Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | 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=) | 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=) | 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 |