Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
15 | g.74339755T>A | CA393147295 | CYP11A1 | c.991-2A>T (n.991-2A>T) c.517-2A>T (n.517-2A>T) | |
15 | g.74339755T>C | CA393147296 | CYP11A1 | c.991-2A>G (n.991-2A>G) c.517-2A>G (n.517-2A>G) | gnomAD v4 |
15 | g.74339755T>G | CA393147297 | CYP11A1 | c.991-2A>C (n.991-2A>C) c.517-2A>C (n.517-2A>C) | |
15 | g.74339756G>A | CA2575788278 | CYP11A1 | c.991-3C>T (n.991-3C>T) c.517-3C>T (n.517-3C>T) | |
15 | g.74339756G= | CA2187638057 | CYP11A1 | c.991-3C= (n.991-3C=) c.517-3C= (n.517-3C=) | |
15 | g.74339756G>T | CA7656397 | CYP11A1 | c.991-3C>A (n.991-3C>A) c.517-3C>A (n.517-3C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339757G>A | CA7656398 | CYP11A1 | c.991-4C>T (n.991-4C>T) c.517-4C>T (n.517-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339757G= | CA2187638059 | CYP11A1 | c.991-4C= (n.991-4C=) c.517-4C= (n.517-4C=) | |
15 | g.74339757G>T | CA2697549227 | CYP11A1 | c.991-4C>A (n.991-4C>A) c.517-4C>A (n.517-4C>A) | ClinVar |
15 | g.74339758T>C | CA715643802 | CYP11A1 | c.991-5A>G (n.991-5A>G) c.517-5A>G (n.517-5A>G) | ClinVar dbSNP gnomAD v4 |
15 | g.74339758T>G | CA2739269574 | CYP11A1 | c.991-5A>C (n.991-5A>C) c.517-5A>C (n.517-5A>C) | ClinVar |
15 | g.74339758T= | CA2187638062 | CYP11A1 | c.991-5A= (n.991-5A=) c.517-5A= (n.517-5A=) | |
15 | g.74339758_74339759delinsTG | CA2187638060 | CYP11A1 | c.991-6_991-5delinsCA (n.991-6_991-5delinsCA) c.517-6_517-5delinsCA (n.517-6_517-5delinsCA) | |
15 | g.74339759G>A | CA7656400 | CYP11A1 | c.991-6C>T (n.991-6C>T) c.517-6C>T (n.517-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339759G= | CA2187638064 | CYP11A1 | c.991-6C= (n.991-6C=) c.517-6C= (n.517-6C=) | |
15 | g.74339762del | CA7656399 | CYP11A1 | c.991-6del (n.991-6del) c.517-6del (n.517-6del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339761G>A | CA2629468565 | CYP11A1 | c.991-8C>T (n.991-8C>T) c.517-8C>T (n.517-8C>T) | ClinVar gnomAD v4 |
15 | g.74339762G>A | CA7656401 | CYP11A1 | c.991-9C>T (n.991-9C>T) c.517-9C>T (n.517-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339762G= | CA2187638066 | CYP11A1 | c.991-9C= (n.991-9C=) c.517-9C= (n.517-9C=) | |
15 | g.74339764G>T | CA2629468567 | CYP11A1 | c.991-11C>A (n.991-11C>A) c.517-11C>A (n.517-11C>A) | gnomAD v4 |
15 | g.74339765T>A | CA619411947 | CYP11A1 | c.991-12A>T (n.991-12A>T) c.517-12A>T (n.517-12A>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74339765T>G | CA2629468568 | CYP11A1 | c.991-12A>C (n.991-12A>C) c.517-12A>C (n.517-12A>C) | gnomAD v4 |
15 | g.74339765T= | CA2187638068 | CYP11A1 | c.991-12A= (n.991-12A=) c.517-12A= (n.517-12A=) | |
15 | g.74339766A>G | CA2629468569 | CYP11A1 | c.991-13T>C (n.991-13T>C) c.517-13T>C (n.517-13T>C) | gnomAD v4 |
15 | g.74339767G>C | CA272787122 | CYP11A1 | c.991-14C>G (n.991-14C>G) c.517-14C>G (n.517-14C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339767G= | CA2187638070 | CYP11A1 | c.991-14C= (n.991-14C=) c.517-14C= (n.517-14C=) | |
15 | g.74339768G>A | CA7656402 | CYP11A1 | c.991-15C>T (n.991-15C>T) c.517-15C>T (n.517-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339768G= | CA2187638077 | CYP11A1 | c.991-15C= (n.991-15C=) c.517-15C= (n.517-15C=) | |
15 | g.74339768G>T | CA7656403 | CYP11A1 | c.991-15C>A (n.991-15C>A) c.517-15C>A (n.517-15C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339769G>A | CA2629468571 | CYP11A1 | c.991-16C>T (n.991-16C>T) c.517-16C>T (n.517-16C>T) | gnomAD v4 |
15 | g.74339769G= | CA2187638078 | CYP11A1 | c.991-16C= (n.991-16C=) c.517-16C= (n.517-16C=) | |
15 | g.74339769G>T | CA7656404 | CYP11A1 | c.991-16C>A (n.991-16C>A) c.517-16C>A (n.517-16C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339771A= | CA2187638080 | CYP11A1 | c.991-18T= (n.991-18T=) c.517-18T= (n.517-18T=) | |
15 | g.74339771A>T | CA971484898 | CYP11A1 | c.991-18T>A (n.991-18T>A) c.517-18T>A (n.517-18T>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339772T>C | CA619411948 | CYP11A1 | c.991-19A>G (n.991-19A>G) c.517-19A>G (n.517-19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339772T= | CA2187638081 | CYP11A1 | c.991-19A= (n.991-19A=) c.517-19A= (n.517-19A=) | |
15 | g.74339773A>G | CA2629468573 | CYP11A1 | c.991-20T>C (n.991-20T>C) c.517-20T>C (n.517-20T>C) | gnomAD v4 |
15 | g.74339774C= | CA2187638085 | CYP11A1 | c.991-21G= (n.991-21G=) c.517-21G= (n.517-21G=) | |
15 | g.74339774C>T | CA715643812 | CYP11A1 | c.991-21G>A (n.991-21G>A) c.517-21G>A (n.517-21G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339775A= | CA2187638086 | CYP11A1 | c.991-22T= (n.991-22T=) c.517-22T= (n.517-22T=) | |
15 | g.74339775A>G | CA971484900 | CYP11A1 | c.991-22T>C (n.991-22T>C) c.517-22T>C (n.517-22T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339776G>T | CA2629468574 | CYP11A1 | c.991-23C>A (n.991-23C>A) c.517-23C>A (n.517-23C>A) | gnomAD v4 |
15 | g.74339778del | CA2575788279 | CYP11A1 | c.991-24del (n.991-24del) c.517-24del (n.517-24del) | |
15 | g.74339780A= | CA2187638089 | CYP11A1 | c.991-27T= (n.991-27T=) c.517-27T= (n.517-27T=) | |
15 | g.74339780A>G | CA619411949 | CYP11A1 | c.991-27T>C (n.991-27T>C) c.517-27T>C (n.517-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74339782C= | CA2187638090 | CYP11A1 | c.991-29G= (n.991-29G=) c.517-29G= (n.517-29G=) | |
15 | g.74339782C>T | CA619411950 | CYP11A1 | c.991-29G>A (n.991-29G>A) c.517-29G>A (n.517-29G>A) | dbSNP gnomAD v2 |
15 | g.74339783A>G | CA2629468575 | CYP11A1 | c.991-30T>C (n.991-30T>C) c.517-30T>C (n.517-30T>C) | gnomAD v4 |
15 | g.74339783dup | CA2575788280 | CYP11A1 | c.991-30dup (n.991-30dup) c.517-30dup (n.517-30dup) |