Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71443985del | CA2499221292 | DHCR7 | c.321+8del (n.321+8del) c.147+8del (n.147+8del) c.329del (p.Ser110ThrfsTer29) n.598+8del c.-265+8del (n.-265+8del) c.225+8del (n.225+8del) | ClinVar dbSNP |
11 | g.71443985C>A | CA2499221291 | DHCR7 | c.321+8G>T (n.321+8G>T) c.147+8G>T (n.147+8G>T) c.329G>T (p.Ser110Ile) n.598+8G>T c.-265+8G>T (n.-265+8G>T) c.225+8G>T (n.225+8G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.71443985C>G | CA2739373811 | DHCR7 | c.321+8G>C (n.321+8G>C) c.147+8G>C (n.147+8G>C) c.329G>C (p.Ser110Thr) n.598+8G>C c.-265+8G>C (n.-265+8G>C) c.225+8G>C (n.225+8G>C) | |
11 | g.71443985C>T | CA2739373812 | DHCR7 | c.321+8G>A (n.321+8G>A) c.147+8G>A (n.147+8G>A) c.329G>A (p.Ser110Asn) n.598+8G>A c.-265+8G>A (n.-265+8G>A) c.225+8G>A (n.225+8G>A) | |
11 | g.71443986T>A | CA2739373813 | DHCR7 | c.321+7A>T (n.321+7A>T) c.147+7A>T (n.147+7A>T) c.328A>T (p.Ser110Cys) n.598+7A>T c.-265+7A>T (n.-265+7A>T) c.225+7A>T (n.225+7A>T) | |
11 | g.71443986T>C | CA2739373814 | DHCR7 | c.321+7A>G (n.321+7A>G) c.147+7A>G (n.147+7A>G) c.328A>G (p.Ser110Gly) n.598+7A>G c.-265+7A>G (n.-265+7A>G) c.225+7A>G (n.225+7A>G) | |
11 | g.71443986T>G | CA2739373815 | DHCR7 | c.321+7A>C (n.321+7A>C) c.147+7A>C (n.147+7A>C) c.328A>C (p.Ser110Arg) n.598+7A>C c.-265+7A>C (n.-265+7A>C) c.225+7A>C (n.225+7A>C) | |
11 | g.71443987G>A | CA2614862901 | DHCR7 | c.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 |
11 | g.71443987G>C | CA2739373816 | DHCR7 | c.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) | |
11 | g.71443987G>T | CA2739373817 | DHCR7 | c.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) | |
11 | g.71443988C>A | CA2739373820 | DHCR7 | c.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) | |
11 | g.71443988C>G | CA2739373819 | DHCR7 | c.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) | |
11 | g.71443988C>T | CA2739373818 | DHCR7 | c.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) | |
11 | g.71443989T>A | CA600241286 | DHCR7 | c.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 |
11 | g.71443989T>C | CA2739373821 | DHCR7 | c.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) | |
11 | g.71443989T>G | CA2739373822 | DHCR7 | c.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) | |
11 | g.71443989T= | CA1981491007 | DHCR7 | c.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=) | |
11 | g.71443990G>C | CA2614862902 | DHCR7 | c.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 |
11 | g.71443990G>T | CA2614862908 | DHCR7 | c.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 |
11 | g.71443991A>C | CA381695845 | DHCR7 | c.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) | |
11 | g.71443991A>G | CA381695848 | DHCR7 | c.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) | |
11 | g.71443991A>T | CA381695846 | DHCR7 | c.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) | |
11 | g.71443992C>A | CA381695850 | DHCR7 | c.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 |
11 | g.71443992C>G | CA381695852 | DHCR7 | c.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) | |
11 | g.71443992C>T | CA381695853 | DHCR7 | c.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) | |
11 | g.71443993C>A | CA381695854 | DHCR7 | c.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 |
11 | g.71443993C= | CA1981491008 | DHCR7 | c.321G= (p.Gln107=) c.147G= (p.Gln49=) n.598G= c.-265G= (n.-265G=) c.225G= (p.Gln75=) | |
11 | g.71443993C>G | CA6162641 | DHCR7 | c.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 |
11 | g.71443993C>T | CA475519971 | DHCR7 | c.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 |
11 | g.71443994T>A | CA381695857 | DHCR7 | c.320A>T (p.Gln107Leu) c.146A>T (p.Gln49Leu) n.597A>T c.-266A>T (n.-266A>T) c.224A>T (p.Gln75Leu) | |
11 | g.71443994T>C | CA381695859 | DHCR7 | c.320A>G (p.Gln107Arg) c.146A>G (p.Gln49Arg) n.597A>G c.-266A>G (n.-266A>G) c.224A>G (p.Gln75Arg) | |
11 | g.71443994T>G | CA381695860 | DHCR7 | c.320A>C (p.Gln107Pro) c.146A>C (p.Gln49Pro) n.597A>C c.-266A>C (n.-266A>C) c.224A>C (p.Gln75Pro) | |
11 | g.71443995G>A | CA381695863 | DHCR7 | c.319C>T (p.Gln107Ter) c.145C>T (p.Gln49Ter) n.596C>T c.-267C>T (n.-267C>T) c.223C>T (p.Gln75Ter) | |
11 | g.71443995G>C | CA381695866 | DHCR7 | c.319C>G (p.Gln107Glu) c.145C>G (p.Gln49Glu) n.596C>G c.-267C>G (n.-267C>G) c.223C>G (p.Gln75Glu) | |
11 | g.71443995G>T | CA381695868 | DHCR7 | c.319C>A (p.Gln107Lys) c.145C>A (p.Gln49Lys) n.596C>A c.-267C>A (n.-267C>A) c.223C>A (p.Gln75Lys) | |
11 | g.71443996G>A | CA475519984 | DHCR7 | c.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 |
11 | g.71443996G>C | CA381695874 | DHCR7 | c.318C>G (p.Phe106Leu) c.144C>G (p.Phe48Leu) n.595C>G c.-268C>G (n.-268C>G) c.222C>G (p.Phe74Leu) | |
11 | g.71443996G= | CA1981491009 | DHCR7 | c.318C= (p.Phe106=) c.144C= (p.Phe48=) n.595C= c.-268C= (n.-268C=) c.222C= (p.Phe74=) | |
11 | g.71443996G>T | CA381695870 | DHCR7 | c.318C>A (p.Phe106Leu) c.144C>A (p.Phe48Leu) n.595C>A c.-268C>A (n.-268C>A) c.222C>A (p.Phe74Leu) | |
11 | g.71443997A= | CA1981491010 | DHCR7 | c.317T= (p.Phe106=) c.143T= (p.Phe48=) n.594T= c.-269T= (n.-269T=) c.221T= (p.Phe74=) c.317T= | |
11 | g.71443997A>C | CA381695876 | DHCR7 | c.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 |
11 | g.71443997A>G | CA381695877 | DHCR7 | c.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 |
11 | g.71443997A>T | CA224280797 | DHCR7 | c.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 |
11 | g.71443998A>C | CA381695878 | DHCR7 | c.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 | |
11 | g.71443998A>G | CA381695879 | DHCR7 | c.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 | |
11 | g.71443998A>T | CA381695881 | DHCR7 | c.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 | |
11 | g.71443999G>A | CA475519998 | DHCR7 | c.315C>T (p.Thr105=) c.141C>T (p.Thr47=) n.592C>T c.-271C>T (n.-271C>T) c.219C>T (p.Thr73=) | ClinVar |
11 | g.71443999G>C | CA475520003 | DHCR7 | c.315C>G (p.Thr105=) c.141C>G (p.Thr47=) n.592C>G c.-271C>G (n.-271C>G) c.219C>G (p.Thr73=) | |
11 | g.71443999G>T | CA475520000 | DHCR7 | c.315C>A (p.Thr105=) c.141C>A (p.Thr47=) n.592C>A c.-271C>A (n.-271C>A) c.219C>A (p.Thr73=) | |
11 | g.71444000G>A | CA381695888 | DHCR7 | c.314C>T (p.Thr105Ile) c.140C>T (p.Thr47Ile) n.591C>T c.-272C>T (n.-272C>T) c.218C>T (p.Thr73Ile) | |
11 | g.71444000G>C | CA381695886 | DHCR7 | c.314C>G (p.Thr105Ser) c.140C>G (p.Thr47Ser) n.591C>G c.-272C>G (n.-272C>G) c.218C>G (p.Thr73Ser) | |
11 | g.71444000G= | CA1981491011 | DHCR7 | c.314C= (p.Thr105=) c.140C= (p.Thr47=) n.591C= c.-272C= (n.-272C=) c.218C= (p.Thr73=) | |
11 | g.71444000G>T | CA381695884 | DHCR7 | c.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 |
11 | g.71444001T>A | CA381695890 | DHCR7 | c.313A>T (p.Thr105Ser) c.139A>T (p.Thr47Ser) n.590A>T c.-273A>T (n.-273A>T) c.217A>T (p.Thr73Ser) | |
11 | g.71444001T>C | CA381695892 | DHCR7 | c.313A>G (p.Thr105Ala) c.139A>G (p.Thr47Ala) n.590A>G c.-273A>G (n.-273A>G) c.217A>G (p.Thr73Ala) | |
11 | g.71444001T>G | CA381695894 | DHCR7 | c.313A>C (p.Thr105Pro) c.139A>C (p.Thr47Pro) n.590A>C c.-273A>C (n.-273A>C) c.217A>C (p.Thr73Pro) | |
11 | g.71444002G>A | CA475520017 | DHCR7 | c.312C>T (p.Val104=) c.138C>T (p.Val46=) n.589C>T c.-274C>T (n.-274C>T) c.216C>T (p.Val72=) | |
11 | g.71444002G>C | CA475520019 | DHCR7 | c.312C>G (p.Val104=) c.138C>G (p.Val46=) n.589C>G c.-274C>G (n.-274C>G) c.216C>G (p.Val72=) | |
11 | g.71444002G>T | CA475520021 | DHCR7 | c.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 |
11 | g.71444003A>C | CA381695896 | DHCR7 | c.311T>G (p.Val104Gly) c.137T>G (p.Val46Gly) n.588T>G c.-275T>G (n.-275T>G) c.215T>G (p.Val72Gly) | |
11 | g.71444003A>G | CA381695899 | DHCR7 | c.311T>C (p.Val104Ala) c.137T>C (p.Val46Ala) n.588T>C c.-275T>C (n.-275T>C) c.215T>C (p.Val72Ala) | |
11 | g.71444003A>T | CA381695901 | DHCR7 | c.311T>A (p.Val104Asp) c.137T>A (p.Val46Asp) n.588T>A c.-275T>A (n.-275T>A) c.215T>A (p.Val72Asp) | |
11 | g.71444004C>A | CA381695904 | DHCR7 | c.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 |
11 | g.71444004C= | CA1981491012 | DHCR7 | c.310G= (p.Val104=) c.136G= (p.Val46=) n.587G= c.-276G= (n.-276G=) c.214G= (p.Val72=) | |
11 | g.71444004C>G | CA381695908 | DHCR7 | c.310G>C (p.Val104Leu) c.136G>C (p.Val46Leu) n.587G>C c.-276G>C (n.-276G>C) c.214G>C (p.Val72Leu) | |
11 | g.71444004C>T | CA381695906 | DHCR7 | c.310G>A (p.Val104Ile) c.136G>A (p.Val46Ile) n.587G>A c.-276G>A (n.-276G>A) c.214G>A (p.Val72Ile) | |
11 | g.71444005C>A | CA381695911 | DHCR7 | c.309G>T (p.Trp103Cys) c.135G>T (p.Trp45Cys) n.586G>T c.-277G>T (n.-277G>T) c.213G>T (p.Trp71Cys) | |
11 | g.71444005C>G | CA381695913 | DHCR7 | c.309G>C (p.Trp103Cys) c.135G>C (p.Trp45Cys) n.586G>C c.-277G>C (n.-277G>C) c.213G>C (p.Trp71Cys) | |
11 | g.71444005C>T | CA381695917 | DHCR7 | c.309G>A (p.Trp103Ter) c.135G>A (p.Trp45Ter) n.586G>A c.-277G>A (n.-277G>A) c.213G>A (p.Trp71Ter) | |
11 | g.71444006C>A | CA381695920 | DHCR7 | c.308G>T (p.Trp103Leu) c.134G>T (p.Trp45Leu) n.585G>T c.-278G>T (n.-278G>T) c.212G>T (p.Trp71Leu) | |
11 | g.71444006C>G | CA381695922 | DHCR7 | c.308G>C (p.Trp103Ser) c.134G>C (p.Trp45Ser) n.585G>C c.-278G>C (n.-278G>C) c.212G>C (p.Trp71Ser) | |
11 | g.71444006C>T | CA381695924 | DHCR7 | c.308G>A (p.Trp103Ter) c.134G>A (p.Trp45Ter) n.585G>A c.-278G>A (n.-278G>A) c.212G>A (p.Trp71Ter) | |
11 | g.71444007A>C | CA381695927 | DHCR7 | c.307T>G (p.Trp103Gly) c.133T>G (p.Trp45Gly) n.584T>G c.-279T>G (n.-279T>G) c.211T>G (p.Trp71Gly) | |
11 | g.71444007A>G | CA381695929 | DHCR7 | c.307T>C (p.Trp103Arg) c.133T>C (p.Trp45Arg) n.584T>C c.-279T>C (n.-279T>C) c.211T>C (p.Trp71Arg) | |
11 | g.71444007A>T | CA381695930 | DHCR7 | c.307T>A (p.Trp103Arg) c.133T>A (p.Trp45Arg) n.584T>A c.-279T>A (n.-279T>A) c.211T>A (p.Trp71Arg) | |
11 | g.71444008C>A | CA381695931 | DHCR7 | c.306G>T (p.Leu102Phe) c.132G>T (p.Leu44Phe) n.583G>T c.-280G>T (n.-280G>T) c.210G>T (p.Leu70Phe) | |
11 | g.71444008C= | CA1981491013 | DHCR7 | c.306G= (p.Leu102=) c.132G= (p.Leu44=) n.583G= c.-280G= (n.-280G=) c.210G= (p.Leu70=) | |
11 | g.71444008C>G | CA381695933 | DHCR7 | c.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 |
11 | g.71444008C>T | CA475520058 | DHCR7 | c.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 |
11 | g.71444009A= | CA1981491014 | DHCR7 | c.305T= (p.Leu102=) c.131T= (p.Leu44=) n.582T= c.-281T= (n.-281T=) c.209T= (p.Leu70=) | |
11 | g.71444009A>C | CA381695935 | DHCR7 | c.305T>G (p.Leu102Trp) c.131T>G (p.Leu44Trp) n.582T>G c.-281T>G (n.-281T>G) c.209T>G (p.Leu70Trp) | |
11 | g.71444009A>G | CA381695942 | DHCR7 | c.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 |
11 | g.71444009A>T | CA381695940 | DHCR7 | c.305T>A (p.Leu102Ter) c.131T>A (p.Leu44Ter) n.582T>A c.-281T>A (n.-281T>A) c.209T>A (p.Leu70Ter) | ClinVar |
11 | g.71444010A= | CA1981491015 | DHCR7 | c.304T= (p.Leu102=) c.130T= (p.Leu44=) n.581T= c.-282T= (n.-282T=) c.208T= (p.Leu70=) | |
11 | g.71444010A>C | CA381695945 | DHCR7 | c.304T>G (p.Leu102Val) c.130T>G (p.Leu44Val) n.581T>G c.-282T>G (n.-282T>G) c.208T>G (p.Leu70Val) | |
11 | g.71444010A>G | CA475520068 | DHCR7 | c.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 |
11 | g.71444010A>T | CA381695947 | DHCR7 | c.304T>A (p.Leu102Met) c.130T>A (p.Leu44Met) n.581T>A c.-282T>A (n.-282T>A) c.208T>A (p.Leu70Met) | |
11 | g.71444011G>A | CA6162642 | DHCR7 | c.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 |
11 | g.71444011G>C | CA475520075 | DHCR7 | c.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 |
11 | g.71444011G= | CA1981491016 | DHCR7 | c.303C= (p.Thr101=) c.129C= (p.Thr43=) n.580C= c.-283C= (n.-283C=) c.207C= (p.Thr69=) | |
11 | g.71444011G>T | CA475520078 | DHCR7 | c.303C>A (p.Thr101=) c.129C>A (p.Thr43=) n.580C>A c.-283C>A (n.-283C>A) c.207C>A (p.Thr69=) | |
11 | g.71444012G>A | CA381695951 | DHCR7 | c.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 |
11 | g.71444012G>C | CA381695949 | DHCR7 | c.302C>G (p.Thr101Ser) c.128C>G (p.Thr43Ser) n.579C>G c.-284C>G (n.-284C>G) c.206C>G (p.Thr69Ser) | |
11 | g.71444012G= | CA1981491017 | DHCR7 | c.302C= (p.Thr101=) c.128C= (p.Thr43=) n.579C= c.-284C= (n.-284C=) c.206C= (p.Thr69=) | |
11 | g.71444012G>T | CA381695950 | DHCR7 | c.302C>A (p.Thr101Asn) c.128C>A (p.Thr43Asn) n.579C>A c.-284C>A (n.-284C>A) c.206C>A (p.Thr69Asn) | |
11 | g.71444013T>A | CA381695954 | DHCR7 | c.301A>T (p.Thr101Ser) c.127A>T (p.Thr43Ser) n.578A>T c.-285A>T (n.-285A>T) c.205A>T (p.Thr69Ser) | |
11 | g.71444013T>C | CA381695956 | DHCR7 | c.301A>G (p.Thr101Ala) c.127A>G (p.Thr43Ala) n.578A>G c.-285A>G (n.-285A>G) c.205A>G (p.Thr69Ala) | |
11 | g.71444013T>G | CA381695958 | DHCR7 | c.301A>C (p.Thr101Pro) c.127A>C (p.Thr43Pro) n.578A>C c.-285A>C (n.-285A>C) c.205A>C (p.Thr69Pro) | |
11 | g.71444014A= | CA1981491018 | DHCR7 | c.300T= (p.Tyr100=) c.126T= (p.Tyr42=) n.577T= c.-286T= (n.-286T=) c.204T= (p.Tyr68=) | |
11 | g.71444014A>C | CA381695961 | DHCR7 | c.300T>G (p.Tyr100Ter) c.126T>G (p.Tyr42Ter) n.577T>G c.-286T>G (n.-286T>G) c.204T>G (p.Tyr68Ter) | |
11 | g.71444014A>G | CA475520095 | DHCR7 | c.300T>C (p.Tyr100=) c.126T>C (p.Tyr42=) n.577T>C c.-286T>C (n.-286T>C) c.204T>C (p.Tyr68=) | |
11 | g.71444014A>T | CA381695963 | DHCR7 | c.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 |
11 | g.71444015T>A | CA381695969 | DHCR7 | c.299A>T (p.Tyr100Phe) c.125A>T (p.Tyr42Phe) n.576A>T c.-287A>T (n.-287A>T) c.203A>T (p.Tyr68Phe) | |
11 | g.71444015T>C | CA381695973 | DHCR7 | c.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 |
11 | g.71444015T>G | CA381695976 | DHCR7 | c.299A>C (p.Tyr100Ser) c.125A>C (p.Tyr42Ser) n.576A>C c.-287A>C (n.-287A>C) c.203A>C (p.Tyr68Ser) | |
11 | g.71444016_71444021del | CA2614862961 | DHCR7 | c.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 |
11 | g.71444016A>C | CA381695979 | DHCR7 | c.298T>G (p.Tyr100Asp) c.124T>G (p.Tyr42Asp) n.575T>G c.-288T>G (n.-288T>G) c.202T>G (p.Tyr68Asp) | |
11 | g.71444016A>G | CA381695985 | DHCR7 | c.298T>C (p.Tyr100His) c.124T>C (p.Tyr42His) n.575T>C c.-288T>C (n.-288T>C) c.202T>C (p.Tyr68His) | |
11 | g.71444016A>T | CA381695989 | DHCR7 | c.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 |
11 | g.71444017G>A | CA475520108 | DHCR7 | c.297C>T (p.Leu99=) c.123C>T (p.Leu41=) n.574C>T c.-289C>T (n.-289C>T) c.201C>T (p.Leu67=) | ClinVar |
11 | g.71444017G>C | CA475520110 | DHCR7 | c.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 |
11 | g.71444017G>T | CA475520112 | DHCR7 | c.297C>A (p.Leu99=) c.123C>A (p.Leu41=) n.574C>A c.-289C>A (n.-289C>A) c.201C>A (p.Leu67=) | |
11 | g.71444018A= | CA1981491019 | DHCR7 | c.296T= (p.Leu99=) c.122T= (p.Leu41=) n.573T= c.-290T= (n.-290T=) c.200T= (p.Leu67=) | |
11 | g.71444018A>C | CA381695993 | DHCR7 | c.296T>G (p.Leu99Arg) c.122T>G (p.Leu41Arg) n.573T>G c.-290T>G (n.-290T>G) c.200T>G (p.Leu67Arg) | |
11 | g.71444018A>G | CA6162643 | DHCR7 | c.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 |
11 | g.71444018A>T | CA381696000 | DHCR7 | c.296T>A (p.Leu99His) c.122T>A (p.Leu41His) n.573T>A c.-290T>A (n.-290T>A) c.200T>A (p.Leu67His) | |
11 | g.71444019G>A | CA381696007 | DHCR7 | c.295C>T (p.Leu99Phe) c.121C>T (p.Leu41Phe) n.572C>T c.-291C>T (n.-291C>T) c.199C>T (p.Leu67Phe) | dbSNP |
11 | g.71444019G>C | CA381696010 | DHCR7 | c.295C>G (p.Leu99Val) c.121C>G (p.Leu41Val) n.572C>G c.-291C>G (n.-291C>G) c.199C>G (p.Leu67Val) | |
11 | g.71444019G= | CA1981491020 | DHCR7 | c.295C= (p.Leu99=) c.121C= (p.Leu41=) n.572C= c.-291C= (n.-291C=) c.199C= (p.Leu67=) | |
11 | g.71444019G>T | CA381696027 | DHCR7 | c.295C>A (p.Leu99Ile) c.121C>A (p.Leu41Ile) n.572C>A c.-291C>A (n.-291C>A) c.199C>A (p.Leu67Ile) | |
11 | g.71444020C>A | CA381696029 | DHCR7 | c.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 |
11 | g.71444020C= | CA1981491021 | DHCR7 | c.294G= (p.Gln98=) c.120G= (p.Gln40=) n.571G= c.-292G= (n.-292G=) c.198G= (p.Gln66=) | |
11 | g.71444020C>G | CA381696030 | DHCR7 | c.294G>C (p.Gln98His) c.120G>C (p.Gln40His) n.571G>C c.-292G>C (n.-292G>C) c.198G>C (p.Gln66His) | |
11 | g.71444020C>T | CA475520126 | DHCR7 | c.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 |
11 | g.71444021T>A | CA381696032 | DHCR7 | c.293A>T (p.Gln98Leu) c.119A>T (p.Gln40Leu) n.570A>T c.-293A>T (n.-293A>T) c.197A>T (p.Gln66Leu) | |
11 | g.71444021T>C | CA381696034 | DHCR7 | c.293A>G (p.Gln98Arg) c.119A>G (p.Gln40Arg) n.570A>G c.-293A>G (n.-293A>G) c.197A>G (p.Gln66Arg) | |
11 | g.71444021T>G | CA381696038 | DHCR7 | c.293A>C (p.Gln98Pro) c.119A>C (p.Gln40Pro) n.570A>C c.-293A>C (n.-293A>C) c.197A>C (p.Gln66Pro) | |
11 | g.71444022G>A | CA273887 | DHCR7 | c.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 |
11 | g.71444022G>C | CA381696045 | DHCR7 | c.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 |
11 | g.71444022G= | CA1981491022 | DHCR7 | c.292C= (p.Gln98=) c.118C= (p.Gln40=) n.569C= c.-294C= (n.-294C=) c.196C= (p.Gln66=) | |
11 | g.71444022G>T | CA381696047 | DHCR7 | c.292C>A (p.Gln98Lys) c.118C>A (p.Gln40Lys) n.569C>A c.-294C>A (n.-294C>A) c.196C>A (p.Gln66Lys) | |
11 | g.71444023G>A | CA6162644 | DHCR7 | c.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 |
11 | g.71444023G>C | CA475520143 | DHCR7 | c.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 |
11 | g.71444023G= | CA1981491023 | DHCR7 | c.291C= (p.Ala97=) c.117C= (p.Ala39=) n.568C= c.-295C= (n.-295C=) c.195C= (p.Ala65=) | |
11 | g.71444023G>T | CA475520142 | DHCR7 | c.291C>A (p.Ala97=) c.117C>A (p.Ala39=) n.568C>A c.-295C>A (n.-295C>A) c.195C>A (p.Ala65=) | |
11 | g.71444024G>A | CA381696058 | DHCR7 | c.290C>T (p.Ala97Val) c.116C>T (p.Ala39Val) n.567C>T c.-296C>T (n.-296C>T) c.194C>T (p.Ala65Val) | |
11 | g.71444024G>C | CA381696053 | DHCR7 | c.290C>G (p.Ala97Gly) c.116C>G (p.Ala39Gly) n.567C>G c.-296C>G (n.-296C>G) c.194C>G (p.Ala65Gly) | |
11 | g.71444024G>T | CA381696056 | DHCR7 | c.290C>A (p.Ala97Asp) c.116C>A (p.Ala39Asp) n.567C>A c.-296C>A (n.-296C>A) c.194C>A (p.Ala65Asp) | |
11 | g.71444025C>A | CA381696062 | DHCR7 | c.289G>T (p.Ala97Ser) c.115G>T (p.Ala39Ser) n.566G>T c.-297G>T (n.-297G>T) c.193G>T (p.Ala65Ser) | |
11 | g.71444025C= | CA1981491024 | DHCR7 | c.289G= (p.Ala97=) c.115G= (p.Ala39=) n.566G= c.-297G= (n.-297G=) c.193G= (p.Ala65=) | |
11 | g.71444025C>G | CA381696065 | DHCR7 | c.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 |
11 | g.71444025C>T | CA6162645 | DHCR7 | c.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 |
11 | g.71444026G>A | CA6162646 | DHCR7 | c.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 |
11 | g.71444026G>C | CA475520160 | DHCR7 | c.288C>G (p.Ala96=) c.114C>G (p.Ala38=) n.565C>G c.-298C>G (n.-298C>G) c.192C>G (p.Ala64=) | |
11 | g.71444026G= | CA1981491025 | DHCR7 | c.288C= (p.Ala96=) c.114C= (p.Ala38=) n.565C= c.-298C= (n.-298C=) c.192C= (p.Ala64=) | |
11 | g.71444026G>T | CA475520156 | DHCR7 | c.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 |
11 | g.71444027G>A | CA381696087 | DHCR7 | c.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 |
11 | g.71444027G>C | CA381696076 | DHCR7 | c.287C>G (p.Ala96Gly) c.113C>G (p.Ala38Gly) n.564C>G c.-299C>G (n.-299C>G) c.191C>G (p.Ala64Gly) | |
11 | g.71444027G= | CA1981491026 | DHCR7 | c.287C= (p.Ala96=) c.113C= (p.Ala38=) n.564C= c.-299C= (n.-299C=) c.191C= (p.Ala64=) | |
11 | g.71444027G>T | CA381696079 | DHCR7 | c.287C>A (p.Ala96Asp) c.113C>A (p.Ala38Asp) n.564C>A c.-299C>A (n.-299C>A) c.191C>A (p.Ala64Asp) | |
11 | g.71444028C>A | CA381696093 | DHCR7 | c.286G>T (p.Ala96Ser) c.112G>T (p.Ala38Ser) n.563G>T c.-300G>T (n.-300G>T) c.190G>T (p.Ala64Ser) | |
11 | g.71444028C>G | CA381696102 | DHCR7 | c.286G>C (p.Ala96Pro) c.112G>C (p.Ala38Pro) n.563G>C c.-300G>C (n.-300G>C) c.190G>C (p.Ala64Pro) | |
11 | g.71444028C>T | CA381696105 | DHCR7 | c.286G>A (p.Ala96Thr) c.112G>A (p.Ala38Thr) n.563G>A c.-300G>A (n.-300G>A) c.190G>A (p.Ala64Thr) | |
11 | g.71444029T>A | CA381696111 | DHCR7 | c.285A>T (p.Lys95Asn) c.111A>T (p.Lys37Asn) n.562A>T c.-301A>T (n.-301A>T) c.189A>T (p.Lys63Asn) | |
11 | g.71444029T>C | CA475520175 | DHCR7 | c.285A>G (p.Lys95=) c.111A>G (p.Lys37=) n.562A>G c.-301A>G (n.-301A>G) c.189A>G (p.Lys63=) | |
11 | g.71444029T>G | CA381696115 | DHCR7 | c.285A>C (p.Lys95Asn) c.111A>C (p.Lys37Asn) n.562A>C c.-301A>C (n.-301A>C) c.189A>C (p.Lys63Asn) | dbSNP |
11 | g.71444029T= | CA1981491027 | DHCR7 | c.285A= (p.Lys95=) c.111A= (p.Lys37=) n.562A= c.-301A= (n.-301A=) c.189A= (p.Lys63=) | |
11 | g.71444030T>A | CA381696121 | DHCR7 | c.284A>T (p.Lys95Ile) c.110A>T (p.Lys37Ile) n.561A>T c.-302A>T (n.-302A>T) c.188A>T (p.Lys63Ile) | |
11 | g.71444030T>C | CA381696129 | DHCR7 | c.284A>G (p.Lys95Arg) c.110A>G (p.Lys37Arg) n.561A>G c.-302A>G (n.-302A>G) c.188A>G (p.Lys63Arg) | |
11 | g.71444030T>G | CA381696125 | DHCR7 | c.284A>C (p.Lys95Thr) c.110A>C (p.Lys37Thr) n.561A>C c.-302A>C (n.-302A>C) c.188A>C (p.Lys63Thr) | |
11 | g.71444031T>A | CA381696134 | DHCR7 | c.283A>T (p.Lys95Ter) c.109A>T (p.Lys37Ter) n.560A>T c.-303A>T (n.-303A>T) c.187A>T (p.Lys63Ter) | |
11 | g.71444031T>C | CA381696136 | DHCR7 | c.283A>G (p.Lys95Glu) c.109A>G (p.Lys37Glu) n.560A>G c.-303A>G (n.-303A>G) c.187A>G (p.Lys63Glu) | |
11 | g.71444031T>G | CA381696138 | DHCR7 | c.283A>C (p.Lys95Gln) c.109A>C (p.Lys37Gln) n.560A>C c.-303A>C (n.-303A>C) c.187A>C (p.Lys63Gln) | |
11 | g.71444032C>A | CA381696141 | DHCR7 | c.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 |
11 | g.71444032C= | CA1981491028 | DHCR7 | c.282G= (p.Arg94=) c.108G= (p.Arg36=) n.559G= c.-304G= (n.-304G=) c.186G= (p.Arg62=) | |
11 | g.71444032C>G | CA381696144 | DHCR7 | c.282G>C (p.Arg94Ser) c.108G>C (p.Arg36Ser) n.559G>C c.-304G>C (n.-304G>C) c.186G>C (p.Arg62Ser) | |
11 | g.71444032C>T | CA224280804 | DHCR7 | c.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 |
11 | g.71444033C>A | CA381696149 | DHCR7 | c.281G>T (p.Arg94Met) c.107G>T (p.Arg36Met) n.558G>T c.-305G>T (n.-305G>T) c.185G>T (p.Arg62Met) | |
11 | g.71444033C>G | CA381696152 | DHCR7 | c.281G>C (p.Arg94Thr) c.107G>C (p.Arg36Thr) n.558G>C c.-305G>C (n.-305G>C) c.185G>C (p.Arg62Thr) | |
11 | g.71444033C>T | CA381696154 | DHCR7 | c.281G>A (p.Arg94Lys) c.107G>A (p.Arg36Lys) n.558G>A c.-305G>A (n.-305G>A) c.185G>A (p.Arg62Lys) | |
11 | g.71444034T>A | CA381696157 | DHCR7 | c.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 | |
11 | g.71444034T>C | CA381696159 | DHCR7 | c.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 | |
11 | g.71444034T>G | CA475520201 | DHCR7 | c.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 | |
11 | g.71444035C>A | CA475520203 | DHCR7 | c.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=) | |
11 | g.71444035C= | CA1981491029 | DHCR7 | c.279G= (p.Thr93=) c.105G= (p.Thr35=) n.556G= c.-307G= (n.-307G=) c.183G= (p.Thr61=) c.219G= (p.Thr73=) | |
11 | g.71444035C>G | CA475520206 | DHCR7 | c.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=) | |
11 | g.71444035C>T | CA6162647 | DHCR7 | c.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 |
11 | g.71444036G>A | CA221665 | DHCR7 | c.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 |
11 | g.71444036G>C | CA381696166 | DHCR7 | c.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) | |
11 | g.71444036G= | CA1981491030 | DHCR7 | c.278C= (p.Thr93=) c.104C= (p.Thr35=) n.555C= c.-308C= (n.-308C=) c.182C= (p.Thr61=) c.218C= (p.Thr73=) | |
11 | g.71444036G>T | CA381696172 | DHCR7 | c.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 |
11 | g.71444037T>A | CA381696176 | DHCR7 | c.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) | |
11 | g.71444037T>C | CA381696179 | DHCR7 | c.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) | |
11 | g.71444037T>G | CA381696182 | DHCR7 | c.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) | |
11 | g.71444038T>A | CA475520222 | DHCR7 | c.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=) | |
11 | g.71444038T>C | CA381696196 | DHCR7 | c.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) | |
11 | g.71444038T>G | CA475520225 | DHCR7 | c.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=) | |
11 | g.71444039A>C | CA381696198 | DHCR7 | c.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) | |
11 | g.71444039A>G | CA381696201 | DHCR7 | c.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) | |
11 | g.71444039A>T | CA381696204 | DHCR7 | c.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 |
11 | g.71444040T>A | CA381696207 | DHCR7 | c.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) | |
11 | g.71444040T>C | CA381696211 | DHCR7 | c.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 |
11 | g.71444040T>G | CA381696209 | DHCR7 | c.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) | |
11 | g.71444041A= | CA1981491031 | DHCR7 | c.273T= (p.Pro91=) c.99T= (p.Pro33=) n.550T= c.-313T= (n.-313T=) c.177T= (p.Pro59=) c.213T= (p.Pro71=) | |
11 | g.71444041A>C | CA475520240 | DHCR7 | c.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=) | |
11 | g.71444041A>G | CA6162648 | DHCR7 | c.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 |
11 | g.71444041A>T | CA475520242 | DHCR7 | c.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 |
11 | g.71444042G>A | CA381696213 | DHCR7 | c.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 |
11 | g.71444042G>C | CA381696215 | DHCR7 | c.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) | |
11 | g.71444042G= | CA1981491032 | DHCR7 | c.272C= (p.Pro91=) c.98C= (p.Pro33=) n.549C= c.-314C= (n.-314C=) c.176C= (p.Pro59=) c.212C= (p.Pro71=) | |
11 | g.71444042G>T | CA381696216 | DHCR7 | c.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) | |
11 | g.71444043G>A | CA381696218 | DHCR7 | c.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 |
11 | g.71444043G>C | CA381696221 | DHCR7 | c.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) | |
11 | g.71444043G= | CA1981491033 | DHCR7 | c.271C= (p.Pro91=) c.97C= (p.Pro33=) n.548C= c.-315C= (n.-315C=) c.175C= (p.Pro59=) c.211C= (p.Pro71=) | |
11 | g.71444043G>T | CA381696220 | DHCR7 | c.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) | |
11 | g.71444044T>A | CA475520258 | DHCR7 | c.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=) | |
11 | g.71444044T>C | CA475520261 | DHCR7 | c.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 |
11 | g.71444044T>G | CA475520264 | DHCR7 | c.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=) | |
11 | g.71444044T= | CA1981491034 | DHCR7 | c.270A= (p.Pro90=) c.96A= (p.Pro32=) n.547A= c.-316A= (n.-316A=) c.174A= (p.Pro58=) c.210A= (p.Pro70=) | |
11 | g.71444045G>A | CA381696223 | DHCR7 | c.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) | |
11 | g.71444045G>C | CA381696225 | DHCR7 | c.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) | |
11 | g.71444045G>T | CA381696227 | DHCR7 | c.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) | |
11 | g.71444046G>A | CA6162649 | DHCR7 | c.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 |
11 | g.71444046G>C | CA381696230 | DHCR7 | c.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) | |
11 | g.71444046G= | CA1981491035 | DHCR7 | c.268C= (p.Pro90=) c.94C= (p.Pro32=) n.545C= c.-318C= (n.-318C=) c.172C= (p.Pro58=) c.208C= (p.Pro70=) | |
11 | g.71444046G>T | CA381696234 | DHCR7 | c.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) | |
11 | g.71444047A= | CA1981491036 | DHCR7 | c.267T= (p.Thr89=) c.93T= (p.Thr31=) n.544T= c.-319T= (n.-319T=) c.171T= (p.Thr57=) c.207T= (p.Thr69=) | |
11 | g.71444047A>C | CA475520277 | DHCR7 | c.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 |
11 | g.71444047A>G | CA6162650 | DHCR7 | c.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 |
11 | g.71444047A>T | CA475520280 | DHCR7 | c.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 |
11 | g.71444048del | CA2697548793 | DHCR7 | c.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 |
11 | g.71444048G>A | CA381696237 | DHCR7 | c.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) | |
11 | g.71444048G>C | CA381696238 | DHCR7 | c.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 |
11 | g.71444048G= | CA1981491037 | DHCR7 | c.266C= (p.Thr89=) c.92C= (p.Thr31=) n.543C= c.-320C= (n.-320C=) c.170C= (p.Thr57=) c.206C= (p.Thr69=) | |
11 | g.71444048G>T | CA381696240 | DHCR7 | c.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) | |
11 | g.71444049T>A | CA224280811 | DHCR7 | c.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 |
11 | g.71444049T>C | CA224280813 | DHCR7 | c.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 |
11 | g.71444049T>G | CA381696243 | DHCR7 | c.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) | |
11 | g.71444049T= | CA1981491038 | DHCR7 | c.265A= (p.Thr89=) c.91A= (p.Thr31=) n.542A= c.-321A= (n.-321A=) c.169A= (p.Thr57=) c.205A= (p.Thr69=) | |
11 | g.71444050C>A | CA381696248 | DHCR7 | c.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) | |
11 | g.71444050C>G | CA381696250 | DHCR7 | c.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 |
11 | g.71444050C>T | CA475520307 | DHCR7 | c.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=) | |
11 | g.71444051T>A | CA381696251 | DHCR7 | c.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) | |
11 | g.71444051T>C | CA381696253 | DHCR7 | c.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 |
11 | g.71444051T>G | CA381696254 | DHCR7 | c.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) | |
11 | g.71444052T>A | CA381696259 | DHCR7 | c.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) | |
11 | g.71444052T>C | CA381696258 | DHCR7 | c.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 |
11 | g.71444052T>G | CA381696257 | DHCR7 | c.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) | |
11 | g.71444053G>A | CA475520320 | DHCR7 | c.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=) | |
11 | g.71444053G>C | CA475520322 | DHCR7 | c.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=) | |
11 | g.71444053G= | CA1981491039 | DHCR7 | c.261C= (p.Ala87=) c.87C= (p.Ala29=) n.538C= c.-325C= (n.-325C=) c.165C= (p.Ala55=) c.201C= (p.Ala67=) | |
11 | g.71444053G>T | CA475520325 | DHCR7 | c.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 |
11 | g.71444054G>A | CA381696262 | DHCR7 | c.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 |
11 | g.71444054G>C | CA381696263 | DHCR7 | c.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) | |
11 | g.71444054G>T | CA381696265 | DHCR7 | c.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) | |
11 | g.71444055C>A | CA381696266 | DHCR7 | c.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) | |
11 | g.71444055C>G | CA381696267 | DHCR7 | c.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) | |
11 | g.71444055C>T | CA381696268 | DHCR7 | c.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) | |
11 | g.71444056C>A | CA381696271 | DHCR7 | c.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) | |
11 | g.71444056C>G | CA381696274 | DHCR7 | c.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) | |
11 | g.71444056C>T | CA381696273 | DHCR7 | c.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) | |
11 | g.71444057C>A | CA381696276 | DHCR7 | c.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) | |
11 | g.71444057C>G | CA381696278 | DHCR7 | c.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) | |
11 | g.71444057C>T | CA381696279 | DHCR7 | c.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) | |
11 | g.71444058A>C | CA381696281 | DHCR7 | c.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) | |
11 | g.71444058A>G | CA381696283 | DHCR7 | c.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) | |
11 | g.71444058A>T | CA381696285 | DHCR7 | c.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) | |
11 | g.71444059G>A | CA224280815 | DHCR7 | c.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 |
11 | g.71444059G>C | CA381696287 | DHCR7 | c.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) | |
11 | g.71444059G= | CA1981491040 | DHCR7 | c.255C= (p.Ile85=) c.81C= (p.Ile27=) n.532C= c.-331C= (n.-331C=) c.159C= (p.Ile53=) c.195C= (p.Ile65=) | |
11 | g.71444059G>T | CA475520363 | DHCR7 | c.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=) | |
11 | g.71444060A>C | CA381696290 | DHCR7 | c.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 |
11 | g.71444060A>G | CA381696292 | DHCR7 | c.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) | |
11 | g.71444060A>T | CA381696295 | DHCR7 | c.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) | |
11 | g.71444061T>A | CA381696303 | DHCR7 | c.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) | |
11 | g.71444061T>C | CA381696299 | DHCR7 | c.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 |
11 | g.71444061T>G | CA381696297 | DHCR7 | c.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) | |
11 | g.71444062G>A | CA6162651 | DHCR7 | c.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 |
11 | g.71444062G>C | CA381696309 | DHCR7 | c.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) | |
11 | g.71444062G= | CA1981491041 | DHCR7 | c.252C= (p.Asp84=) c.78C= (p.Asp26=) n.529C= c.-333-1C= (n.-333-1C=) c.156C= (p.Asp52=) c.192C= (p.Asp64=) | |
11 | g.71444062G>T | CA381696306 | DHCR7 | c.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) | |
11 | g.71444063T>A | CA381696312 | DHCR7 | c.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) | |
11 | g.71444063T>C | CA6162652 | DHCR7 | c.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 |
11 | g.71444063T>G | CA381696314 | DHCR7 | c.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) | |
11 | g.71444063T= | CA1981491042 | DHCR7 | c.251A= (p.Asp84=) c.77A= (p.Asp26=) n.528A= c.-333-2A= (n.-333-2A=) c.155A= (p.Asp52=) c.191A= (p.Asp64=) | |
11 | g.71444064C>A | CA381696318 | DHCR7 | c.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) | |
11 | g.71444064C>G | CA381696322 | DHCR7 | c.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) | |
11 | g.71444064C>T | CA381696320 | DHCR7 | c.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) | |
11 | g.71444065C>A | CA475520395 | DHCR7 | c.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 |
11 | g.71444065C= | CA1981491043 | DHCR7 | c.249G= (p.Ser83=) c.75G= (p.Ser25=) n.526G= c.-333-4G= (n.-333-4G=) c.153G= (p.Ser51=) c.189G= (p.Ser63=) | |
11 | g.71444065C>G | CA475520392 | DHCR7 | c.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=) | |
11 | g.71444065C>T | CA6162653 | DHCR7 | c.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 |
11 | g.71444066G>A | CA6162654 | DHCR7 | c.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 |
11 | g.71444066G>C | CA381696326 | DHCR7 | c.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) | |
11 | g.71444066G= | CA1981491044 | DHCR7 | c.248C= (p.Ser83=) c.74C= (p.Ser25=) n.525C= c.-333-5C= (n.-333-5C=) c.152C= (p.Ser51=) c.188C= (p.Ser63=) | |
11 | g.71444066G>T | CA381696328 | DHCR7 | c.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 |
11 | g.71444067A>C | CA381696331 | DHCR7 | c.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) | |
11 | g.71444067A>G | CA381696333 | DHCR7 | c.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) | |
11 | g.71444067A>T | CA381696335 | DHCR7 | c.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) | |
11 | g.71444068G>A | CA475520410 | DHCR7 | c.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=) | |
11 | g.71444068G>C | CA475520415 | DHCR7 | c.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 |
11 | g.71444068G>T | CA475520412 | DHCR7 | c.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 |
11 | g.71444069A>C | CA381696339 | DHCR7 | c.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) | |
11 | g.71444069A>G | CA381696341 | DHCR7 | c.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) | |
11 | g.71444069A>T | CA381696343 | DHCR7 | c.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) | |
11 | g.71444070G>A | CA224280824 | DHCR7 | c.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 |
11 | g.71444070G>C | CA381696347 | DHCR7 | c.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) | |
11 | g.71444070G= | CA1981491045 | DHCR7 | c.244C= (p.Leu82=) c.70C= (p.Leu24=) n.521C= c.-333-9C= (n.-333-9C=) c.148C= (p.Leu50=) c.184C= (p.Leu62=) | |
11 | g.71444070G>T | CA381696345 | DHCR7 | c.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) | |
11 | g.71444071C>A | CA475520425 | DHCR7 | c.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 |
11 | g.71444071C>G | CA475520426 | DHCR7 | c.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=) | |
11 | g.71444071C>T | CA475520429 | DHCR7 | c.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 |
11 | g.71444072C>A | CA381696351 | DHCR7 | c.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 |
11 | g.71444072C= | CA1981491046 | DHCR7 | c.242G= (p.Arg81=) c.68G= (p.Arg23=) n.519G= c.-333-11G= (n.-333-11G=) c.146G= (p.Arg49=) c.182G= (p.Arg61=) | |
11 | g.71444072C>G | CA381696353 | DHCR7 | c.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) | |
11 | g.71444072C>T | CA6162655 | DHCR7 | c.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 |
11 | g.71444073G>A | CA6162656 | DHCR7 | c.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 |
11 | g.71444073G>C | CA6162657 | DHCR7 | c.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 |
11 | g.71444073G= | CA1981491047 | DHCR7 | c.241C= (p.Arg81=) c.67C= (p.Arg23=) n.518C= c.-333-12C= (n.-333-12C=) c.145C= (p.Arg49=) c.181C= (p.Arg61=) | |
11 | g.71444073G>T | CA475520438 | DHCR7 | c.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=) | |
11 | g.71444074A>C | CA475520447 | DHCR7 | c.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=) | |
11 | g.71444074A>G | CA475520448 | DHCR7 | c.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=) | |
11 | g.71444074A>T | CA475520451 | DHCR7 | c.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=) | |
11 | g.71444075G>A | CA381696356 | DHCR7 | c.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 |
11 | g.71444075G>C | CA381696358 | DHCR7 | c.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) | |
11 | g.71444075G= | CA1981491048 | DHCR7 | c.239C= (p.Ala80=) c.65C= (p.Ala22=) n.516C= c.-333-14C= (n.-333-14C=) c.143C= (p.Ala48=) c.179C= (p.Ala60=) | |
11 | g.71444075G>T | CA381696359 | DHCR7 | c.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 |
11 | g.71444076C>A | CA381696362 | DHCR7 | c.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) | |
11 | g.71444076C>G | CA381696364 | DHCR7 | c.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) | |
11 | g.71444076C>T | CA381696366 | DHCR7 | c.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) | |
11 | g.71444077A= | CA1981491049 | DHCR7 | c.237T= (p.His79=) c.63T= (p.His21=) n.514T= c.-333-16T= (n.-333-16T=) c.141T= (p.His47=) c.177T= (p.His59=) | |
11 | g.71444077A>C | CA381696370 | DHCR7 | c.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) | |
11 | g.71444077A>G | CA475520468 | DHCR7 | c.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 |
11 | g.71444077A>T | CA381696368 | DHCR7 | c.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) | |
11 | g.71444078T>A | CA381696372 | DHCR7 | c.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 |
11 | g.71444078T>C | CA381696374 | DHCR7 | c.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 |
11 | g.71444078T>G | CA381696375 | DHCR7 | c.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) | |
11 | g.71444078T= | CA1981491050 | DHCR7 | c.236A= (p.His79=) c.62A= (p.His21=) n.513A= c.-333-17A= (n.-333-17A=) c.140A= (p.His47=) c.176A= (p.His59=) | |
11 | g.71444079G>A | CA381696378 | DHCR7 | c.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 |
11 | g.71444079G>C | CA381696380 | DHCR7 | c.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) | |
11 | g.71444079G>T | CA381696381 | DHCR7 | c.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) | |
11 | g.71444080T>A | CA475520487 | DHCR7 | c.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=) | |
11 | g.71444080T>C | CA475520489 | DHCR7 | c.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 |
11 | g.71444080T>G | CA475520491 | DHCR7 | c.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=) | |
11 | g.71444081C>A | CA381696384 | DHCR7 | c.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 |
11 | g.71444081C= | CA1981491051 | DHCR7 | c.233G= (p.Gly78=) c.59G= (p.Gly20=) n.510G= c.-333-20G= (n.-333-20G=) c.137G= (p.Gly46=) c.173G= (p.Gly58=) | |
11 | g.71444081C>G | CA381696386 | DHCR7 | c.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 |
11 | g.71444081C>T | CA381696388 | DHCR7 | c.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 |
11 | g.71444082C>A | CA381696390 | DHCR7 | c.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) | |
11 | g.71444082C= | CA1981491052 | DHCR7 | c.232G= (p.Gly78=) c.58G= (p.Gly20=) n.509G= c.-333-21G= (n.-333-21G=) c.136G= (p.Gly46=) c.172G= (p.Gly58=) | |
11 | g.71444082C>G | CA381696393 | DHCR7 | c.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 |
11 | g.71444082C>T | CA6162658 | DHCR7 | c.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 |
11 | g.71444083G>A | CA147245 | DHCR7 | c.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 |
11 | g.71444083G>C | CA475520511 | DHCR7 | c.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 |
11 | g.71444083G= | CA1981491053 | DHCR7 | c.231C= (p.Thr77=) c.57C= (p.Thr19=) n.508C= c.-333-22C= (n.-333-22C=) c.135C= (p.Thr45=) c.171C= (p.Thr57=) | |
11 | g.71444083G>T | CA475520507 | DHCR7 | c.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 |
11 | g.71444084G>A | CA6162659 | DHCR7 | c.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 |
11 | g.71444084G>C | CA381696398 | DHCR7 | c.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) | |
11 | g.71444084G= | CA1981491054 | DHCR7 | c.230C= (p.Thr77=) c.56C= (p.Thr19=) n.507C= c.-333-23C= (n.-333-23C=) c.134C= (p.Thr45=) c.170C= (p.Thr57=) | |
11 | g.71444084G>T | CA381696401 | DHCR7 | c.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) | |
11 | g.71444085T>A | CA381696405 | DHCR7 | c.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) | |
11 | g.71444085T>C | CA381696407 | DHCR7 | c.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) | |
11 | g.71444085T>G | CA381696410 | DHCR7 | c.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) |