Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31533581A=CA1242199294SRD5A2c.445+22T= (n.445+22T=)
c.223+22T= (n.223+22T=)
c.190+22T= (n.190+22T=)
2g.31533581A>GCA1242199295SRD5A2c.445+22T>C (n.445+22T>C)
c.223+22T>C (n.223+22T>C)
c.190+22T>C (n.190+22T>C)
 dbSNP
2g.31533582G>ACA531769391SRD5A2c.445+21C>T (n.445+21C>T)
c.223+21C>T (n.223+21C>T)
c.190+21C>T (n.190+21C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533582G>CCA2658499082SRD5A2c.445+21C>G (n.445+21C>G)
c.223+21C>G (n.223+21C>G)
c.190+21C>G (n.190+21C>G)
 gnomAD v4
2g.31533582G=CA1242199296SRD5A2c.445+21C= (n.445+21C=)
c.223+21C= (n.223+21C=)
c.190+21C= (n.190+21C=)
2g.31533583A>CCA2658499085SRD5A2c.445+20T>G (n.445+20T>G)
c.223+20T>G (n.223+20T>G)
c.190+20T>G (n.190+20T>G)
 gnomAD v4
2g.31533583A>TCA2658499086SRD5A2c.445+20T>A (n.445+20T>A)
c.223+20T>A (n.223+20T>A)
c.190+20T>A (n.190+20T>A)
 gnomAD v4
2g.31533585G>ACA2576929419SRD5A2c.445+18C>T (n.445+18C>T)
c.223+18C>T (n.223+18C>T)
c.190+18C>T (n.190+18C>T)
2g.31533585G>CCA2658499089SRD5A2c.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
2g.31533585G=CA1242199297SRD5A2c.445+18C= (n.445+18C=)
c.223+18C= (n.223+18C=)
c.190+18C= (n.190+18C=)
2g.31533585G>TCA45136775SRD5A2c.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
2g.31533586T>ACA2658499091SRD5A2c.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
2g.31533586T>CCA531769392SRD5A2c.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
2g.31533586T>GCA1242199299SRD5A2c.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
2g.31533586T=CA1242199298SRD5A2c.445+17A= (n.445+17A=)
c.223+17A= (n.223+17A=)
c.190+17A= (n.190+17A=)
2g.31533587G>ACA2658499095SRD5A2c.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
2g.31533589delCA2697547974SRD5A2c.445+16del (n.445+16del)
c.223+16del (n.223+16del)
c.190+16del (n.190+16del)
 ClinVar
2g.31533588G>ACA1028957132SRD5A2c.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
2g.31533588G>CCA1242199301SRD5A2c.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
2g.31533588G=CA1242199300SRD5A2c.445+15C= (n.445+15C=)
c.223+15C= (n.223+15C=)
c.190+15C= (n.190+15C=)
2g.31533588G>TCA2658499101SRD5A2c.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
2g.31533589G>ACA2658499103SRD5A2c.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
2g.31533590C=CA1242199302SRD5A2c.445+13G= (n.445+13G=)
c.223+13G= (n.223+13G=)
c.190+13G= (n.190+13G=)
2g.31533590C>GCA45136776SRD5A2c.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
2g.31533590C>TCA2658499108SRD5A2c.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
2g.31533591A=CA1242199303SRD5A2c.445+12T= (n.445+12T=)
c.223+12T= (n.223+12T=)
c.190+12T= (n.190+12T=)
2g.31533591A>GCA531769393SRD5A2c.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
2g.31533592G>ACA1599940SRD5A2c.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
2g.31533592G=CA1242199304SRD5A2c.445+11C= (n.445+11C=)
c.223+11C= (n.223+11C=)
c.190+11C= (n.190+11C=)
2g.31533592G>TCA2658499113SRD5A2c.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
2g.31533595T>ACA531769394SRD5A2c.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
2g.31533595T>GCA224888SRD5A2c.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
2g.31533595T=CA1242199305SRD5A2c.445+8A= (n.445+8A=)
c.223+8A= (n.223+8A=)
c.190+8A= (n.190+8A=)
2g.31533596C>TCA2658499122SRD5A2c.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
2g.31533598C>TCA2658499124SRD5A2c.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
2g.31533600T>CCA2595152872SRD5A2c.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
2g.31533601A=CA1242199306SRD5A2c.445+2T= (n.445+2T=)
c.223+2T= (n.223+2T=)
c.190+2T= (n.190+2T=)
2g.31533601A>CCA346598394SRD5A2c.445+2T>G (n.445+2T>G)
c.223+2T>G (n.223+2T>G)
c.190+2T>G (n.190+2T>G)
2g.31533601A>GCA346598395SRD5A2c.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
2g.31533601A>TCA346598393SRD5A2c.445+2T>A (n.445+2T>A)
c.223+2T>A (n.223+2T>A)
c.190+2T>A (n.190+2T>A)
2g.31533602C>ACA346598396SRD5A2c.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
2g.31533602C=CA1242199307SRD5A2c.445+1G= (n.445+1G=)
c.223+1G= (n.223+1G=)
c.190+1G= (n.190+1G=)
2g.31533602C>GCA346598397SRD5A2c.445+1G>C (n.445+1G>C)
c.223+1G>C (n.223+1G>C)
c.190+1G>C (n.190+1G>C)
2g.31533602C>TCA346598398SRD5A2c.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
2g.31533603C>ACA346598399SRD5A2c.445G>T (p.Gly149Cys)
c.445G>T (p.Ala149Ser)
c.223G>T (p.Gly75Cys)
c.190G>T (p.Gly64Cys)
2g.31533603C>GCA346598400SRD5A2c.445G>C (p.Gly149Arg)
c.445G>C (p.Ala149Pro)
c.223G>C (p.Gly75Arg)
c.190G>C (p.Gly64Arg)
2g.31533603C>TCA346598401SRD5A2c.445G>A (p.Gly149Ser)
c.445G>A (p.Ala149Thr)
c.223G>A (p.Gly75Ser)
c.190G>A (p.Gly64Ser)
2g.31533604C>ACA346598402SRD5A2c.444G>T (p.Leu148Phe)
c.222G>T (p.Leu74Phe)
c.189G>T (p.Leu63Phe)
2g.31533604C>GCA346598403SRD5A2c.444G>C (p.Leu148Phe)
c.222G>C (p.Leu74Phe)
c.189G>C (p.Leu63Phe)
2g.31533604C>TCA425568180SRD5A2c.444G>A (p.Leu148=)
c.222G>A (p.Leu74=)
c.189G>A (p.Leu63=)
2g.31533605A>CCA346598404SRD5A2c.443T>G (p.Leu148Trp)
c.221T>G (p.Leu74Trp)
c.188T>G (p.Leu63Trp)
2g.31533605A>GCA346598405SRD5A2c.443T>C (p.Leu148Ser)
c.221T>C (p.Leu74Ser)
c.188T>C (p.Leu63Ser)
2g.31533605A>TCA346598406SRD5A2c.443T>A (p.Leu148Ter)
c.221T>A (p.Leu74Ter)
c.188T>A (p.Leu63Ter)
2g.31533606A=CA1242199308SRD5A2c.442T= (p.Leu148=)
c.220T= (p.Leu74=)
c.187T= (p.Leu63=)
2g.31533606A>CCA346598407SRD5A2c.442T>G (p.Leu148Val)
c.220T>G (p.Leu74Val)
c.187T>G (p.Leu63Val)
2g.31533606A>GCA425568184SRD5A2c.442T>C (p.Leu148=)
c.220T>C (p.Leu74=)
c.187T>C (p.Leu63=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533606A>TCA346598408SRD5A2c.442T>A (p.Leu148Met)
c.220T>A (p.Leu74Met)
c.187T>A (p.Leu63Met)
2g.31533607G>ACA1599941SRD5A2c.441C>T (p.Ser147=)
c.219C>T (p.Ser73=)
c.186C>T (p.Ser62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31533607G>CCA346598410SRD5A2c.441C>G (p.Ser147Arg)
c.219C>G (p.Ser73Arg)
c.186C>G (p.Ser62Arg)
2g.31533607G=CA1242199309SRD5A2c.441C= (p.Ser147=)
c.219C= (p.Ser73=)
c.186C= (p.Ser62=)
2g.31533607G>TCA346598409SRD5A2c.441C>A (p.Ser147Arg)
c.219C>A (p.Ser73Arg)
c.186C>A (p.Ser62Arg)
2g.31533608C>ACA346598411SRD5A2c.440G>T (p.Ser147Ile)
c.218G>T (p.Ser73Ile)
c.185G>T (p.Ser62Ile)
 dbSNP gnomAD v4
2g.31533608C=CA1242199310SRD5A2c.440G= (p.Ser147=)
c.218G= (p.Ser73=)
c.185G= (p.Ser62=)
2g.31533608C>GCA346598413SRD5A2c.440G>C (p.Ser147Thr)
c.218G>C (p.Ser73Thr)
c.185G>C (p.Ser62Thr)
2g.31533608C>TCA346598412SRD5A2c.440G>A (p.Ser147Asn)
c.218G>A (p.Ser73Asn)
c.185G>A (p.Ser62Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.31533609T>ACA346598414SRD5A2c.439A>T (p.Ser147Cys)
c.217A>T (p.Ser73Cys)
c.184A>T (p.Ser62Cys)
2g.31533609T>CCA346598416SRD5A2c.439A>G (p.Ser147Gly)
c.217A>G (p.Ser73Gly)
c.184A>G (p.Ser62Gly)
2g.31533609T>GCA346598415SRD5A2c.439A>C (p.Ser147Arg)
c.217A>C (p.Ser73Arg)
c.184A>C (p.Ser62Arg)
2g.31533610A>CCA346598417SRD5A2c.438T>G (p.Phe146Leu)
c.216T>G (p.Phe72Leu)
c.183T>G (p.Phe61Leu)
2g.31533610A>GCA425568193SRD5A2c.438T>C (p.Phe146=)
c.216T>C (p.Phe72=)
c.183T>C (p.Phe61=)
2g.31533610A>TCA346598418SRD5A2c.438T>A (p.Phe146Leu)
c.216T>A (p.Phe72Leu)
c.183T>A (p.Phe61Leu)
2g.31533611A>CCA346598419SRD5A2c.437T>G (p.Phe146Cys)
c.215T>G (p.Phe72Cys)
c.182T>G (p.Phe61Cys)
2g.31533611A>GCA346598420SRD5A2c.437T>C (p.Phe146Ser)
c.215T>C (p.Phe72Ser)
c.182T>C (p.Phe61Ser)
2g.31533611A>TCA346598421SRD5A2c.437T>A (p.Phe146Tyr)
c.215T>A (p.Phe72Tyr)
c.182T>A (p.Phe61Tyr)
2g.31533612A>CCA346598422SRD5A2c.436T>G (p.Phe146Val)
c.214T>G (p.Phe72Val)
c.181T>G (p.Phe61Val)
2g.31533612A>GCA346598423SRD5A2c.436T>C (p.Phe146Leu)
c.214T>C (p.Phe72Leu)
c.181T>C (p.Phe61Leu)
2g.31533612A>TCA346598424SRD5A2c.436T>A (p.Phe146Ile)
c.214T>A (p.Phe72Ile)
c.181T>A (p.Phe61Ile)
2g.31533613C>ACA425568200SRD5A2c.435G>T (p.Arg145=)
c.213G>T (p.Arg71=)
c.180G>T (p.Arg60=)
2g.31533613C>GCA425568198SRD5A2c.435G>C (p.Arg145=)
c.213G>C (p.Arg71=)
c.180G>C (p.Arg60=)
2g.31533613C>TCA425568199SRD5A2c.435G>A (p.Arg145=)
c.213G>A (p.Arg71=)
c.180G>A (p.Arg60=)
 gnomAD v4
2g.31533614C>ACA346598426SRD5A2c.434G>T (p.Arg145Leu)
c.212G>T (p.Arg71Leu)
c.179G>T (p.Arg60Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.31533614C=CA1242199311SRD5A2c.434G= (p.Arg145=)
c.212G= (p.Arg71=)
c.179G= (p.Arg60=)
2g.31533614C>GCA346598425SRD5A2c.434G>C (p.Arg145Pro)
c.212G>C (p.Arg71Pro)
c.179G>C (p.Arg60Pro)
2g.31533614C>TCA1599942SRD5A2c.434G>A (p.Arg145Gln)
c.212G>A (p.Arg71Gln)
c.179G>A (p.Arg60Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533615G>ACA1599943SRD5A2c.433C>T (p.Arg145Trp)
c.211C>T (p.Arg71Trp)
c.178C>T (p.Arg60Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533615G>CCA346598427SRD5A2c.433C>G (p.Arg145Gly)
c.211C>G (p.Arg71Gly)
c.178C>G (p.Arg60Gly)
2g.31533615G=CA1242199312SRD5A2c.433C= (p.Arg145=)
c.211C= (p.Arg71=)
c.178C= (p.Arg60=)
2g.31533615G>TCA425568204SRD5A2c.433C>A (p.Arg145=)
c.211C>A (p.Arg71=)
c.178C>A (p.Arg60=)
 dbSNP gnomAD v3 gnomAD v4
2g.31533616T>ACA425568206SRD5A2c.432A>T (p.Ile144=)
c.210A>T (p.Ile70=)
c.177A>T (p.Ile59=)
2g.31533616T>CCA346598428SRD5A2c.432A>G (p.Ile144Met)
c.210A>G (p.Ile70Met)
c.177A>G (p.Ile59Met)
2g.31533616T>GCA425568208SRD5A2c.432A>C (p.Ile144=)
c.210A>C (p.Ile70=)
c.177A>C (p.Ile59=)
2g.31533617A>CCA346598429SRD5A2c.431T>G (p.Ile144Arg)
c.209T>G (p.Ile70Arg)
c.176T>G (p.Ile59Arg)
2g.31533617A>GCA346598430SRD5A2c.431T>C (p.Ile144Thr)
c.209T>C (p.Ile70Thr)
c.176T>C (p.Ile59Thr)
2g.31533617A>TCA346598431SRD5A2c.431T>A (p.Ile144Lys)
c.209T>A (p.Ile70Lys)
c.176T>A (p.Ile59Lys)
2g.31533617dupCA2576929420SRD5A2c.431dup (p.Arg145ThrfsTer3)
c.209dup (p.Arg71ThrfsTer3)
c.176dup (p.Arg60ThrfsTer3)
 ClinVar
2g.31533618T>ACA346598432SRD5A2c.430A>T (p.Ile144Leu)
c.208A>T (p.Ile70Leu)
c.175A>T (p.Ile59Leu)
 gnomAD v4
2g.31533618T>CCA346598434SRD5A2c.430A>G (p.Ile144Val)
c.208A>G (p.Ile70Val)
c.175A>G (p.Ile59Val)
 gnomAD v4
2g.31533618T>GCA346598433SRD5A2c.430A>C (p.Ile144Leu)
c.208A>C (p.Ile70Leu)
c.175A>C (p.Ile59Leu)
2g.31533619G>ACA425568215SRD5A2c.429C>T (p.Asp143=)
c.207C>T (p.Asp69=)
c.174C>T (p.Asp58=)
2g.31533619G>CCA346598435SRD5A2c.429C>G (p.Asp143Glu)
c.207C>G (p.Asp69Glu)
c.174C>G (p.Asp58Glu)
2g.31533619G>TCA346598436SRD5A2c.429C>A (p.Asp143Glu)
c.207C>A (p.Asp69Glu)
c.174C>A (p.Asp58Glu)
2g.31533620T>ACA1599944SRD5A2c.428A>T (p.Asp143Val)
c.206A>T (p.Asp69Val)
c.173A>T (p.Asp58Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533620T>CCA346598437SRD5A2c.428A>G (p.Asp143Gly)
c.206A>G (p.Asp69Gly)
c.173A>G (p.Asp58Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.31533620T>GCA346598438SRD5A2c.428A>C (p.Asp143Ala)
c.206A>C (p.Asp69Ala)
c.173A>C (p.Asp58Ala)
2g.31533620T=CA1242199313SRD5A2c.428A= (p.Asp143=)
c.206A= (p.Asp69=)
c.173A= (p.Asp58=)
2g.31533621C>ACA346598439SRD5A2c.427G>T (p.Asp143Tyr)
c.205G>T (p.Asp69Tyr)
c.172G>T (p.Asp58Tyr)
2g.31533621C=CA1242199314SRD5A2c.427G= (p.Asp143=)
c.205G= (p.Asp69=)
c.172G= (p.Asp58=)
2g.31533621C>GCA346598440SRD5A2c.427G>C (p.Asp143His)
c.205G>C (p.Asp69His)
c.172G>C (p.Asp58His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533621C>TCA346598441SRD5A2c.427G>A (p.Asp143Asn)
c.205G>A (p.Asp69Asn)
c.172G>A (p.Asp58Asn)
2g.31533622T>ACA425568220SRD5A2c.426A>T (p.Thr142=)
c.204A>T (p.Thr68=)
c.171A>T (p.Thr57=)
2g.31533622T>CCA425568221SRD5A2c.426A>G (p.Thr142=)
c.204A>G (p.Thr68=)
c.171A>G (p.Thr57=)
2g.31533622T>GCA425568222SRD5A2c.426A>C (p.Thr142=)
c.204A>C (p.Thr68=)
c.171A>C (p.Thr57=)
2g.31533623G>ACA1599945SRD5A2c.425C>T (p.Thr142Ile)
c.203C>T (p.Thr68Ile)
c.170C>T (p.Thr57Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533623G>CCA45136777SRD5A2c.425C>G (p.Thr142Arg)
c.203C>G (p.Thr68Arg)
c.170C>G (p.Thr57Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.31533623G=CA1242199315SRD5A2c.425C= (p.Thr142=)
c.203C= (p.Thr68=)
c.170C= (p.Thr57=)
2g.31533623G>TCA346598442SRD5A2c.425C>A (p.Thr142Lys)
c.203C>A (p.Thr68Lys)
c.170C>A (p.Thr57Lys)
2g.31533624T>ACA346598443SRD5A2c.424A>T (p.Thr142Ser)
c.202A>T (p.Thr68Ser)
c.169A>T (p.Thr57Ser)
2g.31533624T>CCA346598445SRD5A2c.424A>G (p.Thr142Ala)
c.202A>G (p.Thr68Ala)
c.169A>G (p.Thr57Ala)
2g.31533624T>GCA346598444SRD5A2c.424A>C (p.Thr142Pro)
c.202A>C (p.Thr68Pro)
c.169A>C (p.Thr57Pro)
2g.31533625G>ACA425568227SRD5A2c.423C>T (p.Tyr141=)
c.201C>T (p.Tyr67=)
c.168C>T (p.Tyr56=)
 gnomAD v4
2g.31533625G>CCA346598446SRD5A2c.423C>G (p.Tyr141Ter)
c.201C>G (p.Tyr67Ter)
c.168C>G (p.Tyr56Ter)
2g.31533625G>TCA346598447SRD5A2c.423C>A (p.Tyr141Ter)
c.201C>A (p.Tyr67Ter)
c.168C>A (p.Tyr56Ter)
 gnomAD v4
2g.31533626T>ACA346598448SRD5A2c.422A>T (p.Tyr141Phe)
c.200A>T (p.Tyr67Phe)
c.167A>T (p.Tyr56Phe)
2g.31533626T>CCA346598449SRD5A2c.422A>G (p.Tyr141Cys)
c.200A>G (p.Tyr67Cys)
c.167A>G (p.Tyr56Cys)
2g.31533626T>GCA346598450SRD5A2c.422A>C (p.Tyr141Ser)
c.200A>C (p.Tyr67Ser)
c.167A>C (p.Tyr56Ser)
2g.31533626_31533627insGCA2658499157SRD5A2c.421_422insC (p.Tyr141SerfsTer7)
c.199_200insC (p.Tyr67SerfsTer7)
c.166_167insC (p.Tyr56SerfsTer7)
 gnomAD v4
2g.31533627A=CA1242199316SRD5A2c.421T= (p.Tyr141=)
c.199T= (p.Tyr67=)
c.166T= (p.Tyr56=)
2g.31533627A>CCA346598451SRD5A2c.421T>G (p.Tyr141Asp)
c.199T>G (p.Tyr67Asp)
c.166T>G (p.Tyr56Asp)
2g.31533627A>GCA346598452SRD5A2c.421T>C (p.Tyr141His)
c.199T>C (p.Tyr67His)
c.166T>C (p.Tyr56His)
 dbSNP gnomAD v2 gnomAD v4
2g.31533627A>TCA346598453SRD5A2c.421T>A (p.Tyr141Asn)
c.199T>A (p.Tyr67Asn)
c.166T>A (p.Tyr56Asn)
2g.31533627_31533629delinsGAATCA2586969031SRD5A2c.419_421delinsATTC (p.Trp140TyrfsTer8)
c.197_199delinsATTC (p.Trp66TyrfsTer8)
c.164_166delinsATTC (p.Trp55TyrfsTer8)
2g.31533628C>ACA1599946SRD5A2c.420G>T (p.Trp140Cys)
c.198G>T (p.Trp66Cys)
c.165G>T (p.Trp55Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533628C=CA1242199317SRD5A2c.420G= (p.Trp140=)
c.198G= (p.Trp66=)
c.165G= (p.Trp55=)
2g.31533628C>GCA346598454SRD5A2c.420G>C (p.Trp140Cys)
c.198G>C (p.Trp66Cys)
c.165G>C (p.Trp55Cys)
2g.31533628C>TCA346598455SRD5A2c.420G>A (p.Trp140Ter)
c.198G>A (p.Trp66Ter)
c.165G>A (p.Trp55Ter)
 dbSNP
2g.31533629C>ACA346598458SRD5A2c.419G>T (p.Trp140Leu)
c.197G>T (p.Trp66Leu)
c.164G>T (p.Trp55Leu)
2g.31533629C>GCA346598457SRD5A2c.419G>C (p.Trp140Ser)
c.197G>C (p.Trp66Ser)
c.164G>C (p.Trp55Ser)
2g.31533629C>TCA346598456SRD5A2c.419G>A (p.Trp140Ter)
c.197G>A (p.Trp66Ter)
c.164G>A (p.Trp55Ter)
 gnomAD v4
2g.31533629_31533630delinsCACA1242199318SRD5A2c.418_419delinsTG (p.Trp140=)
c.196_197delinsTG (p.Trp66=)
c.163_164delinsTG (p.Trp55=)
2g.31533630delCA767761623SRD5A2c.418del (p.Trp140GlyfsTer20)
c.418del (p.Trp140GlyfsTer?)
c.196del (p.Trp66GlyfsTer20)
c.163del (p.Trp55GlyfsTer20)
 ClinVar dbSNP
2g.31533630A>CCA346598459SRD5A2c.418T>G (p.Trp140Gly)
c.196T>G (p.Trp66Gly)
c.163T>G (p.Trp55Gly)
2g.31533630A>GCA346598460SRD5A2c.418T>C (p.Trp140Arg)
c.196T>C (p.Trp66Arg)
c.163T>C (p.Trp55Arg)
2g.31533630A>TCA346598461SRD5A2c.418T>A (p.Trp140Arg)
c.196T>A (p.Trp66Arg)
c.163T>A (p.Trp55Arg)
2g.31533631C>ACA425568237SRD5A2c.417G>T (p.Gly139=)
c.195G>T (p.Gly65=)
c.162G>T (p.Gly54=)
2g.31533631C>GCA425568239SRD5A2c.417G>C (p.Gly139=)
c.195G>C (p.Gly65=)
c.162G>C (p.Gly54=)
2g.31533631C>TCA425568240SRD5A2c.417G>A (p.Gly139=)
c.195G>A (p.Gly65=)
c.162G>A (p.Gly54=)
 gnomAD v4
2g.31533632C>ACA346598462SRD5A2c.416G>T (p.Gly139Val)
c.194G>T (p.Gly65Val)
c.161G>T (p.Gly54Val)
2g.31533632C>GCA346598463SRD5A2c.416G>C (p.Gly139Ala)
c.194G>C (p.Gly65Ala)
c.161G>C (p.Gly54Ala)
2g.31533632C>TCA346598464SRD5A2c.416G>A (p.Gly139Glu)
c.194G>A (p.Gly65Glu)
c.161G>A (p.Gly54Glu)
2g.31533633C>ACA346598465SRD5A2c.415G>T (p.Gly139Trp)
c.193G>T (p.Gly65Trp)
c.160G>T (p.Gly54Trp)
 gnomAD v4
2g.31533633C>GCA346598466SRD5A2c.415G>C (p.Gly139Arg)
c.193G>C (p.Gly65Arg)
c.160G>C (p.Gly54Arg)
2g.31533633C>TCA346598467SRD5A2c.415G>A (p.Gly139Arg)
c.193G>A (p.Gly65Arg)
c.160G>A (p.Gly54Arg)
2g.31533634A>CCA346598468SRD5A2c.414T>G (p.Asp138Glu)
c.192T>G (p.Asp64Glu)
c.159T>G (p.Asp53Glu)
2g.31533634A>GCA425568245SRD5A2c.414T>C (p.Asp138=)
c.192T>C (p.Asp64=)
c.159T>C (p.Asp53=)
 gnomAD v4
2g.31533634A>TCA346598469SRD5A2c.414T>A (p.Asp138Glu)
c.192T>A (p.Asp64Glu)
c.159T>A (p.Asp53Glu)
2g.31533635T>ACA346598472SRD5A2c.413A>T (p.Asp138Val)
c.191A>T (p.Asp64Val)
c.158A>T (p.Asp53Val)
 dbSNP
2g.31533635T>CCA346598471SRD5A2c.413A>G (p.Asp138Gly)
c.191A>G (p.Asp64Gly)
c.158A>G (p.Asp53Gly)
2g.31533635T>GCA346598470SRD5A2c.413A>C (p.Asp138Ala)
c.191A>C (p.Asp64Ala)
c.158A>C (p.Asp53Ala)
2g.31533635T=CA1242199319SRD5A2c.413A= (p.Asp138=)
c.191A= (p.Asp64=)
c.158A= (p.Asp53=)
2g.31533636C>ACA346598473SRD5A2c.412G>T (p.Asp138Tyr)
c.190G>T (p.Asp64Tyr)
c.157G>T (p.Asp53Tyr)
2g.31533636C>GCA346598475SRD5A2c.412G>C (p.Asp138His)
c.190G>C (p.Asp64His)
c.157G>C (p.Asp53His)
2g.31533636C>TCA346598474SRD5A2c.412G>A (p.Asp138Asn)
c.190G>A (p.Asp64Asn)
c.157G>A (p.Asp53Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.31533637A>CCA425568250SRD5A2c.411T>G (p.Pro137=)
c.189T>G (p.Pro63=)
c.156T>G (p.Pro52=)
2g.31533637A>GCA425568252SRD5A2c.411T>C (p.Pro137=)
c.189T>C (p.Pro63=)
c.156T>C (p.Pro52=)
2g.31533637A>TCA425568253SRD5A2c.411T>A (p.Pro137=)
c.189T>A (p.Pro63=)
c.156T>A (p.Pro52=)
2g.31533638G>ACA346598476SRD5A2c.410C>T (p.Pro137Leu)
c.188C>T (p.Pro63Leu)
c.155C>T (p.Pro52Leu)
2g.31533638G>CCA346598477SRD5A2c.410C>G (p.Pro137Arg)
c.188C>G (p.Pro63Arg)
c.155C>G (p.Pro52Arg)
2g.31533638G>TCA346598478SRD5A2c.410C>A (p.Pro137His)
c.188C>A (p.Pro63His)
c.155C>A (p.Pro52His)
2g.31533639G>ACA346598479SRD5A2c.409C>T (p.Pro137Ser)
c.187C>T (p.Pro63Ser)
c.154C>T (p.Pro52Ser)
2g.31533639G>CCA346598480SRD5A2c.409C>G (p.Pro137Ala)
c.187C>G (p.Pro63Ala)
c.154C>G (p.Pro52Ala)
2g.31533639G>TCA346598481SRD5A2c.409C>A (p.Pro137Thr)
c.187C>A (p.Pro63Thr)
c.154C>A (p.Pro52Thr)
2g.31533640G>ACA425568258SRD5A2c.408C>T (p.Tyr136=)
c.186C>T (p.Tyr62=)
c.153C>T (p.Tyr51=)
 ClinVar gnomAD v4
2g.31533640G>CCA346598482SRD5A2c.408C>G (p.Tyr136Ter)
c.186C>G (p.Tyr62Ter)
c.153C>G (p.Tyr51Ter)
 gnomAD v4
2g.31533640G=CA1242199320SRD5A2c.408C= (p.Tyr136=)
c.186C= (p.Tyr62=)
c.153C= (p.Tyr51=)
2g.31533640G>TCA346598483SRD5A2c.408C>A (p.Tyr136Ter)
c.186C>A (p.Tyr62Ter)
c.153C>A (p.Tyr51Ter)
 dbSNP
2g.31533641T>ACA346598484SRD5A2c.407A>T (p.Tyr136Phe)
c.185A>T (p.Tyr62Phe)
c.152A>T (p.Tyr51Phe)
2g.31533641T>CCA346598485SRD5A2c.407A>G (p.Tyr136Cys)
c.185A>G (p.Tyr62Cys)
c.152A>G (p.Tyr51Cys)
2g.31533641T>GCA346598486SRD5A2c.407A>C (p.Tyr136Ser)
c.185A>C (p.Tyr62Ser)
c.152A>C (p.Tyr51Ser)
2g.31533642A>CCA346598489SRD5A2c.406T>G (p.Tyr136Asp)
c.184T>G (p.Tyr62Asp)
c.151T>G (p.Tyr51Asp)
2g.31533642A>GCA346598488SRD5A2c.406T>C (p.Tyr136His)
c.184T>C (p.Tyr62His)
c.151T>C (p.Tyr51His)
2g.31533642A>TCA346598487SRD5A2c.406T>A (p.Tyr136Asn)
c.184T>A (p.Tyr62Asn)
c.151T>A (p.Tyr51Asn)
2g.31533643T>ACA346598490SRD5A2c.405A>T (p.Glu135Asp)
c.183A>T (p.Glu61Asp)
c.150A>T (p.Glu50Asp)
2g.31533643T>CCA425568264SRD5A2c.405A>G (p.Glu135=)
c.183A>G (p.Glu61=)
c.150A>G (p.Glu50=)
2g.31533643T>GCA346598491SRD5A2c.405A>C (p.Glu135Asp)
c.183A>C (p.Glu61Asp)
c.150A>C (p.Glu50Asp)
2g.31533644T>ACA346598492SRD5A2c.404A>T (p.Glu135Val)
c.182A>T (p.Glu61Val)
c.149A>T (p.Glu50Val)
2g.31533644T>CCA346598493SRD5A2c.404A>G (p.Glu135Gly)
c.182A>G (p.Glu61Gly)
c.149A>G (p.Glu50Gly)
2g.31533644T>GCA346598494SRD5A2c.404A>C (p.Glu135Ala)
c.182A>C (p.Glu61Ala)
c.149A>C (p.Glu50Ala)
2g.31533645C>ACA346598495SRD5A2c.403G>T (p.Glu135Ter)
c.181G>T (p.Glu61Ter)
c.148G>T (p.Glu50Ter)
2g.31533645C>GCA346598496SRD5A2c.403G>C (p.Glu135Gln)
c.181G>C (p.Glu61Gln)
c.148G>C (p.Glu50Gln)
2g.31533645C>TCA346598497SRD5A2c.403G>A (p.Glu135Lys)
c.181G>A (p.Glu61Lys)
c.148G>A (p.Glu50Lys)
 ClinVar gnomAD v4
2g.31533646A=CA1242199321SRD5A2c.402T= (p.Ala134=)
c.180T= (p.Ala60=)
c.147T= (p.Ala49=)
2g.31533646A>CCA425568269SRD5A2c.402T>G (p.Ala134=)
c.180T>G (p.Ala60=)
c.147T>G (p.Ala49=)
2g.31533646A>GCA425568271SRD5A2c.402T>C (p.Ala134=)
c.180T>C (p.Ala60=)
c.147T>C (p.Ala49=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533646A>TCA425568272SRD5A2c.402T>A (p.Ala134=)
c.180T>A (p.Ala60=)
c.147T>A (p.Ala49=)
2g.31533647G>ACA346598498SRD5A2c.401C>T (p.Ala134Val)
c.179C>T (p.Ala60Val)
c.146C>T (p.Ala49Val)
 gnomAD v4
2g.31533647G>CCA346598499SRD5A2c.401C>G (p.Ala134Gly)
c.179C>G (p.Ala60Gly)
c.146C>G (p.Ala49Gly)
2g.31533647G>TCA346598500SRD5A2c.401C>A (p.Ala134Asp)
c.179C>A (p.Ala60Asp)
c.146C>A (p.Ala49Asp)
2g.31533648C>ACA346598503SRD5A2c.400G>T (p.Ala134Ser)
c.178G>T (p.Ala60Ser)
c.145G>T (p.Ala49Ser)
 gnomAD v4
2g.31533648C>GCA346598502SRD5A2c.400G>C (p.Ala134Pro)
c.178G>C (p.Ala60Pro)
c.145G>C (p.Ala49Pro)
2g.31533648C>TCA346598501SRD5A2c.400G>A (p.Ala134Thr)
c.178G>A (p.Ala60Thr)
c.145G>A (p.Ala49Thr)
2g.31533649A>CCA346598504SRD5A2c.399T>G (p.Cys133Trp)
c.177T>G (p.Cys59Trp)
c.144T>G (p.Cys48Trp)
2g.31533649A>GCA425568278SRD5A2c.399T>C (p.Cys133=)
c.177T>C (p.Cys59=)
c.144T>C (p.Cys48=)
 gnomAD v4
2g.31533649A>TCA346598505SRD5A2c.399T>A (p.Cys133Ter)
c.177T>A (p.Cys59Ter)
c.144T>A (p.Cys48Ter)
2g.31533650C>ACA1599948SRD5A2c.398G>T (p.Cys133Phe)
c.176G>T (p.Cys59Phe)
c.143G>T (p.Cys48Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533650C=CA1242199322SRD5A2c.398G= (p.Cys133=)
c.176G= (p.Cys59=)
c.143G= (p.Cys48=)
2g.31533650C>GCA346598506SRD5A2c.398G>C (p.Cys133Ser)
c.176G>C (p.Cys59Ser)
c.143G>C (p.Cys48Ser)
2g.31533650C>TCA1599947SRD5A2c.398G>A (p.Cys133Tyr)
c.176G>A (p.Cys59Tyr)
c.143G>A (p.Cys48Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533651A>CCA346598507SRD5A2c.397T>G (p.Cys133Gly)
c.175T>G (p.Cys59Gly)
c.142T>G (p.Cys48Gly)
 gnomAD v4
2g.31533651A>GCA346598508SRD5A2c.397T>C (p.Cys133Arg)
c.175T>C (p.Cys59Arg)
c.142T>C (p.Cys48Arg)
 gnomAD v4
2g.31533651A>TCA346598509SRD5A2c.397T>A (p.Cys133Ser)
c.175T>A (p.Cys59Ser)
c.142T>A (p.Cys48Ser)
2g.31533652G>ACA425568283SRD5A2c.396C>T (p.Tyr132=)
c.174C>T (p.Tyr58=)
c.141C>T (p.Tyr47=)
 dbSNP gnomAD v2 gnomAD v4
2g.31533652G>CCA346598510SRD5A2c.396C>G (p.Tyr132Ter)
c.174C>G (p.Tyr58Ter)
c.141C>G (p.Tyr47Ter)
2g.31533652G=CA1242199323SRD5A2c.396C= (p.Tyr132=)
c.174C= (p.Tyr58=)
c.141C= (p.Tyr47=)
2g.31533652G>TCA346598511SRD5A2c.396C>A (p.Tyr132Ter)
c.174C>A (p.Tyr58Ter)
c.141C>A (p.Tyr47Ter)
2g.31533653T>ACA346598512SRD5A2c.395A>T (p.Tyr132Phe)
c.173A>T (p.Tyr58Phe)
c.140A>T (p.Tyr47Phe)
2g.31533653T>CCA346598513SRD5A2c.395A>G (p.Tyr132Cys)
c.173A>G (p.Tyr58Cys)
c.140A>G (p.Tyr47Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.31533653T>GCA346598514SRD5A2c.395A>C (p.Tyr132Ser)
c.173A>C (p.Tyr58Ser)
c.140A>C (p.Tyr47Ser)
2g.31533653T=CA1242199324SRD5A2c.395A= (p.Tyr132=)
c.173A= (p.Tyr58=)
c.140A= (p.Tyr47=)
2g.31533654A>CCA346598517SRD5A2c.394T>G (p.Tyr132Asp)
c.172T>G (p.Tyr58Asp)
c.139T>G (p.Tyr47Asp)
2g.31533654A>GCA346598515SRD5A2c.394T>C (p.Tyr132His)
c.172T>C (p.Tyr58His)
c.139T>C (p.Tyr47His)
2g.31533654A>TCA346598516SRD5A2c.394T>A (p.Tyr132Asn)
c.172T>A (p.Tyr58Asn)
c.139T>A (p.Tyr47Asn)
2g.31533655A>CCA346598518SRD5A2c.393T>G (p.Ile131Met)
c.171T>G (p.Ile57Met)
c.138T>G (p.Ile46Met)
2g.31533655A>GCA425568290SRD5A2c.393T>C (p.Ile131=)
c.171T>C (p.Ile57=)
c.138T>C (p.Ile46=)
2g.31533655A>TCA425568291SRD5A2c.393T>A (p.Ile131=)
c.171T>A (p.Ile57=)
c.138T>A (p.Ile46=)
2g.31533656A>CCA346598519SRD5A2c.392T>G (p.Ile131Ser)
c.170T>G (p.Ile57Ser)
c.137T>G (p.Ile46Ser)
2g.31533656A>GCA346598520SRD5A2c.392T>C (p.Ile131Thr)
c.170T>C (p.Ile57Thr)
c.137T>C (p.Ile46Thr)
2g.31533656A>TCA346598521SRD5A2c.392T>A (p.Ile131Asn)
c.170T>A (p.Ile57Asn)
c.137T>A (p.Ile46Asn)
2g.31533657T>ACA346598522SRD5A2c.391A>T (p.Ile131Phe)
c.169A>T (p.Ile57Phe)
c.136A>T (p.Ile46Phe)
2g.31533657T>CCA346598523SRD5A2c.391A>G (p.Ile131Val)
c.169A>G (p.Ile57Val)
c.136A>G (p.Ile46Val)
2g.31533657T>GCA346598524SRD5A2c.391A>C (p.Ile131Leu)
c.169A>C (p.Ile57Leu)
c.136A>C (p.Ile46Leu)
2g.31533658C>ACA425568297SRD5A2c.390G>T (p.Leu130=)
c.168G>T (p.Leu56=)
c.135G>T (p.Leu45=)
2g.31533658C>GCA425568298SRD5A2c.390G>C (p.Leu130=)
c.168G>C (p.Leu56=)
c.135G>C (p.Leu45=)
 gnomAD v4
2g.31533658C>TCA425568300SRD5A2c.390G>A (p.Leu130=)
c.168G>A (p.Leu56=)
c.135G>A (p.Leu45=)
2g.31533658_31533673delinsCAGATAGTAGCCTTGACA1242199325SRD5A2c.375_390delinsTCAAGGCTACTATCTG (p.Leu125=)
c.153_168delinsTCAAGGCTACTATCTG (p.Leu51=)
c.120_135delinsTCAAGGCTACTATCTG (p.Leu40=)
2g.31533659A>CCA346598525SRD5A2c.389T>G (p.Leu130Arg)
c.167T>G (p.Leu56Arg)
c.134T>G (p.Leu45Arg)
2g.31533659A>GCA346598526SRD5A2c.389T>C (p.Leu130Pro)
c.167T>C (p.Leu56Pro)
c.134T>C (p.Leu45Pro)
2g.31533659A>TCA346598527SRD5A2c.389T>A (p.Leu130Gln)
c.167T>A (p.Leu56Gln)
c.134T>A (p.Leu45Gln)
2g.31533661_31533675delCA1242199326SRD5A2c.375_389del (p.Gln126_Leu130del)
c.153_167del (p.Gln52_Leu56del)
c.120_134del (p.Gln41_Leu45del)
 dbSNP
2g.31533660G>ACA425568303SRD5A2c.388C>T (p.Leu130=)
c.166C>T (p.Leu56=)
c.133C>T (p.Leu45=)
2g.31533660G>CCA1599949SRD5A2c.388C>G (p.Leu130Val)
c.166C>G (p.Leu56Val)
c.133C>G (p.Leu45Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533660G=CA1242199327SRD5A2c.388C= (p.Leu130=)
c.166C= (p.Leu56=)
c.133C= (p.Leu45=)
2g.31533660G>TCA346598528SRD5A2c.388C>A (p.Leu130Met)
c.166C>A (p.Leu56Met)
c.133C>A (p.Leu45Met)
 gnomAD v4
2g.31533661A>CCA346598530SRD5A2c.387T>G (p.Tyr129Ter)
c.165T>G (p.Tyr55Ter)
c.132T>G (p.Tyr44Ter)
2g.31533661A>GCA425568306SRD5A2c.387T>C (p.Tyr129=)
c.165T>C (p.Tyr55=)
c.132T>C (p.Tyr44=)
2g.31533661A>TCA346598529SRD5A2c.387T>A (p.Tyr129Ter)
c.165T>A (p.Tyr55Ter)
c.132T>A (p.Tyr44Ter)
2g.31533662T>ACA346598531SRD5A2c.386A>T (p.Tyr129Phe)
c.164A>T (p.Tyr55Phe)
c.131A>T (p.Tyr44Phe)
2g.31533662T>CCA1599950SRD5A2c.386A>G (p.Tyr129Cys)
c.164A>G (p.Tyr55Cys)
c.131A>G (p.Tyr44Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533662T>GCA45136778SRD5A2c.386A>C (p.Tyr129Ser)
c.164A>C (p.Tyr55Ser)
c.131A>C (p.Tyr44Ser)
 dbSNP gnomAD v4
2g.31533662T=CA1242199328SRD5A2c.386A= (p.Tyr129=)
c.164A= (p.Tyr55=)
c.131A= (p.Tyr44=)
2g.31533663A=CA1242199329SRD5A2c.385T= (p.Tyr129=)
c.163T= (p.Tyr55=)
c.130T= (p.Tyr44=)
2g.31533663A>CCA346598532SRD5A2c.385T>G (p.Tyr129Asp)
c.163T>G (p.Tyr55Asp)
c.130T>G (p.Tyr44Asp)
 ClinVar dbSNP
2g.31533663A>GCA346598533SRD5A2c.385T>C (p.Tyr129His)
c.163T>C (p.Tyr55His)
c.130T>C (p.Tyr44His)
2g.31533663A>TCA346598534SRD5A2c.385T>A (p.Tyr129Asn)
c.163T>A (p.Tyr55Asn)
c.130T>A (p.Tyr44Asn)
 COSMIC
2g.31533664G>ACA425568311SRD5A2c.384C>T (p.Tyr128=)
c.162C>T (p.Tyr54=)
c.129C>T (p.Tyr43=)
2g.31533664G>CCA346598535SRD5A2c.384C>G (p.Tyr128Ter)
c.162C>G (p.Tyr54Ter)
c.129C>G (p.Tyr43Ter)
 ClinVar dbSNP
2g.31533664G=CA1242199330SRD5A2c.384C= (p.Tyr128=)
c.162C= (p.Tyr54=)
c.129C= (p.Tyr43=)
2g.31533664G>TCA346598536SRD5A2c.384C>A (p.Tyr128Ter)
c.162C>A (p.Tyr54Ter)
c.129C>A (p.Tyr43Ter)
 gnomAD v4
2g.31533664_31533665delinsTCCA2580066367SRD5A2c.383_384delinsGA (p.Tyr128Ter)
c.161_162delinsGA (p.Tyr54Ter)
c.128_129delinsGA (p.Tyr43Ter)
 ClinVar
2g.31533664_31533672delCA2749375123SRD5A2c.376_384del (p.Gln126_Tyr128del)
c.154_162del (p.Gln52_Tyr54del)
c.121_129del (p.Gln41_Tyr43del)
2g.31533665T>ACA346598537SRD5A2c.383A>T (p.Tyr128Phe)
c.161A>T (p.Tyr54Phe)
c.128A>T (p.Tyr43Phe)
2g.31533665T>CCA1599951SRD5A2c.383A>G (p.Tyr128Cys)
c.161A>G (p.Tyr54Cys)
c.128A>G (p.Tyr43Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533665T>GCA346598538SRD5A2c.383A>C (p.Tyr128Ser)
c.161A>C (p.Tyr54Ser)
c.128A>C (p.Tyr43Ser)
2g.31533665T=CA1242199331SRD5A2c.383A= (p.Tyr128=)
c.161A= (p.Tyr54=)
c.128A= (p.Tyr43=)
2g.31533666A>CCA346598539SRD5A2c.382T>G (p.Tyr128Asp)
c.160T>G (p.Tyr54Asp)
c.127T>G (p.Tyr43Asp)
2g.31533666A>GCA346598540SRD5A2c.382T>C (p.Tyr128His)
c.160T>C (p.Tyr54His)
c.127T>C (p.Tyr43His)
2g.31533666A>TCA346598541SRD5A2c.382T>A (p.Tyr128Asn)
c.160T>A (p.Tyr54Asn)
c.127T>A (p.Tyr43Asn)
 ClinVar
2g.31533667G>ACA425568320SRD5A2c.381C>T (p.Gly127=)
c.159C>T (p.Gly53=)
c.126C>T (p.Gly42=)
2g.31533667G>CCA425568318SRD5A2c.381C>G (p.Gly127=)
c.159C>G (p.Gly53=)
c.126C>G (p.Gly42=)
2g.31533667G>TCA425568317SRD5A2c.381C>A (p.Gly127=)
c.159C>A (p.Gly53=)
c.126C>A (p.Gly42=)
 gnomAD v4
2g.31533668C>ACA346598544SRD5A2c.380G>T (p.Gly127Val)
c.158G>T (p.Gly53Val)
c.125G>T (p.Gly42Val)
 gnomAD v4
2g.31533668C>GCA346598543SRD5A2c.380G>C (p.Gly127Ala)
c.158G>C (p.Gly53Ala)
c.125G>C (p.Gly42Ala)
2g.31533668C>TCA346598542SRD5A2c.380G>A (p.Gly127Asp)
c.158G>A (p.Gly53Asp)
c.125G>A (p.Gly42Asp)
 COSMIC
2g.31533669C>ACA346598545SRD5A2c.379G>T (p.Gly127Cys)
c.157G>T (p.Gly53Cys)
c.124G>T (p.Gly42Cys)
 gnomAD v4
2g.31533669C>GCA346598546SRD5A2c.379G>C (p.Gly127Arg)
c.157G>C (p.Gly53Arg)
c.124G>C (p.Gly42Arg)
2g.31533669C>TCA346598547SRD5A2c.379G>A (p.Gly127Ser)
c.157G>A (p.Gly53Ser)
c.124G>A (p.Gly42Ser)
 COSMIC
2g.31533670T>ACA346598548SRD5A2c.378A>T (p.Gln126His)
c.156A>T (p.Gln52His)
c.123A>T (p.Gln41His)
2g.31533670T>CCA425568325SRD5A2c.378A>G (p.Gln126=)
c.156A>G (p.Gln52=)
c.123A>G (p.Gln41=)
2g.31533670T>GCA346598549SRD5A2c.378A>C (p.Gln126His)
c.156A>C (p.Gln52His)
c.123A>C (p.Gln41His)
2g.31533671T>ACA346598550SRD5A2c.377A>T (p.Gln126Leu)
c.155A>T (p.Gln52Leu)
c.122A>T (p.Gln41Leu)
2g.31533671T>CCA1599952SRD5A2c.377A>G (p.Gln126Arg)
c.155A>G (p.Gln52Arg)
c.122A>G (p.Gln41Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533671T>GCA346598551SRD5A2c.377A>C (p.Gln126Pro)
c.155A>C (p.Gln52Pro)
c.122A>C (p.Gln41Pro)
2g.31533671T=CA1242199332SRD5A2c.377A= (p.Gln126=)
c.155A= (p.Gln52=)
c.122A= (p.Gln41=)
2g.31533672G>ACA346598552SRD5A2c.376C>T (p.Gln126Ter)
c.154C>T (p.Gln52Ter)
c.121C>T (p.Gln41Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.31533672G>CCA346598553SRD5A2c.376C>G (p.Gln126Glu)
c.154C>G (p.Gln52Glu)
c.121C>G (p.Gln41Glu)
2g.31533672G=CA1242199333SRD5A2c.376C= (p.Gln126=)
c.154C= (p.Gln52=)
c.121C= (p.Gln41=)
2g.31533672G>TCA346598554SRD5A2c.376C>A (p.Gln126Lys)
c.154C>A (p.Gln52Lys)
c.121C>A (p.Gln41Lys)
 gnomAD v4
2g.31533673A>CCA425568330SRD5A2c.375T>G (p.Leu125=)
c.153T>G (p.Leu51=)
c.120T>G (p.Leu40=)
2g.31533673A>GCA425568332SRD5A2c.375T>C (p.Leu125=)
c.153T>C (p.Leu51=)
c.120T>C (p.Leu40=)
2g.31533673A>TCA425568331SRD5A2c.375T>A (p.Leu125=)
c.153T>A (p.Leu51=)
c.120T>A (p.Leu40=)
2g.31533674A>CCA346598555SRD5A2c.374T>G (p.Leu125Arg)
c.152T>G (p.Leu51Arg)
c.119T>G (p.Leu40Arg)
2g.31533674A>GCA346598556SRD5A2c.374T>C (p.Leu125Pro)
c.152T>C (p.Leu51Pro)
c.119T>C (p.Leu40Pro)
 gnomAD v4
2g.31533674A>TCA346598557SRD5A2c.374T>A (p.Leu125His)
c.152T>A (p.Leu51His)
c.119T>A (p.Leu40His)
2g.31533675G>ACA346598559SRD5A2c.373C>T (p.Leu125Phe)
c.151C>T (p.Leu51Phe)
c.118C>T (p.Leu40Phe)
2g.31533675G>CCA346598560SRD5A2c.373C>G (p.Leu125Val)
c.151C>G (p.Leu51Val)
c.118C>G (p.Leu40Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533675G=CA1242199334SRD5A2c.373C= (p.Leu125=)
c.151C= (p.Leu51=)
c.118C= (p.Leu40=)
2g.31533675G>TCA346598558SRD5A2c.373C>A (p.Leu125Ile)
c.151C>A (p.Leu51Ile)
c.118C>A (p.Leu40Ile)
 gnomAD v4
2g.31533676delCA2658499248SRD5A2c.373del (p.Leu125PhefsTer6)
c.151del (p.Leu51PhefsTer6)
c.118del (p.Leu40PhefsTer6)
 gnomAD v4
2g.31533676G>ACA425568337SRD5A2c.372C>T (p.Val124=)
c.150C>T (p.Val50=)
c.117C>T (p.Val39=)
 dbSNP
2g.31533676G>CCA425568338SRD5A2c.372C>G (p.Val124=)
c.150C>G (p.Val50=)
c.117C>G (p.Val39=)
2g.31533676G=CA1242199335SRD5A2c.372C= (p.Val124=)
c.150C= (p.Val50=)
c.117C= (p.Val39=)
2g.31533676G>TCA425568340SRD5A2c.372C>A (p.Val124=)
c.150C>A (p.Val50=)
c.117C>A (p.Val39=)
2g.31533677A=CA1242199336SRD5A2c.371T= (p.Val124=)
c.149T= (p.Val50=)
c.116T= (p.Val39=)
2g.31533677A>CCA346598561SRD5A2c.371T>G (p.Val124Gly)
c.149T>G (p.Val50Gly)
c.116T>G (p.Val39Gly)
2g.31533677A>GCA346598562SRD5A2c.371T>C (p.Val124Ala)
c.149T>C (p.Val50Ala)
c.116T>C (p.Val39Ala)
2g.31533677A>TCA346598563SRD5A2c.371T>A (p.Val124Asp)
c.149T>A (p.Val50Asp)
c.116T>A (p.Val39Asp)
 dbSNP gnomAD v4
2g.31533678C>ACA346598564SRD5A2c.370G>T (p.Val124Phe)
c.148G>T (p.Val50Phe)
c.115G>T (p.Val39Phe)
 gnomAD v4
2g.31533678C>GCA346598565SRD5A2c.370G>C (p.Val124Leu)
c.148G>C (p.Val50Leu)
c.115G>C (p.Val39Leu)
2g.31533678C>TCA346598566SRD5A2c.370G>A (p.Val124Ile)
c.148G>A (p.Val50Ile)
c.115G>A (p.Val39Ile)
 gnomAD v4
2g.31533679T>ACA425568345SRD5A2c.369A>T (p.Gly123=)
c.147A>T (p.Gly49=)
c.114A>T (p.Gly38=)
 gnomAD v4
2g.31533679T>CCA425568346SRD5A2c.369A>G (p.Gly123=)
c.147A>G (p.Gly49=)
c.114A>G (p.Gly38=)
 gnomAD v4
2g.31533679T>GCA425568347SRD5A2c.369A>C (p.Gly123=)
c.147A>C (p.Gly49=)
c.114A>C (p.Gly38=)
2g.31533680C>ACA346598567SRD5A2c.368G>T (p.Gly123Val)
c.146G>T (p.Gly49Val)
c.113G>T (p.Gly38Val)
 gnomAD v4
2g.31533680C>GCA346598568SRD5A2c.368G>C (p.Gly123Ala)
c.146G>C (p.Gly49Ala)
c.113G>C (p.Gly38Ala)
 gnomAD v4
2g.31533680C>TCA346598569SRD5A2c.368G>A (p.Gly123Glu)
c.146G>A (p.Gly49Glu)
c.113G>A (p.Gly38Glu)
 gnomAD v4
2g.31533681C>ACA346598570SRD5A2c.367G>T (p.Gly123Ter)
c.145G>T (p.Gly49Ter)
c.112G>T (p.Gly38Ter)
2g.31533681C=CA1242199337SRD5A2c.367G= (p.Gly123=)
c.145G= (p.Gly49=)
c.112G= (p.Gly38=)
2g.31533681C>GCA346598571SRD5A2c.367G>C (p.Gly123Arg)
c.145G>C (p.Gly49Arg)
c.112G>C (p.Gly38Arg)
2g.31533681C>TCA346598572SRD5A2c.367G>A (p.Gly123Arg)
c.145G>A (p.Gly49Arg)
c.112G>A (p.Gly38Arg)
 dbSNP gnomAD v4

Number of alleles fetched