Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched