Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.42688934C>ACA443836742GHRc.181C>A (p.Arg61=)
c.115C>A (p.Arg39=)
c.137-5983C>A (n.137-5983C>A)
c.202C>A (p.Arg68=)
c.136C>A (p.Arg46=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42688934C=CA1542276731GHRc.181C= (p.Arg61=)
c.115C= (p.Arg39=)
c.137-5983C= (n.137-5983C=)
c.202C= (p.Arg68=)
c.136C= (p.Arg46=)
5g.42688934C>GCA3254347GHRc.181C>G (p.Arg61Gly)
c.115C>G (p.Arg39Gly)
c.137-5983C>G (n.137-5983C>G)
c.202C>G (p.Arg68Gly)
c.136C>G (p.Arg46Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42688934C>TCA119791GHRc.181C>T (p.Arg61Ter)
c.115C>T (p.Arg39Ter)
c.137-5983C>T (n.137-5983C>T)
c.202C>T (p.Arg68Ter)
c.136C>T (p.Arg46Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688935G>ACA3254348GHRc.182G>A (p.Arg61Gln)
c.116G>A (p.Arg39Gln)
c.137-5982G>A (n.137-5982G>A)
c.203G>A (p.Arg68Gln)
c.137G>A (p.Arg46Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.42688935G>CCA359694694GHRc.182G>C (p.Arg61Pro)
c.116G>C (p.Arg39Pro)
c.137-5982G>C (n.137-5982G>C)
c.203G>C (p.Arg68Pro)
c.137G>C (p.Arg46Pro)
5g.42688935G=CA1542276739GHRc.182G= (p.Arg61=)
c.116G= (p.Arg39=)
c.137-5982G= (n.137-5982G=)
c.203G= (p.Arg68=)
c.137G= (p.Arg46=)
5g.42688935G>TCA3254349GHRc.182G>T (p.Arg61Leu)
c.116G>T (p.Arg39Leu)
c.137-5982G>T (n.137-5982G>T)
c.203G>T (p.Arg68Leu)
c.137G>T (p.Arg46Leu)
 dbSNP ExAC
5g.42688936A=CA1542276750GHRc.183A= (p.Arg61=)
c.117A= (p.Arg39=)
c.137-5981A= (n.137-5981A=)
c.204A= (p.Arg68=)
c.138A= (p.Arg46=)
5g.42688936A>CCA443836764GHRc.183A>C (p.Arg61=)
c.117A>C (p.Arg39=)
c.137-5981A>C (n.137-5981A>C)
c.204A>C (p.Arg68=)
c.138A>C (p.Arg46=)
5g.42688936A>GCA443836768GHRc.183A>G (p.Arg61=)
c.117A>G (p.Arg39=)
c.137-5981A>G (n.137-5981A>G)
c.204A>G (p.Arg68=)
c.138A>G (p.Arg46=)
5g.42688936A>TCA443836771GHRc.183A>T (p.Arg61=)
c.117A>T (p.Arg39=)
c.137-5981A>T (n.137-5981A>T)
c.204A>T (p.Arg68=)
c.138A>T (p.Arg46=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42688937G>ACA119798GHRc.184G>A (p.Glu62Lys)
c.118G>A (p.Glu40Lys)
c.137-5980G>A (n.137-5980G>A)
c.205G>A (p.Glu69Lys)
c.139G>A (p.Glu47Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688937G>CCA359694696GHRc.184G>C (p.Glu62Gln)
c.118G>C (p.Glu40Gln)
c.137-5980G>C (n.137-5980G>C)
c.205G>C (p.Glu69Gln)
c.139G>C (p.Glu47Gln)
5g.42688937G=CA1542276752GHRc.184G= (p.Glu62=)
c.118G= (p.Glu40=)
c.137-5980G= (n.137-5980G=)
c.205G= (p.Glu69=)
c.139G= (p.Glu47=)
5g.42688937G>TCA359694698GHRc.184G>T (p.Glu62Ter)
c.118G>T (p.Glu40Ter)
c.137-5980G>T (n.137-5980G>T)
c.205G>T (p.Glu69Ter)
c.139G>T (p.Glu47Ter)
5g.42688938A>CCA359694704GHRc.185A>C (p.Glu62Ala)
c.119A>C (p.Glu40Ala)
c.137-5979A>C (n.137-5979A>C)
c.206A>C (p.Glu69Ala)
c.140A>C (p.Glu47Ala)
5g.42688938A>GCA359694700GHRc.185A>G (p.Glu62Gly)
c.119A>G (p.Glu40Gly)
c.137-5979A>G (n.137-5979A>G)
c.206A>G (p.Glu69Gly)
c.140A>G (p.Glu47Gly)
5g.42688938A>TCA359694702GHRc.185A>T (p.Glu62Val)
c.119A>T (p.Glu40Val)
c.137-5979A>T (n.137-5979A>T)
c.206A>T (p.Glu69Val)
c.140A>T (p.Glu47Val)
5g.42688939G>ACA443836794GHRc.186G>A (p.Glu62=)
c.120G>A (p.Glu40=)
c.137-5978G>A (n.137-5978G>A)
c.207G>A (p.Glu69=)
c.141G>A (p.Glu47=)
5g.42688939G>CCA359694706GHRc.186G>C (p.Glu62Asp)
c.120G>C (p.Glu40Asp)
c.137-5978G>C (n.137-5978G>C)
c.207G>C (p.Glu69Asp)
c.141G>C (p.Glu47Asp)
5g.42688939G>TCA359694707GHRc.186G>T (p.Glu62Asp)
c.120G>T (p.Glu40Asp)
c.137-5978G>T (n.137-5978G>T)
c.207G>T (p.Glu69Asp)
c.141G>T (p.Glu47Asp)
 gnomAD v4
5g.42688940A>CCA359694708GHRc.187A>C (p.Thr63Pro)
c.121A>C (p.Thr41Pro)
c.137-5977A>C (n.137-5977A>C)
c.208A>C (p.Thr70Pro)
c.142A>C (p.Thr48Pro)
5g.42688940A>GCA359694710GHRc.187A>G (p.Thr63Ala)
c.121A>G (p.Thr41Ala)
c.137-5977A>G (n.137-5977A>G)
c.208A>G (p.Thr70Ala)
c.142A>G (p.Thr48Ala)
5g.42688940A>TCA359694711GHRc.187A>T (p.Thr63Ser)
c.121A>T (p.Thr41Ser)
c.137-5977A>T (n.137-5977A>T)
c.208A>T (p.Thr70Ser)
c.142A>T (p.Thr48Ser)
5g.42688941C>ACA359694714GHRc.188C>A (p.Thr63Asn)
c.122C>A (p.Thr41Asn)
c.137-5976C>A (n.137-5976C>A)
c.209C>A (p.Thr70Asn)
c.143C>A (p.Thr48Asn)
5g.42688941C>GCA359694717GHRc.188C>G (p.Thr63Ser)
c.122C>G (p.Thr41Ser)
c.137-5976C>G (n.137-5976C>G)
c.209C>G (p.Thr70Ser)
c.143C>G (p.Thr48Ser)
 gnomAD v4
5g.42688941C>TCA359694716GHRc.188C>T (p.Thr63Ile)
c.122C>T (p.Thr41Ile)
c.137-5976C>T (n.137-5976C>T)
c.209C>T (p.Thr70Ile)
c.143C>T (p.Thr48Ile)
5g.42688941_42688943delinsCTTCA1542276758GHRc.188_190delinsCTT (p.Thr63=)
c.122_124delinsCTT (p.Thr41=)
c.137-5976_137-5974delinsCTT (n.137-5976_137-5974delinsCTT)
c.209_211delinsCTT (p.Thr70=)
c.143_145delinsCTT (p.Thr48=)
5g.42688942T>ACA443836820GHRc.189T>A (p.Thr63=)
c.123T>A (p.Thr41=)
c.137-5975T>A (n.137-5975T>A)
c.210T>A (p.Thr70=)
c.144T>A (p.Thr48=)
 dbSNP gnomAD v4
5g.42688942T>CCA443836816GHRc.189T>C (p.Thr63=)
c.123T>C (p.Thr41=)
c.137-5975T>C (n.137-5975T>C)
c.210T>C (p.Thr70=)
c.144T>C (p.Thr48=)
 ClinVar
5g.42688942T>GCA443836813GHRc.189T>G (p.Thr63=)
c.123T>G (p.Thr41=)
c.137-5975T>G (n.137-5975T>G)
c.210T>G (p.Thr70=)
c.144T>G (p.Thr48=)
5g.42688946delCA2673723498GHRc.193del (p.Ser65HisfsTer15)
c.127del (p.Ser43HisfsTer15)
c.137-5971del (n.137-5971del)
c.214del (p.Ser72HisfsTer15)
c.148del (p.Ser50HisfsTer15)
 gnomAD v4
5g.42688945_42688946delCA558917094GHRc.192_193del (p.Ser65MetfsTer6)
c.126_127del (p.Ser43MetfsTer6)
c.137-5972_137-5971del (n.137-5972_137-5971del)
c.213_214del (p.Ser72MetfsTer6)
c.147_148del (p.Ser50MetfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42688943T>ACA359694720GHRc.190T>A (p.Phe64Ile)
c.124T>A (p.Phe42Ile)
c.137-5974T>A (n.137-5974T>A)
c.211T>A (p.Phe71Ile)
c.145T>A (p.Phe49Ile)
5g.42688943T>CCA359694721GHRc.190T>C (p.Phe64Leu)
c.124T>C (p.Phe42Leu)
c.137-5974T>C (n.137-5974T>C)
c.211T>C (p.Phe71Leu)
c.145T>C (p.Phe49Leu)
 gnomAD v4
5g.42688943T>GCA359694722GHRc.190T>G (p.Phe64Val)
c.124T>G (p.Phe42Val)
c.137-5974T>G (n.137-5974T>G)
c.211T>G (p.Phe71Val)
c.145T>G (p.Phe49Val)
 dbSNP
5g.42688943T=CA1542276765GHRc.190T= (p.Phe64=)
c.124T= (p.Phe42=)
c.137-5974T= (n.137-5974T=)
c.211T= (p.Phe71=)
c.145T= (p.Phe49=)
5g.42688944T>ACA359694724GHRc.191T>A (p.Phe64Tyr)
c.125T>A (p.Phe42Tyr)
c.137-5973T>A (n.137-5973T>A)
c.212T>A (p.Phe71Tyr)
c.146T>A (p.Phe49Tyr)
5g.42688944T>CCA359694726GHRc.191T>C (p.Phe64Ser)
c.125T>C (p.Phe42Ser)
c.137-5973T>C (n.137-5973T>C)
c.212T>C (p.Phe71Ser)
c.146T>C (p.Phe49Ser)
5g.42688944T>GCA359694727GHRc.191T>G (p.Phe64Cys)
c.125T>G (p.Phe42Cys)
c.137-5973T>G (n.137-5973T>G)
c.212T>G (p.Phe71Cys)
c.146T>G (p.Phe49Cys)
5g.42688945T>ACA359694730GHRc.192T>A (p.Phe64Leu)
c.126T>A (p.Phe42Leu)
c.137-5972T>A (n.137-5972T>A)
c.213T>A (p.Phe71Leu)
c.147T>A (p.Phe49Leu)
5g.42688945T>CCA443837533GHRc.192T>C (p.Phe64=)
c.126T>C (p.Phe42=)
c.137-5972T>C (n.137-5972T>C)
c.213T>C (p.Phe71=)
c.147T>C (p.Phe49=)
5g.42688945T>GCA359694731GHRc.192T>G (p.Phe64Leu)
c.126T>G (p.Phe42Leu)
c.137-5972T>G (n.137-5972T>G)
c.213T>G (p.Phe71Leu)
c.147T>G (p.Phe49Leu)
5g.42688946T>ACA359694735GHRc.193T>A (p.Ser65Thr)
c.127T>A (p.Ser43Thr)
c.137-5971T>A (n.137-5971T>A)
c.214T>A (p.Ser72Thr)
c.148T>A (p.Ser50Thr)
 gnomAD v4
5g.42688946T>CCA359694736GHRc.193T>C (p.Ser65Pro)
c.127T>C (p.Ser43Pro)
c.137-5971T>C (n.137-5971T>C)
c.214T>C (p.Ser72Pro)
c.148T>C (p.Ser50Pro)
 gnomAD v4
5g.42688946T>GCA359694738GHRc.193T>G (p.Ser65Ala)
c.127T>G (p.Ser43Ala)
c.137-5971T>G (n.137-5971T>G)
c.214T>G (p.Ser72Ala)
c.148T>G (p.Ser50Ala)
5g.42688947C>ACA359694741GHRc.194C>A (p.Ser65Ter)
c.128C>A (p.Ser43Ter)
c.137-5970C>A (n.137-5970C>A)
c.215C>A (p.Ser72Ter)
c.149C>A (p.Ser50Ter)
5g.42688947C>GCA359694742GHRc.194C>G (p.Ser65Ter)
c.128C>G (p.Ser43Ter)
c.137-5970C>G (n.137-5970C>G)
c.215C>G (p.Ser72Ter)
c.149C>G (p.Ser50Ter)
5g.42688947C>TCA359694745GHRc.194C>T (p.Ser65Leu)
c.128C>T (p.Ser43Leu)
c.137-5970C>T (n.137-5970C>T)
c.215C>T (p.Ser72Leu)
c.149C>T (p.Ser50Leu)

Number of alleles fetched