Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31526239_31526259dupCA531769396SRD5A2c.707_727dup (p.Tyr242_Pro243insLeuLysMetPheGluAspTyr)
c.485_505dup (p.Tyr168_Pro169insLeuLysMetPheGluAspTyr)
c.452_472dup (p.Tyr157_Pro158insLeuLysMetPheGluAspTyr)
 dbSNP gnomAD v2 gnomAD v4
2g.31526257T>ACA1599849SRD5A2c.704A>T (p.Tyr235Phe)
c.482A>T (p.Tyr161Phe)
c.449A>T (p.Tyr150Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526257T>CCA346597817SRD5A2c.704A>G (p.Tyr235Cys)
c.482A>G (p.Tyr161Cys)
c.449A>G (p.Tyr150Cys)
2g.31526257T>GCA346597818SRD5A2c.704A>C (p.Tyr235Ser)
c.482A>C (p.Tyr161Ser)
c.449A>C (p.Tyr150Ser)
 gnomAD v4
2g.31526257T=CA1242195960SRD5A2c.704A= (p.Tyr235=)
c.482A= (p.Tyr161=)
c.449A= (p.Tyr150=)
2g.31526258A>CCA346597819SRD5A2c.703T>G (p.Tyr235Asp)
c.481T>G (p.Tyr161Asp)
c.448T>G (p.Tyr150Asp)
2g.31526258A>GCA346597820SRD5A2c.703T>C (p.Tyr235His)
c.481T>C (p.Tyr161His)
c.448T>C (p.Tyr150His)
 ClinVar gnomAD v4
2g.31526258A>TCA346597821SRD5A2c.703T>A (p.Tyr235Asn)
c.481T>A (p.Tyr161Asn)
c.448T>A (p.Tyr150Asn)
2g.31526259G>ACA425566657SRD5A2c.702C>T (p.Phe234=)
c.480C>T (p.Phe160=)
c.447C>T (p.Phe149=)
2g.31526259G>CCA224922SRD5A2c.702C>G (p.Phe234Leu)
c.480C>G (p.Phe160Leu)
c.447C>G (p.Phe149Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526259G=CA1242195961SRD5A2c.702C= (p.Phe234=)
c.480C= (p.Phe160=)
c.447C= (p.Phe149=)
2g.31526259G>TCA346597822SRD5A2c.702C>A (p.Phe234Leu)
c.480C>A (p.Phe160Leu)
c.447C>A (p.Phe149Leu)
 gnomAD v4
2g.31526260A>CCA346597823SRD5A2c.701T>G (p.Phe234Cys)
c.479T>G (p.Phe160Cys)
c.446T>G (p.Phe149Cys)
2g.31526260A>GCA346597824SRD5A2c.701T>C (p.Phe234Ser)
c.479T>C (p.Phe160Ser)
c.446T>C (p.Phe149Ser)
 gnomAD v4
2g.31526260A>TCA346597825SRD5A2c.701T>A (p.Phe234Tyr)
c.479T>A (p.Phe160Tyr)
c.446T>A (p.Phe149Tyr)
2g.31526261A=CA1242195962SRD5A2c.700T= (p.Phe234=)
c.478T= (p.Phe160=)
c.445T= (p.Phe149=)
2g.31526261A>CCA346597827SRD5A2c.700T>G (p.Phe234Val)
c.478T>G (p.Phe160Val)
c.445T>G (p.Phe149Val)
2g.31526261A>GCA346597828SRD5A2c.700T>C (p.Phe234Leu)
c.478T>C (p.Phe160Leu)
c.445T>C (p.Phe149Leu)
 dbSNP gnomAD v2
2g.31526261A>TCA346597826SRD5A2c.700T>A (p.Phe234Ile)
c.478T>A (p.Phe160Ile)
c.445T>A (p.Phe149Ile)
2g.31526262C>ACA346597829SRD5A2c.699G>T (p.Arg233Ser)
c.477G>T (p.Arg159Ser)
c.444G>T (p.Arg148Ser)
 gnomAD v4
2g.31526262C=CA1242195963SRD5A2c.699G= (p.Arg233=)
c.477G= (p.Arg159=)
c.444G= (p.Arg148=)
2g.31526262C>GCA346597830SRD5A2c.699G>C (p.Arg233Ser)
c.477G>C (p.Arg159Ser)
c.444G>C (p.Arg148Ser)
2g.31526262C>TCA1599850SRD5A2c.699G>A (p.Arg233=)
c.477G>A (p.Arg159=)
c.444G>A (p.Arg148=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526263delCA2658512522SRD5A2c.699del
c.477del
c.444del
 gnomAD v4
2g.31526263C>ACA346597831SRD5A2c.699-1G>T (n.699-1G>T)
c.477-1G>T (n.477-1G>T)
c.444-1G>T (n.444-1G>T)
 gnomAD v4
2g.31526263C>GCA346597832SRD5A2c.699-1G>C (n.699-1G>C)
c.477-1G>C (n.477-1G>C)
c.444-1G>C (n.444-1G>C)
2g.31526263C>TCA346597833SRD5A2c.699-1G>A (n.699-1G>A)
c.477-1G>A (n.477-1G>A)
c.444-1G>A (n.444-1G>A)
 ClinVar gnomAD v4
2g.31526264T>ACA346597834SRD5A2c.699-2A>T (n.699-2A>T)
c.477-2A>T (n.477-2A>T)
c.444-2A>T (n.444-2A>T)
 gnomAD v4
2g.31526264T>CCA45135977SRD5A2c.699-2A>G (n.699-2A>G)
c.477-2A>G (n.477-2A>G)
c.444-2A>G (n.444-2A>G)
 dbSNP gnomAD v4
2g.31526264T>GCA346597835SRD5A2c.699-2A>C (n.699-2A>C)
c.477-2A>C (n.477-2A>C)
c.444-2A>C (n.444-2A>C)
 gnomAD v4
2g.31526264T=CA1242195964SRD5A2c.699-2A= (n.699-2A=)
c.477-2A= (n.477-2A=)
c.444-2A= (n.444-2A=)
2g.31526265A=CA1242195965SRD5A2c.699-3T= (n.699-3T=)
c.477-3T= (n.477-3T=)
c.444-3T= (n.444-3T=)
2g.31526265A>GCA1599851SRD5A2c.699-3T>C (n.699-3T>C)
c.477-3T>C (n.477-3T>C)
c.444-3T>C (n.444-3T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31526268delCA2576929360SRD5A2c.699-3del (n.699-3del)
c.477-3del (n.477-3del)
c.444-3del (n.444-3del)
 gnomAD v4
2g.31526266A>CCA2658512524SRD5A2c.699-4T>G (n.699-4T>G)
c.477-4T>G (n.477-4T>G)
c.444-4T>G (n.444-4T>G)
 gnomAD v4
2g.31526266A>GCA2658512523SRD5A2c.699-4T>C (n.699-4T>C)
c.477-4T>C (n.477-4T>C)
c.444-4T>C (n.444-4T>C)
 gnomAD v4
2g.31526267A>GCA2658512525SRD5A2c.699-5T>C (n.699-5T>C)
c.477-5T>C (n.477-5T>C)
c.444-5T>C (n.444-5T>C)
 gnomAD v4
2g.31526267A>TCA2658512526SRD5A2c.699-5T>A (n.699-5T>A)
c.477-5T>A (n.477-5T>A)
c.444-5T>A (n.444-5T>A)
 gnomAD v4
2g.31526271_31526275delCA2740260369SRD5A2c.699-9_699-5del (n.699-9_699-5del)
c.477-9_477-5del (n.477-9_477-5del)
c.444-9_444-5del (n.444-9_444-5del)
2g.31526268A>GCA2658512527SRD5A2c.699-6T>C (n.699-6T>C)
c.477-6T>C (n.477-6T>C)
c.444-6T>C (n.444-6T>C)
 gnomAD v4
2g.31526269G>ACA531769397SRD5A2c.699-7C>T (n.699-7C>T)
c.477-7C>T (n.477-7C>T)
c.444-7C>T (n.444-7C>T)
 dbSNP gnomAD v2
2g.31526269G=CA1242195966SRD5A2c.699-7C= (n.699-7C=)
c.477-7C= (n.477-7C=)
c.444-7C= (n.444-7C=)
2g.31526269G>TCA2658512528SRD5A2c.699-7C>A (n.699-7C>A)
c.477-7C>A (n.477-7C>A)
c.444-7C>A (n.444-7C>A)
 gnomAD v4
2g.31526270A>TCA2658512529SRD5A2c.699-8T>A (n.699-8T>A)
c.477-8T>A (n.477-8T>A)
c.444-8T>A (n.444-8T>A)
 gnomAD v4
2g.31526271C>ACA2658512530SRD5A2c.699-9G>T (n.699-9G>T)
c.477-9G>T (n.477-9G>T)
c.444-9G>T (n.444-9G>T)
 gnomAD v4
2g.31526271C>TCA2658512531SRD5A2c.699-9G>A (n.699-9G>A)
c.477-9G>A (n.477-9G>A)
c.444-9G>A (n.444-9G>A)
 gnomAD v4
2g.31526272A=CA1242195967SRD5A2c.699-10T= (n.699-10T=)
c.477-10T= (n.477-10T=)
c.444-10T= (n.444-10T=)
2g.31526272A>GCA531769398SRD5A2c.699-10T>C (n.699-10T>C)
c.477-10T>C (n.477-10T>C)
c.444-10T>C (n.444-10T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.31526274G>CCA1028961306SRD5A2c.699-12C>G (n.699-12C>G)
c.477-12C>G (n.477-12C>G)
c.444-12C>G (n.444-12C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.31526274G=CA1242195968SRD5A2c.699-12C= (n.699-12C=)
c.477-12C= (n.477-12C=)
c.444-12C= (n.444-12C=)

Number of alleles fetched