Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71444075G>ACA381696356DHCR7c.239C>T (p.Ala80Val)
c.65C>T (p.Ala22Val)
n.516C>T
c.-333-14C>T (n.-333-14C>T)
c.143C>T (p.Ala48Val)
c.179C>T (p.Ala60Val)
 ClinVar dbSNP COSMIC COSMIC
11g.71444075G>CCA381696358DHCR7c.239C>G (p.Ala80Gly)
c.65C>G (p.Ala22Gly)
n.516C>G
c.-333-14C>G (n.-333-14C>G)
c.143C>G (p.Ala48Gly)
c.179C>G (p.Ala60Gly)
11g.71444075G=CA1981491048DHCR7c.239C= (p.Ala80=)
c.65C= (p.Ala22=)
n.516C=
c.-333-14C= (n.-333-14C=)
c.143C= (p.Ala48=)
c.179C= (p.Ala60=)
11g.71444075G>TCA381696359DHCR7c.239C>A (p.Ala80Asp)
c.65C>A (p.Ala22Asp)
n.516C>A
c.-333-14C>A (n.-333-14C>A)
c.143C>A (p.Ala48Asp)
c.179C>A (p.Ala60Asp)
 gnomAD v4
11g.71444076C>ACA381696362DHCR7c.238G>T (p.Ala80Ser)
c.64G>T (p.Ala22Ser)
n.515G>T
c.-333-15G>T (n.-333-15G>T)
c.142G>T (p.Ala48Ser)
c.178G>T (p.Ala60Ser)
11g.71444076C>GCA381696364DHCR7c.238G>C (p.Ala80Pro)
c.64G>C (p.Ala22Pro)
n.515G>C
c.-333-15G>C (n.-333-15G>C)
c.142G>C (p.Ala48Pro)
c.178G>C (p.Ala60Pro)
11g.71444076C>TCA381696366DHCR7c.238G>A (p.Ala80Thr)
c.64G>A (p.Ala22Thr)
n.515G>A
c.-333-15G>A (n.-333-15G>A)
c.142G>A (p.Ala48Thr)
c.178G>A (p.Ala60Thr)
11g.71444077A=CA1981491049DHCR7c.237T= (p.His79=)
c.63T= (p.His21=)
n.514T=
c.-333-16T= (n.-333-16T=)
c.141T= (p.His47=)
c.177T= (p.His59=)
11g.71444077A>CCA381696370DHCR7c.237T>G (p.His79Gln)
c.63T>G (p.His21Gln)
n.514T>G
c.-333-16T>G (n.-333-16T>G)
c.141T>G (p.His47Gln)
c.177T>G (p.His59Gln)
11g.71444077A>GCA475520468DHCR7c.237T>C (p.His79=)
c.63T>C (p.His21=)
n.514T>C
c.-333-16T>C (n.-333-16T>C)
c.141T>C (p.His47=)
c.177T>C (p.His59=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71444077A>TCA381696368DHCR7c.237T>A (p.His79Gln)
c.63T>A (p.His21Gln)
n.514T>A
c.-333-16T>A (n.-333-16T>A)
c.141T>A (p.His47Gln)
c.177T>A (p.His59Gln)
11g.71444078T>ACA381696372DHCR7c.236A>T (p.His79Leu)
c.62A>T (p.His21Leu)
n.513A>T
c.-333-17A>T (n.-333-17A>T)
c.140A>T (p.His47Leu)
c.176A>T (p.His59Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.71444078T>CCA381696374DHCR7c.236A>G (p.His79Arg)
c.62A>G (p.His21Arg)
n.513A>G
c.-333-17A>G (n.-333-17A>G)
c.140A>G (p.His47Arg)
c.176A>G (p.His59Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.71444078T>GCA381696375DHCR7c.236A>C (p.His79Pro)
c.62A>C (p.His21Pro)
n.513A>C
c.-333-17A>C (n.-333-17A>C)
c.140A>C (p.His47Pro)
c.176A>C (p.His59Pro)
11g.71444078T=CA1981491050DHCR7c.236A= (p.His79=)
c.62A= (p.His21=)
n.513A=
c.-333-17A= (n.-333-17A=)
c.140A= (p.His47=)
c.176A= (p.His59=)
11g.71444079G>ACA381696378DHCR7c.235C>T (p.His79Tyr)
c.61C>T (p.His21Tyr)
n.512C>T
c.-333-18C>T (n.-333-18C>T)
c.139C>T (p.His47Tyr)
c.175C>T (p.His59Tyr)
 gnomAD v4
11g.71444079G>CCA381696380DHCR7c.235C>G (p.His79Asp)
c.61C>G (p.His21Asp)
n.512C>G
c.-333-18C>G (n.-333-18C>G)
c.139C>G (p.His47Asp)
c.175C>G (p.His59Asp)
11g.71444079G>TCA381696381DHCR7c.235C>A (p.His79Asn)
c.61C>A (p.His21Asn)
n.512C>A
c.-333-18C>A (n.-333-18C>A)
c.139C>A (p.His47Asn)
c.175C>A (p.His59Asn)
11g.71444080T>ACA475520487DHCR7c.234A>T (p.Gly78=)
c.60A>T (p.Gly20=)
n.511A>T
c.-333-19A>T (n.-333-19A>T)
c.138A>T (p.Gly46=)
c.174A>T (p.Gly58=)
11g.71444080T>CCA475520489DHCR7c.234A>G (p.Gly78=)
c.60A>G (p.Gly20=)
n.511A>G
c.-333-19A>G (n.-333-19A>G)
c.138A>G (p.Gly46=)
c.174A>G (p.Gly58=)
 gnomAD v4
11g.71444080T>GCA475520491DHCR7c.234A>C (p.Gly78=)
c.60A>C (p.Gly20=)
n.511A>C
c.-333-19A>C (n.-333-19A>C)
c.138A>C (p.Gly46=)
c.174A>C (p.Gly58=)
11g.71444081C>ACA381696384DHCR7c.233G>T (p.Gly78Val)
c.59G>T (p.Gly20Val)
n.510G>T
c.-333-20G>T (n.-333-20G>T)
c.137G>T (p.Gly46Val)
c.173G>T (p.Gly58Val)
 gnomAD v4
11g.71444081C=CA1981491051DHCR7c.233G= (p.Gly78=)
c.59G= (p.Gly20=)
n.510G=
c.-333-20G= (n.-333-20G=)
c.137G= (p.Gly46=)
c.173G= (p.Gly58=)
11g.71444081C>GCA381696386DHCR7c.233G>C (p.Gly78Ala)
c.59G>C (p.Gly20Ala)
n.510G>C
c.-333-20G>C (n.-333-20G>C)
c.137G>C (p.Gly46Ala)
c.173G>C (p.Gly58Ala)
 gnomAD v4
11g.71444081C>TCA381696388DHCR7c.233G>A (p.Gly78Glu)
c.59G>A (p.Gly20Glu)
n.510G>A
c.-333-20G>A (n.-333-20G>A)
c.137G>A (p.Gly46Glu)
c.173G>A (p.Gly58Glu)
 ClinVar dbSNP
11g.71444082C>ACA381696390DHCR7c.232G>T (p.Gly78Ter)
c.58G>T (p.Gly20Ter)
n.509G>T
c.-333-21G>T (n.-333-21G>T)
c.136G>T (p.Gly46Ter)
c.172G>T (p.Gly58Ter)
11g.71444082C=CA1981491052DHCR7c.232G= (p.Gly78=)
c.58G= (p.Gly20=)
n.509G=
c.-333-21G= (n.-333-21G=)
c.136G= (p.Gly46=)
c.172G= (p.Gly58=)
11g.71444082C>GCA381696393DHCR7c.232G>C (p.Gly78Arg)
c.58G>C (p.Gly20Arg)
n.509G>C
c.-333-21G>C (n.-333-21G>C)
c.136G>C (p.Gly46Arg)
c.172G>C (p.Gly58Arg)
 gnomAD v4
11g.71444082C>TCA6162658DHCR7c.232G>A (p.Gly78Arg)
c.58G>A (p.Gly20Arg)
n.509G>A
c.-333-21G>A (n.-333-21G>A)
c.136G>A (p.Gly46Arg)
c.172G>A (p.Gly58Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444083G>ACA147245DHCR7c.231C>T (p.Thr77=)
c.57C>T (p.Thr19=)
n.508C>T
c.-333-22C>T (n.-333-22C>T)
c.135C>T (p.Thr45=)
c.171C>T (p.Thr57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444083G>CCA475520511DHCR7c.231C>G (p.Thr77=)
c.57C>G (p.Thr19=)
n.508C>G
c.-333-22C>G (n.-333-22C>G)
c.135C>G (p.Thr45=)
c.171C>G (p.Thr57=)
 ClinVar dbSNP gnomAD v4
11g.71444083G=CA1981491053DHCR7c.231C= (p.Thr77=)
c.57C= (p.Thr19=)
n.508C=
c.-333-22C= (n.-333-22C=)
c.135C= (p.Thr45=)
c.171C= (p.Thr57=)
11g.71444083G>TCA475520507DHCR7c.231C>A (p.Thr77=)
c.57C>A (p.Thr19=)
n.508C>A
c.-333-22C>A (n.-333-22C>A)
c.135C>A (p.Thr45=)
c.171C>A (p.Thr57=)
 gnomAD v4
11g.71444084G>ACA6162659DHCR7c.230C>T (p.Thr77Ile)
c.56C>T (p.Thr19Ile)
n.507C>T
c.-333-23C>T (n.-333-23C>T)
c.134C>T (p.Thr45Ile)
c.170C>T (p.Thr57Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444084G>CCA381696398DHCR7c.230C>G (p.Thr77Ser)
c.56C>G (p.Thr19Ser)
n.507C>G
c.-333-23C>G (n.-333-23C>G)
c.134C>G (p.Thr45Ser)
c.170C>G (p.Thr57Ser)
11g.71444084G=CA1981491054DHCR7c.230C= (p.Thr77=)
c.56C= (p.Thr19=)
n.507C=
c.-333-23C= (n.-333-23C=)
c.134C= (p.Thr45=)
c.170C= (p.Thr57=)
11g.71444084G>TCA381696401DHCR7c.230C>A (p.Thr77Asn)
c.56C>A (p.Thr19Asn)
n.507C>A
c.-333-23C>A (n.-333-23C>A)
c.134C>A (p.Thr45Asn)
c.170C>A (p.Thr57Asn)
11g.71444085T>ACA381696405DHCR7c.229A>T (p.Thr77Ser)
c.55A>T (p.Thr19Ser)
n.506A>T
c.-333-24A>T (n.-333-24A>T)
c.133A>T (p.Thr45Ser)
c.169A>T (p.Thr57Ser)
11g.71444085T>CCA381696407DHCR7c.229A>G (p.Thr77Ala)
c.55A>G (p.Thr19Ala)
n.506A>G
c.-333-24A>G (n.-333-24A>G)
c.133A>G (p.Thr45Ala)
c.169A>G (p.Thr57Ala)
11g.71444085T>GCA381696410DHCR7c.229A>C (p.Thr77Pro)
c.55A>C (p.Thr19Pro)
n.506A>C
c.-333-24A>C (n.-333-24A>C)
c.133A>C (p.Thr45Pro)
c.169A>C (p.Thr57Pro)
11g.71444086G>ACA475520520DHCR7c.228C>T (p.Val76=)
c.54C>T (p.Val18=)
n.505C>T
c.-333-25C>T (n.-333-25C>T)
c.132C>T (p.Val44=)
c.168C>T (p.Val56=)
 ClinVar dbSNP
11g.71444086G>CCA475520521DHCR7c.228C>G (p.Val76=)
c.54C>G (p.Val18=)
n.505C>G
c.-333-25C>G (n.-333-25C>G)
c.132C>G (p.Val44=)
c.168C>G (p.Val56=)
11g.71444086G>TCA475520522DHCR7c.228C>A (p.Val76=)
c.54C>A (p.Val18=)
n.505C>A
c.-333-25C>A (n.-333-25C>A)
c.132C>A (p.Val44=)
c.168C>A (p.Val56=)
11g.71444087A>CCA381696412DHCR7c.227T>G (p.Val76Gly)
c.53T>G (p.Val18Gly)
n.504T>G
c.-333-26T>G (n.-333-26T>G)
c.131T>G (p.Val44Gly)
c.167T>G (p.Val56Gly)
11g.71444087A>GCA381696415DHCR7c.227T>C (p.Val76Ala)
c.53T>C (p.Val18Ala)
n.504T>C
c.-333-26T>C (n.-333-26T>C)
c.131T>C (p.Val44Ala)
c.167T>C (p.Val56Ala)
11g.71444087A>TCA381696416DHCR7c.227T>A (p.Val76Asp)
c.53T>A (p.Val18Asp)
n.504T>A
c.-333-26T>A (n.-333-26T>A)
c.131T>A (p.Val44Asp)
c.167T>A (p.Val56Asp)
11g.71444088C>ACA381696418DHCR7c.226G>T (p.Val76Phe)
c.52G>T (p.Val18Phe)
n.503G>T
c.-333-27G>T (n.-333-27G>T)
c.130G>T (p.Val44Phe)
c.166G>T (p.Val56Phe)
11g.71444088C=CA1981491055DHCR7c.226G= (p.Val76=)
c.52G= (p.Val18=)
n.503G=
c.-333-27G= (n.-333-27G=)
c.130G= (p.Val44=)
c.166G= (p.Val56=)
11g.71444088C>GCA381696421DHCR7c.226G>C (p.Val76Leu)
c.52G>C (p.Val18Leu)
n.503G>C
c.-333-27G>C (n.-333-27G>C)
c.130G>C (p.Val44Leu)
c.166G>C (p.Val56Leu)
11g.71444088C>TCA6162660DHCR7c.226G>A (p.Val76Ile)
c.52G>A (p.Val18Ile)
n.503G>A
c.-333-27G>A (n.-333-27G>A)
c.130G>A (p.Val44Ile)
c.166G>A (p.Val56Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched