Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31533585G>A | CA2576929419 | SRD5A2 | c.445+18C>T (n.445+18C>T) c.223+18C>T (n.223+18C>T) c.190+18C>T (n.190+18C>T) | |
2 | g.31533585G>C | CA2658499089 | SRD5A2 | c.445+18C>G (n.445+18C>G) c.223+18C>G (n.223+18C>G) c.190+18C>G (n.190+18C>G) | gnomAD v4 |
2 | g.31533585G= | CA1242199297 | SRD5A2 | c.445+18C= (n.445+18C=) c.223+18C= (n.223+18C=) c.190+18C= (n.190+18C=) | |
2 | g.31533585G>T | CA45136775 | SRD5A2 | c.445+18C>A (n.445+18C>A) c.223+18C>A (n.223+18C>A) c.190+18C>A (n.190+18C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533586T>A | CA2658499091 | SRD5A2 | c.445+17A>T (n.445+17A>T) c.223+17A>T (n.223+17A>T) c.190+17A>T (n.190+17A>T) | gnomAD v4 |
2 | g.31533586T>C | CA531769392 | SRD5A2 | c.445+17A>G (n.445+17A>G) c.223+17A>G (n.223+17A>G) c.190+17A>G (n.190+17A>G) | dbSNP gnomAD v2 |
2 | g.31533586T>G | CA1242199299 | SRD5A2 | c.445+17A>C (n.445+17A>C) c.223+17A>C (n.223+17A>C) c.190+17A>C (n.190+17A>C) | dbSNP gnomAD v4 |
2 | g.31533586T= | CA1242199298 | SRD5A2 | c.445+17A= (n.445+17A=) c.223+17A= (n.223+17A=) c.190+17A= (n.190+17A=) | |
2 | g.31533587G>A | CA2658499095 | SRD5A2 | c.445+16C>T (n.445+16C>T) c.223+16C>T (n.223+16C>T) c.190+16C>T (n.190+16C>T) | gnomAD v4 |
2 | g.31533589del | CA2697547974 | SRD5A2 | c.445+16del (n.445+16del) c.223+16del (n.223+16del) c.190+16del (n.190+16del) | ClinVar |
2 | g.31533588G>A | CA1028957132 | SRD5A2 | c.445+15C>T (n.445+15C>T) c.223+15C>T (n.223+15C>T) c.190+15C>T (n.190+15C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533588G>C | CA1242199301 | SRD5A2 | c.445+15C>G (n.445+15C>G) c.223+15C>G (n.223+15C>G) c.190+15C>G (n.190+15C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.31533588G= | CA1242199300 | SRD5A2 | c.445+15C= (n.445+15C=) c.223+15C= (n.223+15C=) c.190+15C= (n.190+15C=) | |
2 | g.31533588G>T | CA2658499101 | SRD5A2 | c.445+15C>A (n.445+15C>A) c.223+15C>A (n.223+15C>A) c.190+15C>A (n.190+15C>A) | gnomAD v4 |
2 | g.31533589G>A | CA2658499103 | SRD5A2 | c.445+14C>T (n.445+14C>T) c.223+14C>T (n.223+14C>T) c.190+14C>T (n.190+14C>T) | gnomAD v4 |
2 | g.31533590C= | CA1242199302 | SRD5A2 | c.445+13G= (n.445+13G=) c.223+13G= (n.223+13G=) c.190+13G= (n.190+13G=) | |
2 | g.31533590C>G | CA45136776 | SRD5A2 | c.445+13G>C (n.445+13G>C) c.223+13G>C (n.223+13G>C) c.190+13G>C (n.190+13G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533590C>T | CA2658499108 | SRD5A2 | c.445+13G>A (n.445+13G>A) c.223+13G>A (n.223+13G>A) c.190+13G>A (n.190+13G>A) | gnomAD v4 |
2 | g.31533591A= | CA1242199303 | SRD5A2 | c.445+12T= (n.445+12T=) c.223+12T= (n.223+12T=) c.190+12T= (n.190+12T=) | |
2 | g.31533591A>G | CA531769393 | SRD5A2 | c.445+12T>C (n.445+12T>C) c.223+12T>C (n.223+12T>C) c.190+12T>C (n.190+12T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533592G>A | CA1599940 | SRD5A2 | c.445+11C>T (n.445+11C>T) c.223+11C>T (n.223+11C>T) c.190+11C>T (n.190+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533592G= | CA1242199304 | SRD5A2 | c.445+11C= (n.445+11C=) c.223+11C= (n.223+11C=) c.190+11C= (n.190+11C=) | |
2 | g.31533592G>T | CA2658499113 | SRD5A2 | c.445+11C>A (n.445+11C>A) c.223+11C>A (n.223+11C>A) c.190+11C>A (n.190+11C>A) | gnomAD v4 |
2 | g.31533595T>A | CA531769394 | SRD5A2 | c.445+8A>T (n.445+8A>T) c.223+8A>T (n.223+8A>T) c.190+8A>T (n.190+8A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533595T>G | CA224888 | SRD5A2 | c.445+8A>C (n.445+8A>C) c.223+8A>C (n.223+8A>C) c.190+8A>C (n.190+8A>C) | ClinVar dbSNP |
2 | g.31533595T= | CA1242199305 | SRD5A2 | c.445+8A= (n.445+8A=) c.223+8A= (n.223+8A=) c.190+8A= (n.190+8A=) | |
2 | g.31533596C>T | CA2658499122 | SRD5A2 | c.445+7G>A (n.445+7G>A) c.223+7G>A (n.223+7G>A) c.190+7G>A (n.190+7G>A) | gnomAD v4 |
2 | g.31533598C>T | CA2658499124 | SRD5A2 | c.445+5G>A (n.445+5G>A) c.223+5G>A (n.223+5G>A) c.190+5G>A (n.190+5G>A) | gnomAD v4 |
2 | g.31533600T>C | CA2595152872 | SRD5A2 | c.445+3A>G (n.445+3A>G) c.223+3A>G (n.223+3A>G) c.190+3A>G (n.190+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533601A= | CA1242199306 | SRD5A2 | c.445+2T= (n.445+2T=) c.223+2T= (n.223+2T=) c.190+2T= (n.190+2T=) | |
2 | g.31533601A>C | CA346598394 | SRD5A2 | c.445+2T>G (n.445+2T>G) c.223+2T>G (n.223+2T>G) c.190+2T>G (n.190+2T>G) | |
2 | g.31533601A>G | CA346598395 | SRD5A2 | c.445+2T>C (n.445+2T>C) c.223+2T>C (n.223+2T>C) c.190+2T>C (n.190+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533601A>T | CA346598393 | SRD5A2 | c.445+2T>A (n.445+2T>A) c.223+2T>A (n.223+2T>A) c.190+2T>A (n.190+2T>A) | |
2 | g.31533602C>A | CA346598396 | SRD5A2 | c.445+1G>T (n.445+1G>T) c.223+1G>T (n.223+1G>T) c.190+1G>T (n.190+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533602C= | CA1242199307 | SRD5A2 | c.445+1G= (n.445+1G=) c.223+1G= (n.223+1G=) c.190+1G= (n.190+1G=) | |
2 | g.31533602C>G | CA346598397 | SRD5A2 | c.445+1G>C (n.445+1G>C) c.223+1G>C (n.223+1G>C) c.190+1G>C (n.190+1G>C) | |
2 | g.31533602C>T | CA346598398 | SRD5A2 | c.445+1G>A (n.445+1G>A) c.223+1G>A (n.223+1G>A) c.190+1G>A (n.190+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533603C>A | CA346598399 | SRD5A2 | c.445G>T (p.Gly149Cys) c.445G>T (p.Ala149Ser) c.223G>T (p.Gly75Cys) c.190G>T (p.Gly64Cys) | |
2 | g.31533603C>G | CA346598400 | SRD5A2 | c.445G>C (p.Gly149Arg) c.445G>C (p.Ala149Pro) c.223G>C (p.Gly75Arg) c.190G>C (p.Gly64Arg) | |
2 | g.31533603C>T | CA346598401 | SRD5A2 | c.445G>A (p.Gly149Ser) c.445G>A (p.Ala149Thr) c.223G>A (p.Gly75Ser) c.190G>A (p.Gly64Ser) | |
2 | g.31533604C>A | CA346598402 | SRD5A2 | c.444G>T (p.Leu148Phe) c.222G>T (p.Leu74Phe) c.189G>T (p.Leu63Phe) | |
2 | g.31533604C>G | CA346598403 | SRD5A2 | c.444G>C (p.Leu148Phe) c.222G>C (p.Leu74Phe) c.189G>C (p.Leu63Phe) | |
2 | g.31533604C>T | CA425568180 | SRD5A2 | c.444G>A (p.Leu148=) c.222G>A (p.Leu74=) c.189G>A (p.Leu63=) | |
2 | g.31533605A>C | CA346598404 | SRD5A2 | c.443T>G (p.Leu148Trp) c.221T>G (p.Leu74Trp) c.188T>G (p.Leu63Trp) | |
2 | g.31533605A>G | CA346598405 | SRD5A2 | c.443T>C (p.Leu148Ser) c.221T>C (p.Leu74Ser) c.188T>C (p.Leu63Ser) | |
2 | g.31533605A>T | CA346598406 | SRD5A2 | c.443T>A (p.Leu148Ter) c.221T>A (p.Leu74Ter) c.188T>A (p.Leu63Ter) | |
2 | g.31533606A= | CA1242199308 | SRD5A2 | c.442T= (p.Leu148=) c.220T= (p.Leu74=) c.187T= (p.Leu63=) | |
2 | g.31533606A>C | CA346598407 | SRD5A2 | c.442T>G (p.Leu148Val) c.220T>G (p.Leu74Val) c.187T>G (p.Leu63Val) | |
2 | g.31533606A>G | CA425568184 | SRD5A2 | c.442T>C (p.Leu148=) c.220T>C (p.Leu74=) c.187T>C (p.Leu63=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533606A>T | CA346598408 | SRD5A2 | c.442T>A (p.Leu148Met) c.220T>A (p.Leu74Met) c.187T>A (p.Leu63Met) | |
2 | g.31533607G>A | CA1599941 | SRD5A2 | c.441C>T (p.Ser147=) c.219C>T (p.Ser73=) c.186C>T (p.Ser62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31533607G>C | CA346598410 | SRD5A2 | c.441C>G (p.Ser147Arg) c.219C>G (p.Ser73Arg) c.186C>G (p.Ser62Arg) | |
2 | g.31533607G= | CA1242199309 | SRD5A2 | c.441C= (p.Ser147=) c.219C= (p.Ser73=) c.186C= (p.Ser62=) | |
2 | g.31533607G>T | CA346598409 | SRD5A2 | c.441C>A (p.Ser147Arg) c.219C>A (p.Ser73Arg) c.186C>A (p.Ser62Arg) | |
2 | g.31533608C>A | CA346598411 | SRD5A2 | c.440G>T (p.Ser147Ile) c.218G>T (p.Ser73Ile) c.185G>T (p.Ser62Ile) | dbSNP gnomAD v4 |
2 | g.31533608C= | CA1242199310 | SRD5A2 | c.440G= (p.Ser147=) c.218G= (p.Ser73=) c.185G= (p.Ser62=) | |
2 | g.31533608C>G | CA346598413 | SRD5A2 | c.440G>C (p.Ser147Thr) c.218G>C (p.Ser73Thr) c.185G>C (p.Ser62Thr) | |
2 | g.31533608C>T | CA346598412 | SRD5A2 | c.440G>A (p.Ser147Asn) c.218G>A (p.Ser73Asn) c.185G>A (p.Ser62Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533609T>A | CA346598414 | SRD5A2 | c.439A>T (p.Ser147Cys) c.217A>T (p.Ser73Cys) c.184A>T (p.Ser62Cys) | |
2 | g.31533609T>C | CA346598416 | SRD5A2 | c.439A>G (p.Ser147Gly) c.217A>G (p.Ser73Gly) c.184A>G (p.Ser62Gly) | |
2 | g.31533609T>G | CA346598415 | SRD5A2 | c.439A>C (p.Ser147Arg) c.217A>C (p.Ser73Arg) c.184A>C (p.Ser62Arg) | |
2 | g.31533610A>C | CA346598417 | SRD5A2 | c.438T>G (p.Phe146Leu) c.216T>G (p.Phe72Leu) c.183T>G (p.Phe61Leu) | |
2 | g.31533610A>G | CA425568193 | SRD5A2 | c.438T>C (p.Phe146=) c.216T>C (p.Phe72=) c.183T>C (p.Phe61=) | |
2 | g.31533610A>T | CA346598418 | SRD5A2 | c.438T>A (p.Phe146Leu) c.216T>A (p.Phe72Leu) c.183T>A (p.Phe61Leu) | |
2 | g.31533611A>C | CA346598419 | SRD5A2 | c.437T>G (p.Phe146Cys) c.215T>G (p.Phe72Cys) c.182T>G (p.Phe61Cys) | |
2 | g.31533611A>G | CA346598420 | SRD5A2 | c.437T>C (p.Phe146Ser) c.215T>C (p.Phe72Ser) c.182T>C (p.Phe61Ser) | |
2 | g.31533611A>T | CA346598421 | SRD5A2 | c.437T>A (p.Phe146Tyr) c.215T>A (p.Phe72Tyr) c.182T>A (p.Phe61Tyr) | |
2 | g.31533612A>C | CA346598422 | SRD5A2 | c.436T>G (p.Phe146Val) c.214T>G (p.Phe72Val) c.181T>G (p.Phe61Val) | |
2 | g.31533612A>G | CA346598423 | SRD5A2 | c.436T>C (p.Phe146Leu) c.214T>C (p.Phe72Leu) c.181T>C (p.Phe61Leu) | |
2 | g.31533612A>T | CA346598424 | SRD5A2 | c.436T>A (p.Phe146Ile) c.214T>A (p.Phe72Ile) c.181T>A (p.Phe61Ile) | |
2 | g.31533613C>A | CA425568200 | SRD5A2 | c.435G>T (p.Arg145=) c.213G>T (p.Arg71=) c.180G>T (p.Arg60=) | |
2 | g.31533613C>G | CA425568198 | SRD5A2 | c.435G>C (p.Arg145=) c.213G>C (p.Arg71=) c.180G>C (p.Arg60=) | |
2 | g.31533613C>T | CA425568199 | SRD5A2 | c.435G>A (p.Arg145=) c.213G>A (p.Arg71=) c.180G>A (p.Arg60=) | gnomAD v4 |
2 | g.31533614C>A | CA346598426 | SRD5A2 | c.434G>T (p.Arg145Leu) c.212G>T (p.Arg71Leu) c.179G>T (p.Arg60Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533614C= | CA1242199311 | SRD5A2 | c.434G= (p.Arg145=) c.212G= (p.Arg71=) c.179G= (p.Arg60=) | |
2 | g.31533614C>G | CA346598425 | SRD5A2 | c.434G>C (p.Arg145Pro) c.212G>C (p.Arg71Pro) c.179G>C (p.Arg60Pro) | |
2 | g.31533614C>T | CA1599942 | SRD5A2 | c.434G>A (p.Arg145Gln) c.212G>A (p.Arg71Gln) c.179G>A (p.Arg60Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533615G>A | CA1599943 | SRD5A2 | c.433C>T (p.Arg145Trp) c.211C>T (p.Arg71Trp) c.178C>T (p.Arg60Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533615G>C | CA346598427 | SRD5A2 | c.433C>G (p.Arg145Gly) c.211C>G (p.Arg71Gly) c.178C>G (p.Arg60Gly) | |
2 | g.31533615G= | CA1242199312 | SRD5A2 | c.433C= (p.Arg145=) c.211C= (p.Arg71=) c.178C= (p.Arg60=) | |
2 | g.31533615G>T | CA425568204 | SRD5A2 | c.433C>A (p.Arg145=) c.211C>A (p.Arg71=) c.178C>A (p.Arg60=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533616T>A | CA425568206 | SRD5A2 | c.432A>T (p.Ile144=) c.210A>T (p.Ile70=) c.177A>T (p.Ile59=) | |
2 | g.31533616T>C | CA346598428 | SRD5A2 | c.432A>G (p.Ile144Met) c.210A>G (p.Ile70Met) c.177A>G (p.Ile59Met) | |
2 | g.31533616T>G | CA425568208 | SRD5A2 | c.432A>C (p.Ile144=) c.210A>C (p.Ile70=) c.177A>C (p.Ile59=) | |
2 | g.31533617A>C | CA346598429 | SRD5A2 | c.431T>G (p.Ile144Arg) c.209T>G (p.Ile70Arg) c.176T>G (p.Ile59Arg) | |
2 | g.31533617A>G | CA346598430 | SRD5A2 | c.431T>C (p.Ile144Thr) c.209T>C (p.Ile70Thr) c.176T>C (p.Ile59Thr) | |
2 | g.31533617A>T | CA346598431 | SRD5A2 | c.431T>A (p.Ile144Lys) c.209T>A (p.Ile70Lys) c.176T>A (p.Ile59Lys) | |
2 | g.31533617dup | CA2576929420 | SRD5A2 | c.431dup (p.Arg145ThrfsTer3) c.209dup (p.Arg71ThrfsTer3) c.176dup (p.Arg60ThrfsTer3) | ClinVar |
2 | g.31533618T>A | CA346598432 | SRD5A2 | c.430A>T (p.Ile144Leu) c.208A>T (p.Ile70Leu) c.175A>T (p.Ile59Leu) | gnomAD v4 |
2 | g.31533618T>C | CA346598434 | SRD5A2 | c.430A>G (p.Ile144Val) c.208A>G (p.Ile70Val) c.175A>G (p.Ile59Val) | gnomAD v4 |
2 | g.31533618T>G | CA346598433 | SRD5A2 | c.430A>C (p.Ile144Leu) c.208A>C (p.Ile70Leu) c.175A>C (p.Ile59Leu) | |
2 | g.31533619G>A | CA425568215 | SRD5A2 | c.429C>T (p.Asp143=) c.207C>T (p.Asp69=) c.174C>T (p.Asp58=) | |
2 | g.31533619G>C | CA346598435 | SRD5A2 | c.429C>G (p.Asp143Glu) c.207C>G (p.Asp69Glu) c.174C>G (p.Asp58Glu) | |
2 | g.31533619G>T | CA346598436 | SRD5A2 | c.429C>A (p.Asp143Glu) c.207C>A (p.Asp69Glu) c.174C>A (p.Asp58Glu) | |
2 | g.31533620T>A | CA1599944 | SRD5A2 | c.428A>T (p.Asp143Val) c.206A>T (p.Asp69Val) c.173A>T (p.Asp58Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533620T>C | CA346598437 | SRD5A2 | c.428A>G (p.Asp143Gly) c.206A>G (p.Asp69Gly) c.173A>G (p.Asp58Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533620T>G | CA346598438 | SRD5A2 | c.428A>C (p.Asp143Ala) c.206A>C (p.Asp69Ala) c.173A>C (p.Asp58Ala) | |
2 | g.31533620T= | CA1242199313 | SRD5A2 | c.428A= (p.Asp143=) c.206A= (p.Asp69=) c.173A= (p.Asp58=) | |
2 | g.31533621C>A | CA346598439 | SRD5A2 | c.427G>T (p.Asp143Tyr) c.205G>T (p.Asp69Tyr) c.172G>T (p.Asp58Tyr) | |
2 | g.31533621C= | CA1242199314 | SRD5A2 | c.427G= (p.Asp143=) c.205G= (p.Asp69=) c.172G= (p.Asp58=) | |
2 | g.31533621C>G | CA346598440 | SRD5A2 | c.427G>C (p.Asp143His) c.205G>C (p.Asp69His) c.172G>C (p.Asp58His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533621C>T | CA346598441 | SRD5A2 | c.427G>A (p.Asp143Asn) c.205G>A (p.Asp69Asn) c.172G>A (p.Asp58Asn) | |
2 | g.31533622T>A | CA425568220 | SRD5A2 | c.426A>T (p.Thr142=) c.204A>T (p.Thr68=) c.171A>T (p.Thr57=) | |
2 | g.31533622T>C | CA425568221 | SRD5A2 | c.426A>G (p.Thr142=) c.204A>G (p.Thr68=) c.171A>G (p.Thr57=) | |
2 | g.31533622T>G | CA425568222 | SRD5A2 | c.426A>C (p.Thr142=) c.204A>C (p.Thr68=) c.171A>C (p.Thr57=) | |
2 | g.31533623G>A | CA1599945 | SRD5A2 | c.425C>T (p.Thr142Ile) c.203C>T (p.Thr68Ile) c.170C>T (p.Thr57Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533623G>C | CA45136777 | SRD5A2 | c.425C>G (p.Thr142Arg) c.203C>G (p.Thr68Arg) c.170C>G (p.Thr57Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533623G= | CA1242199315 | SRD5A2 | c.425C= (p.Thr142=) c.203C= (p.Thr68=) c.170C= (p.Thr57=) | |
2 | g.31533623G>T | CA346598442 | SRD5A2 | c.425C>A (p.Thr142Lys) c.203C>A (p.Thr68Lys) c.170C>A (p.Thr57Lys) | |
2 | g.31533624T>A | CA346598443 | SRD5A2 | c.424A>T (p.Thr142Ser) c.202A>T (p.Thr68Ser) c.169A>T (p.Thr57Ser) | |
2 | g.31533624T>C | CA346598445 | SRD5A2 | c.424A>G (p.Thr142Ala) c.202A>G (p.Thr68Ala) c.169A>G (p.Thr57Ala) | |
2 | g.31533624T>G | CA346598444 | SRD5A2 | c.424A>C (p.Thr142Pro) c.202A>C (p.Thr68Pro) c.169A>C (p.Thr57Pro) | |
2 | g.31533625G>A | CA425568227 | SRD5A2 | c.423C>T (p.Tyr141=) c.201C>T (p.Tyr67=) c.168C>T (p.Tyr56=) | gnomAD v4 |
2 | g.31533625G>C | CA346598446 | SRD5A2 | c.423C>G (p.Tyr141Ter) c.201C>G (p.Tyr67Ter) c.168C>G (p.Tyr56Ter) | |
2 | g.31533625G>T | CA346598447 | SRD5A2 | c.423C>A (p.Tyr141Ter) c.201C>A (p.Tyr67Ter) c.168C>A (p.Tyr56Ter) | gnomAD v4 |
2 | g.31533626T>A | CA346598448 | SRD5A2 | c.422A>T (p.Tyr141Phe) c.200A>T (p.Tyr67Phe) c.167A>T (p.Tyr56Phe) | |
2 | g.31533626T>C | CA346598449 | SRD5A2 | c.422A>G (p.Tyr141Cys) c.200A>G (p.Tyr67Cys) c.167A>G (p.Tyr56Cys) | |
2 | g.31533626T>G | CA346598450 | SRD5A2 | c.422A>C (p.Tyr141Ser) c.200A>C (p.Tyr67Ser) c.167A>C (p.Tyr56Ser) | |
2 | g.31533626_31533627insG | CA2658499157 | SRD5A2 | c.421_422insC (p.Tyr141SerfsTer7) c.199_200insC (p.Tyr67SerfsTer7) c.166_167insC (p.Tyr56SerfsTer7) | gnomAD v4 |
2 | g.31533627A= | CA1242199316 | SRD5A2 | c.421T= (p.Tyr141=) c.199T= (p.Tyr67=) c.166T= (p.Tyr56=) | |
2 | g.31533627A>C | CA346598451 | SRD5A2 | c.421T>G (p.Tyr141Asp) c.199T>G (p.Tyr67Asp) c.166T>G (p.Tyr56Asp) | |
2 | g.31533627A>G | CA346598452 | SRD5A2 | c.421T>C (p.Tyr141His) c.199T>C (p.Tyr67His) c.166T>C (p.Tyr56His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533627A>T | CA346598453 | SRD5A2 | c.421T>A (p.Tyr141Asn) c.199T>A (p.Tyr67Asn) c.166T>A (p.Tyr56Asn) | |
2 | g.31533627_31533629delinsGAAT | CA2586969031 | SRD5A2 | c.419_421delinsATTC (p.Trp140TyrfsTer8) c.197_199delinsATTC (p.Trp66TyrfsTer8) c.164_166delinsATTC (p.Trp55TyrfsTer8) | |
2 | g.31533628C>A | CA1599946 | SRD5A2 | c.420G>T (p.Trp140Cys) c.198G>T (p.Trp66Cys) c.165G>T (p.Trp55Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533628C= | CA1242199317 | SRD5A2 | c.420G= (p.Trp140=) c.198G= (p.Trp66=) c.165G= (p.Trp55=) | |
2 | g.31533628C>G | CA346598454 | SRD5A2 | c.420G>C (p.Trp140Cys) c.198G>C (p.Trp66Cys) c.165G>C (p.Trp55Cys) | |
2 | g.31533628C>T | CA346598455 | SRD5A2 | c.420G>A (p.Trp140Ter) c.198G>A (p.Trp66Ter) c.165G>A (p.Trp55Ter) | dbSNP |
2 | g.31533629C>A | CA346598458 | SRD5A2 | c.419G>T (p.Trp140Leu) c.197G>T (p.Trp66Leu) c.164G>T (p.Trp55Leu) | |
2 | g.31533629C>G | CA346598457 | SRD5A2 | c.419G>C (p.Trp140Ser) c.197G>C (p.Trp66Ser) c.164G>C (p.Trp55Ser) | |
2 | g.31533629C>T | CA346598456 | SRD5A2 | c.419G>A (p.Trp140Ter) c.197G>A (p.Trp66Ter) c.164G>A (p.Trp55Ter) | gnomAD v4 |
2 | g.31533629_31533630delinsCA | CA1242199318 | SRD5A2 | c.418_419delinsTG (p.Trp140=) c.196_197delinsTG (p.Trp66=) c.163_164delinsTG (p.Trp55=) | |
2 | g.31533629_31533630insGAAT | CA2832528868 | SRD5A2 | c.418_419insATTC (p.Trp140TyrfsTer9) c.196_197insATTC (p.Trp66TyrfsTer9) c.163_164insATTC (p.Trp55TyrfsTer9) | |
2 | g.31533630del | CA767761623 | SRD5A2 | c.418del (p.Trp140GlyfsTer20) c.418del (p.Trp140GlyfsTer?) c.196del (p.Trp66GlyfsTer20) c.163del (p.Trp55GlyfsTer20) | ClinVar dbSNP |
2 | g.31533630A>C | CA346598459 | SRD5A2 | c.418T>G (p.Trp140Gly) c.196T>G (p.Trp66Gly) c.163T>G (p.Trp55Gly) | |
2 | g.31533630A>G | CA346598460 | SRD5A2 | c.418T>C (p.Trp140Arg) c.196T>C (p.Trp66Arg) c.163T>C (p.Trp55Arg) | |
2 | g.31533630A>T | CA346598461 | SRD5A2 | c.418T>A (p.Trp140Arg) c.196T>A (p.Trp66Arg) c.163T>A (p.Trp55Arg) | |
2 | g.31533631C>A | CA425568237 | SRD5A2 | c.417G>T (p.Gly139=) c.195G>T (p.Gly65=) c.162G>T (p.Gly54=) | |
2 | g.31533631C>G | CA425568239 | SRD5A2 | c.417G>C (p.Gly139=) c.195G>C (p.Gly65=) c.162G>C (p.Gly54=) | |
2 | g.31533631C>T | CA425568240 | SRD5A2 | c.417G>A (p.Gly139=) c.195G>A (p.Gly65=) c.162G>A (p.Gly54=) | gnomAD v4 |
2 | g.31533632C>A | CA346598462 | SRD5A2 | c.416G>T (p.Gly139Val) c.194G>T (p.Gly65Val) c.161G>T (p.Gly54Val) | |
2 | g.31533632C>G | CA346598463 | SRD5A2 | c.416G>C (p.Gly139Ala) c.194G>C (p.Gly65Ala) c.161G>C (p.Gly54Ala) | |
2 | g.31533632C>T | CA346598464 | SRD5A2 | c.416G>A (p.Gly139Glu) c.194G>A (p.Gly65Glu) c.161G>A (p.Gly54Glu) | |
2 | g.31533633C>A | CA346598465 | SRD5A2 | c.415G>T (p.Gly139Trp) c.193G>T (p.Gly65Trp) c.160G>T (p.Gly54Trp) | gnomAD v4 |
2 | g.31533633C>G | CA346598466 | SRD5A2 | c.415G>C (p.Gly139Arg) c.193G>C (p.Gly65Arg) c.160G>C (p.Gly54Arg) | |
2 | g.31533633C>T | CA346598467 | SRD5A2 | c.415G>A (p.Gly139Arg) c.193G>A (p.Gly65Arg) c.160G>A (p.Gly54Arg) | |
2 | g.31533634A>C | CA346598468 | SRD5A2 | c.414T>G (p.Asp138Glu) c.192T>G (p.Asp64Glu) c.159T>G (p.Asp53Glu) | |
2 | g.31533634A>G | CA425568245 | SRD5A2 | c.414T>C (p.Asp138=) c.192T>C (p.Asp64=) c.159T>C (p.Asp53=) | gnomAD v4 |
2 | g.31533634A>T | CA346598469 | SRD5A2 | c.414T>A (p.Asp138Glu) c.192T>A (p.Asp64Glu) c.159T>A (p.Asp53Glu) | |
2 | g.31533635T>A | CA346598472 | SRD5A2 | c.413A>T (p.Asp138Val) c.191A>T (p.Asp64Val) c.158A>T (p.Asp53Val) | dbSNP |
2 | g.31533635T>C | CA346598471 | SRD5A2 | c.413A>G (p.Asp138Gly) c.191A>G (p.Asp64Gly) c.158A>G (p.Asp53Gly) | |
2 | g.31533635T>G | CA346598470 | SRD5A2 | c.413A>C (p.Asp138Ala) c.191A>C (p.Asp64Ala) c.158A>C (p.Asp53Ala) | |
2 | g.31533635T= | CA1242199319 | SRD5A2 | c.413A= (p.Asp138=) c.191A= (p.Asp64=) c.158A= (p.Asp53=) | |
2 | g.31533636C>A | CA346598473 | SRD5A2 | c.412G>T (p.Asp138Tyr) c.190G>T (p.Asp64Tyr) c.157G>T (p.Asp53Tyr) | |
2 | g.31533636C>G | CA346598475 | SRD5A2 | c.412G>C (p.Asp138His) c.190G>C (p.Asp64His) c.157G>C (p.Asp53His) | |
2 | g.31533636C>T | CA346598474 | SRD5A2 | c.412G>A (p.Asp138Asn) c.190G>A (p.Asp64Asn) c.157G>A (p.Asp53Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.31533637A>C | CA425568250 | SRD5A2 | c.411T>G (p.Pro137=) c.189T>G (p.Pro63=) c.156T>G (p.Pro52=) | |
2 | g.31533637A>G | CA425568252 | SRD5A2 | c.411T>C (p.Pro137=) c.189T>C (p.Pro63=) c.156T>C (p.Pro52=) | |
2 | g.31533637A>T | CA425568253 | SRD5A2 | c.411T>A (p.Pro137=) c.189T>A (p.Pro63=) c.156T>A (p.Pro52=) | |
2 | g.31533638G>A | CA346598476 | SRD5A2 | c.410C>T (p.Pro137Leu) c.188C>T (p.Pro63Leu) c.155C>T (p.Pro52Leu) | |
2 | g.31533638G>C | CA346598477 | SRD5A2 | c.410C>G (p.Pro137Arg) c.188C>G (p.Pro63Arg) c.155C>G (p.Pro52Arg) | |
2 | g.31533638G>T | CA346598478 | SRD5A2 | c.410C>A (p.Pro137His) c.188C>A (p.Pro63His) c.155C>A (p.Pro52His) | |
2 | g.31533639G>A | CA346598479 | SRD5A2 | c.409C>T (p.Pro137Ser) c.187C>T (p.Pro63Ser) c.154C>T (p.Pro52Ser) | |
2 | g.31533639G>C | CA346598480 | SRD5A2 | c.409C>G (p.Pro137Ala) c.187C>G (p.Pro63Ala) c.154C>G (p.Pro52Ala) | |
2 | g.31533639G>T | CA346598481 | SRD5A2 | c.409C>A (p.Pro137Thr) c.187C>A (p.Pro63Thr) c.154C>A (p.Pro52Thr) | |
2 | g.31533640G>A | CA425568258 | SRD5A2 | c.408C>T (p.Tyr136=) c.186C>T (p.Tyr62=) c.153C>T (p.Tyr51=) | ClinVar gnomAD v4 |
2 | g.31533640G>C | CA346598482 | SRD5A2 | c.408C>G (p.Tyr136Ter) c.186C>G (p.Tyr62Ter) c.153C>G (p.Tyr51Ter) | gnomAD v4 |
2 | g.31533640G= | CA1242199320 | SRD5A2 | c.408C= (p.Tyr136=) c.186C= (p.Tyr62=) c.153C= (p.Tyr51=) | |
2 | g.31533640G>T | CA346598483 | SRD5A2 | c.408C>A (p.Tyr136Ter) c.186C>A (p.Tyr62Ter) c.153C>A (p.Tyr51Ter) | dbSNP |
2 | g.31533641T>A | CA346598484 | SRD5A2 | c.407A>T (p.Tyr136Phe) c.185A>T (p.Tyr62Phe) c.152A>T (p.Tyr51Phe) | |
2 | g.31533641T>C | CA346598485 | SRD5A2 | c.407A>G (p.Tyr136Cys) c.185A>G (p.Tyr62Cys) c.152A>G (p.Tyr51Cys) | |
2 | g.31533641T>G | CA346598486 | SRD5A2 | c.407A>C (p.Tyr136Ser) c.185A>C (p.Tyr62Ser) c.152A>C (p.Tyr51Ser) | |
2 | g.31533642A>C | CA346598489 | SRD5A2 | c.406T>G (p.Tyr136Asp) c.184T>G (p.Tyr62Asp) c.151T>G (p.Tyr51Asp) | |
2 | g.31533642A>G | CA346598488 | SRD5A2 | c.406T>C (p.Tyr136His) c.184T>C (p.Tyr62His) c.151T>C (p.Tyr51His) | |
2 | g.31533642A>T | CA346598487 | SRD5A2 | c.406T>A (p.Tyr136Asn) c.184T>A (p.Tyr62Asn) c.151T>A (p.Tyr51Asn) | |
2 | g.31533643T>A | CA346598490 | SRD5A2 | c.405A>T (p.Glu135Asp) c.183A>T (p.Glu61Asp) c.150A>T (p.Glu50Asp) | |
2 | g.31533643T>C | CA425568264 | SRD5A2 | c.405A>G (p.Glu135=) c.183A>G (p.Glu61=) c.150A>G (p.Glu50=) | |
2 | g.31533643T>G | CA346598491 | SRD5A2 | c.405A>C (p.Glu135Asp) c.183A>C (p.Glu61Asp) c.150A>C (p.Glu50Asp) | |
2 | g.31533644T>A | CA346598492 | SRD5A2 | c.404A>T (p.Glu135Val) c.182A>T (p.Glu61Val) c.149A>T (p.Glu50Val) | |
2 | g.31533644T>C | CA346598493 | SRD5A2 | c.404A>G (p.Glu135Gly) c.182A>G (p.Glu61Gly) c.149A>G (p.Glu50Gly) | |
2 | g.31533644T>G | CA346598494 | SRD5A2 | c.404A>C (p.Glu135Ala) c.182A>C (p.Glu61Ala) c.149A>C (p.Glu50Ala) | |
2 | g.31533645C>A | CA346598495 | SRD5A2 | c.403G>T (p.Glu135Ter) c.181G>T (p.Glu61Ter) c.148G>T (p.Glu50Ter) | |
2 | g.31533645C>G | CA346598496 | SRD5A2 | c.403G>C (p.Glu135Gln) c.181G>C (p.Glu61Gln) c.148G>C (p.Glu50Gln) | |
2 | g.31533645C>T | CA346598497 | SRD5A2 | c.403G>A (p.Glu135Lys) c.181G>A (p.Glu61Lys) c.148G>A (p.Glu50Lys) | ClinVar gnomAD v4 |
2 | g.31533646A= | CA1242199321 | SRD5A2 | c.402T= (p.Ala134=) c.180T= (p.Ala60=) c.147T= (p.Ala49=) | |
2 | g.31533646A>C | CA425568269 | SRD5A2 | c.402T>G (p.Ala134=) c.180T>G (p.Ala60=) c.147T>G (p.Ala49=) | |
2 | g.31533646A>G | CA425568271 | SRD5A2 | c.402T>C (p.Ala134=) c.180T>C (p.Ala60=) c.147T>C (p.Ala49=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533646A>T | CA425568272 | SRD5A2 | c.402T>A (p.Ala134=) c.180T>A (p.Ala60=) c.147T>A (p.Ala49=) | |
2 | g.31533647G>A | CA346598498 | SRD5A2 | c.401C>T (p.Ala134Val) c.179C>T (p.Ala60Val) c.146C>T (p.Ala49Val) | gnomAD v4 |
2 | g.31533647G>C | CA346598499 | SRD5A2 | c.401C>G (p.Ala134Gly) c.179C>G (p.Ala60Gly) c.146C>G (p.Ala49Gly) | |
2 | g.31533647G>T | CA346598500 | SRD5A2 | c.401C>A (p.Ala134Asp) c.179C>A (p.Ala60Asp) c.146C>A (p.Ala49Asp) | |
2 | g.31533648C>A | CA346598503 | SRD5A2 | c.400G>T (p.Ala134Ser) c.178G>T (p.Ala60Ser) c.145G>T (p.Ala49Ser) | gnomAD v4 |
2 | g.31533648C>G | CA346598502 | SRD5A2 | c.400G>C (p.Ala134Pro) c.178G>C (p.Ala60Pro) c.145G>C (p.Ala49Pro) | |
2 | g.31533648C>T | CA346598501 | SRD5A2 | c.400G>A (p.Ala134Thr) c.178G>A (p.Ala60Thr) c.145G>A (p.Ala49Thr) | |
2 | g.31533649A>C | CA346598504 | SRD5A2 | c.399T>G (p.Cys133Trp) c.177T>G (p.Cys59Trp) c.144T>G (p.Cys48Trp) | |
2 | g.31533649A>G | CA425568278 | SRD5A2 | c.399T>C (p.Cys133=) c.177T>C (p.Cys59=) c.144T>C (p.Cys48=) | gnomAD v4 |
2 | g.31533649A>T | CA346598505 | SRD5A2 | c.399T>A (p.Cys133Ter) c.177T>A (p.Cys59Ter) c.144T>A (p.Cys48Ter) | |
2 | g.31533650C>A | CA1599948 | SRD5A2 | c.398G>T (p.Cys133Phe) c.176G>T (p.Cys59Phe) c.143G>T (p.Cys48Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533650C= | CA1242199322 | SRD5A2 | c.398G= (p.Cys133=) c.176G= (p.Cys59=) c.143G= (p.Cys48=) | |
2 | g.31533650C>G | CA346598506 | SRD5A2 | c.398G>C (p.Cys133Ser) c.176G>C (p.Cys59Ser) c.143G>C (p.Cys48Ser) | |
2 | g.31533650C>T | CA1599947 | SRD5A2 | c.398G>A (p.Cys133Tyr) c.176G>A (p.Cys59Tyr) c.143G>A (p.Cys48Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533651A>C | CA346598507 | SRD5A2 | c.397T>G (p.Cys133Gly) c.175T>G (p.Cys59Gly) c.142T>G (p.Cys48Gly) | gnomAD v4 |
2 | g.31533651A>G | CA346598508 | SRD5A2 | c.397T>C (p.Cys133Arg) c.175T>C (p.Cys59Arg) c.142T>C (p.Cys48Arg) | gnomAD v4 |
2 | g.31533651A>T | CA346598509 | SRD5A2 | c.397T>A (p.Cys133Ser) c.175T>A (p.Cys59Ser) c.142T>A (p.Cys48Ser) | |
2 | g.31533652G>A | CA425568283 | SRD5A2 | c.396C>T (p.Tyr132=) c.174C>T (p.Tyr58=) c.141C>T (p.Tyr47=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533652G>C | CA346598510 | SRD5A2 | c.396C>G (p.Tyr132Ter) c.174C>G (p.Tyr58Ter) c.141C>G (p.Tyr47Ter) | |
2 | g.31533652G= | CA1242199323 | SRD5A2 | c.396C= (p.Tyr132=) c.174C= (p.Tyr58=) c.141C= (p.Tyr47=) | |
2 | g.31533652G>T | CA346598511 | SRD5A2 | c.396C>A (p.Tyr132Ter) c.174C>A (p.Tyr58Ter) c.141C>A (p.Tyr47Ter) | |
2 | g.31533653T>A | CA346598512 | SRD5A2 | c.395A>T (p.Tyr132Phe) c.173A>T (p.Tyr58Phe) c.140A>T (p.Tyr47Phe) | |
2 | g.31533653T>C | CA346598513 | SRD5A2 | c.395A>G (p.Tyr132Cys) c.173A>G (p.Tyr58Cys) c.140A>G (p.Tyr47Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533653T>G | CA346598514 | SRD5A2 | c.395A>C (p.Tyr132Ser) c.173A>C (p.Tyr58Ser) c.140A>C (p.Tyr47Ser) | |
2 | g.31533653T= | CA1242199324 | SRD5A2 | c.395A= (p.Tyr132=) c.173A= (p.Tyr58=) c.140A= (p.Tyr47=) | |
2 | g.31533654A>C | CA346598517 | SRD5A2 | c.394T>G (p.Tyr132Asp) c.172T>G (p.Tyr58Asp) c.139T>G (p.Tyr47Asp) | |
2 | g.31533654A>G | CA346598515 | SRD5A2 | c.394T>C (p.Tyr132His) c.172T>C (p.Tyr58His) c.139T>C (p.Tyr47His) | |
2 | g.31533654A>T | CA346598516 | SRD5A2 | c.394T>A (p.Tyr132Asn) c.172T>A (p.Tyr58Asn) c.139T>A (p.Tyr47Asn) | |
2 | g.31533655A>C | CA346598518 | SRD5A2 | c.393T>G (p.Ile131Met) c.171T>G (p.Ile57Met) c.138T>G (p.Ile46Met) | |
2 | g.31533655A>G | CA425568290 | SRD5A2 | c.393T>C (p.Ile131=) c.171T>C (p.Ile57=) c.138T>C (p.Ile46=) | |
2 | g.31533655A>T | CA425568291 | SRD5A2 | c.393T>A (p.Ile131=) c.171T>A (p.Ile57=) c.138T>A (p.Ile46=) | |
2 | g.31533656A>C | CA346598519 | SRD5A2 | c.392T>G (p.Ile131Ser) c.170T>G (p.Ile57Ser) c.137T>G (p.Ile46Ser) | |
2 | g.31533656A>G | CA346598520 | SRD5A2 | c.392T>C (p.Ile131Thr) c.170T>C (p.Ile57Thr) c.137T>C (p.Ile46Thr) | |
2 | g.31533656A>T | CA346598521 | SRD5A2 | c.392T>A (p.Ile131Asn) c.170T>A (p.Ile57Asn) c.137T>A (p.Ile46Asn) | |
2 | g.31533657T>A | CA346598522 | SRD5A2 | c.391A>T (p.Ile131Phe) c.169A>T (p.Ile57Phe) c.136A>T (p.Ile46Phe) | |
2 | g.31533657T>C | CA346598523 | SRD5A2 | c.391A>G (p.Ile131Val) c.169A>G (p.Ile57Val) c.136A>G (p.Ile46Val) | |
2 | g.31533657T>G | CA346598524 | SRD5A2 | c.391A>C (p.Ile131Leu) c.169A>C (p.Ile57Leu) c.136A>C (p.Ile46Leu) | |
2 | g.31533658C>A | CA425568297 | SRD5A2 | c.390G>T (p.Leu130=) c.168G>T (p.Leu56=) c.135G>T (p.Leu45=) | |
2 | g.31533658C>G | CA425568298 | SRD5A2 | c.390G>C (p.Leu130=) c.168G>C (p.Leu56=) c.135G>C (p.Leu45=) | gnomAD v4 |
2 | g.31533658C>T | CA425568300 | SRD5A2 | c.390G>A (p.Leu130=) c.168G>A (p.Leu56=) c.135G>A (p.Leu45=) | |
2 | g.31533658_31533673delinsCAGATAGTAGCCTTGA | CA1242199325 | SRD5A2 | c.375_390delinsTCAAGGCTACTATCTG (p.Leu125=) c.153_168delinsTCAAGGCTACTATCTG (p.Leu51=) c.120_135delinsTCAAGGCTACTATCTG (p.Leu40=) | |
2 | g.31533659A>C | CA346598525 | SRD5A2 | c.389T>G (p.Leu130Arg) c.167T>G (p.Leu56Arg) c.134T>G (p.Leu45Arg) | |
2 | g.31533659A>G | CA346598526 | SRD5A2 | c.389T>C (p.Leu130Pro) c.167T>C (p.Leu56Pro) c.134T>C (p.Leu45Pro) | |
2 | g.31533659A>T | CA346598527 | SRD5A2 | c.389T>A (p.Leu130Gln) c.167T>A (p.Leu56Gln) c.134T>A (p.Leu45Gln) | |
2 | g.31533661_31533675del | CA1242199326 | SRD5A2 | c.375_389del (p.Gln126_Leu130del) c.153_167del (p.Gln52_Leu56del) c.120_134del (p.Gln41_Leu45del) | dbSNP |
2 | g.31533660G>A | CA425568303 | SRD5A2 | c.388C>T (p.Leu130=) c.166C>T (p.Leu56=) c.133C>T (p.Leu45=) | |
2 | g.31533660G>C | CA1599949 | SRD5A2 | c.388C>G (p.Leu130Val) c.166C>G (p.Leu56Val) c.133C>G (p.Leu45Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533660G= | CA1242199327 | SRD5A2 | c.388C= (p.Leu130=) c.166C= (p.Leu56=) c.133C= (p.Leu45=) | |
2 | g.31533660G>T | CA346598528 | SRD5A2 | c.388C>A (p.Leu130Met) c.166C>A (p.Leu56Met) c.133C>A (p.Leu45Met) | gnomAD v4 |
2 | g.31533661A>C | CA346598530 | SRD5A2 | c.387T>G (p.Tyr129Ter) c.165T>G (p.Tyr55Ter) c.132T>G (p.Tyr44Ter) | |
2 | g.31533661A>G | CA425568306 | SRD5A2 | c.387T>C (p.Tyr129=) c.165T>C (p.Tyr55=) c.132T>C (p.Tyr44=) | |
2 | g.31533661A>T | CA346598529 | SRD5A2 | c.387T>A (p.Tyr129Ter) c.165T>A (p.Tyr55Ter) c.132T>A (p.Tyr44Ter) | |
2 | g.31533662T>A | CA346598531 | SRD5A2 | c.386A>T (p.Tyr129Phe) c.164A>T (p.Tyr55Phe) c.131A>T (p.Tyr44Phe) | |
2 | g.31533662T>C | CA1599950 | SRD5A2 | c.386A>G (p.Tyr129Cys) c.164A>G (p.Tyr55Cys) c.131A>G (p.Tyr44Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533662T>G | CA45136778 | SRD5A2 | c.386A>C (p.Tyr129Ser) c.164A>C (p.Tyr55Ser) c.131A>C (p.Tyr44Ser) | dbSNP gnomAD v4 |
2 | g.31533662T= | CA1242199328 | SRD5A2 | c.386A= (p.Tyr129=) c.164A= (p.Tyr55=) c.131A= (p.Tyr44=) | |
2 | g.31533663A= | CA1242199329 | SRD5A2 | c.385T= (p.Tyr129=) c.163T= (p.Tyr55=) c.130T= (p.Tyr44=) | |
2 | g.31533663A>C | CA346598532 | SRD5A2 | c.385T>G (p.Tyr129Asp) c.163T>G (p.Tyr55Asp) c.130T>G (p.Tyr44Asp) | ClinVar dbSNP |
2 | g.31533663A>G | CA346598533 | SRD5A2 | c.385T>C (p.Tyr129His) c.163T>C (p.Tyr55His) c.130T>C (p.Tyr44His) | |
2 | g.31533663A>T | CA346598534 | SRD5A2 | c.385T>A (p.Tyr129Asn) c.163T>A (p.Tyr55Asn) c.130T>A (p.Tyr44Asn) | COSMIC |
2 | g.31533664G>A | CA425568311 | SRD5A2 | c.384C>T (p.Tyr128=) c.162C>T (p.Tyr54=) c.129C>T (p.Tyr43=) | |
2 | g.31533664G>C | CA346598535 | SRD5A2 | c.384C>G (p.Tyr128Ter) c.162C>G (p.Tyr54Ter) c.129C>G (p.Tyr43Ter) | ClinVar dbSNP |
2 | g.31533664G= | CA1242199330 | SRD5A2 | c.384C= (p.Tyr128=) c.162C= (p.Tyr54=) c.129C= (p.Tyr43=) | |
2 | g.31533664G>T | CA346598536 | SRD5A2 | c.384C>A (p.Tyr128Ter) c.162C>A (p.Tyr54Ter) c.129C>A (p.Tyr43Ter) | gnomAD v4 |
2 | g.31533664_31533665delinsTC | CA2580066367 | SRD5A2 | c.383_384delinsGA (p.Tyr128Ter) c.161_162delinsGA (p.Tyr54Ter) c.128_129delinsGA (p.Tyr43Ter) | ClinVar |
2 | g.31533664_31533672del | CA2749375123 | SRD5A2 | c.376_384del (p.Gln126_Tyr128del) c.154_162del (p.Gln52_Tyr54del) c.121_129del (p.Gln41_Tyr43del) | |
2 | g.31533665T>A | CA346598537 | SRD5A2 | c.383A>T (p.Tyr128Phe) c.161A>T (p.Tyr54Phe) c.128A>T (p.Tyr43Phe) | |
2 | g.31533665T>C | CA1599951 | SRD5A2 | c.383A>G (p.Tyr128Cys) c.161A>G (p.Tyr54Cys) c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533665T>G | CA346598538 | SRD5A2 | c.383A>C (p.Tyr128Ser) c.161A>C (p.Tyr54Ser) c.128A>C (p.Tyr43Ser) | |
2 | g.31533665T= | CA1242199331 | SRD5A2 | c.383A= (p.Tyr128=) c.161A= (p.Tyr54=) c.128A= (p.Tyr43=) | |
2 | g.31533666A>C | CA346598539 | SRD5A2 | c.382T>G (p.Tyr128Asp) c.160T>G (p.Tyr54Asp) c.127T>G (p.Tyr43Asp) | |
2 | g.31533666A>G | CA346598540 | SRD5A2 | c.382T>C (p.Tyr128His) c.160T>C (p.Tyr54His) c.127T>C (p.Tyr43His) | |
2 | g.31533666A>T | CA346598541 | SRD5A2 | c.382T>A (p.Tyr128Asn) c.160T>A (p.Tyr54Asn) c.127T>A (p.Tyr43Asn) | ClinVar |
2 | g.31533667G>A | CA425568320 | SRD5A2 | c.381C>T (p.Gly127=) c.159C>T (p.Gly53=) c.126C>T (p.Gly42=) | |
2 | g.31533667G>C | CA425568318 | SRD5A2 | c.381C>G (p.Gly127=) c.159C>G (p.Gly53=) c.126C>G (p.Gly42=) | |
2 | g.31533667G>T | CA425568317 | SRD5A2 | c.381C>A (p.Gly127=) c.159C>A (p.Gly53=) c.126C>A (p.Gly42=) | gnomAD v4 |
2 | g.31533668C>A | CA346598544 | SRD5A2 | c.380G>T (p.Gly127Val) c.158G>T (p.Gly53Val) c.125G>T (p.Gly42Val) | gnomAD v4 |
2 | g.31533668C>G | CA346598543 | SRD5A2 | c.380G>C (p.Gly127Ala) c.158G>C (p.Gly53Ala) c.125G>C (p.Gly42Ala) | |
2 | g.31533668C>T | CA346598542 | SRD5A2 | c.380G>A (p.Gly127Asp) c.158G>A (p.Gly53Asp) c.125G>A (p.Gly42Asp) | COSMIC |
2 | g.31533669C>A | CA346598545 | SRD5A2 | c.379G>T (p.Gly127Cys) c.157G>T (p.Gly53Cys) c.124G>T (p.Gly42Cys) | gnomAD v4 |
2 | g.31533669C>G | CA346598546 | SRD5A2 | c.379G>C (p.Gly127Arg) c.157G>C (p.Gly53Arg) c.124G>C (p.Gly42Arg) | |
2 | g.31533669C>T | CA346598547 | SRD5A2 | c.379G>A (p.Gly127Ser) c.157G>A (p.Gly53Ser) c.124G>A (p.Gly42Ser) | COSMIC |
2 | g.31533670T>A | CA346598548 | SRD5A2 | c.378A>T (p.Gln126His) c.156A>T (p.Gln52His) c.123A>T (p.Gln41His) | |
2 | g.31533670T>C | CA425568325 | SRD5A2 | c.378A>G (p.Gln126=) c.156A>G (p.Gln52=) c.123A>G (p.Gln41=) | |
2 | g.31533670T>G | CA346598549 | SRD5A2 | c.378A>C (p.Gln126His) c.156A>C (p.Gln52His) c.123A>C (p.Gln41His) | |
2 | g.31533671T>A | CA346598550 | SRD5A2 | c.377A>T (p.Gln126Leu) c.155A>T (p.Gln52Leu) c.122A>T (p.Gln41Leu) | |
2 | g.31533671T>C | CA1599952 | SRD5A2 | c.377A>G (p.Gln126Arg) c.155A>G (p.Gln52Arg) c.122A>G (p.Gln41Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533671T>G | CA346598551 | SRD5A2 | c.377A>C (p.Gln126Pro) c.155A>C (p.Gln52Pro) c.122A>C (p.Gln41Pro) | |
2 | g.31533671T= | CA1242199332 | SRD5A2 | c.377A= (p.Gln126=) c.155A= (p.Gln52=) c.122A= (p.Gln41=) | |
2 | g.31533672G>A | CA346598552 | SRD5A2 | c.376C>T (p.Gln126Ter) c.154C>T (p.Gln52Ter) c.121C>T (p.Gln41Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533672G>C | CA346598553 | SRD5A2 | c.376C>G (p.Gln126Glu) c.154C>G (p.Gln52Glu) c.121C>G (p.Gln41Glu) | |
2 | g.31533672G= | CA1242199333 | SRD5A2 | c.376C= (p.Gln126=) c.154C= (p.Gln52=) c.121C= (p.Gln41=) | |
2 | g.31533672G>T | CA346598554 | SRD5A2 | c.376C>A (p.Gln126Lys) c.154C>A (p.Gln52Lys) c.121C>A (p.Gln41Lys) | gnomAD v4 |
2 | g.31533673A>C | CA425568330 | SRD5A2 | c.375T>G (p.Leu125=) c.153T>G (p.Leu51=) c.120T>G (p.Leu40=) | |
2 | g.31533673A>G | CA425568332 | SRD5A2 | c.375T>C (p.Leu125=) c.153T>C (p.Leu51=) c.120T>C (p.Leu40=) | |
2 | g.31533673A>T | CA425568331 | SRD5A2 | c.375T>A (p.Leu125=) c.153T>A (p.Leu51=) c.120T>A (p.Leu40=) | |
2 | g.31533674A>C | CA346598555 | SRD5A2 | c.374T>G (p.Leu125Arg) c.152T>G (p.Leu51Arg) c.119T>G (p.Leu40Arg) | |
2 | g.31533674A>G | CA346598556 | SRD5A2 | c.374T>C (p.Leu125Pro) c.152T>C (p.Leu51Pro) c.119T>C (p.Leu40Pro) | gnomAD v4 |
2 | g.31533674A>T | CA346598557 | SRD5A2 | c.374T>A (p.Leu125His) c.152T>A (p.Leu51His) c.119T>A (p.Leu40His) | |
2 | g.31533675G>A | CA346598559 | SRD5A2 | c.373C>T (p.Leu125Phe) c.151C>T (p.Leu51Phe) c.118C>T (p.Leu40Phe) | |
2 | g.31533675G>C | CA346598560 | SRD5A2 | c.373C>G (p.Leu125Val) c.151C>G (p.Leu51Val) c.118C>G (p.Leu40Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533675G= | CA1242199334 | SRD5A2 | c.373C= (p.Leu125=) c.151C= (p.Leu51=) c.118C= (p.Leu40=) | |
2 | g.31533675G>T | CA346598558 | SRD5A2 | c.373C>A (p.Leu125Ile) c.151C>A (p.Leu51Ile) c.118C>A (p.Leu40Ile) | gnomAD v4 |
2 | g.31533676del | CA2658499248 | SRD5A2 | c.373del (p.Leu125PhefsTer6) c.151del (p.Leu51PhefsTer6) c.118del (p.Leu40PhefsTer6) | gnomAD v4 |
2 | g.31533676G>A | CA425568337 | SRD5A2 | c.372C>T (p.Val124=) c.150C>T (p.Val50=) c.117C>T (p.Val39=) | dbSNP |
2 | g.31533676G>C | CA425568338 | SRD5A2 | c.372C>G (p.Val124=) c.150C>G (p.Val50=) c.117C>G (p.Val39=) | |
2 | g.31533676G= | CA1242199335 | SRD5A2 | c.372C= (p.Val124=) c.150C= (p.Val50=) c.117C= (p.Val39=) | |
2 | g.31533676G>T | CA425568340 | SRD5A2 | c.372C>A (p.Val124=) c.150C>A (p.Val50=) c.117C>A (p.Val39=) | |
2 | g.31533677A= | CA1242199336 | SRD5A2 | c.371T= (p.Val124=) c.149T= (p.Val50=) c.116T= (p.Val39=) | |
2 | g.31533677A>C | CA346598561 | SRD5A2 | c.371T>G (p.Val124Gly) c.149T>G (p.Val50Gly) c.116T>G (p.Val39Gly) | |
2 | g.31533677A>G | CA346598562 | SRD5A2 | c.371T>C (p.Val124Ala) c.149T>C (p.Val50Ala) c.116T>C (p.Val39Ala) | |
2 | g.31533677A>T | CA346598563 | SRD5A2 | c.371T>A (p.Val124Asp) c.149T>A (p.Val50Asp) c.116T>A (p.Val39Asp) | dbSNP gnomAD v4 |
2 | g.31533678C>A | CA346598564 | SRD5A2 | c.370G>T (p.Val124Phe) c.148G>T (p.Val50Phe) c.115G>T (p.Val39Phe) | gnomAD v4 |
2 | g.31533678C>G | CA346598565 | SRD5A2 | c.370G>C (p.Val124Leu) c.148G>C (p.Val50Leu) c.115G>C (p.Val39Leu) | |
2 | g.31533678C>T | CA346598566 | SRD5A2 | c.370G>A (p.Val124Ile) c.148G>A (p.Val50Ile) c.115G>A (p.Val39Ile) | gnomAD v4 |
2 | g.31533679T>A | CA425568345 | SRD5A2 | c.369A>T (p.Gly123=) c.147A>T (p.Gly49=) c.114A>T (p.Gly38=) | gnomAD v4 |
2 | g.31533679T>C | CA425568346 | SRD5A2 | c.369A>G (p.Gly123=) c.147A>G (p.Gly49=) c.114A>G (p.Gly38=) | gnomAD v4 |
2 | g.31533679T>G | CA425568347 | SRD5A2 | c.369A>C (p.Gly123=) c.147A>C (p.Gly49=) c.114A>C (p.Gly38=) | |
2 | g.31533680C>A | CA346598567 | SRD5A2 | c.368G>T (p.Gly123Val) c.146G>T (p.Gly49Val) c.113G>T (p.Gly38Val) | gnomAD v4 |
2 | g.31533680C>G | CA346598568 | SRD5A2 | c.368G>C (p.Gly123Ala) c.146G>C (p.Gly49Ala) c.113G>C (p.Gly38Ala) | gnomAD v4 |
2 | g.31533680C>T | CA346598569 | SRD5A2 | c.368G>A (p.Gly123Glu) c.146G>A (p.Gly49Glu) c.113G>A (p.Gly38Glu) | gnomAD v4 |
2 | g.31533681C>A | CA346598570 | SRD5A2 | c.367G>T (p.Gly123Ter) c.145G>T (p.Gly49Ter) c.112G>T (p.Gly38Ter) | |
2 | g.31533681C= | CA1242199337 | SRD5A2 | c.367G= (p.Gly123=) c.145G= (p.Gly49=) c.112G= (p.Gly38=) | |
2 | g.31533681C>G | CA346598571 | SRD5A2 | c.367G>C (p.Gly123Arg) c.145G>C (p.Gly49Arg) c.112G>C (p.Gly38Arg) | |
2 | g.31533681C>T | CA346598572 | SRD5A2 | c.367G>A (p.Gly123Arg) c.145G>A (p.Gly49Arg) c.112G>A (p.Gly38Arg) | dbSNP gnomAD v4 |
2 | g.31533682A= | CA1242199339 | SRD5A2 | c.366T= (p.Asn122=) c.144T= (p.Asn48=) c.111T= (p.Asn37=) | |
2 | g.31533682A>C | CA346598574 | SRD5A2 | c.366T>G (p.Asn122Lys) c.144T>G (p.Asn48Lys) c.111T>G (p.Asn37Lys) | |
2 | g.31533682A>G | CA1599953 | SRD5A2 | c.366T>C (p.Asn122=) c.144T>C (p.Asn48=) c.111T>C (p.Asn37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533682A>T | CA346598573 | SRD5A2 | c.366T>A (p.Asn122Lys) c.144T>A (p.Asn48Lys) c.111T>A (p.Asn37Lys) | |
2 | g.31533682_31533683delinsAT | CA1242199338 | SRD5A2 | c.365_366delinsAT (p.Asn122=) c.143_144delinsAT (p.Asn48=) c.110_111delinsAT (p.Asn37=) | |
2 | g.31533683T>A | CA346598575 | SRD5A2 | c.365A>T (p.Asn122Ile) c.143A>T (p.Asn48Ile) c.110A>T (p.Asn37Ile) | |
2 | g.31533683T>C | CA346598576 | SRD5A2 | c.365A>G (p.Asn122Ser) c.143A>G (p.Asn48Ser) c.110A>G (p.Asn37Ser) | |
2 | g.31533683T>G | CA346598577 | SRD5A2 | c.365A>C (p.Asn122Thr) c.143A>C (p.Asn48Thr) c.110A>C (p.Asn37Thr) | |
2 | g.31533685del | CA45136779 | SRD5A2 | c.365del (p.Asn122MetfsTer9) c.143del (p.Asn48MetfsTer9) c.110del (p.Asn37MetfsTer9) | dbSNP |
2 | g.31533684T>A | CA346598579 | SRD5A2 | c.364A>T (p.Asn122Tyr) c.142A>T (p.Asn48Tyr) c.109A>T (p.Asn37Tyr) | |
2 | g.31533684T>C | CA1599954 | SRD5A2 | c.364A>G (p.Asn122Asp) c.142A>G (p.Asn48Asp) c.109A>G (p.Asn37Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533684T>G | CA346598578 | SRD5A2 | c.364A>C (p.Asn122His) c.142A>C (p.Asn48His) c.109A>C (p.Asn37His) | |
2 | g.31533684T= | CA1242199340 | SRD5A2 | c.364A= (p.Asn122=) c.142A= (p.Asn48=) c.109A= (p.Asn37=) | |
2 | g.31533685T>A | CA425568358 | SRD5A2 | c.363A>T (p.Gly121=) c.141A>T (p.Gly47=) c.108A>T (p.Gly36=) | |
2 | g.31533685T>C | CA425568359 | SRD5A2 | c.363A>G (p.Gly121=) c.141A>G (p.Gly47=) c.108A>G (p.Gly36=) | gnomAD v4 |
2 | g.31533685T>G | CA425568360 | SRD5A2 | c.363A>C (p.Gly121=) c.141A>C (p.Gly47=) c.108A>C (p.Gly36=) |