Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.24081286del | CA2624297819 | NRL | c.664del (p.Leu222Ter) c.247del (p.Leu83Ter) c.763del (p.Leu255Ter) c.448del (p.Leu150Ter) c.349del (p.Leu117Ter) c.970del (p.Leu324Ter) c.655del (p.Leu219Ter) | gnomAD v4 |
14 | g.24081286G>A | CA485775455 | NRL | c.664C>T (p.Leu222=) c.247C>T (p.Leu83=) c.763C>T (p.Leu255=) c.448C>T (p.Leu150=) c.349C>T (p.Leu117=) c.970C>T (p.Leu324=) c.655C>T (p.Leu219=) | gnomAD v4 |
14 | g.24081286G>C | CA389276305 | NRL | c.664C>G (p.Leu222Val) c.247C>G (p.Leu83Val) c.763C>G (p.Leu255Val) c.448C>G (p.Leu150Val) c.349C>G (p.Leu117Val) c.970C>G (p.Leu324Val) c.655C>G (p.Leu219Val) | |
14 | g.24081286G>T | CA389276311 | NRL | c.664C>A (p.Leu222Ile) c.247C>A (p.Leu83Ile) c.763C>A (p.Leu255Ile) c.448C>A (p.Leu150Ile) c.349C>A (p.Leu117Ile) c.970C>A (p.Leu324Ile) c.655C>A (p.Leu219Ile) | gnomAD v4 |
14 | g.24081287C>A | CA485775458 | NRL | c.663G>T (p.Arg221=) c.246G>T (p.Arg82=) c.762G>T (p.Arg254=) c.447G>T (p.Arg149=) c.348G>T (p.Arg116=) c.969G>T (p.Arg323=) c.654G>T (p.Arg218=) | gnomAD v4 |
14 | g.24081287C= | CA2123777271 | NRL | c.663G= (p.Arg221=) c.246G= (p.Arg82=) c.762G= (p.Arg254=) c.447G= (p.Arg149=) c.348G= (p.Arg116=) c.969G= (p.Arg323=) c.654G= (p.Arg218=) | |
14 | g.24081287C>G | CA485775456 | NRL | c.663G>C (p.Arg221=) c.246G>C (p.Arg82=) c.762G>C (p.Arg254=) c.447G>C (p.Arg149=) c.348G>C (p.Arg116=) c.969G>C (p.Arg323=) c.654G>C (p.Arg218=) | gnomAD v4 |
14 | g.24081287C>T | CA485775457 | NRL | c.663G>A (p.Arg221=) c.246G>A (p.Arg82=) c.762G>A (p.Arg254=) c.447G>A (p.Arg149=) c.348G>A (p.Arg116=) c.969G>A (p.Arg323=) c.654G>A (p.Arg218=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081288del | CA2624297822 | NRL | c.663del (p.Leu222Ter) c.246del (p.Leu83Ter) c.762del (p.Leu255Ter) c.447del (p.Leu150Ter) c.348del (p.Leu117Ter) c.969del (p.Leu324Ter) c.654del (p.Leu219Ter) | gnomAD v4 |
14 | g.24081288C>A | CA389276314 | NRL | c.662G>T (p.Arg221Leu) c.245G>T (p.Arg82Leu) c.761G>T (p.Arg254Leu) c.446G>T (p.Arg149Leu) c.347G>T (p.Arg116Leu) c.968G>T (p.Arg323Leu) c.653G>T (p.Arg218Leu) | gnomAD v4 |
14 | g.24081288C>G | CA389276318 | NRL | c.662G>C (p.Arg221Pro) c.245G>C (p.Arg82Pro) c.761G>C (p.Arg254Pro) c.446G>C (p.Arg149Pro) c.347G>C (p.Arg116Pro) c.968G>C (p.Arg323Pro) c.653G>C (p.Arg218Pro) | gnomAD v4 |
14 | g.24081288C>T | CA389276321 | NRL | c.662G>A (p.Arg221Gln) c.245G>A (p.Arg82Gln) c.761G>A (p.Arg254Gln) c.446G>A (p.Arg149Gln) c.347G>A (p.Arg116Gln) c.968G>A (p.Arg323Gln) c.653G>A (p.Arg218Gln) | gnomAD v4 |
14 | g.24081289G>A | CA389276337 | NRL | c.661C>T (p.Arg221Trp) c.244C>T (p.Arg82Trp) c.760C>T (p.Arg254Trp) c.445C>T (p.Arg149Trp) c.346C>T (p.Arg116Trp) c.967C>T (p.Arg323Trp) c.652C>T (p.Arg218Trp) | dbSNP gnomAD v4 |
14 | g.24081289G>C | CA389276335 | NRL | c.661C>G (p.Arg221Gly) c.244C>G (p.Arg82Gly) c.760C>G (p.Arg254Gly) c.445C>G (p.Arg149Gly) c.346C>G (p.Arg116Gly) c.967C>G (p.Arg323Gly) c.652C>G (p.Arg218Gly) | |
14 | g.24081289G= | CA2123777274 | NRL | c.661C= (p.Arg221=) c.244C= (p.Arg82=) c.760C= (p.Arg254=) c.445C= (p.Arg149=) c.346C= (p.Arg116=) c.967C= (p.Arg323=) c.652C= (p.Arg218=) | |
14 | g.24081289G>T | CA485775459 | NRL | c.661C>A (p.Arg221=) c.244C>A (p.Arg82=) c.760C>A (p.Arg254=) c.445C>A (p.Arg149=) c.346C>A (p.Arg116=) c.967C>A (p.Arg323=) c.652C>A (p.Arg218=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081290G>A | CA257868047 | NRL | c.660C>T (p.Asp220=) c.243C>T (p.Asp81=) c.759C>T (p.Asp253=) c.444C>T (p.Asp148=) c.345C>T (p.Asp115=) c.966C>T (p.Asp322=) c.651C>T (p.Asp217=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081290G>C | CA389276339 | NRL | c.660C>G (p.Asp220Glu) c.243C>G (p.Asp81Glu) c.759C>G (p.Asp253Glu) c.444C>G (p.Asp148Glu) c.345C>G (p.Asp115Glu) c.966C>G (p.Asp322Glu) c.651C>G (p.Asp217Glu) | |
14 | g.24081290G= | CA2123777276 | NRL | c.660C= (p.Asp220=) c.243C= (p.Asp81=) c.759C= (p.Asp253=) c.444C= (p.Asp148=) c.345C= (p.Asp115=) c.966C= (p.Asp322=) c.651C= (p.Asp217=) | |
14 | g.24081290G>T | CA389276341 | NRL | c.660C>A (p.Asp220Glu) c.243C>A (p.Asp81Glu) c.759C>A (p.Asp253Glu) c.444C>A (p.Asp148Glu) c.345C>A (p.Asp115Glu) c.966C>A (p.Asp322Glu) c.651C>A (p.Asp217Glu) | gnomAD v4 |
14 | g.24081291T>A | CA389276347 | NRL | c.659A>T (p.Asp220Val) c.242A>T (p.Asp81Val) c.758A>T (p.Asp253Val) c.443A>T (p.Asp148Val) c.344A>T (p.Asp115Val) c.965A>T (p.Asp322Val) c.650A>T (p.Asp217Val) | |
14 | g.24081291T>C | CA389276351 | NRL | c.659A>G (p.Asp220Gly) c.242A>G (p.Asp81Gly) c.758A>G (p.Asp253Gly) c.443A>G (p.Asp148Gly) c.344A>G (p.Asp115Gly) c.965A>G (p.Asp322Gly) c.650A>G (p.Asp217Gly) | gnomAD v4 |
14 | g.24081291T>G | CA389276354 | NRL | c.659A>C (p.Asp220Ala) c.242A>C (p.Asp81Ala) c.758A>C (p.Asp253Ala) c.443A>C (p.Asp148Ala) c.344A>C (p.Asp115Ala) c.965A>C (p.Asp322Ala) c.650A>C (p.Asp217Ala) | |
14 | g.24081292C>A | CA389276357 | NRL | c.658G>T (p.Asp220Tyr) c.241G>T (p.Asp81Tyr) c.757G>T (p.Asp253Tyr) c.442G>T (p.Asp148Tyr) c.343G>T (p.Asp115Tyr) c.964G>T (p.Asp322Tyr) c.649G>T (p.Asp217Tyr) | gnomAD v4 |
14 | g.24081292C= | CA2123777283 | NRL | c.658G= (p.Asp220=) c.241G= (p.Asp81=) c.757G= (p.Asp253=) c.442G= (p.Asp148=) c.343G= (p.Asp115=) c.964G= (p.Asp322=) c.649G= (p.Asp217=) | |
14 | g.24081292C>G | CA389276362 | NRL | c.658G>C (p.Asp220His) c.241G>C (p.Asp81His) c.757G>C (p.Asp253His) c.442G>C (p.Asp148His) c.343G>C (p.Asp115His) c.964G>C (p.Asp322His) c.649G>C (p.Asp217His) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081292C>T | CA389276366 | NRL | c.658G>A (p.Asp220Asn) c.241G>A (p.Asp81Asn) c.757G>A (p.Asp253Asn) c.442G>A (p.Asp148Asn) c.343G>A (p.Asp115Asn) c.964G>A (p.Asp322Asn) c.649G>A (p.Asp217Asn) | gnomAD v4 |
14 | g.24081293A= | CA2123777285 | NRL | c.657T= (p.Cys219=) c.240T= (p.Cys80=) c.756T= (p.Cys252=) c.441T= (p.Cys147=) c.342T= (p.Cys114=) c.963T= (p.Cys321=) c.648T= (p.Cys216=) | |
14 | g.24081293A>C | CA389276374 | NRL | c.657T>G (p.Cys219Trp) c.240T>G (p.Cys80Trp) c.756T>G (p.Cys252Trp) c.441T>G (p.Cys147Trp) c.342T>G (p.Cys114Trp) c.963T>G (p.Cys321Trp) c.648T>G (p.Cys216Trp) | |
14 | g.24081293A>G | CA485775460 | NRL | c.657T>C (p.Cys219=) c.240T>C (p.Cys80=) c.756T>C (p.Cys252=) c.441T>C (p.Cys147=) c.342T>C (p.Cys114=) c.963T>C (p.Cys321=) c.648T>C (p.Cys216=) | dbSNP gnomAD v4 |
14 | g.24081293A>T | CA389276382 | NRL | c.657T>A (p.Cys219Ter) c.240T>A (p.Cys80Ter) c.756T>A (p.Cys252Ter) c.441T>A (p.Cys147Ter) c.342T>A (p.Cys114Ter) c.963T>A (p.Cys321Ter) c.648T>A (p.Cys216Ter) | |
14 | g.24081294C>A | CA389276385 | NRL | c.656G>T (p.Cys219Phe) c.239G>T (p.Cys80Phe) c.755G>T (p.Cys252Phe) c.440G>T (p.Cys147Phe) c.341G>T (p.Cys114Phe) c.962G>T (p.Cys321Phe) c.647G>T (p.Cys216Phe) | gnomAD v4 |
14 | g.24081294C>G | CA389276388 | NRL | c.656G>C (p.Cys219Ser) c.239G>C (p.Cys80Ser) c.755G>C (p.Cys252Ser) c.440G>C (p.Cys147Ser) c.341G>C (p.Cys114Ser) c.962G>C (p.Cys321Ser) c.647G>C (p.Cys216Ser) | gnomAD v4 |
14 | g.24081294C>T | CA389276390 | NRL | c.656G>A (p.Cys219Tyr) c.239G>A (p.Cys80Tyr) c.755G>A (p.Cys252Tyr) c.440G>A (p.Cys147Tyr) c.341G>A (p.Cys114Tyr) c.962G>A (p.Cys321Tyr) c.647G>A (p.Cys216Tyr) | gnomAD v4 |
14 | g.24081294_24081295delinsCA | CA2123777292 | NRL | c.655_656delinsTG (p.Cys219=) c.238_239delinsTG (p.Cys80=) c.754_755delinsTG (p.Cys252=) c.439_440delinsTG (p.Cys147=) c.340_341delinsTG (p.Cys114=) c.961_962delinsTG (p.Cys321=) c.646_647delinsTG (p.Cys216=) | |
14 | g.24081295del | CA2123777296 | NRL | c.655del (p.Cys219ValfsTer4) c.238del (p.Cys80ValfsTer4) c.754del (p.Cys252ValfsTer4) c.439del (p.Cys147ValfsTer4) c.340del (p.Cys114ValfsTer4) c.961del (p.Cys321ValfsTer4) c.646del (p.Cys216ValfsTer4) | dbSNP |
14 | g.24081295A>C | CA389276399 | NRL | c.655T>G (p.Cys219Gly) c.238T>G (p.Cys80Gly) c.754T>G (p.Cys252Gly) c.439T>G (p.Cys147Gly) c.340T>G (p.Cys114Gly) c.961T>G (p.Cys321Gly) c.646T>G (p.Cys216Gly) | |
14 | g.24081295A>G | CA389276402 | NRL | c.655T>C (p.Cys219Arg) c.238T>C (p.Cys80Arg) c.754T>C (p.Cys252Arg) c.439T>C (p.Cys147Arg) c.340T>C (p.Cys114Arg) c.961T>C (p.Cys321Arg) c.646T>C (p.Cys216Arg) | gnomAD v4 |
14 | g.24081295A>T | CA389276396 | NRL | c.655T>A (p.Cys219Ser) c.238T>A (p.Cys80Ser) c.754T>A (p.Cys252Ser) c.439T>A (p.Cys147Ser) c.340T>A (p.Cys114Ser) c.961T>A (p.Cys321Ser) c.646T>A (p.Cys216Ser) | gnomAD v4 |
14 | g.24081295_24081296delinsAG | CA2123777295 | NRL | c.654_655delinsCT (p.Arg218=) c.237_238delinsCT (p.Arg79=) c.753_754delinsCT (p.Arg251=) c.438_439delinsCT (p.Arg146=) c.339_340delinsCT (p.Arg113=) c.960_961delinsCT (p.Arg320=) c.645_646delinsCT (p.Arg215=) | |
14 | g.24081296del | CA7122817 | NRL | c.654del (p.Cys219ValfsTer4) c.237del (p.Cys80ValfsTer4) c.753del (p.Cys252ValfsTer4) c.438del (p.Cys147ValfsTer4) c.339del (p.Cys114ValfsTer4) c.960del (p.Cys321ValfsTer4) c.645del (p.Cys216ValfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081296G>A | CA485775462 | NRL | c.654C>T (p.Arg218=) c.237C>T (p.Arg79=) c.753C>T (p.Arg251=) c.438C>T (p.Arg146=) c.339C>T (p.Arg113=) c.960C>T (p.Arg320=) c.645C>T (p.Arg215=) | gnomAD v4 |
14 | g.24081296G>C | CA257868048 | NRL | c.654C>G (p.Arg218=) c.237C>G (p.Arg79=) c.753C>G (p.Arg251=) c.438C>G (p.Arg146=) c.339C>G (p.Arg113=) c.960C>G (p.Arg320=) c.645C>G (p.Arg215=) | dbSNP |
14 | g.24081296G= | CA2123777307 | NRL | c.654C= (p.Arg218=) c.237C= (p.Arg79=) c.753C= (p.Arg251=) c.438C= (p.Arg146=) c.339C= (p.Arg113=) c.960C= (p.Arg320=) c.645C= (p.Arg215=) | |
14 | g.24081296G>T | CA485775461 | NRL | c.654C>A (p.Arg218=) c.237C>A (p.Arg79=) c.753C>A (p.Arg251=) c.438C>A (p.Arg146=) c.339C>A (p.Arg113=) c.960C>A (p.Arg320=) c.645C>A (p.Arg215=) | gnomAD v4 |
14 | g.24081297C>A | CA389276415 | NRL | c.653G>T (p.Arg218Leu) c.236G>T (p.Arg79Leu) c.752G>T (p.Arg251Leu) c.437G>T (p.Arg146Leu) c.338G>T (p.Arg113Leu) c.959G>T (p.Arg320Leu) c.644G>T (p.Arg215Leu) | gnomAD v4 |
14 | g.24081297C= | CA2123777310 | NRL | c.653G= (p.Arg218=) c.236G= (p.Arg79=) c.752G= (p.Arg251=) c.437G= (p.Arg146=) c.338G= (p.Arg113=) c.959G= (p.Arg320=) c.644G= (p.Arg215=) | |
14 | g.24081297C>G | CA389276417 | NRL | c.653G>C (p.Arg218Pro) c.236G>C (p.Arg79Pro) c.752G>C (p.Arg251Pro) c.437G>C (p.Arg146Pro) c.338G>C (p.Arg113Pro) c.959G>C (p.Arg320Pro) c.644G>C (p.Arg215Pro) | dbSNP gnomAD v4 |
14 | g.24081297C>T | CA389276431 | NRL | c.653G>A (p.Arg218His) c.236G>A (p.Arg79His) c.752G>A (p.Arg251His) c.437G>A (p.Arg146His) c.338G>A (p.Arg113His) c.959G>A (p.Arg320His) c.644G>A (p.Arg215His) | gnomAD v4 |
14 | g.24081298G>A | CA257868051 | NRL | c.652C>T (p.Arg218Cys) c.235C>T (p.Arg79Cys) c.751C>T (p.Arg251Cys) c.436C>T (p.Arg146Cys) c.337C>T (p.Arg113Cys) c.958C>T (p.Arg320Cys) c.643C>T (p.Arg215Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081298G>C | CA389276446 | NRL | c.652C>G (p.Arg218Gly) c.235C>G (p.Arg79Gly) c.751C>G (p.Arg251Gly) c.436C>G (p.Arg146Gly) c.337C>G (p.Arg113Gly) c.958C>G (p.Arg320Gly) c.643C>G (p.Arg215Gly) | |
14 | g.24081298G= | CA2123777315 | NRL | c.652C= (p.Arg218=) c.235C= (p.Arg79=) c.751C= (p.Arg251=) c.436C= (p.Arg146=) c.337C= (p.Arg113=) c.958C= (p.Arg320=) c.643C= (p.Arg215=) | |
14 | g.24081298G>T | CA389276448 | NRL | c.652C>A (p.Arg218Ser) c.235C>A (p.Arg79Ser) c.751C>A (p.Arg251Ser) c.436C>A (p.Arg146Ser) c.337C>A (p.Arg113Ser) c.958C>A (p.Arg320Ser) c.643C>A (p.Arg215Ser) | gnomAD v4 |
14 | g.24081299A>C | CA485775463 | NRL | c.651T>G (p.Ala217=) c.234T>G (p.Ala78=) c.750T>G (p.Ala250=) c.435T>G (p.Ala145=) c.336T>G (p.Ala112=) c.957T>G (p.Ala319=) c.642T>G (p.Ala214=) | |
14 | g.24081299A>G | CA485775464 | NRL | c.651T>C (p.Ala217=) c.234T>C (p.Ala78=) c.750T>C (p.Ala250=) c.435T>C (p.Ala145=) c.336T>C (p.Ala112=) c.957T>C (p.Ala319=) c.642T>C (p.Ala214=) | gnomAD v4 |
14 | g.24081299A>T | CA485775465 | NRL | c.651T>A (p.Ala217=) c.234T>A (p.Ala78=) c.750T>A (p.Ala250=) c.435T>A (p.Ala145=) c.336T>A (p.Ala112=) c.957T>A (p.Ala319=) c.642T>A (p.Ala214=) | |
14 | g.24081300G>A | CA389276451 | NRL | c.650C>T (p.Ala217Val) c.233C>T (p.Ala78Val) c.749C>T (p.Ala250Val) c.434C>T (p.Ala145Val) c.335C>T (p.Ala112Val) c.956C>T (p.Ala319Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
14 | g.24081300G>C | CA389276453 | NRL | c.650C>G (p.Ala217Gly) c.233C>G (p.Ala78Gly) c.749C>G (p.Ala250Gly) c.434C>G (p.Ala145Gly) c.335C>G (p.Ala112Gly) c.956C>G (p.Ala319Gly) c.641C>G (p.Ala214Gly) | |
14 | g.24081300G>T | CA389276477 | NRL | c.650C>A (p.Ala217Asp) c.233C>A (p.Ala78Asp) c.749C>A (p.Ala250Asp) c.434C>A (p.Ala145Asp) c.335C>A (p.Ala112Asp) c.956C>A (p.Ala319Asp) c.641C>A (p.Ala214Asp) | gnomAD v4 |
14 | g.24081301C>A | CA389276483 | NRL | c.649G>T (p.Ala217Ser) c.232G>T (p.Ala78Ser) c.748G>T (p.Ala250Ser) c.433G>T (p.Ala145Ser) c.334G>T (p.Ala112Ser) c.955G>T (p.Ala319Ser) c.640G>T (p.Ala214Ser) | gnomAD v4 |
14 | g.24081301C= | CA2123777319 | NRL | c.649G= (p.Ala217=) c.232G= (p.Ala78=) c.748G= (p.Ala250=) c.433G= (p.Ala145=) c.334G= (p.Ala112=) c.955G= (p.Ala319=) c.640G= (p.Ala214=) | |
14 | g.24081301C>G | CA389276488 | NRL | c.649G>C (p.Ala217Pro) c.232G>C (p.Ala78Pro) c.748G>C (p.Ala250Pro) c.433G>C (p.Ala145Pro) c.334G>C (p.Ala112Pro) c.955G>C (p.Ala319Pro) c.640G>C (p.Ala214Pro) | |
14 | g.24081301C>T | CA389276490 | NRL | c.649G>A (p.Ala217Thr) c.232G>A (p.Ala78Thr) c.748G>A (p.Ala250Thr) c.433G>A (p.Ala145Thr) c.334G>A (p.Ala112Thr) c.955G>A (p.Ala319Thr) c.640G>A (p.Ala214Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081302C>A | CA389276513 | NRL | c.648G>T (p.Lys216Asn) c.231G>T (p.Lys77Asn) c.747G>T (p.Lys249Asn) c.432G>T (p.Lys144Asn) c.333G>T (p.Lys111Asn) c.954G>T (p.Lys318Asn) c.639G>T (p.Lys213Asn) | gnomAD v4 |
14 | g.24081302C>G | CA389276515 | NRL | c.648G>C (p.Lys216Asn) c.231G>C (p.Lys77Asn) c.747G>C (p.Lys249Asn) c.432G>C (p.Lys144Asn) c.333G>C (p.Lys111Asn) c.954G>C (p.Lys318Asn) c.639G>C (p.Lys213Asn) | |
14 | g.24081302C>T | CA485775466 | NRL | c.648G>A (p.Lys216=) c.231G>A (p.Lys77=) c.747G>A (p.Lys249=) c.432G>A (p.Lys144=) c.333G>A (p.Lys111=) c.954G>A (p.Lys318=) c.639G>A (p.Lys213=) | |
14 | g.24081303T>A | CA389276516 | NRL | c.647A>T (p.Lys216Met) c.230A>T (p.Lys77Met) c.746A>T (p.Lys249Met) c.431A>T (p.Lys144Met) c.332A>T (p.Lys111Met) c.953A>T (p.Lys318Met) c.638A>T (p.Lys213Met) | gnomAD v4 |
14 | g.24081303T>C | CA389276518 | NRL | c.647A>G (p.Lys216Arg) c.230A>G (p.Lys77Arg) c.746A>G (p.Lys249Arg) c.431A>G (p.Lys144Arg) c.332A>G (p.Lys111Arg) c.953A>G (p.Lys318Arg) c.638A>G (p.Lys213Arg) | dbSNP gnomAD v4 |
14 | g.24081303T>G | CA389276517 | NRL | c.647A>C (p.Lys216Thr) c.230A>C (p.Lys77Thr) c.746A>C (p.Lys249Thr) c.431A>C (p.Lys144Thr) c.332A>C (p.Lys111Thr) c.953A>C (p.Lys318Thr) c.638A>C (p.Lys213Thr) | dbSNP |
14 | g.24081303T= | CA2123777320 | NRL | c.647A= (p.Lys216=) c.230A= (p.Lys77=) c.746A= (p.Lys249=) c.431A= (p.Lys144=) c.332A= (p.Lys111=) c.953A= (p.Lys318=) c.638A= (p.Lys213=) | |
14 | g.24081304T>A | CA389276519 | NRL | c.646A>T (p.Lys216Ter) c.229A>T (p.Lys77Ter) c.745A>T (p.Lys249Ter) c.430A>T (p.Lys144Ter) c.331A>T (p.Lys111Ter) c.952A>T (p.Lys318Ter) c.637A>T (p.Lys213Ter) | |
14 | g.24081304T>C | CA389276522 | NRL | c.646A>G (p.Lys216Glu) c.229A>G (p.Lys77Glu) c.745A>G (p.Lys249Glu) c.430A>G (p.Lys144Glu) c.331A>G (p.Lys111Glu) c.952A>G (p.Lys318Glu) c.637A>G (p.Lys213Glu) | gnomAD v4 |
14 | g.24081304T>G | CA389276520 | NRL | c.646A>C (p.Lys216Gln) c.229A>C (p.Lys77Gln) c.745A>C (p.Lys249Gln) c.430A>C (p.Lys144Gln) c.331A>C (p.Lys111Gln) c.952A>C (p.Lys318Gln) c.637A>C (p.Lys213Gln) | |
14 | g.24081305G>A | CA257868054 | NRL | c.645C>T (p.Tyr215=) c.228C>T (p.Tyr76=) c.744C>T (p.Tyr248=) c.429C>T (p.Tyr143=) c.330C>T (p.Tyr110=) c.951C>T (p.Tyr317=) c.636C>T (p.Tyr212=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081305G>C | CA389276523 | NRL | c.645C>G (p.Tyr215Ter) c.228C>G (p.Tyr76Ter) c.744C>G (p.Tyr248Ter) c.429C>G (p.Tyr143Ter) c.330C>G (p.Tyr110Ter) c.951C>G (p.Tyr317Ter) c.636C>G (p.Tyr212Ter) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081305G= | CA2123777324 | NRL | c.645C= (p.Tyr215=) c.228C= (p.Tyr76=) c.744C= (p.Tyr248=) c.429C= (p.Tyr143=) c.330C= (p.Tyr110=) c.951C= (p.Tyr317=) c.636C= (p.Tyr212=) | |
14 | g.24081305G>T | CA389276524 | NRL | c.645C>A (p.Tyr215Ter) c.228C>A (p.Tyr76Ter) c.744C>A (p.Tyr248Ter) c.429C>A (p.Tyr143Ter) c.330C>A (p.Tyr110Ter) c.951C>A (p.Tyr317Ter) c.636C>A (p.Tyr212Ter) | gnomAD v4 |
14 | g.24081306T>A | CA389276525 | NRL | c.644A>T (p.Tyr215Phe) c.227A>T (p.Tyr76Phe) c.743A>T (p.Tyr248Phe) c.428A>T (p.Tyr143Phe) c.329A>T (p.Tyr110Phe) c.950A>T (p.Tyr317Phe) c.635A>T (p.Tyr212Phe) | gnomAD v4 |
14 | g.24081306T>C | CA389276527 | NRL | c.644A>G (p.Tyr215Cys) c.227A>G (p.Tyr76Cys) c.743A>G (p.Tyr248Cys) c.428A>G (p.Tyr143Cys) c.329A>G (p.Tyr110Cys) c.950A>G (p.Tyr317Cys) c.635A>G (p.Tyr212Cys) | gnomAD v4 |
14 | g.24081306T>G | CA389276526 | NRL | c.644A>C (p.Tyr215Ser) c.227A>C (p.Tyr76Ser) c.743A>C (p.Tyr248Ser) c.428A>C (p.Tyr143Ser) c.329A>C (p.Tyr110Ser) c.950A>C (p.Tyr317Ser) c.635A>C (p.Tyr212Ser) | |
14 | g.24081307A>C | CA389276532 | NRL | c.643T>G (p.Tyr215Asp) c.226T>G (p.Tyr76Asp) c.742T>G (p.Tyr248Asp) c.427T>G (p.Tyr143Asp) c.328T>G (p.Tyr110Asp) c.949T>G (p.Tyr317Asp) c.634T>G (p.Tyr212Asp) | |
14 | g.24081307A>G | CA389276552 | NRL | c.643T>C (p.Tyr215His) c.226T>C (p.Tyr76His) c.742T>C (p.Tyr248His) c.427T>C (p.Tyr143His) c.328T>C (p.Tyr110His) c.949T>C (p.Tyr317His) c.634T>C (p.Tyr212His) | gnomAD v4 |
14 | g.24081307A>T | CA389276535 | NRL | c.643T>A (p.Tyr215Asn) c.226T>A (p.Tyr76Asn) c.742T>A (p.Tyr248Asn) c.427T>A (p.Tyr143Asn) c.328T>A (p.Tyr110Asn) c.949T>A (p.Tyr317Asn) c.634T>A (p.Tyr212Asn) | |
14 | g.24081308G>A | CA485775581 | NRL | c.642C>T (p.Leu214=) c.225C>T (p.Leu75=) c.741C>T (p.Leu247=) c.426C>T (p.Leu142=) c.327C>T (p.Leu109=) c.948C>T (p.Leu316=) c.633C>T (p.Leu211=) | |
14 | g.24081308G>C | CA485775584 | NRL | c.642C>G (p.Leu214=) c.225C>G (p.Leu75=) c.741C>G (p.Leu247=) c.426C>G (p.Leu142=) c.327C>G (p.Leu109=) c.948C>G (p.Leu316=) c.633C>G (p.Leu211=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081308G= | CA2123777331 | NRL | c.642C= (p.Leu214=) c.225C= (p.Leu75=) c.741C= (p.Leu247=) c.426C= (p.Leu142=) c.327C= (p.Leu109=) c.948C= (p.Leu316=) c.633C= (p.Leu211=) | |
14 | g.24081308G>T | CA485775585 | NRL | c.642C>A (p.Leu214=) c.225C>A (p.Leu75=) c.741C>A (p.Leu247=) c.426C>A (p.Leu142=) c.327C>A (p.Leu109=) c.948C>A (p.Leu316=) c.633C>A (p.Leu211=) | |
14 | g.24081309A>C | CA389276557 | NRL | c.641T>G (p.Leu214Arg) c.224T>G (p.Leu75Arg) c.740T>G (p.Leu247Arg) c.425T>G (p.Leu142Arg) c.326T>G (p.Leu109Arg) c.947T>G (p.Leu316Arg) c.632T>G (p.Leu211Arg) | |
14 | g.24081309A>G | CA389276559 | NRL | c.641T>C (p.Leu214Pro) c.224T>C (p.Leu75Pro) c.740T>C (p.Leu247Pro) c.425T>C (p.Leu142Pro) c.326T>C (p.Leu109Pro) c.947T>C (p.Leu316Pro) c.632T>C (p.Leu211Pro) | gnomAD v4 |
14 | g.24081309A>T | CA389276558 | NRL | c.641T>A (p.Leu214His) c.224T>A (p.Leu75His) c.740T>A (p.Leu247His) c.425T>A (p.Leu142His) c.326T>A (p.Leu109His) c.947T>A (p.Leu316His) c.632T>A (p.Leu211His) | |
14 | g.24081310G>A | CA389276564 | NRL | c.640C>T (p.Leu214Phe) c.223C>T (p.Leu75Phe) c.739C>T (p.Leu247Phe) c.424C>T (p.Leu142Phe) c.325C>T (p.Leu109Phe) c.946C>T (p.Leu316Phe) c.631C>T (p.Leu211Phe) | gnomAD v4 |
14 | g.24081310G>C | CA389276570 | NRL | c.640C>G (p.Leu214Val) c.223C>G (p.Leu75Val) c.739C>G (p.Leu247Val) c.424C>G (p.Leu142Val) c.325C>G (p.Leu109Val) c.946C>G (p.Leu316Val) c.631C>G (p.Leu211Val) | |
14 | g.24081310G= | CA2123777335 | NRL | c.640C= (p.Leu214=) c.223C= (p.Leu75=) c.739C= (p.Leu247=) c.424C= (p.Leu142=) c.325C= (p.Leu109=) c.946C= (p.Leu316=) c.631C= (p.Leu211=) | |
14 | g.24081310G>T | CA389276567 | NRL | c.640C>A (p.Leu214Ile) c.223C>A (p.Leu75Ile) c.739C>A (p.Leu247Ile) c.424C>A (p.Leu142Ile) c.325C>A (p.Leu109Ile) c.946C>A (p.Leu316Ile) c.631C>A (p.Leu211Ile) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081311A= | CA2123777339 | NRL | c.639T= (p.Asp213=) c.222T= (p.Asp74=) c.738T= (p.Asp246=) c.423T= (p.Asp141=) c.324T= (p.Asp108=) c.945T= (p.Asp315=) c.630T= (p.Asp210=) | |
14 | g.24081311A>C | CA389276589 | NRL | c.639T>G (p.Asp213Glu) c.222T>G (p.Asp74Glu) c.738T>G (p.Asp246Glu) c.423T>G (p.Asp141Glu) c.324T>G (p.Asp108Glu) c.945T>G (p.Asp315Glu) c.630T>G (p.Asp210Glu) | |
14 | g.24081311A>G | CA485775592 | NRL | c.639T>C (p.Asp213=) c.222T>C (p.Asp74=) c.738T>C (p.Asp246=) c.423T>C (p.Asp141=) c.324T>C (p.Asp108=) c.945T>C (p.Asp315=) c.630T>C (p.Asp210=) | dbSNP gnomAD v4 |
14 | g.24081311A>T | CA389276593 | NRL | c.639T>A (p.Asp213Glu) c.222T>A (p.Asp74Glu) c.738T>A (p.Asp246Glu) c.423T>A (p.Asp141Glu) c.324T>A (p.Asp108Glu) c.945T>A (p.Asp315Glu) c.630T>A (p.Asp210Glu) | |
14 | g.24081312T>A | CA389276597 | NRL | c.638A>T (p.Asp213Val) c.221A>T (p.Asp74Val) c.737A>T (p.Asp246Val) c.422A>T (p.Asp141Val) c.323A>T (p.Asp108Val) c.944A>T (p.Asp315Val) c.629A>T (p.Asp210Val) | |
14 | g.24081312T>C | CA389276602 | NRL | c.638A>G (p.Asp213Gly) c.221A>G (p.Asp74Gly) c.737A>G (p.Asp246Gly) c.422A>G (p.Asp141Gly) c.323A>G (p.Asp108Gly) c.944A>G (p.Asp315Gly) c.629A>G (p.Asp210Gly) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081312T>G | CA389276607 | NRL | c.638A>C (p.Asp213Ala) c.221A>C (p.Asp74Ala) c.737A>C (p.Asp246Ala) c.422A>C (p.Asp141Ala) c.323A>C (p.Asp108Ala) c.944A>C (p.Asp315Ala) c.629A>C (p.Asp210Ala) | |
14 | g.24081312T= | CA2123777343 | NRL | c.638A= (p.Asp213=) c.221A= (p.Asp74=) c.737A= (p.Asp246=) c.422A= (p.Asp141=) c.323A= (p.Asp108=) c.944A= (p.Asp315=) c.629A= (p.Asp210=) | |
14 | g.24081313C>A | CA389276611 | NRL | c.637G>T (p.Asp213Tyr) c.220G>T (p.Asp74Tyr) c.736G>T (p.Asp246Tyr) c.421G>T (p.Asp141Tyr) c.322G>T (p.Asp108Tyr) c.943G>T (p.Asp315Tyr) c.628G>T (p.Asp210Tyr) | gnomAD v4 |
14 | g.24081313C>G | CA389276615 | NRL | c.637G>C (p.Asp213His) c.220G>C (p.Asp74His) c.736G>C (p.Asp246His) c.421G>C (p.Asp141His) c.322G>C (p.Asp108His) c.943G>C (p.Asp315His) c.628G>C (p.Asp210His) | |
14 | g.24081313C>T | CA389276617 | NRL | c.637G>A (p.Asp213Asn) c.220G>A (p.Asp74Asn) c.736G>A (p.Asp246Asn) c.421G>A (p.Asp141Asn) c.322G>A (p.Asp108Asn) c.943G>A (p.Asp315Asn) c.628G>A (p.Asp210Asn) | gnomAD v4 |
14 | g.24081314G>A | CA485775600 | NRL | c.636C>T (p.Arg212=) c.219C>T (p.Arg73=) c.735C>T (p.Arg245=) c.420C>T (p.Arg140=) c.321C>T (p.Arg107=) c.942C>T (p.Arg314=) c.627C>T (p.Arg209=) | gnomAD v4 |
14 | g.24081314G>C | CA485775598 | NRL | c.636C>G (p.Arg212=) c.219C>G (p.Arg73=) c.735C>G (p.Arg245=) c.420C>G (p.Arg140=) c.321C>G (p.Arg107=) c.942C>G (p.Arg314=) c.627C>G (p.Arg209=) | gnomAD v4 |
14 | g.24081314G>T | CA485775599 | NRL | c.636C>A (p.Arg212=) c.219C>A (p.Arg73=) c.735C>A (p.Arg245=) c.420C>A (p.Arg140=) c.321C>A (p.Arg107=) c.942C>A (p.Arg314=) c.627C>A (p.Arg209=) | gnomAD v4 |
14 | g.24081315C>A | CA389276620 | NRL | c.635G>T (p.Arg212Leu) c.218G>T (p.Arg73Leu) c.734G>T (p.Arg245Leu) c.419G>T (p.Arg140Leu) c.320G>T (p.Arg107Leu) c.941G>T (p.Arg314Leu) c.626G>T (p.Arg209Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081315C= | CA2123777351 | NRL | c.635G= (p.Arg212=) c.218G= (p.Arg73=) c.734G= (p.Arg245=) c.419G= (p.Arg140=) c.320G= (p.Arg107=) c.941G= (p.Arg314=) c.626G= (p.Arg209=) | |
14 | g.24081315C>G | CA389276624 | NRL | c.635G>C (p.Arg212Pro) c.218G>C (p.Arg73Pro) c.734G>C (p.Arg245Pro) c.419G>C (p.Arg140Pro) c.320G>C (p.Arg107Pro) c.941G>C (p.Arg314Pro) c.626G>C (p.Arg209Pro) | |
14 | g.24081315C>T | CA389276628 | NRL | c.635G>A (p.Arg212His) c.218G>A (p.Arg73His) c.734G>A (p.Arg245His) c.419G>A (p.Arg140His) c.320G>A (p.Arg107His) c.941G>A (p.Arg314His) c.626G>A (p.Arg209His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081316G>A | CA389276638 | NRL | c.634C>T (p.Arg212Cys) c.217C>T (p.Arg73Cys) c.733C>T (p.Arg245Cys) c.418C>T (p.Arg140Cys) c.319C>T (p.Arg107Cys) c.940C>T (p.Arg314Cys) c.625C>T (p.Arg209Cys) | gnomAD v4 |
14 | g.24081316G>C | CA389276636 | NRL | c.634C>G (p.Arg212Gly) c.217C>G (p.Arg73Gly) c.733C>G (p.Arg245Gly) c.418C>G (p.Arg140Gly) c.319C>G (p.Arg107Gly) c.940C>G (p.Arg314Gly) c.625C>G (p.Arg209Gly) | |
14 | g.24081316G>T | CA389276637 | NRL | c.634C>A (p.Arg212Ser) c.217C>A (p.Arg73Ser) c.733C>A (p.Arg245Ser) c.418C>A (p.Arg140Ser) c.319C>A (p.Arg107Ser) c.940C>A (p.Arg314Ser) c.625C>A (p.Arg209Ser) | gnomAD v4 |
14 | g.24081317C>A | CA389276639 | NRL | c.633G>T (p.Glu211Asp) c.216G>T (p.Glu72Asp) c.732G>T (p.Glu244Asp) c.417G>T (p.Glu139Asp) c.318G>T (p.Glu106Asp) c.939G>T (p.Glu313Asp) c.624G>T (p.Glu208Asp) | gnomAD v4 |
14 | g.24081317C>G | CA389276640 | NRL | c.633G>C (p.Glu211Asp) c.216G>C (p.Glu72Asp) c.732G>C (p.Glu244Asp) c.417G>C (p.Glu139Asp) c.318G>C (p.Glu106Asp) c.939G>C (p.Glu313Asp) c.624G>C (p.Glu208Asp) | gnomAD v4 |
14 | g.24081317C>T | CA485775605 | NRL | c.633G>A (p.Glu211=) c.216G>A (p.Glu72=) c.732G>A (p.Glu244=) c.417G>A (p.Glu139=) c.318G>A (p.Glu106=) c.939G>A (p.Glu313=) c.624G>A (p.Glu208=) | |
14 | g.24081318T>A | CA389276641 | NRL | c.632A>T (p.Glu211Val) c.215A>T (p.Glu72Val) c.731A>T (p.Glu244Val) c.416A>T (p.Glu139Val) c.317A>T (p.Glu106Val) c.938A>T (p.Glu313Val) c.623A>T (p.Glu208Val) | |
14 | g.24081318T>C | CA389276644 | NRL | c.632A>G (p.Glu211Gly) c.215A>G (p.Glu72Gly) c.731A>G (p.Glu244Gly) c.416A>G (p.Glu139Gly) c.317A>G (p.Glu106Gly) c.938A>G (p.Glu313Gly) c.623A>G (p.Glu208Gly) | gnomAD v4 |
14 | g.24081318T>G | CA389276653 | NRL | c.632A>C (p.Glu211Ala) c.215A>C (p.Glu72Ala) c.731A>C (p.Glu244Ala) c.416A>C (p.Glu139Ala) c.317A>C (p.Glu106Ala) c.938A>C (p.Glu313Ala) c.623A>C (p.Glu208Ala) | |
14 | g.24081319C>A | CA389276659 | NRL | c.631G>T (p.Glu211Ter) c.214G>T (p.Glu72Ter) c.730G>T (p.Glu244Ter) c.415G>T (p.Glu139Ter) c.316G>T (p.Glu106Ter) c.937G>T (p.Glu313Ter) c.622G>T (p.Glu208Ter) | gnomAD v4 |
14 | g.24081319C>G | CA389276664 | NRL | c.631G>C (p.Glu211Gln) c.214G>C (p.Glu72Gln) c.730G>C (p.Glu244Gln) c.415G>C (p.Glu139Gln) c.316G>C (p.Glu106Gln) c.937G>C (p.Glu313Gln) c.622G>C (p.Glu208Gln) | |
14 | g.24081319C>T | CA389276667 | NRL | c.631G>A (p.Glu211Lys) c.214G>A (p.Glu72Lys) c.730G>A (p.Glu244Lys) c.415G>A (p.Glu139Lys) c.316G>A (p.Glu106Lys) c.937G>A (p.Glu313Lys) c.622G>A (p.Glu208Lys) | gnomAD v4 |
14 | g.24081321del | CA2624297988 | NRL | c.631del (p.Glu211SerfsTer12) c.214del (p.Glu72SerfsTer12) c.730del (p.Glu244SerfsTer12) c.415del (p.Glu139SerfsTer12) c.316del (p.Glu106SerfsTer12) c.937del (p.Glu313SerfsTer12) c.622del (p.Glu208SerfsTer12) | gnomAD v4 |
14 | g.24081320C>A | CA485775615 | NRL | c.630G>T (p.Arg210=) c.213G>T (p.Arg71=) c.729G>T (p.Arg243=) c.414G>T (p.Arg138=) c.315G>T (p.Arg105=) c.936G>T (p.Arg312=) c.621G>T (p.Arg207=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081320C= | CA2123777354 | NRL | c.630G= (p.Arg210=) c.213G= (p.Arg71=) c.729G= (p.Arg243=) c.414G= (p.Arg138=) c.315G= (p.Arg105=) c.936G= (p.Arg312=) c.621G= (p.Arg207=) | |
14 | g.24081320C>G | CA485775617 | NRL | c.630G>C (p.Arg210=) c.213G>C (p.Arg71=) c.729G>C (p.Arg243=) c.414G>C (p.Arg138=) c.315G>C (p.Arg105=) c.936G>C (p.Arg312=) c.621G>C (p.Arg207=) | |
14 | g.24081320C>T | CA485775616 | NRL | c.630G>A (p.Arg210=) c.213G>A (p.Arg71=) c.729G>A (p.Arg243=) c.414G>A (p.Arg138=) c.315G>A (p.Arg105=) c.936G>A (p.Arg312=) c.621G>A (p.Arg207=) | gnomAD v4 |
14 | g.24081321C>A | CA389276672 | NRL | c.629G>T (p.Arg210Leu) c.212G>T (p.Arg71Leu) c.728G>T (p.Arg243Leu) c.413G>T (p.Arg138Leu) c.314G>T (p.Arg105Leu) c.935G>T (p.Arg312Leu) c.620G>T (p.Arg207Leu) | gnomAD v4 |
14 | g.24081321C>G | CA389276699 | NRL | c.629G>C (p.Arg210Pro) c.212G>C (p.Arg71Pro) c.728G>C (p.Arg243Pro) c.413G>C (p.Arg138Pro) c.314G>C (p.Arg105Pro) c.935G>C (p.Arg312Pro) c.620G>C (p.Arg207Pro) | gnomAD v4 |
14 | g.24081321C>T | CA389276705 | NRL | c.629G>A (p.Arg210Gln) c.212G>A (p.Arg71Gln) c.728G>A (p.Arg243Gln) c.413G>A (p.Arg138Gln) c.314G>A (p.Arg105Gln) c.935G>A (p.Arg312Gln) c.620G>A (p.Arg207Gln) | gnomAD v4 |
14 | g.24081322G>A | CA389276714 | NRL | c.628C>T (p.Arg210Trp) c.211C>T (p.Arg71Trp) c.727C>T (p.Arg243Trp) c.412C>T (p.Arg138Trp) c.313C>T (p.Arg105Trp) c.934C>T (p.Arg312Trp) c.619C>T (p.Arg207Trp) | dbSNP gnomAD v4 |
14 | g.24081322G>C | CA389276716 | NRL | c.628C>G (p.Arg210Gly) c.211C>G (p.Arg71Gly) c.727C>G (p.Arg243Gly) c.412C>G (p.Arg138Gly) c.313C>G (p.Arg105Gly) c.934C>G (p.Arg312Gly) c.619C>G (p.Arg207Gly) | ClinVar dbSNP gnomAD v4 |
14 | g.24081322G= | CA2123777358 | NRL | c.628C= (p.Arg210=) c.211C= (p.Arg71=) c.727C= (p.Arg243=) c.412C= (p.Arg138=) c.313C= (p.Arg105=) c.934C= (p.Arg312=) c.619C= (p.Arg207=) | |
14 | g.24081322G>T | CA485775620 | NRL | c.628C>A (p.Arg210=) c.211C>A (p.Arg71=) c.727C>A (p.Arg243=) c.412C>A (p.Arg138=) c.313C>A (p.Arg105=) c.934C>A (p.Arg312=) c.619C>A (p.Arg207=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081322_24081363del | CA2624298000 | NRL | c.587_628del (p.Ala196_Arg210delinsGly) c.170_211del (p.Ala57_Arg71delinsGly) c.686_727del (p.Ala229_Arg243delinsGly) c.371_412del (p.Ala124_Arg138delinsGly) c.272_313del (p.Ala91_Arg105delinsGly) c.893_934del (p.Ala298_Arg312delinsGly) c.578_619del (p.Ala193_Arg207delinsGly) | gnomAD v4 |
14 | g.24081323G>A | CA485775622 | NRL | c.627C>T (p.Ala209=) c.210C>T (p.Ala70=) c.726C>T (p.Ala242=) c.411C>T (p.Ala137=) c.312C>T (p.Ala104=) c.933C>T (p.Ala311=) c.618C>T (p.Ala206=) | gnomAD v4 |
14 | g.24081323G>C | CA485775625 | NRL | c.627C>G (p.Ala209=) c.210C>G (p.Ala70=) c.726C>G (p.Ala242=) c.411C>G (p.Ala137=) c.312C>G (p.Ala104=) c.933C>G (p.Ala311=) c.618C>G (p.Ala206=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081323G= | CA2123777369 | NRL | c.627C= (p.Ala209=) c.210C= (p.Ala70=) c.726C= (p.Ala242=) c.411C= (p.Ala137=) c.312C= (p.Ala104=) c.933C= (p.Ala311=) c.618C= (p.Ala206=) | |
14 | g.24081323G>T | CA485775627 | NRL | c.627C>A (p.Ala209=) c.210C>A (p.Ala70=) c.726C>A (p.Ala242=) c.411C>A (p.Ala137=) c.312C>A (p.Ala104=) c.933C>A (p.Ala311=) c.618C>A (p.Ala206=) | |
14 | g.24081335_24081376dup | CA10581692 | NRL | c.586_627dup (p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.169_210dup (p.Ala70_Arg71insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.685_726dup (p.Ala242_Arg243insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.370_411dup (p.Ala137_Arg138insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.271_312dup (p.Ala104_Arg105insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.892_933dup (p.Ala311_Arg312insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.577_618dup (p.Ala206_Arg207insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) | ClinVar dbSNP |
14 | g.24081335_24081376del | CA2624298015 | NRL | c.586_627del (p.Ala196_Ala209del) c.169_210del (p.Ala57_Ala70del) c.685_726del (p.Ala229_Ala242del) c.370_411del (p.Ala124_Ala137del) c.271_312del (p.Ala91_Ala104del) c.892_933del (p.Ala298_Ala311del) c.577_618del (p.Ala193_Ala206del) | gnomAD v4 |
14 | g.24081324G>A | CA389276732 | NRL | c.626C>T (p.Ala209Val) c.209C>T (p.Ala70Val) c.725C>T (p.Ala242Val) c.410C>T (p.Ala137Val) c.311C>T (p.Ala104Val) c.932C>T (p.Ala311Val) c.617C>T (p.Ala206Val) | gnomAD v4 |
14 | g.24081324G>C | CA389276734 | NRL | c.626C>G (p.Ala209Gly) c.209C>G (p.Ala70Gly) c.725C>G (p.Ala242Gly) c.410C>G (p.Ala137Gly) c.311C>G (p.Ala104Gly) c.932C>G (p.Ala311Gly) c.617C>G (p.Ala206Gly) | |
14 | g.24081324G>T | CA389276735 | NRL | c.626C>A (p.Ala209Asp) c.209C>A (p.Ala70Asp) c.725C>A (p.Ala242Asp) c.410C>A (p.Ala137Asp) c.311C>A (p.Ala104Asp) c.932C>A (p.Ala311Asp) c.617C>A (p.Ala206Asp) | gnomAD v4 |
14 | g.24081325C>A | CA389276740 | NRL | c.625G>T (p.Ala209Ser) c.208G>T (p.Ala70Ser) c.724G>T (p.Ala242Ser) c.409G>T (p.Ala137Ser) c.310G>T (p.Ala104Ser) c.931G>T (p.Ala311Ser) c.616G>T (p.Ala206Ser) | gnomAD v4 |
14 | g.24081325C>G | CA389276744 | NRL | c.625G>C (p.Ala209Pro) c.208G>C (p.Ala70Pro) c.724G>C (p.Ala242Pro) c.409G>C (p.Ala137Pro) c.310G>C (p.Ala104Pro) c.931G>C (p.Ala311Pro) c.616G>C (p.Ala206Pro) | |
14 | g.24081325C>T | CA389276761 | NRL | c.625G>A (p.Ala209Thr) c.208G>A (p.Ala70Thr) c.724G>A (p.Ala242Thr) c.409G>A (p.Ala137Thr) c.310G>A (p.Ala104Thr) c.931G>A (p.Ala311Thr) c.616G>A (p.Ala206Thr) | gnomAD v4 |
14 | g.24081326C>A | CA485775634 | NRL | c.624G>T (p.Leu208=) c.207G>T (p.Leu69=) c.723G>T (p.Leu241=) c.408G>T (p.Leu136=) c.309G>T (p.Leu103=) c.930G>T (p.Leu310=) c.615G>T (p.Leu205=) | gnomAD v4 |
14 | g.24081326C>G | CA485775635 | NRL | c.624G>C (p.Leu208=) c.207G>C (p.Leu69=) c.723G>C (p.Leu241=) c.408G>C (p.Leu136=) c.309G>C (p.Leu103=) c.930G>C (p.Leu310=) c.615G>C (p.Leu205=) | |
14 | g.24081326C>T | CA485775636 | NRL | c.624G>A (p.Leu208=) c.207G>A (p.Leu69=) c.723G>A (p.Leu241=) c.408G>A (p.Leu136=) c.309G>A (p.Leu103=) c.930G>A (p.Leu310=) c.615G>A (p.Leu205=) | gnomAD v4 |
14 | g.24081327A>C | CA389276782 | NRL | c.623T>G (p.Leu208Arg) c.206T>G (p.Leu69Arg) c.722T>G (p.Leu241Arg) c.407T>G (p.Leu136Arg) c.308T>G (p.Leu103Arg) c.929T>G (p.Leu310Arg) c.614T>G (p.Leu205Arg) | |
14 | g.24081327A>G | CA389276784 | NRL | c.623T>C (p.Leu208Pro) c.206T>C (p.Leu69Pro) c.722T>C (p.Leu241Pro) c.407T>C (p.Leu136Pro) c.308T>C (p.Leu103Pro) c.929T>C (p.Leu310Pro) c.614T>C (p.Leu205Pro) | gnomAD v4 |
14 | g.24081327A>T | CA389276800 | NRL | c.623T>A (p.Leu208Gln) c.206T>A (p.Leu69Gln) c.722T>A (p.Leu241Gln) c.407T>A (p.Leu136Gln) c.308T>A (p.Leu103Gln) c.929T>A (p.Leu310Gln) c.614T>A (p.Leu205Gln) | |
14 | g.24081328G>A | CA485775639 | NRL | c.622C>T (p.Leu208=) c.205C>T (p.Leu69=) c.721C>T (p.Leu241=) c.406C>T (p.Leu136=) c.307C>T (p.Leu103=) c.928C>T (p.Leu310=) c.613C>T (p.Leu205=) | gnomAD v4 |
14 | g.24081328G>C | CA389276814 | NRL | c.622C>G (p.Leu208Val) c.205C>G (p.Leu69Val) c.721C>G (p.Leu241Val) c.406C>G (p.Leu136Val) c.307C>G (p.Leu103Val) c.928C>G (p.Leu310Val) c.613C>G (p.Leu205Val) | |
14 | g.24081328G>T | CA389276835 | NRL | c.622C>A (p.Leu208Met) c.205C>A (p.Leu69Met) c.721C>A (p.Leu241Met) c.406C>A (p.Leu136Met) c.307C>A (p.Leu103Met) c.928C>A (p.Leu310Met) c.613C>A (p.Leu205Met) | gnomAD v4 |
14 | g.24081329G>A | CA485775640 | NRL | c.621C>T (p.Arg207=) c.204C>T (p.Arg68=) c.720C>T (p.Arg240=) c.405C>T (p.Arg135=) c.306C>T (p.Arg102=) c.927C>T (p.Arg309=) c.612C>T (p.Arg204=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081329G>C | CA485775641 | NRL | c.621C>G (p.Arg207=) c.204C>G (p.Arg68=) c.720C>G (p.Arg240=) c.405C>G (p.Arg135=) c.306C>G (p.Arg102=) c.927C>G (p.Arg309=) c.612C>G (p.Arg204=) | |
14 | g.24081329G= | CA2123777374 | NRL | c.621C= (p.Arg207=) c.204C= (p.Arg68=) c.720C= (p.Arg240=) c.405C= (p.Arg135=) c.306C= (p.Arg102=) c.927C= (p.Arg309=) c.612C= (p.Arg204=) | |
14 | g.24081329G>T | CA485775642 | NRL | c.621C>A (p.Arg207=) c.204C>A (p.Arg68=) c.720C>A (p.Arg240=) c.405C>A (p.Arg135=) c.306C>A (p.Arg102=) c.927C>A (p.Arg309=) c.612C>A (p.Arg204=) | |
14 | g.24081330C>A | CA389276857 | NRL | c.620G>T (p.Arg207Leu) c.203G>T (p.Arg68Leu) c.719G>T (p.Arg240Leu) c.404G>T (p.Arg135Leu) c.305G>T (p.Arg102Leu) c.926G>T (p.Arg309Leu) c.611G>T (p.Arg204Leu) | gnomAD v4 |
14 | g.24081330C= | CA2123777377 | NRL | c.620G= (p.Arg207=) c.203G= (p.Arg68=) c.719G= (p.Arg240=) c.404G= (p.Arg135=) c.305G= (p.Arg102=) c.926G= (p.Arg309=) c.611G= (p.Arg204=) | |
14 | g.24081330C>G | CA389276862 | NRL | c.620G>C (p.Arg207Pro) c.203G>C (p.Arg68Pro) c.719G>C (p.Arg240Pro) c.404G>C (p.Arg135Pro) c.305G>C (p.Arg102Pro) c.926G>C (p.Arg309Pro) c.611G>C (p.Arg204Pro) | |
14 | g.24081330C>T | CA7122818 | NRL | c.620G>A (p.Arg207His) c.203G>A (p.Arg68His) c.719G>A (p.Arg240His) c.404G>A (p.Arg135His) c.305G>A (p.Arg102His) c.926G>A (p.Arg309His) c.611G>A (p.Arg204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081331G>A | CA389276868 | NRL | c.619C>T (p.Arg207Cys) c.202C>T (p.Arg68Cys) c.718C>T (p.Arg240Cys) c.403C>T (p.Arg135Cys) c.304C>T (p.Arg102Cys) c.925C>T (p.Arg309Cys) c.610C>T (p.Arg204Cys) | ClinVar dbSNP gnomAD v4 |
14 | g.24081331G>C | CA389276872 | NRL | c.619C>G (p.Arg207Gly) c.202C>G (p.Arg68Gly) c.718C>G (p.Arg240Gly) c.403C>G (p.Arg135Gly) c.304C>G (p.Arg102Gly) c.925C>G (p.Arg309Gly) c.610C>G (p.Arg204Gly) | ClinVar |
14 | g.24081331G= | CA2123777386 | NRL | c.619C= (p.Arg207=) c.202C= (p.Arg68=) c.718C= (p.Arg240=) c.403C= (p.Arg135=) c.304C= (p.Arg102=) c.925C= (p.Arg309=) c.610C= (p.Arg204=) | |
14 | g.24081331G>T | CA389276873 | NRL | c.619C>A (p.Arg207Ser) c.202C>A (p.Arg68Ser) c.718C>A (p.Arg240Ser) c.403C>A (p.Arg135Ser) c.304C>A (p.Arg102Ser) c.925C>A (p.Arg309Ser) c.610C>A (p.Arg204Ser) | gnomAD v4 |
14 | g.24081332G>A | CA485775646 | NRL | c.618C>T (p.Ala206=) c.201C>T (p.Ala67=) c.717C>T (p.Ala239=) c.402C>T (p.Ala134=) c.303C>T (p.Ala101=) c.924C>T (p.Ala308=) c.609C>T (p.Ala203=) | gnomAD v4 |
14 | g.24081332G>C | CA485775647 | NRL | c.618C>G (p.Ala206=) c.201C>G (p.Ala67=) c.717C>G (p.Ala239=) c.402C>G (p.Ala134=) c.303C>G (p.Ala101=) c.924C>G (p.Ala308=) c.609C>G (p.Ala203=) | |
14 | g.24081332G>T | CA485775648 | NRL | c.618C>A (p.Ala206=) c.201C>A (p.Ala67=) c.717C>A (p.Ala239=) c.402C>A (p.Ala134=) c.303C>A (p.Ala101=) c.924C>A (p.Ala308=) c.609C>A (p.Ala203=) | gnomAD v4 |
14 | g.24081333G>A | CA389276875 | NRL | c.617C>T (p.Ala206Val) c.200C>T (p.Ala67Val) c.716C>T (p.Ala239Val) c.401C>T (p.Ala134Val) c.302C>T (p.Ala101Val) c.923C>T (p.Ala308Val) c.608C>T (p.Ala203Val) | gnomAD v4 |
14 | g.24081333G>C | CA389276877 | NRL | c.617C>G (p.Ala206Gly) c.200C>G (p.Ala67Gly) c.716C>G (p.Ala239Gly) c.401C>G (p.Ala134Gly) c.302C>G (p.Ala101Gly) c.923C>G (p.Ala308Gly) c.608C>G (p.Ala203Gly) | gnomAD v4 |
14 | g.24081333G>T | CA389276878 | NRL | c.617C>A (p.Ala206Asp) c.200C>A (p.Ala67Asp) c.716C>A (p.Ala239Asp) c.401C>A (p.Ala134Asp) c.302C>A (p.Ala101Asp) c.923C>A (p.Ala308Asp) c.608C>A (p.Ala203Asp) | ClinVar gnomAD v4 |
14 | g.24081334C>A | CA389276879 | NRL | c.616G>T (p.Ala206Ser) c.199G>T (p.Ala67Ser) c.715G>T (p.Ala239Ser) c.400G>T (p.Ala134Ser) c.301G>T (p.Ala101Ser) c.922G>T (p.Ala308Ser) c.607G>T (p.Ala203Ser) | gnomAD v4 COSMIC |
14 | g.24081334C= | CA2123777394 | NRL | c.616G= (p.Ala206=) c.199G= (p.Ala67=) c.715G= (p.Ala239=) c.400G= (p.Ala134=) c.301G= (p.Ala101=) c.922G= (p.Ala308=) c.607G= (p.Ala203=) | |
14 | g.24081334C>G | CA389276880 | NRL | c.616G>C (p.Ala206Pro) c.199G>C (p.Ala67Pro) c.715G>C (p.Ala239Pro) c.400G>C (p.Ala134Pro) c.301G>C (p.Ala101Pro) c.922G>C (p.Ala308Pro) c.607G>C (p.Ala203Pro) | gnomAD v4 |
14 | g.24081334C>T | CA389276882 | NRL | c.616G>A (p.Ala206Thr) c.199G>A (p.Ala67Thr) c.715G>A (p.Ala239Thr) c.400G>A (p.Ala134Thr) c.301G>A (p.Ala101Thr) c.922G>A (p.Ala308Thr) c.607G>A (p.Ala203Thr) | ClinVar dbSNP gnomAD v4 |
14 | g.24081335C>A | CA485775653 | NRL | c.615G>T (p.Val205=) c.198G>T (p.Val66=) c.714G>T (p.Val238=) c.399G>T (p.Val133=) c.300G>T (p.Val100=) c.921G>T (p.Val307=) c.606G>T (p.Val202=) | gnomAD v4 |
14 | g.24081335C= | CA2123777401 | NRL | c.615G= (p.Val205=) c.198G= (p.Val66=) c.714G= (p.Val238=) c.399G= (p.Val133=) c.300G= (p.Val100=) c.921G= (p.Val307=) c.606G= (p.Val202=) | |
14 | g.24081335C>G | CA485775654 | NRL | c.615G>C (p.Val205=) c.198G>C (p.Val66=) c.714G>C (p.Val238=) c.399G>C (p.Val133=) c.300G>C (p.Val100=) c.921G>C (p.Val307=) c.606G>C (p.Val202=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081335C>T | CA485775655 | NRL | c.615G>A (p.Val205=) c.198G>A (p.Val66=) c.714G>A (p.Val238=) c.399G>A (p.Val133=) c.300G>A (p.Val100=) c.921G>A (p.Val307=) c.606G>A (p.Val202=) | gnomAD v4 |
14 | g.24081336A= | CA2123777406 | NRL | c.614T= (p.Val205=) c.197T= (p.Val66=) c.713T= (p.Val238=) c.398T= (p.Val133=) c.299T= (p.Val100=) c.920T= (p.Val307=) c.605T= (p.Val202=) | |
14 | g.24081336A>C | CA389276897 | NRL | c.614T>G (p.Val205Gly) c.197T>G (p.Val66Gly) c.713T>G (p.Val238Gly) c.398T>G (p.Val133Gly) c.299T>G (p.Val100Gly) c.920T>G (p.Val307Gly) c.605T>G (p.Val202Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081336A>G | CA389276889 | NRL | c.614T>C (p.Val205Ala) c.197T>C (p.Val66Ala) c.713T>C (p.Val238Ala) c.398T>C (p.Val133Ala) c.299T>C (p.Val100Ala) c.920T>C (p.Val307Ala) c.605T>C (p.Val202Ala) | gnomAD v4 |
14 | g.24081336A>T | CA389276886 | NRL | c.614T>A (p.Val205Glu) c.197T>A (p.Val66Glu) c.713T>A (p.Val238Glu) c.398T>A (p.Val133Glu) c.299T>A (p.Val100Glu) c.920T>A (p.Val307Glu) c.605T>A (p.Val202Glu) | |
14 | g.24081337C>A | CA389276903 | NRL | c.613G>T (p.Val205Leu) c.196G>T (p.Val66Leu) c.712G>T (p.Val238Leu) c.397G>T (p.Val133Leu) c.298G>T (p.Val100Leu) c.919G>T (p.Val307Leu) c.604G>T (p.Val202Leu) | gnomAD v4 |
14 | g.24081337C= | CA2123777412 | NRL | c.613G= (p.Val205=) c.196G= (p.Val66=) c.712G= (p.Val238=) c.397G= (p.Val133=) c.298G= (p.Val100=) c.919G= (p.Val307=) c.604G= (p.Val202=) | |
14 | g.24081337C>G | CA389276911 | NRL | c.613G>C (p.Val205Leu) c.196G>C (p.Val66Leu) c.712G>C (p.Val238Leu) c.397G>C (p.Val133Leu) c.298G>C (p.Val100Leu) c.919G>C (p.Val307Leu) c.604G>C (p.Val202Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081337C>T | CA389276907 | NRL | c.613G>A (p.Val205Met) c.196G>A (p.Val66Met) c.712G>A (p.Val238Met) c.397G>A (p.Val133Met) c.298G>A (p.Val100Met) c.919G>A (p.Val307Met) c.604G>A (p.Val202Met) | gnomAD v4 |
14 | g.24081338C>A | CA389276913 | NRL | c.612G>T (p.Glu204Asp) c.195G>T (p.Glu65Asp) c.711G>T (p.Glu237Asp) c.396G>T (p.Glu132Asp) c.297G>T (p.Glu99Asp) c.918G>T (p.Glu306Asp) c.603G>T (p.Glu201Asp) | gnomAD v4 |
14 | g.24081338C= | CA2123777416 | NRL | c.612G= (p.Glu204=) c.195G= (p.Glu65=) c.711G= (p.Glu237=) c.396G= (p.Glu132=) c.297G= (p.Glu99=) c.918G= (p.Glu306=) c.603G= (p.Glu201=) | |
14 | g.24081338C>G | CA389276917 | NRL | c.612G>C (p.Glu204Asp) c.195G>C (p.Glu65Asp) c.711G>C (p.Glu237Asp) c.396G>C (p.Glu132Asp) c.297G>C (p.Glu99Asp) c.918G>C (p.Glu306Asp) c.603G>C (p.Glu201Asp) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081338C>T | CA485775659 | NRL | c.612G>A (p.Glu204=) c.195G>A (p.Glu65=) c.711G>A (p.Glu237=) c.396G>A (p.Glu132=) c.297G>A (p.Glu99=) c.918G>A (p.Glu306=) c.603G>A (p.Glu201=) | dbSNP gnomAD v4 |
14 | g.24081345_24081386del | CA2624298089 | NRL | c.571_612del (p.Arg191_Glu204del) c.154_195del (p.Arg52_Glu65del) c.670_711del (p.Arg224_Glu237del) c.355_396del (p.Arg119_Glu132del) c.256_297del (p.Arg86_Glu99del) c.877_918del (p.Arg293_Glu306del) c.562_603del (p.Arg188_Glu201del) | gnomAD v4 |
14 | g.24081339T>A | CA389276935 | NRL | c.611A>T (p.Glu204Val) c.194A>T (p.Glu65Val) c.710A>T (p.Glu237Val) c.395A>T (p.Glu132Val) c.296A>T (p.Glu99Val) c.917A>T (p.Glu306Val) c.602A>T (p.Glu201Val) | gnomAD v4 |
14 | g.24081339T>C | CA389276938 | NRL | c.611A>G (p.Glu204Gly) c.194A>G (p.Glu65Gly) c.710A>G (p.Glu237Gly) c.395A>G (p.Glu132Gly) c.296A>G (p.Glu99Gly) c.917A>G (p.Glu306Gly) c.602A>G (p.Glu201Gly) | gnomAD v4 |
14 | g.24081339T>G | CA389276945 | NRL | c.611A>C (p.Glu204Ala) c.194A>C (p.Glu65Ala) c.710A>C (p.Glu237Ala) c.395A>C (p.Glu132Ala) c.296A>C (p.Glu99Ala) c.917A>C (p.Glu306Ala) c.602A>C (p.Glu201Ala) | gnomAD v4 |
14 | g.24081340C>A | CA389276950 | NRL | c.610G>T (p.Glu204Ter) c.193G>T (p.Glu65Ter) c.709G>T (p.Glu237Ter) c.394G>T (p.Glu132Ter) c.295G>T (p.Glu99Ter) c.916G>T (p.Glu306Ter) c.601G>T (p.Glu201Ter) | gnomAD v4 |
14 | g.24081340C>G | CA389276955 | NRL | c.610G>C (p.Glu204Gln) c.193G>C (p.Glu65Gln) c.709G>C (p.Glu237Gln) c.394G>C (p.Glu132Gln) c.295G>C (p.Glu99Gln) c.916G>C (p.Glu306Gln) c.601G>C (p.Glu201Gln) | |
14 | g.24081340C>T | CA389276956 | NRL | c.610G>A (p.Glu204Lys) c.193G>A (p.Glu65Lys) c.709G>A (p.Glu237Lys) c.394G>A (p.Glu132Lys) c.295G>A (p.Glu99Lys) c.916G>A (p.Glu306Lys) c.601G>A (p.Glu201Lys) | gnomAD v4 COSMIC |
14 | g.24081341G>A | CA485775667 | NRL | c.609C>T (p.Ala203=) c.192C>T (p.Ala64=) c.708C>T (p.Ala236=) c.393C>T (p.Ala131=) c.294C>T (p.Ala98=) c.915C>T (p.Ala305=) c.600C>T (p.Ala200=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081341G>C | CA7122819 | NRL | c.609C>G (p.Ala203=) c.192C>G (p.Ala64=) c.708C>G (p.Ala236=) c.393C>G (p.Ala131=) c.294C>G (p.Ala98=) c.915C>G (p.Ala305=) c.600C>G (p.Ala200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24081341G= | CA2123777418 | NRL | c.609C= (p.Ala203=) c.192C= (p.Ala64=) c.708C= (p.Ala236=) c.393C= (p.Ala131=) c.294C= (p.Ala98=) c.915C= (p.Ala305=) c.600C= (p.Ala200=) | |
14 | g.24081341G>T | CA485775666 | NRL | c.609C>A (p.Ala203=) c.192C>A (p.Ala64=) c.708C>A (p.Ala236=) c.393C>A (p.Ala131=) c.294C>A (p.Ala98=) c.915C>A (p.Ala305=) c.600C>A (p.Ala200=) | gnomAD v4 |
14 | g.24081342G>A | CA389276962 | NRL | c.608C>T (p.Ala203Val) c.191C>T (p.Ala64Val) c.707C>T (p.Ala236Val) c.392C>T (p.Ala131Val) c.293C>T (p.Ala98Val) c.914C>T (p.Ala305Val) c.599C>T (p.Ala200Val) | gnomAD v4 |
14 | g.24081342G>C | CA389276964 | NRL | c.608C>G (p.Ala203Gly) c.191C>G (p.Ala64Gly) c.707C>G (p.Ala236Gly) c.392C>G (p.Ala131Gly) c.293C>G (p.Ala98Gly) c.914C>G (p.Ala305Gly) c.599C>G (p.Ala200Gly) | |
14 | g.24081342G>T | CA389276977 | NRL | c.608C>A (p.Ala203Asp) c.191C>A (p.Ala64Asp) c.707C>A (p.Ala236Asp) c.392C>A (p.Ala131Asp) c.293C>A (p.Ala98Asp) c.914C>A (p.Ala305Asp) c.599C>A (p.Ala200Asp) | gnomAD v4 |
14 | g.24081343C>A | CA389276998 | NRL | c.607G>T (p.Ala203Ser) c.190G>T (p.Ala64Ser) c.706G>T (p.Ala236Ser) c.391G>T (p.Ala131Ser) c.292G>T (p.Ala98Ser) c.913G>T (p.Ala305Ser) c.598G>T (p.Ala200Ser) | gnomAD v4 |
14 | g.24081343C= | CA2123777423 | NRL | c.607G= (p.Ala203=) c.190G= (p.Ala64=) c.706G= (p.Ala236=) c.391G= (p.Ala131=) c.292G= (p.Ala98=) c.913G= (p.Ala305=) c.598G= (p.Ala200=) | |
14 | g.24081343C>G | CA389276981 | NRL | c.607G>C (p.Ala203Pro) c.190G>C (p.Ala64Pro) c.706G>C (p.Ala236Pro) c.391G>C (p.Ala131Pro) c.292G>C (p.Ala98Pro) c.913G>C (p.Ala305Pro) c.598G>C (p.Ala200Pro) | |
14 | g.24081343C>T | CA257868064 | NRL | c.607G>A (p.Ala203Thr) c.190G>A (p.Ala64Thr) c.706G>A (p.Ala236Thr) c.391G>A (p.Ala131Thr) c.292G>A (p.Ala98Thr) c.913G>A (p.Ala305Thr) c.598G>A (p.Ala200Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081344C>A | CA485775670 | NRL | c.606G>T (p.Arg202=) c.189G>T (p.Arg63=) c.705G>T (p.Arg235=) c.390G>T (p.Arg130=) c.291G>T (p.Arg97=) c.912G>T (p.Arg304=) c.597G>T (p.Arg199=) | gnomAD v4 |
14 | g.24081344C= | CA2123777431 | NRL | c.606G= (p.Arg202=) c.189G= (p.Arg63=) c.705G= (p.Arg235=) c.390G= (p.Arg130=) c.291G= (p.Arg97=) c.912G= (p.Arg304=) c.597G= (p.Arg199=) | |
14 | g.24081344C>G | CA485775674 | NRL | c.606G>C (p.Arg202=) c.189G>C (p.Arg63=) c.705G>C (p.Arg235=) c.390G>C (p.Arg130=) c.291G>C (p.Arg97=) c.912G>C (p.Arg304=) c.597G>C (p.Arg199=) | |
14 | g.24081344C>T | CA485775672 | NRL | c.606G>A (p.Arg202=) c.189G>A (p.Arg63=) c.705G>A (p.Arg235=) c.390G>A (p.Arg130=) c.291G>A (p.Arg97=) c.912G>A (p.Arg304=) c.597G>A (p.Arg199=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081345C>A | CA389277014 | NRL | c.605G>T (p.Arg202Leu) c.188G>T (p.Arg63Leu) c.704G>T (p.Arg235Leu) c.389G>T (p.Arg130Leu) c.290G>T (p.Arg97Leu) c.911G>T (p.Arg304Leu) c.596G>T (p.Arg199Leu) | gnomAD v4 |
14 | g.24081345C= | CA2123777432 | NRL | c.605G= (p.Arg202=) c.188G= (p.Arg63=) c.704G= (p.Arg235=) c.389G= (p.Arg130=) c.290G= (p.Arg97=) c.911G= (p.Arg304=) c.596G= (p.Arg199=) | |
14 | g.24081345C>G | CA389277016 | NRL | c.605G>C (p.Arg202Pro) c.188G>C (p.Arg63Pro) c.704G>C (p.Arg235Pro) c.389G>C (p.Arg130Pro) c.290G>C (p.Arg97Pro) c.911G>C (p.Arg304Pro) c.596G>C (p.Arg199Pro) | |
14 | g.24081345C>T | CA257868065 | NRL | c.605G>A (p.Arg202Gln) c.188G>A (p.Arg63Gln) c.704G>A (p.Arg235Gln) c.389G>A (p.Arg130Gln) c.290G>A (p.Arg97Gln) c.911G>A (p.Arg304Gln) c.596G>A (p.Arg199Gln) | dbSNP gnomAD v4 |
14 | g.24081346G>A | CA389277023 | NRL | c.604C>T (p.Arg202Trp) c.187C>T (p.Arg63Trp) c.703C>T (p.Arg235Trp) c.388C>T (p.Arg130Trp) c.289C>T (p.Arg97Trp) c.910C>T (p.Arg304Trp) c.595C>T (p.Arg199Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081346G>C | CA389277030 | NRL | c.604C>G (p.Arg202Gly) c.187C>G (p.Arg63Gly) c.703C>G (p.Arg235Gly) c.388C>G (p.Arg130Gly) c.289C>G (p.Arg97Gly) c.910C>G (p.Arg304Gly) c.595C>G (p.Arg199Gly) | gnomAD v4 |
14 | g.24081346G= | CA2123777435 | NRL | c.604C= (p.Arg202=) c.187C= (p.Arg63=) c.703C= (p.Arg235=) c.388C= (p.Arg130=) c.289C= (p.Arg97=) c.910C= (p.Arg304=) c.595C= (p.Arg199=) | |
14 | g.24081346G>T | CA485775676 | NRL | c.604C>A (p.Arg202=) c.187C>A (p.Arg63=) c.703C>A (p.Arg235=) c.388C>A (p.Arg130=) c.289C>A (p.Arg97=) c.910C>A (p.Arg304=) c.595C>A (p.Arg199=) | ClinVar dbSNP gnomAD v4 |
14 | g.24081347C>A | CA485775677 | NRL | c.603G>T (p.Leu201=) c.186G>T (p.Leu62=) c.702G>T (p.Leu234=) c.387G>T (p.Leu129=) c.288G>T (p.Leu96=) c.909G>T (p.Leu303=) c.594G>T (p.Leu198=) | gnomAD v4 |
14 | g.24081347C>G | CA485775678 | NRL | c.603G>C (p.Leu201=) c.186G>C (p.Leu62=) c.702G>C (p.Leu234=) c.387G>C (p.Leu129=) c.288G>C (p.Leu96=) c.909G>C (p.Leu303=) c.594G>C (p.Leu198=) | |
14 | g.24081347C>T | CA485775681 | NRL | c.603G>A (p.Leu201=) c.186G>A (p.Leu62=) c.702G>A (p.Leu234=) c.387G>A (p.Leu129=) c.288G>A (p.Leu96=) c.909G>A (p.Leu303=) c.594G>A (p.Leu198=) | gnomAD v4 |
14 | g.24081348A>C | CA389277041 | NRL | c.602T>G (p.Leu201Arg) c.185T>G (p.Leu62Arg) c.701T>G (p.Leu234Arg) c.386T>G (p.Leu129Arg) c.287T>G (p.Leu96Arg) c.908T>G (p.Leu303Arg) c.593T>G (p.Leu198Arg) | gnomAD v4 |
14 | g.24081348A>G | CA389277047 | NRL | c.602T>C (p.Leu201Pro) c.185T>C (p.Leu62Pro) c.701T>C (p.Leu234Pro) c.386T>C (p.Leu129Pro) c.287T>C (p.Leu96Pro) c.908T>C (p.Leu303Pro) c.593T>C (p.Leu198Pro) | gnomAD v4 |
14 | g.24081348A>T | CA389277060 | NRL | c.602T>A (p.Leu201Gln) c.185T>A (p.Leu62Gln) c.701T>A (p.Leu234Gln) c.386T>A (p.Leu129Gln) c.287T>A (p.Leu96Gln) c.908T>A (p.Leu303Gln) c.593T>A (p.Leu198Gln) | |
14 | g.24081349G>A | CA485775683 | NRL | c.601C>T (p.Leu201=) c.184C>T (p.Leu62=) c.700C>T (p.Leu234=) c.385C>T (p.Leu129=) c.286C>T (p.Leu96=) c.907C>T (p.Leu303=) c.592C>T (p.Leu198=) | gnomAD v4 |
14 | g.24081349G>C | CA389277066 | NRL | c.601C>G (p.Leu201Val) c.184C>G (p.Leu62Val) c.700C>G (p.Leu234Val) c.385C>G (p.Leu129Val) c.286C>G (p.Leu96Val) c.907C>G (p.Leu303Val) c.592C>G (p.Leu198Val) | |
14 | g.24081349G>T | CA389277067 | NRL | c.601C>A (p.Leu201Met) c.184C>A (p.Leu62Met) c.700C>A (p.Leu234Met) c.385C>A (p.Leu129Met) c.286C>A (p.Leu96Met) c.907C>A (p.Leu303Met) c.592C>A (p.Leu198Met) | gnomAD v4 |
14 | g.24081350C>A | CA485775686 | NRL | c.600G>T (p.Ala200=) c.183G>T (p.Ala61=) c.699G>T (p.Ala233=) c.384G>T (p.Ala128=) c.285G>T (p.Ala95=) c.906G>T (p.Ala302=) c.591G>T (p.Ala197=) | |
14 | g.24081350C>G | CA485775688 | NRL | c.600G>C (p.Ala200=) c.183G>C (p.Ala61=) c.699G>C (p.Ala233=) c.384G>C (p.Ala128=) c.285G>C (p.Ala95=) c.906G>C (p.Ala302=) c.591G>C (p.Ala197=) | |
14 | g.24081350C>T | CA485775689 | NRL | c.600G>A (p.Ala200=) c.183G>A (p.Ala61=) c.699G>A (p.Ala233=) c.384G>A (p.Ala128=) c.285G>A (p.Ala95=) c.906G>A (p.Ala302=) c.591G>A (p.Ala197=) | gnomAD v4 |
14 | g.24081351G>A | CA389277090 | NRL | c.599C>T (p.Ala200Val) c.182C>T (p.Ala61Val) c.698C>T (p.Ala233Val) c.383C>T (p.Ala128Val) c.284C>T (p.Ala95Val) c.905C>T (p.Ala302Val) c.590C>T (p.Ala197Val) | gnomAD v4 |
14 | g.24081351G>C | CA389277081 | NRL | c.599C>G (p.Ala200Gly) c.182C>G (p.Ala61Gly) c.698C>G (p.Ala233Gly) c.383C>G (p.Ala128Gly) c.284C>G (p.Ala95Gly) c.905C>G (p.Ala302Gly) c.590C>G (p.Ala197Gly) | |
14 | g.24081351G>T | CA389277076 | NRL | c.599C>A (p.Ala200Glu) c.182C>A (p.Ala61Glu) c.698C>A (p.Ala233Glu) c.383C>A (p.Ala128Glu) c.284C>A (p.Ala95Glu) c.905C>A (p.Ala302Glu) c.590C>A (p.Ala197Glu) | ClinVar dbSNP gnomAD v4 |
14 | g.24081352C>A | CA389277095 | NRL | c.598G>T (p.Ala200Ser) c.181G>T (p.Ala61Ser) c.697G>T (p.Ala233Ser) c.382G>T (p.Ala128Ser) c.283G>T (p.Ala95Ser) c.904G>T (p.Ala302Ser) c.589G>T (p.Ala197Ser) | gnomAD v4 |
14 | g.24081352C= | CA2123777438 | NRL | c.598G= (p.Ala200=) c.181G= (p.Ala61=) c.697G= (p.Ala233=) c.382G= (p.Ala128=) c.283G= (p.Ala95=) c.904G= (p.Ala302=) c.589G= (p.Ala197=) | |
14 | g.24081352C>G | CA389277105 | NRL | c.598G>C (p.Ala200Pro) c.181G>C (p.Ala61Pro) c.697G>C (p.Ala233Pro) c.382G>C (p.Ala128Pro) c.283G>C (p.Ala95Pro) c.904G>C (p.Ala302Pro) c.589G>C (p.Ala197Pro) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081352C>T | CA389277108 | NRL | c.598G>A (p.Ala200Thr) c.181G>A (p.Ala61Thr) c.697G>A (p.Ala233Thr) c.382G>A (p.Ala128Thr) c.283G>A (p.Ala95Thr) c.904G>A (p.Ala302Thr) c.589G>A (p.Ala197Thr) | |
14 | g.24081353G>A | CA485775695 | NRL | c.597C>T (p.Asp199=) c.180C>T (p.Asp60=) c.696C>T (p.Asp232=) c.381C>T (p.Asp127=) c.282C>T (p.Asp94=) c.903C>T (p.Asp301=) c.588C>T (p.Asp196=) | gnomAD v4 |
14 | g.24081353G>C | CA257868066 | NRL | c.597C>G (p.Asp199Glu) c.180C>G (p.Asp60Glu) c.696C>G (p.Asp232Glu) c.381C>G (p.Asp127Glu) c.282C>G (p.Asp94Glu) c.903C>G (p.Asp301Glu) c.588C>G (p.Asp196Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081353G= | CA2123777445 | NRL | c.597C= (p.Asp199=) c.180C= (p.Asp60=) c.696C= (p.Asp232=) c.381C= (p.Asp127=) c.282C= (p.Asp94=) c.903C= (p.Asp301=) c.588C= (p.Asp196=) | |
14 | g.24081353G>T | CA389277124 | NRL | c.597C>A (p.Asp199Glu) c.180C>A (p.Asp60Glu) c.696C>A (p.Asp232Glu) c.381C>A (p.Asp127Glu) c.282C>A (p.Asp94Glu) c.903C>A (p.Asp301Glu) c.588C>A (p.Asp196Glu) | gnomAD v4 |
14 | g.24081354T>A | CA389277128 | NRL | c.596A>T (p.Asp199Val) c.179A>T (p.Asp60Val) c.695A>T (p.Asp232Val) c.380A>T (p.Asp127Val) c.281A>T (p.Asp94Val) c.902A>T (p.Asp301Val) c.587A>T (p.Asp196Val) | |
14 | g.24081354T>C | CA389277130 | NRL | c.596A>G (p.Asp199Gly) c.179A>G (p.Asp60Gly) c.695A>G (p.Asp232Gly) c.380A>G (p.Asp127Gly) c.281A>G (p.Asp94Gly) c.902A>G (p.Asp301Gly) c.587A>G (p.Asp196Gly) | gnomAD v4 |
14 | g.24081354T>G | CA389277132 | NRL | c.596A>C (p.Asp199Ala) c.179A>C (p.Asp60Ala) c.695A>C (p.Asp232Ala) c.380A>C (p.Asp127Ala) c.281A>C (p.Asp94Ala) c.902A>C (p.Asp301Ala) c.587A>C (p.Asp196Ala) | |
14 | g.24081355C>A | CA389277136 | NRL | c.595G>T (p.Asp199Tyr) c.178G>T (p.Asp60Tyr) c.694G>T (p.Asp232Tyr) c.379G>T (p.Asp127Tyr) c.280G>T (p.Asp94Tyr) c.901G>T (p.Asp301Tyr) c.586G>T (p.Asp196Tyr) | |
14 | g.24081355C>G | CA389277141 | NRL | c.595G>C (p.Asp199His) c.178G>C (p.Asp60His) c.694G>C (p.Asp232His) c.379G>C (p.Asp127His) c.280G>C (p.Asp94His) c.901G>C (p.Asp301His) c.586G>C (p.Asp196His) | |
14 | g.24081355C>T | CA389277145 | NRL | c.595G>A (p.Asp199Asn) c.178G>A (p.Asp60Asn) c.694G>A (p.Asp232Asn) c.379G>A (p.Asp127Asn) c.280G>A (p.Asp94Asn) c.901G>A (p.Asp301Asn) c.586G>A (p.Asp196Asn) | |
14 | g.24081356C>A | CA485775700 | NRL | c.594G>T (p.Leu198=) c.177G>T (p.Leu59=) c.693G>T (p.Leu231=) c.378G>T (p.Leu126=) c.279G>T (p.Leu93=) c.900G>T (p.Leu300=) c.585G>T (p.Leu195=) | gnomAD v4 |
14 | g.24081356C>G | CA485775702 | NRL | c.594G>C (p.Leu198=) c.177G>C (p.Leu59=) c.693G>C (p.Leu231=) c.378G>C (p.Leu126=) c.279G>C (p.Leu93=) c.900G>C (p.Leu300=) c.585G>C (p.Leu195=) | |
14 | g.24081356C>T | CA485775703 | NRL | c.594G>A (p.Leu198=) c.177G>A (p.Leu59=) c.693G>A (p.Leu231=) c.378G>A (p.Leu126=) c.279G>A (p.Leu93=) c.900G>A (p.Leu300=) c.585G>A (p.Leu195=) | gnomAD v4 |
14 | g.24081357A= | CA2123777450 | NRL | c.593T= (p.Leu198=) c.176T= (p.Leu59=) c.692T= (p.Leu231=) c.377T= (p.Leu126=) c.278T= (p.Leu93=) c.899T= (p.Leu300=) c.584T= (p.Leu195=) | |
14 | g.24081357A>C | CA389277150 | NRL | c.593T>G (p.Leu198Arg) c.176T>G (p.Leu59Arg) c.692T>G (p.Leu231Arg) c.377T>G (p.Leu126Arg) c.278T>G (p.Leu93Arg) c.899T>G (p.Leu300Arg) c.584T>G (p.Leu195Arg) | |
14 | g.24081357A>G | CA257868067 | NRL | c.593T>C (p.Leu198Pro) c.176T>C (p.Leu59Pro) c.692T>C (p.Leu231Pro) c.377T>C (p.Leu126Pro) c.278T>C (p.Leu93Pro) c.899T>C (p.Leu300Pro) c.584T>C (p.Leu195Pro) | dbSNP gnomAD v4 |
14 | g.24081357A>T | CA389277149 | NRL | c.593T>A (p.Leu198Gln) c.176T>A (p.Leu59Gln) c.692T>A (p.Leu231Gln) c.377T>A (p.Leu126Gln) c.278T>A (p.Leu93Gln) c.899T>A (p.Leu300Gln) c.584T>A (p.Leu195Gln) | |
14 | g.24081358G>A | CA485775705 | NRL | c.592C>T (p.Leu198=) c.175C>T (p.Leu59=) c.691C>T (p.Leu231=) c.376C>T (p.Leu126=) c.277C>T (p.Leu93=) c.898C>T (p.Leu300=) c.583C>T (p.Leu195=) | gnomAD v4 |
14 | g.24081358G>C | CA389277155 | NRL | c.592C>G (p.Leu198Val) c.175C>G (p.Leu59Val) c.691C>G (p.Leu231Val) c.376C>G (p.Leu126Val) c.277C>G (p.Leu93Val) c.898C>G (p.Leu300Val) c.583C>G (p.Leu195Val) | |
14 | g.24081358G>T | CA389277158 | NRL | c.592C>A (p.Leu198Met) c.175C>A (p.Leu59Met) c.691C>A (p.Leu231Met) c.376C>A (p.Leu126Met) c.277C>A (p.Leu93Met) c.898C>A (p.Leu300Met) c.583C>A (p.Leu195Met) | |
14 | g.24081359C>A | CA389277165 | NRL | c.591G>T (p.Gln197His) c.174G>T (p.Gln58His) c.690G>T (p.Gln230His) c.375G>T (p.Gln125His) c.276G>T (p.Gln92His) c.897G>T (p.Gln299His) c.582G>T (p.Gln194His) | gnomAD v4 |
14 | g.24081359C= | CA2123777453 | NRL | c.591G= (p.Gln197=) c.174G= (p.Gln58=) c.690G= (p.Gln230=) c.375G= (p.Gln125=) c.276G= (p.Gln92=) c.897G= (p.Gln299=) c.582G= (p.Gln194=) | |
14 | g.24081359C>G | CA389277169 | NRL | c.591G>C (p.Gln197His) c.174G>C (p.Gln58His) c.690G>C (p.Gln230His) c.375G>C (p.Gln125His) c.276G>C (p.Gln92His) c.897G>C (p.Gln299His) c.582G>C (p.Gln194His) | dbSNP |
14 | g.24081359C>T | CA485775706 | NRL | c.591G>A (p.Gln197=) c.174G>A (p.Gln58=) c.690G>A (p.Gln230=) c.375G>A (p.Gln125=) c.276G>A (p.Gln92=) c.897G>A (p.Gln299=) c.582G>A (p.Gln194=) | gnomAD v4 |
14 | g.24081360T>A | CA389277174 | NRL | c.590A>T (p.Gln197Leu) c.173A>T (p.Gln58Leu) c.689A>T (p.Gln230Leu) c.374A>T (p.Gln125Leu) c.275A>T (p.Gln92Leu) c.896A>T (p.Gln299Leu) c.581A>T (p.Gln194Leu) | |
14 | g.24081360T>C | CA389277183 | NRL | c.590A>G (p.Gln197Arg) c.173A>G (p.Gln58Arg) c.689A>G (p.Gln230Arg) c.374A>G (p.Gln125Arg) c.275A>G (p.Gln92Arg) c.896A>G (p.Gln299Arg) c.581A>G (p.Gln194Arg) | gnomAD v4 |
14 | g.24081360T>G | CA389277188 | NRL | c.590A>C (p.Gln197Pro) c.173A>C (p.Gln58Pro) c.689A>C (p.Gln230Pro) c.374A>C (p.Gln125Pro) c.275A>C (p.Gln92Pro) c.896A>C (p.Gln299Pro) c.581A>C (p.Gln194Pro) | |
14 | g.24081361G>A | CA389277193 | NRL | c.589C>T (p.Gln197Ter) c.172C>T (p.Gln58Ter) c.688C>T (p.Gln230Ter) c.373C>T (p.Gln125Ter) c.274C>T (p.Gln92Ter) c.895C>T (p.Gln299Ter) c.580C>T (p.Gln194Ter) | ClinVar dbSNP gnomAD v4 |
14 | g.24081361G>C | CA389277194 | NRL | c.589C>G (p.Gln197Glu) c.172C>G (p.Gln58Glu) c.688C>G (p.Gln230Glu) c.373C>G (p.Gln125Glu) c.274C>G (p.Gln92Glu) c.895C>G (p.Gln299Glu) c.580C>G (p.Gln194Glu) | |
14 | g.24081361G= | CA2123777456 | NRL | c.589C= (p.Gln197=) c.172C= (p.Gln58=) c.688C= (p.Gln230=) c.373C= (p.Gln125=) c.274C= (p.Gln92=) c.895C= (p.Gln299=) c.580C= (p.Gln194=) | |
14 | g.24081361G>T | CA389277196 | NRL | c.589C>A (p.Gln197Lys) c.172C>A (p.Gln58Lys) c.688C>A (p.Gln230Lys) c.373C>A (p.Gln125Lys) c.274C>A (p.Gln92Lys) c.895C>A (p.Gln299Lys) c.580C>A (p.Gln194Lys) | |
14 | g.24081363del | CA2624298179 | NRL | c.589del (p.Gln197SerfsTer26) c.172del (p.Gln58SerfsTer26) c.688del (p.Gln230SerfsTer26) c.373del (p.Gln125SerfsTer26) c.274del (p.Gln92SerfsTer26) c.895del (p.Gln299SerfsTer26) c.580del (p.Gln194SerfsTer26) | gnomAD v4 |
14 | g.24081362G>A | CA485775708 | NRL | c.588C>T (p.Ala196=) c.171C>T (p.Ala57=) c.687C>T (p.Ala229=) c.372C>T (p.Ala124=) c.273C>T (p.Ala91=) c.894C>T (p.Ala298=) c.579C>T (p.Ala193=) | gnomAD v4 |
14 | g.24081362G>C | CA485775709 | NRL | c.588C>G (p.Ala196=) c.171C>G (p.Ala57=) c.687C>G (p.Ala229=) c.372C>G (p.Ala124=) c.273C>G (p.Ala91=) c.894C>G (p.Ala298=) c.579C>G (p.Ala193=) | |
14 | g.24081362G>T | CA485775711 | NRL | c.588C>A (p.Ala196=) c.171C>A (p.Ala57=) c.687C>A (p.Ala229=) c.372C>A (p.Ala124=) c.273C>A (p.Ala91=) c.894C>A (p.Ala298=) c.579C>A (p.Ala193=) | gnomAD v4 |
14 | g.24081363G>A | CA389277198 | NRL | c.587C>T (p.Ala196Val) c.170C>T (p.Ala57Val) c.686C>T (p.Ala229Val) c.371C>T (p.Ala124Val) c.272C>T (p.Ala91Val) c.893C>T (p.Ala298Val) c.578C>T (p.Ala193Val) | gnomAD v4 |
14 | g.24081363G>C | CA389277201 | NRL | c.587C>G (p.Ala196Gly) c.170C>G (p.Ala57Gly) c.686C>G (p.Ala229Gly) c.371C>G (p.Ala124Gly) c.272C>G (p.Ala91Gly) c.893C>G (p.Ala298Gly) c.578C>G (p.Ala193Gly) | |
14 | g.24081363G>T | CA389277203 | NRL | c.587C>A (p.Ala196Asp) c.170C>A (p.Ala57Asp) c.686C>A (p.Ala229Asp) c.371C>A (p.Ala124Asp) c.272C>A (p.Ala91Asp) c.893C>A (p.Ala298Asp) c.578C>A (p.Ala193Asp) | gnomAD v4 |
14 | g.24081364C>A | CA389277209 | NRL | c.586G>T (p.Ala196Ser) c.169G>T (p.Ala57Ser) c.685G>T (p.Ala229Ser) c.370G>T (p.Ala124Ser) c.271G>T (p.Ala91Ser) c.892G>T (p.Ala298Ser) c.577G>T (p.Ala193Ser) | gnomAD v4 |
14 | g.24081364C= | CA2123777459 | NRL | c.586G= (p.Ala196=) c.169G= (p.Ala57=) c.685G= (p.Ala229=) c.370G= (p.Ala124=) c.271G= (p.Ala91=) c.892G= (p.Ala298=) c.577G= (p.Ala193=) | |
14 | g.24081364C>G | CA389277210 | NRL | c.586G>C (p.Ala196Pro) c.169G>C (p.Ala57Pro) c.685G>C (p.Ala229Pro) c.370G>C (p.Ala124Pro) c.271G>C (p.Ala91Pro) c.892G>C (p.Ala298Pro) c.577G>C (p.Ala193Pro) | |
14 | g.24081364C>T | CA389277208 | NRL | c.586G>A (p.Ala196Thr) c.169G>A (p.Ala57Thr) c.685G>A (p.Ala229Thr) c.370G>A (p.Ala124Thr) c.271G>A (p.Ala91Thr) c.892G>A (p.Ala298Thr) c.577G>A (p.Ala193Thr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081365G>A | CA485775713 | NRL | c.585C>T (p.Ala195=) c.168C>T (p.Ala56=) c.684C>T (p.Ala228=) c.369C>T (p.Ala123=) c.270C>T (p.Ala90=) c.891C>T (p.Ala297=) c.576C>T (p.Ala192=) | gnomAD v4 |
14 | g.24081365G>C | CA7122820 | NRL | c.585C>G (p.Ala195=) c.168C>G (p.Ala56=) c.684C>G (p.Ala228=) c.369C>G (p.Ala123=) c.270C>G (p.Ala90=) c.891C>G (p.Ala297=) c.576C>G (p.Ala192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24081365G= | CA2123777462 | NRL | c.585C= (p.Ala195=) c.168C= (p.Ala56=) c.684C= (p.Ala228=) c.369C= (p.Ala123=) c.270C= (p.Ala90=) c.891C= (p.Ala297=) c.576C= (p.Ala192=) | |
14 | g.24081365G>T | CA485775714 | NRL | c.585C>A (p.Ala195=) c.168C>A (p.Ala56=) c.684C>A (p.Ala228=) c.369C>A (p.Ala123=) c.270C>A (p.Ala90=) c.891C>A (p.Ala297=) c.576C>A (p.Ala192=) | gnomAD v4 |
14 | g.24081366dup | CA2624298191 | NRL | c.585dup (p.Ala196ArgfsTer25) c.168dup (p.Ala57ArgfsTer25) c.684dup (p.Ala229ArgfsTer25) c.369dup (p.Ala124ArgfsTer25) c.270dup (p.Ala91ArgfsTer25) c.891dup (p.Ala298ArgfsTer25) c.576dup (p.Ala193ArgfsTer25) | gnomAD v4 |
14 | g.24081366G>A | CA389277215 | NRL | c.584C>T (p.Ala195Val) c.167C>T (p.Ala56Val) c.683C>T (p.Ala228Val) c.368C>T (p.Ala123Val) c.269C>T (p.Ala90Val) c.890C>T (p.Ala297Val) c.575C>T (p.Ala192Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081366G>C | CA389277220 | NRL | c.584C>G (p.Ala195Gly) c.167C>G (p.Ala56Gly) c.683C>G (p.Ala228Gly) c.368C>G (p.Ala123Gly) c.269C>G (p.Ala90Gly) c.890C>G (p.Ala297Gly) c.575C>G (p.Ala192Gly) | |
14 | g.24081366G= | CA2123777465 | NRL | c.584C= (p.Ala195=) c.167C= (p.Ala56=) c.683C= (p.Ala228=) c.368C= (p.Ala123=) c.269C= (p.Ala90=) c.890C= (p.Ala297=) c.575C= (p.Ala192=) | |
14 | g.24081366G>T | CA389277218 | NRL | c.584C>A (p.Ala195Asp) c.167C>A (p.Ala56Asp) c.683C>A (p.Ala228Asp) c.368C>A (p.Ala123Asp) c.269C>A (p.Ala90Asp) c.890C>A (p.Ala297Asp) c.575C>A (p.Ala192Asp) | gnomAD v4 |
14 | g.24081367C>A | CA389277226 | NRL | c.583G>T (p.Ala195Ser) c.166G>T (p.Ala56Ser) c.682G>T (p.Ala228Ser) c.367G>T (p.Ala123Ser) c.268G>T (p.Ala90Ser) c.889G>T (p.Ala297Ser) c.574G>T (p.Ala192Ser) | gnomAD v4 |
14 | g.24081367C>G | CA389277227 | NRL | c.583G>C (p.Ala195Pro) c.166G>C (p.Ala56Pro) c.682G>C (p.Ala228Pro) c.367G>C (p.Ala123Pro) c.268G>C (p.Ala90Pro) c.889G>C (p.Ala297Pro) c.574G>C (p.Ala192Pro) | |
14 | g.24081367C>T | CA389277228 | NRL | c.583G>A (p.Ala195Thr) c.166G>A (p.Ala56Thr) c.682G>A (p.Ala228Thr) c.367G>A (p.Ala123Thr) c.268G>A (p.Ala90Thr) c.889G>A (p.Ala297Thr) c.574G>A (p.Ala192Thr) | gnomAD v4 |
14 | g.24081368del | CA2624298201 | NRL | c.583del (p.Ala195ProfsTer28) c.166del (p.Ala56ProfsTer28) c.682del (p.Ala228ProfsTer28) c.367del (p.Ala123ProfsTer28) c.268del (p.Ala90ProfsTer28) c.889del (p.Ala297ProfsTer28) c.574del (p.Ala192ProfsTer28) | gnomAD v4 |
14 | g.24081368C>A | CA485775716 | NRL | c.582G>T (p.Leu194=) c.165G>T (p.Leu55=) c.681G>T (p.Leu227=) c.366G>T (p.Leu122=) c.267G>T (p.Leu89=) c.888G>T (p.Leu296=) c.573G>T (p.Leu191=) | gnomAD v4 |
14 | g.24081368C>G | CA485775717 | NRL | c.582G>C (p.Leu194=) c.165G>C (p.Leu55=) c.681G>C (p.Leu227=) c.366G>C (p.Leu122=) c.267G>C (p.Leu89=) c.888G>C (p.Leu296=) c.573G>C (p.Leu191=) | |
14 | g.24081368C>T | CA485775718 | NRL | c.582G>A (p.Leu194=) c.165G>A (p.Leu55=) c.681G>A (p.Leu227=) c.366G>A (p.Leu122=) c.267G>A (p.Leu89=) c.888G>A (p.Leu296=) c.573G>A (p.Leu191=) | gnomAD v4 |
14 | g.24081369A= | CA2123777467 | NRL | c.581T= (p.Leu194=) c.164T= (p.Leu55=) c.680T= (p.Leu227=) c.365T= (p.Leu122=) c.266T= (p.Leu89=) c.887T= (p.Leu296=) c.572T= (p.Leu191=) | |
14 | g.24081369A>C | CA389277233 | NRL | c.581T>G (p.Leu194Arg) c.164T>G (p.Leu55Arg) c.680T>G (p.Leu227Arg) c.365T>G (p.Leu122Arg) c.266T>G (p.Leu89Arg) c.887T>G (p.Leu296Arg) c.572T>G (p.Leu191Arg) | |
14 | g.24081369A>G | CA257868070 | NRL | c.581T>C (p.Leu194Pro) c.164T>C (p.Leu55Pro) c.680T>C (p.Leu227Pro) c.365T>C (p.Leu122Pro) c.266T>C (p.Leu89Pro) c.887T>C (p.Leu296Pro) c.572T>C (p.Leu191Pro) | dbSNP |
14 | g.24081369A>T | CA389277246 | NRL | c.581T>A (p.Leu194Gln) c.164T>A (p.Leu55Gln) c.680T>A (p.Leu227Gln) c.365T>A (p.Leu122Gln) c.266T>A (p.Leu89Gln) c.887T>A (p.Leu296Gln) c.572T>A (p.Leu191Gln) | gnomAD v4 |
14 | g.24081370G>A | CA485775721 | NRL | c.580C>T (p.Leu194=) c.163C>T (p.Leu55=) c.679C>T (p.Leu227=) c.364C>T (p.Leu122=) c.265C>T (p.Leu89=) c.886C>T (p.Leu296=) c.571C>T (p.Leu191=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081370G>C | CA389277252 | NRL | c.580C>G (p.Leu194Val) c.163C>G (p.Leu55Val) c.679C>G (p.Leu227Val) c.364C>G (p.Leu122Val) c.265C>G (p.Leu89Val) c.886C>G (p.Leu296Val) c.571C>G (p.Leu191Val) | |
14 | g.24081370G= | CA2123777470 | NRL | c.580C= (p.Leu194=) c.163C= (p.Leu55=) c.679C= (p.Leu227=) c.364C= (p.Leu122=) c.265C= (p.Leu89=) c.886C= (p.Leu296=) c.571C= (p.Leu191=) | |
14 | g.24081370G>T | CA389277257 | NRL | c.580C>A (p.Leu194Met) c.163C>A (p.Leu55Met) c.679C>A (p.Leu227Met) c.364C>A (p.Leu122Met) c.265C>A (p.Leu89Met) c.886C>A (p.Leu296Met) c.571C>A (p.Leu191Met) | |
14 | g.24081370_24081389dup | CA2624298208 | NRL | c.561_580dup (p.Leu194ArgfsTer36) c.144_163dup (p.Leu55ArgfsTer36) c.660_679dup (p.Leu227ArgfsTer36) c.345_364dup (p.Leu122ArgfsTer36) c.246_265dup (p.Leu89ArgfsTer36) c.867_886dup (p.Leu296ArgfsTer36) c.552_571dup (p.Leu191ArgfsTer36) | gnomAD v4 |
14 | g.24081371G>A | CA485775722 | NRL | c.579C>T (p.Arg193=) c.162C>T (p.Arg54=) c.678C>T (p.Arg226=) c.363C>T (p.Arg121=) c.264C>T (p.Arg88=) c.885C>T (p.Arg295=) c.570C>T (p.Arg190=) | dbSNP gnomAD v4 |
14 | g.24081371G>C | CA485775723 | NRL | c.579C>G (p.Arg193=) c.162C>G (p.Arg54=) c.678C>G (p.Arg226=) c.363C>G (p.Arg121=) c.264C>G (p.Arg88=) c.885C>G (p.Arg295=) c.570C>G (p.Arg190=) | |
14 | g.24081371G>T | CA485775724 | NRL | c.579C>A (p.Arg193=) c.162C>A (p.Arg54=) c.678C>A (p.Arg226=) c.363C>A (p.Arg121=) c.264C>A (p.Arg88=) c.885C>A (p.Arg295=) c.570C>A (p.Arg190=) | gnomAD v4 |
14 | g.24081372del | CA2624298220 | NRL | c.578del (p.Arg193ProfsTer30) c.161del (p.Arg54ProfsTer30) c.677del (p.Arg226ProfsTer30) c.362del (p.Arg121ProfsTer30) c.263del (p.Arg88ProfsTer30) c.884del (p.Arg295ProfsTer30) c.569del (p.Arg190ProfsTer30) | gnomAD v4 |
14 | g.24081372C>A | CA389277266 | NRL | c.578G>T (p.Arg193Leu) c.161G>T (p.Arg54Leu) c.677G>T (p.Arg226Leu) c.362G>T (p.Arg121Leu) c.263G>T (p.Arg88Leu) c.884G>T (p.Arg295Leu) c.569G>T (p.Arg190Leu) | gnomAD v4 |
14 | g.24081372C= | CA2123777475 | NRL | c.578G= (p.Arg193=) c.161G= (p.Arg54=) c.677G= (p.Arg226=) c.362G= (p.Arg121=) c.263G= (p.Arg88=) c.884G= (p.Arg295=) c.569G= (p.Arg190=) | |
14 | g.24081372C>G | CA389277291 | NRL | c.578G>C (p.Arg193Pro) c.161G>C (p.Arg54Pro) c.677G>C (p.Arg226Pro) c.362G>C (p.Arg121Pro) c.263G>C (p.Arg88Pro) c.884G>C (p.Arg295Pro) c.569G>C (p.Arg190Pro) | |
14 | g.24081372C>T | CA389277305 | NRL | c.578G>A (p.Arg193His) c.161G>A (p.Arg54His) c.677G>A (p.Arg226His) c.362G>A (p.Arg121His) c.263G>A (p.Arg88His) c.884G>A (p.Arg295His) c.569G>A (p.Arg190His) | ClinVar dbSNP gnomAD v4 |
14 | g.24081373G>A | CA7122821 | NRL | c.577C>T (p.Arg193Cys) c.160C>T (p.Arg54Cys) c.676C>T (p.Arg226Cys) c.361C>T (p.Arg121Cys) c.262C>T (p.Arg88Cys) c.883C>T (p.Arg295Cys) c.568C>T (p.Arg190Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24081373G>C | CA389277314 | NRL | c.577C>G (p.Arg193Gly) c.160C>G (p.Arg54Gly) c.676C>G (p.Arg226Gly) c.361C>G (p.Arg121Gly) c.262C>G (p.Arg88Gly) c.883C>G (p.Arg295Gly) c.568C>G (p.Arg190Gly) | |
14 | g.24081373G= | CA2123777483 | NRL | c.577C= (p.Arg193=) c.160C= (p.Arg54=) c.676C= (p.Arg226=) c.361C= (p.Arg121=) c.262C= (p.Arg88=) c.883C= (p.Arg295=) c.568C= (p.Arg190=) | |
14 | g.24081373G>T | CA389277310 | NRL | c.577C>A (p.Arg193Ser) c.160C>A (p.Arg54Ser) c.676C>A (p.Arg226Ser) c.361C>A (p.Arg121Ser) c.262C>A (p.Arg88Ser) c.883C>A (p.Arg295Ser) c.568C>A (p.Arg190Ser) | gnomAD v4 |
14 | g.24081374G>A | CA485775730 | NRL | c.576C>T (p.Ala192=) c.159C>T (p.Ala53=) c.675C>T (p.Ala225=) c.360C>T (p.Ala120=) c.261C>T (p.Ala87=) c.882C>T (p.Ala294=) c.567C>T (p.Ala189=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081374G>C | CA485775731 | NRL | c.576C>G (p.Ala192=) c.159C>G (p.Ala53=) c.675C>G (p.Ala225=) c.360C>G (p.Ala120=) c.261C>G (p.Ala87=) c.882C>G (p.Ala294=) c.567C>G (p.Ala189=) | |
14 | g.24081374G= | CA2123777492 | NRL | c.576C= (p.Ala192=) c.159C= (p.Ala53=) c.675C= (p.Ala225=) c.360C= (p.Ala120=) c.261C= (p.Ala87=) c.882C= (p.Ala294=) c.567C= (p.Ala189=) | |
14 | g.24081374G>T | CA485775732 | NRL | c.576C>A (p.Ala192=) c.159C>A (p.Ala53=) c.675C>A (p.Ala225=) c.360C>A (p.Ala120=) c.261C>A (p.Ala87=) c.882C>A (p.Ala294=) c.567C>A (p.Ala189=) | gnomAD v4 |
14 | g.24081375G>A | CA389277324 | NRL | c.575C>T (p.Ala192Val) c.158C>T (p.Ala53Val) c.674C>T (p.Ala225Val) c.359C>T (p.Ala120Val) c.260C>T (p.Ala87Val) c.881C>T (p.Ala294Val) c.566C>T (p.Ala189Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081375G>C | CA389277329 | NRL | c.575C>G (p.Ala192Gly) c.158C>G (p.Ala53Gly) c.674C>G (p.Ala225Gly) c.359C>G (p.Ala120Gly) c.260C>G (p.Ala87Gly) c.881C>G (p.Ala294Gly) c.566C>G (p.Ala189Gly) | gnomAD v4 |
14 | g.24081375G= | CA2123777498 | NRL | c.575C= (p.Ala192=) c.158C= (p.Ala53=) c.674C= (p.Ala225=) c.359C= (p.Ala120=) c.260C= (p.Ala87=) c.881C= (p.Ala294=) c.566C= (p.Ala189=) | |
14 | g.24081375G>T | CA389277331 | NRL | c.575C>A (p.Ala192Asp) c.158C>A (p.Ala53Asp) c.674C>A (p.Ala225Asp) c.359C>A (p.Ala120Asp) c.260C>A (p.Ala87Asp) c.881C>A (p.Ala294Asp) c.566C>A (p.Ala189Asp) | |
14 | g.24081376C>A | CA389277337 | NRL | c.574G>T (p.Ala192Ser) c.157G>T (p.Ala53Ser) c.673G>T (p.Ala225Ser) c.358G>T (p.Ala120Ser) c.259G>T (p.Ala87Ser) c.880G>T (p.Ala294Ser) c.565G>T (p.Ala189Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081376C= | CA2123777507 | NRL | c.574G= (p.Ala192=) c.157G= (p.Ala53=) c.673G= (p.Ala225=) c.358G= (p.Ala120=) c.259G= (p.Ala87=) c.880G= (p.Ala294=) c.565G= (p.Ala189=) | |
14 | g.24081376C>G | CA389277343 | NRL | c.574G>C (p.Ala192Pro) c.157G>C (p.Ala53Pro) c.673G>C (p.Ala225Pro) c.358G>C (p.Ala120Pro) c.259G>C (p.Ala87Pro) c.880G>C (p.Ala294Pro) c.565G>C (p.Ala189Pro) | gnomAD v4 |
14 | g.24081376C>T | CA257868073 | NRL | c.574G>A (p.Ala192Thr) c.157G>A (p.Ala53Thr) c.673G>A (p.Ala225Thr) c.358G>A (p.Ala120Thr) c.259G>A (p.Ala87Thr) c.880G>A (p.Ala294Thr) c.565G>A (p.Ala189Thr) | dbSNP gnomAD v4 |
14 | g.24081377G>A | CA485775736 | NRL | c.573C>T (p.Arg191=) c.156C>T (p.Arg52=) c.672C>T (p.Arg224=) c.357C>T (p.Arg119=) c.258C>T (p.Arg86=) c.879C>T (p.Arg293=) c.564C>T (p.Arg188=) | gnomAD v4 |
14 | g.24081377G>C | CA485775737 | NRL | c.573C>G (p.Arg191=) c.156C>G (p.Arg52=) c.672C>G (p.Arg224=) c.357C>G (p.Arg119=) c.258C>G (p.Arg86=) c.879C>G (p.Arg293=) c.564C>G (p.Arg188=) | |
14 | g.24081377G>T | CA485775738 | NRL | c.573C>A (p.Arg191=) c.156C>A (p.Arg52=) c.672C>A (p.Arg224=) c.357C>A (p.Arg119=) c.258C>A (p.Arg86=) c.879C>A (p.Arg293=) c.564C>A (p.Arg188=) | |
14 | g.24081378C>A | CA389277345 | NRL | c.572G>T (p.Arg191Leu) c.155G>T (p.Arg52Leu) c.671G>T (p.Arg224Leu) c.356G>T (p.Arg119Leu) c.257G>T (p.Arg86Leu) c.878G>T (p.Arg293Leu) c.563G>T (p.Arg188Leu) | gnomAD v4 |
14 | g.24081378C>G | CA389277356 | NRL | c.572G>C (p.Arg191Pro) c.155G>C (p.Arg52Pro) c.671G>C (p.Arg224Pro) c.356G>C (p.Arg119Pro) c.257G>C (p.Arg86Pro) c.878G>C (p.Arg293Pro) c.563G>C (p.Arg188Pro) | |
14 | g.24081378C>T | CA389277360 | NRL | c.572G>A (p.Arg191His) c.155G>A (p.Arg52His) c.671G>A (p.Arg224His) c.356G>A (p.Arg119His) c.257G>A (p.Arg86His) c.878G>A (p.Arg293His) c.563G>A (p.Arg188His) | gnomAD v4 |
14 | g.24081378_24081379insCCCACGGT | CA2624298250 | NRL | c.571_572insACCGTGGG (p.Arg191HisfsTer?) c.154_155insACCGTGGG (p.Arg52HisfsTer?) c.670_671insACCGTGGG (p.Arg224HisfsTer?) c.355_356insACCGTGGG (p.Arg119HisfsTer?) c.256_257insACCGTGGG (p.Arg86HisfsTer?) c.877_878insACCGTGGG (p.Arg293HisfsTer?) c.562_563insACCGTGGG (p.Arg188HisfsTer?) | gnomAD v4 |
14 | g.24081379G>A | CA389277363 | NRL | c.571C>T (p.Arg191Cys) c.154C>T (p.Arg52Cys) c.670C>T (p.Arg224Cys) c.355C>T (p.Arg119Cys) c.256C>T (p.Arg86Cys) c.877C>T (p.Arg293Cys) c.562C>T (p.Arg188Cys) | gnomAD v4 |
14 | g.24081379G>C | CA389277368 | NRL | c.571C>G (p.Arg191Gly) c.154C>G (p.Arg52Gly) c.670C>G (p.Arg224Gly) c.355C>G (p.Arg119Gly) c.256C>G (p.Arg86Gly) c.877C>G (p.Arg293Gly) c.562C>G (p.Arg188Gly) | |
14 | g.24081379G>T | CA389277370 | NRL | c.571C>A (p.Arg191Ser) c.154C>A (p.Arg52Ser) c.670C>A (p.Arg224Ser) c.355C>A (p.Arg119Ser) c.256C>A (p.Arg86Ser) c.877C>A (p.Arg293Ser) c.562C>A (p.Arg188Ser) | gnomAD v4 |
14 | g.24081380C>A | CA389277373 | NRL | c.570G>T (p.Glu190Asp) c.153G>T (p.Glu51Asp) c.669G>T (p.Glu223Asp) c.354G>T (p.Glu118Asp) c.255G>T (p.Glu85Asp) c.876G>T (p.Glu292Asp) c.561G>T (p.Glu187Asp) | gnomAD v4 |
14 | g.24081380C>G | CA389277372 | NRL | c.570G>C (p.Glu190Asp) c.153G>C (p.Glu51Asp) c.669G>C (p.Glu223Asp) c.354G>C (p.Glu118Asp) c.255G>C (p.Glu85Asp) c.876G>C (p.Glu292Asp) c.561G>C (p.Glu187Asp) | gnomAD v4 |
14 | g.24081380C>T | CA485775743 | NRL | c.570G>A (p.Glu190=) c.153G>A (p.Glu51=) c.669G>A (p.Glu223=) c.354G>A (p.Glu118=) c.255G>A (p.Glu85=) c.876G>A (p.Glu292=) c.561G>A (p.Glu187=) | |
14 | g.24081381T>A | CA389277374 | NRL | c.569A>T (p.Glu190Val) c.152A>T (p.Glu51Val) c.668A>T (p.Glu223Val) c.353A>T (p.Glu118Val) c.254A>T (p.Glu85Val) c.875A>T (p.Glu292Val) c.560A>T (p.Glu187Val) | gnomAD v4 |
14 | g.24081381T>C | CA389277378 | NRL | c.569A>G (p.Glu190Gly) c.152A>G (p.Glu51Gly) c.668A>G (p.Glu223Gly) c.353A>G (p.Glu118Gly) c.254A>G (p.Glu85Gly) c.875A>G (p.Glu292Gly) c.560A>G (p.Glu187Gly) | dbSNP gnomAD v4 |
14 | g.24081381T>G | CA389277385 | NRL | c.569A>C (p.Glu190Ala) c.152A>C (p.Glu51Ala) c.668A>C (p.Glu223Ala) c.353A>C (p.Glu118Ala) c.254A>C (p.Glu85Ala) c.875A>C (p.Glu292Ala) c.560A>C (p.Glu187Ala) | |
14 | g.24081381_24081382insG | CA2841865982 | NRL | c.568_569insC (p.Glu190AlafsTer?) c.151_152insC (p.Glu51AlafsTer?) c.667_668insC (p.Glu223AlafsTer?) c.352_353insC (p.Glu118AlafsTer?) c.253_254insC (p.Glu85AlafsTer?) c.874_875insC (p.Glu292AlafsTer?) c.559_560insC (p.Glu187AlafsTer?) | |
14 | g.24081382C>A | CA389277390 | NRL | c.568G>T (p.Glu190Ter) c.151G>T (p.Glu51Ter) c.667G>T (p.Glu223Ter) c.352G>T (p.Glu118Ter) c.253G>T (p.Glu85Ter) c.874G>T (p.Glu292Ter) c.559G>T (p.Glu187Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081382C= | CA2123777511 | NRL | c.568G= (p.Glu190=) c.151G= (p.Glu51=) c.667G= (p.Glu223=) c.352G= (p.Glu118=) c.253G= (p.Glu85=) c.874G= (p.Glu292=) c.559G= (p.Glu187=) | |
14 | g.24081382C>G | CA389277401 | NRL | c.568G>C (p.Glu190Gln) c.151G>C (p.Glu51Gln) c.667G>C (p.Glu223Gln) c.352G>C (p.Glu118Gln) c.253G>C (p.Glu85Gln) c.874G>C (p.Glu292Gln) c.559G>C (p.Glu187Gln) | gnomAD v4 |
14 | g.24081382C>T | CA389277402 | NRL | c.568G>A (p.Glu190Lys) c.151G>A (p.Glu51Lys) c.667G>A (p.Glu223Lys) c.352G>A (p.Glu118Lys) c.253G>A (p.Glu85Lys) c.874G>A (p.Glu292Lys) c.559G>A (p.Glu187Lys) | gnomAD v4 |
14 | g.24081383G>A | CA485775750 | NRL | c.567C>T (p.Ala189=) c.150C>T (p.Ala50=) c.666C>T (p.Ala222=) c.351C>T (p.Ala117=) c.252C>T (p.Ala84=) c.873C>T (p.Ala291=) c.558C>T (p.Ala186=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081383G>C | CA485775748 | NRL | c.567C>G (p.Ala189=) c.150C>G (p.Ala50=) c.666C>G (p.Ala222=) c.351C>G (p.Ala117=) c.252C>G (p.Ala84=) c.873C>G (p.Ala291=) c.558C>G (p.Ala186=) | dbSNP gnomAD v4 |
14 | g.24081383G= | CA2123777518 | NRL | c.567C= (p.Ala189=) c.150C= (p.Ala50=) c.666C= (p.Ala222=) c.351C= (p.Ala117=) c.252C= (p.Ala84=) c.873C= (p.Ala291=) c.558C= (p.Ala186=) | |
14 | g.24081383G>T | CA485775749 | NRL | c.567C>A (p.Ala189=) c.150C>A (p.Ala50=) c.666C>A (p.Ala222=) c.351C>A (p.Ala117=) c.252C>A (p.Ala84=) c.873C>A (p.Ala291=) c.558C>A (p.Ala186=) | gnomAD v4 |
14 | g.24081384dup | CA2573149788 | NRL | c.567dup (p.Glu190ArgfsTer?) c.150dup (p.Glu51ArgfsTer?) c.666dup (p.Glu223ArgfsTer?) c.351dup (p.Glu118ArgfsTer?) c.252dup (p.Glu85ArgfsTer?) c.873dup (p.Glu292ArgfsTer?) c.558dup (p.Glu187ArgfsTer?) | ClinVar dbSNP |
14 | g.24081384G>A | CA389277407 | NRL | c.566C>T (p.Ala189Val) c.149C>T (p.Ala50Val) c.665C>T (p.Ala222Val) c.350C>T (p.Ala117Val) c.251C>T (p.Ala84Val) c.872C>T (p.Ala291Val) c.557C>T (p.Ala186Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081384G>C | CA389277403 | NRL | c.566C>G (p.Ala189Gly) c.149C>G (p.Ala50Gly) c.665C>G (p.Ala222Gly) c.350C>G (p.Ala117Gly) c.251C>G (p.Ala84Gly) c.872C>G (p.Ala291Gly) c.557C>G (p.Ala186Gly) | gnomAD v4 |
14 | g.24081384G= | CA2123777525 | NRL | c.566C= (p.Ala189=) c.149C= (p.Ala50=) c.665C= (p.Ala222=) c.350C= (p.Ala117=) c.251C= (p.Ala84=) c.872C= (p.Ala291=) c.557C= (p.Ala186=) | |
14 | g.24081384G>T | CA389277404 | NRL | c.566C>A (p.Ala189Asp) c.149C>A (p.Ala50Asp) c.665C>A (p.Ala222Asp) c.350C>A (p.Ala117Asp) c.251C>A (p.Ala84Asp) c.872C>A (p.Ala291Asp) c.557C>A (p.Ala186Asp) | gnomAD v4 |
14 | g.24081385C>A | CA389277411 | NRL | c.565G>T (p.Ala189Ser) c.148G>T (p.Ala50Ser) c.664G>T (p.Ala222Ser) c.349G>T (p.Ala117Ser) c.250G>T (p.Ala84Ser) c.871G>T (p.Ala291Ser) c.556G>T (p.Ala186Ser) | gnomAD v4 |
14 | g.24081385C>G | CA389277420 | NRL | c.565G>C (p.Ala189Pro) c.148G>C (p.Ala50Pro) c.664G>C (p.Ala222Pro) c.349G>C (p.Ala117Pro) c.250G>C (p.Ala84Pro) c.871G>C (p.Ala291Pro) c.556G>C (p.Ala186Pro) | |
14 | g.24081385C>T | CA389277422 | NRL | c.565G>A (p.Ala189Thr) c.148G>A (p.Ala50Thr) c.664G>A (p.Ala222Thr) c.349G>A (p.Ala117Thr) c.250G>A (p.Ala84Thr) c.871G>A (p.Ala291Thr) c.556G>A (p.Ala186Thr) | ClinVar gnomAD v4 |
14 | g.24081386C>A | CA257868074 | NRL | c.564G>T (p.Glu188Asp) c.147G>T (p.Glu49Asp) c.663G>T (p.Glu221Asp) c.348G>T (p.Glu116Asp) c.249G>T (p.Glu83Asp) c.870G>T (p.Glu290Asp) c.555G>T (p.Glu185Asp) | dbSNP gnomAD v4 |
14 | g.24081386C= | CA2123777530 | NRL | c.564G= (p.Glu188=) c.147G= (p.Glu49=) c.663G= (p.Glu221=) c.348G= (p.Glu116=) c.249G= (p.Glu83=) c.870G= (p.Glu290=) c.555G= (p.Glu185=) | |
14 | g.24081386C>G | CA389277425 | NRL | c.564G>C (p.Glu188Asp) c.147G>C (p.Glu49Asp) c.663G>C (p.Glu221Asp) c.348G>C (p.Glu116Asp) c.249G>C (p.Glu83Asp) c.870G>C (p.Glu290Asp) c.555G>C (p.Glu185Asp) | |
14 | g.24081386C>T | CA485775757 | NRL | c.564G>A (p.Glu188=) c.147G>A (p.Glu49=) c.663G>A (p.Glu221=) c.348G>A (p.Glu116=) c.249G>A (p.Glu83=) c.870G>A (p.Glu290=) c.555G>A (p.Glu185=) | dbSNP gnomAD v3 gnomAD v4 |