Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.24706173_24706177dupCA1695103382GSDMEc.1183+13_1183+17dup (n.1183+13_1183+17dup)
c.691+13_691+17dup (n.691+13_691+17dup)
c.43+13_43+17dup (n.43+13_43+17dup)
 dbSNP
7g.24706173_24706177delCA2682080217GSDMEc.1183+13_1183+17del (n.1183+13_1183+17del)
c.691+13_691+17del (n.691+13_691+17del)
c.43+13_43+17del (n.43+13_43+17del)
 gnomAD v4
7g.24706174_24706181delCA2682080221GSDMEc.1183+6_1183+13del (n.1183+6_1183+13del)
c.691+6_691+13del (n.691+6_691+13del)
c.43+6_43+13del (n.43+6_43+13del)
 gnomAD v4
7g.24706175T>ACA135154GSDMEc.1183+9A>T (n.1183+9A>T)
c.691+9A>T (n.691+9A>T)
c.43+9A>T (n.43+9A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.24706175T>CCA2682080223GSDMEc.1183+9A>G (n.1183+9A>G)
c.691+9A>G (n.691+9A>G)
c.43+9A>G (n.43+9A>G)
 gnomAD v4
7g.24706175T=CA1695103390GSDMEc.1183+9A= (n.1183+9A=)
c.691+9A= (n.691+9A=)
c.43+9A= (n.43+9A=)
7g.24706176C>TCA2682080224GSDMEc.1183+8G>A (n.1183+8G>A)
c.691+8G>A (n.691+8G>A)
c.43+8G>A (n.43+8G>A)
 gnomAD v4
7g.24706179C=CA1695103401GSDMEc.1183+5G= (n.1183+5G=)
c.691+5G= (n.691+5G=)
c.43+5G= (n.43+5G=)
7g.24706179C>TCA4191390GSDMEc.1183+5G>A (n.1183+5G>A)
c.691+5G>A (n.691+5G>A)
c.43+5G>A (n.43+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.24706180T>CCA913189965GSDMEc.1183+4A>G (n.1183+4A>G)
c.691+4A>G (n.691+4A>G)
c.43+4A>G (n.43+4A>G)
 ClinVar dbSNP gnomAD v4
7g.24706180T=CA1695103403GSDMEc.1183+4A= (n.1183+4A=)
c.691+4A= (n.691+4A=)
c.43+4A= (n.43+4A=)
7g.24706181T>ACA2580076959GSDMEc.1183+3A>T (n.1183+3A>T)
c.691+3A>T (n.691+3A>T)
c.43+3A>T (n.43+3A>T)
 ClinVar
7g.24706182A>CCA367046829GSDMEc.1183+2T>G (n.1183+2T>G)
c.691+2T>G (n.691+2T>G)
c.43+2T>G (n.43+2T>G)
7g.24706182A>GCA367046830GSDMEc.1183+2T>C (n.1183+2T>C)
c.691+2T>C (n.691+2T>C)
c.43+2T>C (n.43+2T>C)
7g.24706182A>TCA367046828GSDMEc.1183+2T>A (n.1183+2T>A)
c.691+2T>A (n.691+2T>A)
c.43+2T>A (n.43+2T>A)
7g.24706183C>ACA367046831GSDMEc.1183+1G>T (n.1183+1G>T)
c.691+1G>T (n.691+1G>T)
c.43+1G>T (n.43+1G>T)
7g.24706183C=CA1695103411GSDMEc.1183+1G= (n.1183+1G=)
c.691+1G= (n.691+1G=)
c.43+1G= (n.43+1G=)
7g.24706183C>GCA367046832GSDMEc.1183+1G>C (n.1183+1G>C)
c.691+1G>C (n.691+1G>C)
c.43+1G>C (n.43+1G>C)
7g.24706183C>TCA367046833GSDMEc.1183+1G>A (n.1183+1G>A)
c.691+1G>A (n.691+1G>A)
c.43+1G>A (n.43+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
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)

Number of alleles fetched