WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29642203_29642247del | CA645600904 | NF2 | c.365_409del c.*247_*291del c.278_322del c.116_160del c.242_286del c.239_283del n.924_968del c.251_295del n.847_891del | COSMIC |
| 22 | g.29642205_29642288del | CA645600903 | NF2 | c.367_447+3del c.*249_*329+3del c.280_360+3del c.118_198+3del c.244_324+3del c.241_321+3del n.926_1006+3del c.253_333+3del n.849_929+3del | COSMIC |
| 22 | g.29642203_29642285del | CA645600911 | NF2 | c.365_447del (p.Lys123TrpfsTer2) c.*247_*329del (n.*247_*329del) c.278_360del (p.Lys94TrpfsTer2) c.116_198del (p.Lys40TrpfsTer2) c.242_324del (p.Lys82TrpfsTer2) c.239_321del (p.Lys81TrpfsTer2) c.365_447del (p.Val122AlafsTer14) c.116_198del (p.Val39GlufsTer2) n.924_1006del c.251_333del (p.Lys85TrpfsTer2) n.847_929del | COSMIC |
| 22 | g.29642209_29642229del | CA645600912 | NF2 | c.371_391del (p.Lys124_Lys130del) c.*253_*273del (n.*253_*273del) c.284_304del (p.Lys95_Lys101del) c.122_142del (p.Lys41_Lys47del) c.248_268del (p.Lys83_Lys89del) c.245_265del (p.Lys82_Lys88del) n.930_950del c.257_277del (p.Lys86_Lys92del) n.853_873del | COSMIC |
| 22 | g.29642217_29642240del | CA645600916 | NF2 | c.379_402del (p.Leu127_Pro134del) c.*261_*284del (n.*261_*284del) c.292_315del (p.Leu98_Pro105del) c.130_153del (p.Leu44_Pro51del) c.256_279del (p.Leu86_Pro93del) c.253_276del (p.Leu85_Pro92del) n.938_961del c.265_288del (p.Leu89_Pro96del) n.861_884del | COSMIC |
| 22 | g.29642219_29642236del | CA2695196566 | NF2 | c.381_398del (p.Leu127_Cys133delinsPhe) c.*263_*280del (n.*263_*280del) c.294_311del (p.Leu98_Cys104delinsPhe) c.132_149del (p.Leu44_Cys50delinsPhe) c.258_275del (p.Leu86_Cys92delinsPhe) c.255_272del (p.Leu85_Cys91delinsPhe) n.940_957del c.267_284del (p.Leu89_Cys95delinsPhe) n.863_880del | |
| 22 | g.29642219_29642239delinsCCG | CA2695201735 | NF2 | c.381_401delinsCCG (p.Leu127_Pro134delinsPheArg) c.*263_*283delinsCCG (n.*263_*283delinsCCG) c.294_314delinsCCG (p.Leu98_Pro105delinsPheArg) c.132_152delinsCCG (p.Leu44_Pro51delinsPheArg) c.258_278delinsCCG (p.Leu86_Pro93delinsPheArg) c.255_275delinsCCG (p.Leu85_Pro92delinsPheArg) n.940_960delinsCCG c.267_287delinsCCG (p.Leu89_Pro96delinsPheArg) n.863_883delinsCCG | |
| 22 | g.29642229A= | CA2400669566 | NF2 | c.391A= (p.Ile131=) c.*273A= (n.*273A=) c.304A= (p.Ile102=) c.142A= (p.Ile48=) c.268A= (p.Ile90=) c.265A= (p.Ile89=) n.950A= c.277A= (p.Ile93=) n.873A= | |
| 22 | g.29642229A>C | CA10583920 | NF2 | c.391A>C (p.Ile131Leu) c.*273A>C (n.*273A>C) c.304A>C (p.Ile102Leu) c.142A>C (p.Ile48Leu) c.268A>C (p.Ile90Leu) c.265A>C (p.Ile89Leu) n.950A>C c.277A>C (p.Ile93Leu) n.873A>C | ClinVar dbSNP |
| 22 | g.29642229A>G | CA411153775 | NF2 | c.391A>G (p.Ile131Val) c.*273A>G (n.*273A>G) c.304A>G (p.Ile102Val) c.142A>G (p.Ile48Val) c.268A>G (p.Ile90Val) c.265A>G (p.Ile89Val) n.950A>G c.277A>G (p.Ile93Val) n.873A>G | |
| 22 | g.29642229A>T | CA411153776 | NF2 | c.391A>T (p.Ile131Phe) c.*273A>T (n.*273A>T) c.304A>T (p.Ile102Phe) c.142A>T (p.Ile48Phe) c.268A>T (p.Ile90Phe) c.265A>T (p.Ile89Phe) n.950A>T c.277A>T (p.Ile93Phe) n.873A>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.29642230T>A | CA411153777 | NF2 | c.392T>A (p.Ile131Asn) c.*274T>A (n.*274T>A) c.305T>A (p.Ile102Asn) c.143T>A (p.Ile48Asn) c.269T>A (p.Ile90Asn) c.266T>A (p.Ile89Asn) n.951T>A c.278T>A (p.Ile93Asn) n.874T>A | dbSNP |
| 22 | g.29642230T>C | CA411153779 | NF2 | c.392T>C (p.Ile131Thr) c.*274T>C (n.*274T>C) c.305T>C (p.Ile102Thr) c.143T>C (p.Ile48Thr) c.269T>C (p.Ile90Thr) c.266T>C (p.Ile89Thr) n.951T>C c.278T>C (p.Ile93Thr) n.874T>C | ClinVar |
| 22 | g.29642230T>G | CA411153778 | NF2 | c.392T>G (p.Ile131Ser) c.*274T>G (n.*274T>G) c.305T>G (p.Ile102Ser) c.143T>G (p.Ile48Ser) c.269T>G (p.Ile90Ser) c.266T>G (p.Ile89Ser) n.951T>G c.278T>G (p.Ile93Ser) n.874T>G | ClinVar |
| 22 | g.29642231C>A | CA514192346 | NF2 | c.393C>A (p.Ile131=) c.*275C>A (n.*275C>A) c.306C>A (p.Ile102=) c.144C>A (p.Ile48=) c.270C>A (p.Ile90=) c.267C>A (p.Ile89=) n.952C>A c.279C>A (p.Ile93=) n.875C>A | ClinVar |
| 22 | g.29642231C>G | CA411153780 | NF2 | c.393C>G (p.Ile131Met) c.*275C>G (n.*275C>G) c.306C>G (p.Ile102Met) c.144C>G (p.Ile48Met) c.270C>G (p.Ile90Met) c.267C>G (p.Ile89Met) n.952C>G c.279C>G (p.Ile93Met) n.875C>G | dbSNP |
| 22 | g.29642231C>T | CA514192347 | NF2 | c.393C>T (p.Ile131=) c.*275C>T (n.*275C>T) c.306C>T (p.Ile102=) c.144C>T (p.Ile48=) c.270C>T (p.Ile90=) c.267C>T (p.Ile89=) n.952C>T c.279C>T (p.Ile93=) n.875C>T | dbSNP |
| 22 | g.29642232del | CA514192348 | NF2 | c.394del (p.Tyr132ThrfsTer?) c.*276del (n.*276del) c.307del (p.Tyr103ThrfsTer?) c.145del (p.Tyr49ThrfsTer?) c.271del (p.Tyr91ThrfsTer?) c.268del (p.Tyr90ThrfsTer?) n.953del c.280del (p.Tyr94ThrfsTer?) n.876del | COSMIC |
| 22 | g.29642232T>A | CA411153781 | NF2 | c.394T>A (p.Tyr132Asn) c.*276T>A (n.*276T>A) c.307T>A (p.Tyr103Asn) c.145T>A (p.Tyr49Asn) c.271T>A (p.Tyr91Asn) c.268T>A (p.Tyr90Asn) n.953T>A c.280T>A (p.Tyr94Asn) n.876T>A | dbSNP |
| 22 | g.29642232T>C | CA411153782 | NF2 | c.394T>C (p.Tyr132His) c.*276T>C (n.*276T>C) c.307T>C (p.Tyr103His) c.145T>C (p.Tyr49His) c.271T>C (p.Tyr91His) c.268T>C (p.Tyr90His) n.953T>C c.280T>C (p.Tyr94His) n.876T>C | |
| 22 | g.29642232T>G | CA411153783 | NF2 | c.394T>G (p.Tyr132Asp) c.*276T>G (n.*276T>G) c.307T>G (p.Tyr103Asp) c.145T>G (p.Tyr49Asp) c.271T>G (p.Tyr91Asp) c.268T>G (p.Tyr90Asp) n.953T>G c.280T>G (p.Tyr94Asp) n.876T>G | |
| 22 | g.29642233A>C | CA411153784 | NF2 | c.395A>C (p.Tyr132Ser) c.*277A>C (n.*277A>C) c.308A>C (p.Tyr103Ser) c.146A>C (p.Tyr49Ser) c.272A>C (p.Tyr91Ser) c.269A>C (p.Tyr90Ser) n.954A>C c.281A>C (p.Tyr94Ser) n.877A>C | dbSNP |
| 22 | g.29642233A>G | CA411153785 | NF2 | c.395A>G (p.Tyr132Cys) c.*277A>G (n.*277A>G) c.308A>G (p.Tyr103Cys) c.146A>G (p.Tyr49Cys) c.272A>G (p.Tyr91Cys) c.269A>G (p.Tyr90Cys) n.954A>G c.281A>G (p.Tyr94Cys) n.877A>G | ClinVar |
| 22 | g.29642233A>T | CA411153786 | NF2 | c.395A>T (p.Tyr132Phe) c.*277A>T (n.*277A>T) c.308A>T (p.Tyr103Phe) c.146A>T (p.Tyr49Phe) c.272A>T (p.Tyr91Phe) c.269A>T (p.Tyr90Phe) n.954A>T c.281A>T (p.Tyr94Phe) n.877A>T | dbSNP |
| 22 | g.29642234C>A | CA411153787 | NF2 | c.396C>A (p.Tyr132Ter) c.*278C>A (n.*278C>A) c.309C>A (p.Tyr103Ter) c.147C>A (p.Tyr49Ter) c.273C>A (p.Tyr91Ter) c.270C>A (p.Tyr90Ter) n.955C>A c.282C>A (p.Tyr94Ter) n.878C>A | COSMIC COSMIC |
| 22 | g.29642234C= | CA2400669567 | NF2 | c.396C= (p.Tyr132=) c.*278C= (n.*278C=) c.309C= (p.Tyr103=) c.147C= (p.Tyr49=) c.273C= (p.Tyr91=) c.270C= (p.Tyr90=) n.955C= c.282C= (p.Tyr94=) n.878C= | |
| 22 | g.29642234C>G | CA411153788 | NF2 | c.396C>G (p.Tyr132Ter) c.*278C>G (n.*278C>G) c.309C>G (p.Tyr103Ter) c.147C>G (p.Tyr49Ter) c.273C>G (p.Tyr91Ter) c.270C>G (p.Tyr90Ter) n.955C>G c.282C>G (p.Tyr94Ter) n.878C>G | dbSNP |
| 22 | g.29642234C>T | CA032727 | NF2 | c.396C>T (p.Tyr132=) c.*278C>T (n.*278C>T) c.309C>T (p.Tyr103=) c.147C>T (p.Tyr49=) c.273C>T (p.Tyr91=) c.270C>T (p.Tyr90=) n.955C>T c.282C>T (p.Tyr94=) n.878C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.29642235T>A | CA411153791 | NF2 | c.397T>A (p.Cys133Ser) c.*279T>A (n.*279T>A) c.310T>A (p.Cys104Ser) c.148T>A (p.Cys50Ser) c.274T>A (p.Cys92Ser) c.271T>A (p.Cys91Ser) n.956T>A c.283T>A (p.Cys95Ser) n.879T>A | dbSNP |
| 22 | g.29642235T>C | CA411153790 | NF2 | c.397T>C (p.Cys133Arg) c.*279T>C (n.*279T>C) c.310T>C (p.Cys104Arg) c.148T>C (p.Cys50Arg) c.274T>C (p.Cys92Arg) c.271T>C (p.Cys91Arg) n.956T>C c.283T>C (p.Cys95Arg) n.879T>C | |
| 22 | g.29642235T>G | CA411153789 | NF2 | c.397T>G (p.Cys133Gly) c.*279T>G (n.*279T>G) c.310T>G (p.Cys104Gly) c.148T>G (p.Cys50Gly) c.274T>G (p.Cys92Gly) c.271T>G (p.Cys91Gly) n.956T>G c.283T>G (p.Cys95Gly) n.879T>G | |
| 22 | g.29642236G>A | CA411153792 | NF2 | c.398G>A (p.Cys133Tyr) c.*280G>A (n.*280G>A) c.311G>A (p.Cys104Tyr) c.149G>A (p.Cys50Tyr) c.275G>A (p.Cys92Tyr) c.272G>A (p.Cys91Tyr) n.957G>A c.284G>A (p.Cys95Tyr) n.880G>A | COSMIC COSMIC |
| 22 | g.29642236G>C | CA033237 | NF2 | c.398G>C (p.Cys133Ser) c.*280G>C (n.*280G>C) c.311G>C (p.Cys104Ser) c.149G>C (p.Cys50Ser) c.275G>C (p.Cys92Ser) c.272G>C (p.Cys91Ser) n.957G>C c.284G>C (p.Cys95Ser) n.880G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.29642236G= | CA2400669568 | NF2 | c.398G= (p.Cys133=) c.*280G= (n.*280G=) c.311G= (p.Cys104=) c.149G= (p.Cys50=) c.275G= (p.Cys92=) c.272G= (p.Cys91=) n.957G= c.284G= (p.Cys95=) n.880G= | |
| 22 | g.29642236G>T | CA411153793 | NF2 | c.398G>T (p.Cys133Phe) c.*280G>T (n.*280G>T) c.311G>T (p.Cys104Phe) c.149G>T (p.Cys50Phe) c.275G>T (p.Cys92Phe) c.272G>T (p.Cys91Phe) n.957G>T c.284G>T (p.Cys95Phe) n.880G>T | |
| 22 | g.29642237C>A | CA411153794 | NF2 | c.399C>A (p.Cys133Ter) c.*281C>A (n.*281C>A) c.312C>A (p.Cys104Ter) c.150C>A (p.Cys50Ter) c.276C>A (p.Cys92Ter) c.273C>A (p.Cys91Ter) n.958C>A c.285C>A (p.Cys95Ter) n.881C>A | |
| 22 | g.29642237C= | CA2400669569 | NF2 | c.399C= (p.Cys133=) c.*281C= (n.*281C=) c.312C= (p.Cys104=) c.150C= (p.Cys50=) c.276C= (p.Cys92=) c.273C= (p.Cys91=) n.958C= c.285C= (p.Cys95=) n.881C= | |
| 22 | g.29642237C>G | CA411153795 | NF2 | c.399C>G (p.Cys133Trp) c.*281C>G (n.*281C>G) c.312C>G (p.Cys104Trp) c.150C>G (p.Cys50Trp) c.276C>G (p.Cys92Trp) c.273C>G (p.Cys91Trp) n.958C>G c.285C>G (p.Cys95Trp) n.881C>G | dbSNP |
| 22 | g.29642237C>T | CA514192349 | NF2 | c.399C>T (p.Cys133=) c.*281C>T (n.*281C>T) c.312C>T (p.Cys104=) c.150C>T (p.Cys50=) c.276C>T (p.Cys92=) c.273C>T (p.Cys91=) n.958C>T c.285C>T (p.Cys95=) n.881C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.29642239del | CA514192350 | NF2 | c.401del (p.Pro134LeufsTer?) c.*283del (n.*283del) c.314del (p.Pro105LeufsTer?) c.152del (p.Pro51LeufsTer?) c.278del (p.Pro93LeufsTer?) c.275del (p.Pro92LeufsTer?) n.960del c.287del (p.Pro96LeufsTer?) n.883del | COSMIC COSMIC |
| 22 | g.29642238C>A | CA411153796 | NF2 | c.400C>A (p.Pro134Thr) c.*282C>A (n.*282C>A) c.313C>A (p.Pro105Thr) c.151C>A (p.Pro51Thr) c.277C>A (p.Pro93Thr) c.274C>A (p.Pro92Thr) n.959C>A c.286C>A (p.Pro96Thr) n.882C>A | dbSNP |
| 22 | g.29642238C= | CA2400669570 | NF2 | c.400C= (p.Pro134=) c.*282C= (n.*282C=) c.313C= (p.Pro105=) c.151C= (p.Pro51=) c.277C= (p.Pro93=) c.274C= (p.Pro92=) n.959C= c.286C= (p.Pro96=) n.882C= | |
| 22 | g.29642238C>G | CA411153797 | NF2 | c.400C>G (p.Pro134Ala) c.*282C>G (n.*282C>G) c.313C>G (p.Pro105Ala) c.151C>G (p.Pro51Ala) c.277C>G (p.Pro93Ala) c.274C>G (p.Pro92Ala) n.959C>G c.286C>G (p.Pro96Ala) n.882C>G | dbSNP |
| 22 | g.29642238C>T | CA411153798 | NF2 | c.400C>T (p.Pro134Ser) c.*282C>T (n.*282C>T) c.313C>T (p.Pro105Ser) c.151C>T (p.Pro51Ser) c.277C>T (p.Pro93Ser) c.274C>T (p.Pro92Ser) n.959C>T c.286C>T (p.Pro96Ser) n.882C>T | ClinVar dbSNP |
| 22 | g.29642239C>A | CA411153799 | NF2 | c.401C>A (p.Pro134His) c.*283C>A (n.*283C>A) c.314C>A (p.Pro105His) c.152C>A (p.Pro51His) c.278C>A (p.Pro93His) c.275C>A (p.Pro92His) n.960C>A c.287C>A (p.Pro96His) n.883C>A | dbSNP COSMIC COSMIC |
| 22 | g.29642239C= | CA2400669571 | NF2 | c.401C= (p.Pro134=) c.*283C= (n.*283C=) c.314C= (p.Pro105=) c.152C= (p.Pro51=) c.278C= (p.Pro93=) c.275C= (p.Pro92=) n.960C= c.287C= (p.Pro96=) n.883C= | |
| 22 | g.29642239C>G | CA411153800 | NF2 | c.401C>G (p.Pro134Arg) c.*283C>G (n.*283C>G) c.314C>G (p.Pro105Arg) c.152C>G (p.Pro51Arg) c.278C>G (p.Pro93Arg) c.275C>G (p.Pro92Arg) n.960C>G c.287C>G (p.Pro96Arg) n.883C>G | dbSNP |
| 22 | g.29642239C>T | CA323123711 | NF2 | c.401C>T (p.Pro134Leu) c.*283C>T (n.*283C>T) c.314C>T (p.Pro105Leu) c.152C>T (p.Pro51Leu) c.278C>T (p.Pro93Leu) c.275C>T (p.Pro92Leu) n.960C>T c.287C>T (p.Pro96Leu) n.883C>T | ClinVar dbSNP |
| 22 | g.29642245_29642261dup | CA2739290377 | NF2 | c.407_423dup (p.Ala142ArgfsTer?) c.*289_*305dup (n.*289_*305dup) c.320_336dup (p.Ala113ArgfsTer?) c.158_174dup (p.Ala59ArgfsTer?) c.284_300dup (p.Ala101ArgfsTer?) c.281_297dup (p.Ala100ArgfsTer?) c.407_423dup (p.Ala142ArgfsTer33) n.966_982dup c.293_309dup (p.Ala104ArgfsTer?) n.889_905dup | |
| 22 | g.29642240T>A | CA514192351 | NF2 | c.402T>A (p.Pro134=) c.*284T>A (n.*284T>A) c.315T>A (p.Pro105=) c.153T>A (p.Pro51=) c.279T>A (p.Pro93=) c.276T>A (p.Pro92=) n.961T>A c.288T>A (p.Pro96=) n.884T>A |