Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71443987G>ACA2614862901DHCR7c.321+6C>T (n.321+6C>T)
c.147+6C>T (n.147+6C>T)
c.327C>T (p.Ser109=)
n.598+6C>T
c.-265+6C>T (n.-265+6C>T)
c.225+6C>T (n.225+6C>T)
 gnomAD v4
11g.71443987G>CCA2739373816DHCR7c.321+6C>G (n.321+6C>G)
c.147+6C>G (n.147+6C>G)
c.327C>G (p.Ser109Arg)
n.598+6C>G
c.-265+6C>G (n.-265+6C>G)
c.225+6C>G (n.225+6C>G)
11g.71443987G>TCA2739373817DHCR7c.321+6C>A (n.321+6C>A)
c.147+6C>A (n.147+6C>A)
c.327C>A (p.Ser109Arg)
n.598+6C>A
c.-265+6C>A (n.-265+6C>A)
c.225+6C>A (n.225+6C>A)
11g.71443988C>ACA2739373820DHCR7c.321+5G>T (n.321+5G>T)
c.147+5G>T (n.147+5G>T)
c.326G>T (p.Ser109Ile)
n.598+5G>T
c.-265+5G>T (n.-265+5G>T)
c.225+5G>T (n.225+5G>T)
11g.71443988C>GCA2739373819DHCR7c.321+5G>C (n.321+5G>C)
c.147+5G>C (n.147+5G>C)
c.326G>C (p.Ser109Thr)
n.598+5G>C
c.-265+5G>C (n.-265+5G>C)
c.225+5G>C (n.225+5G>C)
11g.71443988C>TCA2739373818DHCR7c.321+5G>A (n.321+5G>A)
c.147+5G>A (n.147+5G>A)
c.326G>A (p.Ser109Asn)
n.598+5G>A
c.-265+5G>A (n.-265+5G>A)
c.225+5G>A (n.225+5G>A)
11g.71443989T>ACA600241286DHCR7c.321+4A>T (n.321+4A>T)
c.147+4A>T (n.147+4A>T)
c.325A>T (p.Ser109Cys)
n.598+4A>T
c.-265+4A>T (n.-265+4A>T)
c.225+4A>T (n.225+4A>T)
 dbSNP gnomAD v2
11g.71443989T>CCA2739373821DHCR7c.321+4A>G (n.321+4A>G)
c.147+4A>G (n.147+4A>G)
c.325A>G (p.Ser109Gly)
n.598+4A>G
c.-265+4A>G (n.-265+4A>G)
c.225+4A>G (n.225+4A>G)
11g.71443989T>GCA2739373822DHCR7c.321+4A>C (n.321+4A>C)
c.147+4A>C (n.147+4A>C)
c.325A>C (p.Ser109Arg)
n.598+4A>C
c.-265+4A>C (n.-265+4A>C)
c.225+4A>C (n.225+4A>C)
11g.71443989T=CA1981491007DHCR7c.321+4A= (n.321+4A=)
c.147+4A= (n.147+4A=)
c.325A= (p.Ser109=)
n.598+4A=
c.-265+4A= (n.-265+4A=)
c.225+4A= (n.225+4A=)
11g.71443990G>CCA2614862902DHCR7c.321+3C>G (n.321+3C>G)
c.147+3C>G (n.147+3C>G)
c.324C>G (p.Val108=)
n.598+3C>G
c.-265+3C>G (n.-265+3C>G)
c.225+3C>G (n.225+3C>G)
 gnomAD v4
11g.71443990G>TCA2614862908DHCR7c.321+3C>A (n.321+3C>A)
c.147+3C>A (n.147+3C>A)
c.324C>A (p.Val108=)
n.598+3C>A
c.-265+3C>A (n.-265+3C>A)
c.225+3C>A (n.225+3C>A)
 gnomAD v4
11g.71443991A>CCA381695845DHCR7c.321+2T>G (n.321+2T>G)
c.147+2T>G (n.147+2T>G)
c.323T>G (p.Val108Gly)
n.598+2T>G
c.-265+2T>G (n.-265+2T>G)
c.225+2T>G (n.225+2T>G)
11g.71443991A>GCA381695848DHCR7c.321+2T>C (n.321+2T>C)
c.147+2T>C (n.147+2T>C)
c.323T>C (p.Val108Ala)
n.598+2T>C
c.-265+2T>C (n.-265+2T>C)
c.225+2T>C (n.225+2T>C)
11g.71443991A>TCA381695846DHCR7c.321+2T>A (n.321+2T>A)
c.147+2T>A (n.147+2T>A)
c.323T>A (p.Val108Asp)
n.598+2T>A
c.-265+2T>A (n.-265+2T>A)
c.225+2T>A (n.225+2T>A)
11g.71443992C>ACA381695850DHCR7c.321+1G>T (n.321+1G>T)
c.147+1G>T (n.147+1G>T)
c.322G>T (p.Val108Phe)
n.598+1G>T
c.-265+1G>T (n.-265+1G>T)
c.225+1G>T (n.225+1G>T)
 COSMIC COSMIC
11g.71443992C>GCA381695852DHCR7c.321+1G>C (n.321+1G>C)
c.147+1G>C (n.147+1G>C)
c.322G>C (p.Val108Leu)
n.598+1G>C
c.-265+1G>C (n.-265+1G>C)
c.225+1G>C (n.225+1G>C)
11g.71443992C>TCA381695853DHCR7c.321+1G>A (n.321+1G>A)
c.147+1G>A (n.147+1G>A)
c.322G>A (p.Val108Ile)
n.598+1G>A
c.-265+1G>A (n.-265+1G>A)
c.225+1G>A (n.225+1G>A)
11g.71443993C>ACA381695854DHCR7c.321G>T (p.Gln107His)
c.147G>T (p.Gln49His)
n.598G>T
c.-265G>T (n.-265G>T)
c.225G>T (p.Gln75His)
 gnomAD v4
11g.71443993C=CA1981491008DHCR7c.321G= (p.Gln107=)
c.147G= (p.Gln49=)
n.598G=
c.-265G= (n.-265G=)
c.225G= (p.Gln75=)
11g.71443993C>GCA6162641DHCR7c.321G>C (p.Gln107His)
c.147G>C (p.Gln49His)
n.598G>C
c.-265G>C (n.-265G>C)
c.225G>C (p.Gln75His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71443993C>TCA475519971DHCR7c.321G>A (p.Gln107=)
c.147G>A (p.Gln49=)
n.598G>A
c.-265G>A (n.-265G>A)
c.225G>A (p.Gln75=)
 gnomAD v4
11g.71443994T>ACA381695857DHCR7c.320A>T (p.Gln107Leu)
c.146A>T (p.Gln49Leu)
n.597A>T
c.-266A>T (n.-266A>T)
c.224A>T (p.Gln75Leu)
11g.71443994T>CCA381695859DHCR7c.320A>G (p.Gln107Arg)
c.146A>G (p.Gln49Arg)
n.597A>G
c.-266A>G (n.-266A>G)
c.224A>G (p.Gln75Arg)
11g.71443994T>GCA381695860DHCR7c.320A>C (p.Gln107Pro)
c.146A>C (p.Gln49Pro)
n.597A>C
c.-266A>C (n.-266A>C)
c.224A>C (p.Gln75Pro)
11g.71443995G>ACA381695863DHCR7c.319C>T (p.Gln107Ter)
c.145C>T (p.Gln49Ter)
n.596C>T
c.-267C>T (n.-267C>T)
c.223C>T (p.Gln75Ter)
11g.71443995G>CCA381695866DHCR7c.319C>G (p.Gln107Glu)
c.145C>G (p.Gln49Glu)
n.596C>G
c.-267C>G (n.-267C>G)
c.223C>G (p.Gln75Glu)
11g.71443995G>TCA381695868DHCR7c.319C>A (p.Gln107Lys)
c.145C>A (p.Gln49Lys)
n.596C>A
c.-267C>A (n.-267C>A)
c.223C>A (p.Gln75Lys)
11g.71443996G>ACA475519984DHCR7c.318C>T (p.Phe106=)
c.144C>T (p.Phe48=)
n.595C>T
c.-268C>T (n.-268C>T)
c.222C>T (p.Phe74=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71443996G>CCA381695874DHCR7c.318C>G (p.Phe106Leu)
c.144C>G (p.Phe48Leu)
n.595C>G
c.-268C>G (n.-268C>G)
c.222C>G (p.Phe74Leu)
11g.71443996G=CA1981491009DHCR7c.318C= (p.Phe106=)
c.144C= (p.Phe48=)
n.595C=
c.-268C= (n.-268C=)
c.222C= (p.Phe74=)
11g.71443996G>TCA381695870DHCR7c.318C>A (p.Phe106Leu)
c.144C>A (p.Phe48Leu)
n.595C>A
c.-268C>A (n.-268C>A)
c.222C>A (p.Phe74Leu)
11g.71443997A=CA1981491010DHCR7c.317T= (p.Phe106=)
c.143T= (p.Phe48=)
n.594T=
c.-269T= (n.-269T=)
c.221T= (p.Phe74=)
c.317T=
11g.71443997A>CCA381695876DHCR7c.317T>G (p.Phe106Cys)
c.143T>G (p.Phe48Cys)
n.594T>G
c.-269T>G (n.-269T>G)
c.221T>G (p.Phe74Cys)
c.317T>G
 gnomAD v4
11g.71443997A>GCA381695877DHCR7c.317T>C (p.Phe106Ser)
c.143T>C (p.Phe48Ser)
n.594T>C
c.-269T>C (n.-269T>C)
c.221T>C (p.Phe74Ser)
c.317T>C
 gnomAD v4
11g.71443997A>TCA224280797DHCR7c.317T>A (p.Phe106Tyr)
c.143T>A (p.Phe48Tyr)
n.594T>A
c.-269T>A (n.-269T>A)
c.221T>A (p.Phe74Tyr)
c.317T>A
 ClinVar dbSNP gnomAD v4
11g.71443998A>CCA381695878DHCR7c.316T>G (p.Phe106Val)
c.142T>G (p.Phe48Val)
n.593T>G
c.-270T>G (n.-270T>G)
c.220T>G (p.Phe74Val)
c.316T>G
11g.71443998A>GCA381695879DHCR7c.316T>C (p.Phe106Leu)
c.142T>C (p.Phe48Leu)
n.593T>C
c.-270T>C (n.-270T>C)
c.220T>C (p.Phe74Leu)
c.316T>C
11g.71443998A>TCA381695881DHCR7c.316T>A (p.Phe106Ile)
c.142T>A (p.Phe48Ile)
n.593T>A
c.-270T>A (n.-270T>A)
c.220T>A (p.Phe74Ile)
c.316T>A
11g.71443999G>ACA475519998DHCR7c.315C>T (p.Thr105=)
c.141C>T (p.Thr47=)
n.592C>T
c.-271C>T (n.-271C>T)
c.219C>T (p.Thr73=)
 ClinVar
11g.71443999G>CCA475520003DHCR7c.315C>G (p.Thr105=)
c.141C>G (p.Thr47=)
n.592C>G
c.-271C>G (n.-271C>G)
c.219C>G (p.Thr73=)
11g.71443999G>TCA475520000DHCR7c.315C>A (p.Thr105=)
c.141C>A (p.Thr47=)
n.592C>A
c.-271C>A (n.-271C>A)
c.219C>A (p.Thr73=)
11g.71444000G>ACA381695888DHCR7c.314C>T (p.Thr105Ile)
c.140C>T (p.Thr47Ile)
n.591C>T
c.-272C>T (n.-272C>T)
c.218C>T (p.Thr73Ile)
11g.71444000G>CCA381695886DHCR7c.314C>G (p.Thr105Ser)
c.140C>G (p.Thr47Ser)
n.591C>G
c.-272C>G (n.-272C>G)
c.218C>G (p.Thr73Ser)
11g.71444000G=CA1981491011DHCR7c.314C= (p.Thr105=)
c.140C= (p.Thr47=)
n.591C=
c.-272C= (n.-272C=)
c.218C= (p.Thr73=)
11g.71444000G>TCA381695884DHCR7c.314C>A (p.Thr105Asn)
c.140C>A (p.Thr47Asn)
n.591C>A
c.-272C>A (n.-272C>A)
c.218C>A (p.Thr73Asn)
 dbSNP gnomAD v2
11g.71444001T>ACA381695890DHCR7c.313A>T (p.Thr105Ser)
c.139A>T (p.Thr47Ser)
n.590A>T
c.-273A>T (n.-273A>T)
c.217A>T (p.Thr73Ser)
11g.71444001T>CCA381695892DHCR7c.313A>G (p.Thr105Ala)
c.139A>G (p.Thr47Ala)
n.590A>G
c.-273A>G (n.-273A>G)
c.217A>G (p.Thr73Ala)
11g.71444001T>GCA381695894DHCR7c.313A>C (p.Thr105Pro)
c.139A>C (p.Thr47Pro)
n.590A>C
c.-273A>C (n.-273A>C)
c.217A>C (p.Thr73Pro)
11g.71444002G>ACA475520017DHCR7c.312C>T (p.Val104=)
c.138C>T (p.Val46=)
n.589C>T
c.-274C>T (n.-274C>T)
c.216C>T (p.Val72=)
11g.71444002G>CCA475520019DHCR7c.312C>G (p.Val104=)
c.138C>G (p.Val46=)
n.589C>G
c.-274C>G (n.-274C>G)
c.216C>G (p.Val72=)
11g.71444002G>TCA475520021DHCR7c.312C>A (p.Val104=)
c.138C>A (p.Val46=)
n.589C>A
c.-274C>A (n.-274C>A)
c.216C>A (p.Val72=)
 gnomAD v4
11g.71444003A>CCA381695896DHCR7c.311T>G (p.Val104Gly)
c.137T>G (p.Val46Gly)
n.588T>G
c.-275T>G (n.-275T>G)
c.215T>G (p.Val72Gly)
11g.71444003A>GCA381695899DHCR7c.311T>C (p.Val104Ala)
c.137T>C (p.Val46Ala)
n.588T>C
c.-275T>C (n.-275T>C)
c.215T>C (p.Val72Ala)
11g.71444003A>TCA381695901DHCR7c.311T>A (p.Val104Asp)
c.137T>A (p.Val46Asp)
n.588T>A
c.-275T>A (n.-275T>A)
c.215T>A (p.Val72Asp)
11g.71444004C>ACA381695904DHCR7c.310G>T (p.Val104Phe)
c.136G>T (p.Val46Phe)
n.587G>T
c.-276G>T (n.-276G>T)
c.214G>T (p.Val72Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444004C=CA1981491012DHCR7c.310G= (p.Val104=)
c.136G= (p.Val46=)
n.587G=
c.-276G= (n.-276G=)
c.214G= (p.Val72=)
11g.71444004C>GCA381695908DHCR7c.310G>C (p.Val104Leu)
c.136G>C (p.Val46Leu)
n.587G>C
c.-276G>C (n.-276G>C)
c.214G>C (p.Val72Leu)
11g.71444004C>TCA381695906DHCR7c.310G>A (p.Val104Ile)
c.136G>A (p.Val46Ile)
n.587G>A
c.-276G>A (n.-276G>A)
c.214G>A (p.Val72Ile)
11g.71444005C>ACA381695911DHCR7c.309G>T (p.Trp103Cys)
c.135G>T (p.Trp45Cys)
n.586G>T
c.-277G>T (n.-277G>T)
c.213G>T (p.Trp71Cys)
11g.71444005C>GCA381695913DHCR7c.309G>C (p.Trp103Cys)
c.135G>C (p.Trp45Cys)
n.586G>C
c.-277G>C (n.-277G>C)
c.213G>C (p.Trp71Cys)
11g.71444005C>TCA381695917DHCR7c.309G>A (p.Trp103Ter)
c.135G>A (p.Trp45Ter)
n.586G>A
c.-277G>A (n.-277G>A)
c.213G>A (p.Trp71Ter)
11g.71444006C>ACA381695920DHCR7c.308G>T (p.Trp103Leu)
c.134G>T (p.Trp45Leu)
n.585G>T
c.-278G>T (n.-278G>T)
c.212G>T (p.Trp71Leu)
11g.71444006C>GCA381695922DHCR7c.308G>C (p.Trp103Ser)
c.134G>C (p.Trp45Ser)
n.585G>C
c.-278G>C (n.-278G>C)
c.212G>C (p.Trp71Ser)
11g.71444006C>TCA381695924DHCR7c.308G>A (p.Trp103Ter)
c.134G>A (p.Trp45Ter)
n.585G>A
c.-278G>A (n.-278G>A)
c.212G>A (p.Trp71Ter)
11g.71444007A>CCA381695927DHCR7c.307T>G (p.Trp103Gly)
c.133T>G (p.Trp45Gly)
n.584T>G
c.-279T>G (n.-279T>G)
c.211T>G (p.Trp71Gly)
11g.71444007A>GCA381695929DHCR7c.307T>C (p.Trp103Arg)
c.133T>C (p.Trp45Arg)
n.584T>C
c.-279T>C (n.-279T>C)
c.211T>C (p.Trp71Arg)
11g.71444007A>TCA381695930DHCR7c.307T>A (p.Trp103Arg)
c.133T>A (p.Trp45Arg)
n.584T>A
c.-279T>A (n.-279T>A)
c.211T>A (p.Trp71Arg)
11g.71444008C>ACA381695931DHCR7c.306G>T (p.Leu102Phe)
c.132G>T (p.Leu44Phe)
n.583G>T
c.-280G>T (n.-280G>T)
c.210G>T (p.Leu70Phe)
11g.71444008C=CA1981491013DHCR7c.306G= (p.Leu102=)
c.132G= (p.Leu44=)
n.583G=
c.-280G= (n.-280G=)
c.210G= (p.Leu70=)
11g.71444008C>GCA381695933DHCR7c.306G>C (p.Leu102Phe)
c.132G>C (p.Leu44Phe)
n.583G>C
c.-280G>C (n.-280G>C)
c.210G>C (p.Leu70Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.71444008C>TCA475520058DHCR7c.306G>A (p.Leu102=)
c.132G>A (p.Leu44=)
n.583G>A
c.-280G>A (n.-280G>A)
c.210G>A (p.Leu70=)
 gnomAD v4
11g.71444009A=CA1981491014DHCR7c.305T= (p.Leu102=)
c.131T= (p.Leu44=)
n.582T=
c.-281T= (n.-281T=)
c.209T= (p.Leu70=)
11g.71444009A>CCA381695935DHCR7c.305T>G (p.Leu102Trp)
c.131T>G (p.Leu44Trp)
n.582T>G
c.-281T>G (n.-281T>G)
c.209T>G (p.Leu70Trp)
11g.71444009A>GCA381695942DHCR7c.305T>C (p.Leu102Ser)
c.131T>C (p.Leu44Ser)
n.582T>C
c.-281T>C (n.-281T>C)
c.209T>C (p.Leu70Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444009A>TCA381695940DHCR7c.305T>A (p.Leu102Ter)
c.131T>A (p.Leu44Ter)
n.582T>A
c.-281T>A (n.-281T>A)
c.209T>A (p.Leu70Ter)
 ClinVar
11g.71444010A=CA1981491015DHCR7c.304T= (p.Leu102=)
c.130T= (p.Leu44=)
n.581T=
c.-282T= (n.-282T=)
c.208T= (p.Leu70=)
11g.71444010A>CCA381695945DHCR7c.304T>G (p.Leu102Val)
c.130T>G (p.Leu44Val)
n.581T>G
c.-282T>G (n.-282T>G)
c.208T>G (p.Leu70Val)
11g.71444010A>GCA475520068DHCR7c.304T>C (p.Leu102=)
c.130T>C (p.Leu44=)
n.581T>C
c.-282T>C (n.-282T>C)
c.208T>C (p.Leu70=)
 ClinVar dbSNP gnomAD v4
11g.71444010A>TCA381695947DHCR7c.304T>A (p.Leu102Met)
c.130T>A (p.Leu44Met)
n.581T>A
c.-282T>A (n.-282T>A)
c.208T>A (p.Leu70Met)
11g.71444011G>ACA6162642DHCR7c.303C>T (p.Thr101=)
c.129C>T (p.Thr43=)
n.580C>T
c.-283C>T (n.-283C>T)
c.207C>T (p.Thr69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444011G>CCA475520075DHCR7c.303C>G (p.Thr101=)
c.129C>G (p.Thr43=)
n.580C>G
c.-283C>G (n.-283C>G)
c.207C>G (p.Thr69=)
 gnomAD v4
11g.71444011G=CA1981491016DHCR7c.303C= (p.Thr101=)
c.129C= (p.Thr43=)
n.580C=
c.-283C= (n.-283C=)
c.207C= (p.Thr69=)
11g.71444011G>TCA475520078DHCR7c.303C>A (p.Thr101=)
c.129C>A (p.Thr43=)
n.580C>A
c.-283C>A (n.-283C>A)
c.207C>A (p.Thr69=)
11g.71444012G>ACA381695951DHCR7c.302C>T (p.Thr101Ile)
c.128C>T (p.Thr43Ile)
n.579C>T
c.-284C>T (n.-284C>T)
c.206C>T (p.Thr69Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.71444012G>CCA381695949DHCR7c.302C>G (p.Thr101Ser)
c.128C>G (p.Thr43Ser)
n.579C>G
c.-284C>G (n.-284C>G)
c.206C>G (p.Thr69Ser)
11g.71444012G=CA1981491017DHCR7c.302C= (p.Thr101=)
c.128C= (p.Thr43=)
n.579C=
c.-284C= (n.-284C=)
c.206C= (p.Thr69=)
11g.71444012G>TCA381695950DHCR7c.302C>A (p.Thr101Asn)
c.128C>A (p.Thr43Asn)
n.579C>A
c.-284C>A (n.-284C>A)
c.206C>A (p.Thr69Asn)
11g.71444013T>ACA381695954DHCR7c.301A>T (p.Thr101Ser)
c.127A>T (p.Thr43Ser)
n.578A>T
c.-285A>T (n.-285A>T)
c.205A>T (p.Thr69Ser)
11g.71444013T>CCA381695956DHCR7c.301A>G (p.Thr101Ala)
c.127A>G (p.Thr43Ala)
n.578A>G
c.-285A>G (n.-285A>G)
c.205A>G (p.Thr69Ala)
11g.71444013T>GCA381695958DHCR7c.301A>C (p.Thr101Pro)
c.127A>C (p.Thr43Pro)
n.578A>C
c.-285A>C (n.-285A>C)
c.205A>C (p.Thr69Pro)
11g.71444014A=CA1981491018DHCR7c.300T= (p.Tyr100=)
c.126T= (p.Tyr42=)
n.577T=
c.-286T= (n.-286T=)
c.204T= (p.Tyr68=)
11g.71444014A>CCA381695961DHCR7c.300T>G (p.Tyr100Ter)
c.126T>G (p.Tyr42Ter)
n.577T>G
c.-286T>G (n.-286T>G)
c.204T>G (p.Tyr68Ter)
11g.71444014A>GCA475520095DHCR7c.300T>C (p.Tyr100=)
c.126T>C (p.Tyr42=)
n.577T>C
c.-286T>C (n.-286T>C)
c.204T>C (p.Tyr68=)
11g.71444014A>TCA381695963DHCR7c.300T>A (p.Tyr100Ter)
c.126T>A (p.Tyr42Ter)
n.577T>A
c.-286T>A (n.-286T>A)
c.204T>A (p.Tyr68Ter)
 ClinVar dbSNP
11g.71444015T>ACA381695969DHCR7c.299A>T (p.Tyr100Phe)
c.125A>T (p.Tyr42Phe)
n.576A>T
c.-287A>T (n.-287A>T)
c.203A>T (p.Tyr68Phe)
11g.71444015T>CCA381695973DHCR7c.299A>G (p.Tyr100Cys)
c.125A>G (p.Tyr42Cys)
n.576A>G
c.-287A>G (n.-287A>G)
c.203A>G (p.Tyr68Cys)
 ClinVar gnomAD v4
11g.71444015T>GCA381695976DHCR7c.299A>C (p.Tyr100Ser)
c.125A>C (p.Tyr42Ser)
n.576A>C
c.-287A>C (n.-287A>C)
c.203A>C (p.Tyr68Ser)
11g.71444016_71444021delCA2614862961DHCR7c.294_299del (p.Gln98_Tyr100delinsHis)
c.120_125del (p.Gln40_Tyr42delinsHis)
n.571_576del
c.-292_-287del (n.-292_-287del)
c.198_203del (p.Gln66_Tyr68delinsHis)
 gnomAD v4
11g.71444016A>CCA381695979DHCR7c.298T>G (p.Tyr100Asp)
c.124T>G (p.Tyr42Asp)
n.575T>G
c.-288T>G (n.-288T>G)
c.202T>G (p.Tyr68Asp)
11g.71444016A>GCA381695985DHCR7c.298T>C (p.Tyr100His)
c.124T>C (p.Tyr42His)
n.575T>C
c.-288T>C (n.-288T>C)
c.202T>C (p.Tyr68His)
11g.71444016A>TCA381695989DHCR7c.298T>A (p.Tyr100Asn)
c.124T>A (p.Tyr42Asn)
n.575T>A
c.-288T>A (n.-288T>A)
c.202T>A (p.Tyr68Asn)
 COSMIC COSMIC
11g.71444017G>ACA475520108DHCR7c.297C>T (p.Leu99=)
c.123C>T (p.Leu41=)
n.574C>T
c.-289C>T (n.-289C>T)
c.201C>T (p.Leu67=)
 ClinVar
11g.71444017G>CCA475520110DHCR7c.297C>G (p.Leu99=)
c.123C>G (p.Leu41=)
n.574C>G
c.-289C>G (n.-289C>G)
c.201C>G (p.Leu67=)
 COSMIC COSMIC
11g.71444017G>TCA475520112DHCR7c.297C>A (p.Leu99=)
c.123C>A (p.Leu41=)
n.574C>A
c.-289C>A (n.-289C>A)
c.201C>A (p.Leu67=)
11g.71444018A=CA1981491019DHCR7c.296T= (p.Leu99=)
c.122T= (p.Leu41=)
n.573T=
c.-290T= (n.-290T=)
c.200T= (p.Leu67=)
11g.71444018A>CCA381695993DHCR7c.296T>G (p.Leu99Arg)
c.122T>G (p.Leu41Arg)
n.573T>G
c.-290T>G (n.-290T>G)
c.200T>G (p.Leu67Arg)
11g.71444018A>GCA6162643DHCR7c.296T>C (p.Leu99Pro)
c.122T>C (p.Leu41Pro)
n.573T>C
c.-290T>C (n.-290T>C)
c.200T>C (p.Leu67Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444018A>TCA381696000DHCR7c.296T>A (p.Leu99His)
c.122T>A (p.Leu41His)
n.573T>A
c.-290T>A (n.-290T>A)
c.200T>A (p.Leu67His)
11g.71444019G>ACA381696007DHCR7c.295C>T (p.Leu99Phe)
c.121C>T (p.Leu41Phe)
n.572C>T
c.-291C>T (n.-291C>T)
c.199C>T (p.Leu67Phe)
 dbSNP
11g.71444019G>CCA381696010DHCR7c.295C>G (p.Leu99Val)
c.121C>G (p.Leu41Val)
n.572C>G
c.-291C>G (n.-291C>G)
c.199C>G (p.Leu67Val)
11g.71444019G=CA1981491020DHCR7c.295C= (p.Leu99=)
c.121C= (p.Leu41=)
n.572C=
c.-291C= (n.-291C=)
c.199C= (p.Leu67=)
11g.71444019G>TCA381696027DHCR7c.295C>A (p.Leu99Ile)
c.121C>A (p.Leu41Ile)
n.572C>A
c.-291C>A (n.-291C>A)
c.199C>A (p.Leu67Ile)
11g.71444020C>ACA381696029DHCR7c.294G>T (p.Gln98His)
c.120G>T (p.Gln40His)
n.571G>T
c.-292G>T (n.-292G>T)
c.198G>T (p.Gln66His)
 gnomAD v4
11g.71444020C=CA1981491021DHCR7c.294G= (p.Gln98=)
c.120G= (p.Gln40=)
n.571G=
c.-292G= (n.-292G=)
c.198G= (p.Gln66=)
11g.71444020C>GCA381696030DHCR7c.294G>C (p.Gln98His)
c.120G>C (p.Gln40His)
n.571G>C
c.-292G>C (n.-292G>C)
c.198G>C (p.Gln66His)
11g.71444020C>TCA475520126DHCR7c.294G>A (p.Gln98=)
c.120G>A (p.Gln40=)
n.571G>A
c.-292G>A (n.-292G>A)
c.198G>A (p.Gln66=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444021T>ACA381696032DHCR7c.293A>T (p.Gln98Leu)
c.119A>T (p.Gln40Leu)
n.570A>T
c.-293A>T (n.-293A>T)
c.197A>T (p.Gln66Leu)
11g.71444021T>CCA381696034DHCR7c.293A>G (p.Gln98Arg)
c.119A>G (p.Gln40Arg)
n.570A>G
c.-293A>G (n.-293A>G)
c.197A>G (p.Gln66Arg)
11g.71444021T>GCA381696038DHCR7c.293A>C (p.Gln98Pro)
c.119A>C (p.Gln40Pro)
n.570A>C
c.-293A>C (n.-293A>C)
c.197A>C (p.Gln66Pro)
11g.71444022G>ACA273887DHCR7c.292C>T (p.Gln98Ter)
c.118C>T (p.Gln40Ter)
n.569C>T
c.-294C>T (n.-294C>T)
c.196C>T (p.Gln66Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444022G>CCA381696045DHCR7c.292C>G (p.Gln98Glu)
c.118C>G (p.Gln40Glu)
n.569C>G
c.-294C>G (n.-294C>G)
c.196C>G (p.Gln66Glu)
 gnomAD v4
11g.71444022G=CA1981491022DHCR7c.292C= (p.Gln98=)
c.118C= (p.Gln40=)
n.569C=
c.-294C= (n.-294C=)
c.196C= (p.Gln66=)
11g.71444022G>TCA381696047DHCR7c.292C>A (p.Gln98Lys)
c.118C>A (p.Gln40Lys)
n.569C>A
c.-294C>A (n.-294C>A)
c.196C>A (p.Gln66Lys)
11g.71444023G>ACA6162644DHCR7c.291C>T (p.Ala97=)
c.117C>T (p.Ala39=)
n.568C>T
c.-295C>T (n.-295C>T)
c.195C>T (p.Ala65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444023G>CCA475520143DHCR7c.291C>G (p.Ala97=)
c.117C>G (p.Ala39=)
n.568C>G
c.-295C>G (n.-295C>G)
c.195C>G (p.Ala65=)
 gnomAD v4
11g.71444023G=CA1981491023DHCR7c.291C= (p.Ala97=)
c.117C= (p.Ala39=)
n.568C=
c.-295C= (n.-295C=)
c.195C= (p.Ala65=)
11g.71444023G>TCA475520142DHCR7c.291C>A (p.Ala97=)
c.117C>A (p.Ala39=)
n.568C>A
c.-295C>A (n.-295C>A)
c.195C>A (p.Ala65=)
11g.71444024G>ACA381696058DHCR7c.290C>T (p.Ala97Val)
c.116C>T (p.Ala39Val)
n.567C>T
c.-296C>T (n.-296C>T)
c.194C>T (p.Ala65Val)
11g.71444024G>CCA381696053DHCR7c.290C>G (p.Ala97Gly)
c.116C>G (p.Ala39Gly)
n.567C>G
c.-296C>G (n.-296C>G)
c.194C>G (p.Ala65Gly)
11g.71444024G>TCA381696056DHCR7c.290C>A (p.Ala97Asp)
c.116C>A (p.Ala39Asp)
n.567C>A
c.-296C>A (n.-296C>A)
c.194C>A (p.Ala65Asp)
11g.71444025C>ACA381696062DHCR7c.289G>T (p.Ala97Ser)
c.115G>T (p.Ala39Ser)
n.566G>T
c.-297G>T (n.-297G>T)
c.193G>T (p.Ala65Ser)
11g.71444025C=CA1981491024DHCR7c.289G= (p.Ala97=)
c.115G= (p.Ala39=)
n.566G=
c.-297G= (n.-297G=)
c.193G= (p.Ala65=)
11g.71444025C>GCA381696065DHCR7c.289G>C (p.Ala97Pro)
c.115G>C (p.Ala39Pro)
n.566G>C
c.-297G>C (n.-297G>C)
c.193G>C (p.Ala65Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.71444025C>TCA6162645DHCR7c.289G>A (p.Ala97Thr)
c.115G>A (p.Ala39Thr)
n.566G>A
c.-297G>A (n.-297G>A)
c.193G>A (p.Ala65Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444026G>ACA6162646DHCR7c.288C>T (p.Ala96=)
c.114C>T (p.Ala38=)
n.565C>T
c.-298C>T (n.-298C>T)
c.192C>T (p.Ala64=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444026G>CCA475520160DHCR7c.288C>G (p.Ala96=)
c.114C>G (p.Ala38=)
n.565C>G
c.-298C>G (n.-298C>G)
c.192C>G (p.Ala64=)
11g.71444026G=CA1981491025DHCR7c.288C= (p.Ala96=)
c.114C= (p.Ala38=)
n.565C=
c.-298C= (n.-298C=)
c.192C= (p.Ala64=)
11g.71444026G>TCA475520156DHCR7c.288C>A (p.Ala96=)
c.114C>A (p.Ala38=)
n.565C>A
c.-298C>A (n.-298C>A)
c.192C>A (p.Ala64=)
 gnomAD v4
11g.71444027G>ACA381696087DHCR7c.287C>T (p.Ala96Val)
c.113C>T (p.Ala38Val)
n.564C>T
c.-299C>T (n.-299C>T)
c.191C>T (p.Ala64Val)
 dbSNP gnomAD v3 gnomAD v4
11g.71444027G>CCA381696076DHCR7c.287C>G (p.Ala96Gly)
c.113C>G (p.Ala38Gly)
n.564C>G
c.-299C>G (n.-299C>G)
c.191C>G (p.Ala64Gly)
11g.71444027G=CA1981491026DHCR7c.287C= (p.Ala96=)
c.113C= (p.Ala38=)
n.564C=
c.-299C= (n.-299C=)
c.191C= (p.Ala64=)
11g.71444027G>TCA381696079DHCR7c.287C>A (p.Ala96Asp)
c.113C>A (p.Ala38Asp)
n.564C>A
c.-299C>A (n.-299C>A)
c.191C>A (p.Ala64Asp)
11g.71444028C>ACA381696093DHCR7c.286G>T (p.Ala96Ser)
c.112G>T (p.Ala38Ser)
n.563G>T
c.-300G>T (n.-300G>T)
c.190G>T (p.Ala64Ser)
11g.71444028C>GCA381696102DHCR7c.286G>C (p.Ala96Pro)
c.112G>C (p.Ala38Pro)
n.563G>C
c.-300G>C (n.-300G>C)
c.190G>C (p.Ala64Pro)
11g.71444028C>TCA381696105DHCR7c.286G>A (p.Ala96Thr)
c.112G>A (p.Ala38Thr)
n.563G>A
c.-300G>A (n.-300G>A)
c.190G>A (p.Ala64Thr)
11g.71444029T>ACA381696111DHCR7c.285A>T (p.Lys95Asn)
c.111A>T (p.Lys37Asn)
n.562A>T
c.-301A>T (n.-301A>T)
c.189A>T (p.Lys63Asn)
11g.71444029T>CCA475520175DHCR7c.285A>G (p.Lys95=)
c.111A>G (p.Lys37=)
n.562A>G
c.-301A>G (n.-301A>G)
c.189A>G (p.Lys63=)
11g.71444029T>GCA381696115DHCR7c.285A>C (p.Lys95Asn)
c.111A>C (p.Lys37Asn)
n.562A>C
c.-301A>C (n.-301A>C)
c.189A>C (p.Lys63Asn)
 dbSNP
11g.71444029T=CA1981491027DHCR7c.285A= (p.Lys95=)
c.111A= (p.Lys37=)
n.562A=
c.-301A= (n.-301A=)
c.189A= (p.Lys63=)
11g.71444030T>ACA381696121DHCR7c.284A>T (p.Lys95Ile)
c.110A>T (p.Lys37Ile)
n.561A>T
c.-302A>T (n.-302A>T)
c.188A>T (p.Lys63Ile)
11g.71444030T>CCA381696129DHCR7c.284A>G (p.Lys95Arg)
c.110A>G (p.Lys37Arg)
n.561A>G
c.-302A>G (n.-302A>G)
c.188A>G (p.Lys63Arg)
11g.71444030T>GCA381696125DHCR7c.284A>C (p.Lys95Thr)
c.110A>C (p.Lys37Thr)
n.561A>C
c.-302A>C (n.-302A>C)
c.188A>C (p.Lys63Thr)
11g.71444031T>ACA381696134DHCR7c.283A>T (p.Lys95Ter)
c.109A>T (p.Lys37Ter)
n.560A>T
c.-303A>T (n.-303A>T)
c.187A>T (p.Lys63Ter)
11g.71444031T>CCA381696136DHCR7c.283A>G (p.Lys95Glu)
c.109A>G (p.Lys37Glu)
n.560A>G
c.-303A>G (n.-303A>G)
c.187A>G (p.Lys63Glu)
11g.71444031T>GCA381696138DHCR7c.283A>C (p.Lys95Gln)
c.109A>C (p.Lys37Gln)
n.560A>C
c.-303A>C (n.-303A>C)
c.187A>C (p.Lys63Gln)
11g.71444032C>ACA381696141DHCR7c.282G>T (p.Arg94Ser)
c.108G>T (p.Arg36Ser)
n.559G>T
c.-304G>T (n.-304G>T)
c.186G>T (p.Arg62Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.71444032C=CA1981491028DHCR7c.282G= (p.Arg94=)
c.108G= (p.Arg36=)
n.559G=
c.-304G= (n.-304G=)
c.186G= (p.Arg62=)
11g.71444032C>GCA381696144DHCR7c.282G>C (p.Arg94Ser)
c.108G>C (p.Arg36Ser)
n.559G>C
c.-304G>C (n.-304G>C)
c.186G>C (p.Arg62Ser)
11g.71444032C>TCA224280804DHCR7c.282G>A (p.Arg94=)
c.108G>A (p.Arg36=)
n.559G>A
c.-304G>A (n.-304G>A)
c.186G>A (p.Arg62=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71444033C>ACA381696149DHCR7c.281G>T (p.Arg94Met)
c.107G>T (p.Arg36Met)
n.558G>T
c.-305G>T (n.-305G>T)
c.185G>T (p.Arg62Met)
11g.71444033C>GCA381696152DHCR7c.281G>C (p.Arg94Thr)
c.107G>C (p.Arg36Thr)
n.558G>C
c.-305G>C (n.-305G>C)
c.185G>C (p.Arg62Thr)
11g.71444033C>TCA381696154DHCR7c.281G>A (p.Arg94Lys)
c.107G>A (p.Arg36Lys)
n.558G>A
c.-305G>A (n.-305G>A)
c.185G>A (p.Arg62Lys)
11g.71444034T>ACA381696157DHCR7c.280A>T (p.Arg94Trp)
c.106A>T (p.Arg36Trp)
c.106A>T
n.557A>T
c.-306A>T (n.-306A>T)
c.184A>T (p.Arg62Trp)
c.220A>T
11g.71444034T>CCA381696159DHCR7c.280A>G (p.Arg94Gly)
c.106A>G (p.Arg36Gly)
c.106A>G
n.557A>G
c.-306A>G (n.-306A>G)
c.184A>G (p.Arg62Gly)
c.220A>G
11g.71444034T>GCA475520201DHCR7c.280A>C (p.Arg94=)
c.106A>C (p.Arg36=)
c.106A>C
n.557A>C
c.-306A>C (n.-306A>C)
c.184A>C (p.Arg62=)
c.220A>C
11g.71444035C>ACA475520203DHCR7c.279G>T (p.Thr93=)
c.105G>T (p.Thr35=)
n.556G>T
c.-307G>T (n.-307G>T)
c.183G>T (p.Thr61=)
c.219G>T (p.Thr73=)
11g.71444035C=CA1981491029DHCR7c.279G= (p.Thr93=)
c.105G= (p.Thr35=)
n.556G=
c.-307G= (n.-307G=)
c.183G= (p.Thr61=)
c.219G= (p.Thr73=)
11g.71444035C>GCA475520206DHCR7c.279G>C (p.Thr93=)
c.105G>C (p.Thr35=)
n.556G>C
c.-307G>C (n.-307G>C)
c.183G>C (p.Thr61=)
c.219G>C (p.Thr73=)
11g.71444035C>TCA6162647DHCR7c.279G>A (p.Thr93=)
c.105G>A (p.Thr35=)
n.556G>A
c.-307G>A (n.-307G>A)
c.183G>A (p.Thr61=)
c.219G>A (p.Thr73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71444036G>ACA221665DHCR7c.278C>T (p.Thr93Met)
c.104C>T (p.Thr35Met)
n.555C>T
c.-308C>T (n.-308C>T)
c.182C>T (p.Thr61Met)
c.218C>T (p.Thr73Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444036G>CCA381696166DHCR7c.278C>G (p.Thr93Arg)
c.104C>G (p.Thr35Arg)
n.555C>G
c.-308C>G (n.-308C>G)
c.182C>G (p.Thr61Arg)
c.218C>G (p.Thr73Arg)
11g.71444036G=CA1981491030DHCR7c.278C= (p.Thr93=)
c.104C= (p.Thr35=)
n.555C=
c.-308C= (n.-308C=)
c.182C= (p.Thr61=)
c.218C= (p.Thr73=)
11g.71444036G>TCA381696172DHCR7c.278C>A (p.Thr93Lys)
c.104C>A (p.Thr35Lys)
n.555C>A
c.-308C>A (n.-308C>A)
c.182C>A (p.Thr61Lys)
c.218C>A (p.Thr73Lys)
 ClinVar
11g.71444037T>ACA381696176DHCR7c.277A>T (p.Thr93Ser)
c.103A>T (p.Thr35Ser)
n.554A>T
c.-309A>T (n.-309A>T)
c.181A>T (p.Thr61Ser)
c.217A>T (p.Thr73Ser)
11g.71444037T>CCA381696179DHCR7c.277A>G (p.Thr93Ala)
c.103A>G (p.Thr35Ala)
n.554A>G
c.-309A>G (n.-309A>G)
c.181A>G (p.Thr61Ala)
c.217A>G (p.Thr73Ala)
11g.71444037T>GCA381696182DHCR7c.277A>C (p.Thr93Pro)
c.103A>C (p.Thr35Pro)
n.554A>C
c.-309A>C (n.-309A>C)
c.181A>C (p.Thr61Pro)
c.217A>C (p.Thr73Pro)
11g.71444038T>ACA475520222DHCR7c.276A>T (p.Ile92=)
c.102A>T (p.Ile34=)
n.553A>T
c.-310A>T (n.-310A>T)
c.180A>T (p.Ile60=)
c.216A>T (p.Ile72=)
11g.71444038T>CCA381696196DHCR7c.276A>G (p.Ile92Met)
c.102A>G (p.Ile34Met)
n.553A>G
c.-310A>G (n.-310A>G)
c.180A>G (p.Ile60Met)
c.216A>G (p.Ile72Met)
11g.71444038T>GCA475520225DHCR7c.276A>C (p.Ile92=)
c.102A>C (p.Ile34=)
n.553A>C
c.-310A>C (n.-310A>C)
c.180A>C (p.Ile60=)
c.216A>C (p.Ile72=)
11g.71444039A>CCA381696198DHCR7c.275T>G (p.Ile92Arg)
c.101T>G (p.Ile34Arg)
n.552T>G
c.-311T>G (n.-311T>G)
c.179T>G (p.Ile60Arg)
c.215T>G (p.Ile72Arg)
11g.71444039A>GCA381696201DHCR7c.275T>C (p.Ile92Thr)
c.101T>C (p.Ile34Thr)
n.552T>C
c.-311T>C (n.-311T>C)
c.179T>C (p.Ile60Thr)
c.215T>C (p.Ile72Thr)
11g.71444039A>TCA381696204DHCR7c.275T>A (p.Ile92Lys)
c.101T>A (p.Ile34Lys)
n.552T>A
c.-311T>A (n.-311T>A)
c.179T>A (p.Ile60Lys)
c.215T>A (p.Ile72Lys)
 gnomAD v4
11g.71444040T>ACA381696207DHCR7c.274A>T (p.Ile92Leu)
c.100A>T (p.Ile34Leu)
n.551A>T
c.-312A>T (n.-312A>T)
c.178A>T (p.Ile60Leu)
c.214A>T (p.Ile72Leu)
11g.71444040T>CCA381696211DHCR7c.274A>G (p.Ile92Val)
c.100A>G (p.Ile34Val)
n.551A>G
c.-312A>G (n.-312A>G)
c.178A>G (p.Ile60Val)
c.214A>G (p.Ile72Val)
 gnomAD v4
11g.71444040T>GCA381696209DHCR7c.274A>C (p.Ile92Leu)
c.100A>C (p.Ile34Leu)
n.551A>C
c.-312A>C (n.-312A>C)
c.178A>C (p.Ile60Leu)
c.214A>C (p.Ile72Leu)
11g.71444041A=CA1981491031DHCR7c.273T= (p.Pro91=)
c.99T= (p.Pro33=)
n.550T=
c.-313T= (n.-313T=)
c.177T= (p.Pro59=)
c.213T= (p.Pro71=)
11g.71444041A>CCA475520240DHCR7c.273T>G (p.Pro91=)
c.99T>G (p.Pro33=)
n.550T>G
c.-313T>G (n.-313T>G)
c.177T>G (p.Pro59=)
c.213T>G (p.Pro71=)
11g.71444041A>GCA6162648DHCR7c.273T>C (p.Pro91=)
c.99T>C (p.Pro33=)
n.550T>C
c.-313T>C (n.-313T>C)
c.177T>C (p.Pro59=)
c.213T>C (p.Pro71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444041A>TCA475520242DHCR7c.273T>A (p.Pro91=)
c.99T>A (p.Pro33=)
n.550T>A
c.-313T>A (n.-313T>A)
c.177T>A (p.Pro59=)
c.213T>A (p.Pro71=)
 ClinVar dbSNP
11g.71444042G>ACA381696213DHCR7c.272C>T (p.Pro91Leu)
c.98C>T (p.Pro33Leu)
n.549C>T
c.-314C>T (n.-314C>T)
c.176C>T (p.Pro59Leu)
c.212C>T (p.Pro71Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.71444042G>CCA381696215DHCR7c.272C>G (p.Pro91Arg)
c.98C>G (p.Pro33Arg)
n.549C>G
c.-314C>G (n.-314C>G)
c.176C>G (p.Pro59Arg)
c.212C>G (p.Pro71Arg)
11g.71444042G=CA1981491032DHCR7c.272C= (p.Pro91=)
c.98C= (p.Pro33=)
n.549C=
c.-314C= (n.-314C=)
c.176C= (p.Pro59=)
c.212C= (p.Pro71=)
11g.71444042G>TCA381696216DHCR7c.272C>A (p.Pro91His)
c.98C>A (p.Pro33His)
n.549C>A
c.-314C>A (n.-314C>A)
c.176C>A (p.Pro59His)
c.212C>A (p.Pro71His)
11g.71444043G>ACA381696218DHCR7c.271C>T (p.Pro91Ser)
c.97C>T (p.Pro33Ser)
n.548C>T
c.-315C>T (n.-315C>T)
c.175C>T (p.Pro59Ser)
c.211C>T (p.Pro71Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444043G>CCA381696221DHCR7c.271C>G (p.Pro91Ala)
c.97C>G (p.Pro33Ala)
n.548C>G
c.-315C>G (n.-315C>G)
c.175C>G (p.Pro59Ala)
c.211C>G (p.Pro71Ala)
11g.71444043G=CA1981491033DHCR7c.271C= (p.Pro91=)
c.97C= (p.Pro33=)
n.548C=
c.-315C= (n.-315C=)
c.175C= (p.Pro59=)
c.211C= (p.Pro71=)
11g.71444043G>TCA381696220DHCR7c.271C>A (p.Pro91Thr)
c.97C>A (p.Pro33Thr)
n.548C>A
c.-315C>A (n.-315C>A)
c.175C>A (p.Pro59Thr)
c.211C>A (p.Pro71Thr)
11g.71444044T>ACA475520258DHCR7c.270A>T (p.Pro90=)
c.96A>T (p.Pro32=)
n.547A>T
c.-316A>T (n.-316A>T)
c.174A>T (p.Pro58=)
c.210A>T (p.Pro70=)
11g.71444044T>CCA475520261DHCR7c.270A>G (p.Pro90=)
c.96A>G (p.Pro32=)
n.547A>G
c.-316A>G (n.-316A>G)
c.174A>G (p.Pro58=)
c.210A>G (p.Pro70=)
 ClinVar dbSNP
11g.71444044T>GCA475520264DHCR7c.270A>C (p.Pro90=)
c.96A>C (p.Pro32=)
n.547A>C
c.-316A>C (n.-316A>C)
c.174A>C (p.Pro58=)
c.210A>C (p.Pro70=)
11g.71444044T=CA1981491034DHCR7c.270A= (p.Pro90=)
c.96A= (p.Pro32=)
n.547A=
c.-316A= (n.-316A=)
c.174A= (p.Pro58=)
c.210A= (p.Pro70=)
11g.71444045G>ACA381696223DHCR7c.269C>T (p.Pro90Leu)
c.95C>T (p.Pro32Leu)
n.546C>T
c.-317C>T (n.-317C>T)
c.173C>T (p.Pro58Leu)
c.209C>T (p.Pro70Leu)
11g.71444045G>CCA381696225DHCR7c.269C>G (p.Pro90Arg)
c.95C>G (p.Pro32Arg)
n.546C>G
c.-317C>G (n.-317C>G)
c.173C>G (p.Pro58Arg)
c.209C>G (p.Pro70Arg)
11g.71444045G>TCA381696227DHCR7c.269C>A (p.Pro90Gln)
c.95C>A (p.Pro32Gln)
n.546C>A
c.-317C>A (n.-317C>A)
c.173C>A (p.Pro58Gln)
c.209C>A (p.Pro70Gln)
11g.71444046G>ACA6162649DHCR7c.268C>T (p.Pro90Ser)
c.94C>T (p.Pro32Ser)
n.545C>T
c.-318C>T (n.-318C>T)
c.172C>T (p.Pro58Ser)
c.208C>T (p.Pro70Ser)
 dbSNP ExAC gnomAD v2
11g.71444046G>CCA381696230DHCR7c.268C>G (p.Pro90Ala)
c.94C>G (p.Pro32Ala)
n.545C>G
c.-318C>G (n.-318C>G)
c.172C>G (p.Pro58Ala)
c.208C>G (p.Pro70Ala)
11g.71444046G=CA1981491035DHCR7c.268C= (p.Pro90=)
c.94C= (p.Pro32=)
n.545C=
c.-318C= (n.-318C=)
c.172C= (p.Pro58=)
c.208C= (p.Pro70=)
11g.71444046G>TCA381696234DHCR7c.268C>A (p.Pro90Thr)
c.94C>A (p.Pro32Thr)
n.545C>A
c.-318C>A (n.-318C>A)
c.172C>A (p.Pro58Thr)
c.208C>A (p.Pro70Thr)
11g.71444047A=CA1981491036DHCR7c.267T= (p.Thr89=)
c.93T= (p.Thr31=)
n.544T=
c.-319T= (n.-319T=)
c.171T= (p.Thr57=)
c.207T= (p.Thr69=)
11g.71444047A>CCA475520277DHCR7c.267T>G (p.Thr89=)
c.93T>G (p.Thr31=)
n.544T>G
c.-319T>G (n.-319T>G)
c.171T>G (p.Thr57=)
c.207T>G (p.Thr69=)
 gnomAD v4
11g.71444047A>GCA6162650DHCR7c.267T>C (p.Thr89=)
c.93T>C (p.Thr31=)
n.544T>C
c.-319T>C (n.-319T>C)
c.171T>C (p.Thr57=)
c.207T>C (p.Thr69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444047A>TCA475520280DHCR7c.267T>A (p.Thr89=)
c.93T>A (p.Thr31=)
n.544T>A
c.-319T>A (n.-319T>A)
c.171T>A (p.Thr57=)
c.207T>A (p.Thr69=)
 dbSNP
11g.71444048delCA2697548793DHCR7c.266del (p.Thr89IlefsTer4)
c.92del (p.Thr31IlefsTer4)
n.543del
c.-320del (n.-320del)
c.170del (p.Thr57IlefsTer4)
c.266del (p.Thr89IlefsTer?)
c.206del (p.Thr69IlefsTer4)
 ClinVar
11g.71444048G>ACA381696237DHCR7c.266C>T (p.Thr89Ile)
c.92C>T (p.Thr31Ile)
n.543C>T
c.-320C>T (n.-320C>T)
c.170C>T (p.Thr57Ile)
c.206C>T (p.Thr69Ile)
11g.71444048G>CCA381696238DHCR7c.266C>G (p.Thr89Ser)
c.92C>G (p.Thr31Ser)
n.543C>G
c.-320C>G (n.-320C>G)
c.170C>G (p.Thr57Ser)
c.206C>G (p.Thr69Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.71444048G=CA1981491037DHCR7c.266C= (p.Thr89=)
c.92C= (p.Thr31=)
n.543C=
c.-320C= (n.-320C=)
c.170C= (p.Thr57=)
c.206C= (p.Thr69=)
11g.71444048G>TCA381696240DHCR7c.266C>A (p.Thr89Asn)
c.92C>A (p.Thr31Asn)
n.543C>A
c.-320C>A (n.-320C>A)
c.170C>A (p.Thr57Asn)
c.206C>A (p.Thr69Asn)
11g.71444049T>ACA224280811DHCR7c.265A>T (p.Thr89Ser)
c.91A>T (p.Thr31Ser)
n.542A>T
c.-321A>T (n.-321A>T)
c.169A>T (p.Thr57Ser)
c.205A>T (p.Thr69Ser)
 dbSNP
11g.71444049T>CCA224280813DHCR7c.265A>G (p.Thr89Ala)
c.91A>G (p.Thr31Ala)
n.542A>G
c.-321A>G (n.-321A>G)
c.169A>G (p.Thr57Ala)
c.205A>G (p.Thr69Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.71444049T>GCA381696243DHCR7c.265A>C (p.Thr89Pro)
c.91A>C (p.Thr31Pro)
n.542A>C
c.-321A>C (n.-321A>C)
c.169A>C (p.Thr57Pro)
c.205A>C (p.Thr69Pro)
11g.71444049T=CA1981491038DHCR7c.265A= (p.Thr89=)
c.91A= (p.Thr31=)
n.542A=
c.-321A= (n.-321A=)
c.169A= (p.Thr57=)
c.205A= (p.Thr69=)
11g.71444050C>ACA381696248DHCR7c.264G>T (p.Lys88Asn)
c.90G>T (p.Lys30Asn)
n.541G>T
c.-322G>T (n.-322G>T)
c.168G>T (p.Lys56Asn)
c.204G>T (p.Lys68Asn)
11g.71444050C>GCA381696250DHCR7c.264G>C (p.Lys88Asn)
c.90G>C (p.Lys30Asn)
n.541G>C
c.-322G>C (n.-322G>C)
c.168G>C (p.Lys56Asn)
c.204G>C (p.Lys68Asn)
 COSMIC COSMIC
11g.71444050C>TCA475520307DHCR7c.264G>A (p.Lys88=)
c.90G>A (p.Lys30=)
n.541G>A
c.-322G>A (n.-322G>A)
c.168G>A (p.Lys56=)
c.204G>A (p.Lys68=)
11g.71444051T>ACA381696251DHCR7c.263A>T (p.Lys88Met)
c.89A>T (p.Lys30Met)
n.540A>T
c.-323A>T (n.-323A>T)
c.167A>T (p.Lys56Met)
c.203A>T (p.Lys68Met)
11g.71444051T>CCA381696253DHCR7c.263A>G (p.Lys88Arg)
c.89A>G (p.Lys30Arg)
n.540A>G
c.-323A>G (n.-323A>G)
c.167A>G (p.Lys56Arg)
c.203A>G (p.Lys68Arg)
 COSMIC COSMIC
11g.71444051T>GCA381696254DHCR7c.263A>C (p.Lys88Thr)
c.89A>C (p.Lys30Thr)
n.540A>C
c.-323A>C (n.-323A>C)
c.167A>C (p.Lys56Thr)
c.203A>C (p.Lys68Thr)
11g.71444052T>ACA381696259DHCR7c.262A>T (p.Lys88Ter)
c.88A>T (p.Lys30Ter)
n.539A>T
c.-324A>T (n.-324A>T)
c.166A>T (p.Lys56Ter)
c.202A>T (p.Lys68Ter)
11g.71444052T>CCA381696258DHCR7c.262A>G (p.Lys88Glu)
c.88A>G (p.Lys30Glu)
n.539A>G
c.-324A>G (n.-324A>G)
c.166A>G (p.Lys56Glu)
c.202A>G (p.Lys68Glu)
 gnomAD v4
11g.71444052T>GCA381696257DHCR7c.262A>C (p.Lys88Gln)
c.88A>C (p.Lys30Gln)
n.539A>C
c.-324A>C (n.-324A>C)
c.166A>C (p.Lys56Gln)
c.202A>C (p.Lys68Gln)
11g.71444053G>ACA475520320DHCR7c.261C>T (p.Ala87=)
c.87C>T (p.Ala29=)
n.538C>T
c.-325C>T (n.-325C>T)
c.165C>T (p.Ala55=)
c.201C>T (p.Ala67=)
11g.71444053G>CCA475520322DHCR7c.261C>G (p.Ala87=)
c.87C>G (p.Ala29=)
n.538C>G
c.-325C>G (n.-325C>G)
c.165C>G (p.Ala55=)
c.201C>G (p.Ala67=)
11g.71444053G=CA1981491039DHCR7c.261C= (p.Ala87=)
c.87C= (p.Ala29=)
n.538C=
c.-325C= (n.-325C=)
c.165C= (p.Ala55=)
c.201C= (p.Ala67=)
11g.71444053G>TCA475520325DHCR7c.261C>A (p.Ala87=)
c.87C>A (p.Ala29=)
n.538C>A
c.-325C>A (n.-325C>A)
c.165C>A (p.Ala55=)
c.201C>A (p.Ala67=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444054G>ACA381696262DHCR7c.260C>T (p.Ala87Val)
c.86C>T (p.Ala29Val)
n.537C>T
c.-326C>T (n.-326C>T)
c.164C>T (p.Ala55Val)
c.200C>T (p.Ala67Val)
 gnomAD v4
11g.71444054G>CCA381696263DHCR7c.260C>G (p.Ala87Gly)
c.86C>G (p.Ala29Gly)
n.537C>G
c.-326C>G (n.-326C>G)
c.164C>G (p.Ala55Gly)
c.200C>G (p.Ala67Gly)
11g.71444054G>TCA381696265DHCR7c.260C>A (p.Ala87Asp)
c.86C>A (p.Ala29Asp)
n.537C>A
c.-326C>A (n.-326C>A)
c.164C>A (p.Ala55Asp)
c.200C>A (p.Ala67Asp)
11g.71444055C>ACA381696266DHCR7c.259G>T (p.Ala87Ser)
c.85G>T (p.Ala29Ser)
n.536G>T
c.-327G>T (n.-327G>T)
c.163G>T (p.Ala55Ser)
c.199G>T (p.Ala67Ser)
11g.71444055C>GCA381696267DHCR7c.259G>C (p.Ala87Pro)
c.85G>C (p.Ala29Pro)
n.536G>C
c.-327G>C (n.-327G>C)
c.163G>C (p.Ala55Pro)
c.199G>C (p.Ala67Pro)
11g.71444055C>TCA381696268DHCR7c.259G>A (p.Ala87Thr)
c.85G>A (p.Ala29Thr)
n.536G>A
c.-327G>A (n.-327G>A)
c.163G>A (p.Ala55Thr)
c.199G>A (p.Ala67Thr)
11g.71444056C>ACA381696271DHCR7c.258G>T (p.Trp86Cys)
c.84G>T (p.Trp28Cys)
n.535G>T
c.-328G>T (n.-328G>T)
c.162G>T (p.Trp54Cys)
c.198G>T (p.Trp66Cys)
11g.71444056C>GCA381696274DHCR7c.258G>C (p.Trp86Cys)
c.84G>C (p.Trp28Cys)
n.535G>C
c.-328G>C (n.-328G>C)
c.162G>C (p.Trp54Cys)
c.198G>C (p.Trp66Cys)
11g.71444056C>TCA381696273DHCR7c.258G>A (p.Trp86Ter)
c.84G>A (p.Trp28Ter)
n.535G>A
c.-328G>A (n.-328G>A)
c.162G>A (p.Trp54Ter)
c.198G>A (p.Trp66Ter)
11g.71444057C>ACA381696276DHCR7c.257G>T (p.Trp86Leu)
c.83G>T (p.Trp28Leu)
n.534G>T
c.-329G>T (n.-329G>T)
c.161G>T (p.Trp54Leu)
c.197G>T (p.Trp66Leu)
11g.71444057C>GCA381696278DHCR7c.257G>C (p.Trp86Ser)
c.83G>C (p.Trp28Ser)
n.534G>C
c.-329G>C (n.-329G>C)
c.161G>C (p.Trp54Ser)
c.197G>C (p.Trp66Ser)
11g.71444057C>TCA381696279DHCR7c.257G>A (p.Trp86Ter)
c.83G>A (p.Trp28Ter)
n.534G>A
c.-329G>A (n.-329G>A)
c.161G>A (p.Trp54Ter)
c.197G>A (p.Trp66Ter)
11g.71444058A>CCA381696281DHCR7c.256T>G (p.Trp86Gly)
c.82T>G (p.Trp28Gly)
n.533T>G
c.-330T>G (n.-330T>G)
c.160T>G (p.Trp54Gly)
c.196T>G (p.Trp66Gly)
11g.71444058A>GCA381696283DHCR7c.256T>C (p.Trp86Arg)
c.82T>C (p.Trp28Arg)
n.533T>C
c.-330T>C (n.-330T>C)
c.160T>C (p.Trp54Arg)
c.196T>C (p.Trp66Arg)
11g.71444058A>TCA381696285DHCR7c.256T>A (p.Trp86Arg)
c.82T>A (p.Trp28Arg)
n.533T>A
c.-330T>A (n.-330T>A)
c.160T>A (p.Trp54Arg)
c.196T>A (p.Trp66Arg)
11g.71444059G>ACA224280815DHCR7c.255C>T (p.Ile85=)
c.81C>T (p.Ile27=)
n.532C>T
c.-331C>T (n.-331C>T)
c.159C>T (p.Ile53=)
c.195C>T (p.Ile65=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444059G>CCA381696287DHCR7c.255C>G (p.Ile85Met)
c.81C>G (p.Ile27Met)
n.532C>G
c.-331C>G (n.-331C>G)
c.159C>G (p.Ile53Met)
c.195C>G (p.Ile65Met)
11g.71444059G=CA1981491040DHCR7c.255C= (p.Ile85=)
c.81C= (p.Ile27=)
n.532C=
c.-331C= (n.-331C=)
c.159C= (p.Ile53=)
c.195C= (p.Ile65=)
11g.71444059G>TCA475520363DHCR7c.255C>A (p.Ile85=)
c.81C>A (p.Ile27=)
n.532C>A
c.-331C>A (n.-331C>A)
c.159C>A (p.Ile53=)
c.195C>A (p.Ile65=)
11g.71444060A>CCA381696290DHCR7c.254T>G (p.Ile85Ser)
c.80T>G (p.Ile27Ser)
n.531T>G
c.-332T>G (n.-332T>G)
c.158T>G (p.Ile53Ser)
c.194T>G (p.Ile65Ser)
 COSMIC COSMIC
11g.71444060A>GCA381696292DHCR7c.254T>C (p.Ile85Thr)
c.80T>C (p.Ile27Thr)
n.531T>C
c.-332T>C (n.-332T>C)
c.158T>C (p.Ile53Thr)
c.194T>C (p.Ile65Thr)
11g.71444060A>TCA381696295DHCR7c.254T>A (p.Ile85Asn)
c.80T>A (p.Ile27Asn)
n.531T>A
c.-332T>A (n.-332T>A)
c.158T>A (p.Ile53Asn)
c.194T>A (p.Ile65Asn)
11g.71444061T>ACA381696303DHCR7c.253A>T (p.Ile85Phe)
c.79A>T (p.Ile27Phe)
n.530A>T
c.-333A>T (n.-333A>T)
c.157A>T (p.Ile53Phe)
c.193A>T (p.Ile65Phe)
11g.71444061T>CCA381696299DHCR7c.253A>G (p.Ile85Val)
c.79A>G (p.Ile27Val)
n.530A>G
c.-333A>G (n.-333A>G)
c.157A>G (p.Ile53Val)
c.193A>G (p.Ile65Val)
 gnomAD v4
11g.71444061T>GCA381696297DHCR7c.253A>C (p.Ile85Leu)
c.79A>C (p.Ile27Leu)
n.530A>C
c.-333A>C (n.-333A>C)
c.157A>C (p.Ile53Leu)
c.193A>C (p.Ile65Leu)
11g.71444062G>ACA6162651DHCR7c.252C>T (p.Asp84=)
c.78C>T (p.Asp26=)
n.529C>T
c.-333-1C>T (n.-333-1C>T)
c.156C>T (p.Asp52=)
c.192C>T (p.Asp64=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444062G>CCA381696309DHCR7c.252C>G (p.Asp84Glu)
c.78C>G (p.Asp26Glu)
n.529C>G
c.-333-1C>G (n.-333-1C>G)
c.156C>G (p.Asp52Glu)
c.192C>G (p.Asp64Glu)
11g.71444062G=CA1981491041DHCR7c.252C= (p.Asp84=)
c.78C= (p.Asp26=)
n.529C=
c.-333-1C= (n.-333-1C=)
c.156C= (p.Asp52=)
c.192C= (p.Asp64=)
11g.71444062G>TCA381696306DHCR7c.252C>A (p.Asp84Glu)
c.78C>A (p.Asp26Glu)
n.529C>A
c.-333-1C>A (n.-333-1C>A)
c.156C>A (p.Asp52Glu)
c.192C>A (p.Asp64Glu)
11g.71444063T>ACA381696312DHCR7c.251A>T (p.Asp84Val)
c.77A>T (p.Asp26Val)
n.528A>T
c.-333-2A>T (n.-333-2A>T)
c.155A>T (p.Asp52Val)
c.191A>T (p.Asp64Val)
11g.71444063T>CCA6162652DHCR7c.251A>G (p.Asp84Gly)
c.77A>G (p.Asp26Gly)
n.528A>G
c.-333-2A>G (n.-333-2A>G)
c.155A>G (p.Asp52Gly)
c.191A>G (p.Asp64Gly)
 dbSNP ExAC
11g.71444063T>GCA381696314DHCR7c.251A>C (p.Asp84Ala)
c.77A>C (p.Asp26Ala)
n.528A>C
c.-333-2A>C (n.-333-2A>C)
c.155A>C (p.Asp52Ala)
c.191A>C (p.Asp64Ala)
11g.71444063T=CA1981491042DHCR7c.251A= (p.Asp84=)
c.77A= (p.Asp26=)
n.528A=
c.-333-2A= (n.-333-2A=)
c.155A= (p.Asp52=)
c.191A= (p.Asp64=)
11g.71444064C>ACA381696318DHCR7c.250G>T (p.Asp84Tyr)
c.76G>T (p.Asp26Tyr)
n.527G>T
c.-333-3G>T (n.-333-3G>T)
c.154G>T (p.Asp52Tyr)
c.190G>T (p.Asp64Tyr)
11g.71444064C>GCA381696322DHCR7c.250G>C (p.Asp84His)
c.76G>C (p.Asp26His)
n.527G>C
c.-333-3G>C (n.-333-3G>C)
c.154G>C (p.Asp52His)
c.190G>C (p.Asp64His)
11g.71444064C>TCA381696320DHCR7c.250G>A (p.Asp84Asn)
c.76G>A (p.Asp26Asn)
n.527G>A
c.-333-3G>A (n.-333-3G>A)
c.154G>A (p.Asp52Asn)
c.190G>A (p.Asp64Asn)
11g.71444065C>ACA475520395DHCR7c.249G>T (p.Ser83=)
c.75G>T (p.Ser25=)
n.526G>T
c.-333-4G>T (n.-333-4G>T)
c.153G>T (p.Ser51=)
c.189G>T (p.Ser63=)
 dbSNP
11g.71444065C=CA1981491043DHCR7c.249G= (p.Ser83=)
c.75G= (p.Ser25=)
n.526G=
c.-333-4G= (n.-333-4G=)
c.153G= (p.Ser51=)
c.189G= (p.Ser63=)
11g.71444065C>GCA475520392DHCR7c.249G>C (p.Ser83=)
c.75G>C (p.Ser25=)
n.526G>C
c.-333-4G>C (n.-333-4G>C)
c.153G>C (p.Ser51=)
c.189G>C (p.Ser63=)
11g.71444065C>TCA6162653DHCR7c.249G>A (p.Ser83=)
c.75G>A (p.Ser25=)
n.526G>A
c.-333-4G>A (n.-333-4G>A)
c.153G>A (p.Ser51=)
c.189G>A (p.Ser63=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444066G>ACA6162654DHCR7c.248C>T (p.Ser83Leu)
c.74C>T (p.Ser25Leu)
n.525C>T
c.-333-5C>T (n.-333-5C>T)
c.152C>T (p.Ser51Leu)
c.188C>T (p.Ser63Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71444066G>CCA381696326DHCR7c.248C>G (p.Ser83Trp)
c.74C>G (p.Ser25Trp)
n.525C>G
c.-333-5C>G (n.-333-5C>G)
c.152C>G (p.Ser51Trp)
c.188C>G (p.Ser63Trp)
11g.71444066G=CA1981491044DHCR7c.248C= (p.Ser83=)
c.74C= (p.Ser25=)
n.525C=
c.-333-5C= (n.-333-5C=)
c.152C= (p.Ser51=)
c.188C= (p.Ser63=)
11g.71444066G>TCA381696328DHCR7c.248C>A (p.Ser83Ter)
c.74C>A (p.Ser25Ter)
n.525C>A
c.-333-5C>A (n.-333-5C>A)
c.152C>A (p.Ser51Ter)
c.188C>A (p.Ser63Ter)
 ClinVar
11g.71444067A>CCA381696331DHCR7c.247T>G (p.Ser83Ala)
c.73T>G (p.Ser25Ala)
n.524T>G
c.-333-6T>G (n.-333-6T>G)
c.151T>G (p.Ser51Ala)
c.187T>G (p.Ser63Ala)
11g.71444067A>GCA381696333DHCR7c.247T>C (p.Ser83Pro)
c.73T>C (p.Ser25Pro)
n.524T>C
c.-333-6T>C (n.-333-6T>C)
c.151T>C (p.Ser51Pro)
c.187T>C (p.Ser63Pro)
11g.71444067A>TCA381696335DHCR7c.247T>A (p.Ser83Thr)
c.73T>A (p.Ser25Thr)
n.524T>A
c.-333-6T>A (n.-333-6T>A)
c.151T>A (p.Ser51Thr)
c.187T>A (p.Ser63Thr)
11g.71444068G>ACA475520410DHCR7c.246C>T (p.Leu82=)
c.72C>T (p.Leu24=)
n.523C>T
c.-333-7C>T (n.-333-7C>T)
c.150C>T (p.Leu50=)
c.186C>T (p.Leu62=)
11g.71444068G>CCA475520415DHCR7c.246C>G (p.Leu82=)
c.72C>G (p.Leu24=)
n.523C>G
c.-333-7C>G (n.-333-7C>G)
c.150C>G (p.Leu50=)
c.186C>G (p.Leu62=)
 ClinVar dbSNP gnomAD v4
11g.71444068G>TCA475520412DHCR7c.246C>A (p.Leu82=)
c.72C>A (p.Leu24=)
n.523C>A
c.-333-7C>A (n.-333-7C>A)
c.150C>A (p.Leu50=)
c.186C>A (p.Leu62=)
 gnomAD v4
11g.71444069A>CCA381696339DHCR7c.245T>G (p.Leu82Arg)
c.71T>G (p.Leu24Arg)
n.522T>G
c.-333-8T>G (n.-333-8T>G)
c.149T>G (p.Leu50Arg)
c.185T>G (p.Leu62Arg)
11g.71444069A>GCA381696341DHCR7c.245T>C (p.Leu82Pro)
c.71T>C (p.Leu24Pro)
n.522T>C
c.-333-8T>C (n.-333-8T>C)
c.149T>C (p.Leu50Pro)
c.185T>C (p.Leu62Pro)
11g.71444069A>TCA381696343DHCR7c.245T>A (p.Leu82His)
c.71T>A (p.Leu24His)
n.522T>A
c.-333-8T>A (n.-333-8T>A)
c.149T>A (p.Leu50His)
c.185T>A (p.Leu62His)
11g.71444070G>ACA224280824DHCR7c.244C>T (p.Leu82Phe)
c.70C>T (p.Leu24Phe)
n.521C>T
c.-333-9C>T (n.-333-9C>T)
c.148C>T (p.Leu50Phe)
c.184C>T (p.Leu62Phe)
 dbSNP
11g.71444070G>CCA381696347DHCR7c.244C>G (p.Leu82Val)
c.70C>G (p.Leu24Val)
n.521C>G
c.-333-9C>G (n.-333-9C>G)
c.148C>G (p.Leu50Val)
c.184C>G (p.Leu62Val)
11g.71444070G=CA1981491045DHCR7c.244C= (p.Leu82=)
c.70C= (p.Leu24=)
n.521C=
c.-333-9C= (n.-333-9C=)
c.148C= (p.Leu50=)
c.184C= (p.Leu62=)
11g.71444070G>TCA381696345DHCR7c.244C>A (p.Leu82Ile)
c.70C>A (p.Leu24Ile)
n.521C>A
c.-333-9C>A (n.-333-9C>A)
c.148C>A (p.Leu50Ile)
c.184C>A (p.Leu62Ile)
11g.71444071C>ACA475520425DHCR7c.243G>T (p.Arg81=)
c.69G>T (p.Arg23=)
n.520G>T
c.-333-10G>T (n.-333-10G>T)
c.147G>T (p.Arg49=)
c.183G>T (p.Arg61=)
 gnomAD v4
11g.71444071C>GCA475520426DHCR7c.243G>C (p.Arg81=)
c.69G>C (p.Arg23=)
n.520G>C
c.-333-10G>C (n.-333-10G>C)
c.147G>C (p.Arg49=)
c.183G>C (p.Arg61=)
11g.71444071C>TCA475520429DHCR7c.243G>A (p.Arg81=)
c.69G>A (p.Arg23=)
n.520G>A
c.-333-10G>A (n.-333-10G>A)
c.147G>A (p.Arg49=)
c.183G>A (p.Arg61=)
 gnomAD v4
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)
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)

Number of alleles fetched