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

Number of alleles fetched