Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.55346365C>A | CA251628 | SRD5A3 | c.29C>A (p.Ser10Ter) | ClinVar dbSNP gnomAD v4 |
4 | g.55346365C= | CA1459044889 | SRD5A3 | c.29C= (p.Ser10=) | |
4 | g.55346365C>G | CA356956551 | SRD5A3 | c.29C>G (p.Ser10Trp) | |
4 | g.55346365C>T | CA356956552 | SRD5A3 | c.29C>T (p.Ser10Leu) | gnomAD v4 |
4 | g.55346365_55346366delinsCG | CA1459044888 | SRD5A3 | c.29_30delinsCG (p.Ser10=) | |
4 | g.55346366G>A | CA439638122 | SRD5A3 | c.30G>A (p.Ser10=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346366G>C | CA439638124 | SRD5A3 | c.30G>C (p.Ser10=) | gnomAD v4 |
4 | g.55346366G= | CA1459044890 | SRD5A3 | c.30G= (p.Ser10=) | |
4 | g.55346366G>T | CA439638126 | SRD5A3 | c.30G>T (p.Ser10=) | gnomAD v4 |
4 | g.55346367del | CA97479123 | SRD5A3 | c.31del (p.Ala11ArgfsTer2) | dbSNP |
4 | g.55346367G>A | CA356956554 | SRD5A3 | c.31G>A (p.Ala11Thr) | dbSNP |
4 | g.55346367G>C | CA356956555 | SRD5A3 | c.31G>C (p.Ala11Pro) | |
4 | g.55346367G= | CA1459044891 | SRD5A3 | c.31G= (p.Ala11=) | |
4 | g.55346367G>T | CA356956553 | SRD5A3 | c.31G>T (p.Ala11Ser) | gnomAD v4 |
4 | g.55346368del | CA2586973894 | SRD5A3 | c.32del (p.Ala11GlyfsTer2) | |
4 | g.55346368C>A | CA356956557 | SRD5A3 | c.32C>A (p.Ala11Glu) | gnomAD v4 |
4 | g.55346368C>G | CA356956556 | SRD5A3 | c.32C>G (p.Ala11Gly) | |
4 | g.55346368C>T | CA356956558 | SRD5A3 | c.32C>T (p.Ala11Val) | gnomAD v4 |
4 | g.55346369G>A | CA439638132 | SRD5A3 | c.33G>A (p.Ala11=) | dbSNP gnomAD v4 |
4 | g.55346369G>C | CA439638131 | SRD5A3 | c.33G>C (p.Ala11=) | |
4 | g.55346369G= | CA1459044892 | SRD5A3 | c.33G= (p.Ala11=) | |
4 | g.55346369G>T | CA439638129 | SRD5A3 | c.33G>T (p.Ala11=) | gnomAD v4 |
4 | g.55346370C>A | CA356956559 | SRD5A3 | c.34C>A (p.Leu12Met) | gnomAD v4 |
4 | g.55346370C>G | CA356956560 | SRD5A3 | c.34C>G (p.Leu12Val) | gnomAD v4 |
4 | g.55346370C>T | CA439638133 | SRD5A3 | c.34C>T (p.Leu12=) | gnomAD v4 |
4 | g.55346371T>A | CA356956561 | SRD5A3 | c.35T>A (p.Leu12Gln) | gnomAD v4 |
4 | g.55346371T>C | CA356956562 | SRD5A3 | c.35T>C (p.Leu12Pro) | gnomAD v4 |
4 | g.55346371T>G | CA356956563 | SRD5A3 | c.35T>G (p.Leu12Arg) | |
4 | g.55346372G>A | CA439638137 | SRD5A3 | c.36G>A (p.Leu12=) | gnomAD v4 |
4 | g.55346372G>C | CA439638134 | SRD5A3 | c.36G>C (p.Leu12=) | |
4 | g.55346372G>T | CA439638136 | SRD5A3 | c.36G>T (p.Leu12=) | gnomAD v4 |
4 | g.55346373A>C | CA356956564 | SRD5A3 | c.37A>C (p.Asn13His) | |
4 | g.55346373A>G | CA356956565 | SRD5A3 | c.37A>G (p.Asn13Asp) | |
4 | g.55346373A>T | CA356956566 | SRD5A3 | c.37A>T (p.Asn13Tyr) | gnomAD v4 |
4 | g.55346374A= | CA1459044893 | SRD5A3 | c.38A= (p.Asn13=) | |
4 | g.55346374A>C | CA2925189 | SRD5A3 | c.38A>C (p.Asn13Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346374A>G | CA2925190 | SRD5A3 | c.38A>G (p.Asn13Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346374A>T | CA356956567 | SRD5A3 | c.38A>T (p.Asn13Ile) | |
4 | g.55346374_55346375insTG | CA2761730760 | SRD5A3 | c.38_39insTG (p.Pro14AlafsTer10) | |
4 | g.55346375C>A | CA356956568 | SRD5A3 | c.39C>A (p.Asn13Lys) | gnomAD v4 |
4 | g.55346375C= | CA1459044894 | SRD5A3 | c.39C= (p.Asn13=) | |
4 | g.55346375C>G | CA356956569 | SRD5A3 | c.39C>G (p.Asn13Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346375C>T | CA439638139 | SRD5A3 | c.39C>T (p.Asn13=) | |
4 | g.55346375_55346376insGCTGGTTCGGGCCGTGCTGGAGGAGCGGG | CA2761730764 | SRD5A3 | c.39_40insGCTGGTTCGGGCCGTGCTGGAGGAGCGGG (p.Pro14AlafsTer19) | |
4 | g.55346376C>A | CA356956570 | SRD5A3 | c.40C>A (p.Pro14Thr) | gnomAD v4 |
4 | g.55346376C= | CA1459044895 | SRD5A3 | c.40C= (p.Pro14=) | |
4 | g.55346376C>G | CA356956571 | SRD5A3 | c.40C>G (p.Pro14Ala) | |
4 | g.55346376C>T | CA2925191 | SRD5A3 | c.40C>T (p.Pro14Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346377C>A | CA356956572 | SRD5A3 | c.41C>A (p.Pro14Gln) | gnomAD v4 |
4 | g.55346377C= | CA1459044896 | SRD5A3 | c.41C= (p.Pro14=) | |
4 | g.55346377C>G | CA2925192 | SRD5A3 | c.41C>G (p.Pro14Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.55346377C>T | CA356956573 | SRD5A3 | c.41C>T (p.Pro14Leu) | |
4 | g.55346378G>A | CA2925193 | SRD5A3 | c.42G>A (p.Pro14=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346378G>C | CA439638143 | SRD5A3 | c.42G>C (p.Pro14=) | |
4 | g.55346378G= | CA1459044897 | SRD5A3 | c.42G= (p.Pro14=) | |
4 | g.55346378G>T | CA439638144 | SRD5A3 | c.42G>T (p.Pro14=) | dbSNP gnomAD v4 |
4 | g.55346379C>A | CA356956574 | SRD5A3 | c.43C>A (p.Leu15Met) | gnomAD v4 |
4 | g.55346379C= | CA1459044898 | SRD5A3 | c.43C= (p.Leu15=) | |
4 | g.55346379C>G | CA356956575 | SRD5A3 | c.43C>G (p.Leu15Val) | |
4 | g.55346379C>T | CA238976 | SRD5A3 | c.43C>T (p.Leu15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346380T>A | CA356956576 | SRD5A3 | c.44T>A (p.Leu15Gln) | |
4 | g.55346380T>C | CA356956577 | SRD5A3 | c.44T>C (p.Leu15Pro) | |
4 | g.55346380T>G | CA356956578 | SRD5A3 | c.44T>G (p.Leu15Arg) | |
4 | g.55346381G>A | CA439638146 | SRD5A3 | c.45G>A (p.Leu15=) | gnomAD v4 |
4 | g.55346381G>C | CA439638147 | SRD5A3 | c.45G>C (p.Leu15=) | |
4 | g.55346381G>T | CA439638148 | SRD5A3 | c.45G>T (p.Leu15=) | gnomAD v4 |
4 | g.55346381_55346382insGTCCAGG | CA2565484315 | SRD5A3 | c.45_46insGTCCAGG (p.Arg16ValfsTer?) | |
4 | g.55346382C>A | CA356956581 | SRD5A3 | c.46C>A (p.Arg16Ser) | gnomAD v4 |
4 | g.55346382C= | CA1459044899 | SRD5A3 | c.46C= (p.Arg16=) | |
4 | g.55346382C>G | CA356956580 | SRD5A3 | c.46C>G (p.Arg16Gly) | dbSNP gnomAD v4 |
4 | g.55346382C>T | CA356956579 | SRD5A3 | c.46C>T (p.Arg16Cys) | gnomAD v4 |
4 | g.55346383G>A | CA356956582 | SRD5A3 | c.47G>A (p.Arg16His) | ClinVar gnomAD v4 |
4 | g.55346383G>C | CA356956583 | SRD5A3 | c.47G>C (p.Arg16Pro) | |
4 | g.55346383G>T | CA356956584 | SRD5A3 | c.47G>T (p.Arg16Leu) | gnomAD v4 |
4 | g.55346384C>A | CA439638151 | SRD5A3 | c.48C>A (p.Arg16=) | gnomAD v4 |
4 | g.55346384C>G | CA439638152 | SRD5A3 | c.48C>G (p.Arg16=) | |
4 | g.55346384C>T | CA439638153 | SRD5A3 | c.48C>T (p.Arg16=) | gnomAD v4 |
4 | g.55346384_55346385delinsCG | CA1459044900 | SRD5A3 | c.48_49delinsCG (p.Arg16=) | |
4 | g.55346385del | CA97479124 | SRD5A3 | c.49del (p.Ala17ArgfsTer6) | dbSNP |
4 | g.55346385G>A | CA356956585 | SRD5A3 | c.49G>A (p.Ala17Thr) | gnomAD v4 |
4 | g.55346385G>C | CA356956586 | SRD5A3 | c.49G>C (p.Ala17Pro) | gnomAD v4 |
4 | g.55346385G>T | CA356956587 | SRD5A3 | c.49G>T (p.Ala17Ser) | gnomAD v4 |
4 | g.55346386C>A | CA356956588 | SRD5A3 | c.50C>A (p.Ala17Glu) | gnomAD v4 |
4 | g.55346386C= | CA1459044901 | SRD5A3 | c.50C= (p.Ala17=) | |
4 | g.55346386C>G | CA356956589 | SRD5A3 | c.50C>G (p.Ala17Gly) | |
4 | g.55346386C>T | CA356956590 | SRD5A3 | c.50C>T (p.Ala17Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346386_55346396del | CA2580071149 | SRD5A3 | c.50_60del (p.Ala17AspfsTer?) | ClinVar |
4 | g.55346387G>A | CA439638154 | SRD5A3 | c.51G>A (p.Ala17=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346387G>C | CA2925194 | SRD5A3 | c.51G>C (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346387G= | CA1459044902 | SRD5A3 | c.51G= (p.Ala17=) | |
4 | g.55346387G>T | CA238974 | SRD5A3 | c.51G>T (p.Ala17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346388G>A | CA356956593 | SRD5A3 | c.52G>A (p.Val18Met) | gnomAD v4 |
4 | g.55346388G>C | CA356956592 | SRD5A3 | c.52G>C (p.Val18Leu) | |
4 | g.55346388G= | CA1459044903 | SRD5A3 | c.52G= (p.Val18=) | |
4 | g.55346388G>T | CA356956591 | SRD5A3 | c.52G>T (p.Val18Leu) | gnomAD v4 |
4 | g.55346391_55346392dup | CA796416734 | SRD5A3 | c.55_56dup (p.Trp19CysfsTer5) | dbSNP |
4 | g.55346389T>A | CA356956594 | SRD5A3 | c.53T>A (p.Val18Glu) | |
4 | g.55346389T>C | CA356956595 | SRD5A3 | c.53T>C (p.Val18Ala) | gnomAD v4 |
4 | g.55346389T>G | CA356956596 | SRD5A3 | c.53T>G (p.Val18Gly) | dbSNP |
4 | g.55346389T= | CA1459044904 | SRD5A3 | c.53T= (p.Val18=) | |
4 | g.55346389dup | CA97479125 | SRD5A3 | c.53dup (p.Trp19ValfsTer?) | dbSNP |
4 | g.55346390G>A | CA97479126 | SRD5A3 | c.54G>A (p.Val18=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346390G>C | CA439638157 | SRD5A3 | c.54G>C (p.Val18=) | |
4 | g.55346390G= | CA1459044905 | SRD5A3 | c.54G= (p.Val18=) | |
4 | g.55346390G>T | CA439638158 | SRD5A3 | c.54G>T (p.Val18=) | |
4 | g.55346391T>A | CA356956597 | SRD5A3 | c.55T>A (p.Trp19Arg) | |
4 | g.55346391T>C | CA356956598 | SRD5A3 | c.55T>C (p.Trp19Arg) | gnomAD v4 |
4 | g.55346391T>G | CA356956599 | SRD5A3 | c.55T>G (p.Trp19Gly) | |
4 | g.55346392G>A | CA356956600 | SRD5A3 | c.56G>A (p.Trp19Ter) | gnomAD v4 |
4 | g.55346392G>C | CA356956601 | SRD5A3 | c.56G>C (p.Trp19Ser) | |
4 | g.55346392G= | CA1459044906 | SRD5A3 | c.56G= (p.Trp19=) | |
4 | g.55346392G>T | CA2925195 | SRD5A3 | c.56G>T (p.Trp19Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346393G>A | CA223758 | SRD5A3 | c.57G>A (p.Trp19Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346393G>C | CA356956602 | SRD5A3 | c.57G>C (p.Trp19Cys) | dbSNP |
4 | g.55346393G= | CA1459044907 | SRD5A3 | c.57G= (p.Trp19=) | |
4 | g.55346393G>T | CA356956603 | SRD5A3 | c.57G>T (p.Trp19Cys) | dbSNP gnomAD v4 |
4 | g.55346394C>A | CA356956605 | SRD5A3 | c.58C>A (p.Leu20Ile) | gnomAD v4 |
4 | g.55346394C>G | CA356956606 | SRD5A3 | c.58C>G (p.Leu20Val) | |
4 | g.55346394C>T | CA356956604 | SRD5A3 | c.58C>T (p.Leu20Phe) | gnomAD v4 |
4 | g.55346395T>A | CA356956609 | SRD5A3 | c.59T>A (p.Leu20His) | |
4 | g.55346395T>C | CA356956607 | SRD5A3 | c.59T>C (p.Leu20Pro) | gnomAD v4 |
4 | g.55346395T>G | CA356956608 | SRD5A3 | c.59T>G (p.Leu20Arg) | |
4 | g.55346396C>A | CA439638162 | SRD5A3 | c.60C>A (p.Leu20=) | gnomAD v4 |
4 | g.55346396C= | CA1459044908 | SRD5A3 | c.60C= (p.Leu20=) | |
4 | g.55346396C>G | CA2925196 | SRD5A3 | c.60C>G (p.Leu20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346396C>T | CA97479127 | SRD5A3 | c.60C>T (p.Leu20=) | dbSNP gnomAD v4 |
4 | g.55346397A= | CA1459044909 | SRD5A3 | c.61A= (p.Thr21=) | |
4 | g.55346397A>C | CA356956610 | SRD5A3 | c.61A>C (p.Thr21Pro) | gnomAD v4 |
4 | g.55346397A>G | CA356956611 | SRD5A3 | c.61A>G (p.Thr21Ala) | |
4 | g.55346397A>T | CA97479128 | SRD5A3 | c.61A>T (p.Thr21Ser) | dbSNP |
4 | g.55346398C>A | CA356956612 | SRD5A3 | c.62C>A (p.Thr21Lys) | gnomAD v4 |
4 | g.55346398C= | CA1459044910 | SRD5A3 | c.62C= (p.Thr21=) | |
4 | g.55346398C>G | CA356956613 | SRD5A3 | c.62C>G (p.Thr21Arg) | |
4 | g.55346398C>T | CA356956614 | SRD5A3 | c.62C>T (p.Thr21Met) | dbSNP gnomAD v4 |
4 | g.55346399G>A | CA439638166 | SRD5A3 | c.63G>A (p.Thr21=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346399G>C | CA439638167 | SRD5A3 | c.63G>C (p.Thr21=) | |
4 | g.55346399G= | CA1459044911 | SRD5A3 | c.63G= (p.Thr21=) | |
4 | g.55346399G>T | CA439638168 | SRD5A3 | c.63G>T (p.Thr21=) | gnomAD v4 |
4 | g.55346400C>A | CA97479129 | SRD5A3 | c.64C>A (p.Leu22Met) | dbSNP gnomAD v4 |
4 | g.55346400C= | CA1459044912 | SRD5A3 | c.64C= (p.Leu22=) | |
4 | g.55346400C>G | CA2925197 | SRD5A3 | c.64C>G (p.Leu22Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346400C>T | CA439638172 | SRD5A3 | c.64C>T (p.Leu22=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346401T>A | CA356956616 | SRD5A3 | c.65T>A (p.Leu22Gln) | |
4 | g.55346401T>C | CA356956615 | SRD5A3 | c.65T>C (p.Leu22Pro) | gnomAD v4 |
4 | g.55346401T>G | CA2925198 | SRD5A3 | c.65T>G (p.Leu22Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346401T= | CA1459044913 | SRD5A3 | c.65T= (p.Leu22=) | |
4 | g.55346401_55346402delinsTG | CA1459044914 | SRD5A3 | c.65_66delinsTG (p.Leu22=) | |
4 | g.55346402del | CA16618048 | SRD5A3 | c.66del (p.Thr23ProfsTer6) | ClinVar dbSNP |
4 | g.55346402G>A | CA439638176 | SRD5A3 | c.66G>A (p.Leu22=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346402G>C | CA439638174 | SRD5A3 | c.66G>C (p.Leu22=) | gnomAD v4 |
4 | g.55346402G= | CA1459044915 | SRD5A3 | c.66G= (p.Leu22=) | |
4 | g.55346402G>T | CA439638175 | SRD5A3 | c.66G>T (p.Leu22=) | gnomAD v4 |
4 | g.55346403A>C | CA356956617 | SRD5A3 | c.67A>C (p.Thr23Pro) | |
4 | g.55346403A>G | CA356956618 | SRD5A3 | c.67A>G (p.Thr23Ala) | gnomAD v4 |
4 | g.55346403A>T | CA356956619 | SRD5A3 | c.67A>T (p.Thr23Ser) | |
4 | g.55346404C>A | CA356956620 | SRD5A3 | c.68C>A (p.Thr23Asn) | |
4 | g.55346404C>G | CA356956621 | SRD5A3 | c.68C>G (p.Thr23Ser) | |
4 | g.55346404C>T | CA356956622 | SRD5A3 | c.68C>T (p.Thr23Ile) | |
4 | g.55346405C>A | CA97479130 | SRD5A3 | c.69C>A (p.Thr23=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346405C= | CA1459044916 | SRD5A3 | c.69C= (p.Thr23=) | |
4 | g.55346405C>G | CA439638178 | SRD5A3 | c.69C>G (p.Thr23=) | |
4 | g.55346405C>T | CA439638179 | SRD5A3 | c.69C>T (p.Thr23=) | gnomAD v4 |
4 | g.55346406G>A | CA356956623 | SRD5A3 | c.70G>A (p.Ala24Thr) | gnomAD v4 |
4 | g.55346406G>C | CA356956624 | SRD5A3 | c.70G>C (p.Ala24Pro) | gnomAD v4 |
4 | g.55346406G>T | CA356956625 | SRD5A3 | c.70G>T (p.Ala24Ser) | gnomAD v4 |
4 | g.55346407C>A | CA356956626 | SRD5A3 | c.71C>A (p.Ala24Asp) | |
4 | g.55346407C= | CA1459044917 | SRD5A3 | c.71C= (p.Ala24=) | |
4 | g.55346407C>G | CA356956627 | SRD5A3 | c.71C>G (p.Ala24Gly) | dbSNP gnomAD v4 |
4 | g.55346407C>T | CA356956628 | SRD5A3 | c.71C>T (p.Ala24Val) | |
4 | g.55346408C>A | CA439638184 | SRD5A3 | c.72C>A (p.Ala24=) | gnomAD v4 |
4 | g.55346408C= | CA1459044918 | SRD5A3 | c.72C= (p.Ala24=) | |
4 | g.55346408C>G | CA439638183 | SRD5A3 | c.72C>G (p.Ala24=) | |
4 | g.55346408C>T | CA97479131 | SRD5A3 | c.72C>T (p.Ala24=) | dbSNP gnomAD v4 |
4 | g.55346409G>A | CA356956630 | SRD5A3 | c.73G>A (p.Ala25Thr) | gnomAD v4 |
4 | g.55346409G>C | CA356956631 | SRD5A3 | c.73G>C (p.Ala25Pro) | |
4 | g.55346409G>T | CA356956629 | SRD5A3 | c.73G>T (p.Ala25Ser) | gnomAD v4 |
4 | g.55346410C>A | CA356956632 | SRD5A3 | c.74C>A (p.Ala25Asp) | dbSNP gnomAD v4 |
4 | g.55346410C= | CA1459044919 | SRD5A3 | c.74C= (p.Ala25=) | |
4 | g.55346410C>G | CA356956633 | SRD5A3 | c.74C>G (p.Ala25Gly) | |
4 | g.55346410C>T | CA356956634 | SRD5A3 | c.74C>T (p.Ala25Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346411C>A | CA439638186 | SRD5A3 | c.75C>A (p.Ala25=) | |
4 | g.55346411C>G | CA439638187 | SRD5A3 | c.75C>G (p.Ala25=) | |
4 | g.55346411C>T | CA439638188 | SRD5A3 | c.75C>T (p.Ala25=) | gnomAD v4 |
4 | g.55346412T>A | CA2925199 | SRD5A3 | c.76T>A (p.Phe26Ile) c.1T>A (p.Phe1Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346412T>C | CA356956635 | SRD5A3 | c.76T>C (p.Phe26Leu) c.1T>C (p.Phe1Leu) | gnomAD v4 |
4 | g.55346412T>G | CA356956636 | SRD5A3 | c.76T>G (p.Phe26Val) c.1T>G (p.Phe1Val) | |
4 | g.55346412T= | CA1459044920 | SRD5A3 | c.76T= (p.Phe26=) c.1T= (p.Phe1=) | |
4 | g.55346413T>A | CA356956637 | SRD5A3 | c.77T>A (p.Phe26Tyr) c.2T>A (p.Phe1Tyr) | |
4 | g.55346413T>C | CA356956638 | SRD5A3 | c.77T>C (p.Phe26Ser) c.2T>C (p.Phe1Ser) | gnomAD v4 |
4 | g.55346413T>G | CA356956639 | SRD5A3 | c.77T>G (p.Phe26Cys) c.2T>G (p.Phe1Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346413T= | CA1459044922 | SRD5A3 | c.77T= (p.Phe26=) c.2T= (p.Phe1=) | |
4 | g.55346413_55346414delinsTC | CA1459044921 | SRD5A3 | c.77_78delinsTC (p.Phe26=) c.2_3delinsTC (p.Phe1=) | |
4 | g.55346414C>A | CA356956640 | SRD5A3 | c.78C>A (p.Phe26Leu) c.3C>A (p.Phe1Leu) | gnomAD v4 |
4 | g.55346414C= | CA1459044924 | SRD5A3 | c.78C= (p.Phe26=) c.3C= (p.Phe1=) | |
4 | g.55346414C>G | CA356956641 | SRD5A3 | c.78C>G (p.Phe26Leu) c.3C>G (p.Phe1Leu) | |
4 | g.55346414C>T | CA439638190 | SRD5A3 | c.78C>T (p.Phe26=) c.3C>T (p.Phe1=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346415del | CA1459044923 | SRD5A3 | c.79del (p.Leu27CysfsTer2) c.4del (p.Leu2CysfsTer2) | dbSNP gnomAD v4 |
4 | g.55346415C>A | CA356956642 | SRD5A3 | c.79C>A (p.Leu27Met) c.4C>A (p.Leu2Met) | |
4 | g.55346415C= | CA1459044925 | SRD5A3 | c.79C= (p.Leu27=) c.4C= (p.Leu2=) | |
4 | g.55346415C>G | CA356956643 | SRD5A3 | c.79C>G (p.Leu27Val) c.4C>G (p.Leu2Val) | |
4 | g.55346415C>T | CA2925200 | SRD5A3 | c.79C>T (p.Leu27=) c.4C>T (p.Leu2=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346415_55346416insACT | CA2761730770 | SRD5A3 | c.79_80insACT (p.Phe26_Leu27insHis) c.4_5insACT (p.Phe1_Leu2insHis) | |
4 | g.55346416T>A | CA356956646 | SRD5A3 | c.80T>A (p.Leu27Gln) c.5T>A (p.Leu2Gln) | |
4 | g.55346416T>C | CA356956645 | SRD5A3 | c.80T>C (p.Leu27Pro) c.5T>C (p.Leu2Pro) | gnomAD v4 |
4 | g.55346416T>G | CA356956644 | SRD5A3 | c.80T>G (p.Leu27Arg) c.5T>G (p.Leu2Arg) | |
4 | g.55346417G>A | CA439638192 | SRD5A3 | c.81G>A (p.Leu27=) c.6G>A (p.Leu2=) | gnomAD v4 |
4 | g.55346417G>C | CA97479132 | SRD5A3 | c.81G>C (p.Leu27=) c.6G>C (p.Leu2=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346417G= | CA1459044926 | SRD5A3 | c.81G= (p.Leu27=) c.6G= (p.Leu2=) | |
4 | g.55346417G>T | CA439638193 | SRD5A3 | c.81G>T (p.Leu27=) c.6G>T (p.Leu2=) | gnomAD v4 |
4 | g.55346417dup | CA2761730771 | SRD5A3 | c.81dup (p.Leu28AlafsTer?) c.6dup (p.Leu3AlafsTer?) | |
4 | g.55346418C>A | CA356956647 | SRD5A3 | c.82C>A (p.Leu28Met) c.7C>A (p.Leu3Met) | gnomAD v4 |
4 | g.55346418C= | CA1459044927 | SRD5A3 | c.82C= (p.Leu28=) c.7C= (p.Leu3=) | |
4 | g.55346418C>G | CA356956648 | SRD5A3 | c.82C>G (p.Leu28Val) c.7C>G (p.Leu3Val) | gnomAD v4 |
4 | g.55346418C>T | CA439638194 | SRD5A3 | c.82C>T (p.Leu28=) c.7C>T (p.Leu3=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346419T>A | CA356956649 | SRD5A3 | c.83T>A (p.Leu28Gln) c.8T>A (p.Leu3Gln) | |
4 | g.55346419T>C | CA356956650 | SRD5A3 | c.83T>C (p.Leu28Pro) c.8T>C (p.Leu3Pro) | |
4 | g.55346419T>G | CA356956651 | SRD5A3 | c.83T>G (p.Leu28Arg) c.8T>G (p.Leu3Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346419T= | CA1459044929 | SRD5A3 | c.83T= (p.Leu28=) c.8T= (p.Leu3=) | |
4 | g.55346419_55346420delinsTG | CA1459044928 | SRD5A3 | c.83_84delinsTG (p.Leu28=) c.8_9delinsTG (p.Leu3=) | |
4 | g.55346420del | CA2925201 | SRD5A3 | c.84del (p.Thr29ProfsTer21) c.9del (p.Thr4ProfsTer21) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346420G>A | CA439638196 | SRD5A3 | c.84G>A (p.Leu28=) c.9G>A (p.Leu3=) | |
4 | g.55346420G>C | CA439638197 | SRD5A3 | c.84G>C (p.Leu28=) c.9G>C (p.Leu3=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346420G= | CA1459044930 | SRD5A3 | c.84G= (p.Leu28=) c.9G= (p.Leu3=) | |
4 | g.55346420G>T | CA439638198 | SRD5A3 | c.84G>T (p.Leu28=) c.9G>T (p.Leu3=) | gnomAD v4 |
4 | g.55346421A= | CA1459044931 | SRD5A3 | c.85A= (p.Thr29=) c.10A= (p.Thr4=) | |
4 | g.55346421A>C | CA356956652 | SRD5A3 | c.85A>C (p.Thr29Pro) c.10A>C (p.Thr4Pro) | |
4 | g.55346421A>G | CA356956653 | SRD5A3 | c.85A>G (p.Thr29Ala) c.10A>G (p.Thr4Ala) | gnomAD v4 |
4 | g.55346421A>T | CA356956654 | SRD5A3 | c.85A>T (p.Thr29Ser) c.10A>T (p.Thr4Ser) | dbSNP |
4 | g.55346422C>A | CA356956655 | SRD5A3 | c.86C>A (p.Thr29Asn) c.11C>A (p.Thr4Asn) | |
4 | g.55346422C= | CA1459044932 | SRD5A3 | c.86C= (p.Thr29=) c.11C= (p.Thr4=) | |
4 | g.55346422C>G | CA356956656 | SRD5A3 | c.86C>G (p.Thr29Ser) c.11C>G (p.Thr4Ser) | |
4 | g.55346422C>T | CA356956657 | SRD5A3 | c.86C>T (p.Thr29Ile) c.11C>T (p.Thr4Ile) | |
4 | g.55346423C>A | CA439638201 | SRD5A3 | c.87C>A (p.Thr29=) c.12C>A (p.Thr4=) | |
4 | g.55346423C= | CA1459044933 | SRD5A3 | c.87C= (p.Thr29=) c.12C= (p.Thr4=) | |
4 | g.55346423C>G | CA439638199 | SRD5A3 | c.87C>G (p.Thr29=) c.12C>G (p.Thr4=) | |
4 | g.55346423C>T | CA97479133 | SRD5A3 | c.87C>T (p.Thr29=) c.12C>T (p.Thr4=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346424_55346427dup | CA2925202 | SRD5A3 | c.88_91dup (p.Leu31ProfsTer?) c.13_16dup (p.Leu6ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346424C>A | CA356956659 | SRD5A3 | c.88C>A (p.Leu30Ile) c.13C>A (p.Leu5Ile) | gnomAD v4 |
4 | g.55346424C= | CA1459044934 | SRD5A3 | c.88C= (p.Leu30=) c.13C= (p.Leu5=) | |
4 | g.55346424C>G | CA356956658 | SRD5A3 | c.88C>G (p.Leu30Val) c.13C>G (p.Leu5Val) | |
4 | g.55346424C>T | CA97479134 | SRD5A3 | c.88C>T (p.Leu30=) c.13C>T (p.Leu5=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346425T>A | CA356956660 | SRD5A3 | c.89T>A (p.Leu30Gln) c.14T>A (p.Leu5Gln) | |
4 | g.55346425T>C | CA356956662 | SRD5A3 | c.89T>C (p.Leu30Pro) c.14T>C (p.Leu5Pro) | gnomAD v4 |
4 | g.55346425T>G | CA356956661 | SRD5A3 | c.89T>G (p.Leu30Arg) c.14T>G (p.Leu5Arg) | |
4 | g.55346426A>C | CA439638202 | SRD5A3 | c.90A>C (p.Leu30=) c.15A>C (p.Leu5=) | |
4 | g.55346426A>G | CA439638204 | SRD5A3 | c.90A>G (p.Leu30=) c.15A>G (p.Leu5=) | gnomAD v4 |
4 | g.55346426A>T | CA439638205 | SRD5A3 | c.90A>T (p.Leu30=) c.15A>T (p.Leu5=) | |
4 | g.55346427C>A | CA356956663 | SRD5A3 | c.91C>A (p.Leu31Met) c.16C>A (p.Leu6Met) | |
4 | g.55346427C= | CA1459044935 | SRD5A3 | c.91C= (p.Leu31=) c.16C= (p.Leu6=) | |
4 | g.55346427C>G | CA356956664 | SRD5A3 | c.91C>G (p.Leu31Val) c.16C>G (p.Leu6Val) | |
4 | g.55346427C>T | CA439638206 | SRD5A3 | c.91C>T (p.Leu31=) c.16C>T (p.Leu6=) | dbSNP |
4 | g.55346428T>A | CA356956665 | SRD5A3 | c.92T>A (p.Leu31Gln) c.17T>A (p.Leu6Gln) | |
4 | g.55346428T>C | CA356956666 | SRD5A3 | c.92T>C (p.Leu31Pro) c.17T>C (p.Leu6Pro) | |
4 | g.55346428T>G | CA356956667 | SRD5A3 | c.92T>G (p.Leu31Arg) c.17T>G (p.Leu6Arg) | |
4 | g.55346428_55346429dup | CA2925203 | SRD5A3 | c.92_93dup (p.Leu32CysfsTer19) c.17_18dup (p.Leu7CysfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346429G>A | CA439638208 | SRD5A3 | c.93G>A (p.Leu31=) c.18G>A (p.Leu6=) | gnomAD v4 |
4 | g.55346429G>C | CA439638210 | SRD5A3 | c.93G>C (p.Leu31=) c.18G>C (p.Leu6=) | |
4 | g.55346429G>T | CA439638211 | SRD5A3 | c.93G>T (p.Leu31=) c.18G>T (p.Leu6=) | |
4 | g.55346430C>A | CA356956669 | SRD5A3 | c.94C>A (p.Leu32Met) c.19C>A (p.Leu7Met) | |
4 | g.55346430C= | CA1459044936 | SRD5A3 | c.94C= (p.Leu32=) c.19C= (p.Leu7=) | |
4 | g.55346430C>G | CA356956668 | SRD5A3 | c.94C>G (p.Leu32Val) c.19C>G (p.Leu7Val) | |
4 | g.55346430C>T | CA439638212 | SRD5A3 | c.94C>T (p.Leu32=) c.19C>T (p.Leu7=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346431T>A | CA356956670 | SRD5A3 | c.95T>A (p.Leu32Gln) c.20T>A (p.Leu7Gln) | |
4 | g.55346431T>C | CA356956671 | SRD5A3 | c.95T>C (p.Leu32Pro) c.20T>C (p.Leu7Pro) | gnomAD v4 |
4 | g.55346431T>G | CA2925204 | SRD5A3 | c.95T>G (p.Leu32Arg) c.20T>G (p.Leu7Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346431T= | CA1459044937 | SRD5A3 | c.95T= (p.Leu32=) c.20T= (p.Leu7=) | |
4 | g.55346432G>A | CA439638215 | SRD5A3 | c.96G>A (p.Leu32=) c.21G>A (p.Leu7=) | gnomAD v4 |
4 | g.55346432G>C | CA439638213 | SRD5A3 | c.96G>C (p.Leu32=) c.21G>C (p.Leu7=) | |
4 | g.55346432G>T | CA439638214 | SRD5A3 | c.96G>T (p.Leu32=) c.21G>T (p.Leu7=) | |
4 | g.55346433C>A | CA356956672 | SRD5A3 | c.97C>A (p.Gln33Lys) c.22C>A (p.Gln8Lys) | gnomAD v4 |
4 | g.55346433C>G | CA356956673 | SRD5A3 | c.97C>G (p.Gln33Glu) c.22C>G (p.Gln8Glu) | |
4 | g.55346433C>T | CA356956674 | SRD5A3 | c.97C>T (p.Gln33Ter) c.22C>T (p.Gln8Ter) | |
4 | g.55346434A= | CA1459044938 | SRD5A3 | c.98A= (p.Gln33=) c.23A= (p.Gln8=) | |
4 | g.55346434A>C | CA356956676 | SRD5A3 | c.98A>C (p.Gln33Pro) c.23A>C (p.Gln8Pro) | |
4 | g.55346434A>G | CA356956675 | SRD5A3 | c.98A>G (p.Gln33Arg) c.23A>G (p.Gln8Arg) | |
4 | g.55346434A>T | CA97479135 | SRD5A3 | c.98A>T (p.Gln33Leu) c.23A>T (p.Gln8Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346435G>A | CA439638220 | SRD5A3 | c.99G>A (p.Gln33=) c.24G>A (p.Gln8=) | |
4 | g.55346435G>C | CA356956677 | SRD5A3 | c.99G>C (p.Gln33His) c.24G>C (p.Gln8His) | |
4 | g.55346435G>T | CA356956678 | SRD5A3 | c.99G>T (p.Gln33His) c.24G>T (p.Gln8His) | |
4 | g.55346436C>A | CA356956679 | SRD5A3 | c.100C>A (p.Leu34Ile) c.25C>A (p.Leu9Ile) | gnomAD v4 |
4 | g.55346436C= | CA1459044939 | SRD5A3 | c.100C= (p.Leu34=) c.25C= (p.Leu9=) | |
4 | g.55346436C>G | CA2925205 | SRD5A3 | c.100C>G (p.Leu34Val) c.25C>G (p.Leu9Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346436C>T | CA356956680 | SRD5A3 | c.100C>T (p.Leu34Phe) c.25C>T (p.Leu9Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346437T>A | CA356956681 | SRD5A3 | c.101T>A (p.Leu34His) c.26T>A (p.Leu9His) | |
4 | g.55346437T>C | CA356956682 | SRD5A3 | c.101T>C (p.Leu34Pro) c.26T>C (p.Leu9Pro) | gnomAD v4 |
4 | g.55346437T>G | CA356956683 | SRD5A3 | c.101T>G (p.Leu34Arg) c.26T>G (p.Leu9Arg) | |
4 | g.55346438C>A | CA439638225 | SRD5A3 | c.102C>A (p.Leu34=) c.27C>A (p.Leu9=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346438C= | CA1459044940 | SRD5A3 | c.102C= (p.Leu34=) c.27C= (p.Leu9=) | |
4 | g.55346438C>G | CA439638227 | SRD5A3 | c.102C>G (p.Leu34=) c.27C>G (p.Leu9=) | gnomAD v4 |
4 | g.55346438C>T | CA439638229 | SRD5A3 | c.102C>T (p.Leu34=) c.27C>T (p.Leu9=) | gnomAD v4 |
4 | g.55346439C>A | CA356956684 | SRD5A3 | c.103C>A (p.Leu35Met) c.28C>A (p.Leu10Met) | |
4 | g.55346439C>G | CA356956685 | SRD5A3 | c.103C>G (p.Leu35Val) c.28C>G (p.Leu10Val) | |
4 | g.55346439C>T | CA439638230 | SRD5A3 | c.103C>T (p.Leu35=) c.28C>T (p.Leu10=) | |
4 | g.55346440T>A | CA356956686 | SRD5A3 | c.104T>A (p.Leu35Gln) c.29T>A (p.Leu10Gln) | |
4 | g.55346440T>C | CA356956687 | SRD5A3 | c.104T>C (p.Leu35Pro) c.29T>C (p.Leu10Pro) | gnomAD v4 |
4 | g.55346440T>G | CA356956688 | SRD5A3 | c.104T>G (p.Leu35Arg) c.29T>G (p.Leu10Arg) | |
4 | g.55346441G>A | CA439638235 | SRD5A3 | c.105G>A (p.Leu35=) c.30G>A (p.Leu10=) | gnomAD v4 |
4 | g.55346441G>C | CA439638236 | SRD5A3 | c.105G>C (p.Leu35=) c.30G>C (p.Leu10=) | |
4 | g.55346441G>T | CA439638237 | SRD5A3 | c.105G>T (p.Leu35=) c.30G>T (p.Leu10=) | gnomAD v4 |
4 | g.55346442C>A | CA356956689 | SRD5A3 | c.106C>A (p.Pro36Thr) c.31C>A (p.Pro11Thr) | |
4 | g.55346442C>G | CA356956691 | SRD5A3 | c.106C>G (p.Pro36Ala) c.31C>G (p.Pro11Ala) | |
4 | g.55346442C>T | CA356956690 | SRD5A3 | c.106C>T (p.Pro36Ser) c.31C>T (p.Pro11Ser) | gnomAD v4 |
4 | g.55346443C>A | CA356956692 | SRD5A3 | c.107C>A (p.Pro36Gln) c.32C>A (p.Pro11Gln) | |
4 | g.55346443C>G | CA356956693 | SRD5A3 | c.107C>G (p.Pro36Arg) c.32C>G (p.Pro11Arg) | |
4 | g.55346443C>T | CA356956694 | SRD5A3 | c.107C>T (p.Pro36Leu) c.32C>T (p.Pro11Leu) | |
4 | g.55346444G>A | CA439638241 | SRD5A3 | c.108G>A (p.Pro36=) c.33G>A (p.Pro11=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346444G>C | CA439638242 | SRD5A3 | c.108G>C (p.Pro36=) c.33G>C (p.Pro11=) | |
4 | g.55346444G= | CA1459044941 | SRD5A3 | c.108G= (p.Pro36=) c.33G= (p.Pro11=) | |
4 | g.55346444G>T | CA2925206 | SRD5A3 | c.108G>T (p.Pro36=) c.33G>T (p.Pro11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346445C>A | CA356956697 | SRD5A3 | c.109C>A (p.Pro37Thr) c.34C>A (p.Pro12Thr) | gnomAD v4 |
4 | g.55346445C>G | CA356956696 | SRD5A3 | c.109C>G (p.Pro37Ala) c.34C>G (p.Pro12Ala) | |
4 | g.55346445C>T | CA356956695 | SRD5A3 | c.109C>T (p.Pro37Ser) c.34C>T (p.Pro12Ser) | |
4 | g.55346447dup | CA2925207 | SRD5A3 | c.111dup (p.Gly38ArgfsTer?) c.36dup (p.Gly13ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346450_55346460del | CA2670663162 | SRD5A3 | c.114_124del (p.Leu40ArgfsTer27) c.39_49del (p.Leu15ArgfsTer27) | gnomAD v4 |
4 | g.55346446C>A | CA356956698 | SRD5A3 | c.110C>A (p.Pro37His) c.35C>A (p.Pro12His) | |
4 | g.55346446C= | CA1459044942 | SRD5A3 | c.110C= (p.Pro37=) c.35C= (p.Pro12=) | |
4 | g.55346446C>G | CA356956699 | SRD5A3 | c.110C>G (p.Pro37Arg) c.35C>G (p.Pro12Arg) | gnomAD v4 |
4 | g.55346446C>T | CA2925208 | SRD5A3 | c.110C>T (p.Pro37Leu) c.35C>T (p.Pro12Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346447C>A | CA439638247 | SRD5A3 | c.111C>A (p.Pro37=) c.36C>A (p.Pro12=) | gnomAD v4 |
4 | g.55346447C>G | CA439638248 | SRD5A3 | c.111C>G (p.Pro37=) c.36C>G (p.Pro12=) | |
4 | g.55346447C>T | CA439638249 | SRD5A3 | c.111C>T (p.Pro37=) c.36C>T (p.Pro12=) | gnomAD v4 |
4 | g.55346448G>A | CA356956700 | SRD5A3 | c.112G>A (p.Gly38Ser) c.37G>A (p.Gly13Ser) | ClinVar gnomAD v4 |
4 | g.55346448G>C | CA356956701 | SRD5A3 | c.112G>C (p.Gly38Arg) c.37G>C (p.Gly13Arg) | dbSNP |
4 | g.55346448G= | CA1459044943 | SRD5A3 | c.112G= (p.Gly38=) c.37G= (p.Gly13=) | |
4 | g.55346448G>T | CA356956702 | SRD5A3 | c.112G>T (p.Gly38Cys) c.37G>T (p.Gly13Cys) | |
4 | g.55346449G>A | CA356956703 | SRD5A3 | c.113G>A (p.Gly38Asp) c.38G>A (p.Gly13Asp) | gnomAD v4 |
4 | g.55346449G>C | CA356956705 | SRD5A3 | c.113G>C (p.Gly38Ala) c.38G>C (p.Gly13Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346449G= | CA1459044944 | SRD5A3 | c.113G= (p.Gly38=) c.38G= (p.Gly13=) | |
4 | g.55346449G>T | CA356956704 | SRD5A3 | c.113G>T (p.Gly38Val) c.38G>T (p.Gly13Val) | |
4 | g.55346450C>A | CA439638251 | SRD5A3 | c.114C>A (p.Gly38=) c.39C>A (p.Gly13=) | |
4 | g.55346450C= | CA1459044945 | SRD5A3 | c.114C= (p.Gly38=) c.39C= (p.Gly13=) | |
4 | g.55346450C>G | CA439638252 | SRD5A3 | c.114C>G (p.Gly38=) c.39C>G (p.Gly13=) | |
4 | g.55346450C>T | CA439638253 | SRD5A3 | c.114C>T (p.Gly38=) c.39C>T (p.Gly13=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346451C>A | CA356956706 | SRD5A3 | c.115C>A (p.Leu39Met) c.40C>A (p.Leu14Met) | |
4 | g.55346451C= | CA1459044946 | SRD5A3 | c.115C= (p.Leu39=) c.40C= (p.Leu14=) | |
4 | g.55346451C>G | CA2925209 | SRD5A3 | c.115C>G (p.Leu39Val) c.40C>G (p.Leu14Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55346451C>T | CA439638257 | SRD5A3 | c.115C>T (p.Leu39=) c.40C>T (p.Leu14=) | |
4 | g.55346452T>A | CA356956707 | SRD5A3 | c.116T>A (p.Leu39Gln) c.41T>A (p.Leu14Gln) | |
4 | g.55346452T>C | CA356956708 | SRD5A3 | c.116T>C (p.Leu39Pro) c.41T>C (p.Leu14Pro) | gnomAD v4 |
4 | g.55346452T>G | CA356956709 | SRD5A3 | c.116T>G (p.Leu39Arg) c.41T>G (p.Leu14Arg) | gnomAD v4 |
4 | g.55346453del | CA2670663202 | SRD5A3 | c.117del (p.Leu40SerfsTer10) c.42del (p.Leu15SerfsTer10) | gnomAD v4 |
4 | g.55346453G>A | CA439638260 | SRD5A3 | c.117G>A (p.Leu39=) c.42G>A (p.Leu14=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346453G>C | CA439638261 | SRD5A3 | c.117G>C (p.Leu39=) c.42G>C (p.Leu14=) | |
4 | g.55346453G= | CA1459044947 | SRD5A3 | c.117G= (p.Leu39=) c.42G= (p.Leu14=) | |
4 | g.55346453G>T | CA439638262 | SRD5A3 | c.117G>T (p.Leu39=) c.42G>T (p.Leu14=) | |
4 | g.55346454C>A | CA356956710 | SRD5A3 | c.118C>A (p.Leu40Ile) c.43C>A (p.Leu15Ile) | |
4 | g.55346454C>G | CA356956711 | SRD5A3 | c.118C>G (p.Leu40Val) c.43C>G (p.Leu15Val) | |
4 | g.55346454C>T | CA356956712 | SRD5A3 | c.118C>T (p.Leu40Phe) c.43C>T (p.Leu15Phe) | gnomAD v4 |
4 | g.55346455T>A | CA356956713 | SRD5A3 | c.119T>A (p.Leu40His) c.44T>A (p.Leu15His) | gnomAD v4 |
4 | g.55346455T>C | CA356956714 | SRD5A3 | c.119T>C (p.Leu40Pro) c.44T>C (p.Leu15Pro) | gnomAD v4 |
4 | g.55346455T>G | CA356956715 | SRD5A3 | c.119T>G (p.Leu40Arg) c.44T>G (p.Leu15Arg) | |
4 | g.55346456C>A | CA439638265 | SRD5A3 | c.120C>A (p.Leu40=) c.45C>A (p.Leu15=) | |
4 | g.55346456C= | CA1459044948 | SRD5A3 | c.120C= (p.Leu40=) c.45C= (p.Leu15=) | |
4 | g.55346456C>G | CA2925210 | SRD5A3 | c.120C>G (p.Leu40=) c.45C>G (p.Leu15=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346456C>T | CA97479136 | SRD5A3 | c.120C>T (p.Leu40=) c.45C>T (p.Leu15=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55346458del | CA2670663239 | SRD5A3 | c.122del (p.Pro41ArgfsTer9) c.47del (p.Pro16ArgfsTer9) | gnomAD v4 |
4 | g.55346457C>A | CA356956717 | SRD5A3 | c.121C>A (p.Pro41Thr) c.46C>A (p.Pro16Thr) | gnomAD v4 |
4 | g.55346457C>G | CA356956716 | SRD5A3 | c.121C>G (p.Pro41Ala) c.46C>G (p.Pro16Ala) | |
4 | g.55346457C>T | CA356956718 | SRD5A3 | c.121C>T (p.Pro41Ser) c.46C>T (p.Pro16Ser) | gnomAD v4 |
4 | g.55346458C>A | CA356956719 | SRD5A3 | c.122C>A (p.Pro41Gln) c.47C>A (p.Pro16Gln) | |
4 | g.55346458C= | CA1459044949 | SRD5A3 | c.122C= (p.Pro41=) c.47C= (p.Pro16=) | |
4 | g.55346458C>G | CA356956720 | SRD5A3 | c.122C>G (p.Pro41Arg) c.47C>G (p.Pro16Arg) | gnomAD v4 |
4 | g.55346458C>T | CA356956721 | SRD5A3 | c.122C>T (p.Pro41Leu) c.47C>T (p.Pro16Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346459G>A | CA2925211 | SRD5A3 | c.123G>A (p.Pro41=) c.48G>A (p.Pro16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346459G>C | CA439638274 | SRD5A3 | c.123G>C (p.Pro41=) c.48G>C (p.Pro16=) | gnomAD v4 |
4 | g.55346459G= | CA1459044950 | SRD5A3 | c.123G= (p.Pro41=) c.48G= (p.Pro16=) | |
4 | g.55346459G>T | CA439638273 | SRD5A3 | c.123G>T (p.Pro41=) c.48G>T (p.Pro16=) | |
4 | g.55346460G>A | CA2925212 | SRD5A3 | c.124G>A (p.Gly42Ser) c.49G>A (p.Gly17Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55346460G>C | CA356956722 | SRD5A3 | c.124G>C (p.Gly42Arg) c.49G>C (p.Gly17Arg) | |
4 | g.55346460G= | CA1459044951 | SRD5A3 | c.124G= (p.Gly42=) c.49G= (p.Gly17=) | |
4 | g.55346460G>T | CA356956723 | SRD5A3 | c.124G>T (p.Gly42Cys) c.49G>T (p.Gly17Cys) | gnomAD v4 |
4 | g.55346461G>A | CA356956724 | SRD5A3 | c.125G>A (p.Gly42Asp) c.50G>A (p.Gly17Asp) | gnomAD v4 |
4 | g.55346461G>C | CA356956726 | SRD5A3 | c.125G>C (p.Gly42Ala) c.50G>C (p.Gly17Ala) | |
4 | g.55346461G= | CA1459044952 | SRD5A3 | c.125G= (p.Gly42=) c.50G= (p.Gly17=) | |
4 | g.55346461G>T | CA356956725 | SRD5A3 | c.125G>T (p.Gly42Val) c.50G>T (p.Gly17Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346462C>A | CA439638279 | SRD5A3 | c.126C>A (p.Gly42=) c.51C>A (p.Gly17=) | |
4 | g.55346462C= | CA1459044953 | SRD5A3 | c.126C= (p.Gly42=) c.51C= (p.Gly17=) | |
4 | g.55346462C>G | CA97479137 | SRD5A3 | c.126C>G (p.Gly42=) c.51C>G (p.Gly17=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346462C>T | CA2925213 | SRD5A3 | c.126C>T (p.Gly42=) c.51C>T (p.Gly17=) | dbSNP ExAC gnomAD v2 |
4 | g.55346463T>A | CA356956727 | SRD5A3 | c.127T>A (p.Cys43Ser) c.52T>A (p.Cys18Ser) | |
4 | g.55346463T>C | CA356956728 | SRD5A3 | c.127T>C (p.Cys43Arg) c.52T>C (p.Cys18Arg) | |
4 | g.55346463T>G | CA356956729 | SRD5A3 | c.127T>G (p.Cys43Gly) c.52T>G (p.Cys18Gly) | |
4 | g.55346463T= | CA1459044954 | SRD5A3 | c.127T= (p.Cys43=) c.52T= (p.Cys18=) | |
4 | g.55346464G>A | CA356956730 | SRD5A3 | c.128G>A (p.Cys43Tyr) c.53G>A (p.Cys18Tyr) | |
4 | g.55346464G>C | CA356956732 | SRD5A3 | c.128G>C (p.Cys43Ser) c.53G>C (p.Cys18Ser) | |
4 | g.55346464G>T | CA356956731 | SRD5A3 | c.128G>T (p.Cys43Phe) c.53G>T (p.Cys18Phe) | gnomAD v4 |
4 | g.55346465_55346468dup | CA551653618 | SRD5A3 | c.129_132dup (p.Ile45ArgfsTer27) c.54_57dup (p.Ile20ArgfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55346465C>A | CA356956733 | SRD5A3 | c.129C>A (p.Cys43Ter) c.54C>A (p.Cys18Ter) | |
4 | g.55346465C>G | CA356956734 | SRD5A3 | c.129C>G (p.Cys43Trp) c.54C>G (p.Cys18Trp) | |
4 | g.55346465C>T | CA439638284 | SRD5A3 | c.129C>T (p.Cys43=) c.54C>T (p.Cys18=) | gnomAD v4 |