Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31580806C>ACA346599117SRD5A2c.95G>T (p.Gly32Val)
c.27-47040G>T (n.27-47040G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31580806C=CA1242221137SRD5A2c.95G= (p.Gly32=)
c.27-47040G= (n.27-47040G=)
2g.31580806C>GCA346599118SRD5A2c.95G>C (p.Gly32Ala)
c.27-47040G>C (n.27-47040G>C)
gnomAD v4
2g.31580806C>TCA346599119SRD5A2c.95G>A (p.Gly32Asp)
c.27-47040G>A (n.27-47040G>A)
gnomAD v4
2g.31580806_31580820delinsCCGGAGGGCTTCGCGCA1242221138SRD5A2c.81_95delinsCGCGAAGCCCTCCGG (p.Val27=)
c.27-47054_27-47040delinsCGCGAAGCCCTCCGG (n.27-47054_27-47040delinsCGCGAAGCCCTCCGG)
2g.31580807C>ACA346599120SRD5A2c.94G>T (p.Gly32Cys)
c.27-47041G>T (n.27-47041G>T)
gnomAD v4
2g.31580807C=CA1242221139SRD5A2c.94G= (p.Gly32=)
c.27-47041G= (n.27-47041G=)
2g.31580807C>GCA346599121SRD5A2c.94G>C (p.Gly32Arg)
c.27-47041G>C (n.27-47041G>C)
2g.31580807C>TCA346599122SRD5A2c.94G>A (p.Gly32Ser)
c.27-47041G>A (n.27-47041G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31580807_31580820delCA1139656817SRD5A2c.81_94del (p.Ala28LeufsTer?)
c.27-47054_27-47041del (n.27-47054_27-47041del)
ClinVar dbSNP gnomAD v4
2g.31580808G>ACA45142059SRD5A2c.93C>T (p.Ser31=)
c.27-47042C>T (n.27-47042C>T)
ClinVar dbSNP gnomAD v4
2g.31580808G=CA1242221140SRD5A2c.93C= (p.Ser31=)
c.27-47042C= (n.27-47042C=)
2g.31580808G>TCA767788289SRD5A2c.93C>A (p.Ser31=)
c.27-47042C>A (n.27-47042C>A)
dbSNP gnomAD v4
2g.31580809dupCA646614967SRD5A2c.93dup (p.Gly32ArgfsTer?)
c.27-47042dup (n.27-47042dup)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.31580809G>ACA346599123SRD5A2c.92C>T (p.Ser31Phe)
c.27-47043C>T (n.27-47043C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31580809G>CCA45142060SRD5A2c.92C>G (p.Ser31Cys)
c.27-47043C>G (n.27-47043C>G)
dbSNP gnomAD v4
2g.31580809G=CA1242221141SRD5A2c.92C= (p.Ser31=)
c.27-47043C= (n.27-47043C=)
2g.31580809G>TCA346599124SRD5A2c.92C>A (p.Ser31Tyr)
c.27-47043C>A (n.27-47043C>A)
2g.31580810A=CA1242221142SRD5A2c.91T= (p.Ser31=)
c.27-47044T= (n.27-47044T=)
2g.31580810A>CCA346599125SRD5A2c.91T>G (p.Ser31Ala)
c.27-47044T>G (n.27-47044T>G)
2g.31580810A>GCA346599126SRD5A2c.91T>C (p.Ser31Pro)
c.27-47044T>C (n.27-47044T>C)
dbSNP COSMIC
2g.31580810A>TCA346599127SRD5A2c.91T>A (p.Ser31Thr)
c.27-47044T>A (n.27-47044T>A)
2g.31580811G>ACA1242221144SRD5A2c.90C>T (p.Pro30=)
c.27-47045C>T (n.27-47045C>T)
dbSNP
2g.31580811G=CA1242221143SRD5A2c.90C= (p.Pro30=)
c.27-47045C= (n.27-47045C=)
2g.31580813dupCA45142061SRD5A2c.90dup (p.Ser31LeufsTer?)
c.27-47045dup (n.27-47045dup)
ClinVar dbSNP COSMIC COSMIC COSMIC
2g.31580813delCA2658512715SRD5A2c.90del (p.Ser31ProfsTer10)
c.27-47045del (n.27-47045del)
gnomAD v4
2g.31580811_31580812insACA45142063SRD5A2c.89_90insT (p.Ser31LeufsTer?)
c.27-47046_27-47045insT (n.27-47046_27-47045insT)
ClinVar dbSNP
2g.31580811_31580812insTCA45142062SRD5A2c.89_90insA (p.Ser31LeufsTer?)
c.27-47046_27-47045insA (n.27-47046_27-47045insA)
2g.31580812G>ACA346599128SRD5A2c.89C>T (p.Pro30Leu)
c.27-47046C>T (n.27-47046C>T)
gnomAD v4
2g.31580812G>CCA346599129SRD5A2c.89C>G (p.Pro30Arg)
c.27-47046C>G (n.27-47046C>G)
2g.31580812G=CA1242221145SRD5A2c.89C= (p.Pro30=)
c.27-47046C= (n.27-47046C=)
2g.31580812G>TCA346599130SRD5A2c.89C>A (p.Pro30His)
c.27-47046C>A (n.27-47046C>A)
2g.31580812_31580813insACA767788318SRD5A2c.88_89insT (p.Pro30LeufsTer?)
c.27-47047_27-47046insT (n.27-47047_27-47046insT)
dbSNP
2g.31580813G>ACA346599132SRD5A2c.88C>T (p.Pro30Ser)
c.27-47047C>T (n.27-47047C>T)
2g.31580813G>CCA346599133SRD5A2c.88C>G (p.Pro30Ala)
c.27-47047C>G (n.27-47047C>G)
2g.31580813G>TCA346599131SRD5A2c.88C>A (p.Pro30Thr)
c.27-47047C>A (n.27-47047C>A)
gnomAD v4
2g.31580813_31580817delinsGCTTCCA1242221146SRD5A2c.84_88delinsGAAGC (p.Ala28=)
c.27-47051_27-47047delinsGAAGC (n.27-47051_27-47047delinsGAAGC)
2g.31580814_31580820delCA2697547977SRD5A2c.82_88del (p.Ala28ProfsTer11)
c.27-47053_27-47047del (n.27-47053_27-47047del)
ClinVar
2g.31580814C>ACA346599134SRD5A2c.87G>T (p.Lys29Asn)
c.27-47048G>T (n.27-47048G>T)
gnomAD v4
2g.31580814C>GCA346599135SRD5A2c.87G>C (p.Lys29Asn)
c.27-47048G>C (n.27-47048G>C)
2g.31580814_31580817delCA767788321SRD5A2c.84_87del (p.Lys29ProfsTer11)
c.27-47051_27-47048del (n.27-47051_27-47048del)
dbSNP
2g.31580815_31580822delCA2586969050SRD5A2c.80_87del (p.Val27AlafsTer?)
c.27-47055_27-47048del (n.27-47055_27-47048del)
ClinVar gnomAD v4
2g.31580815T>ACA346599136SRD5A2c.86A>T (p.Lys29Met)
c.27-47049A>T (n.27-47049A>T)
2g.31580815T>CCA346599137SRD5A2c.86A>G (p.Lys29Arg)
c.27-47049A>G (n.27-47049A>G)
dbSNP gnomAD v3 gnomAD v4
2g.31580815T>GCA346599138SRD5A2c.86A>C (p.Lys29Thr)
c.27-47049A>C (n.27-47049A>C)
2g.31580815T=CA1242221147SRD5A2c.86A= (p.Lys29=)
c.27-47049A= (n.27-47049A=)
2g.31580816T>ACA346599139SRD5A2c.85A>T (p.Lys29Ter)
c.27-47050A>T (n.27-47050A>T)
2g.31580816T>CCA346599140SRD5A2c.85A>G (p.Lys29Glu)
c.27-47050A>G (n.27-47050A>G)
2g.31580816T>GCA346599141SRD5A2c.85A>C (p.Lys29Gln)
c.27-47050A>C (n.27-47050A>C)
2g.31580817C=CA1242221148SRD5A2c.84G= (p.Ala28=)
c.27-47051G= (n.27-47051G=)
2g.31580817C>TCA767788331SRD5A2c.84G>A (p.Ala28=)
c.27-47051G>A (n.27-47051G>A)
ClinVar dbSNP gnomAD v4
2g.31580818G>ACA346599142SRD5A2c.83C>T (p.Ala28Val)
c.27-47052C>T (n.27-47052C>T)
gnomAD v4
2g.31580818G>CCA346599143SRD5A2c.83C>G (p.Ala28Gly)
c.27-47052C>G (n.27-47052C>G)
2g.31580818G=CA1242221149SRD5A2c.83C= (p.Ala28=)
c.27-47052C= (n.27-47052C=)
2g.31580818G>TCA346599144SRD5A2c.83C>A (p.Ala28Glu)
c.27-47052C>A (n.27-47052C>A)
dbSNP gnomAD v4
2g.31580818_31580821delinsGCGACA1242221150SRD5A2c.80_83delinsTCGC (p.Val27=)
c.27-47055_27-47052delinsTCGC (n.27-47055_27-47052delinsTCGC)
2g.31580819C>ACA346599146SRD5A2c.82G>T (p.Ala28Ser)
c.27-47053G>T (n.27-47053G>T)
2g.31580819C=CA1242221151SRD5A2c.82G= (p.Ala28=)
c.27-47053G= (n.27-47053G=)
2g.31580819C>GCA346599147SRD5A2c.82G>C (p.Ala28Pro)
c.27-47053G>C (n.27-47053G>C)
2g.31580819C>TCA346599145SRD5A2c.82G>A (p.Ala28Thr)
c.27-47053G>A (n.27-47053G>A)
dbSNP gnomAD v3 gnomAD v4
2g.31580821_31580823delCA767788334SRD5A2c.80_82del (p.Val27del)
c.27-47055_27-47053del (n.27-47055_27-47053del)
dbSNP
2g.31580820G>ACA2697547978SRD5A2c.81C>T (p.Val27=)
c.27-47054C>T (n.27-47054C>T)
ClinVar
2g.31580820G>CCA2697547979SRD5A2c.81C>G (p.Val27=)
c.27-47054C>G (n.27-47054C>G)
ClinVar
2g.31580820G>TCA2658512716SRD5A2c.81C>A (p.Val27=)
c.27-47054C>A (n.27-47054C>A)
gnomAD v4
2g.31580821A>CCA346599148SRD5A2c.80T>G (p.Val27Gly)
c.27-47055T>G (n.27-47055T>G)
2g.31580821A>GCA346599149SRD5A2c.80T>C (p.Val27Ala)
c.27-47055T>C (n.27-47055T>C)
2g.31580821A>TCA346599150SRD5A2c.80T>A (p.Val27Asp)
c.27-47055T>A (n.27-47055T>A)
2g.31580822C>ACA346599151SRD5A2c.79G>T (p.Val27Phe)
c.27-47056G>T (n.27-47056G>T)
2g.31580822C>GCA346599152SRD5A2c.79G>C (p.Val27Leu)
c.27-47056G>C (n.27-47056G>C)
2g.31580822C>TCA346599153SRD5A2c.79G>A (p.Val27Ile)
c.27-47056G>A (n.27-47056G>A)
gnomAD v4 COSMIC
2g.31580823G>ACA767788344SRD5A2c.78C>T (p.Tyr26=)
c.27-47057C>T (n.27-47057C>T)
ClinVar dbSNP gnomAD v4
2g.31580823G>CCA346599154SRD5A2c.78C>G (p.Tyr26Ter)
c.27-47057C>G (n.27-47057C>G)
ClinVar dbSNP gnomAD v4
2g.31580823G=CA1242221152SRD5A2c.78C= (p.Tyr26=)
c.27-47057C= (n.27-47057C=)
2g.31580823G>TCA346599155SRD5A2c.78C>A (p.Tyr26Ter)
c.27-47057C>A (n.27-47057C>A)
2g.31580824T>ACA346599156SRD5A2c.77A>T (p.Tyr26Phe)
c.27-47058A>T (n.27-47058A>T)
2g.31580824T>CCA346599157SRD5A2c.77A>G (p.Tyr26Cys)
c.27-47058A>G (n.27-47058A>G)
2g.31580824T>GCA346599158SRD5A2c.77A>C (p.Tyr26Ser)
c.27-47058A>C (n.27-47058A>C)
2g.31580825A=CA1242221153SRD5A2c.76T= (p.Tyr26=)
c.27-47059T= (n.27-47059T=)
2g.31580825A>CCA346599159SRD5A2c.76T>G (p.Tyr26Asp)
c.27-47059T>G (n.27-47059T>G)
2g.31580825A>GCA346599160SRD5A2c.76T>C (p.Tyr26His)
c.27-47059T>C (n.27-47059T>C)
dbSNP gnomAD v4
2g.31580825A>TCA346599161SRD5A2c.76T>A (p.Tyr26Asn)
c.27-47059T>A (n.27-47059T>A)
gnomAD v4
2g.31580826C>ACA346599162SRD5A2c.75G>T (p.Leu25Phe)
c.27-47060G>T (n.27-47060G>T)
2g.31580826C=CA1242221154SRD5A2c.75G= (p.Leu25=)
c.27-47060G= (n.27-47060G=)
2g.31580826C>GCA346599163SRD5A2c.75G>C (p.Leu25Phe)
c.27-47060G>C (n.27-47060G>C)
2g.31580826C>TCA45142064SRD5A2c.75G>A (p.Leu25=)
c.27-47060G>A (n.27-47060G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31580827A=CA1242221155SRD5A2c.74T= (p.Leu25=)
c.27-47061T= (n.27-47061T=)
2g.31580827A>CCA346599164SRD5A2c.74T>G (p.Leu25Trp)
c.27-47061T>G (n.27-47061T>G)
2g.31580827A>GCA346599165SRD5A2c.74T>C (p.Leu25Ser)
c.27-47061T>C (n.27-47061T>C)
dbSNP
2g.31580827A>TCA346599166SRD5A2c.74T>A (p.Leu25Ter)
c.27-47061T>A (n.27-47061T>A)
2g.31580828A>CCA346599167SRD5A2c.73T>G (p.Leu25Val)
c.27-47062T>G (n.27-47062T>G)
2g.31580828A>TCA346599168SRD5A2c.73T>A (p.Leu25Met)
c.27-47062T>A (n.27-47062T>A)
2g.31580829G>CCA2658512717SRD5A2c.72C>G (p.Ala24=)
c.27-47063C>G (n.27-47063C>G)
ClinVar gnomAD v4
2g.31580830G>ACA346599169SRD5A2c.71C>T (p.Ala24Val)
c.27-47064C>T (n.27-47064C>T)
dbSNP gnomAD v3 gnomAD v4
2g.31580830G>CCA346599170SRD5A2c.71C>G (p.Ala24Gly)
c.27-47064C>G (n.27-47064C>G)
2g.31580830G=CA1242221156SRD5A2c.71C= (p.Ala24=)
c.27-47064C= (n.27-47064C=)
2g.31580830G>TCA346599171SRD5A2c.71C>A (p.Ala24Asp)
c.27-47064C>A (n.27-47064C>A)
2g.31580831C>ACA346599172SRD5A2c.70G>T (p.Ala24Ser)
c.27-47065G>T (n.27-47065G>T)
2g.31580831C>GCA346599173SRD5A2c.70G>C (p.Ala24Pro)
c.27-47065G>C (n.27-47065G>C)
2g.31580831C>TCA346599174SRD5A2c.70G>A (p.Ala24Thr)
c.27-47065G>A (n.27-47065G>A)
2g.31580832C=CA1242221157SRD5A2c.69G= (p.Leu23=)
c.27-47066G= (n.27-47066G=)
2g.31580832C>TCA767788363SRD5A2c.69G>A (p.Leu23=)
c.27-47066G>A (n.27-47066G>A)
dbSNP gnomAD v4
2g.31580833A>CCA346599175SRD5A2c.68T>G (p.Leu23Arg)
c.27-47067T>G (n.27-47067T>G)
2g.31580833A>GCA346599176SRD5A2c.68T>C (p.Leu23Pro)
c.27-47067T>C (n.27-47067T>C)
2g.31580833A>TCA346599177SRD5A2c.68T>A (p.Leu23Gln)
c.27-47067T>A (n.27-47067T>A)
2g.31580834G>ACA425626857SRD5A2c.67C>T (p.Leu23=)
c.27-47068C>T (n.27-47068C>T)
gnomAD v4
2g.31580834G>CCA346599179SRD5A2c.67C>G (p.Leu23Val)
c.27-47068C>G (n.27-47068C>G)
2g.31580834G>TCA346599178SRD5A2c.67C>A (p.Leu23Met)
c.27-47068C>A (n.27-47068C>A)
2g.31580835T>ACA425626862SRD5A2c.66A>T (p.Ala22=)
c.27-47069A>T (n.27-47069A>T)
2g.31580835T>CCA425626866SRD5A2c.66A>G (p.Ala22=)
c.27-47069A>G (n.27-47069A>G)
2g.31580835T>GCA425626869SRD5A2c.66A>C (p.Ala22=)
c.27-47069A>C (n.27-47069A>C)
2g.31580836G>ACA346599180SRD5A2c.65C>T (p.Ala22Val)
c.27-47070C>T (n.27-47070C>T)
gnomAD v4
2g.31580836G>CCA346599181SRD5A2c.65C>G (p.Ala22Gly)
c.27-47070C>G (n.27-47070C>G)
2g.31580836G=CA1242221158SRD5A2c.65C= (p.Ala22=)
c.27-47070C= (n.27-47070C=)
2g.31580836G>TCA346599182SRD5A2c.65C>A (p.Ala22Glu)
c.27-47070C>A (n.27-47070C>A)
2g.31580837C>ACA346599183SRD5A2c.64G>T (p.Ala22Ser)
c.27-47071G>T (n.27-47071G>T)
dbSNP gnomAD v2 gnomAD v4
2g.31580837C=CA1242221159SRD5A2c.64G= (p.Ala22=)
c.27-47071G= (n.27-47071G=)
2g.31580837C>GCA346599184SRD5A2c.64G>C (p.Ala22Pro)
c.27-47071G>C (n.27-47071G>C)
2g.31580837C>TCA346599185SRD5A2c.64G>A (p.Ala22Thr)
c.27-47071G>A (n.27-47071G>A)
2g.31580840dupCA1600034SRD5A2c.64dup (p.Ala22GlyfsTer?)
c.27-47071dup (n.27-47071dup)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580838C>ACA425626876SRD5A2c.63G>T (p.Gly21=)
c.27-47072G>T (n.27-47072G>T)
2g.31580838C>GCA425626878SRD5A2c.63G>C (p.Gly21=)
c.27-47072G>C (n.27-47072G>C)
2g.31580838C>TCA425626881SRD5A2c.63G>A (p.Gly21=)
c.27-47072G>A (n.27-47072G>A)
2g.31580839C>ACA346599186SRD5A2c.62G>T (p.Gly21Val)
c.27-47073G>T (n.27-47073G>T)
2g.31580839C>GCA346599187SRD5A2c.62G>C (p.Gly21Ala)
c.27-47073G>C (n.27-47073G>C)
2g.31580839C>TCA346599188SRD5A2c.62G>A (p.Gly21Glu)
c.27-47073G>A (n.27-47073G>A)
2g.31580840C>ACA346599189SRD5A2c.61G>T (p.Gly21Trp)
c.27-47074G>T (n.27-47074G>T)
2g.31580840C=CA1242221160SRD5A2c.61G= (p.Gly21=)
c.27-47074G= (n.27-47074G=)
2g.31580840C>GCA346599190SRD5A2c.61G>C (p.Gly21Arg)
c.27-47074G>C (n.27-47074G>C)
ClinVar dbSNP
2g.31580840C>TCA346599191SRD5A2c.61G>A (p.Gly21Arg)
c.27-47074G>A (n.27-47074G>A)
dbSNP gnomAD v2 gnomAD v4
2g.31580841A>CCA425626898SRD5A2c.60T>G (p.Leu20=)
c.27-47075T>G (n.27-47075T>G)
2g.31580841A>GCA425626896SRD5A2c.60T>C (p.Leu20=)
c.27-47075T>C (n.27-47075T>C)
2g.31580841A>TCA425626897SRD5A2c.60T>A (p.Leu20=)
c.27-47075T>A (n.27-47075T>A)
2g.31580842A=CA1242221161SRD5A2c.59T= (p.Leu20=)
c.27-47076T= (n.27-47076T=)
2g.31580842A>CCA346599192SRD5A2c.59T>G (p.Leu20Arg)
c.27-47076T>G (n.27-47076T>G)
gnomAD v4
2g.31580842A>GCA1600035SRD5A2c.59T>C (p.Leu20Pro)
c.27-47076T>C (n.27-47076T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580842A>TCA346599193SRD5A2c.59T>A (p.Leu20His)
c.27-47076T>A (n.27-47076T>A)
2g.31580843G>ACA346599194SRD5A2c.58C>T (p.Leu20Phe)
c.27-47077C>T (n.27-47077C>T)
2g.31580843G>CCA346599195SRD5A2c.58C>G (p.Leu20Val)
c.27-47077C>G (n.27-47077C>G)
dbSNP gnomAD v2 gnomAD v4
2g.31580843G=CA1242221162SRD5A2c.58C= (p.Leu20=)
c.27-47077C= (n.27-47077C=)
2g.31580843G>TCA346599196SRD5A2c.58C>A (p.Leu20Ile)
c.27-47077C>A (n.27-47077C>A)
2g.31580844G>ACA425626912SRD5A2c.57C>T (p.Ala19=)
c.27-47078C>T (n.27-47078C>T)
gnomAD v4 COSMIC
2g.31580844G>CCA425626918SRD5A2c.57C>G (p.Ala19=)
c.27-47078C>G (n.27-47078C>G)
gnomAD v4
2g.31580844G>TCA425626919SRD5A2c.57C>A (p.Ala19=)
c.27-47078C>A (n.27-47078C>A)
2g.31580845G>ACA346599197SRD5A2c.56C>T (p.Ala19Val)
c.27-47079C>T (n.27-47079C>T)
2g.31580845G>CCA346599198SRD5A2c.56C>G (p.Ala19Gly)
c.27-47079C>G (n.27-47079C>G)
2g.31580845G>TCA346599199SRD5A2c.56C>A (p.Ala19Asp)
c.27-47079C>A (n.27-47079C>A)
2g.31580846C>ACA346599200SRD5A2c.55G>T (p.Ala19Ser)
c.27-47080G>T (n.27-47080G>T)
2g.31580846C>GCA346599201SRD5A2c.55G>C (p.Ala19Pro)
c.27-47080G>C (n.27-47080G>C)
2g.31580846C>TCA346599202SRD5A2c.55G>A (p.Ala19Thr)
c.27-47080G>A (n.27-47080G>A)
gnomAD v4 COSMIC
2g.31580847G>ACA1600036SRD5A2c.54C>T (p.Val18=)
c.27-47081C>T (n.27-47081C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580847G>CCA425626934SRD5A2c.54C>G (p.Val18=)
c.27-47081C>G (n.27-47081C>G)
2g.31580847G=CA1242221163SRD5A2c.54C= (p.Val18=)
c.27-47081C= (n.27-47081C=)
2g.31580847G>TCA425626932SRD5A2c.54C>A (p.Val18=)
c.27-47081C>A (n.27-47081C>A)
gnomAD v4
2g.31580848A>CCA346599203SRD5A2c.53T>G (p.Val18Gly)
c.27-47082T>G (n.27-47082T>G)
2g.31580848A>GCA346599204SRD5A2c.53T>C (p.Val18Ala)
c.27-47082T>C (n.27-47082T>C)
gnomAD v4
2g.31580848A>TCA346599205SRD5A2c.53T>A (p.Val18Asp)
c.27-47082T>A (n.27-47082T>A)
2g.31580849C>ACA346599206SRD5A2c.52G>T (p.Val18Phe)
c.27-47083G>T (n.27-47083G>T)
2g.31580849C=CA1242221164SRD5A2c.52G= (p.Val18=)
c.27-47083G= (n.27-47083G=)
2g.31580849C>GCA346599208SRD5A2c.52G>C (p.Val18Leu)
c.27-47083G>C (n.27-47083G>C)
2g.31580849C>TCA346599207SRD5A2c.52G>A (p.Val18Ile)
c.27-47083G>A (n.27-47083G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580850C>ACA346599209SRD5A2c.51G>T (p.Leu17Phe)
c.27-47084G>T (n.27-47084G>T)
dbSNP gnomAD v2 gnomAD v4
2g.31580850C=CA1242221165SRD5A2c.51G= (p.Leu17=)
c.27-47084G= (n.27-47084G=)
2g.31580850C>GCA346599210SRD5A2c.51G>C (p.Leu17Phe)
c.27-47084G>C (n.27-47084G>C)
gnomAD v4
2g.31580850C>TCA425626956SRD5A2c.51G>A (p.Leu17=)
c.27-47084G>A (n.27-47084G>A)
2g.31580851A=CA1242221166SRD5A2c.50T= (p.Leu17=)
c.27-47085T= (n.27-47085T=)
2g.31580851A>CCA346599211SRD5A2c.50T>G (p.Leu17Trp)
c.27-47085T>G (n.27-47085T>G)
2g.31580851A>GCA346599212SRD5A2c.50T>C (p.Leu17Ser)
c.27-47085T>C (n.27-47085T>C)
dbSNP gnomAD v3 gnomAD v4
2g.31580851A>TCA346599213SRD5A2c.50T>A (p.Leu17Ter)
c.27-47085T>A (n.27-47085T>A)
2g.31580852A=CA1242221167SRD5A2c.49T= (p.Leu17=)
c.27-47086T= (n.27-47086T=)
2g.31580852A>CCA346599214SRD5A2c.49T>G (p.Leu17Val)
c.27-47086T>G (n.27-47086T>G)
dbSNP gnomAD v2 gnomAD v4
2g.31580852A>GCA425626970SRD5A2c.49T>C (p.Leu17=)
c.27-47086T>C (n.27-47086T>C)
2g.31580852A>TCA346599215SRD5A2c.49T>A (p.Leu17Met)
c.27-47086T>A (n.27-47086T>A)
2g.31580853A>CCA425626973SRD5A2c.48T>G (p.Thr16=)
c.27-47087T>G (n.27-47087T>G)
2g.31580853A>GCA425626979SRD5A2c.48T>C (p.Thr16=)
c.27-47087T>C (n.27-47087T>C)
2g.31580853A>TCA425626981SRD5A2c.48T>A (p.Thr16=)
c.27-47087T>A (n.27-47087T>A)
2g.31580854G>ACA346599216SRD5A2c.47C>T (p.Thr16Ile)
c.27-47088C>T (n.27-47088C>T)
2g.31580854G>CCA1600037SRD5A2c.47C>G (p.Thr16Ser)
c.27-47088C>G (n.27-47088C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580854G=CA1242221168SRD5A2c.47C= (p.Thr16=)
c.27-47088C= (n.27-47088C=)
2g.31580854G>TCA346599217SRD5A2c.47C>A (p.Thr16Asn)
c.27-47088C>A (n.27-47088C>A)
2g.31580855T>ACA1600038SRD5A2c.46A>T (p.Thr16Ser)
c.27-47089A>T (n.27-47089A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580855T>CCA346599219SRD5A2c.46A>G (p.Thr16Ala)
c.27-47089A>G (n.27-47089A>G)
2g.31580855T>GCA346599218SRD5A2c.46A>C (p.Thr16Pro)
c.27-47089A>C (n.27-47089A>C)
2g.31580855T=CA1242221169SRD5A2c.46A= (p.Thr16=)
c.27-47089A= (n.27-47089A=)
2g.31580856G>ACA425626997SRD5A2c.45C>T (p.Ala15=)
c.27-47090C>T (n.27-47090C>T)
gnomAD v4
2g.31580856G>CCA425626996SRD5A2c.45C>G (p.Ala15=)
c.27-47090C>G (n.27-47090C>G)
2g.31580856G>TCA425626994SRD5A2c.45C>A (p.Ala15=)
c.27-47090C>A (n.27-47090C>A)
2g.31580857G>ACA346599220SRD5A2c.44C>T (p.Ala15Val)
c.27-47091C>T (n.27-47091C>T)
gnomAD v4
2g.31580857G>CCA346599222SRD5A2c.44C>G (p.Ala15Gly)
c.27-47091C>G (n.27-47091C>G)
2g.31580857G=CA1242221170SRD5A2c.44C= (p.Ala15=)
c.27-47091C= (n.27-47091C=)
2g.31580857G>TCA346599221SRD5A2c.44C>A (p.Ala15Asp)
c.27-47091C>A (n.27-47091C>A)
dbSNP
2g.31580858C>ACA346599223SRD5A2c.43G>T (p.Ala15Ser)
c.27-47092G>T (n.27-47092G>T)
gnomAD v4
2g.31580858C>GCA346599225SRD5A2c.43G>C (p.Ala15Pro)
c.27-47092G>C (n.27-47092G>C)
2g.31580858C>TCA346599224SRD5A2c.43G>A (p.Ala15Thr)
c.27-47092G>A (n.27-47092G>A)
gnomAD v4 COSMIC
2g.31580859G>ACA425627032SRD5A2c.42C>T (p.Ser14=)
c.27-47093C>T (n.27-47093C>T)
gnomAD v4
2g.31580859G>CCA346599226SRD5A2c.42C>G (p.Ser14Arg)
c.27-47093C>G (n.27-47093C>G)
2g.31580859G=CA1242221171SRD5A2c.42C= (p.Ser14=)
c.27-47093C= (n.27-47093C=)
2g.31580859G>TCA1600039SRD5A2c.42C>A (p.Ser14Arg)
c.27-47093C>A (n.27-47093C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580860C>ACA346599227SRD5A2c.41G>T (p.Ser14Ile)
c.27-47094G>T (n.27-47094G>T)
2g.31580860C>GCA346599228SRD5A2c.41G>C (p.Ser14Thr)
c.27-47094G>C (n.27-47094G>C)
2g.31580860C>TCA346599229SRD5A2c.41G>A (p.Ser14Asn)
c.27-47094G>A (n.27-47094G>A)
2g.31580861T>ACA346599230SRD5A2c.40A>T (p.Ser14Cys)
c.27-47095A>T (n.27-47095A>T)
2g.31580861T>CCA346599231SRD5A2c.40A>G (p.Ser14Gly)
c.27-47095A>G (n.27-47095A>G)
2g.31580861T>GCA346599232SRD5A2c.40A>C (p.Ser14Arg)
c.27-47095A>C (n.27-47095A>C)
2g.31580862G>ACA45142065SRD5A2c.39C>T (p.Gly13=)
c.27-47096C>T (n.27-47096C>T)
dbSNP gnomAD v4
2g.31580862G>CCA425627047SRD5A2c.39C>G (p.Gly13=)
c.27-47096C>G (n.27-47096C>G)
2g.31580862G=CA1242221172SRD5A2c.39C= (p.Gly13=)
c.27-47096C= (n.27-47096C=)
2g.31580862G>TCA425627049SRD5A2c.39C>A (p.Gly13=)
c.27-47096C>A (n.27-47096C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31580863C>ACA346599233SRD5A2c.38G>T (p.Gly13Val)
c.27-47097G>T (n.27-47097G>T)
2g.31580863C=CA1242221173SRD5A2c.38G= (p.Gly13=)
c.27-47097G= (n.27-47097G=)
2g.31580863C>GCA346599234SRD5A2c.38G>C (p.Gly13Ala)
c.27-47097G>C (n.27-47097G>C)
2g.31580863C>TCA1600040SRD5A2c.38G>A (p.Gly13Asp)
c.27-47097G>A (n.27-47097G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580864C>ACA346599237SRD5A2c.37G>T (p.Gly13Cys)
c.27-47098G>T (n.27-47098G>T)
2g.31580864C=CA1242221174SRD5A2c.37G= (p.Gly13=)
c.27-47098G= (n.27-47098G=)
2g.31580864C>GCA346599236SRD5A2c.37G>C (p.Gly13Arg)
c.27-47098G>C (n.27-47098G>C)
dbSNP gnomAD v4
2g.31580864C>TCA346599235SRD5A2c.37G>A (p.Gly13Ser)
c.27-47098G>A (n.27-47098G>A)
2g.31580865T>ACA425627059SRD5A2c.36A>T (p.Ala12=)
c.27-47099A>T (n.27-47099A>T)
2g.31580865T>CCA425627060SRD5A2c.36A>G (p.Ala12=)
c.27-47099A>G (n.27-47099A>G)
2g.31580865T>GCA425627063SRD5A2c.36A>C (p.Ala12=)
c.27-47099A>C (n.27-47099A>C)
2g.31580866G>ACA346599238SRD5A2c.35C>T (p.Ala12Val)
c.27-47100C>T (n.27-47100C>T)
gnomAD v4
2g.31580866G>CCA346599239SRD5A2c.35C>G (p.Ala12Gly)
c.27-47100C>G (n.27-47100C>G)
2g.31580866G>TCA346599240SRD5A2c.35C>A (p.Ala12Glu)
c.27-47100C>A (n.27-47100C>A)
ClinVar gnomAD v4
2g.31580866_31580867delinsGCCA1242221175SRD5A2c.34_35delinsGC (p.Ala12=)
c.27-47101_27-47100delinsGC (n.27-47101_27-47100delinsGC)
2g.31580867C>ACA346599241SRD5A2c.34G>T (p.Ala12Ser)
c.27-47101G>T (n.27-47101G>T)
2g.31580867C>GCA346599242SRD5A2c.34G>C (p.Ala12Pro)
c.27-47101G>C (n.27-47101G>C)
2g.31580867C>TCA346599243SRD5A2c.34G>A (p.Ala12Thr)
c.27-47101G>A (n.27-47101G>A)
gnomAD v4 COSMIC
2g.31580867delinsGCTGGCA2586969051SRD5A2c.34delinsCCAGC (p.Ala12ProfsTer?)
c.27-47101delinsCCAGC (n.27-47101delinsCCAGC)
2g.31580868delCA1242221176SRD5A2c.34del (p.Ala12GlnfsTer29)
c.27-47101del (n.27-47101del)
dbSNP
2g.31580868C>ACA425627075SRD5A2c.33G>T (p.Leu11=)
c.27-47102G>T (n.27-47102G>T)
2g.31580868C=CA1242221177SRD5A2c.33G= (p.Leu11=)
c.27-47102G= (n.27-47102G=)
2g.31580868C>GCA425627076SRD5A2c.33G>C (p.Leu11=)
c.27-47102G>C (n.27-47102G>C)
2g.31580868C>TCA425627086SRD5A2c.33G>A (p.Leu11=)
c.27-47102G>A (n.27-47102G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580869A=CA1242221178SRD5A2c.32T= (p.Leu11=)
c.27-47103T= (n.27-47103T=)
2g.31580869A>CCA346599244SRD5A2c.32T>G (p.Leu11Arg)
c.27-47103T>G (n.27-47103T>G)
2g.31580869A>GCA346599245SRD5A2c.32T>C (p.Leu11Pro)
c.27-47103T>C (n.27-47103T>C)
2g.31580869A>TCA1600041SRD5A2c.32T>A (p.Leu11Gln)
c.27-47103T>A (n.27-47103T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580870G>ACA425627095SRD5A2c.31C>T (p.Leu11=)
c.27-47104C>T (n.27-47104C>T)
gnomAD v4
2g.31580870G>CCA346599246SRD5A2c.31C>G (p.Leu11Val)
c.27-47104C>G (n.27-47104C>G)
2g.31580870G>TCA346599247SRD5A2c.31C>A (p.Leu11Met)
c.27-47104C>A (n.27-47104C>A)
gnomAD v4
2g.31580871C>ACA425627100SRD5A2c.30G>T (p.Val10=)
c.27-47105G>T (n.27-47105G>T)
2g.31580871C>GCA425627103SRD5A2c.30G>C (p.Val10=)
c.27-47105G>C (n.27-47105G>C)
2g.31580871C>TCA425627105SRD5A2c.30G>A (p.Val10=)
c.27-47105G>A (n.27-47105G>A)
2g.31580872A>CCA346599250SRD5A2c.29T>G (p.Val10Gly)
c.27-47106T>G (n.27-47106T>G)
2g.31580872A>GCA346599249SRD5A2c.29T>C (p.Val10Ala)
c.27-47106T>C (n.27-47106T>C)
2g.31580872A>TCA346599248SRD5A2c.29T>A (p.Val10Glu)
c.27-47106T>A (n.27-47106T>A)
2g.31580873C>ACA346599251SRD5A2c.28G>T (p.Val10Leu)
c.27-47107G>T (n.27-47107G>T)
2g.31580873C=CA1242221179SRD5A2c.28G= (p.Val10=)
c.27-47107G= (n.27-47107G=)
2g.31580873C>GCA346599252SRD5A2c.28G>C (p.Val10Leu)
c.27-47107G>C (n.27-47107G>C)
2g.31580873C>TCA346599253SRD5A2c.28G>A (p.Val10Met)
c.27-47107G>A (n.27-47107G>A)
dbSNP gnomAD v4
2g.31580874T>ACA425627121SRD5A2c.27A>T (p.Pro9=)
c.27-47108A>T (n.27-47108A>T)
2g.31580874T>CCA425627123SRD5A2c.27A>G (p.Pro9=)
c.27-47108A>G (n.27-47108A>G)
2g.31580874T>GCA425627125SRD5A2c.27A>C (p.Pro9=)
c.27-47108A>C (n.27-47108A>C)
gnomAD v4
2g.31580875G>ACA346599254SRD5A2c.26C>T (p.Pro9Leu)
c.27-47109C>T (n.27-47109C>T)
gnomAD v4
2g.31580875G>CCA346599255SRD5A2c.26C>G (p.Pro9Arg)
c.27-47109C>G (n.27-47109C>G)
2g.31580875G>TCA346599256SRD5A2c.26C>A (p.Pro9Gln)
c.27-47109C>A (n.27-47109C>A)
gnomAD v4
2g.31580876G>ACA45142066SRD5A2c.25C>T (p.Pro9Ser)
c.27-47110C>T (n.27-47110C>T)
ClinVar dbSNP gnomAD v4
2g.31580876G>CCA346599257SRD5A2c.25C>G (p.Pro9Ala)
c.27-47110C>G (n.27-47110C>G)
2g.31580876G=CA1242221180SRD5A2c.25C= (p.Pro9=)
c.27-47110C= (n.27-47110C=)
2g.31580876G>TCA346599258SRD5A2c.25C>A (p.Pro9Thr)
c.27-47110C>A (n.27-47110C>A)
2g.31580877G>ACA425627136SRD5A2c.24C>T (p.Ser8=)
c.27-47111C>T (n.27-47111C>T)
COSMIC
2g.31580877G>CCA346599259SRD5A2c.24C>G (p.Ser8Arg)
c.27-47111C>G (n.27-47111C>G)
2g.31580877G>TCA346599260SRD5A2c.24C>A (p.Ser8Arg)
c.27-47111C>A (n.27-47111C>A)
2g.31580878C>ACA346599261SRD5A2c.23G>T (p.Ser8Ile)
c.27-47112G>T (n.27-47112G>T)
gnomAD v4
2g.31580878C>GCA346599262SRD5A2c.23G>C (p.Ser8Thr)
c.27-47112G>C (n.27-47112G>C)
2g.31580878C>TCA346599263SRD5A2c.23G>A (p.Ser8Asn)
c.27-47112G>A (n.27-47112G>A)
gnomAD v4
2g.31580879T>ACA346599264SRD5A2c.22A>T (p.Ser8Cys)
c.27-47113A>T (n.27-47113A>T)
2g.31580879T>CCA346599266SRD5A2c.22A>G (p.Ser8Gly)
c.27-47113A>G (n.27-47113A>G)
2g.31580879T>GCA346599265SRD5A2c.22A>C (p.Ser8Arg)
c.27-47113A>C (n.27-47113A>C)
2g.31580879_31580880insTACA2586969052SRD5A2c.21_22insTA (p.Ser8Ter)
c.27-47114_27-47113insTA (n.27-47114_27-47113insTA)
2g.31580880C>ACA346599267SRD5A2c.21G>T (p.Gln7His)
c.27-47114G>T (n.27-47114G>T)
2g.31580880C>GCA346599268SRD5A2c.21G>C (p.Gln7His)
c.27-47114G>C (n.27-47114G>C)
2g.31580880C>TCA425627151SRD5A2c.21G>A (p.Gln7=)
c.27-47114G>A (n.27-47114G>A)
ClinVar dbSNP gnomAD v4
2g.31580881T>ACA346599269SRD5A2c.20A>T (p.Gln7Leu)
c.27-47115A>T (n.27-47115A>T)
2g.31580881T>CCA346599270SRD5A2c.20A>G (p.Gln7Arg)
c.27-47115A>G (n.27-47115A>G)
2g.31580881T>GCA346599271SRD5A2c.20A>C (p.Gln7Pro)
c.27-47115A>C (n.27-47115A>C)
2g.31580882G>ACA346599272SRD5A2c.19C>T (p.Gln7Ter)
c.27-47116C>T (n.27-47116C>T)
ClinVar dbSNP gnomAD v4
2g.31580882G>CCA1600042SRD5A2c.19C>G (p.Gln7Glu)
c.27-47116C>G (n.27-47116C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580882G=CA1242221181SRD5A2c.19C= (p.Gln7=)
c.27-47116C= (n.27-47116C=)
2g.31580882G>TCA346599273SRD5A2c.19C>A (p.Gln7Lys)
c.27-47116C>A (n.27-47116C>A)
gnomAD v4
2g.31580883C>ACA346599274SRD5A2c.18G>T (p.Gln6His)
c.27-47117G>T (n.27-47117G>T)
gnomAD v4
2g.31580883C>GCA346599275SRD5A2c.18G>C (p.Gln6His)
c.27-47117G>C (n.27-47117G>C)
2g.31580883C>TCA425627160SRD5A2c.18G>A (p.Gln6=)
c.27-47117G>A (n.27-47117G>A)
2g.31580884T>ACA346599278SRD5A2c.17A>T (p.Gln6Leu)
c.27-47118A>T (n.27-47118A>T)
2g.31580884T>CCA346599277SRD5A2c.17A>G (p.Gln6Arg)
c.27-47118A>G (n.27-47118A>G)
2g.31580884T>GCA346599276SRD5A2c.17A>C (p.Gln6Pro)
c.27-47118A>C (n.27-47118A>C)
2g.31580885G>ACA1600043SRD5A2c.16C>T (p.Gln6Ter)
c.27-47119C>T (n.27-47119C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580885G>CCA346599279SRD5A2c.16C>G (p.Gln6Glu)
c.27-47119C>G (n.27-47119C>G)
2g.31580885G=CA1242221182SRD5A2c.16C= (p.Gln6=)
c.27-47119C= (n.27-47119C=)
2g.31580885G>TCA346599280SRD5A2c.16C>A (p.Gln6Lys)
c.27-47119C>A (n.27-47119C>A)
2g.31580886G>ACA425627173SRD5A2c.15C>T (p.Cys5=)
c.27-47120C>T (n.27-47120C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580886G>CCA346599281SRD5A2c.15C>G (p.Cys5Trp)
c.27-47120C>G (n.27-47120C>G)
2g.31580886G=CA1242221183SRD5A2c.15C= (p.Cys5=)
c.27-47120C= (n.27-47120C=)
2g.31580886G>TCA346599282SRD5A2c.15C>A (p.Cys5Ter)
c.27-47120C>A (n.27-47120C>A)
gnomAD v4
2g.31580887C>ACA346599283SRD5A2c.14G>T (p.Cys5Phe)
c.27-47121G>T (n.27-47121G>T)
gnomAD v4
2g.31580887C>GCA346599284SRD5A2c.14G>C (p.Cys5Ser)
c.27-47121G>C (n.27-47121G>C)
2g.31580887C>TCA346599285SRD5A2c.14G>A (p.Cys5Tyr)
c.27-47121G>A (n.27-47121G>A)
gnomAD v4
2g.31580888A=CA1242221184SRD5A2c.13T= (p.Cys5=)
c.27-47122T= (n.27-47122T=)
2g.31580888A>CCA346599286SRD5A2c.13T>G (p.Cys5Gly)
c.27-47122T>G (n.27-47122T>G)
gnomAD v4
2g.31580888A>GCA224879SRD5A2c.13T>C (p.Cys5Arg)
c.27-47122T>C (n.27-47122T>C)
ClinVar dbSNP
2g.31580888A>TCA346599287SRD5A2c.13T>A (p.Cys5Ser)
c.27-47122T>A (n.27-47122T>A)
2g.31580889C>ACA346599288SRD5A2c.12G>T (p.Gln4His)
c.27-47123G>T (n.27-47123G>T)
COSMIC
2g.31580889C>GCA346599289SRD5A2c.12G>C (p.Gln4His)
c.27-47123G>C (n.27-47123G>C)
2g.31580889C>TCA425627192SRD5A2c.12G>A (p.Gln4=)
c.27-47123G>A (n.27-47123G>A)
2g.31580890T>ACA346599292SRD5A2c.11A>T (p.Gln4Leu)
c.27-47124A>T (n.27-47124A>T)
2g.31580890T>CCA346599291SRD5A2c.11A>G (p.Gln4Arg)
c.27-47124A>G (n.27-47124A>G)
gnomAD v4
2g.31580890T>GCA346599290SRD5A2c.11A>C (p.Gln4Pro)
c.27-47124A>C (n.27-47124A>C)
2g.31580891G>ACA346599293SRD5A2c.10C>T (p.Gln4Ter)
c.27-47125C>T (n.27-47125C>T)
ClinVar
2g.31580891G>CCA346599294SRD5A2c.10C>G (p.Gln4Glu)
c.27-47125C>G (n.27-47125C>G)
2g.31580891G>TCA346599295SRD5A2c.10C>A (p.Gln4Lys)
c.27-47125C>A (n.27-47125C>A)
2g.31580892A>CCA425627198SRD5A2c.9T>G (p.Val3=)
c.27-47126T>G (n.27-47126T>G)
2g.31580892A>GCA425627200SRD5A2c.9T>C (p.Val3=)
c.27-47126T>C (n.27-47126T>C)
2g.31580892A>TCA425627203SRD5A2c.9T>A (p.Val3=)
c.27-47126T>A (n.27-47126T>A)
2g.31580893A=CA1242221185SRD5A2c.8T= (p.Val3=)
c.27-47127T= (n.27-47127T=)
2g.31580893A>CCA346599296SRD5A2c.8T>G (p.Val3Gly)
c.27-47127T>G (n.27-47127T>G)
2g.31580893A>GCA1600044SRD5A2c.8T>C (p.Val3Ala)
c.27-47127T>C (n.27-47127T>C)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.31580893A>TCA346599297SRD5A2c.8T>A (p.Val3Asp)
c.27-47127T>A (n.27-47127T>A)
2g.31580894C>ACA346599298SRD5A2c.7G>T (p.Val3Phe)
c.27-47128G>T (n.27-47128G>T)
gnomAD v4
2g.31580894C=CA1242221186SRD5A2c.7G= (p.Val3=)
c.27-47128G= (n.27-47128G=)
2g.31580894C>GCA346599299SRD5A2c.7G>C (p.Val3Leu)
c.27-47128G>C (n.27-47128G>C)
dbSNP gnomAD v3 gnomAD v4
2g.31580894C>TCA1600045SRD5A2c.7G>A (p.Val3Ile)
c.27-47128G>A (n.27-47128G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580895C>ACA346599300SRD5A2c.6G>T (p.Gln2His)
c.27-47129G>T (n.27-47129G>T)
2g.31580895C>GCA346599301SRD5A2c.6G>C (p.Gln2His)
c.27-47129G>C (n.27-47129G>C)
2g.31580895C>TCA425627212SRD5A2c.6G>A (p.Gln2=)
c.27-47129G>A (n.27-47129G>A)
gnomAD v4
2g.31580896T>ACA346599302SRD5A2c.5A>T (p.Gln2Leu)
c.27-47130A>T (n.27-47130A>T)
COSMIC
2g.31580896T>CCA346599303SRD5A2c.5A>G (p.Gln2Arg)
c.27-47130A>G (n.27-47130A>G)
2g.31580896T>GCA346599304SRD5A2c.5A>C (p.Gln2Pro)
c.27-47130A>C (n.27-47130A>C)
2g.31580897G>ACA346599306SRD5A2c.4C>T (p.Gln2Ter)
c.27-47131C>T (n.27-47131C>T)
gnomAD v4
2g.31580897G>CCA45142067SRD5A2c.4C>G (p.Gln2Glu)
c.27-47131C>G (n.27-47131C>G)
dbSNP gnomAD v2 gnomAD v4
2g.31580897G=CA1242221187SRD5A2c.4C= (p.Gln2=)
c.27-47131C= (n.27-47131C=)
2g.31580897G>TCA346599305SRD5A2c.4C>A (p.Gln2Lys)
c.27-47131C>A (n.27-47131C>A)
gnomAD v4
2g.31580898C>ACA346599307SRD5A2c.3G>T (p.Met1Ile)
c.27-47132G>T (n.27-47132G>T)
2g.31580898C>GCA346599308SRD5A2c.3G>C (p.Met1Ile)
c.27-47132G>C (n.27-47132G>C)
2g.31580898C>TCA346599309SRD5A2c.3G>A (p.Met1Ile)
c.27-47132G>A (n.27-47132G>A)
gnomAD v4
2g.31580898_31580899insTCA2586969053SRD5A2c.2_3insA (p.Met1IlefsTer?)
c.27-47133_27-47132insA (n.27-47133_27-47132insA)
2g.31580899A=CA1242221188SRD5A2c.2T= (p.Met1=)
c.27-47133T= (n.27-47133T=)
2g.31580899A>CCA346599310SRD5A2c.2T>G (p.Met1Arg)
c.27-47133T>G (n.27-47133T>G)
2g.31580899A>GCA10588340SRD5A2c.2T>C (p.Met1Thr)
c.27-47133T>C (n.27-47133T>C)
ClinVar dbSNP
2g.31580899A>TCA346599311SRD5A2c.2T>A (p.Met1Lys)
c.27-47133T>A (n.27-47133T>A)
2g.31580900T>ACA346599312SRD5A2c.1A>T (p.Met1Leu)
c.27-47134A>T (n.27-47134A>T)
2g.31580900T>CCA346599313SRD5A2c.1A>G (p.Met1Val)
c.27-47134A>G (n.27-47134A>G)
2g.31580900T>GCA346599314SRD5A2c.1A>C (p.Met1Leu)
c.27-47134A>C (n.27-47134A>C)
2g.31580904_31580917delCA2658512718SRD5A2c.-13_1del (n.-13_1del)
c.27-47147_27-47134del (n.27-47147_27-47134del)
gnomAD v4
2g.31580901C>ACA425627243SRD5A2c.-1G>T (n.-1G>T)
c.27-47135G>T (n.27-47135G>T)
gnomAD v4
2g.31580901C=CA1242221189SRD5A2c.-1G= (n.-1G=)
c.27-47135G= (n.27-47135G=)
2g.31580901C>GCA425627244SRD5A2c.-1G>C (n.-1G>C)
c.27-47135G>C (n.27-47135G>C)
2g.31580901C>TCA425627245SRD5A2c.-1G>A (n.-1G>A)
c.27-47135G>A (n.27-47135G>A)
dbSNP gnomAD v2 gnomAD v4
2g.31580902G>ACA425627249SRD5A2c.-2C>T (n.-2C>T)
c.27-47136C>T (n.27-47136C>T)
dbSNP gnomAD v4 COSMIC
2g.31580902G>CCA425627252SRD5A2c.-2C>G (n.-2C>G)
c.27-47136C>G (n.27-47136C>G)
2g.31580902G=CA1242221190SRD5A2c.-2C= (n.-2C=)
c.27-47136C= (n.27-47136C=)
2g.31580902G>TCA224878SRD5A2c.-2C>A (n.-2C>A)
c.27-47136C>A (n.27-47136C>A)
ClinVar dbSNP gnomAD v4
2g.31580902_31580914delinsGCGCCGTGTTCCTCA1242221191SRD5A2c.-14_-2delinsAGGAACACGGCGC (n.-14_-2delinsAGGAACACGGCGC)
c.27-47148_27-47136delinsAGGAACACGGCGC (n.27-47148_27-47136delinsAGGAACACGGCGC)
2g.31580903C>ACA45142068SRD5A2c.-3G>T (n.-3G>T)
c.27-47137G>T (n.27-47137G>T)
dbSNP
2g.31580903C=CA1242221192SRD5A2c.-3G= (n.-3G=)
c.27-47137G= (n.27-47137G=)
2g.31580903C>GCA425627256SRD5A2c.-3G>C (n.-3G>C)
c.27-47137G>C (n.27-47137G>C)
2g.31580903C>TCA425627255SRD5A2c.-3G>A (n.-3G>A)
c.27-47137G>A (n.27-47137G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31580908_31580919delCA1600046SRD5A2c.-14_-3del (n.-14_-3del)
c.27-47148_27-47137del (n.27-47148_27-47137del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31580904G>ACA425627260SRD5A2c.-4C>T (n.-4C>T)
c.27-47138C>T (n.27-47138C>T)
gnomAD v4
2g.31580904G>CCA425627264SRD5A2c.-4C>G (n.-4C>G)
c.27-47138C>G (n.27-47138C>G)
2g.31580904G=CA1242221193SRD5A2c.-4C= (n.-4C=)
c.27-47138C= (n.27-47138C=)
2g.31580904G>TCA1600047SRD5A2c.-4C>A (n.-4C>A)
c.27-47138C>A (n.27-47138C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31580905C>ACA425627269SRD5A2c.-5G>T (n.-5G>T)
c.27-47139G>T (n.27-47139G>T)
2g.31580905C>GCA425627272SRD5A2c.-5G>C (n.-5G>C)
c.27-47139G>C (n.27-47139G>C)
2g.31580905C>TCA425627275SRD5A2c.-5G>A (n.-5G>A)
c.27-47139G>A (n.27-47139G>A)
gnomAD v4
2g.31580906C>ACA425627279SRD5A2c.-6G>T (n.-6G>T)
c.27-47140G>T (n.27-47140G>T)
dbSNP gnomAD v3 gnomAD v4
2g.31580906C=CA1242221194SRD5A2c.-6G= (n.-6G=)
c.27-47140G= (n.27-47140G=)
2g.31580906C>GCA425627283SRD5A2c.-6G>C (n.-6G>C)
c.27-47140G>C (n.27-47140G>C)
2g.31580906C>TCA425627286SRD5A2c.-6G>A (n.-6G>A)
c.27-47140G>A (n.27-47140G>A)
gnomAD v4

Number of alleles fetched