Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31529323C>A | CA346597877 | SRD5A2 | c.682G>T (p.Ala228Ser) c.460G>T (p.Ala154Ser) c.427G>T (p.Ala143Ser) | |
2 | g.31529323C= | CA1242197372 | SRD5A2 | c.682G= (p.Ala228=) c.460G= (p.Ala154=) c.427G= (p.Ala143=) | |
2 | g.31529323C>G | CA1599869 | SRD5A2 | c.682G>C (p.Ala228Pro) c.460G>C (p.Ala154Pro) c.427G>C (p.Ala143Pro) | dbSNP ExAC gnomAD v2 |
2 | g.31529323C>T | CA340077 | SRD5A2 | c.682G>A (p.Ala228Thr) c.460G>A (p.Ala154Thr) c.427G>A (p.Ala143Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.31529324T>A | CA425567402 | SRD5A2 | c.681A>T (p.Arg227=) c.459A>T (p.Arg153=) c.426A>T (p.Arg142=) | |
2 | g.31529324T>C | CA425567401 | SRD5A2 | c.681A>G (p.Arg227=) c.459A>G (p.Arg153=) c.426A>G (p.Arg142=) | gnomAD v4 |
2 | g.31529324T>G | CA425567400 | SRD5A2 | c.681A>C (p.Arg227=) c.459A>C (p.Arg153=) c.426A>C (p.Arg142=) | |
2 | g.31529324T= | CA2497028759 | SRD5A2 | c.681A= (p.Arg227=) c.459A= (p.Arg153=) c.426A= (p.Arg142=) | |
2 | g.31529325C>A | CA346597878 | SRD5A2 | c.680G>T (p.Arg227Leu) c.458G>T (p.Arg153Leu) c.425G>T (p.Arg142Leu) | |
2 | g.31529325C= | CA1242197373 | SRD5A2 | c.680G= (p.Arg227=) c.458G= (p.Arg153=) c.425G= (p.Arg142=) | |
2 | g.31529325C>G | CA346597879 | SRD5A2 | c.680G>C (p.Arg227Pro) c.458G>C (p.Arg153Pro) c.425G>C (p.Arg142Pro) | |
2 | g.31529325C>T | CA116158 | SRD5A2 | c.680G>A (p.Arg227Gln) c.458G>A (p.Arg153Gln) c.425G>A (p.Arg142Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529326G>A | CA340074 | SRD5A2 | c.679C>T (p.Arg227Ter) c.457C>T (p.Arg153Ter) c.424C>T (p.Arg142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31529326G>C | CA346597880 | SRD5A2 | c.679C>G (p.Arg227Gly) c.457C>G (p.Arg153Gly) c.424C>G (p.Arg142Gly) | gnomAD v4 |
2 | g.31529326G= | CA1242197374 | SRD5A2 | c.679C= (p.Arg227=) c.457C= (p.Arg153=) c.424C= (p.Arg142=) | |
2 | g.31529326G>T | CA425567403 | SRD5A2 | c.679C>A (p.Arg227=) c.457C>A (p.Arg153=) c.424C>A (p.Arg142=) | |
2 | g.31529327C>A | CA425567406 | SRD5A2 | c.678G>T (p.Leu226=) c.456G>T (p.Leu152=) c.423G>T (p.Leu141=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529327C= | CA1242197375 | SRD5A2 | c.678G= (p.Leu226=) c.456G= (p.Leu152=) c.423G= (p.Leu141=) | |
2 | g.31529327C>G | CA425567405 | SRD5A2 | c.678G>C (p.Leu226=) c.456G>C (p.Leu152=) c.423G>C (p.Leu141=) | |
2 | g.31529327C>T | CA425567404 | SRD5A2 | c.678G>A (p.Leu226=) c.456G>A (p.Leu152=) c.423G>A (p.Leu141=) | |
2 | g.31529328A= | CA1242197376 | SRD5A2 | c.677T= (p.Leu226=) c.455T= (p.Leu152=) c.422T= (p.Leu141=) | |
2 | g.31529328A>C | CA346597881 | SRD5A2 | c.677T>G (p.Leu226Arg) c.455T>G (p.Leu152Arg) c.422T>G (p.Leu141Arg) | |
2 | g.31529328A>G | CA346597882 | SRD5A2 | c.677T>C (p.Leu226Pro) c.455T>C (p.Leu152Pro) c.422T>C (p.Leu141Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529328A>T | CA346597883 | SRD5A2 | c.677T>A (p.Leu226Gln) c.455T>A (p.Leu152Gln) c.422T>A (p.Leu141Gln) | |
2 | g.31529329G>A | CA425567407 | SRD5A2 | c.676C>T (p.Leu226=) c.454C>T (p.Leu152=) c.421C>T (p.Leu141=) | COSMIC |
2 | g.31529329G>C | CA346597884 | SRD5A2 | c.676C>G (p.Leu226Val) c.454C>G (p.Leu152Val) c.421C>G (p.Leu141Val) | |
2 | g.31529329G>T | CA346597885 | SRD5A2 | c.676C>A (p.Leu226Met) c.454C>A (p.Leu152Met) c.421C>A (p.Leu141Met) | |
2 | g.31529330C>A | CA425567408 | SRD5A2 | c.675G>T (p.Gly225=) c.453G>T (p.Gly151=) c.420G>T (p.Gly140=) | |
2 | g.31529330C>G | CA425567410 | SRD5A2 | c.675G>C (p.Gly225=) c.453G>C (p.Gly151=) c.420G>C (p.Gly140=) | |
2 | g.31529330C>T | CA425567409 | SRD5A2 | c.675G>A (p.Gly225=) c.453G>A (p.Gly151=) c.420G>A (p.Gly140=) | gnomAD v4 |
2 | g.31529331C>A | CA346597886 | SRD5A2 | c.674G>T (p.Gly225Val) c.452G>T (p.Gly151Val) c.419G>T (p.Gly140Val) | |
2 | g.31529331C>G | CA346597887 | SRD5A2 | c.674G>C (p.Gly225Ala) c.452G>C (p.Gly151Ala) c.419G>C (p.Gly140Ala) | |
2 | g.31529331C>T | CA346597888 | SRD5A2 | c.674G>A (p.Gly225Glu) c.452G>A (p.Gly151Glu) c.419G>A (p.Gly140Glu) | |
2 | g.31529332C>A | CA346597889 | SRD5A2 | c.673G>T (p.Gly225Trp) c.451G>T (p.Gly151Trp) c.418G>T (p.Gly140Trp) | |
2 | g.31529332C>G | CA346597890 | SRD5A2 | c.673G>C (p.Gly225Arg) c.451G>C (p.Gly151Arg) c.418G>C (p.Gly140Arg) | |
2 | g.31529332C>T | CA346597891 | SRD5A2 | c.673G>A (p.Gly225Arg) c.451G>A (p.Gly151Arg) c.418G>A (p.Gly140Arg) | |
2 | g.31529333A>C | CA425567411 | SRD5A2 | c.672T>G (p.Leu224=) c.450T>G (p.Leu150=) c.417T>G (p.Leu139=) | |
2 | g.31529333A>G | CA425567412 | SRD5A2 | c.672T>C (p.Leu224=) c.450T>C (p.Leu150=) c.417T>C (p.Leu139=) | dbSNP |
2 | g.31529333A>T | CA425567413 | SRD5A2 | c.672T>A (p.Leu224=) c.450T>A (p.Leu150=) c.417T>A (p.Leu139=) | |
2 | g.31529334A= | CA1242197377 | SRD5A2 | c.671T= (p.Leu224=) c.449T= (p.Leu150=) c.416T= (p.Leu139=) | |
2 | g.31529334A>C | CA346597892 | SRD5A2 | c.671T>G (p.Leu224Arg) c.449T>G (p.Leu150Arg) c.416T>G (p.Leu139Arg) | |
2 | g.31529334A>G | CA346597893 | SRD5A2 | c.671T>C (p.Leu224Pro) c.449T>C (p.Leu150Pro) c.416T>C (p.Leu139Pro) | |
2 | g.31529334A>T | CA45136310 | SRD5A2 | c.671T>A (p.Leu224His) c.449T>A (p.Leu150His) c.416T>A (p.Leu139His) | dbSNP |
2 | g.31529335G>A | CA346597894 | SRD5A2 | c.670C>T (p.Leu224Phe) c.448C>T (p.Leu150Phe) c.415C>T (p.Leu139Phe) | |
2 | g.31529335G>C | CA1599870 | SRD5A2 | c.670C>G (p.Leu224Val) c.448C>G (p.Leu150Val) c.415C>G (p.Leu139Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529335G= | CA1242197378 | SRD5A2 | c.670C= (p.Leu224=) c.448C= (p.Leu150=) c.415C= (p.Leu139=) | |
2 | g.31529335G>T | CA45136311 | SRD5A2 | c.670C>A (p.Leu224Ile) c.448C>A (p.Leu150Ile) c.415C>A (p.Leu139Ile) | dbSNP gnomAD v4 |
2 | g.31529336G>A | CA425567414 | SRD5A2 | c.669C>T (p.Phe223=) c.447C>T (p.Phe149=) c.414C>T (p.Phe138=) | COSMIC COSMIC COSMIC |
2 | g.31529336G>C | CA346597895 | SRD5A2 | c.669C>G (p.Phe223Leu) c.447C>G (p.Phe149Leu) c.414C>G (p.Phe138Leu) | ClinVar |
2 | g.31529336G>T | CA346597896 | SRD5A2 | c.669C>A (p.Phe223Leu) c.447C>A (p.Phe149Leu) c.414C>A (p.Phe138Leu) | gnomAD v4 |