Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31533616T>A | CA425568206 | SRD5A2 | c.432A>T (p.Ile144=) c.210A>T (p.Ile70=) c.177A>T (p.Ile59=) | |
2 | g.31533616T>C | CA346598428 | SRD5A2 | c.432A>G (p.Ile144Met) c.210A>G (p.Ile70Met) c.177A>G (p.Ile59Met) | |
2 | g.31533616T>G | CA425568208 | SRD5A2 | c.432A>C (p.Ile144=) c.210A>C (p.Ile70=) c.177A>C (p.Ile59=) | |
2 | g.31533617A>C | CA346598429 | SRD5A2 | c.431T>G (p.Ile144Arg) c.209T>G (p.Ile70Arg) c.176T>G (p.Ile59Arg) | |
2 | g.31533617A>G | CA346598430 | SRD5A2 | c.431T>C (p.Ile144Thr) c.209T>C (p.Ile70Thr) c.176T>C (p.Ile59Thr) | |
2 | g.31533617A>T | CA346598431 | SRD5A2 | c.431T>A (p.Ile144Lys) c.209T>A (p.Ile70Lys) c.176T>A (p.Ile59Lys) | |
2 | g.31533617dup | CA2576929420 | SRD5A2 | c.431dup (p.Arg145ThrfsTer3) c.209dup (p.Arg71ThrfsTer3) c.176dup (p.Arg60ThrfsTer3) | ClinVar |
2 | g.31533618T>A | CA346598432 | SRD5A2 | c.430A>T (p.Ile144Leu) c.208A>T (p.Ile70Leu) c.175A>T (p.Ile59Leu) | gnomAD v4 |
2 | g.31533618T>C | CA346598434 | SRD5A2 | c.430A>G (p.Ile144Val) c.208A>G (p.Ile70Val) c.175A>G (p.Ile59Val) | gnomAD v4 |
2 | g.31533618T>G | CA346598433 | SRD5A2 | c.430A>C (p.Ile144Leu) c.208A>C (p.Ile70Leu) c.175A>C (p.Ile59Leu) | |
2 | g.31533619G>A | CA425568215 | SRD5A2 | c.429C>T (p.Asp143=) c.207C>T (p.Asp69=) c.174C>T (p.Asp58=) | |
2 | g.31533619G>C | CA346598435 | SRD5A2 | c.429C>G (p.Asp143Glu) c.207C>G (p.Asp69Glu) c.174C>G (p.Asp58Glu) | |
2 | g.31533619G>T | CA346598436 | SRD5A2 | c.429C>A (p.Asp143Glu) c.207C>A (p.Asp69Glu) c.174C>A (p.Asp58Glu) | |
2 | g.31533620T>A | CA1599944 | SRD5A2 | c.428A>T (p.Asp143Val) c.206A>T (p.Asp69Val) c.173A>T (p.Asp58Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533620T>C | CA346598437 | SRD5A2 | c.428A>G (p.Asp143Gly) c.206A>G (p.Asp69Gly) c.173A>G (p.Asp58Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533620T>G | CA346598438 | SRD5A2 | c.428A>C (p.Asp143Ala) c.206A>C (p.Asp69Ala) c.173A>C (p.Asp58Ala) | |
2 | g.31533620T= | CA1242199313 | SRD5A2 | c.428A= (p.Asp143=) c.206A= (p.Asp69=) c.173A= (p.Asp58=) | |
2 | g.31533621C>A | CA346598439 | SRD5A2 | c.427G>T (p.Asp143Tyr) c.205G>T (p.Asp69Tyr) c.172G>T (p.Asp58Tyr) | |
2 | g.31533621C= | CA1242199314 | SRD5A2 | c.427G= (p.Asp143=) c.205G= (p.Asp69=) c.172G= (p.Asp58=) | |
2 | g.31533621C>G | CA346598440 | SRD5A2 | c.427G>C (p.Asp143His) c.205G>C (p.Asp69His) c.172G>C (p.Asp58His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533621C>T | CA346598441 | SRD5A2 | c.427G>A (p.Asp143Asn) c.205G>A (p.Asp69Asn) c.172G>A (p.Asp58Asn) | |
2 | g.31533622T>A | CA425568220 | SRD5A2 | c.426A>T (p.Thr142=) c.204A>T (p.Thr68=) c.171A>T (p.Thr57=) | |
2 | g.31533622T>C | CA425568221 | SRD5A2 | c.426A>G (p.Thr142=) c.204A>G (p.Thr68=) c.171A>G (p.Thr57=) | |
2 | g.31533622T>G | CA425568222 | SRD5A2 | c.426A>C (p.Thr142=) c.204A>C (p.Thr68=) c.171A>C (p.Thr57=) | |
2 | g.31533623G>A | CA1599945 | SRD5A2 | c.425C>T (p.Thr142Ile) c.203C>T (p.Thr68Ile) c.170C>T (p.Thr57Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533623G>C | CA45136777 | SRD5A2 | c.425C>G (p.Thr142Arg) c.203C>G (p.Thr68Arg) c.170C>G (p.Thr57Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533623G= | CA1242199315 | SRD5A2 | c.425C= (p.Thr142=) c.203C= (p.Thr68=) c.170C= (p.Thr57=) | |
2 | g.31533623G>T | CA346598442 | SRD5A2 | c.425C>A (p.Thr142Lys) c.203C>A (p.Thr68Lys) c.170C>A (p.Thr57Lys) | |
2 | g.31533624T>A | CA346598443 | SRD5A2 | c.424A>T (p.Thr142Ser) c.202A>T (p.Thr68Ser) c.169A>T (p.Thr57Ser) | |
2 | g.31533624T>C | CA346598445 | SRD5A2 | c.424A>G (p.Thr142Ala) c.202A>G (p.Thr68Ala) c.169A>G (p.Thr57Ala) | |
2 | g.31533624T>G | CA346598444 | SRD5A2 | c.424A>C (p.Thr142Pro) c.202A>C (p.Thr68Pro) c.169A>C (p.Thr57Pro) | |
2 | g.31533625G>A | CA425568227 | SRD5A2 | c.423C>T (p.Tyr141=) c.201C>T (p.Tyr67=) c.168C>T (p.Tyr56=) | gnomAD v4 |
2 | g.31533625G>C | CA346598446 | SRD5A2 | c.423C>G (p.Tyr141Ter) c.201C>G (p.Tyr67Ter) c.168C>G (p.Tyr56Ter) | |
2 | g.31533625G>T | CA346598447 | SRD5A2 | c.423C>A (p.Tyr141Ter) c.201C>A (p.Tyr67Ter) c.168C>A (p.Tyr56Ter) | gnomAD v4 |
2 | g.31533626T>A | CA346598448 | SRD5A2 | c.422A>T (p.Tyr141Phe) c.200A>T (p.Tyr67Phe) c.167A>T (p.Tyr56Phe) | |
2 | g.31533626T>C | CA346598449 | SRD5A2 | c.422A>G (p.Tyr141Cys) c.200A>G (p.Tyr67Cys) c.167A>G (p.Tyr56Cys) | |
2 | g.31533626T>G | CA346598450 | SRD5A2 | c.422A>C (p.Tyr141Ser) c.200A>C (p.Tyr67Ser) c.167A>C (p.Tyr56Ser) | |
2 | g.31533626_31533627insG | CA2658499157 | SRD5A2 | c.421_422insC (p.Tyr141SerfsTer7) c.199_200insC (p.Tyr67SerfsTer7) c.166_167insC (p.Tyr56SerfsTer7) | gnomAD v4 |
2 | g.31533627A= | CA1242199316 | SRD5A2 | c.421T= (p.Tyr141=) c.199T= (p.Tyr67=) c.166T= (p.Tyr56=) | |
2 | g.31533627A>C | CA346598451 | SRD5A2 | c.421T>G (p.Tyr141Asp) c.199T>G (p.Tyr67Asp) c.166T>G (p.Tyr56Asp) | |
2 | g.31533627A>G | CA346598452 | SRD5A2 | c.421T>C (p.Tyr141His) c.199T>C (p.Tyr67His) c.166T>C (p.Tyr56His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533627A>T | CA346598453 | SRD5A2 | c.421T>A (p.Tyr141Asn) c.199T>A (p.Tyr67Asn) c.166T>A (p.Tyr56Asn) | |
2 | g.31533627_31533629delinsGAAT | CA2586969031 | SRD5A2 | c.419_421delinsATTC (p.Trp140TyrfsTer8) c.197_199delinsATTC (p.Trp66TyrfsTer8) c.164_166delinsATTC (p.Trp55TyrfsTer8) | |
2 | g.31533628C>A | CA1599946 | SRD5A2 | c.420G>T (p.Trp140Cys) c.198G>T (p.Trp66Cys) c.165G>T (p.Trp55Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533628C= | CA1242199317 | SRD5A2 | c.420G= (p.Trp140=) c.198G= (p.Trp66=) c.165G= (p.Trp55=) | |
2 | g.31533628C>G | CA346598454 | SRD5A2 | c.420G>C (p.Trp140Cys) c.198G>C (p.Trp66Cys) c.165G>C (p.Trp55Cys) | |
2 | g.31533628C>T | CA346598455 | SRD5A2 | c.420G>A (p.Trp140Ter) c.198G>A (p.Trp66Ter) c.165G>A (p.Trp55Ter) | dbSNP |
2 | g.31533629C>A | CA346598458 | SRD5A2 | c.419G>T (p.Trp140Leu) c.197G>T (p.Trp66Leu) c.164G>T (p.Trp55Leu) | |
2 | g.31533629C>G | CA346598457 | SRD5A2 | c.419G>C (p.Trp140Ser) c.197G>C (p.Trp66Ser) c.164G>C (p.Trp55Ser) | |
2 | g.31533629C>T | CA346598456 | SRD5A2 | c.419G>A (p.Trp140Ter) c.197G>A (p.Trp66Ter) c.164G>A (p.Trp55Ter) | gnomAD v4 |