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