Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
7g.116783428G>ACA368991920METc.*1362G>A (n.*1362G>A)
c.3811G>A (p.Glu1271Lys)
c.3757G>A (p.Glu1253Lys)
c.2467G>A (p.Glu823Lys)
c.3814G>A (p.Glu1272Lys)
n.3888G>A
ClinVar dbSNP COSMIC
7g.116783428G>CCA368991921METc.*1362G>C (n.*1362G>C)
c.3811G>C (p.Glu1271Gln)
c.3757G>C (p.Glu1253Gln)
c.2467G>C (p.Glu823Gln)
c.3814G>C (p.Glu1272Gln)
n.3888G>C
dbSNP gnomAD v4
7g.116783428G>TCA368991923METc.*1362G>T (n.*1362G>T)
c.3811G>T (p.Glu1271Ter)
c.3757G>T (p.Glu1253Ter)
c.2467G>T (p.Glu823Ter)
c.3814G>T (p.Glu1272Ter)
n.3888G>T
dbSNP
7g.116783429A>CCA368991928METc.*1363A>C (n.*1363A>C)
c.3812A>C (p.Glu1271Ala)
c.3758A>C (p.Glu1253Ala)
c.2468A>C (p.Glu823Ala)
c.3815A>C (p.Glu1272Ala)
n.3889A>C
7g.116783429A>GCA368991926METc.*1363A>G (n.*1363A>G)
c.3812A>G (p.Glu1271Gly)
c.3758A>G (p.Glu1253Gly)
c.2468A>G (p.Glu823Gly)
c.3815A>G (p.Glu1272Gly)
n.3889A>G
dbSNP
7g.116783429A>TCA368991924METc.*1363A>T (n.*1363A>T)
c.3812A>T (p.Glu1271Val)
c.3758A>T (p.Glu1253Val)
c.2468A>T (p.Glu823Val)
c.3815A>T (p.Glu1272Val)
n.3889A>T
dbSNP
7g.116783430A>CCA368991930METc.*1364A>C (n.*1364A>C)
c.3813A>C (p.Glu1271Asp)
c.3759A>C (p.Glu1253Asp)
c.2469A>C (p.Glu823Asp)
c.3816A>C (p.Glu1272Asp)
n.3890A>C
7g.116783430A>GCA457219521METc.*1364A>G (n.*1364A>G)
c.3813A>G (p.Glu1271=)
c.3759A>G (p.Glu1253=)
c.2469A>G (p.Glu823=)
c.3816A>G (p.Glu1272=)
n.3890A>G
7g.116783430A>TCA368991933METc.*1364A>T (n.*1364A>T)
c.3813A>T (p.Glu1271Asp)
c.3759A>T (p.Glu1253Asp)
c.2469A>T (p.Glu823Asp)
c.3816A>T (p.Glu1272Asp)
n.3890A>T
7g.116783431A>CCA368991935METc.*1365A>C (n.*1365A>C)
c.3814A>C (p.Ser1272Arg)
c.3760A>C (p.Ser1254Arg)
c.2470A>C (p.Ser824Arg)
c.3817A>C (p.Ser1273Arg)
n.3891A>C
ClinVar
7g.116783431A>GCA368991936METc.*1365A>G (n.*1365A>G)
c.3814A>G (p.Ser1272Gly)
c.3760A>G (p.Ser1254Gly)
c.2470A>G (p.Ser824Gly)
c.3817A>G (p.Ser1273Gly)
n.3891A>G
7g.116783431A>TCA368991938METc.*1365A>T (n.*1365A>T)
c.3814A>T (p.Ser1272Cys)
c.3760A>T (p.Ser1254Cys)
c.2470A>T (p.Ser824Cys)
c.3817A>T (p.Ser1273Cys)
n.3891A>T
7g.116783432G>ACA164910994METc.*1366G>A (n.*1366G>A)
c.3815G>A (p.Ser1272Asn)
c.3761G>A (p.Ser1254Asn)
c.2471G>A (p.Ser824Asn)
c.3818G>A (p.Ser1273Asn)
n.3892G>A
dbSNP
7g.116783432G>CCA368991940METc.*1366G>C (n.*1366G>C)
c.3815G>C (p.Ser1272Thr)
c.3761G>C (p.Ser1254Thr)
c.2471G>C (p.Ser824Thr)
c.3818G>C (p.Ser1273Thr)
n.3892G>C
dbSNP
7g.116783432G=CA1737014591METc.*1366G= (n.*1366G=)
c.3815G= (p.Ser1272=)
c.3761G= (p.Ser1254=)
c.2471G= (p.Ser824=)
c.3818G= (p.Ser1273=)
n.3892G=
7g.116783432G>TCA368991942METc.*1366G>T (n.*1366G>T)
c.3815G>T (p.Ser1272Ile)
c.3761G>T (p.Ser1254Ile)
c.2471G>T (p.Ser824Ile)
c.3818G>T (p.Ser1273Ile)
n.3892G>T
dbSNP
7g.116783433T>ACA368991943METc.*1367T>A (n.*1367T>A)
c.3816T>A (p.Ser1272Arg)
c.3762T>A (p.Ser1254Arg)
c.2472T>A (p.Ser824Arg)
c.3819T>A (p.Ser1273Arg)
n.3893T>A
dbSNP
7g.116783433T>CCA457219522METc.*1367T>C (n.*1367T>C)
c.3816T>C (p.Ser1272=)
c.3762T>C (p.Ser1254=)
c.2472T>C (p.Ser824=)
c.3819T>C (p.Ser1273=)
n.3893T>C
dbSNP
7g.116783433T>GCA368991944METc.*1367T>G (n.*1367T>G)
c.3816T>G (p.Ser1272Arg)
c.3762T>G (p.Ser1254Arg)
c.2472T>G (p.Ser824Arg)
c.3819T>G (p.Ser1273Arg)
n.3893T>G
7g.116783434C>ACA368991947METc.*1368C>A (n.*1368C>A)
c.3817C>A (p.Leu1273Met)
c.3763C>A (p.Leu1255Met)
c.2473C>A (p.Leu825Met)
c.3820C>A (p.Leu1274Met)
n.3894C>A
dbSNP
7g.116783434C=CA1737014597METc.*1368C= (n.*1368C=)
c.3817C= (p.Leu1273=)
c.3763C= (p.Leu1255=)
c.2473C= (p.Leu825=)
c.3820C= (p.Leu1274=)
n.3894C=
7g.116783434C>GCA368991948METc.*1368C>G (n.*1368C>G)
c.3817C>G (p.Leu1273Val)
c.3763C>G (p.Leu1255Val)
c.2473C>G (p.Leu825Val)
c.3820C>G (p.Leu1274Val)
n.3894C>G
dbSNP
7g.116783434C>TCA164910997METc.*1368C>T (n.*1368C>T)
c.3817C>T (p.Leu1273=)
c.3763C>T (p.Leu1255=)
c.2473C>T (p.Leu825=)
c.3820C>T (p.Leu1274=)
n.3894C>T
dbSNP
7g.116783435T>ACA368991951METc.*1369T>A (n.*1369T>A)
c.3818T>A (p.Leu1273Gln)
c.3764T>A (p.Leu1255Gln)
c.2474T>A (p.Leu825Gln)
c.3821T>A (p.Leu1274Gln)
n.3895T>A
dbSNP
7g.116783435T>CCA368991953METc.*1369T>C (n.*1369T>C)
c.3818T>C (p.Leu1273Pro)
c.3764T>C (p.Leu1255Pro)
c.2474T>C (p.Leu825Pro)
c.3821T>C (p.Leu1274Pro)
n.3895T>C
7g.116783435T>GCA368991950METc.*1369T>G (n.*1369T>G)
c.3818T>G (p.Leu1273Arg)
c.3764T>G (p.Leu1255Arg)
c.2474T>G (p.Leu825Arg)
c.3821T>G (p.Leu1274Arg)
n.3895T>G
7g.116783436G>ACA457219527METc.*1370G>A (n.*1370G>A)
c.3819G>A (p.Leu1273=)
c.3765G>A (p.Leu1255=)
c.2475G>A (p.Leu825=)
c.3822G>A (p.Leu1274=)
n.3896G>A
ClinVar dbSNP gnomAD v4
7g.116783436G>CCA457219528METc.*1370G>C (n.*1370G>C)
c.3819G>C (p.Leu1273=)
c.3765G>C (p.Leu1255=)
c.2475G>C (p.Leu825=)
c.3822G>C (p.Leu1274=)
n.3896G>C
ClinVar dbSNP
7g.116783436G=CA1737014607METc.*1370G= (n.*1370G=)
c.3819G= (p.Leu1273=)
c.3765G= (p.Leu1255=)
c.2475G= (p.Leu825=)
c.3822G= (p.Leu1274=)
n.3896G=
7g.116783436G>TCA457219529METc.*1370G>T (n.*1370G>T)
c.3819G>T (p.Leu1273=)
c.3765G>T (p.Leu1255=)
c.2475G>T (p.Leu825=)
c.3822G>T (p.Leu1274=)
n.3896G>T
7g.116783437C>ACA368991955METc.*1371C>A (n.*1371C>A)
c.3820C>A (p.Gln1274Lys)
c.3766C>A (p.Gln1256Lys)
c.2476C>A (p.Gln826Lys)
c.3823C>A (p.Gln1275Lys)
n.3897C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.116783437C=CA1737014634METc.*1371C= (n.*1371C=)
c.3820C= (p.Gln1274=)
c.3766C= (p.Gln1256=)
c.2476C= (p.Gln826=)
c.3823C= (p.Gln1275=)
n.3897C=
7g.116783437C>GCA368991959METc.*1371C>G (n.*1371C>G)
c.3820C>G (p.Gln1274Glu)
c.3766C>G (p.Gln1256Glu)
c.2476C>G (p.Gln826Glu)
c.3823C>G (p.Gln1275Glu)
n.3897C>G
ClinVar dbSNP
7g.116783437C>TCA368991957METc.*1371C>T (n.*1371C>T)
c.3820C>T (p.Gln1274Ter)
c.3766C>T (p.Gln1256Ter)
c.2476C>T (p.Gln826Ter)
c.3823C>T (p.Gln1275Ter)
n.3897C>T
dbSNP
7g.116783438A>CCA368991960METc.*1372A>C (n.*1372A>C)
c.3821A>C (p.Gln1274Pro)
c.3767A>C (p.Gln1256Pro)
c.2477A>C (p.Gln826Pro)
c.3824A>C (p.Gln1275Pro)
n.3898A>C
7g.116783438A>GCA368991961METc.*1372A>G (n.*1372A>G)
c.3821A>G (p.Gln1274Arg)
c.3767A>G (p.Gln1256Arg)
c.2477A>G (p.Gln826Arg)
c.3824A>G (p.Gln1275Arg)
n.3898A>G
ClinVar dbSNP
7g.116783438A>TCA368991963METc.*1372A>T (n.*1372A>T)
c.3821A>T (p.Gln1274Leu)
c.3767A>T (p.Gln1256Leu)
c.2477A>T (p.Gln826Leu)
c.3824A>T (p.Gln1275Leu)
n.3898A>T
7g.116783439A>CCA368991965METc.*1373A>C (n.*1373A>C)
c.3822A>C (p.Gln1274His)
c.3768A>C (p.Gln1256His)
c.2478A>C (p.Gln826His)
c.3825A>C (p.Gln1275His)
n.3899A>C
dbSNP
7g.116783439A>GCA457219533METc.*1373A>G (n.*1373A>G)
c.3822A>G (p.Gln1274=)
c.3768A>G (p.Gln1256=)
c.2478A>G (p.Gln826=)
c.3825A>G (p.Gln1275=)
n.3899A>G
dbSNP
7g.116783439A>TCA368991967METc.*1373A>T (n.*1373A>T)
c.3822A>T (p.Gln1274His)
c.3768A>T (p.Gln1256His)
c.2478A>T (p.Gln826His)
c.3825A>T (p.Gln1275His)
n.3899A>T
dbSNP
7g.116783440A>CCA368991969METc.*1374A>C (n.*1374A>C)
c.3823A>C (p.Thr1275Pro)
c.3769A>C (p.Thr1257Pro)
c.2479A>C (p.Thr827Pro)
c.3826A>C (p.Thr1276Pro)
n.3900A>C
7g.116783440A>GCA368991970METc.*1374A>G (n.*1374A>G)
c.3823A>G (p.Thr1275Ala)
c.3769A>G (p.Thr1257Ala)
c.2479A>G (p.Thr827Ala)
c.3826A>G (p.Thr1276Ala)
n.3900A>G
7g.116783440A>TCA368991971METc.*1374A>T (n.*1374A>T)
c.3823A>T (p.Thr1275Ser)
c.3769A>T (p.Thr1257Ser)
c.2479A>T (p.Thr827Ser)
c.3826A>T (p.Thr1276Ser)
n.3900A>T
dbSNP
7g.116783441C>ACA368991972METc.*1375C>A (n.*1375C>A)
c.3824C>A (p.Thr1275Asn)
c.3770C>A (p.Thr1257Asn)
c.2480C>A (p.Thr827Asn)
c.3827C>A (p.Thr1276Asn)
n.3901C>A
dbSNP
7g.116783441C>GCA368991974METc.*1375C>G (n.*1375C>G)
c.3824C>G (p.Thr1275Ser)
c.3770C>G (p.Thr1257Ser)
c.2480C>G (p.Thr827Ser)
c.3827C>G (p.Thr1276Ser)
n.3901C>G
dbSNP
7g.116783441C>TCA368991975METc.*1375C>T (n.*1375C>T)
c.3824C>T (p.Thr1275Ile)
c.3770C>T (p.Thr1257Ile)
c.2480C>T (p.Thr827Ile)
c.3827C>T (p.Thr1276Ile)
n.3901C>T
dbSNP gnomAD v4
7g.116783442T>ACA457219534METc.*1376T>A (n.*1376T>A)
c.3825T>A (p.Thr1275=)
c.3771T>A (p.Thr1257=)
c.2481T>A (p.Thr827=)
c.3828T>A (p.Thr1276=)
n.3902T>A
dbSNP
7g.116783442T>CCA457219535METc.*1376T>C (n.*1376T>C)
c.3825T>C (p.Thr1275=)
c.3771T>C (p.Thr1257=)
c.2481T>C (p.Thr827=)
c.3828T>C (p.Thr1276=)
n.3902T>C
dbSNP
7g.116783442T>GCA457219536METc.*1376T>G (n.*1376T>G)
c.3825T>G (p.Thr1275=)
c.3771T>G (p.Thr1257=)
c.2481T>G (p.Thr827=)
c.3828T>G (p.Thr1276=)
n.3902T>G
7g.116783443C>ACA368991979METc.*1377C>A (n.*1377C>A)
c.3826C>A (p.Gln1276Lys)
c.3772C>A (p.Gln1258Lys)
c.2482C>A (p.Gln828Lys)
c.3829C>A (p.Gln1277Lys)
n.3903C>A
7g.116783443C=CA1737014641METc.*1377C= (n.*1377C=)
c.3826C= (p.Gln1276=)
c.3772C= (p.Gln1258=)
c.2482C= (p.Gln828=)
c.3829C= (p.Gln1277=)
n.3903C=
7g.116783443C>GCA368991978METc.*1377C>G (n.*1377C>G)
c.3826C>G (p.Gln1276Glu)
c.3772C>G (p.Gln1258Glu)
c.2482C>G (p.Gln828Glu)
c.3829C>G (p.Gln1277Glu)
n.3903C>G
7g.116783443C>TCA368991976METc.*1377C>T (n.*1377C>T)
c.3826C>T (p.Gln1276Ter)
c.3772C>T (p.Gln1258Ter)
c.2482C>T (p.Gln828Ter)
c.3829C>T (p.Gln1277Ter)
n.3903C>T
ClinVar dbSNP
7g.116783444A>CCA368991981METc.*1378A>C (n.*1378A>C)
c.3827A>C (p.Gln1276Pro)
c.3773A>C (p.Gln1258Pro)
c.2483A>C (p.Gln828Pro)
c.3830A>C (p.Gln1277Pro)
n.3904A>C
7g.116783444A>GCA368991982METc.*1378A>G (n.*1378A>G)
c.3827A>G (p.Gln1276Arg)
c.3773A>G (p.Gln1258Arg)
c.2483A>G (p.Gln828Arg)
c.3830A>G (p.Gln1277Arg)
n.3904A>G
dbSNP
7g.116783444A>TCA368991984METc.*1378A>T (n.*1378A>T)
c.3827A>T (p.Gln1276Leu)
c.3773A>T (p.Gln1258Leu)
c.2483A>T (p.Gln828Leu)
c.3830A>T (p.Gln1277Leu)
n.3904A>T
dbSNP
7g.116783446_116783447delCA2580076306METc.*1380_*1381del (n.*1380_*1381del)
c.3829_3830del (p.Lys1277ValfsTer27)
c.3775_3776del (p.Lys1259ValfsTer27)
c.2485_2486del (p.Lys829ValfsTer27)
c.3832_3833del (p.Lys1278ValfsTer27)
n.3906_3907del
ClinVar dbSNP
7g.116783445A=CA1737014644METc.*1379A= (n.*1379A=)
c.3828A= (p.Gln1276=)
c.3774A= (p.Gln1258=)
c.2484A= (p.Gln828=)
c.3831A= (p.Gln1277=)
n.3905A=
7g.116783445A>CCA368991986METc.*1379A>C (n.*1379A>C)
c.3828A>C (p.Gln1276His)
c.3774A>C (p.Gln1258His)
c.2484A>C (p.Gln828His)
c.3831A>C (p.Gln1277His)
n.3905A>C
7g.116783445A>GCA164910998METc.*1379A>G (n.*1379A>G)
c.3828A>G (p.Gln1276=)
c.3774A>G (p.Gln1258=)
c.2484A>G (p.Gln828=)
c.3831A>G (p.Gln1277=)
n.3905A>G
dbSNP
7g.116783445A>TCA368991988METc.*1379A>T (n.*1379A>T)
c.3828A>T (p.Gln1276His)
c.3774A>T (p.Gln1258His)
c.2484A>T (p.Gln828His)
c.3831A>T (p.Gln1277His)
n.3905A>T
7g.116783446A>CCA368991990METc.*1380A>C (n.*1380A>C)
c.3829A>C (p.Lys1277Gln)
c.3775A>C (p.Lys1259Gln)
c.2485A>C (p.Lys829Gln)
c.3832A>C (p.Lys1278Gln)
n.3906A>C
7g.116783446A>GCA368991991METc.*1380A>G (n.*1380A>G)
c.3829A>G (p.Lys1277Glu)
c.3775A>G (p.Lys1259Glu)
c.2485A>G (p.Lys829Glu)
c.3832A>G (p.Lys1278Glu)
n.3906A>G
7g.116783446A>TCA368991992METc.*1380A>T (n.*1380A>T)
c.3829A>T (p.Lys1277Ter)
c.3775A>T (p.Lys1259Ter)
c.2485A>T (p.Lys829Ter)
c.3832A>T (p.Lys1278Ter)
n.3906A>T
7g.116783447A=CA1737014646METc.*1381A= (n.*1381A=)
c.3830A= (p.Lys1277=)
c.3776A= (p.Lys1259=)
c.2486A= (p.Lys829=)
c.3833A= (p.Lys1278=)
n.3907A=
7g.116783447A>CCA368991994METc.*1381A>C (n.*1381A>C)
c.3830A>C (p.Lys1277Thr)
c.3776A>C (p.Lys1259Thr)
c.2486A>C (p.Lys829Thr)
c.3833A>C (p.Lys1278Thr)
n.3907A>C
7g.116783447A>GCA368991996METc.*1381A>G (n.*1381A>G)
c.3830A>G (p.Lys1277Arg)
c.3776A>G (p.Lys1259Arg)
c.2486A>G (p.Lys829Arg)
c.3833A>G (p.Lys1278Arg)
n.3907A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.116783447A>TCA368991998METc.*1381A>T (n.*1381A>T)
c.3830A>T (p.Lys1277Met)
c.3776A>T (p.Lys1259Met)
c.2486A>T (p.Lys829Met)
c.3833A>T (p.Lys1278Met)
n.3907A>T
dbSNP
7g.116783448G>ACA457219540METc.*1382G>A (n.*1382G>A)
c.3831G>A (p.Lys1277=)
c.3777G>A (p.Lys1259=)
c.2487G>A (p.Lys829=)
c.3834G>A (p.Lys1278=)
n.3908G>A
7g.116783448G>CCA368992000METc.*1382G>C (n.*1382G>C)
c.3831G>C (p.Lys1277Asn)
c.3777G>C (p.Lys1259Asn)
c.2487G>C (p.Lys829Asn)
c.3834G>C (p.Lys1278Asn)
n.3908G>C
7g.116783448G>TCA368992002METc.*1382G>T (n.*1382G>T)
c.3831G>T (p.Lys1277Asn)
c.3777G>T (p.Lys1259Asn)
c.2487G>T (p.Lys829Asn)
c.3834G>T (p.Lys1278Asn)
n.3908G>T
7g.116783449T>ACA368992003METc.*1383T>A (n.*1383T>A)
c.3832T>A (p.Phe1278Ile)
c.3778T>A (p.Phe1260Ile)
c.2488T>A (p.Phe830Ile)
c.3835T>A (p.Phe1279Ile)
n.3909T>A
dbSNP
7g.116783449T>CCA368992005METc.*1383T>C (n.*1383T>C)
c.3832T>C (p.Phe1278Leu)
c.3778T>C (p.Phe1260Leu)
c.2488T>C (p.Phe830Leu)
c.3835T>C (p.Phe1279Leu)
n.3909T>C
ClinVar
7g.116783449T>GCA368992006METc.*1383T>G (n.*1383T>G)
c.3832T>G (p.Phe1278Val)
c.3778T>G (p.Phe1260Val)
c.2488T>G (p.Phe830Val)
c.3835T>G (p.Phe1279Val)
n.3909T>G
dbSNP
7g.116783451delCA2715553278METc.*1385del (n.*1385del)
c.3834del (p.Phe1278LeufsTer17)
c.3780del (p.Phe1260LeufsTer17)
c.2490del (p.Phe830LeufsTer17)
c.3837del (p.Phe1279LeufsTer17)
n.3911del
dbSNP
7g.116783450T>ACA368992008METc.*1384T>A (n.*1384T>A)
c.3833T>A (p.Phe1278Tyr)
c.3779T>A (p.Phe1260Tyr)
c.2489T>A (p.Phe830Tyr)
c.3836T>A (p.Phe1279Tyr)
n.3910T>A
dbSNP
7g.116783450T>CCA368992010METc.*1384T>C (n.*1384T>C)
c.3833T>C (p.Phe1278Ser)
c.3779T>C (p.Phe1260Ser)
c.2489T>C (p.Phe830Ser)
c.3836T>C (p.Phe1279Ser)
n.3910T>C
7g.116783450T>GCA368992013METc.*1384T>G (n.*1384T>G)
c.3833T>G (p.Phe1278Cys)
c.3779T>G (p.Phe1260Cys)
c.2489T>G (p.Phe830Cys)
c.3836T>G (p.Phe1279Cys)
n.3910T>G
7g.116783451T>ACA368992016METc.*1385T>A (n.*1385T>A)
c.3834T>A (p.Phe1278Leu)
c.3780T>A (p.Phe1260Leu)
c.2490T>A (p.Phe830Leu)
c.3837T>A (p.Phe1279Leu)
n.3911T>A
dbSNP
7g.116783451T>CCA457219541METc.*1385T>C (n.*1385T>C)
c.3834T>C (p.Phe1278=)
c.3780T>C (p.Phe1260=)
c.2490T>C (p.Phe830=)
c.3837T>C (p.Phe1279=)
n.3911T>C
7g.116783451T>GCA368992014METc.*1385T>G (n.*1385T>G)
c.3834T>G (p.Phe1278Leu)
c.3780T>G (p.Phe1260Leu)
c.2490T>G (p.Phe830Leu)
c.3837T>G (p.Phe1279Leu)
n.3911T>G
7g.116783452A=CA1737014652METc.*1386A= (n.*1386A=)
c.3835A= (p.Thr1279=)
c.3781A= (p.Thr1261=)
c.2491A= (p.Thr831=)
c.3838A= (p.Thr1280=)
n.3912A=
7g.116783452A>CCA368992018METc.*1386A>C (n.*1386A>C)
c.3835A>C (p.Thr1279Pro)
c.3781A>C (p.Thr1261Pro)
c.2491A>C (p.Thr831Pro)
c.3838A>C (p.Thr1280Pro)
n.3912A>C
dbSNP
7g.116783452A>GCA164910999METc.*1386A>G (n.*1386A>G)
c.3835A>G (p.Thr1279Ala)
c.3781A>G (p.Thr1261Ala)
c.2491A>G (p.Thr831Ala)
c.3838A>G (p.Thr1280Ala)
n.3912A>G
dbSNP gnomAD v3 gnomAD v4
7g.116783452A>TCA368992020METc.*1386A>T (n.*1386A>T)
c.3835A>T (p.Thr1279Ser)
c.3781A>T (p.Thr1261Ser)
c.2491A>T (p.Thr831Ser)
c.3838A>T (p.Thr1280Ser)
n.3912A>T
ClinVar dbSNP
7g.116783453C>ACA368992022METc.*1387C>A (n.*1387C>A)
c.3836C>A (p.Thr1279Asn)
c.3782C>A (p.Thr1261Asn)
c.2492C>A (p.Thr831Asn)
c.3839C>A (p.Thr1280Asn)
n.3913C>A
dbSNP
7g.116783453C=CA1737014656METc.*1387C= (n.*1387C=)
c.3836C= (p.Thr1279=)
c.3782C= (p.Thr1261=)
c.2492C= (p.Thr831=)
c.3839C= (p.Thr1280=)
n.3913C=
7g.116783453C>GCA368992023METc.*1387C>G (n.*1387C>G)
c.3836C>G (p.Thr1279Ser)
c.3782C>G (p.Thr1261Ser)
c.2492C>G (p.Thr831Ser)
c.3839C>G (p.Thr1280Ser)
n.3913C>G
dbSNP
7g.116783453C>TCA368992025METc.*1387C>T (n.*1387C>T)
c.3836C>T (p.Thr1279Ile)
c.3782C>T (p.Thr1261Ile)
c.2492C>T (p.Thr831Ile)
c.3839C>T (p.Thr1280Ile)
n.3913C>T
dbSNP
7g.116783454C>ACA457219544METc.*1388C>A (n.*1388C>A)
c.3837C>A (p.Thr1279=)
c.3783C>A (p.Thr1261=)
c.2493C>A (p.Thr831=)
c.3840C>A (p.Thr1280=)
n.3914C>A
dbSNP
7g.116783454C=CA1737014659METc.*1388C= (n.*1388C=)
c.3837C= (p.Thr1279=)
c.3783C= (p.Thr1261=)
c.2493C= (p.Thr831=)
c.3840C= (p.Thr1280=)
n.3914C=
7g.116783454C>GCA457219542METc.*1388C>G (n.*1388C>G)
c.3837C>G (p.Thr1279=)
c.3783C>G (p.Thr1261=)
c.2493C>G (p.Thr831=)
c.3840C>G (p.Thr1280=)
n.3914C>G
ClinVar dbSNP gnomAD v4
7g.116783454C>TCA457219543METc.*1388C>T (n.*1388C>T)
c.3837C>T (p.Thr1279=)
c.3783C>T (p.Thr1261=)
c.2493C>T (p.Thr831=)
c.3840C>T (p.Thr1280=)
n.3914C>T
dbSNP gnomAD v3 gnomAD v4
7g.116783455A>CCA368992028METc.*1389A>C (n.*1389A>C)
c.3838A>C (p.Thr1280Pro)
c.3784A>C (p.Thr1262Pro)
c.2494A>C (p.Thr832Pro)
c.3841A>C (p.Thr1281Pro)
n.3915A>C
ClinVar
7g.116783455A>GCA368992031METc.*1389A>G (n.*1389A>G)
c.3838A>G (p.Thr1280Ala)
c.3784A>G (p.Thr1262Ala)
c.2494A>G (p.Thr832Ala)
c.3841A>G (p.Thr1281Ala)
n.3915A>G
ClinVar
7g.116783455A>TCA368992029METc.*1389A>T (n.*1389A>T)
c.3838A>T (p.Thr1280Ser)
c.3784A>T (p.Thr1262Ser)
c.2494A>T (p.Thr832Ser)
c.3841A>T (p.Thr1281Ser)
n.3915A>T
7g.116783456C>ACA368992033METc.*1390C>A (n.*1390C>A)
c.3839C>A (p.Thr1280Asn)
c.3785C>A (p.Thr1262Asn)
c.2495C>A (p.Thr832Asn)
c.3842C>A (p.Thr1281Asn)
n.3916C>A
dbSNP
7g.116783456C>GCA368992034METc.*1390C>G (n.*1390C>G)
c.3839C>G (p.Thr1280Ser)
c.3785C>G (p.Thr1262Ser)
c.2495C>G (p.Thr832Ser)
c.3842C>G (p.Thr1281Ser)
n.3916C>G
dbSNP
7g.116783456C>TCA368992035METc.*1390C>T (n.*1390C>T)
c.3839C>T (p.Thr1280Ile)
c.3785C>T (p.Thr1262Ile)
c.2495C>T (p.Thr832Ile)
c.3842C>T (p.Thr1281Ile)
n.3916C>T
dbSNP
7g.116783457C>ACA4448770METc.*1391C>A (n.*1391C>A)
c.3840C>A (p.Thr1280=)
c.3786C>A (p.Thr1262=)
c.2496C>A (p.Thr832=)
c.3843C>A (p.Thr1281=)
n.3917C>A
dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783457C=CA1737014663METc.*1391C= (n.*1391C=)
c.3840C= (p.Thr1280=)
c.3786C= (p.Thr1262=)
c.2496C= (p.Thr832=)
c.3843C= (p.Thr1281=)
n.3917C=
7g.116783457C>GCA4448771METc.*1391C>G (n.*1391C>G)
c.3840C>G (p.Thr1280=)
c.3786C>G (p.Thr1262=)
c.2496C>G (p.Thr832=)
c.3843C>G (p.Thr1281=)
n.3917C>G
dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783457C>TCA457219545METc.*1391C>T (n.*1391C>T)
c.3840C>T (p.Thr1280=)
c.3786C>T (p.Thr1262=)
c.2496C>T (p.Thr832=)
c.3843C>T (p.Thr1281=)
n.3917C>T
7g.116783458A>CCA368992037METc.*1392A>C (n.*1392A>C)
c.3841A>C (p.Lys1281Gln)
c.3787A>C (p.Lys1263Gln)
c.2497A>C (p.Lys833Gln)
c.3844A>C (p.Lys1282Gln)
n.3918A>C
7g.116783458A>GCA368992038METc.*1392A>G (n.*1392A>G)
c.3841A>G (p.Lys1281Glu)
c.3787A>G (p.Lys1263Glu)
c.2497A>G (p.Lys833Glu)
c.3844A>G (p.Lys1282Glu)
n.3918A>G
7g.116783458A>TCA368992039METc.*1392A>T (n.*1392A>T)
c.3841A>T (p.Lys1281Ter)
c.3787A>T (p.Lys1263Ter)
c.2497A>T (p.Lys833Ter)
c.3844A>T (p.Lys1282Ter)
n.3918A>T
7g.116783459A>CCA368992040METc.*1393A>C (n.*1393A>C)
c.3842A>C (p.Lys1281Thr)
c.3788A>C (p.Lys1263Thr)
c.2498A>C (p.Lys833Thr)
c.3845A>C (p.Lys1282Thr)
n.3919A>C
7g.116783459A>GCA368992042METc.*1393A>G (n.*1393A>G)
c.3842A>G (p.Lys1281Arg)
c.3788A>G (p.Lys1263Arg)
c.2498A>G (p.Lys833Arg)
c.3845A>G (p.Lys1282Arg)
n.3919A>G
7g.116783459A>TCA368992043METc.*1393A>T (n.*1393A>T)
c.3842A>T (p.Lys1281Met)
c.3788A>T (p.Lys1263Met)
c.2498A>T (p.Lys833Met)
c.3845A>T (p.Lys1282Met)
n.3919A>T
dbSNP
7g.116783460G>ACA457219546METc.*1394G>A (n.*1394G>A)
c.3843G>A (p.Lys1281=)
c.3789G>A (p.Lys1263=)
c.2499G>A (p.Lys833=)
c.3846G>A (p.Lys1282=)
n.3920G>A
ClinVar dbSNP
7g.116783460G>CCA368992045METc.*1394G>C (n.*1394G>C)
c.3843G>C (p.Lys1281Asn)
c.3789G>C (p.Lys1263Asn)
c.2499G>C (p.Lys833Asn)
c.3846G>C (p.Lys1282Asn)
n.3920G>C
dbSNP
7g.116783460G>TCA368992044METc.*1394G>T (n.*1394G>T)
c.3843G>T (p.Lys1281Asn)
c.3789G>T (p.Lys1263Asn)
c.2499G>T (p.Lys833Asn)
c.3846G>T (p.Lys1282Asn)
n.3920G>T
gnomAD v4
7g.116783461T>ACA368992047METc.*1395T>A (n.*1395T>A)
c.3844T>A (p.Ser1282Thr)
c.3790T>A (p.Ser1264Thr)
c.2500T>A (p.Ser834Thr)
c.3847T>A (p.Ser1283Thr)
n.3921T>A
ClinVar dbSNP
7g.116783461T>CCA368992050METc.*1395T>C (n.*1395T>C)
c.3844T>C (p.Ser1282Pro)
c.3790T>C (p.Ser1264Pro)
c.2500T>C (p.Ser834Pro)
c.3847T>C (p.Ser1283Pro)
n.3921T>C
ClinVar dbSNP
7g.116783461T>GCA368992048METc.*1395T>G (n.*1395T>G)
c.3844T>G (p.Ser1282Ala)
c.3790T>G (p.Ser1264Ala)
c.2500T>G (p.Ser834Ala)
c.3847T>G (p.Ser1283Ala)
n.3921T>G
dbSNP
7g.116783461T=CA1737014672METc.*1395T= (n.*1395T=)
c.3844T= (p.Ser1282=)
c.3790T= (p.Ser1264=)
c.2500T= (p.Ser834=)
c.3847T= (p.Ser1283=)
n.3921T=
7g.116783462C>ACA368992051METc.*1396C>A (n.*1396C>A)
c.3845C>A (p.Ser1282Ter)
c.3791C>A (p.Ser1264Ter)
c.2501C>A (p.Ser834Ter)
c.3848C>A (p.Ser1283Ter)
n.3922C>A
dbSNP
7g.116783462C>GCA368992053METc.*1396C>G (n.*1396C>G)
c.3845C>G (p.Ser1282Ter)
c.3791C>G (p.Ser1264Ter)
c.2501C>G (p.Ser834Ter)
c.3848C>G (p.Ser1283Ter)
n.3922C>G
dbSNP
7g.116783462C>TCA368992052METc.*1396C>T (n.*1396C>T)
c.3845C>T (p.Ser1282Leu)
c.3791C>T (p.Ser1264Leu)
c.2501C>T (p.Ser834Leu)
c.3848C>T (p.Ser1283Leu)
n.3922C>T
dbSNP
7g.116783463A=CA1737014675METc.*1397A= (n.*1397A=)
c.3846A= (p.Ser1282=)
c.3792A= (p.Ser1264=)
c.2502A= (p.Ser834=)
c.3849A= (p.Ser1283=)
n.3923A=
7g.116783463A>CCA457219550METc.*1397A>C (n.*1397A>C)
c.3846A>C (p.Ser1282=)
c.3792A>C (p.Ser1264=)
c.2502A>C (p.Ser834=)
c.3849A>C (p.Ser1283=)
n.3923A>C
dbSNP
7g.116783463A>GCA457219551METc.*1397A>G (n.*1397A>G)
c.3846A>G (p.Ser1282=)
c.3792A>G (p.Ser1264=)
c.2502A>G (p.Ser834=)
c.3849A>G (p.Ser1283=)
n.3923A>G
dbSNP
7g.116783463A>TCA457219552METc.*1397A>T (n.*1397A>T)
c.3846A>T (p.Ser1282=)
c.3792A>T (p.Ser1264=)
c.2502A>T (p.Ser834=)
c.3849A>T (p.Ser1283=)
n.3923A>T
7g.116783464G>ACA368992054METc.*1398G>A (n.*1398G>A)
c.3847G>A (p.Asp1283Asn)
c.3793G>A (p.Asp1265Asn)
c.2503G>A (p.Asp835Asn)
c.3850G>A (p.Asp1284Asn)
n.3924G>A
ClinVar dbSNP
7g.116783464G>CCA368992055METc.*1398G>C (n.*1398G>C)
c.3847G>C (p.Asp1283His)
c.3793G>C (p.Asp1265His)
c.2503G>C (p.Asp835His)
c.3850G>C (p.Asp1284His)
n.3924G>C
dbSNP
7g.116783464G=CA1737014679METc.*1398G= (n.*1398G=)
c.3847G= (p.Asp1283=)
c.3793G= (p.Asp1265=)
c.2503G= (p.Asp835=)
c.3850G= (p.Asp1284=)
n.3924G=
7g.116783464G>TCA164911005METc.*1398G>T (n.*1398G>T)
c.3847G>T (p.Asp1283Tyr)
c.3793G>T (p.Asp1265Tyr)
c.2503G>T (p.Asp835Tyr)
c.3850G>T (p.Asp1284Tyr)
n.3924G>T
dbSNP
7g.116783465A>CCA368992056METc.*1399A>C (n.*1399A>C)
c.3848A>C (p.Asp1283Ala)
c.3794A>C (p.Asp1265Ala)
c.2504A>C (p.Asp835Ala)
c.3851A>C (p.Asp1284Ala)
n.3925A>C
7g.116783465A>GCA368992058METc.*1399A>G (n.*1399A>G)
c.3848A>G (p.Asp1283Gly)
c.3794A>G (p.Asp1265Gly)
c.2504A>G (p.Asp835Gly)
c.3851A>G (p.Asp1284Gly)
n.3925A>G
dbSNP
7g.116783465A>TCA368992057METc.*1399A>T (n.*1399A>T)
c.3848A>T (p.Asp1283Val)
c.3794A>T (p.Asp1265Val)
c.2504A>T (p.Asp835Val)
c.3851A>T (p.Asp1284Val)
n.3925A>T
ClinVar dbSNP gnomAD v4
7g.116783466T>ACA368992059METc.*1400T>A (n.*1400T>A)
c.3849T>A (p.Asp1283Glu)
c.3795T>A (p.Asp1265Glu)
c.2505T>A (p.Asp835Glu)
c.3852T>A (p.Asp1284Glu)
n.3926T>A
dbSNP
7g.116783466T>CCA457219555METc.*1400T>C (n.*1400T>C)
c.3849T>C (p.Asp1283=)
c.3795T>C (p.Asp1265=)
c.2505T>C (p.Asp835=)
c.3852T>C (p.Asp1284=)
n.3926T>C
ClinVar dbSNP gnomAD v4
7g.116783466T>GCA368992060METc.*1400T>G (n.*1400T>G)
c.3849T>G (p.Asp1283Glu)
c.3795T>G (p.Asp1265Glu)
c.2505T>G (p.Asp835Glu)
c.3852T>G (p.Asp1284Glu)
n.3926T>G
7g.116783467G>ACA368992062METc.*1401G>A (n.*1401G>A)
c.3850G>A (p.Val1284Met)
c.3796G>A (p.Val1266Met)
c.2506G>A (p.Val836Met)
c.3853G>A (p.Val1285Met)
n.3927G>A
dbSNP gnomAD v4 COSMIC
7g.116783467G>CCA368992064METc.*1401G>C (n.*1401G>C)
c.3850G>C (p.Val1284Leu)
c.3796G>C (p.Val1266Leu)
c.2506G>C (p.Val836Leu)
c.3853G>C (p.Val1285Leu)
n.3927G>C
dbSNP
7g.116783467G>TCA368992065METc.*1401G>T (n.*1401G>T)
c.3850G>T (p.Val1284Leu)
c.3796G>T (p.Val1266Leu)
c.2506G>T (p.Val836Leu)
c.3853G>T (p.Val1285Leu)
n.3927G>T
7g.116783468T>ACA368992067METc.*1402T>A (n.*1402T>A)
c.3851T>A (p.Val1284Glu)
c.3797T>A (p.Val1266Glu)
c.2507T>A (p.Val836Glu)
c.3854T>A (p.Val1285Glu)
n.3928T>A
ClinVar dbSNP
7g.116783468T>CCA368992068METc.*1402T>C (n.*1402T>C)
c.3851T>C (p.Val1284Ala)
c.3797T>C (p.Val1266Ala)
c.2507T>C (p.Val836Ala)
c.3854T>C (p.Val1285Ala)
n.3928T>C
COSMIC
7g.116783468T>GCA368992069METc.*1402T>G (n.*1402T>G)
c.3851T>G (p.Val1284Gly)
c.3797T>G (p.Val1266Gly)
c.2507T>G (p.Val836Gly)
c.3854T>G (p.Val1285Gly)
n.3928T>G
7g.116783469G>ACA457219556METc.*1403G>A (n.*1403G>A)
c.3852G>A (p.Val1284=)
c.3798G>A (p.Val1266=)
c.2508G>A (p.Val836=)
c.3855G>A (p.Val1285=)
n.3929G>A
dbSNP
7g.116783469G>CCA457219557METc.*1403G>C (n.*1403G>C)
c.3852G>C (p.Val1284=)
c.3798G>C (p.Val1266=)
c.2508G>C (p.Val836=)
c.3855G>C (p.Val1285=)
n.3929G>C
dbSNP
7g.116783469G>TCA457219558METc.*1403G>T (n.*1403G>T)
c.3852G>T (p.Val1284=)
c.3798G>T (p.Val1266=)
c.2508G>T (p.Val836=)
c.3855G>T (p.Val1285=)
n.3929G>T
dbSNP
7g.116783470G>ACA368992070METc.*1403+1G>A (n.*1403+1G>A)
c.3852+1G>A (n.3852+1G>A)
c.3798+1G>A (n.3798+1G>A)
c.2508+1G>A (n.2508+1G>A)
c.3855+1G>A (n.3855+1G>A)
n.3929+1G>A
ClinVar dbSNP
7g.116783470G>CCA368992071METc.*1403+1G>C (n.*1403+1G>C)
c.3852+1G>C (n.3852+1G>C)
c.3798+1G>C (n.3798+1G>C)
c.2508+1G>C (n.2508+1G>C)
c.3855+1G>C (n.3855+1G>C)
n.3929+1G>C
dbSNP
7g.116783470G=CA1737014687METc.*1403+1G= (n.*1403+1G=)
c.3852+1G= (n.3852+1G=)
c.3798+1G= (n.3798+1G=)
c.2508+1G= (n.2508+1G=)
c.3855+1G= (n.3855+1G=)
n.3929+1G=
7g.116783470G>TCA368992072METc.*1403+1G>T (n.*1403+1G>T)
c.3852+1G>T (n.3852+1G>T)
c.3798+1G>T (n.3798+1G>T)
c.2508+1G>T (n.2508+1G>T)
c.3855+1G>T (n.3855+1G>T)
n.3929+1G>T
dbSNP
7g.116783471T>ACA368992078METc.*1403+2T>A (n.*1403+2T>A)
c.3852+2T>A (n.3852+2T>A)
c.3798+2T>A (n.3798+2T>A)
c.2508+2T>A (n.2508+2T>A)
c.3855+2T>A (n.3855+2T>A)
n.3929+2T>A
dbSNP
7g.116783471T>CCA368992076METc.*1403+2T>C (n.*1403+2T>C)
c.3852+2T>C (n.3852+2T>C)
c.3798+2T>C (n.3798+2T>C)
c.2508+2T>C (n.2508+2T>C)
c.3855+2T>C (n.3855+2T>C)
n.3929+2T>C
dbSNP
7g.116783471T>GCA368992074METc.*1403+2T>G (n.*1403+2T>G)
c.3852+2T>G (n.3852+2T>G)
c.3798+2T>G (n.3798+2T>G)
c.2508+2T>G (n.2508+2T>G)
c.3855+2T>G (n.3855+2T>G)
n.3929+2T>G
7g.116783472A>CCA2715553281METc.*1403+3A>C (n.*1403+3A>C)
c.3852+3A>C (n.3852+3A>C)
c.3798+3A>C (n.3798+3A>C)
c.2508+3A>C (n.2508+3A>C)
c.3855+3A>C (n.3855+3A>C)
n.3929+3A>C
dbSNP
7g.116783472A>GCA2715553280METc.*1403+3A>G (n.*1403+3A>G)
c.3852+3A>G (n.3852+3A>G)
c.3798+3A>G (n.3798+3A>G)
c.2508+3A>G (n.2508+3A>G)
c.3855+3A>G (n.3855+3A>G)
n.3929+3A>G
dbSNP
7g.116783473A>GCA2715553282METc.*1403+4A>G (n.*1403+4A>G)
c.3852+4A>G (n.3852+4A>G)
c.3798+4A>G (n.3798+4A>G)
c.2508+4A>G (n.2508+4A>G)
c.3855+4A>G (n.3855+4A>G)
n.3929+4A>G
dbSNP
7g.116783473A>TCA645567318METc.*1403+4A>T (n.*1403+4A>T)
c.3852+4A>T (n.3852+4A>T)
c.3798+4A>T (n.3798+4A>T)
c.2508+4A>T (n.2508+4A>T)
c.3855+4A>T (n.3855+4A>T)
n.3929+4A>T
dbSNP COSMIC
7g.116783474T>ACA2715292011METc.*1403+5T>A (n.*1403+5T>A)
c.3852+5T>A (n.3852+5T>A)
c.3798+5T>A (n.3798+5T>A)
c.2508+5T>A (n.2508+5T>A)
c.3855+5T>A (n.3855+5T>A)
n.3929+5T>A
dbSNP
7g.116783474T>CCA189312METc.*1403+5T>C (n.*1403+5T>C)
c.3852+5T>C (n.3852+5T>C)
c.3798+5T>C (n.3798+5T>C)
c.2508+5T>C (n.2508+5T>C)
c.3855+5T>C (n.3855+5T>C)
n.3929+5T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.116783474T>GCA2715292008METc.*1403+5T>G (n.*1403+5T>G)
c.3852+5T>G (n.3852+5T>G)
c.3798+5T>G (n.3798+5T>G)
c.2508+5T>G (n.2508+5T>G)
c.3855+5T>G (n.3855+5T>G)
n.3929+5T>G
dbSNP
7g.116783474T=CA1737014699METc.*1403+5T= (n.*1403+5T=)
c.3852+5T= (n.3852+5T=)
c.3798+5T= (n.3798+5T=)
c.2508+5T= (n.2508+5T=)
c.3855+5T= (n.3855+5T=)
n.3929+5T=
7g.116783475G>ACA2573141536METc.*1403+6G>A (n.*1403+6G>A)
c.3852+6G>A (n.3852+6G>A)
c.3798+6G>A (n.3798+6G>A)
c.2508+6G>A (n.2508+6G>A)
c.3855+6G>A (n.3855+6G>A)
n.3929+6G>A
ClinVar dbSNP gnomAD v4
7g.116783475G>CCA2715553283METc.*1403+6G>C (n.*1403+6G>C)
c.3852+6G>C (n.3852+6G>C)
c.3798+6G>C (n.3798+6G>C)
c.2508+6G>C (n.2508+6G>C)
c.3855+6G>C (n.3855+6G>C)
n.3929+6G>C
dbSNP
7g.116783476T>ACA2715553284METc.*1403+7T>A (n.*1403+7T>A)
c.3852+7T>A (n.3852+7T>A)
c.3798+7T>A (n.3798+7T>A)
c.2508+7T>A (n.2508+7T>A)
c.3855+7T>A (n.3855+7T>A)
n.3929+7T>A
dbSNP
7g.116783476T>CCA2684592656METc.*1403+7T>C (n.*1403+7T>C)
c.3852+7T>C (n.3852+7T>C)
c.3798+7T>C (n.3798+7T>C)
c.2508+7T>C (n.2508+7T>C)
c.3855+7T>C (n.3855+7T>C)
n.3929+7T>C
dbSNP gnomAD v4
7g.116783477A>CCA2715553285METc.*1403+8A>C (n.*1403+8A>C)
c.3852+8A>C (n.3852+8A>C)
c.3798+8A>C (n.3798+8A>C)
c.2508+8A>C (n.2508+8A>C)
c.3855+8A>C (n.3855+8A>C)
n.3929+8A>C
dbSNP
7g.116783477A>TCA2715553286METc.*1403+8A>T (n.*1403+8A>T)
c.3852+8A>T (n.3852+8A>T)
c.3798+8A>T (n.3798+8A>T)
c.2508+8A>T (n.2508+8A>T)
c.3855+8A>T (n.3855+8A>T)
n.3929+8A>T
dbSNP
7g.116783478T>ACA2715297678METc.*1403+9T>A (n.*1403+9T>A)
c.3852+9T>A (n.3852+9T>A)
c.3798+9T>A (n.3798+9T>A)
c.2508+9T>A (n.2508+9T>A)
c.3855+9T>A (n.3855+9T>A)
n.3929+9T>A
dbSNP
7g.116783478T>CCA4448772METc.*1403+9T>C (n.*1403+9T>C)
c.3852+9T>C (n.3852+9T>C)
c.3798+9T>C (n.3798+9T>C)
c.2508+9T>C (n.2508+9T>C)
c.3855+9T>C (n.3855+9T>C)
n.3929+9T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783478T=CA1737014702METc.*1403+9T= (n.*1403+9T=)
c.3852+9T= (n.3852+9T=)
c.3798+9T= (n.3798+9T=)
c.2508+9T= (n.2508+9T=)
c.3855+9T= (n.3855+9T=)
n.3929+9T=
7g.116783479T>ACA2715553287METc.*1403+10T>A (n.*1403+10T>A)
c.3852+10T>A (n.3852+10T>A)
c.3798+10T>A (n.3798+10T>A)
c.2508+10T>A (n.2508+10T>A)
c.3855+10T>A (n.3855+10T>A)
n.3929+10T>A
dbSNP
7g.116783479T>CCA2578998422METc.*1403+10T>C (n.*1403+10T>C)
c.3852+10T>C (n.3852+10T>C)
c.3798+10T>C (n.3798+10T>C)
c.2508+10T>C (n.2508+10T>C)
c.3855+10T>C (n.3855+10T>C)
n.3929+10T>C

Number of alleles fetched