Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132906686A=CA1820999493TGc.3635-2A= (n.3635-2A=)
c.466-2A=
c.290-2A=
c.3374-2A= (n.3374-2A=)
8g.132906686A>CCA372242913TGc.3635-2A>C (n.3635-2A>C)
c.466-2A>C
c.290-2A>C
c.3374-2A>C (n.3374-2A>C)
 gnomAD v4
8g.132906686A>GCA372242915TGc.3635-2A>G (n.3635-2A>G)
c.466-2A>G
c.290-2A>G
c.3374-2A>G (n.3374-2A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132906686A>TCA372242914TGc.3635-2A>T (n.3635-2A>T)
c.466-2A>T
c.290-2A>T
c.3374-2A>T (n.3374-2A>T)
8g.132906687G>ACA372242916TGc.3635-1G>A (n.3635-1G>A)
c.466-1G>A
c.290-1G>A
c.3374-1G>A (n.3374-1G>A)
8g.132906687G>CCA372242917TGc.3635-1G>C (n.3635-1G>C)
c.466-1G>C
c.290-1G>C
c.3374-1G>C (n.3374-1G>C)
8g.132906687G>TCA372242918TGc.3635-1G>T (n.3635-1G>T)
c.466-1G>T
c.290-1G>T
c.3374-1G>T (n.3374-1G>T)
8g.132906688G>ACA372242919TGc.3635G>A (p.Ser1212Asn)
c.466G>A
c.290G>A
c.3374G>A (p.Ser1125Asn)
8g.132906688G>CCA372242920TGc.3635G>C (p.Ser1212Thr)
c.466G>C
c.290G>C
c.3374G>C (p.Ser1125Thr)
8g.132906688G>TCA372242921TGc.3635G>T (p.Ser1212Ile)
c.466G>T
c.290G>T
c.3374G>T (p.Ser1125Ile)
8g.132906689C>ACA186299504TGc.3636C>A (p.Ser1212Arg)
c.467C>A
c.291C>A
c.3375C>A (p.Ser1125Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.132906689C=CA1820999494TGc.3636C= (p.Ser1212=)
c.467C=
c.291C=
c.3375C= (p.Ser1125=)
8g.132906689C>GCA372242922TGc.3636C>G (p.Ser1212Arg)
c.467C>G
c.291C>G
c.3375C>G (p.Ser1125Arg)
8g.132906689C>TCA463010744TGc.3636C>T (p.Ser1212=)
c.467C>T
c.291C>T
c.3375C>T (p.Ser1125=)
8g.132906690C>ACA372242923TGc.3637C>A (p.Pro1213Thr)
c.468C>A
c.292C>A
c.3376C>A (p.Pro1126Thr)
8g.132906690C>GCA372242924TGc.3637C>G (p.Pro1213Ala)
c.468C>G
c.292C>G
c.3376C>G (p.Pro1126Ala)
8g.132906690C>TCA372242925TGc.3637C>T (p.Pro1213Ser)
c.468C>T
c.292C>T
c.3376C>T (p.Pro1126Ser)
 COSMIC
8g.132906691C>ACA372242926TGc.3638C>A (p.Pro1213Gln)
c.469C>A
c.293C>A
c.3377C>A (p.Pro1126Gln)
 ClinVar dbSNP
8g.132906691C=CA1820999495TGc.3638C= (p.Pro1213=)
c.469C=
c.293C=
c.3377C= (p.Pro1126=)
8g.132906691C>GCA372242927TGc.3638C>G (p.Pro1213Arg)
c.469C>G
c.293C>G
c.3377C>G (p.Pro1126Arg)
8g.132906691C>TCA4883831TGc.3638C>T (p.Pro1213Leu)
c.469C>T
c.293C>T
c.3377C>T (p.Pro1126Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906692G>ACA4883833TGc.3639G>A (p.Pro1213=)
c.470G>A
c.294G>A
c.3378G>A (p.Pro1126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906692G>CCA4883832TGc.3639G>C (p.Pro1213=)
c.470G>C
c.294G>C
c.3378G>C (p.Pro1126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906692G=CA1820999496TGc.3639G= (p.Pro1213=)
c.470G=
c.294G=
c.3378G= (p.Pro1126=)
8g.132906692G>TCA463010745TGc.3639G>T (p.Pro1213=)
c.470G>T
c.294G>T
c.3378G>T (p.Pro1126=)
8g.132906693C>ACA463010747TGc.3640C>A (p.Arg1214=)
c.471C>A
c.295C>A
c.3379C>A (p.Arg1127=)
8g.132906693C=CA1820999497TGc.3640C= (p.Arg1214=)
c.471C=
c.295C=
c.3379C= (p.Arg1127=)
8g.132906693C>GCA372242928TGc.3640C>G (p.Arg1214Gly)
c.471C>G
c.295C>G
c.3379C>G (p.Arg1127Gly)
8g.132906693C>TCA4883834TGc.3640C>T (p.Arg1214Trp)
c.471C>T
c.295C>T
c.3379C>T (p.Arg1127Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132906694G>ACA4883835TGc.3641G>A (p.Arg1214Gln)
c.472G>A
c.296G>A
c.3380G>A (p.Arg1127Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132906694G>CCA372242929TGc.3641G>C (p.Arg1214Pro)
c.472G>C
c.296G>C
c.3380G>C (p.Arg1127Pro)
8g.132906694G=CA1820999498TGc.3641G= (p.Arg1214=)
c.472G=
c.296G=
c.3380G= (p.Arg1127=)
8g.132906694G>TCA372242930TGc.3641G>T (p.Arg1214Leu)
c.472G>T
c.296G>T
c.3380G>T (p.Arg1127Leu)
 COSMIC
8g.132906695G>ACA463010750TGc.3642G>A (p.Arg1214=)
c.473G>A
c.297G>A
c.3381G>A (p.Arg1127=)
8g.132906695G>CCA463010751TGc.3642G>C (p.Arg1214=)
c.473G>C
c.297G>C
c.3381G>C (p.Arg1127=)
8g.132906695G=CA1820999499TGc.3642G= (p.Arg1214=)
c.473G=
c.297G=
c.3381G= (p.Arg1127=)
8g.132906695G>TCA463010753TGc.3642G>T (p.Arg1214=)
c.473G>T
c.297G>T
c.3381G>T (p.Arg1127=)
 dbSNP gnomAD v4
8g.132906696T>ACA372242931TGc.3643T>A (p.Cys1215Ser)
c.474T>A
c.298T>A
c.3382T>A (p.Cys1128Ser)
8g.132906696T>CCA372242933TGc.3643T>C (p.Cys1215Arg)
c.474T>C
c.298T>C
c.3382T>C (p.Cys1128Arg)
8g.132906696T>GCA372242932TGc.3643T>G (p.Cys1215Gly)
c.474T>G
c.298T>G
c.3382T>G (p.Cys1128Gly)
8g.132906697G>ACA372242934TGc.3644G>A (p.Cys1215Tyr)
c.475G>A
c.299G>A
c.3383G>A (p.Cys1128Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.132906697G>CCA372242935TGc.3644G>C (p.Cys1215Ser)
c.475G>C
c.299G>C
c.3383G>C (p.Cys1128Ser)
8g.132906697G=CA1820999500TGc.3644G= (p.Cys1215=)
c.475G=
c.299G=
c.3383G= (p.Cys1128=)
8g.132906697G>TCA372242936TGc.3644G>T (p.Cys1215Phe)
c.475G>T
c.299G>T
c.3383G>T (p.Cys1128Phe)
 COSMIC
8g.132906698T>ACA372242937TGc.3645T>A (p.Cys1215Ter)
c.476T>A
c.300T>A
c.3384T>A (p.Cys1128Ter)
8g.132906698T>CCA463010756TGc.3645T>C (p.Cys1215=)
c.476T>C
c.300T>C
c.3384T>C (p.Cys1128=)
 dbSNP gnomAD v4
8g.132906698T>GCA372242938TGc.3645T>G (p.Cys1215Trp)
c.476T>G
c.300T>G
c.3384T>G (p.Cys1128Trp)
8g.132906698T=CA1820999502TGc.3645T= (p.Cys1215=)
c.476T=
c.300T=
c.3384T= (p.Cys1128=)
8g.132906698_132906699delinsTCCA1820999501TGc.3645_3646delinsTC (p.Cys1215=)
c.476_477delinsTC
c.300_301delinsTC
c.3384_3385delinsTC (p.Cys1128=)
8g.132906699C>ACA372242939TGc.3646C>A (p.Pro1216Thr)
c.477C>A
c.301C>A
c.3385C>A (p.Pro1129Thr)
8g.132906699C>GCA372242941TGc.3646C>G (p.Pro1216Ala)
c.477C>G
c.301C>G
c.3385C>G (p.Pro1129Ala)
8g.132906699C>TCA372242940TGc.3646C>T (p.Pro1216Ser)
c.477C>T
c.301C>T
c.3385C>T (p.Pro1129Ser)
8g.132906700delCA918371538TGc.3647del (p.Pro1216ArgfsTer?)
c.478del
c.302del
c.3386del (p.Pro1129ArgfsTer?)
 dbSNP gnomAD v4
8g.132906700C>ACA4883837TGc.3647C>A (p.Pro1216Gln)
c.478C>A
c.302C>A
c.3386C>A (p.Pro1129Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906700C=CA1820999503TGc.3647C= (p.Pro1216=)
c.478C=
c.302C=
c.3386C= (p.Pro1129=)
8g.132906700C>GCA372242942TGc.3647C>G (p.Pro1216Arg)
c.478C>G
c.302C>G
c.3386C>G (p.Pro1129Arg)
8g.132906700C>TCA4883836TGc.3647C>T (p.Pro1216Leu)
c.478C>T
c.302C>T
c.3386C>T (p.Pro1129Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906701G>ACA4883838TGc.3648G>A (p.Pro1216=)
c.479G>A
c.303G>A
c.3387G>A (p.Pro1129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906701G>CCA463010759TGc.3648G>C (p.Pro1216=)
c.479G>C
c.303G>C
c.3387G>C (p.Pro1129=)
8g.132906701G=CA1820999504TGc.3648G= (p.Pro1216=)
c.479G=
c.303G=
c.3387G= (p.Pro1129=)
8g.132906701G>TCA463010761TGc.3648G>T (p.Pro1216=)
c.479G>T
c.303G>T
c.3387G>T (p.Pro1129=)
 gnomAD v4
8g.132906702C>ACA372242943TGc.3649C>A (p.Leu1217Met)
c.480C>A
c.304C>A
c.3388C>A (p.Leu1130Met)
8g.132906702C>GCA372242944TGc.3649C>G (p.Leu1217Val)
c.480C>G
c.304C>G
c.3388C>G (p.Leu1130Val)
8g.132906702C>TCA463010762TGc.3649C>T (p.Leu1217=)
c.480C>T
c.304C>T
c.3388C>T (p.Leu1130=)
 gnomAD v4
8g.132906703T>ACA372242945TGc.3650T>A (p.Leu1217Gln)
c.481T>A
c.305T>A
c.3389T>A (p.Leu1130Gln)
8g.132906703T>CCA372242946TGc.3650T>C (p.Leu1217Pro)
c.481T>C
c.305T>C
c.3389T>C (p.Leu1130Pro)
8g.132906703T>GCA372242947TGc.3650T>G (p.Leu1217Arg)
c.481T>G
c.305T>G
c.3389T>G (p.Leu1130Arg)
8g.132906704G>ACA463010763TGc.3651G>A (p.Leu1217=)
c.482G>A
c.306G>A
c.3390G>A (p.Leu1130=)
8g.132906704G>CCA463010767TGc.3651G>C (p.Leu1217=)
c.482G>C
c.306G>C
c.3390G>C (p.Leu1130=)
8g.132906704G>TCA463010765TGc.3651G>T (p.Leu1217=)
c.482G>T
c.306G>T
c.3390G>T (p.Leu1130=)
8g.132906705C>ACA4883839TGc.3652C>A (p.Pro1218Thr)
c.483C>A
c.307C>A
c.3391C>A (p.Pro1131Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906705C=CA1820999505TGc.3652C= (p.Pro1218=)
c.483C=
c.307C=
c.3391C= (p.Pro1131=)
8g.132906705C>GCA372242948TGc.3652C>G (p.Pro1218Ala)
c.483C>G
c.307C>G
c.3391C>G (p.Pro1131Ala)
8g.132906705C>TCA372242949TGc.3652C>T (p.Pro1218Ser)
c.483C>T
c.307C>T
c.3391C>T (p.Pro1131Ser)
8g.132906705_132906706delinsATCA2573052972TGc.3652_3653delinsAT (p.Pro1218Ile)
c.483_484delinsAT
c.307_308delinsAT
c.3391_3392delinsAT (p.Pro1131Ile)
 ClinVar dbSNP
8g.132906706C>ACA372242950TGc.3653C>A (p.Pro1218Gln)
c.484C>A
c.308C>A
c.3392C>A (p.Pro1131Gln)
8g.132906706C=CA1820999506TGc.3653C= (p.Pro1218=)
c.484C=
c.308C=
c.3392C= (p.Pro1131=)
8g.132906706C>GCA372242951TGc.3653C>G (p.Pro1218Arg)
c.484C>G
c.308C>G
c.3392C>G (p.Pro1131Arg)
8g.132906706C>TCA4883840TGc.3653C>T (p.Pro1218Leu)
c.484C>T
c.308C>T
c.3392C>T (p.Pro1131Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906707A=CA1820999507TGc.3654A= (p.Pro1218=)
c.485A=
c.309A=
c.3393A= (p.Pro1131=)
8g.132906707A>CCA463010771TGc.3654A>C (p.Pro1218=)
c.485A>C
c.309A>C
c.3393A>C (p.Pro1131=)
8g.132906707A>GCA463010773TGc.3654A>G (p.Pro1218=)
c.485A>G
c.309A>G
c.3393A>G (p.Pro1131=)
8g.132906707A>TCA186299570TGc.3654A>T (p.Pro1218=)
c.485A>T
c.309A>T
c.3393A>T (p.Pro1131=)
 dbSNP gnomAD v4
8g.132906708T>ACA372242952TGc.3655T>A (p.Phe1219Ile)
c.486T>A
c.310T>A
c.3394T>A (p.Phe1132Ile)
8g.132906708T>CCA372242953TGc.3655T>C (p.Phe1219Leu)
c.486T>C
c.310T>C
c.3394T>C (p.Phe1132Leu)
8g.132906708T>GCA372242954TGc.3655T>G (p.Phe1219Val)
c.486T>G
c.310T>G
c.3394T>G (p.Phe1132Val)
8g.132906709T>ACA372242955TGc.3656T>A (p.Phe1219Tyr)
c.487T>A
c.311T>A
c.3395T>A (p.Phe1132Tyr)
8g.132906709T>CCA372242956TGc.3656T>C (p.Phe1219Ser)
c.487T>C
c.311T>C
c.3395T>C (p.Phe1132Ser)
8g.132906709T>GCA372242957TGc.3656T>G (p.Phe1219Cys)
c.487T>G
c.311T>G
c.3395T>G (p.Phe1132Cys)
8g.132906710C>ACA372242958TGc.3657C>A (p.Phe1219Leu)
c.488C>A
c.312C>A
c.3396C>A (p.Phe1132Leu)
8g.132906710C>GCA372242959TGc.3657C>G (p.Phe1219Leu)
c.488C>G
c.312C>G
c.3396C>G (p.Phe1132Leu)
8g.132906710C>TCA463010775TGc.3657C>T (p.Phe1219=)
c.488C>T
c.312C>T
c.3396C>T (p.Phe1132=)
8g.132906711A>CCA372242960TGc.3658A>C (p.Asn1220His)
c.489A>C
c.313A>C
c.3397A>C (p.Asn1133His)
8g.132906711A>GCA372242961TGc.3658A>G (p.Asn1220Asp)
c.489A>G
c.313A>G
c.3397A>G (p.Asn1133Asp)
8g.132906711A>TCA372242962TGc.3658A>T (p.Asn1220Tyr)
c.489A>T
c.313A>T
c.3397A>T (p.Asn1133Tyr)
8g.132906711_132906714dupCA2688648063TGc.3658_3661dup (p.Ala1221GlufsTer13)
c.489_492dup
c.313_316dup
c.3397_3400dup (p.Ala1134GlufsTer13)
 gnomAD v4
8g.132906712A=CA1820999508TGc.3659A= (p.Asn1220=)
c.490A=
c.314A=
c.3398A= (p.Asn1133=)
8g.132906712A>CCA372242964TGc.3659A>C (p.Asn1220Thr)
c.490A>C
c.314A>C
c.3398A>C (p.Asn1133Thr)
8g.132906712A>GCA372242965TGc.3659A>G (p.Asn1220Ser)
c.490A>G
c.314A>G
c.3398A>G (p.Asn1133Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.132906712A>TCA372242963TGc.3659A>T (p.Asn1220Ile)
c.490A>T
c.314A>T
c.3398A>T (p.Asn1133Ile)
8g.132906713C>ACA4883842TGc.3660C>A (p.Asn1220Lys)
c.491C>A
c.315C>A
c.3399C>A (p.Asn1133Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906713C=CA1820999509TGc.3660C= (p.Asn1220=)
c.491C=
c.315C=
c.3399C= (p.Asn1133=)
8g.132906713C>GCA372242966TGc.3660C>G (p.Asn1220Lys)
c.491C>G
c.315C>G
c.3399C>G (p.Asn1133Lys)
8g.132906713C>TCA4883841TGc.3660C>T (p.Asn1220=)
c.491C>T
c.315C>T
c.3399C>T (p.Asn1133=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.132906714G>ACA4883843TGc.3661G>A (p.Ala1221Thr)
c.492G>A
c.316G>A
c.3400G>A (p.Ala1134Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906714G>CCA372242967TGc.3661G>C (p.Ala1221Pro)
c.492G>C
c.316G>C
c.3400G>C (p.Ala1134Pro)
8g.132906714G=CA1820999510TGc.3661G= (p.Ala1221=)
c.492G=
c.316G=
c.3400G= (p.Ala1134=)
8g.132906714G>TCA372242968TGc.3661G>T (p.Ala1221Ser)
c.492G>T
c.316G>T
c.3400G>T (p.Ala1134Ser)
8g.132906715C>ACA372242969TGc.3662C>A (p.Ala1221Glu)
c.493C>A
c.317C>A
c.3401C>A (p.Ala1134Glu)
8g.132906715C=CA1820999511TGc.3662C= (p.Ala1221=)
c.493C=
c.317C=
c.3401C= (p.Ala1134=)
8g.132906715C>GCA372242970TGc.3662C>G (p.Ala1221Gly)
c.493C>G
c.317C>G
c.3401C>G (p.Ala1134Gly)
8g.132906715C>TCA4883844TGc.3662C>T (p.Ala1221Val)
c.493C>T
c.317C>T
c.3401C>T (p.Ala1134Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906716G>ACA4883845TGc.3663G>A (p.Ala1221=)
c.494G>A
c.318G>A
c.3402G>A (p.Ala1134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906716G>CCA463010778TGc.3663G>C (p.Ala1221=)
c.494G>C
c.318G>C
c.3402G>C (p.Ala1134=)
8g.132906716G=CA1820999512TGc.3663G= (p.Ala1221=)
c.494G=
c.318G=
c.3402G= (p.Ala1134=)
8g.132906716G>TCA463010779TGc.3663G>T (p.Ala1221=)
c.494G>T
c.318G>T
c.3402G>T (p.Ala1134=)
 dbSNP gnomAD v4
8g.132906716_132906723delCA645541680TGc.3663_3670del (p.Ser1222GlyfsTer8)
c.494_501del
c.318_325del
c.3402_3409del (p.Ser1135GlyfsTer8)
 COSMIC
8g.132906717T>ACA372242971TGc.3664T>A (p.Ser1222Thr)
c.495T>A
c.319T>A
c.3403T>A (p.Ser1135Thr)
8g.132906717T>CCA372242972TGc.3664T>C (p.Ser1222Pro)
c.495T>C
c.319T>C
c.3403T>C (p.Ser1135Pro)
8g.132906717T>GCA372242973TGc.3664T>G (p.Ser1222Ala)
c.495T>G
c.319T>G
c.3403T>G (p.Ser1135Ala)
8g.132906718C>ACA372242974TGc.3665C>A (p.Ser1222Ter)
c.496C>A
c.320C>A
c.3404C>A (p.Ser1135Ter)
8g.132906718C=CA1820999513TGc.3665C= (p.Ser1222=)
c.496C=
c.320C=
c.3404C= (p.Ser1135=)
8g.132906718C>GCA372242975TGc.3665C>G (p.Ser1222Trp)
c.496C>G
c.320C>G
c.3404C>G (p.Ser1135Trp)
8g.132906718C>TCA4883846TGc.3665C>T (p.Ser1222Leu)
c.496C>T
c.320C>T
c.3404C>T (p.Ser1135Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132906719G>ACA4883847TGc.3666G>A (p.Ser1222=)
c.497G>A
c.321G>A
c.3405G>A (p.Ser1135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906719G>CCA463010781TGc.3666G>C (p.Ser1222=)
c.497G>C
c.321G>C
c.3405G>C (p.Ser1135=)
8g.132906719G=CA1820999514TGc.3666G= (p.Ser1222=)
c.497G=
c.321G=
c.3405G= (p.Ser1135=)
8g.132906719G>TCA463010783TGc.3666G>T (p.Ser1222=)
c.497G>T
c.321G>T
c.3405G>T (p.Ser1135=)
8g.132906720G>ACA372242978TGc.3667G>A (p.Glu1223Lys)
c.498G>A
c.322G>A
c.3406G>A (p.Glu1136Lys)
 gnomAD v4
8g.132906720G>CCA372242976TGc.3667G>C (p.Glu1223Gln)
c.498G>C
c.322G>C
c.3406G>C (p.Glu1136Gln)
8g.132906720G>TCA372242977TGc.3667G>T (p.Glu1223Ter)
c.498G>T
c.322G>T
c.3406G>T (p.Glu1136Ter)
8g.132906721A=CA1820999515TGc.3668A= (p.Glu1223=)
c.499A=
c.323A=
c.3407A= (p.Glu1136=)
8g.132906721A>CCA4883848TGc.3668A>C (p.Glu1223Ala)
c.499A>C
c.323A>C
c.3407A>C (p.Glu1136Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906721A>GCA372242979TGc.3668A>G (p.Glu1223Gly)
c.499A>G
c.323A>G
c.3407A>G (p.Glu1136Gly)
8g.132906721A>TCA372242980TGc.3668A>T (p.Glu1223Val)
c.499A>T
c.323A>T
c.3407A>T (p.Glu1136Val)
8g.132906722G>ACA463010786TGc.3669G>A (p.Glu1223=)
c.500G>A
c.324G>A
c.3408G>A (p.Glu1136=)
8g.132906722G>CCA372242981TGc.3669G>C (p.Glu1223Asp)
c.500G>C
c.324G>C
c.3408G>C (p.Glu1136Asp)
8g.132906722G=CA1820999516TGc.3669G= (p.Glu1223=)
c.500G=
c.324G=
c.3408G= (p.Glu1136=)
8g.132906722G>TCA186299631TGc.3669G>T (p.Glu1223Asp)
c.500G>T
c.324G>T
c.3408G>T (p.Glu1136Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.132906723G>ACA372242982TGc.3670G>A (p.Val1224Met)
c.501G>A
c.325G>A
c.3409G>A (p.Val1137Met)
 dbSNP gnomAD v4
8g.132906723G>CCA372242983TGc.3670G>C (p.Val1224Leu)
c.501G>C
c.325G>C
c.3409G>C (p.Val1137Leu)
8g.132906723G=CA1820999517TGc.3670G= (p.Val1224=)
c.501G=
c.325G=
c.3409G= (p.Val1137=)
8g.132906723G>TCA372242984TGc.3670G>T (p.Val1224Leu)
c.501G>T
c.325G>T
c.3409G>T (p.Val1137Leu)
8g.132906724T>ACA372242985TGc.3671T>A (p.Val1224Glu)
c.502T>A
c.326T>A
c.3410T>A (p.Val1137Glu)
8g.132906724T>CCA372242986TGc.3671T>C (p.Val1224Ala)
c.502T>C
c.326T>C
c.3410T>C (p.Val1137Ala)
8g.132906724T>GCA372242987TGc.3671T>G (p.Val1224Gly)
c.502T>G
c.326T>G
c.3410T>G (p.Val1137Gly)
 dbSNP
8g.132906724T=CA1820999518TGc.3671T= (p.Val1224=)
c.502T=
c.326T=
c.3410T= (p.Val1137=)
8g.132906725G>ACA463010788TGc.3672G>A (p.Val1224=)
c.503G>A
c.327G>A
c.3411G>A (p.Val1137=)
 gnomAD v4
8g.132906725G>CCA463010789TGc.3672G>C (p.Val1224=)
c.503G>C
c.327G>C
c.3411G>C (p.Val1137=)
8g.132906725G>TCA463010790TGc.3672G>T (p.Val1224=)
c.503G>T
c.327G>T
c.3411G>T (p.Val1137=)
8g.132906726delCA2688648093TGc.3673del (p.Val1225LeufsTer?)
c.504del
c.328del
c.3412del (p.Val1138LeufsTer?)
 gnomAD v4
8g.132906726G>ACA372242990TGc.3673G>A (p.Val1225Ile)
c.504G>A
c.328G>A
c.3412G>A (p.Val1138Ile)
 gnomAD v4
8g.132906726G>CCA372242988TGc.3673G>C (p.Val1225Leu)
c.504G>C
c.328G>C
c.3412G>C (p.Val1138Leu)
8g.132906726G>TCA372242989TGc.3673G>T (p.Val1225Phe)
c.504G>T
c.328G>T
c.3412G>T (p.Val1138Phe)
 COSMIC
8g.132906727T>ACA372242991TGc.3674T>A (p.Val1225Asp)
c.505T>A
c.329T>A
c.3413T>A (p.Val1138Asp)
8g.132906727T>CCA372242992TGc.3674T>C (p.Val1225Ala)
c.505T>C
c.329T>C
c.3413T>C (p.Val1138Ala)
 dbSNP
8g.132906727T>GCA372242993TGc.3674T>G (p.Val1225Gly)
c.505T>G
c.329T>G
c.3413T>G (p.Val1138Gly)
8g.132906727T=CA1820999519TGc.3674T= (p.Val1225=)
c.505T=
c.329T=
c.3413T= (p.Val1138=)
8g.132906728T>ACA463010794TGc.3675T>A (p.Val1225=)
c.506T>A
c.330T>A
c.3414T>A (p.Val1138=)
8g.132906728T>CCA463010795TGc.3675T>C (p.Val1225=)
c.506T>C
c.330T>C
c.3414T>C (p.Val1138=)
8g.132906728T>GCA463010796TGc.3675T>G (p.Val1225=)
c.506T>G
c.330T>G
c.3414T>G (p.Val1138=)
8g.132906728_132906729delinsTGCA1820999520TGc.3675_3676delinsTG (p.Val1225=)
c.506_507delinsTG
c.330_331delinsTG
c.3414_3415delinsTG (p.Val1138=)
8g.132906729G>ACA372242994TGc.3676G>A (p.Gly1226Ser)
c.507G>A
c.331G>A
c.3415G>A (p.Gly1139Ser)
8g.132906729G>CCA372242995TGc.3676G>C (p.Gly1226Arg)
c.507G>C
c.331G>C
c.3415G>C (p.Gly1139Arg)
8g.132906729G>TCA372242996TGc.3676G>T (p.Gly1226Cys)
c.507G>T
c.331G>T
c.3415G>T (p.Gly1139Cys)
8g.132906730delCA585277546TGc.3677del (p.Gly1226ValfsTer?)
c.508del
c.332del
c.3416del (p.Gly1139ValfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132906730G>ACA4883849TGc.3677G>A (p.Gly1226Asp)
c.508G>A
c.332G>A
c.3416G>A (p.Gly1139Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906730G>CCA372242997TGc.3677G>C (p.Gly1226Ala)
c.508G>C
c.332G>C
c.3416G>C (p.Gly1139Ala)
8g.132906730G=CA1820999521TGc.3677G= (p.Gly1226=)
c.508G=
c.332G=
c.3416G= (p.Gly1139=)
8g.132906730G>TCA372242998TGc.3677G>T (p.Gly1226Val)
c.508G>T
c.332G>T
c.3416G>T (p.Gly1139Val)
8g.132906731T>ACA463010798TGc.3678T>A (p.Gly1226=)
c.509T>A
c.333T>A
c.3417T>A (p.Gly1139=)
8g.132906731T>CCA463010799TGc.3678T>C (p.Gly1226=)
c.509T>C
c.333T>C
c.3417T>C (p.Gly1139=)
8g.132906731T>GCA463010801TGc.3678T>G (p.Gly1226=)
c.509T>G
c.333T>G
c.3417T>G (p.Gly1139=)
8g.132906732G>ACA372242999TGc.3679G>A (p.Gly1227Arg)
c.510G>A
c.334G>A
c.3418G>A (p.Gly1140Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.132906732G>CCA372243000TGc.3679G>C (p.Gly1227Arg)
c.510G>C
c.334G>C
c.3418G>C (p.Gly1140Arg)
8g.132906732G=CA1820999522TGc.3679G= (p.Gly1227=)
c.510G=
c.334G=
c.3418G= (p.Gly1140=)
8g.132906732G>TCA372243001TGc.3679G>T (p.Gly1227Ter)
c.510G>T
c.334G>T
c.3418G>T (p.Gly1140Ter)
8g.132906733G>ACA372243004TGc.3680G>A (p.Gly1227Glu)
c.511G>A
c.335G>A
c.3419G>A (p.Gly1140Glu)
 dbSNP gnomAD v4
8g.132906733G>CCA372243003TGc.3680G>C (p.Gly1227Ala)
c.511G>C
c.335G>C
c.3419G>C (p.Gly1140Ala)
8g.132906733G>TCA372243002TGc.3680G>T (p.Gly1227Val)
c.511G>T
c.335G>T
c.3419G>T (p.Gly1140Val)
8g.132906734A>CCA463010803TGc.3681A>C (p.Gly1227=)
c.512A>C
c.336A>C
c.3420A>C (p.Gly1140=)
8g.132906734A>GCA463010806TGc.3681A>G (p.Gly1227=)
c.512A>G
c.336A>G
c.3420A>G (p.Gly1140=)
8g.132906734A>TCA463010804TGc.3681A>T (p.Gly1227=)
c.512A>T
c.336A>T
c.3420A>T (p.Gly1140=)
8g.132906735A=CA1820999523TGc.3682A= (p.Thr1228=)
c.513A=
c.337A=
c.3421A= (p.Thr1141=)
8g.132906735A>CCA372243007TGc.3682A>C (p.Thr1228Pro)
c.513A>C
c.337A>C
c.3421A>C (p.Thr1141Pro)
8g.132906735A>GCA372243005TGc.3682A>G (p.Thr1228Ala)
c.513A>G
c.337A>G
c.3421A>G (p.Thr1141Ala)
 gnomAD v4
8g.132906735A>TCA372243006TGc.3682A>T (p.Thr1228Ser)
c.513A>T
c.337A>T
c.3421A>T (p.Thr1141Ser)
8g.132906736C>ACA372243008TGc.3683C>A (p.Thr1228Lys)
c.514C>A
c.338C>A
c.3422C>A (p.Thr1141Lys)
8g.132906736C=CA1820999524TGc.3683C= (p.Thr1228=)
c.514C=
c.338C=
c.3422C= (p.Thr1141=)
8g.132906736C>GCA372243009TGc.3683C>G (p.Thr1228Arg)
c.514C>G
c.338C>G
c.3422C>G (p.Thr1141Arg)
8g.132906736C>TCA4883851TGc.3683C>T (p.Thr1228Ile)
c.514C>T
c.338C>T
c.3422C>T (p.Thr1141Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906736dupCA4883850TGc.3683dup (p.Ile1229AsnfsTer4)
c.514dup
c.338dup
c.3422dup (p.Ile1142AsnfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906737A>CCA463010810TGc.3684A>C (p.Thr1228=)
c.515A>C
c.339A>C
c.3423A>C (p.Thr1141=)
8g.132906737A>GCA463010812TGc.3684A>G (p.Thr1228=)
c.515A>G
c.339A>G
c.3423A>G (p.Thr1141=)
 gnomAD v4
8g.132906737A>TCA463010813TGc.3684A>T (p.Thr1228=)
c.515A>T
c.339A>T
c.3423A>T (p.Thr1141=)
8g.132906738A>CCA372243010TGc.3685A>C (p.Ile1229Leu)
c.516A>C
c.340A>C
c.3424A>C (p.Ile1142Leu)
8g.132906738A>GCA372243011TGc.3685A>G (p.Ile1229Val)
c.516A>G
c.340A>G
c.3424A>G (p.Ile1142Val)
8g.132906738A>TCA372243012TGc.3685A>T (p.Ile1229Phe)
c.516A>T
c.340A>T
c.3424A>T (p.Ile1142Phe)
8g.132906739T>ACA372243013TGc.3686T>A (p.Ile1229Asn)
c.517T>A
c.341T>A
c.3425T>A (p.Ile1142Asn)
8g.132906739T>CCA4883852TGc.3686T>C (p.Ile1229Thr)
c.517T>C
c.341T>C
c.3425T>C (p.Ile1142Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906739T>GCA372243015TGc.3686T>G (p.Ile1229Ser)
c.517T>G
c.341T>G
c.3425T>G (p.Ile1142Ser)
8g.132906739T=CA1820999525TGc.3686T= (p.Ile1229=)
c.517T=
c.341T=
c.3425T= (p.Ile1142=)
8g.132906740C>ACA463010817TGc.3687C>A (p.Ile1229=)
c.518C>A
c.342C>A
c.3426C>A (p.Ile1142=)
8g.132906740C>GCA372243017TGc.3687C>G (p.Ile1229Met)
c.518C>G
c.342C>G
c.3426C>G (p.Ile1142Met)
8g.132906740C>TCA463010819TGc.3687C>T (p.Ile1229=)
c.518C>T
c.342C>T
c.3426C>T (p.Ile1142=)
8g.132906741C>ACA4883853TGc.3688C>A (p.Leu1230Met)
c.519C>A
c.343C>A
c.3427C>A (p.Leu1143Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906741C=CA1820999526TGc.3688C= (p.Leu1230=)
c.519C=
c.343C=
c.3427C= (p.Leu1143=)
8g.132906741C>GCA372243019TGc.3688C>G (p.Leu1230Val)
c.519C>G
c.343C>G
c.3427C>G (p.Leu1143Val)
8g.132906741C>TCA463010820TGc.3688C>T (p.Leu1230=)
c.519C>T
c.343C>T
c.3427C>T (p.Leu1143=)
8g.132906742T>ACA372243022TGc.3689T>A (p.Leu1230Gln)
c.520T>A
c.344T>A
c.3428T>A (p.Leu1143Gln)
8g.132906742T>CCA372243024TGc.3689T>C (p.Leu1230Pro)
c.520T>C
c.344T>C
c.3428T>C (p.Leu1143Pro)
 dbSNP gnomAD v4
8g.132906742T>GCA372243025TGc.3689T>G (p.Leu1230Arg)
c.520T>G
c.344T>G
c.3428T>G (p.Leu1143Arg)
8g.132906742T=CA1820999527TGc.3689T= (p.Leu1230=)
c.520T=
c.344T=
c.3428T= (p.Leu1143=)
8g.132906743G>ACA463010821TGc.3690G>A (p.Leu1230=)
c.521G>A
c.345G>A
c.3429G>A (p.Leu1143=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.132906743G>CCA463010822TGc.3690G>C (p.Leu1230=)
c.521G>C
c.345G>C
c.3429G>C (p.Leu1143=)
 dbSNP gnomAD v3 gnomAD v4
8g.132906743G=CA1820999528TGc.3690G= (p.Leu1230=)
c.521G=
c.345G=
c.3429G= (p.Leu1143=)
8g.132906743G>TCA463010823TGc.3690G>T (p.Leu1230=)
c.521G>T
c.345G>T
c.3429G>T (p.Leu1143=)
8g.132906744T>ACA372243027TGc.3691T>A (p.Cys1231Ser)
c.522T>A
c.346T>A
c.3430T>A (p.Cys1144Ser)
8g.132906744T>CCA4883854TGc.3691T>C (p.Cys1231Arg)
c.522T>C
c.346T>C
c.3430T>C (p.Cys1144Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906744T>GCA372243029TGc.3691T>G (p.Cys1231Gly)
c.522T>G
c.346T>G
c.3430T>G (p.Cys1144Gly)
8g.132906744T=CA1820999529TGc.3691T= (p.Cys1231=)
c.522T=
c.346T=
c.3430T= (p.Cys1144=)
8g.132906745G>ACA372243032TGc.3692G>A (p.Cys1231Tyr)
c.523G>A
c.347G>A
c.3431G>A (p.Cys1144Tyr)
8g.132906745G>CCA372243033TGc.3692G>C (p.Cys1231Ser)
c.523G>C
c.347G>C
c.3431G>C (p.Cys1144Ser)
8g.132906745G>TCA372243036TGc.3692G>T (p.Cys1231Phe)
c.523G>T
c.347G>T
c.3431G>T (p.Cys1144Phe)
8g.132906746T>ACA372243037TGc.3693T>A (p.Cys1231Ter)
c.524T>A
c.348T>A
c.3432T>A (p.Cys1144Ter)
8g.132906746T>CCA463010824TGc.3693T>C (p.Cys1231=)
c.524T>C
c.348T>C
c.3432T>C (p.Cys1144=)
8g.132906746T>GCA372243039TGc.3693T>G (p.Cys1231Trp)
c.524T>G
c.348T>G
c.3432T>G (p.Cys1144Trp)
8g.132906747G>ACA372243041TGc.3694G>A (p.Glu1232Lys)
c.525G>A
c.349G>A
c.3433G>A (p.Glu1145Lys)
8g.132906747G>CCA372243043TGc.3694G>C (p.Glu1232Gln)
c.525G>C
c.349G>C
c.3433G>C (p.Glu1145Gln)
 dbSNP COSMIC
8g.132906747G=CA1820999530TGc.3694G= (p.Glu1232=)
c.525G=
c.349G=
c.3433G= (p.Glu1145=)
8g.132906747G>TCA372243045TGc.3694G>T (p.Glu1232Ter)
c.525G>T
c.349G>T
c.3433G>T (p.Glu1145Ter)
8g.132906747_132906750dupCA2688648126TGc.3694_3697dup (p.Thr1233ArgfsTer?)
c.525_528dup
c.349_352dup
c.3433_3436dup (p.Thr1146ArgfsTer?)
 ClinVar gnomAD v4
8g.132906748A>CCA372243049TGc.3695A>C (p.Glu1232Ala)
c.526A>C
c.350A>C
c.3434A>C (p.Glu1145Ala)
8g.132906748A>GCA372243050TGc.3695A>G (p.Glu1232Gly)
c.526A>G
c.350A>G
c.3434A>G (p.Glu1145Gly)
8g.132906748A>TCA372243046TGc.3695A>T (p.Glu1232Val)
c.526A>T
c.350A>T
c.3434A>T (p.Glu1145Val)
8g.132906749G>ACA463010825TGc.3696G>A (p.Glu1232=)
c.527G>A
c.351G>A
c.3435G>A (p.Glu1145=)
 ClinVar
8g.132906749G>CCA372243052TGc.3696G>C (p.Glu1232Asp)
c.527G>C
c.351G>C
c.3435G>C (p.Glu1145Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.132906749G=CA1820999531TGc.3696G= (p.Glu1232=)
c.527G=
c.351G=
c.3435G= (p.Glu1145=)
8g.132906749G>TCA372243054TGc.3696G>T (p.Glu1232Asp)
c.527G>T
c.351G>T
c.3435G>T (p.Glu1145Asp)
8g.132906750A=CA1820999532TGc.3697A= (p.Thr1233=)
c.528A=
c.352A=
c.3436A= (p.Thr1146=)
8g.132906750A>CCA372243056TGc.3697A>C (p.Thr1233Pro)
c.528A>C
c.352A>C
c.3436A>C (p.Thr1146Pro)
8g.132906750A>GCA4883855TGc.3697A>G (p.Thr1233Ala)
c.528A>G
c.352A>G
c.3436A>G (p.Thr1146Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906750A>TCA372243058TGc.3697A>T (p.Thr1233Ser)
c.528A>T
c.352A>T
c.3436A>T (p.Thr1146Ser)
8g.132906751C>ACA372243061TGc.3698C>A (p.Thr1233Lys)
c.529C>A
c.353C>A
c.3437C>A (p.Thr1146Lys)
8g.132906751C=CA1820999533TGc.3698C= (p.Thr1233=)
c.529C=
c.353C=
c.3437C= (p.Thr1146=)
8g.132906751C>GCA372243062TGc.3698C>G (p.Thr1233Arg)
c.529C>G
c.353C>G
c.3437C>G (p.Thr1146Arg)
8g.132906751C>TCA4883856TGc.3698C>T (p.Thr1233Ile)
c.529C>T
c.353C>T
c.3437C>T (p.Thr1146Ile)
 dbSNP ExAC gnomAD v2
8g.132906752A>CCA463010828TGc.3699A>C (p.Thr1233=)
c.530A>C
c.354A>C
c.3438A>C (p.Thr1146=)
 ClinVar
8g.132906752A>GCA463010829TGc.3699A>G (p.Thr1233=)
c.530A>G
c.354A>G
c.3438A>G (p.Thr1146=)
 ClinVar
8g.132906752A>TCA463010830TGc.3699A>T (p.Thr1233=)
c.530A>T
c.354A>T
c.3438A>T (p.Thr1146=)
8g.132906753A>CCA372243065TGc.3700A>C (p.Ile1234Leu)
c.531A>C
c.355A>C
c.3439A>C (p.Ile1147Leu)
8g.132906753A>GCA372243067TGc.3700A>G (p.Ile1234Val)
c.531A>G
c.355A>G
c.3439A>G (p.Ile1147Val)
8g.132906753A>TCA372243069TGc.3700A>T (p.Ile1234Phe)
c.531A>T
c.355A>T
c.3439A>T (p.Ile1147Phe)
8g.132906754T>ACA372243072TGc.3701T>A (p.Ile1234Asn)
c.532T>A
c.356T>A
c.3440T>A (p.Ile1147Asn)
8g.132906754T>CCA372243073TGc.3701T>C (p.Ile1234Thr)
c.532T>C
c.356T>C
c.3440T>C (p.Ile1147Thr)
 dbSNP gnomAD v4
8g.132906754T>GCA372243074TGc.3701T>G (p.Ile1234Ser)
c.532T>G
c.356T>G
c.3440T>G (p.Ile1147Ser)
8g.132906755C>ACA463010832TGc.3702C>A (p.Ile1234=)
c.533C>A
c.357C>A
c.3441C>A (p.Ile1147=)
 ClinVar gnomAD v4
8g.132906755C=CA1820999534TGc.3702C= (p.Ile1234=)
c.533C=
c.357C=
c.3441C= (p.Ile1147=)
8g.132906755C>GCA372243076TGc.3702C>G (p.Ile1234Met)
c.533C>G
c.357C>G
c.3441C>G (p.Ile1147Met)
8g.132906755C>TCA463010831TGc.3702C>T (p.Ile1234=)
c.533C>T
c.357C>T
c.3441C>T (p.Ile1147=)
 dbSNP
8g.132906756T>ACA372243079TGc.3703T>A (p.Ser1235Thr)
c.534T>A
c.358T>A
c.3442T>A (p.Ser1148Thr)
8g.132906756T>CCA372243081TGc.3703T>C (p.Ser1235Pro)
c.534T>C
c.358T>C
c.3442T>C (p.Ser1148Pro)
8g.132906756T>GCA4883857TGc.3703T>G (p.Ser1235Ala)
c.534T>G
c.358T>G
c.3442T>G (p.Ser1148Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906756T=CA1820999535TGc.3703T= (p.Ser1235=)
c.534T=
c.358T=
c.3442T= (p.Ser1148=)
8g.132906757C>ACA372243083TGc.3704C>A (p.Ser1235Ter)
c.535C>A
c.359C>A
c.3443C>A (p.Ser1148Ter)
8g.132906757C=CA1820999536TGc.3704C= (p.Ser1235=)
c.535C=
c.359C=
c.3443C= (p.Ser1148=)
8g.132906757C>GCA372243085TGc.3704C>G (p.Ser1235Trp)
c.535C>G
c.359C>G
c.3443C>G (p.Ser1148Trp)
 dbSNP gnomAD v4
8g.132906757C>TCA4883858TGc.3704C>T (p.Ser1235Leu)
c.535C>T
c.359C>T
c.3443C>T (p.Ser1148Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132906758G>ACA4883859TGc.3705G>A (p.Ser1235=)
c.536G>A
c.360G>A
c.3444G>A (p.Ser1148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132906758G>CCA463010834TGc.3705G>C (p.Ser1235=)
c.536G>C
c.360G>C
c.3444G>C (p.Ser1148=)
8g.132906758G=CA1820999537TGc.3705G= (p.Ser1235=)
c.536G=
c.360G=
c.3444G= (p.Ser1148=)
8g.132906758G>TCA463010833TGc.3705G>T (p.Ser1235=)
c.536G>T
c.360G>T
c.3444G>T (p.Ser1148=)
8g.132906759G>ACA372243090TGc.3706G>A (p.Gly1236Ser)
c.537G>A
c.361G>A
c.3445G>A (p.Gly1149Ser)
 dbSNP
8g.132906759G>CCA372243091TGc.3706G>C (p.Gly1236Arg)
c.537G>C
c.361G>C
c.3445G>C (p.Gly1149Arg)
8g.132906759G=CA1820999538TGc.3706G= (p.Gly1236=)
c.537G=
c.361G=
c.3445G= (p.Gly1149=)
8g.132906759G>TCA372243092TGc.3706G>T (p.Gly1236Cys)
c.537G>T
c.361G>T
c.3445G>T (p.Gly1149Cys)
8g.132906760G>ACA372243094TGc.3707G>A (p.Gly1236Asp)
c.538G>A
c.362G>A
c.3446G>A (p.Gly1149Asp)
 gnomAD v4
8g.132906760G>CCA372243100TGc.3707G>C (p.Gly1236Ala)
c.538G>C
c.362G>C
c.3446G>C (p.Gly1149Ala)
8g.132906760G>TCA372243101TGc.3707G>T (p.Gly1236Val)
c.538G>T
c.362G>T
c.3446G>T (p.Gly1149Val)
8g.132906761C>ACA463010835TGc.3708C>A (p.Gly1236=)
c.539C>A
c.363C>A
c.3447C>A (p.Gly1149=)
8g.132906761C>GCA463010837TGc.3708C>G (p.Gly1236=)
c.539C>G
c.363C>G
c.3447C>G (p.Gly1149=)
8g.132906761C>TCA463010836TGc.3708C>T (p.Gly1236=)
c.539C>T
c.363C>T
c.3447C>T (p.Gly1149=)
8g.132906762C>ACA372243104TGc.3709C>A (p.Pro1237Thr)
c.540C>A
c.364C>A
c.3448C>A (p.Pro1150Thr)
 dbSNP COSMIC
8g.132906762C=CA1820999539TGc.3709C= (p.Pro1237=)
c.540C=
c.364C=
c.3448C= (p.Pro1150=)
8g.132906762C>GCA372243106TGc.3709C>G (p.Pro1237Ala)
c.540C>G
c.364C>G
c.3448C>G (p.Pro1150Ala)
8g.132906762C>TCA372243103TGc.3709C>T (p.Pro1237Ser)
c.540C>T
c.364C>T
c.3448C>T (p.Pro1150Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.132906763C>ACA372243108TGc.3710C>A (p.Pro1237His)
c.541C>A
c.365C>A
c.3449C>A (p.Pro1150His)
8g.132906763C=CA1820999540TGc.3710C= (p.Pro1237=)
c.541C=
c.365C=
c.3449C= (p.Pro1150=)
8g.132906763C>GCA4883860TGc.3710C>G (p.Pro1237Arg)
c.541C>G
c.365C>G
c.3449C>G (p.Pro1150Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906763C>TCA372243111TGc.3710C>T (p.Pro1237Leu)
c.541C>T
c.365C>T
c.3449C>T (p.Pro1150Leu)
8g.132906764C>ACA4883861TGc.3711C>A (p.Pro1237=)
c.542C>A
c.366C>A
c.3450C>A (p.Pro1150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906764C=CA1820999541TGc.3711C= (p.Pro1237=)
c.542C=
c.366C=
c.3450C= (p.Pro1150=)
8g.132906764C>GCA463010838TGc.3711C>G (p.Pro1237=)
c.542C>G
c.366C>G
c.3450C>G (p.Pro1150=)
8g.132906764C>TCA463010839TGc.3711C>T (p.Pro1237=)
c.542C>T
c.366C>T
c.3450C>T (p.Pro1150=)
 gnomAD v4
8g.132906765A>CCA372243114TGc.3712A>C (p.Thr1238Pro)
c.543A>C
c.367A>C
c.3451A>C (p.Thr1151Pro)
8g.132906765A>GCA372243116TGc.3712A>G (p.Thr1238Ala)
c.543A>G
c.367A>G
c.3451A>G (p.Thr1151Ala)
8g.132906765A>TCA372243118TGc.3712A>T (p.Thr1238Ser)
c.543A>T
c.367A>T
c.3451A>T (p.Thr1151Ser)
8g.132906766C>ACA372243120TGc.3713C>A (p.Thr1238Lys)
c.544C>A
c.368C>A
c.3452C>A (p.Thr1151Lys)
8g.132906766C>GCA372243122TGc.3713C>G (p.Thr1238Arg)
c.544C>G
c.368C>G
c.3452C>G (p.Thr1151Arg)
8g.132906766C>TCA372243123TGc.3713C>T (p.Thr1238Ile)
c.544C>T
c.368C>T
c.3452C>T (p.Thr1151Ile)
 gnomAD v4
8g.132906767A>CCA463010840TGc.3714A>C (p.Thr1238=)
c.545A>C
c.369A>C
c.3453A>C (p.Thr1151=)
8g.132906767A>GCA463010841TGc.3714A>G (p.Thr1238=)
c.545A>G
c.369A>G
c.3453A>G (p.Thr1151=)
8g.132906767A>TCA463010842TGc.3714A>T (p.Thr1238=)
c.545A>T
c.369A>T
c.3453A>T (p.Thr1151=)
8g.132906768G>ACA4883862TGc.3715G>A (p.Gly1239Ser)
c.546G>A
c.370G>A
c.3454G>A (p.Gly1152Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906768G>CCA372243126TGc.3715G>C (p.Gly1239Arg)
c.546G>C
c.370G>C
c.3454G>C (p.Gly1152Arg)
8g.132906768G=CA1820999542TGc.3715G= (p.Gly1239=)
c.546G=
c.370G=
c.3454G= (p.Gly1152=)
8g.132906768G>TCA372243128TGc.3715G>T (p.Gly1239Cys)
c.546G>T
c.370G>T
c.3454G>T (p.Gly1152Cys)
8g.132906769G>ACA372243132TGc.3716G>A (p.Gly1239Asp)
c.547G>A
c.371G>A
c.3455G>A (p.Gly1152Asp)
 dbSNP gnomAD v4
8g.132906769G>CCA186299670TGc.3716G>C (p.Gly1239Ala)
c.547G>C
c.371G>C
c.3455G>C (p.Gly1152Ala)
 dbSNP gnomAD v4
8g.132906769G=CA1820999543TGc.3716G= (p.Gly1239=)
c.547G=
c.371G=
c.3455G= (p.Gly1152=)
8g.132906769G>TCA372243130TGc.3716G>T (p.Gly1239Val)
c.547G>T
c.371G>T
c.3455G>T (p.Gly1152Val)
8g.132906770C>ACA463010843TGc.3717C>A (p.Gly1239=)
c.548C>A
c.372C>A
c.3456C>A (p.Gly1152=)
8g.132906770C=CA1820999544TGc.3717C= (p.Gly1239=)
c.548C=
c.372C=
c.3456C= (p.Gly1152=)
8g.132906770C>GCA463010844TGc.3717C>G (p.Gly1239=)
c.548C>G
c.372C>G
c.3456C>G (p.Gly1152=)
 dbSNP gnomAD v4
8g.132906770C>TCA463010845TGc.3717C>T (p.Gly1239=)
c.548C>T
c.372C>T
c.3456C>T (p.Gly1152=)
 dbSNP
8g.132906771T>ACA372243135TGc.3718T>A (p.Ser1240Thr)
c.549T>A
c.373T>A
c.3457T>A (p.Ser1153Thr)
8g.132906771T>CCA372243136TGc.3718T>C (p.Ser1240Pro)
c.549T>C
c.373T>C
c.3457T>C (p.Ser1153Pro)
8g.132906771T>GCA372243137TGc.3718T>G (p.Ser1240Ala)
c.549T>G
c.373T>G
c.3457T>G (p.Ser1153Ala)
 dbSNP
8g.132906772C>ACA372243139TGc.3719C>A (p.Ser1240Tyr)
c.550C>A
c.374C>A
c.3458C>A (p.Ser1153Tyr)
8g.132906772C>GCA372243141TGc.3719C>G (p.Ser1240Cys)
c.550C>G
c.374C>G
c.3458C>G (p.Ser1153Cys)
8g.132906772C>TCA372243142TGc.3719C>T (p.Ser1240Phe)
c.550C>T
c.374C>T
c.3458C>T (p.Ser1153Phe)
8g.132906773T>ACA463010846TGc.3720T>A (p.Ser1240=)
c.551T>A
c.375T>A
c.3459T>A (p.Ser1153=)
8g.132906773T>CCA463010847TGc.3720T>C (p.Ser1240=)
c.551T>C
c.375T>C
c.3459T>C (p.Ser1153=)
8g.132906773T>GCA463010848TGc.3720T>G (p.Ser1240=)
c.551T>G
c.375T>G
c.3459T>G (p.Ser1153=)
8g.132906774G>ACA372243145TGc.3721G>A (p.Ala1241Thr)
c.552G>A
c.376G>A
c.3460G>A (p.Ala1154Thr)
8g.132906774G>CCA372243147TGc.3721G>C (p.Ala1241Pro)
c.552G>C
c.376G>C
c.3460G>C (p.Ala1154Pro)
8g.132906774G>TCA372243149TGc.3721G>T (p.Ala1241Ser)
c.552G>T
c.376G>T
c.3460G>T (p.Ala1154Ser)
8g.132906775C>ACA372243151TGc.3722C>A (p.Ala1241Asp)
c.553C>A
c.377C>A
c.3461C>A (p.Ala1154Asp)
8g.132906775C>GCA372243152TGc.3722C>G (p.Ala1241Gly)
c.553C>G
c.377C>G
c.3461C>G (p.Ala1154Gly)
8g.132906775C>TCA372243153TGc.3722C>T (p.Ala1241Val)
c.553C>T
c.377C>T
c.3461C>T (p.Ala1154Val)
8g.132906776C>ACA4883863TGc.3723C>A (p.Ala1241=)
c.554C>A
c.378C>A
c.3462C>A (p.Ala1154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906776C=CA1820999545TGc.3723C= (p.Ala1241=)
c.554C=
c.378C=
c.3462C= (p.Ala1154=)
8g.132906776C>GCA463010849TGc.3723C>G (p.Ala1241=)
c.554C>G
c.378C>G
c.3462C>G (p.Ala1154=)
8g.132906776C>TCA463010850TGc.3723C>T (p.Ala1241=)
c.554C>T
c.378C>T
c.3462C>T (p.Ala1154=)
8g.132906777A>CCA372243160TGc.3724A>C (p.Met1242Leu)
c.555A>C
c.379A>C
c.3463A>C (p.Met1155Leu)
8g.132906777A>GCA372243157TGc.3724A>G (p.Met1242Val)
c.555A>G
c.379A>G
c.3463A>G (p.Met1155Val)
8g.132906777A>TCA372243158TGc.3724A>T (p.Met1242Leu)
c.555A>T
c.379A>T
c.3463A>T (p.Met1155Leu)
8g.132906778T>ACA372243162TGc.3725T>A (p.Met1242Lys)
c.556T>A
c.380T>A
c.3464T>A (p.Met1155Lys)
8g.132906778T>CCA4883864TGc.3725T>C (p.Met1242Thr)
c.556T>C
c.380T>C
c.3464T>C (p.Met1155Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132906778T>GCA372243164TGc.3725T>G (p.Met1242Arg)
c.556T>G
c.380T>G
c.3464T>G (p.Met1155Arg)
8g.132906778T=CA1820999546TGc.3725T= (p.Met1242=)
c.556T=
c.380T=
c.3464T= (p.Met1155=)
8g.132906779G>ACA372243167TGc.3726G>A (p.Met1242Ile)
c.557G>A
c.381G>A
c.3465G>A (p.Met1155Ile)
8g.132906779G>CCA372243169TGc.3726G>C (p.Met1242Ile)
c.557G>C
c.381G>C
c.3465G>C (p.Met1155Ile)
 dbSNP
8g.132906779G=CA1820999547TGc.3726G= (p.Met1242=)
c.557G=
c.381G=
c.3465G= (p.Met1155=)
8g.132906779G>TCA372243170TGc.3726G>T (p.Met1242Ile)
c.557G>T
c.381G>T
c.3465G>T (p.Met1155Ile)
 dbSNP
8g.132906780C>ACA372243176TGc.3727C>A (p.Gln1243Lys)
c.558C>A
c.382C>A
c.3466C>A (p.Gln1156Lys)
 dbSNP
8g.132906780C=CA1820999548TGc.3727C= (p.Gln1243=)
c.558C=
c.382C=
c.3466C= (p.Gln1156=)
8g.132906780C>GCA372243174TGc.3727C>G (p.Gln1243Glu)
c.558C>G
c.382C>G
c.3466C>G (p.Gln1156Glu)
 ClinVar
8g.132906780C>TCA4883865TGc.3727C>T (p.Gln1243Ter)
c.558C>T
c.382C>T
c.3466C>T (p.Gln1156Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906781A>CCA372243178TGc.3728A>C (p.Gln1243Pro)
c.559A>C
c.383A>C
c.3467A>C (p.Gln1156Pro)
8g.132906781A>GCA372243180TGc.3728A>G (p.Gln1243Arg)
c.559A>G
c.383A>G
c.3467A>G (p.Gln1156Arg)
 COSMIC
8g.132906781A>TCA372243181TGc.3728A>T (p.Gln1243Leu)
c.559A>T
c.383A>T
c.3467A>T (p.Gln1156Leu)
8g.132906782G>ACA4883866TGc.3729G>A (p.Gln1243=)
c.560G>A
c.384G>A
c.3468G>A (p.Gln1156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906782G>CCA372243184TGc.3729G>C (p.Gln1243His)
c.560G>C
c.384G>C
c.3468G>C (p.Gln1156His)
8g.132906782G=CA1820999549TGc.3729G= (p.Gln1243=)
c.560G=
c.384G=
c.3468G= (p.Gln1156=)
8g.132906782G>TCA372243186TGc.3729G>T (p.Gln1243His)
c.560G>T
c.384G>T
c.3468G>T (p.Gln1156His)
8g.132906783C>ACA372243192TGc.3730C>A (p.Gln1244Lys)
c.561C>A
c.385C>A
c.3469C>A (p.Gln1157Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.132906783C=CA1820999550TGc.3730C= (p.Gln1244=)
c.561C=
c.385C=
c.3469C= (p.Gln1157=)
8g.132906783C>GCA372243188TGc.3730C>G (p.Gln1244Glu)
c.561C>G
c.385C>G
c.3469C>G (p.Gln1157Glu)
8g.132906783C>TCA372243190TGc.3730C>T (p.Gln1244Ter)
c.561C>T
c.385C>T
c.3469C>T (p.Gln1157Ter)
8g.132906784A=CA1820999551TGc.3731A= (p.Gln1244=)
c.562A=
c.386A=
c.3470A= (p.Gln1157=)
8g.132906784A>CCA372243194TGc.3731A>C (p.Gln1244Pro)
c.562A>C
c.386A>C
c.3470A>C (p.Gln1157Pro)
8g.132906784A>GCA4883867TGc.3731A>G (p.Gln1244Arg)
c.562A>G
c.386A>G
c.3470A>G (p.Gln1157Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132906784A>TCA372243197TGc.3731A>T (p.Gln1244Leu)
c.562A>T
c.386A>T
c.3470A>T (p.Gln1157Leu)
8g.132906785G>ACA463010851TGc.3732G>A (p.Gln1244=)
c.563G>A
c.387G>A
c.3471G>A (p.Gln1157=)
 dbSNP
8g.132906785G>CCA372243199TGc.3732G>C (p.Gln1244His)
c.563G>C
c.387G>C
c.3471G>C (p.Gln1157His)
8g.132906785G=CA1820999552TGc.3732G= (p.Gln1244=)
c.563G=
c.387G=
c.3471G= (p.Gln1157=)
8g.132906785G>TCA372243201TGc.3732G>T (p.Gln1244His)
c.563G>T
c.387G>T
c.3471G>T (p.Gln1157His)
8g.132906786T>ACA372243203TGc.3733T>A (p.Cys1245Ser)
c.564T>A
c.388T>A
c.3472T>A (p.Cys1158Ser)
8g.132906786T>CCA210700TGc.3733T>C (p.Cys1245Arg)
c.564T>C
c.388T>C
c.3472T>C (p.Cys1158Arg)
 ClinVar dbSNP
8g.132906786T>GCA372243206TGc.3733T>G (p.Cys1245Gly)
c.564T>G
c.388T>G
c.3472T>G (p.Cys1158Gly)
8g.132906786T=CA1820999553TGc.3733T= (p.Cys1245=)
c.564T=
c.388T=
c.3472T= (p.Cys1158=)

Number of alleles fetched