Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |