Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.236482398_236482403delinsCACCCACA2486933392EDARADDc.397_402delinsCACCCA (p.His133=)
c.367_372delinsCACCCA (p.His123=)
c.331_336delinsCACCCA (p.His111=)
c.236-9339_236-9334delinsCACCCA (n.236-9339_236-9334delinsCACCCA)
1g.236482401_236482405delCA1470076EDARADDc.400_404del (p.Pro134GlyfsTer16)
c.370_374del (p.Pro124GlyfsTer16)
c.334_338del (p.Pro112GlyfsTer16)
c.236-9336_236-9332del (n.236-9336_236-9332del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236482402_236482408delinsCAACGGTCA2486933396EDARADDc.401_407delinsCAACGGT (p.Pro134=)
c.371_377delinsCAACGGT (p.Pro124=)
c.335_341delinsCAACGGT (p.Pro112=)
c.236-9335_236-9329delinsCAACGGT (n.236-9335_236-9329delinsCAACGGT)
1g.236482403A>CCA424029858EDARADDc.402A>C (p.Pro134=)
c.372A>C (p.Pro124=)
c.336A>C (p.Pro112=)
c.236-9334A>C (n.236-9334A>C)
1g.236482403A>GCA424029859EDARADDc.402A>G (p.Pro134=)
c.372A>G (p.Pro124=)
c.336A>G (p.Pro112=)
c.236-9334A>G (n.236-9334A>G)
1g.236482403A>TCA424029860EDARADDc.402A>T (p.Pro134=)
c.372A>T (p.Pro124=)
c.336A>T (p.Pro112=)
c.236-9334A>T (n.236-9334A>T)
1g.236482403_236482408delCA019402EDARADDc.402_407del (p.Thr135_Val136del)
c.372_377del (p.Thr125_Val126del)
c.336_341del (p.Thr113_Val114del)
c.236-9334_236-9329del (n.236-9334_236-9329del)
 ClinVar dbSNP
1g.236482403_236482408delinsAACGGTCA1144229240EDARADDc.402_407delinsAACGGT (p.Pro134=)
c.372_377delinsAACGGT (p.Pro124=)
c.336_341delinsAACGGT (p.Pro112=)
c.236-9334_236-9329delinsAACGGT (n.236-9334_236-9329delinsAACGGT)
1g.236482404A>CCA345353847EDARADDc.403A>C (p.Thr135Pro)
c.373A>C (p.Thr125Pro)
c.337A>C (p.Thr113Pro)
c.236-9333A>C (n.236-9333A>C)
1g.236482404A>GCA345353849EDARADDc.403A>G (p.Thr135Ala)
c.373A>G (p.Thr125Ala)
c.337A>G (p.Thr113Ala)
c.236-9333A>G (n.236-9333A>G)
1g.236482404A>TCA345353851EDARADDc.403A>T (p.Thr135Ser)
c.373A>T (p.Thr125Ser)
c.337A>T (p.Thr113Ser)
c.236-9333A>T (n.236-9333A>T)
1g.236482405C>ACA345353853EDARADDc.404C>A (p.Thr135Lys)
c.374C>A (p.Thr125Lys)
c.338C>A (p.Thr113Lys)
c.236-9332C>A (n.236-9332C>A)
 COSMIC
1g.236482405C=CA2486933397EDARADDc.404C= (p.Thr135=)
c.374C= (p.Thr125=)
c.338C= (p.Thr113=)
c.236-9332C= (n.236-9332C=)
1g.236482405C>GCA345353854EDARADDc.404C>G (p.Thr135Arg)
c.374C>G (p.Thr125Arg)
c.338C>G (p.Thr113Arg)
c.236-9332C>G (n.236-9332C>G)
1g.236482405C>TCA1470078EDARADDc.404C>T (p.Thr135Met)
c.374C>T (p.Thr125Met)
c.338C>T (p.Thr113Met)
c.236-9332C>T (n.236-9332C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236482406G>ACA1470079EDARADDc.405G>A (p.Thr135=)
c.375G>A (p.Thr125=)
c.339G>A (p.Thr113=)
c.236-9331G>A (n.236-9331G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236482406G>CCA424029862EDARADDc.405G>C (p.Thr135=)
c.375G>C (p.Thr125=)
c.339G>C (p.Thr113=)
c.236-9331G>C (n.236-9331G>C)
1g.236482406G=CA2486933398EDARADDc.405G= (p.Thr135=)
c.375G= (p.Thr125=)
c.339G= (p.Thr113=)
c.236-9331G= (n.236-9331G=)
1g.236482406G>TCA424029861EDARADDc.405G>T (p.Thr135=)
c.375G>T (p.Thr125=)
c.339G>T (p.Thr113=)
c.236-9331G>T (n.236-9331G>T)
 dbSNP
1g.236482407G>ACA345353855EDARADDc.406G>A (p.Val136Met)
c.376G>A (p.Val126Met)
c.340G>A (p.Val114Met)
c.236-9330G>A (n.236-9330G>A)
 gnomAD v4
1g.236482407G>CCA345353857EDARADDc.406G>C (p.Val136Leu)
c.376G>C (p.Val126Leu)
c.340G>C (p.Val114Leu)
c.236-9330G>C (n.236-9330G>C)
1g.236482407G>TCA345353859EDARADDc.406G>T (p.Val136Leu)
c.376G>T (p.Val126Leu)
c.340G>T (p.Val114Leu)
c.236-9330G>T (n.236-9330G>T)
1g.236482408T>ACA345353861EDARADDc.407T>A (p.Val136Glu)
c.377T>A (p.Val126Glu)
c.341T>A (p.Val114Glu)
c.236-9329T>A (n.236-9329T>A)
1g.236482408T>CCA345353863EDARADDc.407T>C (p.Val136Ala)
c.377T>C (p.Val126Ala)
c.341T>C (p.Val114Ala)
c.236-9329T>C (n.236-9329T>C)
1g.236482408T>GCA345353866EDARADDc.407T>G (p.Val136Gly)
c.377T>G (p.Val126Gly)
c.341T>G (p.Val114Gly)
c.236-9329T>G (n.236-9329T>G)
1g.236482409G>ACA424029865EDARADDc.408G>A (p.Val136=)
c.378G>A (p.Val126=)
c.342G>A (p.Val114=)
c.236-9328G>A (n.236-9328G>A)
1g.236482409G>CCA424029864EDARADDc.408G>C (p.Val136=)
c.378G>C (p.Val126=)
c.342G>C (p.Val114=)
c.236-9328G>C (n.236-9328G>C)
1g.236482409G>TCA424029863EDARADDc.408G>T (p.Val136=)
c.378G>T (p.Val126=)
c.342G>T (p.Val114=)
c.236-9328G>T (n.236-9328G>T)
1g.236482410A>CCA345353869EDARADDc.409A>C (p.Lys137Gln)
c.379A>C (p.Lys127Gln)
c.343A>C (p.Lys115Gln)
c.236-9327A>C (n.236-9327A>C)
1g.236482410A>GCA345353870EDARADDc.409A>G (p.Lys137Glu)
c.379A>G (p.Lys127Glu)
c.343A>G (p.Lys115Glu)
c.236-9327A>G (n.236-9327A>G)
1g.236482410A>TCA345353868EDARADDc.409A>T (p.Lys137Ter)
c.379A>T (p.Lys127Ter)
c.343A>T (p.Lys115Ter)
c.236-9327A>T (n.236-9327A>T)
1g.236482411A>CCA345353871EDARADDc.410A>C (p.Lys137Thr)
c.380A>C (p.Lys127Thr)
c.344A>C (p.Lys115Thr)
c.236-9326A>C (n.236-9326A>C)
1g.236482411A>GCA345353874EDARADDc.410A>G (p.Lys137Arg)
c.380A>G (p.Lys127Arg)
c.344A>G (p.Lys115Arg)
c.236-9326A>G (n.236-9326A>G)
1g.236482411A>TCA345353872EDARADDc.410A>T (p.Lys137Ile)
c.380A>T (p.Lys127Ile)
c.344A>T (p.Lys115Ile)
c.236-9326A>T (n.236-9326A>T)
1g.236482412A>CCA345353876EDARADDc.411A>C (p.Lys137Asn)
c.381A>C (p.Lys127Asn)
c.345A>C (p.Lys115Asn)
c.236-9325A>C (n.236-9325A>C)
1g.236482412A>GCA424029866EDARADDc.411A>G (p.Lys137=)
c.381A>G (p.Lys127=)
c.345A>G (p.Lys115=)
c.236-9325A>G (n.236-9325A>G)
 gnomAD v4
1g.236482412A>TCA345353877EDARADDc.411A>T (p.Lys137Asn)
c.381A>T (p.Lys127Asn)
c.345A>T (p.Lys115Asn)
c.236-9325A>T (n.236-9325A>T)
1g.236482413A=CA2486933399EDARADDc.412A= (p.Asn138=)
c.382A= (p.Asn128=)
c.346A= (p.Asn116=)
c.236-9324A= (n.236-9324A=)
1g.236482413A>CCA345353879EDARADDc.412A>C (p.Asn138His)
c.382A>C (p.Asn128His)
c.346A>C (p.Asn116His)
c.236-9324A>C (n.236-9324A>C)
1g.236482413A>GCA345353882EDARADDc.412A>G (p.Asn138Asp)
c.382A>G (p.Asn128Asp)
c.346A>G (p.Asn116Asp)
c.236-9324A>G (n.236-9324A>G)
 dbSNP gnomAD v4
1g.236482413A>TCA345353884EDARADDc.412A>T (p.Asn138Tyr)
c.382A>T (p.Asn128Tyr)
c.346A>T (p.Asn116Tyr)
c.236-9324A>T (n.236-9324A>T)
1g.236482414A=CA2486933400EDARADDc.413A= (p.Asn138=)
c.383A= (p.Asn128=)
c.347A= (p.Asn116=)
c.236-9323A= (n.236-9323A=)
1g.236482414A>CCA345353885EDARADDc.413A>C (p.Asn138Thr)
c.383A>C (p.Asn128Thr)
c.347A>C (p.Asn116Thr)
c.236-9323A>C (n.236-9323A>C)
1g.236482414A>GCA345353886EDARADDc.413A>G (p.Asn138Ser)
c.383A>G (p.Asn128Ser)
c.347A>G (p.Asn116Ser)
c.236-9323A>G (n.236-9323A>G)
1g.236482414A>TCA39702037EDARADDc.413A>T (p.Asn138Ile)
c.383A>T (p.Asn128Ile)
c.347A>T (p.Asn116Ile)
c.236-9323A>T (n.236-9323A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.236482415C>ACA345353887EDARADDc.414C>A (p.Asn138Lys)
c.384C>A (p.Asn128Lys)
c.348C>A (p.Asn116Lys)
c.236-9322C>A (n.236-9322C>A)
1g.236482415C>GCA345353889EDARADDc.414C>G (p.Asn138Lys)
c.384C>G (p.Asn128Lys)
c.348C>G (p.Asn116Lys)
c.236-9322C>G (n.236-9322C>G)
1g.236482415C>TCA424029867EDARADDc.414C>T (p.Asn138=)
c.384C>T (p.Asn128=)
c.348C>T (p.Asn116=)
c.236-9322C>T (n.236-9322C>T)
 gnomAD v4
1g.236482416T>ACA345353891EDARADDc.415T>A (p.Trp139Arg)
c.385T>A (p.Trp129Arg)
c.349T>A (p.Trp117Arg)
c.236-9321T>A (n.236-9321T>A)
1g.236482416T>CCA345353892EDARADDc.415T>C (p.Trp139Arg)
c.385T>C (p.Trp129Arg)
c.349T>C (p.Trp117Arg)
c.236-9321T>C (n.236-9321T>C)
 COSMIC

Number of alleles fetched