c.413T>G
n.3820T>G
c.3741T>G (p.Ile1247Met)
c.3363T>G (p.Ile1121Met)
n.3754T>G
n.3702T>G
Xg.71398636C>ACA413531786TAF1c.2971C>A (p.Gln991Lys)
c.600C>A
c.3685C>A (p.Gln1229Lys)
c.279C>A
c.3622C>A (p.Gln1208Lys)
c.3745C>A (p.Gln1249Lys)
c.3682C>A (p.Gln1228Lys)
c.414C>A
n.3821C>A
c.3742C>A (p.Gln1248Lys)
c.3364C>A (p.Gln1122Lys)
n.3755C>A
n.3703C>A
Xg.71398636C>GCA413531793TAF1c.2971C>G (p.Gln991Glu)
c.600C>G
c.3685C>G (p.Gln1229Glu)
c.279C>G
c.3622C>G (p.Gln1208Glu)
c.3745C>G (p.Gln1249Glu)
c.3682C>G (p.Gln1228Glu)
c.414C>G
n.3821C>G
c.3742C>G (p.Gln1248Glu)
c.3364C>G (p.Gln1122Glu)
n.3755C>G
n.3703C>G
Xg.71398636C>TCA413531789TAF1c.2971C>T (p.Gln991Ter)
c.600C>T
c.3685C>T (p.Gln1229Ter)
c.279C>T
c.3622C>T (p.Gln1208Ter)
c.3745C>T (p.Gln1249Ter)
c.3682C>T (p.Gln1228Ter)
c.414C>T
n.3821C>T
c.3742C>T (p.Gln1248Ter)
c.3364C>T (p.Gln1122Ter)
n.3755C>T
n.3703C>T
Xg.71398637A>CCA413531796TAF1c.2972A>C (p.Gln991Pro)
c.601A>C
c.3686A>C (p.Gln1229Pro)
c.280A>C
c.3623A>C (p.Gln1208Pro)
c.3746A>C (p.Gln1249Pro)
c.3683A>C (p.Gln1228Pro)
c.415A>C
n.3822A>C
c.3743A>C (p.Gln1248Pro)
c.3365A>C (p.Gln1122Pro)
n.3756A>C
n.3704A>C
Xg.71398637A>GCA413531802TAF1c.2972A>G (p.Gln991Arg)
c.601A>G
c.3686A>G (p.Gln1229Arg)
c.280A>G
c.3623A>G (p.Gln1208Arg)
c.3746A>G (p.Gln1249Arg)
c.3683A>G (p.Gln1228Arg)
c.415A>G
n.3822A>G
c.3743A>G (p.Gln1248Arg)
c.3365A>G (p.Gln1122Arg)
n.3756A>G
n.3704A>G
Xg.71398637A>TCA413531799TAF1c.2972A>T (p.Gln991Leu)
c.601A>T
c.3686A>T (p.Gln1229Leu)
c.280A>T
c.3623A>T (p.Gln1208Leu)
c.3746A>T (p.Gln1249Leu)
c.3683A>T (p.Gln1228Leu)
c.415A>T
n.3822A>T
c.3743A>T (p.Gln1248Leu)
c.3365A>T (p.Gln1122Leu)
n.3756A>T
n.3704A>T
Xg.71398638A=CA2436450094TAF1c.2973A= (p.Gln991=)
c.602A=
c.3687A= (p.Gln1229=)
c.281A=
c.3624A= (p.Gln1208=)
c.3747A= (p.Gln1249=)
c.3684A= (p.Gln1228=)
c.416A=
n.3823A=
c.3744A= (p.Gln1248=)
c.3366A= (p.Gln1122=)
n.3757A=
n.3705A=
Xg.71398638A>CCA413531805TAF1c.2973A>C (p.Gln991His)
c.602A>C
c.3687A>C (p.Gln1229His)
c.281A>C
c.3624A>C (p.Gln1208His)
c.3747A>C (p.Gln1249His)
c.3684A>C (p.Gln1228His)
c.416A>C
n.3823A>C
c.3744A>C (p.Gln1248His)
c.3366A>C (p.Gln1122His)
n.3757A>C
n.3705A>C
Xg.71398638A>GCA10447065TAF1c.2973A>G (p.Gln991=)
c.602A>G
c.3687A>G (p.Gln1229=)
c.281A>G
c.3624A>G (p.Gln1208=)
c.3747A>G (p.Gln1249=)
c.3684A>G (p.Gln1228=)
c.416A>G
n.3823A>G
c.3744A>G (p.Gln1248=)
c.3366A>G (p.Gln1122=)
n.3757A>G
n.3705A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.71398638A>TCA413531810TAF1c.2973A>T (p.Gln991His)
c.602A>T
c.3687A>T (p.Gln1229His)
c.281A>T
c.3624A>T (p.Gln1208His)
c.3747A>T (p.Gln1249His)
c.3684A>T (p.Gln1228His)
c.416A>T
n.3823A>T
c.3744A>T (p.Gln1248His)
c.3366A>T (p.Gln1122His)
n.3757A>T
n.3705A>T
Xg.71398639G>ACA413531813TAF1c.2974G>A (p.Glu992Lys)
c.603G>A
c.3688G>A (p.Glu1230Lys)
c.282G>A
c.3625G>A (p.Glu1209Lys)
c.3748G>A (p.Glu1250Lys)
c.3685G>A (p.Glu1229Lys)
c.417G>A
n.3824G>A
c.3745G>A (p.Glu1249Lys)
c.3367G>A (p.Glu1123Lys)
n.3758G>A
n.3706G>A
Xg.71398639G>CCA413531815TAF1c.2974G>C (p.Glu992Gln)
c.603G>C
c.3688G>C (p.Glu1230Gln)
c.282G>C
c.3625G>C (p.Glu1209Gln)
c.3748G>C (p.Glu1250Gln)
c.3685G>C (p.Glu1229Gln)
c.417G>C
n.3824G>C
c.3745G>C (p.Glu1249Gln)
c.3367G>C (p.Glu1123Gln)
n.3758G>C
n.3706G>C
Xg.71398639G>TCA413531818TAF1c.2974G>T (p.Glu992Ter)
c.603G>T
c.3688G>T (p.Glu1230Ter)
c.282G>T
c.3625G>T (p.Glu1209Ter)
c.3748G>T (p.Glu1250Ter)
c.3685G>T (p.Glu1229Ter)
c.417G>T
n.3824G>T
c.3745G>T (p.Glu1249Ter)
c.3367G>T (p.Glu1123Ter)
n.3758G>T
n.3706G>T
Xg.71398640A>CCA413531821TAF1c.2975A>C (p.Glu992Ala)
c.604A>C
c.3689A>C (p.Glu1230Ala)
c.283A>C
c.3626A>C (p.Glu1209Ala)
c.3749A>C (p.Glu1250Ala)
c.3686A>C (p.Glu1229Ala)
c.418A>C
n.3825A>C
c.3746A>C (p.Glu1249Ala)
c.3368A>C (p.Glu1123Ala)
n.3759A>C
n.3707A>C
Xg.71398640A>GCA413531822TAF1c.2975A>G (p.Glu992Gly)
c.604A>G
c.3689A>G (p.Glu1230Gly)
c.283A>G
c.3626A>G (p.Glu1209Gly)
c.3749A>G (p.Glu1250Gly)
c.3686A>G (p.Glu1229Gly)
c.418A>G
n.3825A>G
c.3746A>G (p.Glu1249Gly)
c.3368A>G (p.Glu1123Gly)
n.3759A>G
n.3707A>G
Xg.71398640A>TCA413531824TAF1c.2975A>T (p.Glu992Val)
c.604A>T
c.3689A>T (p.Glu1230Val)
c.283A>T
c.3626A>T (p.Glu1209Val)
c.3749A>T (p.Glu1250Val)
c.3686A>T (p.Glu1229Val)
c.418A>T
n.3825A>T
c.3746A>T (p.Glu1249Val)
c.3368A>T (p.Glu1123Val)
n.3759A>T
n.3707A>T
Xg.71398641G>ACA516730549TAF1c.2976G>A (p.Glu992=)
c.605G>A
c.3690G>A (p.Glu1230=)
c.284G>A
c.3627G>A (p.Glu1209=)
c.3750G>A (p.Glu1250=)
c.3687G>A (p.Glu1229=)
c.419G>A
n.3826G>A
c.3747G>A (p.Glu1249=)
c.3369G>A (p.Glu1123=)
n.3760G>A
n.3708G>A
 dbSNP gnomAD v4
Xg.71398641G>CCA413531827TAF1c.2976G>C (p.Glu992Asp)
c.605G>C
c.3690G>C (p.Glu1230Asp)
c.284G>C
c.3627G>C (p.Glu1209Asp)
c.3750G>C (p.Glu1250Asp)
c.3687G>C (p.Glu1229Asp)
c.419G>C
n.3826G>C
c.3747G>C (p.Glu1249Asp)
c.3369G>C (p.Glu1123Asp)
n.3760G>C
n.3708G>C
Xg.71398641G>TCA413531830TAF1c.2976G>T (p.Glu992Asp)
c.605G>T
c.3690G>T (p.Glu1230Asp)
c.284G>T
c.3627G>T (p.Glu1209Asp)
c.3750G>T (p.Glu1250Asp)
c.3687G>T (p.Glu1229Asp)
c.419G>T
n.3826G>T
c.3747G>T (p.Glu1249Asp)
c.3369G>T (p.Glu1123Asp)
n.3760G>T
n.3708G>T
Xg.71398642C>ACA413531838TAF1c.2977C>A (p.Gln993Lys)
c.606C>A
c.3691C>A (p.Gln1231Lys)
c.285C>A
c.3628C>A (p.Gln1210Lys)
c.3751C>A (p.Gln1251Lys)
c.3688C>A (p.Gln1230Lys)
c.420C>A
n.3827C>A
c.3748C>A (p.Gln1250Lys)
c.3370C>A (p.Gln1124Lys)
n.3761C>A
n.3709C>A
Xg.71398642C>GCA413531835TAF1c.2977C>G (p.Gln993Glu)
c.606C>G
c.3691C>G (p.Gln1231Glu)
c.285C>G
c.3628C>G (p.Gln1210Glu)
c.3751C>G (p.Gln1251Glu)
c.3688C>G (p.Gln1230Glu)
c.420C>G
n.3827C>G
c.3748C>G (p.Gln1250Glu)
c.3370C>G (p.Gln1124Glu)
n.3761C>G
n.3709C>G
Xg.71398642C>TCA413531832TAF1c.2977C>T (p.Gln993Ter)
c.606C>T
c.3691C>T (p.Gln1231Ter)
c.285C>T
c.3628C>T (p.Gln1210Ter)
c.3751C>T (p.Gln1251Ter)
c.3688C>T (p.Gln1230Ter)
c.420C>T
n.3827C>T
c.3748C>T (p.Gln1250Ter)
c.3370C>T (p.Gln1124Ter)
n.3761C>T
n.3709C>T
Xg.71398643A>CCA413531841TAF1c.2978A>C (p.Gln993Pro)
c.607A>C
c.3692A>C (p.Gln1231Pro)
c.286A>C
c.3629A>C (p.Gln1210Pro)
c.3752A>C (p.Gln1251Pro)
c.3689A>C (p.Gln1230Pro)
c.421A>C
n.3828A>C
c.3749A>C (p.Gln1250Pro)
c.3371A>C (p.Gln1124Pro)
n.3762A>C
n.3710A>C
Xg.71398643A>GCA413531844TAF1c.2978A>G (p.Gln993Arg)
c.607A>G
c.3692A>G (p.Gln1231Arg)
c.286A>G
c.3629A>G (p.Gln1210Arg)
c.3752A>G (p.Gln1251Arg)
c.3689A>G (p.Gln1230Arg)
c.421A>G
n.3828A>G
c.3749A>G (p.Gln1250Arg)
c.3371A>G (p.Gln1124Arg)
n.3762A>G
n.3710A>G
Xg.71398643A>TCA413531848TAF1c.2978A>T (p.Gln993Leu)
c.607A>T
c.3692A>T (p.Gln1231Leu)
c.286A>T
c.3629A>T (p.Gln1210Leu)
c.3752A>T (p.Gln1251Leu)
c.3689A>T (p.Gln1230Leu)
c.421A>T
n.3828A>T
c.3749A>T (p.Gln1250Leu)
c.3371A>T (p.Gln1124Leu)
n.3762A>T
n.3710A>T
Xg.71398644A>CCA413531851TAF1c.2979A>C (p.Gln993His)
c.608A>C
c.3693A>C (p.Gln1231His)
c.287A>C
c.3630A>C (p.Gln1210His)
c.3753A>C (p.Gln1251His)
c.3690A>C (p.Gln1230His)
c.422A>C
n.3829A>C
c.3750A>C (p.Gln1250His)
c.3372A>C (p.Gln1124His)
n.3763A>C
n.3711A>C
Xg.71398644A>GCA516730551TAF1c.2979A>G (p.Gln993=)
c.608A>G
c.3693A>G (p.Gln1231=)
c.287A>G
c.3630A>G (p.Gln1210=)
c.3753A>G (p.Gln1251=)
c.3690A>G (p.Gln1230=)
c.422A>G
n.3829A>G
c.3750A>G (p.Gln1250=)
c.3372A>G (p.Gln1124=)
n.3763A>G
n.3711A>G
 gnomAD v4
Xg.71398644A>TCA413531853TAF1c.2979A>T (p.Gln993His)
c.608A>T
c.3693A>T (p.Gln1231His)
c.287A>T
c.3630A>T (p.Gln1210His)
c.3753A>T (p.Gln1251His)
c.3690A>T (p.Gln1230His)
c.422A>T
n.3829A>T
c.3750A>T (p.Gln1250His)
c.3372A>T (p.Gln1124His)
n.3763A>T
n.3711A>T
Xg.71398645C>ACA413531856TAF1c.2980C>A (p.Leu994Met)
c.609C>A
c.3694C>A (p.Leu1232Met)
c.288C>A
c.3631C>A (p.Leu1211Met)
c.3754C>A (p.Leu1252Met)
c.3691C>A (p.Leu1231Met)
c.423C>A
n.3830C>A
c.3751C>A (p.Leu1251Met)
c.3373C>A (p.Leu1125Met)
n.3764C>A
n.3712C>A
Xg.71398645C=CA2436450095TAF1c.2980C= (p.Leu994=)
c.609C=
c.3694C= (p.Leu1232=)
c.288C=
c.3631C= (p.Leu1211=)
c.3754C= (p.Leu1252=)
c.3691C= (p.Leu1231=)
c.423C=
n.3830C=
c.3751C= (p.Leu1251=)
c.3373C= (p.Leu1125=)
n.3764C=
n.3712C=
Xg.71398645C>GCA413531859TAF1c.2980C>G (p.Leu994Val)
c.609C>G
c.3694C>G (p.Leu1232Val)
c.288C>G
c.3631C>G (p.Leu1211Val)
c.3754C>G (p.Leu1252Val)
c.3691C>G (p.Leu1231Val)
c.423C>G
n.3830C>G
c.3751C>G (p.Leu1251Val)
c.3373C>G (p.Leu1125Val)
n.3764C>G
n.3712C>G
Xg.71398645C>TCA516730552TAF1c.2980C>T (p.Leu994=)
c.609C>T
c.3694C>T (p.Leu1232=)
c.288C>T
c.3631C>T (p.Leu1211=)
c.3754C>T (p.Leu1252=)
c.3691C>T (p.Leu1231=)
c.423C>T
n.3830C>T
c.3751C>T (p.Leu1251=)
c.3373C>T (p.Leu1125=)
n.3764C>T
n.3712C>T
 dbSNP gnomAD v2
Xg.71398646T>ACA413531862TAF1c.2981T>A (p.Leu994Gln)
c.610T>A
c.3695T>A (p.Leu1232Gln)
c.289T>A
c.3632T>A (p.Leu1211Gln)
c.3755T>A (p.Leu1252Gln)
c.3692T>A (p.Leu1231Gln)
c.424T>A
n.3831T>A
c.3752T>A (p.Leu1251Gln)
c.3374T>A (p.Leu1125Gln)
n.3765T>A
n.3713T>A
Xg.71398646T>CCA413531866TAF1c.2981T>C (p.Leu994Pro)
c.610T>C
c.3695T>C (p.Leu1232Pro)
c.289T>C
c.3632T>C (p.Leu1211Pro)
c.3755T>C (p.Leu1252Pro)
c.3692T>C (p.Leu1231Pro)
c.424T>C
n.3831T>C
c.3752T>C (p.Leu1251Pro)
c.3374T>C (p.Leu1125Pro)
n.3765T>C
n.3713T>C
Xg.71398646T>GCA413531868TAF1c.2981T>G (p.Leu994Arg)
c.610T>G
c.3695T>G (p.Leu1232Arg)
c.289T>G
c.3632T>G (p.Leu1211Arg)
c.3755T>G (p.Leu1252Arg)
c.3692T>G (p.Leu1231Arg)
c.424T>G
n.3831T>G
c.3752T>G (p.Leu1251Arg)
c.3374T>G (p.Leu1125Arg)
n.3765T>G
n.3713T>G
Xg.71398647G>ACA516730554TAF1c.2982G>A (p.Leu994=)
c.611G>A
c.3696G>A (p.Leu1232=)
c.290G>A
c.3633G>A (p.Leu1211=)
c.3756G>A (p.Leu1252=)
c.3693G>A (p.Leu1231=)
c.425G>A
n.3832G>A
c.3753G>A (p.Leu1251=)
c.3375G>A (p.Leu1125=)
n.3766G>A
n.3714G>A
 gnomAD v4
Xg.71398647G>CCA516730556TAF1c.2982G>C (p.Leu994=)
c.611G>C
c.3696G>C (p.Leu1232=)
c.290G>C
c.3633G>C (p.Leu1211=)
c.3756G>C (p.Leu1252=)
c.3693G>C (p.Leu1231=)
c.425G>C
n.3832G>C
c.3753G>C (p.Leu1251=)
c.3375G>C (p.Leu1125=)
n.3766G>C
n.3714G>C
Xg.71398647G>TCA516730558TAF1c.2982G>T (p.Leu994=)
c.611G>T
c.3696G>T (p.Leu1232=)
c.290G>T
c.3633G>T (p.Leu1211=)
c.3756G>T (p.Leu1252=)
c.3693G>T (p.Leu1231=)
c.425G>T
n.3832G>T
c.3753G>T (p.Leu1251=)
c.3375G>T (p.Leu1125=)
n.3766G>T
n.3714G>T
Xg.71398648A>CCA516730559TAF1c.2983A>C (p.Arg995=)
c.612A>C
c.3697A>C (p.Arg1233=)
c.291A>C
c.3634A>C (p.Arg1212=)
c.3757A>C (p.Arg1253=)
c.3694A>C (p.Arg1232=)
c.426A>C
n.3833A>C
c.3754A>C (p.Arg1252=)
c.3376A>C (p.Arg1126=)
n.3767A>C
n.3715A>C
Xg.71398648A>GCA413531871TAF1c.2983A>G (p.Arg995Gly)
c.612A>G
c.3697A>G (p.Arg1233Gly)
c.291A>G
c.3634A>G (p.Arg1212Gly)
c.3757A>G (p.Arg1253Gly)
c.3694A>G (p.Arg1232Gly)
c.426A>G
n.3833A>G
c.3754A>G (p.Arg1252Gly)
c.3376A>G (p.Arg1126Gly)
n.3767A>G
n.3715A>G
 COSMIC COSMIC
Xg.71398648A>TCA413531873TAF1c.2983A>T (p.Arg995Trp)
c.612A>T
c.3697A>T (p.Arg1233Trp)
c.291A>T
c.3634A>T (p.Arg1212Trp)
c.3757A>T (p.Arg1253Trp)
c.3694A>T (p.Arg1232Trp)
c.426A>T
n.3833A>T
c.3754A>T (p.Arg1252Trp)
c.3376A>T (p.Arg1126Trp)
n.3767A>T
n.3715A>T
 dbSNP
Xg.71398649G>ACA413531882TAF1c.2984G>A (p.Arg995Lys)
c.613G>A
c.3698G>A (p.Arg1233Lys)
c.292G>A
c.3635G>A (p.Arg1212Lys)
c.3758G>A (p.Arg1253Lys)
c.3695G>A (p.Arg1232Lys)
c.427G>A
n.3834G>A
c.3755G>A (p.Arg1252Lys)
c.3377G>A (p.Arg1126Lys)
n.3768G>A
n.3716G>A
Xg.71398649G>CCA413531880TAF1c.2984G>C (p.Arg995Thr)
c.613G>C
c.3698G>C (p.Arg1233Thr)
c.292G>C
c.3635G>C (p.Arg1212Thr)
c.3758G>C (p.Arg1253Thr)
c.3695G>C (p.Arg1232Thr)
c.427G>C
n.3834G>C
c.3755G>C (p.Arg1252Thr)
c.3377G>C (p.Arg1126Thr)
n.3768G>C
n.3716G>C
Xg.71398649G>TCA413531877TAF1c.2984G>T (p.Arg995Met)
c.613G>T
c.3698G>T (p.Arg1233Met)
c.292G>T
c.3635G>T (p.Arg1212Met)
c.3758G>T (p.Arg1253Met)
c.3695G>T (p.Arg1232Met)
c.427G>T
n.3834G>T
c.3755G>T (p.Arg1252Met)
c.3377G>T (p.Arg1126Met)
n.3768G>T
n.3716G>T
Xg.71398650G>ACA516730560TAF1c.2985G>A (p.Arg995=)
c.614G>A
c.3699G>A (p.Arg1233=)
c.293G>A
c.3636G>A (p.Arg1212=)
c.3759G>A (p.Arg1253=)
c.3696G>A (p.Arg1232=)
c.428G>A
n.3835G>A
c.3756G>A (p.Arg1252=)
c.3378G>A (p.Arg1126=)
n.3769G>A
n.3717G>A
Xg.71398650G>CCA413531886TAF1c.2985G>C (p.Arg995Ser)
c.614G>C
c.3699G>C (p.Arg1233Ser)
c.293G>C
c.3636G>C (p.Arg1212Ser)
c.3759G>C (p.Arg1253Ser)
c.3696G>C (p.Arg1232Ser)
c.428G>C
n.3835G>C
c.3756G>C (p.Arg1252Ser)
c.3378G>C (p.Arg1126Ser)
n.3769G>C
n.3717G>C
Xg.71398650G>TCA413531887TAF1c.2985G>T (p.Arg995Ser)
c.614G>T
c.3699G>T (p.Arg1233Ser)
c.293G>T
c.3636G>T (p.Arg1212Ser)
c.3759G>T (p.Arg1253Ser)
c.3696G>T (p.Arg1232Ser)
c.428G>T
n.3835G>T
c.3756G>T (p.Arg1252Ser)
c.3378G>T (p.Arg1126Ser)
n.3769G>T
n.3717G>T
Xg.71398651C>ACA516730561TAF1c.2986C>A (p.Arg996=)
c.615C>A
c.3700C>A (p.Arg1234=)
c.294C>A
c.3637C>A (p.Arg1213=)
c.3760C>A (p.Arg1254=)
c.3697C>A (p.Arg1233=)
c.429C>A
n.3836C>A
c.3757C>A (p.Arg1253=)
c.3379C>A (p.Arg1127=)
n.3770C>A
n.3718C>A
Xg.71398651C=CA2436450096TAF1c.2986C= (p.Arg996=)
c.615C=
c.3700C= (p.Arg1234=)
c.294C=
c.3637C= (p.Arg1213=)
c.3760C= (p.Arg1254=)
c.3697C= (p.Arg1233=)
c.429C=
n.3836C=
c.3757C= (p.Arg1253=)
c.3379C= (p.Arg1127=)
n.3770C=
n.3718C=
Xg.71398651C>GCA413531892TAF1c.2986C>G (p.Arg996Gly)
c.615C>G
c.3700C>G (p.Arg1234Gly)
c.294C>G
c.3637C>G (p.Arg1213Gly)
c.3760C>G (p.Arg1254Gly)
c.3697C>G (p.Arg1233Gly)
c.429C>G
n.3836C>G
c.3757C>G (p.Arg1253Gly)
c.3379C>G (p.Arg1127Gly)
n.3770C>G
n.3718C>G
Xg.71398651C>TCA413531895TAF1c.2986C>T (p.Arg996Trp)
c.615C>T
c.3700C>T (p.Arg1234Trp)
c.294C>T
c.3637C>T (p.Arg1213Trp)
c.3760C>T (p.Arg1254Trp)
c.3697C>T (p.Arg1233Trp)
c.429C>T
n.3836C>T
c.3757C>T (p.Arg1253Trp)
c.3379C>T (p.Arg1127Trp)
n.3770C>T
n.3718C>T
 ClinVar dbSNP
Xg.71398652G>ACA413531898TAF1c.2987G>A (p.Arg996Gln)
c.616G>A
c.3701G>A (p.Arg1234Gln)
c.295G>A
c.3638G>A (p.Arg1213Gln)
c.3761G>A (p.Arg1254Gln)
c.3698G>A (p.Arg1233Gln)
c.430G>A
n.3837G>A
c.3758G>A (p.Arg1253Gln)
c.3380G>A (p.Arg1127Gln)
n.3771G>A
n.3719G>A
 ClinVar COSMIC COSMIC
Xg.71398652G>CCA413531899TAF1c.2987G>C (p.Arg996Pro)
c.616G>C
c.3701G>C (p.Arg1234Pro)
c.295G>C
c.3638G>C (p.Arg1213Pro)
c.3761G>C (p.Arg1254Pro)
c.3698G>C (p.Arg1233Pro)
c.430G>C
n.3837G>C
c.3758G>C (p.Arg1253Pro)
c.3380G>C (p.Arg1127Pro)
n.3771G>C
n.3719G>C
Xg.71398652G>TCA413531902TAF1c.2987G>T (p.Arg996Leu)
c.616G>T
c.3701G>T (p.Arg1234Leu)
c.295G>T
c.3638G>T (p.Arg1213Leu)
c.3761G>T (p.Arg1254Leu)
c.3698G>T (p.Arg1233Leu)
c.430G>T
n.3837G>T
c.3758G>T (p.Arg1253Leu)
c.3380G>T (p.Arg1127Leu)
n.3771G>T
n.3719G>T

Number of alleles fetched