Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.24706184delCA2695207532GSDMEc.1183+1del
c.691+1del
c.43+1del
7g.24706184C>ACA367046834GSDMEc.1183G>T (p.Glu395Ter)
c.691G>T (p.Glu231Ter)
c.43G>T (p.Glu15Ter)
7g.24706184C>GCA367046835GSDMEc.1183G>C (p.Glu395Gln)
c.691G>C (p.Glu231Gln)
c.43G>C (p.Glu15Gln)
7g.24706184C>TCA367046836GSDMEc.1183G>A (p.Glu395Lys)
c.691G>A (p.Glu231Lys)
c.43G>A (p.Glu15Lys)
7g.24706185T>ACA454019373GSDMEc.1182A>T (p.Ala394=)
c.690A>T (p.Ala230=)
c.42A>T (p.Ala14=)
7g.24706185T>CCA454019374GSDMEc.1182A>G (p.Ala394=)
c.690A>G (p.Ala230=)
c.42A>G (p.Ala14=)
7g.24706185T>GCA454019375GSDMEc.1182A>C (p.Ala394=)
c.690A>C (p.Ala230=)
c.42A>C (p.Ala14=)
7g.24706186G>ACA367046837GSDMEc.1181C>T (p.Ala394Val)
c.689C>T (p.Ala230Val)
c.41C>T (p.Ala14Val)
7g.24706186G>CCA367046839GSDMEc.1181C>G (p.Ala394Gly)
c.689C>G (p.Ala230Gly)
c.41C>G (p.Ala14Gly)
7g.24706186G>TCA367046838GSDMEc.1181C>A (p.Ala394Glu)
c.689C>A (p.Ala230Glu)
c.41C>A (p.Ala14Glu)
7g.24706186dupCA2578849395GSDMEc.1181dup (p.Glu395ArgfsTer5)
c.689dup (p.Glu231ArgfsTer5)
c.41dup (p.Glu15ArgfsTer5)
7g.24706187C>ACA367046840GSDMEc.1180G>T (p.Ala394Ser)
c.688G>T (p.Ala230Ser)
c.40G>T (p.Ala14Ser)
 gnomAD v4 COSMIC
7g.24706187C=CA1695103417GSDMEc.1180G= (p.Ala394=)
c.688G= (p.Ala230=)
c.40G= (p.Ala14=)
7g.24706187C>GCA367046841GSDMEc.1180G>C (p.Ala394Pro)
c.688G>C (p.Ala230Pro)
c.40G>C (p.Ala14Pro)
 dbSNP gnomAD v3 gnomAD v4
7g.24706187C>TCA367046842GSDMEc.1180G>A (p.Ala394Thr)
c.688G>A (p.Ala230Thr)
c.40G>A (p.Ala14Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.24706188G>ACA4191391GSDMEc.1179C>T (p.Leu393=)
c.687C>T (p.Leu229=)
c.39C>T (p.Leu13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706188G>CCA454019376GSDMEc.1179C>G (p.Leu393=)
c.687C>G (p.Leu229=)
c.39C>G (p.Leu13=)
7g.24706188G=CA1695103426GSDMEc.1179C= (p.Leu393=)
c.687C= (p.Leu229=)
c.39C= (p.Leu13=)
7g.24706188G>TCA454019377GSDMEc.1179C>A (p.Leu393=)
c.687C>A (p.Leu229=)
c.39C>A (p.Leu13=)
 gnomAD v4
7g.24706189A>CCA367046843GSDMEc.1178T>G (p.Leu393Arg)
c.686T>G (p.Leu229Arg)
c.38T>G (p.Leu13Arg)
7g.24706189A>GCA367046845GSDMEc.1178T>C (p.Leu393Pro)
c.686T>C (p.Leu229Pro)
c.38T>C (p.Leu13Pro)
7g.24706189A>TCA367046844GSDMEc.1178T>A (p.Leu393His)
c.686T>A (p.Leu229His)
c.38T>A (p.Leu13His)
7g.24706190G>ACA367046846GSDMEc.1177C>T (p.Leu393Phe)
c.685C>T (p.Leu229Phe)
c.37C>T (p.Leu13Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.24706190G>CCA367046848GSDMEc.1177C>G (p.Leu393Val)
c.685C>G (p.Leu229Val)
c.37C>G (p.Leu13Val)
7g.24706190G=CA1695103435GSDMEc.1177C= (p.Leu393=)
c.685C= (p.Leu229=)
c.37C= (p.Leu13=)
7g.24706190G>TCA367046847GSDMEc.1177C>A (p.Leu393Ile)
c.685C>A (p.Leu229Ile)
c.37C>A (p.Leu13Ile)
 COSMIC
7g.24706191G>ACA454019378GSDMEc.1176C>T (p.Ala392=)
c.684C>T (p.Ala228=)
c.36C>T (p.Ala12=)
7g.24706191G>CCA454019379GSDMEc.1176C>G (p.Ala392=)
c.684C>G (p.Ala228=)
c.36C>G (p.Ala12=)
7g.24706191G>TCA454019380GSDMEc.1176C>A (p.Ala392=)
c.684C>A (p.Ala228=)
c.36C>A (p.Ala12=)
7g.24706192G>ACA367046849GSDMEc.1175C>T (p.Ala392Val)
c.683C>T (p.Ala228Val)
c.35C>T (p.Ala12Val)
 dbSNP gnomAD v4
7g.24706192G>CCA367046850GSDMEc.1175C>G (p.Ala392Gly)
c.683C>G (p.Ala228Gly)
c.35C>G (p.Ala12Gly)
7g.24706192G=CA1695103440GSDMEc.1175C= (p.Ala392=)
c.683C= (p.Ala228=)
c.35C= (p.Ala12=)
7g.24706192G>TCA367046851GSDMEc.1175C>A (p.Ala392Asp)
c.683C>A (p.Ala228Asp)
c.35C>A (p.Ala12Asp)
7g.24706193C>ACA367046852GSDMEc.1174G>T (p.Ala392Ser)
c.682G>T (p.Ala228Ser)
c.34G>T (p.Ala12Ser)
7g.24706193C=CA1695103446GSDMEc.1174G= (p.Ala392=)
c.682G= (p.Ala228=)
c.34G= (p.Ala12=)
7g.24706193C>GCA367046853GSDMEc.1174G>C (p.Ala392Pro)
c.682G>C (p.Ala228Pro)
c.34G>C (p.Ala12Pro)
7g.24706193C>TCA367046854GSDMEc.1174G>A (p.Ala392Thr)
c.682G>A (p.Ala228Thr)
c.34G>A (p.Ala12Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.24706193_24706194insGCA4191392GSDMEc.1173_1174insC (p.Ala392ArgfsTer8)
c.681_682insC (p.Ala228ArgfsTer8)
c.33_34insC (p.Ala12ArgfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706194A>CCA367046855GSDMEc.1173T>G (p.Ser391Arg)
c.681T>G (p.Ser227Arg)
c.33T>G (p.Ser11Arg)
7g.24706194A>GCA454019381GSDMEc.1173T>C (p.Ser391=)
c.681T>C (p.Ser227=)
c.33T>C (p.Ser11=)
7g.24706194A>TCA367046856GSDMEc.1173T>A (p.Ser391Arg)
c.681T>A (p.Ser227Arg)
c.33T>A (p.Ser11Arg)
7g.24706195C>ACA367046857GSDMEc.1172G>T (p.Ser391Ile)
c.680G>T (p.Ser227Ile)
c.32G>T (p.Ser11Ile)
7g.24706195C>GCA367046858GSDMEc.1172G>C (p.Ser391Thr)
c.680G>C (p.Ser227Thr)
c.32G>C (p.Ser11Thr)
7g.24706195C>TCA367046859GSDMEc.1172G>A (p.Ser391Asn)
c.680G>A (p.Ser227Asn)
c.32G>A (p.Ser11Asn)
7g.24706196T>ACA367046862GSDMEc.1171A>T (p.Ser391Cys)
c.679A>T (p.Ser227Cys)
c.31A>T (p.Ser11Cys)
7g.24706196T>CCA367046860GSDMEc.1171A>G (p.Ser391Gly)
c.679A>G (p.Ser227Gly)
c.31A>G (p.Ser11Gly)
 gnomAD v4
7g.24706196T>GCA367046861GSDMEc.1171A>C (p.Ser391Arg)
c.679A>C (p.Ser227Arg)
c.31A>C (p.Ser11Arg)
7g.24706197G>ACA454019382GSDMEc.1170C>T (p.Val390=)
c.678C>T (p.Val226=)
c.30C>T (p.Val10=)
7g.24706197G>CCA454019383GSDMEc.1170C>G (p.Val390=)
c.678C>G (p.Val226=)
c.30C>G (p.Val10=)
7g.24706197G>TCA454019384GSDMEc.1170C>A (p.Val390=)
c.678C>A (p.Val226=)
c.30C>A (p.Val10=)
7g.24706198A=CA1695103455GSDMEc.1169T= (p.Val390=)
c.677T= (p.Val226=)
c.29T= (p.Val10=)
7g.24706198A>CCA367046863GSDMEc.1169T>G (p.Val390Gly)
c.677T>G (p.Val226Gly)
c.29T>G (p.Val10Gly)
 dbSNP
7g.24706198A>GCA367046864GSDMEc.1169T>C (p.Val390Ala)
c.677T>C (p.Val226Ala)
c.29T>C (p.Val10Ala)
7g.24706198A>TCA367046865GSDMEc.1169T>A (p.Val390Asp)
c.677T>A (p.Val226Asp)
c.29T>A (p.Val10Asp)
 COSMIC
7g.24706199C>ACA367046866GSDMEc.1168G>T (p.Val390Phe)
c.676G>T (p.Val226Phe)
c.28G>T (p.Val10Phe)
7g.24706199C>GCA367046867GSDMEc.1168G>C (p.Val390Leu)
c.676G>C (p.Val226Leu)
c.28G>C (p.Val10Leu)
7g.24706199C>TCA367046868GSDMEc.1168G>A (p.Val390Ile)
c.676G>A (p.Val226Ile)
c.28G>A (p.Val10Ile)
7g.24706200C>ACA367046869GSDMEc.1167G>T (p.Leu389Phe)
c.675G>T (p.Leu225Phe)
c.27G>T (p.Leu9Phe)
 gnomAD v4
7g.24706200C>GCA367046870GSDMEc.1167G>C (p.Leu389Phe)
c.675G>C (p.Leu225Phe)
c.27G>C (p.Leu9Phe)
 gnomAD v4
7g.24706200C>TCA454019385GSDMEc.1167G>A (p.Leu389=)
c.675G>A (p.Leu225=)
c.27G>A (p.Leu9=)
7g.24706200_24706203delinsCAAGCA1695103457GSDMEc.1164_1167delinsCTTG (p.Phe388=)
c.672_675delinsCTTG (p.Phe224=)
c.24_27delinsCTTG (p.Phe8=)
7g.24706201A>CCA367046871GSDMEc.1166T>G (p.Leu389Trp)
c.674T>G (p.Leu225Trp)
c.26T>G (p.Leu9Trp)
7g.24706201A>GCA367046872GSDMEc.1166T>C (p.Leu389Ser)
c.674T>C (p.Leu225Ser)
c.26T>C (p.Leu9Ser)
7g.24706201A>TCA367046873GSDMEc.1166T>A (p.Leu389Ter)
c.674T>A (p.Leu225Ter)
c.26T>A (p.Leu9Ter)
7g.24706204_24706206delCA1695103460GSDMEc.1164_1166del (p.Phe388del)
c.672_674del (p.Phe224del)
c.24_26del (p.Phe8del)
 dbSNP
7g.24706202A>CCA367046874GSDMEc.1165T>G (p.Leu389Val)
c.673T>G (p.Leu225Val)
c.25T>G (p.Leu9Val)
7g.24706202A>GCA454019386GSDMEc.1165T>C (p.Leu389=)
c.673T>C (p.Leu225=)
c.25T>C (p.Leu9=)
 gnomAD v4
7g.24706202A>TCA367046875GSDMEc.1165T>A (p.Leu389Met)
c.673T>A (p.Leu225Met)
c.25T>A (p.Leu9Met)
7g.24706203G>ACA454019387GSDMEc.1164C>T (p.Phe388=)
c.672C>T (p.Phe224=)
c.24C>T (p.Phe8=)
 ClinVar
7g.24706203G>CCA367046876GSDMEc.1164C>G (p.Phe388Leu)
c.672C>G (p.Phe224Leu)
c.24C>G (p.Phe8Leu)
7g.24706203G>TCA367046877GSDMEc.1164C>A (p.Phe388Leu)
c.672C>A (p.Phe224Leu)
c.24C>A (p.Phe8Leu)
7g.24706204A=CA1695103464GSDMEc.1163T= (p.Phe388=)
c.671T= (p.Phe224=)
c.23T= (p.Phe8=)
7g.24706204A>CCA367046878GSDMEc.1163T>G (p.Phe388Cys)
c.671T>G (p.Phe224Cys)
c.23T>G (p.Phe8Cys)
 dbSNP gnomAD v4
7g.24706204A>GCA367046879GSDMEc.1163T>C (p.Phe388Ser)
c.671T>C (p.Phe224Ser)
c.23T>C (p.Phe8Ser)
7g.24706204A>TCA367046880GSDMEc.1163T>A (p.Phe388Tyr)
c.671T>A (p.Phe224Tyr)
c.23T>A (p.Phe8Tyr)
7g.24706204_24706207delinsAAGTCA1695103466GSDMEc.1160_1163delinsACTT (p.Tyr387=)
c.668_671delinsACTT (p.Tyr223=)
c.20_23delinsACTT (p.Tyr7=)
7g.24706205A=CA1695103471GSDMEc.1162T= (p.Phe388=)
c.670T= (p.Phe224=)
c.22T= (p.Phe8=)
7g.24706205A>CCA367046881GSDMEc.1162T>G (p.Phe388Val)
c.670T>G (p.Phe224Val)
c.22T>G (p.Phe8Val)
7g.24706205A>GCA4191393GSDMEc.1162T>C (p.Phe388Leu)
c.670T>C (p.Phe224Leu)
c.22T>C (p.Phe8Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706205A>TCA367046882GSDMEc.1162T>A (p.Phe388Ile)
c.670T>A (p.Phe224Ile)
c.22T>A (p.Phe8Ile)
7g.24706207_24706209delCA1695103469GSDMEc.1160_1162del (p.Tyr387del)
c.668_670del (p.Tyr223del)
c.20_22del (p.Tyr7del)
 dbSNP
7g.24706206G>ACA454019389GSDMEc.1161C>T (p.Tyr387=)
c.669C>T (p.Tyr223=)
c.21C>T (p.Tyr7=)
7g.24706206G>CCA367046883GSDMEc.1161C>G (p.Tyr387Ter)
c.669C>G (p.Tyr223Ter)
c.21C>G (p.Tyr7Ter)
7g.24706206G>TCA367046884GSDMEc.1161C>A (p.Tyr387Ter)
c.669C>A (p.Tyr223Ter)
c.21C>A (p.Tyr7Ter)
7g.24706207_24706210delCA2695207533GSDMEc.1158_1161del (p.Tyr387SerfsTer?)
c.666_669del (p.Tyr223SerfsTer?)
c.18_21del (p.Tyr7SerfsTer?)
7g.24706207T>ACA367046885GSDMEc.1160A>T (p.Tyr387Phe)
c.668A>T (p.Tyr223Phe)
c.20A>T (p.Tyr7Phe)
7g.24706207T>CCA367046886GSDMEc.1160A>G (p.Tyr387Cys)
c.668A>G (p.Tyr223Cys)
c.20A>G (p.Tyr7Cys)
 gnomAD v4
7g.24706207T>GCA367046887GSDMEc.1160A>C (p.Tyr387Ser)
c.668A>C (p.Tyr223Ser)
c.20A>C (p.Tyr7Ser)
7g.24706208A>CCA367046890GSDMEc.1159T>G (p.Tyr387Asp)
c.667T>G (p.Tyr223Asp)
c.19T>G (p.Tyr7Asp)
7g.24706208A>GCA367046888GSDMEc.1159T>C (p.Tyr387His)
c.667T>C (p.Tyr223His)
c.19T>C (p.Tyr7His)
7g.24706208A>TCA367046889GSDMEc.1159T>A (p.Tyr387Asn)
c.667T>A (p.Tyr223Asn)
c.19T>A (p.Tyr7Asn)
7g.24706208_24706211dupCA2682080225GSDMEc.1156_1159dup (p.Tyr387CysfsTer14)
c.664_667dup (p.Tyr223CysfsTer14)
c.16_19dup (p.Tyr7CysfsTer14)
 gnomAD v4
7g.24706209G>ACA454019390GSDMEc.1158C>T (p.Ala386=)
c.666C>T (p.Ala222=)
c.18C>T (p.Ala6=)
7g.24706209G>CCA454019391GSDMEc.1158C>G (p.Ala386=)
c.666C>G (p.Ala222=)
c.18C>G (p.Ala6=)
7g.24706209G>TCA454019392GSDMEc.1158C>A (p.Ala386=)
c.666C>A (p.Ala222=)
c.18C>A (p.Ala6=)
7g.24706210G>ACA367046891GSDMEc.1157C>T (p.Ala386Val)
c.665C>T (p.Ala222Val)
c.17C>T (p.Ala6Val)
7g.24706210G>CCA367046892GSDMEc.1157C>G (p.Ala386Gly)
c.665C>G (p.Ala222Gly)
c.17C>G (p.Ala6Gly)
7g.24706210G>TCA367046893GSDMEc.1157C>A (p.Ala386Asp)
c.665C>A (p.Ala222Asp)
c.17C>A (p.Ala6Asp)
 gnomAD v4
7g.24706211C>ACA367046894GSDMEc.1156G>T (p.Ala386Ser)
c.664G>T (p.Ala222Ser)
c.16G>T (p.Ala6Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.24706211C=CA1695103476GSDMEc.1156G= (p.Ala386=)
c.664G= (p.Ala222=)
c.16G= (p.Ala6=)
7g.24706211C>GCA367046895GSDMEc.1156G>C (p.Ala386Pro)
c.664G>C (p.Ala222Pro)
c.16G>C (p.Ala6Pro)
7g.24706211C>TCA4191394GSDMEc.1156G>A (p.Ala386Thr)
c.664G>A (p.Ala222Thr)
c.16G>A (p.Ala6Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706212T>ACA454019393GSDMEc.1155A>T (p.Thr385=)
c.663A>T (p.Thr221=)
c.15A>T (p.Thr5=)
7g.24706212T>CCA454019394GSDMEc.1155A>G (p.Thr385=)
c.663A>G (p.Thr221=)
c.15A>G (p.Thr5=)
7g.24706212T>GCA454019395GSDMEc.1155A>C (p.Thr385=)
c.663A>C (p.Thr221=)
c.15A>C (p.Thr5=)
7g.24706213G>ACA367046896GSDMEc.1154C>T (p.Thr385Ile)
c.662C>T (p.Thr221Ile)
c.14C>T (p.Thr5Ile)
7g.24706213G>CCA367046897GSDMEc.1154C>G (p.Thr385Arg)
c.662C>G (p.Thr221Arg)
c.14C>G (p.Thr5Arg)
7g.24706213G>TCA367046898GSDMEc.1154C>A (p.Thr385Lys)
c.662C>A (p.Thr221Lys)
c.14C>A (p.Thr5Lys)
7g.24706214T>ACA367046899GSDMEc.1153A>T (p.Thr385Ser)
c.661A>T (p.Thr221Ser)
c.13A>T (p.Thr5Ser)
7g.24706214T>CCA367046900GSDMEc.1153A>G (p.Thr385Ala)
c.661A>G (p.Thr221Ala)
c.13A>G (p.Thr5Ala)
7g.24706214T>GCA367046901GSDMEc.1153A>C (p.Thr385Pro)
c.661A>C (p.Thr221Pro)
c.13A>C (p.Thr5Pro)
7g.24706215C>ACA367046903GSDMEc.1152G>T (p.Met384Ile)
c.660G>T (p.Met220Ile)
c.12G>T (p.Met4Ile)
7g.24706215C>GCA367046904GSDMEc.1152G>C (p.Met384Ile)
c.660G>C (p.Met220Ile)
c.12G>C (p.Met4Ile)
 gnomAD v4
7g.24706215C>TCA367046902GSDMEc.1152G>A (p.Met384Ile)
c.660G>A (p.Met220Ile)
c.12G>A (p.Met4Ile)
7g.24706216A>CCA367046906GSDMEc.1151T>G (p.Met384Arg)
c.659T>G (p.Met220Arg)
c.11T>G (p.Met4Arg)
7g.24706216A>GCA367046905GSDMEc.1151T>C (p.Met384Thr)
c.659T>C (p.Met220Thr)
c.11T>C (p.Met4Thr)
7g.24706216A>TCA367046907GSDMEc.1151T>A (p.Met384Lys)
c.659T>A (p.Met220Lys)
c.11T>A (p.Met4Lys)
7g.24706217T>ACA367046908GSDMEc.1150A>T (p.Met384Leu)
c.658A>T (p.Met220Leu)
c.10A>T (p.Met4Leu)
7g.24706217T>CCA155341463GSDMEc.1150A>G (p.Met384Val)
c.658A>G (p.Met220Val)
c.10A>G (p.Met4Val)
 ClinVar dbSNP gnomAD v4
7g.24706217T>GCA367046909GSDMEc.1150A>C (p.Met384Leu)
c.658A>C (p.Met220Leu)
c.10A>C (p.Met4Leu)
7g.24706217T=CA1695103478GSDMEc.1150A= (p.Met384=)
c.658A= (p.Met220=)
c.10A= (p.Met4=)
7g.24706218A=CA1695103484GSDMEc.1149T= (p.Phe383=)
c.657T= (p.Phe219=)
c.9T= (p.Phe3=)
7g.24706218A>CCA367046910GSDMEc.1149T>G (p.Phe383Leu)
c.657T>G (p.Phe219Leu)
c.9T>G (p.Phe3Leu)
7g.24706218A>GCA4191396GSDMEc.1149T>C (p.Phe383=)
c.657T>C (p.Phe219=)
c.9T>C (p.Phe3=)
 dbSNP ExAC gnomAD v2
7g.24706218A>TCA367046911GSDMEc.1149T>A (p.Phe383Leu)
c.657T>A (p.Phe219Leu)
c.9T>A (p.Phe3Leu)
7g.24706219_24706222dupCA4191395GSDMEc.1146_1149dup (p.Met384ValfsTer17)
c.654_657dup (p.Met220ValfsTer17)
c.6_9dup (p.Met4ValfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706219A>CCA367046912GSDMEc.1148T>G (p.Phe383Cys)
c.656T>G (p.Phe219Cys)
c.8T>G (p.Phe3Cys)
7g.24706219A>GCA367046913GSDMEc.1148T>C (p.Phe383Ser)
c.656T>C (p.Phe219Ser)
c.8T>C (p.Phe3Ser)
7g.24706219A>TCA367046914GSDMEc.1148T>A (p.Phe383Tyr)
c.656T>A (p.Phe219Tyr)
c.8T>A (p.Phe3Tyr)
7g.24706220A>CCA367046915GSDMEc.1147T>G (p.Phe383Val)
c.655T>G (p.Phe219Val)
c.7T>G (p.Phe3Val)
7g.24706220A>GCA367046916GSDMEc.1147T>C (p.Phe383Leu)
c.655T>C (p.Phe219Leu)
c.7T>C (p.Phe3Leu)
7g.24706220A>TCA367046917GSDMEc.1147T>A (p.Phe383Ile)
c.655T>A (p.Phe219Ile)
c.7T>A (p.Phe3Ile)
7g.24706221C>ACA454019396GSDMEc.1146G>T (p.Leu382=)
c.654G>T (p.Leu218=)
c.6G>T (p.Leu2=)
7g.24706221C=CA1695103487GSDMEc.1146G= (p.Leu382=)
c.654G= (p.Leu218=)
c.6G= (p.Leu2=)
7g.24706221C>GCA454019397GSDMEc.1146G>C (p.Leu382=)
c.654G>C (p.Leu218=)
c.6G>C (p.Leu2=)
7g.24706221C>TCA4191397GSDMEc.1146G>A (p.Leu382=)
c.654G>A (p.Leu218=)
c.6G>A (p.Leu2=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706222A>CCA367046918GSDMEc.1145T>G (p.Leu382Arg)
c.653T>G (p.Leu218Arg)
c.5T>G (p.Leu2Arg)
7g.24706222A>GCA367046919GSDMEc.1145T>C (p.Leu382Pro)
c.653T>C (p.Leu218Pro)
c.5T>C (p.Leu2Pro)
7g.24706222A>TCA367046920GSDMEc.1145T>A (p.Leu382Gln)
c.653T>A (p.Leu218Gln)
c.5T>A (p.Leu2Gln)
7g.24706223G>ACA454019398GSDMEc.1144C>T (p.Leu382=)
c.652C>T (p.Leu218=)
c.4C>T (p.Leu2=)
7g.24706223G>CCA367046921GSDMEc.1144C>G (p.Leu382Val)
c.652C>G (p.Leu218Val)
c.4C>G (p.Leu2Val)
7g.24706223G>TCA367046922GSDMEc.1144C>A (p.Leu382Met)
c.652C>A (p.Leu218Met)
c.4C>A (p.Leu2Met)
7g.24706228_24706234delCA2682080226GSDMEc.1138_1144del (p.Lys380CysfsTer3)
c.646_652del (p.Lys216CysfsTer3)
 gnomAD v4
7g.24706224C>ACA367046923GSDMEc.1143G>T (p.Gln381His)
c.651G>T (p.Gln217His)
c.3G>T (p.Gln1His)
7g.24706224C=CA1695103490GSDMEc.1143G= (p.Gln381=)
c.651G= (p.Gln217=)
c.3G= (p.Gln1=)
7g.24706224C>GCA367046924GSDMEc.1143G>C (p.Gln381His)
c.651G>C (p.Gln217His)
c.3G>C (p.Gln1His)
7g.24706224C>TCA4191398GSDMEc.1143G>A (p.Gln381=)
c.651G>A (p.Gln217=)
c.3G>A (p.Gln1=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706225T>ACA367046925GSDMEc.1142A>T (p.Gln381Leu)
c.650A>T (p.Gln217Leu)
c.2A>T (p.Gln1Leu)
7g.24706225T>CCA367046926GSDMEc.1142A>G (p.Gln381Arg)
c.650A>G (p.Gln217Arg)
c.2A>G (p.Gln1Arg)
7g.24706225T>GCA367046927GSDMEc.1142A>C (p.Gln381Pro)
c.650A>C (p.Gln217Pro)
c.2A>C (p.Gln1Pro)
7g.24706226G>ACA367046928GSDMEc.1141C>T (p.Gln381Ter)
c.649C>T (p.Gln217Ter)
c.1C>T (p.Gln1Ter)
7g.24706226G>CCA367046929GSDMEc.1141C>G (p.Gln381Glu)
c.649C>G (p.Gln217Glu)
c.1C>G (p.Gln1Glu)
7g.24706226G>TCA367046930GSDMEc.1141C>A (p.Gln381Lys)
c.649C>A (p.Gln217Lys)
c.1C>A (p.Gln1Lys)
7g.24706227C>ACA367046931GSDMEc.1140G>T (p.Lys380Asn)
c.648G>T (p.Lys216Asn)
7g.24706227C>GCA367046932GSDMEc.1140G>C (p.Lys380Asn)
c.648G>C (p.Lys216Asn)
7g.24706227C>TCA454019399GSDMEc.1140G>A (p.Lys380=)
c.648G>A (p.Lys216=)
7g.24706228T>ACA367046933GSDMEc.1139A>T (p.Lys380Met)
c.647A>T (p.Lys216Met)
7g.24706228T>CCA367046935GSDMEc.1139A>G (p.Lys380Arg)
c.647A>G (p.Lys216Arg)
7g.24706228T>GCA367046934GSDMEc.1139A>C (p.Lys380Thr)
c.647A>C (p.Lys216Thr)
7g.24706229T>ACA367046936GSDMEc.1138A>T (p.Lys380Ter)
c.646A>T (p.Lys216Ter)
7g.24706229T>CCA367046937GSDMEc.1138A>G (p.Lys380Glu)
c.646A>G (p.Lys216Glu)
 dbSNP gnomAD v3 gnomAD v4
7g.24706229T>GCA367046938GSDMEc.1138A>C (p.Lys380Gln)
c.646A>C (p.Lys216Gln)
7g.24706229T=CA1695103494GSDMEc.1138A= (p.Lys380=)
c.646A= (p.Lys216=)
7g.24706232_24706238delCA2682080227GSDMEc.1132_1138del (p.Gly378SerfsTer5)
c.640_646del (p.Gly214SerfsTer5)
 gnomAD v4
7g.24706230G>ACA454019400GSDMEc.1137C>T (p.Ser379=)
c.645C>T (p.Ser215=)
 gnomAD v4
7g.24706230G>CCA367046939GSDMEc.1137C>G (p.Ser379Arg)
c.645C>G (p.Ser215Arg)
7g.24706230G>TCA367046940GSDMEc.1137C>A (p.Ser379Arg)
c.645C>A (p.Ser215Arg)
7g.24706231C>ACA367046941GSDMEc.1136G>T (p.Ser379Ile)
c.644G>T (p.Ser215Ile)
 COSMIC
7g.24706231C>GCA367046942GSDMEc.1136G>C (p.Ser379Thr)
c.644G>C (p.Ser215Thr)
7g.24706231C>TCA367046943GSDMEc.1136G>A (p.Ser379Asn)
c.644G>A (p.Ser215Asn)
7g.24706232T>ACA367046944GSDMEc.1135A>T (p.Ser379Cys)
c.643A>T (p.Ser215Cys)
7g.24706232T>CCA367046945GSDMEc.1135A>G (p.Ser379Gly)
c.643A>G (p.Ser215Gly)
 gnomAD v4
7g.24706232T>GCA367046946GSDMEc.1135A>C (p.Ser379Arg)
c.643A>C (p.Ser215Arg)
7g.24706233G>ACA454019401GSDMEc.1134C>T (p.Gly378=)
c.642C>T (p.Gly214=)
7g.24706233G>CCA454019402GSDMEc.1134C>G (p.Gly378=)
c.642C>G (p.Gly214=)
7g.24706233G>TCA454019403GSDMEc.1134C>A (p.Gly378=)
c.642C>A (p.Gly214=)
7g.24706234C>ACA367046949GSDMEc.1133G>T (p.Gly378Val)
c.641G>T (p.Gly214Val)
7g.24706234C>GCA367046948GSDMEc.1133G>C (p.Gly378Ala)
c.641G>C (p.Gly214Ala)
7g.24706234C>TCA367046947GSDMEc.1133G>A (p.Gly378Asp)
c.641G>A (p.Gly214Asp)
7g.24706235C>ACA367046950GSDMEc.1132G>T (p.Gly378Cys)
c.640G>T (p.Gly214Cys)
7g.24706235C=CA1695103499GSDMEc.1132G= (p.Gly378=)
c.640G= (p.Gly214=)
7g.24706235C>GCA155341488GSDMEc.1132G>C (p.Gly378Arg)
c.640G>C (p.Gly214Arg)
 dbSNP
7g.24706235C>TCA367046951GSDMEc.1132G>A (p.Gly378Ser)
c.640G>A (p.Gly214Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.24706236T>ACA454019404GSDMEc.1131A>T (p.Ala377=)
c.639A>T (p.Ala213=)
7g.24706236T>CCA454019406GSDMEc.1131A>G (p.Ala377=)
c.639A>G (p.Ala213=)
 dbSNP
7g.24706236T>GCA454019405GSDMEc.1131A>C (p.Ala377=)
c.639A>C (p.Ala213=)
7g.24706237G>ACA367046952GSDMEc.1130C>T (p.Ala377Val)
c.638C>T (p.Ala213Val)
 COSMIC
7g.24706237G>CCA367046953GSDMEc.1130C>G (p.Ala377Gly)
c.638C>G (p.Ala213Gly)
7g.24706237G>TCA367046954GSDMEc.1130C>A (p.Ala377Glu)
c.638C>A (p.Ala213Glu)
7g.24706238C>ACA367046955GSDMEc.1129G>T (p.Ala377Ser)
c.637G>T (p.Ala213Ser)
7g.24706238C>GCA367046956GSDMEc.1129G>C (p.Ala377Pro)
c.637G>C (p.Ala213Pro)
 gnomAD v4
7g.24706238C>TCA367046957GSDMEc.1129G>A (p.Ala377Thr)
c.637G>A (p.Ala213Thr)
 gnomAD v4
7g.24706239A=CA1695103503GSDMEc.1128T= (p.Asp376=)
c.636T= (p.Asp212=)
7g.24706239A>CCA367046958GSDMEc.1128T>G (p.Asp376Glu)
c.636T>G (p.Asp212Glu)
7g.24706239A>GCA4191399GSDMEc.1128T>C (p.Asp376=)
c.636T>C (p.Asp212=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706239A>TCA367046959GSDMEc.1128T>A (p.Asp376Glu)
c.636T>A (p.Asp212Glu)
7g.24706240T>ACA367046962GSDMEc.1127A>T (p.Asp376Val)
c.635A>T (p.Asp212Val)
7g.24706240T>CCA367046960GSDMEc.1127A>G (p.Asp376Gly)
c.635A>G (p.Asp212Gly)
7g.24706240T>GCA367046961GSDMEc.1127A>C (p.Asp376Ala)
c.635A>C (p.Asp212Ala)
7g.24706241C>ACA367046963GSDMEc.1126G>T (p.Asp376Tyr)
c.634G>T (p.Asp212Tyr)
7g.24706241C>GCA367046965GSDMEc.1126G>C (p.Asp376His)
c.634G>C (p.Asp212His)
7g.24706241C>TCA367046964GSDMEc.1126G>A (p.Asp376Asn)
c.634G>A (p.Asp212Asn)
 gnomAD v4
7g.24706242C>ACA367046966GSDMEc.1125G>T (p.Glu375Asp)
c.633G>T (p.Glu211Asp)
7g.24706242C=CA1695103507GSDMEc.1125G= (p.Glu375=)
c.633G= (p.Glu211=)
7g.24706242C>GCA4191400GSDMEc.1125G>C (p.Glu375Asp)
c.633G>C (p.Glu211Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706242C>TCA454019407GSDMEc.1125G>A (p.Glu375=)
c.633G>A (p.Glu211=)
 gnomAD v4
7g.24706243T>ACA367046967GSDMEc.1124A>T (p.Glu375Val)
c.632A>T (p.Glu211Val)
7g.24706243T>CCA367046968GSDMEc.1124A>G (p.Glu375Gly)
c.632A>G (p.Glu211Gly)
7g.24706243T>GCA367046969GSDMEc.1124A>C (p.Glu375Ala)
c.632A>C (p.Glu211Ala)
7g.24706244C>ACA367046970GSDMEc.1123G>T (p.Glu375Ter)
c.631G>T (p.Glu211Ter)
 gnomAD v4
7g.24706244C=CA1695103512GSDMEc.1123G= (p.Glu375=)
c.631G= (p.Glu211=)
7g.24706244C>GCA367046971GSDMEc.1123G>C (p.Glu375Gln)
c.631G>C (p.Glu211Gln)
7g.24706244C>TCA4191401GSDMEc.1123G>A (p.Glu375Lys)
c.631G>A (p.Glu211Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706245G>ACA182126GSDMEc.1122C>T (p.Pro374=)
c.630C>T (p.Pro210=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706245G>CCA454019408GSDMEc.1122C>G (p.Pro374=)
c.630C>G (p.Pro210=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.24706245G=CA1695103519GSDMEc.1122C= (p.Pro374=)
c.630C= (p.Pro210=)
7g.24706245G>TCA454019409GSDMEc.1122C>A (p.Pro374=)
c.630C>A (p.Pro210=)
7g.24706246G>ACA4191402GSDMEc.1121C>T (p.Pro374Leu)
c.629C>T (p.Pro210Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706246G>CCA367046972GSDMEc.1121C>G (p.Pro374Arg)
c.629C>G (p.Pro210Arg)
7g.24706246G=CA1695103530GSDMEc.1121C= (p.Pro374=)
c.629C= (p.Pro210=)
7g.24706246G>TCA367046973GSDMEc.1121C>A (p.Pro374His)
c.629C>A (p.Pro210His)
7g.24706247G>ACA367046976GSDMEc.1120C>T (p.Pro374Ser)
c.628C>T (p.Pro210Ser)
 COSMIC
7g.24706247G>CCA367046975GSDMEc.1120C>G (p.Pro374Ala)
c.628C>G (p.Pro210Ala)
7g.24706247G>TCA367046974GSDMEc.1120C>A (p.Pro374Thr)
c.628C>A (p.Pro210Thr)
7g.24706248G>ACA454019410GSDMEc.1119C>T (p.Gly373=)
c.627C>T (p.Gly209=)
7g.24706248G>CCA454019411GSDMEc.1119C>G (p.Gly373=)
c.627C>G (p.Gly209=)
 dbSNP gnomAD v4
7g.24706248G=CA1695103537GSDMEc.1119C= (p.Gly373=)
c.627C= (p.Gly209=)
7g.24706248G>TCA454019412GSDMEc.1119C>A (p.Gly373=)
c.627C>A (p.Gly209=)
 gnomAD v4
7g.24706249C>ACA367046977GSDMEc.1118G>T (p.Gly373Val)
c.626G>T (p.Gly209Val)
7g.24706249C=CA1695103544GSDMEc.1118G= (p.Gly373=)
c.626G= (p.Gly209=)
7g.24706249C>GCA367046978GSDMEc.1118G>C (p.Gly373Ala)
c.626G>C (p.Gly209Ala)
7g.24706249C>TCA182128GSDMEc.1118G>A (p.Gly373Asp)
c.626G>A (p.Gly209Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706250C>ACA367046979GSDMEc.1117G>T (p.Gly373Cys)
c.625G>T (p.Gly209Cys)
7g.24706250C=CA1695103551GSDMEc.1117G= (p.Gly373=)
c.625G= (p.Gly209=)
7g.24706250C>GCA367046980GSDMEc.1117G>C (p.Gly373Arg)
c.625G>C (p.Gly209Arg)
7g.24706250C>TCA367046981GSDMEc.1117G>A (p.Gly373Ser)
c.625G>A (p.Gly209Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.24706251C>ACA454019413GSDMEc.1116G>T (p.Pro372=)
c.624G>T (p.Pro208=)
7g.24706251C=CA1695103556GSDMEc.1116G= (p.Pro372=)
c.624G= (p.Pro208=)
7g.24706251C>GCA454019414GSDMEc.1116G>C (p.Pro372=)
c.624G>C (p.Pro208=)
7g.24706251C>TCA4191403GSDMEc.1116G>A (p.Pro372=)
c.624G>A (p.Pro208=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706252G>ACA4191404GSDMEc.1115C>T (p.Pro372Leu)
c.623C>T (p.Pro208Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706252G>CCA367046982GSDMEc.1115C>G (p.Pro372Arg)
c.623C>G (p.Pro208Arg)
7g.24706252G=CA1695103559GSDMEc.1115C= (p.Pro372=)
c.623C= (p.Pro208=)
7g.24706252G>TCA367046983GSDMEc.1115C>A (p.Pro372Gln)
c.623C>A (p.Pro208Gln)
 gnomAD v4
7g.24706253G>ACA367046984GSDMEc.1114C>T (p.Pro372Ser)
c.622C>T (p.Pro208Ser)
 gnomAD v4 COSMIC
7g.24706253G>CCA367046985GSDMEc.1114C>G (p.Pro372Ala)
c.622C>G (p.Pro208Ala)
7g.24706253G>TCA367046986GSDMEc.1114C>A (p.Pro372Thr)
c.622C>A (p.Pro208Thr)
7g.24706253_24706257dupCA2739266367GSDMEc.1110_1114dup (p.Pro372ArgfsTer15)
c.618_622dup (p.Pro208ArgfsTer15)
 ClinVar
7g.24706254A=CA1695103563GSDMEc.1113T= (p.Cys371=)
c.621T= (p.Cys207=)
7g.24706254A>CCA367046987GSDMEc.1113T>G (p.Cys371Trp)
c.621T>G (p.Cys207Trp)
 dbSNP gnomAD v3 gnomAD v4
7g.24706254A>GCA454019415GSDMEc.1113T>C (p.Cys371=)
c.621T>C (p.Cys207=)
 dbSNP
7g.24706254A>TCA367046988GSDMEc.1113T>A (p.Cys371Ter)
c.621T>A (p.Cys207Ter)
7g.24706255_24706267delCA2682080228GSDMEc.1101_1113del (p.Leu367PhefsTer14)
c.609_621del (p.Leu203PhefsTer14)
 gnomAD v4
7g.24706256_24706280dupCA2580076960GSDMEc.1089_1113dup (p.Pro372GlyfsTer36)
c.597_621dup (p.Pro208GlyfsTer36)
 ClinVar
7g.24706255C>ACA367046989GSDMEc.1112G>T (p.Cys371Phe)
c.620G>T (p.Cys207Phe)
 dbSNP gnomAD v2
7g.24706255C=CA1695103566GSDMEc.1112G= (p.Cys371=)
c.620G= (p.Cys207=)
7g.24706255C>GCA367046990GSDMEc.1112G>C (p.Cys371Ser)
c.620G>C (p.Cys207Ser)
7g.24706255C>TCA367046991GSDMEc.1112G>A (p.Cys371Tyr)
c.620G>A (p.Cys207Tyr)
7g.24706256A=CA1695103568GSDMEc.1111T= (p.Cys371=)
c.619T= (p.Cys207=)
7g.24706256A>CCA4191405GSDMEc.1111T>G (p.Cys371Gly)
c.619T>G (p.Cys207Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706256A>GCA367046992GSDMEc.1111T>C (p.Cys371Arg)
c.619T>C (p.Cys207Arg)
 gnomAD v4
7g.24706256A>TCA367046993GSDMEc.1111T>A (p.Cys371Ser)
c.619T>A (p.Cys207Ser)
7g.24706257C>ACA454019418GSDMEc.1110G>T (p.Gly370=)
c.618G>T (p.Gly206=)
7g.24706257C>GCA454019417GSDMEc.1110G>C (p.Gly370=)
c.618G>C (p.Gly206=)
7g.24706257C>TCA454019416GSDMEc.1110G>A (p.Gly370=)
c.618G>A (p.Gly206=)
7g.24706258C>ACA367046994GSDMEc.1109G>T (p.Gly370Val)
c.617G>T (p.Gly206Val)
7g.24706258C=CA1695103571GSDMEc.1109G= (p.Gly370=)
c.617G= (p.Gly206=)
7g.24706258C>GCA367046995GSDMEc.1109G>C (p.Gly370Ala)
c.617G>C (p.Gly206Ala)
7g.24706258C>TCA4191406GSDMEc.1109G>A (p.Gly370Glu)
c.617G>A (p.Gly206Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706259C>ACA367046996GSDMEc.1108G>T (p.Gly370Trp)
c.616G>T (p.Gly206Trp)
7g.24706259C=CA1695103574GSDMEc.1108G= (p.Gly370=)
c.616G= (p.Gly206=)
7g.24706259C>GCA367046997GSDMEc.1108G>C (p.Gly370Arg)
c.616G>C (p.Gly206Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.24706259C>TCA4191407GSDMEc.1108G>A (p.Gly370Arg)
c.616G>A (p.Gly206Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706260A>CCA454019421GSDMEc.1107T>G (p.Gly369=)
c.615T>G (p.Gly205=)
7g.24706260A>GCA454019420GSDMEc.1107T>C (p.Gly369=)
c.615T>C (p.Gly205=)
 gnomAD v4
7g.24706260A>TCA454019419GSDMEc.1107T>A (p.Gly369=)
c.615T>A (p.Gly205=)
7g.24706261C>ACA367046999GSDMEc.1106G>T (p.Gly369Val)
c.614G>T (p.Gly205Val)
7g.24706261C>GCA367047000GSDMEc.1106G>C (p.Gly369Ala)
c.614G>C (p.Gly205Ala)
7g.24706261C>TCA367046998GSDMEc.1106G>A (p.Gly369Asp)
c.614G>A (p.Gly205Asp)
 COSMIC
7g.24706262C>ACA367047001GSDMEc.1105G>T (p.Gly369Cys)
c.613G>T (p.Gly205Cys)
7g.24706262C=CA1695103579GSDMEc.1105G= (p.Gly369=)
c.613G= (p.Gly205=)
7g.24706262C>GCA367047002GSDMEc.1105G>C (p.Gly369Arg)
c.613G>C (p.Gly205Arg)
7g.24706262C>TCA4191408GSDMEc.1105G>A (p.Gly369Ser)
c.613G>A (p.Gly205Ser)
 dbSNP ExAC gnomAD v4
7g.24706263C>ACA367047003GSDMEc.1104G>T (p.Gln368His)
c.612G>T (p.Gln204His)
 gnomAD v4
7g.24706263C=CA1695103584GSDMEc.1104G= (p.Gln368=)
c.612G= (p.Gln204=)
7g.24706263C>GCA4191409GSDMEc.1104G>C (p.Gln368His)
c.612G>C (p.Gln204His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.24706263C>TCA454019422GSDMEc.1104G>A (p.Gln368=)
c.612G>A (p.Gln204=)
7g.24706264T>ACA367047006GSDMEc.1103A>T (p.Gln368Leu)
c.611A>T (p.Gln204Leu)
 gnomAD v4
7g.24706264T>CCA367047004GSDMEc.1103A>G (p.Gln368Arg)
c.611A>G (p.Gln204Arg)
 gnomAD v4
7g.24706264T>GCA367047005GSDMEc.1103A>C (p.Gln368Pro)
c.611A>C (p.Gln204Pro)
 dbSNP
7g.24706264T=CA1695103589GSDMEc.1103A= (p.Gln368=)
c.611A= (p.Gln204=)
7g.24706264_24706318dupCA2580076961GSDMEc.1049_1103dup (p.Gln368HisfsTer?)
c.557_611dup (p.Gln204HisfsTer?)
 ClinVar
7g.24706265G>ACA367047007GSDMEc.1102C>T (p.Gln368Ter)
c.610C>T (p.Gln204Ter)
 gnomAD v4
7g.24706265G>CCA367047008GSDMEc.1102C>G (p.Gln368Glu)
c.610C>G (p.Gln204Glu)
 ClinVar dbSNP
7g.24706265G>TCA367047009GSDMEc.1102C>A (p.Gln368Lys)
c.610C>A (p.Gln204Lys)
7g.24706266T>ACA367047010GSDMEc.1101A>T (p.Leu367Phe)
c.609A>T (p.Leu203Phe)
7g.24706266T>CCA454019423GSDMEc.1101A>G (p.Leu367=)
c.609A>G (p.Leu203=)
7g.24706266T>GCA367047011GSDMEc.1101A>C (p.Leu367Phe)
c.609A>C (p.Leu203Phe)
7g.24706266T=CA1695103592GSDMEc.1101A= (p.Leu367=)
c.609A= (p.Leu203=)
7g.24706267A=CA1695103596GSDMEc.1100T= (p.Leu367=)
c.608T= (p.Leu203=)
7g.24706267A>CCA367047012GSDMEc.1100T>G (p.Leu367Ter)
c.608T>G (p.Leu203Ter)
7g.24706267A>GCA4191410GSDMEc.1100T>C (p.Leu367Ser)
c.608T>C (p.Leu203Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706267A>TCA367047013GSDMEc.1100T>A (p.Leu367Ter)
c.608T>A (p.Leu203Ter)
7g.24706268dupCA917965777GSDMEc.1100dup (p.Leu367PhefsTer?)
c.608dup (p.Leu203PhefsTer?)
 dbSNP gnomAD v4
7g.24706267_24706281delinsAAGCTGCACCCCACCCA1695103599GSDMEc.1086_1100delinsGGTGGGGTGCAGCTT (p.Leu362=)
c.594_608delinsGGTGGGGTGCAGCTT (p.Leu198=)
7g.24706268A>CCA367047014GSDMEc.1099T>G (p.Leu367Val)
c.607T>G (p.Leu203Val)
7g.24706268A>GCA454019424GSDMEc.1099T>C (p.Leu367=)
c.607T>C (p.Leu203=)
7g.24706268A>TCA367047015GSDMEc.1099T>A (p.Leu367Ile)
c.607T>A (p.Leu203Ile)
7g.24706275_24706288delCA1695103605GSDMEc.1086_1099del (p.Val363ThrfsTer?)
c.594_607del (p.Val199ThrfsTer?)
 dbSNP gnomAD v4
7g.24706269G>ACA454019425GSDMEc.1098C>T (p.Ser366=)
c.606C>T (p.Ser202=)
 gnomAD v4
7g.24706269G>CCA367047016GSDMEc.1098C>G (p.Ser366Arg)
c.606C>G (p.Ser202Arg)
7g.24706269G>TCA367047017GSDMEc.1098C>A (p.Ser366Arg)
c.606C>A (p.Ser202Arg)
7g.24706270C>ACA367047018GSDMEc.1097G>T (p.Ser366Ile)
c.605G>T (p.Ser202Ile)
7g.24706270C=CA1695103607GSDMEc.1097G= (p.Ser366=)
c.605G= (p.Ser202=)
7g.24706270C>GCA155341549GSDMEc.1097G>C (p.Ser366Thr)
c.605G>C (p.Ser202Thr)
 dbSNP
7g.24706270C>TCA367047019GSDMEc.1097G>A (p.Ser366Asn)
c.605G>A (p.Ser202Asn)
 gnomAD v4
7g.24706270_24706282dupCA2580615863GSDMEc.1085_1097dup (p.Leu367GlyfsTer?)
c.593_605dup (p.Leu203GlyfsTer?)
 ClinVar
7g.24706271T>ACA367047020GSDMEc.1096A>T (p.Ser366Cys)
c.604A>T (p.Ser202Cys)
7g.24706271T>CCA367047021GSDMEc.1096A>G (p.Ser366Gly)
c.604A>G (p.Ser202Gly)
7g.24706271T>GCA367047022GSDMEc.1096A>C (p.Ser366Arg)
c.604A>C (p.Ser202Arg)
7g.24706272G>ACA454019426GSDMEc.1095C>T (p.Cys365=)
c.603C>T (p.Cys201=)
7g.24706272G>CCA367047023GSDMEc.1095C>G (p.Cys365Trp)
c.603C>G (p.Cys201Trp)
7g.24706272G>TCA367047024GSDMEc.1095C>A (p.Cys365Ter)
c.603C>A (p.Cys201Ter)
7g.24706274_24706438delCA2695207534GSDMEc.991-60_1095del
c.499-60_603del
7g.24706273C>ACA367047025GSDMEc.1094G>T (p.Cys365Phe)
c.602G>T (p.Cys201Phe)
7g.24706273C=CA1695103610GSDMEc.1094G= (p.Cys365=)
c.602G= (p.Cys201=)
7g.24706273C>GCA367047026GSDMEc.1094G>C (p.Cys365Ser)
c.602G>C (p.Cys201Ser)
7g.24706273C>TCA4191411GSDMEc.1094G>A (p.Cys365Tyr)
c.602G>A (p.Cys201Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706274A=CA1695103613GSDMEc.1093T= (p.Cys365=)
c.601T= (p.Cys201=)
7g.24706274A>CCA367047028GSDMEc.1093T>G (p.Cys365Gly)
c.601T>G (p.Cys201Gly)
 dbSNP
7g.24706274A>GCA4191412GSDMEc.1093T>C (p.Cys365Arg)
c.601T>C (p.Cys201Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706274A>TCA367047027GSDMEc.1093T>A (p.Cys365Ser)
c.601T>A (p.Cys201Ser)
7g.24706275C>ACA454019427GSDMEc.1092G>T (p.Gly364=)
c.600G>T (p.Gly200=)
7g.24706275C=CA1695103632GSDMEc.1092G= (p.Gly364=)
c.600G= (p.Gly200=)
7g.24706275C>GCA454019428GSDMEc.1092G>C (p.Gly364=)
c.600G>C (p.Gly200=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.24706275C>TCA454019429GSDMEc.1092G>A (p.Gly364=)
c.600G>A (p.Gly200=)
 dbSNP gnomAD v4
7g.24706276C>ACA367047029GSDMEc.1091G>T (p.Gly364Val)
c.599G>T (p.Gly200Val)
7g.24706276C>GCA367047030GSDMEc.1091G>C (p.Gly364Ala)
c.599G>C (p.Gly200Ala)
7g.24706276C>TCA367047031GSDMEc.1091G>A (p.Gly364Glu)
c.599G>A (p.Gly200Glu)
7g.24706277C>ACA367047032GSDMEc.1090G>T (p.Gly364Trp)
c.598G>T (p.Gly200Trp)
7g.24706277C>GCA367047033GSDMEc.1090G>C (p.Gly364Arg)
c.598G>C (p.Gly200Arg)
7g.24706277C>TCA367047034GSDMEc.1090G>A (p.Gly364Arg)
c.598G>A (p.Gly200Arg)
7g.24706278C>ACA454019430GSDMEc.1089G>T (p.Val363=)
c.597G>T (p.Val199=)
7g.24706278C=CA1695103638GSDMEc.1089G= (p.Val363=)
c.597G= (p.Val199=)
7g.24706278C>GCA454019431GSDMEc.1089G>C (p.Val363=)
c.597G>C (p.Val199=)
7g.24706278C>TCA454019432GSDMEc.1089G>A (p.Val363=)
c.597G>A (p.Val199=)
 dbSNP gnomAD v2 gnomAD v4
7g.24706278_24706279insTCA2682080229GSDMEc.1088_1089insA (p.Cys365ValfsTer?)
c.596_597insA (p.Cys201ValfsTer?)
 gnomAD v4
7g.24706279A>CCA367047035GSDMEc.1088T>G (p.Val363Gly)
c.596T>G (p.Val199Gly)
7g.24706279A>GCA367047036GSDMEc.1088T>C (p.Val363Ala)
c.596T>C (p.Val199Ala)
 gnomAD v4
7g.24706279A>TCA367047037GSDMEc.1088T>A (p.Val363Glu)
c.596T>A (p.Val199Glu)
7g.24706280C>ACA367047038GSDMEc.1087G>T (p.Val363Leu)
c.595G>T (p.Val199Leu)
7g.24706280C=CA1695103644GSDMEc.1087G= (p.Val363=)
c.595G= (p.Val199=)
7g.24706280C>GCA367047039GSDMEc.1087G>C (p.Val363Leu)
c.595G>C (p.Val199Leu)
7g.24706280C>TCA155341550GSDMEc.1087G>A (p.Val363Met)
c.595G>A (p.Val199Met)
 dbSNP gnomAD v4
7g.24706281C>ACA454019433GSDMEc.1086G>T (p.Leu362=)
c.594G>T (p.Leu198=)
7g.24706281C>GCA454019435GSDMEc.1086G>C (p.Leu362=)
c.594G>C (p.Leu198=)
7g.24706281C>TCA454019434GSDMEc.1086G>A (p.Leu362=)
c.594G>A (p.Leu198=)
7g.24706282A>CCA367047042GSDMEc.1085T>G (p.Leu362Arg)
c.593T>G (p.Leu198Arg)
7g.24706282A>GCA367047041GSDMEc.1085T>C (p.Leu362Pro)
c.593T>C (p.Leu198Pro)
 gnomAD v4
7g.24706282A>TCA367047040GSDMEc.1085T>A (p.Leu362Gln)
c.593T>A (p.Leu198Gln)
7g.24706283G>ACA454019436GSDMEc.1084C>T (p.Leu362=)
c.592C>T (p.Leu198=)
7g.24706283G>CCA367047043GSDMEc.1084C>G (p.Leu362Val)
c.592C>G (p.Leu198Val)
7g.24706283G>TCA367047044GSDMEc.1084C>A (p.Leu362Met)
c.592C>A (p.Leu198Met)
7g.24706284C>ACA367047045GSDMEc.1083G>T (p.Gln361His)
c.591G>T (p.Gln197His)
7g.24706284C=CA1695103647GSDMEc.1083G= (p.Gln361=)
c.591G= (p.Gln197=)
7g.24706284C>GCA367047046GSDMEc.1083G>C (p.Gln361His)
c.591G>C (p.Gln197His)
 dbSNP gnomAD v2 gnomAD v4
7g.24706284C>TCA454019437GSDMEc.1083G>A (p.Gln361=)
c.591G>A (p.Gln197=)
 COSMIC

Number of alleles fetched