Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
5g.42688948A=CA1542276780GHRc.195A= (p.Ser65=)
c.129A= (p.Ser43=)
c.137-5969A= (n.137-5969A=)
c.216A= (p.Ser72=)
c.150A= (p.Ser50=)
5g.42688948A>CCA443837545GHRc.195A>C (p.Ser65=)
c.129A>C (p.Ser43=)
c.137-5969A>C (n.137-5969A>C)
c.216A>C (p.Ser72=)
c.150A>C (p.Ser50=)
5g.42688948A>GCA245069GHRc.195A>G (p.Ser65=)
c.129A>G (p.Ser43=)
c.137-5969A>G (n.137-5969A>G)
c.216A>G (p.Ser72=)
c.150A>G (p.Ser50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688948A>TCA3254350GHRc.195A>T (p.Ser65=)
c.129A>T (p.Ser43=)
c.137-5969A>T (n.137-5969A>T)
c.216A>T (p.Ser72=)
c.150A>T (p.Ser50=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688949T>ACA359694749GHRc.196T>A (p.Cys66Ser)
c.130T>A (p.Cys44Ser)
c.137-5968T>A (n.137-5968T>A)
c.217T>A (p.Cys73Ser)
c.151T>A (p.Cys51Ser)
5g.42688949T>CCA359694751GHRc.196T>C (p.Cys66Arg)
c.130T>C (p.Cys44Arg)
c.137-5968T>C (n.137-5968T>C)
c.217T>C (p.Cys73Arg)
c.151T>C (p.Cys51Arg)
5g.42688949T>GCA359694754GHRc.196T>G (p.Cys66Gly)
c.130T>G (p.Cys44Gly)
c.137-5968T>G (n.137-5968T>G)
c.217T>G (p.Cys73Gly)
c.151T>G (p.Cys51Gly)
5g.42688950G>ACA359694757GHRc.197G>A (p.Cys66Tyr)
c.131G>A (p.Cys44Tyr)
c.137-5967G>A (n.137-5967G>A)
c.218G>A (p.Cys73Tyr)
c.152G>A (p.Cys51Tyr)
5g.42688950G>CCA359694759GHRc.197G>C (p.Cys66Ser)
c.131G>C (p.Cys44Ser)
c.137-5967G>C (n.137-5967G>C)
c.218G>C (p.Cys73Ser)
c.152G>C (p.Cys51Ser)
5g.42688950G>TCA359694760GHRc.197G>T (p.Cys66Phe)
c.131G>T (p.Cys44Phe)
c.137-5967G>T (n.137-5967G>T)
c.218G>T (p.Cys73Phe)
c.152G>T (p.Cys51Phe)
 gnomAD v4
5g.42688951C>ACA359694763GHRc.198C>A (p.Cys66Ter)
c.132C>A (p.Cys44Ter)
c.137-5966C>A (n.137-5966C>A)
c.219C>A (p.Cys73Ter)
c.153C>A (p.Cys51Ter)
5g.42688951C>GCA359694764GHRc.198C>G (p.Cys66Trp)
c.132C>G (p.Cys44Trp)
c.137-5966C>G (n.137-5966C>G)
c.219C>G (p.Cys73Trp)
c.153C>G (p.Cys51Trp)
5g.42688951C>TCA443837546GHRc.198C>T (p.Cys66=)
c.132C>T (p.Cys44=)
c.137-5966C>T (n.137-5966C>T)
c.219C>T (p.Cys73=)
c.153C>T (p.Cys51=)
 ClinVar gnomAD v4
5g.42688952C>ACA359694767GHRc.199C>A (p.His67Asn)
c.133C>A (p.His45Asn)
c.137-5965C>A (n.137-5965C>A)
c.220C>A (p.His74Asn)
c.154C>A (p.His52Asn)
5g.42688952C>GCA359694768GHRc.199C>G (p.His67Asp)
c.133C>G (p.His45Asp)
c.137-5965C>G (n.137-5965C>G)
c.220C>G (p.His74Asp)
c.154C>G (p.His52Asp)
5g.42688952C>TCA359694770GHRc.199C>T (p.His67Tyr)
c.133C>T (p.His45Tyr)
c.137-5965C>T (n.137-5965C>T)
c.220C>T (p.His74Tyr)
c.154C>T (p.His52Tyr)
 gnomAD v4
5g.42688953A=CA1542276806GHRc.200A= (p.His67=)
c.134A= (p.His45=)
c.137-5964A= (n.137-5964A=)
c.221A= (p.His74=)
c.155A= (p.His52=)
5g.42688953A>CCA359694776GHRc.200A>C (p.His67Pro)
c.134A>C (p.His45Pro)
c.137-5964A>C (n.137-5964A>C)
c.221A>C (p.His74Pro)
c.155A>C (p.His52Pro)
5g.42688953A>GCA359694774GHRc.200A>G (p.His67Arg)
c.134A>G (p.His45Arg)
c.137-5964A>G (n.137-5964A>G)
c.221A>G (p.His74Arg)
c.155A>G (p.His52Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.42688953A>TCA359694772GHRc.200A>T (p.His67Leu)
c.134A>T (p.His45Leu)
c.137-5964A>T (n.137-5964A>T)
c.221A>T (p.His74Leu)
c.155A>T (p.His52Leu)
5g.42688954C>ACA359694778GHRc.201C>A (p.His67Gln)
c.135C>A (p.His45Gln)
c.137-5963C>A (n.137-5963C>A)
c.222C>A (p.His74Gln)
c.156C>A (p.His52Gln)
5g.42688954C>GCA359694779GHRc.201C>G (p.His67Gln)
c.135C>G (p.His45Gln)
c.137-5963C>G (n.137-5963C>G)
c.222C>G (p.His74Gln)
c.156C>G (p.His52Gln)
5g.42688954C>TCA443837547GHRc.201C>T (p.His67=)
c.135C>T (p.His45=)
c.137-5963C>T (n.137-5963C>T)
c.222C>T (p.His74=)
c.156C>T (p.His52=)
 dbSNP
5g.42688955T>ACA359694781GHRc.202T>A (p.Trp68Arg)
c.136T>A (p.Trp46Arg)
c.137-5962T>A (n.137-5962T>A)
c.223T>A (p.Trp75Arg)
c.157T>A (p.Trp53Arg)
 gnomAD v4
5g.42688955T>CCA359694782GHRc.202T>C (p.Trp68Arg)
c.136T>C (p.Trp46Arg)
c.137-5962T>C (n.137-5962T>C)
c.223T>C (p.Trp75Arg)
c.157T>C (p.Trp53Arg)
5g.42688955T>GCA359694784GHRc.202T>G (p.Trp68Gly)
c.136T>G (p.Trp46Gly)
c.137-5962T>G (n.137-5962T>G)
c.223T>G (p.Trp75Gly)
c.157T>G (p.Trp53Gly)
5g.42688956G>ACA359694785GHRc.203G>A (p.Trp68Ter)
c.137G>A (p.Trp46Ter)
c.137-5961G>A (n.137-5961G>A)
c.224G>A (p.Trp75Ter)
c.158G>A (p.Trp53Ter)
 ClinVar COSMIC
5g.42688956G>CCA359694787GHRc.203G>C (p.Trp68Ser)
c.137G>C (p.Trp46Ser)
c.137-5961G>C (n.137-5961G>C)
c.224G>C (p.Trp75Ser)
c.158G>C (p.Trp53Ser)
5g.42688956G>TCA359694790GHRc.203G>T (p.Trp68Leu)
c.137G>T (p.Trp46Leu)
c.137-5961G>T (n.137-5961G>T)
c.224G>T (p.Trp75Leu)
c.158G>T (p.Trp53Leu)
5g.42688957G>ACA359694792GHRc.204G>A (p.Trp68Ter)
c.138G>A (p.Trp46Ter)
c.137-5960G>A (n.137-5960G>A)
c.225G>A (p.Trp75Ter)
c.159G>A (p.Trp53Ter)
5g.42688957G>CCA359694793GHRc.204G>C (p.Trp68Cys)
c.138G>C (p.Trp46Cys)
c.137-5960G>C (n.137-5960G>C)
c.225G>C (p.Trp75Cys)
c.159G>C (p.Trp53Cys)
5g.42688957G>TCA359694795GHRc.204G>T (p.Trp68Cys)
c.138G>T (p.Trp46Cys)
c.137-5960G>T (n.137-5960G>T)
c.225G>T (p.Trp75Cys)
c.159G>T (p.Trp53Cys)
5g.42688958A>CCA359694797GHRc.205A>C (p.Thr69Pro)
c.139A>C (p.Thr47Pro)
c.137-5959A>C (n.137-5959A>C)
c.226A>C (p.Thr76Pro)
c.160A>C (p.Thr54Pro)
5g.42688958A>GCA359694799GHRc.205A>G (p.Thr69Ala)
c.139A>G (p.Thr47Ala)
c.137-5959A>G (n.137-5959A>G)
c.226A>G (p.Thr76Ala)
c.160A>G (p.Thr54Ala)
 gnomAD v4
5g.42688958A>TCA359694801GHRc.205A>T (p.Thr69Ser)
c.139A>T (p.Thr47Ser)
c.137-5959A>T (n.137-5959A>T)
c.226A>T (p.Thr76Ser)
c.160A>T (p.Thr54Ser)
5g.42688959C>ACA359694804GHRc.206C>A (p.Thr69Lys)
c.140C>A (p.Thr47Lys)
c.137-5958C>A (n.137-5958C>A)
c.227C>A (p.Thr76Lys)
c.161C>A (p.Thr54Lys)
5g.42688959C=CA1542276812GHRc.206C= (p.Thr69=)
c.140C= (p.Thr47=)
c.137-5958C= (n.137-5958C=)
c.227C= (p.Thr76=)
c.161C= (p.Thr54=)
5g.42688959C>GCA359694806GHRc.206C>G (p.Thr69Arg)
c.140C>G (p.Thr47Arg)
c.137-5958C>G (n.137-5958C>G)
c.227C>G (p.Thr76Arg)
c.161C>G (p.Thr54Arg)
5g.42688959C>TCA3254351GHRc.206C>T (p.Thr69Ile)
c.140C>T (p.Thr47Ile)
c.137-5958C>T (n.137-5958C>T)
c.227C>T (p.Thr76Ile)
c.161C>T (p.Thr54Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688960A=CA1542276833GHRc.207A= (p.Thr69=)
c.141A= (p.Thr47=)
c.137-5957A= (n.137-5957A=)
c.228A= (p.Thr76=)
c.162A= (p.Thr54=)
5g.42688960A>CCA443837563GHRc.207A>C (p.Thr69=)
c.141A>C (p.Thr47=)
c.137-5957A>C (n.137-5957A>C)
c.228A>C (p.Thr76=)
c.162A>C (p.Thr54=)
5g.42688960A>GCA443837565GHRc.207A>G (p.Thr69=)
c.141A>G (p.Thr47=)
c.137-5957A>G (n.137-5957A>G)
c.228A>G (p.Thr76=)
c.162A>G (p.Thr54=)
 ClinVar dbSNP
5g.42688960A>TCA443837568GHRc.207A>T (p.Thr69=)
c.141A>T (p.Thr47=)
c.137-5957A>T (n.137-5957A>T)
c.228A>T (p.Thr76=)
c.162A>T (p.Thr54=)
5g.42688961G>ACA359694808GHRc.208G>A (p.Asp70Asn)
c.142G>A (p.Asp48Asn)
c.137-5956G>A (n.137-5956G>A)
c.229G>A (p.Asp77Asn)
c.163G>A (p.Asp55Asn)
5g.42688961G>CCA359694810GHRc.208G>C (p.Asp70His)
c.142G>C (p.Asp48His)
c.137-5956G>C (n.137-5956G>C)
c.229G>C (p.Asp77His)
c.163G>C (p.Asp55His)
5g.42688961G>TCA359694812GHRc.208G>T (p.Asp70Tyr)
c.142G>T (p.Asp48Tyr)
c.137-5956G>T (n.137-5956G>T)
c.229G>T (p.Asp77Tyr)
c.163G>T (p.Asp55Tyr)
5g.42688962A=CA1542276837GHRc.209A= (p.Asp70=)
c.143A= (p.Asp48=)
c.137-5955A= (n.137-5955A=)
c.230A= (p.Asp77=)
c.164A= (p.Asp55=)
5g.42688962A>CCA3254352GHRc.209A>C (p.Asp70Ala)
c.143A>C (p.Asp48Ala)
c.137-5955A>C (n.137-5955A>C)
c.230A>C (p.Asp77Ala)
c.164A>C (p.Asp55Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688962A>GCA359694813GHRc.209A>G (p.Asp70Gly)
c.143A>G (p.Asp48Gly)
c.137-5955A>G (n.137-5955A>G)
c.230A>G (p.Asp77Gly)
c.164A>G (p.Asp55Gly)
5g.42688962A>TCA359694815GHRc.209A>T (p.Asp70Val)
c.143A>T (p.Asp48Val)
c.137-5955A>T (n.137-5955A>T)
c.230A>T (p.Asp77Val)
c.164A>T (p.Asp55Val)
5g.42688963T>ACA359694816GHRc.210T>A (p.Asp70Glu)
c.144T>A (p.Asp48Glu)
c.137-5954T>A (n.137-5954T>A)
c.231T>A (p.Asp77Glu)
c.165T>A (p.Asp55Glu)
5g.42688963T>CCA443837577GHRc.210T>C (p.Asp70=)
c.144T>C (p.Asp48=)
c.137-5954T>C (n.137-5954T>C)
c.231T>C (p.Asp77=)
c.165T>C (p.Asp55=)
 gnomAD v4
5g.42688963T>GCA359694818GHRc.210T>G (p.Asp70Glu)
c.144T>G (p.Asp48Glu)
c.137-5954T>G (n.137-5954T>G)
c.231T>G (p.Asp77Glu)
c.165T>G (p.Asp55Glu)
5g.42688964G>ACA359694821GHRc.211G>A (p.Glu71Lys)
c.145G>A (p.Glu49Lys)
c.137-5953G>A (n.137-5953G>A)
c.232G>A (p.Glu78Lys)
c.166G>A (p.Glu56Lys)
 gnomAD v4 COSMIC
5g.42688964G>CCA359694822GHRc.211G>C (p.Glu71Gln)
c.145G>C (p.Glu49Gln)
c.137-5953G>C (n.137-5953G>C)
c.232G>C (p.Glu78Gln)
c.166G>C (p.Glu56Gln)
5g.42688964G>TCA359694824GHRc.211G>T (p.Glu71Ter)
c.145G>T (p.Glu49Ter)
c.137-5953G>T (n.137-5953G>T)
c.232G>T (p.Glu78Ter)
c.166G>T (p.Glu56Ter)
5g.42688965A>CCA359694827GHRc.212A>C (p.Glu71Ala)
c.146A>C (p.Glu49Ala)
c.137-5952A>C (n.137-5952A>C)
c.233A>C (p.Glu78Ala)
c.167A>C (p.Glu56Ala)
5g.42688965A>GCA359694828GHRc.212A>G (p.Glu71Gly)
c.146A>G (p.Glu49Gly)
c.137-5952A>G (n.137-5952A>G)
c.233A>G (p.Glu78Gly)
c.167A>G (p.Glu56Gly)
5g.42688965A>TCA359694830GHRc.212A>T (p.Glu71Val)
c.146A>T (p.Glu49Val)
c.137-5952A>T (n.137-5952A>T)
c.233A>T (p.Glu78Val)
c.167A>T (p.Glu56Val)
5g.42688966G>ACA443837587GHRc.213G>A (p.Glu71=)
c.147G>A (p.Glu49=)
c.137-5951G>A (n.137-5951G>A)
c.234G>A (p.Glu78=)
c.168G>A (p.Glu56=)
 ClinVar gnomAD v4
5g.42688966G>CCA359694833GHRc.213G>C (p.Glu71Asp)
c.147G>C (p.Glu49Asp)
c.137-5951G>C (n.137-5951G>C)
c.234G>C (p.Glu78Asp)
c.168G>C (p.Glu56Asp)
 dbSNP gnomAD v2 gnomAD v4
5g.42688966G=CA1542276843GHRc.213G= (p.Glu71=)
c.147G= (p.Glu49=)
c.137-5951G= (n.137-5951G=)
c.234G= (p.Glu78=)
c.168G= (p.Glu56=)
5g.42688966G>TCA359694834GHRc.213G>T (p.Glu71Asp)
c.147G>T (p.Glu49Asp)
c.137-5951G>T (n.137-5951G>T)
c.234G>T (p.Glu78Asp)
c.168G>T (p.Glu56Asp)
5g.42688967G>ACA359694837GHRc.214G>A (p.Val72Ile)
c.148G>A (p.Val50Ile)
c.137-5950G>A (n.137-5950G>A)
c.235G>A (p.Val79Ile)
c.169G>A (p.Val57Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.42688967G>CCA359694838GHRc.214G>C (p.Val72Leu)
c.148G>C (p.Val50Leu)
c.137-5950G>C (n.137-5950G>C)
c.235G>C (p.Val79Leu)
c.169G>C (p.Val57Leu)
5g.42688967G=CA1542276849GHRc.214G= (p.Val72=)
c.148G= (p.Val50=)
c.137-5950G= (n.137-5950G=)
c.235G= (p.Val79=)
c.169G= (p.Val57=)
5g.42688967G>TCA3254353GHRc.214G>T (p.Val72Phe)
c.148G>T (p.Val50Phe)
c.137-5950G>T (n.137-5950G>T)
c.235G>T (p.Val79Phe)
c.169G>T (p.Val57Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42688968T>ACA359694842GHRc.215T>A (p.Val72Asp)
c.149T>A (p.Val50Asp)
c.137-5949T>A (n.137-5949T>A)
c.236T>A (p.Val79Asp)
c.170T>A (p.Val57Asp)
5g.42688968T>CCA359694843GHRc.215T>C (p.Val72Ala)
c.149T>C (p.Val50Ala)
c.137-5949T>C (n.137-5949T>C)
c.236T>C (p.Val79Ala)
c.170T>C (p.Val57Ala)
5g.42688968T>GCA359694845GHRc.215T>G (p.Val72Gly)
c.149T>G (p.Val50Gly)
c.137-5949T>G (n.137-5949T>G)
c.236T>G (p.Val79Gly)
c.170T>G (p.Val57Gly)
5g.42688969T>ACA443837597GHRc.216T>A (p.Val72=)
c.150T>A (p.Val50=)
c.137-5948T>A (n.137-5948T>A)
c.237T>A (p.Val79=)
c.171T>A (p.Val57=)
5g.42688969T>CCA443837599GHRc.216T>C (p.Val72=)
c.150T>C (p.Val50=)
c.137-5948T>C (n.137-5948T>C)
c.237T>C (p.Val79=)
c.171T>C (p.Val57=)
5g.42688969T>GCA443837601GHRc.216T>G (p.Val72=)
c.150T>G (p.Val50=)
c.137-5948T>G (n.137-5948T>G)
c.237T>G (p.Val79=)
c.171T>G (p.Val57=)
5g.42688970C>ACA359694851GHRc.217C>A (p.His73Asn)
c.151C>A (p.His51Asn)
c.137-5947C>A (n.137-5947C>A)
c.238C>A (p.His80Asn)
c.172C>A (p.His58Asn)
 COSMIC
5g.42688970C>GCA359694848GHRc.217C>G (p.His73Asp)
c.151C>G (p.His51Asp)
c.137-5947C>G (n.137-5947C>G)
c.238C>G (p.His80Asp)
c.172C>G (p.His58Asp)
5g.42688970C>TCA359694849GHRc.217C>T (p.His73Tyr)
c.151C>T (p.His51Tyr)
c.137-5947C>T (n.137-5947C>T)
c.238C>T (p.His80Tyr)
c.172C>T (p.His58Tyr)
5g.42688971A>CCA359694854GHRc.218A>C (p.His73Pro)
c.152A>C (p.His51Pro)
c.137-5946A>C (n.137-5946A>C)
c.239A>C (p.His80Pro)
c.173A>C (p.His58Pro)
5g.42688971A>GCA359694855GHRc.218A>G (p.His73Arg)
c.152A>G (p.His51Arg)
c.137-5946A>G (n.137-5946A>G)
c.239A>G (p.His80Arg)
c.173A>G (p.His58Arg)
 dbSNP COSMIC
5g.42688971A>TCA359694856GHRc.218A>T (p.His73Leu)
c.152A>T (p.His51Leu)
c.137-5946A>T (n.137-5946A>T)
c.239A>T (p.His80Leu)
c.173A>T (p.His58Leu)
5g.42688972T>ACA359694858GHRc.219T>A (p.His73Gln)
c.153T>A (p.His51Gln)
c.137-5945T>A (n.137-5945T>A)
c.240T>A (p.His80Gln)
c.174T>A (p.His58Gln)
5g.42688972T>CCA443837610GHRc.219T>C (p.His73=)
c.153T>C (p.His51=)
c.137-5945T>C (n.137-5945T>C)
c.240T>C (p.His80=)
c.174T>C (p.His58=)
5g.42688972T>GCA359694860GHRc.219T>G (p.His73Gln)
c.153T>G (p.His51Gln)
c.137-5945T>G (n.137-5945T>G)
c.240T>G (p.His80Gln)
c.174T>G (p.His58Gln)
5g.42688973C>ACA359694863GHRc.220C>A (p.His74Asn)
c.154C>A (p.His52Asn)
c.137-5944C>A (n.137-5944C>A)
c.241C>A (p.His81Asn)
c.175C>A (p.His59Asn)
5g.42688973C=CA1542276855GHRc.220C= (p.His74=)
c.154C= (p.His52=)
c.137-5944C= (n.137-5944C=)
c.241C= (p.His81=)
c.175C= (p.His59=)
5g.42688973C>GCA359694866GHRc.220C>G (p.His74Asp)
c.154C>G (p.His52Asp)
c.137-5944C>G (n.137-5944C>G)
c.241C>G (p.His81Asp)
c.175C>G (p.His59Asp)
 dbSNP COSMIC
5g.42688973C>TCA359694865GHRc.220C>T (p.His74Tyr)
c.154C>T (p.His52Tyr)
c.137-5944C>T (n.137-5944C>T)
c.241C>T (p.His81Tyr)
c.175C>T (p.His59Tyr)
 COSMIC
5g.42688974A=CA1542276858GHRc.221A= (p.His74=)
c.155A= (p.His52=)
c.137-5943A= (n.137-5943A=)
c.242A= (p.His81=)
c.176A= (p.His59=)
5g.42688974A>CCA359694867GHRc.221A>C (p.His74Pro)
c.155A>C (p.His52Pro)
c.137-5943A>C (n.137-5943A>C)
c.242A>C (p.His81Pro)
c.176A>C (p.His59Pro)
5g.42688974A>GCA359694868GHRc.221A>G (p.His74Arg)
c.155A>G (p.His52Arg)
c.137-5943A>G (n.137-5943A>G)
c.242A>G (p.His81Arg)
c.176A>G (p.His59Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.42688974A>TCA359694869GHRc.221A>T (p.His74Leu)
c.155A>T (p.His52Leu)
c.137-5943A>T (n.137-5943A>T)
c.242A>T (p.His81Leu)
c.176A>T (p.His59Leu)
5g.42688975T>ACA359694870GHRc.222T>A (p.His74Gln)
c.156T>A (p.His52Gln)
c.137-5942T>A (n.137-5942T>A)
c.243T>A (p.His81Gln)
c.177T>A (p.His59Gln)
5g.42688975T>CCA443837618GHRc.222T>C (p.His74=)
c.156T>C (p.His52=)
c.137-5942T>C (n.137-5942T>C)
c.243T>C (p.His81=)
c.177T>C (p.His59=)
 gnomAD v4
5g.42688975T>GCA359694871GHRc.222T>G (p.His74Gln)
c.156T>G (p.His52Gln)
c.137-5942T>G (n.137-5942T>G)
c.243T>G (p.His81Gln)
c.177T>G (p.His59Gln)
5g.42688976G>ACA359694872GHRc.223G>A (p.Gly75Ser)
c.157G>A (p.Gly53Ser)
c.137-5941G>A (n.137-5941G>A)
c.244G>A (p.Gly82Ser)
c.178G>A (p.Gly60Ser)
5g.42688976G>CCA359694873GHRc.223G>C (p.Gly75Arg)
c.157G>C (p.Gly53Arg)
c.137-5941G>C (n.137-5941G>C)
c.244G>C (p.Gly82Arg)
c.178G>C (p.Gly60Arg)
5g.42688976G>TCA359694874GHRc.223G>T (p.Gly75Cys)
c.157G>T (p.Gly53Cys)
c.137-5941G>T (n.137-5941G>T)
c.244G>T (p.Gly82Cys)
c.178G>T (p.Gly60Cys)
5g.42688977G>ACA359694875GHRc.224G>A (p.Gly75Asp)
c.158G>A (p.Gly53Asp)
c.137-5940G>A (n.137-5940G>A)
c.245G>A (p.Gly82Asp)
c.179G>A (p.Gly60Asp)
 gnomAD v4
5g.42688977G>CCA359694876GHRc.224G>C (p.Gly75Ala)
c.158G>C (p.Gly53Ala)
c.137-5940G>C (n.137-5940G>C)
c.245G>C (p.Gly82Ala)
c.179G>C (p.Gly60Ala)
 gnomAD v4
5g.42688977G>TCA359694877GHRc.224G>T (p.Gly75Val)
c.158G>T (p.Gly53Val)
c.137-5940G>T (n.137-5940G>T)
c.245G>T (p.Gly82Val)
c.179G>T (p.Gly60Val)
5g.42688978T>ACA443837625GHRc.225T>A (p.Gly75=)
c.159T>A (p.Gly53=)
c.137-5939T>A (n.137-5939T>A)
c.246T>A (p.Gly82=)
c.180T>A (p.Gly60=)
5g.42688978T>CCA443837626GHRc.225T>C (p.Gly75=)
c.159T>C (p.Gly53=)
c.137-5939T>C (n.137-5939T>C)
c.246T>C (p.Gly82=)
c.180T>C (p.Gly60=)
5g.42688978T>GCA443837627GHRc.225T>G (p.Gly75=)
c.159T>G (p.Gly53=)
c.137-5939T>G (n.137-5939T>G)
c.246T>G (p.Gly82=)
c.180T>G (p.Gly60=)
5g.42688979A>CCA359694878GHRc.226A>C (p.Thr76Pro)
c.160A>C (p.Thr54Pro)
c.137-5938A>C (n.137-5938A>C)
c.247A>C (p.Thr83Pro)
c.181A>C (p.Thr61Pro)
5g.42688979A>GCA359694880GHRc.226A>G (p.Thr76Ala)
c.160A>G (p.Thr54Ala)
c.137-5938A>G (n.137-5938A>G)
c.247A>G (p.Thr83Ala)
c.181A>G (p.Thr61Ala)
5g.42688979A>TCA359694879GHRc.226A>T (p.Thr76Ser)
c.160A>T (p.Thr54Ser)
c.137-5938A>T (n.137-5938A>T)
c.247A>T (p.Thr83Ser)
c.181A>T (p.Thr61Ser)
5g.42688979_42688980delinsACCA1542276861GHRc.226_227delinsAC (p.Thr76=)
c.160_161delinsAC (p.Thr54=)
c.137-5938_137-5937delinsAC (n.137-5938_137-5937delinsAC)
c.247_248delinsAC (p.Thr83=)
c.181_182delinsAC (p.Thr61=)
5g.42688980delCA1542276865GHRc.227del (p.Thr76LysfsTer4)
c.161del (p.Thr54LysfsTer4)
c.137-5937del (n.137-5937del)
c.248del (p.Thr83LysfsTer4)
c.182del (p.Thr61LysfsTer4)
 dbSNP
5g.42688980C>ACA359694881GHRc.227C>A (p.Thr76Lys)
c.161C>A (p.Thr54Lys)
c.137-5937C>A (n.137-5937C>A)
c.248C>A (p.Thr83Lys)
c.182C>A (p.Thr61Lys)
 gnomAD v4
5g.42688980C>GCA359694883GHRc.227C>G (p.Thr76Arg)
c.161C>G (p.Thr54Arg)
c.137-5937C>G (n.137-5937C>G)
c.248C>G (p.Thr83Arg)
c.182C>G (p.Thr61Arg)
5g.42688980C>TCA359694882GHRc.227C>T (p.Thr76Ile)
c.161C>T (p.Thr54Ile)
c.137-5937C>T (n.137-5937C>T)
c.248C>T (p.Thr83Ile)
c.182C>T (p.Thr61Ile)
5g.42688981A=CA1542276868GHRc.228A= (p.Thr76=)
c.162A= (p.Thr54=)
c.137-5936A= (n.137-5936A=)
c.249A= (p.Thr83=)
c.183A= (p.Thr61=)
5g.42688981A>CCA443837633GHRc.228A>C (p.Thr76=)
c.162A>C (p.Thr54=)
c.137-5936A>C (n.137-5936A>C)
c.249A>C (p.Thr83=)
c.183A>C (p.Thr61=)
5g.42688981A>GCA3254354GHRc.228A>G (p.Thr76=)
c.162A>G (p.Thr54=)
c.137-5936A>G (n.137-5936A>G)
c.249A>G (p.Thr83=)
c.183A>G (p.Thr61=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42688981A>TCA443837636GHRc.228A>T (p.Thr76=)
c.162A>T (p.Thr54=)
c.137-5936A>T (n.137-5936A>T)
c.249A>T (p.Thr83=)
c.183A>T (p.Thr61=)
5g.42688982A>CCA359694885GHRc.229A>C (p.Lys77Gln)
c.163A>C (p.Lys55Gln)
c.137-5935A>C (n.137-5935A>C)
c.250A>C (p.Lys84Gln)
c.184A>C (p.Lys62Gln)
5g.42688982A>GCA359694884GHRc.229A>G (p.Lys77Glu)
c.163A>G (p.Lys55Glu)
c.137-5935A>G (n.137-5935A>G)
c.250A>G (p.Lys84Glu)
c.184A>G (p.Lys62Glu)
5g.42688982A>TCA359694886GHRc.229A>T (p.Lys77Ter)
c.163A>T (p.Lys55Ter)
c.137-5935A>T (n.137-5935A>T)
c.250A>T (p.Lys84Ter)
c.184A>T (p.Lys62Ter)
5g.42688983A>CCA359694887GHRc.230A>C (p.Lys77Thr)
c.164A>C (p.Lys55Thr)
c.137-5934A>C (n.137-5934A>C)
c.251A>C (p.Lys84Thr)
c.185A>C (p.Lys62Thr)
5g.42688983A>GCA359694889GHRc.230A>G (p.Lys77Arg)
c.164A>G (p.Lys55Arg)
c.137-5934A>G (n.137-5934A>G)
c.251A>G (p.Lys84Arg)
c.185A>G (p.Lys62Arg)
5g.42688983A>TCA359694888GHRc.230A>T (p.Lys77Met)
c.164A>T (p.Lys55Met)
c.137-5934A>T (n.137-5934A>T)
c.251A>T (p.Lys84Met)
c.185A>T (p.Lys62Met)
5g.42688984G>ACA443837648GHRc.231G>A (p.Lys77=)
c.165G>A (p.Lys55=)
c.137-5933G>A (n.137-5933G>A)
c.252G>A (p.Lys84=)
c.186G>A (p.Lys62=)
5g.42688984G>CCA359694890GHRc.231G>C (p.Lys77Asn)
c.165G>C (p.Lys55Asn)
c.137-5933G>C (n.137-5933G>C)
c.252G>C (p.Lys84Asn)
c.186G>C (p.Lys62Asn)
5g.42688984G>TCA359694891GHRc.231G>T (p.Lys77Asn)
c.165G>T (p.Lys55Asn)
c.137-5933G>T (n.137-5933G>T)
c.252G>T (p.Lys84Asn)
c.186G>T (p.Lys62Asn)
 COSMIC
5g.42688985A>CCA359694892GHRc.232A>C (p.Asn78His)
c.166A>C (p.Asn56His)
c.137-5932A>C (n.137-5932A>C)
c.253A>C (p.Asn85His)
c.187A>C (p.Asn63His)
5g.42688985A>GCA359694893GHRc.232A>G (p.Asn78Asp)
c.166A>G (p.Asn56Asp)
c.137-5932A>G (n.137-5932A>G)
c.253A>G (p.Asn85Asp)
c.187A>G (p.Asn63Asp)
5g.42688985A>TCA359694894GHRc.232A>T (p.Asn78Tyr)
c.166A>T (p.Asn56Tyr)
c.137-5932A>T (n.137-5932A>T)
c.253A>T (p.Asn85Tyr)
c.187A>T (p.Asn63Tyr)
5g.42688986A>CCA359694895GHRc.233A>C (p.Asn78Thr)
c.167A>C (p.Asn56Thr)
c.137-5931A>C (n.137-5931A>C)
c.254A>C (p.Asn85Thr)
c.188A>C (p.Asn63Thr)
5g.42688986A>GCA359694896GHRc.233A>G (p.Asn78Ser)
c.167A>G (p.Asn56Ser)
c.137-5931A>G (n.137-5931A>G)
c.254A>G (p.Asn85Ser)
c.188A>G (p.Asn63Ser)
5g.42688986A>TCA359694897GHRc.233A>T (p.Asn78Ile)
c.167A>T (p.Asn56Ile)
c.137-5931A>T (n.137-5931A>T)
c.254A>T (p.Asn85Ile)
c.188A>T (p.Asn63Ile)
5g.42688987C>ACA359694898GHRc.234C>A (p.Asn78Lys)
c.168C>A (p.Asn56Lys)
c.137-5930C>A (n.137-5930C>A)
c.255C>A (p.Asn85Lys)
c.189C>A (p.Asn63Lys)
5g.42688987C>GCA359694899GHRc.234C>G (p.Asn78Lys)
c.168C>G (p.Asn56Lys)
c.137-5930C>G (n.137-5930C>G)
c.255C>G (p.Asn85Lys)
c.189C>G (p.Asn63Lys)
5g.42688987C>TCA443837659GHRc.234C>T (p.Asn78=)
c.168C>T (p.Asn56=)
c.137-5930C>T (n.137-5930C>T)
c.255C>T (p.Asn85=)
c.189C>T (p.Asn63=)
5g.42688988C>ACA359694900GHRc.235C>A (p.Leu79Ile)
c.169C>A (p.Leu57Ile)
c.137-5929C>A (n.137-5929C>A)
c.256C>A (p.Leu86Ile)
c.190C>A (p.Leu64Ile)
5g.42688988C=CA1542276871GHRc.235C= (p.Leu79=)
c.169C= (p.Leu57=)
c.137-5929C= (n.137-5929C=)
c.256C= (p.Leu86=)
c.190C= (p.Leu64=)
5g.42688988C>GCA359694901GHRc.235C>G (p.Leu79Val)
c.169C>G (p.Leu57Val)
c.137-5929C>G (n.137-5929C>G)
c.256C>G (p.Leu86Val)
c.190C>G (p.Leu64Val)
5g.42688988C>TCA443837664GHRc.235C>T (p.Leu79=)
c.169C>T (p.Leu57=)
c.137-5929C>T (n.137-5929C>T)
c.256C>T (p.Leu86=)
c.190C>T (p.Leu64=)
 dbSNP gnomAD v4
5g.42688989T>ACA359694904GHRc.236T>A (p.Leu79Gln)
c.170T>A (p.Leu57Gln)
c.137-5928T>A (n.137-5928T>A)
c.257T>A (p.Leu86Gln)
c.191T>A (p.Leu64Gln)
5g.42688989T>CCA359694903GHRc.236T>C (p.Leu79Pro)
c.170T>C (p.Leu57Pro)
c.137-5928T>C (n.137-5928T>C)
c.257T>C (p.Leu86Pro)
c.191T>C (p.Leu64Pro)
 dbSNP gnomAD v3 gnomAD v4
5g.42688989T>GCA359694902GHRc.236T>G (p.Leu79Arg)
c.170T>G (p.Leu57Arg)
c.137-5928T>G (n.137-5928T>G)
c.257T>G (p.Leu86Arg)
c.191T>G (p.Leu64Arg)
5g.42688989T=CA1542276880GHRc.236T= (p.Leu79=)
c.170T= (p.Leu57=)
c.137-5928T= (n.137-5928T=)
c.257T= (p.Leu86=)
c.191T= (p.Leu64=)
5g.42688990A>CCA443837670GHRc.237A>C (p.Leu79=)
c.171A>C (p.Leu57=)
c.137-5927A>C (n.137-5927A>C)
c.258A>C (p.Leu86=)
c.192A>C (p.Leu64=)
5g.42688990A>GCA443837672GHRc.237A>G (p.Leu79=)
c.171A>G (p.Leu57=)
c.137-5927A>G (n.137-5927A>G)
c.258A>G (p.Leu86=)
c.192A>G (p.Leu64=)
5g.42688990A>TCA443837673GHRc.237A>T (p.Leu79=)
c.171A>T (p.Leu57=)
c.137-5927A>T (n.137-5927A>T)
c.258A>T (p.Leu86=)
c.192A>T (p.Leu64=)
5g.42688991G>ACA359694905GHRc.238G>A (p.Gly80Arg)
c.172G>A (p.Gly58Arg)
c.137-5926G>A (n.137-5926G>A)
c.259G>A (p.Gly87Arg)
c.193G>A (p.Gly65Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.42688991G>CCA359694906GHRc.238G>C (p.Gly80Arg)
c.172G>C (p.Gly58Arg)
c.137-5926G>C (n.137-5926G>C)
c.259G>C (p.Gly87Arg)
c.193G>C (p.Gly65Arg)
5g.42688991G=CA1542276885GHRc.238G= (p.Gly80=)
c.172G= (p.Gly58=)
c.137-5926G= (n.137-5926G=)
c.259G= (p.Gly87=)
c.193G= (p.Gly65=)
5g.42688991G>TCA359694907GHRc.238G>T (p.Gly80Ter)
c.172G>T (p.Gly58Ter)
c.137-5926G>T (n.137-5926G>T)
c.259G>T (p.Gly87Ter)
c.193G>T (p.Gly65Ter)
5g.42688992G>ACA359694908GHRc.239G>A (p.Gly80Glu)
c.173G>A (p.Gly58Glu)
c.137-5925G>A (n.137-5925G>A)
c.260G>A (p.Gly87Glu)
c.194G>A (p.Gly65Glu)
 gnomAD v4
5g.42688992G>CCA359694909GHRc.239G>C (p.Gly80Ala)
c.173G>C (p.Gly58Ala)
c.137-5925G>C (n.137-5925G>C)
c.260G>C (p.Gly87Ala)
c.194G>C (p.Gly65Ala)
5g.42688992G=CA1542276900GHRc.239G= (p.Gly80=)
c.173G= (p.Gly58=)
c.137-5925G= (n.137-5925G=)
c.260G= (p.Gly87=)
c.194G= (p.Gly65=)
5g.42688992G>TCA3254355GHRc.239G>T (p.Gly80Val)
c.173G>T (p.Gly58Val)
c.137-5925G>T (n.137-5925G>T)
c.260G>T (p.Gly87Val)
c.194G>T (p.Gly65Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688993A>CCA443837683GHRc.240A>C (p.Gly80=)
c.174A>C (p.Gly58=)
c.137-5924A>C (n.137-5924A>C)
c.261A>C (p.Gly87=)
c.195A>C (p.Gly65=)
5g.42688993A>GCA443837684GHRc.240A>G (p.Gly80=)
c.174A>G (p.Gly58=)
c.137-5924A>G (n.137-5924A>G)
c.261A>G (p.Gly87=)
c.195A>G (p.Gly65=)
5g.42688993A>TCA443837685GHRc.240A>T (p.Gly80=)
c.174A>T (p.Gly58=)
c.137-5924A>T (n.137-5924A>T)
c.261A>T (p.Gly87=)
c.195A>T (p.Gly65=)
 gnomAD v4
5g.42688994C>ACA359694910GHRc.241C>A (p.Pro81Thr)
c.175C>A (p.Pro59Thr)
c.137-5923C>A (n.137-5923C>A)
c.262C>A (p.Pro88Thr)
c.196C>A (p.Pro66Thr)
 gnomAD v4
5g.42688994C>GCA359694911GHRc.241C>G (p.Pro81Ala)
c.175C>G (p.Pro59Ala)
c.137-5923C>G (n.137-5923C>G)
c.262C>G (p.Pro88Ala)
c.196C>G (p.Pro66Ala)
5g.42688994C>TCA359694912GHRc.241C>T (p.Pro81Ser)
c.175C>T (p.Pro59Ser)
c.137-5923C>T (n.137-5923C>T)
c.262C>T (p.Pro88Ser)
c.196C>T (p.Pro66Ser)
5g.42688995C>ACA359694913GHRc.242C>A (p.Pro81His)
c.176C>A (p.Pro59His)
c.137-5922C>A (n.137-5922C>A)
c.263C>A (p.Pro88His)
c.197C>A (p.Pro66His)
5g.42688995C>GCA359694914GHRc.242C>G (p.Pro81Arg)
c.176C>G (p.Pro59Arg)
c.137-5922C>G (n.137-5922C>G)
c.263C>G (p.Pro88Arg)
c.197C>G (p.Pro66Arg)
5g.42688995C>TCA359694915GHRc.242C>T (p.Pro81Leu)
c.176C>T (p.Pro59Leu)
c.137-5922C>T (n.137-5922C>T)
c.263C>T (p.Pro88Leu)
c.197C>T (p.Pro66Leu)
5g.42688996C>ACA443837695GHRc.243C>A (p.Pro81=)
c.177C>A (p.Pro59=)
c.137-5921C>A (n.137-5921C>A)
c.264C>A (p.Pro88=)
c.198C>A (p.Pro66=)
5g.42688996C=CA1542276917GHRc.243C= (p.Pro81=)
c.177C= (p.Pro59=)
c.137-5921C= (n.137-5921C=)
c.264C= (p.Pro88=)
c.198C= (p.Pro66=)
5g.42688996C>GCA443837698GHRc.243C>G (p.Pro81=)
c.177C>G (p.Pro59=)
c.137-5921C>G (n.137-5921C>G)
c.264C>G (p.Pro88=)
c.198C>G (p.Pro66=)
 dbSNP gnomAD v4
5g.42688996C>TCA443837693GHRc.243C>T (p.Pro81=)
c.177C>T (p.Pro59=)
c.137-5921C>T (n.137-5921C>T)
c.264C>T (p.Pro88=)
c.198C>T (p.Pro66=)
5g.42688997A>CCA359694917GHRc.244A>C (p.Ile82Leu)
c.178A>C (p.Ile60Leu)
c.137-5920A>C (n.137-5920A>C)
c.265A>C (p.Ile89Leu)
c.199A>C (p.Ile67Leu)
5g.42688997A>GCA359694918GHRc.244A>G (p.Ile82Val)
c.178A>G (p.Ile60Val)
c.137-5920A>G (n.137-5920A>G)
c.265A>G (p.Ile89Val)
c.199A>G (p.Ile67Val)
 gnomAD v4
5g.42688997A>TCA359694916GHRc.244A>T (p.Ile82Leu)
c.178A>T (p.Ile60Leu)
c.137-5920A>T (n.137-5920A>T)
c.265A>T (p.Ile89Leu)
c.199A>T (p.Ile67Leu)
5g.42688998T>ACA359694919GHRc.245T>A (p.Ile82Lys)
c.179T>A (p.Ile60Lys)
c.137-5919T>A (n.137-5919T>A)
c.266T>A (p.Ile89Lys)
c.200T>A (p.Ile67Lys)
5g.42688998T>CCA3254356GHRc.245T>C (p.Ile82Thr)
c.179T>C (p.Ile60Thr)
c.137-5919T>C (n.137-5919T>C)
c.266T>C (p.Ile89Thr)
c.200T>C (p.Ile67Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42688998T>GCA359694920GHRc.245T>G (p.Ile82Arg)
c.179T>G (p.Ile60Arg)
c.137-5919T>G (n.137-5919T>G)
c.266T>G (p.Ile89Arg)
c.200T>G (p.Ile67Arg)
5g.42688998T=CA1542276921GHRc.245T= (p.Ile82=)
c.179T= (p.Ile60=)
c.137-5919T= (n.137-5919T=)
c.266T= (p.Ile89=)
c.200T= (p.Ile67=)
5g.42688999A>CCA443837705GHRc.246A>C (p.Ile82=)
c.180A>C (p.Ile60=)
c.137-5918A>C (n.137-5918A>C)
c.267A>C (p.Ile89=)
c.201A>C (p.Ile67=)
5g.42688999A>GCA359694921GHRc.246A>G (p.Ile82Met)
c.180A>G (p.Ile60Met)
c.137-5918A>G (n.137-5918A>G)
c.267A>G (p.Ile89Met)
c.201A>G (p.Ile67Met)
5g.42688999A>TCA443837707GHRc.246A>T (p.Ile82=)
c.180A>T (p.Ile60=)
c.137-5918A>T (n.137-5918A>T)
c.267A>T (p.Ile89=)
c.201A>T (p.Ile67=)
5g.42689000C>ACA3254357GHRc.247C>A (p.Gln83Lys)
c.181C>A (p.Gln61Lys)
c.137-5917C>A (n.137-5917C>A)
c.268C>A (p.Gln90Lys)
c.202C>A (p.Gln68Lys)
 dbSNP ExAC gnomAD v4
5g.42689000C=CA1542276926GHRc.247C= (p.Gln83=)
c.181C= (p.Gln61=)
c.137-5917C= (n.137-5917C=)
c.268C= (p.Gln90=)
c.202C= (p.Gln68=)
5g.42689000C>GCA359694922GHRc.247C>G (p.Gln83Glu)
c.181C>G (p.Gln61Glu)
c.137-5917C>G (n.137-5917C>G)
c.268C>G (p.Gln90Glu)
c.202C>G (p.Gln68Glu)
5g.42689000C>TCA359694923GHRc.247C>T (p.Gln83Ter)
c.181C>T (p.Gln61Ter)
c.137-5917C>T (n.137-5917C>T)
c.268C>T (p.Gln90Ter)
c.202C>T (p.Gln68Ter)
5g.42689001A>CCA359694924GHRc.248A>C (p.Gln83Pro)
c.182A>C (p.Gln61Pro)
c.137-5916A>C (n.137-5916A>C)
c.269A>C (p.Gln90Pro)
c.203A>C (p.Gln68Pro)
5g.42689001A>GCA359694926GHRc.248A>G (p.Gln83Arg)
c.182A>G (p.Gln61Arg)
c.137-5916A>G (n.137-5916A>G)
c.269A>G (p.Gln90Arg)
c.203A>G (p.Gln68Arg)
 COSMIC
5g.42689001A>TCA359694925GHRc.248A>T (p.Gln83Leu)
c.182A>T (p.Gln61Leu)
c.137-5916A>T (n.137-5916A>T)
c.269A>T (p.Gln90Leu)
c.203A>T (p.Gln68Leu)
5g.42689002G>ACA443837713GHRc.249G>A (p.Gln83=)
c.183G>A (p.Gln61=)
c.137-5915G>A (n.137-5915G>A)
c.270G>A (p.Gln90=)
c.204G>A (p.Gln68=)
5g.42689002G>CCA359694927GHRc.249G>C (p.Gln83His)
c.183G>C (p.Gln61His)
c.137-5915G>C (n.137-5915G>C)
c.270G>C (p.Gln90His)
c.204G>C (p.Gln68His)
5g.42689002G>TCA359694928GHRc.249G>T (p.Gln83His)
c.183G>T (p.Gln61His)
c.137-5915G>T (n.137-5915G>T)
c.270G>T (p.Gln90His)
c.204G>T (p.Gln68His)
5g.42689003C>ACA359694929GHRc.250C>A (p.Leu84Met)
c.184C>A (p.Leu62Met)
c.137-5914C>A (n.137-5914C>A)
c.271C>A (p.Leu91Met)
c.205C>A (p.Leu69Met)
5g.42689003C=CA1542276934GHRc.250C= (p.Leu84=)
c.184C= (p.Leu62=)
c.137-5914C= (n.137-5914C=)
c.271C= (p.Leu91=)
c.205C= (p.Leu69=)
5g.42689003C>GCA359694930GHRc.250C>G (p.Leu84Val)
c.184C>G (p.Leu62Val)
c.137-5914C>G (n.137-5914C>G)
c.271C>G (p.Leu91Val)
c.205C>G (p.Leu69Val)
 dbSNP gnomAD v2 gnomAD v4
5g.42689003C>TCA443837719GHRc.250C>T (p.Leu84=)
c.184C>T (p.Leu62=)
c.137-5914C>T (n.137-5914C>T)
c.271C>T (p.Leu91=)
c.205C>T (p.Leu69=)
 gnomAD v4
5g.42689004T>ACA359694931GHRc.251T>A (p.Leu84Gln)
c.185T>A (p.Leu62Gln)
c.137-5913T>A (n.137-5913T>A)
c.272T>A (p.Leu91Gln)
c.206T>A (p.Leu69Gln)
5g.42689004T>CCA359694933GHRc.251T>C (p.Leu84Pro)
c.185T>C (p.Leu62Pro)
c.137-5913T>C (n.137-5913T>C)
c.272T>C (p.Leu91Pro)
c.206T>C (p.Leu69Pro)
5g.42689004T>GCA359694932GHRc.251T>G (p.Leu84Arg)
c.185T>G (p.Leu62Arg)
c.137-5913T>G (n.137-5913T>G)
c.272T>G (p.Leu91Arg)
c.206T>G (p.Leu69Arg)
5g.42689005G>ACA443837723GHRc.252G>A (p.Leu84=)
c.186G>A (p.Leu62=)
c.137-5912G>A (n.137-5912G>A)
c.273G>A (p.Leu91=)
c.207G>A (p.Leu69=)
 dbSNP
5g.42689005G>CCA443837725GHRc.252G>C (p.Leu84=)
c.186G>C (p.Leu62=)
c.137-5912G>C (n.137-5912G>C)
c.273G>C (p.Leu91=)
c.207G>C (p.Leu69=)
5g.42689005G=CA1542276965GHRc.252G= (p.Leu84=)
c.186G= (p.Leu62=)
c.137-5912G= (n.137-5912G=)
c.273G= (p.Leu91=)
c.207G= (p.Leu69=)
5g.42689005G>TCA443837727GHRc.252G>T (p.Leu84=)
c.186G>T (p.Leu62=)
c.137-5912G>T (n.137-5912G>T)
c.273G>T (p.Leu91=)
c.207G>T (p.Leu69=)
5g.42689006T>ACA359694934GHRc.253T>A (p.Phe85Ile)
c.187T>A (p.Phe63Ile)
c.137-5911T>A (n.137-5911T>A)
c.274T>A (p.Phe92Ile)
c.208T>A (p.Phe70Ile)
5g.42689006T>CCA359694935GHRc.253T>C (p.Phe85Leu)
c.187T>C (p.Phe63Leu)
c.137-5911T>C (n.137-5911T>C)
c.274T>C (p.Phe92Leu)
c.208T>C (p.Phe70Leu)
5g.42689006T>GCA359694936GHRc.253T>G (p.Phe85Val)
c.187T>G (p.Phe63Val)
c.137-5911T>G (n.137-5911T>G)
c.274T>G (p.Phe92Val)
c.208T>G (p.Phe70Val)
5g.42689007T>ACA359694937GHRc.254T>A (p.Phe85Tyr)
c.188T>A (p.Phe63Tyr)
c.137-5910T>A (n.137-5910T>A)
c.275T>A (p.Phe92Tyr)
c.209T>A (p.Phe70Tyr)
5g.42689007T>CCA359694938GHRc.254T>C (p.Phe85Ser)
c.188T>C (p.Phe63Ser)
c.137-5910T>C (n.137-5910T>C)
c.275T>C (p.Phe92Ser)
c.209T>C (p.Phe70Ser)
5g.42689007T>GCA359694939GHRc.254T>G (p.Phe85Cys)
c.188T>G (p.Phe63Cys)
c.137-5910T>G (n.137-5910T>G)
c.275T>G (p.Phe92Cys)
c.209T>G (p.Phe70Cys)
5g.42689008C>ACA359694940GHRc.255C>A (p.Phe85Leu)
c.189C>A (p.Phe63Leu)
c.137-5909C>A (n.137-5909C>A)
c.276C>A (p.Phe92Leu)
c.210C>A (p.Phe70Leu)
5g.42689008C>GCA359694941GHRc.255C>G (p.Phe85Leu)
c.189C>G (p.Phe63Leu)
c.137-5909C>G (n.137-5909C>G)
c.276C>G (p.Phe92Leu)
c.210C>G (p.Phe70Leu)
5g.42689008C>TCA443837737GHRc.255C>T (p.Phe85=)
c.189C>T (p.Phe63=)
c.137-5909C>T (n.137-5909C>T)
c.276C>T (p.Phe92=)
c.210C>T (p.Phe70=)
 ClinVar gnomAD v4
5g.42689009T>ACA359694942GHRc.256T>A (p.Tyr86Asn)
c.190T>A (p.Tyr64Asn)
c.137-5908T>A (n.137-5908T>A)
c.277T>A (p.Tyr93Asn)
c.211T>A (p.Tyr71Asn)
5g.42689009T>CCA359694943GHRc.256T>C (p.Tyr86His)
c.190T>C (p.Tyr64His)
c.137-5908T>C (n.137-5908T>C)
c.277T>C (p.Tyr93His)
c.211T>C (p.Tyr71His)
 gnomAD v4
5g.42689009T>GCA359694944GHRc.256T>G (p.Tyr86Asp)
c.190T>G (p.Tyr64Asp)
c.137-5908T>G (n.137-5908T>G)
c.277T>G (p.Tyr93Asp)
c.211T>G (p.Tyr71Asp)
5g.42689010A>CCA359694947GHRc.257A>C (p.Tyr86Ser)
c.191A>C (p.Tyr64Ser)
c.137-5907A>C (n.137-5907A>C)
c.278A>C (p.Tyr93Ser)
c.212A>C (p.Tyr71Ser)
5g.42689010A>GCA359694946GHRc.257A>G (p.Tyr86Cys)
c.191A>G (p.Tyr64Cys)
c.137-5907A>G (n.137-5907A>G)
c.278A>G (p.Tyr93Cys)
c.212A>G (p.Tyr71Cys)
 gnomAD v4
5g.42689010A>TCA359694945GHRc.257A>T (p.Tyr86Phe)
c.191A>T (p.Tyr64Phe)
c.137-5907A>T (n.137-5907A>T)
c.278A>T (p.Tyr93Phe)
c.212A>T (p.Tyr71Phe)
5g.42689011T>ACA359694948GHRc.258T>A (p.Tyr86Ter)
c.192T>A (p.Tyr64Ter)
c.137-5906T>A (n.137-5906T>A)
c.279T>A (p.Tyr93Ter)
c.213T>A (p.Tyr71Ter)
5g.42689011T>CCA443837744GHRc.258T>C (p.Tyr86=)
c.192T>C (p.Tyr64=)
c.137-5906T>C (n.137-5906T>C)
c.279T>C (p.Tyr93=)
c.213T>C (p.Tyr71=)
5g.42689011T>GCA359694949GHRc.258T>G (p.Tyr86Ter)
c.192T>G (p.Tyr64Ter)
c.137-5906T>G (n.137-5906T>G)
c.279T>G (p.Tyr93Ter)
c.213T>G (p.Tyr71Ter)
5g.42689012A>CCA359694950GHRc.259A>C (p.Thr87Pro)
c.193A>C (p.Thr65Pro)
c.137-5905A>C (n.137-5905A>C)
c.280A>C (p.Thr94Pro)
c.214A>C (p.Thr72Pro)
5g.42689012A>GCA359694951GHRc.259A>G (p.Thr87Ala)
c.193A>G (p.Thr65Ala)
c.137-5905A>G (n.137-5905A>G)
c.280A>G (p.Thr94Ala)
c.214A>G (p.Thr72Ala)
5g.42689012A>TCA359694952GHRc.259A>T (p.Thr87Ser)
c.193A>T (p.Thr65Ser)
c.137-5905A>T (n.137-5905A>T)
c.280A>T (p.Thr94Ser)
c.214A>T (p.Thr72Ser)
5g.42689013C>ACA359694953GHRc.260C>A (p.Thr87Asn)
c.194C>A (p.Thr65Asn)
c.137-5904C>A (n.137-5904C>A)
c.281C>A (p.Thr94Asn)
c.215C>A (p.Thr72Asn)
5g.42689013C=CA1542276969GHRc.260C= (p.Thr87=)
c.194C= (p.Thr65=)
c.137-5904C= (n.137-5904C=)
c.281C= (p.Thr94=)
c.215C= (p.Thr72=)
5g.42689013C>GCA359694954GHRc.260C>G (p.Thr87Ser)
c.194C>G (p.Thr65Ser)
c.137-5904C>G (n.137-5904C>G)
c.281C>G (p.Thr94Ser)
c.215C>G (p.Thr72Ser)
5g.42689013C>TCA3254358GHRc.260C>T (p.Thr87Ile)
c.194C>T (p.Thr65Ile)
c.137-5904C>T (n.137-5904C>T)
c.281C>T (p.Thr94Ile)
c.215C>T (p.Thr72Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42689014C>ACA443837754GHRc.261C>A (p.Thr87=)
c.195C>A (p.Thr65=)
c.137-5903C>A (n.137-5903C>A)
c.282C>A (p.Thr94=)
c.216C>A (p.Thr72=)
5g.42689014C>GCA443837826GHRc.261C>G (p.Thr87=)
c.195C>G (p.Thr65=)
c.137-5903C>G (n.137-5903C>G)
c.282C>G (p.Thr94=)
c.216C>G (p.Thr72=)
5g.42689014C>TCA443837833GHRc.261C>T (p.Thr87=)
c.195C>T (p.Thr65=)
c.137-5903C>T (n.137-5903C>T)
c.282C>T (p.Thr94=)
c.216C>T (p.Thr72=)
5g.42689015A>CCA443837836GHRc.262A>C (p.Arg88=)
c.196A>C (p.Arg66=)
c.137-5902A>C (n.137-5902A>C)
c.283A>C (p.Arg95=)
c.217A>C (p.Arg73=)
5g.42689015A>GCA359694955GHRc.262A>G (p.Arg88Gly)
c.196A>G (p.Arg66Gly)
c.137-5902A>G (n.137-5902A>G)
c.283A>G (p.Arg95Gly)
c.217A>G (p.Arg73Gly)
5g.42689015A>TCA359694956GHRc.262A>T (p.Arg88Ter)
c.196A>T (p.Arg66Ter)
c.137-5902A>T (n.137-5902A>T)
c.283A>T (p.Arg95Ter)
c.217A>T (p.Arg73Ter)
5g.42689016G>ACA359694957GHRc.263G>A (p.Arg88Lys)
c.197G>A (p.Arg66Lys)
c.137-5901G>A (n.137-5901G>A)
c.284G>A (p.Arg95Lys)
c.218G>A (p.Arg73Lys)
 gnomAD v4
5g.42689016G>CCA3254359GHRc.263G>C (p.Arg88Thr)
c.197G>C (p.Arg66Thr)
c.137-5901G>C (n.137-5901G>C)
c.284G>C (p.Arg95Thr)
c.218G>C (p.Arg73Thr)
 dbSNP ExAC gnomAD v2
5g.42689016G=CA1542276972GHRc.263G= (p.Arg88=)
c.197G= (p.Arg66=)
c.137-5901G= (n.137-5901G=)
c.284G= (p.Arg95=)
c.218G= (p.Arg73=)
5g.42689016G>TCA359694958GHRc.263G>T (p.Arg88Ile)
c.197G>T (p.Arg66Ile)
c.137-5901G>T (n.137-5901G>T)
c.284G>T (p.Arg95Ile)
c.218G>T (p.Arg73Ile)
5g.42689017A>CCA359694959GHRc.264A>C (p.Arg88Ser)
c.198A>C (p.Arg66Ser)
c.137-5900A>C (n.137-5900A>C)
c.285A>C (p.Arg95Ser)
c.219A>C (p.Arg73Ser)
 gnomAD v4
5g.42689017A>GCA443837859GHRc.264A>G (p.Arg88=)
c.198A>G (p.Arg66=)
c.137-5900A>G (n.137-5900A>G)
c.285A>G (p.Arg95=)
c.219A>G (p.Arg73=)
 ClinVar gnomAD v4
5g.42689017A>TCA359694960GHRc.264A>T (p.Arg88Ser)
c.198A>T (p.Arg66Ser)
c.137-5900A>T (n.137-5900A>T)
c.285A>T (p.Arg95Ser)
c.219A>T (p.Arg73Ser)
5g.42689018A>CCA443837863GHRc.265A>C (p.Arg89=)
c.199A>C (p.Arg67=)
c.137-5899A>C (n.137-5899A>C)
c.286A>C (p.Arg96=)
c.220A>C (p.Arg74=)
5g.42689018A>GCA359694962GHRc.265A>G (p.Arg89Gly)
c.199A>G (p.Arg67Gly)
c.137-5899A>G (n.137-5899A>G)
c.286A>G (p.Arg96Gly)
c.220A>G (p.Arg74Gly)
5g.42689018A>TCA359694961GHRc.265A>T (p.Arg89Trp)
c.199A>T (p.Arg67Trp)
c.137-5899A>T (n.137-5899A>T)
c.286A>T (p.Arg96Trp)
c.220A>T (p.Arg74Trp)
5g.42689019G>ACA359694963GHRc.266G>A (p.Arg89Lys)
c.200G>A (p.Arg67Lys)
c.137-5898G>A (n.137-5898G>A)
c.287G>A (p.Arg96Lys)
c.221G>A (p.Arg74Lys)
5g.42689019G>CCA359694964GHRc.266G>C (p.Arg89Thr)
c.200G>C (p.Arg67Thr)
c.137-5898G>C (n.137-5898G>C)
c.287G>C (p.Arg96Thr)
c.221G>C (p.Arg74Thr)
5g.42689019G>TCA359694965GHRc.266G>T (p.Arg89Met)
c.200G>T (p.Arg67Met)
c.137-5898G>T (n.137-5898G>T)
c.287G>T (p.Arg96Met)
c.221G>T (p.Arg74Met)
 gnomAD v4 COSMIC
5g.42689020G>ACA118047017GHRc.266+1G>A (n.266+1G>A)
c.200+1G>A (n.200+1G>A)
c.137-5897G>A (n.137-5897G>A)
c.287+1G>A (n.287+1G>A)
c.221+1G>A (n.221+1G>A)
 ClinVar dbSNP gnomAD v4
5g.42689020G>CCA359694966GHRc.266+1G>C (n.266+1G>C)
c.200+1G>C (n.200+1G>C)
c.137-5897G>C (n.137-5897G>C)
c.287+1G>C (n.287+1G>C)
c.221+1G>C (n.221+1G>C)
5g.42689020G=CA1542276977GHRc.266+1G= (n.266+1G=)
c.200+1G= (n.200+1G=)
c.137-5897G= (n.137-5897G=)
c.287+1G= (n.287+1G=)
c.221+1G= (n.221+1G=)
5g.42689020G>TCA359694967GHRc.266+1G>T (n.266+1G>T)
c.200+1G>T (n.200+1G>T)
c.137-5897G>T (n.137-5897G>T)
c.287+1G>T (n.287+1G>T)
c.221+1G>T (n.221+1G>T)
 gnomAD v4
5g.42689021T>ACA359694968GHRc.266+2T>A (n.266+2T>A)
c.200+2T>A (n.200+2T>A)
c.137-5896T>A (n.137-5896T>A)
c.287+2T>A (n.287+2T>A)
c.221+2T>A (n.221+2T>A)
5g.42689021T>CCA359694969GHRc.266+2T>C (n.266+2T>C)
c.200+2T>C (n.200+2T>C)
c.137-5896T>C (n.137-5896T>C)
c.287+2T>C (n.287+2T>C)
c.221+2T>C (n.221+2T>C)
 dbSNP gnomAD v4
5g.42689021T>GCA359694970GHRc.266+2T>G (n.266+2T>G)
c.200+2T>G (n.200+2T>G)
c.137-5896T>G (n.137-5896T>G)
c.287+2T>G (n.287+2T>G)
c.221+2T>G (n.221+2T>G)
5g.42689021T=CA1542276983GHRc.266+2T= (n.266+2T=)
c.200+2T= (n.200+2T=)
c.137-5896T= (n.137-5896T=)
c.287+2T= (n.287+2T=)
c.221+2T= (n.221+2T=)
5g.42689023C>ACA2673723500GHRc.266+4C>A (n.266+4C>A)
c.200+4C>A (n.200+4C>A)
c.137-5894C>A (n.137-5894C>A)
c.287+4C>A (n.287+4C>A)
c.221+4C>A (n.221+4C>A)
 gnomAD v4
5g.42689023C=CA1542276986GHRc.266+4C= (n.266+4C=)
c.200+4C= (n.200+4C=)
c.137-5894C= (n.137-5894C=)
c.287+4C= (n.287+4C=)
c.221+4C= (n.221+4C=)
5g.42689023C>TCA1542276990GHRc.266+4C>T (n.266+4C>T)
c.200+4C>T (n.200+4C>T)
c.137-5894C>T (n.137-5894C>T)
c.287+4C>T (n.287+4C>T)
c.221+4C>T (n.221+4C>T)
 dbSNP
5g.42689024delCA2673723499GHRc.266+5del (n.266+5del)
c.200+5del (n.200+5del)
c.137-5893del (n.137-5893del)
c.287+5del (n.287+5del)
c.221+5del (n.221+5del)
 gnomAD v4
5g.42689025A>GCA2708814834GHRc.266+6A>G (n.266+6A>G)
c.200+6A>G (n.200+6A>G)
c.137-5892A>G (n.137-5892A>G)
c.287+6A>G (n.287+6A>G)
c.221+6A>G (n.221+6A>G)
 dbSNP
5g.42689026C>ACA2697547148GHRc.266+7C>A (n.266+7C>A)
c.200+7C>A (n.200+7C>A)
c.137-5891C>A (n.137-5891C>A)
c.287+7C>A (n.287+7C>A)
c.221+7C>A (n.221+7C>A)
 ClinVar
5g.42689026C=CA1542276991GHRc.266+7C= (n.266+7C=)
c.200+7C= (n.200+7C=)
c.137-5891C= (n.137-5891C=)
c.287+7C= (n.287+7C=)
c.221+7C= (n.221+7C=)
5g.42689026C>GCA558917095GHRc.266+7C>G (n.266+7C>G)
c.200+7C>G (n.200+7C>G)
c.137-5891C>G (n.137-5891C>G)
c.287+7C>G (n.287+7C>G)
c.221+7C>G (n.221+7C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.42689026C>TCA2673723501GHRc.266+7C>T (n.266+7C>T)
c.200+7C>T (n.200+7C>T)
c.137-5891C>T (n.137-5891C>T)
c.287+7C>T (n.287+7C>T)
c.221+7C>T (n.221+7C>T)
 gnomAD v4
5g.42689027C=CA1542276992GHRc.266+8C= (n.266+8C=)
c.200+8C= (n.200+8C=)
c.137-5890C= (n.137-5890C=)
c.287+8C= (n.287+8C=)
c.221+8C= (n.221+8C=)
5g.42689027C>TCA1542276994GHRc.266+8C>T (n.266+8C>T)
c.200+8C>T (n.200+8C>T)
c.137-5890C>T (n.137-5890C>T)
c.287+8C>T (n.287+8C>T)
c.221+8C>T (n.221+8C>T)
 dbSNP
5g.42689028A=CA1542276999GHRc.266+9A= (n.266+9A=)
c.200+9A= (n.200+9A=)
c.137-5889A= (n.137-5889A=)
c.287+9A= (n.287+9A=)
c.221+9A= (n.221+9A=)
5g.42689028A>GCA558917096GHRc.266+9A>G (n.266+9A>G)
c.200+9A>G (n.200+9A>G)
c.137-5889A>G (n.137-5889A>G)
c.287+9A>G (n.287+9A>G)
c.221+9A>G (n.221+9A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.42689029T>CCA2673723502GHRc.266+10T>C (n.266+10T>C)
c.200+10T>C (n.200+10T>C)
c.137-5888T>C (n.137-5888T>C)
c.287+10T>C (n.287+10T>C)
c.221+10T>C (n.221+10T>C)
 gnomAD v4
5g.42689030C>ACA2673723503GHRc.266+11C>A (n.266+11C>A)
c.200+11C>A (n.200+11C>A)
c.137-5887C>A (n.137-5887C>A)
c.287+11C>A (n.287+11C>A)
c.221+11C>A (n.221+11C>A)
 gnomAD v4
5g.42689031A>CCA2673723504GHRc.266+12A>C (n.266+12A>C)
c.200+12A>C (n.200+12A>C)
c.137-5886A>C (n.137-5886A>C)
c.287+12A>C (n.287+12A>C)
c.221+12A>C (n.221+12A>C)
 gnomAD v4
5g.42689032T>GCA3254360GHRc.266+13T>G (n.266+13T>G)
c.200+13T>G (n.200+13T>G)
c.137-5885T>G (n.137-5885T>G)
c.287+13T>G (n.287+13T>G)
c.221+13T>G (n.221+13T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42689032T=CA1542277003GHRc.266+13T= (n.266+13T=)
c.200+13T= (n.200+13T=)
c.137-5885T= (n.137-5885T=)
c.287+13T= (n.287+13T=)
c.221+13T= (n.221+13T=)
5g.42689033G>ACA2578302043GHRc.266+14G>A (n.266+14G>A)
c.200+14G>A (n.200+14G>A)
c.137-5884G>A (n.137-5884G>A)
c.287+14G>A (n.287+14G>A)
c.221+14G>A (n.221+14G>A)
5g.42689034C>ACA2673723505GHRc.266+15C>A (n.266+15C>A)
c.200+15C>A (n.200+15C>A)
c.137-5883C>A (n.137-5883C>A)
c.287+15C>A (n.287+15C>A)
c.221+15C>A (n.221+15C>A)
 ClinVar gnomAD v4
5g.42689034C=CA1542277010GHRc.266+15C= (n.266+15C=)
c.200+15C= (n.200+15C=)
c.137-5883C= (n.137-5883C=)
c.287+15C= (n.287+15C=)
c.221+15C= (n.221+15C=)
5g.42689034C>GCA558917097GHRc.266+15C>G (n.266+15C>G)
c.200+15C>G (n.200+15C>G)
c.137-5883C>G (n.137-5883C>G)
c.287+15C>G (n.287+15C>G)
c.221+15C>G (n.221+15C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.42689035C>TCA2673723506GHRc.266+16C>T (n.266+16C>T)
c.200+16C>T (n.200+16C>T)
c.137-5882C>T (n.137-5882C>T)
c.287+16C>T (n.287+16C>T)
c.221+16C>T (n.221+16C>T)
 gnomAD v4
5g.42689036T>CCA2697547149GHRc.266+17T>C (n.266+17T>C)
c.200+17T>C (n.200+17T>C)
c.137-5881T>C (n.137-5881T>C)
c.287+17T>C (n.287+17T>C)
c.221+17T>C (n.221+17T>C)
 ClinVar
5g.42689036T>GCA558917098GHRc.266+17T>G (n.266+17T>G)
c.200+17T>G (n.200+17T>G)
c.137-5881T>G (n.137-5881T>G)
c.287+17T>G (n.287+17T>G)
c.221+17T>G (n.221+17T>G)
 dbSNP gnomAD v2 gnomAD v4
5g.42689036T=CA1542277013GHRc.266+17T= (n.266+17T=)
c.200+17T= (n.200+17T=)
c.137-5881T= (n.137-5881T=)
c.287+17T= (n.287+17T=)
c.221+17T= (n.221+17T=)
5g.42689037_42689046dupCA2673723507GHRc.266+18_266+27dup (n.266+18_266+27dup)
c.200+18_200+27dup (n.200+18_200+27dup)
c.137-5880_137-5871dup (n.137-5880_137-5871dup)
c.287+18_287+27dup (n.287+18_287+27dup)
c.221+18_221+27dup (n.221+18_221+27dup)
 gnomAD v4

Number of alleles fetched