Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31526223C>A | CA425566638 | SRD5A2 | c.738G>T (p.Arg246=) c.516G>T (p.Arg172=) c.483G>T (p.Arg161=) | |
2 | g.31526223C>G | CA425566639 | SRD5A2 | c.738G>C (p.Arg246=) c.516G>C (p.Arg172=) c.483G>C (p.Arg161=) | |
2 | g.31526223C>T | CA425566640 | SRD5A2 | c.738G>A (p.Arg246=) c.516G>A (p.Arg172=) c.483G>A (p.Arg161=) | gnomAD v4 |
2 | g.31526224del | CA2658512521 | SRD5A2 | c.738del (p.Ala248ProfsTer?) c.516del (p.Ala174ProfsTer?) c.483del (p.Ala163ProfsTer?) | gnomAD v4 |
2 | g.31526224C>A | CA346597741 | SRD5A2 | c.737G>T (p.Arg246Leu) c.515G>T (p.Arg172Leu) c.482G>T (p.Arg161Leu) | gnomAD v4 |
2 | g.31526224C= | CA1242195944 | SRD5A2 | c.737G= (p.Arg246=) c.515G= (p.Arg172=) c.482G= (p.Arg161=) | |
2 | g.31526224C>G | CA346597740 | SRD5A2 | c.737G>C (p.Arg246Pro) c.515G>C (p.Arg172Pro) c.482G>C (p.Arg161Pro) | gnomAD v4 |
2 | g.31526224C>T | CA1599846 | SRD5A2 | c.737G>A (p.Arg246Gln) c.515G>A (p.Arg172Gln) c.482G>A (p.Arg161Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31526224_31526225insT | CA2586968871 | SRD5A2 | c.736_737insA (p.Arg246GlnfsTer15) c.514_515insA (p.Arg172GlnfsTer15) c.481_482insA (p.Arg161GlnfsTer15) | |
2 | g.31526225G>A | CA340064 | SRD5A2 | c.736C>T (p.Arg246Trp) c.514C>T (p.Arg172Trp) c.481C>T (p.Arg161Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526225G>C | CA346597742 | SRD5A2 | c.736C>G (p.Arg246Gly) c.514C>G (p.Arg172Gly) c.481C>G (p.Arg161Gly) | |
2 | g.31526225G= | CA1242195945 | SRD5A2 | c.736C= (p.Arg246=) c.514C= (p.Arg172=) c.481C= (p.Arg161=) | |
2 | g.31526225G>T | CA425566641 | SRD5A2 | c.736C>A (p.Arg246=) c.514C>A (p.Arg172=) c.481C>A (p.Arg161=) | gnomAD v4 |
2 | g.31526226A>C | CA425566642 | SRD5A2 | c.735T>G (p.Ser245=) c.513T>G (p.Ser171=) c.480T>G (p.Ser160=) | |
2 | g.31526226A>G | CA425566643 | SRD5A2 | c.735T>C (p.Ser245=) c.513T>C (p.Ser171=) c.480T>C (p.Ser160=) | gnomAD v4 |
2 | g.31526226A>T | CA425566644 | SRD5A2 | c.735T>A (p.Ser245=) c.513T>A (p.Ser171=) c.480T>A (p.Ser160=) | gnomAD v4 |
2 | g.31526227G>A | CA346597743 | SRD5A2 | c.734C>T (p.Ser245Phe) c.512C>T (p.Ser171Phe) c.479C>T (p.Ser160Phe) | |
2 | g.31526227G>C | CA346597744 | SRD5A2 | c.734C>G (p.Ser245Cys) c.512C>G (p.Ser171Cys) c.479C>G (p.Ser160Cys) | |
2 | g.31526227G= | CA1242195946 | SRD5A2 | c.734C= (p.Ser245=) c.512C= (p.Ser171=) c.479C= (p.Ser160=) | |
2 | g.31526227G>T | CA1599847 | SRD5A2 | c.734C>A (p.Ser245Tyr) c.512C>A (p.Ser171Tyr) c.479C>A (p.Ser160Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526228A>C | CA346597745 | SRD5A2 | c.733T>G (p.Ser245Ala) c.511T>G (p.Ser171Ala) c.478T>G (p.Ser160Ala) | |
2 | g.31526228A>G | CA346597746 | SRD5A2 | c.733T>C (p.Ser245Pro) c.511T>C (p.Ser171Pro) c.478T>C (p.Ser160Pro) | |
2 | g.31526228A>T | CA346597747 | SRD5A2 | c.733T>A (p.Ser245Thr) c.511T>A (p.Ser171Thr) c.478T>A (p.Ser160Thr) | |
2 | g.31526229T>A | CA346597748 | SRD5A2 | c.732A>T (p.Lys244Asn) c.510A>T (p.Lys170Asn) c.477A>T (p.Lys159Asn) | |
2 | g.31526229T>C | CA425566645 | SRD5A2 | c.732A>G (p.Lys244=) c.510A>G (p.Lys170=) c.477A>G (p.Lys159=) | |
2 | g.31526229T>G | CA346597749 | SRD5A2 | c.732A>C (p.Lys244Asn) c.510A>C (p.Lys170Asn) c.477A>C (p.Lys159Asn) | |
2 | g.31526230T>A | CA346597750 | SRD5A2 | c.731A>T (p.Lys244Ile) c.509A>T (p.Lys170Ile) c.476A>T (p.Lys159Ile) | |
2 | g.31526230T>C | CA346597751 | SRD5A2 | c.731A>G (p.Lys244Arg) c.509A>G (p.Lys170Arg) c.476A>G (p.Lys159Arg) | |
2 | g.31526230T>G | CA346597752 | SRD5A2 | c.731A>C (p.Lys244Thr) c.509A>C (p.Lys170Thr) c.476A>C (p.Lys159Thr) | |
2 | g.31526231T>A | CA346597753 | SRD5A2 | c.730A>T (p.Lys244Ter) c.508A>T (p.Lys170Ter) c.475A>T (p.Lys159Ter) | dbSNP |
2 | g.31526231T>C | CA346597754 | SRD5A2 | c.730A>G (p.Lys244Glu) c.508A>G (p.Lys170Glu) c.475A>G (p.Lys159Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526231T>G | CA346597755 | SRD5A2 | c.730A>C (p.Lys244Gln) c.508A>C (p.Lys170Gln) c.475A>C (p.Lys159Gln) | |
2 | g.31526231T= | CA1242195947 | SRD5A2 | c.730A= (p.Lys244=) c.508A= (p.Lys170=) c.475A= (p.Lys159=) | |
2 | g.31526231_31526232delinsTG | CA1242195948 | SRD5A2 | c.729_730delinsCA (p.Pro243=) c.507_508delinsCA (p.Pro169=) c.474_475delinsCA (p.Pro158=) | |
2 | g.31526232G>A | CA425566646 | SRD5A2 | c.729C>T (p.Pro243=) c.507C>T (p.Pro169=) c.474C>T (p.Pro158=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526232G>C | CA425566647 | SRD5A2 | c.729C>G (p.Pro243=) c.507C>G (p.Pro169=) c.474C>G (p.Pro158=) | |
2 | g.31526232G= | CA1242195949 | SRD5A2 | c.729C= (p.Pro243=) c.507C= (p.Pro169=) c.474C= (p.Pro158=) | |
2 | g.31526232G>T | CA425566648 | SRD5A2 | c.729C>A (p.Pro243=) c.507C>A (p.Pro169=) c.474C>A (p.Pro158=) | gnomAD v4 |
2 | g.31526235del | CA658823245 | SRD5A2 | c.729del (p.Lys244AsnfsTer?) c.507del (p.Lys170AsnfsTer?) c.474del (p.Lys159AsnfsTer?) | ClinVar dbSNP |
2 | g.31526233G>A | CA346597757 | SRD5A2 | c.728C>T (p.Pro243Leu) c.506C>T (p.Pro169Leu) c.473C>T (p.Pro158Leu) | gnomAD v4 |
2 | g.31526233G>C | CA45135975 | SRD5A2 | c.728C>G (p.Pro243Arg) c.506C>G (p.Pro169Arg) c.473C>G (p.Pro158Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526233G= | CA1242195950 | SRD5A2 | c.728C= (p.Pro243=) c.506C= (p.Pro169=) c.473C= (p.Pro158=) | |
2 | g.31526233G>T | CA346597756 | SRD5A2 | c.728C>A (p.Pro243His) c.506C>A (p.Pro169His) c.473C>A (p.Pro158His) | gnomAD v4 |
2 | g.31526234G>A | CA346597758 | SRD5A2 | c.727C>T (p.Pro243Ser) c.505C>T (p.Pro169Ser) c.472C>T (p.Pro158Ser) | gnomAD v4 |
2 | g.31526234G>C | CA346597759 | SRD5A2 | c.727C>G (p.Pro243Ala) c.505C>G (p.Pro169Ala) c.472C>G (p.Pro158Ala) | |
2 | g.31526234G= | CA1242195951 | SRD5A2 | c.727C= (p.Pro243=) c.505C= (p.Pro169=) c.472C= (p.Pro158=) | |
2 | g.31526234G>T | CA346597760 | SRD5A2 | c.727C>A (p.Pro243Thr) c.505C>A (p.Pro169Thr) c.472C>A (p.Pro158Thr) | gnomAD v4 |
2 | g.31526239_31526259dup | CA531769396 | SRD5A2 | c.707_727dup (p.Tyr242_Pro243insLeuLysMetPheGluAspTyr) c.485_505dup (p.Tyr168_Pro169insLeuLysMetPheGluAspTyr) c.452_472dup (p.Tyr157_Pro158insLeuLysMetPheGluAspTyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526235G>A | CA425566649 | SRD5A2 | c.726C>T (p.Tyr242=) c.504C>T (p.Tyr168=) c.471C>T (p.Tyr157=) | gnomAD v4 |
2 | g.31526235G>C | CA346597761 | SRD5A2 | c.726C>G (p.Tyr242Ter) c.504C>G (p.Tyr168Ter) c.471C>G (p.Tyr157Ter) | |
2 | g.31526235G>T | CA346597762 | SRD5A2 | c.726C>A (p.Tyr242Ter) c.504C>A (p.Tyr168Ter) c.471C>A (p.Tyr157Ter) | gnomAD v4 |
2 | g.31526235_31526236insATTCTGAG | CA1242195952 | SRD5A2 | c.726_727insTCAGAATC (p.Pro243SerfsTer?) c.504_505insTCAGAATC (p.Pro169SerfsTer?) c.471_472insTCAGAATC (p.Pro158SerfsTer?) | dbSNP |
2 | g.31526236T>A | CA346597763 | SRD5A2 | c.725A>T (p.Tyr242Phe) c.503A>T (p.Tyr168Phe) c.470A>T (p.Tyr157Phe) | |
2 | g.31526236T>C | CA346597764 | SRD5A2 | c.725A>G (p.Tyr242Cys) c.503A>G (p.Tyr168Cys) c.470A>G (p.Tyr157Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.31526236T>G | CA346597765 | SRD5A2 | c.725A>C (p.Tyr242Ser) c.503A>C (p.Tyr168Ser) c.470A>C (p.Tyr157Ser) | |
2 | g.31526236T= | CA1242195953 | SRD5A2 | c.725A= (p.Tyr242=) c.503A= (p.Tyr168=) c.470A= (p.Tyr157=) | |
2 | g.31526237A= | CA1242195954 | SRD5A2 | c.724T= (p.Tyr242=) c.502T= (p.Tyr168=) c.469T= (p.Tyr157=) | |
2 | g.31526237A>C | CA346597766 | SRD5A2 | c.724T>G (p.Tyr242Asp) c.502T>G (p.Tyr168Asp) c.469T>G (p.Tyr157Asp) | |
2 | g.31526237A>G | CA346597767 | SRD5A2 | c.724T>C (p.Tyr242His) c.502T>C (p.Tyr168His) c.469T>C (p.Tyr157His) | dbSNP gnomAD v4 |
2 | g.31526237A>T | CA346597768 | SRD5A2 | c.724T>A (p.Tyr242Asn) c.502T>A (p.Tyr168Asn) c.469T>A (p.Tyr157Asn) | |
2 | g.31526238G>A | CA425566650 | SRD5A2 | c.723C>T (p.Asp241=) c.501C>T (p.Asp167=) c.468C>T (p.Asp156=) | gnomAD v4 |
2 | g.31526238G>C | CA346597770 | SRD5A2 | c.723C>G (p.Asp241Glu) c.501C>G (p.Asp167Glu) c.468C>G (p.Asp156Glu) | gnomAD v4 |
2 | g.31526238G>T | CA346597769 | SRD5A2 | c.723C>A (p.Asp241Glu) c.501C>A (p.Asp167Glu) c.468C>A (p.Asp156Glu) | gnomAD v4 |
2 | g.31526239T>A | CA346597771 | SRD5A2 | c.722A>T (p.Asp241Val) c.500A>T (p.Asp167Val) c.467A>T (p.Asp156Val) | |
2 | g.31526239T>C | CA346597772 | SRD5A2 | c.722A>G (p.Asp241Gly) c.500A>G (p.Asp167Gly) c.467A>G (p.Asp156Gly) | |
2 | g.31526239T>G | CA346597773 | SRD5A2 | c.722A>C (p.Asp241Ala) c.500A>C (p.Asp167Ala) c.467A>C (p.Asp156Ala) | |
2 | g.31526240C>A | CA45135976 | SRD5A2 | c.721G>T (p.Asp241Tyr) c.499G>T (p.Asp167Tyr) c.466G>T (p.Asp156Tyr) | dbSNP gnomAD v4 |
2 | g.31526240C= | CA1242195955 | SRD5A2 | c.721G= (p.Asp241=) c.499G= (p.Asp167=) c.466G= (p.Asp156=) | |
2 | g.31526240C>G | CA346597774 | SRD5A2 | c.721G>C (p.Asp241His) c.499G>C (p.Asp167His) c.466G>C (p.Asp156His) | |
2 | g.31526240C>T | CA346597775 | SRD5A2 | c.721G>A (p.Asp241Asn) c.499G>A (p.Asp167Asn) c.466G>A (p.Asp156Asn) | gnomAD v4 |
2 | g.31526241C>A | CA346597776 | SRD5A2 | c.720G>T (p.Glu240Asp) c.498G>T (p.Glu166Asp) c.465G>T (p.Glu155Asp) | gnomAD v4 |
2 | g.31526241C>G | CA346597777 | SRD5A2 | c.720G>C (p.Glu240Asp) c.498G>C (p.Glu166Asp) c.465G>C (p.Glu155Asp) | |
2 | g.31526241C>T | CA425566651 | SRD5A2 | c.720G>A (p.Glu240=) c.498G>A (p.Glu166=) c.465G>A (p.Glu155=) | gnomAD v4 |
2 | g.31526242T>A | CA346597778 | SRD5A2 | c.719A>T (p.Glu240Val) c.497A>T (p.Glu166Val) c.464A>T (p.Glu155Val) | gnomAD v4 |
2 | g.31526242T>C | CA346597779 | SRD5A2 | c.719A>G (p.Glu240Gly) c.497A>G (p.Glu166Gly) c.464A>G (p.Glu155Gly) | gnomAD v4 |
2 | g.31526242T>G | CA346597780 | SRD5A2 | c.719A>C (p.Glu240Ala) c.497A>C (p.Glu166Ala) c.464A>C (p.Glu155Ala) | |
2 | g.31526243C>A | CA346597781 | SRD5A2 | c.718G>T (p.Glu240Ter) c.496G>T (p.Glu166Ter) c.463G>T (p.Glu155Ter) | gnomAD v4 |
2 | g.31526243C>G | CA346597782 | SRD5A2 | c.718G>C (p.Glu240Gln) c.496G>C (p.Glu166Gln) c.463G>C (p.Glu155Gln) | |
2 | g.31526243C>T | CA346597783 | SRD5A2 | c.718G>A (p.Glu240Lys) c.496G>A (p.Glu166Lys) c.463G>A (p.Glu155Lys) | gnomAD v4 |
2 | g.31526244A>C | CA346597784 | SRD5A2 | c.717T>G (p.Phe239Leu) c.495T>G (p.Phe165Leu) c.462T>G (p.Phe154Leu) | |
2 | g.31526244A>G | CA425566652 | SRD5A2 | c.717T>C (p.Phe239=) c.495T>C (p.Phe165=) c.462T>C (p.Phe154=) | |
2 | g.31526244A>T | CA346597785 | SRD5A2 | c.717T>A (p.Phe239Leu) c.495T>A (p.Phe165Leu) c.462T>A (p.Phe154Leu) | |
2 | g.31526245A= | CA1242195956 | SRD5A2 | c.716T= (p.Phe239=) c.494T= (p.Phe165=) c.461T= (p.Phe154=) | |
2 | g.31526245A>C | CA346597786 | SRD5A2 | c.716T>G (p.Phe239Cys) c.494T>G (p.Phe165Cys) c.461T>G (p.Phe154Cys) | gnomAD v4 |
2 | g.31526245A>G | CA346597787 | SRD5A2 | c.716T>C (p.Phe239Ser) c.494T>C (p.Phe165Ser) c.461T>C (p.Phe154Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526245A>T | CA346597788 | SRD5A2 | c.716T>A (p.Phe239Tyr) c.494T>A (p.Phe165Tyr) c.461T>A (p.Phe154Tyr) | |
2 | g.31526246A= | CA1242195957 | SRD5A2 | c.715T= (p.Phe239=) c.493T= (p.Phe165=) c.460T= (p.Phe154=) | |
2 | g.31526246A>C | CA346597789 | SRD5A2 | c.715T>G (p.Phe239Val) c.493T>G (p.Phe165Val) c.460T>G (p.Phe154Val) | |
2 | g.31526246A>G | CA346597790 | SRD5A2 | c.715T>C (p.Phe239Leu) c.493T>C (p.Phe165Leu) c.460T>C (p.Phe154Leu) | dbSNP |
2 | g.31526246A>T | CA346597791 | SRD5A2 | c.715T>A (p.Phe239Ile) c.493T>A (p.Phe165Ile) c.460T>A (p.Phe154Ile) | gnomAD v4 |
2 | g.31526247C>A | CA346597792 | SRD5A2 | c.714G>T (p.Met238Ile) c.492G>T (p.Met164Ile) c.459G>T (p.Met153Ile) | gnomAD v4 |
2 | g.31526247C>G | CA346597793 | SRD5A2 | c.714G>C (p.Met238Ile) c.492G>C (p.Met164Ile) c.459G>C (p.Met153Ile) | |
2 | g.31526247C>T | CA346597794 | SRD5A2 | c.714G>A (p.Met238Ile) c.492G>A (p.Met164Ile) c.459G>A (p.Met153Ile) | gnomAD v4 |
2 | g.31526247_31526248insGTTT | CA2586968872 | SRD5A2 | c.713_714insAAAC (p.Met238IlefsTer4) c.491_492insAAAC (p.Met164IlefsTer4) c.458_459insAAAC (p.Met153IlefsTer4) | |
2 | g.31526248A>C | CA346597795 | SRD5A2 | c.713T>G (p.Met238Arg) c.491T>G (p.Met164Arg) c.458T>G (p.Met153Arg) | |
2 | g.31526248A>G | CA346597796 | SRD5A2 | c.713T>C (p.Met238Thr) c.491T>C (p.Met164Thr) c.458T>C (p.Met153Thr) | |
2 | g.31526248A>T | CA346597797 | SRD5A2 | c.713T>A (p.Met238Lys) c.491T>A (p.Met164Lys) c.458T>A (p.Met153Lys) | gnomAD v4 |
2 | g.31526249T>A | CA346597799 | SRD5A2 | c.712A>T (p.Met238Leu) c.490A>T (p.Met164Leu) c.457A>T (p.Met153Leu) | |
2 | g.31526249T>C | CA346597800 | SRD5A2 | c.712A>G (p.Met238Val) c.490A>G (p.Met164Val) c.457A>G (p.Met153Val) | gnomAD v4 |
2 | g.31526249T>G | CA346597798 | SRD5A2 | c.712A>C (p.Met238Leu) c.490A>C (p.Met164Leu) c.457A>C (p.Met153Leu) | |
2 | g.31526250C>A | CA346597802 | SRD5A2 | c.711G>T (p.Lys237Asn) c.489G>T (p.Lys163Asn) c.456G>T (p.Lys152Asn) | gnomAD v4 |
2 | g.31526250C>G | CA346597801 | SRD5A2 | c.711G>C (p.Lys237Asn) c.489G>C (p.Lys163Asn) c.456G>C (p.Lys152Asn) | COSMIC |
2 | g.31526250C>T | CA425566653 | SRD5A2 | c.711G>A (p.Lys237=) c.489G>A (p.Lys163=) c.456G>A (p.Lys152=) | |
2 | g.31526251T>A | CA346597803 | SRD5A2 | c.710A>T (p.Lys237Met) c.488A>T (p.Lys163Met) c.455A>T (p.Lys152Met) | gnomAD v4 |
2 | g.31526251T>C | CA346597804 | SRD5A2 | c.710A>G (p.Lys237Arg) c.488A>G (p.Lys163Arg) c.455A>G (p.Lys152Arg) | |
2 | g.31526251T>G | CA346597805 | SRD5A2 | c.710A>C (p.Lys237Thr) c.488A>C (p.Lys163Thr) c.455A>C (p.Lys152Thr) | |
2 | g.31526252T>A | CA346597806 | SRD5A2 | c.709A>T (p.Lys237Ter) c.487A>T (p.Lys163Ter) c.454A>T (p.Lys152Ter) | gnomAD v4 |
2 | g.31526252T>C | CA346597807 | SRD5A2 | c.709A>G (p.Lys237Glu) c.487A>G (p.Lys163Glu) c.454A>G (p.Lys152Glu) | gnomAD v4 |
2 | g.31526252T>G | CA346597808 | SRD5A2 | c.709A>C (p.Lys237Gln) c.487A>C (p.Lys163Gln) c.454A>C (p.Lys152Gln) | |
2 | g.31526253G>A | CA425566654 | SRD5A2 | c.708C>T (p.Leu236=) c.486C>T (p.Leu162=) c.453C>T (p.Leu151=) | gnomAD v4 |
2 | g.31526253G>C | CA425566655 | SRD5A2 | c.708C>G (p.Leu236=) c.486C>G (p.Leu162=) c.453C>G (p.Leu151=) | |
2 | g.31526253G>T | CA425566656 | SRD5A2 | c.708C>A (p.Leu236=) c.486C>A (p.Leu162=) c.453C>A (p.Leu151=) | gnomAD v4 |
2 | g.31526254A>C | CA346597809 | SRD5A2 | c.707T>G (p.Leu236Arg) c.485T>G (p.Leu162Arg) c.452T>G (p.Leu151Arg) | |
2 | g.31526254A>G | CA346597810 | SRD5A2 | c.707T>C (p.Leu236Pro) c.485T>C (p.Leu162Pro) c.452T>C (p.Leu151Pro) | gnomAD v4 |
2 | g.31526254A>T | CA346597811 | SRD5A2 | c.707T>A (p.Leu236His) c.485T>A (p.Leu162His) c.452T>A (p.Leu151His) | |
2 | g.31526255G>A | CA346597812 | SRD5A2 | c.706C>T (p.Leu236Phe) c.484C>T (p.Leu162Phe) c.451C>T (p.Leu151Phe) | dbSNP gnomAD v4 |
2 | g.31526255G>C | CA346597813 | SRD5A2 | c.706C>G (p.Leu236Val) c.484C>G (p.Leu162Val) c.451C>G (p.Leu151Val) | |
2 | g.31526255G= | CA1242195958 | SRD5A2 | c.706C= (p.Leu236=) c.484C= (p.Leu162=) c.451C= (p.Leu151=) | |
2 | g.31526255G>T | CA346597814 | SRD5A2 | c.706C>A (p.Leu236Ile) c.484C>A (p.Leu162Ile) c.451C>A (p.Leu151Ile) | gnomAD v4 |
2 | g.31526256G>A | CA1599848 | SRD5A2 | c.705C>T (p.Tyr235=) c.483C>T (p.Tyr161=) c.450C>T (p.Tyr150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.31526256G>C | CA346597816 | SRD5A2 | c.705C>G (p.Tyr235Ter) c.483C>G (p.Tyr161Ter) c.450C>G (p.Tyr150Ter) | |
2 | g.31526256G= | CA1242195959 | SRD5A2 | c.705C= (p.Tyr235=) c.483C= (p.Tyr161=) c.450C= (p.Tyr150=) | |
2 | g.31526256G>T | CA346597815 | SRD5A2 | c.705C>A (p.Tyr235Ter) c.483C>A (p.Tyr161Ter) c.450C>A (p.Tyr150Ter) | gnomAD v4 |
2 | g.31526257T>A | CA1599849 | SRD5A2 | c.704A>T (p.Tyr235Phe) c.482A>T (p.Tyr161Phe) c.449A>T (p.Tyr150Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526257T>C | CA346597817 | SRD5A2 | c.704A>G (p.Tyr235Cys) c.482A>G (p.Tyr161Cys) c.449A>G (p.Tyr150Cys) | |
2 | g.31526257T>G | CA346597818 | SRD5A2 | c.704A>C (p.Tyr235Ser) c.482A>C (p.Tyr161Ser) c.449A>C (p.Tyr150Ser) | gnomAD v4 |
2 | g.31526257T= | CA1242195960 | SRD5A2 | c.704A= (p.Tyr235=) c.482A= (p.Tyr161=) c.449A= (p.Tyr150=) | |
2 | g.31526258A>C | CA346597819 | SRD5A2 | c.703T>G (p.Tyr235Asp) c.481T>G (p.Tyr161Asp) c.448T>G (p.Tyr150Asp) | |
2 | g.31526258A>G | CA346597820 | SRD5A2 | c.703T>C (p.Tyr235His) c.481T>C (p.Tyr161His) c.448T>C (p.Tyr150His) | ClinVar gnomAD v4 |
2 | g.31526258A>T | CA346597821 | SRD5A2 | c.703T>A (p.Tyr235Asn) c.481T>A (p.Tyr161Asn) c.448T>A (p.Tyr150Asn) | |
2 | g.31526259G>A | CA425566657 | SRD5A2 | c.702C>T (p.Phe234=) c.480C>T (p.Phe160=) c.447C>T (p.Phe149=) | |
2 | g.31526259G>C | CA224922 | SRD5A2 | c.702C>G (p.Phe234Leu) c.480C>G (p.Phe160Leu) c.447C>G (p.Phe149Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526259G= | CA1242195961 | SRD5A2 | c.702C= (p.Phe234=) c.480C= (p.Phe160=) c.447C= (p.Phe149=) | |
2 | g.31526259G>T | CA346597822 | SRD5A2 | c.702C>A (p.Phe234Leu) c.480C>A (p.Phe160Leu) c.447C>A (p.Phe149Leu) | gnomAD v4 |
2 | g.31526260A>C | CA346597823 | SRD5A2 | c.701T>G (p.Phe234Cys) c.479T>G (p.Phe160Cys) c.446T>G (p.Phe149Cys) | |
2 | g.31526260A>G | CA346597824 | SRD5A2 | c.701T>C (p.Phe234Ser) c.479T>C (p.Phe160Ser) c.446T>C (p.Phe149Ser) | gnomAD v4 |
2 | g.31526260A>T | CA346597825 | SRD5A2 | c.701T>A (p.Phe234Tyr) c.479T>A (p.Phe160Tyr) c.446T>A (p.Phe149Tyr) | |
2 | g.31526261A= | CA1242195962 | SRD5A2 | c.700T= (p.Phe234=) c.478T= (p.Phe160=) c.445T= (p.Phe149=) | |
2 | g.31526261A>C | CA346597827 | SRD5A2 | c.700T>G (p.Phe234Val) c.478T>G (p.Phe160Val) c.445T>G (p.Phe149Val) | |
2 | g.31526261A>G | CA346597828 | SRD5A2 | c.700T>C (p.Phe234Leu) c.478T>C (p.Phe160Leu) c.445T>C (p.Phe149Leu) | dbSNP gnomAD v2 |
2 | g.31526261A>T | CA346597826 | SRD5A2 | c.700T>A (p.Phe234Ile) c.478T>A (p.Phe160Ile) c.445T>A (p.Phe149Ile) | |
2 | g.31526262C>A | CA346597829 | SRD5A2 | c.699G>T (p.Arg233Ser) c.477G>T (p.Arg159Ser) c.444G>T (p.Arg148Ser) | gnomAD v4 |
2 | g.31526262C= | CA1242195963 | SRD5A2 | c.699G= (p.Arg233=) c.477G= (p.Arg159=) c.444G= (p.Arg148=) | |
2 | g.31526262C>G | CA346597830 | SRD5A2 | c.699G>C (p.Arg233Ser) c.477G>C (p.Arg159Ser) c.444G>C (p.Arg148Ser) | |
2 | g.31526262C>T | CA1599850 | SRD5A2 | c.699G>A (p.Arg233=) c.477G>A (p.Arg159=) c.444G>A (p.Arg148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526263del | CA2658512522 | SRD5A2 | c.699del c.477del c.444del | gnomAD v4 |
2 | g.31526263C>A | CA346597831 | SRD5A2 | c.699-1G>T (n.699-1G>T) c.477-1G>T (n.477-1G>T) c.444-1G>T (n.444-1G>T) | gnomAD v4 |
2 | g.31526263C>G | CA346597832 | SRD5A2 | c.699-1G>C (n.699-1G>C) c.477-1G>C (n.477-1G>C) c.444-1G>C (n.444-1G>C) | |
2 | g.31526263C>T | CA346597833 | SRD5A2 | c.699-1G>A (n.699-1G>A) c.477-1G>A (n.477-1G>A) c.444-1G>A (n.444-1G>A) | ClinVar gnomAD v4 |
2 | g.31526264T>A | CA346597834 | SRD5A2 | c.699-2A>T (n.699-2A>T) c.477-2A>T (n.477-2A>T) c.444-2A>T (n.444-2A>T) | gnomAD v4 |
2 | g.31526264T>C | CA45135977 | SRD5A2 | c.699-2A>G (n.699-2A>G) c.477-2A>G (n.477-2A>G) c.444-2A>G (n.444-2A>G) | dbSNP gnomAD v4 |
2 | g.31526264T>G | CA346597835 | SRD5A2 | c.699-2A>C (n.699-2A>C) c.477-2A>C (n.477-2A>C) c.444-2A>C (n.444-2A>C) | gnomAD v4 |
2 | g.31526264T= | CA1242195964 | SRD5A2 | c.699-2A= (n.699-2A=) c.477-2A= (n.477-2A=) c.444-2A= (n.444-2A=) | |
2 | g.31526265A= | CA1242195965 | SRD5A2 | c.699-3T= (n.699-3T=) c.477-3T= (n.477-3T=) c.444-3T= (n.444-3T=) | |
2 | g.31526265A>G | CA1599851 | SRD5A2 | c.699-3T>C (n.699-3T>C) c.477-3T>C (n.477-3T>C) c.444-3T>C (n.444-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31526268del | CA2576929360 | SRD5A2 | c.699-3del (n.699-3del) c.477-3del (n.477-3del) c.444-3del (n.444-3del) | gnomAD v4 |
2 | g.31526266A>C | CA2658512524 | SRD5A2 | c.699-4T>G (n.699-4T>G) c.477-4T>G (n.477-4T>G) c.444-4T>G (n.444-4T>G) | gnomAD v4 |
2 | g.31526266A>G | CA2658512523 | SRD5A2 | c.699-4T>C (n.699-4T>C) c.477-4T>C (n.477-4T>C) c.444-4T>C (n.444-4T>C) | gnomAD v4 |
2 | g.31526267A>G | CA2658512525 | SRD5A2 | c.699-5T>C (n.699-5T>C) c.477-5T>C (n.477-5T>C) c.444-5T>C (n.444-5T>C) | gnomAD v4 |
2 | g.31526267A>T | CA2658512526 | SRD5A2 | c.699-5T>A (n.699-5T>A) c.477-5T>A (n.477-5T>A) c.444-5T>A (n.444-5T>A) | gnomAD v4 |
2 | g.31526271_31526275del | CA2740260369 | SRD5A2 | c.699-9_699-5del (n.699-9_699-5del) c.477-9_477-5del (n.477-9_477-5del) c.444-9_444-5del (n.444-9_444-5del) | |
2 | g.31526268A>G | CA2658512527 | SRD5A2 | c.699-6T>C (n.699-6T>C) c.477-6T>C (n.477-6T>C) c.444-6T>C (n.444-6T>C) | gnomAD v4 |
2 | g.31526269G>A | CA531769397 | SRD5A2 | c.699-7C>T (n.699-7C>T) c.477-7C>T (n.477-7C>T) c.444-7C>T (n.444-7C>T) | dbSNP gnomAD v2 |
2 | g.31526269G= | CA1242195966 | SRD5A2 | c.699-7C= (n.699-7C=) c.477-7C= (n.477-7C=) c.444-7C= (n.444-7C=) | |
2 | g.31526269G>T | CA2658512528 | SRD5A2 | c.699-7C>A (n.699-7C>A) c.477-7C>A (n.477-7C>A) c.444-7C>A (n.444-7C>A) | gnomAD v4 |
2 | g.31526270A>T | CA2658512529 | SRD5A2 | c.699-8T>A (n.699-8T>A) c.477-8T>A (n.477-8T>A) c.444-8T>A (n.444-8T>A) | gnomAD v4 |
2 | g.31526271C>A | CA2658512530 | SRD5A2 | c.699-9G>T (n.699-9G>T) c.477-9G>T (n.477-9G>T) c.444-9G>T (n.444-9G>T) | gnomAD v4 |
2 | g.31526271C>T | CA2658512531 | SRD5A2 | c.699-9G>A (n.699-9G>A) c.477-9G>A (n.477-9G>A) c.444-9G>A (n.444-9G>A) | gnomAD v4 |
2 | g.31526272A= | CA1242195967 | SRD5A2 | c.699-10T= (n.699-10T=) c.477-10T= (n.477-10T=) c.444-10T= (n.444-10T=) | |
2 | g.31526272A>G | CA531769398 | SRD5A2 | c.699-10T>C (n.699-10T>C) c.477-10T>C (n.477-10T>C) c.444-10T>C (n.444-10T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526274G>C | CA1028961306 | SRD5A2 | c.699-12C>G (n.699-12C>G) c.477-12C>G (n.477-12C>G) c.444-12C>G (n.444-12C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526274G= | CA1242195968 | SRD5A2 | c.699-12C= (n.699-12C=) c.477-12C= (n.477-12C=) c.444-12C= (n.444-12C=) | |
2 | g.31526274G>T | CA2658512532 | SRD5A2 | c.699-12C>A (n.699-12C>A) c.477-12C>A (n.477-12C>A) c.444-12C>A (n.444-12C>A) | gnomAD v4 |
2 | g.31526275A= | CA1242195969 | SRD5A2 | c.699-13T= (n.699-13T=) c.477-13T= (n.477-13T=) c.444-13T= (n.444-13T=) | |
2 | g.31526275A>C | CA45135978 | SRD5A2 | c.699-13T>G (n.699-13T>G) c.477-13T>G (n.477-13T>G) c.444-13T>G (n.444-13T>G) | dbSNP |
2 | g.31526275A>G | CA1242195970 | SRD5A2 | c.699-13T>C (n.699-13T>C) c.477-13T>C (n.477-13T>C) c.444-13T>C (n.444-13T>C) | dbSNP gnomAD v4 |
2 | g.31526276A= | CA1242195971 | SRD5A2 | c.699-14T= (n.699-14T=) c.477-14T= (n.477-14T=) c.444-14T= (n.444-14T=) | |
2 | g.31526276A>C | CA767757099 | SRD5A2 | c.699-14T>G (n.699-14T>G) c.477-14T>G (n.477-14T>G) c.444-14T>G (n.444-14T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526276A>G | CA2658497230 | SRD5A2 | c.699-14T>C (n.699-14T>C) c.477-14T>C (n.477-14T>C) c.444-14T>C (n.444-14T>C) | gnomAD v4 |
2 | g.31526276A>T | CA2658497234 | SRD5A2 | c.699-14T>A (n.699-14T>A) c.477-14T>A (n.477-14T>A) c.444-14T>A (n.444-14T>A) | gnomAD v4 |
2 | g.31526277A= | CA1242195973 | SRD5A2 | c.699-15T= (n.699-15T=) c.477-15T= (n.477-15T=) c.444-15T= (n.444-15T=) | |
2 | g.31526277A>G | CA531710581 | SRD5A2 | c.699-15T>C (n.699-15T>C) c.477-15T>C (n.477-15T>C) c.444-15T>C (n.444-15T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526277A>T | CA1242195972 | SRD5A2 | c.699-15T>A (n.699-15T>A) c.477-15T>A (n.477-15T>A) c.444-15T>A (n.444-15T>A) | dbSNP |
2 | g.31526278G>A | CA2658497244 | SRD5A2 | c.699-16C>T (n.699-16C>T) c.477-16C>T (n.477-16C>T) c.444-16C>T (n.444-16C>T) | gnomAD v4 |
2 | g.31526278G>T | CA2658497243 | SRD5A2 | c.699-16C>A (n.699-16C>A) c.477-16C>A (n.477-16C>A) c.444-16C>A (n.444-16C>A) | gnomAD v4 |
2 | g.31526279G>T | CA2658497246 | SRD5A2 | c.699-17C>A (n.699-17C>A) c.477-17C>A (n.477-17C>A) c.444-17C>A (n.444-17C>A) | gnomAD v4 |
2 | g.31526280A= | CA1242195974 | SRD5A2 | c.699-18T= (n.699-18T=) c.477-18T= (n.477-18T=) c.444-18T= (n.444-18T=) | |
2 | g.31526280A>G | CA45135979 | SRD5A2 | c.699-18T>C (n.699-18T>C) c.477-18T>C (n.477-18T>C) c.444-18T>C (n.444-18T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526282T>A | CA2658497251 | SRD5A2 | c.699-20A>T (n.699-20A>T) c.477-20A>T (n.477-20A>T) c.444-20A>T (n.444-20A>T) | gnomAD v4 |
2 | g.31526282T>C | CA531710582 | SRD5A2 | c.699-20A>G (n.699-20A>G) c.477-20A>G (n.477-20A>G) c.444-20A>G (n.444-20A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526282T= | CA1242195975 | SRD5A2 | c.699-20A= (n.699-20A=) c.477-20A= (n.477-20A=) c.444-20A= (n.444-20A=) | |
2 | g.31526283A>T | CA2658497262 | SRD5A2 | c.699-21T>A (n.699-21T>A) c.477-21T>A (n.477-21T>A) c.444-21T>A (n.444-21T>A) | gnomAD v4 |
2 | g.31526286_31526292del | CA2658497258 | SRD5A2 | c.699-27_699-21del (n.699-27_699-21del) c.477-27_477-21del (n.477-27_477-21del) c.444-27_444-21del (n.444-27_444-21del) | gnomAD v4 |
2 | g.31526284A= | CA1242195976 | SRD5A2 | c.699-22T= (n.699-22T=) c.477-22T= (n.477-22T=) c.444-22T= (n.444-22T=) | |
2 | g.31526284A>C | CA1599852 | SRD5A2 | c.699-22T>G (n.699-22T>G) c.477-22T>G (n.477-22T>G) c.444-22T>G (n.444-22T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526284A>G | CA2658497271 | SRD5A2 | c.699-22T>C (n.699-22T>C) c.477-22T>C (n.477-22T>C) c.444-22T>C (n.444-22T>C) | gnomAD v4 |
2 | g.31526285T>C | CA531710583 | SRD5A2 | c.699-23A>G (n.699-23A>G) c.477-23A>G (n.477-23A>G) c.444-23A>G (n.444-23A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526285T= | CA1242195977 | SRD5A2 | c.699-23A= (n.699-23A=) c.477-23A= (n.477-23A=) c.444-23A= (n.444-23A=) | |
2 | g.31526286del | CA2658497277 | SRD5A2 | c.699-23del (n.699-23del) c.477-23del (n.477-23del) c.444-23del (n.444-23del) | gnomAD v4 |
2 | g.31526287G>A | CA1028961314 | SRD5A2 | c.699-25C>T (n.699-25C>T) c.477-25C>T (n.477-25C>T) c.444-25C>T (n.444-25C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526287G= | CA1242195979 | SRD5A2 | c.699-25C= (n.699-25C=) c.477-25C= (n.477-25C=) c.444-25C= (n.444-25C=) | |
2 | g.31526287G>T | CA2658497284 | SRD5A2 | c.699-25C>A (n.699-25C>A) c.477-25C>A (n.477-25C>A) c.444-25C>A (n.444-25C>A) | gnomAD v4 |
2 | g.31526287_31526291delinsGTAAA | CA1242195978 | SRD5A2 | c.699-29_699-25delinsTTTAC (n.699-29_699-25delinsTTTAC) c.477-29_477-25delinsTTTAC (n.477-29_477-25delinsTTTAC) c.444-29_444-25delinsTTTAC (n.444-29_444-25delinsTTTAC) | |
2 | g.31526288T>A | CA2658497291 | SRD5A2 | c.699-26A>T (n.699-26A>T) c.477-26A>T (n.477-26A>T) c.444-26A>T (n.444-26A>T) | gnomAD v4 |
2 | g.31526288T>C | CA1028961317 | SRD5A2 | c.699-26A>G (n.699-26A>G) c.477-26A>G (n.477-26A>G) c.444-26A>G (n.444-26A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526288T= | CA1242195980 | SRD5A2 | c.699-26A= (n.699-26A=) c.477-26A= (n.477-26A=) c.444-26A= (n.444-26A=) | |
2 | g.31526290_31526293del | CA767757105 | SRD5A2 | c.699-29_699-26del (n.699-29_699-26del) c.477-29_477-26del (n.477-29_477-26del) c.444-29_444-26del (n.444-29_444-26del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526291del | CA2658497293 | SRD5A2 | c.699-27del (n.699-27del) c.477-27del (n.477-27del) c.444-27del (n.444-27del) | gnomAD v4 |
2 | g.31526290A>G | CA2749374951 | SRD5A2 | c.699-28T>C (n.699-28T>C) c.477-28T>C (n.477-28T>C) c.444-28T>C (n.444-28T>C) | |
2 | g.31526290A>T | CA2658497295 | SRD5A2 | c.699-28T>A (n.699-28T>A) c.477-28T>A (n.477-28T>A) c.444-28T>A (n.444-28T>A) | gnomAD v4 |
2 | g.31526291A= | CA1242195981 | SRD5A2 | c.699-29T= (n.699-29T=) c.477-29T= (n.477-29T=) c.444-29T= (n.444-29T=) | |
2 | g.31526291A>C | CA531710584 | SRD5A2 | c.699-29T>G (n.699-29T>G) c.477-29T>G (n.477-29T>G) c.444-29T>G (n.444-29T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526293A= | CA1242195982 | SRD5A2 | c.699-31T= (n.699-31T=) c.477-31T= (n.477-31T=) c.444-31T= (n.444-31T=) | |
2 | g.31526293A>G | CA45135980 | SRD5A2 | c.699-31T>C (n.699-31T>C) c.477-31T>C (n.477-31T>C) c.444-31T>C (n.444-31T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526293A>T | CA1599853 | SRD5A2 | c.699-31T>A (n.699-31T>A) c.477-31T>A (n.477-31T>A) c.444-31T>A (n.444-31T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526294T>A | CA2576929361 | SRD5A2 | c.699-32A>T (n.699-32A>T) c.477-32A>T (n.477-32A>T) c.444-32A>T (n.444-32A>T) | gnomAD v4 |
2 | g.31526294T>C | CA2658497305 | SRD5A2 | c.699-32A>G (n.699-32A>G) c.477-32A>G (n.477-32A>G) c.444-32A>G (n.444-32A>G) | gnomAD v4 |
2 | g.31526296A= | CA1242195983 | SRD5A2 | c.699-34T= (n.699-34T=) c.477-34T= (n.477-34T=) c.444-34T= (n.444-34T=) | |
2 | g.31526296A>G | CA531710590 | SRD5A2 | c.699-34T>C (n.699-34T>C) c.477-34T>C (n.477-34T>C) c.444-34T>C (n.444-34T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526296A>T | CA1599854 | SRD5A2 | c.699-34T>A (n.699-34T>A) c.477-34T>A (n.477-34T>A) c.444-34T>A (n.444-34T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31526297T>A | CA2658497319 | SRD5A2 | c.699-35A>T (n.699-35A>T) c.477-35A>T (n.477-35A>T) c.444-35A>T (n.444-35A>T) | gnomAD v4 |
2 | g.31526297T>C | CA2658497321 | SRD5A2 | c.699-35A>G (n.699-35A>G) c.477-35A>G (n.477-35A>G) c.444-35A>G (n.444-35A>G) | gnomAD v4 |
2 | g.31526298G>A | CA2658497323 | SRD5A2 | c.699-36C>T (n.699-36C>T) c.477-36C>T (n.477-36C>T) c.444-36C>T (n.444-36C>T) | gnomAD v4 |
2 | g.31526298G>T | CA2576929362 | SRD5A2 | c.699-36C>A (n.699-36C>A) c.477-36C>A (n.477-36C>A) c.444-36C>A (n.444-36C>A) | gnomAD v4 |
2 | g.31526299G>T | CA2658497326 | SRD5A2 | c.699-37C>A (n.699-37C>A) c.477-37C>A (n.477-37C>A) c.444-37C>A (n.444-37C>A) | gnomAD v4 |
2 | g.31526300A>G | CA2658497327 | SRD5A2 | c.699-38T>C (n.699-38T>C) c.477-38T>C (n.477-38T>C) c.444-38T>C (n.444-38T>C) | gnomAD v4 |
2 | g.31526301G>A | CA2658497328 | SRD5A2 | c.699-39C>T (n.699-39C>T) c.477-39C>T (n.477-39C>T) c.444-39C>T (n.444-39C>T) | gnomAD v4 |
2 | g.31526301G= | CA1242195984 | SRD5A2 | c.699-39C= (n.699-39C=) c.477-39C= (n.477-39C=) c.444-39C= (n.444-39C=) | |
2 | g.31526301G>T | CA1242195985 | SRD5A2 | c.699-39C>A (n.699-39C>A) c.477-39C>A (n.477-39C>A) c.444-39C>A (n.444-39C>A) | dbSNP gnomAD v4 |
2 | g.31526302C>A | CA2658497331 | SRD5A2 | c.699-40G>T (n.699-40G>T) c.477-40G>T (n.477-40G>T) c.444-40G>T (n.444-40G>T) | gnomAD v4 |
2 | g.31526302C= | CA1242195986 | SRD5A2 | c.699-40G= (n.699-40G=) c.477-40G= (n.477-40G=) c.444-40G= (n.444-40G=) | |
2 | g.31526302C>G | CA767757119 | SRD5A2 | c.699-40G>C (n.699-40G>C) c.477-40G>C (n.477-40G>C) c.444-40G>C (n.444-40G>C) | dbSNP |
2 | g.31526302C>T | CA2658497333 | SRD5A2 | c.699-40G>A (n.699-40G>A) c.477-40G>A (n.477-40G>A) c.444-40G>A (n.444-40G>A) | gnomAD v4 |
2 | g.31526304G>A | CA531710592 | SRD5A2 | c.699-42C>T (n.699-42C>T) c.477-42C>T (n.477-42C>T) c.444-42C>T (n.444-42C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526304G= | CA1242195987 | SRD5A2 | c.699-42C= (n.699-42C=) c.477-42C= (n.477-42C=) c.444-42C= (n.444-42C=) | |
2 | g.31526305T>A | CA2658497340 | SRD5A2 | c.699-43A>T (n.699-43A>T) c.477-43A>T (n.477-43A>T) c.444-43A>T (n.444-43A>T) | gnomAD v4 |
2 | g.31526305T>C | CA531710595 | SRD5A2 | c.699-43A>G (n.699-43A>G) c.477-43A>G (n.477-43A>G) c.444-43A>G (n.444-43A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526305T>G | CA2658497341 | SRD5A2 | c.699-43A>C (n.699-43A>C) c.477-43A>C (n.477-43A>C) c.444-43A>C (n.444-43A>C) | gnomAD v4 |
2 | g.31526305T= | CA1242195988 | SRD5A2 | c.699-43A= (n.699-43A=) c.477-43A= (n.477-43A=) c.444-43A= (n.444-43A=) | |
2 | g.31526306G>T | CA2576929363 | SRD5A2 | c.699-44C>A (n.699-44C>A) c.477-44C>A (n.477-44C>A) c.444-44C>A (n.444-44C>A) | gnomAD v4 |
2 | g.31526307G>T | CA2658497344 | SRD5A2 | c.699-45C>A (n.699-45C>A) c.477-45C>A (n.477-45C>A) c.444-45C>A (n.444-45C>A) | gnomAD v4 |
2 | g.31526308C>A | CA2658497345 | SRD5A2 | c.699-46G>T (n.699-46G>T) c.477-46G>T (n.477-46G>T) c.444-46G>T (n.444-46G>T) | gnomAD v4 |
2 | g.31526309T>C | CA2658497347 | SRD5A2 | c.699-47A>G (n.699-47A>G) c.477-47A>G (n.477-47A>G) c.444-47A>G (n.444-47A>G) | gnomAD v4 |
2 | g.31526310G>T | CA2658497348 | SRD5A2 | c.699-48C>A (n.699-48C>A) c.477-48C>A (n.477-48C>A) c.444-48C>A (n.444-48C>A) | gnomAD v4 |
2 | g.31526311A>G | CA2658497349 | SRD5A2 | c.699-49T>C (n.699-49T>C) c.477-49T>C (n.477-49T>C) c.444-49T>C (n.444-49T>C) | dbSNP gnomAD v4 |
2 | g.31526314G>A | CA2658497351 | SRD5A2 | c.699-52C>T (n.699-52C>T) c.477-52C>T (n.477-52C>T) c.444-52C>T (n.444-52C>T) | gnomAD v4 |
2 | g.31526314G>T | CA2658497350 | SRD5A2 | c.699-52C>A (n.699-52C>A) c.477-52C>A (n.477-52C>A) c.444-52C>A (n.444-52C>A) | gnomAD v4 |
2 | g.31526315C>G | CA2658497352 | SRD5A2 | c.699-53G>C (n.699-53G>C) c.477-53G>C (n.477-53G>C) c.444-53G>C (n.444-53G>C) | gnomAD v4 |
2 | g.31526316T>A | CA2576929364 | SRD5A2 | c.699-54A>T (n.699-54A>T) c.477-54A>T (n.477-54A>T) c.444-54A>T (n.444-54A>T) | |
2 | g.31526316T>C | CA45135981 | SRD5A2 | c.699-54A>G (n.699-54A>G) c.477-54A>G (n.477-54A>G) c.444-54A>G (n.444-54A>G) | dbSNP gnomAD v4 |
2 | g.31526316T= | CA1242195989 | SRD5A2 | c.699-54A= (n.699-54A=) c.477-54A= (n.477-54A=) c.444-54A= (n.444-54A=) | |
2 | g.31526317G>T | CA2576929365 | SRD5A2 | c.699-55C>A (n.699-55C>A) c.477-55C>A (n.477-55C>A) c.444-55C>A (n.444-55C>A) | gnomAD v4 |
2 | g.31526319G>C | CA1242195991 | SRD5A2 | c.699-57C>G (n.699-57C>G) c.477-57C>G (n.477-57C>G) c.444-57C>G (n.444-57C>G) | dbSNP |
2 | g.31526319G= | CA1242195990 | SRD5A2 | c.699-57C= (n.699-57C=) c.477-57C= (n.477-57C=) c.444-57C= (n.444-57C=) | |
2 | g.31526319G>T | CA2658497359 | SRD5A2 | c.699-57C>A (n.699-57C>A) c.477-57C>A (n.477-57C>A) c.444-57C>A (n.444-57C>A) | gnomAD v4 |
2 | g.31526320G>T | CA2658497360 | SRD5A2 | c.699-58C>A (n.699-58C>A) c.477-58C>A (n.477-58C>A) c.444-58C>A (n.444-58C>A) | gnomAD v4 |
2 | g.31526322T>A | CA2658497361 | SRD5A2 | c.699-60A>T (n.699-60A>T) c.477-60A>T (n.477-60A>T) c.444-60A>T (n.444-60A>T) | gnomAD v4 |
2 | g.31526322T>G | CA2576929366 | SRD5A2 | c.699-60A>C (n.699-60A>C) c.477-60A>C (n.477-60A>C) c.444-60A>C (n.444-60A>C) | gnomAD v4 |
2 | g.31526323T>C | CA2658497362 | SRD5A2 | c.699-61A>G (n.699-61A>G) c.477-61A>G (n.477-61A>G) c.444-61A>G (n.444-61A>G) | gnomAD v4 |
2 | g.31526323T>G | CA2576929367 | SRD5A2 | c.699-61A>C (n.699-61A>C) c.477-61A>C (n.477-61A>C) c.444-61A>C (n.444-61A>C) | gnomAD v4 |