Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.74339654G>A | CA393147081 | CYP11A1 | c.1090C>T (p.Gln364Ter) c.616C>T (p.Gln206Ter) | |
15 | g.74339654G>C | CA393147082 | CYP11A1 | c.1090C>G (p.Gln364Glu) c.616C>G (p.Gln206Glu) | |
15 | g.74339654G= | CA2187637937 | CYP11A1 | c.1090C= (p.Gln364=) c.616C= (p.Gln206=) | |
15 | g.74339654G>T | CA7656376 | CYP11A1 | c.1090C>A (p.Gln364Lys) c.616C>A (p.Gln206Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339655G>A | CA491194392 | CYP11A1 | c.1089C>T (p.Ala363=) c.615C>T (p.Ala205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.74339655G>C | CA491194393 | CYP11A1 | c.1089C>G (p.Ala363=) c.615C>G (p.Ala205=) | |
15 | g.74339655G= | CA2187637939 | CYP11A1 | c.1089C= (p.Ala363=) c.615C= (p.Ala205=) | |
15 | g.74339655G>T | CA491194394 | CYP11A1 | c.1089C>A (p.Ala363=) c.615C>A (p.Ala205=) | |
15 | g.74339656G>A | CA393147083 | CYP11A1 | c.1088C>T (p.Ala363Val) c.614C>T (p.Ala205Val) | |
15 | g.74339656G>C | CA393147084 | CYP11A1 | c.1088C>G (p.Ala363Gly) c.614C>G (p.Ala205Gly) | |
15 | g.74339656G>T | CA393147085 | CYP11A1 | c.1088C>A (p.Ala363Asp) c.614C>A (p.Ala205Asp) | |
15 | g.74339657C>A | CA393147087 | CYP11A1 | c.1087G>T (p.Ala363Ser) c.613G>T (p.Ala205Ser) | |
15 | g.74339657C= | CA2187637941 | CYP11A1 | c.1087G= (p.Ala363=) c.613G= (p.Ala205=) | |
15 | g.74339657C>G | CA393147086 | CYP11A1 | c.1087G>C (p.Ala363Pro) c.613G>C (p.Ala205Pro) | |
15 | g.74339657C>T | CA7656377 | CYP11A1 | c.1087G>A (p.Ala363Thr) c.613G>A (p.Ala205Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.74339658C>A | CA393147088 | CYP11A1 | c.1086G>T (p.Gln362His) c.612G>T (p.Gln204His) | |
15 | g.74339658C>G | CA393147089 | CYP11A1 | c.1086G>C (p.Gln362His) c.612G>C (p.Gln204His) | |
15 | g.74339658C>T | CA491194395 | CYP11A1 | c.1086G>A (p.Gln362=) c.612G>A (p.Gln204=) | |
15 | g.74339659T>A | CA393147090 | CYP11A1 | c.1085A>T (p.Gln362Leu) c.611A>T (p.Gln204Leu) | |
15 | g.74339659T>C | CA393147091 | CYP11A1 | c.1085A>G (p.Gln362Arg) c.611A>G (p.Gln204Arg) | |
15 | g.74339659T>G | CA393147092 | CYP11A1 | c.1085A>C (p.Gln362Pro) c.611A>C (p.Gln204Pro) | |
15 | g.74339660G>A | CA393147095 | CYP11A1 | c.1084C>T (p.Gln362Ter) c.610C>T (p.Gln204Ter) | |
15 | g.74339660G>C | CA393147093 | CYP11A1 | c.1084C>G (p.Gln362Glu) c.610C>G (p.Gln204Glu) | gnomAD v4 |
15 | g.74339660G>T | CA393147094 | CYP11A1 | c.1084C>A (p.Gln362Lys) c.610C>A (p.Gln204Lys) | |
15 | g.74339661G>A | CA491194396 | CYP11A1 | c.1083C>T (p.His361=) c.609C>T (p.His203=) | |
15 | g.74339661G>C | CA393147096 | CYP11A1 | c.1083C>G (p.His361Gln) c.609C>G (p.His203Gln) | |
15 | g.74339661G>T | CA393147097 | CYP11A1 | c.1083C>A (p.His361Gln) c.609C>A (p.His203Gln) | gnomAD v4 |
15 | g.74339662T>A | CA393147098 | CYP11A1 | c.1082A>T (p.His361Leu) c.608A>T (p.His203Leu) | dbSNP |
15 | g.74339662T>C | CA393147099 | CYP11A1 | c.1082A>G (p.His361Arg) c.608A>G (p.His203Arg) | gnomAD v4 |
15 | g.74339662T>G | CA393147100 | CYP11A1 | c.1082A>C (p.His361Pro) c.608A>C (p.His203Pro) | |
15 | g.74339662T= | CA2187637943 | CYP11A1 | c.1082A= (p.His361=) c.608A= (p.His203=) | |
15 | g.74339663G>A | CA7656378 | CYP11A1 | c.1081C>T (p.His361Tyr) c.607C>T (p.His203Tyr) | dbSNP ExAC gnomAD v2 |
15 | g.74339663G>C | CA393147101 | CYP11A1 | c.1081C>G (p.His361Asp) c.607C>G (p.His203Asp) | |
15 | g.74339663G= | CA2187637945 | CYP11A1 | c.1081C= (p.His361=) c.607C= (p.His203=) | |
15 | g.74339663G>T | CA393147102 | CYP11A1 | c.1081C>A (p.His361Asn) c.607C>A (p.His203Asn) | |
15 | g.74339664C>A | CA491194398 | CYP11A1 | c.1080G>T (p.Arg360=) c.606G>T (p.Arg202=) | |
15 | g.74339664C>G | CA491194399 | CYP11A1 | c.1080G>C (p.Arg360=) c.606G>C (p.Arg202=) | |
15 | g.74339664C>T | CA491194400 | CYP11A1 | c.1080G>A (p.Arg360=) c.606G>A (p.Arg202=) | |
15 | g.74339665C>A | CA393147103 | CYP11A1 | c.1079G>T (p.Arg360Leu) c.605G>T (p.Arg202Leu) | |
15 | g.74339665C= | CA2187637947 | CYP11A1 | c.1079G= (p.Arg360=) c.605G= (p.Arg202=) | |
15 | g.74339665C>G | CA393147104 | CYP11A1 | c.1079G>C (p.Arg360Pro) c.605G>C (p.Arg202Pro) | |
15 | g.74339665C>T | CA393147105 | CYP11A1 | c.1079G>A (p.Arg360Gln) c.605G>A (p.Arg202Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339665_74339668delinsCGCG | CA2187637948 | CYP11A1 | c.1076_1079delinsCGCG (p.Ala359=) c.602_605delinsCGCG (p.Ala201=) | |
15 | g.74339666G>A | CA393147106 | CYP11A1 | c.1078C>T (p.Arg360Trp) c.604C>T (p.Arg202Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.74339666G>C | CA393147107 | CYP11A1 | c.1078C>G (p.Arg360Gly) c.604C>G (p.Arg202Gly) | |
15 | g.74339666G= | CA2187637951 | CYP11A1 | c.1078C= (p.Arg360=) c.604C= (p.Arg202=) | |
15 | g.74339666G>T | CA491194401 | CYP11A1 | c.1078C>A (p.Arg360=) c.604C>A (p.Arg202=) | gnomAD v4 |
15 | g.74339666_74339668del | CA2187637950 | CYP11A1 | c.1076_1078del (p.Ala359_Arg360delinsGly) c.602_604del (p.Ala201_Arg202delinsGly) | dbSNP |
15 | g.74339667C>A | CA491194402 | CYP11A1 | c.1077G>T (p.Ala359=) c.603G>T (p.Ala201=) | |
15 | g.74339667C= | CA2187637953 | CYP11A1 | c.1077G= (p.Ala359=) c.603G= (p.Ala201=) | |
15 | g.74339667C>G | CA491194403 | CYP11A1 | c.1077G>C (p.Ala359=) c.603G>C (p.Ala201=) | |
15 | g.74339667C>T | CA272786979 | CYP11A1 | c.1077G>A (p.Ala359=) c.603G>A (p.Ala201=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339668G>A | CA127239 | CYP11A1 | c.1076C>T (p.Ala359Val) c.602C>T (p.Ala201Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.74339668G>C | CA393147109 | CYP11A1 | c.1076C>G (p.Ala359Gly) c.602C>G (p.Ala201Gly) | |
15 | g.74339668G= | CA2187637956 | CYP11A1 | c.1076C= (p.Ala359=) c.602C= (p.Ala201=) | |
15 | g.74339668G>T | CA393147108 | CYP11A1 | c.1076C>A (p.Ala359Glu) c.602C>A (p.Ala201Glu) | |
15 | g.74339669C>A | CA393147110 | CYP11A1 | c.1075G>T (p.Ala359Ser) c.601G>T (p.Ala201Ser) | gnomAD v4 |
15 | g.74339669C>G | CA393147111 | CYP11A1 | c.1075G>C (p.Ala359Pro) c.601G>C (p.Ala201Pro) | |
15 | g.74339669C>T | CA393147112 | CYP11A1 | c.1075G>A (p.Ala359Thr) c.601G>A (p.Ala201Thr) | |
15 | g.74339670A>C | CA491194404 | CYP11A1 | c.1074T>G (p.Ala358=) c.600T>G (p.Ala200=) | |
15 | g.74339670A>G | CA491194405 | CYP11A1 | c.1074T>C (p.Ala358=) c.600T>C (p.Ala200=) | |
15 | g.74339670A>T | CA491194406 | CYP11A1 | c.1074T>A (p.Ala358=) c.600T>A (p.Ala200=) | |
15 | g.74339671G>A | CA393147113 | CYP11A1 | c.1073C>T (p.Ala358Val) c.599C>T (p.Ala200Val) | ClinVar dbSNP gnomAD v4 |
15 | g.74339671G>C | CA393147114 | CYP11A1 | c.1073C>G (p.Ala358Gly) c.599C>G (p.Ala200Gly) | |
15 | g.74339671G= | CA2187637959 | CYP11A1 | c.1073C= (p.Ala358=) c.599C= (p.Ala200=) | |
15 | g.74339671G>T | CA393147115 | CYP11A1 | c.1073C>A (p.Ala358Asp) c.599C>A (p.Ala200Asp) | |
15 | g.74339671_74339675delinsGCCAA | CA2187637961 | CYP11A1 | c.1069_1073delinsTTGGC (p.Leu357=) c.595_599delinsTTGGC (p.Leu199=) | |
15 | g.74339672C>A | CA393147116 | CYP11A1 | c.1072G>T (p.Ala358Ser) c.598G>T (p.Ala200Ser) | gnomAD v4 |
15 | g.74339672C= | CA2187637964 | CYP11A1 | c.1072G= (p.Ala358=) c.598G= (p.Ala200=) | |
15 | g.74339672C>G | CA393147117 | CYP11A1 | c.1072G>C (p.Ala358Pro) c.598G>C (p.Ala200Pro) | |
15 | g.74339672C>T | CA7656379 | CYP11A1 | c.1072G>A (p.Ala358Thr) c.598G>A (p.Ala200Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339672_74339675del | CA2187637963 | CYP11A1 | c.1069_1072del (p.Ala358ArgfsTer27) c.595_598del (p.Ala200ArgfsTer27) | dbSNP |
15 | g.74339673C>A | CA393147118 | CYP11A1 | c.1071G>T (p.Leu357Phe) c.597G>T (p.Leu199Phe) | |
15 | g.74339673C= | CA2187637965 | CYP11A1 | c.1071G= (p.Leu357=) c.597G= (p.Leu199=) | |
15 | g.74339673C>G | CA393147119 | CYP11A1 | c.1071G>C (p.Leu357Phe) c.597G>C (p.Leu199Phe) | |
15 | g.74339673C>T | CA272786998 | CYP11A1 | c.1071G>A (p.Leu357=) c.597G>A (p.Leu199=) | dbSNP |
15 | g.74339674A>C | CA393147120 | CYP11A1 | c.1070T>G (p.Leu357Trp) c.596T>G (p.Leu199Trp) | |
15 | g.74339674A>G | CA393147121 | CYP11A1 | c.1070T>C (p.Leu357Ser) c.596T>C (p.Leu199Ser) | gnomAD v4 |
15 | g.74339674A>T | CA393147122 | CYP11A1 | c.1070T>A (p.Leu357Ter) c.596T>A (p.Leu199Ter) | |
15 | g.74339675A= | CA2187637967 | CYP11A1 | c.1069T= (p.Leu357=) c.595T= (p.Leu199=) | |
15 | g.74339675A>C | CA393147123 | CYP11A1 | c.1069T>G (p.Leu357Val) c.595T>G (p.Leu199Val) | |
15 | g.74339675A>G | CA491194407 | CYP11A1 | c.1069T>C (p.Leu357=) c.595T>C (p.Leu199=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339675A>T | CA393147124 | CYP11A1 | c.1069T>A (p.Leu357Met) c.595T>A (p.Leu199Met) | |
15 | g.74339676G>A | CA272787000 | CYP11A1 | c.1068C>T (p.Val356=) c.594C>T (p.Val198=) | dbSNP |
15 | g.74339676G>C | CA491194408 | CYP11A1 | c.1068C>G (p.Val356=) c.594C>G (p.Val198=) | |
15 | g.74339676G= | CA2187637968 | CYP11A1 | c.1068C= (p.Val356=) c.594C= (p.Val198=) | |
15 | g.74339676G>T | CA491194409 | CYP11A1 | c.1068C>A (p.Val356=) c.594C>A (p.Val198=) | |
15 | g.74339677A>C | CA393147125 | CYP11A1 | c.1067T>G (p.Val356Gly) c.593T>G (p.Val198Gly) | |
15 | g.74339677A>G | CA393147126 | CYP11A1 | c.1067T>C (p.Val356Ala) c.593T>C (p.Val198Ala) | |
15 | g.74339677A>T | CA393147127 | CYP11A1 | c.1067T>A (p.Val356Asp) c.593T>A (p.Val198Asp) | |
15 | g.74339678C>A | CA393147128 | CYP11A1 | c.1066G>T (p.Val356Phe) c.592G>T (p.Val198Phe) | |
15 | g.74339678C>G | CA393147129 | CYP11A1 | c.1066G>C (p.Val356Leu) c.592G>C (p.Val198Leu) | |
15 | g.74339678C>T | CA393147130 | CYP11A1 | c.1066G>A (p.Val356Ile) c.592G>A (p.Val198Ile) | |
15 | g.74339679C>A | CA393147131 | CYP11A1 | c.1065G>T (p.Glu355Asp) c.591G>T (p.Glu197Asp) | |
15 | g.74339679C= | CA2187637970 | CYP11A1 | c.1065G= (p.Glu355=) c.591G= (p.Glu197=) | |
15 | g.74339679C>G | CA393147132 | CYP11A1 | c.1065G>C (p.Glu355Asp) c.591G>C (p.Glu197Asp) | |
15 | g.74339679C>T | CA272787004 | CYP11A1 | c.1065G>A (p.Glu355=) c.591G>A (p.Glu197=) | dbSNP gnomAD v4 |
15 | g.74339680T>A | CA393147133 | CYP11A1 | c.1064A>T (p.Glu355Val) c.590A>T (p.Glu197Val) | |
15 | g.74339680T>C | CA393147134 | CYP11A1 | c.1064A>G (p.Glu355Gly) c.590A>G (p.Glu197Gly) | gnomAD v4 |
15 | g.74339680T>G | CA393147135 | CYP11A1 | c.1064A>C (p.Glu355Ala) c.590A>C (p.Glu197Ala) | |
15 | g.74339680T= | CA2187637972 | CYP11A1 | c.1064A= (p.Glu355=) c.590A= (p.Glu197=) | |
15 | g.74339680_74339681insGGG | CA2187637974 | CYP11A1 | c.1063_1064insCCC (p.Glu355delinsAlaGln) c.589_590insCCC (p.Glu197delinsAlaGln) | dbSNP |
15 | g.74339681C>A | CA393147136 | CYP11A1 | c.1063G>T (p.Glu355Ter) c.589G>T (p.Glu197Ter) | |
15 | g.74339681C>G | CA393147138 | CYP11A1 | c.1063G>C (p.Glu355Gln) c.589G>C (p.Glu197Gln) | |
15 | g.74339681C>T | CA393147137 | CYP11A1 | c.1063G>A (p.Glu355Lys) c.589G>A (p.Glu197Lys) | |
15 | g.74339682T>A | CA491194410 | CYP11A1 | c.1062A>T (p.Ala354=) c.588A>T (p.Ala196=) | dbSNP |
15 | g.74339682T>C | CA491194412 | CYP11A1 | c.1062A>G (p.Ala354=) c.588A>G (p.Ala196=) | |
15 | g.74339682T>G | CA491194411 | CYP11A1 | c.1062A>C (p.Ala354=) c.588A>C (p.Ala196=) | |
15 | g.74339682T= | CA2187637976 | CYP11A1 | c.1062A= (p.Ala354=) c.588A= (p.Ala196=) | |
15 | g.74339683G>A | CA393147139 | CYP11A1 | c.1061C>T (p.Ala354Val) c.587C>T (p.Ala196Val) | ClinVar |
15 | g.74339683G>C | CA393147141 | CYP11A1 | c.1061C>G (p.Ala354Gly) c.587C>G (p.Ala196Gly) | |
15 | g.74339683G= | CA2187637977 | CYP11A1 | c.1061C= (p.Ala354=) c.587C= (p.Ala196=) | |
15 | g.74339683G>T | CA393147140 | CYP11A1 | c.1061C>A (p.Ala354Glu) c.587C>A (p.Ala196Glu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339684C>A | CA7656380 | CYP11A1 | c.1060G>T (p.Ala354Ser) c.586G>T (p.Ala196Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339684C= | CA2187637979 | CYP11A1 | c.1060G= (p.Ala354=) c.586G= (p.Ala196=) | |
15 | g.74339684C>G | CA393147143 | CYP11A1 | c.1060G>C (p.Ala354Pro) c.586G>C (p.Ala196Pro) | |
15 | g.74339684C>T | CA393147142 | CYP11A1 | c.1060G>A (p.Ala354Thr) c.586G>A (p.Ala196Thr) | gnomAD v4 |
15 | g.74339685C>A | CA491194413 | CYP11A1 | c.1059G>T (p.Arg353=) c.585G>T (p.Arg195=) | |
15 | g.74339685C= | CA2187637981 | CYP11A1 | c.1059G= (p.Arg353=) c.585G= (p.Arg195=) | |
15 | g.74339685C>G | CA491194414 | CYP11A1 | c.1059G>C (p.Arg353=) c.585G>C (p.Arg195=) | |
15 | g.74339685C>T | CA491194415 | CYP11A1 | c.1059G>A (p.Arg353=) c.585G>A (p.Arg195=) | dbSNP |
15 | g.74339686C>A | CA393147144 | CYP11A1 | c.1058G>T (p.Arg353Leu) c.584G>T (p.Arg195Leu) | |
15 | g.74339686C= | CA2187637982 | CYP11A1 | c.1058G= (p.Arg353=) c.584G= (p.Arg195=) | |
15 | g.74339686C>G | CA393147145 | CYP11A1 | c.1058G>C (p.Arg353Pro) c.584G>C (p.Arg195Pro) | dbSNP gnomAD v4 |
15 | g.74339686C>T | CA7656381 | CYP11A1 | c.1058G>A (p.Arg353Gln) c.584G>A (p.Arg195Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.74339687G>A | CA127237 | CYP11A1 | c.1057C>T (p.Arg353Trp) c.583C>T (p.Arg195Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339687G>C | CA393147146 | CYP11A1 | c.1057C>G (p.Arg353Gly) c.583C>G (p.Arg195Gly) | gnomAD v4 |
15 | g.74339687G= | CA2187637985 | CYP11A1 | c.1057C= (p.Arg353=) c.583C= (p.Arg195=) | |
15 | g.74339687G>T | CA491194416 | CYP11A1 | c.1057C>A (p.Arg353=) c.583C>A (p.Arg195=) | |
15 | g.74339688C>A | CA491194417 | CYP11A1 | c.1056G>T (p.Leu352=) c.582G>T (p.Leu194=) | |
15 | g.74339688C>G | CA491194419 | CYP11A1 | c.1056G>C (p.Leu352=) c.582G>C (p.Leu194=) | |
15 | g.74339688C>T | CA491194418 | CYP11A1 | c.1056G>A (p.Leu352=) c.582G>A (p.Leu194=) | |
15 | g.74339689A>C | CA393147147 | CYP11A1 | c.1055T>G (p.Leu352Arg) c.581T>G (p.Leu194Arg) | |
15 | g.74339689A>G | CA393147148 | CYP11A1 | c.1055T>C (p.Leu352Pro) c.581T>C (p.Leu194Pro) | |
15 | g.74339689A>T | CA393147149 | CYP11A1 | c.1055T>A (p.Leu352Gln) c.581T>A (p.Leu194Gln) | |
15 | g.74339690G>A | CA491194420 | CYP11A1 | c.1054C>T (p.Leu352=) c.580C>T (p.Leu194=) | |
15 | g.74339690G>C | CA393147150 | CYP11A1 | c.1054C>G (p.Leu352Val) c.580C>G (p.Leu194Val) | |
15 | g.74339690G>T | CA393147151 | CYP11A1 | c.1054C>A (p.Leu352Met) c.580C>A (p.Leu194Met) | |
15 | g.74339691C>A | CA393147152 | CYP11A1 | c.1053G>T (p.Met351Ile) c.579G>T (p.Met193Ile) | |
15 | g.74339691C>G | CA393147153 | CYP11A1 | c.1053G>C (p.Met351Ile) c.579G>C (p.Met193Ile) | |
15 | g.74339691C>T | CA393147154 | CYP11A1 | c.1053G>A (p.Met351Ile) c.579G>A (p.Met193Ile) | dbSNP |
15 | g.74339692A= | CA2187637988 | CYP11A1 | c.1052T= (p.Met351=) c.578T= (p.Met193=) | |
15 | g.74339692A>C | CA393147155 | CYP11A1 | c.1052T>G (p.Met351Arg) c.578T>G (p.Met193Arg) | |
15 | g.74339692A>G | CA393147156 | CYP11A1 | c.1052T>C (p.Met351Thr) c.578T>C (p.Met193Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74339692A>T | CA393147157 | CYP11A1 | c.1052T>A (p.Met351Lys) c.578T>A (p.Met193Lys) | |
15 | g.74339693T>A | CA393147160 | CYP11A1 | c.1051A>T (p.Met351Leu) c.577A>T (p.Met193Leu) | |
15 | g.74339693T>C | CA393147159 | CYP11A1 | c.1051A>G (p.Met351Val) c.577A>G (p.Met193Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74339693T>G | CA393147158 | CYP11A1 | c.1051A>C (p.Met351Leu) c.577A>C (p.Met193Leu) | |
15 | g.74339693T= | CA2187637989 | CYP11A1 | c.1051A= (p.Met351=) c.577A= (p.Met193=) | |
15 | g.74339694A>C | CA393147161 | CYP11A1 | c.1050T>G (p.Asp350Glu) c.576T>G (p.Asp192Glu) | |
15 | g.74339694A>G | CA491194421 | CYP11A1 | c.1050T>C (p.Asp350=) c.576T>C (p.Asp192=) | |
15 | g.74339694A>T | CA393147162 | CYP11A1 | c.1050T>A (p.Asp350Glu) c.576T>A (p.Asp192Glu) | |
15 | g.74339695del | CA2629468526 | CYP11A1 | c.1049del (p.Asp350ValfsTer?) c.575del (p.Asp192ValfsTer?) | gnomAD v4 |
15 | g.74339695T>A | CA393147163 | CYP11A1 | c.1049A>T (p.Asp350Val) c.575A>T (p.Asp192Val) | |
15 | g.74339695T>C | CA393147164 | CYP11A1 | c.1049A>G (p.Asp350Gly) c.575A>G (p.Asp192Gly) | |
15 | g.74339695T>G | CA393147165 | CYP11A1 | c.1049A>C (p.Asp350Ala) c.575A>C (p.Asp192Ala) | |
15 | g.74339696C>A | CA393147166 | CYP11A1 | c.1048G>T (p.Asp350Tyr) c.574G>T (p.Asp192Tyr) | |
15 | g.74339696C>G | CA393147167 | CYP11A1 | c.1048G>C (p.Asp350His) c.574G>C (p.Asp192His) | |
15 | g.74339696C>T | CA393147168 | CYP11A1 | c.1048G>A (p.Asp350Asn) c.574G>A (p.Asp192Asn) | |
15 | g.74339697C>A | CA393147169 | CYP11A1 | c.1047G>T (p.Gln349His) c.573G>T (p.Gln191His) | |
15 | g.74339697C= | CA2187637991 | CYP11A1 | c.1047G= (p.Gln349=) c.573G= (p.Gln191=) | |
15 | g.74339697C>G | CA393147170 | CYP11A1 | c.1047G>C (p.Gln349His) c.573G>C (p.Gln191His) | |
15 | g.74339697C>T | CA7656382 | CYP11A1 | c.1047G>A (p.Gln349=) c.573G>A (p.Gln191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339698T>A | CA393147171 | CYP11A1 | c.1046A>T (p.Gln349Leu) c.572A>T (p.Gln191Leu) | |
15 | g.74339698T>C | CA393147172 | CYP11A1 | c.1046A>G (p.Gln349Arg) c.572A>G (p.Gln191Arg) | |
15 | g.74339698T>G | CA393147173 | CYP11A1 | c.1046A>C (p.Gln349Pro) c.572A>C (p.Gln191Pro) | |
15 | g.74339699G>A | CA393147175 | CYP11A1 | c.1045C>T (p.Gln349Ter) c.571C>T (p.Gln191Ter) | |
15 | g.74339699G>C | CA393147174 | CYP11A1 | c.1045C>G (p.Gln349Glu) c.571C>G (p.Gln191Glu) | |
15 | g.74339699G= | CA2187637993 | CYP11A1 | c.1045C= (p.Gln349=) c.571C= (p.Gln191=) | |
15 | g.74339699G>T | CA7656383 | CYP11A1 | c.1045C>A (p.Gln349Lys) c.571C>A (p.Gln191Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339700C>A | CA491194422 | CYP11A1 | c.1044G>T (p.Val348=) c.570G>T (p.Val190=) | |
15 | g.74339700C>G | CA491194423 | CYP11A1 | c.1044G>C (p.Val348=) c.570G>C (p.Val190=) | |
15 | g.74339700C>T | CA491194424 | CYP11A1 | c.1044G>A (p.Val348=) c.570G>A (p.Val190=) | |
15 | g.74339701A>C | CA393147176 | CYP11A1 | c.1043T>G (p.Val348Gly) c.569T>G (p.Val190Gly) | |
15 | g.74339701A>G | CA393147177 | CYP11A1 | c.1043T>C (p.Val348Ala) c.569T>C (p.Val190Ala) | |
15 | g.74339701A>T | CA393147178 | CYP11A1 | c.1043T>A (p.Val348Glu) c.569T>A (p.Val190Glu) | |
15 | g.74339702C>A | CA393147179 | CYP11A1 | c.1042G>T (p.Val348Leu) c.568G>T (p.Val190Leu) | gnomAD v4 |
15 | g.74339702C= | CA2187637994 | CYP11A1 | c.1042G= (p.Val348=) c.568G= (p.Val190=) | |
15 | g.74339702C>G | CA393147180 | CYP11A1 | c.1042G>C (p.Val348Leu) c.568G>C (p.Val190Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339702C>T | CA393147181 | CYP11A1 | c.1042G>A (p.Val348Met) c.568G>A (p.Val190Met) | dbSNP gnomAD v4 |
15 | g.74339703C>A | CA393147182 | CYP11A1 | c.1041G>T (p.Lys347Asn) c.567G>T (p.Lys189Asn) | gnomAD v4 |
15 | g.74339703C= | CA2187637996 | CYP11A1 | c.1041G= (p.Lys347=) c.567G= (p.Lys189=) | |
15 | g.74339703C>G | CA393147183 | CYP11A1 | c.1041G>C (p.Lys347Asn) c.567G>C (p.Lys189Asn) | |
15 | g.74339703C>T | CA7656384 | CYP11A1 | c.1041G>A (p.Lys347=) c.567G>A (p.Lys189=) | dbSNP ExAC gnomAD v2 |
15 | g.74339704T>A | CA393147184 | CYP11A1 | c.1040A>T (p.Lys347Met) c.566A>T (p.Lys189Met) | |
15 | g.74339704T>C | CA393147185 | CYP11A1 | c.1040A>G (p.Lys347Arg) c.566A>G (p.Lys189Arg) | |
15 | g.74339704T>G | CA393147186 | CYP11A1 | c.1040A>C (p.Lys347Thr) c.566A>C (p.Lys189Thr) | |
15 | g.74339705T>A | CA393147189 | CYP11A1 | c.1039A>T (p.Lys347Ter) c.565A>T (p.Lys189Ter) | |
15 | g.74339705T>C | CA393147188 | CYP11A1 | c.1039A>G (p.Lys347Glu) c.565A>G (p.Lys189Glu) | |
15 | g.74339705T>G | CA393147187 | CYP11A1 | c.1039A>C (p.Lys347Gln) c.565A>C (p.Lys189Gln) | |
15 | g.74339706C>A | CA491194425 | CYP11A1 | c.1038G>T (p.Leu346=) c.564G>T (p.Leu188=) | |
15 | g.74339706C>G | CA491194426 | CYP11A1 | c.1038G>C (p.Leu346=) c.564G>C (p.Leu188=) | |
15 | g.74339706C>T | CA491194427 | CYP11A1 | c.1038G>A (p.Leu346=) c.564G>A (p.Leu188=) | |
15 | g.74339707A>C | CA393147190 | CYP11A1 | c.1037T>G (p.Leu346Arg) c.563T>G (p.Leu188Arg) | |
15 | g.74339707A>G | CA393147191 | CYP11A1 | c.1037T>C (p.Leu346Pro) c.563T>C (p.Leu188Pro) | |
15 | g.74339707A>T | CA393147192 | CYP11A1 | c.1037T>A (p.Leu346Gln) c.563T>A (p.Leu188Gln) | |
15 | g.74339708G>A | CA491194428 | CYP11A1 | c.1036C>T (p.Leu346=) c.562C>T (p.Leu188=) | |
15 | g.74339708G>C | CA393147193 | CYP11A1 | c.1036C>G (p.Leu346Val) c.562C>G (p.Leu188Val) | |
15 | g.74339708G>T | CA393147194 | CYP11A1 | c.1036C>A (p.Leu346Met) c.562C>A (p.Leu188Met) | |
15 | g.74339709G>A | CA491194429 | CYP11A1 | c.1035C>T (p.Asn345=) c.561C>T (p.Asn187=) | gnomAD v4 |
15 | g.74339709G>C | CA393147195 | CYP11A1 | c.1035C>G (p.Asn345Lys) c.561C>G (p.Asn187Lys) | |
15 | g.74339709G= | CA2187637998 | CYP11A1 | c.1035C= (p.Asn345=) c.561C= (p.Asn187=) | |
15 | g.74339709G>T | CA393147196 | CYP11A1 | c.1035C>A (p.Asn345Lys) c.561C>A (p.Asn187Lys) | dbSNP |
15 | g.74339710T>A | CA393147197 | CYP11A1 | c.1034A>T (p.Asn345Ile) c.560A>T (p.Asn187Ile) | |
15 | g.74339710T>C | CA393147198 | CYP11A1 | c.1034A>G (p.Asn345Ser) c.560A>G (p.Asn187Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339710T>G | CA393147199 | CYP11A1 | c.1034A>C (p.Asn345Thr) c.560A>C (p.Asn187Thr) | |
15 | g.74339710T= | CA2187637999 | CYP11A1 | c.1034A= (p.Asn345=) c.560A= (p.Asn187=) | |
15 | g.74339711T>A | CA393147200 | CYP11A1 | c.1033A>T (p.Asn345Tyr) c.559A>T (p.Asn187Tyr) | |
15 | g.74339711T>C | CA393147201 | CYP11A1 | c.1033A>G (p.Asn345Asp) c.559A>G (p.Asn187Asp) | |
15 | g.74339711T>G | CA393147202 | CYP11A1 | c.1033A>C (p.Asn345His) c.559A>C (p.Asn187His) | |
15 | g.74339712G>A | CA491194430 | CYP11A1 | c.1032C>T (p.Arg344=) c.558C>T (p.Arg186=) | gnomAD v4 |
15 | g.74339712G>C | CA491194431 | CYP11A1 | c.1032C>G (p.Arg344=) c.558C>G (p.Arg186=) | |
15 | g.74339712G>T | CA491194432 | CYP11A1 | c.1032C>A (p.Arg344=) c.558C>A (p.Arg186=) | |
15 | g.74339713C>A | CA393147203 | CYP11A1 | c.1031G>T (p.Arg344Leu) c.557G>T (p.Arg186Leu) | gnomAD v4 |
15 | g.74339713C= | CA2187638002 | CYP11A1 | c.1031G= (p.Arg344=) c.557G= (p.Arg186=) | |
15 | g.74339713C>G | CA393147204 | CYP11A1 | c.1031G>C (p.Arg344Pro) c.557G>C (p.Arg186Pro) | |
15 | g.74339713C>T | CA7656385 | CYP11A1 | c.1031G>A (p.Arg344His) c.557G>A (p.Arg186His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339714G>A | CA7656386 | CYP11A1 | c.1030C>T (p.Arg344Cys) c.556C>T (p.Arg186Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339714G>C | CA7656387 | CYP11A1 | c.1030C>G (p.Arg344Gly) c.556C>G (p.Arg186Gly) | dbSNP ExAC gnomAD v2 |
15 | g.74339714G= | CA2187638006 | CYP11A1 | c.1030C= (p.Arg344=) c.556C= (p.Arg186=) | |
15 | g.74339714G>T | CA7656388 | CYP11A1 | c.1030C>A (p.Arg344Ser) c.556C>A (p.Arg186Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339715T>A | CA491194433 | CYP11A1 | c.1029A>T (p.Ala343=) c.555A>T (p.Ala185=) | gnomAD v4 |
15 | g.74339715T>C | CA491194434 | CYP11A1 | c.1029A>G (p.Ala343=) c.555A>G (p.Ala185=) | gnomAD v4 |
15 | g.74339715T>G | CA491194435 | CYP11A1 | c.1029A>C (p.Ala343=) c.555A>C (p.Ala185=) | |
15 | g.74339716G>A | CA393147205 | CYP11A1 | c.1028C>T (p.Ala343Val) c.554C>T (p.Ala185Val) | COSMIC |
15 | g.74339716G>C | CA393147206 | CYP11A1 | c.1028C>G (p.Ala343Gly) c.554C>G (p.Ala185Gly) | |
15 | g.74339716G>T | CA393147207 | CYP11A1 | c.1028C>A (p.Ala343Glu) c.554C>A (p.Ala185Glu) | |
15 | g.74339717C>A | CA393147208 | CYP11A1 | c.1027G>T (p.Ala343Ser) c.553G>T (p.Ala185Ser) | |
15 | g.74339717C>G | CA393147209 | CYP11A1 | c.1027G>C (p.Ala343Pro) c.553G>C (p.Ala185Pro) | |
15 | g.74339717C>T | CA393147210 | CYP11A1 | c.1027G>A (p.Ala343Thr) c.553G>A (p.Ala185Thr) | |
15 | g.74339718C>A | CA393147211 | CYP11A1 | c.1026G>T (p.Met342Ile) c.552G>T (p.Met184Ile) | |
15 | g.74339718C= | CA2187638012 | CYP11A1 | c.1026G= (p.Met342=) c.552G= (p.Met184=) | |
15 | g.74339718C>G | CA393147212 | CYP11A1 | c.1026G>C (p.Met342Ile) c.552G>C (p.Met184Ile) | |
15 | g.74339718C>T | CA7656389 | CYP11A1 | c.1026G>A (p.Met342Ile) c.552G>A (p.Met184Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339719A= | CA2187638014 | CYP11A1 | c.1025T= (p.Met342=) c.551T= (p.Met184=) | |
15 | g.74339719A>C | CA393147213 | CYP11A1 | c.1025T>G (p.Met342Arg) c.551T>G (p.Met184Arg) | |
15 | g.74339719A>G | CA393147214 | CYP11A1 | c.1025T>C (p.Met342Thr) c.551T>C (p.Met184Thr) | dbSNP |
15 | g.74339719A>T | CA393147215 | CYP11A1 | c.1025T>A (p.Met342Lys) c.551T>A (p.Met184Lys) | |
15 | g.74339720T>A | CA393147218 | CYP11A1 | c.1024A>T (p.Met342Leu) c.550A>T (p.Met184Leu) | |
15 | g.74339720T>C | CA393147216 | CYP11A1 | c.1024A>G (p.Met342Val) c.550A>G (p.Met184Val) | |
15 | g.74339720T>G | CA393147217 | CYP11A1 | c.1024A>C (p.Met342Leu) c.550A>C (p.Met184Leu) | |
15 | g.74339721C>A | CA393147219 | CYP11A1 | c.1023G>T (p.Glu341Asp) c.549G>T (p.Glu183Asp) | |
15 | g.74339721C>G | CA393147220 | CYP11A1 | c.1023G>C (p.Glu341Asp) c.549G>C (p.Glu183Asp) | |
15 | g.74339721C>T | CA491194436 | CYP11A1 | c.1023G>A (p.Glu341=) c.549G>A (p.Glu183=) | |
15 | g.74339722T>A | CA393147221 | CYP11A1 | c.1022A>T (p.Glu341Val) c.548A>T (p.Glu183Val) | |
15 | g.74339722T>C | CA393147222 | CYP11A1 | c.1022A>G (p.Glu341Gly) c.548A>G (p.Glu183Gly) | |
15 | g.74339722T>G | CA393147223 | CYP11A1 | c.1022A>C (p.Glu341Ala) c.548A>C (p.Glu183Ala) | |
15 | g.74339723C>A | CA393147224 | CYP11A1 | c.1021G>T (p.Glu341Ter) c.547G>T (p.Glu183Ter) | |
15 | g.74339723C= | CA2187638017 | CYP11A1 | c.1021G= (p.Glu341=) c.547G= (p.Glu183=) | |
15 | g.74339723C>G | CA393147225 | CYP11A1 | c.1021G>C (p.Glu341Gln) c.547G>C (p.Glu183Gln) | |
15 | g.74339723C>T | CA7656390 | CYP11A1 | c.1021G>A (p.Glu341Lys) c.547G>A (p.Glu183Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339724A>C | CA393147226 | CYP11A1 | c.1020T>G (p.Tyr340Ter) c.546T>G (p.Tyr182Ter) | gnomAD v4 |
15 | g.74339724A>G | CA491194437 | CYP11A1 | c.1020T>C (p.Tyr340=) c.546T>C (p.Tyr182=) | ClinVar |
15 | g.74339724A>T | CA393147227 | CYP11A1 | c.1020T>A (p.Tyr340Ter) c.546T>A (p.Tyr182Ter) | |
15 | g.74339725T>A | CA393147230 | CYP11A1 | c.1019A>T (p.Tyr340Phe) c.545A>T (p.Tyr182Phe) | dbSNP gnomAD v4 |
15 | g.74339725T>C | CA393147229 | CYP11A1 | c.1019A>G (p.Tyr340Cys) c.545A>G (p.Tyr182Cys) | |
15 | g.74339725T>G | CA393147228 | CYP11A1 | c.1019A>C (p.Tyr340Ser) c.545A>C (p.Tyr182Ser) | |
15 | g.74339725T= | CA2187638020 | CYP11A1 | c.1019A= (p.Tyr340=) c.545A= (p.Tyr182=) | |
15 | g.74339726A>C | CA393147231 | CYP11A1 | c.1018T>G (p.Tyr340Asp) c.544T>G (p.Tyr182Asp) | |
15 | g.74339726A>G | CA393147232 | CYP11A1 | c.1018T>C (p.Tyr340His) c.544T>C (p.Tyr182His) | |
15 | g.74339726A>T | CA393147233 | CYP11A1 | c.1018T>A (p.Tyr340Asn) c.544T>A (p.Tyr182Asn) | |
15 | g.74339727C>A | CA393147234 | CYP11A1 | c.1017G>T (p.Leu339Phe) c.543G>T (p.Leu181Phe) | |
15 | g.74339727C= | CA2187638022 | CYP11A1 | c.1017G= (p.Leu339=) c.543G= (p.Leu181=) | |
15 | g.74339727C>G | CA393147235 | CYP11A1 | c.1017G>C (p.Leu339Phe) c.543G>C (p.Leu181Phe) | |
15 | g.74339727C>T | CA272787041 | CYP11A1 | c.1017G>A (p.Leu339=) c.543G>A (p.Leu181=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339728A>C | CA393147236 | CYP11A1 | c.1016T>G (p.Leu339Trp) c.542T>G (p.Leu181Trp) | |
15 | g.74339728A>G | CA393147237 | CYP11A1 | c.1016T>C (p.Leu339Ser) c.542T>C (p.Leu181Ser) | gnomAD v4 |
15 | g.74339728A>T | CA393147238 | CYP11A1 | c.1016T>A (p.Leu339Ter) c.542T>A (p.Leu181Ter) | |
15 | g.74339729A>C | CA393147239 | CYP11A1 | c.1015T>G (p.Leu339Val) c.541T>G (p.Leu181Val) | |
15 | g.74339729A>G | CA491194438 | CYP11A1 | c.1015T>C (p.Leu339=) c.541T>C (p.Leu181=) | |
15 | g.74339729A>T | CA393147240 | CYP11A1 | c.1015T>A (p.Leu339Met) c.541T>A (p.Leu181Met) | |
15 | g.74339730G>A | CA491194439 | CYP11A1 | c.1014C>T (p.His338=) c.540C>T (p.His180=) | gnomAD v4 |
15 | g.74339730G>C | CA393147241 | CYP11A1 | c.1014C>G (p.His338Gln) c.540C>G (p.His180Gln) | |
15 | g.74339730G>T | CA393147242 | CYP11A1 | c.1014C>A (p.His338Gln) c.540C>A (p.His180Gln) | |
15 | g.74339731T>A | CA393147245 | CYP11A1 | c.1013A>T (p.His338Leu) c.539A>T (p.His180Leu) | |
15 | g.74339731T>C | CA393147243 | CYP11A1 | c.1013A>G (p.His338Arg) c.539A>G (p.His180Arg) | |
15 | g.74339731T>G | CA393147244 | CYP11A1 | c.1013A>C (p.His338Pro) c.539A>C (p.His180Pro) | |
15 | g.74339732G>A | CA393147246 | CYP11A1 | c.1012C>T (p.His338Tyr) c.538C>T (p.His180Tyr) | |
15 | g.74339732G>C | CA393147247 | CYP11A1 | c.1012C>G (p.His338Asp) c.538C>G (p.His180Asp) | |
15 | g.74339732G= | CA2187638025 | CYP11A1 | c.1012C= (p.His338=) c.538C= (p.His180=) | |
15 | g.74339732G>T | CA393147248 | CYP11A1 | c.1012C>A (p.His338Asn) c.538C>A (p.His180Asn) | dbSNP |
15 | g.74339733C>A | CA393147249 | CYP11A1 | c.1011G>T (p.Trp337Cys) c.537G>T (p.Trp179Cys) | |
15 | g.74339733C>G | CA393147250 | CYP11A1 | c.1011G>C (p.Trp337Cys) c.537G>C (p.Trp179Cys) | gnomAD v4 |
15 | g.74339733C>T | CA393147251 | CYP11A1 | c.1011G>A (p.Trp337Ter) c.537G>A (p.Trp179Ter) | |
15 | g.74339734C>A | CA393147252 | CYP11A1 | c.1010G>T (p.Trp337Leu) c.536G>T (p.Trp179Leu) | |
15 | g.74339734C>G | CA393147253 | CYP11A1 | c.1010G>C (p.Trp337Ser) c.536G>C (p.Trp179Ser) | |
15 | g.74339734C>T | CA393147254 | CYP11A1 | c.1010G>A (p.Trp337Ter) c.536G>A (p.Trp179Ter) | |
15 | g.74339735A>C | CA393147255 | CYP11A1 | c.1009T>G (p.Trp337Gly) c.535T>G (p.Trp179Gly) | |
15 | g.74339735A>G | CA393147256 | CYP11A1 | c.1009T>C (p.Trp337Arg) c.535T>C (p.Trp179Arg) | |
15 | g.74339735A>T | CA393147257 | CYP11A1 | c.1009T>A (p.Trp337Arg) c.535T>A (p.Trp179Arg) | |
15 | g.74339735_74339738del | CA2569559637 | CYP11A1 | c.1006_1009del (p.Gln336GlyfsTer10) c.532_535del (p.Gln178GlyfsTer10) | |
15 | g.74339736C>A | CA393147258 | CYP11A1 | c.1008G>T (p.Gln336His) c.534G>T (p.Gln178His) | |
15 | g.74339736C= | CA2187638030 | CYP11A1 | c.1008G= (p.Gln336=) c.534G= (p.Gln178=) | |
15 | g.74339736C>G | CA393147259 | CYP11A1 | c.1008G>C (p.Gln336His) c.534G>C (p.Gln178His) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339736C>T | CA272787043 | CYP11A1 | c.1008G>A (p.Gln336=) c.534G>A (p.Gln178=) | dbSNP |
15 | g.74339737_74339745del | CA2575788277 | CYP11A1 | c.1000_1008del (p.Thr334_Gln336del) c.526_534del (p.Thr176_Gln178del) | |
15 | g.74339737T>A | CA393147260 | CYP11A1 | c.1007A>T (p.Gln336Leu) c.533A>T (p.Gln178Leu) | |
15 | g.74339737T>C | CA393147262 | CYP11A1 | c.1007A>G (p.Gln336Arg) c.533A>G (p.Gln178Arg) | |
15 | g.74339737T>G | CA393147261 | CYP11A1 | c.1007A>C (p.Gln336Pro) c.533A>C (p.Gln178Pro) | |
15 | g.74339738G>A | CA393147263 | CYP11A1 | c.1006C>T (p.Gln336Ter) c.532C>T (p.Gln178Ter) | gnomAD v4 |
15 | g.74339738G>C | CA393147265 | CYP11A1 | c.1006C>G (p.Gln336Glu) c.532C>G (p.Gln178Glu) | |
15 | g.74339738G>T | CA393147264 | CYP11A1 | c.1006C>A (p.Gln336Lys) c.532C>A (p.Gln178Lys) | |
15 | g.74339739C>A | CA491194440 | CYP11A1 | c.1005G>T (p.Leu335=) c.531G>T (p.Leu177=) | |
15 | g.74339739C>G | CA491194441 | CYP11A1 | c.1005G>C (p.Leu335=) c.531G>C (p.Leu177=) | |
15 | g.74339739C>T | CA491194442 | CYP11A1 | c.1005G>A (p.Leu335=) c.531G>A (p.Leu177=) | gnomAD v4 |
15 | g.74339740A>C | CA393147266 | CYP11A1 | c.1004T>G (p.Leu335Arg) c.530T>G (p.Leu177Arg) | |
15 | g.74339740A>G | CA393147267 | CYP11A1 | c.1004T>C (p.Leu335Pro) c.530T>C (p.Leu177Pro) | |
15 | g.74339740A>T | CA393147268 | CYP11A1 | c.1004T>A (p.Leu335Gln) c.530T>A (p.Leu177Gln) | gnomAD v4 |
15 | g.74339741G>A | CA491194443 | CYP11A1 | c.1003C>T (p.Leu335=) c.529C>T (p.Leu177=) | |
15 | g.74339741G>C | CA393147269 | CYP11A1 | c.1003C>G (p.Leu335Val) c.529C>G (p.Leu177Val) | |
15 | g.74339741G>T | CA393147270 | CYP11A1 | c.1003C>A (p.Leu335Met) c.529C>A (p.Leu177Met) | |
15 | g.74339742G>A | CA491194444 | CYP11A1 | c.1002C>T (p.Thr334=) c.528C>T (p.Thr176=) | gnomAD v4 |
15 | g.74339742G>C | CA491194445 | CYP11A1 | c.1002C>G (p.Thr334=) c.528C>G (p.Thr176=) | |
15 | g.74339742G>T | CA491194446 | CYP11A1 | c.1002C>A (p.Thr334=) c.528C>A (p.Thr176=) | |
15 | g.74339743G>A | CA393147271 | CYP11A1 | c.1001C>T (p.Thr334Ile) c.527C>T (p.Thr176Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74339743G>C | CA7656391 | CYP11A1 | c.1001C>G (p.Thr334Ser) c.527C>G (p.Thr176Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339743G= | CA2187638033 | CYP11A1 | c.1001C= (p.Thr334=) c.527C= (p.Thr176=) | |
15 | g.74339743G>T | CA393147272 | CYP11A1 | c.1001C>A (p.Thr334Asn) c.527C>A (p.Thr176Asn) | |
15 | g.74339744T>A | CA393147273 | CYP11A1 | c.1000A>T (p.Thr334Ser) c.526A>T (p.Thr176Ser) | |
15 | g.74339744T>C | CA393147274 | CYP11A1 | c.1000A>G (p.Thr334Ala) c.526A>G (p.Thr176Ala) | |
15 | g.74339744T>G | CA393147275 | CYP11A1 | c.1000A>C (p.Thr334Pro) c.526A>C (p.Thr176Pro) | |
15 | g.74339745C>A | CA7656393 | CYP11A1 | c.999G>T (p.Met333Ile) c.525G>T (p.Met175Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339745C= | CA2187638037 | CYP11A1 | c.999G= (p.Met333=) c.525G= (p.Met175=) | |
15 | g.74339745C>G | CA393147276 | CYP11A1 | c.999G>C (p.Met333Ile) c.525G>C (p.Met175Ile) | |
15 | g.74339745C>T | CA7656392 | CYP11A1 | c.999G>A (p.Met333Ile) c.525G>A (p.Met175Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339746A= | CA2187638042 | CYP11A1 | c.998T= (p.Met333=) c.524T= (p.Met175=) | |
15 | g.74339746A>C | CA393147277 | CYP11A1 | c.998T>G (p.Met333Arg) c.524T>G (p.Met175Arg) | |
15 | g.74339746A>G | CA272787079 | CYP11A1 | c.998T>C (p.Met333Thr) c.524T>C (p.Met175Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74339746A>T | CA393147278 | CYP11A1 | c.998T>A (p.Met333Lys) c.524T>A (p.Met175Lys) | dbSNP gnomAD v4 |
15 | g.74339747T>A | CA393147279 | CYP11A1 | c.997A>T (p.Met333Leu) c.523A>T (p.Met175Leu) | |
15 | g.74339747T>C | CA393147280 | CYP11A1 | c.997A>G (p.Met333Val) c.523A>G (p.Met175Val) | dbSNP |
15 | g.74339747T>G | CA393147281 | CYP11A1 | c.997A>C (p.Met333Leu) c.523A>C (p.Met175Leu) | |
15 | g.74339747T= | CA2187638047 | CYP11A1 | c.997A= (p.Met333=) c.523A= (p.Met175=) | |
15 | g.74339748G>A | CA491194447 | CYP11A1 | c.996C>T (p.Ser332=) c.522C>T (p.Ser174=) | |
15 | g.74339748G>C | CA491194448 | CYP11A1 | c.996C>G (p.Ser332=) c.522C>G (p.Ser174=) | |
15 | g.74339748G>T | CA491194449 | CYP11A1 | c.996C>A (p.Ser332=) c.522C>A (p.Ser174=) | |
15 | g.74339749G>A | CA393147282 | CYP11A1 | c.995C>T (p.Ser332Phe) c.521C>T (p.Ser174Phe) | COSMIC |
15 | g.74339749G>C | CA393147283 | CYP11A1 | c.995C>G (p.Ser332Cys) c.521C>G (p.Ser174Cys) | |
15 | g.74339749G>T | CA393147284 | CYP11A1 | c.995C>A (p.Ser332Tyr) c.521C>A (p.Ser174Tyr) | |
15 | g.74339750A>C | CA393147285 | CYP11A1 | c.994T>G (p.Ser332Ala) c.520T>G (p.Ser174Ala) | |
15 | g.74339750A>G | CA393147286 | CYP11A1 | c.994T>C (p.Ser332Pro) c.520T>C (p.Ser174Pro) | |
15 | g.74339750A>T | CA393147287 | CYP11A1 | c.994T>A (p.Ser332Thr) c.520T>A (p.Ser174Thr) | |
15 | g.74339751C>A | CA491194451 | CYP11A1 | c.993G>T (p.Thr331=) c.519G>T (p.Thr173=) | |
15 | g.74339751C= | CA2187638049 | CYP11A1 | c.993G= (p.Thr331=) c.519G= (p.Thr173=) | |
15 | g.74339751C>G | CA491194450 | CYP11A1 | c.993G>C (p.Thr331=) c.519G>C (p.Thr173=) | dbSNP |
15 | g.74339751C>T | CA7656394 | CYP11A1 | c.993G>A (p.Thr331=) c.519G>A (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339752G>A | CA7656395 | CYP11A1 | c.992C>T (p.Thr331Met) c.518C>T (p.Thr173Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339752G>C | CA393147288 | CYP11A1 | c.992C>G (p.Thr331Arg) c.518C>G (p.Thr173Arg) | |
15 | g.74339752G= | CA2187638051 | CYP11A1 | c.992C= (p.Thr331=) c.518C= (p.Thr173=) | |
15 | g.74339752G>T | CA393147289 | CYP11A1 | c.992C>A (p.Thr331Lys) c.518C>A (p.Thr173Lys) | gnomAD v4 |
15 | g.74339753T>A | CA393147290 | CYP11A1 | c.991A>T (p.Thr331Ser) c.517A>T (p.Thr173Ser) | |
15 | g.74339753T>C | CA393147291 | CYP11A1 | c.991A>G (p.Thr331Ala) c.517A>G (p.Thr173Ala) | gnomAD v4 |
15 | g.74339753T>G | CA393147292 | CYP11A1 | c.991A>C (p.Thr331Pro) c.517A>C (p.Thr173Pro) | |
15 | g.74339754_74339755del | CA2629468559 | CYP11A1 | c.991-1_991del c.517-1_517del | gnomAD v4 |
15 | g.74339754C>A | CA393147293 | CYP11A1 | c.991-1G>T (n.991-1G>T) c.517-1G>T (n.517-1G>T) | |
15 | g.74339754C= | CA2187638053 | CYP11A1 | c.991-1G= (n.991-1G=) c.517-1G= (n.517-1G=) | |
15 | g.74339754C>G | CA393147294 | CYP11A1 | c.991-1G>C (n.991-1G>C) c.517-1G>C (n.517-1G>C) | |
15 | g.74339754C>T | CA7656396 | CYP11A1 | c.991-1G>A (n.991-1G>A) c.517-1G>A (n.517-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |