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