UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74339583T>C | CA619107413 | CYP11A1 | c.1157+4A>G (n.1157+4A>G) c.683+4A>G (n.683+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339583T= | CA2187637871 | CYP11A1 | c.1157+4A= (n.1157+4A=) c.683+4A= (n.683+4A=) | |
| 15 | g.74339585G>A | CA7656361 | CYP11A1 | c.1157+2C>T (n.1157+2C>T) c.683+2C>T (n.683+2C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339585G>C | CA393146935 | CYP11A1 | c.1157+2C>G (n.1157+2C>G) c.683+2C>G (n.683+2C>G) | |
| 15 | g.74339585G= | CA2187637875 | CYP11A1 | c.1157+2C= (n.1157+2C=) c.683+2C= (n.683+2C=) | |
| 15 | g.74339585G>T | CA393146936 | CYP11A1 | c.1157+2C>A (n.1157+2C>A) c.683+2C>A (n.683+2C>A) | |
| 15 | g.74339586C>A | CA393146939 | CYP11A1 | c.1157+1G>T (n.1157+1G>T) c.683+1G>T (n.683+1G>T) | |
| 15 | g.74339586C>G | CA393146938 | CYP11A1 | c.1157+1G>C (n.1157+1G>C) c.683+1G>C (n.683+1G>C) | |
| 15 | g.74339586C>T | CA393146937 | CYP11A1 | c.1157+1G>A (n.1157+1G>A) c.683+1G>A (n.683+1G>A) | |
| 15 | g.74339587C>A | CA393146940 | CYP11A1 | c.1157G>T (p.Arg386Ile) c.683G>T (p.Arg228Ile) c.683G>T | |
| 15 | g.74339587C>G | CA393146941 | CYP11A1 | c.1157G>C (p.Arg386Thr) c.683G>C (p.Arg228Thr) c.683G>C | |
| 15 | g.74339587C>T | CA393146942 | CYP11A1 | c.1157G>A (p.Arg386Lys) c.683G>A (p.Arg228Lys) c.683G>A | gnomAD v4 |
| 15 | g.74339588T>A | CA393146943 | CYP11A1 | c.1156A>T (p.Arg386Ter) c.682A>T (p.Arg228Ter) c.682A>T | |
| 15 | g.74339588T>C | CA393146944 | CYP11A1 | c.1156A>G (p.Arg386Gly) c.682A>G (p.Arg228Gly) c.682A>G | |
| 15 | g.74339588T>G | CA491193980 | CYP11A1 | c.1156A>C (p.Arg386=) c.682A>C (p.Arg228=) c.682A>C | |
| 15 | g.74339589T>A | CA491193984 | CYP11A1 | c.1155A>T (p.Leu385=) c.681A>T (p.Leu227=) | |
| 15 | g.74339589T>C | CA491193981 | CYP11A1 | c.1155A>G (p.Leu385=) c.681A>G (p.Leu227=) | |
| 15 | g.74339589T>G | CA491193982 | CYP11A1 | c.1155A>C (p.Leu385=) c.681A>C (p.Leu227=) | ClinVar gnomAD v4 |
| 15 | g.74339590A>C | CA393146945 | CYP11A1 | c.1154T>G (p.Leu385Arg) c.680T>G (p.Leu227Arg) | |
| 15 | g.74339590A>G | CA393146946 | CYP11A1 | c.1154T>C (p.Leu385Pro) c.680T>C (p.Leu227Pro) | |
| 15 | g.74339590A>T | CA393146947 | CYP11A1 | c.1154T>A (p.Leu385Gln) c.680T>A (p.Leu227Gln) | |
| 15 | g.74339591G>A | CA491193988 | CYP11A1 | c.1153C>T (p.Leu385=) c.679C>T (p.Leu227=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339591G>C | CA7656362 | CYP11A1 | c.1153C>G (p.Leu385Val) c.679C>G (p.Leu227Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339591G= | CA2187637877 | CYP11A1 | c.1153C= (p.Leu385=) c.679C= (p.Leu227=) | |
| 15 | g.74339591G>T | CA393146948 | CYP11A1 | c.1153C>A (p.Leu385Ile) c.679C>A (p.Leu227Ile) | |
| 15 | g.74339592T>A | CA491193991 | CYP11A1 | c.1152A>T (p.Thr384=) c.678A>T (p.Thr226=) | |
| 15 | g.74339592T>C | CA491193993 | CYP11A1 | c.1152A>G (p.Thr384=) c.678A>G (p.Thr226=) | |
| 15 | g.74339592T>G | CA491193995 | CYP11A1 | c.1152A>C (p.Thr384=) c.678A>C (p.Thr226=) | dbSNP |
| 15 | g.74339592T= | CA2187637879 | CYP11A1 | c.1152A= (p.Thr384=) c.678A= (p.Thr226=) | |
| 15 | g.74339593G>A | CA393146949 | CYP11A1 | c.1151C>T (p.Thr384Ile) c.677C>T (p.Thr226Ile) | gnomAD v4 |
| 15 | g.74339593G>C | CA393146950 | CYP11A1 | c.1151C>G (p.Thr384Arg) c.677C>G (p.Thr226Arg) | |
| 15 | g.74339593G>T | CA393146951 | CYP11A1 | c.1151C>A (p.Thr384Lys) c.677C>A (p.Thr226Lys) | |
| 15 | g.74339594T>A | CA393146954 | CYP11A1 | c.1150A>T (p.Thr384Ser) c.676A>T (p.Thr226Ser) | |
| 15 | g.74339594T>C | CA393146952 | CYP11A1 | c.1150A>G (p.Thr384Ala) c.676A>G (p.Thr226Ala) | |
| 15 | g.74339594T>G | CA393146953 | CYP11A1 | c.1150A>C (p.Thr384Pro) c.676A>C (p.Thr226Pro) | |
| 15 | g.74339595C>A | CA393146955 | CYP11A1 | c.1149G>T (p.Glu383Asp) c.675G>T (p.Glu225Asp) | |
| 15 | g.74339595C= | CA2187637881 | CYP11A1 | c.1149G= (p.Glu383=) c.675G= (p.Glu225=) | |
| 15 | g.74339595C>G | CA393146956 | CYP11A1 | c.1149G>C (p.Glu383Asp) c.675G>C (p.Glu225Asp) | |
| 15 | g.74339595C>T | CA491194231 | CYP11A1 | c.1149G>A (p.Glu383=) c.675G>A (p.Glu225=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.74339596T>A | CA393146957 | CYP11A1 | c.1148A>T (p.Glu383Val) c.674A>T (p.Glu225Val) | |
| 15 | g.74339596T>C | CA393146958 | CYP11A1 | c.1148A>G (p.Glu383Gly) c.674A>G (p.Glu225Gly) | |
| 15 | g.74339596T>G | CA393146959 | CYP11A1 | c.1148A>C (p.Glu383Ala) c.674A>C (p.Glu225Ala) | |
| 15 | g.74339597C>A | CA393146960 | CYP11A1 | c.1147G>T (p.Glu383Ter) c.673G>T (p.Glu225Ter) | |
| 15 | g.74339597C>G | CA393146961 | CYP11A1 | c.1147G>C (p.Glu383Gln) c.673G>C (p.Glu225Gln) | |
| 15 | g.74339597C>T | CA393146962 | CYP11A1 | c.1147G>A (p.Glu383Lys) c.673G>A (p.Glu225Lys) | COSMIC |
| 15 | g.74339598C>A | CA393146963 | CYP11A1 | c.1146G>T (p.Lys382Asn) c.672G>T (p.Lys224Asn) | dbSNP gnomAD v4 COSMIC |
| 15 | g.74339598C= | CA2187637884 | CYP11A1 | c.1146G= (p.Lys382=) c.672G= (p.Lys224=) | |
| 15 | g.74339598C>G | CA393146964 | CYP11A1 | c.1146G>C (p.Lys382Asn) c.672G>C (p.Lys224Asn) | |
| 15 | g.74339598C>T | CA7656363 | CYP11A1 | c.1146G>A (p.Lys382=) c.672G>A (p.Lys224=) | dbSNP ExAC gnomAD v4 |
| 15 | g.74339599T>A | CA393146967 | CYP11A1 | c.1145A>T (p.Lys382Met) c.671A>T (p.Lys224Met) | |
| 15 | g.74339599T>C | CA393146966 | CYP11A1 | c.1145A>G (p.Lys382Arg) c.671A>G (p.Lys224Arg) | |
| 15 | g.74339599T>G | CA393146965 | CYP11A1 | c.1145A>C (p.Lys382Thr) c.671A>C (p.Lys224Thr) | |
| 15 | g.74339600del | CA2731160687 | CYP11A1 | c.1145del (p.Lys382ArgfsTer4) c.671del (p.Lys224ArgfsTer4) | dbSNP |
| 15 | g.74339600T>A | CA393146968 | CYP11A1 | c.1144A>T (p.Lys382Ter) c.670A>T (p.Lys224Ter) | |
| 15 | g.74339600T>C | CA393146970 | CYP11A1 | c.1144A>G (p.Lys382Glu) c.670A>G (p.Lys224Glu) | |
| 15 | g.74339600T>G | CA393146969 | CYP11A1 | c.1144A>C (p.Lys382Gln) c.670A>C (p.Lys224Gln) | |
| 15 | g.74339602_74339604dup | CA2629468486 | CYP11A1 | c.1142_1144dup (p.Ile381_Lys382insIle) c.668_670dup (p.Ile223_Lys224insIle) | gnomAD v4 |
| 15 | g.74339601G>A | CA491194243 | CYP11A1 | c.1143C>T (p.Ile381=) c.669C>T (p.Ile223=) | |
| 15 | g.74339601G>C | CA393146971 | CYP11A1 | c.1143C>G (p.Ile381Met) c.669C>G (p.Ile223Met) | gnomAD v4 |
| 15 | g.74339601G>T | CA491194245 | CYP11A1 | c.1143C>A (p.Ile381=) c.669C>A (p.Ile223=) | gnomAD v4 |
| 15 | g.74339602A>C | CA393146972 | CYP11A1 | c.1142T>G (p.Ile381Ser) c.668T>G (p.Ile223Ser) | |
| 15 | g.74339602A>G | CA393146973 | CYP11A1 | c.1142T>C (p.Ile381Thr) c.668T>C (p.Ile223Thr) | |
| 15 | g.74339602A>T | CA393146974 | CYP11A1 | c.1142T>A (p.Ile381Asn) c.668T>A (p.Ile223Asn) | |
| 15 | g.74339603T>A | CA393146975 | CYP11A1 | c.1141A>T (p.Ile381Phe) c.667A>T (p.Ile223Phe) | |
| 15 | g.74339603T>C | CA393146976 | CYP11A1 | c.1141A>G (p.Ile381Val) c.667A>G (p.Ile223Val) | |
| 15 | g.74339603T>G | CA393146977 | CYP11A1 | c.1141A>C (p.Ile381Leu) c.667A>C (p.Ile223Leu) | |
| 15 | g.74339604G>A | CA491194251 | CYP11A1 | c.1140C>T (p.Ser380=) c.666C>T (p.Ser222=) | |
| 15 | g.74339604G>C | CA393146978 | CYP11A1 | c.1140C>G (p.Ser380Arg) c.666C>G (p.Ser222Arg) | |
| 15 | g.74339604G>T | CA393146979 | CYP11A1 | c.1140C>A (p.Ser380Arg) c.666C>A (p.Ser222Arg) | |
| 15 | g.74339605C>A | CA393146980 | CYP11A1 | c.1139G>T (p.Ser380Ile) c.665G>T (p.Ser222Ile) | |
| 15 | g.74339605C>G | CA393146981 | CYP11A1 | c.1139G>C (p.Ser380Thr) c.665G>C (p.Ser222Thr) | |
| 15 | g.74339605C>T | CA393146982 | CYP11A1 | c.1139G>A (p.Ser380Asn) c.665G>A (p.Ser222Asn) | |
| 15 | g.74339606T>A | CA393146985 | CYP11A1 | c.1138A>T (p.Ser380Cys) c.664A>T (p.Ser222Cys) | |
| 15 | g.74339606T>C | CA393146983 | CYP11A1 | c.1138A>G (p.Ser380Gly) c.664A>G (p.Ser222Gly) | |
| 15 | g.74339606T>G | CA393146984 | CYP11A1 | c.1138A>C (p.Ser380Arg) c.664A>C (p.Ser222Arg) | |
| 15 | g.74339607G>A | CA491194258 | CYP11A1 | c.1137C>T (p.Ala379=) c.663C>T (p.Ala221=) | |
| 15 | g.74339607G>C | CA491194260 | CYP11A1 | c.1137C>G (p.Ala379=) c.663C>G (p.Ala221=) | |
| 15 | g.74339607G>T | CA491194261 | CYP11A1 | c.1137C>A (p.Ala379=) c.663C>A (p.Ala221=) | |
| 15 | g.74339608G>A | CA393146986 | CYP11A1 | c.1136C>T (p.Ala379Val) c.662C>T (p.Ala221Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74339608G>C | CA393146987 | CYP11A1 | c.1136C>G (p.Ala379Gly) c.662C>G (p.Ala221Gly) | |
| 15 | g.74339608G= | CA2187637886 | CYP11A1 | c.1136C= (p.Ala379=) c.662C= (p.Ala221=) | |
| 15 | g.74339608G>T | CA393146988 | CYP11A1 | c.1136C>A (p.Ala379Asp) c.662C>A (p.Ala221Asp) | |
| 15 | g.74339609C>A | CA393146989 | CYP11A1 | c.1135G>T (p.Ala379Ser) c.661G>T (p.Ala221Ser) | |
| 15 | g.74339609C= | CA2187637888 | CYP11A1 | c.1135G= (p.Ala379=) c.661G= (p.Ala221=) | |
| 15 | g.74339609C>G | CA393146990 | CYP11A1 | c.1135G>C (p.Ala379Pro) c.661G>C (p.Ala221Pro) | |
| 15 | g.74339609C>T | CA7656364 | CYP11A1 | c.1135G>A (p.Ala379Thr) c.661G>A (p.Ala221Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.74339610T>A | CA393146991 | CYP11A1 | c.1134A>T (p.Lys378Asn) c.660A>T (p.Lys220Asn) | |
| 15 | g.74339610T>C | CA491194267 | CYP11A1 | c.1134A>G (p.Lys378=) c.660A>G (p.Lys220=) | |
| 15 | g.74339610T>G | CA393146992 | CYP11A1 | c.1134A>C (p.Lys378Asn) c.660A>C (p.Lys220Asn) | |
| 15 | g.74339611T>A | CA393146993 | CYP11A1 | c.1133A>T (p.Lys378Ile) c.659A>T (p.Lys220Ile) | |
| 15 | g.74339611T>C | CA272786875 | CYP11A1 | c.1133A>G (p.Lys378Arg) c.659A>G (p.Lys220Arg) | dbSNP gnomAD v4 |
| 15 | g.74339611T>G | CA393146994 | CYP11A1 | c.1133A>C (p.Lys378Thr) c.659A>C (p.Lys220Thr) | |
| 15 | g.74339611T= | CA2187637890 | CYP11A1 | c.1133A= (p.Lys378=) c.659A= (p.Lys220=) | |
| 15 | g.74339612T>A | CA393146997 | CYP11A1 | c.1132A>T (p.Lys378Ter) c.658A>T (p.Lys220Ter) | |
| 15 | g.74339612T>C | CA393146996 | CYP11A1 | c.1132A>G (p.Lys378Glu) c.658A>G (p.Lys220Glu) | |
| 15 | g.74339612T>G | CA393146995 | CYP11A1 | c.1132A>C (p.Lys378Gln) c.658A>C (p.Lys220Gln) | |
| 15 | g.74339613G>A | CA491194274 | CYP11A1 | c.1131C>T (p.Leu377=) c.657C>T (p.Leu219=) | |
| 15 | g.74339613G>C | CA491194276 | CYP11A1 | c.1131C>G (p.Leu377=) c.657C>G (p.Leu219=) | |
| 15 | g.74339613G>T | CA491194277 | CYP11A1 | c.1131C>A (p.Leu377=) c.657C>A (p.Leu219=) | |
| 15 | g.74339614A>C | CA393146998 | CYP11A1 | c.1130T>G (p.Leu377Arg) c.656T>G (p.Leu219Arg) | |
| 15 | g.74339614A>G | CA393146999 | CYP11A1 | c.1130T>C (p.Leu377Pro) c.656T>C (p.Leu219Pro) | |
| 15 | g.74339614A>T | CA393147000 | CYP11A1 | c.1130T>A (p.Leu377His) c.656T>A (p.Leu219His) | |
| 15 | g.74339615G>A | CA393147001 | CYP11A1 | c.1129C>T (p.Leu377Phe) c.655C>T (p.Leu219Phe) | dbSNP COSMIC |
| 15 | g.74339615G>C | CA393147002 | CYP11A1 | c.1129C>G (p.Leu377Val) c.655C>G (p.Leu219Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74339615G= | CA2187637892 | CYP11A1 | c.1129C= (p.Leu377=) c.655C= (p.Leu219=) | |
| 15 | g.74339615G>T | CA393147003 | CYP11A1 | c.1129C>A (p.Leu377Ile) c.655C>A (p.Leu219Ile) | |
| 15 | g.74339616G>A | CA491194285 | CYP11A1 | c.1128C>T (p.Leu376=) c.654C>T (p.Leu218=) | |
| 15 | g.74339616G>C | CA491194283 | CYP11A1 | c.1128C>G (p.Leu376=) c.654C>G (p.Leu218=) | |
| 15 | g.74339616G>T | CA491194286 | CYP11A1 | c.1128C>A (p.Leu376=) c.654C>A (p.Leu218=) | |
| 15 | g.74339617A>C | CA393147004 | CYP11A1 | c.1127T>G (p.Leu376Arg) c.653T>G (p.Leu218Arg) | |
| 15 | g.74339617A>G | CA393147005 | CYP11A1 | c.1127T>C (p.Leu376Pro) c.653T>C (p.Leu218Pro) | |
| 15 | g.74339617A>T | CA393147006 | CYP11A1 | c.1127T>A (p.Leu376His) c.653T>A (p.Leu218His) | |
| 15 | g.74339618G>A | CA393147007 | CYP11A1 | c.1126C>T (p.Leu376Phe) c.652C>T (p.Leu218Phe) | |
| 15 | g.74339618G>C | CA393147008 | CYP11A1 | c.1126C>G (p.Leu376Val) c.652C>G (p.Leu218Val) | |
| 15 | g.74339618G>T | CA393147009 | CYP11A1 | c.1126C>A (p.Leu376Ile) c.652C>A (p.Leu218Ile) | |
| 15 | g.74339622del | CA2739269573 | CYP11A1 | c.1126del (p.Leu376SerfsTer10) c.652del (p.Leu218SerfsTer10) | ClinVar |
| 15 | g.74339619G>A | CA491194293 | CYP11A1 | c.1125C>T (p.Pro375=) c.651C>T (p.Pro217=) | |
| 15 | g.74339619G>C | CA491194295 | CYP11A1 | c.1125C>G (p.Pro375=) c.651C>G (p.Pro217=) | |
| 15 | g.74339619G>T | CA491194296 | CYP11A1 | c.1125C>A (p.Pro375=) c.651C>A (p.Pro217=) | |
| 15 | g.74339620G>A | CA7656365 | CYP11A1 | c.1124C>T (p.Pro375Leu) c.650C>T (p.Pro217Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339620G>C | CA393147011 | CYP11A1 | c.1124C>G (p.Pro375Arg) c.650C>G (p.Pro217Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74339620G= | CA2187637894 | CYP11A1 | c.1124C= (p.Pro375=) c.650C= (p.Pro217=) | |
| 15 | g.74339620G>T | CA393147010 | CYP11A1 | c.1124C>A (p.Pro375His) c.650C>A (p.Pro217His) | |
| 15 | g.74339621G>A | CA393147012 | CYP11A1 | c.1123C>T (p.Pro375Ser) c.649C>T (p.Pro217Ser) | |
| 15 | g.74339621G>C | CA393147013 | CYP11A1 | c.1123C>G (p.Pro375Ala) c.649C>G (p.Pro217Ala) | |
| 15 | g.74339621G>T | CA393147014 | CYP11A1 | c.1123C>A (p.Pro375Thr) c.649C>A (p.Pro217Thr) | gnomAD v4 |
| 15 | g.74339622G>A | CA272786888 | CYP11A1 | c.1122C>T (p.Val374=) c.648C>T (p.Val216=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74339622G>C | CA491194303 | CYP11A1 | c.1122C>G (p.Val374=) c.648C>G (p.Val216=) | |
| 15 | g.74339622G= | CA2187637895 | CYP11A1 | c.1122C= (p.Val374=) c.648C= (p.Val216=) | |
| 15 | g.74339622G>T | CA491194305 | CYP11A1 | c.1122C>A (p.Val374=) c.648C>A (p.Val216=) | ClinVar |
| 15 | g.74339623A>C | CA393147015 | CYP11A1 | c.1121T>G (p.Val374Gly) c.647T>G (p.Val216Gly) | |
| 15 | g.74339623A>G | CA393147016 | CYP11A1 | c.1121T>C (p.Val374Ala) c.647T>C (p.Val216Ala) | gnomAD v4 |
| 15 | g.74339623A>T | CA393147017 | CYP11A1 | c.1121T>A (p.Val374Asp) c.647T>A (p.Val216Asp) | |
| 15 | g.74339624C>A | CA393147018 | CYP11A1 | c.1120G>T (p.Val374Phe) c.646G>T (p.Val216Phe) | dbSNP |
| 15 | g.74339624C= | CA2187637897 | CYP11A1 | c.1120G= (p.Val374=) c.646G= (p.Val216=) | |
| 15 | g.74339624C>G | CA393147019 | CYP11A1 | c.1120G>C (p.Val374Leu) c.646G>C (p.Val216Leu) | gnomAD v4 |
| 15 | g.74339624C>T | CA393147020 | CYP11A1 | c.1120G>A (p.Val374Ile) c.646G>A (p.Val216Ile) | |
| 15 | g.74339625C>A | CA7656366 | CYP11A1 | c.1119G>T (p.Leu373=) c.645G>T (p.Leu215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339625C= | CA2187637899 | CYP11A1 | c.1119G= (p.Leu373=) c.645G= (p.Leu215=) | |
| 15 | g.74339625C>G | CA491194310 | CYP11A1 | c.1119G>C (p.Leu373=) c.645G>C (p.Leu215=) | |
| 15 | g.74339625C>T | CA491194312 | CYP11A1 | c.1119G>A (p.Leu373=) c.645G>A (p.Leu215=) | |
| 15 | g.74339626A>C | CA393147021 | CYP11A1 | c.1118T>G (p.Leu373Arg) c.644T>G (p.Leu215Arg) | |
| 15 | g.74339626A>G | CA393147022 | CYP11A1 | c.1118T>C (p.Leu373Pro) c.644T>C (p.Leu215Pro) | |
| 15 | g.74339626A>T | CA393147023 | CYP11A1 | c.1118T>A (p.Leu373Gln) c.644T>A (p.Leu215Gln) | |
| 15 | g.74339627G>A | CA491194314 | CYP11A1 | c.1117C>T (p.Leu373=) c.643C>T (p.Leu215=) | |
| 15 | g.74339627G>C | CA393147025 | CYP11A1 | c.1117C>G (p.Leu373Val) c.643C>G (p.Leu215Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74339627G= | CA2187637900 | CYP11A1 | c.1117C= (p.Leu373=) c.643C= (p.Leu215=) | |
| 15 | g.74339627G>T | CA393147024 | CYP11A1 | c.1117C>A (p.Leu373Met) c.643C>A (p.Leu215Met) | |
| 15 | g.74339628C>A | CA393147026 | CYP11A1 | c.1116G>T (p.Gln372His) c.642G>T (p.Gln214His) | |
| 15 | g.74339628C>G | CA393147027 | CYP11A1 | c.1116G>C (p.Gln372His) c.642G>C (p.Gln214His) | |
| 15 | g.74339628C>T | CA491194321 | CYP11A1 | c.1116G>A (p.Gln372=) c.642G>A (p.Gln214=) | |
| 15 | g.74339629T>A | CA393147028 | CYP11A1 | c.1115A>T (p.Gln372Leu) c.641A>T (p.Gln214Leu) | |
| 15 | g.74339629T>C | CA7656367 | CYP11A1 | c.1115A>G (p.Gln372Arg) c.641A>G (p.Gln214Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339629T>G | CA393147029 | CYP11A1 | c.1115A>C (p.Gln372Pro) c.641A>C (p.Gln214Pro) | |
| 15 | g.74339629T= | CA2187637902 | CYP11A1 | c.1115A= (p.Gln372=) c.641A= (p.Gln214=) | |
| 15 | g.74339630G>A | CA393147030 | CYP11A1 | c.1114C>T (p.Gln372Ter) c.640C>T (p.Gln214Ter) | |
| 15 | g.74339630G>C | CA393147031 | CYP11A1 | c.1114C>G (p.Gln372Glu) c.640C>G (p.Gln214Glu) | |
| 15 | g.74339630G>T | CA393147032 | CYP11A1 | c.1114C>A (p.Gln372Lys) c.640C>A (p.Gln214Lys) | |
| 15 | g.74339631T>A | CA491194326 | CYP11A1 | c.1113A>T (p.Leu371=) c.639A>T (p.Leu213=) | |
| 15 | g.74339631T>C | CA491194328 | CYP11A1 | c.1113A>G (p.Leu371=) c.639A>G (p.Leu213=) | gnomAD v4 |
| 15 | g.74339631T>G | CA491194329 | CYP11A1 | c.1113A>C (p.Leu371=) c.639A>C (p.Leu213=) | |
| 15 | g.74339632A>C | CA393147033 | CYP11A1 | c.1112T>G (p.Leu371Arg) c.638T>G (p.Leu213Arg) | |
| 15 | g.74339632A>G | CA393147034 | CYP11A1 | c.1112T>C (p.Leu371Pro) c.638T>C (p.Leu213Pro) | |
| 15 | g.74339632A>T | CA393147035 | CYP11A1 | c.1112T>A (p.Leu371Gln) c.638T>A (p.Leu213Gln) | |
| 15 | g.74339633_74339635del | CA2629468492 | CYP11A1 | c.1110_1112del (p.Met370_Leu371delinsIle) c.636_638del (p.Met212_Leu213delinsIle) | gnomAD v4 |
| 15 | g.74339633G>A | CA491194334 | CYP11A1 | c.1111C>T (p.Leu371=) c.637C>T (p.Leu213=) | |
| 15 | g.74339633G>C | CA393147036 | CYP11A1 | c.1111C>G (p.Leu371Val) c.637C>G (p.Leu213Val) | |
| 15 | g.74339633G>T | CA393147037 | CYP11A1 | c.1111C>A (p.Leu371Ile) c.637C>A (p.Leu213Ile) | gnomAD v4 |
| 15 | g.74339634C>A | CA393147038 | CYP11A1 | c.1110G>T (p.Met370Ile) c.636G>T (p.Met212Ile) | |
| 15 | g.74339634C>G | CA393147039 | CYP11A1 | c.1110G>C (p.Met370Ile) c.636G>C (p.Met212Ile) | |
| 15 | g.74339634C>T | CA393147040 | CYP11A1 | c.1110G>A (p.Met370Ile) c.636G>A (p.Met212Ile) | COSMIC |
| 15 | g.74339635A>C | CA393147043 | CYP11A1 | c.1109T>G (p.Met370Arg) c.635T>G (p.Met212Arg) | |
| 15 | g.74339635A>G | CA393147041 | CYP11A1 | c.1109T>C (p.Met370Thr) c.635T>C (p.Met212Thr) | |
| 15 | g.74339635A>T | CA393147042 | CYP11A1 | c.1109T>A (p.Met370Lys) c.635T>A (p.Met212Lys) | |
| 15 | g.74339636T>A | CA393147044 | CYP11A1 | c.1108A>T (p.Met370Leu) c.634A>T (p.Met212Leu) | gnomAD v4 |
| 15 | g.74339636T>C | CA393147045 | CYP11A1 | c.1108A>G (p.Met370Val) c.634A>G (p.Met212Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339636T>G | CA393147046 | CYP11A1 | c.1108A>C (p.Met370Leu) c.634A>C (p.Met212Leu) | |
| 15 | g.74339636T= | CA2187637904 | CYP11A1 | c.1108A= (p.Met370=) c.634A= (p.Met212=) | |
| 15 | g.74339637C>A | CA491194343 | CYP11A1 | c.1107G>T (p.Thr369=) c.633G>T (p.Thr211=) | |
| 15 | g.74339637C= | CA2187637906 | CYP11A1 | c.1107G= (p.Thr369=) c.633G= (p.Thr211=) | |
| 15 | g.74339637C>G | CA491194342 | CYP11A1 | c.1107G>C (p.Thr369=) c.633G>C (p.Thr211=) | |
| 15 | g.74339637C>T | CA7656368 | CYP11A1 | c.1107G>A (p.Thr369=) c.633G>A (p.Thr211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339638G>A | CA7656369 | CYP11A1 | c.1106C>T (p.Thr369Met) c.632C>T (p.Thr211Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339638G>C | CA393147047 | CYP11A1 | c.1106C>G (p.Thr369Arg) c.632C>G (p.Thr211Arg) | |
| 15 | g.74339638G= | CA2187637908 | CYP11A1 | c.1106C= (p.Thr369=) c.632C= (p.Thr211=) | |
| 15 | g.74339638G>T | CA393147048 | CYP11A1 | c.1106C>A (p.Thr369Lys) c.632C>A (p.Thr211Lys) | |
| 15 | g.74339639T>A | CA393147049 | CYP11A1 | c.1105A>T (p.Thr369Ser) c.631A>T (p.Thr211Ser) | |
| 15 | g.74339639T>C | CA393147050 | CYP11A1 | c.1105A>G (p.Thr369Ala) c.631A>G (p.Thr211Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74339639T>G | CA393147051 | CYP11A1 | c.1105A>C (p.Thr369Pro) c.631A>C (p.Thr211Pro) | |
| 15 | g.74339639T= | CA2187637911 | CYP11A1 | c.1105A= (p.Thr369=) c.631A= (p.Thr211=) | |
| 15 | g.74339639dup | CA645583182 | CYP11A1 | c.1105dup (p.Thr369AsnfsTer?) c.631dup (p.Thr211AsnfsTer?) | COSMIC |
| 15 | g.74339639_74339640insA | CA491194348 | CYP11A1 | c.1104_1105insT (p.Thr369TyrfsTer?) c.630_631insT (p.Thr211TyrfsTer?) | |
| 15 | g.74339640G>A | CA272786936 | CYP11A1 | c.1104C>T (p.Ala368=) c.630C>T (p.Ala210=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74339640G>C | CA491194352 | CYP11A1 | c.1104C>G (p.Ala368=) c.630C>G (p.Ala210=) | |
| 15 | g.74339640G= | CA2187637914 | CYP11A1 | c.1104C= (p.Ala368=) c.630C= (p.Ala210=) | |
| 15 | g.74339640G>T | CA491194350 | CYP11A1 | c.1104C>A (p.Ala368=) c.630C>A (p.Ala210=) | |
| 15 | g.74339641G>A | CA393147053 | CYP11A1 | c.1103C>T (p.Ala368Val) c.629C>T (p.Ala210Val) | |
| 15 | g.74339641G>C | CA393147054 | CYP11A1 | c.1103C>G (p.Ala368Gly) c.629C>G (p.Ala210Gly) | |
| 15 | g.74339641G>T | CA393147052 | CYP11A1 | c.1103C>A (p.Ala368Asp) c.629C>A (p.Ala210Asp) | |
| 15 | g.74339642C>A | CA393147055 | CYP11A1 | c.1102G>T (p.Ala368Ser) c.628G>T (p.Ala210Ser) | |
| 15 | g.74339642C= | CA2187637917 | CYP11A1 | c.1102G= (p.Ala368=) c.628G= (p.Ala210=) | |
| 15 | g.74339642C>G | CA393147056 | CYP11A1 | c.1102G>C (p.Ala368Pro) c.628G>C (p.Ala210Pro) | |
| 15 | g.74339642C>T | CA393147057 | CYP11A1 | c.1102G>A (p.Ala368Thr) c.628G>A (p.Ala210Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.74339643C>A | CA393147058 | CYP11A1 | c.1101G>T (p.Met367Ile) c.627G>T (p.Met209Ile) | |
| 15 | g.74339643C>G | CA393147059 | CYP11A1 | c.1101G>C (p.Met367Ile) c.627G>C (p.Met209Ile) | |
| 15 | g.74339643C>T | CA393147060 | CYP11A1 | c.1101G>A (p.Met367Ile) c.627G>A (p.Met209Ile) | |
| 15 | g.74339644A= | CA2187637920 | CYP11A1 | c.1100T= (p.Met367=) c.626T= (p.Met209=) | |
| 15 | g.74339644A>C | CA393147061 | CYP11A1 | c.1100T>G (p.Met367Arg) c.626T>G (p.Met209Arg) | |
| 15 | g.74339644A>G | CA7656370 | CYP11A1 | c.1100T>C (p.Met367Thr) c.626T>C (p.Met209Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339644A>T | CA393147062 | CYP11A1 | c.1100T>A (p.Met367Lys) c.626T>A (p.Met209Lys) | |
| 15 | g.74339645T>A | CA7656371 | CYP11A1 | c.1099A>T (p.Met367Leu) c.625A>T (p.Met209Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339645T>C | CA393147063 | CYP11A1 | c.1099A>G (p.Met367Val) c.625A>G (p.Met209Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74339645T>G | CA393147064 | CYP11A1 | c.1099A>C (p.Met367Leu) c.625A>C (p.Met209Leu) | |
| 15 | g.74339645T= | CA2187637923 | CYP11A1 | c.1099A= (p.Met367=) c.625A= (p.Met209=) | |
| 15 | g.74339646G>A | CA7656372 | CYP11A1 | c.1098C>T (p.Asp366=) c.624C>T (p.Asp208=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339646G>C | CA393147066 | CYP11A1 | c.1098C>G (p.Asp366Glu) c.624C>G (p.Asp208Glu) | gnomAD v4 |
| 15 | g.74339646G= | CA2187637926 | CYP11A1 | c.1098C= (p.Asp366=) c.624C= (p.Asp208=) | |
| 15 | g.74339646G>T | CA393147065 | CYP11A1 | c.1098C>A (p.Asp366Glu) c.624C>A (p.Asp208Glu) | |
| 15 | g.74339647T>A | CA393147067 | CYP11A1 | c.1097A>T (p.Asp366Val) c.623A>T (p.Asp208Val) | |
| 15 | g.74339647T>C | CA393147068 | CYP11A1 | c.1097A>G (p.Asp366Gly) c.623A>G (p.Asp208Gly) | |
| 15 | g.74339647T>G | CA393147069 | CYP11A1 | c.1097A>C (p.Asp366Ala) c.623A>C (p.Asp208Ala) | |
| 15 | g.74339648C>A | CA7656374 | CYP11A1 | c.1096G>T (p.Asp366Tyr) c.622G>T (p.Asp208Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339648C= | CA2187637928 | CYP11A1 | c.1096G= (p.Asp366=) c.622G= (p.Asp208=) | |
| 15 | g.74339648C>G | CA393147070 | CYP11A1 | c.1096G>C (p.Asp366His) c.622G>C (p.Asp208His) | |
| 15 | g.74339648C>T | CA7656373 | CYP11A1 | c.1096G>A (p.Asp366Asn) c.622G>A (p.Asp208Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74339649T>A | CA491194373 | CYP11A1 | c.1095A>T (p.Gly365=) c.621A>T (p.Gly207=) | |
| 15 | g.74339649T>C | CA491194375 | CYP11A1 | c.1095A>G (p.Gly365=) c.621A>G (p.Gly207=) | dbSNP |
| 15 | g.74339649T>G | CA491194377 | CYP11A1 | c.1095A>C (p.Gly365=) c.621A>C (p.Gly207=) | |
| 15 | g.74339649T= | CA2187637930 | CYP11A1 | c.1095A= (p.Gly365=) c.621A= (p.Gly207=) | |
| 15 | g.74339650C>A | CA393147073 | CYP11A1 | c.1094G>T (p.Gly365Val) c.620G>T (p.Gly207Val) | |
| 15 | g.74339650C= | CA2187637932 | CYP11A1 | c.1094G= (p.Gly365=) c.620G= (p.Gly207=) | |
| 15 | g.74339650C>G | CA393147071 | CYP11A1 | c.1094G>C (p.Gly365Ala) c.620G>C (p.Gly207Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74339650C>T | CA393147072 | CYP11A1 | c.1094G>A (p.Gly365Glu) c.620G>A (p.Gly207Glu) | |
| 15 | g.74339651C>A | CA393147074 | CYP11A1 | c.1093G>T (p.Gly365Ter) c.619G>T (p.Gly207Ter) | |
| 15 | g.74339651C>G | CA393147075 | CYP11A1 | c.1093G>C (p.Gly365Arg) c.619G>C (p.Gly207Arg) | |
| 15 | g.74339651C>T | CA393147076 | CYP11A1 | c.1093G>A (p.Gly365Arg) c.619G>A (p.Gly207Arg) | gnomAD v4 |
| 15 | g.74339652C>A | CA393147077 | CYP11A1 | c.1092G>T (p.Gln364His) c.618G>T (p.Gln206His) | |
| 15 | g.74339652C>G | CA393147078 | CYP11A1 | c.1092G>C (p.Gln364His) c.618G>C (p.Gln206His) | |
| 15 | g.74339652C>T | CA491194385 | CYP11A1 | c.1092G>A (p.Gln364=) c.618G>A (p.Gln206=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74339653T>A | CA393147080 | CYP11A1 | c.1091A>T (p.Gln364Leu) c.617A>T (p.Gln206Leu) | |
| 15 | g.74339653T>C | CA7656375 | CYP11A1 | c.1091A>G (p.Gln364Arg) c.617A>G (p.Gln206Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74339653T>G | CA393147079 | CYP11A1 | c.1091A>C (p.Gln364Pro) c.617A>C (p.Gln206Pro) | |
| 15 | g.74339653T= | CA2187637934 | CYP11A1 | c.1091A= (p.Gln364=) c.617A= (p.Gln206=) | |
| 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 |