Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31533682A=CA1242199339SRD5A2c.366T= (p.Asn122=)
c.144T= (p.Asn48=)
c.111T= (p.Asn37=)
2g.31533682A>CCA346598574SRD5A2c.366T>G (p.Asn122Lys)
c.144T>G (p.Asn48Lys)
c.111T>G (p.Asn37Lys)
2g.31533682A>GCA1599953SRD5A2c.366T>C (p.Asn122=)
c.144T>C (p.Asn48=)
c.111T>C (p.Asn37=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533682A>TCA346598573SRD5A2c.366T>A (p.Asn122Lys)
c.144T>A (p.Asn48Lys)
c.111T>A (p.Asn37Lys)
2g.31533682_31533683delinsATCA1242199338SRD5A2c.365_366delinsAT (p.Asn122=)
c.143_144delinsAT (p.Asn48=)
c.110_111delinsAT (p.Asn37=)
2g.31533683T>ACA346598575SRD5A2c.365A>T (p.Asn122Ile)
c.143A>T (p.Asn48Ile)
c.110A>T (p.Asn37Ile)
2g.31533683T>CCA346598576SRD5A2c.365A>G (p.Asn122Ser)
c.143A>G (p.Asn48Ser)
c.110A>G (p.Asn37Ser)
2g.31533683T>GCA346598577SRD5A2c.365A>C (p.Asn122Thr)
c.143A>C (p.Asn48Thr)
c.110A>C (p.Asn37Thr)
2g.31533685delCA45136779SRD5A2c.365del (p.Asn122MetfsTer9)
c.143del (p.Asn48MetfsTer9)
c.110del (p.Asn37MetfsTer9)
 dbSNP
2g.31533684T>ACA346598579SRD5A2c.364A>T (p.Asn122Tyr)
c.142A>T (p.Asn48Tyr)
c.109A>T (p.Asn37Tyr)
2g.31533684T>CCA1599954SRD5A2c.364A>G (p.Asn122Asp)
c.142A>G (p.Asn48Asp)
c.109A>G (p.Asn37Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533684T>GCA346598578SRD5A2c.364A>C (p.Asn122His)
c.142A>C (p.Asn48His)
c.109A>C (p.Asn37His)
2g.31533684T=CA1242199340SRD5A2c.364A= (p.Asn122=)
c.142A= (p.Asn48=)
c.109A= (p.Asn37=)
2g.31533685T>ACA425568358SRD5A2c.363A>T (p.Gly121=)
c.141A>T (p.Gly47=)
c.108A>T (p.Gly36=)
2g.31533685T>CCA425568359SRD5A2c.363A>G (p.Gly121=)
c.141A>G (p.Gly47=)
c.108A>G (p.Gly36=)
 gnomAD v4
2g.31533685T>GCA425568360SRD5A2c.363A>C (p.Gly121=)
c.141A>C (p.Gly47=)
c.108A>C (p.Gly36=)
2g.31533686C>ACA346598580SRD5A2c.362G>T (p.Gly121Val)
c.140G>T (p.Gly47Val)
c.107G>T (p.Gly36Val)
 gnomAD v4
2g.31533686C>GCA346598581SRD5A2c.362G>C (p.Gly121Ala)
c.140G>C (p.Gly47Ala)
c.107G>C (p.Gly36Ala)
2g.31533686C>TCA346598582SRD5A2c.362G>A (p.Gly121Glu)
c.140G>A (p.Gly47Glu)
c.107G>A (p.Gly36Glu)
 COSMIC
2g.31533687C>ACA346598583SRD5A2c.361G>T (p.Gly121Ter)
c.139G>T (p.Gly47Ter)
c.106G>T (p.Gly36Ter)
2g.31533687C>GCA346598584SRD5A2c.361G>C (p.Gly121Arg)
c.139G>C (p.Gly47Arg)
c.106G>C (p.Gly36Arg)
2g.31533687C>TCA346598585SRD5A2c.361G>A (p.Gly121Arg)
c.139G>A (p.Gly47Arg)
c.106G>A (p.Gly36Arg)
 gnomAD v4
2g.31533688A>CCA425568363SRD5A2c.360T>G (p.Thr120=)
c.138T>G (p.Thr46=)
c.105T>G (p.Thr35=)
2g.31533688A>GCA425568364SRD5A2c.360T>C (p.Thr120=)
c.138T>C (p.Thr46=)
c.105T>C (p.Thr35=)
 gnomAD v4
2g.31533688A>TCA425568365SRD5A2c.360T>A (p.Thr120=)
c.138T>A (p.Thr46=)
c.105T>A (p.Thr35=)
2g.31533689G>ACA346598586SRD5A2c.359C>T (p.Thr120Ile)
c.137C>T (p.Thr46Ile)
c.104C>T (p.Thr35Ile)
2g.31533689G>CCA346598588SRD5A2c.359C>G (p.Thr120Ser)
c.137C>G (p.Thr46Ser)
c.104C>G (p.Thr35Ser)
 gnomAD v4
2g.31533689G>TCA346598587SRD5A2c.359C>A (p.Thr120Asn)
c.137C>A (p.Thr46Asn)
c.104C>A (p.Thr35Asn)
 gnomAD v4
2g.31533690T>ACA346598589SRD5A2c.358A>T (p.Thr120Ser)
c.136A>T (p.Thr46Ser)
c.103A>T (p.Thr35Ser)
2g.31533690T>CCA346598590SRD5A2c.358A>G (p.Thr120Ala)
c.136A>G (p.Thr46Ala)
c.103A>G (p.Thr35Ala)
 dbSNP gnomAD v2
2g.31533690T>GCA1599955SRD5A2c.358A>C (p.Thr120Pro)
c.136A>C (p.Thr46Pro)
c.103A>C (p.Thr35Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533690T=CA1242199341SRD5A2c.358A= (p.Thr120=)
c.136A= (p.Thr46=)
c.103A= (p.Thr35=)
2g.31533691delCA2573134597SRD5A2c.357del (p.Cys119Ter)
c.135del (p.Cys45Ter)
c.102del (p.Cys34Ter)
 ClinVar dbSNP gnomAD v4
2g.31533691G>ACA425568370SRD5A2c.357C>T (p.Cys119=)
c.135C>T (p.Cys45=)
c.102C>T (p.Cys34=)
 gnomAD v4
2g.31533691G>CCA346598591SRD5A2c.357C>G (p.Cys119Trp)
c.135C>G (p.Cys45Trp)
c.102C>G (p.Cys34Trp)
2g.31533691G>TCA346598592SRD5A2c.357C>A (p.Cys119Ter)
c.135C>A (p.Cys45Ter)
c.102C>A (p.Cys34Ter)
 gnomAD v4
2g.31533692C>ACA346598593SRD5A2c.356G>T (p.Cys119Phe)
c.134G>T (p.Cys45Phe)
c.101G>T (p.Cys34Phe)
 gnomAD v4
2g.31533692C=CA1242199342SRD5A2c.356G= (p.Cys119=)
c.134G= (p.Cys45=)
c.101G= (p.Cys34=)
2g.31533692C>GCA346598594SRD5A2c.356G>C (p.Cys119Ser)
c.134G>C (p.Cys45Ser)
c.101G>C (p.Cys34Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.31533692C>TCA346598595SRD5A2c.356G>A (p.Cys119Tyr)
c.134G>A (p.Cys45Tyr)
c.101G>A (p.Cys34Tyr)
 COSMIC
2g.31533693A>CCA346598596SRD5A2c.355T>G (p.Cys119Gly)
c.133T>G (p.Cys45Gly)
c.100T>G (p.Cys34Gly)
2g.31533693A>GCA346598597SRD5A2c.355T>C (p.Cys119Arg)
c.133T>C (p.Cys45Arg)
c.100T>C (p.Cys34Arg)
2g.31533693A>TCA346598598SRD5A2c.355T>A (p.Cys119Ser)
c.133T>A (p.Cys45Ser)
c.100T>A (p.Cys34Ser)
2g.31533694G>ACA425568375SRD5A2c.354C>T (p.Phe118=)
c.132C>T (p.Phe44=)
c.99C>T (p.Phe33=)
2g.31533694G>CCA45136780SRD5A2c.354C>G (p.Phe118Leu)
c.132C>G (p.Phe44Leu)
c.99C>G (p.Phe33Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533694G=CA1242199343SRD5A2c.354C= (p.Phe118=)
c.132C= (p.Phe44=)
c.99C= (p.Phe33=)
2g.31533694G>TCA1599956SRD5A2c.354C>A (p.Phe118Leu)
c.132C>A (p.Phe44Leu)
c.99C>A (p.Phe33Leu)
 dbSNP ExAC gnomAD v4
2g.31533695A>CCA346598599SRD5A2c.353T>G (p.Phe118Cys)
c.131T>G (p.Phe44Cys)
c.98T>G (p.Phe33Cys)
2g.31533695A>GCA346598600SRD5A2c.353T>C (p.Phe118Ser)
c.131T>C (p.Phe44Ser)
c.98T>C (p.Phe33Ser)
2g.31533695A>TCA346598601SRD5A2c.353T>A (p.Phe118Tyr)
c.131T>A (p.Phe44Tyr)
c.98T>A (p.Phe33Tyr)

Number of alleles fetched