Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31533604C>A | CA346598402 | SRD5A2 | c.444G>T (p.Leu148Phe) c.222G>T (p.Leu74Phe) c.189G>T (p.Leu63Phe) | |
2 | g.31533604C>G | CA346598403 | SRD5A2 | c.444G>C (p.Leu148Phe) c.222G>C (p.Leu74Phe) c.189G>C (p.Leu63Phe) | |
2 | g.31533604C>T | CA425568180 | SRD5A2 | c.444G>A (p.Leu148=) c.222G>A (p.Leu74=) c.189G>A (p.Leu63=) | |
2 | g.31533605A>C | CA346598404 | SRD5A2 | c.443T>G (p.Leu148Trp) c.221T>G (p.Leu74Trp) c.188T>G (p.Leu63Trp) | |
2 | g.31533605A>G | CA346598405 | SRD5A2 | c.443T>C (p.Leu148Ser) c.221T>C (p.Leu74Ser) c.188T>C (p.Leu63Ser) | |
2 | g.31533605A>T | CA346598406 | SRD5A2 | c.443T>A (p.Leu148Ter) c.221T>A (p.Leu74Ter) c.188T>A (p.Leu63Ter) | |
2 | g.31533606A= | CA1242199308 | SRD5A2 | c.442T= (p.Leu148=) c.220T= (p.Leu74=) c.187T= (p.Leu63=) | |
2 | g.31533606A>C | CA346598407 | SRD5A2 | c.442T>G (p.Leu148Val) c.220T>G (p.Leu74Val) c.187T>G (p.Leu63Val) | |
2 | g.31533606A>G | CA425568184 | SRD5A2 | c.442T>C (p.Leu148=) c.220T>C (p.Leu74=) c.187T>C (p.Leu63=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533606A>T | CA346598408 | SRD5A2 | c.442T>A (p.Leu148Met) c.220T>A (p.Leu74Met) c.187T>A (p.Leu63Met) | |
2 | g.31533607G>A | CA1599941 | SRD5A2 | c.441C>T (p.Ser147=) c.219C>T (p.Ser73=) c.186C>T (p.Ser62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31533607G>C | CA346598410 | SRD5A2 | c.441C>G (p.Ser147Arg) c.219C>G (p.Ser73Arg) c.186C>G (p.Ser62Arg) | |
2 | g.31533607G= | CA1242199309 | SRD5A2 | c.441C= (p.Ser147=) c.219C= (p.Ser73=) c.186C= (p.Ser62=) | |
2 | g.31533607G>T | CA346598409 | SRD5A2 | c.441C>A (p.Ser147Arg) c.219C>A (p.Ser73Arg) c.186C>A (p.Ser62Arg) | |
2 | g.31533608C>A | CA346598411 | SRD5A2 | c.440G>T (p.Ser147Ile) c.218G>T (p.Ser73Ile) c.185G>T (p.Ser62Ile) | dbSNP gnomAD v4 |
2 | g.31533608C= | CA1242199310 | SRD5A2 | c.440G= (p.Ser147=) c.218G= (p.Ser73=) c.185G= (p.Ser62=) | |
2 | g.31533608C>G | CA346598413 | SRD5A2 | c.440G>C (p.Ser147Thr) c.218G>C (p.Ser73Thr) c.185G>C (p.Ser62Thr) | |
2 | g.31533608C>T | CA346598412 | SRD5A2 | c.440G>A (p.Ser147Asn) c.218G>A (p.Ser73Asn) c.185G>A (p.Ser62Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533609T>A | CA346598414 | SRD5A2 | c.439A>T (p.Ser147Cys) c.217A>T (p.Ser73Cys) c.184A>T (p.Ser62Cys) | |
2 | g.31533609T>C | CA346598416 | SRD5A2 | c.439A>G (p.Ser147Gly) c.217A>G (p.Ser73Gly) c.184A>G (p.Ser62Gly) | |
2 | g.31533609T>G | CA346598415 | SRD5A2 | c.439A>C (p.Ser147Arg) c.217A>C (p.Ser73Arg) c.184A>C (p.Ser62Arg) | |
2 | g.31533610A>C | CA346598417 | SRD5A2 | c.438T>G (p.Phe146Leu) c.216T>G (p.Phe72Leu) c.183T>G (p.Phe61Leu) | |
2 | g.31533610A>G | CA425568193 | SRD5A2 | c.438T>C (p.Phe146=) c.216T>C (p.Phe72=) c.183T>C (p.Phe61=) | |
2 | g.31533610A>T | CA346598418 | SRD5A2 | c.438T>A (p.Phe146Leu) c.216T>A (p.Phe72Leu) c.183T>A (p.Phe61Leu) | |
2 | g.31533611A>C | CA346598419 | SRD5A2 | c.437T>G (p.Phe146Cys) c.215T>G (p.Phe72Cys) c.182T>G (p.Phe61Cys) | |
2 | g.31533611A>G | CA346598420 | SRD5A2 | c.437T>C (p.Phe146Ser) c.215T>C (p.Phe72Ser) c.182T>C (p.Phe61Ser) | |
2 | g.31533611A>T | CA346598421 | SRD5A2 | c.437T>A (p.Phe146Tyr) c.215T>A (p.Phe72Tyr) c.182T>A (p.Phe61Tyr) | |
2 | g.31533612A>C | CA346598422 | SRD5A2 | c.436T>G (p.Phe146Val) c.214T>G (p.Phe72Val) c.181T>G (p.Phe61Val) | |
2 | g.31533612A>G | CA346598423 | SRD5A2 | c.436T>C (p.Phe146Leu) c.214T>C (p.Phe72Leu) c.181T>C (p.Phe61Leu) | |
2 | g.31533612A>T | CA346598424 | SRD5A2 | c.436T>A (p.Phe146Ile) c.214T>A (p.Phe72Ile) c.181T>A (p.Phe61Ile) | |
2 | g.31533613C>A | CA425568200 | SRD5A2 | c.435G>T (p.Arg145=) c.213G>T (p.Arg71=) c.180G>T (p.Arg60=) | |
2 | g.31533613C>G | CA425568198 | SRD5A2 | c.435G>C (p.Arg145=) c.213G>C (p.Arg71=) c.180G>C (p.Arg60=) | |
2 | g.31533613C>T | CA425568199 | SRD5A2 | c.435G>A (p.Arg145=) c.213G>A (p.Arg71=) c.180G>A (p.Arg60=) | gnomAD v4 |
2 | g.31533614C>A | CA346598426 | SRD5A2 | c.434G>T (p.Arg145Leu) c.212G>T (p.Arg71Leu) c.179G>T (p.Arg60Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533614C= | CA1242199311 | SRD5A2 | c.434G= (p.Arg145=) c.212G= (p.Arg71=) c.179G= (p.Arg60=) | |
2 | g.31533614C>G | CA346598425 | SRD5A2 | c.434G>C (p.Arg145Pro) c.212G>C (p.Arg71Pro) c.179G>C (p.Arg60Pro) | |
2 | g.31533614C>T | CA1599942 | SRD5A2 | c.434G>A (p.Arg145Gln) c.212G>A (p.Arg71Gln) c.179G>A (p.Arg60Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533615G>A | CA1599943 | SRD5A2 | c.433C>T (p.Arg145Trp) c.211C>T (p.Arg71Trp) c.178C>T (p.Arg60Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533615G>C | CA346598427 | SRD5A2 | c.433C>G (p.Arg145Gly) c.211C>G (p.Arg71Gly) c.178C>G (p.Arg60Gly) | |
2 | g.31533615G= | CA1242199312 | SRD5A2 | c.433C= (p.Arg145=) c.211C= (p.Arg71=) c.178C= (p.Arg60=) | |
2 | g.31533615G>T | CA425568204 | SRD5A2 | c.433C>A (p.Arg145=) c.211C>A (p.Arg71=) c.178C>A (p.Arg60=) | dbSNP gnomAD v3 gnomAD v4 |
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) | |
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 |