Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31580690G>ACA16609845SRD5A2c.211C>T (p.Gln71Ter)
c.27-46924C>T (n.27-46924C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31580690G>CCA346598895SRD5A2c.211C>G (p.Gln71Glu)
c.27-46924C>G (n.27-46924C>G)
2g.31580690G=CA1242221055SRD5A2c.211C= (p.Gln71=)
c.27-46924C= (n.27-46924C=)
2g.31580690G>TCA346598896SRD5A2c.211C>A (p.Gln71Lys)
c.27-46924C>A (n.27-46924C>A)
 gnomAD v4
2g.31580690_31580691insTTCA2658512709SRD5A2c.210_211insAA (p.Gln71AsnfsTer?)
c.27-46925_27-46924insAA (n.27-46925_27-46924insAA)
 gnomAD v4
2g.31580691C>ACA425627161SRD5A2c.210G>T (p.Arg70=)
c.27-46925G>T (n.27-46925G>T)
 gnomAD v4
2g.31580691C=CA1242221056SRD5A2c.210G= (p.Arg70=)
c.27-46925G= (n.27-46925G=)
2g.31580691C>GCA425627163SRD5A2c.210G>C (p.Arg70=)
c.27-46925G>C (n.27-46925G>C)
2g.31580691C>TCA224895SRD5A2c.210G>A (p.Arg70=)
c.27-46925G>A (n.27-46925G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580692C>ACA346598897SRD5A2c.209G>T (p.Arg70Leu)
c.27-46926G>T (n.27-46926G>T)
 gnomAD v4
2g.31580692C=CA1242221057SRD5A2c.209G= (p.Arg70=)
c.27-46926G= (n.27-46926G=)
2g.31580692C>GCA346598898SRD5A2c.209G>C (p.Arg70Pro)
c.27-46926G>C (n.27-46926G>C)
2g.31580692C>TCA224893SRD5A2c.209G>A (p.Arg70Gln)
c.27-46926G>A (n.27-46926G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.31580693G>ACA1600007SRD5A2c.208C>T (p.Arg70Trp)
c.27-46927C>T (n.27-46927C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580693G>CCA346598899SRD5A2c.208C>G (p.Arg70Gly)
c.27-46927C>G (n.27-46927C>G)
2g.31580693G=CA1242221058SRD5A2c.208C= (p.Arg70=)
c.27-46927C= (n.27-46927C=)
2g.31580693G>TCA425627171SRD5A2c.208C>A (p.Arg70=)
c.27-46927C>A (n.27-46927C>A)
 gnomAD v4
2g.31580695delCA2658512710SRD5A2c.208del (p.Arg70GlyfsTer?)
c.27-46927del (n.27-46927del)
 gnomAD v4
2g.31580694G>ACA224891SRD5A2c.207C>T (p.Ala69=)
c.27-46928C>T (n.27-46928C>T)
 ClinVar dbSNP gnomAD v4
2g.31580694G>CCA425627175SRD5A2c.207C>G (p.Ala69=)
c.27-46928C>G (n.27-46928C>G)
2g.31580694G=CA1242221059SRD5A2c.207C= (p.Ala69=)
c.27-46928C= (n.27-46928C=)
2g.31580694G>TCA425627176SRD5A2c.207C>A (p.Ala69=)
c.27-46928C>A (n.27-46928C>A)
2g.31580695G>ACA346598900SRD5A2c.206C>T (p.Ala69Val)
c.27-46929C>T (n.27-46929C>T)
2g.31580695G>CCA346598901SRD5A2c.206C>G (p.Ala69Gly)
c.27-46929C>G (n.27-46929C>G)
2g.31580695G>TCA346598902SRD5A2c.206C>A (p.Ala69Asp)
c.27-46929C>A (n.27-46929C>A)
 gnomAD v4
2g.31580696C>ACA346598903SRD5A2c.205G>T (p.Ala69Ser)
c.27-46930G>T (n.27-46930G>T)
 ClinVar dbSNP gnomAD v4
2g.31580696C=CA1242221060SRD5A2c.205G= (p.Ala69=)
c.27-46930G= (n.27-46930G=)
2g.31580696C>GCA346598904SRD5A2c.205G>C (p.Ala69Pro)
c.27-46930G>C (n.27-46930G>C)
2g.31580696C>TCA346598905SRD5A2c.205G>A (p.Ala69Thr)
c.27-46930G>A (n.27-46930G>A)
 gnomAD v4
2g.31580697G>ACA1600008SRD5A2c.204C>T (p.Leu68=)
c.27-46931C>T (n.27-46931C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580697G>CCA425627206SRD5A2c.204C>G (p.Leu68=)
c.27-46931C>G (n.27-46931C>G)
2g.31580697G=CA1242221061SRD5A2c.204C= (p.Leu68=)
c.27-46931C= (n.27-46931C=)
2g.31580697G>TCA1600009SRD5A2c.204C>A (p.Leu68=)
c.27-46931C>A (n.27-46931C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580698A>CCA346598906SRD5A2c.203T>G (p.Leu68Arg)
c.27-46932T>G (n.27-46932T>G)
2g.31580698A>GCA346598907SRD5A2c.203T>C (p.Leu68Pro)
c.27-46932T>C (n.27-46932T>C)
2g.31580698A>TCA346598908SRD5A2c.203T>A (p.Leu68His)
c.27-46932T>A (n.27-46932T>A)
2g.31580699G>ACA346598909SRD5A2c.202C>T (p.Leu68Phe)
c.27-46933C>T (n.27-46933C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.31580699G>CCA346598910SRD5A2c.202C>G (p.Leu68Val)
c.27-46933C>G (n.27-46933C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.31580699G=CA1242221062SRD5A2c.202C= (p.Leu68=)
c.27-46933C= (n.27-46933C=)
2g.31580699G>TCA346598911SRD5A2c.202C>A (p.Leu68Ile)
c.27-46933C>A (n.27-46933C>A)
 gnomAD v4
2g.31580700G>ACA1600010SRD5A2c.201C>T (p.Ile67=)
c.27-46934C>T (n.27-46934C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580700G>CCA346598912SRD5A2c.201C>G (p.Ile67Met)
c.27-46934C>G (n.27-46934C>G)
2g.31580700G=CA1242221063SRD5A2c.201C= (p.Ile67=)
c.27-46934C= (n.27-46934C=)
2g.31580700G>TCA425627221SRD5A2c.201C>A (p.Ile67=)
c.27-46934C>A (n.27-46934C>A)
2g.31580701A=CA1242221064SRD5A2c.200T= (p.Ile67=)
c.27-46935T= (n.27-46935T=)
2g.31580701A>CCA45142051SRD5A2c.200T>G (p.Ile67Ser)
c.27-46935T>G (n.27-46935T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.31580701A>GCA346598913SRD5A2c.200T>C (p.Ile67Thr)
c.27-46935T>C (n.27-46935T>C)
2g.31580701A>TCA346598914SRD5A2c.200T>A (p.Ile67Asn)
c.27-46935T>A (n.27-46935T>A)
2g.31580702T>ACA1600011SRD5A2c.199A>T (p.Ile67Phe)
c.27-46936A>T (n.27-46936A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580702T>CCA346598915SRD5A2c.199A>G (p.Ile67Val)
c.27-46936A>G (n.27-46936A>G)
2g.31580702T>GCA346598916SRD5A2c.199A>C (p.Ile67Leu)
c.27-46936A>C (n.27-46936A>C)
2g.31580702T=CA1242221065SRD5A2c.199A= (p.Ile67=)
c.27-46936A= (n.27-46936A=)
2g.31580703C>ACA1600012SRD5A2c.198G>T (p.Gly66=)
c.27-46937G>T (n.27-46937G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580703C=CA1242221066SRD5A2c.198G= (p.Gly66=)
c.27-46937G= (n.27-46937G=)
2g.31580703C>GCA425627229SRD5A2c.198G>C (p.Gly66=)
c.27-46937G>C (n.27-46937G>C)
 gnomAD v4
2g.31580703C>TCA425627230SRD5A2c.198G>A (p.Gly66=)
c.27-46937G>A (n.27-46937G>A)
2g.31580706delCA2658512711SRD5A2c.198del (p.Ile67SerfsTer?)
c.27-46937del (n.27-46937del)
 gnomAD v4
2g.31580704_31580712delCA2658512712SRD5A2c.190_198del (p.Pro64_Gly66del)
c.27-46945_27-46937del (n.27-46945_27-46937del)
 gnomAD v4
2g.31580704C>ACA346598917SRD5A2c.197G>T (p.Gly66Val)
c.27-46938G>T (n.27-46938G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.31580704C=CA1242221067SRD5A2c.197G= (p.Gly66=)
c.27-46938G= (n.27-46938G=)
2g.31580704C>GCA346598918SRD5A2c.197G>C (p.Gly66Ala)
c.27-46938G>C (n.27-46938G>C)
2g.31580704C>TCA346598919SRD5A2c.197G>A (p.Gly66Glu)
c.27-46938G>A (n.27-46938G>A)
 COSMIC
2g.31580705C>ACA346598920SRD5A2c.196G>T (p.Gly66Trp)
c.27-46939G>T (n.27-46939G>T)
 gnomAD v4
2g.31580705C=CA1242221068SRD5A2c.196G= (p.Gly66=)
c.27-46939G= (n.27-46939G=)
2g.31580705C>GCA346598921SRD5A2c.196G>C (p.Gly66Arg)
c.27-46939G>C (n.27-46939G>C)
2g.31580705C>TCA1600013SRD5A2c.196G>A (p.Gly66Arg)
c.27-46939G>A (n.27-46939G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580706C>ACA425627238SRD5A2c.195G>T (p.Ala65=)
c.27-46940G>T (n.27-46940G>T)
2g.31580706C>GCA425627237SRD5A2c.195G>C (p.Ala65=)
c.27-46940G>C (n.27-46940G>C)
2g.31580706C>TCA425627236SRD5A2c.195G>A (p.Ala65=)
c.27-46940G>A (n.27-46940G>A)
 ClinVar gnomAD v4 COSMIC
2g.31580707G>ACA346598924SRD5A2c.194C>T (p.Ala65Val)
c.27-46941C>T (n.27-46941C>T)
 dbSNP gnomAD v4
2g.31580707G>CCA346598923SRD5A2c.194C>G (p.Ala65Gly)
c.27-46941C>G (n.27-46941C>G)
2g.31580707G=CA1242221069SRD5A2c.194C= (p.Ala65=)
c.27-46941C= (n.27-46941C=)
2g.31580707G>TCA346598922SRD5A2c.194C>A (p.Ala65Glu)
c.27-46941C>A (n.27-46941C>A)
 gnomAD v4
2g.31580708C>ACA346598925SRD5A2c.193G>T (p.Ala65Ser)
c.27-46942G>T (n.27-46942G>T)
 dbSNP
2g.31580708C=CA1242221070SRD5A2c.193G= (p.Ala65=)
c.27-46942G= (n.27-46942G=)
2g.31580708C>GCA346598926SRD5A2c.193G>C (p.Ala65Pro)
c.27-46942G>C (n.27-46942G>C)
 ClinVar dbSNP gnomAD v4
2g.31580708C>TCA346598927SRD5A2c.193G>A (p.Ala65Thr)
c.27-46942G>A (n.27-46942G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.31580709G>ACA1600015SRD5A2c.192C>T (p.Pro64=)
c.27-46943C>T (n.27-46943C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580709G>CCA1600014SRD5A2c.192C>G (p.Pro64=)
c.27-46943C>G (n.27-46943C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580709G=CA1242221071SRD5A2c.192C= (p.Pro64=)
c.27-46943C= (n.27-46943C=)
2g.31580709G>TCA425627246SRD5A2c.192C>A (p.Pro64=)
c.27-46943C>A (n.27-46943C>A)
 dbSNP gnomAD v4
2g.31580711delCA2586969047SRD5A2c.192del (p.Ala65ArgfsTer?)
c.27-46943del (n.27-46943del)
2g.31580710G>ACA346598928SRD5A2c.191C>T (p.Pro64Leu)
c.27-46944C>T (n.27-46944C>T)
 ClinVar gnomAD v4
2g.31580710G>CCA346598929SRD5A2c.191C>G (p.Pro64Arg)
c.27-46944C>G (n.27-46944C>G)
 gnomAD v4
2g.31580710G>TCA346598930SRD5A2c.191C>A (p.Pro64His)
c.27-46944C>A (n.27-46944C>A)
2g.31580711G>ACA346598931SRD5A2c.190C>T (p.Pro64Ser)
c.27-46945C>T (n.27-46945C>T)
 gnomAD v4
2g.31580711G>CCA346598932SRD5A2c.190C>G (p.Pro64Ala)
c.27-46945C>G (n.27-46945C>G)
 gnomAD v4
2g.31580711G>TCA346598933SRD5A2c.190C>A (p.Pro64Thr)
c.27-46945C>A (n.27-46945C>A)
 gnomAD v4
2g.31580712C>ACA425627259SRD5A2c.189G>T (p.Val63=)
c.27-46946G>T (n.27-46946G>T)
 gnomAD v4
2g.31580712C>GCA425627263SRD5A2c.189G>C (p.Val63=)
c.27-46946G>C (n.27-46946G>C)
2g.31580712C>TCA425627262SRD5A2c.189G>A (p.Val63=)
c.27-46946G>A (n.27-46946G>A)
 gnomAD v4
2g.31580713A>CCA346598934SRD5A2c.188T>G (p.Val63Gly)
c.27-46947T>G (n.27-46947T>G)
2g.31580713A>GCA346598935SRD5A2c.188T>C (p.Val63Ala)
c.27-46947T>C (n.27-46947T>C)
2g.31580713A>TCA346598936SRD5A2c.188T>A (p.Val63Glu)
c.27-46947T>A (n.27-46947T>A)
2g.31580714C>ACA346598938SRD5A2c.187G>T (p.Val63Leu)
c.27-46948G>T (n.27-46948G>T)
2g.31580714C=CA1242221072SRD5A2c.187G= (p.Val63=)
c.27-46948G= (n.27-46948G=)
2g.31580714C>GCA346598939SRD5A2c.187G>C (p.Val63Leu)
c.27-46948G>C (n.27-46948G>C)
2g.31580714C>TCA346598937SRD5A2c.187G>A (p.Val63Met)
c.27-46948G>A (n.27-46948G>A)
 dbSNP gnomAD v2
2g.31580715C>ACA425627277SRD5A2c.186G>T (p.Ala62=)
c.27-46949G>T (n.27-46949G>T)
 gnomAD v4
2g.31580715C=CA1242221073SRD5A2c.186G= (p.Ala62=)
c.27-46949G= (n.27-46949G=)
2g.31580715C>GCA425627278SRD5A2c.186G>C (p.Ala62=)
c.27-46949G>C (n.27-46949G>C)
 dbSNP gnomAD v4
2g.31580715C>TCA425627285SRD5A2c.186G>A (p.Ala62=)
c.27-46949G>A (n.27-46949G>A)
 gnomAD v4 COSMIC
2g.31580716G>ACA346598940SRD5A2c.185C>T (p.Ala62Val)
c.27-46950C>T (n.27-46950C>T)
 dbSNP gnomAD v4 COSMIC
2g.31580716G>CCA346598942SRD5A2c.185C>G (p.Ala62Gly)
c.27-46950C>G (n.27-46950C>G)
2g.31580716G=CA1242221074SRD5A2c.185C= (p.Ala62=)
c.27-46950C= (n.27-46950C=)
2g.31580716G>TCA346598941SRD5A2c.185C>A (p.Ala62Glu)
c.27-46950C>A (n.27-46950C>A)
2g.31580717C>ACA346598943SRD5A2c.184G>T (p.Ala62Ser)
c.27-46951G>T (n.27-46951G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580717C=CA1242221075SRD5A2c.184G= (p.Ala62=)
c.27-46951G= (n.27-46951G=)
2g.31580717C>GCA346598944SRD5A2c.184G>C (p.Ala62Pro)
c.27-46951G>C (n.27-46951G>C)
2g.31580717C>TCA346598945SRD5A2c.184G>A (p.Ala62Thr)
c.27-46951G>A (n.27-46951G>A)
 dbSNP gnomAD v4
2g.31580718G>ACA224889SRD5A2c.183C>T (p.Phe61=)
c.27-46952C>T (n.27-46952C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580718G>CCA346598946SRD5A2c.183C>G (p.Phe61Leu)
c.27-46952C>G (n.27-46952C>G)
 dbSNP gnomAD v4
2g.31580718G=CA1242221076SRD5A2c.183C= (p.Phe61=)
c.27-46952C= (n.27-46952C=)
2g.31580718G>TCA346598947SRD5A2c.183C>A (p.Phe61Leu)
c.27-46952C>A (n.27-46952C>A)
 gnomAD v4
2g.31580719A>CCA346598948SRD5A2c.182T>G (p.Phe61Cys)
c.27-46953T>G (n.27-46953T>G)
2g.31580719A>GCA346598949SRD5A2c.182T>C (p.Phe61Ser)
c.27-46953T>C (n.27-46953T>C)
2g.31580719A>TCA346598950SRD5A2c.182T>A (p.Phe61Tyr)
c.27-46953T>A (n.27-46953T>A)
2g.31580720A>CCA346598951SRD5A2c.181T>G (p.Phe61Val)
c.27-46954T>G (n.27-46954T>G)
2g.31580720A>GCA346598952SRD5A2c.181T>C (p.Phe61Leu)
c.27-46954T>C (n.27-46954T>C)
2g.31580720A>TCA346598953SRD5A2c.181T>A (p.Phe61Ile)
c.27-46954T>A (n.27-46954T>A)
 gnomAD v4
2g.31580721G>ACA425627310SRD5A2c.180C>T (p.Ser60=)
c.27-46955C>T (n.27-46955C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.31580721G>CCA425627312SRD5A2c.180C>G (p.Ser60=)
c.27-46955C>G (n.27-46955C>G)
2g.31580721G=CA1242221077SRD5A2c.180C= (p.Ser60=)
c.27-46955C= (n.27-46955C=)
2g.31580721G>TCA425627314SRD5A2c.180C>A (p.Ser60=)
c.27-46955C>A (n.27-46955C>A)
2g.31580722G>ACA346598956SRD5A2c.179C>T (p.Ser60Phe)
c.27-46956C>T (n.27-46956C>T)
2g.31580722G>CCA346598954SRD5A2c.179C>G (p.Ser60Cys)
c.27-46956C>G (n.27-46956C>G)
2g.31580722G>TCA346598955SRD5A2c.179C>A (p.Ser60Tyr)
c.27-46956C>A (n.27-46956C>A)
2g.31580723A>CCA346598957SRD5A2c.178T>G (p.Ser60Ala)
c.27-46957T>G (n.27-46957T>G)
 gnomAD v4
2g.31580723A>GCA346598958SRD5A2c.178T>C (p.Ser60Pro)
c.27-46957T>C (n.27-46957T>C)
2g.31580723A>TCA346598959SRD5A2c.178T>A (p.Ser60Thr)
c.27-46957T>A (n.27-46957T>A)
2g.31580724A>CCA425627335SRD5A2c.177T>G (p.Pro59=)
c.27-46958T>G (n.27-46958T>G)
2g.31580724A>GCA425627337SRD5A2c.177T>C (p.Pro59=)
c.27-46958T>C (n.27-46958T>C)
 COSMIC
2g.31580724A>TCA425627338SRD5A2c.177T>A (p.Pro59=)
c.27-46958T>A (n.27-46958T>A)
2g.31580725G>ACA45142052SRD5A2c.176C>T (p.Pro59Leu)
c.27-46959C>T (n.27-46959C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.31580725G>CCA346598960SRD5A2c.176C>G (p.Pro59Arg)
c.27-46959C>G (n.27-46959C>G)
2g.31580725G=CA1242221078SRD5A2c.176C= (p.Pro59=)
c.27-46959C= (n.27-46959C=)
2g.31580725G>TCA346598961SRD5A2c.176C>A (p.Pro59His)
c.27-46959C>A (n.27-46959C>A)
 gnomAD v4
2g.31580726G>ACA346598962SRD5A2c.175C>T (p.Pro59Ser)
c.27-46960C>T (n.27-46960C>T)
2g.31580726G>CCA346598963SRD5A2c.175C>G (p.Pro59Ala)
c.27-46960C>G (n.27-46960C>G)
2g.31580726G=CA1242221079SRD5A2c.175C= (p.Pro59=)
c.27-46960C= (n.27-46960C=)
2g.31580726G>TCA346598964SRD5A2c.175C>A (p.Pro59Thr)
c.27-46960C>A (n.27-46960C>A)
 gnomAD v4
2g.31580727C>ACA425627348SRD5A2c.174G>T (p.Leu58=)
c.27-46961G>T (n.27-46961G>T)
2g.31580727C=CA1242221080SRD5A2c.174G= (p.Leu58=)
c.27-46961G= (n.27-46961G=)
2g.31580727C>GCA425627351SRD5A2c.174G>C (p.Leu58=)
c.27-46961G>C (n.27-46961G>C)
2g.31580727C>TCA425627353SRD5A2c.174G>A (p.Leu58=)
c.27-46961G>A (n.27-46961G>A)
 dbSNP gnomAD v4
2g.31580727dupCA531769325SRD5A2c.174dup (p.Pro59AlafsTer?)
c.27-46961dup (n.27-46961dup)
 dbSNP gnomAD v2 gnomAD v4
2g.31580728A>CCA346598965SRD5A2c.173T>G (p.Leu58Arg)
c.27-46962T>G (n.27-46962T>G)
 gnomAD v4
2g.31580728A>GCA346598966SRD5A2c.173T>C (p.Leu58Pro)
c.27-46962T>C (n.27-46962T>C)
2g.31580728A>TCA346598967SRD5A2c.173T>A (p.Leu58Gln)
c.27-46962T>A (n.27-46962T>A)
2g.31580729G>ACA425627364SRD5A2c.172C>T (p.Leu58=)
c.27-46963C>T (n.27-46963C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31580729G>CCA346598968SRD5A2c.172C>G (p.Leu58Val)
c.27-46963C>G (n.27-46963C>G)
 gnomAD v4
2g.31580729G=CA1242221081SRD5A2c.172C= (p.Leu58=)
c.27-46963C= (n.27-46963C=)
2g.31580729G>TCA346598969SRD5A2c.172C>A (p.Leu58Met)
c.27-46963C>A (n.27-46963C>A)
2g.31580730C>ACA346598970SRD5A2c.171G>T (p.Glu57Asp)
c.27-46964G>T (n.27-46964G>T)
 gnomAD v4
2g.31580730C=CA1242221082SRD5A2c.171G= (p.Glu57=)
c.27-46964G= (n.27-46964G=)
2g.31580730C>GCA346598971SRD5A2c.171G>C (p.Glu57Asp)
c.27-46964G>C (n.27-46964G>C)
2g.31580730C>TCA1600016SRD5A2c.171G>A (p.Glu57=)
c.27-46964G>A (n.27-46964G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580731T>ACA346598972SRD5A2c.170A>T (p.Glu57Val)
c.27-46965A>T (n.27-46965A>T)
2g.31580731T>CCA346598973SRD5A2c.170A>G (p.Glu57Gly)
c.27-46965A>G (n.27-46965A>G)
2g.31580731T>GCA346598974SRD5A2c.170A>C (p.Glu57Ala)
c.27-46965A>C (n.27-46965A>C)
 dbSNP gnomAD v2
2g.31580731T=CA1242221083SRD5A2c.170A= (p.Glu57=)
c.27-46965A= (n.27-46965A=)
2g.31580732C>ACA346598976SRD5A2c.169G>T (p.Glu57Ter)
c.27-46966G>T (n.27-46966G>T)
 ClinVar dbSNP
2g.31580732C=CA1242221084SRD5A2c.169G= (p.Glu57=)
c.27-46966G= (n.27-46966G=)
2g.31580732C>GCA1600017SRD5A2c.169G>C (p.Glu57Gln)
c.27-46966G>C (n.27-46966G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580732C>TCA346598975SRD5A2c.169G>A (p.Glu57Lys)
c.27-46966G>A (n.27-46966G>A)
 gnomAD v4
2g.31580733C>ACA346598977SRD5A2c.168G>T (p.Gln56His)
c.27-46967G>T (n.27-46967G>T)
2g.31580733C=CA1242221085SRD5A2c.168G= (p.Gln56=)
c.27-46967G= (n.27-46967G=)
2g.31580733C>GCA346598978SRD5A2c.168G>C (p.Gln56His)
c.27-46967G>C (n.27-46967G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.31580733C>TCA425627374SRD5A2c.168G>A (p.Gln56=)
c.27-46967G>A (n.27-46967G>A)
2g.31580734T>ACA346598979SRD5A2c.167A>T (p.Gln56Leu)
c.27-46968A>T (n.27-46968A>T)
2g.31580734T>CCA346598980SRD5A2c.167A>G (p.Gln56Arg)
c.27-46968A>G (n.27-46968A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580734T>GCA346598981SRD5A2c.167A>C (p.Gln56Pro)
c.27-46968A>C (n.27-46968A>C)
2g.31580734T=CA1242221086SRD5A2c.167A= (p.Gln56=)
c.27-46968A= (n.27-46968A=)
2g.31580735G>ACA346598982SRD5A2c.166C>T (p.Gln56Ter)
c.27-46969C>T (n.27-46969C>T)
 dbSNP gnomAD v4
2g.31580735G>CCA346598984SRD5A2c.166C>G (p.Gln56Glu)
c.27-46969C>G (n.27-46969C>G)
2g.31580735G=CA1242221087SRD5A2c.166C= (p.Gln56=)
c.27-46969C= (n.27-46969C=)
2g.31580735G>TCA346598983SRD5A2c.166C>A (p.Gln56Lys)
c.27-46969C>A (n.27-46969C>A)
 gnomAD v4
2g.31580736C>ACA425627387SRD5A2c.165G>T (p.Leu55=)
c.27-46970G>T (n.27-46970G>T)
2g.31580736C>GCA425627388SRD5A2c.165G>C (p.Leu55=)
c.27-46970G>C (n.27-46970G>C)
2g.31580736C>TCA425627394SRD5A2c.165G>A (p.Leu55=)
c.27-46970G>A (n.27-46970G>A)
 gnomAD v4
2g.31580737A=CA1242221088SRD5A2c.164T= (p.Leu55=)
c.27-46971T= (n.27-46971T=)
2g.31580737A>CCA346598985SRD5A2c.164T>G (p.Leu55Arg)
c.27-46971T>G (n.27-46971T>G)
2g.31580737A>GCA346598986SRD5A2c.164T>C (p.Leu55Pro)
c.27-46971T>C (n.27-46971T>C)
 ClinVar dbSNP gnomAD v4
2g.31580737A>TCA340068SRD5A2c.164T>A (p.Leu55Gln)
c.27-46971T>A (n.27-46971T>A)
 ClinVar dbSNP gnomAD v4
2g.31580738G>ACA425627396SRD5A2c.163C>T (p.Leu55=)
c.27-46972C>T (n.27-46972C>T)
2g.31580738G>CCA346598987SRD5A2c.163C>G (p.Leu55Val)
c.27-46972C>G (n.27-46972C>G)
2g.31580738G>TCA346598988SRD5A2c.163C>A (p.Leu55Met)
c.27-46972C>A (n.27-46972C>A)
 gnomAD v4
2g.31580739G>ACA224886SRD5A2c.162C>T (p.Phe54=)
c.27-46973C>T (n.27-46973C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580739G>CCA346598989SRD5A2c.162C>G (p.Phe54Leu)
c.27-46973C>G (n.27-46973C>G)
 gnomAD v4
2g.31580739G=CA1242221089SRD5A2c.162C= (p.Phe54=)
c.27-46973C= (n.27-46973C=)
2g.31580739G>TCA346598990SRD5A2c.162C>A (p.Phe54Leu)
c.27-46973C>A (n.27-46973C>A)
 gnomAD v4
2g.31580740A>CCA346598991SRD5A2c.161T>G (p.Phe54Cys)
c.27-46974T>G (n.27-46974T>G)
2g.31580740A>GCA346598992SRD5A2c.161T>C (p.Phe54Ser)
c.27-46974T>C (n.27-46974T>C)
2g.31580740A>TCA346598993SRD5A2c.161T>A (p.Phe54Tyr)
c.27-46974T>A (n.27-46974T>A)
2g.31580741A>CCA346598994SRD5A2c.160T>G (p.Phe54Val)
c.27-46975T>G (n.27-46975T>G)
2g.31580741A>GCA346598996SRD5A2c.160T>C (p.Phe54Leu)
c.27-46975T>C (n.27-46975T>C)
2g.31580741A>TCA346598995SRD5A2c.160T>A (p.Phe54Ile)
c.27-46975T>A (n.27-46975T>A)
2g.31580742C>ACA346598997SRD5A2c.159G>T (p.Trp53Cys)
c.27-46976G>T (n.27-46976G>T)
2g.31580742C>GCA346598999SRD5A2c.159G>C (p.Trp53Cys)
c.27-46976G>C (n.27-46976G>C)
2g.31580742C>TCA346598998SRD5A2c.159G>A (p.Trp53Ter)
c.27-46976G>A (n.27-46976G>A)
2g.31580743C>ACA346599000SRD5A2c.158G>T (p.Trp53Leu)
c.27-46977G>T (n.27-46977G>T)
2g.31580743C=CA1242221090SRD5A2c.158G= (p.Trp53=)
c.27-46977G= (n.27-46977G=)
2g.31580743C>GCA346599002SRD5A2c.158G>C (p.Trp53Ser)
c.27-46977G>C (n.27-46977G>C)
2g.31580743C>TCA346599001SRD5A2c.158G>A (p.Trp53Ter)
c.27-46977G>A (n.27-46977G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31580744A>CCA346599003SRD5A2c.157T>G (p.Trp53Gly)
c.27-46978T>G (n.27-46978T>G)
2g.31580744A>GCA346599004SRD5A2c.157T>C (p.Trp53Arg)
c.27-46978T>C (n.27-46978T>C)
2g.31580744A>TCA346599005SRD5A2c.157T>A (p.Trp53Arg)
c.27-46978T>A (n.27-46978T>A)
2g.31580745G>ACA425627436SRD5A2c.156C>T (p.Ala52=)
c.27-46979C>T (n.27-46979C>T)
2g.31580745G>CCA425627440SRD5A2c.156C>G (p.Ala52=)
c.27-46979C>G (n.27-46979C>G)
2g.31580745G>TCA425627438SRD5A2c.156C>A (p.Ala52=)
c.27-46979C>A (n.27-46979C>A)
2g.31580746G>ACA346599006SRD5A2c.155C>T (p.Ala52Val)
c.27-46980C>T (n.27-46980C>T)
 gnomAD v4
2g.31580746G>CCA346599007SRD5A2c.155C>G (p.Ala52Gly)
c.27-46980C>G (n.27-46980C>G)
2g.31580746G>TCA346599008SRD5A2c.155C>A (p.Ala52Asp)
c.27-46980C>A (n.27-46980C>A)
2g.31580747C>ACA1600018SRD5A2c.154G>T (p.Ala52Ser)
c.27-46981G>T (n.27-46981G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580747C=CA1242221091SRD5A2c.154G= (p.Ala52=)
c.27-46981G= (n.27-46981G=)
2g.31580747C>GCA346599009SRD5A2c.154G>C (p.Ala52Pro)
c.27-46981G>C (n.27-46981G>C)
2g.31580747C>TCA1600019SRD5A2c.154G>A (p.Ala52Thr)
c.27-46981G>A (n.27-46981G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31580748G>ACA425627450SRD5A2c.153C>T (p.Ala51=)
c.27-46982C>T (n.27-46982C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31580748G>CCA1600020SRD5A2c.153C>G (p.Ala51=)
c.27-46982C>G (n.27-46982C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580748G=CA1242221092SRD5A2c.153C= (p.Ala51=)
c.27-46982C= (n.27-46982C=)
2g.31580748G>TCA425627452SRD5A2c.153C>A (p.Ala51=)
c.27-46982C>A (n.27-46982C>A)
2g.31580749G>ACA346599012SRD5A2c.152C>T (p.Ala51Val)
c.27-46983C>T (n.27-46983C>T)
2g.31580749G>CCA346599010SRD5A2c.152C>G (p.Ala51Gly)
c.27-46983C>G (n.27-46983C>G)
2g.31580749G>TCA346599011SRD5A2c.152C>A (p.Ala51Asp)
c.27-46983C>A (n.27-46983C>A)
 gnomAD v4
2g.31580750C>ACA346599013SRD5A2c.151G>T (p.Ala51Ser)
c.27-46984G>T (n.27-46984G>T)
 dbSNP gnomAD v4
2g.31580750C=CA1242221093SRD5A2c.151G= (p.Ala51=)
c.27-46984G= (n.27-46984G=)
2g.31580750C>GCA346599014SRD5A2c.151G>C (p.Ala51Pro)
c.27-46984G>C (n.27-46984G>C)
2g.31580750C>TCA224884SRD5A2c.151G>A (p.Ala51Thr)
c.27-46984G>A (n.27-46984G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31580751G>ACA45142053SRD5A2c.150C>T (p.Arg50=)
c.27-46985C>T (n.27-46985C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580751G>CCA425627461SRD5A2c.150C>G (p.Arg50=)
c.27-46985C>G (n.27-46985C>G)
2g.31580751G=CA1242221094SRD5A2c.150C= (p.Arg50=)
c.27-46985C= (n.27-46985C=)
2g.31580751G>TCA425627464SRD5A2c.150C>A (p.Arg50=)
c.27-46985C>A (n.27-46985C>A)
 gnomAD v4
2g.31580752C>ACA346599015SRD5A2c.149G>T (p.Arg50Leu)
c.27-46986G>T (n.27-46986G>T)
 gnomAD v4
2g.31580752C=CA1242221095SRD5A2c.149G= (p.Arg50=)
c.27-46986G= (n.27-46986G=)
2g.31580752C>GCA346599016SRD5A2c.149G>C (p.Arg50Pro)
c.27-46986G>C (n.27-46986G>C)
2g.31580752C>TCA1600021SRD5A2c.149G>A (p.Arg50His)
c.27-46986G>A (n.27-46986G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31580753G>ACA346599017SRD5A2c.148C>T (p.Arg50Cys)
c.27-46987C>T (n.27-46987C>T)
 gnomAD v4 COSMIC
2g.31580753G>CCA1600022SRD5A2c.148C>G (p.Arg50Gly)
c.27-46987C>G (n.27-46987C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580753G=CA1242221096SRD5A2c.148C= (p.Arg50=)
c.27-46987C= (n.27-46987C=)
2g.31580753G>TCA45142054SRD5A2c.148C>A (p.Arg50Ser)
c.27-46987C>A (n.27-46987C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31580754G>ACA425627479SRD5A2c.147C>T (p.Ala49=)
c.27-46988C>T (n.27-46988C>T)
 ClinVar
2g.31580754G>CCA425627476SRD5A2c.147C>G (p.Ala49=)
c.27-46988C>G (n.27-46988C>G)
2g.31580754G>TCA425627477SRD5A2c.147C>A (p.Ala49=)
c.27-46988C>A (n.27-46988C>A)
2g.31580755G>ACA346599018SRD5A2c.146C>T (p.Ala49Val)
c.27-46989C>T (n.27-46989C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580755G>CCA346599019SRD5A2c.146C>G (p.Ala49Gly)
c.27-46989C>G (n.27-46989C>G)
2g.31580755G=CA1242221097SRD5A2c.146C= (p.Ala49=)
c.27-46989C= (n.27-46989C=)
2g.31580755G>TCA1600023SRD5A2c.146C>A (p.Ala49Asp)
c.27-46989C>A (n.27-46989C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580756C>ACA346599020SRD5A2c.145G>T (p.Ala49Ser)
c.27-46990G>T (n.27-46990G>T)
2g.31580756C=CA1242221098SRD5A2c.145G= (p.Ala49=)
c.27-46990G= (n.27-46990G=)
2g.31580756C>GCA346599021SRD5A2c.145G>C (p.Ala49Pro)
c.27-46990G>C (n.27-46990G>C)
2g.31580756C>TCA116154SRD5A2c.145G>A (p.Ala49Thr)
c.27-46990G>A (n.27-46990G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580757delCA2739274290SRD5A2c.144del (p.Ala49ProfsTer?)
c.27-46991del (n.27-46991del)
 ClinVar
2g.31580757T>ACA45142055SRD5A2c.144A>T (p.Pro48=)
c.27-46991A>T (n.27-46991A>T)
 dbSNP
2g.31580757T>CCA425627497SRD5A2c.144A>G (p.Pro48=)
c.27-46991A>G (n.27-46991A>G)
2g.31580757T>GCA425627499SRD5A2c.144A>C (p.Pro48=)
c.27-46991A>C (n.27-46991A>C)
2g.31580757T=CA1242221099SRD5A2c.144A= (p.Pro48=)
c.27-46991A= (n.27-46991A=)
2g.31580758G>ACA1600024SRD5A2c.143C>T (p.Pro48Leu)
c.27-46992C>T (n.27-46992C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580758G>CCA224882SRD5A2c.143C>G (p.Pro48Arg)
c.27-46992C>G (n.27-46992C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580758G=CA1242221100SRD5A2c.143C= (p.Pro48=)
c.27-46992C= (n.27-46992C=)
2g.31580758G>TCA346599022SRD5A2c.143C>A (p.Pro48Gln)
c.27-46992C>A (n.27-46992C>A)
2g.31580759G>ACA346599023SRD5A2c.142C>T (p.Pro48Ser)
c.27-46993C>T (n.27-46993C>T)
2g.31580759G>CCA346599024SRD5A2c.142C>G (p.Pro48Ala)
c.27-46993C>G (n.27-46993C>G)
2g.31580759G=CA1242221101SRD5A2c.142C= (p.Pro48=)
c.27-46993C= (n.27-46993C=)
2g.31580759G>TCA346599025SRD5A2c.142C>A (p.Pro48Thr)
c.27-46993C>A (n.27-46993C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31580760C>ACA425627519SRD5A2c.141G>T (p.Leu47=)
c.27-46994G>T (n.27-46994G>T)
2g.31580760C=CA1242221102SRD5A2c.141G= (p.Leu47=)
c.27-46994G= (n.27-46994G=)
2g.31580760C>GCA425627524SRD5A2c.141G>C (p.Leu47=)
c.27-46994G>C (n.27-46994G>C)
2g.31580760C>TCA1600025SRD5A2c.141G>A (p.Leu47=)
c.27-46994G>A (n.27-46994G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580761A>CCA346599027SRD5A2c.140T>G (p.Leu47Arg)
c.27-46995T>G (n.27-46995T>G)
2g.31580761A>GCA346599028SRD5A2c.140T>C (p.Leu47Pro)
c.27-46995T>C (n.27-46995T>C)
2g.31580761A>TCA346599026SRD5A2c.140T>A (p.Leu47Gln)
c.27-46995T>A (n.27-46995T>A)
2g.31580761_31580768delinsAGGCGGGTCA1242221103SRD5A2c.133_140delinsACCCGCCT (p.Thr45=)
c.27-47002_27-46995delinsACCCGCCT (n.27-47002_27-46995delinsACCCGCCT)
2g.31580762G>ACA425627525SRD5A2c.139C>T (p.Leu47=)
c.27-46996C>T (n.27-46996C>T)
 ClinVar
2g.31580762G>CCA346599029SRD5A2c.139C>G (p.Leu47Val)
c.27-46996C>G (n.27-46996C>G)
 gnomAD v4
2g.31580762G=CA1242221105SRD5A2c.139C= (p.Leu47=)
c.27-46996C= (n.27-46996C=)
2g.31580762G>TCA346599030SRD5A2c.139C>A (p.Leu47Met)
c.27-46996C>A (n.27-46996C>A)
 dbSNP
2g.31580764_31580766dupCA2658512713SRD5A2c.137_139dup (p.Arg46_Leu47insArg)
c.27-46998_27-46996dup (n.27-46998_27-46996dup)
 gnomAD v4
2g.31580762_31580768delCA1242221104SRD5A2c.133_139del (p.Thr45CysfsTer?)
c.27-47002_27-46996del (n.27-47002_27-46996del)
 dbSNP gnomAD v3 gnomAD v4
2g.31580763G>ACA425627526SRD5A2c.138C>T (p.Arg46=)
c.27-46997C>T (n.27-46997C>T)
2g.31580763G>CCA425627527SRD5A2c.138C>G (p.Arg46=)
c.27-46997C>G (n.27-46997C>G)
2g.31580763G>TCA425627528SRD5A2c.138C>A (p.Arg46=)
c.27-46997C>A (n.27-46997C>A)
 gnomAD v4
2g.31580764C>ACA346599031SRD5A2c.137G>T (p.Arg46Leu)
c.27-46998G>T (n.27-46998G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.31580764C=CA1242221106SRD5A2c.137G= (p.Arg46=)
c.27-46998G= (n.27-46998G=)
2g.31580764C>GCA346599032SRD5A2c.137G>C (p.Arg46Pro)
c.27-46998G>C (n.27-46998G>C)
2g.31580764C>TCA1600026SRD5A2c.137G>A (p.Arg46His)
c.27-46998G>A (n.27-46998G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580765_31580787delCA2739274291SRD5A2c.115_137del (p.Ser39ProfsTer?)
c.27-47020_27-46998del (n.27-47020_27-46998del)
 ClinVar
2g.31580765G>ACA45142056SRD5A2c.136C>T (p.Arg46Cys)
c.27-46999C>T (n.27-46999C>T)
 dbSNP gnomAD v4
2g.31580765G>CCA346599033SRD5A2c.136C>G (p.Arg46Gly)
c.27-46999C>G (n.27-46999C>G)
 dbSNP
2g.31580765G=CA1242221107SRD5A2c.136C= (p.Arg46=)
c.27-46999C= (n.27-46999C=)
2g.31580765G>TCA346599034SRD5A2c.136C>A (p.Arg46Ser)
c.27-46999C>A (n.27-46999C>A)
 gnomAD v4 COSMIC
2g.31580766G>ACA425627548SRD5A2c.135C>T (p.Thr45=)
c.27-47000C>T (n.27-47000C>T)
 dbSNP gnomAD v4
2g.31580766G>CCA425627550SRD5A2c.135C>G (p.Thr45=)
c.27-47000C>G (n.27-47000C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.31580766G=CA1242221108SRD5A2c.135C= (p.Thr45=)
c.27-47000C= (n.27-47000C=)
2g.31580766G>TCA425627552SRD5A2c.135C>A (p.Thr45=)
c.27-47000C>A (n.27-47000C>A)
2g.31580767G>ACA1600027SRD5A2c.134C>T (p.Thr45Ile)
c.27-47001C>T (n.27-47001C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580767G>CCA346599035SRD5A2c.134C>G (p.Thr45Ser)
c.27-47001C>G (n.27-47001C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.31580767G=CA1242221109SRD5A2c.134C= (p.Thr45=)
c.27-47001C= (n.27-47001C=)
2g.31580767G>TCA346599036SRD5A2c.134C>A (p.Thr45Asn)
c.27-47001C>A (n.27-47001C>A)
 dbSNP gnomAD v4
2g.31580768delCA2749376910SRD5A2c.133del (p.Thr45ProfsTer?)
c.27-47002del (n.27-47002del)
2g.31580768T>ACA346599037SRD5A2c.133A>T (p.Thr45Ser)
c.27-47002A>T (n.27-47002A>T)
2g.31580768T>CCA1600028SRD5A2c.133A>G (p.Thr45Ala)
c.27-47002A>G (n.27-47002A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580768T>GCA346599038SRD5A2c.133A>C (p.Thr45Pro)
c.27-47002A>C (n.27-47002A>C)
2g.31580768T=CA1242221110SRD5A2c.133A= (p.Thr45=)
c.27-47002A= (n.27-47002A=)
2g.31580769A>CCA425627558SRD5A2c.132T>G (p.Ala44=)
c.27-47003T>G (n.27-47003T>G)
2g.31580769A>GCA425627559SRD5A2c.132T>C (p.Ala44=)
c.27-47003T>C (n.27-47003T>C)
2g.31580769A>TCA425627560SRD5A2c.132T>A (p.Ala44=)
c.27-47003T>A (n.27-47003T>A)
 ClinVar
2g.31580770G>ACA1600029SRD5A2c.131C>T (p.Ala44Val)
c.27-47004C>T (n.27-47004C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580770G>CCA346599040SRD5A2c.131C>G (p.Ala44Gly)
c.27-47004C>G (n.27-47004C>G)
2g.31580770G=CA1242221112SRD5A2c.131C= (p.Ala44=)
c.27-47004C= (n.27-47004C=)
2g.31580770G>TCA346599039SRD5A2c.131C>A (p.Ala44Asp)
c.27-47004C>A (n.27-47004C>A)
2g.31580770_31580786delinsGCCGCCGGCTTCAGGCTCA1242221111SRD5A2c.115_131delinsAGCCTGAAGCCGGCGGC (p.Ser39=)
c.27-47020_27-47004delinsAGCCTGAAGCCGGCGGC (n.27-47020_27-47004delinsAGCCTGAAGCCGGCGGC)
2g.31580771C>ACA346599041SRD5A2c.130G>T (p.Ala44Ser)
c.27-47005G>T (n.27-47005G>T)
 gnomAD v4
2g.31580771C=CA1242221114SRD5A2c.130G= (p.Ala44=)
c.27-47005G= (n.27-47005G=)
2g.31580771C>GCA346599042SRD5A2c.130G>C (p.Ala44Pro)
c.27-47005G>C (n.27-47005G>C)
2g.31580771C>TCA346599043SRD5A2c.130G>A (p.Ala44Thr)
c.27-47005G>A (n.27-47005G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31580772_31580787delCA1242221113SRD5A2c.115_130del (p.Ser39LeufsTer?)
c.27-47020_27-47005del (n.27-47020_27-47005del)
 dbSNP gnomAD v3 gnomAD v4
2g.31580772C>ACA425627571SRD5A2c.129G>T (p.Ala43=)
c.27-47006G>T (n.27-47006G>T)
2g.31580772C=CA1242221115SRD5A2c.129G= (p.Ala43=)
c.27-47006G= (n.27-47006G=)
2g.31580772C>GCA425627572SRD5A2c.129G>C (p.Ala43=)
c.27-47006G>C (n.27-47006G>C)
2g.31580772C>TCA425627573SRD5A2c.129G>A (p.Ala43=)
c.27-47006G>A (n.27-47006G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31580773G>ACA346599044SRD5A2c.128C>T (p.Ala43Val)
c.27-47007C>T (n.27-47007C>T)
 dbSNP gnomAD v4
2g.31580773G>CCA346599045SRD5A2c.128C>G (p.Ala43Gly)
c.27-47007C>G (n.27-47007C>G)
2g.31580773G=CA1242221117SRD5A2c.128C= (p.Ala43=)
c.27-47007C= (n.27-47007C=)
2g.31580773G>TCA346599046SRD5A2c.128C>A (p.Ala43Glu)
c.27-47007C>A (n.27-47007C>A)
 gnomAD v4
2g.31580773_31580774delinsGCCA1242221116SRD5A2c.127_128delinsGC (p.Ala43=)
c.27-47008_27-47007delinsGC (n.27-47008_27-47007delinsGC)
2g.31580774C>ACA346599047SRD5A2c.127G>T (p.Ala43Ser)
c.27-47008G>T (n.27-47008G>T)
 gnomAD v4
2g.31580774C>GCA346599048SRD5A2c.127G>C (p.Ala43Pro)
c.27-47008G>C (n.27-47008G>C)
2g.31580774C>TCA346599049SRD5A2c.127G>A (p.Ala43Thr)
c.27-47008G>A (n.27-47008G>A)
2g.31580775delCA531769336SRD5A2c.127del (p.Ala43ArgfsTer?)
c.27-47008del (n.27-47008del)
 dbSNP gnomAD v2 gnomAD v4
2g.31580775C>ACA425627593SRD5A2c.126G>T (p.Pro42=)
c.27-47009G>T (n.27-47009G>T)
2g.31580775C=CA1242221118SRD5A2c.126G= (p.Pro42=)
c.27-47009G= (n.27-47009G=)
2g.31580775C>GCA425627589SRD5A2c.126G>C (p.Pro42=)
c.27-47009G>C (n.27-47009G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.31580775C>TCA425627592SRD5A2c.126G>A (p.Pro42=)
c.27-47009G>A (n.27-47009G>A)
 gnomAD v4
2g.31580776G>ACA346599050SRD5A2c.125C>T (p.Pro42Leu)
c.27-47010C>T (n.27-47010C>T)
 gnomAD v4
2g.31580776G>CCA346599051SRD5A2c.125C>G (p.Pro42Arg)
c.27-47010C>G (n.27-47010C>G)
2g.31580776G=CA1242221119SRD5A2c.125C= (p.Pro42=)
c.27-47010C= (n.27-47010C=)
2g.31580776G>TCA1600030SRD5A2c.125C>A (p.Pro42Gln)
c.27-47010C>A (n.27-47010C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580777G>ACA346599052SRD5A2c.124C>T (p.Pro42Ser)
c.27-47011C>T (n.27-47011C>T)
2g.31580777G>CCA1600031SRD5A2c.124C>G (p.Pro42Ala)
c.27-47011C>G (n.27-47011C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580777G=CA1242221120SRD5A2c.124C= (p.Pro42=)
c.27-47011C= (n.27-47011C=)
2g.31580777G>TCA346599053SRD5A2c.124C>A (p.Pro42Thr)
c.27-47011C>A (n.27-47011C>A)
2g.31580778C>ACA346599054SRD5A2c.123G>T (p.Lys41Asn)
c.27-47012G>T (n.27-47012G>T)
2g.31580778C>GCA346599055SRD5A2c.123G>C (p.Lys41Asn)
c.27-47012G>C (n.27-47012G>C)
2g.31580778C>TCA425627605SRD5A2c.123G>A (p.Lys41=)
c.27-47012G>A (n.27-47012G>A)
 gnomAD v4
2g.31580778_31580779delCA2586969048SRD5A2c.122_123del (p.Lys41ThrfsTer?)
c.27-47013_27-47012del (n.27-47013_27-47012del)
2g.31580779T>ACA346599056SRD5A2c.122A>T (p.Lys41Met)
c.27-47013A>T (n.27-47013A>T)
2g.31580779T>CCA346599057SRD5A2c.122A>G (p.Lys41Arg)
c.27-47013A>G (n.27-47013A>G)
2g.31580779T>GCA346599058SRD5A2c.122A>C (p.Lys41Thr)
c.27-47013A>C (n.27-47013A>C)
2g.31580780T>ACA346599059SRD5A2c.121A>T (p.Lys41Ter)
c.27-47014A>T (n.27-47014A>T)
2g.31580780T>CCA346599060SRD5A2c.121A>G (p.Lys41Glu)
c.27-47014A>G (n.27-47014A>G)
2g.31580780T>GCA346599061SRD5A2c.121A>C (p.Lys41Gln)
c.27-47014A>C (n.27-47014A>C)
2g.31580781C>ACA425627618SRD5A2c.120G>T (p.Leu40=)
c.27-47015G>T (n.27-47015G>T)
2g.31580781C>GCA425627617SRD5A2c.120G>C (p.Leu40=)
c.27-47015G>C (n.27-47015G>C)
2g.31580781C>TCA425627620SRD5A2c.120G>A (p.Leu40=)
c.27-47015G>A (n.27-47015G>A)
2g.31580782A>CCA346599062SRD5A2c.119T>G (p.Leu40Arg)
c.27-47016T>G (n.27-47016T>G)
2g.31580782A>GCA346599063SRD5A2c.119T>C (p.Leu40Pro)
c.27-47016T>C (n.27-47016T>C)
2g.31580782A>TCA346599064SRD5A2c.119T>A (p.Leu40Gln)
c.27-47016T>A (n.27-47016T>A)
2g.31580783G>ACA425627626SRD5A2c.118C>T (p.Leu40=)
c.27-47017C>T (n.27-47017C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.31580783G>CCA346599065SRD5A2c.118C>G (p.Leu40Val)
c.27-47017C>G (n.27-47017C>G)
2g.31580783G=CA1242221121SRD5A2c.118C= (p.Leu40=)
c.27-47017C= (n.27-47017C=)
2g.31580783G>TCA346599066SRD5A2c.118C>A (p.Leu40Met)
c.27-47017C>A (n.27-47017C>A)
2g.31580784G>ACA425627630SRD5A2c.117C>T (p.Ser39=)
c.27-47018C>T (n.27-47018C>T)
2g.31580784G>CCA346599067SRD5A2c.117C>G (p.Ser39Arg)
c.27-47018C>G (n.27-47018C>G)
2g.31580784G>TCA346599068SRD5A2c.117C>A (p.Ser39Arg)
c.27-47018C>A (n.27-47018C>A)
2g.31580785C>ACA346599069SRD5A2c.116G>T (p.Ser39Ile)
c.27-47019G>T (n.27-47019G>T)
 gnomAD v4
2g.31580785C>GCA346599071SRD5A2c.116G>C (p.Ser39Thr)
c.27-47019G>C (n.27-47019G>C)
2g.31580785C>TCA346599070SRD5A2c.116G>A (p.Ser39Asn)
c.27-47019G>A (n.27-47019G>A)
 gnomAD v4
2g.31580786T>ACA346599072SRD5A2c.115A>T (p.Ser39Cys)
c.27-47020A>T (n.27-47020A>T)
2g.31580786T>CCA346599073SRD5A2c.115A>G (p.Ser39Gly)
c.27-47020A>G (n.27-47020A>G)
2g.31580786T>GCA346599074SRD5A2c.115A>C (p.Ser39Arg)
c.27-47020A>C (n.27-47020A>C)
2g.31580787C>ACA346599075SRD5A2c.114G>T (p.Glu38Asp)
c.27-47021G>T (n.27-47021G>T)
2g.31580787C=CA1242221122SRD5A2c.114G= (p.Glu38=)
c.27-47021G= (n.27-47021G=)
2g.31580787C>GCA346599076SRD5A2c.114G>C (p.Glu38Asp)
c.27-47021G>C (n.27-47021G>C)
2g.31580787C>TCA425627648SRD5A2c.114G>A (p.Glu38=)
c.27-47021G>A (n.27-47021G>A)
 gnomAD v4
2g.31580787_31580788insGACA1600032SRD5A2c.113_114insTC (p.Glu38AspfsTer4)
c.27-47022_27-47021insTC (n.27-47022_27-47021insTC)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580788T>ACA346599077SRD5A2c.113A>T (p.Glu38Val)
c.27-47022A>T (n.27-47022A>T)
2g.31580788T>CCA45142057SRD5A2c.113A>G (p.Glu38Gly)
c.27-47022A>G (n.27-47022A>G)
 dbSNP
2g.31580788T>GCA1600033SRD5A2c.113A>C (p.Glu38Ala)
c.27-47022A>C (n.27-47022A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580788T=CA1242221123SRD5A2c.113A= (p.Glu38=)
c.27-47022A= (n.27-47022A=)
2g.31580789C>ACA346599078SRD5A2c.112G>T (p.Glu38Ter)
c.27-47023G>T (n.27-47023G>T)
 dbSNP gnomAD v4
2g.31580789C=CA1242221124SRD5A2c.112G= (p.Glu38=)
c.27-47023G= (n.27-47023G=)
2g.31580789C>GCA346599079SRD5A2c.112G>C (p.Glu38Gln)
c.27-47023G>C (n.27-47023G>C)
2g.31580789C>TCA346599080SRD5A2c.112G>A (p.Glu38Lys)
c.27-47023G>A (n.27-47023G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.31580790C=CA1242221125SRD5A2c.111G= (p.Thr37=)
c.27-47024G= (n.27-47024G=)
2g.31580790C>GCA2658512714SRD5A2c.111G>C (p.Thr37=)
c.27-47024G>C (n.27-47024G>C)
 ClinVar gnomAD v4
2g.31580790C>TCA767788253SRD5A2c.111G>A (p.Thr37=)
c.27-47024G>A (n.27-47024G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched