Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.74339522_74339533del | CA2629468444 | CYP11A1 | c.1157+59_1157+70del (n.1157+59_1157+70del) c.683+59_683+70del (n.683+59_683+70del) | gnomAD v4 |
15 | g.74339527_74339537del | CA2629468454 | CYP11A1 | c.1157+53_1157+63del (n.1157+53_1157+63del) c.683+53_683+63del (n.683+53_683+63del) | gnomAD v4 |
15 | g.74339526C= | CA2187637797 | CYP11A1 | c.1157+61G= (n.1157+61G=) c.683+61G= (n.683+61G=) | |
15 | g.74339526C>T | CA272786802 | CYP11A1 | c.1157+61G>A (n.1157+61G>A) c.683+61G>A (n.683+61G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339528C>A | CA2629468459 | CYP11A1 | c.1157+59G>T (n.1157+59G>T) c.683+59G>T (n.683+59G>T) | gnomAD v4 |
15 | g.74339529T>C | CA272786803 | CYP11A1 | c.1157+58A>G (n.1157+58A>G) c.683+58A>G (n.683+58A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339529T>G | CA2629468461 | CYP11A1 | c.1157+58A>C (n.1157+58A>C) c.683+58A>C (n.683+58A>C) | gnomAD v4 |
15 | g.74339529T= | CA2187637798 | CYP11A1 | c.1157+58A= (n.1157+58A=) c.683+58A= (n.683+58A=) | |
15 | g.74339530T>A | CA2804754732 | CYP11A1 | c.1157+57A>T (n.1157+57A>T) c.683+57A>T (n.683+57A>T) | |
15 | g.74339530T>C | CA715643368 | CYP11A1 | c.1157+57A>G (n.1157+57A>G) c.683+57A>G (n.683+57A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339530T= | CA2187637800 | CYP11A1 | c.1157+57A= (n.1157+57A=) c.683+57A= (n.683+57A=) | |
15 | g.74339531C>A | CA2629468463 | CYP11A1 | c.1157+56G>T (n.1157+56G>T) c.683+56G>T (n.683+56G>T) | gnomAD v4 |
15 | g.74339531C= | CA2187637803 | CYP11A1 | c.1157+56G= (n.1157+56G=) c.683+56G= (n.683+56G=) | |
15 | g.74339531C>T | CA715643371 | CYP11A1 | c.1157+56G>A (n.1157+56G>A) c.683+56G>A (n.683+56G>A) | dbSNP gnomAD v4 |
15 | g.74339532C>A | CA2629468465 | CYP11A1 | c.1157+55G>T (n.1157+55G>T) c.683+55G>T (n.683+55G>T) | gnomAD v4 |
15 | g.74339532C>G | CA2629468466 | CYP11A1 | c.1157+55G>C (n.1157+55G>C) c.683+55G>C (n.683+55G>C) | gnomAD v4 |
15 | g.74339533C= | CA2187637804 | CYP11A1 | c.1157+54G= (n.1157+54G=) c.683+54G= (n.683+54G=) | |
15 | g.74339533C>G | CA2563740240 | CYP11A1 | c.1157+54G>C (n.1157+54G>C) c.683+54G>C (n.683+54G>C) | |
15 | g.74339533C>T | CA715643374 | CYP11A1 | c.1157+54G>A (n.1157+54G>A) c.683+54G>A (n.683+54G>A) | dbSNP |
15 | g.74339536G>T | CA2629468467 | CYP11A1 | c.1157+51C>A (n.1157+51C>A) c.683+51C>A (n.683+51C>A) | gnomAD v4 |
15 | g.74339537C>A | CA2629468469 | CYP11A1 | c.1157+50G>T (n.1157+50G>T) c.683+50G>T (n.683+50G>T) | gnomAD v4 |
15 | g.74339538C>A | CA2629468470 | CYP11A1 | c.1157+49G>T (n.1157+49G>T) c.683+49G>T (n.683+49G>T) | gnomAD v4 |
15 | g.74339539C= | CA2187637806 | CYP11A1 | c.1157+48G= (n.1157+48G=) c.683+48G= (n.683+48G=) | |
15 | g.74339539C>G | CA7656353 | CYP11A1 | c.1157+48G>C (n.1157+48G>C) c.683+48G>C (n.683+48G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339540_74339542delinsTGC | CA2187637808 | CYP11A1 | c.1157+45_1157+47delinsGCA (n.1157+45_1157+47delinsGCA) c.683+45_683+47delinsGCA (n.683+45_683+47delinsGCA) | |
15 | g.74339541G>A | CA619107396 | CYP11A1 | c.1157+46C>T (n.1157+46C>T) c.683+46C>T (n.683+46C>T) | dbSNP gnomAD v2 |
15 | g.74339541G= | CA2187637812 | CYP11A1 | c.1157+46C= (n.1157+46C=) c.683+46C= (n.683+46C=) | |
15 | g.74339541G>T | CA2629468472 | CYP11A1 | c.1157+46C>A (n.1157+46C>A) c.683+46C>A (n.683+46C>A) | gnomAD v4 |
15 | g.74339541_74339542del | CA715643381 | CYP11A1 | c.1157+45_1157+46del (n.1157+45_1157+46del) c.683+45_683+46del (n.683+45_683+46del) | dbSNP |
15 | g.74339542C>A | CA7656354 | CYP11A1 | c.1157+45G>T (n.1157+45G>T) c.683+45G>T (n.683+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339542C= | CA2187637813 | CYP11A1 | c.1157+45G= (n.1157+45G=) c.683+45G= (n.683+45G=) | |
15 | g.74339543C>A | CA2629468473 | CYP11A1 | c.1157+44G>T (n.1157+44G>T) c.683+44G>T (n.683+44G>T) | gnomAD v4 |
15 | g.74339545A>G | CA2575788274 | CYP11A1 | c.1157+42T>C (n.1157+42T>C) c.683+42T>C (n.683+42T>C) | |
15 | g.74339545_74339546delinsAG | CA2187637816 | CYP11A1 | c.1157+41_1157+42delinsCT (n.1157+41_1157+42delinsCT) c.683+41_683+42delinsCT (n.683+41_683+42delinsCT) | |
15 | g.74339546G>A | CA2629468474 | CYP11A1 | c.1157+41C>T (n.1157+41C>T) c.683+41C>T (n.683+41C>T) | gnomAD v4 |
15 | g.74339548del | CA971484869 | CYP11A1 | c.1157+41del (n.1157+41del) c.683+41del (n.683+41del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339547G>T | CA2538670141 | CYP11A1 | c.1157+40C>A (n.1157+40C>A) c.683+40C>A (n.683+40C>A) | |
15 | g.74339549A= | CA2187637818 | CYP11A1 | c.1157+38T= (n.1157+38T=) c.683+38T= (n.683+38T=) | |
15 | g.74339549A>C | CA2187637819 | CYP11A1 | c.1157+38T>G (n.1157+38T>G) c.683+38T>G (n.683+38T>G) | dbSNP |
15 | g.74339549A>G | CA2629468475 | CYP11A1 | c.1157+38T>C (n.1157+38T>C) c.683+38T>C (n.683+38T>C) | gnomAD v4 |
15 | g.74339550T>C | CA619107399 | CYP11A1 | c.1157+37A>G (n.1157+37A>G) c.683+37A>G (n.683+37A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339550T>G | CA2629468476 | CYP11A1 | c.1157+37A>C (n.1157+37A>C) c.683+37A>C (n.683+37A>C) | gnomAD v4 |
15 | g.74339550T= | CA2187637821 | CYP11A1 | c.1157+37A= (n.1157+37A=) c.683+37A= (n.683+37A=) | |
15 | g.74339551T>G | CA619107400 | CYP11A1 | c.1157+36A>C (n.1157+36A>C) c.683+36A>C (n.683+36A>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74339551T= | CA2187637822 | CYP11A1 | c.1157+36A= (n.1157+36A=) c.683+36A= (n.683+36A=) | |
15 | g.74339552G>A | CA2629468477 | CYP11A1 | c.1157+35C>T (n.1157+35C>T) c.683+35C>T (n.683+35C>T) | gnomAD v4 |
15 | g.74339555G>A | CA272786809 | CYP11A1 | c.1157+32C>T (n.1157+32C>T) c.683+32C>T (n.683+32C>T) | dbSNP gnomAD v4 |
15 | g.74339555G= | CA2187637824 | CYP11A1 | c.1157+32C= (n.1157+32C=) c.683+32C= (n.683+32C=) | |
15 | g.74339556T>A | CA2629468478 | CYP11A1 | c.1157+31A>T (n.1157+31A>T) c.683+31A>T (n.683+31A>T) | gnomAD v4 |
15 | g.74339556T>G | CA2187637829 | CYP11A1 | c.1157+31A>C (n.1157+31A>C) c.683+31A>C (n.683+31A>C) | dbSNP |
15 | g.74339556T= | CA2187637828 | CYP11A1 | c.1157+31A= (n.1157+31A=) c.683+31A= (n.683+31A=) | |
15 | g.74339557_74339558delinsTG | CA2187637830 | CYP11A1 | c.1157+29_1157+30delinsCA (n.1157+29_1157+30delinsCA) c.683+29_683+30delinsCA (n.683+29_683+30delinsCA) | |
15 | g.74339558G>A | CA7656356 | CYP11A1 | c.1157+29C>T (n.1157+29C>T) c.683+29C>T (n.683+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339558G= | CA2187637835 | CYP11A1 | c.1157+29C= (n.1157+29C=) c.683+29C= (n.683+29C=) | |
15 | g.74339562dup | CA7656355 | CYP11A1 | c.1157+29dup (n.1157+29dup) c.683+29dup (n.683+29dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339562del | CA619107402 | CYP11A1 | c.1157+29del (n.1157+29del) c.683+29del (n.683+29del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339560G>A | CA2629468479 | CYP11A1 | c.1157+27C>T (n.1157+27C>T) c.683+27C>T (n.683+27C>T) | gnomAD v4 |
15 | g.74339560G>C | CA971484874 | CYP11A1 | c.1157+27C>G (n.1157+27C>G) c.683+27C>G (n.683+27C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74339560G= | CA2187637839 | CYP11A1 | c.1157+27C= (n.1157+27C=) c.683+27C= (n.683+27C=) | |
15 | g.74339560G>T | CA2804754733 | CYP11A1 | c.1157+27C>A (n.1157+27C>A) c.683+27C>A (n.683+27C>A) | |
15 | g.74339561G>A | CA2629468480 | CYP11A1 | c.1157+26C>T (n.1157+26C>T) c.683+26C>T (n.683+26C>T) | gnomAD v4 |
15 | g.74339562G>A | CA619107405 | CYP11A1 | c.1157+25C>T (n.1157+25C>T) c.683+25C>T (n.683+25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339562G= | CA2187637841 | CYP11A1 | c.1157+25C= (n.1157+25C=) c.683+25C= (n.683+25C=) | |
15 | g.74339562G>T | CA7656357 | CYP11A1 | c.1157+25C>A (n.1157+25C>A) c.683+25C>A (n.683+25C>A) | dbSNP ExAC gnomAD v2 |
15 | g.74339563C>A | CA272786831 | CYP11A1 | c.1157+24G>T (n.1157+24G>T) c.683+24G>T (n.683+24G>T) | dbSNP gnomAD v4 |
15 | g.74339563C= | CA2187637844 | CYP11A1 | c.1157+24G= (n.1157+24G=) c.683+24G= (n.683+24G=) | |
15 | g.74339563C>T | CA619107407 | CYP11A1 | c.1157+24G>A (n.1157+24G>A) c.683+24G>A (n.683+24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339564G>A | CA7656358 | CYP11A1 | c.1157+23C>T (n.1157+23C>T) c.683+23C>T (n.683+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339564G>C | CA619107408 | CYP11A1 | c.1157+23C>G (n.1157+23C>G) c.683+23C>G (n.683+23C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339564G= | CA2187637846 | CYP11A1 | c.1157+23C= (n.1157+23C=) c.683+23C= (n.683+23C=) | |
15 | g.74339564G>T | CA2575788275 | CYP11A1 | c.1157+23C>A (n.1157+23C>A) c.683+23C>A (n.683+23C>A) | |
15 | g.74339565G>A | CA2187637849 | CYP11A1 | c.1157+22C>T (n.1157+22C>T) c.683+22C>T (n.683+22C>T) | dbSNP gnomAD v4 |
15 | g.74339565G= | CA2187637848 | CYP11A1 | c.1157+22C= (n.1157+22C=) c.683+22C= (n.683+22C=) | |
15 | g.74339566C= | CA2187637850 | CYP11A1 | c.1157+21G= (n.1157+21G=) c.683+21G= (n.683+21G=) | |
15 | g.74339566C>T | CA491193969 | CYP11A1 | c.1157+21G>A (n.1157+21G>A) c.683+21G>A (n.683+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339567A= | CA2187637851 | CYP11A1 | c.1157+20T= (n.1157+20T=) c.683+20T= (n.683+20T=) | |
15 | g.74339567A>C | CA2629468482 | CYP11A1 | c.1157+20T>G (n.1157+20T>G) c.683+20T>G (n.683+20T>G) | gnomAD v4 |
15 | g.74339567A>T | CA7656359 | CYP11A1 | c.1157+20T>A (n.1157+20T>A) c.683+20T>A (n.683+20T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74339568T>C | CA2697549225 | CYP11A1 | c.1157+19A>G (n.1157+19A>G) c.683+19A>G (n.683+19A>G) | ClinVar |
15 | g.74339570G>A | CA2187637855 | CYP11A1 | c.1157+17C>T (n.1157+17C>T) c.683+17C>T (n.683+17C>T) | dbSNP gnomAD v4 |
15 | g.74339570G= | CA2187637854 | CYP11A1 | c.1157+17C= (n.1157+17C=) c.683+17C= (n.683+17C=) | |
15 | g.74339571G>A | CA2730918310 | CYP11A1 | c.1157+16C>T (n.1157+16C>T) c.683+16C>T (n.683+16C>T) | dbSNP |
15 | g.74339571G= | CA2187637856 | CYP11A1 | c.1157+16C= (n.1157+16C=) c.683+16C= (n.683+16C=) | |
15 | g.74339571G>T | CA7656360 | CYP11A1 | c.1157+16C>A (n.1157+16C>A) c.683+16C>A (n.683+16C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339572T>C | CA2739269571 | CYP11A1 | c.1157+15A>G (n.1157+15A>G) c.683+15A>G (n.683+15A>G) | ClinVar |
15 | g.74339573G>A | CA2187637860 | CYP11A1 | c.1157+14C>T (n.1157+14C>T) c.683+14C>T (n.683+14C>T) | dbSNP |
15 | g.74339573G= | CA2187637859 | CYP11A1 | c.1157+14C= (n.1157+14C=) c.683+14C= (n.683+14C=) | |
15 | g.74339574G>A | CA619107412 | CYP11A1 | c.1157+13C>T (n.1157+13C>T) c.683+13C>T (n.683+13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339574G= | CA2187637861 | CYP11A1 | c.1157+13C= (n.1157+13C=) c.683+13C= (n.683+13C=) | |
15 | g.74339574G>T | CA2739269572 | CYP11A1 | c.1157+13C>A (n.1157+13C>A) c.683+13C>A (n.683+13C>A) | ClinVar |
15 | g.74339575T>C | CA2575788276 | CYP11A1 | c.1157+12A>G (n.1157+12A>G) c.683+12A>G (n.683+12A>G) | ClinVar gnomAD v4 |
15 | g.74339576T>A | CA272786859 | CYP11A1 | c.1157+11A>T (n.1157+11A>T) c.683+11A>T (n.683+11A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339576T= | CA2187637863 | CYP11A1 | c.1157+11A= (n.1157+11A=) c.683+11A= (n.683+11A=) | |
15 | g.74339577G>C | CA2629468483 | CYP11A1 | c.1157+10C>G (n.1157+10C>G) c.683+10C>G (n.683+10C>G) | gnomAD v4 |
15 | g.74339578T>C | CA2697549226 | CYP11A1 | c.1157+9A>G (n.1157+9A>G) c.683+9A>G (n.683+9A>G) | ClinVar |
15 | g.74339578T>G | CA2187637865 | CYP11A1 | c.1157+9A>C (n.1157+9A>C) c.683+9A>C (n.683+9A>C) | dbSNP |
15 | g.74339578T= | CA2187637866 | CYP11A1 | c.1157+9A= (n.1157+9A=) c.683+9A= (n.683+9A=) | |
15 | g.74339580G>A | CA2629468484 | CYP11A1 | c.1157+7C>T (n.1157+7C>T) c.683+7C>T (n.683+7C>T) | ClinVar gnomAD v4 |
15 | g.74339581G>A | CA715643412 | CYP11A1 | c.1157+6C>T (n.1157+6C>T) c.683+6C>T (n.683+6C>T) | dbSNP |
15 | g.74339581G>C | CA2629468485 | CYP11A1 | c.1157+6C>G (n.1157+6C>G) c.683+6C>G (n.683+6C>G) | gnomAD v4 |
15 | g.74339581G= | CA2187637867 | CYP11A1 | c.1157+6C= (n.1157+6C=) c.683+6C= (n.683+6C=) | |
15 | g.74339582C= | CA2187637869 | CYP11A1 | c.1157+5G= (n.1157+5G=) c.683+5G= (n.683+5G=) | |
15 | g.74339582C>T | CA272786863 | CYP11A1 | c.1157+5G>A (n.1157+5G>A) c.683+5G>A (n.683+5G>A) | dbSNP |
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) |