Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.116783327A>CCA368991460METc.*1261A>C (n.*1261A>C)
c.3710A>C (p.Lys1237Thr)
c.3656A>C (p.Lys1219Thr)
c.2366A>C (p.Lys789Thr)
c.3713A>C (p.Lys1238Thr)
n.3787A>C
7g.116783327A>GCA368991461METc.*1261A>G (n.*1261A>G)
c.3710A>G (p.Lys1237Arg)
c.3656A>G (p.Lys1219Arg)
c.2366A>G (p.Lys789Arg)
c.3713A>G (p.Lys1238Arg)
n.3787A>G
ClinVar
7g.116783327A>TCA368991463METc.*1261A>T (n.*1261A>T)
c.3710A>T (p.Lys1237Met)
c.3656A>T (p.Lys1219Met)
c.2366A>T (p.Lys789Met)
c.3713A>T (p.Lys1238Met)
n.3787A>T
dbSNP
7g.116783328G>ACA457219411METc.*1262G>A (n.*1262G>A)
c.3711G>A (p.Lys1237=)
c.3657G>A (p.Lys1219=)
c.2367G>A (p.Lys789=)
c.3714G>A (p.Lys1238=)
n.3788G>A
dbSNP
7g.116783328G>CCA368991465METc.*1262G>C (n.*1262G>C)
c.3711G>C (p.Lys1237Asn)
c.3657G>C (p.Lys1219Asn)
c.2367G>C (p.Lys789Asn)
c.3714G>C (p.Lys1238Asn)
n.3788G>C
ClinVar dbSNP
7g.116783328G=CA1737014256METc.*1262G= (n.*1262G=)
c.3711G= (p.Lys1237=)
c.3657G= (p.Lys1219=)
c.2367G= (p.Lys789=)
c.3714G= (p.Lys1238=)
n.3788G=
7g.116783328G>TCA368991467METc.*1262G>T (n.*1262G>T)
c.3711G>T (p.Lys1237Asn)
c.3657G>T (p.Lys1219Asn)
c.2367G>T (p.Lys789Asn)
c.3714G>T (p.Lys1238Asn)
n.3788G>T
dbSNP
7g.116783329G>ACA256997METc.*1263G>A (n.*1263G>A)
c.3712G>A (p.Val1238Ile)
c.3658G>A (p.Val1220Ile)
c.2368G>A (p.Val790Ile)
c.3715G>A (p.Val1239Ile)
n.3789G>A
ClinVar dbSNP gnomAD v4 COSMIC
7g.116783329G>CCA368991469METc.*1263G>C (n.*1263G>C)
c.3712G>C (p.Val1238Leu)
c.3658G>C (p.Val1220Leu)
c.2368G>C (p.Val790Leu)
c.3715G>C (p.Val1239Leu)
n.3789G>C
ClinVar dbSNP
7g.116783329G=CA1737014260METc.*1263G= (n.*1263G=)
c.3712G= (p.Val1238=)
c.3658G= (p.Val1220=)
c.2368G= (p.Val790=)
c.3715G= (p.Val1239=)
n.3789G=
7g.116783329G>TCA368991472METc.*1263G>T (n.*1263G>T)
c.3712G>T (p.Val1238Phe)
c.3658G>T (p.Val1220Phe)
c.2368G>T (p.Val790Phe)
c.3715G>T (p.Val1239Phe)
n.3789G>T
ClinVar dbSNP
7g.116783330T>ACA368991473METc.*1264T>A (n.*1264T>A)
c.3713T>A (p.Val1238Asp)
c.3659T>A (p.Val1220Asp)
c.2369T>A (p.Val790Asp)
c.3716T>A (p.Val1239Asp)
n.3790T>A
dbSNP
7g.116783330T>CCA368991475METc.*1264T>C (n.*1264T>C)
c.3713T>C (p.Val1238Ala)
c.3659T>C (p.Val1220Ala)
c.2369T>C (p.Val790Ala)
c.3716T>C (p.Val1239Ala)
n.3790T>C
ClinVar dbSNP
7g.116783330T>GCA368991477METc.*1264T>G (n.*1264T>G)
c.3713T>G (p.Val1238Gly)
c.3659T>G (p.Val1220Gly)
c.2369T>G (p.Val790Gly)
c.3716T>G (p.Val1239Gly)
n.3790T>G
7g.116783330T=CA1737014269METc.*1264T= (n.*1264T=)
c.3713T= (p.Val1238=)
c.3659T= (p.Val1220=)
c.2369T= (p.Val790=)
c.3716T= (p.Val1239=)
n.3790T=
7g.116783331T>ACA457219416METc.*1265T>A (n.*1265T>A)
c.3714T>A (p.Val1238=)
c.3660T>A (p.Val1220=)
c.2370T>A (p.Val790=)
c.3717T>A (p.Val1239=)
n.3791T>A
dbSNP
7g.116783331T>CCA457219417METc.*1265T>C (n.*1265T>C)
c.3714T>C (p.Val1238=)
c.3660T>C (p.Val1220=)
c.2370T>C (p.Val790=)
c.3717T>C (p.Val1239=)
n.3791T>C
7g.116783331T>GCA457219415METc.*1265T>G (n.*1265T>G)
c.3714T>G (p.Val1238=)
c.3660T>G (p.Val1220=)
c.2370T>G (p.Val790=)
c.3717T>G (p.Val1239=)
n.3791T>G
7g.116783332G>ACA368991481METc.*1266G>A (n.*1266G>A)
c.3715G>A (p.Ala1239Thr)
c.3661G>A (p.Ala1221Thr)
c.2371G>A (p.Ala791Thr)
c.3718G>A (p.Ala1240Thr)
n.3792G>A
dbSNP gnomAD v4
7g.116783332G>CCA368991483METc.*1266G>C (n.*1266G>C)
c.3715G>C (p.Ala1239Pro)
c.3661G>C (p.Ala1221Pro)
c.2371G>C (p.Ala791Pro)
c.3718G>C (p.Ala1240Pro)
n.3792G>C
dbSNP
7g.116783332G>TCA368991479METc.*1266G>T (n.*1266G>T)
c.3715G>T (p.Ala1239Ser)
c.3661G>T (p.Ala1221Ser)
c.2371G>T (p.Ala791Ser)
c.3718G>T (p.Ala1240Ser)
n.3792G>T
dbSNP
7g.116783332_116783333delinsATCA2580076299METc.*1266_*1267delinsAT (n.*1266_*1267delinsAT)
c.3715_3716delinsAT (p.Ala1239Ile)
c.3661_3662delinsAT (p.Ala1221Ile)
c.2371_2372delinsAT (p.Ala791Ile)
c.3718_3719delinsAT (p.Ala1240Ile)
n.3792_3793delinsAT
ClinVar
7g.116783333C>ACA368991488METc.*1267C>A (n.*1267C>A)
c.3716C>A (p.Ala1239Asp)
c.3662C>A (p.Ala1221Asp)
c.2372C>A (p.Ala791Asp)
c.3719C>A (p.Ala1240Asp)
n.3793C>A
dbSNP COSMIC
7g.116783333C>GCA368991485METc.*1267C>G (n.*1267C>G)
c.3716C>G (p.Ala1239Gly)
c.3662C>G (p.Ala1221Gly)
c.2372C>G (p.Ala791Gly)
c.3719C>G (p.Ala1240Gly)
n.3793C>G
dbSNP
7g.116783333C>TCA368991487METc.*1267C>T (n.*1267C>T)
c.3716C>T (p.Ala1239Val)
c.3662C>T (p.Ala1221Val)
c.2372C>T (p.Ala791Val)
c.3719C>T (p.Ala1240Val)
n.3793C>T
dbSNP gnomAD v4
7g.116783334T>ACA457219420METc.*1268T>A (n.*1268T>A)
c.3717T>A (p.Ala1239=)
c.3663T>A (p.Ala1221=)
c.2373T>A (p.Ala791=)
c.3720T>A (p.Ala1240=)
n.3794T>A
7g.116783334T>CCA457219418METc.*1268T>C (n.*1268T>C)
c.3717T>C (p.Ala1239=)
c.3663T>C (p.Ala1221=)
c.2373T>C (p.Ala791=)
c.3720T>C (p.Ala1240=)
n.3794T>C
7g.116783334T>GCA457219419METc.*1268T>G (n.*1268T>G)
c.3717T>G (p.Ala1239=)
c.3663T>G (p.Ala1221=)
c.2373T>G (p.Ala791=)
c.3720T>G (p.Ala1240=)
n.3794T>G
7g.116783335G>ACA368991491METc.*1269G>A (n.*1269G>A)
c.3718G>A (p.Asp1240Asn)
c.3664G>A (p.Asp1222Asn)
c.2374G>A (p.Asp792Asn)
c.3721G>A (p.Asp1241Asn)
n.3795G>A
dbSNP
7g.116783335G>CCA368991493METc.*1269G>C (n.*1269G>C)
c.3718G>C (p.Asp1240His)
c.3664G>C (p.Asp1222His)
c.2374G>C (p.Asp792His)
c.3721G>C (p.Asp1241His)
n.3795G>C
dbSNP
7g.116783335G>TCA368991495METc.*1269G>T (n.*1269G>T)
c.3718G>T (p.Asp1240Tyr)
c.3664G>T (p.Asp1222Tyr)
c.2374G>T (p.Asp792Tyr)
c.3721G>T (p.Asp1241Tyr)
n.3795G>T
7g.116783336A>CCA368991497METc.*1270A>C (n.*1270A>C)
c.3719A>C (p.Asp1240Ala)
c.3665A>C (p.Asp1222Ala)
c.2375A>C (p.Asp792Ala)
c.3722A>C (p.Asp1241Ala)
n.3796A>C
7g.116783336A>GCA368991499METc.*1270A>G (n.*1270A>G)
c.3719A>G (p.Asp1240Gly)
c.3665A>G (p.Asp1222Gly)
c.2375A>G (p.Asp792Gly)
c.3722A>G (p.Asp1241Gly)
n.3796A>G
7g.116783336A>TCA368991501METc.*1270A>T (n.*1270A>T)
c.3719A>T (p.Asp1240Val)
c.3665A>T (p.Asp1222Val)
c.2375A>T (p.Asp792Val)
c.3722A>T (p.Asp1241Val)
n.3796A>T
dbSNP
7g.116783337T>ACA368991503METc.*1271T>A (n.*1271T>A)
c.3720T>A (p.Asp1240Glu)
c.3666T>A (p.Asp1222Glu)
c.2376T>A (p.Asp792Glu)
c.3723T>A (p.Asp1241Glu)
n.3797T>A
7g.116783337T>CCA457219422METc.*1271T>C (n.*1271T>C)
c.3720T>C (p.Asp1240=)
c.3666T>C (p.Asp1222=)
c.2376T>C (p.Asp792=)
c.3723T>C (p.Asp1241=)
n.3797T>C
7g.116783337T>GCA368991504METc.*1271T>G (n.*1271T>G)
c.3720T>G (p.Asp1240Glu)
c.3666T>G (p.Asp1222Glu)
c.2376T>G (p.Asp792Glu)
c.3723T>G (p.Asp1241Glu)
n.3797T>G
dbSNP
7g.116783338T>ACA368991506METc.*1272T>A (n.*1272T>A)
c.3721T>A (p.Phe1241Ile)
c.3667T>A (p.Phe1223Ile)
c.2377T>A (p.Phe793Ile)
c.3724T>A (p.Phe1242Ile)
n.3798T>A
7g.116783338T>CCA368991508METc.*1272T>C (n.*1272T>C)
c.3721T>C (p.Phe1241Leu)
c.3667T>C (p.Phe1223Leu)
c.2377T>C (p.Phe793Leu)
c.3724T>C (p.Phe1242Leu)
n.3798T>C
dbSNP
7g.116783338T>GCA368991509METc.*1272T>G (n.*1272T>G)
c.3721T>G (p.Phe1241Val)
c.3667T>G (p.Phe1223Val)
c.2377T>G (p.Phe793Val)
c.3724T>G (p.Phe1242Val)
n.3798T>G
7g.116783339T>ACA368991514METc.*1273T>A (n.*1273T>A)
c.3722T>A (p.Phe1241Tyr)
c.3668T>A (p.Phe1223Tyr)
c.2378T>A (p.Phe793Tyr)
c.3725T>A (p.Phe1242Tyr)
n.3799T>A
dbSNP
7g.116783339T>CCA368991511METc.*1273T>C (n.*1273T>C)
c.3722T>C (p.Phe1241Ser)
c.3668T>C (p.Phe1223Ser)
c.2378T>C (p.Phe793Ser)
c.3725T>C (p.Phe1242Ser)
n.3799T>C
7g.116783339T>GCA368991512METc.*1273T>G (n.*1273T>G)
c.3722T>G (p.Phe1241Cys)
c.3668T>G (p.Phe1223Cys)
c.2378T>G (p.Phe793Cys)
c.3725T>G (p.Phe1242Cys)
n.3799T>G
7g.116783340T>ACA368991516METc.*1274T>A (n.*1274T>A)
c.3723T>A (p.Phe1241Leu)
c.3669T>A (p.Phe1223Leu)
c.2379T>A (p.Phe793Leu)
c.3726T>A (p.Phe1242Leu)
n.3800T>A
7g.116783340T>CCA457219425METc.*1274T>C (n.*1274T>C)
c.3723T>C (p.Phe1241=)
c.3669T>C (p.Phe1223=)
c.2379T>C (p.Phe793=)
c.3726T>C (p.Phe1242=)
n.3800T>C
gnomAD v4
7g.116783340T>GCA368991518METc.*1274T>G (n.*1274T>G)
c.3723T>G (p.Phe1241Leu)
c.3669T>G (p.Phe1223Leu)
c.2379T>G (p.Phe793Leu)
c.3726T>G (p.Phe1242Leu)
n.3800T>G
7g.116783341G>ACA368991521METc.*1275G>A (n.*1275G>A)
c.3724G>A (p.Gly1242Ser)
c.3670G>A (p.Gly1224Ser)
c.2380G>A (p.Gly794Ser)
c.3727G>A (p.Gly1243Ser)
n.3801G>A
dbSNP
7g.116783341G>CCA368991522METc.*1275G>C (n.*1275G>C)
c.3724G>C (p.Gly1242Arg)
c.3670G>C (p.Gly1224Arg)
c.2380G>C (p.Gly794Arg)
c.3727G>C (p.Gly1243Arg)
n.3801G>C
dbSNP
7g.116783341G>TCA368991523METc.*1275G>T (n.*1275G>T)
c.3724G>T (p.Gly1242Cys)
c.3670G>T (p.Gly1224Cys)
c.2380G>T (p.Gly794Cys)
c.3727G>T (p.Gly1243Cys)
n.3801G>T
dbSNP
7g.116783342G>ACA368991525METc.*1276G>A (n.*1276G>A)
c.3725G>A (p.Gly1242Asp)
c.3671G>A (p.Gly1224Asp)
c.2381G>A (p.Gly794Asp)
c.3728G>A (p.Gly1243Asp)
n.3802G>A
dbSNP
7g.116783342G>CCA368991527METc.*1276G>C (n.*1276G>C)
c.3725G>C (p.Gly1242Ala)
c.3671G>C (p.Gly1224Ala)
c.2381G>C (p.Gly794Ala)
c.3728G>C (p.Gly1243Ala)
n.3802G>C
dbSNP COSMIC
7g.116783342G>TCA368991528METc.*1276G>T (n.*1276G>T)
c.3725G>T (p.Gly1242Val)
c.3671G>T (p.Gly1224Val)
c.2381G>T (p.Gly794Val)
c.3728G>T (p.Gly1243Val)
n.3802G>T
dbSNP
7g.116783343T>ACA457219427METc.*1277T>A (n.*1277T>A)
c.3726T>A (p.Gly1242=)
c.3672T>A (p.Gly1224=)
c.2382T>A (p.Gly794=)
c.3729T>A (p.Gly1243=)
n.3803T>A
dbSNP
7g.116783343T>CCA4448763METc.*1277T>C (n.*1277T>C)
c.3726T>C (p.Gly1242=)
c.3672T>C (p.Gly1224=)
c.2382T>C (p.Gly794=)
c.3729T>C (p.Gly1243=)
n.3803T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783343T>GCA457219428METc.*1277T>G (n.*1277T>G)
c.3726T>G (p.Gly1242=)
c.3672T>G (p.Gly1224=)
c.2382T>G (p.Gly794=)
c.3729T>G (p.Gly1243=)
n.3803T>G
gnomAD v4
7g.116783343T=CA1737014290METc.*1277T= (n.*1277T=)
c.3726T= (p.Gly1242=)
c.3672T= (p.Gly1224=)
c.2382T= (p.Gly794=)
c.3729T= (p.Gly1243=)
n.3803T=
7g.116783344C>ACA368991530METc.*1278C>A (n.*1278C>A)
c.3727C>A (p.Leu1243Ile)
c.3673C>A (p.Leu1225Ile)
c.2383C>A (p.Leu795Ile)
c.3730C>A (p.Leu1244Ile)
n.3804C>A
dbSNP
7g.116783344C>GCA368991532METc.*1278C>G (n.*1278C>G)
c.3727C>G (p.Leu1243Val)
c.3673C>G (p.Leu1225Val)
c.2383C>G (p.Leu795Val)
c.3730C>G (p.Leu1244Val)
n.3804C>G
dbSNP
7g.116783344C>TCA368991533METc.*1278C>T (n.*1278C>T)
c.3727C>T (p.Leu1243Phe)
c.3673C>T (p.Leu1225Phe)
c.2383C>T (p.Leu795Phe)
c.3730C>T (p.Leu1244Phe)
n.3804C>T
dbSNP
7g.116783345T>ACA368991539METc.*1279T>A (n.*1279T>A)
c.3728T>A (p.Leu1243His)
c.3674T>A (p.Leu1225His)
c.2384T>A (p.Leu795His)
c.3731T>A (p.Leu1244His)
n.3805T>A
dbSNP
7g.116783345T>CCA368991537METc.*1279T>C (n.*1279T>C)
c.3728T>C (p.Leu1243Pro)
c.3674T>C (p.Leu1225Pro)
c.2384T>C (p.Leu795Pro)
c.3731T>C (p.Leu1244Pro)
n.3805T>C
gnomAD v4
7g.116783345T>GCA368991535METc.*1279T>G (n.*1279T>G)
c.3728T>G (p.Leu1243Arg)
c.3674T>G (p.Leu1225Arg)
c.2384T>G (p.Leu795Arg)
c.3731T>G (p.Leu1244Arg)
n.3805T>G
7g.116783346T>ACA457219431METc.*1280T>A (n.*1280T>A)
c.3729T>A (p.Leu1243=)
c.3675T>A (p.Leu1225=)
c.2385T>A (p.Leu795=)
c.3732T>A (p.Leu1244=)
n.3806T>A
dbSNP gnomAD v4
7g.116783346T>CCA457219432METc.*1280T>C (n.*1280T>C)
c.3729T>C (p.Leu1243=)
c.3675T>C (p.Leu1225=)
c.2385T>C (p.Leu795=)
c.3732T>C (p.Leu1244=)
n.3806T>C
7g.116783346T>GCA457219433METc.*1280T>G (n.*1280T>G)
c.3729T>G (p.Leu1243=)
c.3675T>G (p.Leu1225=)
c.2385T>G (p.Leu795=)
c.3732T>G (p.Leu1244=)
n.3806T>G
7g.116783347G>ACA368991540METc.*1281G>A (n.*1281G>A)
c.3730G>A (p.Ala1244Thr)
c.3676G>A (p.Ala1226Thr)
c.2386G>A (p.Ala796Thr)
c.3733G>A (p.Ala1245Thr)
n.3807G>A
gnomAD v4
7g.116783347G>CCA368991541METc.*1281G>C (n.*1281G>C)
c.3730G>C (p.Ala1244Pro)
c.3676G>C (p.Ala1226Pro)
c.2386G>C (p.Ala796Pro)
c.3733G>C (p.Ala1245Pro)
n.3807G>C
7g.116783347G>TCA368991543METc.*1281G>T (n.*1281G>T)
c.3730G>T (p.Ala1244Ser)
c.3676G>T (p.Ala1226Ser)
c.2386G>T (p.Ala796Ser)
c.3733G>T (p.Ala1245Ser)
n.3807G>T
7g.116783348C>ACA368991546METc.*1282C>A (n.*1282C>A)
c.3731C>A (p.Ala1244Asp)
c.3677C>A (p.Ala1226Asp)
c.2387C>A (p.Ala796Asp)
c.3734C>A (p.Ala1245Asp)
n.3808C>A
dbSNP
7g.116783348C>GCA368991547METc.*1282C>G (n.*1282C>G)
c.3731C>G (p.Ala1244Gly)
c.3677C>G (p.Ala1226Gly)
c.2387C>G (p.Ala796Gly)
c.3734C>G (p.Ala1245Gly)
n.3808C>G
dbSNP
7g.116783348C>TCA368991550METc.*1282C>T (n.*1282C>T)
c.3731C>T (p.Ala1244Val)
c.3677C>T (p.Ala1226Val)
c.2387C>T (p.Ala796Val)
c.3734C>T (p.Ala1245Val)
n.3808C>T
dbSNP
7g.116783349dupCA645567317METc.*1283dup (n.*1283dup)
c.3732dup (p.Arg1245GlnfsTer5)
c.3678dup (p.Arg1227GlnfsTer5)
c.2388dup (p.Arg797GlnfsTer5)
c.3735dup (p.Arg1246GlnfsTer5)
n.3809dup
COSMIC
7g.116783349C>ACA457219434METc.*1283C>A (n.*1283C>A)
c.3732C>A (p.Ala1244=)
c.3678C>A (p.Ala1226=)
c.2388C>A (p.Ala796=)
c.3735C>A (p.Ala1245=)
n.3809C>A
dbSNP
7g.116783349C=CA1737014309METc.*1283C= (n.*1283C=)
c.3732C= (p.Ala1244=)
c.3678C= (p.Ala1226=)
c.2388C= (p.Ala796=)
c.3735C= (p.Ala1245=)
n.3809C=
7g.116783349C>GCA457219435METc.*1283C>G (n.*1283C>G)
c.3732C>G (p.Ala1244=)
c.3678C>G (p.Ala1226=)
c.2388C>G (p.Ala796=)
c.3735C>G (p.Ala1245=)
n.3809C>G
dbSNP
7g.116783349C>TCA457219437METc.*1283C>T (n.*1283C>T)
c.3732C>T (p.Ala1244=)
c.3678C>T (p.Ala1226=)
c.2388C>T (p.Ala796=)
c.3735C>T (p.Ala1245=)
n.3809C>T
ClinVar dbSNP gnomAD v4
7g.116783350A>CCA457219439METc.*1284A>C (n.*1284A>C)
c.3733A>C (p.Arg1245=)
c.3679A>C (p.Arg1227=)
c.2389A>C (p.Arg797=)
c.3736A>C (p.Arg1246=)
n.3810A>C
7g.116783350A>GCA368991551METc.*1284A>G (n.*1284A>G)
c.3733A>G (p.Arg1245Gly)
c.3679A>G (p.Arg1227Gly)
c.2389A>G (p.Arg797Gly)
c.3736A>G (p.Arg1246Gly)
n.3810A>G
ClinVar dbSNP
7g.116783350A>TCA368991552METc.*1284A>T (n.*1284A>T)
c.3733A>T (p.Arg1245Ter)
c.3679A>T (p.Arg1227Ter)
c.2389A>T (p.Arg797Ter)
c.3736A>T (p.Arg1246Ter)
n.3810A>T
dbSNP
7g.116783351G>ACA368991555METc.*1285G>A (n.*1285G>A)
c.3734G>A (p.Arg1245Lys)
c.3680G>A (p.Arg1227Lys)
c.2390G>A (p.Arg797Lys)
c.3737G>A (p.Arg1246Lys)
n.3811G>A
dbSNP gnomAD v4
7g.116783351G>CCA368991556METc.*1285G>C (n.*1285G>C)
c.3734G>C (p.Arg1245Thr)
c.3680G>C (p.Arg1227Thr)
c.2390G>C (p.Arg797Thr)
c.3737G>C (p.Arg1246Thr)
n.3811G>C
dbSNP
7g.116783351G>TCA368991558METc.*1285G>T (n.*1285G>T)
c.3734G>T (p.Arg1245Ile)
c.3680G>T (p.Arg1227Ile)
c.2390G>T (p.Arg797Ile)
c.3737G>T (p.Arg1246Ile)
n.3811G>T
7g.116783352A>CCA368991560METc.*1286A>C (n.*1286A>C)
c.3735A>C (p.Arg1245Ser)
c.3681A>C (p.Arg1227Ser)
c.2391A>C (p.Arg797Ser)
c.3738A>C (p.Arg1246Ser)
n.3812A>C
7g.116783352A>GCA457219441METc.*1286A>G (n.*1286A>G)
c.3735A>G (p.Arg1245=)
c.3681A>G (p.Arg1227=)
c.2391A>G (p.Arg797=)
c.3738A>G (p.Arg1246=)
n.3812A>G
dbSNP
7g.116783352A>TCA368991561METc.*1286A>T (n.*1286A>T)
c.3735A>T (p.Arg1245Ser)
c.3681A>T (p.Arg1227Ser)
c.2391A>T (p.Arg797Ser)
c.3738A>T (p.Arg1246Ser)
n.3812A>T
dbSNP
7g.116783353G>ACA257000METc.*1287G>A (n.*1287G>A)
c.3736G>A (p.Asp1246Asn)
c.3682G>A (p.Asp1228Asn)
c.2392G>A (p.Asp798Asn)
c.3739G>A (p.Asp1247Asn)
n.3813G>A
ClinVar dbSNP COSMIC
7g.116783353G>CCA16603136METc.*1287G>C (n.*1287G>C)
c.3736G>C (p.Asp1246His)
c.3682G>C (p.Asp1228His)
c.2392G>C (p.Asp798His)
c.3739G>C (p.Asp1247His)
n.3813G>C
ClinVar dbSNP COSMIC
7g.116783353G=CA1737014319METc.*1287G= (n.*1287G=)
c.3736G= (p.Asp1246=)
c.3682G= (p.Asp1228=)
c.2392G= (p.Asp798=)
c.3739G= (p.Asp1247=)
n.3813G=
7g.116783353G>TCA368991564METc.*1287G>T (n.*1287G>T)
c.3736G>T (p.Asp1246Tyr)
c.3682G>T (p.Asp1228Tyr)
c.2392G>T (p.Asp798Tyr)
c.3739G>T (p.Asp1247Tyr)
n.3813G>T
ClinVar dbSNP gnomAD v4
7g.116783354A>CCA368991567METc.*1288A>C (n.*1288A>C)
c.3737A>C (p.Asp1246Ala)
c.3683A>C (p.Asp1228Ala)
c.2393A>C (p.Asp798Ala)
c.3740A>C (p.Asp1247Ala)
n.3814A>C
dbSNP
7g.116783354A>GCA368991569METc.*1288A>G (n.*1288A>G)
c.3737A>G (p.Asp1246Gly)
c.3683A>G (p.Asp1228Gly)
c.2393A>G (p.Asp798Gly)
c.3740A>G (p.Asp1247Gly)
n.3814A>G
7g.116783354A>TCA368991571METc.*1288A>T (n.*1288A>T)
c.3737A>T (p.Asp1246Val)
c.3683A>T (p.Asp1228Val)
c.2393A>T (p.Asp798Val)
c.3740A>T (p.Asp1247Val)
n.3814A>T
dbSNP gnomAD v4 COSMIC
7g.116783355C>ACA368991573METc.*1289C>A (n.*1289C>A)
c.3738C>A (p.Asp1246Glu)
c.3684C>A (p.Asp1228Glu)
c.2394C>A (p.Asp798Glu)
c.3741C>A (p.Asp1247Glu)
n.3815C>A
gnomAD v4
7g.116783355C=CA1737014335METc.*1289C= (n.*1289C=)
c.3738C= (p.Asp1246=)
c.3684C= (p.Asp1228=)
c.2394C= (p.Asp798=)
c.3741C= (p.Asp1247=)
n.3815C=
7g.116783355C>GCA368991575METc.*1289C>G (n.*1289C>G)
c.3738C>G (p.Asp1246Glu)
c.3684C>G (p.Asp1228Glu)
c.2394C>G (p.Asp798Glu)
c.3741C>G (p.Asp1247Glu)
n.3815C>G
ClinVar dbSNP
7g.116783355C>TCA189668METc.*1289C>T (n.*1289C>T)
c.3738C>T (p.Asp1246=)
c.3684C>T (p.Asp1228=)
c.2394C>T (p.Asp798=)
c.3741C>T (p.Asp1247=)
n.3815C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.116783356A=CA1737014360METc.*1290A= (n.*1290A=)
c.3739A= (p.Met1247=)
c.3685A= (p.Met1229=)
c.2395A= (p.Met799=)
c.3742A= (p.Met1248=)
n.3816A=
7g.116783356A>CCA368991578METc.*1290A>C (n.*1290A>C)
c.3739A>C (p.Met1247Leu)
c.3685A>C (p.Met1229Leu)
c.2395A>C (p.Met799Leu)
c.3742A>C (p.Met1248Leu)
n.3816A>C
7g.116783356A>GCA4448764METc.*1290A>G (n.*1290A>G)
c.3739A>G (p.Met1247Val)
c.3685A>G (p.Met1229Val)
c.2395A>G (p.Met799Val)
c.3742A>G (p.Met1248Val)
n.3816A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783356A>TCA368991580METc.*1290A>T (n.*1290A>T)
c.3739A>T (p.Met1247Leu)
c.3685A>T (p.Met1229Leu)
c.2395A>T (p.Met799Leu)
c.3742A>T (p.Met1248Leu)
n.3816A>T
dbSNP
7g.116783357T>ACA368991582METc.*1291T>A (n.*1291T>A)
c.3740T>A (p.Met1247Lys)
c.3686T>A (p.Met1229Lys)
c.2396T>A (p.Met799Lys)
c.3743T>A (p.Met1248Lys)
n.3817T>A
7g.116783357T>CCA368991584METc.*1291T>C (n.*1291T>C)
c.3740T>C (p.Met1247Thr)
c.3686T>C (p.Met1229Thr)
c.2396T>C (p.Met799Thr)
c.3743T>C (p.Met1248Thr)
n.3817T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.116783357T>GCA368991586METc.*1291T>G (n.*1291T>G)
c.3740T>G (p.Met1247Arg)
c.3686T>G (p.Met1229Arg)
c.2396T>G (p.Met799Arg)
c.3743T>G (p.Met1248Arg)
n.3817T>G
dbSNP
7g.116783357T=CA1737014368METc.*1291T= (n.*1291T=)
c.3740T= (p.Met1247=)
c.3686T= (p.Met1229=)
c.2396T= (p.Met799=)
c.3743T= (p.Met1248=)
n.3817T=
7g.116783358G>ACA368991591METc.*1292G>A (n.*1292G>A)
c.3741G>A (p.Met1247Ile)
c.3687G>A (p.Met1229Ile)
c.2397G>A (p.Met799Ile)
c.3744G>A (p.Met1248Ile)
n.3818G>A
ClinVar dbSNP gnomAD v4
7g.116783358G>CCA368991590METc.*1292G>C (n.*1292G>C)
c.3741G>C (p.Met1247Ile)
c.3687G>C (p.Met1229Ile)
c.2397G>C (p.Met799Ile)
c.3744G>C (p.Met1248Ile)
n.3818G>C
dbSNP
7g.116783358G=CA1737014376METc.*1292G= (n.*1292G=)
c.3741G= (p.Met1247=)
c.3687G= (p.Met1229=)
c.2397G= (p.Met799=)
c.3744G= (p.Met1248=)
n.3818G=
7g.116783358G>TCA368991588METc.*1292G>T (n.*1292G>T)
c.3741G>T (p.Met1247Ile)
c.3687G>T (p.Met1229Ile)
c.2397G>T (p.Met799Ile)
c.3744G>T (p.Met1248Ile)
n.3818G>T
dbSNP
7g.116783359T>ACA368991593METc.*1293T>A (n.*1293T>A)
c.3742T>A (p.Tyr1248Asn)
c.3688T>A (p.Tyr1230Asn)
c.2398T>A (p.Tyr800Asn)
c.3745T>A (p.Tyr1249Asn)
n.3819T>A
dbSNP
7g.116783359T>CCA241164METc.*1293T>C (n.*1293T>C)
c.3742T>C (p.Tyr1248His)
c.3688T>C (p.Tyr1230His)
c.2398T>C (p.Tyr800His)
c.3745T>C (p.Tyr1249His)
n.3819T>C
ClinVar dbSNP COSMIC
7g.116783359T>GCA368991595METc.*1293T>G (n.*1293T>G)
c.3742T>G (p.Tyr1248Asp)
c.3688T>G (p.Tyr1230Asp)
c.2398T>G (p.Tyr800Asp)
c.3745T>G (p.Tyr1249Asp)
n.3819T>G
ClinVar dbSNP gnomAD v4
7g.116783359T=CA1737014380METc.*1293T= (n.*1293T=)
c.3742T= (p.Tyr1248=)
c.3688T= (p.Tyr1230=)
c.2398T= (p.Tyr800=)
c.3745T= (p.Tyr1249=)
n.3819T=
7g.116783360A=CA1737014383METc.*1294A= (n.*1294A=)
c.3743A= (p.Tyr1248=)
c.3689A= (p.Tyr1230=)
c.2399A= (p.Tyr800=)
c.3746A= (p.Tyr1249=)
n.3820A=
7g.116783360A>CCA368991597METc.*1294A>C (n.*1294A>C)
c.3743A>C (p.Tyr1248Ser)
c.3689A>C (p.Tyr1230Ser)
c.2399A>C (p.Tyr800Ser)
c.3746A>C (p.Tyr1249Ser)
n.3820A>C
7g.116783360A>GCA257003METc.*1294A>G (n.*1294A>G)
c.3743A>G (p.Tyr1248Cys)
c.3689A>G (p.Tyr1230Cys)
c.2399A>G (p.Tyr800Cys)
c.3746A>G (p.Tyr1249Cys)
n.3820A>G
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.116783360A>TCA368991598METc.*1294A>T (n.*1294A>T)
c.3743A>T (p.Tyr1248Phe)
c.3689A>T (p.Tyr1230Phe)
c.2399A>T (p.Tyr800Phe)
c.3746A>T (p.Tyr1249Phe)
n.3820A>T
dbSNP
7g.116783361T>ACA368991600METc.*1295T>A (n.*1295T>A)
c.3744T>A (p.Tyr1248Ter)
c.3690T>A (p.Tyr1230Ter)
c.2400T>A (p.Tyr800Ter)
c.3747T>A (p.Tyr1249Ter)
n.3821T>A
dbSNP
7g.116783361T>CCA457219448METc.*1295T>C (n.*1295T>C)
c.3744T>C (p.Tyr1248=)
c.3690T>C (p.Tyr1230=)
c.2400T>C (p.Tyr800=)
c.3747T>C (p.Tyr1249=)
n.3821T>C
ClinVar dbSNP
7g.116783361T>GCA368991602METc.*1295T>G (n.*1295T>G)
c.3744T>G (p.Tyr1248Ter)
c.3690T>G (p.Tyr1230Ter)
c.2400T>G (p.Tyr800Ter)
c.3747T>G (p.Tyr1249Ter)
n.3821T>G
7g.116783361T=CA1737014392METc.*1295T= (n.*1295T=)
c.3744T= (p.Tyr1248=)
c.3690T= (p.Tyr1230=)
c.2400T= (p.Tyr800=)
c.3747T= (p.Tyr1249=)
n.3821T=
7g.116783362G>ACA368991603METc.*1296G>A (n.*1296G>A)
c.3745G>A (p.Asp1249Asn)
c.3691G>A (p.Asp1231Asn)
c.2401G>A (p.Asp801Asn)
c.3748G>A (p.Asp1250Asn)
n.3822G>A
ClinVar dbSNP gnomAD v4 COSMIC
7g.116783362G>CCA368991604METc.*1296G>C (n.*1296G>C)
c.3745G>C (p.Asp1249His)
c.3691G>C (p.Asp1231His)
c.2401G>C (p.Asp801His)
c.3748G>C (p.Asp1250His)
n.3822G>C
7g.116783362G=CA1737014397METc.*1296G= (n.*1296G=)
c.3745G= (p.Asp1249=)
c.3691G= (p.Asp1231=)
c.2401G= (p.Asp801=)
c.3748G= (p.Asp1250=)
n.3822G=
7g.116783362G>TCA368991606METc.*1296G>T (n.*1296G>T)
c.3745G>T (p.Asp1249Tyr)
c.3691G>T (p.Asp1231Tyr)
c.2401G>T (p.Asp801Tyr)
c.3748G>T (p.Asp1250Tyr)
n.3822G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.116783363A=CA1737014402METc.*1297A= (n.*1297A=)
c.3746A= (p.Asp1249=)
c.3692A= (p.Asp1231=)
c.2402A= (p.Asp801=)
c.3749A= (p.Asp1250=)
n.3823A=
7g.116783363A>CCA368991607METc.*1297A>C (n.*1297A>C)
c.3746A>C (p.Asp1249Ala)
c.3692A>C (p.Asp1231Ala)
c.2402A>C (p.Asp801Ala)
c.3749A>C (p.Asp1250Ala)
n.3823A>C
7g.116783363A>GCA368991608METc.*1297A>G (n.*1297A>G)
c.3746A>G (p.Asp1249Gly)
c.3692A>G (p.Asp1231Gly)
c.2402A>G (p.Asp801Gly)
c.3749A>G (p.Asp1250Gly)
n.3823A>G
ClinVar gnomAD v4
7g.116783363A>TCA368991609METc.*1297A>T (n.*1297A>T)
c.3746A>T (p.Asp1249Val)
c.3692A>T (p.Asp1231Val)
c.2402A>T (p.Asp801Val)
c.3749A>T (p.Asp1250Val)
n.3823A>T
ClinVar dbSNP gnomAD v4
7g.116783364T>ACA368991611METc.*1298T>A (n.*1298T>A)
c.3747T>A (p.Asp1249Glu)
c.3693T>A (p.Asp1231Glu)
c.2403T>A (p.Asp801Glu)
c.3750T>A (p.Asp1250Glu)
n.3824T>A
7g.116783364T>CCA457219451METc.*1298T>C (n.*1298T>C)
c.3747T>C (p.Asp1249=)
c.3693T>C (p.Asp1231=)
c.2403T>C (p.Asp801=)
c.3750T>C (p.Asp1250=)
n.3824T>C
gnomAD v4
7g.116783364T>GCA368991613METc.*1298T>G (n.*1298T>G)
c.3747T>G (p.Asp1249Glu)
c.3693T>G (p.Asp1231Glu)
c.2403T>G (p.Asp801Glu)
c.3750T>G (p.Asp1250Glu)
n.3824T>G
7g.116783365A>CCA368991617METc.*1299A>C (n.*1299A>C)
c.3748A>C (p.Lys1250Gln)
c.3694A>C (p.Lys1232Gln)
c.2404A>C (p.Lys802Gln)
c.3751A>C (p.Lys1251Gln)
n.3825A>C
7g.116783365A>GCA368991616METc.*1299A>G (n.*1299A>G)
c.3748A>G (p.Lys1250Glu)
c.3694A>G (p.Lys1232Glu)
c.2404A>G (p.Lys802Glu)
c.3751A>G (p.Lys1251Glu)
n.3825A>G
7g.116783365A>TCA368991615METc.*1299A>T (n.*1299A>T)
c.3748A>T (p.Lys1250Ter)
c.3694A>T (p.Lys1232Ter)
c.2404A>T (p.Lys802Ter)
c.3751A>T (p.Lys1251Ter)
n.3825A>T
7g.116783366A>CCA368991620METc.*1300A>C (n.*1300A>C)
c.3749A>C (p.Lys1250Thr)
c.3695A>C (p.Lys1232Thr)
c.2405A>C (p.Lys802Thr)
c.3752A>C (p.Lys1251Thr)
n.3826A>C
7g.116783366A>GCA368991621METc.*1300A>G (n.*1300A>G)
c.3749A>G (p.Lys1250Arg)
c.3695A>G (p.Lys1232Arg)
c.2405A>G (p.Lys802Arg)
c.3752A>G (p.Lys1251Arg)
n.3826A>G
7g.116783366A>TCA368991623METc.*1300A>T (n.*1300A>T)
c.3749A>T (p.Lys1250Ile)
c.3695A>T (p.Lys1232Ile)
c.2405A>T (p.Lys802Ile)
c.3752A>T (p.Lys1251Ile)
n.3826A>T
7g.116783367A>CCA368991625METc.*1301A>C (n.*1301A>C)
c.3750A>C (p.Lys1250Asn)
c.3696A>C (p.Lys1232Asn)
c.2406A>C (p.Lys802Asn)
c.3753A>C (p.Lys1251Asn)
n.3827A>C
7g.116783367A>GCA457219452METc.*1301A>G (n.*1301A>G)
c.3750A>G (p.Lys1250=)
c.3696A>G (p.Lys1232=)
c.2406A>G (p.Lys802=)
c.3753A>G (p.Lys1251=)
n.3827A>G
dbSNP
7g.116783367A>TCA368991627METc.*1301A>T (n.*1301A>T)
c.3750A>T (p.Lys1250Asn)
c.3696A>T (p.Lys1232Asn)
c.2406A>T (p.Lys802Asn)
c.3753A>T (p.Lys1251Asn)
n.3827A>T
7g.116783368G>ACA368991629METc.*1302G>A (n.*1302G>A)
c.3751G>A (p.Glu1251Lys)
c.3697G>A (p.Glu1233Lys)
c.2407G>A (p.Glu803Lys)
c.3754G>A (p.Glu1252Lys)
n.3828G>A
dbSNP
7g.116783368G>CCA368991631METc.*1302G>C (n.*1302G>C)
c.3751G>C (p.Glu1251Gln)
c.3697G>C (p.Glu1233Gln)
c.2407G>C (p.Glu803Gln)
c.3754G>C (p.Glu1252Gln)
n.3828G>C
dbSNP
7g.116783368G>TCA368991632METc.*1302G>T (n.*1302G>T)
c.3751G>T (p.Glu1251Ter)
c.3697G>T (p.Glu1233Ter)
c.2407G>T (p.Glu803Ter)
c.3754G>T (p.Glu1252Ter)
n.3828G>T
7g.116783369A>CCA368991634METc.*1303A>C (n.*1303A>C)
c.3752A>C (p.Glu1251Ala)
c.3698A>C (p.Glu1233Ala)
c.2408A>C (p.Glu803Ala)
c.3755A>C (p.Glu1252Ala)
n.3829A>C
7g.116783369A>GCA368991636METc.*1303A>G (n.*1303A>G)
c.3752A>G (p.Glu1251Gly)
c.3698A>G (p.Glu1233Gly)
c.2408A>G (p.Glu803Gly)
c.3755A>G (p.Glu1252Gly)
n.3829A>G
7g.116783369A>TCA368991638METc.*1303A>T (n.*1303A>T)
c.3752A>T (p.Glu1251Val)
c.3698A>T (p.Glu1233Val)
c.2408A>T (p.Glu803Val)
c.3755A>T (p.Glu1252Val)
n.3829A>T
7g.116783370A>CCA368991640METc.*1304A>C (n.*1304A>C)
c.3753A>C (p.Glu1251Asp)
c.3699A>C (p.Glu1233Asp)
c.2409A>C (p.Glu803Asp)
c.3756A>C (p.Glu1252Asp)
n.3830A>C
7g.116783370A>GCA457219454METc.*1304A>G (n.*1304A>G)
c.3753A>G (p.Glu1251=)
c.3699A>G (p.Glu1233=)
c.2409A>G (p.Glu803=)
c.3756A>G (p.Glu1252=)
n.3830A>G
7g.116783370A>TCA368991641METc.*1304A>T (n.*1304A>T)
c.3753A>T (p.Glu1251Asp)
c.3699A>T (p.Glu1233Asp)
c.2409A>T (p.Glu803Asp)
c.3756A>T (p.Glu1252Asp)
n.3830A>T
7g.116783371T>ACA368991645METc.*1305T>A (n.*1305T>A)
c.3754T>A (p.Tyr1252Asn)
c.3700T>A (p.Tyr1234Asn)
c.2410T>A (p.Tyr804Asn)
c.3757T>A (p.Tyr1253Asn)
n.3831T>A
dbSNP
7g.116783371T>CCA368991646METc.*1305T>C (n.*1305T>C)
c.3754T>C (p.Tyr1252His)
c.3700T>C (p.Tyr1234His)
c.2410T>C (p.Tyr804His)
c.3757T>C (p.Tyr1253His)
n.3831T>C
7g.116783371T>GCA368991643METc.*1305T>G (n.*1305T>G)
c.3754T>G (p.Tyr1252Asp)
c.3700T>G (p.Tyr1234Asp)
c.2410T>G (p.Tyr804Asp)
c.3757T>G (p.Tyr1253Asp)
n.3831T>G
7g.116783372A=CA1737014413METc.*1306A= (n.*1306A=)
c.3755A= (p.Tyr1252=)
c.3701A= (p.Tyr1234=)
c.2411A= (p.Tyr804=)
c.3758A= (p.Tyr1253=)
n.3832A=
7g.116783372A>CCA368991648METc.*1306A>C (n.*1306A>C)
c.3755A>C (p.Tyr1252Ser)
c.3701A>C (p.Tyr1234Ser)
c.2411A>C (p.Tyr804Ser)
c.3758A>C (p.Tyr1253Ser)
n.3832A>C
dbSNP
7g.116783372A>GCA368991650METc.*1306A>G (n.*1306A>G)
c.3755A>G (p.Tyr1252Cys)
c.3701A>G (p.Tyr1234Cys)
c.2411A>G (p.Tyr804Cys)
c.3758A>G (p.Tyr1253Cys)
n.3832A>G
ClinVar dbSNP gnomAD v4
7g.116783372A>TCA368991651METc.*1306A>T (n.*1306A>T)
c.3755A>T (p.Tyr1252Phe)
c.3701A>T (p.Tyr1234Phe)
c.2411A>T (p.Tyr804Phe)
c.3758A>T (p.Tyr1253Phe)
n.3832A>T
dbSNP
7g.116783373C>ACA368991653METc.*1307C>A (n.*1307C>A)
c.3756C>A (p.Tyr1252Ter)
c.3702C>A (p.Tyr1234Ter)
c.2412C>A (p.Tyr804Ter)
c.3759C>A (p.Tyr1253Ter)
n.3833C>A
dbSNP
7g.116783373C=CA1737014423METc.*1307C= (n.*1307C=)
c.3756C= (p.Tyr1252=)
c.3702C= (p.Tyr1234=)
c.2412C= (p.Tyr804=)
c.3759C= (p.Tyr1253=)
n.3833C=
7g.116783373C>GCA368991654METc.*1307C>G (n.*1307C>G)
c.3756C>G (p.Tyr1252Ter)
c.3702C>G (p.Tyr1234Ter)
c.2412C>G (p.Tyr804Ter)
c.3759C>G (p.Tyr1253Ter)
n.3833C>G
dbSNP
7g.116783373C>TCA4448765METc.*1307C>T (n.*1307C>T)
c.3756C>T (p.Tyr1252=)
c.3702C>T (p.Tyr1234=)
c.2412C>T (p.Tyr804=)
c.3759C>T (p.Tyr1253=)
n.3833C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.116783374T>ACA368991657METc.*1308T>A (n.*1308T>A)
c.3757T>A (p.Tyr1253Asn)
c.3703T>A (p.Tyr1235Asn)
c.2413T>A (p.Tyr805Asn)
c.3760T>A (p.Tyr1254Asn)
n.3834T>A
dbSNP
7g.116783374T>CCA368991658METc.*1308T>C (n.*1308T>C)
c.3757T>C (p.Tyr1253His)
c.3703T>C (p.Tyr1235His)
c.2413T>C (p.Tyr805His)
c.3760T>C (p.Tyr1254His)
n.3834T>C
dbSNP COSMIC
7g.116783374T>GCA16602655METc.*1308T>G (n.*1308T>G)
c.3757T>G (p.Tyr1253Asp)
c.3703T>G (p.Tyr1235Asp)
c.2413T>G (p.Tyr805Asp)
c.3760T>G (p.Tyr1254Asp)
n.3834T>G
ClinVar dbSNP COSMIC
7g.116783374T=CA1737014432METc.*1308T= (n.*1308T=)
c.3757T= (p.Tyr1253=)
c.3703T= (p.Tyr1235=)
c.2413T= (p.Tyr805=)
c.3760T= (p.Tyr1254=)
n.3834T=
7g.116783375A>CCA368991659METc.*1309A>C (n.*1309A>C)
c.3758A>C (p.Tyr1253Ser)
c.3704A>C (p.Tyr1235Ser)
c.2414A>C (p.Tyr805Ser)
c.3761A>C (p.Tyr1254Ser)
n.3835A>C
7g.116783375A>GCA368991661METc.*1309A>G (n.*1309A>G)
c.3758A>G (p.Tyr1253Cys)
c.3704A>G (p.Tyr1235Cys)
c.2414A>G (p.Tyr805Cys)
c.3761A>G (p.Tyr1254Cys)
n.3835A>G
ClinVar
7g.116783375A>TCA368991663METc.*1309A>T (n.*1309A>T)
c.3758A>T (p.Tyr1253Phe)
c.3704A>T (p.Tyr1235Phe)
c.2414A>T (p.Tyr805Phe)
c.3761A>T (p.Tyr1254Phe)
n.3835A>T
dbSNP
7g.116783376T>ACA368991666METc.*1310T>A (n.*1310T>A)
c.3759T>A (p.Tyr1253Ter)
c.3705T>A (p.Tyr1235Ter)
c.2415T>A (p.Tyr805Ter)
c.3762T>A (p.Tyr1254Ter)
n.3836T>A
dbSNP
7g.116783376T>CCA4448766METc.*1310T>C (n.*1310T>C)
c.3759T>C (p.Tyr1253=)
c.3705T>C (p.Tyr1235=)
c.2415T>C (p.Tyr805=)
c.3762T>C (p.Tyr1254=)
n.3836T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783376T>GCA368991664METc.*1310T>G (n.*1310T>G)
c.3759T>G (p.Tyr1253Ter)
c.3705T>G (p.Tyr1235Ter)
c.2415T>G (p.Tyr805Ter)
c.3762T>G (p.Tyr1254Ter)
n.3836T>G
gnomAD v4
7g.116783376T=CA1737014441METc.*1310T= (n.*1310T=)
c.3759T= (p.Tyr1253=)
c.3705T= (p.Tyr1235=)
c.2415T= (p.Tyr805=)
c.3762T= (p.Tyr1254=)
n.3836T=
7g.116783377A>CCA368991668METc.*1311A>C (n.*1311A>C)
c.3760A>C (p.Ser1254Arg)
c.3706A>C (p.Ser1236Arg)
c.2416A>C (p.Ser806Arg)
c.3763A>C (p.Ser1255Arg)
n.3837A>C
ClinVar
7g.116783377A>GCA368991670METc.*1311A>G (n.*1311A>G)
c.3760A>G (p.Ser1254Gly)
c.3706A>G (p.Ser1236Gly)
c.2416A>G (p.Ser806Gly)
c.3763A>G (p.Ser1255Gly)
n.3837A>G
7g.116783377A>TCA368991671METc.*1311A>T (n.*1311A>T)
c.3760A>T (p.Ser1254Cys)
c.3706A>T (p.Ser1236Cys)
c.2416A>T (p.Ser806Cys)
c.3763A>T (p.Ser1255Cys)
n.3837A>T
dbSNP
7g.116783378G>ACA368991673METc.*1312G>A (n.*1312G>A)
c.3761G>A (p.Ser1254Asn)
c.3707G>A (p.Ser1236Asn)
c.2417G>A (p.Ser806Asn)
c.3764G>A (p.Ser1255Asn)
n.3838G>A
dbSNP
7g.116783378G>CCA368991675METc.*1312G>C (n.*1312G>C)
c.3761G>C (p.Ser1254Thr)
c.3707G>C (p.Ser1236Thr)
c.2417G>C (p.Ser806Thr)
c.3764G>C (p.Ser1255Thr)
n.3838G>C
dbSNP
7g.116783378G>TCA368991676METc.*1312G>T (n.*1312G>T)
c.3761G>T (p.Ser1254Ile)
c.3707G>T (p.Ser1236Ile)
c.2417G>T (p.Ser806Ile)
c.3764G>T (p.Ser1255Ile)
n.3838G>T
7g.116783379T>ACA368991678METc.*1313T>A (n.*1313T>A)
c.3762T>A (p.Ser1254Arg)
c.3708T>A (p.Ser1236Arg)
c.2418T>A (p.Ser806Arg)
c.3765T>A (p.Ser1255Arg)
n.3839T>A
dbSNP COSMIC
7g.116783379T>CCA457219457METc.*1313T>C (n.*1313T>C)
c.3762T>C (p.Ser1254=)
c.3708T>C (p.Ser1236=)
c.2418T>C (p.Ser806=)
c.3765T>C (p.Ser1255=)
n.3839T>C
ClinVar gnomAD v4
7g.116783379T>GCA368991679METc.*1313T>G (n.*1313T>G)
c.3762T>G (p.Ser1254Arg)
c.3708T>G (p.Ser1236Arg)
c.2418T>G (p.Ser806Arg)
c.3765T>G (p.Ser1255Arg)
n.3839T>G
7g.116783380G>ACA164910969METc.*1314G>A (n.*1314G>A)
c.3763G>A (p.Val1255Ile)
c.3709G>A (p.Val1237Ile)
c.2419G>A (p.Val807Ile)
c.3766G>A (p.Val1256Ile)
n.3840G>A
ClinVar dbSNP gnomAD v4
7g.116783380G>CCA368991681METc.*1314G>C (n.*1314G>C)
c.3763G>C (p.Val1255Leu)
c.3709G>C (p.Val1237Leu)
c.2419G>C (p.Val807Leu)
c.3766G>C (p.Val1256Leu)
n.3840G>C
dbSNP
7g.116783380G=CA1737014461METc.*1314G= (n.*1314G=)
c.3763G= (p.Val1255=)
c.3709G= (p.Val1237=)
c.2419G= (p.Val807=)
c.3766G= (p.Val1256=)
n.3840G=
7g.116783380G>TCA368991684METc.*1314G>T (n.*1314G>T)
c.3763G>T (p.Val1255Leu)
c.3709G>T (p.Val1237Leu)
c.2419G>T (p.Val807Leu)
c.3766G>T (p.Val1256Leu)
n.3840G>T
ClinVar
7g.116783381T>ACA368991691METc.*1315T>A (n.*1315T>A)
c.3764T>A (p.Val1255Glu)
c.3710T>A (p.Val1237Glu)
c.2420T>A (p.Val807Glu)
c.3767T>A (p.Val1256Glu)
n.3841T>A
7g.116783381T>CCA368991690METc.*1315T>C (n.*1315T>C)
c.3764T>C (p.Val1255Ala)
c.3710T>C (p.Val1237Ala)
c.2420T>C (p.Val807Ala)
c.3767T>C (p.Val1256Ala)
n.3841T>C
gnomAD v4
7g.116783381T>GCA368991688METc.*1315T>G (n.*1315T>G)
c.3764T>G (p.Val1255Gly)
c.3710T>G (p.Val1237Gly)
c.2420T>G (p.Val807Gly)
c.3767T>G (p.Val1256Gly)
n.3841T>G
7g.116783382A>CCA457219461METc.*1316A>C (n.*1316A>C)
c.3765A>C (p.Val1255=)
c.3711A>C (p.Val1237=)
c.2421A>C (p.Val807=)
c.3768A>C (p.Val1256=)
n.3842A>C
dbSNP
7g.116783382A>GCA457219462METc.*1316A>G (n.*1316A>G)
c.3765A>G (p.Val1255=)
c.3711A>G (p.Val1237=)
c.2421A>G (p.Val807=)
c.3768A>G (p.Val1256=)
n.3842A>G
ClinVar
7g.116783382A>TCA457219463METc.*1316A>T (n.*1316A>T)
c.3765A>T (p.Val1255=)
c.3711A>T (p.Val1237=)
c.2421A>T (p.Val807=)
c.3768A>T (p.Val1256=)
n.3842A>T
dbSNP
7g.116783383C>ACA368991695METc.*1317C>A (n.*1317C>A)
c.3766C>A (p.His1256Asn)
c.3712C>A (p.His1238Asn)
c.2422C>A (p.His808Asn)
c.3769C>A (p.His1257Asn)
n.3843C>A
dbSNP
7g.116783383C>GCA368991693METc.*1317C>G (n.*1317C>G)
c.3766C>G (p.His1256Asp)
c.3712C>G (p.His1238Asp)
c.2422C>G (p.His808Asp)
c.3769C>G (p.His1257Asp)
n.3843C>G
dbSNP
7g.116783383C>TCA368991697METc.*1317C>T (n.*1317C>T)
c.3766C>T (p.His1256Tyr)
c.3712C>T (p.His1238Tyr)
c.2422C>T (p.His808Tyr)
c.3769C>T (p.His1257Tyr)
n.3843C>T
dbSNP
7g.116783384A=CA1737014468METc.*1318A= (n.*1318A=)
c.3767A= (p.His1256=)
c.3713A= (p.His1238=)
c.2423A= (p.His808=)
c.3770A= (p.His1257=)
n.3844A=
7g.116783384A>CCA368991699METc.*1318A>C (n.*1318A>C)
c.3767A>C (p.His1256Pro)
c.3713A>C (p.His1238Pro)
c.2423A>C (p.His808Pro)
c.3770A>C (p.His1257Pro)
n.3844A>C
dbSNP gnomAD v4
7g.116783384A>GCA368991701METc.*1318A>G (n.*1318A>G)
c.3767A>G (p.His1256Arg)
c.3713A>G (p.His1238Arg)
c.2423A>G (p.His808Arg)
c.3770A>G (p.His1257Arg)
n.3844A>G
COSMIC
7g.116783384A>TCA368991704METc.*1318A>T (n.*1318A>T)
c.3767A>T (p.His1256Leu)
c.3713A>T (p.His1238Leu)
c.2423A>T (p.His808Leu)
c.3770A>T (p.His1257Leu)
n.3844A>T
ClinVar dbSNP gnomAD v4
7g.116783385C>ACA368991706METc.*1319C>A (n.*1319C>A)
c.3768C>A (p.His1256Gln)
c.3714C>A (p.His1238Gln)
c.2424C>A (p.His808Gln)
c.3771C>A (p.His1257Gln)
n.3845C>A
dbSNP
7g.116783385C>GCA368991708METc.*1319C>G (n.*1319C>G)
c.3768C>G (p.His1256Gln)
c.3714C>G (p.His1238Gln)
c.2424C>G (p.His808Gln)
c.3771C>G (p.His1257Gln)
n.3845C>G
ClinVar dbSNP
7g.116783385C>TCA457219465METc.*1319C>T (n.*1319C>T)
c.3768C>T (p.His1256=)
c.3714C>T (p.His1238=)
c.2424C>T (p.His808=)
c.3771C>T (p.His1257=)
n.3845C>T
dbSNP
7g.116783386A>CCA368991711METc.*1320A>C (n.*1320A>C)
c.3769A>C (p.Asn1257His)
c.3715A>C (p.Asn1239His)
c.2425A>C (p.Asn809His)
c.3772A>C (p.Asn1258His)
n.3846A>C
7g.116783386A>GCA368991712METc.*1320A>G (n.*1320A>G)
c.3769A>G (p.Asn1257Asp)
c.3715A>G (p.Asn1239Asp)
c.2425A>G (p.Asn809Asp)
c.3772A>G (p.Asn1258Asp)
n.3846A>G
7g.116783386A>TCA368991714METc.*1320A>T (n.*1320A>T)
c.3769A>T (p.Asn1257Tyr)
c.3715A>T (p.Asn1239Tyr)
c.2425A>T (p.Asn809Tyr)
c.3772A>T (p.Asn1258Tyr)
n.3846A>T
7g.116783387A=CA1737014474METc.*1321A= (n.*1321A=)
c.3770A= (p.Asn1257=)
c.3716A= (p.Asn1239=)
c.2426A= (p.Asn809=)
c.3773A= (p.Asn1258=)
n.3847A=
7g.116783387A>CCA368991717METc.*1321A>C (n.*1321A>C)
c.3770A>C (p.Asn1257Thr)
c.3716A>C (p.Asn1239Thr)
c.2426A>C (p.Asn809Thr)
c.3773A>C (p.Asn1258Thr)
n.3847A>C
dbSNP
7g.116783387A>GCA368991719METc.*1321A>G (n.*1321A>G)
c.3770A>G (p.Asn1257Ser)
c.3716A>G (p.Asn1239Ser)
c.2426A>G (p.Asn809Ser)
c.3773A>G (p.Asn1258Ser)
n.3847A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.116783387A>TCA368991721METc.*1321A>T (n.*1321A>T)
c.3770A>T (p.Asn1257Ile)
c.3716A>T (p.Asn1239Ile)
c.2426A>T (p.Asn809Ile)
c.3773A>T (p.Asn1258Ile)
n.3847A>T
dbSNP
7g.116783388C>ACA368991724METc.*1322C>A (n.*1322C>A)
c.3771C>A (p.Asn1257Lys)
c.3717C>A (p.Asn1239Lys)
c.2427C>A (p.Asn809Lys)
c.3774C>A (p.Asn1258Lys)
n.3848C>A
ClinVar dbSNP gnomAD v4
7g.116783388C>GCA368991727METc.*1322C>G (n.*1322C>G)
c.3771C>G (p.Asn1257Lys)
c.3717C>G (p.Asn1239Lys)
c.2427C>G (p.Asn809Lys)
c.3774C>G (p.Asn1258Lys)
n.3848C>G
7g.116783388C>TCA457219470METc.*1322C>T (n.*1322C>T)
c.3771C>T (p.Asn1257=)
c.3717C>T (p.Asn1239=)
c.2427C>T (p.Asn809=)
c.3774C>T (p.Asn1258=)
n.3848C>T
gnomAD v4
7g.116783389A>CCA368991733METc.*1323A>C (n.*1323A>C)
c.3772A>C (p.Lys1258Gln)
c.3718A>C (p.Lys1240Gln)
c.2428A>C (p.Lys810Gln)
c.3775A>C (p.Lys1259Gln)
n.3849A>C
7g.116783389A>GCA368991729METc.*1323A>G (n.*1323A>G)
c.3772A>G (p.Lys1258Glu)
c.3718A>G (p.Lys1240Glu)
c.2428A>G (p.Lys810Glu)
c.3775A>G (p.Lys1259Glu)
n.3849A>G
7g.116783389A>TCA368991731METc.*1323A>T (n.*1323A>T)
c.3772A>T (p.Lys1258Ter)
c.3718A>T (p.Lys1240Ter)
c.2428A>T (p.Lys810Ter)
c.3775A>T (p.Lys1259Ter)
n.3849A>T
7g.116783390A>CCA368991736METc.*1324A>C (n.*1324A>C)
c.3773A>C (p.Lys1258Thr)
c.3719A>C (p.Lys1240Thr)
c.2429A>C (p.Lys810Thr)
c.3776A>C (p.Lys1259Thr)
n.3850A>C
7g.116783390A>GCA368991738METc.*1324A>G (n.*1324A>G)
c.3773A>G (p.Lys1258Arg)
c.3719A>G (p.Lys1240Arg)
c.2429A>G (p.Lys810Arg)
c.3776A>G (p.Lys1259Arg)
n.3850A>G
ClinVar
7g.116783390A>TCA368991740METc.*1324A>T (n.*1324A>T)
c.3773A>T (p.Lys1258Ile)
c.3719A>T (p.Lys1240Ile)
c.2429A>T (p.Lys810Ile)
c.3776A>T (p.Lys1259Ile)
n.3850A>T
7g.116783391A>CCA368991743METc.*1325A>C (n.*1325A>C)
c.3774A>C (p.Lys1258Asn)
c.3720A>C (p.Lys1240Asn)
c.2430A>C (p.Lys810Asn)
c.3777A>C (p.Lys1259Asn)
n.3851A>C
7g.116783391A>GCA457219474METc.*1325A>G (n.*1325A>G)
c.3774A>G (p.Lys1258=)
c.3720A>G (p.Lys1240=)
c.2430A>G (p.Lys810=)
c.3777A>G (p.Lys1259=)
n.3851A>G
dbSNP
7g.116783391A>TCA368991746METc.*1325A>T (n.*1325A>T)
c.3774A>T (p.Lys1258Asn)
c.3720A>T (p.Lys1240Asn)
c.2430A>T (p.Lys810Asn)
c.3777A>T (p.Lys1259Asn)
n.3851A>T
dbSNP
7g.116783392A=CA1737014479METc.*1326A= (n.*1326A=)
c.3775A= (p.Thr1259=)
c.3721A= (p.Thr1241=)
c.2431A= (p.Thr811=)
c.3778A= (p.Thr1260=)
n.3852A=
7g.116783392A>CCA368991748METc.*1326A>C (n.*1326A>C)
c.3775A>C (p.Thr1259Pro)
c.3721A>C (p.Thr1241Pro)
c.2431A>C (p.Thr811Pro)
c.3778A>C (p.Thr1260Pro)
n.3852A>C
dbSNP
7g.116783392A>GCA4448767METc.*1326A>G (n.*1326A>G)
c.3775A>G (p.Thr1259Ala)
c.3721A>G (p.Thr1241Ala)
c.2431A>G (p.Thr811Ala)
c.3778A>G (p.Thr1260Ala)
n.3852A>G
dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783392A>TCA368991750METc.*1326A>T (n.*1326A>T)
c.3775A>T (p.Thr1259Ser)
c.3721A>T (p.Thr1241Ser)
c.2431A>T (p.Thr811Ser)
c.3778A>T (p.Thr1260Ser)
n.3852A>T
dbSNP
7g.116783393C>ACA368991752METc.*1327C>A (n.*1327C>A)
c.3776C>A (p.Thr1259Lys)
c.3722C>A (p.Thr1241Lys)
c.2432C>A (p.Thr811Lys)
c.3779C>A (p.Thr1260Lys)
n.3853C>A
dbSNP
7g.116783393C=CA1737014483METc.*1327C= (n.*1327C=)
c.3776C= (p.Thr1259=)
c.3722C= (p.Thr1241=)
c.2432C= (p.Thr811=)
c.3779C= (p.Thr1260=)
n.3853C=
7g.116783393C>GCA368991755METc.*1327C>G (n.*1327C>G)
c.3776C>G (p.Thr1259Arg)
c.3722C>G (p.Thr1241Arg)
c.2432C>G (p.Thr811Arg)
c.3779C>G (p.Thr1260Arg)
n.3853C>G
dbSNP
7g.116783393C>TCA368991757METc.*1327C>T (n.*1327C>T)
c.3776C>T (p.Thr1259Ile)
c.3722C>T (p.Thr1241Ile)
c.2432C>T (p.Thr811Ile)
c.3779C>T (p.Thr1260Ile)
n.3853C>T
dbSNP gnomAD v2 gnomAD v4
7g.116783394A=CA1737014490METc.*1328A= (n.*1328A=)
c.3777A= (p.Thr1259=)
c.3723A= (p.Thr1241=)
c.2433A= (p.Thr811=)
c.3780A= (p.Thr1260=)
n.3854A=
7g.116783394A>CCA457219476METc.*1328A>C (n.*1328A>C)
c.3777A>C (p.Thr1259=)
c.3723A>C (p.Thr1241=)
c.2433A>C (p.Thr811=)
c.3780A>C (p.Thr1260=)
n.3854A>C
7g.116783394A>GCA457219477METc.*1328A>G (n.*1328A>G)
c.3777A>G (p.Thr1259=)
c.3723A>G (p.Thr1241=)
c.2433A>G (p.Thr811=)
c.3780A>G (p.Thr1260=)
n.3854A>G
dbSNP
7g.116783394A>TCA457219478METc.*1328A>T (n.*1328A>T)
c.3777A>T (p.Thr1259=)
c.3723A>T (p.Thr1241=)
c.2433A>T (p.Thr811=)
c.3780A>T (p.Thr1260=)
n.3854A>T
dbSNP
7g.116783395G>ACA368991765METc.*1329G>A (n.*1329G>A)
c.3778G>A (p.Gly1260Ser)
c.3724G>A (p.Gly1242Ser)
c.2434G>A (p.Gly812Ser)
c.3781G>A (p.Gly1261Ser)
n.3855G>A
dbSNP
7g.116783395G>CCA368991763METc.*1329G>C (n.*1329G>C)
c.3778G>C (p.Gly1260Arg)
c.3724G>C (p.Gly1242Arg)
c.2434G>C (p.Gly812Arg)
c.3781G>C (p.Gly1261Arg)
n.3855G>C
dbSNP
7g.116783395G>TCA368991761METc.*1329G>T (n.*1329G>T)
c.3778G>T (p.Gly1260Cys)
c.3724G>T (p.Gly1242Cys)
c.2434G>T (p.Gly812Cys)
c.3781G>T (p.Gly1261Cys)
n.3855G>T
dbSNP COSMIC
7g.116783396G>ACA164910974METc.*1330G>A (n.*1330G>A)
c.3779G>A (p.Gly1260Asp)
c.3725G>A (p.Gly1242Asp)
c.2435G>A (p.Gly812Asp)
c.3782G>A (p.Gly1261Asp)
n.3856G>A
ClinVar dbSNP gnomAD v4
7g.116783396G>CCA368991769METc.*1330G>C (n.*1330G>C)
c.3779G>C (p.Gly1260Ala)
c.3725G>C (p.Gly1242Ala)
c.2435G>C (p.Gly812Ala)
c.3782G>C (p.Gly1261Ala)
n.3856G>C
dbSNP gnomAD v4
7g.116783396G=CA1737014502METc.*1330G= (n.*1330G=)
c.3779G= (p.Gly1260=)
c.3725G= (p.Gly1242=)
c.2435G= (p.Gly812=)
c.3782G= (p.Gly1261=)
n.3856G=
7g.116783396G>TCA368991771METc.*1330G>T (n.*1330G>T)
c.3779G>T (p.Gly1260Val)
c.3725G>T (p.Gly1242Val)
c.2435G>T (p.Gly812Val)
c.3782G>T (p.Gly1261Val)
n.3856G>T
ClinVar dbSNP gnomAD v4
7g.116783397T>ACA457219483METc.*1331T>A (n.*1331T>A)
c.3780T>A (p.Gly1260=)
c.3726T>A (p.Gly1242=)
c.2436T>A (p.Gly812=)
c.3783T>A (p.Gly1261=)
n.3857T>A
ClinVar dbSNP gnomAD v4
7g.116783397T>CCA457219485METc.*1331T>C (n.*1331T>C)
c.3780T>C (p.Gly1260=)
c.3726T>C (p.Gly1242=)
c.2436T>C (p.Gly812=)
c.3783T>C (p.Gly1261=)
n.3857T>C
ClinVar dbSNP
7g.116783397T>GCA457219486METc.*1331T>G (n.*1331T>G)
c.3780T>G (p.Gly1260=)
c.3726T>G (p.Gly1242=)
c.2436T>G (p.Gly812=)
c.3783T>G (p.Gly1261=)
n.3857T>G
dbSNP
7g.116783398G>ACA4448768METc.*1332G>A (n.*1332G>A)
c.3781G>A (p.Ala1261Thr)
c.3727G>A (p.Ala1243Thr)
c.2437G>A (p.Ala813Thr)
c.3784G>A (p.Ala1262Thr)
n.3858G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783398G>CCA368991774METc.*1332G>C (n.*1332G>C)
c.3781G>C (p.Ala1261Pro)
c.3727G>C (p.Ala1243Pro)
c.2437G>C (p.Ala813Pro)
c.3784G>C (p.Ala1262Pro)
n.3858G>C
7g.116783398G=CA1737014511METc.*1332G= (n.*1332G=)
c.3781G= (p.Ala1261=)
c.3727G= (p.Ala1243=)
c.2437G= (p.Ala813=)
c.3784G= (p.Ala1262=)
n.3858G=
7g.116783398G>TCA368991777METc.*1332G>T (n.*1332G>T)
c.3781G>T (p.Ala1261Ser)
c.3727G>T (p.Ala1243Ser)
c.2437G>T (p.Ala813Ser)
c.3784G>T (p.Ala1262Ser)
n.3858G>T
dbSNP
7g.116783399C>ACA164910981METc.*1333C>A (n.*1333C>A)
c.3782C>A (p.Ala1261Glu)
c.3728C>A (p.Ala1243Glu)
c.2438C>A (p.Ala813Glu)
c.3785C>A (p.Ala1262Glu)
n.3859C>A
ClinVar dbSNP gnomAD v4
7g.116783399C=CA1737014520METc.*1333C= (n.*1333C=)
c.3782C= (p.Ala1261=)
c.3728C= (p.Ala1243=)
c.2438C= (p.Ala813=)
c.3785C= (p.Ala1262=)
n.3859C=
7g.116783399C>GCA368991780METc.*1333C>G (n.*1333C>G)
c.3782C>G (p.Ala1261Gly)
c.3728C>G (p.Ala1243Gly)
c.2438C>G (p.Ala813Gly)
c.3785C>G (p.Ala1262Gly)
n.3859C>G
dbSNP
7g.116783399C>TCA368991782METc.*1333C>T (n.*1333C>T)
c.3782C>T (p.Ala1261Val)
c.3728C>T (p.Ala1243Val)
c.2438C>T (p.Ala813Val)
c.3785C>T (p.Ala1262Val)
n.3859C>T
dbSNP
7g.116783400A>CCA457219487METc.*1334A>C (n.*1334A>C)
c.3783A>C (p.Ala1261=)
c.3729A>C (p.Ala1243=)
c.2439A>C (p.Ala813=)
c.3786A>C (p.Ala1262=)
n.3860A>C
7g.116783400A>GCA457219488METc.*1334A>G (n.*1334A>G)
c.3783A>G (p.Ala1261=)
c.3729A>G (p.Ala1243=)
c.2439A>G (p.Ala813=)
c.3786A>G (p.Ala1262=)
n.3860A>G
gnomAD v4
7g.116783400A>TCA457219490METc.*1334A>T (n.*1334A>T)
c.3783A>T (p.Ala1261=)
c.3729A>T (p.Ala1243=)
c.2439A>T (p.Ala813=)
c.3786A>T (p.Ala1262=)
n.3860A>T
7g.116783401A>CCA368991785METc.*1335A>C (n.*1335A>C)
c.3784A>C (p.Lys1262Gln)
c.3730A>C (p.Lys1244Gln)
c.2440A>C (p.Lys814Gln)
c.3787A>C (p.Lys1263Gln)
n.3861A>C
7g.116783401A>GCA368991787METc.*1335A>G (n.*1335A>G)
c.3784A>G (p.Lys1262Glu)
c.3730A>G (p.Lys1244Glu)
c.2440A>G (p.Lys814Glu)
c.3787A>G (p.Lys1263Glu)
n.3861A>G
dbSNP gnomAD v4
7g.116783401A>TCA368991789METc.*1335A>T (n.*1335A>T)
c.3784A>T (p.Lys1262Ter)
c.3730A>T (p.Lys1244Ter)
c.2440A>T (p.Lys814Ter)
c.3787A>T (p.Lys1263Ter)
n.3861A>T
dbSNP
7g.116783402A=CA1737014532METc.*1336A= (n.*1336A=)
c.3785A= (p.Lys1262=)
c.3731A= (p.Lys1244=)
c.2441A= (p.Lys814=)
c.3788A= (p.Lys1263=)
n.3862A=
7g.116783402A>CCA368991796METc.*1336A>C (n.*1336A>C)
c.3785A>C (p.Lys1262Thr)
c.3731A>C (p.Lys1244Thr)
c.2441A>C (p.Lys814Thr)
c.3788A>C (p.Lys1263Thr)
n.3862A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.116783402A>GCA123614METc.*1336A>G (n.*1336A>G)
c.3785A>G (p.Lys1262Arg)
c.3731A>G (p.Lys1244Arg)
c.2441A>G (p.Lys814Arg)
c.3788A>G (p.Lys1263Arg)
n.3862A>G
ClinVar dbSNP COSMIC
7g.116783402A>TCA368991791METc.*1336A>T (n.*1336A>T)
c.3785A>T (p.Lys1262Met)
c.3731A>T (p.Lys1244Met)
c.2441A>T (p.Lys814Met)
c.3788A>T (p.Lys1263Met)
n.3862A>T
dbSNP
7g.116783403G>ACA457219493METc.*1337G>A (n.*1337G>A)
c.3786G>A (p.Lys1262=)
c.3732G>A (p.Lys1244=)
c.2442G>A (p.Lys814=)
c.3789G>A (p.Lys1263=)
n.3863G>A
dbSNP
7g.116783403G>CCA4448769METc.*1337G>C (n.*1337G>C)
c.3786G>C (p.Lys1262Asn)
c.3732G>C (p.Lys1244Asn)
c.2442G>C (p.Lys814Asn)
c.3789G>C (p.Lys1263Asn)
n.3863G>C
dbSNP ExAC gnomAD v2
7g.116783403G=CA1737014539METc.*1337G= (n.*1337G=)
c.3786G= (p.Lys1262=)
c.3732G= (p.Lys1244=)
c.2442G= (p.Lys814=)
c.3789G= (p.Lys1263=)
n.3863G=
7g.116783403G>TCA368991799METc.*1337G>T (n.*1337G>T)
c.3786G>T (p.Lys1262Asn)
c.3732G>T (p.Lys1244Asn)
c.2442G>T (p.Lys814Asn)
c.3789G>T (p.Lys1263Asn)
n.3863G>T
dbSNP
7g.116783404C>ACA368991801METc.*1338C>A (n.*1338C>A)
c.3787C>A (p.Leu1263Met)
c.3733C>A (p.Leu1245Met)
c.2443C>A (p.Leu815Met)
c.3790C>A (p.Leu1264Met)
n.3864C>A
dbSNP
7g.116783404C>GCA368991802METc.*1338C>G (n.*1338C>G)
c.3787C>G (p.Leu1263Val)
c.3733C>G (p.Leu1245Val)
c.2443C>G (p.Leu815Val)
c.3790C>G (p.Leu1264Val)
n.3864C>G
dbSNP
7g.116783404C>TCA457219494METc.*1338C>T (n.*1338C>T)
c.3787C>T (p.Leu1263=)
c.3733C>T (p.Leu1245=)
c.2443C>T (p.Leu815=)
c.3790C>T (p.Leu1264=)
n.3864C>T
dbSNP
7g.116783405T>ACA368991805METc.*1339T>A (n.*1339T>A)
c.3788T>A (p.Leu1263Gln)
c.3734T>A (p.Leu1245Gln)
c.2444T>A (p.Leu815Gln)
c.3791T>A (p.Leu1264Gln)
n.3865T>A
dbSNP
7g.116783405T>CCA368991808METc.*1339T>C (n.*1339T>C)
c.3788T>C (p.Leu1263Pro)
c.3734T>C (p.Leu1245Pro)
c.2444T>C (p.Leu815Pro)
c.3791T>C (p.Leu1264Pro)
n.3865T>C
7g.116783405T>GCA368991810METc.*1339T>G (n.*1339T>G)
c.3788T>G (p.Leu1263Arg)
c.3734T>G (p.Leu1245Arg)
c.2444T>G (p.Leu815Arg)
c.3791T>G (p.Leu1264Arg)
n.3865T>G
7g.116783406G>ACA457219497METc.*1340G>A (n.*1340G>A)
c.3789G>A (p.Leu1263=)
c.3735G>A (p.Leu1245=)
c.2445G>A (p.Leu815=)
c.3792G>A (p.Leu1264=)
n.3866G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.116783406G>CCA457219499METc.*1340G>C (n.*1340G>C)
c.3789G>C (p.Leu1263=)
c.3735G>C (p.Leu1245=)
c.2445G>C (p.Leu815=)
c.3792G>C (p.Leu1264=)
n.3866G>C
dbSNP
7g.116783406G=CA1737014545METc.*1340G= (n.*1340G=)
c.3789G= (p.Leu1263=)
c.3735G= (p.Leu1245=)
c.2445G= (p.Leu815=)
c.3792G= (p.Leu1264=)
n.3866G=
7g.116783406G>TCA457219498METc.*1340G>T (n.*1340G>T)
c.3789G>T (p.Leu1263=)
c.3735G>T (p.Leu1245=)
c.2445G>T (p.Leu815=)
c.3792G>T (p.Leu1264=)
n.3866G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.116783407C>ACA368991813METc.*1341C>A (n.*1341C>A)
c.3790C>A (p.Pro1264Thr)
c.3736C>A (p.Pro1246Thr)
c.2446C>A (p.Pro816Thr)
c.3793C>A (p.Pro1265Thr)
n.3867C>A
dbSNP
7g.116783407C=CA1737014547METc.*1341C= (n.*1341C=)
c.3790C= (p.Pro1264=)
c.3736C= (p.Pro1246=)
c.2446C= (p.Pro816=)
c.3793C= (p.Pro1265=)
n.3867C=
7g.116783407C>GCA368991815METc.*1341C>G (n.*1341C>G)
c.3790C>G (p.Pro1264Ala)
c.3736C>G (p.Pro1246Ala)
c.2446C>G (p.Pro816Ala)
c.3793C>G (p.Pro1265Ala)
n.3867C>G
dbSNP
7g.116783407C>TCA368991818METc.*1341C>T (n.*1341C>T)
c.3790C>T (p.Pro1264Ser)
c.3736C>T (p.Pro1246Ser)
c.2446C>T (p.Pro816Ser)
c.3793C>T (p.Pro1265Ser)
n.3867C>T
dbSNP gnomAD v3 gnomAD v4
7g.116783408C>ACA368991821METc.*1342C>A (n.*1342C>A)
c.3791C>A (p.Pro1264Gln)
c.3737C>A (p.Pro1246Gln)
c.2447C>A (p.Pro816Gln)
c.3794C>A (p.Pro1265Gln)
n.3868C>A
7g.116783408C>GCA368991823METc.*1342C>G (n.*1342C>G)
c.3791C>G (p.Pro1264Arg)
c.3737C>G (p.Pro1246Arg)
c.2447C>G (p.Pro816Arg)
c.3794C>G (p.Pro1265Arg)
n.3868C>G
7g.116783408C>TCA368991826METc.*1342C>T (n.*1342C>T)
c.3791C>T (p.Pro1264Leu)
c.3737C>T (p.Pro1246Leu)
c.2447C>T (p.Pro816Leu)
c.3794C>T (p.Pro1265Leu)
n.3868C>T
7g.116783409A>CCA457219500METc.*1343A>C (n.*1343A>C)
c.3792A>C (p.Pro1264=)
c.3738A>C (p.Pro1246=)
c.2448A>C (p.Pro816=)
c.3795A>C (p.Pro1265=)
n.3869A>C
7g.116783409A>GCA457219501METc.*1343A>G (n.*1343A>G)
c.3792A>G (p.Pro1264=)
c.3738A>G (p.Pro1246=)
c.2448A>G (p.Pro816=)
c.3795A>G (p.Pro1265=)
n.3869A>G
ClinVar gnomAD v4
7g.116783409A>TCA457219502METc.*1343A>T (n.*1343A>T)
c.3792A>T (p.Pro1264=)
c.3738A>T (p.Pro1246=)
c.2448A>T (p.Pro816=)
c.3795A>T (p.Pro1265=)
n.3869A>T
dbSNP
7g.116783410G>ACA368991831METc.*1344G>A (n.*1344G>A)
c.3793G>A (p.Val1265Met)
c.3739G>A (p.Val1247Met)
c.2449G>A (p.Val817Met)
c.3796G>A (p.Val1266Met)
n.3870G>A
ClinVar dbSNP gnomAD v4
7g.116783410G>CCA368991834METc.*1344G>C (n.*1344G>C)
c.3793G>C (p.Val1265Leu)
c.3739G>C (p.Val1247Leu)
c.2449G>C (p.Val817Leu)
c.3796G>C (p.Val1266Leu)
n.3870G>C
dbSNP
7g.116783410G=CA1737014554METc.*1344G= (n.*1344G=)
c.3793G= (p.Val1265=)
c.3739G= (p.Val1247=)
c.2449G= (p.Val817=)
c.3796G= (p.Val1266=)
n.3870G=
7g.116783410G>TCA368991829METc.*1344G>T (n.*1344G>T)
c.3793G>T (p.Val1265Leu)
c.3739G>T (p.Val1247Leu)
c.2449G>T (p.Val817Leu)
c.3796G>T (p.Val1266Leu)
n.3870G>T
7g.116783411T>ACA368991836METc.*1345T>A (n.*1345T>A)
c.3794T>A (p.Val1265Glu)
c.3740T>A (p.Val1247Glu)
c.2450T>A (p.Val817Glu)
c.3797T>A (p.Val1266Glu)
n.3871T>A
7g.116783411T>CCA368991841METc.*1345T>C (n.*1345T>C)
c.3794T>C (p.Val1265Ala)
c.3740T>C (p.Val1247Ala)
c.2450T>C (p.Val817Ala)
c.3797T>C (p.Val1266Ala)
n.3871T>C
7g.116783411T>GCA368991839METc.*1345T>G (n.*1345T>G)
c.3794T>G (p.Val1265Gly)
c.3740T>G (p.Val1247Gly)
c.2450T>G (p.Val817Gly)
c.3797T>G (p.Val1266Gly)
n.3871T>G
7g.116783412G>ACA457219503METc.*1346G>A (n.*1346G>A)
c.3795G>A (p.Val1265=)
c.3741G>A (p.Val1247=)
c.2451G>A (p.Val817=)
c.3798G>A (p.Val1266=)
n.3872G>A
ClinVar dbSNP
7g.116783412G>CCA457219504METc.*1346G>C (n.*1346G>C)
c.3795G>C (p.Val1265=)
c.3741G>C (p.Val1247=)
c.2451G>C (p.Val817=)
c.3798G>C (p.Val1266=)
n.3872G>C
ClinVar dbSNP gnomAD v4
7g.116783412G=CA1737014563METc.*1346G= (n.*1346G=)
c.3795G= (p.Val1265=)
c.3741G= (p.Val1247=)
c.2451G= (p.Val817=)
c.3798G= (p.Val1266=)
n.3872G=
7g.116783412G>TCA457219505METc.*1346G>T (n.*1346G>T)
c.3795G>T (p.Val1265=)
c.3741G>T (p.Val1247=)
c.2451G>T (p.Val817=)
c.3798G>T (p.Val1266=)
n.3872G>T
7g.116783413A>CCA368991843METc.*1347A>C (n.*1347A>C)
c.3796A>C (p.Lys1266Gln)
c.3742A>C (p.Lys1248Gln)
c.2452A>C (p.Lys818Gln)
c.3799A>C (p.Lys1267Gln)
n.3873A>C
7g.116783413A>GCA368991846METc.*1347A>G (n.*1347A>G)
c.3796A>G (p.Lys1266Glu)
c.3742A>G (p.Lys1248Glu)
c.2452A>G (p.Lys818Glu)
c.3799A>G (p.Lys1267Glu)
n.3873A>G
7g.116783413A>TCA368991848METc.*1347A>T (n.*1347A>T)
c.3796A>T (p.Lys1266Ter)
c.3742A>T (p.Lys1248Ter)
c.2452A>T (p.Lys818Ter)
c.3799A>T (p.Lys1267Ter)
n.3873A>T
dbSNP
7g.116783414A>CCA368991851METc.*1348A>C (n.*1348A>C)
c.3797A>C (p.Lys1266Thr)
c.3743A>C (p.Lys1248Thr)
c.2453A>C (p.Lys818Thr)
c.3800A>C (p.Lys1267Thr)
n.3874A>C
7g.116783414A>GCA368991853METc.*1348A>G (n.*1348A>G)
c.3797A>G (p.Lys1266Arg)
c.3743A>G (p.Lys1248Arg)
c.2453A>G (p.Lys818Arg)
c.3800A>G (p.Lys1267Arg)
n.3874A>G
7g.116783414A>TCA368991855METc.*1348A>T (n.*1348A>T)
c.3797A>T (p.Lys1266Met)
c.3743A>T (p.Lys1248Met)
c.2453A>T (p.Lys818Met)
c.3800A>T (p.Lys1267Met)
n.3874A>T
dbSNP
7g.116783415G>ACA457219508METc.*1349G>A (n.*1349G>A)
c.3798G>A (p.Lys1266=)
c.3744G>A (p.Lys1248=)
c.2454G>A (p.Lys818=)
c.3801G>A (p.Lys1267=)
n.3875G>A
ClinVar dbSNP
7g.116783415G>CCA368991859METc.*1349G>C (n.*1349G>C)
c.3798G>C (p.Lys1266Asn)
c.3744G>C (p.Lys1248Asn)
c.2454G>C (p.Lys818Asn)
c.3801G>C (p.Lys1267Asn)
n.3875G>C
dbSNP
7g.116783415G>TCA368991860METc.*1349G>T (n.*1349G>T)
c.3798G>T (p.Lys1266Asn)
c.3744G>T (p.Lys1248Asn)
c.2454G>T (p.Lys818Asn)
c.3801G>T (p.Lys1267Asn)
n.3875G>T
7g.116783416T>ACA368991864METc.*1350T>A (n.*1350T>A)
c.3799T>A (p.Trp1267Arg)
c.3745T>A (p.Trp1249Arg)
c.2455T>A (p.Trp819Arg)
c.3802T>A (p.Trp1268Arg)
n.3876T>A
7g.116783416T>CCA368991867METc.*1350T>C (n.*1350T>C)
c.3799T>C (p.Trp1267Arg)
c.3745T>C (p.Trp1249Arg)
c.2455T>C (p.Trp819Arg)
c.3802T>C (p.Trp1268Arg)
n.3876T>C
7g.116783416T>GCA368991869METc.*1350T>G (n.*1350T>G)
c.3799T>G (p.Trp1267Gly)
c.3745T>G (p.Trp1249Gly)
c.2455T>G (p.Trp819Gly)
c.3802T>G (p.Trp1268Gly)
n.3876T>G
7g.116783417G>ACA368991873METc.*1351G>A (n.*1351G>A)
c.3800G>A (p.Trp1267Ter)
c.3746G>A (p.Trp1249Ter)
c.2456G>A (p.Trp819Ter)
c.3803G>A (p.Trp1268Ter)
n.3877G>A
dbSNP
7g.116783417G>CCA368991871METc.*1351G>C (n.*1351G>C)
c.3800G>C (p.Trp1267Ser)
c.3746G>C (p.Trp1249Ser)
c.2456G>C (p.Trp819Ser)
c.3803G>C (p.Trp1268Ser)
n.3877G>C
7g.116783417G>TCA368991870METc.*1351G>T (n.*1351G>T)
c.3800G>T (p.Trp1267Leu)
c.3746G>T (p.Trp1249Leu)
c.2456G>T (p.Trp819Leu)
c.3803G>T (p.Trp1268Leu)
n.3877G>T
dbSNP
7g.116783418G>ACA368991876METc.*1352G>A (n.*1352G>A)
c.3801G>A (p.Trp1267Ter)
c.3747G>A (p.Trp1249Ter)
c.2457G>A (p.Trp819Ter)
c.3804G>A (p.Trp1268Ter)
n.3878G>A
ClinVar dbSNP
7g.116783418G>CCA368991877METc.*1352G>C (n.*1352G>C)
c.3801G>C (p.Trp1267Cys)
c.3747G>C (p.Trp1249Cys)
c.2457G>C (p.Trp819Cys)
c.3804G>C (p.Trp1268Cys)
n.3878G>C
dbSNP
7g.116783418G>TCA368991879METc.*1352G>T (n.*1352G>T)
c.3801G>T (p.Trp1267Cys)
c.3747G>T (p.Trp1249Cys)
c.2457G>T (p.Trp819Cys)
c.3804G>T (p.Trp1268Cys)
n.3878G>T
dbSNP
7g.116783419A>CCA368991882METc.*1353A>C (n.*1353A>C)
c.3802A>C (p.Met1268Leu)
c.3748A>C (p.Met1250Leu)
c.2458A>C (p.Met820Leu)
c.3805A>C (p.Met1269Leu)
n.3879A>C
7g.116783419A>GCA368991885METc.*1353A>G (n.*1353A>G)
c.3802A>G (p.Met1268Val)
c.3748A>G (p.Met1250Val)
c.2458A>G (p.Met820Val)
c.3805A>G (p.Met1269Val)
n.3879A>G
dbSNP
7g.116783419A>TCA368991888METc.*1353A>T (n.*1353A>T)
c.3802A>T (p.Met1268Leu)
c.3748A>T (p.Met1250Leu)
c.2458A>T (p.Met820Leu)
c.3805A>T (p.Met1269Leu)
n.3879A>T
ClinVar dbSNP
7g.116783420T>ACA368991889METc.*1354T>A (n.*1354T>A)
c.3803T>A (p.Met1268Lys)
c.3749T>A (p.Met1250Lys)
c.2459T>A (p.Met820Lys)
c.3806T>A (p.Met1269Lys)
n.3880T>A
dbSNP
7g.116783420T>CCA16602584METc.*1354T>C (n.*1354T>C)
c.3803T>C (p.Met1268Thr)
c.3749T>C (p.Met1250Thr)
c.2459T>C (p.Met820Thr)
c.3806T>C (p.Met1269Thr)
n.3880T>C
ClinVar dbSNP gnomAD v4 COSMIC
7g.116783420T>GCA368991891METc.*1354T>G (n.*1354T>G)
c.3803T>G (p.Met1268Arg)
c.3749T>G (p.Met1250Arg)
c.2459T>G (p.Met820Arg)
c.3806T>G (p.Met1269Arg)
n.3880T>G
dbSNP
7g.116783420T=CA1737014569METc.*1354T= (n.*1354T=)
c.3803T= (p.Met1268=)
c.3749T= (p.Met1250=)
c.2459T= (p.Met820=)
c.3806T= (p.Met1269=)
n.3880T=
7g.116783421G>ACA123611METc.*1355G>A (n.*1355G>A)
c.3804G>A (p.Met1268Ile)
c.3750G>A (p.Met1250Ile)
c.2460G>A (p.Met820Ile)
c.3807G>A (p.Met1269Ile)
n.3881G>A
ClinVar dbSNP COSMIC
7g.116783421G>CCA16602656METc.*1355G>C (n.*1355G>C)
c.3804G>C (p.Met1268Ile)
c.3750G>C (p.Met1250Ile)
c.2460G>C (p.Met820Ile)
c.3807G>C (p.Met1269Ile)
n.3881G>C
ClinVar dbSNP
7g.116783421G=CA1737014581METc.*1355G= (n.*1355G=)
c.3804G= (p.Met1268=)
c.3750G= (p.Met1250=)
c.2460G= (p.Met820=)
c.3807G= (p.Met1269=)
n.3881G=
7g.116783421G>TCA16602657METc.*1355G>T (n.*1355G>T)
c.3804G>T (p.Met1268Ile)
c.3750G>T (p.Met1250Ile)
c.2460G>T (p.Met820Ile)
c.3807G>T (p.Met1269Ile)
n.3881G>T
ClinVar dbSNP
7g.116783422G>ACA368991901METc.*1356G>A (n.*1356G>A)
c.3805G>A (p.Ala1269Thr)
c.3751G>A (p.Ala1251Thr)
c.2461G>A (p.Ala821Thr)
c.3808G>A (p.Ala1270Thr)
n.3882G>A
dbSNP COSMIC
7g.116783422G>CCA368991899METc.*1356G>C (n.*1356G>C)
c.3805G>C (p.Ala1269Pro)
c.3751G>C (p.Ala1251Pro)
c.2461G>C (p.Ala821Pro)
c.3808G>C (p.Ala1270Pro)
n.3882G>C
dbSNP
7g.116783422G>TCA368991897METc.*1356G>T (n.*1356G>T)
c.3805G>T (p.Ala1269Ser)
c.3751G>T (p.Ala1251Ser)
c.2461G>T (p.Ala821Ser)
c.3808G>T (p.Ala1270Ser)
n.3882G>T
dbSNP
7g.116783423C>ACA368991906METc.*1357C>A (n.*1357C>A)
c.3806C>A (p.Ala1269Asp)
c.3752C>A (p.Ala1251Asp)
c.2462C>A (p.Ala821Asp)
c.3809C>A (p.Ala1270Asp)
n.3883C>A
dbSNP
7g.116783423C>GCA368991903METc.*1357C>G (n.*1357C>G)
c.3806C>G (p.Ala1269Gly)
c.3752C>G (p.Ala1251Gly)
c.2462C>G (p.Ala821Gly)
c.3809C>G (p.Ala1270Gly)
n.3883C>G
dbSNP
7g.116783423C>TCA368991904METc.*1357C>T (n.*1357C>T)
c.3806C>T (p.Ala1269Val)
c.3752C>T (p.Ala1251Val)
c.2462C>T (p.Ala821Val)
c.3809C>T (p.Ala1270Val)
n.3883C>T
dbSNP
7g.116783424T>ACA457219512METc.*1358T>A (n.*1358T>A)
c.3807T>A (p.Ala1269=)
c.3753T>A (p.Ala1251=)
c.2463T>A (p.Ala821=)
c.3810T>A (p.Ala1270=)
n.3884T>A
dbSNP
7g.116783424T>CCA457219514METc.*1358T>C (n.*1358T>C)
c.3807T>C (p.Ala1269=)
c.3753T>C (p.Ala1251=)
c.2463T>C (p.Ala821=)
c.3810T>C (p.Ala1270=)
n.3884T>C
7g.116783424T>GCA457219513METc.*1358T>G (n.*1358T>G)
c.3807T>G (p.Ala1269=)
c.3753T>G (p.Ala1251=)
c.2463T>G (p.Ala821=)
c.3810T>G (p.Ala1270=)
n.3884T>G
7g.116783425T>ACA368991909METc.*1359T>A (n.*1359T>A)
c.3808T>A (p.Leu1270Met)
c.3754T>A (p.Leu1252Met)
c.2464T>A (p.Leu822Met)
c.3811T>A (p.Leu1271Met)
n.3885T>A
dbSNP
7g.116783425T>CCA457219515METc.*1359T>C (n.*1359T>C)
c.3808T>C (p.Leu1270=)
c.3754T>C (p.Leu1252=)
c.2464T>C (p.Leu822=)
c.3811T>C (p.Leu1271=)
n.3885T>C
7g.116783425T>GCA368991910METc.*1359T>G (n.*1359T>G)
c.3808T>G (p.Leu1270Val)
c.3754T>G (p.Leu1252Val)
c.2464T>G (p.Leu822Val)
c.3811T>G (p.Leu1271Val)
n.3885T>G
7g.116783426T>ACA368991911METc.*1360T>A (n.*1360T>A)
c.3809T>A (p.Leu1270Ter)
c.3755T>A (p.Leu1252Ter)
c.2465T>A (p.Leu822Ter)
c.3812T>A (p.Leu1271Ter)
n.3886T>A
dbSNP
7g.116783426T>CCA368991913METc.*1360T>C (n.*1360T>C)
c.3809T>C (p.Leu1270Ser)
c.3755T>C (p.Leu1252Ser)
c.2465T>C (p.Leu822Ser)
c.3812T>C (p.Leu1271Ser)
n.3886T>C
7g.116783426T>GCA368991914METc.*1360T>G (n.*1360T>G)
c.3809T>G (p.Leu1270Trp)
c.3755T>G (p.Leu1252Trp)
c.2465T>G (p.Leu822Trp)
c.3812T>G (p.Leu1271Trp)
n.3886T>G
7g.116783427G>ACA457219517METc.*1361G>A (n.*1361G>A)
c.3810G>A (p.Leu1270=)
c.3756G>A (p.Leu1252=)
c.2466G>A (p.Leu822=)
c.3813G>A (p.Leu1271=)
n.3887G>A
dbSNP gnomAD v4
7g.116783427G>CCA368991915METc.*1361G>C (n.*1361G>C)
c.3810G>C (p.Leu1270Phe)
c.3756G>C (p.Leu1252Phe)
c.2466G>C (p.Leu822Phe)
c.3813G>C (p.Leu1271Phe)
n.3887G>C
dbSNP
7g.116783427G>TCA368991918METc.*1361G>T (n.*1361G>T)
c.3810G>T (p.Leu1270Phe)
c.3756G>T (p.Leu1252Phe)
c.2466G>T (p.Leu822Phe)
c.3813G>T (p.Leu1271Phe)
n.3887G>T
dbSNP

Number of alleles fetched