Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71444072C>ACA381696351DHCR7c.242G>T (p.Arg81Leu)
c.68G>T (p.Arg23Leu)
n.519G>T
c.-333-11G>T (n.-333-11G>T)
c.146G>T (p.Arg49Leu)
c.182G>T (p.Arg61Leu)
 gnomAD v4
11g.71444072C=CA1981491046DHCR7c.242G= (p.Arg81=)
c.68G= (p.Arg23=)
n.519G=
c.-333-11G= (n.-333-11G=)
c.146G= (p.Arg49=)
c.182G= (p.Arg61=)
11g.71444072C>GCA381696353DHCR7c.242G>C (p.Arg81Pro)
c.68G>C (p.Arg23Pro)
n.519G>C
c.-333-11G>C (n.-333-11G>C)
c.146G>C (p.Arg49Pro)
c.182G>C (p.Arg61Pro)
11g.71444072C>TCA6162655DHCR7c.242G>A (p.Arg81Gln)
c.68G>A (p.Arg23Gln)
n.519G>A
c.-333-11G>A (n.-333-11G>A)
c.146G>A (p.Arg49Gln)
c.182G>A (p.Arg61Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444073G>ACA6162656DHCR7c.241C>T (p.Arg81Trp)
c.67C>T (p.Arg23Trp)
n.518C>T
c.-333-12C>T (n.-333-12C>T)
c.145C>T (p.Arg49Trp)
c.181C>T (p.Arg61Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444073G>CCA6162657DHCR7c.241C>G (p.Arg81Gly)
c.67C>G (p.Arg23Gly)
n.518C>G
c.-333-12C>G (n.-333-12C>G)
c.145C>G (p.Arg49Gly)
c.181C>G (p.Arg61Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444073G=CA1981491047DHCR7c.241C= (p.Arg81=)
c.67C= (p.Arg23=)
n.518C=
c.-333-12C= (n.-333-12C=)
c.145C= (p.Arg49=)
c.181C= (p.Arg61=)
11g.71444073G>TCA475520438DHCR7c.241C>A (p.Arg81=)
c.67C>A (p.Arg23=)
n.518C>A
c.-333-12C>A (n.-333-12C>A)
c.145C>A (p.Arg49=)
c.181C>A (p.Arg61=)
11g.71444074A>CCA475520447DHCR7c.240T>G (p.Ala80=)
c.66T>G (p.Ala22=)
n.517T>G
c.-333-13T>G (n.-333-13T>G)
c.144T>G (p.Ala48=)
c.180T>G (p.Ala60=)
11g.71444074A>GCA475520448DHCR7c.240T>C (p.Ala80=)
c.66T>C (p.Ala22=)
n.517T>C
c.-333-13T>C (n.-333-13T>C)
c.144T>C (p.Ala48=)
c.180T>C (p.Ala60=)
11g.71444074A>TCA475520451DHCR7c.240T>A (p.Ala80=)
c.66T>A (p.Ala22=)
n.517T>A
c.-333-13T>A (n.-333-13T>A)
c.144T>A (p.Ala48=)
c.180T>A (p.Ala60=)
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)

Number of alleles fetched