Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31580806C>A | CA346599117 | SRD5A2 | c.95G>T (p.Gly32Val) c.27-47040G>T (n.27-47040G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580806C= | CA1242221137 | SRD5A2 | c.95G= (p.Gly32=) c.27-47040G= (n.27-47040G=) | |
2 | g.31580806C>G | CA346599118 | SRD5A2 | c.95G>C (p.Gly32Ala) c.27-47040G>C (n.27-47040G>C) | gnomAD v4 |
2 | g.31580806C>T | CA346599119 | SRD5A2 | c.95G>A (p.Gly32Asp) c.27-47040G>A (n.27-47040G>A) | gnomAD v4 |
2 | g.31580806_31580820delinsCCGGAGGGCTTCGCG | CA1242221138 | SRD5A2 | c.81_95delinsCGCGAAGCCCTCCGG (p.Val27=) c.27-47054_27-47040delinsCGCGAAGCCCTCCGG (n.27-47054_27-47040delinsCGCGAAGCCCTCCGG) | |
2 | g.31580807C>A | CA346599120 | SRD5A2 | c.94G>T (p.Gly32Cys) c.27-47041G>T (n.27-47041G>T) | gnomAD v4 |
2 | g.31580807C= | CA1242221139 | SRD5A2 | c.94G= (p.Gly32=) c.27-47041G= (n.27-47041G=) | |
2 | g.31580807C>G | CA346599121 | SRD5A2 | c.94G>C (p.Gly32Arg) c.27-47041G>C (n.27-47041G>C) | |
2 | g.31580807C>T | CA346599122 | SRD5A2 | c.94G>A (p.Gly32Ser) c.27-47041G>A (n.27-47041G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580807_31580820del | CA1139656817 | SRD5A2 | c.81_94del (p.Ala28LeufsTer?) c.27-47054_27-47041del (n.27-47054_27-47041del) | ClinVar dbSNP gnomAD v4 |
2 | g.31580808G>A | CA45142059 | SRD5A2 | c.93C>T (p.Ser31=) c.27-47042C>T (n.27-47042C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.31580808G= | CA1242221140 | SRD5A2 | c.93C= (p.Ser31=) c.27-47042C= (n.27-47042C=) | |
2 | g.31580808G>T | CA767788289 | SRD5A2 | c.93C>A (p.Ser31=) c.27-47042C>A (n.27-47042C>A) | dbSNP gnomAD v4 |
2 | g.31580809dup | CA646614967 | SRD5A2 | c.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 |
2 | g.31580809G>A | CA346599123 | SRD5A2 | c.92C>T (p.Ser31Phe) c.27-47043C>T (n.27-47043C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580809G>C | CA45142060 | SRD5A2 | c.92C>G (p.Ser31Cys) c.27-47043C>G (n.27-47043C>G) | dbSNP gnomAD v4 |
2 | g.31580809G= | CA1242221141 | SRD5A2 | c.92C= (p.Ser31=) c.27-47043C= (n.27-47043C=) | |
2 | g.31580809G>T | CA346599124 | SRD5A2 | c.92C>A (p.Ser31Tyr) c.27-47043C>A (n.27-47043C>A) | |
2 | g.31580810A= | CA1242221142 | SRD5A2 | c.91T= (p.Ser31=) c.27-47044T= (n.27-47044T=) | |
2 | g.31580810A>C | CA346599125 | SRD5A2 | c.91T>G (p.Ser31Ala) c.27-47044T>G (n.27-47044T>G) | |
2 | g.31580810A>G | CA346599126 | SRD5A2 | c.91T>C (p.Ser31Pro) c.27-47044T>C (n.27-47044T>C) | dbSNP COSMIC |
2 | g.31580810A>T | CA346599127 | SRD5A2 | c.91T>A (p.Ser31Thr) c.27-47044T>A (n.27-47044T>A) | |
2 | g.31580811G>A | CA1242221144 | SRD5A2 | c.90C>T (p.Pro30=) c.27-47045C>T (n.27-47045C>T) | dbSNP |
2 | g.31580811G= | CA1242221143 | SRD5A2 | c.90C= (p.Pro30=) c.27-47045C= (n.27-47045C=) | |
2 | g.31580813dup | CA45142061 | SRD5A2 | c.90dup (p.Ser31LeufsTer?) c.27-47045dup (n.27-47045dup) | ClinVar dbSNP COSMIC COSMIC COSMIC |
2 | g.31580813del | CA2658512715 | SRD5A2 | c.90del (p.Ser31ProfsTer10) c.27-47045del (n.27-47045del) | gnomAD v4 |
2 | g.31580811_31580812insA | CA45142063 | SRD5A2 | c.89_90insT (p.Ser31LeufsTer?) c.27-47046_27-47045insT (n.27-47046_27-47045insT) | ClinVar dbSNP |
2 | g.31580811_31580812insT | CA45142062 | SRD5A2 | c.89_90insA (p.Ser31LeufsTer?) c.27-47046_27-47045insA (n.27-47046_27-47045insA) | |
2 | g.31580812G>A | CA346599128 | SRD5A2 | c.89C>T (p.Pro30Leu) c.27-47046C>T (n.27-47046C>T) | gnomAD v4 |
2 | g.31580812G>C | CA346599129 | SRD5A2 | c.89C>G (p.Pro30Arg) c.27-47046C>G (n.27-47046C>G) | |
2 | g.31580812G= | CA1242221145 | SRD5A2 | c.89C= (p.Pro30=) c.27-47046C= (n.27-47046C=) | |
2 | g.31580812G>T | CA346599130 | SRD5A2 | c.89C>A (p.Pro30His) c.27-47046C>A (n.27-47046C>A) | |
2 | g.31580812_31580813insA | CA767788318 | SRD5A2 | c.88_89insT (p.Pro30LeufsTer?) c.27-47047_27-47046insT (n.27-47047_27-47046insT) | dbSNP |
2 | g.31580813G>A | CA346599132 | SRD5A2 | c.88C>T (p.Pro30Ser) c.27-47047C>T (n.27-47047C>T) | |
2 | g.31580813G>C | CA346599133 | SRD5A2 | c.88C>G (p.Pro30Ala) c.27-47047C>G (n.27-47047C>G) | |
2 | g.31580813G>T | CA346599131 | SRD5A2 | c.88C>A (p.Pro30Thr) c.27-47047C>A (n.27-47047C>A) | gnomAD v4 |
2 | g.31580813_31580817delinsGCTTC | CA1242221146 | SRD5A2 | c.84_88delinsGAAGC (p.Ala28=) c.27-47051_27-47047delinsGAAGC (n.27-47051_27-47047delinsGAAGC) | |
2 | g.31580814_31580820del | CA2697547977 | SRD5A2 | c.82_88del (p.Ala28ProfsTer11) c.27-47053_27-47047del (n.27-47053_27-47047del) | ClinVar |
2 | g.31580814C>A | CA346599134 | SRD5A2 | c.87G>T (p.Lys29Asn) c.27-47048G>T (n.27-47048G>T) | gnomAD v4 |
2 | g.31580814C>G | CA346599135 | SRD5A2 | c.87G>C (p.Lys29Asn) c.27-47048G>C (n.27-47048G>C) | |
2 | g.31580814_31580817del | CA767788321 | SRD5A2 | c.84_87del (p.Lys29ProfsTer11) c.27-47051_27-47048del (n.27-47051_27-47048del) | dbSNP |
2 | g.31580815_31580822del | CA2586969050 | SRD5A2 | c.80_87del (p.Val27AlafsTer?) c.27-47055_27-47048del (n.27-47055_27-47048del) | ClinVar gnomAD v4 |
2 | g.31580815T>A | CA346599136 | SRD5A2 | c.86A>T (p.Lys29Met) c.27-47049A>T (n.27-47049A>T) | |
2 | g.31580815T>C | CA346599137 | SRD5A2 | c.86A>G (p.Lys29Arg) c.27-47049A>G (n.27-47049A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580815T>G | CA346599138 | SRD5A2 | c.86A>C (p.Lys29Thr) c.27-47049A>C (n.27-47049A>C) | |
2 | g.31580815T= | CA1242221147 | SRD5A2 | c.86A= (p.Lys29=) c.27-47049A= (n.27-47049A=) | |
2 | g.31580816T>A | CA346599139 | SRD5A2 | c.85A>T (p.Lys29Ter) c.27-47050A>T (n.27-47050A>T) | |
2 | g.31580816T>C | CA346599140 | SRD5A2 | c.85A>G (p.Lys29Glu) c.27-47050A>G (n.27-47050A>G) | |
2 | g.31580816T>G | CA346599141 | SRD5A2 | c.85A>C (p.Lys29Gln) c.27-47050A>C (n.27-47050A>C) | |
2 | g.31580817C= | CA1242221148 | SRD5A2 | c.84G= (p.Ala28=) c.27-47051G= (n.27-47051G=) | |
2 | g.31580817C>T | CA767788331 | SRD5A2 | c.84G>A (p.Ala28=) c.27-47051G>A (n.27-47051G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.31580818G>A | CA346599142 | SRD5A2 | c.83C>T (p.Ala28Val) c.27-47052C>T (n.27-47052C>T) | gnomAD v4 |
2 | g.31580818G>C | CA346599143 | SRD5A2 | c.83C>G (p.Ala28Gly) c.27-47052C>G (n.27-47052C>G) | |
2 | g.31580818G= | CA1242221149 | SRD5A2 | c.83C= (p.Ala28=) c.27-47052C= (n.27-47052C=) | |
2 | g.31580818G>T | CA346599144 | SRD5A2 | c.83C>A (p.Ala28Glu) c.27-47052C>A (n.27-47052C>A) | dbSNP gnomAD v4 |
2 | g.31580818_31580821delinsGCGA | CA1242221150 | SRD5A2 | c.80_83delinsTCGC (p.Val27=) c.27-47055_27-47052delinsTCGC (n.27-47055_27-47052delinsTCGC) | |
2 | g.31580819C>A | CA346599146 | SRD5A2 | c.82G>T (p.Ala28Ser) c.27-47053G>T (n.27-47053G>T) | |
2 | g.31580819C= | CA1242221151 | SRD5A2 | c.82G= (p.Ala28=) c.27-47053G= (n.27-47053G=) | |
2 | g.31580819C>G | CA346599147 | SRD5A2 | c.82G>C (p.Ala28Pro) c.27-47053G>C (n.27-47053G>C) | |
2 | g.31580819C>T | CA346599145 | SRD5A2 | c.82G>A (p.Ala28Thr) c.27-47053G>A (n.27-47053G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580821_31580823del | CA767788334 | SRD5A2 | c.80_82del (p.Val27del) c.27-47055_27-47053del (n.27-47055_27-47053del) | dbSNP |
2 | g.31580820G>A | CA2697547978 | SRD5A2 | c.81C>T (p.Val27=) c.27-47054C>T (n.27-47054C>T) | ClinVar |
2 | g.31580820G>C | CA2697547979 | SRD5A2 | c.81C>G (p.Val27=) c.27-47054C>G (n.27-47054C>G) | ClinVar |
2 | g.31580820G>T | CA2658512716 | SRD5A2 | c.81C>A (p.Val27=) c.27-47054C>A (n.27-47054C>A) | gnomAD v4 |
2 | g.31580821A>C | CA346599148 | SRD5A2 | c.80T>G (p.Val27Gly) c.27-47055T>G (n.27-47055T>G) | |
2 | g.31580821A>G | CA346599149 | SRD5A2 | c.80T>C (p.Val27Ala) c.27-47055T>C (n.27-47055T>C) | |
2 | g.31580821A>T | CA346599150 | SRD5A2 | c.80T>A (p.Val27Asp) c.27-47055T>A (n.27-47055T>A) | |
2 | g.31580822C>A | CA346599151 | SRD5A2 | c.79G>T (p.Val27Phe) c.27-47056G>T (n.27-47056G>T) | |
2 | g.31580822C>G | CA346599152 | SRD5A2 | c.79G>C (p.Val27Leu) c.27-47056G>C (n.27-47056G>C) | |
2 | g.31580822C>T | CA346599153 | SRD5A2 | c.79G>A (p.Val27Ile) c.27-47056G>A (n.27-47056G>A) | gnomAD v4 COSMIC |
2 | g.31580823G>A | CA767788344 | SRD5A2 | c.78C>T (p.Tyr26=) c.27-47057C>T (n.27-47057C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.31580823G>C | CA346599154 | SRD5A2 | c.78C>G (p.Tyr26Ter) c.27-47057C>G (n.27-47057C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.31580823G= | CA1242221152 | SRD5A2 | c.78C= (p.Tyr26=) c.27-47057C= (n.27-47057C=) | |
2 | g.31580823G>T | CA346599155 | SRD5A2 | c.78C>A (p.Tyr26Ter) c.27-47057C>A (n.27-47057C>A) | |
2 | g.31580824T>A | CA346599156 | SRD5A2 | c.77A>T (p.Tyr26Phe) c.27-47058A>T (n.27-47058A>T) | |
2 | g.31580824T>C | CA346599157 | SRD5A2 | c.77A>G (p.Tyr26Cys) c.27-47058A>G (n.27-47058A>G) | |
2 | g.31580824T>G | CA346599158 | SRD5A2 | c.77A>C (p.Tyr26Ser) c.27-47058A>C (n.27-47058A>C) | |
2 | g.31580825A= | CA1242221153 | SRD5A2 | c.76T= (p.Tyr26=) c.27-47059T= (n.27-47059T=) | |
2 | g.31580825A>C | CA346599159 | SRD5A2 | c.76T>G (p.Tyr26Asp) c.27-47059T>G (n.27-47059T>G) | |
2 | g.31580825A>G | CA346599160 | SRD5A2 | c.76T>C (p.Tyr26His) c.27-47059T>C (n.27-47059T>C) | dbSNP gnomAD v4 |
2 | g.31580825A>T | CA346599161 | SRD5A2 | c.76T>A (p.Tyr26Asn) c.27-47059T>A (n.27-47059T>A) | gnomAD v4 |
2 | g.31580826C>A | CA346599162 | SRD5A2 | c.75G>T (p.Leu25Phe) c.27-47060G>T (n.27-47060G>T) | |
2 | g.31580826C= | CA1242221154 | SRD5A2 | c.75G= (p.Leu25=) c.27-47060G= (n.27-47060G=) | |
2 | g.31580826C>G | CA346599163 | SRD5A2 | c.75G>C (p.Leu25Phe) c.27-47060G>C (n.27-47060G>C) | |
2 | g.31580826C>T | CA45142064 | SRD5A2 | c.75G>A (p.Leu25=) c.27-47060G>A (n.27-47060G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580827A= | CA1242221155 | SRD5A2 | c.74T= (p.Leu25=) c.27-47061T= (n.27-47061T=) | |
2 | g.31580827A>C | CA346599164 | SRD5A2 | c.74T>G (p.Leu25Trp) c.27-47061T>G (n.27-47061T>G) | |
2 | g.31580827A>G | CA346599165 | SRD5A2 | c.74T>C (p.Leu25Ser) c.27-47061T>C (n.27-47061T>C) | dbSNP |
2 | g.31580827A>T | CA346599166 | SRD5A2 | c.74T>A (p.Leu25Ter) c.27-47061T>A (n.27-47061T>A) | |
2 | g.31580828A>C | CA346599167 | SRD5A2 | c.73T>G (p.Leu25Val) c.27-47062T>G (n.27-47062T>G) | |
2 | g.31580828A>T | CA346599168 | SRD5A2 | c.73T>A (p.Leu25Met) c.27-47062T>A (n.27-47062T>A) | |
2 | g.31580829G>C | CA2658512717 | SRD5A2 | c.72C>G (p.Ala24=) c.27-47063C>G (n.27-47063C>G) | ClinVar gnomAD v4 |
2 | g.31580830G>A | CA346599169 | SRD5A2 | c.71C>T (p.Ala24Val) c.27-47064C>T (n.27-47064C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580830G>C | CA346599170 | SRD5A2 | c.71C>G (p.Ala24Gly) c.27-47064C>G (n.27-47064C>G) | |
2 | g.31580830G= | CA1242221156 | SRD5A2 | c.71C= (p.Ala24=) c.27-47064C= (n.27-47064C=) | |
2 | g.31580830G>T | CA346599171 | SRD5A2 | c.71C>A (p.Ala24Asp) c.27-47064C>A (n.27-47064C>A) | |
2 | g.31580831C>A | CA346599172 | SRD5A2 | c.70G>T (p.Ala24Ser) c.27-47065G>T (n.27-47065G>T) | |
2 | g.31580831C>G | CA346599173 | SRD5A2 | c.70G>C (p.Ala24Pro) c.27-47065G>C (n.27-47065G>C) | |
2 | g.31580831C>T | CA346599174 | SRD5A2 | c.70G>A (p.Ala24Thr) c.27-47065G>A (n.27-47065G>A) | |
2 | g.31580832C= | CA1242221157 | SRD5A2 | c.69G= (p.Leu23=) c.27-47066G= (n.27-47066G=) | |
2 | g.31580832C>T | CA767788363 | SRD5A2 | c.69G>A (p.Leu23=) c.27-47066G>A (n.27-47066G>A) | dbSNP gnomAD v4 |
2 | g.31580833A>C | CA346599175 | SRD5A2 | c.68T>G (p.Leu23Arg) c.27-47067T>G (n.27-47067T>G) | |
2 | g.31580833A>G | CA346599176 | SRD5A2 | c.68T>C (p.Leu23Pro) c.27-47067T>C (n.27-47067T>C) | |
2 | g.31580833A>T | CA346599177 | SRD5A2 | c.68T>A (p.Leu23Gln) c.27-47067T>A (n.27-47067T>A) | |
2 | g.31580834G>A | CA425626857 | SRD5A2 | c.67C>T (p.Leu23=) c.27-47068C>T (n.27-47068C>T) | gnomAD v4 |
2 | g.31580834G>C | CA346599179 | SRD5A2 | c.67C>G (p.Leu23Val) c.27-47068C>G (n.27-47068C>G) | |
2 | g.31580834G>T | CA346599178 | SRD5A2 | c.67C>A (p.Leu23Met) c.27-47068C>A (n.27-47068C>A) | |
2 | g.31580835T>A | CA425626862 | SRD5A2 | c.66A>T (p.Ala22=) c.27-47069A>T (n.27-47069A>T) | |
2 | g.31580835T>C | CA425626866 | SRD5A2 | c.66A>G (p.Ala22=) c.27-47069A>G (n.27-47069A>G) | |
2 | g.31580835T>G | CA425626869 | SRD5A2 | c.66A>C (p.Ala22=) c.27-47069A>C (n.27-47069A>C) | |
2 | g.31580836G>A | CA346599180 | SRD5A2 | c.65C>T (p.Ala22Val) c.27-47070C>T (n.27-47070C>T) | gnomAD v4 |
2 | g.31580836G>C | CA346599181 | SRD5A2 | c.65C>G (p.Ala22Gly) c.27-47070C>G (n.27-47070C>G) | |
2 | g.31580836G= | CA1242221158 | SRD5A2 | c.65C= (p.Ala22=) c.27-47070C= (n.27-47070C=) | |
2 | g.31580836G>T | CA346599182 | SRD5A2 | c.65C>A (p.Ala22Glu) c.27-47070C>A (n.27-47070C>A) | |
2 | g.31580837C>A | CA346599183 | SRD5A2 | c.64G>T (p.Ala22Ser) c.27-47071G>T (n.27-47071G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580837C= | CA1242221159 | SRD5A2 | c.64G= (p.Ala22=) c.27-47071G= (n.27-47071G=) | |
2 | g.31580837C>G | CA346599184 | SRD5A2 | c.64G>C (p.Ala22Pro) c.27-47071G>C (n.27-47071G>C) | |
2 | g.31580837C>T | CA346599185 | SRD5A2 | c.64G>A (p.Ala22Thr) c.27-47071G>A (n.27-47071G>A) | |
2 | g.31580840dup | CA1600034 | SRD5A2 | c.64dup (p.Ala22GlyfsTer?) c.27-47071dup (n.27-47071dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580838C>A | CA425626876 | SRD5A2 | c.63G>T (p.Gly21=) c.27-47072G>T (n.27-47072G>T) | |
2 | g.31580838C>G | CA425626878 | SRD5A2 | c.63G>C (p.Gly21=) c.27-47072G>C (n.27-47072G>C) | |
2 | g.31580838C>T | CA425626881 | SRD5A2 | c.63G>A (p.Gly21=) c.27-47072G>A (n.27-47072G>A) | |
2 | g.31580839C>A | CA346599186 | SRD5A2 | c.62G>T (p.Gly21Val) c.27-47073G>T (n.27-47073G>T) | |
2 | g.31580839C>G | CA346599187 | SRD5A2 | c.62G>C (p.Gly21Ala) c.27-47073G>C (n.27-47073G>C) | |
2 | g.31580839C>T | CA346599188 | SRD5A2 | c.62G>A (p.Gly21Glu) c.27-47073G>A (n.27-47073G>A) | |
2 | g.31580840C>A | CA346599189 | SRD5A2 | c.61G>T (p.Gly21Trp) c.27-47074G>T (n.27-47074G>T) | |
2 | g.31580840C= | CA1242221160 | SRD5A2 | c.61G= (p.Gly21=) c.27-47074G= (n.27-47074G=) | |
2 | g.31580840C>G | CA346599190 | SRD5A2 | c.61G>C (p.Gly21Arg) c.27-47074G>C (n.27-47074G>C) | ClinVar dbSNP |
2 | g.31580840C>T | CA346599191 | SRD5A2 | c.61G>A (p.Gly21Arg) c.27-47074G>A (n.27-47074G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580841A>C | CA425626898 | SRD5A2 | c.60T>G (p.Leu20=) c.27-47075T>G (n.27-47075T>G) | |
2 | g.31580841A>G | CA425626896 | SRD5A2 | c.60T>C (p.Leu20=) c.27-47075T>C (n.27-47075T>C) | |
2 | g.31580841A>T | CA425626897 | SRD5A2 | c.60T>A (p.Leu20=) c.27-47075T>A (n.27-47075T>A) | |
2 | g.31580842A= | CA1242221161 | SRD5A2 | c.59T= (p.Leu20=) c.27-47076T= (n.27-47076T=) | |
2 | g.31580842A>C | CA346599192 | SRD5A2 | c.59T>G (p.Leu20Arg) c.27-47076T>G (n.27-47076T>G) | gnomAD v4 |
2 | g.31580842A>G | CA1600035 | SRD5A2 | c.59T>C (p.Leu20Pro) c.27-47076T>C (n.27-47076T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580842A>T | CA346599193 | SRD5A2 | c.59T>A (p.Leu20His) c.27-47076T>A (n.27-47076T>A) | |
2 | g.31580843G>A | CA346599194 | SRD5A2 | c.58C>T (p.Leu20Phe) c.27-47077C>T (n.27-47077C>T) | |
2 | g.31580843G>C | CA346599195 | SRD5A2 | c.58C>G (p.Leu20Val) c.27-47077C>G (n.27-47077C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580843G= | CA1242221162 | SRD5A2 | c.58C= (p.Leu20=) c.27-47077C= (n.27-47077C=) | |
2 | g.31580843G>T | CA346599196 | SRD5A2 | c.58C>A (p.Leu20Ile) c.27-47077C>A (n.27-47077C>A) | |
2 | g.31580844G>A | CA425626912 | SRD5A2 | c.57C>T (p.Ala19=) c.27-47078C>T (n.27-47078C>T) | gnomAD v4 COSMIC |
2 | g.31580844G>C | CA425626918 | SRD5A2 | c.57C>G (p.Ala19=) c.27-47078C>G (n.27-47078C>G) | gnomAD v4 |
2 | g.31580844G>T | CA425626919 | SRD5A2 | c.57C>A (p.Ala19=) c.27-47078C>A (n.27-47078C>A) | |
2 | g.31580845G>A | CA346599197 | SRD5A2 | c.56C>T (p.Ala19Val) c.27-47079C>T (n.27-47079C>T) | |
2 | g.31580845G>C | CA346599198 | SRD5A2 | c.56C>G (p.Ala19Gly) c.27-47079C>G (n.27-47079C>G) | |
2 | g.31580845G>T | CA346599199 | SRD5A2 | c.56C>A (p.Ala19Asp) c.27-47079C>A (n.27-47079C>A) | |
2 | g.31580846C>A | CA346599200 | SRD5A2 | c.55G>T (p.Ala19Ser) c.27-47080G>T (n.27-47080G>T) | |
2 | g.31580846C>G | CA346599201 | SRD5A2 | c.55G>C (p.Ala19Pro) c.27-47080G>C (n.27-47080G>C) | |
2 | g.31580846C>T | CA346599202 | SRD5A2 | c.55G>A (p.Ala19Thr) c.27-47080G>A (n.27-47080G>A) | gnomAD v4 COSMIC |
2 | g.31580847G>A | CA1600036 | SRD5A2 | c.54C>T (p.Val18=) c.27-47081C>T (n.27-47081C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580847G>C | CA425626934 | SRD5A2 | c.54C>G (p.Val18=) c.27-47081C>G (n.27-47081C>G) | |
2 | g.31580847G= | CA1242221163 | SRD5A2 | c.54C= (p.Val18=) c.27-47081C= (n.27-47081C=) | |
2 | g.31580847G>T | CA425626932 | SRD5A2 | c.54C>A (p.Val18=) c.27-47081C>A (n.27-47081C>A) | gnomAD v4 |
2 | g.31580848A>C | CA346599203 | SRD5A2 | c.53T>G (p.Val18Gly) c.27-47082T>G (n.27-47082T>G) | |
2 | g.31580848A>G | CA346599204 | SRD5A2 | c.53T>C (p.Val18Ala) c.27-47082T>C (n.27-47082T>C) | gnomAD v4 |
2 | g.31580848A>T | CA346599205 | SRD5A2 | c.53T>A (p.Val18Asp) c.27-47082T>A (n.27-47082T>A) | |
2 | g.31580849C>A | CA346599206 | SRD5A2 | c.52G>T (p.Val18Phe) c.27-47083G>T (n.27-47083G>T) | |
2 | g.31580849C= | CA1242221164 | SRD5A2 | c.52G= (p.Val18=) c.27-47083G= (n.27-47083G=) | |
2 | g.31580849C>G | CA346599208 | SRD5A2 | c.52G>C (p.Val18Leu) c.27-47083G>C (n.27-47083G>C) | |
2 | g.31580849C>T | CA346599207 | SRD5A2 | c.52G>A (p.Val18Ile) c.27-47083G>A (n.27-47083G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580850C>A | CA346599209 | SRD5A2 | c.51G>T (p.Leu17Phe) c.27-47084G>T (n.27-47084G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580850C= | CA1242221165 | SRD5A2 | c.51G= (p.Leu17=) c.27-47084G= (n.27-47084G=) | |
2 | g.31580850C>G | CA346599210 | SRD5A2 | c.51G>C (p.Leu17Phe) c.27-47084G>C (n.27-47084G>C) | gnomAD v4 |
2 | g.31580850C>T | CA425626956 | SRD5A2 | c.51G>A (p.Leu17=) c.27-47084G>A (n.27-47084G>A) | |
2 | g.31580851A= | CA1242221166 | SRD5A2 | c.50T= (p.Leu17=) c.27-47085T= (n.27-47085T=) | |
2 | g.31580851A>C | CA346599211 | SRD5A2 | c.50T>G (p.Leu17Trp) c.27-47085T>G (n.27-47085T>G) | |
2 | g.31580851A>G | CA346599212 | SRD5A2 | c.50T>C (p.Leu17Ser) c.27-47085T>C (n.27-47085T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580851A>T | CA346599213 | SRD5A2 | c.50T>A (p.Leu17Ter) c.27-47085T>A (n.27-47085T>A) | |
2 | g.31580852A= | CA1242221167 | SRD5A2 | c.49T= (p.Leu17=) c.27-47086T= (n.27-47086T=) | |
2 | g.31580852A>C | CA346599214 | SRD5A2 | c.49T>G (p.Leu17Val) c.27-47086T>G (n.27-47086T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580852A>G | CA425626970 | SRD5A2 | c.49T>C (p.Leu17=) c.27-47086T>C (n.27-47086T>C) | |
2 | g.31580852A>T | CA346599215 | SRD5A2 | c.49T>A (p.Leu17Met) c.27-47086T>A (n.27-47086T>A) | |
2 | g.31580853A>C | CA425626973 | SRD5A2 | c.48T>G (p.Thr16=) c.27-47087T>G (n.27-47087T>G) | |
2 | g.31580853A>G | CA425626979 | SRD5A2 | c.48T>C (p.Thr16=) c.27-47087T>C (n.27-47087T>C) | |
2 | g.31580853A>T | CA425626981 | SRD5A2 | c.48T>A (p.Thr16=) c.27-47087T>A (n.27-47087T>A) | |
2 | g.31580854G>A | CA346599216 | SRD5A2 | c.47C>T (p.Thr16Ile) c.27-47088C>T (n.27-47088C>T) | |
2 | g.31580854G>C | CA1600037 | SRD5A2 | c.47C>G (p.Thr16Ser) c.27-47088C>G (n.27-47088C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580854G= | CA1242221168 | SRD5A2 | c.47C= (p.Thr16=) c.27-47088C= (n.27-47088C=) | |
2 | g.31580854G>T | CA346599217 | SRD5A2 | c.47C>A (p.Thr16Asn) c.27-47088C>A (n.27-47088C>A) | |
2 | g.31580855T>A | CA1600038 | SRD5A2 | c.46A>T (p.Thr16Ser) c.27-47089A>T (n.27-47089A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580855T>C | CA346599219 | SRD5A2 | c.46A>G (p.Thr16Ala) c.27-47089A>G (n.27-47089A>G) | |
2 | g.31580855T>G | CA346599218 | SRD5A2 | c.46A>C (p.Thr16Pro) c.27-47089A>C (n.27-47089A>C) | |
2 | g.31580855T= | CA1242221169 | SRD5A2 | c.46A= (p.Thr16=) c.27-47089A= (n.27-47089A=) | |
2 | g.31580856G>A | CA425626997 | SRD5A2 | c.45C>T (p.Ala15=) c.27-47090C>T (n.27-47090C>T) | gnomAD v4 |
2 | g.31580856G>C | CA425626996 | SRD5A2 | c.45C>G (p.Ala15=) c.27-47090C>G (n.27-47090C>G) | |
2 | g.31580856G>T | CA425626994 | SRD5A2 | c.45C>A (p.Ala15=) c.27-47090C>A (n.27-47090C>A) | |
2 | g.31580857G>A | CA346599220 | SRD5A2 | c.44C>T (p.Ala15Val) c.27-47091C>T (n.27-47091C>T) | gnomAD v4 |
2 | g.31580857G>C | CA346599222 | SRD5A2 | c.44C>G (p.Ala15Gly) c.27-47091C>G (n.27-47091C>G) | |
2 | g.31580857G= | CA1242221170 | SRD5A2 | c.44C= (p.Ala15=) c.27-47091C= (n.27-47091C=) | |
2 | g.31580857G>T | CA346599221 | SRD5A2 | c.44C>A (p.Ala15Asp) c.27-47091C>A (n.27-47091C>A) | dbSNP |
2 | g.31580858C>A | CA346599223 | SRD5A2 | c.43G>T (p.Ala15Ser) c.27-47092G>T (n.27-47092G>T) | gnomAD v4 |
2 | g.31580858C>G | CA346599225 | SRD5A2 | c.43G>C (p.Ala15Pro) c.27-47092G>C (n.27-47092G>C) | |
2 | g.31580858C>T | CA346599224 | SRD5A2 | c.43G>A (p.Ala15Thr) c.27-47092G>A (n.27-47092G>A) | gnomAD v4 COSMIC |
2 | g.31580859G>A | CA425627032 | SRD5A2 | c.42C>T (p.Ser14=) c.27-47093C>T (n.27-47093C>T) | gnomAD v4 |
2 | g.31580859G>C | CA346599226 | SRD5A2 | c.42C>G (p.Ser14Arg) c.27-47093C>G (n.27-47093C>G) | |
2 | g.31580859G= | CA1242221171 | SRD5A2 | c.42C= (p.Ser14=) c.27-47093C= (n.27-47093C=) | |
2 | g.31580859G>T | CA1600039 | SRD5A2 | c.42C>A (p.Ser14Arg) c.27-47093C>A (n.27-47093C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580860C>A | CA346599227 | SRD5A2 | c.41G>T (p.Ser14Ile) c.27-47094G>T (n.27-47094G>T) | |
2 | g.31580860C>G | CA346599228 | SRD5A2 | c.41G>C (p.Ser14Thr) c.27-47094G>C (n.27-47094G>C) | |
2 | g.31580860C>T | CA346599229 | SRD5A2 | c.41G>A (p.Ser14Asn) c.27-47094G>A (n.27-47094G>A) | |
2 | g.31580861T>A | CA346599230 | SRD5A2 | c.40A>T (p.Ser14Cys) c.27-47095A>T (n.27-47095A>T) | |
2 | g.31580861T>C | CA346599231 | SRD5A2 | c.40A>G (p.Ser14Gly) c.27-47095A>G (n.27-47095A>G) | |
2 | g.31580861T>G | CA346599232 | SRD5A2 | c.40A>C (p.Ser14Arg) c.27-47095A>C (n.27-47095A>C) | |
2 | g.31580862G>A | CA45142065 | SRD5A2 | c.39C>T (p.Gly13=) c.27-47096C>T (n.27-47096C>T) | dbSNP gnomAD v4 |
2 | g.31580862G>C | CA425627047 | SRD5A2 | c.39C>G (p.Gly13=) c.27-47096C>G (n.27-47096C>G) | |
2 | g.31580862G= | CA1242221172 | SRD5A2 | c.39C= (p.Gly13=) c.27-47096C= (n.27-47096C=) | |
2 | g.31580862G>T | CA425627049 | SRD5A2 | c.39C>A (p.Gly13=) c.27-47096C>A (n.27-47096C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580863C>A | CA346599233 | SRD5A2 | c.38G>T (p.Gly13Val) c.27-47097G>T (n.27-47097G>T) | |
2 | g.31580863C= | CA1242221173 | SRD5A2 | c.38G= (p.Gly13=) c.27-47097G= (n.27-47097G=) | |
2 | g.31580863C>G | CA346599234 | SRD5A2 | c.38G>C (p.Gly13Ala) c.27-47097G>C (n.27-47097G>C) | |
2 | g.31580863C>T | CA1600040 | SRD5A2 | c.38G>A (p.Gly13Asp) c.27-47097G>A (n.27-47097G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580864C>A | CA346599237 | SRD5A2 | c.37G>T (p.Gly13Cys) c.27-47098G>T (n.27-47098G>T) | |
2 | g.31580864C= | CA1242221174 | SRD5A2 | c.37G= (p.Gly13=) c.27-47098G= (n.27-47098G=) | |
2 | g.31580864C>G | CA346599236 | SRD5A2 | c.37G>C (p.Gly13Arg) c.27-47098G>C (n.27-47098G>C) | dbSNP gnomAD v4 |
2 | g.31580864C>T | CA346599235 | SRD5A2 | c.37G>A (p.Gly13Ser) c.27-47098G>A (n.27-47098G>A) | |
2 | g.31580865T>A | CA425627059 | SRD5A2 | c.36A>T (p.Ala12=) c.27-47099A>T (n.27-47099A>T) | |
2 | g.31580865T>C | CA425627060 | SRD5A2 | c.36A>G (p.Ala12=) c.27-47099A>G (n.27-47099A>G) | |
2 | g.31580865T>G | CA425627063 | SRD5A2 | c.36A>C (p.Ala12=) c.27-47099A>C (n.27-47099A>C) | |
2 | g.31580866G>A | CA346599238 | SRD5A2 | c.35C>T (p.Ala12Val) c.27-47100C>T (n.27-47100C>T) | gnomAD v4 |
2 | g.31580866G>C | CA346599239 | SRD5A2 | c.35C>G (p.Ala12Gly) c.27-47100C>G (n.27-47100C>G) | |
2 | g.31580866G>T | CA346599240 | SRD5A2 | c.35C>A (p.Ala12Glu) c.27-47100C>A (n.27-47100C>A) | ClinVar gnomAD v4 |
2 | g.31580866_31580867delinsGC | CA1242221175 | SRD5A2 | c.34_35delinsGC (p.Ala12=) c.27-47101_27-47100delinsGC (n.27-47101_27-47100delinsGC) | |
2 | g.31580867C>A | CA346599241 | SRD5A2 | c.34G>T (p.Ala12Ser) c.27-47101G>T (n.27-47101G>T) | |
2 | g.31580867C>G | CA346599242 | SRD5A2 | c.34G>C (p.Ala12Pro) c.27-47101G>C (n.27-47101G>C) | |
2 | g.31580867C>T | CA346599243 | SRD5A2 | c.34G>A (p.Ala12Thr) c.27-47101G>A (n.27-47101G>A) | gnomAD v4 COSMIC |
2 | g.31580867delinsGCTGG | CA2586969051 | SRD5A2 | c.34delinsCCAGC (p.Ala12ProfsTer?) c.27-47101delinsCCAGC (n.27-47101delinsCCAGC) | |
2 | g.31580868del | CA1242221176 | SRD5A2 | c.34del (p.Ala12GlnfsTer29) c.27-47101del (n.27-47101del) | dbSNP |
2 | g.31580868C>A | CA425627075 | SRD5A2 | c.33G>T (p.Leu11=) c.27-47102G>T (n.27-47102G>T) | |
2 | g.31580868C= | CA1242221177 | SRD5A2 | c.33G= (p.Leu11=) c.27-47102G= (n.27-47102G=) | |
2 | g.31580868C>G | CA425627076 | SRD5A2 | c.33G>C (p.Leu11=) c.27-47102G>C (n.27-47102G>C) | |
2 | g.31580868C>T | CA425627086 | SRD5A2 | c.33G>A (p.Leu11=) c.27-47102G>A (n.27-47102G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580869A= | CA1242221178 | SRD5A2 | c.32T= (p.Leu11=) c.27-47103T= (n.27-47103T=) | |
2 | g.31580869A>C | CA346599244 | SRD5A2 | c.32T>G (p.Leu11Arg) c.27-47103T>G (n.27-47103T>G) | |
2 | g.31580869A>G | CA346599245 | SRD5A2 | c.32T>C (p.Leu11Pro) c.27-47103T>C (n.27-47103T>C) | |
2 | g.31580869A>T | CA1600041 | SRD5A2 | c.32T>A (p.Leu11Gln) c.27-47103T>A (n.27-47103T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580870G>A | CA425627095 | SRD5A2 | c.31C>T (p.Leu11=) c.27-47104C>T (n.27-47104C>T) | gnomAD v4 |
2 | g.31580870G>C | CA346599246 | SRD5A2 | c.31C>G (p.Leu11Val) c.27-47104C>G (n.27-47104C>G) | |
2 | g.31580870G>T | CA346599247 | SRD5A2 | c.31C>A (p.Leu11Met) c.27-47104C>A (n.27-47104C>A) | gnomAD v4 |
2 | g.31580871C>A | CA425627100 | SRD5A2 | c.30G>T (p.Val10=) c.27-47105G>T (n.27-47105G>T) | |
2 | g.31580871C>G | CA425627103 | SRD5A2 | c.30G>C (p.Val10=) c.27-47105G>C (n.27-47105G>C) | |
2 | g.31580871C>T | CA425627105 | SRD5A2 | c.30G>A (p.Val10=) c.27-47105G>A (n.27-47105G>A) | |
2 | g.31580872A>C | CA346599250 | SRD5A2 | c.29T>G (p.Val10Gly) c.27-47106T>G (n.27-47106T>G) | |
2 | g.31580872A>G | CA346599249 | SRD5A2 | c.29T>C (p.Val10Ala) c.27-47106T>C (n.27-47106T>C) | |
2 | g.31580872A>T | CA346599248 | SRD5A2 | c.29T>A (p.Val10Glu) c.27-47106T>A (n.27-47106T>A) | |
2 | g.31580873C>A | CA346599251 | SRD5A2 | c.28G>T (p.Val10Leu) c.27-47107G>T (n.27-47107G>T) | |
2 | g.31580873C= | CA1242221179 | SRD5A2 | c.28G= (p.Val10=) c.27-47107G= (n.27-47107G=) | |
2 | g.31580873C>G | CA346599252 | SRD5A2 | c.28G>C (p.Val10Leu) c.27-47107G>C (n.27-47107G>C) | |
2 | g.31580873C>T | CA346599253 | SRD5A2 | c.28G>A (p.Val10Met) c.27-47107G>A (n.27-47107G>A) | dbSNP gnomAD v4 |
2 | g.31580874T>A | CA425627121 | SRD5A2 | c.27A>T (p.Pro9=) c.27-47108A>T (n.27-47108A>T) | |
2 | g.31580874T>C | CA425627123 | SRD5A2 | c.27A>G (p.Pro9=) c.27-47108A>G (n.27-47108A>G) | |
2 | g.31580874T>G | CA425627125 | SRD5A2 | c.27A>C (p.Pro9=) c.27-47108A>C (n.27-47108A>C) | gnomAD v4 |
2 | g.31580875G>A | CA346599254 | SRD5A2 | c.26C>T (p.Pro9Leu) c.27-47109C>T (n.27-47109C>T) | gnomAD v4 |
2 | g.31580875G>C | CA346599255 | SRD5A2 | c.26C>G (p.Pro9Arg) c.27-47109C>G (n.27-47109C>G) | |
2 | g.31580875G>T | CA346599256 | SRD5A2 | c.26C>A (p.Pro9Gln) c.27-47109C>A (n.27-47109C>A) | gnomAD v4 |
2 | g.31580876G>A | CA45142066 | SRD5A2 | c.25C>T (p.Pro9Ser) c.27-47110C>T (n.27-47110C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.31580876G>C | CA346599257 | SRD5A2 | c.25C>G (p.Pro9Ala) c.27-47110C>G (n.27-47110C>G) | |
2 | g.31580876G= | CA1242221180 | SRD5A2 | c.25C= (p.Pro9=) c.27-47110C= (n.27-47110C=) | |
2 | g.31580876G>T | CA346599258 | SRD5A2 | c.25C>A (p.Pro9Thr) c.27-47110C>A (n.27-47110C>A) | |
2 | g.31580877G>A | CA425627136 | SRD5A2 | c.24C>T (p.Ser8=) c.27-47111C>T (n.27-47111C>T) | COSMIC |
2 | g.31580877G>C | CA346599259 | SRD5A2 | c.24C>G (p.Ser8Arg) c.27-47111C>G (n.27-47111C>G) | |
2 | g.31580877G>T | CA346599260 | SRD5A2 | c.24C>A (p.Ser8Arg) c.27-47111C>A (n.27-47111C>A) | |
2 | g.31580878C>A | CA346599261 | SRD5A2 | c.23G>T (p.Ser8Ile) c.27-47112G>T (n.27-47112G>T) | gnomAD v4 |
2 | g.31580878C>G | CA346599262 | SRD5A2 | c.23G>C (p.Ser8Thr) c.27-47112G>C (n.27-47112G>C) | |
2 | g.31580878C>T | CA346599263 | SRD5A2 | c.23G>A (p.Ser8Asn) c.27-47112G>A (n.27-47112G>A) | gnomAD v4 |
2 | g.31580879T>A | CA346599264 | SRD5A2 | c.22A>T (p.Ser8Cys) c.27-47113A>T (n.27-47113A>T) | |
2 | g.31580879T>C | CA346599266 | SRD5A2 | c.22A>G (p.Ser8Gly) c.27-47113A>G (n.27-47113A>G) | |
2 | g.31580879T>G | CA346599265 | SRD5A2 | c.22A>C (p.Ser8Arg) c.27-47113A>C (n.27-47113A>C) | |
2 | g.31580879_31580880insTA | CA2586969052 | SRD5A2 | c.21_22insTA (p.Ser8Ter) c.27-47114_27-47113insTA (n.27-47114_27-47113insTA) | |
2 | g.31580880C>A | CA346599267 | SRD5A2 | c.21G>T (p.Gln7His) c.27-47114G>T (n.27-47114G>T) | |
2 | g.31580880C>G | CA346599268 | SRD5A2 | c.21G>C (p.Gln7His) c.27-47114G>C (n.27-47114G>C) | |
2 | g.31580880C>T | CA425627151 | SRD5A2 | c.21G>A (p.Gln7=) c.27-47114G>A (n.27-47114G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.31580881T>A | CA346599269 | SRD5A2 | c.20A>T (p.Gln7Leu) c.27-47115A>T (n.27-47115A>T) | |
2 | g.31580881T>C | CA346599270 | SRD5A2 | c.20A>G (p.Gln7Arg) c.27-47115A>G (n.27-47115A>G) | |
2 | g.31580881T>G | CA346599271 | SRD5A2 | c.20A>C (p.Gln7Pro) c.27-47115A>C (n.27-47115A>C) | |
2 | g.31580882G>A | CA346599272 | SRD5A2 | c.19C>T (p.Gln7Ter) c.27-47116C>T (n.27-47116C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.31580882G>C | CA1600042 | SRD5A2 | c.19C>G (p.Gln7Glu) c.27-47116C>G (n.27-47116C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580882G= | CA1242221181 | SRD5A2 | c.19C= (p.Gln7=) c.27-47116C= (n.27-47116C=) | |
2 | g.31580882G>T | CA346599273 | SRD5A2 | c.19C>A (p.Gln7Lys) c.27-47116C>A (n.27-47116C>A) | gnomAD v4 |
2 | g.31580883C>A | CA346599274 | SRD5A2 | c.18G>T (p.Gln6His) c.27-47117G>T (n.27-47117G>T) | gnomAD v4 |
2 | g.31580883C>G | CA346599275 | SRD5A2 | c.18G>C (p.Gln6His) c.27-47117G>C (n.27-47117G>C) | |
2 | g.31580883C>T | CA425627160 | SRD5A2 | c.18G>A (p.Gln6=) c.27-47117G>A (n.27-47117G>A) | |
2 | g.31580884T>A | CA346599278 | SRD5A2 | c.17A>T (p.Gln6Leu) c.27-47118A>T (n.27-47118A>T) | |
2 | g.31580884T>C | CA346599277 | SRD5A2 | c.17A>G (p.Gln6Arg) c.27-47118A>G (n.27-47118A>G) | |
2 | g.31580884T>G | CA346599276 | SRD5A2 | c.17A>C (p.Gln6Pro) c.27-47118A>C (n.27-47118A>C) | |
2 | g.31580885G>A | CA1600043 | SRD5A2 | c.16C>T (p.Gln6Ter) c.27-47119C>T (n.27-47119C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580885G>C | CA346599279 | SRD5A2 | c.16C>G (p.Gln6Glu) c.27-47119C>G (n.27-47119C>G) | |
2 | g.31580885G= | CA1242221182 | SRD5A2 | c.16C= (p.Gln6=) c.27-47119C= (n.27-47119C=) | |
2 | g.31580885G>T | CA346599280 | SRD5A2 | c.16C>A (p.Gln6Lys) c.27-47119C>A (n.27-47119C>A) | |
2 | g.31580886G>A | CA425627173 | SRD5A2 | c.15C>T (p.Cys5=) c.27-47120C>T (n.27-47120C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580886G>C | CA346599281 | SRD5A2 | c.15C>G (p.Cys5Trp) c.27-47120C>G (n.27-47120C>G) | |
2 | g.31580886G= | CA1242221183 | SRD5A2 | c.15C= (p.Cys5=) c.27-47120C= (n.27-47120C=) | |
2 | g.31580886G>T | CA346599282 | SRD5A2 | c.15C>A (p.Cys5Ter) c.27-47120C>A (n.27-47120C>A) | gnomAD v4 |
2 | g.31580887C>A | CA346599283 | SRD5A2 | c.14G>T (p.Cys5Phe) c.27-47121G>T (n.27-47121G>T) | gnomAD v4 |
2 | g.31580887C>G | CA346599284 | SRD5A2 | c.14G>C (p.Cys5Ser) c.27-47121G>C (n.27-47121G>C) | |
2 | g.31580887C>T | CA346599285 | SRD5A2 | c.14G>A (p.Cys5Tyr) c.27-47121G>A (n.27-47121G>A) | gnomAD v4 |
2 | g.31580888A= | CA1242221184 | SRD5A2 | c.13T= (p.Cys5=) c.27-47122T= (n.27-47122T=) | |
2 | g.31580888A>C | CA346599286 | SRD5A2 | c.13T>G (p.Cys5Gly) c.27-47122T>G (n.27-47122T>G) | gnomAD v4 |
2 | g.31580888A>G | CA224879 | SRD5A2 | c.13T>C (p.Cys5Arg) c.27-47122T>C (n.27-47122T>C) | ClinVar dbSNP |
2 | g.31580888A>T | CA346599287 | SRD5A2 | c.13T>A (p.Cys5Ser) c.27-47122T>A (n.27-47122T>A) | |
2 | g.31580889C>A | CA346599288 | SRD5A2 | c.12G>T (p.Gln4His) c.27-47123G>T (n.27-47123G>T) | COSMIC |
2 | g.31580889C>G | CA346599289 | SRD5A2 | c.12G>C (p.Gln4His) c.27-47123G>C (n.27-47123G>C) | |
2 | g.31580889C>T | CA425627192 | SRD5A2 | c.12G>A (p.Gln4=) c.27-47123G>A (n.27-47123G>A) | |
2 | g.31580890T>A | CA346599292 | SRD5A2 | c.11A>T (p.Gln4Leu) c.27-47124A>T (n.27-47124A>T) | |
2 | g.31580890T>C | CA346599291 | SRD5A2 | c.11A>G (p.Gln4Arg) c.27-47124A>G (n.27-47124A>G) | gnomAD v4 |
2 | g.31580890T>G | CA346599290 | SRD5A2 | c.11A>C (p.Gln4Pro) c.27-47124A>C (n.27-47124A>C) | |
2 | g.31580891G>A | CA346599293 | SRD5A2 | c.10C>T (p.Gln4Ter) c.27-47125C>T (n.27-47125C>T) | ClinVar |
2 | g.31580891G>C | CA346599294 | SRD5A2 | c.10C>G (p.Gln4Glu) c.27-47125C>G (n.27-47125C>G) | |
2 | g.31580891G>T | CA346599295 | SRD5A2 | c.10C>A (p.Gln4Lys) c.27-47125C>A (n.27-47125C>A) | |
2 | g.31580892A>C | CA425627198 | SRD5A2 | c.9T>G (p.Val3=) c.27-47126T>G (n.27-47126T>G) | |
2 | g.31580892A>G | CA425627200 | SRD5A2 | c.9T>C (p.Val3=) c.27-47126T>C (n.27-47126T>C) | |
2 | g.31580892A>T | CA425627203 | SRD5A2 | c.9T>A (p.Val3=) c.27-47126T>A (n.27-47126T>A) | |
2 | g.31580893A= | CA1242221185 | SRD5A2 | c.8T= (p.Val3=) c.27-47127T= (n.27-47127T=) | |
2 | g.31580893A>C | CA346599296 | SRD5A2 | c.8T>G (p.Val3Gly) c.27-47127T>G (n.27-47127T>G) | |
2 | g.31580893A>G | CA1600044 | SRD5A2 | c.8T>C (p.Val3Ala) c.27-47127T>C (n.27-47127T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.31580893A>T | CA346599297 | SRD5A2 | c.8T>A (p.Val3Asp) c.27-47127T>A (n.27-47127T>A) | |
2 | g.31580894C>A | CA346599298 | SRD5A2 | c.7G>T (p.Val3Phe) c.27-47128G>T (n.27-47128G>T) | gnomAD v4 |
2 | g.31580894C= | CA1242221186 | SRD5A2 | c.7G= (p.Val3=) c.27-47128G= (n.27-47128G=) | |
2 | g.31580894C>G | CA346599299 | SRD5A2 | c.7G>C (p.Val3Leu) c.27-47128G>C (n.27-47128G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580894C>T | CA1600045 | SRD5A2 | c.7G>A (p.Val3Ile) c.27-47128G>A (n.27-47128G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580895C>A | CA346599300 | SRD5A2 | c.6G>T (p.Gln2His) c.27-47129G>T (n.27-47129G>T) | |
2 | g.31580895C>G | CA346599301 | SRD5A2 | c.6G>C (p.Gln2His) c.27-47129G>C (n.27-47129G>C) | |
2 | g.31580895C>T | CA425627212 | SRD5A2 | c.6G>A (p.Gln2=) c.27-47129G>A (n.27-47129G>A) | gnomAD v4 |
2 | g.31580896T>A | CA346599302 | SRD5A2 | c.5A>T (p.Gln2Leu) c.27-47130A>T (n.27-47130A>T) | COSMIC |
2 | g.31580896T>C | CA346599303 | SRD5A2 | c.5A>G (p.Gln2Arg) c.27-47130A>G (n.27-47130A>G) | |
2 | g.31580896T>G | CA346599304 | SRD5A2 | c.5A>C (p.Gln2Pro) c.27-47130A>C (n.27-47130A>C) | |
2 | g.31580897G>A | CA346599306 | SRD5A2 | c.4C>T (p.Gln2Ter) c.27-47131C>T (n.27-47131C>T) | gnomAD v4 |
2 | g.31580897G>C | CA45142067 | SRD5A2 | c.4C>G (p.Gln2Glu) c.27-47131C>G (n.27-47131C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580897G= | CA1242221187 | SRD5A2 | c.4C= (p.Gln2=) c.27-47131C= (n.27-47131C=) | |
2 | g.31580897G>T | CA346599305 | SRD5A2 | c.4C>A (p.Gln2Lys) c.27-47131C>A (n.27-47131C>A) | gnomAD v4 |
2 | g.31580898C>A | CA346599307 | SRD5A2 | c.3G>T (p.Met1Ile) c.27-47132G>T (n.27-47132G>T) | |
2 | g.31580898C>G | CA346599308 | SRD5A2 | c.3G>C (p.Met1Ile) c.27-47132G>C (n.27-47132G>C) | |
2 | g.31580898C>T | CA346599309 | SRD5A2 | c.3G>A (p.Met1Ile) c.27-47132G>A (n.27-47132G>A) | gnomAD v4 |
2 | g.31580898_31580899insT | CA2586969053 | SRD5A2 | c.2_3insA (p.Met1IlefsTer?) c.27-47133_27-47132insA (n.27-47133_27-47132insA) | |
2 | g.31580899A= | CA1242221188 | SRD5A2 | c.2T= (p.Met1=) c.27-47133T= (n.27-47133T=) | |
2 | g.31580899A>C | CA346599310 | SRD5A2 | c.2T>G (p.Met1Arg) c.27-47133T>G (n.27-47133T>G) | |
2 | g.31580899A>G | CA10588340 | SRD5A2 | c.2T>C (p.Met1Thr) c.27-47133T>C (n.27-47133T>C) | ClinVar dbSNP |
2 | g.31580899A>T | CA346599311 | SRD5A2 | c.2T>A (p.Met1Lys) c.27-47133T>A (n.27-47133T>A) | |
2 | g.31580900T>A | CA346599312 | SRD5A2 | c.1A>T (p.Met1Leu) c.27-47134A>T (n.27-47134A>T) | |
2 | g.31580900T>C | CA346599313 | SRD5A2 | c.1A>G (p.Met1Val) c.27-47134A>G (n.27-47134A>G) | |
2 | g.31580900T>G | CA346599314 | SRD5A2 | c.1A>C (p.Met1Leu) c.27-47134A>C (n.27-47134A>C) | |
2 | g.31580904_31580917del | CA2658512718 | SRD5A2 | c.-13_1del (n.-13_1del) c.27-47147_27-47134del (n.27-47147_27-47134del) | gnomAD v4 |
2 | g.31580901C>A | CA425627243 | SRD5A2 | c.-1G>T (n.-1G>T) c.27-47135G>T (n.27-47135G>T) | gnomAD v4 |
2 | g.31580901C= | CA1242221189 | SRD5A2 | c.-1G= (n.-1G=) c.27-47135G= (n.27-47135G=) | |
2 | g.31580901C>G | CA425627244 | SRD5A2 | c.-1G>C (n.-1G>C) c.27-47135G>C (n.27-47135G>C) | |
2 | g.31580901C>T | CA425627245 | SRD5A2 | c.-1G>A (n.-1G>A) c.27-47135G>A (n.27-47135G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580902G>A | CA425627249 | SRD5A2 | c.-2C>T (n.-2C>T) c.27-47136C>T (n.27-47136C>T) | dbSNP gnomAD v4 COSMIC |
2 | g.31580902G>C | CA425627252 | SRD5A2 | c.-2C>G (n.-2C>G) c.27-47136C>G (n.27-47136C>G) | |
2 | g.31580902G= | CA1242221190 | SRD5A2 | c.-2C= (n.-2C=) c.27-47136C= (n.27-47136C=) | |
2 | g.31580902G>T | CA224878 | SRD5A2 | c.-2C>A (n.-2C>A) c.27-47136C>A (n.27-47136C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.31580902_31580914delinsGCGCCGTGTTCCT | CA1242221191 | SRD5A2 | c.-14_-2delinsAGGAACACGGCGC (n.-14_-2delinsAGGAACACGGCGC) c.27-47148_27-47136delinsAGGAACACGGCGC (n.27-47148_27-47136delinsAGGAACACGGCGC) | |
2 | g.31580903C>A | CA45142068 | SRD5A2 | c.-3G>T (n.-3G>T) c.27-47137G>T (n.27-47137G>T) | dbSNP |
2 | g.31580903C= | CA1242221192 | SRD5A2 | c.-3G= (n.-3G=) c.27-47137G= (n.27-47137G=) | |
2 | g.31580903C>G | CA425627256 | SRD5A2 | c.-3G>C (n.-3G>C) c.27-47137G>C (n.27-47137G>C) | |
2 | g.31580903C>T | CA425627255 | SRD5A2 | c.-3G>A (n.-3G>A) c.27-47137G>A (n.27-47137G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580908_31580919del | CA1600046 | SRD5A2 | c.-14_-3del (n.-14_-3del) c.27-47148_27-47137del (n.27-47148_27-47137del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580904G>A | CA425627260 | SRD5A2 | c.-4C>T (n.-4C>T) c.27-47138C>T (n.27-47138C>T) | gnomAD v4 |
2 | g.31580904G>C | CA425627264 | SRD5A2 | c.-4C>G (n.-4C>G) c.27-47138C>G (n.27-47138C>G) | |
2 | g.31580904G= | CA1242221193 | SRD5A2 | c.-4C= (n.-4C=) c.27-47138C= (n.27-47138C=) | |
2 | g.31580904G>T | CA1600047 | SRD5A2 | c.-4C>A (n.-4C>A) c.27-47138C>A (n.27-47138C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580905C>A | CA425627269 | SRD5A2 | c.-5G>T (n.-5G>T) c.27-47139G>T (n.27-47139G>T) | |
2 | g.31580905C>G | CA425627272 | SRD5A2 | c.-5G>C (n.-5G>C) c.27-47139G>C (n.27-47139G>C) | |
2 | g.31580905C>T | CA425627275 | SRD5A2 | c.-5G>A (n.-5G>A) c.27-47139G>A (n.27-47139G>A) | gnomAD v4 |
2 | g.31580906C>A | CA425627279 | SRD5A2 | c.-6G>T (n.-6G>T) c.27-47140G>T (n.27-47140G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580906C= | CA1242221194 | SRD5A2 | c.-6G= (n.-6G=) c.27-47140G= (n.27-47140G=) | |
2 | g.31580906C>G | CA425627283 | SRD5A2 | c.-6G>C (n.-6G>C) c.27-47140G>C (n.27-47140G>C) | |
2 | g.31580906C>T | CA425627286 | SRD5A2 | c.-6G>A (n.-6G>A) c.27-47140G>A (n.27-47140G>A) | gnomAD v4 |