Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31531431T>A | CA346598288 | SRD5A2 | c.487A>T (p.Ser163Cys) c.265A>T (p.Ser89Cys) c.232A>T (p.Ser78Cys) | gnomAD v4 |
2 | g.31531431T>C | CA346598289 | SRD5A2 | c.487A>G (p.Ser163Gly) c.265A>G (p.Ser89Gly) c.232A>G (p.Ser78Gly) | gnomAD v4 |
2 | g.31531431T>G | CA346598290 | SRD5A2 | c.487A>C (p.Ser163Arg) c.265A>C (p.Ser89Arg) c.232A>C (p.Ser78Arg) | |
2 | g.31531432A= | CA1242198330 | SRD5A2 | c.486T= (p.His162=) c.264T= (p.His88=) c.231T= (p.His77=) | |
2 | g.31531432A>C | CA346598291 | SRD5A2 | c.486T>G (p.His162Gln) c.264T>G (p.His88Gln) c.231T>G (p.His77Gln) | |
2 | g.31531432A>G | CA1599925 | SRD5A2 | c.486T>C (p.His162=) c.264T>C (p.His88=) c.231T>C (p.His77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531432A>T | CA346598292 | SRD5A2 | c.486T>A (p.His162Gln) c.264T>A (p.His88Gln) c.231T>A (p.His77Gln) | |
2 | g.31531433T>A | CA346598293 | SRD5A2 | c.485A>T (p.His162Leu) c.263A>T (p.His88Leu) c.230A>T (p.His77Leu) | |
2 | g.31531433T>C | CA346598295 | SRD5A2 | c.485A>G (p.His162Arg) c.263A>G (p.His88Arg) c.230A>G (p.His77Arg) | gnomAD v4 |
2 | g.31531433T>G | CA346598294 | SRD5A2 | c.485A>C (p.His162Pro) c.263A>C (p.His88Pro) c.230A>C (p.His77Pro) | ClinVar dbSNP |
2 | g.31531433T= | CA1242198331 | SRD5A2 | c.485A= (p.His162=) c.263A= (p.His88=) c.230A= (p.His77=) | |
2 | g.31531434G>A | CA346598296 | SRD5A2 | c.484C>T (p.His162Tyr) c.262C>T (p.His88Tyr) c.229C>T (p.His77Tyr) | |
2 | g.31531434G>C | CA346598298 | SRD5A2 | c.484C>G (p.His162Asp) c.262C>G (p.His88Asp) c.229C>G (p.His77Asp) | |
2 | g.31531434G>T | CA346598297 | SRD5A2 | c.484C>A (p.His162Asn) c.262C>A (p.His88Asn) c.229C>A (p.His77Asn) | gnomAD v4 |
2 | g.31531435A>C | CA346598299 | SRD5A2 | c.483T>G (p.Ile161Met) c.261T>G (p.Ile87Met) c.228T>G (p.Ile76Met) | |
2 | g.31531435A>G | CA425567623 | SRD5A2 | c.483T>C (p.Ile161=) c.261T>C (p.Ile87=) c.228T>C (p.Ile76=) | |
2 | g.31531435A>T | CA425567625 | SRD5A2 | c.483T>A (p.Ile161=) c.261T>A (p.Ile87=) c.228T>A (p.Ile76=) | |
2 | g.31531436A= | CA1242198332 | SRD5A2 | c.482T= (p.Ile161=) c.260T= (p.Ile87=) c.227T= (p.Ile76=) | |
2 | g.31531436A>C | CA346598302 | SRD5A2 | c.482T>G (p.Ile161Ser) c.260T>G (p.Ile87Ser) c.227T>G (p.Ile76Ser) | |
2 | g.31531436A>G | CA346598300 | SRD5A2 | c.482T>C (p.Ile161Thr) c.260T>C (p.Ile87Thr) c.227T>C (p.Ile76Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531436A>T | CA346598301 | SRD5A2 | c.482T>A (p.Ile161Asn) c.260T>A (p.Ile87Asn) c.227T>A (p.Ile76Asn) | |
2 | g.31531437T>A | CA346598303 | SRD5A2 | c.481A>T (p.Ile161Phe) c.259A>T (p.Ile87Phe) c.226A>T (p.Ile76Phe) | |
2 | g.31531437T>C | CA346598304 | SRD5A2 | c.481A>G (p.Ile161Val) c.259A>G (p.Ile87Val) c.226A>G (p.Ile76Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531437T>G | CA346598305 | SRD5A2 | c.481A>C (p.Ile161Leu) c.259A>C (p.Ile87Leu) c.226A>C (p.Ile76Leu) | |
2 | g.31531437T= | CA1242198333 | SRD5A2 | c.481A= (p.Ile161=) c.259A= (p.Ile87=) c.226A= (p.Ile76=) | |
2 | g.31531438G>A | CA425567630 | SRD5A2 | c.480C>T (p.Asn160=) c.258C>T (p.Asn86=) c.225C>T (p.Asn75=) | ClinVar gnomAD v4 |
2 | g.31531438G>C | CA346598306 | SRD5A2 | c.480C>G (p.Asn160Lys) c.258C>G (p.Asn86Lys) c.225C>G (p.Asn75Lys) | |
2 | g.31531438G>T | CA346598307 | SRD5A2 | c.480C>A (p.Asn160Lys) c.258C>A (p.Asn86Lys) c.225C>A (p.Asn75Lys) | gnomAD v4 |
2 | g.31531439T>A | CA346598308 | SRD5A2 | c.479A>T (p.Asn160Ile) c.257A>T (p.Asn86Ile) c.224A>T (p.Asn75Ile) | |
2 | g.31531439T>C | CA346598309 | SRD5A2 | c.479A>G (p.Asn160Ser) c.257A>G (p.Asn86Ser) c.224A>G (p.Asn75Ser) | gnomAD v4 |
2 | g.31531439T>G | CA346598310 | SRD5A2 | c.479A>C (p.Asn160Thr) c.257A>C (p.Asn86Thr) c.224A>C (p.Asn75Thr) | |
2 | g.31531440T>A | CA346598311 | SRD5A2 | c.478A>T (p.Asn160Tyr) c.256A>T (p.Asn86Tyr) c.223A>T (p.Asn75Tyr) | |
2 | g.31531440T>C | CA346598312 | SRD5A2 | c.478A>G (p.Asn160Asp) c.256A>G (p.Asn86Asp) c.223A>G (p.Asn75Asp) | |
2 | g.31531440T>G | CA346598313 | SRD5A2 | c.478A>C (p.Asn160His) c.256A>C (p.Asn86His) c.223A>C (p.Asn75His) | |
2 | g.31531441T>A | CA425567636 | SRD5A2 | c.477A>T (p.Ile159=) c.255A>T (p.Ile85=) c.222A>T (p.Ile74=) | |
2 | g.31531441T>C | CA346598314 | SRD5A2 | c.477A>G (p.Ile159Met) c.255A>G (p.Ile85Met) c.222A>G (p.Ile74Met) | |
2 | g.31531441T>G | CA425567637 | SRD5A2 | c.477A>C (p.Ile159=) c.255A>C (p.Ile85=) c.222A>C (p.Ile74=) | |
2 | g.31531442A>C | CA346598315 | SRD5A2 | c.476T>G (p.Ile159Arg) c.254T>G (p.Ile85Arg) c.221T>G (p.Ile74Arg) | |
2 | g.31531442A>G | CA346598316 | SRD5A2 | c.476T>C (p.Ile159Thr) c.254T>C (p.Ile85Thr) c.221T>C (p.Ile74Thr) | |
2 | g.31531442A>T | CA346598317 | SRD5A2 | c.476T>A (p.Ile159Lys) c.254T>A (p.Ile85Lys) c.221T>A (p.Ile74Lys) | |
2 | g.31531443T>A | CA346598318 | SRD5A2 | c.475A>T (p.Ile159Leu) c.253A>T (p.Ile85Leu) c.220A>T (p.Ile74Leu) | |
2 | g.31531443T>C | CA346598319 | SRD5A2 | c.475A>G (p.Ile159Val) c.253A>G (p.Ile85Val) c.220A>G (p.Ile74Val) | |
2 | g.31531443T>G | CA346598320 | SRD5A2 | c.475A>C (p.Ile159Leu) c.253A>C (p.Ile85Leu) c.220A>C (p.Ile74Leu) | |
2 | g.31531444T>A | CA425567644 | SRD5A2 | c.474A>T (p.Gly158=) c.252A>T (p.Gly84=) c.219A>T (p.Gly73=) | |
2 | g.31531444T>C | CA425567645 | SRD5A2 | c.474A>G (p.Gly158=) c.252A>G (p.Gly84=) c.219A>G (p.Gly73=) | gnomAD v4 COSMIC |
2 | g.31531444T>G | CA425567646 | SRD5A2 | c.474A>C (p.Gly158=) c.252A>C (p.Gly84=) c.219A>C (p.Gly73=) | |
2 | g.31531445C>A | CA346598321 | SRD5A2 | c.473G>T (p.Gly158Val) c.251G>T (p.Gly84Val) c.218G>T (p.Gly73Val) | gnomAD v4 |
2 | g.31531445C= | CA1242198334 | SRD5A2 | c.473G= (p.Gly158=) c.251G= (p.Gly84=) c.218G= (p.Gly73=) | |
2 | g.31531445C>G | CA346598322 | SRD5A2 | c.473G>C (p.Gly158Ala) c.251G>C (p.Gly84Ala) c.218G>C (p.Gly73Ala) | gnomAD v4 |
2 | g.31531445C>T | CA1599926 | SRD5A2 | c.473G>A (p.Gly158Glu) c.251G>A (p.Gly84Glu) c.218G>A (p.Gly73Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531447del | CA2658498714 | SRD5A2 | c.473del (p.Gly158GlufsTer2) c.251del (p.Gly84GlufsTer2) c.218del (p.Gly73GlufsTer2) | gnomAD v4 |
2 | g.31531446C>A | CA346598323 | SRD5A2 | c.472G>T (p.Gly158Ter) c.250G>T (p.Gly84Ter) c.217G>T (p.Gly73Ter) | gnomAD v4 |
2 | g.31531446C>G | CA346598324 | SRD5A2 | c.472G>C (p.Gly158Arg) c.250G>C (p.Gly84Arg) c.217G>C (p.Gly73Arg) | |
2 | g.31531446C>T | CA346598325 | SRD5A2 | c.472G>A (p.Gly158Arg) c.250G>A (p.Gly84Arg) c.217G>A (p.Gly73Arg) | gnomAD v4 |
2 | g.31531447C>A | CA346598328 | SRD5A2 | c.471G>T (p.Met157Ile) c.249G>T (p.Met83Ile) c.216G>T (p.Met72Ile) | gnomAD v4 |
2 | g.31531447C>G | CA346598327 | SRD5A2 | c.471G>C (p.Met157Ile) c.249G>C (p.Met83Ile) c.216G>C (p.Met72Ile) | |
2 | g.31531447C>T | CA346598326 | SRD5A2 | c.471G>A (p.Met157Ile) c.249G>A (p.Met83Ile) c.216G>A (p.Met72Ile) | COSMIC COSMIC |
2 | g.31531447_31531449del | CA2586969029 | SRD5A2 | c.469_471del (p.Met157del) c.247_249del (p.Met83del) c.214_216del (p.Met72del) | |
2 | g.31531447_31531450delinsCATT | CA1242198335 | SRD5A2 | c.468_471delinsAATG (p.Gly156=) c.246_249delinsAATG (p.Gly82=) c.213_216delinsAATG (p.Gly71=) | |
2 | g.31531448A= | CA1242198336 | SRD5A2 | c.470T= (p.Met157=) c.248T= (p.Met83=) c.215T= (p.Met72=) | |
2 | g.31531448A>C | CA346598329 | SRD5A2 | c.470T>G (p.Met157Arg) c.248T>G (p.Met83Arg) c.215T>G (p.Met72Arg) | gnomAD v4 |
2 | g.31531448A>G | CA346598330 | SRD5A2 | c.470T>C (p.Met157Thr) c.248T>C (p.Met83Thr) c.215T>C (p.Met72Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531448A>T | CA346598331 | SRD5A2 | c.470T>A (p.Met157Lys) c.248T>A (p.Met83Lys) c.215T>A (p.Met72Lys) | |
2 | g.31531448_31531450del | CA340066 | SRD5A2 | c.468_470del (p.Met157del) c.246_248del (p.Met83del) c.213_215del (p.Met72del) | ClinVar dbSNP |
2 | g.31531449T>A | CA346598332 | SRD5A2 | c.469A>T (p.Met157Leu) c.247A>T (p.Met83Leu) c.214A>T (p.Met72Leu) | |
2 | g.31531449T>C | CA346598333 | SRD5A2 | c.469A>G (p.Met157Val) c.247A>G (p.Met83Val) c.214A>G (p.Met72Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531449T>G | CA346598334 | SRD5A2 | c.469A>C (p.Met157Leu) c.247A>C (p.Met83Leu) c.214A>C (p.Met72Leu) | |
2 | g.31531449T= | CA1242198337 | SRD5A2 | c.469A= (p.Met157=) c.247A= (p.Met83=) c.214A= (p.Met72=) | |
2 | g.31531450T>A | CA425567659 | SRD5A2 | c.468A>T (p.Gly156=) c.246A>T (p.Gly82=) c.213A>T (p.Gly71=) | |
2 | g.31531450T>C | CA425567660 | SRD5A2 | c.468A>G (p.Gly156=) c.246A>G (p.Gly82=) c.213A>G (p.Gly71=) | |
2 | g.31531450T>G | CA425567662 | SRD5A2 | c.468A>C (p.Gly156=) c.246A>C (p.Gly82=) c.213A>C (p.Gly71=) | |
2 | g.31531451C>A | CA346598335 | SRD5A2 | c.467G>T (p.Gly156Val) c.245G>T (p.Gly82Val) c.212G>T (p.Gly71Val) | gnomAD v4 |
2 | g.31531451C= | CA1242198338 | SRD5A2 | c.467G= (p.Gly156=) c.245G= (p.Gly82=) c.212G= (p.Gly71=) | |
2 | g.31531451C>G | CA346598336 | SRD5A2 | c.467G>C (p.Gly156Ala) c.245G>C (p.Gly82Ala) c.212G>C (p.Gly71Ala) | |
2 | g.31531451C>T | CA346598337 | SRD5A2 | c.467G>A (p.Gly156Glu) c.245G>A (p.Gly82Glu) c.212G>A (p.Gly71Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.31531452C>A | CA346598338 | SRD5A2 | c.466G>T (p.Gly156Ter) c.244G>T (p.Gly82Ter) c.211G>T (p.Gly71Ter) | gnomAD v4 |
2 | g.31531452C>G | CA346598339 | SRD5A2 | c.466G>C (p.Gly156Arg) c.244G>C (p.Gly82Arg) c.211G>C (p.Gly71Arg) | |
2 | g.31531452C>T | CA346598340 | SRD5A2 | c.466G>A (p.Gly156Arg) c.244G>A (p.Gly82Arg) c.211G>A (p.Gly71Arg) | |
2 | g.31531453C>A | CA346598341 | SRD5A2 | c.465G>T (p.Leu155Phe) c.243G>T (p.Leu81Phe) c.210G>T (p.Leu70Phe) | gnomAD v4 |
2 | g.31531453C= | CA1242198339 | SRD5A2 | c.465G= (p.Leu155=) c.243G= (p.Leu81=) c.210G= (p.Leu70=) | |
2 | g.31531453C>G | CA346598342 | SRD5A2 | c.465G>C (p.Leu155Phe) c.243G>C (p.Leu81Phe) c.210G>C (p.Leu70Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531453C>T | CA425567667 | SRD5A2 | c.465G>A (p.Leu155=) c.243G>A (p.Leu81=) c.210G>A (p.Leu70=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531454A>C | CA346598343 | SRD5A2 | c.464T>G (p.Leu155Trp) c.242T>G (p.Leu81Trp) c.209T>G (p.Leu70Trp) | |
2 | g.31531454A>G | CA346598344 | SRD5A2 | c.464T>C (p.Leu155Ser) c.242T>C (p.Leu81Ser) c.209T>C (p.Leu70Ser) | gnomAD v4 |
2 | g.31531454A>T | CA346598345 | SRD5A2 | c.464T>A (p.Leu155Ter) c.242T>A (p.Leu81Ter) c.209T>A (p.Leu70Ter) | |
2 | g.31531457del | CA531712594 | SRD5A2 | c.464del (p.Leu155TrpfsTer5) c.242del (p.Leu81TrpfsTer5) c.209del (p.Leu70TrpfsTer5) | gnomAD v2 gnomAD v4 |
2 | g.31531455A>C | CA346598346 | SRD5A2 | c.463T>G (p.Leu155Val) c.241T>G (p.Leu81Val) c.208T>G (p.Leu70Val) | |
2 | g.31531455A>G | CA425567671 | SRD5A2 | c.463T>C (p.Leu155=) c.241T>C (p.Leu81=) c.208T>C (p.Leu70=) | gnomAD v4 |
2 | g.31531455A>T | CA346598347 | SRD5A2 | c.463T>A (p.Leu155Met) c.241T>A (p.Leu81Met) c.208T>A (p.Leu70Met) | |
2 | g.31531461_31531464del | CA2658498723 | SRD5A2 | c.460_463del (p.Ile154TrpfsTer5) c.238_241del (p.Ile80TrpfsTer5) c.205_208del (p.Ile69TrpfsTer5) | gnomAD v4 |
2 | g.31531456A= | CA1242198340 | SRD5A2 | c.462T= (p.Ile154=) c.240T= (p.Ile80=) c.207T= (p.Ile69=) | |
2 | g.31531456A>C | CA346598348 | SRD5A2 | c.462T>G (p.Ile154Met) c.240T>G (p.Ile80Met) c.207T>G (p.Ile69Met) | |
2 | g.31531456A>G | CA425567672 | SRD5A2 | c.462T>C (p.Ile154=) c.240T>C (p.Ile80=) c.207T>C (p.Ile69=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531456A>T | CA425567673 | SRD5A2 | c.462T>A (p.Ile154=) c.240T>A (p.Ile80=) c.207T>A (p.Ile69=) | |
2 | g.31531456_31531457insCACACCCAACAC | CA2749375066 | SRD5A2 | c.461_462insGTGTTGGGTGTG (p.Ile154delinsMetCysTrpValCys) c.239_240insGTGTTGGGTGTG (p.Ile80delinsMetCysTrpValCys) c.206_207insGTGTTGGGTGTG (p.Ile69delinsMetCysTrpValCys) | |
2 | g.31531457A>C | CA346598349 | SRD5A2 | c.461T>G (p.Ile154Ser) c.239T>G (p.Ile80Ser) c.206T>G (p.Ile69Ser) | |
2 | g.31531457A>G | CA346598350 | SRD5A2 | c.461T>C (p.Ile154Thr) c.239T>C (p.Ile80Thr) c.206T>C (p.Ile69Thr) | gnomAD v4 |
2 | g.31531457A>T | CA346598351 | SRD5A2 | c.461T>A (p.Ile154Asn) c.239T>A (p.Ile80Asn) c.206T>A (p.Ile69Asn) | |
2 | g.31531458T>A | CA346598352 | SRD5A2 | c.460A>T (p.Ile154Phe) c.238A>T (p.Ile80Phe) c.205A>T (p.Ile69Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531458T>C | CA346598353 | SRD5A2 | c.460A>G (p.Ile154Val) c.238A>G (p.Ile80Val) c.205A>G (p.Ile69Val) | |
2 | g.31531458T>G | CA346598354 | SRD5A2 | c.460A>C (p.Ile154Leu) c.238A>C (p.Ile80Leu) c.205A>C (p.Ile69Leu) | |
2 | g.31531458T= | CA1242198341 | SRD5A2 | c.460A= (p.Ile154=) c.238A= (p.Ile80=) c.205A= (p.Ile69=) | |
2 | g.31531459A>C | CA346598355 | SRD5A2 | c.459T>G (p.Phe153Leu) c.237T>G (p.Phe79Leu) c.204T>G (p.Phe68Leu) | |
2 | g.31531459A>G | CA425567679 | SRD5A2 | c.459T>C (p.Phe153=) c.237T>C (p.Phe79=) c.204T>C (p.Phe68=) | |
2 | g.31531459A>T | CA346598356 | SRD5A2 | c.459T>A (p.Phe153Leu) c.237T>A (p.Phe79Leu) c.204T>A (p.Phe68Leu) | |
2 | g.31531460A>C | CA346598357 | SRD5A2 | c.458T>G (p.Phe153Cys) c.236T>G (p.Phe79Cys) c.203T>G (p.Phe68Cys) | |
2 | g.31531460A>G | CA346598359 | SRD5A2 | c.458T>C (p.Phe153Ser) c.236T>C (p.Phe79Ser) c.203T>C (p.Phe68Ser) | gnomAD v4 |
2 | g.31531460A>T | CA346598358 | SRD5A2 | c.458T>A (p.Phe153Tyr) c.236T>A (p.Phe79Tyr) c.203T>A (p.Phe68Tyr) | |
2 | g.31531461A= | CA1242198343 | SRD5A2 | c.457T= (p.Phe153=) c.235T= (p.Phe79=) c.202T= (p.Phe68=) | |
2 | g.31531461A>C | CA346598360 | SRD5A2 | c.457T>G (p.Phe153Val) c.235T>G (p.Phe79Val) c.202T>G (p.Phe68Val) | |
2 | g.31531461A>G | CA346598361 | SRD5A2 | c.457T>C (p.Phe153Leu) c.235T>C (p.Phe79Leu) c.202T>C (p.Phe68Leu) | dbSNP gnomAD v4 |
2 | g.31531461A>T | CA346598362 | SRD5A2 | c.457T>A (p.Phe153Ile) c.235T>A (p.Phe79Ile) c.202T>A (p.Phe68Ile) | |
2 | g.31531461_31531462delinsAT | CA1242198342 | SRD5A2 | c.456_457delinsAT (p.Leu152=) c.234_235delinsAT (p.Leu78=) c.201_202delinsAT (p.Leu67=) | |
2 | g.31531462del | CA531712602 | SRD5A2 | c.456del (p.Leu152PhefsTer8) c.234del (p.Leu78PhefsTer8) c.201del (p.Leu67PhefsTer8) | dbSNP gnomAD v2 |
2 | g.31531462T>A | CA346598363 | SRD5A2 | c.456A>T (p.Leu152Phe) c.234A>T (p.Leu78Phe) c.201A>T (p.Leu67Phe) | gnomAD v2 gnomAD v4 |
2 | g.31531462T>C | CA425567686 | SRD5A2 | c.456A>G (p.Leu152=) c.234A>G (p.Leu78=) c.201A>G (p.Leu67=) | |
2 | g.31531462T>G | CA346598364 | SRD5A2 | c.456A>C (p.Leu152Phe) c.234A>C (p.Leu78Phe) c.201A>C (p.Leu67Phe) | |
2 | g.31531462_31531465delinsTAAG | CA1242198344 | SRD5A2 | c.453_456delinsCTTA (p.Phe151=) c.231_234delinsCTTA (p.Phe77=) c.198_201delinsCTTA (p.Phe66=) | |
2 | g.31531463A>C | CA346598365 | SRD5A2 | c.455T>G (p.Leu152Ter) c.233T>G (p.Leu78Ter) c.200T>G (p.Leu67Ter) | |
2 | g.31531463A>G | CA346598366 | SRD5A2 | c.455T>C (p.Leu152Ser) c.233T>C (p.Leu78Ser) c.200T>C (p.Leu67Ser) | |
2 | g.31531463A>T | CA346598367 | SRD5A2 | c.455T>A (p.Leu152Ter) c.233T>A (p.Leu78Ter) c.200T>A (p.Leu67Ter) | |
2 | g.31531467_31531469del | CA1599927 | SRD5A2 | c.453_455del (p.Phe151del) c.231_233del (p.Phe77del) c.198_200del (p.Phe66del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531464A>C | CA346598368 | SRD5A2 | c.454T>G (p.Leu152Val) c.232T>G (p.Leu78Val) c.199T>G (p.Leu67Val) | |
2 | g.31531464A>G | CA425567692 | SRD5A2 | c.454T>C (p.Leu152=) c.232T>C (p.Leu78=) c.199T>C (p.Leu67=) | |
2 | g.31531464A>T | CA346598369 | SRD5A2 | c.454T>A (p.Leu152Ile) c.232T>A (p.Leu78Ile) c.199T>A (p.Leu67Ile) | |
2 | g.31531465del | CA2576929368 | SRD5A2 | c.453del (p.Leu152TyrfsTer8) c.231del (p.Leu78TyrfsTer8) c.198del (p.Leu67TyrfsTer8) | gnomAD v4 |
2 | g.31531465G>A | CA1599928 | SRD5A2 | c.453C>T (p.Phe151=) c.231C>T (p.Phe77=) c.198C>T (p.Phe66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531465G>C | CA346598371 | SRD5A2 | c.453C>G (p.Phe151Leu) c.231C>G (p.Phe77Leu) c.198C>G (p.Phe66Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531465G= | CA1242198345 | SRD5A2 | c.453C= (p.Phe151=) c.231C= (p.Phe77=) c.198C= (p.Phe66=) | |
2 | g.31531465G>T | CA346598370 | SRD5A2 | c.453C>A (p.Phe151Leu) c.231C>A (p.Phe77Leu) c.198C>A (p.Phe66Leu) | dbSNP |
2 | g.31531466A>C | CA346598372 | SRD5A2 | c.452T>G (p.Phe151Cys) c.230T>G (p.Phe77Cys) c.197T>G (p.Phe66Cys) | |
2 | g.31531466A>G | CA346598373 | SRD5A2 | c.452T>C (p.Phe151Ser) c.230T>C (p.Phe77Ser) c.197T>C (p.Phe66Ser) | |
2 | g.31531466A>T | CA346598374 | SRD5A2 | c.452T>A (p.Phe151Tyr) c.230T>A (p.Phe77Tyr) c.197T>A (p.Phe66Tyr) | gnomAD v4 |
2 | g.31531467A>C | CA346598375 | SRD5A2 | c.451T>G (p.Phe151Val) c.229T>G (p.Phe77Val) c.196T>G (p.Phe66Val) | |
2 | g.31531467A>G | CA346598376 | SRD5A2 | c.451T>C (p.Phe151Leu) c.229T>C (p.Phe77Leu) c.196T>C (p.Phe66Leu) | |
2 | g.31531467A>T | CA346598377 | SRD5A2 | c.451T>A (p.Phe151Ile) c.229T>A (p.Phe77Ile) c.196T>A (p.Phe66Ile) | gnomAD v4 |
2 | g.31531468del | CA2586969030 | SRD5A2 | c.450del (p.Phe151SerfsTer9) c.228del (p.Phe77SerfsTer9) c.195del (p.Phe66SerfsTer9) | |
2 | g.31531468G>A | CA425567701 | SRD5A2 | c.450C>T (p.Val150=) c.228C>T (p.Val76=) c.195C>T (p.Val65=) | COSMIC |
2 | g.31531468G>C | CA425567702 | SRD5A2 | c.450C>G (p.Val150=) c.228C>G (p.Val76=) c.195C>G (p.Val65=) | dbSNP gnomAD v2 |
2 | g.31531468G= | CA1242198346 | SRD5A2 | c.450C= (p.Val150=) c.228C= (p.Val76=) c.195C= (p.Val65=) | |
2 | g.31531468G>T | CA425567704 | SRD5A2 | c.450C>A (p.Val150=) c.228C>A (p.Val76=) c.195C>A (p.Val65=) | |
2 | g.31531468_31531478del | CA2658498737 | SRD5A2 | c.446-6_450del c.224-6_228del c.191-6_195del | gnomAD v4 |
2 | g.31531469A= | CA1242198347 | SRD5A2 | c.449T= (p.Val150=) c.227T= (p.Val76=) c.194T= (p.Val65=) | |
2 | g.31531469A>C | CA346598378 | SRD5A2 | c.449T>G (p.Val150Gly) c.227T>G (p.Val76Gly) c.194T>G (p.Val65Gly) | |
2 | g.31531469A>G | CA346598379 | SRD5A2 | c.449T>C (p.Val150Ala) c.227T>C (p.Val76Ala) c.194T>C (p.Val65Ala) | gnomAD v4 |
2 | g.31531469A>T | CA346598380 | SRD5A2 | c.449T>A (p.Val150Asp) c.227T>A (p.Val76Asp) c.194T>A (p.Val65Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531470C>A | CA346598381 | SRD5A2 | c.448G>T (p.Val150Phe) c.226G>T (p.Val76Phe) c.193G>T (p.Val65Phe) | |
2 | g.31531470C>G | CA346598382 | SRD5A2 | c.448G>C (p.Val150Leu) c.226G>C (p.Val76Leu) c.193G>C (p.Val65Leu) | |
2 | g.31531470C>T | CA346598383 | SRD5A2 | c.448G>A (p.Val150Ile) c.226G>A (p.Val76Ile) c.193G>A (p.Val65Ile) | gnomAD v4 |
2 | g.31531471A>C | CA425567709 | SRD5A2 | c.447T>G (p.Gly149=) c.225T>G (p.Gly75=) c.192T>G (p.Gly64=) | |
2 | g.31531471A>G | CA425567710 | SRD5A2 | c.447T>C (p.Gly149=) c.225T>C (p.Gly75=) c.192T>C (p.Gly64=) | gnomAD v4 |
2 | g.31531471A>T | CA425567712 | SRD5A2 | c.447T>A (p.Gly149=) c.225T>A (p.Gly75=) c.192T>A (p.Gly64=) | |
2 | g.31531472C>A | CA346598386 | SRD5A2 | c.446G>T (p.Gly149Val) c.224G>T (p.Gly75Val) c.191G>T (p.Gly64Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531472C= | CA1242198348 | SRD5A2 | c.446G= (p.Gly149=) c.224G= (p.Gly75=) c.191G= (p.Gly64=) | |
2 | g.31531472C>G | CA346598385 | SRD5A2 | c.446G>C (p.Gly149Ala) c.224G>C (p.Gly75Ala) c.191G>C (p.Gly64Ala) | |
2 | g.31531472C>T | CA346598384 | SRD5A2 | c.446G>A (p.Gly149Asp) c.224G>A (p.Gly75Asp) c.191G>A (p.Gly64Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531473C>A | CA346598387 | SRD5A2 | c.446-1G>T (n.446-1G>T) c.224-1G>T (n.224-1G>T) c.191-1G>T (n.191-1G>T) | gnomAD v4 |
2 | g.31531473C= | CA1242198349 | SRD5A2 | c.446-1G= (n.446-1G=) c.224-1G= (n.224-1G=) c.191-1G= (n.191-1G=) | |
2 | g.31531473C>G | CA346598388 | SRD5A2 | c.446-1G>C (n.446-1G>C) c.224-1G>C (n.224-1G>C) c.191-1G>C (n.191-1G>C) | |
2 | g.31531473C>T | CA346598389 | SRD5A2 | c.446-1G>A (n.446-1G>A) c.224-1G>A (n.224-1G>A) c.191-1G>A (n.191-1G>A) | dbSNP gnomAD v2 |
2 | g.31531474T>A | CA346598390 | SRD5A2 | c.446-2A>T (n.446-2A>T) c.224-2A>T (n.224-2A>T) c.191-2A>T (n.191-2A>T) | |
2 | g.31531474T>C | CA346598391 | SRD5A2 | c.446-2A>G (n.446-2A>G) c.224-2A>G (n.224-2A>G) c.191-2A>G (n.191-2A>G) | |
2 | g.31531474T>G | CA346598392 | SRD5A2 | c.446-2A>C (n.446-2A>C) c.224-2A>C (n.224-2A>C) c.191-2A>C (n.191-2A>C) | dbSNP gnomAD v4 |
2 | g.31531474T= | CA1242198350 | SRD5A2 | c.446-2A= (n.446-2A=) c.224-2A= (n.224-2A=) c.191-2A= (n.191-2A=) | |
2 | g.31531475T>C | CA2658498743 | SRD5A2 | c.446-3A>G (n.446-3A>G) c.224-3A>G (n.224-3A>G) c.191-3A>G (n.191-3A>G) | gnomAD v4 |
2 | g.31531476G>A | CA531712612 | SRD5A2 | c.446-4C>T (n.446-4C>T) c.224-4C>T (n.224-4C>T) c.191-4C>T (n.191-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531476G>C | CA2658498744 | SRD5A2 | c.446-4C>G (n.446-4C>G) c.224-4C>G (n.224-4C>G) c.191-4C>G (n.191-4C>G) | gnomAD v4 |
2 | g.31531476G= | CA1242198351 | SRD5A2 | c.446-4C= (n.446-4C=) c.224-4C= (n.224-4C=) c.191-4C= (n.191-4C=) | |
2 | g.31531476G>T | CA2658498745 | SRD5A2 | c.446-4C>A (n.446-4C>A) c.224-4C>A (n.224-4C>A) c.191-4C>A (n.191-4C>A) | gnomAD v4 |
2 | g.31531478C>A | CA2658498746 | SRD5A2 | c.446-6G>T (n.446-6G>T) c.224-6G>T (n.224-6G>T) c.191-6G>T (n.191-6G>T) | gnomAD v4 |
2 | g.31531479_31531482delinsAAAG | CA1242198352 | SRD5A2 | c.446-10_446-7delinsCTTT (n.446-10_446-7delinsCTTT) c.224-10_224-7delinsCTTT (n.224-10_224-7delinsCTTT) c.191-10_191-7delinsCTTT (n.191-10_191-7delinsCTTT) | |
2 | g.31531480A>G | CA2658498748 | SRD5A2 | c.446-8T>C (n.446-8T>C) c.224-8T>C (n.224-8T>C) c.191-8T>C (n.191-8T>C) | gnomAD v4 |
2 | g.31531484_31531486del | CA1599929 | SRD5A2 | c.446-10_446-8del (n.446-10_446-8del) c.224-10_224-8del (n.224-10_224-8del) c.191-10_191-8del (n.191-10_191-8del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531482G>A | CA2658498749 | SRD5A2 | c.446-10C>T (n.446-10C>T) c.224-10C>T (n.224-10C>T) c.191-10C>T (n.191-10C>T) | gnomAD v4 |
2 | g.31531482G>T | CA2658498750 | SRD5A2 | c.446-10C>A (n.446-10C>A) c.224-10C>A (n.224-10C>A) c.191-10C>A (n.191-10C>A) | gnomAD v4 |
2 | g.31531483A= | CA1242198353 | SRD5A2 | c.446-11T= (n.446-11T=) c.224-11T= (n.224-11T=) c.191-11T= (n.191-11T=) | |
2 | g.31531483A>T | CA1599930 | SRD5A2 | c.446-11T>A (n.446-11T>A) c.224-11T>A (n.224-11T>A) c.191-11T>A (n.191-11T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531483_31531487delinsAAGAG | CA1242198354 | SRD5A2 | c.446-15_446-11delinsCTCTT (n.446-15_446-11delinsCTCTT) c.224-15_224-11delinsCTCTT (n.224-15_224-11delinsCTCTT) c.191-15_191-11delinsCTCTT (n.191-15_191-11delinsCTCTT) | |
2 | g.31531484A= | CA1242198356 | SRD5A2 | c.446-12T= (n.446-12T=) c.224-12T= (n.224-12T=) c.191-12T= (n.191-12T=) | |
2 | g.31531484A>G | CA1599931 | SRD5A2 | c.446-12T>C (n.446-12T>C) c.224-12T>C (n.224-12T>C) c.191-12T>C (n.191-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531487_31531490del | CA1242198355 | SRD5A2 | c.446-15_446-12del (n.446-15_446-12del) c.224-15_224-12del (n.224-15_224-12del) c.191-15_191-12del (n.191-15_191-12del) | dbSNP |
2 | g.31531485G>A | CA2658498754 | SRD5A2 | c.446-13C>T (n.446-13C>T) c.224-13C>T (n.224-13C>T) c.191-13C>T (n.191-13C>T) | gnomAD v4 |
2 | g.31531485G= | CA1242198357 | SRD5A2 | c.446-13C= (n.446-13C=) c.224-13C= (n.224-13C=) c.191-13C= (n.191-13C=) | |
2 | g.31531485G>T | CA767760301 | SRD5A2 | c.446-13C>A (n.446-13C>A) c.224-13C>A (n.224-13C>A) c.191-13C>A (n.191-13C>A) | dbSNP gnomAD v4 |
2 | g.31531485_31531487del | CA2658498753 | SRD5A2 | c.446-15_446-13del (n.446-15_446-13del) c.224-15_224-13del (n.224-15_224-13del) c.191-15_191-13del (n.191-15_191-13del) | gnomAD v4 |
2 | g.31531486A>G | CA2658498755 | SRD5A2 | c.446-14T>C (n.446-14T>C) c.224-14T>C (n.224-14T>C) c.191-14T>C (n.191-14T>C) | gnomAD v4 |
2 | g.31531487G>C | CA2658498757 | SRD5A2 | c.446-15C>G (n.446-15C>G) c.224-15C>G (n.224-15C>G) c.191-15C>G (n.191-15C>G) | ClinVar gnomAD v4 |
2 | g.31531487G= | CA1242198358 | SRD5A2 | c.446-15C= (n.446-15C=) c.224-15C= (n.224-15C=) c.191-15C= (n.191-15C=) | |
2 | g.31531487G>T | CA531712632 | SRD5A2 | c.446-15C>A (n.446-15C>A) c.224-15C>A (n.224-15C>A) c.191-15C>A (n.191-15C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531489G>A | CA2658498758 | SRD5A2 | c.446-17C>T (n.446-17C>T) c.224-17C>T (n.224-17C>T) c.191-17C>T (n.191-17C>T) | gnomAD v4 |
2 | g.31531489G>T | CA2658498759 | SRD5A2 | c.446-17C>A (n.446-17C>A) c.224-17C>A (n.224-17C>A) c.191-17C>A (n.191-17C>A) | gnomAD v4 |
2 | g.31531492A>G | CA2658498760 | SRD5A2 | c.446-20T>C (n.446-20T>C) c.224-20T>C (n.224-20T>C) c.191-20T>C (n.191-20T>C) | gnomAD v4 |
2 | g.31531493G>T | CA2658498761 | SRD5A2 | c.446-21C>A (n.446-21C>A) c.224-21C>A (n.224-21C>A) c.191-21C>A (n.191-21C>A) | gnomAD v4 |
2 | g.31531494G>A | CA1599932 | SRD5A2 | c.446-22C>T (n.446-22C>T) c.224-22C>T (n.224-22C>T) c.191-22C>T (n.191-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531494G= | CA1242198359 | SRD5A2 | c.446-22C= (n.446-22C=) c.224-22C= (n.224-22C=) c.191-22C= (n.191-22C=) | |
2 | g.31531494G>T | CA2658498762 | SRD5A2 | c.446-22C>A (n.446-22C>A) c.224-22C>A (n.224-22C>A) c.191-22C>A (n.191-22C>A) | gnomAD v4 |
2 | g.31531495A>G | CA2658498764 | SRD5A2 | c.446-23T>C (n.446-23T>C) c.224-23T>C (n.224-23T>C) c.191-23T>C (n.191-23T>C) | gnomAD v4 |
2 | g.31531496G= | CA1242198360 | SRD5A2 | c.446-24C= (n.446-24C=) c.224-24C= (n.224-24C=) c.191-24C= (n.191-24C=) | |
2 | g.31531496G>T | CA531712636 | SRD5A2 | c.446-24C>A (n.446-24C>A) c.224-24C>A (n.224-24C>A) c.191-24C>A (n.191-24C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531496_31531497delinsGA | CA1242198361 | SRD5A2 | c.446-25_446-24delinsTC (n.446-25_446-24delinsTC) c.224-25_224-24delinsTC (n.224-25_224-24delinsTC) c.191-25_191-24delinsTC (n.191-25_191-24delinsTC) | |
2 | g.31531497A= | CA1242198362 | SRD5A2 | c.446-25T= (n.446-25T=) c.224-25T= (n.224-25T=) c.191-25T= (n.191-25T=) | |
2 | g.31531497A>G | CA1242198363 | SRD5A2 | c.446-25T>C (n.446-25T>C) c.224-25T>C (n.224-25T>C) c.191-25T>C (n.191-25T>C) | dbSNP |
2 | g.31531499del | CA1242198364 | SRD5A2 | c.446-25del (n.446-25del) c.224-25del (n.224-25del) c.191-25del (n.191-25del) | dbSNP |
2 | g.31531499A= | CA1242198366 | SRD5A2 | c.446-27T= (n.446-27T=) c.224-27T= (n.224-27T=) c.191-27T= (n.191-27T=) | |
2 | g.31531499A>G | CA531712642 | SRD5A2 | c.446-27T>C (n.446-27T>C) c.224-27T>C (n.224-27T>C) c.191-27T>C (n.191-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531499A>T | CA531712639 | SRD5A2 | c.446-27T>A (n.446-27T>A) c.224-27T>A (n.224-27T>A) c.191-27T>A (n.191-27T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531499_31531500delinsAT | CA1242198365 | SRD5A2 | c.446-28_446-27delinsAT (n.446-28_446-27delinsAT) c.224-28_224-27delinsAT (n.224-28_224-27delinsAT) c.191-28_191-27delinsAT (n.191-28_191-27delinsAT) | |
2 | g.31531500T>A | CA2658498766 | SRD5A2 | c.446-28A>T (n.446-28A>T) c.224-28A>T (n.224-28A>T) c.191-28A>T (n.191-28A>T) | gnomAD v4 |
2 | g.31531500T>C | CA1599934 | SRD5A2 | c.446-28A>G (n.446-28A>G) c.224-28A>G (n.224-28A>G) c.191-28A>G (n.191-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531500T= | CA1242198367 | SRD5A2 | c.446-28A= (n.446-28A=) c.224-28A= (n.224-28A=) c.191-28A= (n.191-28A=) | |
2 | g.31531507dup | CA2658498765 | SRD5A2 | c.446-28dup (n.446-28dup) c.224-28dup (n.224-28dup) c.191-28dup (n.191-28dup) | gnomAD v4 |
2 | g.31531507del | CA1599933 | SRD5A2 | c.446-28del (n.446-28del) c.224-28del (n.224-28del) c.191-28del (n.191-28del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31531501T>A | CA2576929376 | SRD5A2 | c.446-29A>T (n.446-29A>T) c.224-29A>T (n.224-29A>T) c.191-29A>T (n.191-29A>T) | |
2 | g.31531501T>C | CA2839860480 | SRD5A2 | c.446-29A>G (n.446-29A>G) c.224-29A>G (n.224-29A>G) c.191-29A>G (n.191-29A>G) | |
2 | g.31531502T>G | CA2576929377 | SRD5A2 | c.446-30A>C (n.446-30A>C) c.224-30A>C (n.224-30A>C) c.191-30A>C (n.191-30A>C) | gnomAD v4 |
2 | g.31531503T>G | CA1599935 | SRD5A2 | c.446-31A>C (n.446-31A>C) c.224-31A>C (n.224-31A>C) c.191-31A>C (n.191-31A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31531503T= | CA1242198368 | SRD5A2 | c.446-31A= (n.446-31A=) c.224-31A= (n.224-31A=) c.191-31A= (n.191-31A=) | |
2 | g.31531504T>C | CA2658498767 | SRD5A2 | c.446-32A>G (n.446-32A>G) c.224-32A>G (n.224-32A>G) c.191-32A>G (n.191-32A>G) | gnomAD v4 |
2 | g.31531506T>G | CA531712653 | SRD5A2 | c.446-34A>C (n.446-34A>C) c.224-34A>C (n.224-34A>C) c.191-34A>C (n.191-34A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31531506T= | CA1242198369 | SRD5A2 | c.446-34A= (n.446-34A=) c.224-34A= (n.224-34A=) c.191-34A= (n.191-34A=) | |
2 | g.31531507T>A | CA45136528 | SRD5A2 | c.446-35A>T (n.446-35A>T) c.224-35A>T (n.224-35A>T) c.191-35A>T (n.191-35A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531507T= | CA1242198370 | SRD5A2 | c.446-35A= (n.446-35A=) c.224-35A= (n.224-35A=) c.191-35A= (n.191-35A=) | |
2 | g.31531508A= | CA1242198371 | SRD5A2 | c.446-36T= (n.446-36T=) c.224-36T= (n.224-36T=) c.191-36T= (n.191-36T=) | |
2 | g.31531508A>T | CA1599936 | SRD5A2 | c.446-36T>A (n.446-36T>A) c.224-36T>A (n.224-36T>A) c.191-36T>A (n.191-36T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531510dup | CA2658498768 | SRD5A2 | c.446-36dup (n.446-36dup) c.224-36dup (n.224-36dup) c.191-36dup (n.191-36dup) | gnomAD v4 |
2 | g.31531509A= | CA1242198372 | SRD5A2 | c.446-37T= (n.446-37T=) c.224-37T= (n.224-37T=) c.191-37T= (n.191-37T=) | |
2 | g.31531509A>C | CA1599937 | SRD5A2 | c.446-37T>G (n.446-37T>G) c.224-37T>G (n.224-37T>G) c.191-37T>G (n.191-37T>G) | dbSNP ExAC gnomAD v2 |
2 | g.31531509A>G | CA531712666 | SRD5A2 | c.446-37T>C (n.446-37T>C) c.224-37T>C (n.224-37T>C) c.191-37T>C (n.191-37T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531510A= | CA1242198373 | SRD5A2 | c.446-38T= (n.446-38T=) c.224-38T= (n.224-38T=) c.191-38T= (n.191-38T=) | |
2 | g.31531510A>G | CA531712669 | SRD5A2 | c.446-38T>C (n.446-38T>C) c.224-38T>C (n.224-38T>C) c.191-38T>C (n.191-38T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531511T>C | CA2658498769 | SRD5A2 | c.446-39A>G (n.446-39A>G) c.224-39A>G (n.224-39A>G) c.191-39A>G (n.191-39A>G) | gnomAD v4 |
2 | g.31531512G>T | CA2576929379 | SRD5A2 | c.446-40C>A (n.446-40C>A) c.224-40C>A (n.224-40C>A) c.191-40C>A (n.191-40C>A) | gnomAD v4 |
2 | g.31531514G>T | CA2576929380 | SRD5A2 | c.446-42C>A (n.446-42C>A) c.224-42C>A (n.224-42C>A) c.191-42C>A (n.191-42C>A) | gnomAD v4 |
2 | g.31531515T>A | CA224910 | SRD5A2 | c.446-43A>T (n.446-43A>T) c.224-43A>T (n.224-43A>T) c.191-43A>T (n.191-43A>T) | ClinVar dbSNP |
2 | g.31531515T= | CA1242198374 | SRD5A2 | c.446-43A= (n.446-43A=) c.224-43A= (n.224-43A=) c.191-43A= (n.191-43A=) | |
2 | g.31531516C>G | CA2658498770 | SRD5A2 | c.446-44G>C (n.446-44G>C) c.224-44G>C (n.224-44G>C) c.191-44G>C (n.191-44G>C) | gnomAD v4 |
2 | g.31531517del | CA2576929381 | SRD5A2 | c.446-44del (n.446-44del) c.224-44del (n.224-44del) c.191-44del (n.191-44del) | gnomAD v4 |
2 | g.31531517C>T | CA2658498771 | SRD5A2 | c.446-45G>A (n.446-45G>A) c.224-45G>A (n.224-45G>A) c.191-45G>A (n.191-45G>A) | gnomAD v4 |
2 | g.31531518A>G | CA2576929382 | SRD5A2 | c.446-46T>C (n.446-46T>C) c.224-46T>C (n.224-46T>C) c.191-46T>C (n.191-46T>C) | |
2 | g.31531519G>C | CA767760344 | SRD5A2 | c.446-47C>G (n.446-47C>G) c.224-47C>G (n.224-47C>G) c.191-47C>G (n.191-47C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531519G= | CA1242198375 | SRD5A2 | c.446-47C= (n.446-47C=) c.224-47C= (n.224-47C=) c.191-47C= (n.191-47C=) | |
2 | g.31531519G>T | CA45136529 | SRD5A2 | c.446-47C>A (n.446-47C>A) c.224-47C>A (n.224-47C>A) c.191-47C>A (n.191-47C>A) | dbSNP gnomAD v4 |
2 | g.31531520A>C | CA2658498772 | SRD5A2 | c.446-48T>G (n.446-48T>G) c.224-48T>G (n.224-48T>G) c.191-48T>G (n.191-48T>G) | gnomAD v4 |
2 | g.31531521T>C | CA2658498773 | SRD5A2 | c.446-49A>G (n.446-49A>G) c.224-49A>G (n.224-49A>G) c.191-49A>G (n.191-49A>G) | gnomAD v4 |
2 | g.31531523G>A | CA2658498774 | SRD5A2 | c.446-51C>T (n.446-51C>T) c.224-51C>T (n.224-51C>T) c.191-51C>T (n.191-51C>T) | gnomAD v4 |
2 | g.31531523G>T | CA2658498775 | SRD5A2 | c.446-51C>A (n.446-51C>A) c.224-51C>A (n.224-51C>A) c.191-51C>A (n.191-51C>A) | gnomAD v4 |
2 | g.31531525G>A | CA1028963508 | SRD5A2 | c.446-53C>T (n.446-53C>T) c.224-53C>T (n.224-53C>T) c.191-53C>T (n.191-53C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531525G= | CA1242198376 | SRD5A2 | c.446-53C= (n.446-53C=) c.224-53C= (n.224-53C=) c.191-53C= (n.191-53C=) | |
2 | g.31531525G>T | CA2658498776 | SRD5A2 | c.446-53C>A (n.446-53C>A) c.224-53C>A (n.224-53C>A) c.191-53C>A (n.191-53C>A) | gnomAD v4 |
2 | g.31531526G>C | CA2658498777 | SRD5A2 | c.446-54C>G (n.446-54C>G) c.224-54C>G (n.224-54C>G) c.191-54C>G (n.191-54C>G) | gnomAD v4 |
2 | g.31531526G>T | CA2658498778 | SRD5A2 | c.446-54C>A (n.446-54C>A) c.224-54C>A (n.224-54C>A) c.191-54C>A (n.191-54C>A) | gnomAD v4 |
2 | g.31531527T>C | CA2658498779 | SRD5A2 | c.446-55A>G (n.446-55A>G) c.224-55A>G (n.224-55A>G) c.191-55A>G (n.191-55A>G) | dbSNP gnomAD v4 |
2 | g.31531528G>A | CA2658498781 | SRD5A2 | c.446-56C>T (n.446-56C>T) c.224-56C>T (n.224-56C>T) c.191-56C>T (n.191-56C>T) | gnomAD v4 |
2 | g.31531528G>T | CA2658498780 | SRD5A2 | c.446-56C>A (n.446-56C>A) c.224-56C>A (n.224-56C>A) c.191-56C>A (n.191-56C>A) | gnomAD v4 |
2 | g.31531528_31531529delinsGC | CA1242198377 | SRD5A2 | c.446-57_446-56delinsGC (n.446-57_446-56delinsGC) c.224-57_224-56delinsGC (n.224-57_224-56delinsGC) c.191-57_191-56delinsGC (n.191-57_191-56delinsGC) | |
2 | g.31531529del | CA45136530 | SRD5A2 | c.446-57del (n.446-57del) c.224-57del (n.224-57del) c.191-57del (n.191-57del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531529C>A | CA914375480 | SRD5A2 | c.446-57G>T (n.446-57G>T) c.224-57G>T (n.224-57G>T) c.191-57G>T (n.191-57G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531529C= | CA1242198379 | SRD5A2 | c.446-57G= (n.446-57G=) c.224-57G= (n.224-57G=) c.191-57G= (n.191-57G=) | |
2 | g.31531529C>G | CA2658498782 | SRD5A2 | c.446-57G>C (n.446-57G>C) c.224-57G>C (n.224-57G>C) c.191-57G>C (n.191-57G>C) | gnomAD v4 |
2 | g.31531529C>T | CA767760348 | SRD5A2 | c.446-57G>A (n.446-57G>A) c.224-57G>A (n.224-57G>A) c.191-57G>A (n.191-57G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31531529_31531530delinsCT | CA1242198378 | SRD5A2 | c.446-58_446-57delinsAG (n.446-58_446-57delinsAG) c.224-58_224-57delinsAG (n.224-58_224-57delinsAG) c.191-58_191-57delinsAG (n.191-58_191-57delinsAG) | |
2 | g.31531530T>C | CA1242198381 | SRD5A2 | c.446-58A>G (n.446-58A>G) c.224-58A>G (n.224-58A>G) c.191-58A>G (n.191-58A>G) | dbSNP gnomAD v4 |
2 | g.31531530T>G | CA2658498783 | SRD5A2 | c.446-58A>C (n.446-58A>C) c.224-58A>C (n.224-58A>C) c.191-58A>C (n.191-58A>C) | gnomAD v4 |
2 | g.31531530T= | CA1242198380 | SRD5A2 | c.446-58A= (n.446-58A=) c.224-58A= (n.224-58A=) c.191-58A= (n.191-58A=) | |
2 | g.31531535dup | CA45136531 | SRD5A2 | c.446-58dup (n.446-58dup) c.224-58dup (n.224-58dup) c.191-58dup (n.191-58dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31531535del | CA767760364 | SRD5A2 | c.446-58del (n.446-58del) c.224-58del (n.224-58del) c.191-58del (n.191-58del) | dbSNP gnomAD v3 gnomAD v4 |