Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31531334G>A | CA2740260374 | SRD5A2 | c.547+37C>T (n.547+37C>T) c.325+37C>T (n.325+37C>T) c.292+37C>T (n.292+37C>T) | |
2 | g.31531334G>T | CA2658498535 | SRD5A2 | c.547+37C>A (n.547+37C>A) c.325+37C>A (n.325+37C>A) c.292+37C>A (n.292+37C>A) | gnomAD v4 |
2 | g.31531335G>A | CA1242198281 | SRD5A2 | c.547+36C>T (n.547+36C>T) c.325+36C>T (n.325+36C>T) c.292+36C>T (n.292+36C>T) | dbSNP |
2 | g.31531335G= | CA1242198280 | SRD5A2 | c.547+36C= (n.547+36C=) c.325+36C= (n.325+36C=) c.292+36C= (n.292+36C=) | |
2 | g.31531335G>T | CA2658498536 | SRD5A2 | c.547+36C>A (n.547+36C>A) c.325+36C>A (n.325+36C>A) c.292+36C>A (n.292+36C>A) | gnomAD v4 |
2 | g.31531336G>A | CA531712310 | SRD5A2 | c.547+35C>T (n.547+35C>T) c.325+35C>T (n.325+35C>T) c.292+35C>T (n.292+35C>T) | dbSNP gnomAD v2 |
2 | g.31531336G= | CA1242198282 | SRD5A2 | c.547+35C= (n.547+35C=) c.325+35C= (n.325+35C=) c.292+35C= (n.292+35C=) | |
2 | g.31531336G>T | CA2658498537 | SRD5A2 | c.547+35C>A (n.547+35C>A) c.325+35C>A (n.325+35C>A) c.292+35C>A (n.292+35C>A) | gnomAD v4 |
2 | g.31531338A= | CA1242198283 | SRD5A2 | c.547+33T= (n.547+33T=) c.325+33T= (n.325+33T=) c.292+33T= (n.292+33T=) | |
2 | g.31531338A>C | CA1599910 | SRD5A2 | c.547+33T>G (n.547+33T>G) c.325+33T>G (n.325+33T>G) c.292+33T>G (n.292+33T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531338A>T | CA2576929454 | SRD5A2 | c.547+33T>A (n.547+33T>A) c.325+33T>A (n.325+33T>A) c.292+33T>A (n.292+33T>A) | |
2 | g.31531339G>A | CA531712315 | SRD5A2 | c.547+32C>T (n.547+32C>T) c.325+32C>T (n.325+32C>T) c.292+32C>T (n.292+32C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531339G>C | CA1599911 | SRD5A2 | c.547+32C>G (n.547+32C>G) c.325+32C>G (n.325+32C>G) c.292+32C>G (n.292+32C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531339G= | CA1242198284 | SRD5A2 | c.547+32C= (n.547+32C=) c.325+32C= (n.325+32C=) c.292+32C= (n.292+32C=) | |
2 | g.31531339G>T | CA2658498543 | SRD5A2 | c.547+32C>A (n.547+32C>A) c.325+32C>A (n.325+32C>A) c.292+32C>A (n.292+32C>A) | gnomAD v4 |
2 | g.31531340A>G | CA2658498544 | SRD5A2 | c.547+31T>C (n.547+31T>C) c.325+31T>C (n.325+31T>C) c.292+31T>C (n.292+31T>C) | gnomAD v4 |
2 | g.31531341G>A | CA1599912 | SRD5A2 | c.547+30C>T (n.547+30C>T) c.325+30C>T (n.325+30C>T) c.292+30C>T (n.292+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531341G= | CA1242198285 | SRD5A2 | c.547+30C= (n.547+30C=) c.325+30C= (n.325+30C=) c.292+30C= (n.292+30C=) | |
2 | g.31531341G>T | CA2658498548 | SRD5A2 | c.547+30C>A (n.547+30C>A) c.325+30C>A (n.325+30C>A) c.292+30C>A (n.292+30C>A) | gnomAD v4 |
2 | g.31531342T>C | CA2658498550 | SRD5A2 | c.547+29A>G (n.547+29A>G) c.325+29A>G (n.325+29A>G) c.292+29A>G (n.292+29A>G) | gnomAD v4 |
2 | g.31531342T>G | CA1242198288 | SRD5A2 | c.547+29A>C (n.547+29A>C) c.325+29A>C (n.325+29A>C) c.292+29A>C (n.292+29A>C) | dbSNP gnomAD v4 |
2 | g.31531342T= | CA1242198287 | SRD5A2 | c.547+29A= (n.547+29A=) c.325+29A= (n.325+29A=) c.292+29A= (n.292+29A=) | |
2 | g.31531342_31531344delinsTGA | CA1242198286 | SRD5A2 | c.547+27_547+29delinsTCA (n.547+27_547+29delinsTCA) c.325+27_325+29delinsTCA (n.325+27_325+29delinsTCA) c.292+27_292+29delinsTCA (n.292+27_292+29delinsTCA) | |
2 | g.31531343G>T | CA2658498552 | SRD5A2 | c.547+28C>A (n.547+28C>A) c.325+28C>A (n.325+28C>A) c.292+28C>A (n.292+28C>A) | gnomAD v4 |
2 | g.31531346_31531347del | CA531712319 | SRD5A2 | c.547+27_547+28del (n.547+27_547+28del) c.325+27_325+28del (n.325+27_325+28del) c.292+27_292+28del (n.292+27_292+28del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531344A>G | CA2511269172 | SRD5A2 | c.547+27T>C (n.547+27T>C) c.325+27T>C (n.325+27T>C) c.292+27T>C (n.292+27T>C) | gnomAD v4 |
2 | g.31531345G>C | CA45136525 | SRD5A2 | c.547+26C>G (n.547+26C>G) c.325+26C>G (n.325+26C>G) c.292+26C>G (n.292+26C>G) | dbSNP gnomAD v4 |
2 | g.31531345G= | CA1242198289 | SRD5A2 | c.547+26C= (n.547+26C=) c.325+26C= (n.325+26C=) c.292+26C= (n.292+26C=) | |
2 | g.31531345G>T | CA2658498553 | SRD5A2 | c.547+26C>A (n.547+26C>A) c.325+26C>A (n.325+26C>A) c.292+26C>A (n.292+26C>A) | gnomAD v4 |
2 | g.31531346A= | CA1242198290 | SRD5A2 | c.547+25T= (n.547+25T=) c.325+25T= (n.325+25T=) c.292+25T= (n.292+25T=) | |
2 | g.31531346A>C | CA2658498554 | SRD5A2 | c.547+25T>G (n.547+25T>G) c.325+25T>G (n.325+25T>G) c.292+25T>G (n.292+25T>G) | gnomAD v4 |
2 | g.31531346A>G | CA531712320 | SRD5A2 | c.547+25T>C (n.547+25T>C) c.325+25T>C (n.325+25T>C) c.292+25T>C (n.292+25T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531347G>A | CA2570828935 | SRD5A2 | c.547+24C>T (n.547+24C>T) c.325+24C>T (n.325+24C>T) c.292+24C>T (n.292+24C>T) | gnomAD v4 |
2 | g.31531347G>T | CA2576929455 | SRD5A2 | c.547+24C>A (n.547+24C>A) c.325+24C>A (n.325+24C>A) c.292+24C>A (n.292+24C>A) | gnomAD v4 |
2 | g.31531350T>A | CA2658498556 | SRD5A2 | c.547+21A>T (n.547+21A>T) c.325+21A>T (n.325+21A>T) c.292+21A>T (n.292+21A>T) | gnomAD v4 |
2 | g.31531351G>C | CA2658498561 | SRD5A2 | c.547+20C>G (n.547+20C>G) c.325+20C>G (n.325+20C>G) c.292+20C>G (n.292+20C>G) | gnomAD v4 |
2 | g.31531351G>T | CA2576929457 | SRD5A2 | c.547+20C>A (n.547+20C>A) c.325+20C>A (n.325+20C>A) c.292+20C>A (n.292+20C>A) | |
2 | g.31531355dup | CA2658498559 | SRD5A2 | c.547+20dup (n.547+20dup) c.325+20dup (n.325+20dup) c.292+20dup (n.292+20dup) | gnomAD v4 |
2 | g.31531355del | CA2658498560 | SRD5A2 | c.547+20del (n.547+20del) c.325+20del (n.325+20del) c.292+20del (n.292+20del) | gnomAD v4 |
2 | g.31531354_31531355del | CA2576929456 | SRD5A2 | c.547+19_547+20del (n.547+19_547+20del) c.325+19_325+20del (n.325+19_325+20del) c.292+19_292+20del (n.292+19_292+20del) | |
2 | g.31531352G>A | CA2739274289 | SRD5A2 | c.547+19C>T (n.547+19C>T) c.325+19C>T (n.325+19C>T) c.292+19C>T (n.292+19C>T) | ClinVar |
2 | g.31531352G>C | CA1242198292 | SRD5A2 | c.547+19C>G (n.547+19C>G) c.325+19C>G (n.325+19C>G) c.292+19C>G (n.292+19C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.31531352G= | CA1242198291 | SRD5A2 | c.547+19C= (n.547+19C=) c.325+19C= (n.325+19C=) c.292+19C= (n.292+19C=) | |
2 | g.31531352G>T | CA2658498565 | SRD5A2 | c.547+19C>A (n.547+19C>A) c.325+19C>A (n.325+19C>A) c.292+19C>A (n.292+19C>A) | gnomAD v4 |
2 | g.31531353G>A | CA2533108731 | SRD5A2 | c.547+18C>T (n.547+18C>T) c.325+18C>T (n.325+18C>T) c.292+18C>T (n.292+18C>T) | gnomAD v4 |
2 | g.31531354G>A | CA1599913 | SRD5A2 | c.547+17C>T (n.547+17C>T) c.325+17C>T (n.325+17C>T) c.292+17C>T (n.292+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531354G= | CA1242198293 | SRD5A2 | c.547+17C= (n.547+17C=) c.325+17C= (n.325+17C=) c.292+17C= (n.292+17C=) | |
2 | g.31531354G>T | CA2658498572 | SRD5A2 | c.547+17C>A (n.547+17C>A) c.325+17C>A (n.325+17C>A) c.292+17C>A (n.292+17C>A) | gnomAD v4 |
2 | g.31531355G>A | CA1242198295 | SRD5A2 | c.547+16C>T (n.547+16C>T) c.325+16C>T (n.325+16C>T) c.292+16C>T (n.292+16C>T) | dbSNP gnomAD v4 |
2 | g.31531355G= | CA1242198294 | SRD5A2 | c.547+16C= (n.547+16C=) c.325+16C= (n.325+16C=) c.292+16C= (n.292+16C=) | |
2 | g.31531355G>T | CA1028963412 | SRD5A2 | c.547+16C>A (n.547+16C>A) c.325+16C>A (n.325+16C>A) c.292+16C>A (n.292+16C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531356C>A | CA2658498579 | SRD5A2 | c.547+15G>T (n.547+15G>T) c.325+15G>T (n.325+15G>T) c.292+15G>T (n.292+15G>T) | gnomAD v4 |
2 | g.31531356C>T | CA2658498578 | SRD5A2 | c.547+15G>A (n.547+15G>A) c.325+15G>A (n.325+15G>A) c.292+15G>A (n.292+15G>A) | gnomAD v4 |
2 | g.31531357A= | CA1242198296 | SRD5A2 | c.547+14T= (n.547+14T=) c.325+14T= (n.325+14T=) c.292+14T= (n.292+14T=) | |
2 | g.31531357A>G | CA531712323 | SRD5A2 | c.547+14T>C (n.547+14T>C) c.325+14T>C (n.325+14T>C) c.292+14T>C (n.292+14T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531358G>A | CA2658498583 | SRD5A2 | c.547+13C>T (n.547+13C>T) c.325+13C>T (n.325+13C>T) c.292+13C>T (n.292+13C>T) | gnomAD v4 |
2 | g.31531358G>T | CA2576929459 | SRD5A2 | c.547+13C>A (n.547+13C>A) c.325+13C>A (n.325+13C>A) c.292+13C>A (n.292+13C>A) | gnomAD v4 |
2 | g.31531361del | CA2576929458 | SRD5A2 | c.547+13del (n.547+13del) c.325+13del (n.325+13del) c.292+13del (n.292+13del) | gnomAD v4 |
2 | g.31531359G>A | CA531712324 | SRD5A2 | c.547+12C>T (n.547+12C>T) c.325+12C>T (n.325+12C>T) c.292+12C>T (n.292+12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531359G= | CA1242198297 | SRD5A2 | c.547+12C= (n.547+12C=) c.325+12C= (n.325+12C=) c.292+12C= (n.292+12C=) | |
2 | g.31531359G>T | CA2658498586 | SRD5A2 | c.547+12C>A (n.547+12C>A) c.325+12C>A (n.325+12C>A) c.292+12C>A (n.292+12C>A) | gnomAD v4 |
2 | g.31531360G>A | CA2658498589 | SRD5A2 | c.547+11C>T (n.547+11C>T) c.325+11C>T (n.325+11C>T) c.292+11C>T (n.292+11C>T) | gnomAD v4 |
2 | g.31531360G>C | CA531712325 | SRD5A2 | c.547+11C>G (n.547+11C>G) c.325+11C>G (n.325+11C>G) c.292+11C>G (n.292+11C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531360G= | CA1242198298 | SRD5A2 | c.547+11C= (n.547+11C=) c.325+11C= (n.325+11C=) c.292+11C= (n.292+11C=) | |
2 | g.31531360G>T | CA1242198299 | SRD5A2 | c.547+11C>A (n.547+11C>A) c.325+11C>A (n.325+11C>A) c.292+11C>A (n.292+11C>A) | dbSNP gnomAD v4 |
2 | g.31531361G>A | CA2658498592 | SRD5A2 | c.547+10C>T (n.547+10C>T) c.325+10C>T (n.325+10C>T) c.292+10C>T (n.292+10C>T) | gnomAD v4 |
2 | g.31531361G>T | CA2658498594 | SRD5A2 | c.547+10C>A (n.547+10C>A) c.325+10C>A (n.325+10C>A) c.292+10C>A (n.292+10C>A) | gnomAD v4 |
2 | g.31531362A>C | CA2658498596 | SRD5A2 | c.547+9T>G (n.547+9T>G) c.325+9T>G (n.325+9T>G) c.292+9T>G (n.292+9T>G) | gnomAD v4 |
2 | g.31531362A>G | CA2658498597 | SRD5A2 | c.547+9T>C (n.547+9T>C) c.325+9T>C (n.325+9T>C) c.292+9T>C (n.292+9T>C) | gnomAD v4 |
2 | g.31531362A>T | CA2658498599 | SRD5A2 | c.547+9T>A (n.547+9T>A) c.325+9T>A (n.325+9T>A) c.292+9T>A (n.292+9T>A) | gnomAD v4 |
2 | g.31531363G>T | CA2658498601 | SRD5A2 | c.547+8C>A (n.547+8C>A) c.325+8C>A (n.325+8C>A) c.292+8C>A (n.292+8C>A) | gnomAD v4 |
2 | g.31531364A= | CA1242198300 | SRD5A2 | c.547+7T= (n.547+7T=) c.325+7T= (n.325+7T=) c.292+7T= (n.292+7T=) | |
2 | g.31531364A>G | CA767760019 | SRD5A2 | c.547+7T>C (n.547+7T>C) c.325+7T>C (n.325+7T>C) c.292+7T>C (n.292+7T>C) | dbSNP gnomAD v4 |
2 | g.31531364A>T | CA2658498603 | SRD5A2 | c.547+7T>A (n.547+7T>A) c.325+7T>A (n.325+7T>A) c.292+7T>A (n.292+7T>A) | gnomAD v4 |
2 | g.31531365C>A | CA531712326 | SRD5A2 | c.547+6G>T (n.547+6G>T) c.325+6G>T (n.325+6G>T) c.292+6G>T (n.292+6G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531365C= | CA1242198301 | SRD5A2 | c.547+6G= (n.547+6G=) c.325+6G= (n.325+6G=) c.292+6G= (n.292+6G=) | |
2 | g.31531365C>T | CA767760025 | SRD5A2 | c.547+6G>A (n.547+6G>A) c.325+6G>A (n.325+6G>A) c.292+6G>A (n.292+6G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531366A>C | CA2658498608 | SRD5A2 | c.547+5T>G (n.547+5T>G) c.325+5T>G (n.325+5T>G) c.292+5T>G (n.292+5T>G) | gnomAD v4 |
2 | g.31531366A>T | CA2658498609 | SRD5A2 | c.547+5T>A (n.547+5T>A) c.325+5T>A (n.325+5T>A) c.292+5T>A (n.292+5T>A) | gnomAD v4 |
2 | g.31531367T>A | CA2658498613 | SRD5A2 | c.547+4A>T (n.547+4A>T) c.325+4A>T (n.325+4A>T) c.292+4A>T (n.292+4A>T) | gnomAD v4 |
2 | g.31531367T>C | CA2658498611 | SRD5A2 | c.547+4A>G (n.547+4A>G) c.325+4A>G (n.325+4A>G) c.292+4A>G (n.292+4A>G) | gnomAD v4 |
2 | g.31531368T>C | CA2576929460 | SRD5A2 | c.547+3A>G (n.547+3A>G) c.325+3A>G (n.325+3A>G) c.292+3A>G (n.292+3A>G) | gnomAD v4 |
2 | g.31531369A>C | CA346598151 | SRD5A2 | c.547+2T>G (n.547+2T>G) c.325+2T>G (n.325+2T>G) c.292+2T>G (n.292+2T>G) | |
2 | g.31531369A>G | CA346598152 | SRD5A2 | c.547+2T>C (n.547+2T>C) c.325+2T>C (n.325+2T>C) c.292+2T>C (n.292+2T>C) | gnomAD v4 |
2 | g.31531369A>T | CA346598153 | SRD5A2 | c.547+2T>A (n.547+2T>A) c.325+2T>A (n.325+2T>A) c.292+2T>A (n.292+2T>A) | |
2 | g.31531370C>A | CA346598154 | SRD5A2 | c.547+1G>T (n.547+1G>T) c.325+1G>T (n.325+1G>T) c.292+1G>T (n.292+1G>T) | gnomAD v4 |
2 | g.31531370C>G | CA346598155 | SRD5A2 | c.547+1G>C (n.547+1G>C) c.325+1G>C (n.325+1G>C) c.292+1G>C (n.292+1G>C) | ClinVar |
2 | g.31531370C>T | CA346598156 | SRD5A2 | c.547+1G>A (n.547+1G>A) c.325+1G>A (n.325+1G>A) c.292+1G>A (n.292+1G>A) | gnomAD v4 |
2 | g.31531371C>A | CA346598157 | SRD5A2 | c.547G>T (p.Gly183Cys) c.325G>T (p.Gly109Cys) c.292G>T (p.Gly98Cys) | gnomAD v4 |
2 | g.31531371C= | CA1242198302 | SRD5A2 | c.547G= (p.Gly183=) c.325G= (p.Gly109=) c.292G= (p.Gly98=) | |
2 | g.31531371C>G | CA346598158 | SRD5A2 | c.547G>C (p.Gly183Arg) c.325G>C (p.Gly109Arg) c.292G>C (p.Gly98Arg) | |
2 | g.31531371C>T | CA340072 | SRD5A2 | c.547G>A (p.Gly183Ser) c.325G>A (p.Gly109Ser) c.292G>A (p.Gly98Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531372T>A | CA346598159 | SRD5A2 | c.546A>T (p.Gln182His) c.324A>T (p.Gln108His) c.291A>T (p.Gln97His) | |
2 | g.31531372T>C | CA425567502 | SRD5A2 | c.546A>G (p.Gln182=) c.324A>G (p.Gln108=) c.291A>G (p.Gln97=) | |
2 | g.31531372T>G | CA346598160 | SRD5A2 | c.546A>C (p.Gln182His) c.324A>C (p.Gln108His) c.291A>C (p.Gln97His) | |
2 | g.31531373T>A | CA346598162 | SRD5A2 | c.545A>T (p.Gln182Leu) c.323A>T (p.Gln108Leu) c.290A>T (p.Gln97Leu) | COSMIC |
2 | g.31531373T>C | CA346598163 | SRD5A2 | c.545A>G (p.Gln182Arg) c.323A>G (p.Gln108Arg) c.290A>G (p.Gln97Arg) | |
2 | g.31531373T>G | CA346598161 | SRD5A2 | c.545A>C (p.Gln182Pro) c.323A>C (p.Gln108Pro) c.290A>C (p.Gln97Pro) | |
2 | g.31531374G>A | CA346598164 | SRD5A2 | c.544C>T (p.Gln182Ter) c.322C>T (p.Gln108Ter) c.289C>T (p.Gln97Ter) | ClinVar gnomAD v4 |
2 | g.31531374G>C | CA346598165 | SRD5A2 | c.544C>G (p.Gln182Glu) c.322C>G (p.Gln108Glu) c.289C>G (p.Gln97Glu) | gnomAD v4 |
2 | g.31531374G>T | CA346598166 | SRD5A2 | c.544C>A (p.Gln182Lys) c.322C>A (p.Gln108Lys) c.289C>A (p.Gln97Lys) | |
2 | g.31531375T>A | CA425567503 | SRD5A2 | c.543A>T (p.Pro181=) c.321A>T (p.Pro107=) c.288A>T (p.Pro96=) | gnomAD v4 |
2 | g.31531375T>C | CA425567504 | SRD5A2 | c.543A>G (p.Pro181=) c.321A>G (p.Pro107=) c.288A>G (p.Pro96=) | gnomAD v4 |
2 | g.31531375T>G | CA425567505 | SRD5A2 | c.543A>C (p.Pro181=) c.321A>C (p.Pro107=) c.288A>C (p.Pro96=) | |
2 | g.31531375_31531376delinsTG | CA1242198303 | SRD5A2 | c.542_543delinsCA (p.Pro181=) c.320_321delinsCA (p.Pro107=) c.287_288delinsCA (p.Pro96=) | |
2 | g.31531376G>A | CA16042440 | SRD5A2 | c.542C>T (p.Pro181Leu) c.320C>T (p.Pro107Leu) c.287C>T (p.Pro96Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531376G>C | CA346598167 | SRD5A2 | c.542C>G (p.Pro181Arg) c.320C>G (p.Pro107Arg) c.287C>G (p.Pro96Arg) | |
2 | g.31531376G= | CA1242198304 | SRD5A2 | c.542C= (p.Pro181=) c.320C= (p.Pro107=) c.287C= (p.Pro96=) | |
2 | g.31531376G>T | CA346598168 | SRD5A2 | c.542C>A (p.Pro181Gln) c.320C>A (p.Pro107Gln) c.287C>A (p.Pro96Gln) | gnomAD v4 |
2 | g.31531377del | CA531712329 | SRD5A2 | c.542del (p.Pro181HisfsTer?) c.320del (p.Pro107HisfsTer?) c.287del (p.Pro96HisfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531377G>A | CA346598169 | SRD5A2 | c.541C>T (p.Pro181Ser) c.319C>T (p.Pro107Ser) c.286C>T (p.Pro96Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531377G>C | CA346598171 | SRD5A2 | c.541C>G (p.Pro181Ala) c.319C>G (p.Pro107Ala) c.286C>G (p.Pro96Ala) | |
2 | g.31531377G= | CA1242198305 | SRD5A2 | c.541C= (p.Pro181=) c.319C= (p.Pro107=) c.286C= (p.Pro96=) | |
2 | g.31531377G>T | CA346598170 | SRD5A2 | c.541C>A (p.Pro181Thr) c.319C>A (p.Pro107Thr) c.286C>A (p.Pro96Thr) | gnomAD v4 |
2 | g.31531378A>C | CA346598172 | SRD5A2 | c.540T>G (p.Ile180Met) c.318T>G (p.Ile106Met) c.285T>G (p.Ile95Met) | |
2 | g.31531378A>G | CA425567506 | SRD5A2 | c.540T>C (p.Ile180=) c.318T>C (p.Ile106=) c.285T>C (p.Ile95=) | gnomAD v4 |
2 | g.31531378A>T | CA425567507 | SRD5A2 | c.540T>A (p.Ile180=) c.318T>A (p.Ile106=) c.285T>A (p.Ile95=) | gnomAD v4 |
2 | g.31531379A>C | CA346598173 | SRD5A2 | c.539T>G (p.Ile180Ser) c.317T>G (p.Ile106Ser) c.284T>G (p.Ile95Ser) | |
2 | g.31531379A>G | CA346598174 | SRD5A2 | c.539T>C (p.Ile180Thr) c.317T>C (p.Ile106Thr) c.284T>C (p.Ile95Thr) | gnomAD v4 |
2 | g.31531379A>T | CA346598175 | SRD5A2 | c.539T>A (p.Ile180Asn) c.317T>A (p.Ile106Asn) c.284T>A (p.Ile95Asn) | |
2 | g.31531380T>A | CA346598177 | SRD5A2 | c.538A>T (p.Ile180Phe) c.316A>T (p.Ile106Phe) c.283A>T (p.Ile95Phe) | |
2 | g.31531380T>C | CA1599914 | SRD5A2 | c.538A>G (p.Ile180Val) c.316A>G (p.Ile106Val) c.283A>G (p.Ile95Val) | dbSNP ExAC gnomAD v2 |
2 | g.31531380T>G | CA346598176 | SRD5A2 | c.538A>C (p.Ile180Leu) c.316A>C (p.Ile106Leu) c.283A>C (p.Ile95Leu) | |
2 | g.31531380T= | CA1242198306 | SRD5A2 | c.538A= (p.Ile180=) c.316A= (p.Ile106=) c.283A= (p.Ile95=) | |
2 | g.31531381C>A | CA1599915 | SRD5A2 | c.537G>T (p.Arg179Ser) c.315G>T (p.Arg105Ser) c.282G>T (p.Arg94Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531381C= | CA1242198307 | SRD5A2 | c.537G= (p.Arg179=) c.315G= (p.Arg105=) c.282G= (p.Arg94=) | |
2 | g.31531381C>G | CA346598178 | SRD5A2 | c.537G>C (p.Arg179Ser) c.315G>C (p.Arg105Ser) c.282G>C (p.Arg94Ser) | |
2 | g.31531381C>T | CA425567508 | SRD5A2 | c.537G>A (p.Arg179=) c.315G>A (p.Arg105=) c.282G>A (p.Arg94=) | ClinVar dbSNP gnomAD v4 |
2 | g.31531382C>A | CA45136526 | SRD5A2 | c.536G>T (p.Arg179Met) c.314G>T (p.Arg105Met) c.281G>T (p.Arg94Met) | dbSNP gnomAD v4 |
2 | g.31531382C= | CA1242198308 | SRD5A2 | c.536G= (p.Arg179=) c.314G= (p.Arg105=) c.281G= (p.Arg94=) | |
2 | g.31531382C>G | CA346598179 | SRD5A2 | c.536G>C (p.Arg179Thr) c.314G>C (p.Arg105Thr) c.281G>C (p.Arg94Thr) | |
2 | g.31531382C>T | CA346598180 | SRD5A2 | c.536G>A (p.Arg179Lys) c.314G>A (p.Arg105Lys) c.281G>A (p.Arg94Lys) | |
2 | g.31531383T>A | CA346598181 | SRD5A2 | c.535A>T (p.Arg179Trp) c.313A>T (p.Arg105Trp) c.280A>T (p.Arg94Trp) | |
2 | g.31531383T>C | CA346598182 | SRD5A2 | c.535A>G (p.Arg179Gly) c.313A>G (p.Arg105Gly) c.280A>G (p.Arg94Gly) | gnomAD v4 |
2 | g.31531383T>G | CA425567509 | SRD5A2 | c.535A>C (p.Arg179=) c.313A>C (p.Arg105=) c.280A>C (p.Arg94=) | ClinVar dbSNP gnomAD v4 |
2 | g.31531383T= | CA1242198309 | SRD5A2 | c.535A= (p.Arg179=) c.313A= (p.Arg105=) c.280A= (p.Arg94=) | |
2 | g.31531384del | CA2586969028 | SRD5A2 | c.534del (p.Tyr178Ter) c.312del (p.Tyr104Ter) c.279del (p.Tyr93Ter) | |
2 | g.31531384G>A | CA425567510 | SRD5A2 | c.534C>T (p.Tyr178=) c.312C>T (p.Tyr104=) c.279C>T (p.Tyr93=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531384G>C | CA346598183 | SRD5A2 | c.534C>G (p.Tyr178Ter) c.312C>G (p.Tyr104Ter) c.279C>G (p.Tyr93Ter) | |
2 | g.31531384G= | CA1242198310 | SRD5A2 | c.534C= (p.Tyr178=) c.312C= (p.Tyr104=) c.279C= (p.Tyr93=) | |
2 | g.31531384G>T | CA346598184 | SRD5A2 | c.534C>A (p.Tyr178Ter) c.312C>A (p.Tyr104Ter) c.279C>A (p.Tyr93Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531385T>A | CA346598187 | SRD5A2 | c.533A>T (p.Tyr178Phe) c.311A>T (p.Tyr104Phe) c.278A>T (p.Tyr93Phe) | |
2 | g.31531385T>C | CA346598185 | SRD5A2 | c.533A>G (p.Tyr178Cys) c.311A>G (p.Tyr104Cys) c.278A>G (p.Tyr93Cys) | gnomAD v4 |
2 | g.31531385T>G | CA346598186 | SRD5A2 | c.533A>C (p.Tyr178Ser) c.311A>C (p.Tyr104Ser) c.278A>C (p.Tyr93Ser) | |
2 | g.31531386A>C | CA346598188 | SRD5A2 | c.532T>G (p.Tyr178Asp) c.310T>G (p.Tyr104Asp) c.277T>G (p.Tyr93Asp) | |
2 | g.31531386A>G | CA346598189 | SRD5A2 | c.532T>C (p.Tyr178His) c.310T>C (p.Tyr104His) c.277T>C (p.Tyr93His) | |
2 | g.31531386A>T | CA346598190 | SRD5A2 | c.532T>A (p.Tyr178Asn) c.310T>A (p.Tyr104Asn) c.277T>A (p.Tyr93Asn) | gnomAD v4 |
2 | g.31531387G>A | CA425567511 | SRD5A2 | c.531C>T (p.Ser177=) c.309C>T (p.Ser103=) c.276C>T (p.Ser92=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531387G>C | CA346598191 | SRD5A2 | c.531C>G (p.Ser177Arg) c.309C>G (p.Ser103Arg) c.276C>G (p.Ser92Arg) | |
2 | g.31531387G= | CA1242198311 | SRD5A2 | c.531C= (p.Ser177=) c.309C= (p.Ser103=) c.276C= (p.Ser92=) | |
2 | g.31531387G>T | CA346598192 | SRD5A2 | c.531C>A (p.Ser177Arg) c.309C>A (p.Ser103Arg) c.276C>A (p.Ser92Arg) | gnomAD v4 |
2 | g.31531388C>A | CA346598193 | SRD5A2 | c.530G>T (p.Ser177Ile) c.308G>T (p.Ser103Ile) c.275G>T (p.Ser92Ile) | gnomAD v4 |
2 | g.31531388C= | CA1242198312 | SRD5A2 | c.530G= (p.Ser177=) c.308G= (p.Ser103=) c.275G= (p.Ser92=) | |
2 | g.31531388C>G | CA346598195 | SRD5A2 | c.530G>C (p.Ser177Thr) c.308G>C (p.Ser103Thr) c.275G>C (p.Ser92Thr) | |
2 | g.31531388C>T | CA346598194 | SRD5A2 | c.530G>A (p.Ser177Asn) c.308G>A (p.Ser103Asn) c.275G>A (p.Ser92Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531389T>A | CA346598196 | SRD5A2 | c.529A>T (p.Ser177Cys) c.307A>T (p.Ser103Cys) c.274A>T (p.Ser92Cys) | |
2 | g.31531389T>C | CA346598197 | SRD5A2 | c.529A>G (p.Ser177Gly) c.307A>G (p.Ser103Gly) c.274A>G (p.Ser92Gly) | gnomAD v4 |
2 | g.31531389T>G | CA346598198 | SRD5A2 | c.529A>C (p.Ser177Arg) c.307A>C (p.Ser103Arg) c.274A>C (p.Ser92Arg) | |
2 | g.31531390G>A | CA425567521 | SRD5A2 | c.528C>T (p.Ile176=) c.306C>T (p.Ile102=) c.273C>T (p.Ile91=) | |
2 | g.31531390G>C | CA346598199 | SRD5A2 | c.528C>G (p.Ile176Met) c.306C>G (p.Ile102Met) c.273C>G (p.Ile91Met) | |
2 | g.31531390G>T | CA425567523 | SRD5A2 | c.528C>A (p.Ile176=) c.306C>A (p.Ile102=) c.273C>A (p.Ile91=) | gnomAD v4 |
2 | g.31531391A>C | CA346598200 | SRD5A2 | c.527T>G (p.Ile176Ser) c.305T>G (p.Ile102Ser) c.272T>G (p.Ile91Ser) | |
2 | g.31531391A>G | CA346598201 | SRD5A2 | c.527T>C (p.Ile176Thr) c.305T>C (p.Ile102Thr) c.272T>C (p.Ile91Thr) | |
2 | g.31531391A>T | CA346598202 | SRD5A2 | c.527T>A (p.Ile176Asn) c.305T>A (p.Ile102Asn) c.272T>A (p.Ile91Asn) | |
2 | g.31531392T>A | CA346598203 | SRD5A2 | c.526A>T (p.Ile176Phe) c.304A>T (p.Ile102Phe) c.271A>T (p.Ile91Phe) | |
2 | g.31531392T>C | CA346598204 | SRD5A2 | c.526A>G (p.Ile176Val) c.304A>G (p.Ile102Val) c.271A>G (p.Ile91Val) | |
2 | g.31531392T>G | CA346598205 | SRD5A2 | c.526A>C (p.Ile176Leu) c.304A>C (p.Ile102Leu) c.271A>C (p.Ile91Leu) | |
2 | g.31531393T>A | CA346598206 | SRD5A2 | c.525A>T (p.Glu175Asp) c.303A>T (p.Glu101Asp) c.270A>T (p.Glu90Asp) | |
2 | g.31531393T>C | CA425567530 | SRD5A2 | c.525A>G (p.Glu175=) c.303A>G (p.Glu101=) c.270A>G (p.Glu90=) | |
2 | g.31531393T>G | CA346598207 | SRD5A2 | c.525A>C (p.Glu175Asp) c.303A>C (p.Glu101Asp) c.270A>C (p.Glu90Asp) | |
2 | g.31531394T>A | CA346598208 | SRD5A2 | c.524A>T (p.Glu175Val) c.302A>T (p.Glu101Val) c.269A>T (p.Glu90Val) | |
2 | g.31531394T>C | CA346598210 | SRD5A2 | c.524A>G (p.Glu175Gly) c.302A>G (p.Glu101Gly) c.269A>G (p.Glu90Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531394T>G | CA346598209 | SRD5A2 | c.524A>C (p.Glu175Ala) c.302A>C (p.Glu101Ala) c.269A>C (p.Glu90Ala) | |
2 | g.31531394T= | CA1242198313 | SRD5A2 | c.524A= (p.Glu175=) c.302A= (p.Glu101=) c.269A= (p.Glu90=) | |
2 | g.31531395C>A | CA346598211 | SRD5A2 | c.523G>T (p.Glu175Ter) c.301G>T (p.Glu101Ter) c.268G>T (p.Glu90Ter) | gnomAD v4 COSMIC |
2 | g.31531395C>G | CA346598212 | SRD5A2 | c.523G>C (p.Glu175Gln) c.301G>C (p.Glu101Gln) c.268G>C (p.Glu90Gln) | |
2 | g.31531395C>T | CA346598213 | SRD5A2 | c.523G>A (p.Glu175Lys) c.301G>A (p.Glu101Lys) c.268G>A (p.Glu90Lys) | |
2 | g.31531396T>A | CA425567537 | SRD5A2 | c.522A>T (p.Gly174=) c.300A>T (p.Gly100=) c.267A>T (p.Gly89=) | |
2 | g.31531396T>C | CA425567538 | SRD5A2 | c.522A>G (p.Gly174=) c.300A>G (p.Gly100=) c.267A>G (p.Gly89=) | gnomAD v4 |
2 | g.31531396T>G | CA425567540 | SRD5A2 | c.522A>C (p.Gly174=) c.300A>C (p.Gly100=) c.267A>C (p.Gly89=) | |
2 | g.31531397C>A | CA346598214 | SRD5A2 | c.521G>T (p.Gly174Val) c.299G>T (p.Gly100Val) c.266G>T (p.Gly89Val) | gnomAD v4 |
2 | g.31531397C>G | CA346598215 | SRD5A2 | c.521G>C (p.Gly174Ala) c.299G>C (p.Gly100Ala) c.266G>C (p.Gly89Ala) | |
2 | g.31531397C>T | CA346598216 | SRD5A2 | c.521G>A (p.Gly174Glu) c.299G>A (p.Gly100Glu) c.266G>A (p.Gly89Glu) | |
2 | g.31531398C>A | CA346598217 | SRD5A2 | c.520G>T (p.Gly174Ter) c.298G>T (p.Gly100Ter) c.265G>T (p.Gly89Ter) | gnomAD v4 |
2 | g.31531398C= | CA1242198314 | SRD5A2 | c.520G= (p.Gly174=) c.298G= (p.Gly100=) c.265G= (p.Gly89=) | |
2 | g.31531398C>G | CA346598218 | SRD5A2 | c.520G>C (p.Gly174Arg) c.298G>C (p.Gly100Arg) c.265G>C (p.Gly89Arg) | |
2 | g.31531398C>T | CA45136527 | SRD5A2 | c.520G>A (p.Gly174Arg) c.298G>A (p.Gly100Arg) c.265G>A (p.Gly89Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531399A= | CA1242198315 | SRD5A2 | c.519T= (p.Pro173=) c.297T= (p.Pro99=) c.264T= (p.Pro88=) | |
2 | g.31531399A>C | CA425567548 | SRD5A2 | c.519T>G (p.Pro173=) c.297T>G (p.Pro99=) c.264T>G (p.Pro88=) | |
2 | g.31531399A>G | CA425567551 | SRD5A2 | c.519T>C (p.Pro173=) c.297T>C (p.Pro99=) c.264T>C (p.Pro88=) | gnomAD v4 |
2 | g.31531399A>T | CA425567550 | SRD5A2 | c.519T>A (p.Pro173=) c.297T>A (p.Pro99=) c.264T>A (p.Pro88=) | dbSNP gnomAD v2 |
2 | g.31531400G>A | CA346598219 | SRD5A2 | c.518C>T (p.Pro173Leu) c.296C>T (p.Pro99Leu) c.263C>T (p.Pro88Leu) | dbSNP gnomAD v4 |
2 | g.31531400G>C | CA346598220 | SRD5A2 | c.518C>G (p.Pro173Arg) c.296C>G (p.Pro99Arg) c.263C>G (p.Pro88Arg) | gnomAD v4 |
2 | g.31531400G= | CA1242198316 | SRD5A2 | c.518C= (p.Pro173=) c.296C= (p.Pro99=) c.263C= (p.Pro88=) | |
2 | g.31531400G>T | CA346598221 | SRD5A2 | c.518C>A (p.Pro173His) c.296C>A (p.Pro99His) c.263C>A (p.Pro88His) | |
2 | g.31531401G>A | CA1599916 | SRD5A2 | c.517C>T (p.Pro173Ser) c.295C>T (p.Pro99Ser) c.262C>T (p.Pro88Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531401G>C | CA346598223 | SRD5A2 | c.517C>G (p.Pro173Ala) c.295C>G (p.Pro99Ala) c.262C>G (p.Pro88Ala) | gnomAD v4 |
2 | g.31531401G= | CA1242198317 | SRD5A2 | c.517C= (p.Pro173=) c.295C= (p.Pro99=) c.262C= (p.Pro88=) | |
2 | g.31531401G>T | CA346598222 | SRD5A2 | c.517C>A (p.Pro173Thr) c.295C>A (p.Pro99Thr) c.262C>A (p.Pro88Thr) | gnomAD v4 |
2 | g.31531402C>A | CA346598224 | SRD5A2 | c.516G>T (p.Lys172Asn) c.294G>T (p.Lys98Asn) c.261G>T (p.Lys87Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531402C= | CA1242198318 | SRD5A2 | c.516G= (p.Lys172=) c.294G= (p.Lys98=) c.261G= (p.Lys87=) | |
2 | g.31531402C>G | CA346598225 | SRD5A2 | c.516G>C (p.Lys172Asn) c.294G>C (p.Lys98Asn) c.261G>C (p.Lys87Asn) | |
2 | g.31531402C>T | CA425567559 | SRD5A2 | c.516G>A (p.Lys172=) c.294G>A (p.Lys98=) c.261G>A (p.Lys87=) | |
2 | g.31531403T>A | CA346598226 | SRD5A2 | c.515A>T (p.Lys172Met) c.293A>T (p.Lys98Met) c.260A>T (p.Lys87Met) | |
2 | g.31531403T>C | CA346598227 | SRD5A2 | c.515A>G (p.Lys172Arg) c.293A>G (p.Lys98Arg) c.260A>G (p.Lys87Arg) | gnomAD v4 |
2 | g.31531403T>G | CA346598228 | SRD5A2 | c.515A>C (p.Lys172Thr) c.293A>C (p.Lys98Thr) c.260A>C (p.Lys87Thr) | |
2 | g.31531404T>A | CA346598229 | SRD5A2 | c.514A>T (p.Lys172Ter) c.292A>T (p.Lys98Ter) c.259A>T (p.Lys87Ter) | dbSNP gnomAD v4 |
2 | g.31531404T>C | CA346598230 | SRD5A2 | c.514A>G (p.Lys172Glu) c.292A>G (p.Lys98Glu) c.259A>G (p.Lys87Glu) | gnomAD v4 |
2 | g.31531404T>G | CA346598231 | SRD5A2 | c.514A>C (p.Lys172Gln) c.292A>C (p.Lys98Gln) c.259A>C (p.Lys87Gln) | |
2 | g.31531404T= | CA1242198319 | SRD5A2 | c.514A= (p.Lys172=) c.292A= (p.Lys98=) c.259A= (p.Lys87=) | |
2 | g.31531405C>A | CA346598232 | SRD5A2 | c.513G>T (p.Arg171Ser) c.291G>T (p.Arg97Ser) c.258G>T (p.Arg86Ser) | dbSNP gnomAD v4 |
2 | g.31531405C= | CA1242198320 | SRD5A2 | c.513G= (p.Arg171=) c.291G= (p.Arg97=) c.258G= (p.Arg86=) | |
2 | g.31531405C>G | CA1599917 | SRD5A2 | c.513G>C (p.Arg171Ser) c.291G>C (p.Arg97Ser) c.258G>C (p.Arg86Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531405C>T | CA425567563 | SRD5A2 | c.513G>A (p.Arg171=) c.291G>A (p.Arg97=) c.258G>A (p.Arg86=) | gnomAD v4 |
2 | g.31531406C>A | CA346598233 | SRD5A2 | c.512G>T (p.Arg171Met) c.290G>T (p.Arg97Met) c.257G>T (p.Arg86Met) | gnomAD v4 |
2 | g.31531406C>G | CA346598234 | SRD5A2 | c.512G>C (p.Arg171Thr) c.290G>C (p.Arg97Thr) c.257G>C (p.Arg86Thr) | |
2 | g.31531406C>T | CA346598235 | SRD5A2 | c.512G>A (p.Arg171Lys) c.290G>A (p.Arg97Lys) c.257G>A (p.Arg86Lys) | |
2 | g.31531407T>A | CA346598236 | SRD5A2 | c.511A>T (p.Arg171Trp) c.289A>T (p.Arg97Trp) c.256A>T (p.Arg86Trp) | |
2 | g.31531407T>C | CA346598237 | SRD5A2 | c.511A>G (p.Arg171Gly) c.289A>G (p.Arg97Gly) c.256A>G (p.Arg86Gly) | gnomAD v4 |
2 | g.31531407T>G | CA425567564 | SRD5A2 | c.511A>C (p.Arg171=) c.289A>C (p.Arg97=) c.256A>C (p.Arg86=) | |
2 | g.31531408G>A | CA1599918 | SRD5A2 | c.510C>T (p.Leu170=) c.288C>T (p.Leu96=) c.255C>T (p.Leu85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531408G>C | CA425567565 | SRD5A2 | c.510C>G (p.Leu170=) c.288C>G (p.Leu96=) c.255C>G (p.Leu85=) | |
2 | g.31531408G= | CA1242198321 | SRD5A2 | c.510C= (p.Leu170=) c.288C= (p.Leu96=) c.255C= (p.Leu85=) | |
2 | g.31531408G>T | CA425567566 | SRD5A2 | c.510C>A (p.Leu170=) c.288C>A (p.Leu96=) c.255C>A (p.Leu85=) | gnomAD v4 |
2 | g.31531409A>C | CA346598240 | SRD5A2 | c.509T>G (p.Leu170Arg) c.287T>G (p.Leu96Arg) c.254T>G (p.Leu85Arg) | |
2 | g.31531409A>G | CA346598238 | SRD5A2 | c.509T>C (p.Leu170Pro) c.287T>C (p.Leu96Pro) c.254T>C (p.Leu85Pro) | |
2 | g.31531409A>T | CA346598239 | SRD5A2 | c.509T>A (p.Leu170His) c.287T>A (p.Leu96His) c.254T>A (p.Leu85His) | |
2 | g.31531410G>A | CA346598241 | SRD5A2 | c.508C>T (p.Leu170Phe) c.286C>T (p.Leu96Phe) c.253C>T (p.Leu85Phe) | |
2 | g.31531410G>C | CA346598242 | SRD5A2 | c.508C>G (p.Leu170Val) c.286C>G (p.Leu96Val) c.253C>G (p.Leu85Val) | |
2 | g.31531410G>T | CA346598243 | SRD5A2 | c.508C>A (p.Leu170Ile) c.286C>A (p.Leu96Ile) c.253C>A (p.Leu85Ile) | |
2 | g.31531411C>A | CA346598244 | SRD5A2 | c.507G>T (p.Gln169His) c.285G>T (p.Gln95His) c.252G>T (p.Gln84His) | gnomAD v4 |
2 | g.31531411C>G | CA346598245 | SRD5A2 | c.507G>C (p.Gln169His) c.285G>C (p.Gln95His) c.252G>C (p.Gln84His) | |
2 | g.31531411C>T | CA425567567 | SRD5A2 | c.507G>A (p.Gln169=) c.285G>A (p.Gln95=) c.252G>A (p.Gln84=) | gnomAD v4 |
2 | g.31531412T>A | CA346598246 | SRD5A2 | c.506A>T (p.Gln169Leu) c.284A>T (p.Gln95Leu) c.251A>T (p.Gln84Leu) | |
2 | g.31531412T>C | CA346598247 | SRD5A2 | c.506A>G (p.Gln169Arg) c.284A>G (p.Gln95Arg) c.251A>G (p.Gln84Arg) | |
2 | g.31531412T>G | CA346598248 | SRD5A2 | c.506A>C (p.Gln169Pro) c.284A>C (p.Gln95Pro) c.251A>C (p.Gln84Pro) | |
2 | g.31531413G>A | CA346598249 | SRD5A2 | c.505C>T (p.Gln169Ter) c.283C>T (p.Gln95Ter) c.250C>T (p.Gln84Ter) | |
2 | g.31531413G>C | CA346598250 | SRD5A2 | c.505C>G (p.Gln169Glu) c.283C>G (p.Gln95Glu) c.250C>G (p.Gln84Glu) | |
2 | g.31531413G>T | CA346598251 | SRD5A2 | c.505C>A (p.Gln169Lys) c.283C>A (p.Gln95Lys) c.250C>A (p.Gln84Lys) | gnomAD v4 |
2 | g.31531414G>A | CA425567572 | SRD5A2 | c.504C>T (p.Arg168=) c.282C>T (p.Arg94=) c.249C>T (p.Arg83=) | ClinVar dbSNP gnomAD v4 |
2 | g.31531414G>C | CA425567573 | SRD5A2 | c.504C>G (p.Arg168=) c.282C>G (p.Arg94=) c.249C>G (p.Arg83=) | |
2 | g.31531414G= | CA1242198322 | SRD5A2 | c.504C= (p.Arg168=) c.282C= (p.Arg94=) c.249C= (p.Arg83=) | |
2 | g.31531414G>T | CA425567574 | SRD5A2 | c.504C>A (p.Arg168=) c.282C>A (p.Arg94=) c.249C>A (p.Arg83=) | gnomAD v4 |
2 | g.31531415C>A | CA1599920 | SRD5A2 | c.503G>T (p.Arg168Leu) c.281G>T (p.Arg94Leu) c.248G>T (p.Arg83Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531415C= | CA1242198323 | SRD5A2 | c.503G= (p.Arg168=) c.281G= (p.Arg94=) c.248G= (p.Arg83=) | |
2 | g.31531415C>G | CA346598252 | SRD5A2 | c.503G>C (p.Arg168Pro) c.281G>C (p.Arg94Pro) c.248G>C (p.Arg83Pro) | gnomAD v4 |
2 | g.31531415C>T | CA1599919 | SRD5A2 | c.503G>A (p.Arg168His) c.281G>A (p.Arg94His) c.248G>A (p.Arg83His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31531416G>A | CA1599921 | SRD5A2 | c.502C>T (p.Arg168Cys) c.280C>T (p.Arg94Cys) c.247C>T (p.Arg83Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531416G>C | CA346598253 | SRD5A2 | c.502C>G (p.Arg168Gly) c.280C>G (p.Arg94Gly) c.247C>G (p.Arg83Gly) | |
2 | g.31531416G= | CA1242198324 | SRD5A2 | c.502C= (p.Arg168=) c.280C= (p.Arg94=) c.247C= (p.Arg83=) | |
2 | g.31531416G>T | CA346598254 | SRD5A2 | c.502C>A (p.Arg168Ser) c.280C>A (p.Arg94Ser) c.247C>A (p.Arg83Ser) | gnomAD v4 |
2 | g.31531417C>A | CA346598255 | SRD5A2 | c.501G>T (p.Leu167Phe) c.279G>T (p.Leu93Phe) c.246G>T (p.Leu82Phe) | gnomAD v4 |
2 | g.31531417C>G | CA346598256 | SRD5A2 | c.501G>C (p.Leu167Phe) c.279G>C (p.Leu93Phe) c.246G>C (p.Leu82Phe) | |
2 | g.31531417C>T | CA425567582 | SRD5A2 | c.501G>A (p.Leu167=) c.279G>A (p.Leu93=) c.246G>A (p.Leu82=) | |
2 | g.31531418A= | CA1242198325 | SRD5A2 | c.500T= (p.Leu167=) c.278T= (p.Leu93=) c.245T= (p.Leu82=) | |
2 | g.31531418A>C | CA346598257 | SRD5A2 | c.500T>G (p.Leu167Trp) c.278T>G (p.Leu93Trp) c.245T>G (p.Leu82Trp) | |
2 | g.31531418A>G | CA1599922 | SRD5A2 | c.500T>C (p.Leu167Ser) c.278T>C (p.Leu93Ser) c.245T>C (p.Leu82Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531418A>T | CA346598258 | SRD5A2 | c.500T>A (p.Leu167Ter) c.278T>A (p.Leu93Ter) c.245T>A (p.Leu82Ter) | gnomAD v4 |
2 | g.31531419A>C | CA346598259 | SRD5A2 | c.499T>G (p.Leu167Val) c.277T>G (p.Leu93Val) c.244T>G (p.Leu82Val) | |
2 | g.31531419A>G | CA425567586 | SRD5A2 | c.499T>C (p.Leu167=) c.277T>C (p.Leu93=) c.244T>C (p.Leu82=) | |
2 | g.31531419A>T | CA346598260 | SRD5A2 | c.499T>A (p.Leu167Met) c.277T>A (p.Leu93Met) c.244T>A (p.Leu82Met) | gnomAD v4 |
2 | g.31531424_31531425del | CA2698935712 | SRD5A2 | c.498_499del (p.Leu167AlafsTer?) c.276_277del (p.Leu93AlafsTer?) c.243_244del (p.Leu82AlafsTer?) | dbSNP |
2 | g.31531420T>A | CA425567591 | SRD5A2 | c.498A>T (p.Ile166=) c.276A>T (p.Ile92=) c.243A>T (p.Ile81=) | |
2 | g.31531420T>C | CA346598261 | SRD5A2 | c.498A>G (p.Ile166Met) c.276A>G (p.Ile92Met) c.243A>G (p.Ile81Met) | gnomAD v4 COSMIC COSMIC |
2 | g.31531420T>G | CA425567589 | SRD5A2 | c.498A>C (p.Ile166=) c.276A>C (p.Ile92=) c.243A>C (p.Ile81=) | |
2 | g.31531421A= | CA1242198326 | SRD5A2 | c.497T= (p.Ile166=) c.275T= (p.Ile92=) c.242T= (p.Ile81=) | |
2 | g.31531421A>C | CA346598263 | SRD5A2 | c.497T>G (p.Ile166Arg) c.275T>G (p.Ile92Arg) c.242T>G (p.Ile81Arg) | |
2 | g.31531421A>G | CA1599923 | SRD5A2 | c.497T>C (p.Ile166Thr) c.275T>C (p.Ile92Thr) c.242T>C (p.Ile81Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531421A>T | CA346598262 | SRD5A2 | c.497T>A (p.Ile166Lys) c.275T>A (p.Ile92Lys) c.242T>A (p.Ile81Lys) | |
2 | g.31531422T>A | CA346598264 | SRD5A2 | c.496A>T (p.Ile166Leu) c.274A>T (p.Ile92Leu) c.241A>T (p.Ile81Leu) | |
2 | g.31531422T>C | CA346598265 | SRD5A2 | c.496A>G (p.Ile166Val) c.274A>G (p.Ile92Val) c.241A>G (p.Ile81Val) | dbSNP gnomAD v4 |
2 | g.31531422T>G | CA346598266 | SRD5A2 | c.496A>C (p.Ile166Leu) c.274A>C (p.Ile92Leu) c.241A>C (p.Ile81Leu) | |
2 | g.31531422T= | CA1242198327 | SRD5A2 | c.496A= (p.Ile166=) c.274A= (p.Ile92=) c.241A= (p.Ile81=) | |
2 | g.31531422_31531423insTC | CA531712579 | SRD5A2 | c.495_496insGA (p.Ile166GlufsTer?) c.273_274insGA (p.Ile92GlufsTer?) c.240_241insGA (p.Ile81GlufsTer?) | dbSNP gnomAD v2 |
2 | g.31531423A= | CA1242198328 | SRD5A2 | c.495T= (p.Tyr165=) c.273T= (p.Tyr91=) c.240T= (p.Tyr80=) | |
2 | g.31531423A>C | CA346598267 | SRD5A2 | c.495T>G (p.Tyr165Ter) c.273T>G (p.Tyr91Ter) c.240T>G (p.Tyr80Ter) | |
2 | g.31531423A>G | CA1599924 | SRD5A2 | c.495T>C (p.Tyr165=) c.273T>C (p.Tyr91=) c.240T>C (p.Tyr80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531423A>T | CA346598268 | SRD5A2 | c.495T>A (p.Tyr165Ter) c.273T>A (p.Tyr91Ter) c.240T>A (p.Tyr80Ter) | |
2 | g.31531424T>A | CA346598271 | SRD5A2 | c.494A>T (p.Tyr165Phe) c.272A>T (p.Tyr91Phe) c.239A>T (p.Tyr80Phe) | |
2 | g.31531424T>C | CA346598269 | SRD5A2 | c.494A>G (p.Tyr165Cys) c.272A>G (p.Tyr91Cys) c.239A>G (p.Tyr80Cys) | gnomAD v4 |
2 | g.31531424T>G | CA346598270 | SRD5A2 | c.494A>C (p.Tyr165Ser) c.272A>C (p.Tyr91Ser) c.239A>C (p.Tyr80Ser) | |
2 | g.31531425del | CA2658498697 | SRD5A2 | c.493del (p.Tyr165IlefsTer?) c.271del (p.Tyr91IlefsTer?) c.238del (p.Tyr80IlefsTer?) | gnomAD v4 |
2 | g.31531425A= | CA1242198329 | SRD5A2 | c.493T= (p.Tyr165=) c.271T= (p.Tyr91=) c.238T= (p.Tyr80=) | |
2 | g.31531425A>C | CA346598272 | SRD5A2 | c.493T>G (p.Tyr165Asp) c.271T>G (p.Tyr91Asp) c.238T>G (p.Tyr80Asp) | |
2 | g.31531425A>G | CA346598273 | SRD5A2 | c.493T>C (p.Tyr165His) c.271T>C (p.Tyr91His) c.238T>C (p.Tyr80His) | |
2 | g.31531425A>T | CA346598274 | SRD5A2 | c.493T>A (p.Tyr165Asn) c.271T>A (p.Tyr91Asn) c.238T>A (p.Tyr80Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531425_31531426insTC | CA531712583 | SRD5A2 | c.492_493insGA (p.Tyr165AspfsTer?) c.270_271insGA (p.Tyr91AspfsTer?) c.237_238insGA (p.Tyr80AspfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531426G>A | CA425567603 | SRD5A2 | c.492C>T (p.Asp164=) c.270C>T (p.Asp90=) c.237C>T (p.Asp79=) | |
2 | g.31531426G>C | CA346598275 | SRD5A2 | c.492C>G (p.Asp164Glu) c.270C>G (p.Asp90Glu) c.237C>G (p.Asp79Glu) | gnomAD v4 |
2 | g.31531426G>T | CA346598276 | SRD5A2 | c.492C>A (p.Asp164Glu) c.270C>A (p.Asp90Glu) c.237C>A (p.Asp79Glu) | |
2 | g.31531427T>A | CA346598277 | SRD5A2 | c.491A>T (p.Asp164Val) c.269A>T (p.Asp90Val) c.236A>T (p.Asp79Val) | gnomAD v4 |
2 | g.31531427T>C | CA346598279 | SRD5A2 | c.491A>G (p.Asp164Gly) c.269A>G (p.Asp90Gly) c.236A>G (p.Asp79Gly) | |
2 | g.31531427T>G | CA346598278 | SRD5A2 | c.491A>C (p.Asp164Ala) c.269A>C (p.Asp90Ala) c.236A>C (p.Asp79Ala) | |
2 | g.31531428C>A | CA346598280 | SRD5A2 | c.490G>T (p.Asp164Tyr) c.268G>T (p.Asp90Tyr) c.235G>T (p.Asp79Tyr) | gnomAD v4 |
2 | g.31531428C>G | CA346598281 | SRD5A2 | c.490G>C (p.Asp164His) c.268G>C (p.Asp90His) c.235G>C (p.Asp79His) | |
2 | g.31531428C>T | CA346598282 | SRD5A2 | c.490G>A (p.Asp164Asn) c.268G>A (p.Asp90Asn) c.235G>A (p.Asp79Asn) | gnomAD v4 |
2 | g.31531429A>C | CA346598283 | SRD5A2 | c.489T>G (p.Ser163Arg) c.267T>G (p.Ser89Arg) c.234T>G (p.Ser78Arg) | |
2 | g.31531429A>G | CA425567610 | SRD5A2 | c.489T>C (p.Ser163=) c.267T>C (p.Ser89=) c.234T>C (p.Ser78=) | |
2 | g.31531429A>T | CA346598284 | SRD5A2 | c.489T>A (p.Ser163Arg) c.267T>A (p.Ser89Arg) c.234T>A (p.Ser78Arg) | |
2 | g.31531430C>A | CA346598285 | SRD5A2 | c.488G>T (p.Ser163Ile) c.266G>T (p.Ser89Ile) c.233G>T (p.Ser78Ile) | |
2 | g.31531430C>G | CA346598286 | SRD5A2 | c.488G>C (p.Ser163Thr) c.266G>C (p.Ser89Thr) c.233G>C (p.Ser78Thr) | |
2 | g.31531430C>T | CA346598287 | SRD5A2 | c.488G>A (p.Ser163Asn) c.266G>A (p.Ser89Asn) c.233G>A (p.Ser78Asn) | |
2 | g.31531431T>A | CA346598288 | SRD5A2 | c.487A>T (p.Ser163Cys) c.265A>T (p.Ser89Cys) c.232A>T (p.Ser78Cys) | gnomAD v4 |
2 | g.31531431T>C | CA346598289 | SRD5A2 | c.487A>G (p.Ser163Gly) c.265A>G (p.Ser89Gly) c.232A>G (p.Ser78Gly) | gnomAD v4 |
2 | g.31531431T>G | CA346598290 | SRD5A2 | c.487A>C (p.Ser163Arg) c.265A>C (p.Ser89Arg) c.232A>C (p.Ser78Arg) | |
2 | g.31531432A= | CA1242198330 | SRD5A2 | c.486T= (p.His162=) c.264T= (p.His88=) c.231T= (p.His77=) | |
2 | g.31531432A>C | CA346598291 | SRD5A2 | c.486T>G (p.His162Gln) c.264T>G (p.His88Gln) c.231T>G (p.His77Gln) | |
2 | g.31531432A>G | CA1599925 | SRD5A2 | c.486T>C (p.His162=) c.264T>C (p.His88=) c.231T>C (p.His77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531432A>T | CA346598292 | SRD5A2 | c.486T>A (p.His162Gln) c.264T>A (p.His88Gln) c.231T>A (p.His77Gln) | |
2 | g.31531433T>A | CA346598293 | SRD5A2 | c.485A>T (p.His162Leu) c.263A>T (p.His88Leu) c.230A>T (p.His77Leu) | |
2 | g.31531433T>C | CA346598295 | SRD5A2 | c.485A>G (p.His162Arg) c.263A>G (p.His88Arg) c.230A>G (p.His77Arg) | gnomAD v4 |
2 | g.31531433T>G | CA346598294 | SRD5A2 | c.485A>C (p.His162Pro) c.263A>C (p.His88Pro) c.230A>C (p.His77Pro) | ClinVar dbSNP |
2 | g.31531433T= | CA1242198331 | SRD5A2 | c.485A= (p.His162=) c.263A= (p.His88=) c.230A= (p.His77=) | |
2 | g.31531434G>A | CA346598296 | SRD5A2 | c.484C>T (p.His162Tyr) c.262C>T (p.His88Tyr) c.229C>T (p.His77Tyr) | |
2 | g.31531434G>C | CA346598298 | SRD5A2 | c.484C>G (p.His162Asp) c.262C>G (p.His88Asp) c.229C>G (p.His77Asp) | |
2 | g.31531434G>T | CA346598297 | SRD5A2 | c.484C>A (p.His162Asn) c.262C>A (p.His88Asn) c.229C>A (p.His77Asn) | gnomAD v4 |