Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.6224686A=CA1607987833F13A1c.973T= (p.Phe325=)
c.123T=
c.1135T= (p.Phe379=)
6g.6224686A>CCA362739851F13A1c.973T>G (p.Phe325Val)
c.123T>G
c.1135T>G (p.Phe379Val)
gnomAD v4
6g.6224686A>GCA362739849F13A1c.973T>C (p.Phe325Leu)
c.123T>C
c.1135T>C (p.Phe379Leu)
dbSNP gnomAD v2 gnomAD v4
6g.6224686A>TCA362739850F13A1c.973T>A (p.Phe325Ile)
c.123T>A
c.1135T>A (p.Phe379Ile)
6g.6224687T>ACA448645789F13A1c.972A>T (p.Thr324=)
c.122A>T
c.1134A>T (p.Thr378=)
6g.6224687T>CCA3624511F13A1c.972A>G (p.Thr324=)
c.122A>G
c.1134A>G (p.Thr378=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224687T>GCA448645790F13A1c.972A>C (p.Thr324=)
c.122A>C
c.1134A>C (p.Thr378=)
6g.6224687T=CA1607987834F13A1c.972A= (p.Thr324=)
c.122A=
c.1134A= (p.Thr378=)
6g.6224688G>ACA362739852F13A1c.971C>T (p.Thr324Ile)
c.121C>T
c.1133C>T (p.Thr378Ile)
6g.6224688G>CCA362739853F13A1c.971C>G (p.Thr324Arg)
c.121C>G
c.1133C>G (p.Thr378Arg)
6g.6224688G>TCA362739854F13A1c.971C>A (p.Thr324Lys)
c.121C>A
c.1133C>A (p.Thr378Lys)
6g.6224689_6224703delCA2513818928F13A1c.957_971del (p.Gly320_Thr324del)
c.107_121del
c.1119_1133del (p.Gly374_Thr378del)
gnomAD v4
6g.6224689T>ACA362739855F13A1c.970A>T (p.Thr324Ser)
c.120A>T
c.1132A>T (p.Thr378Ser)
6g.6224689T>CCA362739856F13A1c.970A>G (p.Thr324Ala)
c.120A>G
c.1132A>G (p.Thr378Ala)
6g.6224689T>GCA362739857F13A1c.970A>C (p.Thr324Pro)
c.120A>C
c.1132A>C (p.Thr378Pro)
6g.6224690G>ACA448645791F13A1c.969C>T (p.Asn323=)
c.119C>T
c.1131C>T (p.Asn377=)
dbSNP
6g.6224690G>CCA362739858F13A1c.969C>G (p.Asn323Lys)
c.119C>G
c.1131C>G (p.Asn377Lys)
6g.6224690G=CA1607987835F13A1c.969C= (p.Asn323=)
c.119C=
c.1131C= (p.Asn377=)
6g.6224690G>TCA362739859F13A1c.969C>A (p.Asn323Lys)
c.119C>A
c.1131C>A (p.Asn377Lys)
6g.6224691T>ACA362739860F13A1c.968A>T (p.Asn323Ile)
c.118A>T
c.1130A>T (p.Asn377Ile)
6g.6224691T>CCA362739861F13A1c.968A>G (p.Asn323Ser)
c.118A>G
c.1130A>G (p.Asn377Ser)
6g.6224691T>GCA362739862F13A1c.968A>C (p.Asn323Thr)
c.118A>C
c.1130A>C (p.Asn377Thr)
6g.6224692T>ACA362739864F13A1c.967A>T (p.Asn323Tyr)
c.117A>T
c.1129A>T (p.Asn377Tyr)
6g.6224692T>CCA362739865F13A1c.967A>G (p.Asn323Asp)
c.117A>G
c.1129A>G (p.Asn377Asp)
6g.6224692T>GCA362739863F13A1c.967A>C (p.Asn323His)
c.117A>C
c.1129A>C (p.Asn377His)
6g.6224693A>CCA362739867F13A1c.966T>G (p.Phe322Leu)
c.116T>G
c.1128T>G (p.Phe376Leu)
6g.6224693A>GCA448645792F13A1c.966T>C (p.Phe322=)
c.116T>C
c.1128T>C (p.Phe376=)
6g.6224693A>TCA362739866F13A1c.966T>A (p.Phe322Leu)
c.116T>A
c.1128T>A (p.Phe376Leu)
6g.6224694A>CCA362739870F13A1c.965T>G (p.Phe322Cys)
c.115T>G
c.1127T>G (p.Phe376Cys)
6g.6224694A>GCA362739868F13A1c.965T>C (p.Phe322Ser)
c.115T>C
c.1127T>C (p.Phe376Ser)
6g.6224694A>TCA362739869F13A1c.965T>A (p.Phe322Tyr)
c.115T>A
c.1127T>A (p.Phe376Tyr)
6g.6224695A>CCA362739871F13A1c.964T>G (p.Phe322Val)
c.114T>G
c.1126T>G (p.Phe376Val)
6g.6224695A>GCA362739872F13A1c.964T>C (p.Phe322Leu)
c.114T>C
c.1126T>C (p.Phe376Leu)
6g.6224695A>TCA362739873F13A1c.964T>A (p.Phe322Ile)
c.114T>A
c.1126T>A (p.Phe376Ile)
6g.6224696G>ACA448645793F13A1c.963C>T (p.Val321=)
c.113C>T
c.1125C>T (p.Val375=)
6g.6224696G>CCA448645794F13A1c.963C>G (p.Val321=)
c.113C>G
c.1125C>G (p.Val375=)
6g.6224696G>TCA448645795F13A1c.963C>A (p.Val321=)
c.113C>A
c.1125C>A (p.Val375=)
6g.6224697A=CA1607987836F13A1c.962T= (p.Val321=)
c.112T=
c.1124T= (p.Val375=)
6g.6224697A>CCA362739874F13A1c.962T>G (p.Val321Gly)
c.112T>G
c.1124T>G (p.Val375Gly)
6g.6224697A>GCA362739875F13A1c.962T>C (p.Val321Ala)
c.112T>C
c.1124T>C (p.Val375Ala)
dbSNP gnomAD v3 gnomAD v4
6g.6224697A>TCA362739876F13A1c.962T>A (p.Val321Asp)
c.112T>A
c.1124T>A (p.Val375Asp)
6g.6224698C>ACA362739877F13A1c.961G>T (p.Val321Phe)
c.111G>T
c.1123G>T (p.Val375Phe)
6g.6224698C>GCA362739878F13A1c.961G>C (p.Val321Leu)
c.111G>C
c.1123G>C (p.Val375Leu)
6g.6224698C>TCA362739879F13A1c.961G>A (p.Val321Ile)
c.111G>A
c.1123G>A (p.Val375Ile)
gnomAD v4
6g.6224699A>CCA448645796F13A1c.960T>G (p.Gly320=)
c.110T>G
c.1122T>G (p.Gly374=)
6g.6224699A>GCA448645797F13A1c.960T>C (p.Gly320=)
c.110T>C
c.1122T>C (p.Gly374=)
gnomAD v4
6g.6224699A>TCA448645798F13A1c.960T>A (p.Gly320=)
c.110T>A
c.1122T>A (p.Gly374=)
6g.6224700C>ACA362739882F13A1c.959G>T (p.Gly320Val)
c.109G>T
c.1121G>T (p.Gly374Val)
gnomAD v4 COSMIC
6g.6224700C>GCA362739880F13A1c.959G>C (p.Gly320Ala)
c.109G>C
c.1121G>C (p.Gly374Ala)
6g.6224700C>TCA362739881F13A1c.959G>A (p.Gly320Asp)
c.109G>A
c.1121G>A (p.Gly374Asp)
gnomAD v4
6g.6224701C>ACA362739883F13A1c.958G>T (p.Gly320Cys)
c.108G>T
c.1120G>T (p.Gly374Cys)
6g.6224701C>GCA362739884F13A1c.958G>C (p.Gly320Arg)
c.108G>C
c.1120G>C (p.Gly374Arg)
6g.6224701C>TCA362739885F13A1c.958G>A (p.Gly320Ser)
c.108G>A
c.1120G>A (p.Gly374Ser)
6g.6224702A=CA1607987837F13A1c.957T= (p.Ala319=)
c.107T=
c.1119T= (p.Ala373=)
6g.6224702A>CCA448645799F13A1c.957T>G (p.Ala319=)
c.107T>G
c.1119T>G (p.Ala373=)
6g.6224702A>GCA448645800F13A1c.957T>C (p.Ala319=)
c.107T>C
c.1119T>C (p.Ala373=)
dbSNP gnomAD v3 gnomAD v4
6g.6224702A>TCA448645801F13A1c.957T>A (p.Ala319=)
c.107T>A
c.1119T>A (p.Ala373=)
6g.6224703G>ACA362739886F13A1c.956C>T (p.Ala319Val)
c.106C>T
c.1118C>T (p.Ala373Val)
gnomAD v4
6g.6224703G>CCA362739887F13A1c.956C>G (p.Ala319Gly)
c.106C>G
c.1118C>G (p.Ala373Gly)
6g.6224703G>TCA362739888F13A1c.956C>A (p.Ala319Asp)
c.106C>A
c.1118C>A (p.Ala373Asp)
6g.6224704C>ACA362739889F13A1c.955G>T (p.Ala319Ser)
c.105G>T
c.1117G>T (p.Ala373Ser)
gnomAD v4 COSMIC
6g.6224704C>GCA362739890F13A1c.955G>C (p.Ala319Pro)
c.105G>C
c.1117G>C (p.Ala373Pro)
6g.6224704C>TCA362739891F13A1c.955G>A (p.Ala319Thr)
c.105G>A
c.1117G>A (p.Ala373Thr)
gnomAD v4
6g.6224705A>CCA362739892F13A1c.954T>G (p.Phe318Leu)
c.104T>G
c.1116T>G (p.Phe372Leu)
6g.6224705A>GCA448645802F13A1c.954T>C (p.Phe318=)
c.104T>C
c.1116T>C (p.Phe372=)
gnomAD v4
6g.6224705A>TCA362739893F13A1c.954T>A (p.Phe318Leu)
c.104T>A
c.1116T>A (p.Phe372Leu)
6g.6224706A>CCA362739895F13A1c.953T>G (p.Phe318Cys)
c.103T>G
c.1115T>G (p.Phe372Cys)
6g.6224706A>GCA362739896F13A1c.953T>C (p.Phe318Ser)
c.103T>C
c.1115T>C (p.Phe372Ser)
6g.6224706A>TCA362739894F13A1c.953T>A (p.Phe318Tyr)
c.103T>A
c.1115T>A (p.Phe372Tyr)
6g.6224707A>CCA362739897F13A1c.952T>G (p.Phe318Val)
c.102T>G
c.1114T>G (p.Phe372Val)
6g.6224707A>GCA362739898F13A1c.952T>C (p.Phe318Leu)
c.102T>C
c.1114T>C (p.Phe372Leu)
6g.6224707A>TCA362739899F13A1c.952T>A (p.Phe318Ile)
c.102T>A
c.1114T>A (p.Phe372Ile)
6g.6224708A>CCA448645803F13A1c.951T>G (p.Val317=)
c.101T>G
c.1113T>G (p.Val371=)
6g.6224708A>GCA448645804F13A1c.951T>C (p.Val317=)
c.101T>C
c.1113T>C (p.Val371=)
6g.6224708A>TCA448645805F13A1c.951T>A (p.Val317=)
c.101T>A
c.1113T>A (p.Val371=)
6g.6224709A>CCA362739900F13A1c.950T>G (p.Val317Gly)
c.100T>G
c.1112T>G (p.Val371Gly)
6g.6224709A>GCA362739901F13A1c.950T>C (p.Val317Ala)
c.100T>C
c.1112T>C (p.Val371Ala)
6g.6224709A>TCA362739902F13A1c.950T>A (p.Val317Asp)
c.100T>A
c.1112T>A (p.Val371Asp)
gnomAD v4
6g.6224710C>ACA126642F13A1c.949G>T (p.Val317Phe)
c.99G>T
c.1111G>T (p.Val371Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224710C=CA1607987838F13A1c.949G= (p.Val317=)
c.99G=
c.1111G= (p.Val371=)
6g.6224710C>GCA362739903F13A1c.949G>C (p.Val317Leu)
c.99G>C
c.1111G>C (p.Val371Leu)
6g.6224710C>TCA362739904F13A1c.949G>A (p.Val317Ile)
c.99G>A
c.1111G>A (p.Val371Ile)
6g.6224711C>ACA362739905F13A1c.948G>T (p.Trp316Cys)
c.98G>T
c.1110G>T (p.Trp370Cys)
6g.6224711C>GCA362739906F13A1c.948G>C (p.Trp316Cys)
c.98G>C
c.1110G>C (p.Trp370Cys)
6g.6224711C>TCA362739907F13A1c.948G>A (p.Trp316Ter)
c.98G>A
c.1110G>A (p.Trp370Ter)
gnomAD v4
6g.6224712C>ACA362739910F13A1c.947G>T (p.Trp316Leu)
c.97G>T
c.1109G>T (p.Trp370Leu)
6g.6224712C>GCA362739908F13A1c.947G>C (p.Trp316Ser)
c.97G>C
c.1109G>C (p.Trp370Ser)
6g.6224712C>TCA362739909F13A1c.947G>A (p.Trp316Ter)
c.97G>A
c.1109G>A (p.Trp370Ter)
6g.6224713A>CCA362739911F13A1c.946T>G (p.Trp316Gly)
c.96T>G
c.1108T>G (p.Trp370Gly)
6g.6224713A>GCA362739912F13A1c.946T>C (p.Trp316Arg)
c.96T>C
c.1108T>C (p.Trp370Arg)
6g.6224713A>TCA362739913F13A1c.946T>A (p.Trp316Arg)
c.96T>A
c.1108T>A (p.Trp370Arg)
6g.6224714G>ACA134391466F13A1c.945C>T (p.Cys315=)
c.95C>T
c.1107C>T (p.Cys369=)
dbSNP gnomAD v3 gnomAD v4
6g.6224714G>CCA362739914F13A1c.945C>G (p.Cys315Trp)
c.95C>G
c.1107C>G (p.Cys369Trp)
6g.6224714G=CA1607987839F13A1c.945C= (p.Cys315=)
c.95C=
c.1107C= (p.Cys369=)
6g.6224714G>TCA362739915F13A1c.945C>A (p.Cys315Ter)
c.95C>A
c.1107C>A (p.Cys369Ter)
6g.6224715C>ACA362739916F13A1c.944G>T (p.Cys315Phe)
c.94G>T
c.1106G>T (p.Cys369Phe)
6g.6224715C>GCA362739917F13A1c.944G>C (p.Cys315Ser)
c.94G>C
c.1106G>C (p.Cys369Ser)
6g.6224715C>TCA362739918F13A1c.944G>A (p.Cys315Tyr)
c.94G>A
c.1106G>A (p.Cys369Tyr)
6g.6224716A>CCA362739919F13A1c.943T>G (p.Cys315Gly)
c.93T>G
c.1105T>G (p.Cys369Gly)
6g.6224716A>GCA362739920F13A1c.943T>C (p.Cys315Arg)
c.93T>C
c.1105T>C (p.Cys369Arg)
6g.6224716A>TCA362739921F13A1c.943T>A (p.Cys315Ser)
c.93T>A
c.1105T>A (p.Cys369Ser)
6g.6224717T>ACA362739922F13A1c.942A>T (p.Gln314His)
c.92A>T
c.1104A>T (p.Gln368His)
6g.6224717T>CCA448645806F13A1c.942A>G (p.Gln314=)
c.92A>G
c.1104A>G (p.Gln368=)
gnomAD v4
6g.6224717T>GCA362739923F13A1c.942A>C (p.Gln314His)
c.92A>C
c.1104A>C (p.Gln368His)
6g.6224718T>ACA362739925F13A1c.941A>T (p.Gln314Leu)
c.91A>T
c.1103A>T (p.Gln368Leu)
6g.6224718T>CCA362739926F13A1c.941A>G (p.Gln314Arg)
c.91A>G
c.1103A>G (p.Gln368Arg)
6g.6224718T>GCA362739924F13A1c.941A>C (p.Gln314Pro)
c.91A>C
c.1103A>C (p.Gln368Pro)
6g.6224719G>ACA362739929F13A1c.940C>T (p.Gln314Ter)
c.90C>T
c.1102C>T (p.Gln368Ter)
6g.6224719G>CCA362739927F13A1c.940C>G (p.Gln314Glu)
c.90C>G
c.1102C>G (p.Gln368Glu)
6g.6224719G>TCA362739928F13A1c.940C>A (p.Gln314Lys)
c.90C>A
c.1102C>A (p.Gln368Lys)
6g.6224720_6224729delCA2578522228F13A1c.931_940del (p.Arg311AsnfsTer?)
c.81_90del
c.1093_1102del (p.Arg365AsnfsTer?)
6g.6224720G>ACA3624512F13A1c.939C>T (p.Gly313=)
c.89C>T
c.1101C>T (p.Gly367=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.6224720G>CCA448645808F13A1c.939C>G (p.Gly313=)
c.89C>G
c.1101C>G (p.Gly367=)
gnomAD v4
6g.6224720G=CA1607987840F13A1c.939C= (p.Gly313=)
c.89C=
c.1101C= (p.Gly367=)
6g.6224720G>TCA448645807F13A1c.939C>A (p.Gly313=)
c.89C>A
c.1101C>A (p.Gly367=)
6g.6224721C>ACA362739930F13A1c.938G>T (p.Gly313Val)
c.88G>T
c.1100G>T (p.Gly367Val)
6g.6224721C>GCA362739931F13A1c.938G>C (p.Gly313Ala)
c.88G>C
c.1100G>C (p.Gly367Ala)
6g.6224721C>TCA362739932F13A1c.938G>A (p.Gly313Asp)
c.88G>A
c.1100G>A (p.Gly367Asp)
COSMIC
6g.6224722C>ACA362739935F13A1c.937G>T (p.Gly313Cys)
c.87G>T
c.1099G>T (p.Gly367Cys)
6g.6224722C>GCA362739933F13A1c.937G>C (p.Gly313Arg)
c.87G>C
c.1099G>C (p.Gly367Arg)
ClinVar
6g.6224722C>TCA362739934F13A1c.937G>A (p.Gly313Ser)
c.87G>A
c.1099G>A (p.Gly367Ser)
6g.6224723A>CCA362739936F13A1c.936T>G (p.Tyr312Ter)
c.86T>G
c.1098T>G (p.Tyr366Ter)
gnomAD v4
6g.6224723A>GCA448645809F13A1c.936T>C (p.Tyr312=)
c.86T>C
c.1098T>C (p.Tyr366=)
6g.6224723A>TCA362739937F13A1c.936T>A (p.Tyr312Ter)
c.86T>A
c.1098T>A (p.Tyr366Ter)
6g.6224724T>ACA362739938F13A1c.935A>T (p.Tyr312Phe)
c.85A>T
c.1097A>T (p.Tyr366Phe)
6g.6224724T>CCA362739939F13A1c.935A>G (p.Tyr312Cys)
c.85A>G
c.1097A>G (p.Tyr366Cys)
gnomAD v4
6g.6224724T>GCA362739940F13A1c.935A>C (p.Tyr312Ser)
c.85A>C
c.1097A>C (p.Tyr366Ser)
6g.6224725A>CCA362739941F13A1c.934T>G (p.Tyr312Asp)
c.84T>G
c.1096T>G (p.Tyr366Asp)
6g.6224725A>GCA362739943F13A1c.934T>C (p.Tyr312His)
c.84T>C
c.1096T>C (p.Tyr366His)
6g.6224725A>TCA362739942F13A1c.934T>A (p.Tyr312Asn)
c.84T>A
c.1096T>A (p.Tyr366Asn)
6g.6224726C>ACA448645810F13A1c.933G>T (p.Arg311=)
c.83G>T
c.1095G>T (p.Arg365=)
gnomAD v4
6g.6224726C=CA1607987841F13A1c.933G= (p.Arg311=)
c.83G=
c.1095G= (p.Arg365=)
6g.6224726C>GCA448645811F13A1c.933G>C (p.Arg311=)
c.83G>C
c.1095G>C (p.Arg365=)
6g.6224726C>TCA448645812F13A1c.933G>A (p.Arg311=)
c.83G>A
c.1095G>A (p.Arg365=)
dbSNP gnomAD v4 COSMIC
6g.6224727C>ACA362739944F13A1c.932G>T (p.Arg311Leu)
c.82G>T
c.1094G>T (p.Arg365Leu)
gnomAD v4 COSMIC
6g.6224727C=CA1607987842F13A1c.932G= (p.Arg311=)
c.82G=
c.1094G= (p.Arg365=)
6g.6224727C>GCA362739945F13A1c.932G>C (p.Arg311Pro)
c.82G>C
c.1094G>C (p.Arg365Pro)
6g.6224727C>TCA134391467F13A1c.932G>A (p.Arg311Gln)
c.82G>A
c.1094G>A (p.Arg365Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224728G>ACA134391468F13A1c.931C>T (p.Arg311Trp)
c.81C>T
c.1093C>T (p.Arg365Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224728G>CCA362739946F13A1c.931C>G (p.Arg311Gly)
c.81C>G
c.1093C>G (p.Arg365Gly)
6g.6224728G=CA1607987843F13A1c.931C= (p.Arg311=)
c.81C=
c.1093C= (p.Arg365=)
6g.6224728G>TCA448645813F13A1c.931C>A (p.Arg311=)
c.81C>A
c.1093C>A (p.Arg365=)
6g.6224729G>ACA134391469F13A1c.930C>T (p.Val310=)
c.80C>T
c.1092C>T (p.Val364=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224729G>CCA448645814F13A1c.930C>G (p.Val310=)
c.80C>G
c.1092C>G (p.Val364=)
6g.6224729G=CA1607987844F13A1c.930C= (p.Val310=)
c.80C=
c.1092C= (p.Val364=)
6g.6224729G>TCA448645815F13A1c.930C>A (p.Val310=)
c.80C>A
c.1092C>A (p.Val364=)
gnomAD v4 COSMIC
6g.6224730A>CCA362739947F13A1c.929T>G (p.Val310Gly)
c.79T>G
c.1091T>G (p.Val364Gly)
6g.6224730A>GCA362739948F13A1c.929T>C (p.Val310Ala)
c.79T>C
c.1091T>C (p.Val364Ala)
6g.6224730A>TCA362739949F13A1c.929T>A (p.Val310Asp)
c.79T>A
c.1091T>A (p.Val364Asp)
6g.6224731C>ACA362739950F13A1c.928G>T (p.Val310Phe)
c.78G>T
c.1090G>T (p.Val364Phe)
6g.6224731C>GCA362739951F13A1c.928G>C (p.Val310Leu)
c.78G>C
c.1090G>C (p.Val364Leu)
6g.6224731C>TCA362739952F13A1c.928G>A (p.Val310Ile)
c.78G>A
c.1090G>A (p.Val364Ile)
6g.6224732T>ACA448645816F13A1c.927A>T (p.Pro309=)
c.77A>T
c.1089A>T (p.Pro363=)
6g.6224732T>CCA448645817F13A1c.927A>G (p.Pro309=)
c.77A>G
c.1089A>G (p.Pro363=)
6g.6224732T>GCA448645818F13A1c.927A>C (p.Pro309=)
c.77A>C
c.1089A>C (p.Pro363=)
6g.6224733G>ACA362739955F13A1c.926C>T (p.Pro309Leu)
c.76C>T
c.1088C>T (p.Pro363Leu)
6g.6224733G>CCA362739954F13A1c.926C>G (p.Pro309Arg)
c.76C>G
c.1088C>G (p.Pro363Arg)
6g.6224733G=CA1607987845F13A1c.926C= (p.Pro309=)
c.76C=
c.1088C= (p.Pro363=)
6g.6224733G>TCA362739953F13A1c.926C>A (p.Pro309Gln)
c.76C>A
c.1088C>A (p.Pro363Gln)
dbSNP
6g.6224734G>ACA362739956F13A1c.925C>T (p.Pro309Ser)
c.75C>T
c.1087C>T (p.Pro363Ser)
6g.6224734G>CCA362739957F13A1c.925C>G (p.Pro309Ala)
c.75C>G
c.1087C>G (p.Pro363Ala)
6g.6224734G>TCA362739958F13A1c.925C>A (p.Pro309Thr)
c.75C>A
c.1087C>A (p.Pro363Thr)
6g.6224735A>CCA362739959F13A1c.924T>G (p.Asn308Lys)
c.74T>G
c.1086T>G (p.Asn362Lys)
6g.6224735A>GCA448645819F13A1c.924T>C (p.Asn308=)
c.74T>C
c.1086T>C (p.Asn362=)
6g.6224735A>TCA362739960F13A1c.924T>A (p.Asn308Lys)
c.74T>A
c.1086T>A (p.Asn362Lys)
6g.6224736T>ACA362739961F13A1c.923A>T (p.Asn308Ile)
c.73A>T
c.1085A>T (p.Asn362Ile)
gnomAD v4
6g.6224736T>CCA3624513F13A1c.923A>G (p.Asn308Ser)
c.73A>G
c.1085A>G (p.Asn362Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224736T>GCA362739962F13A1c.923A>C (p.Asn308Thr)
c.73A>C
c.1085A>C (p.Asn362Thr)
6g.6224736T=CA1607987846F13A1c.923A= (p.Asn308=)
c.73A=
c.1085A= (p.Asn362=)
6g.6224737T>ACA362739963F13A1c.922A>T (p.Asn308Tyr)
c.72A>T
c.1084A>T (p.Asn362Tyr)
6g.6224737T>CCA362739964F13A1c.922A>G (p.Asn308Asp)
c.72A>G
c.1084A>G (p.Asn362Asp)
6g.6224737T>GCA362739965F13A1c.922A>C (p.Asn308His)
c.72A>C
c.1084A>C (p.Asn362His)
6g.6224738C>ACA134391470F13A1c.921G>T (p.Glu307Asp)
c.71G>T
c.1083G>T (p.Glu361Asp)
dbSNP gnomAD v4
6g.6224738C=CA1607987847F13A1c.921G= (p.Glu307=)
c.71G=
c.1083G= (p.Glu361=)
6g.6224738C>GCA362739966F13A1c.921G>C (p.Glu307Asp)
c.71G>C
c.1083G>C (p.Glu361Asp)
6g.6224738C>TCA448645820F13A1c.921G>A (p.Glu307=)
c.71G>A
c.1083G>A (p.Glu361=)
6g.6224739T>ACA362739968F13A1c.920A>T (p.Glu307Val)
c.70A>T
c.1082A>T (p.Glu361Val)
6g.6224739T>CCA362739969F13A1c.920A>G (p.Glu307Gly)
c.70A>G
c.1082A>G (p.Glu361Gly)
6g.6224739T>GCA362739967F13A1c.920A>C (p.Glu307Ala)
c.70A>C
c.1082A>C (p.Glu361Ala)
gnomAD v4
6g.6224740C>ACA362739970F13A1c.919G>T (p.Glu307Ter)
c.69G>T
c.1081G>T (p.Glu361Ter)
6g.6224740C=CA1607987848F13A1c.919G= (p.Glu307=)
c.69G=
c.1081G= (p.Glu361=)
6g.6224740C>GCA362739971F13A1c.919G>C (p.Glu307Gln)
c.69G>C
c.1081G>C (p.Glu361Gln)
6g.6224740C>TCA362739972F13A1c.919G>A (p.Glu307Lys)
c.69G>A
c.1081G>A (p.Glu361Lys)
dbSNP gnomAD v4
6g.6224741A>CCA448645821F13A1c.918T>G (p.Ser306=)
c.68T>G
c.1080T>G (p.Ser360=)
6g.6224741A>GCA448645822F13A1c.918T>C (p.Ser306=)
c.68T>C
c.1080T>C (p.Ser360=)
6g.6224741A>TCA448645823F13A1c.918T>A (p.Ser306=)
c.68T>A
c.1080T>A (p.Ser360=)
6g.6224743_6224744delCA2578522229F13A1c.917_918del (p.Ser306Ter)
c.67_68del
c.1079_1080del (p.Ser360Ter)
6g.6224742G>ACA362739973F13A1c.917C>T (p.Ser306Phe)
c.67C>T
c.1079C>T (p.Ser360Phe)
6g.6224742G>CCA362739974F13A1c.917C>G (p.Ser306Cys)
c.67C>G
c.1079C>G (p.Ser360Cys)
6g.6224742G>TCA362739975F13A1c.917C>A (p.Ser306Tyr)
c.67C>A
c.1079C>A (p.Ser360Tyr)
6g.6224743A>CCA362739976F13A1c.916T>G (p.Ser306Ala)
c.66T>G
c.1078T>G (p.Ser360Ala)
6g.6224743A>GCA362739978F13A1c.916T>C (p.Ser306Pro)
c.66T>C
c.1078T>C (p.Ser360Pro)
6g.6224743A>TCA362739977F13A1c.916T>A (p.Ser306Thr)
c.66T>A
c.1078T>A (p.Ser360Thr)
6g.6224744G>ACA448645824F13A1c.915C>T (p.Ser305=)
c.65C>T
c.1077C>T (p.Ser359=)
6g.6224744G>CCA362739979F13A1c.915C>G (p.Ser305Arg)
c.65C>G
c.1077C>G (p.Ser359Arg)
6g.6224744G>TCA362739980F13A1c.915C>A (p.Ser305Arg)
c.65C>A
c.1077C>A (p.Ser359Arg)
6g.6224744_6224746delinsGCTCA1607987849F13A1c.913_915delinsAGC (p.Ser305=)
c.63_65delinsAGC
c.1075_1077delinsAGC (p.Ser359=)
6g.6224745C>ACA362739981F13A1c.914G>T (p.Ser305Ile)
c.64G>T
c.1076G>T (p.Ser359Ile)
6g.6224745C=CA1607987851F13A1c.914G= (p.Ser305=)
c.64G=
c.1076G= (p.Ser359=)
6g.6224745C>GCA362739982F13A1c.914G>C (p.Ser305Thr)
c.64G>C
c.1076G>C (p.Ser359Thr)
6g.6224745C>TCA362739983F13A1c.914G>A (p.Ser305Asn)
c.64G>A
c.1076G>A (p.Ser359Asn)
dbSNP gnomAD v2
6g.6224746_6224747delCA1607987850F13A1c.913_914del (p.Ser305LeufsTer2)
c.63_64del
c.1075_1076del (p.Ser359LeufsTer2)
dbSNP
6g.6224746T>ACA362739985F13A1c.913A>T (p.Ser305Cys)
c.63A>T
c.1075A>T (p.Ser359Cys)
6g.6224746T>CCA362739986F13A1c.913A>G (p.Ser305Gly)
c.63A>G
c.1075A>G (p.Ser359Gly)
6g.6224746T>GCA362739984F13A1c.913A>C (p.Ser305Arg)
c.63A>C
c.1075A>C (p.Ser359Arg)
6g.6224747C>ACA448645825F13A1c.912G>T (p.Arg304=)
c.62G>T
c.1074G>T (p.Arg358=)
6g.6224747C>GCA448645827F13A1c.912G>C (p.Arg304=)
c.62G>C
c.1074G>C (p.Arg358=)
6g.6224747C>TCA448645826F13A1c.912G>A (p.Arg304=)
c.62G>A
c.1074G>A (p.Arg358=)
6g.6224748C>ACA362739987F13A1c.911G>T (p.Arg304Leu)
c.61G>T
c.1073G>T (p.Arg358Leu)
6g.6224748C=CA1607987852F13A1c.911G= (p.Arg304=)
c.61G=
c.1073G= (p.Arg358=)
6g.6224748C>GCA362739988F13A1c.911G>C (p.Arg304Pro)
c.61G>C
c.1073G>C (p.Arg358Pro)
6g.6224748C>TCA3624514F13A1c.911G>A (p.Arg304Gln)
c.61G>A
c.1073G>A (p.Arg358Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224749G>ACA3624515F13A1c.910C>T (p.Arg304Trp)
c.60C>T
c.1072C>T (p.Arg358Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224749G>CCA362739989F13A1c.910C>G (p.Arg304Gly)
c.60C>G
c.1072C>G (p.Arg358Gly)
6g.6224749G=CA1607987853F13A1c.910C= (p.Arg304=)
c.60C=
c.1072C= (p.Arg358=)
6g.6224749G>TCA448645828F13A1c.910C>A (p.Arg304=)
c.60C>A
c.1072C>A (p.Arg358=)
6g.6224750G>ACA448645829F13A1c.909C>T (p.Tyr303=)
c.59C>T
c.1071C>T (p.Tyr357=)
6g.6224750G>CCA362739990F13A1c.909C>G (p.Tyr303Ter)
c.59C>G
c.1071C>G (p.Tyr357Ter)
6g.6224750G>TCA362739991F13A1c.909C>A (p.Tyr303Ter)
c.59C>A
c.1071C>A (p.Tyr357Ter)
6g.6224751T>ACA362739992F13A1c.908A>T (p.Tyr303Phe)
c.58A>T
c.1070A>T (p.Tyr357Phe)
6g.6224751T>CCA362739993F13A1c.908A>G (p.Tyr303Cys)
c.58A>G
c.1070A>G (p.Tyr357Cys)
6g.6224751T>GCA362739994F13A1c.908A>C (p.Tyr303Ser)
c.58A>C
c.1070A>C (p.Tyr357Ser)
6g.6224752A=CA1607987854F13A1c.907T= (p.Tyr303=)
c.57T=
c.1069T= (p.Tyr357=)
6g.6224752A>CCA362739995F13A1c.907T>G (p.Tyr303Asp)
c.57T>G
c.1069T>G (p.Tyr357Asp)
6g.6224752A>GCA134391471F13A1c.907T>C (p.Tyr303His)
c.57T>C
c.1069T>C (p.Tyr357His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224752A>TCA362739996F13A1c.907T>A (p.Tyr303Asn)
c.57T>A
c.1069T>A (p.Tyr357Asn)
gnomAD v4
6g.6224753T>ACA362739998F13A1c.906A>T (p.Glu302Asp)
c.56A>T
c.1068A>T (p.Glu356Asp)
6g.6224753T>CCA448645830F13A1c.906A>G (p.Glu302=)
c.56A>G
c.1068A>G (p.Glu356=)
6g.6224753T>GCA362739997F13A1c.906A>C (p.Glu302Asp)
c.56A>C
c.1068A>C (p.Glu356Asp)
6g.6224754T>ACA362739999F13A1c.905A>T (p.Glu302Val)
c.55A>T
c.1067A>T (p.Glu356Val)
6g.6224754T>CCA362740000F13A1c.905A>G (p.Glu302Gly)
c.55A>G
c.1067A>G (p.Glu356Gly)
6g.6224754T>GCA362740001F13A1c.905A>C (p.Glu302Ala)
c.55A>C
c.1067A>C (p.Glu356Ala)
6g.6224755C>ACA362740002F13A1c.904G>T (p.Glu302Ter)
c.54G>T
c.1066G>T (p.Glu356Ter)
6g.6224755C>GCA362740003F13A1c.904G>C (p.Glu302Gln)
c.54G>C
c.1066G>C (p.Glu356Gln)
6g.6224755C>TCA362740004F13A1c.904G>A (p.Glu302Lys)
c.54G>A
c.1066G>A (p.Glu356Lys)
6g.6224756C>ACA362740006F13A1c.903G>T (p.Leu301Phe)
c.53G>T
c.1065G>T (p.Leu355Phe)
dbSNP
6g.6224756C=CA1607987855F13A1c.903G= (p.Leu301=)
c.53G=
c.1065G= (p.Leu355=)
6g.6224756C>GCA362740005F13A1c.903G>C (p.Leu301Phe)
c.53G>C
c.1065G>C (p.Leu355Phe)
6g.6224756C>TCA448645831F13A1c.903G>A (p.Leu301=)
c.53G>A
c.1065G>A (p.Leu355=)
COSMIC
6g.6224757A>CCA362740007F13A1c.902T>G (p.Leu301Trp)
c.52T>G
c.1064T>G (p.Leu355Trp)
6g.6224757A>GCA362740008F13A1c.902T>C (p.Leu301Ser)
c.52T>C
c.1064T>C (p.Leu355Ser)
6g.6224757A>TCA362740009F13A1c.902T>A (p.Leu301Ter)
c.52T>A
c.1064T>A (p.Leu355Ter)
6g.6224758A>CCA362740010F13A1c.901T>G (p.Leu301Val)
c.51T>G
c.1063T>G (p.Leu355Val)
6g.6224758A>GCA448645832F13A1c.901T>C (p.Leu301=)
c.51T>C
c.1063T>C (p.Leu355=)
6g.6224758A>TCA362740011F13A1c.901T>A (p.Leu301Met)
c.51T>A
c.1063T>A (p.Leu355Met)
gnomAD v4
6g.6224759T>ACA448645833F13A1c.900A>T (p.Leu300=)
c.50A>T
c.1062A>T (p.Leu354=)
dbSNP
6g.6224759T>CCA3624516F13A1c.900A>G (p.Leu300=)
c.50A>G
c.1062A>G (p.Leu354=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.6224759T>GCA448645834F13A1c.900A>C (p.Leu300=)
c.50A>C
c.1062A>C (p.Leu354=)
6g.6224759T=CA1607987856F13A1c.900A= (p.Leu300=)
c.50A=
c.1062A= (p.Leu354=)
6g.6224760A>CCA362740014F13A1c.899T>G (p.Leu300Arg)
c.49T>G
c.1061T>G (p.Leu354Arg)
6g.6224760A>GCA362740012F13A1c.899T>C (p.Leu300Pro)
c.49T>C
c.1061T>C (p.Leu354Pro)
6g.6224760A>TCA362740013F13A1c.899T>A (p.Leu300Gln)
c.49T>A
c.1061T>A (p.Leu354Gln)
6g.6224761G>ACA448645835F13A1c.898C>T (p.Leu300=)
c.48C>T
c.1060C>T (p.Leu354=)
COSMIC
6g.6224761G>CCA362740015F13A1c.898C>G (p.Leu300Val)
c.48C>G
c.1060C>G (p.Leu354Val)
6g.6224761G>TCA362740016F13A1c.898C>A (p.Leu300Ile)
c.48C>A
c.1060C>A (p.Leu354Ile)
6g.6224762A>CCA362740017F13A1c.897T>G (p.Ile299Met)
c.47T>G
c.1059T>G (p.Ile353Met)
6g.6224762A>GCA448645836F13A1c.897T>C (p.Ile299=)
c.47T>C
c.1059T>C (p.Ile353=)
6g.6224762A>TCA448645837F13A1c.897T>A (p.Ile299=)
c.47T>A
c.1059T>A (p.Ile353=)
6g.6224763A>CCA362740018F13A1c.896T>G (p.Ile299Ser)
c.46T>G
c.1058T>G (p.Ile353Ser)
6g.6224763A>GCA362740019F13A1c.896T>C (p.Ile299Thr)
c.46T>C
c.1058T>C (p.Ile353Thr)
6g.6224763A>TCA362740020F13A1c.896T>A (p.Ile299Asn)
c.46T>A
c.1058T>A (p.Ile353Asn)
6g.6224764T>ACA362740023F13A1c.895A>T (p.Ile299Phe)
c.45A>T
c.1057A>T (p.Ile353Phe)
6g.6224764T>CCA362740021F13A1c.895A>G (p.Ile299Val)
c.45A>G
c.1057A>G (p.Ile353Val)
6g.6224764T>GCA362740022F13A1c.895A>C (p.Ile299Leu)
c.45A>C
c.1057A>C (p.Ile353Leu)
6g.6224765G>ACA448645838F13A1c.894C>T (p.Asp298=)
c.44C>T
c.1056C>T (p.Asp352=)
6g.6224765G>CCA362740024F13A1c.894C>G (p.Asp298Glu)
c.44C>G
c.1056C>G (p.Asp352Glu)
6g.6224765G>TCA362740025F13A1c.894C>A (p.Asp298Glu)
c.44C>A
c.1056C>A (p.Asp352Glu)
6g.6224765_6224767delinsGTCCA1607987857F13A1c.892_894delinsGAC (p.Asp298=)
c.42_44delinsGAC
c.1054_1056delinsGAC (p.Asp352=)
6g.6224766T>ACA362740026F13A1c.893A>T (p.Asp298Val)
c.43A>T
c.1055A>T (p.Asp352Val)
6g.6224766T>CCA362740027F13A1c.893A>G (p.Asp298Gly)
c.43A>G
c.1055A>G (p.Asp352Gly)
6g.6224766T>GCA362740028F13A1c.893A>C (p.Asp298Ala)
c.43A>C
c.1055A>C (p.Asp352Ala)
6g.6224766_6224767delCA565299735F13A1c.892_893del (p.Asp298HisfsTer9)
c.42_43del
c.1054_1055del (p.Asp352HisfsTer9)
dbSNP gnomAD v2
6g.6224767C>ACA362740030F13A1c.892G>T (p.Asp298Tyr)
c.42G>T
c.1054G>T (p.Asp352Tyr)
6g.6224767C=CA1607987858F13A1c.892G= (p.Asp298=)
c.42G=
c.1054G= (p.Asp352=)
6g.6224767C>GCA362740029F13A1c.892G>C (p.Asp298His)
c.42G>C
c.1054G>C (p.Asp352His)
6g.6224767C>TCA3624517F13A1c.892G>A (p.Asp298Asn)
c.42G>A
c.1054G>A (p.Asp352Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224768A=CA1607987859F13A1c.891T= (p.Val297=)
c.41T=
c.1053T= (p.Val351=)
6g.6224768A>CCA448645839F13A1c.891T>G (p.Val297=)
c.41T>G
c.1053T>G (p.Val351=)
6g.6224768A>GCA448645840F13A1c.891T>C (p.Val297=)
c.41T>C
c.1053T>C (p.Val351=)
dbSNP gnomAD v2
6g.6224768A>TCA448645841F13A1c.891T>A (p.Val297=)
c.41T>A
c.1053T>A (p.Val351=)
6g.6224769A=CA1607987860F13A1c.890T= (p.Val297=)
c.40T=
c.1052T= (p.Val351=)
6g.6224769A>CCA362740031F13A1c.890T>G (p.Val297Gly)
c.40T>G
c.1052T>G (p.Val351Gly)
dbSNP
6g.6224769A>GCA362740032F13A1c.890T>C (p.Val297Ala)
c.40T>C
c.1052T>C (p.Val351Ala)
gnomAD v4
6g.6224769A>TCA362740033F13A1c.890T>A (p.Val297Asp)
c.40T>A
c.1052T>A (p.Val351Asp)
6g.6224770C>ACA362740034F13A1c.889G>T (p.Val297Phe)
c.39G>T
c.1051G>T (p.Val351Phe)
6g.6224770C=CA1607987861F13A1c.889G= (p.Val297=)
c.39G=
c.1051G= (p.Val351=)
6g.6224770C>GCA362740035F13A1c.889G>C (p.Val297Leu)
c.39G>C
c.1051G>C (p.Val351Leu)
6g.6224770C>TCA3624518F13A1c.889G>A (p.Val297Ile)
c.39G>A
c.1051G>A (p.Val351Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224770_6224771insTGCA565299749F13A1c.888_889insCA (p.Val297GlnfsTer?)
c.38_39insCA
c.1050_1051insCA (p.Val351GlnfsTer?)
dbSNP gnomAD v2
6g.6224771G>ACA3624519F13A1c.888C>T (p.Ser296=)
c.38C>T
c.1050C>T (p.Ser350=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224771G>CCA362740036F13A1c.888C>G (p.Ser296Arg)
c.38C>G
c.1050C>G (p.Ser350Arg)
ClinVar dbSNP
6g.6224771G=CA1607987862F13A1c.888C= (p.Ser296=)
c.38C=
c.1050C= (p.Ser350=)
6g.6224771G>TCA362740037F13A1c.888C>A (p.Ser296Arg)
c.38C>A
c.1050C>A (p.Ser350Arg)
gnomAD v4
6g.6224772C>ACA362740038F13A1c.887G>T (p.Ser296Ile)
c.37G>T
c.1049G>T (p.Ser350Ile)
6g.6224772C=CA1607987863F13A1c.887G= (p.Ser296=)
c.37G=
c.1049G= (p.Ser350=)
6g.6224772C>GCA362740039F13A1c.887G>C (p.Ser296Thr)
c.37G>C
c.1049G>C (p.Ser350Thr)
6g.6224772C>TCA3624520F13A1c.887G>A (p.Ser296Asn)
c.37G>A
c.1049G>A (p.Ser350Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224773T>ACA362740042F13A1c.886A>T (p.Ser296Cys)
c.36A>T
c.1048A>T (p.Ser350Cys)
6g.6224773T>CCA362740040F13A1c.886A>G (p.Ser296Gly)
c.36A>G
c.1048A>G (p.Ser350Gly)
6g.6224773T>GCA362740041F13A1c.886A>C (p.Ser296Arg)
c.36A>C
c.1048A>C (p.Ser350Arg)
6g.6224774T>ACA448645842F13A1c.885A>T (p.Gly295=)
c.35A>T
c.1047A>T (p.Gly349=)
6g.6224774T>CCA448645843F13A1c.885A>G (p.Gly295=)
c.35A>G
c.1047A>G (p.Gly349=)
6g.6224774T>GCA448645844F13A1c.885A>C (p.Gly295=)
c.35A>C
c.1047A>C (p.Gly349=)
6g.6224775C>ACA362740043F13A1c.884G>T (p.Gly295Val)
c.34G>T
c.1046G>T (p.Gly349Val)
6g.6224775C>GCA362740045F13A1c.884G>C (p.Gly295Ala)
c.34G>C
c.1046G>C (p.Gly349Ala)
6g.6224775C>TCA362740044F13A1c.884G>A (p.Gly295Glu)
c.34G>A
c.1046G>A (p.Gly349Glu)
6g.6224776C>ACA362740046F13A1c.883G>T (p.Gly295Ter)
c.33G>T
c.1045G>T (p.Gly349Ter)
6g.6224776C>GCA362740047F13A1c.883G>C (p.Gly295Arg)
c.33G>C
c.1045G>C (p.Gly349Arg)
6g.6224776C>TCA362740048F13A1c.883G>A (p.Gly295Arg)
c.33G>A
c.1045G>A (p.Gly349Arg)
6g.6224777A=CA1607987864F13A1c.882T= (p.Thr294=)
c.32T=
c.1044T= (p.Thr348=)
6g.6224777A>CCA448645846F13A1c.882T>G (p.Thr294=)
c.32T>G
c.1044T>G (p.Thr348=)
COSMIC
6g.6224777A>GCA3624521F13A1c.882T>C (p.Thr294=)
c.32T>C
c.1044T>C (p.Thr348=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224777A>TCA448645845F13A1c.882T>A (p.Thr294=)
c.32T>A
c.1044T>A (p.Thr348=)
6g.6224778G>ACA362740049F13A1c.881C>T (p.Thr294Ile)
c.31C>T
c.1043C>T (p.Thr348Ile)
6g.6224778G>CCA362740050F13A1c.881C>G (p.Thr294Ser)
c.31C>G
c.1043C>G (p.Thr348Ser)
6g.6224778G>TCA362740051F13A1c.881C>A (p.Thr294Asn)
c.31C>A
c.1043C>A (p.Thr348Asn)
COSMIC
6g.6224779T>ACA362740052F13A1c.880A>T (p.Thr294Ser)
c.30A>T
c.1042A>T (p.Thr348Ser)
6g.6224779T>CCA362740053F13A1c.880A>G (p.Thr294Ala)
c.30A>G
c.1042A>G (p.Thr348Ala)
6g.6224779T>GCA362740054F13A1c.880A>C (p.Thr294Pro)
c.30A>C
c.1042A>C (p.Thr348Pro)
6g.6224780C>ACA362740055F13A1c.879G>T (p.Trp293Cys)
c.29G>T
c.1041G>T (p.Trp347Cys)
6g.6224780C>GCA362740056F13A1c.879G>C (p.Trp293Cys)
c.29G>C
c.1041G>C (p.Trp347Cys)
6g.6224780C>TCA362740057F13A1c.879G>A (p.Trp293Ter)
c.29G>A
c.1041G>A (p.Trp347Ter)
gnomAD v4
6g.6224781C>ACA362740058F13A1c.878G>T (p.Trp293Leu)
c.28G>T
c.1040G>T (p.Trp347Leu)
6g.6224781C>GCA362740060F13A1c.878G>C (p.Trp293Ser)
c.28G>C
c.1040G>C (p.Trp347Ser)
6g.6224781C>TCA362740059F13A1c.878G>A (p.Trp293Ter)
c.28G>A
c.1040G>A (p.Trp347Ter)
gnomAD v4
6g.6224782A>CCA362740061F13A1c.877T>G (p.Trp293Gly)
c.27T>G
c.1039T>G (p.Trp347Gly)
6g.6224782A>GCA362740062F13A1c.877T>C (p.Trp293Arg)
c.27T>C
c.1039T>C (p.Trp347Arg)
6g.6224782A>TCA362740063F13A1c.877T>A (p.Trp293Arg)
c.27T>A
c.1039T>A (p.Trp347Arg)
6g.6224783G>ACA448645847F13A1c.876C>T (p.Ala292=)
c.26C>T
c.1038C>T (p.Ala346=)
COSMIC
6g.6224783G>CCA448645849F13A1c.876C>G (p.Ala292=)
c.26C>G
c.1038C>G (p.Ala346=)
6g.6224783G>TCA448645848F13A1c.876C>A (p.Ala292=)
c.26C>A
c.1038C>A (p.Ala346=)
6g.6224784G>ACA362740064F13A1c.875C>T (p.Ala292Val)
c.25C>T
c.1037C>T (p.Ala346Val)
gnomAD v4
6g.6224784G>CCA362740065F13A1c.875C>G (p.Ala292Gly)
c.25C>G
c.1037C>G (p.Ala346Gly)
6g.6224784G>TCA362740066F13A1c.875C>A (p.Ala292Asp)
c.25C>A
c.1037C>A (p.Ala346Asp)
6g.6224785C>ACA362740067F13A1c.874G>T (p.Ala292Ser)
c.24G>T
c.1036G>T (p.Ala346Ser)
6g.6224785C>GCA362740068F13A1c.874G>C (p.Ala292Pro)
c.24G>C
c.1036G>C (p.Ala346Pro)
6g.6224785C>TCA362740069F13A1c.874G>A (p.Ala292Thr)
c.24G>A
c.1036G>A (p.Ala346Thr)
gnomAD v4
6g.6224786dupCA2695205939F13A1c.874dup (p.Ala292GlyfsTer7)
c.24dup
c.1036dup (p.Ala346GlyfsTer7)
6g.6224786C>ACA448645850F13A1c.873G>T (p.Ser291=)
c.23G>T
c.1035G>T (p.Ser345=)
6g.6224786C=CA1607987865F13A1c.873G= (p.Ser291=)
c.23G=
c.1035G= (p.Ser345=)
6g.6224786C>GCA448645851F13A1c.873G>C (p.Ser291=)
c.23G>C
c.1035G>C (p.Ser345=)
gnomAD v4
6g.6224786C>TCA3624522F13A1c.873G>A (p.Ser291=)
c.23G>A
c.1035G>A (p.Ser345=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched