Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31531433T>ACA346598293SRD5A2c.485A>T (p.His162Leu)
c.263A>T (p.His88Leu)
c.230A>T (p.His77Leu)
2g.31531433T>CCA346598295SRD5A2c.485A>G (p.His162Arg)
c.263A>G (p.His88Arg)
c.230A>G (p.His77Arg)
gnomAD v4
2g.31531433T>GCA346598294SRD5A2c.485A>C (p.His162Pro)
c.263A>C (p.His88Pro)
c.230A>C (p.His77Pro)
ClinVar dbSNP
2g.31531433T=CA1242198331SRD5A2c.485A= (p.His162=)
c.263A= (p.His88=)
c.230A= (p.His77=)
2g.31531434G>ACA346598296SRD5A2c.484C>T (p.His162Tyr)
c.262C>T (p.His88Tyr)
c.229C>T (p.His77Tyr)
2g.31531434G>CCA346598298SRD5A2c.484C>G (p.His162Asp)
c.262C>G (p.His88Asp)
c.229C>G (p.His77Asp)
2g.31531434G>TCA346598297SRD5A2c.484C>A (p.His162Asn)
c.262C>A (p.His88Asn)
c.229C>A (p.His77Asn)
gnomAD v4
2g.31531435A>CCA346598299SRD5A2c.483T>G (p.Ile161Met)
c.261T>G (p.Ile87Met)
c.228T>G (p.Ile76Met)
2g.31531435A>GCA425567623SRD5A2c.483T>C (p.Ile161=)
c.261T>C (p.Ile87=)
c.228T>C (p.Ile76=)
2g.31531435A>TCA425567625SRD5A2c.483T>A (p.Ile161=)
c.261T>A (p.Ile87=)
c.228T>A (p.Ile76=)
2g.31531436A=CA1242198332SRD5A2c.482T= (p.Ile161=)
c.260T= (p.Ile87=)
c.227T= (p.Ile76=)
2g.31531436A>CCA346598302SRD5A2c.482T>G (p.Ile161Ser)
c.260T>G (p.Ile87Ser)
c.227T>G (p.Ile76Ser)
2g.31531436A>GCA346598300SRD5A2c.482T>C (p.Ile161Thr)
c.260T>C (p.Ile87Thr)
c.227T>C (p.Ile76Thr)
dbSNP gnomAD v2 gnomAD v4
2g.31531436A>TCA346598301SRD5A2c.482T>A (p.Ile161Asn)
c.260T>A (p.Ile87Asn)
c.227T>A (p.Ile76Asn)
2g.31531437T>ACA346598303SRD5A2c.481A>T (p.Ile161Phe)
c.259A>T (p.Ile87Phe)
c.226A>T (p.Ile76Phe)
2g.31531437T>CCA346598304SRD5A2c.481A>G (p.Ile161Val)
c.259A>G (p.Ile87Val)
c.226A>G (p.Ile76Val)
dbSNP gnomAD v3 gnomAD v4
2g.31531437T>GCA346598305SRD5A2c.481A>C (p.Ile161Leu)
c.259A>C (p.Ile87Leu)
c.226A>C (p.Ile76Leu)
2g.31531437T=CA1242198333SRD5A2c.481A= (p.Ile161=)
c.259A= (p.Ile87=)
c.226A= (p.Ile76=)
2g.31531438G>ACA425567630SRD5A2c.480C>T (p.Asn160=)
c.258C>T (p.Asn86=)
c.225C>T (p.Asn75=)
ClinVar gnomAD v4
2g.31531438G>CCA346598306SRD5A2c.480C>G (p.Asn160Lys)
c.258C>G (p.Asn86Lys)
c.225C>G (p.Asn75Lys)
2g.31531438G>TCA346598307SRD5A2c.480C>A (p.Asn160Lys)
c.258C>A (p.Asn86Lys)
c.225C>A (p.Asn75Lys)
gnomAD v4
2g.31531439T>ACA346598308SRD5A2c.479A>T (p.Asn160Ile)
c.257A>T (p.Asn86Ile)
c.224A>T (p.Asn75Ile)
2g.31531439T>CCA346598309SRD5A2c.479A>G (p.Asn160Ser)
c.257A>G (p.Asn86Ser)
c.224A>G (p.Asn75Ser)
gnomAD v4
2g.31531439T>GCA346598310SRD5A2c.479A>C (p.Asn160Thr)
c.257A>C (p.Asn86Thr)
c.224A>C (p.Asn75Thr)
2g.31531440T>ACA346598311SRD5A2c.478A>T (p.Asn160Tyr)
c.256A>T (p.Asn86Tyr)
c.223A>T (p.Asn75Tyr)
2g.31531440T>CCA346598312SRD5A2c.478A>G (p.Asn160Asp)
c.256A>G (p.Asn86Asp)
c.223A>G (p.Asn75Asp)
2g.31531440T>GCA346598313SRD5A2c.478A>C (p.Asn160His)
c.256A>C (p.Asn86His)
c.223A>C (p.Asn75His)
2g.31531441T>ACA425567636SRD5A2c.477A>T (p.Ile159=)
c.255A>T (p.Ile85=)
c.222A>T (p.Ile74=)
2g.31531441T>CCA346598314SRD5A2c.477A>G (p.Ile159Met)
c.255A>G (p.Ile85Met)
c.222A>G (p.Ile74Met)
2g.31531441T>GCA425567637SRD5A2c.477A>C (p.Ile159=)
c.255A>C (p.Ile85=)
c.222A>C (p.Ile74=)
2g.31531442A>CCA346598315SRD5A2c.476T>G (p.Ile159Arg)
c.254T>G (p.Ile85Arg)
c.221T>G (p.Ile74Arg)
2g.31531442A>GCA346598316SRD5A2c.476T>C (p.Ile159Thr)
c.254T>C (p.Ile85Thr)
c.221T>C (p.Ile74Thr)
2g.31531442A>TCA346598317SRD5A2c.476T>A (p.Ile159Lys)
c.254T>A (p.Ile85Lys)
c.221T>A (p.Ile74Lys)
2g.31531443T>ACA346598318SRD5A2c.475A>T (p.Ile159Leu)
c.253A>T (p.Ile85Leu)
c.220A>T (p.Ile74Leu)
2g.31531443T>CCA346598319SRD5A2c.475A>G (p.Ile159Val)
c.253A>G (p.Ile85Val)
c.220A>G (p.Ile74Val)
2g.31531443T>GCA346598320SRD5A2c.475A>C (p.Ile159Leu)
c.253A>C (p.Ile85Leu)
c.220A>C (p.Ile74Leu)
2g.31531444T>ACA425567644SRD5A2c.474A>T (p.Gly158=)
c.252A>T (p.Gly84=)
c.219A>T (p.Gly73=)
2g.31531444T>CCA425567645SRD5A2c.474A>G (p.Gly158=)
c.252A>G (p.Gly84=)
c.219A>G (p.Gly73=)
gnomAD v4 COSMIC
2g.31531444T>GCA425567646SRD5A2c.474A>C (p.Gly158=)
c.252A>C (p.Gly84=)
c.219A>C (p.Gly73=)
2g.31531445C>ACA346598321SRD5A2c.473G>T (p.Gly158Val)
c.251G>T (p.Gly84Val)
c.218G>T (p.Gly73Val)
gnomAD v4
2g.31531445C=CA1242198334SRD5A2c.473G= (p.Gly158=)
c.251G= (p.Gly84=)
c.218G= (p.Gly73=)
2g.31531445C>GCA346598322SRD5A2c.473G>C (p.Gly158Ala)
c.251G>C (p.Gly84Ala)
c.218G>C (p.Gly73Ala)
gnomAD v4
2g.31531445C>TCA1599926SRD5A2c.473G>A (p.Gly158Glu)
c.251G>A (p.Gly84Glu)
c.218G>A (p.Gly73Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531447delCA2658498714SRD5A2c.473del (p.Gly158GlufsTer2)
c.251del (p.Gly84GlufsTer2)
c.218del (p.Gly73GlufsTer2)
gnomAD v4
2g.31531446C>ACA346598323SRD5A2c.472G>T (p.Gly158Ter)
c.250G>T (p.Gly84Ter)
c.217G>T (p.Gly73Ter)
gnomAD v4
2g.31531446C>GCA346598324SRD5A2c.472G>C (p.Gly158Arg)
c.250G>C (p.Gly84Arg)
c.217G>C (p.Gly73Arg)
2g.31531446C>TCA346598325SRD5A2c.472G>A (p.Gly158Arg)
c.250G>A (p.Gly84Arg)
c.217G>A (p.Gly73Arg)
gnomAD v4
2g.31531447C>ACA346598328SRD5A2c.471G>T (p.Met157Ile)
c.249G>T (p.Met83Ile)
c.216G>T (p.Met72Ile)
gnomAD v4
2g.31531447C>GCA346598327SRD5A2c.471G>C (p.Met157Ile)
c.249G>C (p.Met83Ile)
c.216G>C (p.Met72Ile)
2g.31531447C>TCA346598326SRD5A2c.471G>A (p.Met157Ile)
c.249G>A (p.Met83Ile)
c.216G>A (p.Met72Ile)
COSMIC COSMIC
2g.31531447_31531449delCA2586969029SRD5A2c.469_471del (p.Met157del)
c.247_249del (p.Met83del)
c.214_216del (p.Met72del)
2g.31531447_31531450delinsCATTCA1242198335SRD5A2c.468_471delinsAATG (p.Gly156=)
c.246_249delinsAATG (p.Gly82=)
c.213_216delinsAATG (p.Gly71=)
2g.31531448A=CA1242198336SRD5A2c.470T= (p.Met157=)
c.248T= (p.Met83=)
c.215T= (p.Met72=)
2g.31531448A>CCA346598329SRD5A2c.470T>G (p.Met157Arg)
c.248T>G (p.Met83Arg)
c.215T>G (p.Met72Arg)
gnomAD v4
2g.31531448A>GCA346598330SRD5A2c.470T>C (p.Met157Thr)
c.248T>C (p.Met83Thr)
c.215T>C (p.Met72Thr)
dbSNP gnomAD v2 gnomAD v4
2g.31531448A>TCA346598331SRD5A2c.470T>A (p.Met157Lys)
c.248T>A (p.Met83Lys)
c.215T>A (p.Met72Lys)
2g.31531448_31531450delCA340066SRD5A2c.468_470del (p.Met157del)
c.246_248del (p.Met83del)
c.213_215del (p.Met72del)
ClinVar dbSNP
2g.31531449T>ACA346598332SRD5A2c.469A>T (p.Met157Leu)
c.247A>T (p.Met83Leu)
c.214A>T (p.Met72Leu)
2g.31531449T>CCA346598333SRD5A2c.469A>G (p.Met157Val)
c.247A>G (p.Met83Val)
c.214A>G (p.Met72Val)
dbSNP gnomAD v3 gnomAD v4
2g.31531449T>GCA346598334SRD5A2c.469A>C (p.Met157Leu)
c.247A>C (p.Met83Leu)
c.214A>C (p.Met72Leu)
2g.31531449T=CA1242198337SRD5A2c.469A= (p.Met157=)
c.247A= (p.Met83=)
c.214A= (p.Met72=)
2g.31531450T>ACA425567659SRD5A2c.468A>T (p.Gly156=)
c.246A>T (p.Gly82=)
c.213A>T (p.Gly71=)
2g.31531450T>CCA425567660SRD5A2c.468A>G (p.Gly156=)
c.246A>G (p.Gly82=)
c.213A>G (p.Gly71=)
2g.31531450T>GCA425567662SRD5A2c.468A>C (p.Gly156=)
c.246A>C (p.Gly82=)
c.213A>C (p.Gly71=)
2g.31531451C>ACA346598335SRD5A2c.467G>T (p.Gly156Val)
c.245G>T (p.Gly82Val)
c.212G>T (p.Gly71Val)
gnomAD v4
2g.31531451C=CA1242198338SRD5A2c.467G= (p.Gly156=)
c.245G= (p.Gly82=)
c.212G= (p.Gly71=)
2g.31531451C>GCA346598336SRD5A2c.467G>C (p.Gly156Ala)
c.245G>C (p.Gly82Ala)
c.212G>C (p.Gly71Ala)
2g.31531451C>TCA346598337SRD5A2c.467G>A (p.Gly156Glu)
c.245G>A (p.Gly82Glu)
c.212G>A (p.Gly71Glu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.31531452C>ACA346598338SRD5A2c.466G>T (p.Gly156Ter)
c.244G>T (p.Gly82Ter)
c.211G>T (p.Gly71Ter)
gnomAD v4
2g.31531452C>GCA346598339SRD5A2c.466G>C (p.Gly156Arg)
c.244G>C (p.Gly82Arg)
c.211G>C (p.Gly71Arg)
2g.31531452C>TCA346598340SRD5A2c.466G>A (p.Gly156Arg)
c.244G>A (p.Gly82Arg)
c.211G>A (p.Gly71Arg)
2g.31531453C>ACA346598341SRD5A2c.465G>T (p.Leu155Phe)
c.243G>T (p.Leu81Phe)
c.210G>T (p.Leu70Phe)
gnomAD v4
2g.31531453C=CA1242198339SRD5A2c.465G= (p.Leu155=)
c.243G= (p.Leu81=)
c.210G= (p.Leu70=)
2g.31531453C>GCA346598342SRD5A2c.465G>C (p.Leu155Phe)
c.243G>C (p.Leu81Phe)
c.210G>C (p.Leu70Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531453C>TCA425567667SRD5A2c.465G>A (p.Leu155=)
c.243G>A (p.Leu81=)
c.210G>A (p.Leu70=)
dbSNP gnomAD v3 gnomAD v4
2g.31531454A>CCA346598343SRD5A2c.464T>G (p.Leu155Trp)
c.242T>G (p.Leu81Trp)
c.209T>G (p.Leu70Trp)
2g.31531454A>GCA346598344SRD5A2c.464T>C (p.Leu155Ser)
c.242T>C (p.Leu81Ser)
c.209T>C (p.Leu70Ser)
gnomAD v4
2g.31531454A>TCA346598345SRD5A2c.464T>A (p.Leu155Ter)
c.242T>A (p.Leu81Ter)
c.209T>A (p.Leu70Ter)
2g.31531457delCA531712594SRD5A2c.464del (p.Leu155TrpfsTer5)
c.242del (p.Leu81TrpfsTer5)
c.209del (p.Leu70TrpfsTer5)
gnomAD v2 gnomAD v4
2g.31531455A>CCA346598346SRD5A2c.463T>G (p.Leu155Val)
c.241T>G (p.Leu81Val)
c.208T>G (p.Leu70Val)
2g.31531455A>GCA425567671SRD5A2c.463T>C (p.Leu155=)
c.241T>C (p.Leu81=)
c.208T>C (p.Leu70=)
gnomAD v4
2g.31531455A>TCA346598347SRD5A2c.463T>A (p.Leu155Met)
c.241T>A (p.Leu81Met)
c.208T>A (p.Leu70Met)
2g.31531461_31531464delCA2658498723SRD5A2c.460_463del (p.Ile154TrpfsTer5)
c.238_241del (p.Ile80TrpfsTer5)
c.205_208del (p.Ile69TrpfsTer5)
gnomAD v4
2g.31531456A=CA1242198340SRD5A2c.462T= (p.Ile154=)
c.240T= (p.Ile80=)
c.207T= (p.Ile69=)
2g.31531456A>CCA346598348SRD5A2c.462T>G (p.Ile154Met)
c.240T>G (p.Ile80Met)
c.207T>G (p.Ile69Met)
2g.31531456A>GCA425567672SRD5A2c.462T>C (p.Ile154=)
c.240T>C (p.Ile80=)
c.207T>C (p.Ile69=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31531456A>TCA425567673SRD5A2c.462T>A (p.Ile154=)
c.240T>A (p.Ile80=)
c.207T>A (p.Ile69=)
2g.31531456_31531457insCACACCCAACACCA2749375066SRD5A2c.461_462insGTGTTGGGTGTG (p.Ile154delinsMetCysTrpValCys)
c.239_240insGTGTTGGGTGTG (p.Ile80delinsMetCysTrpValCys)
c.206_207insGTGTTGGGTGTG (p.Ile69delinsMetCysTrpValCys)
2g.31531457A>CCA346598349SRD5A2c.461T>G (p.Ile154Ser)
c.239T>G (p.Ile80Ser)
c.206T>G (p.Ile69Ser)
2g.31531457A>GCA346598350SRD5A2c.461T>C (p.Ile154Thr)
c.239T>C (p.Ile80Thr)
c.206T>C (p.Ile69Thr)
gnomAD v4
2g.31531457A>TCA346598351SRD5A2c.461T>A (p.Ile154Asn)
c.239T>A (p.Ile80Asn)
c.206T>A (p.Ile69Asn)
2g.31531458T>ACA346598352SRD5A2c.460A>T (p.Ile154Phe)
c.238A>T (p.Ile80Phe)
c.205A>T (p.Ile69Phe)
dbSNP gnomAD v2 gnomAD v4
2g.31531458T>CCA346598353SRD5A2c.460A>G (p.Ile154Val)
c.238A>G (p.Ile80Val)
c.205A>G (p.Ile69Val)
2g.31531458T>GCA346598354SRD5A2c.460A>C (p.Ile154Leu)
c.238A>C (p.Ile80Leu)
c.205A>C (p.Ile69Leu)
2g.31531458T=CA1242198341SRD5A2c.460A= (p.Ile154=)
c.238A= (p.Ile80=)
c.205A= (p.Ile69=)
2g.31531459A>CCA346598355SRD5A2c.459T>G (p.Phe153Leu)
c.237T>G (p.Phe79Leu)
c.204T>G (p.Phe68Leu)
2g.31531459A>GCA425567679SRD5A2c.459T>C (p.Phe153=)
c.237T>C (p.Phe79=)
c.204T>C (p.Phe68=)
2g.31531459A>TCA346598356SRD5A2c.459T>A (p.Phe153Leu)
c.237T>A (p.Phe79Leu)
c.204T>A (p.Phe68Leu)
2g.31531460A>CCA346598357SRD5A2c.458T>G (p.Phe153Cys)
c.236T>G (p.Phe79Cys)
c.203T>G (p.Phe68Cys)
2g.31531460A>GCA346598359SRD5A2c.458T>C (p.Phe153Ser)
c.236T>C (p.Phe79Ser)
c.203T>C (p.Phe68Ser)
gnomAD v4
2g.31531460A>TCA346598358SRD5A2c.458T>A (p.Phe153Tyr)
c.236T>A (p.Phe79Tyr)
c.203T>A (p.Phe68Tyr)
2g.31531461A=CA1242198343SRD5A2c.457T= (p.Phe153=)
c.235T= (p.Phe79=)
c.202T= (p.Phe68=)
2g.31531461A>CCA346598360SRD5A2c.457T>G (p.Phe153Val)
c.235T>G (p.Phe79Val)
c.202T>G (p.Phe68Val)
2g.31531461A>GCA346598361SRD5A2c.457T>C (p.Phe153Leu)
c.235T>C (p.Phe79Leu)
c.202T>C (p.Phe68Leu)
dbSNP gnomAD v4
2g.31531461A>TCA346598362SRD5A2c.457T>A (p.Phe153Ile)
c.235T>A (p.Phe79Ile)
c.202T>A (p.Phe68Ile)
2g.31531461_31531462delinsATCA1242198342SRD5A2c.456_457delinsAT (p.Leu152=)
c.234_235delinsAT (p.Leu78=)
c.201_202delinsAT (p.Leu67=)
2g.31531462delCA531712602SRD5A2c.456del (p.Leu152PhefsTer8)
c.234del (p.Leu78PhefsTer8)
c.201del (p.Leu67PhefsTer8)
dbSNP gnomAD v2
2g.31531462T>ACA346598363SRD5A2c.456A>T (p.Leu152Phe)
c.234A>T (p.Leu78Phe)
c.201A>T (p.Leu67Phe)
gnomAD v2 gnomAD v4
2g.31531462T>CCA425567686SRD5A2c.456A>G (p.Leu152=)
c.234A>G (p.Leu78=)
c.201A>G (p.Leu67=)
2g.31531462T>GCA346598364SRD5A2c.456A>C (p.Leu152Phe)
c.234A>C (p.Leu78Phe)
c.201A>C (p.Leu67Phe)
2g.31531462_31531465delinsTAAGCA1242198344SRD5A2c.453_456delinsCTTA (p.Phe151=)
c.231_234delinsCTTA (p.Phe77=)
c.198_201delinsCTTA (p.Phe66=)
2g.31531463A>CCA346598365SRD5A2c.455T>G (p.Leu152Ter)
c.233T>G (p.Leu78Ter)
c.200T>G (p.Leu67Ter)
2g.31531463A>GCA346598366SRD5A2c.455T>C (p.Leu152Ser)
c.233T>C (p.Leu78Ser)
c.200T>C (p.Leu67Ser)
2g.31531463A>TCA346598367SRD5A2c.455T>A (p.Leu152Ter)
c.233T>A (p.Leu78Ter)
c.200T>A (p.Leu67Ter)
2g.31531467_31531469delCA1599927SRD5A2c.453_455del (p.Phe151del)
c.231_233del (p.Phe77del)
c.198_200del (p.Phe66del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531464A>CCA346598368SRD5A2c.454T>G (p.Leu152Val)
c.232T>G (p.Leu78Val)
c.199T>G (p.Leu67Val)
2g.31531464A>GCA425567692SRD5A2c.454T>C (p.Leu152=)
c.232T>C (p.Leu78=)
c.199T>C (p.Leu67=)
2g.31531464A>TCA346598369SRD5A2c.454T>A (p.Leu152Ile)
c.232T>A (p.Leu78Ile)
c.199T>A (p.Leu67Ile)
2g.31531465delCA2576929368SRD5A2c.453del (p.Leu152TyrfsTer8)
c.231del (p.Leu78TyrfsTer8)
c.198del (p.Leu67TyrfsTer8)
gnomAD v4
2g.31531465G>ACA1599928SRD5A2c.453C>T (p.Phe151=)
c.231C>T (p.Phe77=)
c.198C>T (p.Phe66=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531465G>CCA346598371SRD5A2c.453C>G (p.Phe151Leu)
c.231C>G (p.Phe77Leu)
c.198C>G (p.Phe66Leu)
dbSNP gnomAD v3 gnomAD v4
2g.31531465G=CA1242198345SRD5A2c.453C= (p.Phe151=)
c.231C= (p.Phe77=)
c.198C= (p.Phe66=)
2g.31531465G>TCA346598370SRD5A2c.453C>A (p.Phe151Leu)
c.231C>A (p.Phe77Leu)
c.198C>A (p.Phe66Leu)
dbSNP
2g.31531466A>CCA346598372SRD5A2c.452T>G (p.Phe151Cys)
c.230T>G (p.Phe77Cys)
c.197T>G (p.Phe66Cys)
2g.31531466A>GCA346598373SRD5A2c.452T>C (p.Phe151Ser)
c.230T>C (p.Phe77Ser)
c.197T>C (p.Phe66Ser)
2g.31531466A>TCA346598374SRD5A2c.452T>A (p.Phe151Tyr)
c.230T>A (p.Phe77Tyr)
c.197T>A (p.Phe66Tyr)
gnomAD v4
2g.31531467A>CCA346598375SRD5A2c.451T>G (p.Phe151Val)
c.229T>G (p.Phe77Val)
c.196T>G (p.Phe66Val)
2g.31531467A>GCA346598376SRD5A2c.451T>C (p.Phe151Leu)
c.229T>C (p.Phe77Leu)
c.196T>C (p.Phe66Leu)
2g.31531467A>TCA346598377SRD5A2c.451T>A (p.Phe151Ile)
c.229T>A (p.Phe77Ile)
c.196T>A (p.Phe66Ile)
gnomAD v4
2g.31531468delCA2586969030SRD5A2c.450del (p.Phe151SerfsTer9)
c.228del (p.Phe77SerfsTer9)
c.195del (p.Phe66SerfsTer9)
2g.31531468G>ACA425567701SRD5A2c.450C>T (p.Val150=)
c.228C>T (p.Val76=)
c.195C>T (p.Val65=)
COSMIC
2g.31531468G>CCA425567702SRD5A2c.450C>G (p.Val150=)
c.228C>G (p.Val76=)
c.195C>G (p.Val65=)
dbSNP gnomAD v2
2g.31531468G=CA1242198346SRD5A2c.450C= (p.Val150=)
c.228C= (p.Val76=)
c.195C= (p.Val65=)
2g.31531468G>TCA425567704SRD5A2c.450C>A (p.Val150=)
c.228C>A (p.Val76=)
c.195C>A (p.Val65=)
2g.31531468_31531478delCA2658498737SRD5A2c.446-6_450del
c.224-6_228del
c.191-6_195del
gnomAD v4
2g.31531469A=CA1242198347SRD5A2c.449T= (p.Val150=)
c.227T= (p.Val76=)
c.194T= (p.Val65=)
2g.31531469A>CCA346598378SRD5A2c.449T>G (p.Val150Gly)
c.227T>G (p.Val76Gly)
c.194T>G (p.Val65Gly)
2g.31531469A>GCA346598379SRD5A2c.449T>C (p.Val150Ala)
c.227T>C (p.Val76Ala)
c.194T>C (p.Val65Ala)
gnomAD v4
2g.31531469A>TCA346598380SRD5A2c.449T>A (p.Val150Asp)
c.227T>A (p.Val76Asp)
c.194T>A (p.Val65Asp)
dbSNP gnomAD v2 gnomAD v4
2g.31531470C>ACA346598381SRD5A2c.448G>T (p.Val150Phe)
c.226G>T (p.Val76Phe)
c.193G>T (p.Val65Phe)
2g.31531470C>GCA346598382SRD5A2c.448G>C (p.Val150Leu)
c.226G>C (p.Val76Leu)
c.193G>C (p.Val65Leu)
2g.31531470C>TCA346598383SRD5A2c.448G>A (p.Val150Ile)
c.226G>A (p.Val76Ile)
c.193G>A (p.Val65Ile)
gnomAD v4
2g.31531471A>CCA425567709SRD5A2c.447T>G (p.Gly149=)
c.225T>G (p.Gly75=)
c.192T>G (p.Gly64=)
2g.31531471A>GCA425567710SRD5A2c.447T>C (p.Gly149=)
c.225T>C (p.Gly75=)
c.192T>C (p.Gly64=)
gnomAD v4
2g.31531471A>TCA425567712SRD5A2c.447T>A (p.Gly149=)
c.225T>A (p.Gly75=)
c.192T>A (p.Gly64=)
2g.31531472C>ACA346598386SRD5A2c.446G>T (p.Gly149Val)
c.224G>T (p.Gly75Val)
c.191G>T (p.Gly64Val)
dbSNP gnomAD v2 gnomAD v4
2g.31531472C=CA1242198348SRD5A2c.446G= (p.Gly149=)
c.224G= (p.Gly75=)
c.191G= (p.Gly64=)
2g.31531472C>GCA346598385SRD5A2c.446G>C (p.Gly149Ala)
c.224G>C (p.Gly75Ala)
c.191G>C (p.Gly64Ala)
2g.31531472C>TCA346598384SRD5A2c.446G>A (p.Gly149Asp)
c.224G>A (p.Gly75Asp)
c.191G>A (p.Gly64Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531473C>ACA346598387SRD5A2c.446-1G>T (n.446-1G>T)
c.224-1G>T (n.224-1G>T)
c.191-1G>T (n.191-1G>T)
gnomAD v4
2g.31531473C=CA1242198349SRD5A2c.446-1G= (n.446-1G=)
c.224-1G= (n.224-1G=)
c.191-1G= (n.191-1G=)
2g.31531473C>GCA346598388SRD5A2c.446-1G>C (n.446-1G>C)
c.224-1G>C (n.224-1G>C)
c.191-1G>C (n.191-1G>C)
2g.31531473C>TCA346598389SRD5A2c.446-1G>A (n.446-1G>A)
c.224-1G>A (n.224-1G>A)
c.191-1G>A (n.191-1G>A)
dbSNP gnomAD v2
2g.31531474T>ACA346598390SRD5A2c.446-2A>T (n.446-2A>T)
c.224-2A>T (n.224-2A>T)
c.191-2A>T (n.191-2A>T)
2g.31531474T>CCA346598391SRD5A2c.446-2A>G (n.446-2A>G)
c.224-2A>G (n.224-2A>G)
c.191-2A>G (n.191-2A>G)
2g.31531474T>GCA346598392SRD5A2c.446-2A>C (n.446-2A>C)
c.224-2A>C (n.224-2A>C)
c.191-2A>C (n.191-2A>C)
dbSNP gnomAD v4
2g.31531474T=CA1242198350SRD5A2c.446-2A= (n.446-2A=)
c.224-2A= (n.224-2A=)
c.191-2A= (n.191-2A=)
2g.31531475T>CCA2658498743SRD5A2c.446-3A>G (n.446-3A>G)
c.224-3A>G (n.224-3A>G)
c.191-3A>G (n.191-3A>G)
gnomAD v4
2g.31531476G>ACA531712612SRD5A2c.446-4C>T (n.446-4C>T)
c.224-4C>T (n.224-4C>T)
c.191-4C>T (n.191-4C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31531476G>CCA2658498744SRD5A2c.446-4C>G (n.446-4C>G)
c.224-4C>G (n.224-4C>G)
c.191-4C>G (n.191-4C>G)
gnomAD v4
2g.31531476G=CA1242198351SRD5A2c.446-4C= (n.446-4C=)
c.224-4C= (n.224-4C=)
c.191-4C= (n.191-4C=)
2g.31531476G>TCA2658498745SRD5A2c.446-4C>A (n.446-4C>A)
c.224-4C>A (n.224-4C>A)
c.191-4C>A (n.191-4C>A)
gnomAD v4
2g.31531478C>ACA2658498746SRD5A2c.446-6G>T (n.446-6G>T)
c.224-6G>T (n.224-6G>T)
c.191-6G>T (n.191-6G>T)
gnomAD v4
2g.31531479_31531482delinsAAAGCA1242198352SRD5A2c.446-10_446-7delinsCTTT (n.446-10_446-7delinsCTTT)
c.224-10_224-7delinsCTTT (n.224-10_224-7delinsCTTT)
c.191-10_191-7delinsCTTT (n.191-10_191-7delinsCTTT)
2g.31531480A>GCA2658498748SRD5A2c.446-8T>C (n.446-8T>C)
c.224-8T>C (n.224-8T>C)
c.191-8T>C (n.191-8T>C)
gnomAD v4
2g.31531484_31531486delCA1599929SRD5A2c.446-10_446-8del (n.446-10_446-8del)
c.224-10_224-8del (n.224-10_224-8del)
c.191-10_191-8del (n.191-10_191-8del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531482G>ACA2658498749SRD5A2c.446-10C>T (n.446-10C>T)
c.224-10C>T (n.224-10C>T)
c.191-10C>T (n.191-10C>T)
gnomAD v4
2g.31531482G>TCA2658498750SRD5A2c.446-10C>A (n.446-10C>A)
c.224-10C>A (n.224-10C>A)
c.191-10C>A (n.191-10C>A)
gnomAD v4
2g.31531483A=CA1242198353SRD5A2c.446-11T= (n.446-11T=)
c.224-11T= (n.224-11T=)
c.191-11T= (n.191-11T=)
2g.31531483A>TCA1599930SRD5A2c.446-11T>A (n.446-11T>A)
c.224-11T>A (n.224-11T>A)
c.191-11T>A (n.191-11T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531483_31531487delinsAAGAGCA1242198354SRD5A2c.446-15_446-11delinsCTCTT (n.446-15_446-11delinsCTCTT)
c.224-15_224-11delinsCTCTT (n.224-15_224-11delinsCTCTT)
c.191-15_191-11delinsCTCTT (n.191-15_191-11delinsCTCTT)
2g.31531484A=CA1242198356SRD5A2c.446-12T= (n.446-12T=)
c.224-12T= (n.224-12T=)
c.191-12T= (n.191-12T=)
2g.31531484A>GCA1599931SRD5A2c.446-12T>C (n.446-12T>C)
c.224-12T>C (n.224-12T>C)
c.191-12T>C (n.191-12T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531487_31531490delCA1242198355SRD5A2c.446-15_446-12del (n.446-15_446-12del)
c.224-15_224-12del (n.224-15_224-12del)
c.191-15_191-12del (n.191-15_191-12del)
dbSNP
2g.31531485G>ACA2658498754SRD5A2c.446-13C>T (n.446-13C>T)
c.224-13C>T (n.224-13C>T)
c.191-13C>T (n.191-13C>T)
gnomAD v4
2g.31531485G=CA1242198357SRD5A2c.446-13C= (n.446-13C=)
c.224-13C= (n.224-13C=)
c.191-13C= (n.191-13C=)
2g.31531485G>TCA767760301SRD5A2c.446-13C>A (n.446-13C>A)
c.224-13C>A (n.224-13C>A)
c.191-13C>A (n.191-13C>A)
dbSNP gnomAD v4
2g.31531485_31531487delCA2658498753SRD5A2c.446-15_446-13del (n.446-15_446-13del)
c.224-15_224-13del (n.224-15_224-13del)
c.191-15_191-13del (n.191-15_191-13del)
gnomAD v4
2g.31531486A>GCA2658498755SRD5A2c.446-14T>C (n.446-14T>C)
c.224-14T>C (n.224-14T>C)
c.191-14T>C (n.191-14T>C)
gnomAD v4
2g.31531487G>CCA2658498757SRD5A2c.446-15C>G (n.446-15C>G)
c.224-15C>G (n.224-15C>G)
c.191-15C>G (n.191-15C>G)
ClinVar gnomAD v4
2g.31531487G=CA1242198358SRD5A2c.446-15C= (n.446-15C=)
c.224-15C= (n.224-15C=)
c.191-15C= (n.191-15C=)
2g.31531487G>TCA531712632SRD5A2c.446-15C>A (n.446-15C>A)
c.224-15C>A (n.224-15C>A)
c.191-15C>A (n.191-15C>A)
dbSNP gnomAD v2 gnomAD v4
2g.31531489G>ACA2658498758SRD5A2c.446-17C>T (n.446-17C>T)
c.224-17C>T (n.224-17C>T)
c.191-17C>T (n.191-17C>T)
gnomAD v4
2g.31531489G>TCA2658498759SRD5A2c.446-17C>A (n.446-17C>A)
c.224-17C>A (n.224-17C>A)
c.191-17C>A (n.191-17C>A)
gnomAD v4
2g.31531492A>GCA2658498760SRD5A2c.446-20T>C (n.446-20T>C)
c.224-20T>C (n.224-20T>C)
c.191-20T>C (n.191-20T>C)
gnomAD v4
2g.31531493G>TCA2658498761SRD5A2c.446-21C>A (n.446-21C>A)
c.224-21C>A (n.224-21C>A)
c.191-21C>A (n.191-21C>A)
gnomAD v4
2g.31531494G>ACA1599932SRD5A2c.446-22C>T (n.446-22C>T)
c.224-22C>T (n.224-22C>T)
c.191-22C>T (n.191-22C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531494G=CA1242198359SRD5A2c.446-22C= (n.446-22C=)
c.224-22C= (n.224-22C=)
c.191-22C= (n.191-22C=)
2g.31531494G>TCA2658498762SRD5A2c.446-22C>A (n.446-22C>A)
c.224-22C>A (n.224-22C>A)
c.191-22C>A (n.191-22C>A)
gnomAD v4
2g.31531495A>GCA2658498764SRD5A2c.446-23T>C (n.446-23T>C)
c.224-23T>C (n.224-23T>C)
c.191-23T>C (n.191-23T>C)
gnomAD v4
2g.31531496G=CA1242198360SRD5A2c.446-24C= (n.446-24C=)
c.224-24C= (n.224-24C=)
c.191-24C= (n.191-24C=)
2g.31531496G>TCA531712636SRD5A2c.446-24C>A (n.446-24C>A)
c.224-24C>A (n.224-24C>A)
c.191-24C>A (n.191-24C>A)
dbSNP gnomAD v2 gnomAD v4
2g.31531496_31531497delinsGACA1242198361SRD5A2c.446-25_446-24delinsTC (n.446-25_446-24delinsTC)
c.224-25_224-24delinsTC (n.224-25_224-24delinsTC)
c.191-25_191-24delinsTC (n.191-25_191-24delinsTC)
2g.31531497A=CA1242198362SRD5A2c.446-25T= (n.446-25T=)
c.224-25T= (n.224-25T=)
c.191-25T= (n.191-25T=)
2g.31531497A>GCA1242198363SRD5A2c.446-25T>C (n.446-25T>C)
c.224-25T>C (n.224-25T>C)
c.191-25T>C (n.191-25T>C)
dbSNP
2g.31531499delCA1242198364SRD5A2c.446-25del (n.446-25del)
c.224-25del (n.224-25del)
c.191-25del (n.191-25del)
dbSNP
2g.31531499A=CA1242198366SRD5A2c.446-27T= (n.446-27T=)
c.224-27T= (n.224-27T=)
c.191-27T= (n.191-27T=)
2g.31531499A>GCA531712642SRD5A2c.446-27T>C (n.446-27T>C)
c.224-27T>C (n.224-27T>C)
c.191-27T>C (n.191-27T>C)
dbSNP gnomAD v2 gnomAD v4
2g.31531499A>TCA531712639SRD5A2c.446-27T>A (n.446-27T>A)
c.224-27T>A (n.224-27T>A)
c.191-27T>A (n.191-27T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531499_31531500delinsATCA1242198365SRD5A2c.446-28_446-27delinsAT (n.446-28_446-27delinsAT)
c.224-28_224-27delinsAT (n.224-28_224-27delinsAT)
c.191-28_191-27delinsAT (n.191-28_191-27delinsAT)
2g.31531500T>ACA2658498766SRD5A2c.446-28A>T (n.446-28A>T)
c.224-28A>T (n.224-28A>T)
c.191-28A>T (n.191-28A>T)
gnomAD v4
2g.31531500T>CCA1599934SRD5A2c.446-28A>G (n.446-28A>G)
c.224-28A>G (n.224-28A>G)
c.191-28A>G (n.191-28A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531500T=CA1242198367SRD5A2c.446-28A= (n.446-28A=)
c.224-28A= (n.224-28A=)
c.191-28A= (n.191-28A=)
2g.31531507dupCA2658498765SRD5A2c.446-28dup (n.446-28dup)
c.224-28dup (n.224-28dup)
c.191-28dup (n.191-28dup)
gnomAD v4
2g.31531507delCA1599933SRD5A2c.446-28del (n.446-28del)
c.224-28del (n.224-28del)
c.191-28del (n.191-28del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31531501T>ACA2576929376SRD5A2c.446-29A>T (n.446-29A>T)
c.224-29A>T (n.224-29A>T)
c.191-29A>T (n.191-29A>T)
2g.31531502T>GCA2576929377SRD5A2c.446-30A>C (n.446-30A>C)
c.224-30A>C (n.224-30A>C)
c.191-30A>C (n.191-30A>C)
gnomAD v4
2g.31531503T>GCA1599935SRD5A2c.446-31A>C (n.446-31A>C)
c.224-31A>C (n.224-31A>C)
c.191-31A>C (n.191-31A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531503T=CA1242198368SRD5A2c.446-31A= (n.446-31A=)
c.224-31A= (n.224-31A=)
c.191-31A= (n.191-31A=)
2g.31531504T>CCA2658498767SRD5A2c.446-32A>G (n.446-32A>G)
c.224-32A>G (n.224-32A>G)
c.191-32A>G (n.191-32A>G)
gnomAD v4
2g.31531506T>GCA531712653SRD5A2c.446-34A>C (n.446-34A>C)
c.224-34A>C (n.224-34A>C)
c.191-34A>C (n.191-34A>C)
dbSNP gnomAD v2 gnomAD v4
2g.31531506T=CA1242198369SRD5A2c.446-34A= (n.446-34A=)
c.224-34A= (n.224-34A=)
c.191-34A= (n.191-34A=)
2g.31531507T>ACA45136528SRD5A2c.446-35A>T (n.446-35A>T)
c.224-35A>T (n.224-35A>T)
c.191-35A>T (n.191-35A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531507T=CA1242198370SRD5A2c.446-35A= (n.446-35A=)
c.224-35A= (n.224-35A=)
c.191-35A= (n.191-35A=)
2g.31531508A=CA1242198371SRD5A2c.446-36T= (n.446-36T=)
c.224-36T= (n.224-36T=)
c.191-36T= (n.191-36T=)
2g.31531508A>TCA1599936SRD5A2c.446-36T>A (n.446-36T>A)
c.224-36T>A (n.224-36T>A)
c.191-36T>A (n.191-36T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531510dupCA2658498768SRD5A2c.446-36dup (n.446-36dup)
c.224-36dup (n.224-36dup)
c.191-36dup (n.191-36dup)
gnomAD v4
2g.31531509A=CA1242198372SRD5A2c.446-37T= (n.446-37T=)
c.224-37T= (n.224-37T=)
c.191-37T= (n.191-37T=)
2g.31531509A>CCA1599937SRD5A2c.446-37T>G (n.446-37T>G)
c.224-37T>G (n.224-37T>G)
c.191-37T>G (n.191-37T>G)
dbSNP ExAC gnomAD v2
2g.31531509A>GCA531712666SRD5A2c.446-37T>C (n.446-37T>C)
c.224-37T>C (n.224-37T>C)
c.191-37T>C (n.191-37T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531510A=CA1242198373SRD5A2c.446-38T= (n.446-38T=)
c.224-38T= (n.224-38T=)
c.191-38T= (n.191-38T=)
2g.31531510A>GCA531712669SRD5A2c.446-38T>C (n.446-38T>C)
c.224-38T>C (n.224-38T>C)
c.191-38T>C (n.191-38T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531511T>CCA2658498769SRD5A2c.446-39A>G (n.446-39A>G)
c.224-39A>G (n.224-39A>G)
c.191-39A>G (n.191-39A>G)
gnomAD v4
2g.31531512G>TCA2576929379SRD5A2c.446-40C>A (n.446-40C>A)
c.224-40C>A (n.224-40C>A)
c.191-40C>A (n.191-40C>A)
gnomAD v4
2g.31531514G>TCA2576929380SRD5A2c.446-42C>A (n.446-42C>A)
c.224-42C>A (n.224-42C>A)
c.191-42C>A (n.191-42C>A)
gnomAD v4
2g.31531515T>ACA224910SRD5A2c.446-43A>T (n.446-43A>T)
c.224-43A>T (n.224-43A>T)
c.191-43A>T (n.191-43A>T)
ClinVar dbSNP
2g.31531515T=CA1242198374SRD5A2c.446-43A= (n.446-43A=)
c.224-43A= (n.224-43A=)
c.191-43A= (n.191-43A=)
2g.31531516C>GCA2658498770SRD5A2c.446-44G>C (n.446-44G>C)
c.224-44G>C (n.224-44G>C)
c.191-44G>C (n.191-44G>C)
gnomAD v4
2g.31531517delCA2576929381SRD5A2c.446-44del (n.446-44del)
c.224-44del (n.224-44del)
c.191-44del (n.191-44del)
gnomAD v4
2g.31531517C>TCA2658498771SRD5A2c.446-45G>A (n.446-45G>A)
c.224-45G>A (n.224-45G>A)
c.191-45G>A (n.191-45G>A)
gnomAD v4
2g.31531518A>GCA2576929382SRD5A2c.446-46T>C (n.446-46T>C)
c.224-46T>C (n.224-46T>C)
c.191-46T>C (n.191-46T>C)
2g.31531519G>CCA767760344SRD5A2c.446-47C>G (n.446-47C>G)
c.224-47C>G (n.224-47C>G)
c.191-47C>G (n.191-47C>G)
dbSNP gnomAD v3 gnomAD v4
2g.31531519G=CA1242198375SRD5A2c.446-47C= (n.446-47C=)
c.224-47C= (n.224-47C=)
c.191-47C= (n.191-47C=)
2g.31531519G>TCA45136529SRD5A2c.446-47C>A (n.446-47C>A)
c.224-47C>A (n.224-47C>A)
c.191-47C>A (n.191-47C>A)
dbSNP gnomAD v4
2g.31531520A>CCA2658498772SRD5A2c.446-48T>G (n.446-48T>G)
c.224-48T>G (n.224-48T>G)
c.191-48T>G (n.191-48T>G)
gnomAD v4
2g.31531521T>CCA2658498773SRD5A2c.446-49A>G (n.446-49A>G)
c.224-49A>G (n.224-49A>G)
c.191-49A>G (n.191-49A>G)
gnomAD v4
2g.31531523G>ACA2658498774SRD5A2c.446-51C>T (n.446-51C>T)
c.224-51C>T (n.224-51C>T)
c.191-51C>T (n.191-51C>T)
gnomAD v4
2g.31531523G>TCA2658498775SRD5A2c.446-51C>A (n.446-51C>A)
c.224-51C>A (n.224-51C>A)
c.191-51C>A (n.191-51C>A)
gnomAD v4
2g.31531525G>ACA1028963508SRD5A2c.446-53C>T (n.446-53C>T)
c.224-53C>T (n.224-53C>T)
c.191-53C>T (n.191-53C>T)
dbSNP gnomAD v3 gnomAD v4
2g.31531525G=CA1242198376SRD5A2c.446-53C= (n.446-53C=)
c.224-53C= (n.224-53C=)
c.191-53C= (n.191-53C=)
2g.31531525G>TCA2658498776SRD5A2c.446-53C>A (n.446-53C>A)
c.224-53C>A (n.224-53C>A)
c.191-53C>A (n.191-53C>A)
gnomAD v4
2g.31531526G>CCA2658498777SRD5A2c.446-54C>G (n.446-54C>G)
c.224-54C>G (n.224-54C>G)
c.191-54C>G (n.191-54C>G)
gnomAD v4
2g.31531526G>TCA2658498778SRD5A2c.446-54C>A (n.446-54C>A)
c.224-54C>A (n.224-54C>A)
c.191-54C>A (n.191-54C>A)
gnomAD v4
2g.31531527T>CCA2658498779SRD5A2c.446-55A>G (n.446-55A>G)
c.224-55A>G (n.224-55A>G)
c.191-55A>G (n.191-55A>G)
dbSNP gnomAD v4
2g.31531528G>ACA2658498781SRD5A2c.446-56C>T (n.446-56C>T)
c.224-56C>T (n.224-56C>T)
c.191-56C>T (n.191-56C>T)
gnomAD v4
2g.31531528G>TCA2658498780SRD5A2c.446-56C>A (n.446-56C>A)
c.224-56C>A (n.224-56C>A)
c.191-56C>A (n.191-56C>A)
gnomAD v4
2g.31531528_31531529delinsGCCA1242198377SRD5A2c.446-57_446-56delinsGC (n.446-57_446-56delinsGC)
c.224-57_224-56delinsGC (n.224-57_224-56delinsGC)
c.191-57_191-56delinsGC (n.191-57_191-56delinsGC)
2g.31531529delCA45136530SRD5A2c.446-57del (n.446-57del)
c.224-57del (n.224-57del)
c.191-57del (n.191-57del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531529C>ACA914375480SRD5A2c.446-57G>T (n.446-57G>T)
c.224-57G>T (n.224-57G>T)
c.191-57G>T (n.191-57G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531529C=CA1242198379SRD5A2c.446-57G= (n.446-57G=)
c.224-57G= (n.224-57G=)
c.191-57G= (n.191-57G=)
2g.31531529C>GCA2658498782SRD5A2c.446-57G>C (n.446-57G>C)
c.224-57G>C (n.224-57G>C)
c.191-57G>C (n.191-57G>C)
gnomAD v4
2g.31531529C>TCA767760348SRD5A2c.446-57G>A (n.446-57G>A)
c.224-57G>A (n.224-57G>A)
c.191-57G>A (n.191-57G>A)
dbSNP gnomAD v3 gnomAD v4
2g.31531529_31531530delinsCTCA1242198378SRD5A2c.446-58_446-57delinsAG (n.446-58_446-57delinsAG)
c.224-58_224-57delinsAG (n.224-58_224-57delinsAG)
c.191-58_191-57delinsAG (n.191-58_191-57delinsAG)
2g.31531530T>CCA1242198381SRD5A2c.446-58A>G (n.446-58A>G)
c.224-58A>G (n.224-58A>G)
c.191-58A>G (n.191-58A>G)
dbSNP gnomAD v4
2g.31531530T>GCA2658498783SRD5A2c.446-58A>C (n.446-58A>C)
c.224-58A>C (n.224-58A>C)
c.191-58A>C (n.191-58A>C)
gnomAD v4
2g.31531530T=CA1242198380SRD5A2c.446-58A= (n.446-58A=)
c.224-58A= (n.224-58A=)
c.191-58A= (n.191-58A=)
2g.31531535dupCA45136531SRD5A2c.446-58dup (n.446-58dup)
c.224-58dup (n.224-58dup)
c.191-58dup (n.191-58dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531535delCA767760364SRD5A2c.446-58del (n.446-58del)
c.224-58del (n.224-58del)
c.191-58del (n.191-58del)
dbSNP gnomAD v3 gnomAD v4
2g.31531533T>CCA2658498784SRD5A2c.446-61A>G (n.446-61A>G)
c.224-61A>G (n.224-61A>G)
c.191-61A>G (n.191-61A>G)
gnomAD v4

Number of alleles fetched