UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24081276C>A | CA389276226 | NRL | c.674G>T (p.Ser225Ile) c.257G>T (p.Ser86Ile) c.773G>T (p.Ser258Ile) c.458G>T (p.Ser153Ile) c.359G>T (p.Ser120Ile) c.980G>T (p.Ser327Ile) c.665G>T (p.Ser222Ile) | gnomAD v4 |
| 14 | g.24081276C= | CA2123777248 | NRL | c.674G= (p.Ser225=) c.257G= (p.Ser86=) c.773G= (p.Ser258=) c.458G= (p.Ser153=) c.359G= (p.Ser120=) c.980G= (p.Ser327=) c.665G= (p.Ser222=) | |
| 14 | g.24081276C>G | CA389276227 | NRL | c.674G>C (p.Ser225Thr) c.257G>C (p.Ser86Thr) c.773G>C (p.Ser258Thr) c.458G>C (p.Ser153Thr) c.359G>C (p.Ser120Thr) c.980G>C (p.Ser327Thr) c.665G>C (p.Ser222Thr) | |
| 14 | g.24081276C>T | CA389276228 | NRL | c.674G>A (p.Ser225Asn) c.257G>A (p.Ser86Asn) c.773G>A (p.Ser258Asn) c.458G>A (p.Ser153Asn) c.359G>A (p.Ser120Asn) c.980G>A (p.Ser327Asn) c.665G>A (p.Ser222Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081277T>A | CA389276234 | NRL | c.673A>T (p.Ser225Cys) c.256A>T (p.Ser86Cys) c.772A>T (p.Ser258Cys) c.457A>T (p.Ser153Cys) c.358A>T (p.Ser120Cys) c.979A>T (p.Ser327Cys) c.664A>T (p.Ser222Cys) | |
| 14 | g.24081277T>C | CA389276237 | NRL | c.673A>G (p.Ser225Gly) c.256A>G (p.Ser86Gly) c.772A>G (p.Ser258Gly) c.457A>G (p.Ser153Gly) c.358A>G (p.Ser120Gly) c.979A>G (p.Ser327Gly) c.664A>G (p.Ser222Gly) | gnomAD v4 |
| 14 | g.24081277T>G | CA389276240 | NRL | c.673A>C (p.Ser225Arg) c.256A>C (p.Ser86Arg) c.772A>C (p.Ser258Arg) c.457A>C (p.Ser153Arg) c.358A>C (p.Ser120Arg) c.979A>C (p.Ser327Arg) c.664A>C (p.Ser222Arg) | |
| 14 | g.24081277_24081278insA | CA2800892056 | NRL | c.672_673insT (p.Ser225Ter) c.255_256insT (p.Ser86Ter) c.771_772insT (p.Ser258Ter) c.456_457insT (p.Ser153Ter) c.357_358insT (p.Ser120Ter) c.978_979insT (p.Ser327Ter) c.663_664insT (p.Ser222Ter) | |
| 14 | g.24081278C>A | CA485775446 | NRL | c.672G>T (p.Ser224=) c.255G>T (p.Ser85=) c.771G>T (p.Ser257=) c.456G>T (p.Ser152=) c.357G>T (p.Ser119=) c.978G>T (p.Ser326=) c.663G>T (p.Ser221=) | gnomAD v4 |
| 14 | g.24081278C= | CA2123777251 | NRL | c.672G= (p.Ser224=) c.255G= (p.Ser85=) c.771G= (p.Ser257=) c.456G= (p.Ser152=) c.357G= (p.Ser119=) c.978G= (p.Ser326=) c.663G= (p.Ser221=) | |
| 14 | g.24081278C>G | CA485775447 | NRL | c.672G>C (p.Ser224=) c.255G>C (p.Ser85=) c.771G>C (p.Ser257=) c.456G>C (p.Ser152=) c.357G>C (p.Ser119=) c.978G>C (p.Ser326=) c.663G>C (p.Ser221=) | dbSNP |
| 14 | g.24081278C>T | CA485775448 | NRL | c.672G>A (p.Ser224=) c.255G>A (p.Ser85=) c.771G>A (p.Ser257=) c.456G>A (p.Ser152=) c.357G>A (p.Ser119=) c.978G>A (p.Ser326=) c.663G>A (p.Ser221=) | |
| 14 | g.24081279G>A | CA389276243 | NRL | c.671C>T (p.Ser224Leu) c.254C>T (p.Ser85Leu) c.770C>T (p.Ser257Leu) c.455C>T (p.Ser152Leu) c.356C>T (p.Ser119Leu) c.977C>T (p.Ser326Leu) c.662C>T (p.Ser221Leu) | gnomAD v4 |
| 14 | g.24081279G>C | CA389276245 | NRL | c.671C>G (p.Ser224Trp) c.254C>G (p.Ser85Trp) c.770C>G (p.Ser257Trp) c.455C>G (p.Ser152Trp) c.356C>G (p.Ser119Trp) c.977C>G (p.Ser326Trp) c.662C>G (p.Ser221Trp) | ClinVar |
| 14 | g.24081279G= | CA2123777257 | NRL | c.671C= (p.Ser224=) c.254C= (p.Ser85=) c.770C= (p.Ser257=) c.455C= (p.Ser152=) c.356C= (p.Ser119=) c.977C= (p.Ser326=) c.662C= (p.Ser221=) | |
| 14 | g.24081279G>T | CA389276253 | NRL | c.671C>A (p.Ser224Ter) c.254C>A (p.Ser85Ter) c.770C>A (p.Ser257Ter) c.455C>A (p.Ser152Ter) c.356C>A (p.Ser119Ter) c.977C>A (p.Ser326Ter) c.662C>A (p.Ser221Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081280A= | CA2123777258 | NRL | c.670T= (p.Ser224=) c.253T= (p.Ser85=) c.769T= (p.Ser257=) c.454T= (p.Ser152=) c.355T= (p.Ser119=) c.976T= (p.Ser326=) c.661T= (p.Ser221=) | |
| 14 | g.24081280A>C | CA389276257 | NRL | c.670T>G (p.Ser224Ala) c.253T>G (p.Ser85Ala) c.769T>G (p.Ser257Ala) c.454T>G (p.Ser152Ala) c.355T>G (p.Ser119Ala) c.976T>G (p.Ser326Ala) c.661T>G (p.Ser221Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081280A>G | CA389276271 | NRL | c.670T>C (p.Ser224Pro) c.253T>C (p.Ser85Pro) c.769T>C (p.Ser257Pro) c.454T>C (p.Ser152Pro) c.355T>C (p.Ser119Pro) c.976T>C (p.Ser326Pro) c.661T>C (p.Ser221Pro) | gnomAD v4 |
| 14 | g.24081280A>T | CA389276273 | NRL | c.670T>A (p.Ser224Thr) c.253T>A (p.Ser85Thr) c.769T>A (p.Ser257Thr) c.454T>A (p.Ser152Thr) c.355T>A (p.Ser119Thr) c.976T>A (p.Ser326Thr) c.661T>A (p.Ser221Thr) | gnomAD v4 |
| 14 | g.24081281G>A | CA485775449 | NRL | c.669C>T (p.Thr223=) c.252C>T (p.Thr84=) c.768C>T (p.Thr256=) c.453C>T (p.Thr151=) c.354C>T (p.Thr118=) c.975C>T (p.Thr325=) c.660C>T (p.Thr220=) | dbSNP gnomAD v4 |
| 14 | g.24081281G>C | CA485775450 | NRL | c.669C>G (p.Thr223=) c.252C>G (p.Thr84=) c.768C>G (p.Thr256=) c.453C>G (p.Thr151=) c.354C>G (p.Thr118=) c.975C>G (p.Thr325=) c.660C>G (p.Thr220=) | |
| 14 | g.24081281G= | CA2123777261 | NRL | c.669C= (p.Thr223=) c.252C= (p.Thr84=) c.768C= (p.Thr256=) c.453C= (p.Thr151=) c.354C= (p.Thr118=) c.975C= (p.Thr325=) c.660C= (p.Thr220=) | |
| 14 | g.24081281G>T | CA485775451 | NRL | c.669C>A (p.Thr223=) c.252C>A (p.Thr84=) c.768C>A (p.Thr256=) c.453C>A (p.Thr151=) c.354C>A (p.Thr118=) c.975C>A (p.Thr325=) c.660C>A (p.Thr220=) | gnomAD v4 |
| 14 | g.24081282G>A | CA7122816 | NRL | c.668C>T (p.Thr223Ile) c.251C>T (p.Thr84Ile) c.767C>T (p.Thr256Ile) c.452C>T (p.Thr151Ile) c.353C>T (p.Thr118Ile) c.974C>T (p.Thr325Ile) c.659C>T (p.Thr220Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081282G>C | CA389276274 | NRL | c.668C>G (p.Thr223Ser) c.251C>G (p.Thr84Ser) c.767C>G (p.Thr256Ser) c.452C>G (p.Thr151Ser) c.353C>G (p.Thr118Ser) c.974C>G (p.Thr325Ser) c.659C>G (p.Thr220Ser) | gnomAD v4 |
| 14 | g.24081282G= | CA2123777269 | NRL | c.668C= (p.Thr223=) c.251C= (p.Thr84=) c.767C= (p.Thr256=) c.452C= (p.Thr151=) c.353C= (p.Thr118=) c.974C= (p.Thr325=) c.659C= (p.Thr220=) | |
| 14 | g.24081282G>T | CA389276275 | NRL | c.668C>A (p.Thr223Asn) c.251C>A (p.Thr84Asn) c.767C>A (p.Thr256Asn) c.452C>A (p.Thr151Asn) c.353C>A (p.Thr118Asn) c.974C>A (p.Thr325Asn) c.659C>A (p.Thr220Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081283T>A | CA389276280 | NRL | c.667A>T (p.Thr223Ser) c.250A>T (p.Thr84Ser) c.766A>T (p.Thr256Ser) c.451A>T (p.Thr151Ser) c.352A>T (p.Thr118Ser) c.973A>T (p.Thr325Ser) c.658A>T (p.Thr220Ser) | |
| 14 | g.24081283T>C | CA389276292 | NRL | c.667A>G (p.Thr223Ala) c.250A>G (p.Thr84Ala) c.766A>G (p.Thr256Ala) c.451A>G (p.Thr151Ala) c.352A>G (p.Thr118Ala) c.973A>G (p.Thr325Ala) c.658A>G (p.Thr220Ala) | gnomAD v4 |
| 14 | g.24081283T>G | CA389276293 | NRL | c.667A>C (p.Thr223Pro) c.250A>C (p.Thr84Pro) c.766A>C (p.Thr256Pro) c.451A>C (p.Thr151Pro) c.352A>C (p.Thr118Pro) c.973A>C (p.Thr325Pro) c.658A>C (p.Thr220Pro) | |
| 14 | g.24081284T>A | CA485775452 | NRL | c.666A>T (p.Leu222=) c.249A>T (p.Leu83=) c.765A>T (p.Leu255=) c.450A>T (p.Leu150=) c.351A>T (p.Leu117=) c.972A>T (p.Leu324=) c.657A>T (p.Leu219=) | |
| 14 | g.24081284T>C | CA485775453 | NRL | c.666A>G (p.Leu222=) c.249A>G (p.Leu83=) c.765A>G (p.Leu255=) c.450A>G (p.Leu150=) c.351A>G (p.Leu117=) c.972A>G (p.Leu324=) c.657A>G (p.Leu219=) | gnomAD v4 |
| 14 | g.24081284T>G | CA485775454 | NRL | c.666A>C (p.Leu222=) c.249A>C (p.Leu83=) c.765A>C (p.Leu255=) c.450A>C (p.Leu150=) c.351A>C (p.Leu117=) c.972A>C (p.Leu324=) c.657A>C (p.Leu219=) | |
| 14 | g.24081285A>C | CA389276294 | NRL | c.665T>G (p.Leu222Arg) c.248T>G (p.Leu83Arg) c.764T>G (p.Leu255Arg) c.449T>G (p.Leu150Arg) c.350T>G (p.Leu117Arg) c.971T>G (p.Leu324Arg) c.656T>G (p.Leu219Arg) | |
| 14 | g.24081285A>G | CA389276299 | NRL | c.665T>C (p.Leu222Pro) c.248T>C (p.Leu83Pro) c.764T>C (p.Leu255Pro) c.449T>C (p.Leu150Pro) c.350T>C (p.Leu117Pro) c.971T>C (p.Leu324Pro) c.656T>C (p.Leu219Pro) | gnomAD v4 |
| 14 | g.24081285A>T | CA389276301 | NRL | c.665T>A (p.Leu222Gln) c.248T>A (p.Leu83Gln) c.764T>A (p.Leu255Gln) c.449T>A (p.Leu150Gln) c.350T>A (p.Leu117Gln) c.971T>A (p.Leu324Gln) c.656T>A (p.Leu219Gln) | |
| 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 |