Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67939983_67940001delCA2576033413LCATc.1228_1246del (p.Thr410ProfsTer?)
c.231_249del
c.966_984del (n.966_984del)
16g.67939997G>ACA283160338LCATc.1230C>T (p.Thr410=)
c.233C>T
c.968C>T (n.968C>T)
dbSNP
16g.67939997G>CCA496092454LCATc.1230C>G (p.Thr410=)
c.233C>G
c.968C>G (n.968C>G)
gnomAD v4
16g.67939997G=CA2229563163LCATc.1230C= (p.Thr410=)
c.233C=
c.968C= (n.968C=)
16g.67939997G>TCA496092456LCATc.1230C>A (p.Thr410=)
c.233C>A
c.968C>A (n.968C>A)
gnomAD v4
16g.67939998G>ACA396375413LCATc.1229C>T (p.Thr410Ile)
c.232C>T
c.967C>T (n.967C>T)
16g.67939998G>CCA396375414LCATc.1229C>G (p.Thr410Ser)
c.232C>G
c.967C>G (n.967C>G)
16g.67939998G>TCA396375415LCATc.1229C>A (p.Thr410Asn)
c.232C>A
c.967C>A (n.967C>A)
16g.67939999T>ACA396375416LCATc.1228A>T (p.Thr410Ser)
c.231A>T
c.966A>T (n.966A>T)
16g.67939999T>CCA396375417LCATc.1228A>G (p.Thr410Ala)
c.231A>G
c.966A>G (n.966A>G)
16g.67939999T>GCA396375418LCATc.1228A>C (p.Thr410Pro)
c.231A>C
c.966A>C (n.966A>C)
gnomAD v4
16g.67940000C>ACA496092461LCATc.1227G>T (p.Leu409=)
c.230G>T
c.965G>T (n.965G>T)
16g.67940000C>GCA496092463LCATc.1227G>C (p.Leu409=)
c.230G>C
c.965G>C (n.965G>C)
16g.67940000C>TCA496092466LCATc.1227G>A (p.Leu409=)
c.230G>A
c.965G>A (n.965G>A)
16g.67940001A=CA2229563164LCATc.1226T= (p.Leu409=)
c.229T=
c.964T= (n.964T=)
16g.67940001A>CCA396375419LCATc.1226T>G (p.Leu409Arg)
c.229T>G
c.964T>G (n.964T>G)
16g.67940001A>GCA396375421LCATc.1226T>C (p.Leu409Pro)
c.229T>C
c.964T>C (n.964T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.67940001A>TCA396375420LCATc.1226T>A (p.Leu409Gln)
c.229T>A
c.964T>A (n.964T>A)
16g.67940002G>ACA496092476LCATc.1225C>T (p.Leu409=)
c.228C>T
c.963C>T (n.963C>T)
gnomAD v4
16g.67940002G>CCA396375422LCATc.1225C>G (p.Leu409Val)
c.228C>G
c.963C>G (n.963C>G)
gnomAD v4
16g.67940002G>TCA396375423LCATc.1225C>A (p.Leu409Met)
c.228C>A
c.963C>A (n.963C>A)
16g.67940003G>ACA496092481LCATc.1224C>T (p.Asn408=)
c.227C>T
c.962C>T (n.962C>T)
16g.67940003G>CCA396375424LCATc.1224C>G (p.Asn408Lys)
c.227C>G
c.962C>G (n.962C>G)
16g.67940003G>TCA396375425LCATc.1224C>A (p.Asn408Lys)
c.227C>A
c.962C>A (n.962C>A)
16g.67940004T>ACA396375426LCATc.1223A>T (p.Asn408Ile)
c.226A>T
c.961A>T (n.961A>T)
16g.67940004T>CCA396375428LCATc.1223A>G (p.Asn408Ser)
c.226A>G
c.961A>G (n.961A>G)
ClinVar
16g.67940004T>GCA396375427LCATc.1223A>C (p.Asn408Thr)
c.226A>C
c.961A>C (n.961A>C)
dbSNP
16g.67940004T=CA2229563165LCATc.1223A= (p.Asn408=)
c.226A=
c.961A= (n.961A=)
16g.67940005T>ACA396375429LCATc.1222A>T (p.Asn408Tyr)
c.225A>T
c.960A>T (n.960A>T)
16g.67940005T>CCA396375430LCATc.1222A>G (p.Asn408Asp)
c.225A>G
c.960A>G (n.960A>G)
16g.67940005T>GCA396375431LCATc.1222A>C (p.Asn408His)
c.225A>C
c.960A>C (n.960A>C)
16g.67940006G>ACA496092497LCATc.1221C>T (p.Ser407=)
c.224C>T
c.959C>T (n.959C>T)
16g.67940006G>CCA396375432LCATc.1221C>G (p.Ser407Arg)
c.224C>G
c.959C>G (n.959C>G)
16g.67940006G>TCA396375433LCATc.1221C>A (p.Ser407Arg)
c.224C>A
c.959C>A (n.959C>A)
16g.67940007C>ACA396375434LCATc.1220G>T (p.Ser407Ile)
c.223G>T
c.958G>T (n.958G>T)
16g.67940007C=CA2229563166LCATc.1220G= (p.Ser407=)
c.223G=
c.958G= (n.958G=)
16g.67940007C>GCA396375435LCATc.1220G>C (p.Ser407Thr)
c.223G>C
c.958G>C (n.958G>C)
16g.67940007C>TCA283160358LCATc.1220G>A (p.Ser407Asn)
c.223G>A
c.958G>A (n.958G>A)
dbSNP gnomAD v4
16g.67940008T>ACA396375436LCATc.1219A>T (p.Ser407Cys)
c.222A>T
c.957A>T (n.957A>T)
16g.67940008T>CCA396375437LCATc.1219A>G (p.Ser407Gly)
c.222A>G
c.957A>G (n.957A>G)
gnomAD v4
16g.67940008T>GCA396375438LCATc.1219A>C (p.Ser407Arg)
c.222A>C
c.957A>C (n.957A>C)
gnomAD v4
16g.67940009G>ACA496092505LCATc.1218C>T (p.Phe406=)
c.221C>T
c.956C>T (n.956C>T)
16g.67940009G>CCA396375439LCATc.1218C>G (p.Phe406Leu)
c.221C>G
c.956C>G (n.956C>G)
16g.67940009G>TCA396375440LCATc.1218C>A (p.Phe406Leu)
c.221C>A
c.956C>A (n.956C>A)
16g.67940010A>CCA396375443LCATc.1217T>G (p.Phe406Cys)
c.220T>G
c.955T>G (n.955T>G)
16g.67940010A>GCA396375441LCATc.1217T>C (p.Phe406Ser)
c.220T>C
c.955T>C (n.955T>C)
16g.67940010A>TCA396375442LCATc.1217T>A (p.Phe406Tyr)
c.220T>A
c.955T>A (n.955T>A)
16g.67940011A>CCA396375444LCATc.1216T>G (p.Phe406Val)
c.219T>G
c.954T>G (n.954T>G)
gnomAD v4
16g.67940011A>GCA396375445LCATc.1216T>C (p.Phe406Leu)
c.219T>C
c.954T>C (n.954T>C)
16g.67940011A>TCA396375446LCATc.1216T>A (p.Phe406Ile)
c.219T>A
c.954T>A (n.954T>A)
16g.67940012G>ACA496092510LCATc.1215C>T (p.Val405=)
c.218C>T
c.953C>T (n.953C>T)
16g.67940012G>CCA496092509LCATc.1215C>G (p.Val405=)
c.218C>G
c.953C>G (n.953C>G)
16g.67940012G>TCA496092507LCATc.1215C>A (p.Val405=)
c.218C>A
c.953C>A (n.953C>A)
16g.67940013A>CCA396375447LCATc.1214T>G (p.Val405Gly)
c.217T>G
c.952T>G (n.952T>G)
16g.67940013A>GCA396375448LCATc.1214T>C (p.Val405Ala)
c.217T>C
c.952T>C (n.952T>C)
gnomAD v4
16g.67940013A>TCA396375449LCATc.1214T>A (p.Val405Asp)
c.217T>A
c.952T>A (n.952T>A)
16g.67940014C>ACA396375450LCATc.1213G>T (p.Val405Phe)
c.216G>T
c.951G>T (n.951G>T)
16g.67940014C>GCA396375451LCATc.1213G>C (p.Val405Leu)
c.216G>C
c.951G>C (n.951G>C)
gnomAD v4
16g.67940014C>TCA396375452LCATc.1213G>A (p.Val405Ile)
c.216G>A
c.951G>A (n.951G>A)
gnomAD v4
16g.67940015C>ACA396375453LCATc.1212G>T (p.Met404Ile)
c.215G>T
c.950G>T (n.950G>T)
16g.67940015C>GCA396375454LCATc.1212G>C (p.Met404Ile)
c.215G>C
c.950G>C (n.950G>C)
16g.67940015C>TCA396375455LCATc.1212G>A (p.Met404Ile)
c.215G>A
c.950G>A (n.950G>A)
16g.67940016A>CCA396375456LCATc.1211T>G (p.Met404Arg)
c.214T>G
c.949T>G (n.949T>G)
16g.67940016A>GCA396375458LCATc.1211T>C (p.Met404Thr)
c.214T>C
c.949T>C (n.949T>C)
gnomAD v4
16g.67940016A>TCA396375457LCATc.1211T>A (p.Met404Lys)
c.214T>A
c.949T>A (n.949T>A)
16g.67940017T>ACA396375459LCATc.1210A>T (p.Met404Leu)
c.213A>T
c.948A>T (n.948A>T)
16g.67940017T>CCA8120867LCATc.1210A>G (p.Met404Val)
c.213A>G
c.948A>G (n.948A>G)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.67940017T>GCA396375460LCATc.1210A>C (p.Met404Leu)
c.213A>C
c.948A>C (n.948A>C)
16g.67940017T=CA2229563167LCATc.1210A= (p.Met404=)
c.213A=
c.948A= (n.948A=)
16g.67940018G>ACA496092518LCATc.1209C>T (p.Asn403=)
c.212C>T
c.947C>T (n.947C>T)
dbSNP gnomAD v3 gnomAD v4
16g.67940018G>CCA396375461LCATc.1209C>G (p.Asn403Lys)
c.212C>G
c.947C>G (n.947C>G)
16g.67940018G=CA2229563168LCATc.1209C= (p.Asn403=)
c.212C=
c.947C= (n.947C=)
16g.67940018G>TCA396375462LCATc.1209C>A (p.Asn403Lys)
c.212C>A
c.947C>A (n.947C>A)
16g.67940019T>ACA396375465LCATc.1208A>T (p.Asn403Ile)
c.211A>T
c.946A>T (n.946A>T)
16g.67940019T>CCA396375464LCATc.1208A>G (p.Asn403Ser)
c.211A>G
c.946A>G (n.946A>G)
16g.67940019T>GCA396375463LCATc.1208A>C (p.Asn403Thr)
c.211A>C
c.946A>C (n.946A>C)
16g.67940020T>ACA396375466LCATc.1207A>T (p.Asn403Tyr)
c.210A>T
c.945A>T (n.945A>T)
16g.67940020T>CCA396375467LCATc.1207A>G (p.Asn403Asp)
c.210A>G
c.945A>G (n.945A>G)
16g.67940020T>GCA396375468LCATc.1207A>C (p.Asn403His)
c.210A>C
c.945A>C (n.945A>C)
16g.67940021G>ACA496092520LCATc.1206C>T (p.Leu402=)
c.209C>T
c.944C>T (n.944C>T)
16g.67940021G>CCA496092521LCATc.1206C>G (p.Leu402=)
c.209C>G
c.944C>G (n.944C>G)
16g.67940021G>TCA496092525LCATc.1206C>A (p.Leu402=)
c.209C>A
c.944C>A (n.944C>A)
16g.67940023_67940024delCA2532360751LCATc.1205_1206del (p.Leu402GlnfsTer?)
c.208_209del
c.943_944del (n.943_944del)
16g.67940022A>CCA396375469LCATc.1205T>G (p.Leu402Arg)
c.208T>G
c.943T>G (n.943T>G)
16g.67940022A>GCA396375470LCATc.1205T>C (p.Leu402Pro)
c.208T>C
c.943T>C (n.943T>C)
16g.67940022A>TCA396375471LCATc.1205T>A (p.Leu402His)
c.208T>A
c.943T>A (n.943T>A)
16g.67940023G>ACA396375474LCATc.1204C>T (p.Leu402Phe)
c.207C>T
c.942C>T (n.942C>T)
16g.67940023G>CCA396375472LCATc.1204C>G (p.Leu402Val)
c.207C>G
c.942C>G (n.942C>G)
16g.67940023G>TCA396375473LCATc.1204C>A (p.Leu402Ile)
c.207C>A
c.942C>A (n.942C>A)
16g.67940024A>CCA396375475LCATc.1203T>G (p.His401Gln)
c.206T>G
c.941T>G (n.941T>G)
16g.67940024A>GCA496092533LCATc.1203T>C (p.His401=)
c.206T>C
c.941T>C (n.941T>C)
16g.67940024A>TCA396375476LCATc.1203T>A (p.His401Gln)
c.206T>A
c.941T>A (n.941T>A)
16g.67940025T>ACA396375477LCATc.1202A>T (p.His401Leu)
c.205A>T
c.940A>T (n.940A>T)
16g.67940025T>CCA396375478LCATc.1202A>G (p.His401Arg)
c.205A>G
c.940A>G (n.940A>G)
16g.67940025T>GCA396375479LCATc.1202A>C (p.His401Pro)
c.205A>C
c.940A>C (n.940A>C)
16g.67940026G>ACA396375480LCATc.1201C>T (p.His401Tyr)
c.204C>T
c.939C>T (n.939C>T)
16g.67940026G>CCA396375481LCATc.1201C>G (p.His401Asp)
c.204C>G
c.939C>G (n.939C>G)
16g.67940026G>TCA396375482LCATc.1201C>A (p.His401Asn)
c.204C>A
c.939C>A (n.939C>A)
16g.67940027C>ACA8120868LCATc.1200G>T (p.Gln400His)
c.203G>T
c.938G>T (n.938G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940027C=CA2229563169LCATc.1200G= (p.Gln400=)
c.203G=
c.938G= (n.938G=)
16g.67940027C>GCA396375483LCATc.1200G>C (p.Gln400His)
c.203G>C
c.938G>C (n.938G>C)
16g.67940027C>TCA496092545LCATc.1200G>A (p.Gln400=)
c.203G>A
c.938G>A (n.938G>A)
16g.67940028T>ACA396375484LCATc.1199A>T (p.Gln400Leu)
c.202A>T
c.937A>T (n.937A>T)
16g.67940028T>CCA396375485LCATc.1199A>G (p.Gln400Arg)
c.202A>G
c.937A>G (n.937A>G)
16g.67940028T>GCA396375486LCATc.1199A>C (p.Gln400Pro)
c.202A>C
c.937A>C (n.937A>C)
16g.67940029G>ACA396375487LCATc.1198C>T (p.Gln400Ter)
c.201C>T
c.936C>T (n.936C>T)
dbSNP gnomAD v4
16g.67940029G>CCA396375489LCATc.1198C>G (p.Gln400Glu)
c.201C>G
c.936C>G (n.936C>G)
16g.67940029G=CA2229563170LCATc.1198C= (p.Gln400=)
c.201C=
c.936C= (n.936C=)
16g.67940029G>TCA396375488LCATc.1198C>A (p.Gln400Lys)
c.201C>A
c.936C>A (n.936C>A)
16g.67940030T>ACA496092553LCATc.1197A>T (p.Ile399=)
c.200A>T
c.935A>T (n.935A>T)
16g.67940030T>CCA396375490LCATc.1197A>G (p.Ile399Met)
c.200A>G
c.935A>G (n.935A>G)
16g.67940030T>GCA496092555LCATc.1197A>C (p.Ile399=)
c.200A>C
c.935A>C (n.935A>C)
16g.67940030dupCA116424LCATc.1197dup (p.Gln400ThrfsTer?)
c.200dup
c.935dup (n.935dup)
ClinVar dbSNP
16g.67940031A>CCA396375491LCATc.1196T>G (p.Ile399Arg)
c.199T>G
c.934T>G (n.934T>G)
16g.67940031A>GCA396375492LCATc.1196T>C (p.Ile399Thr)
c.199T>C
c.934T>C (n.934T>C)
16g.67940031A>TCA396375493LCATc.1196T>A (p.Ile399Lys)
c.199T>A
c.934T>A (n.934T>A)
16g.67940032T>ACA396375496LCATc.1195A>T (p.Ile399Leu)
c.198A>T
c.933A>T (n.933A>T)
16g.67940032T>CCA396375495LCATc.1195A>G (p.Ile399Val)
c.198A>G
c.933A>G (n.933A>G)
16g.67940032T>GCA396375494LCATc.1195A>C (p.Ile399Leu)
c.198A>C
c.933A>C (n.933A>C)
16g.67940033C>ACA496092575LCATc.1194G>T (p.Gly398=)
c.197G>T
c.932G>T (n.932G>T)
16g.67940033C=CA2229563171LCATc.1194G= (p.Gly398=)
c.197G=
c.932G= (n.932G=)
16g.67940033C>GCA496092569LCATc.1194G>C (p.Gly398=)
c.197G>C
c.932G>C (n.932G>C)
dbSNP
16g.67940033C>TCA496092573LCATc.1194G>A (p.Gly398=)
c.197G>A
c.932G>A (n.932G>A)
16g.67940034C>ACA396375497LCATc.1193G>T (p.Gly398Val)
c.196G>T
c.931G>T (n.931G>T)
16g.67940034C=CA2229563172LCATc.1193G= (p.Gly398=)
c.196G=
c.931G= (n.931G=)
16g.67940034C>GCA396375498LCATc.1193G>C (p.Gly398Ala)
c.196G>C
c.931G>C (n.931G>C)
16g.67940034C>TCA283160392LCATc.1193G>A (p.Gly398Glu)
c.196G>A
c.931G>A (n.931G>A)
dbSNP gnomAD v4
16g.67940035C>ACA396375499LCATc.1192G>T (p.Gly398Trp)
c.195G>T
c.930G>T (n.930G>T)
16g.67940035C=CA2229563173LCATc.1192G= (p.Gly398=)
c.195G=
c.930G= (n.930G=)
16g.67940035C>GCA396375500LCATc.1192G>C (p.Gly398Arg)
c.195G>C
c.930G>C (n.930G>C)
16g.67940035C>TCA8120869LCATc.1192G>A (p.Gly398Arg)
c.195G>A
c.930G>A (n.930G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940036G>ACA8120870LCATc.1191C>T (p.His397=)
c.194C>T
c.929C>T (n.929C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940036G>CCA396375502LCATc.1191C>G (p.His397Gln)
c.194C>G
c.929C>G (n.929C>G)
16g.67940036G=CA2229563174LCATc.1191C= (p.His397=)
c.194C=
c.929C= (n.929C=)
16g.67940036G>TCA396375501LCATc.1191C>A (p.His397Gln)
c.194C>A
c.929C>A (n.929C>A)
16g.67940037T>ACA396375503LCATc.1190A>T (p.His397Leu)
c.193A>T
c.928A>T (n.928A>T)
gnomAD v4
16g.67940037T>CCA396375504LCATc.1190A>G (p.His397Arg)
c.193A>G
c.928A>G (n.928A>G)
16g.67940037T>GCA396375505LCATc.1190A>C (p.His397Pro)
c.193A>C
c.928A>C (n.928A>C)
16g.67940038G>ACA396375506LCATc.1189C>T (p.His397Tyr)
c.192C>T
c.927C>T (n.927C>T)
16g.67940038G>CCA396375507LCATc.1189C>G (p.His397Asp)
c.192C>G
c.927C>G (n.927C>G)
gnomAD v4
16g.67940038G=CA2229563175LCATc.1189C= (p.His397=)
c.192C=
c.927C= (n.927C=)
16g.67940038G>TCA396375508LCATc.1189C>A (p.His397Asn)
c.192C>A
c.927C>A (n.927C>A)
dbSNP
16g.67940039C>ACA496092601LCATc.1188G>T (p.Leu396=)
c.191G>T
c.926G>T (n.926G>T)
16g.67940039C=CA2229563176LCATc.1188G= (p.Leu396=)
c.191G=
c.926G= (n.926G=)
16g.67940039C>GCA496092603LCATc.1188G>C (p.Leu396=)
c.191G>C
c.926G>C (n.926G>C)
16g.67940039C>TCA283160393LCATc.1188G>A (p.Leu396=)
c.191G>A
c.926G>A (n.926G>A)
ClinVar dbSNP gnomAD v4
16g.67940040A>CCA396375509LCATc.1187T>G (p.Leu396Arg)
c.190T>G
c.925T>G (n.925T>G)
gnomAD v4
16g.67940040A>GCA396375510LCATc.1187T>C (p.Leu396Pro)
c.190T>C
c.925T>C (n.925T>C)
16g.67940040A>TCA396375511LCATc.1187T>A (p.Leu396Gln)
c.190T>A
c.925T>A (n.925T>A)
16g.67940041G>ACA496092618LCATc.1186C>T (p.Leu396=)
c.189C>T
c.924C>T (n.924C>T)
gnomAD v4
16g.67940041G>CCA396375512LCATc.1186C>G (p.Leu396Val)
c.189C>G
c.924C>G (n.924C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940041G=CA2229563177LCATc.1186C= (p.Leu396=)
c.189C=
c.924C= (n.924C=)
16g.67940041G>TCA396375513LCATc.1186C>A (p.Leu396Met)
c.189C>A
c.924C>A (n.924C>A)
dbSNP
16g.67940042G>ACA8120871LCATc.1185C>T (p.Pro395=)
c.188C>T
c.923C>T (n.923C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940042G>CCA496092624LCATc.1185C>G (p.Pro395=)
c.188C>G
c.923C>G (n.923C>G)
16g.67940042G=CA2229563178LCATc.1185C= (p.Pro395=)
c.188C=
c.923C= (n.923C=)
16g.67940042G>TCA496092625LCATc.1185C>A (p.Pro395=)
c.188C>A
c.923C>A (n.923C>A)
dbSNP gnomAD v2
16g.67940043G>ACA396375515LCATc.1184C>T (p.Pro395Leu)
c.187C>T
c.922C>T (n.922C>T)
gnomAD v4
16g.67940043G>CCA396375514LCATc.1184C>G (p.Pro395Arg)
c.187C>G
c.922C>G (n.922C>G)
16g.67940043G>TCA396375516LCATc.1184C>A (p.Pro395His)
c.187C>A
c.922C>A (n.922C>A)
16g.67940044G>ACA396375517LCATc.1183C>T (p.Pro395Ser)
c.186C>T
c.921C>T (n.921C>T)
16g.67940044G>CCA396375519LCATc.1183C>G (p.Pro395Ala)
c.186C>G
c.921C>G (n.921C>G)
gnomAD v4
16g.67940044G>TCA396375518LCATc.1183C>A (p.Pro395Thr)
c.186C>A
c.921C>A (n.921C>A)
16g.67940045C>ACA283160399LCATc.1182G>T (p.Leu394=)
c.185G>T
c.920G>T (n.920G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.67940045C=CA2229563179LCATc.1182G= (p.Leu394=)
c.185G=
c.920G= (n.920G=)
16g.67940045C>GCA496092633LCATc.1182G>C (p.Leu394=)
c.185G>C
c.920G>C (n.920G>C)
16g.67940045C>TCA496092635LCATc.1182G>A (p.Leu394=)
c.185G>A
c.920G>A (n.920G>A)
16g.67940046A>CCA396375520LCATc.1181T>G (p.Leu394Arg)
c.184T>G
c.919T>G (n.919T>G)
16g.67940046A>GCA396375522LCATc.1181T>C (p.Leu394Pro)
c.184T>C
c.919T>C (n.919T>C)
16g.67940046A>TCA396375521LCATc.1181T>A (p.Leu394Gln)
c.184T>A
c.919T>A (n.919T>A)
16g.67940047G>ACA496092640LCATc.1180C>T (p.Leu394=)
c.183C>T
c.918C>T (n.918C>T)
gnomAD v4
16g.67940047G>CCA396375523LCATc.1180C>G (p.Leu394Val)
c.183C>G
c.918C>G (n.918C>G)
16g.67940047G>TCA396375524LCATc.1180C>A (p.Leu394Met)
c.183C>A
c.918C>A (n.918C>A)
16g.67940048C>ACA496092644LCATc.1179G>T (p.Leu393=)
c.182G>T
c.917G>T (n.917G>T)
16g.67940048C>GCA496092645LCATc.1179G>C (p.Leu393=)
c.182G>C
c.917G>C (n.917G>C)
16g.67940048C>TCA496092648LCATc.1179G>A (p.Leu393=)
c.182G>A
c.917G>A (n.917G>A)
16g.67940049A>CCA396375525LCATc.1178T>G (p.Leu393Arg)
c.181T>G
c.916T>G (n.916T>G)
16g.67940049A>GCA396375526LCATc.1178T>C (p.Leu393Pro)
c.181T>C
c.916T>C (n.916T>C)
16g.67940049A>TCA396375527LCATc.1178T>A (p.Leu393Gln)
c.181T>A
c.916T>A (n.916T>A)
16g.67940050G>ACA8120872LCATc.1177C>T (p.Leu393=)
c.180C>T
c.915C>T (n.915C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940050G>CCA396375528LCATc.1177C>G (p.Leu393Val)
c.180C>G
c.915C>G (n.915C>G)
16g.67940050G=CA2229563180LCATc.1177C= (p.Leu393=)
c.180C=
c.915C= (n.915C=)
16g.67940050G>TCA396375529LCATc.1177C>A (p.Leu393Met)
c.180C>A
c.915C>A (n.915C>A)
16g.67940051G>ACA496092659LCATc.1176C>T (p.His392=)
c.179C>T
c.914C>T (n.914C>T)
dbSNP
16g.67940051G>CCA396375530LCATc.1176C>G (p.His392Gln)
c.179C>G
c.914C>G (n.914C>G)
16g.67940051G=CA2229563181LCATc.1176C= (p.His392=)
c.179C=
c.914C= (n.914C=)
16g.67940051G>TCA396375531LCATc.1176C>A (p.His392Gln)
c.179C>A
c.914C>A (n.914C>A)
16g.67940052T>ACA396375534LCATc.1175A>T (p.His392Leu)
c.178A>T
c.913A>T (n.913A>T)
16g.67940052T>CCA396375532LCATc.1175A>G (p.His392Arg)
c.178A>G
c.913A>G (n.913A>G)
dbSNP gnomAD v2 gnomAD v4
16g.67940052T>GCA396375533LCATc.1175A>C (p.His392Pro)
c.178A>C
c.913A>C (n.913A>C)
16g.67940052T=CA2229563182LCATc.1175A= (p.His392=)
c.178A=
c.913A= (n.913A=)
16g.67940053G>ACA396375535LCATc.1174C>T (p.His392Tyr)
c.177C>T
c.912C>T (n.912C>T)
dbSNP gnomAD v2 gnomAD v4
16g.67940053G>CCA396375536LCATc.1174C>G (p.His392Asp)
c.177C>G
c.912C>G (n.912C>G)
16g.67940053G=CA2229563183LCATc.1174C= (p.His392=)
c.177C=
c.912C= (n.912C=)
16g.67940053G>TCA396375537LCATc.1174C>A (p.His392Asn)
c.177C>A
c.912C>A (n.912C>A)
16g.67940054C>ACA496092682LCATc.1173G>T (p.Val391=)
c.176G>T
c.911G>T (n.911G>T)
16g.67940054C=CA2229563184LCATc.1173G= (p.Val391=)
c.176G=
c.911G= (n.911G=)
16g.67940054C>GCA496092680LCATc.1173G>C (p.Val391=)
c.176G>C
c.911G>C (n.911G>C)
16g.67940054C>TCA8120873LCATc.1173G>A (p.Val391=)
c.176G>A
c.911G>A (n.911G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940055A=CA2229563185LCATc.1172T= (p.Val391=)
c.175T=
c.910T= (n.910T=)
16g.67940055A>CCA396375538LCATc.1172T>G (p.Val391Gly)
c.175T>G
c.910T>G (n.910T>G)
dbSNP gnomAD v2 gnomAD v4
16g.67940055A>GCA8120874LCATc.1172T>C (p.Val391Ala)
c.175T>C
c.910T>C (n.910T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940055A>TCA396375539LCATc.1172T>A (p.Val391Glu)
c.175T>A
c.910T>A (n.910T>A)
16g.67940056C>ACA396375540LCATc.1171G>T (p.Val391Leu)
c.174G>T
c.909G>T (n.909G>T)
16g.67940056C>GCA396375541LCATc.1171G>C (p.Val391Leu)
c.174G>C
c.909G>C (n.909G>C)
16g.67940056C>TCA396375542LCATc.1171G>A (p.Val391Met)
c.174G>A
c.909G>A (n.909G>A)
16g.67940057A=CA2229563186LCATc.1170T= (p.Pro390=)
c.173T=
c.908T= (n.908T=)
16g.67940057A>CCA496092693LCATc.1170T>G (p.Pro390=)
c.173T>G
c.908T>G (n.908T>G)
16g.67940057A>GCA496092696LCATc.1170T>C (p.Pro390=)
c.173T>C
c.908T>C (n.908T>C)
dbSNP gnomAD v4
16g.67940057A>TCA496092697LCATc.1170T>A (p.Pro390=)
c.173T>A
c.908T>A (n.908T>A)
16g.67940058G>ACA396375544LCATc.1169C>T (p.Pro390Leu)
c.172C>T
c.907C>T (n.907C>T)
16g.67940058G>CCA396375545LCATc.1169C>G (p.Pro390Arg)
c.172C>G
c.907C>G (n.907C>G)
16g.67940058G>TCA396375543LCATc.1169C>A (p.Pro390His)
c.172C>A
c.907C>A (n.907C>A)
16g.67940059G>ACA8120875LCATc.1168C>T (p.Pro390Ser)
c.171C>T
c.906C>T (n.906C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940059G>CCA396375546LCATc.1168C>G (p.Pro390Ala)
c.171C>G
c.906C>G (n.906C>G)
16g.67940059G=CA2229563187LCATc.1168C= (p.Pro390=)
c.171C=
c.906C= (n.906C=)
16g.67940059G>TCA396375547LCATc.1168C>A (p.Pro390Thr)
c.171C>A
c.906C>A (n.906C>A)
16g.67940060C>ACA396375548LCATc.1167G>T (p.Gln389His)
c.170G>T
c.905G>T (n.905G>T)
16g.67940060C=CA2229563188LCATc.1167G= (p.Gln389=)
c.170G=
c.905G= (n.905G=)
16g.67940060C>GCA8120876LCATc.1167G>C (p.Gln389His)
c.170G>C
c.905G>C (n.905G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940060C>TCA496092709LCATc.1167G>A (p.Gln389=)
c.170G>A
c.905G>A (n.905G>A)
gnomAD v4
16g.67940061T>ACA396375551LCATc.1166A>T (p.Gln389Leu)
c.169A>T
c.904A>T (n.904A>T)
16g.67940061T>CCA396375549LCATc.1166A>G (p.Gln389Arg)
c.169A>G
c.904A>G (n.904A>G)
16g.67940061T>GCA396375550LCATc.1166A>C (p.Gln389Pro)
c.169A>C
c.904A>C (n.904A>C)
16g.67940062G>ACA396375552LCATc.1165C>T (p.Gln389Ter)
c.168C>T
c.903C>T (n.903C>T)
16g.67940062G>CCA396375553LCATc.1165C>G (p.Gln389Glu)
c.168C>G
c.903C>G (n.903C>G)
16g.67940062G>TCA396375554LCATc.1165C>A (p.Gln389Lys)
c.168C>A
c.903C>A (n.903C>A)
16g.67940063T>ACA496092734LCATc.1164A>T (p.Pro388=)
c.167A>T
c.902A>T (n.902A>T)
16g.67940063T>CCA8120878LCATc.1164A>G (p.Pro388=)
c.167A>G
c.902A>G (n.902A>G)
dbSNP ExAC gnomAD v4
16g.67940063T>GCA8120877LCATc.1164A>C (p.Pro388=)
c.167A>C
c.902A>C (n.902A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940063T=CA2229563189LCATc.1164A= (p.Pro388=)
c.167A=
c.902A= (n.902A=)
16g.67940064G>ACA396375555LCATc.1163C>T (p.Pro388Leu)
c.166C>T
c.901C>T (n.901C>T)
ClinVar dbSNP gnomAD v4
16g.67940064G>CCA396375557LCATc.1163C>G (p.Pro388Arg)
c.166C>G
c.901C>G (n.901C>G)
16g.67940064G=CA2229563190LCATc.1163C= (p.Pro388=)
c.166C=
c.901C= (n.901C=)
16g.67940064G>TCA396375556LCATc.1163C>A (p.Pro388Gln)
c.166C>A
c.901C>A (n.901C>A)
16g.67940065G>ACA396375558LCATc.1162C>T (p.Pro388Ser)
c.165C>T
c.900C>T (n.900C>T)
gnomAD v4
16g.67940065G>CCA396375559LCATc.1162C>G (p.Pro388Ala)
c.165C>G
c.900C>G (n.900C>G)
16g.67940065G>TCA396375560LCATc.1162C>A (p.Pro388Thr)
c.165C>A
c.900C>A (n.900C>A)
16g.67940066C>ACA396375561LCATc.1161G>T (p.Gln387His)
c.164G>T
c.899G>T (n.899G>T)
gnomAD v4
16g.67940066C>GCA396375562LCATc.1161G>C (p.Gln387His)
c.164G>C
c.899G>C (n.899G>C)
16g.67940066C>TCA496092757LCATc.1161G>A (p.Gln387=)
c.164G>A
c.899G>A (n.899G>A)
COSMIC
16g.67940067T>ACA396375563LCATc.1160A>T (p.Gln387Leu)
c.163A>T
c.898A>T (n.898A>T)
16g.67940067T>CCA396375564LCATc.1160A>G (p.Gln387Arg)
c.163A>G
c.898A>G (n.898A>G)
16g.67940067T>GCA396375565LCATc.1160A>C (p.Gln387Pro)
c.163A>C
c.898A>C (n.898A>C)
16g.67940067T=CA2229563191LCATc.1160A= (p.Gln387=)
c.163A=
c.898A= (n.898A=)
16g.67940068G>ACA396375566LCATc.1159C>T (p.Gln387Ter)
c.162C>T
c.897C>T (n.897C>T)
16g.67940068G>CCA396375567LCATc.1159C>G (p.Gln387Glu)
c.162C>G
c.897C>G (n.897C>G)
16g.67940068G>TCA396375568LCATc.1159C>A (p.Gln387Lys)
c.162C>A
c.897C>A (n.897C>A)
16g.67940069dupCA623122722LCATc.1159dup (p.Gln387ProfsTer?)
c.162dup
c.897dup (n.897dup)
dbSNP gnomAD v2
16g.67940069G>ACA496092782LCATc.1158C>T (p.Arg386=)
c.161C>T
c.896C>T (n.896C>T)
16g.67940069G>CCA496092784LCATc.1158C>G (p.Arg386=)
c.161C>G
c.896C>G (n.896C>G)
16g.67940069G>TCA496092786LCATc.1158C>A (p.Arg386=)
c.161C>A
c.896C>A (n.896C>A)
16g.67940070C>ACA396375570LCATc.1157G>T (p.Arg386Leu)
c.160G>T
c.895G>T (n.895G>T)
16g.67940070C=CA2229563192LCATc.1157G= (p.Arg386=)
c.160G=
c.895G= (n.895G=)
16g.67940070C>GCA8120879LCATc.1157G>C (p.Arg386Pro)
c.160G>C
c.895G>C (n.895G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940070C>TCA396375569LCATc.1157G>A (p.Arg386His)
c.160G>A
c.895G>A (n.895G>A)
dbSNP gnomAD v2 gnomAD v4
16g.67940071G>ACA396375573LCATc.1156C>T (p.Arg386Cys)
c.159C>T
c.894C>T (n.894C>T)
gnomAD v4
16g.67940071G>CCA396375571LCATc.1156C>G (p.Arg386Gly)
c.159C>G
c.894C>G (n.894C>G)
16g.67940071G>TCA396375572LCATc.1156C>A (p.Arg386Ser)
c.159C>A
c.894C>A (n.894C>A)
16g.67940072G>ACA496092804LCATc.1155C>T (p.Gly385=)
c.158C>T
c.893C>T (n.893C>T)
16g.67940072G>CCA8120880LCATc.1155C>G (p.Gly385=)
c.158C>G
c.893C>G (n.893C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940072G=CA2229563193LCATc.1155C= (p.Gly385=)
c.158C=
c.893C= (n.893C=)
16g.67940072G>TCA496092810LCATc.1155C>A (p.Gly385=)
c.158C>A
c.893C>A (n.893C>A)
16g.67940072_67940082delinsGCCCTGCCACACA2229563194LCATc.1145_1155delinsTGTGGCAGGGC (p.Leu382=)
c.156-8_158delinsTGTGGCAGGGC
c.883_893delinsTGTGGCAGGGC (n.883_893delinsTGTGGCAGGGC)
16g.67940073C>ACA396375574LCATc.1154G>T (p.Gly385Val)
c.157G>T
c.892G>T (n.892G>T)
gnomAD v4
16g.67940073C=CA2229563195LCATc.1154G= (p.Gly385=)
c.157G=
c.892G= (n.892G=)
16g.67940073C>GCA8120881LCATc.1154G>C (p.Gly385Ala)
c.157G>C
c.892G>C (n.892G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940073C>TCA396375575LCATc.1154G>A (p.Gly385Asp)
c.157G>A
c.892G>A (n.892G>A)
gnomAD v4
16g.67940073_67940082delCA919730844LCATc.1145_1154del (p.Leu382ProfsTer25)
c.156-8_157del
c.883_892del (n.883_892del)
dbSNP
16g.67940074C>ACA396375577LCATc.1153G>T (p.Gly385Cys)
c.156G>T
c.891G>T (n.891G>T)
16g.67940074C=CA2229563196LCATc.1153G= (p.Gly385=)
c.156G=
c.891G= (n.891G=)
16g.67940074C>GCA396375576LCATc.1153G>C (p.Gly385Arg)
c.156G>C
c.891G>C (n.891G>C)
dbSNP gnomAD v2
16g.67940074C>TCA283160483LCATc.1153G>A (p.Gly385Ser)
c.156G>A
c.891G>A (n.891G>A)
dbSNP
16g.67940075C>ACA396375578LCATc.1152G>T (p.Gln384His)
c.156-1G>T
c.890G>T (n.890G>T)
16g.67940075C>GCA396375579LCATc.1152G>C (p.Gln384His)
c.156-1G>C
c.890G>C (n.890G>C)
16g.67940075C>TCA496092828LCATc.1152G>A (p.Gln384=)
c.156-1G>A
c.890G>A (n.890G>A)
16g.67940076T>ACA396375580LCATc.1151A>T (p.Gln384Leu)
c.156-2A>T
c.889A>T (n.889A>T)
16g.67940076T>CCA8120882LCATc.1151A>G (p.Gln384Arg)
c.156-2A>G
c.889A>G (n.889A>G)
dbSNP ExAC gnomAD v4
16g.67940076T>GCA396375581LCATc.1151A>C (p.Gln384Pro)
c.156-2A>C
c.889A>C (n.889A>C)
16g.67940076T=CA2229563197LCATc.1151A= (p.Gln384=)
c.156-2A=
c.889A= (n.889A=)
16g.67940077G>ACA396375582LCATc.1150C>T (p.Gln384Ter)
c.156-3C>T
c.888C>T (n.888C>T)
16g.67940077G>CCA8120883LCATc.1150C>G (p.Gln384Glu)
c.156-3C>G
c.888C>G (n.888C>G)
dbSNP ExAC
16g.67940077G=CA2229563198LCATc.1150C= (p.Gln384=)
c.156-3C=
c.888C= (n.888C=)
16g.67940077G>TCA396375583LCATc.1150C>A (p.Gln384Lys)
c.156-3C>A
c.888C>A (n.888C>A)
16g.67940078C>ACA396375584LCATc.1149G>T (p.Trp383Cys)
c.156-4G>T
c.887G>T (n.887G>T)
16g.67940078C=CA2229563199LCATc.1149G= (p.Trp383=)
c.156-4G=
c.887G= (n.887G=)
16g.67940078C>GCA283160485LCATc.1149G>C (p.Trp383Cys)
c.156-4G>C
c.887G>C (n.887G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940078C>TCA396375585LCATc.1149G>A (p.Trp383Ter)
c.156-4G>A
c.887G>A (n.887G>A)
16g.67940079C>ACA396375586LCATc.1148G>T (p.Trp383Leu)
c.156-5G>T
c.886G>T (n.886G>T)
16g.67940079C>GCA396375587LCATc.1148G>C (p.Trp383Ser)
c.156-5G>C
c.886G>C (n.886G>C)
16g.67940079C>TCA396375588LCATc.1148G>A (p.Trp383Ter)
c.156-5G>A
c.886G>A (n.886G>A)
16g.67940080A>CCA396375589LCATc.1147T>G (p.Trp383Gly)
c.156-6T>G
c.885T>G (n.885T>G)
16g.67940080A>GCA396375590LCATc.1147T>C (p.Trp383Arg)
c.156-6T>C
c.885T>C (n.885T>C)
16g.67940080A>TCA396375591LCATc.1147T>A (p.Trp383Arg)
c.156-6T>A
c.885T>A (n.885T>A)
16g.67940081C>ACA496092854LCATc.1146G>T (p.Leu382=)
c.156-7G>T
c.884G>T (n.884G>T)
16g.67940081C>GCA496092855LCATc.1146G>C (p.Leu382=)
c.156-7G>C
c.884G>C (n.884G>C)
16g.67940081C>TCA496092853LCATc.1146G>A (p.Leu382=)
c.156-7G>A
c.884G>A (n.884G>A)
gnomAD v4
16g.67940082A>CCA396375592LCATc.1145T>G (p.Leu382Arg)
c.156-8T>G
c.883T>G (n.883T>G)
gnomAD v4
16g.67940082A>GCA396375593LCATc.1145T>C (p.Leu382Pro)
c.156-8T>C
c.883T>C (n.883T>C)
16g.67940082A>TCA396375594LCATc.1145T>A (p.Leu382Gln)
c.156-8T>A
c.883T>A (n.883T>A)
16g.67940083G>ACA496092860LCATc.1144C>T (p.Leu382=)
c.156-9C>T
c.882C>T (n.882C>T)
16g.67940083G>CCA396375595LCATc.1144C>G (p.Leu382Val)
c.156-9C>G
c.882C>G (n.882C>G)
16g.67940083G>TCA396375596LCATc.1144C>A (p.Leu382Met)
c.156-9C>A
c.882C>A (n.882C>A)
16g.67940084G>ACA496092866LCATc.1143C>T (p.Gly381=)
c.156-10C>T
c.881C>T (n.881C>T)
dbSNP
16g.67940084G>CCA496092865LCATc.1143C>G (p.Gly381=)
c.156-10C>G
c.881C>G (n.881C>G)
16g.67940084G>TCA496092863LCATc.1143C>A (p.Gly381=)
c.156-10C>A
c.881C>A (n.881C>A)
16g.67940085C>ACA396375597LCATc.1142G>T (p.Gly381Val)
c.156-11G>T
c.880G>T (n.880G>T)
16g.67940085C>GCA396375598LCATc.1142G>C (p.Gly381Ala)
c.156-11G>C
c.880G>C (n.880G>C)
16g.67940085C>TCA396375599LCATc.1142G>A (p.Gly381Asp)
c.156-11G>A
c.880G>A (n.880G>A)
gnomAD v4
16g.67940086C>ACA396375600LCATc.1141G>T (p.Gly381Cys)
c.156-12G>T
c.879G>T (n.879G>T)
16g.67940086C>GCA396375601LCATc.1141G>C (p.Gly381Arg)
c.156-12G>C
c.879G>C (n.879G>C)
16g.67940086C>TCA396375602LCATc.1141G>A (p.Gly381Ser)
c.156-12G>A
c.879G>A (n.879G>A)
16g.67940087A>CCA396375604LCATc.1140T>G (p.Cys380Trp)
c.156-13T>G
c.878T>G (n.878T>G)
16g.67940087A>GCA496092874LCATc.1140T>C (p.Cys380=)
c.156-13T>C
c.878T>C (n.878T>C)
16g.67940087A>TCA396375603LCATc.1140T>A (p.Cys380Ter)
c.156-13T>A
c.878T>A (n.878T>A)
16g.67940088C>ACA396375605LCATc.1139G>T (p.Cys380Phe)
c.156-14G>T
c.877G>T (n.877G>T)
16g.67940088C=CA2229563200LCATc.1139G= (p.Cys380=)
c.156-14G=
c.877G= (n.877G=)
16g.67940088C>GCA396375606LCATc.1139G>C (p.Cys380Ser)
c.156-14G>C
c.877G>C (n.877G>C)
16g.67940088C>TCA396375607LCATc.1139G>A (p.Cys380Tyr)
c.156-14G>A
c.877G>A (n.877G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940089A=CA2229563201LCATc.1138T= (p.Cys380=)
c.156-15T=
c.876T= (n.876T=)
16g.67940089A>CCA396375608LCATc.1138T>G (p.Cys380Gly)
c.156-15T>G
c.876T>G (n.876T>G)
16g.67940089A>GCA8120884LCATc.1138T>C (p.Cys380Arg)
c.156-15T>C
c.876T>C (n.876T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940089A>TCA396375609LCATc.1138T>A (p.Cys380Ser)
c.156-15T>A
c.876T>A (n.876T>A)
16g.67940090G>ACA283160487LCATc.1137C>T (p.Leu379=)
c.156-16C>T
c.875C>T (n.875C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940090G>CCA496092882LCATc.1137C>G (p.Leu379=)
c.156-16C>G
c.875C>G (n.875C>G)
16g.67940090G=CA2229563202LCATc.1137C= (p.Leu379=)
c.156-16C=
c.875C= (n.875C=)
16g.67940090G>TCA496092883LCATc.1137C>A (p.Leu379=)
c.156-16C>A
c.875C>A (n.875C>A)
16g.67940091A>CCA396375610LCATc.1136T>G (p.Leu379Arg)
c.156-17T>G
c.874T>G (n.874T>G)
16g.67940091A>GCA396375612LCATc.1136T>C (p.Leu379Pro)
c.156-17T>C
c.874T>C (n.874T>C)
16g.67940091A>TCA396375611LCATc.1136T>A (p.Leu379His)
c.156-17T>A
c.874T>A (n.874T>A)
16g.67940092G>ACA396375613LCATc.1135C>T (p.Leu379Phe)
c.156-18C>T
c.873C>T (n.873C>T)
dbSNP gnomAD v2
16g.67940092G>CCA396375614LCATc.1135C>G (p.Leu379Val)
c.156-18C>G
c.873C>G (n.873C>G)
16g.67940092G=CA2229563203LCATc.1135C= (p.Leu379=)
c.156-18C=
c.873C= (n.873C=)
16g.67940092G>TCA396375615LCATc.1135C>A (p.Leu379Ile)
c.156-18C>A
c.873C>A (n.873C>A)
16g.67940093C>ACA396375616LCATc.1134G>T (p.Glu378Asp)
c.156-19G>T
c.872G>T (n.872G>T)
dbSNP gnomAD v2 gnomAD v4
16g.67940093C=CA2229563204LCATc.1134G= (p.Glu378=)
c.156-19G=
c.872G= (n.872G=)
16g.67940093C>GCA396375617LCATc.1134G>C (p.Glu378Asp)
c.156-19G>C
c.872G>C (n.872G>C)
16g.67940093C>TCA496383843LCATc.1134G>A (p.Glu378=)
c.156-19G>A
c.872G>A (n.872G>A)
16g.67940094T>ACA396375618LCATc.1133A>T (p.Glu378Val)
c.156-20A>T
c.871A>T (n.871A>T)
16g.67940094T>CCA396375619LCATc.1133A>G (p.Glu378Gly)
c.156-20A>G
c.871A>G (n.871A>G)
16g.67940094T>GCA396375620LCATc.1133A>C (p.Glu378Ala)
c.156-20A>C
c.871A>C (n.871A>C)
16g.67940095C>ACA396375621LCATc.1132G>T (p.Glu378Ter)
c.156-21G>T
c.870G>T (n.870G>T)
16g.67940095C=CA2229563205LCATc.1132G= (p.Glu378=)
c.156-21G=
c.870G= (n.870G=)
16g.67940095C>GCA396375622LCATc.1132G>C (p.Glu378Gln)
c.156-21G>C
c.870G>C (n.870G>C)
16g.67940095C>TCA8120885LCATc.1132G>A (p.Glu378Lys)
c.156-21G>A
c.870G>A (n.870G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940096G>ACA8120886LCATc.1131C>T (p.Thr377=)
c.156-22C>T
c.869C>T (n.869C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940096G>CCA496383847LCATc.1131C>G (p.Thr377=)
c.156-22C>G
c.869C>G (n.869C>G)
gnomAD v4
16g.67940096G=CA2229563206LCATc.1131C= (p.Thr377=)
c.156-22C=
c.869C= (n.869C=)
16g.67940096G>TCA496383848LCATc.1131C>A (p.Thr377=)
c.156-22C>A
c.869C>A (n.869C>A)
16g.67940097G>ACA396375624LCATc.1130C>T (p.Thr377Ile)
c.156-23C>T
c.868C>T (n.868C>T)
16g.67940097G>CCA396375625LCATc.1130C>G (p.Thr377Ser)
c.156-23C>G
c.868C>G (n.868C>G)
16g.67940097G>TCA396375623LCATc.1130C>A (p.Thr377Asn)
c.156-23C>A
c.868C>A (n.868C>A)

Number of alleles fetched