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 |
|---|---|---|---|---|---|
| 12 | g.102843648_102846953del | CA251545 | PAH | c.914_1199+1del c.899_1184+1del n.673_958+1del n.576_861+1del c.74-2519_303+1del n.429_714+1del c.913-2519_1142+1del | ClinVar |
| 12 | g.102844408A>C | CA386493488 | PAH | c.993T>G (p.Phe331Leu) c.978T>G (p.Phe326Leu) n.752T>G n.655T>G c.97T>G n.508T>G c.936T>G (p.Phe312Leu) | |
| 12 | g.102844408A>G | CA481375784 | PAH | c.993T>C (p.Phe331=) c.978T>C (p.Phe326=) n.752T>C n.655T>C c.97T>C n.508T>C c.936T>C (p.Phe312=) | ClinVar gnomAD v4 |
| 12 | g.102844408A>T | CA386493489 | PAH | c.993T>A (p.Phe331Leu) c.978T>A (p.Phe326Leu) n.752T>A n.655T>A c.97T>A n.508T>A c.936T>A (p.Phe312Leu) | |
| 12 | g.102844409A= | CA2059448462 | PAH | c.992T= (p.Phe331=) c.977T= (p.Phe326=) n.751T= n.654T= c.96T= n.507T= c.935T= (p.Phe312=) | |
| 12 | g.102844409A>C | CA229895 | PAH | c.992T>G (p.Phe331Cys) c.977T>G (p.Phe326Cys) n.751T>G n.654T>G c.96T>G n.507T>G c.935T>G (p.Phe312Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844409A>G | CA16020915 | PAH | c.992T>C (p.Phe331Ser) c.977T>C (p.Phe326Ser) n.751T>C n.654T>C c.96T>C n.507T>C c.935T>C (p.Phe312Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844409A>T | CA386493490 | PAH | c.992T>A (p.Phe331Tyr) c.977T>A (p.Phe326Tyr) n.751T>A n.654T>A c.96T>A n.507T>A c.935T>A (p.Phe312Tyr) | |
| 12 | g.102844410A= | CA2059448478 | PAH | c.991T= (p.Phe331=) c.976T= (p.Phe326=) n.750T= n.653T= c.95T= n.506T= c.934T= (p.Phe312=) | |
| 12 | g.102844410A>C | CA386493491 | PAH | c.991T>G (p.Phe331Val) c.976T>G (p.Phe326Val) n.750T>G n.653T>G c.95T>G n.506T>G c.934T>G (p.Phe312Val) | |
| 12 | g.102844410A>G | CA229894 | PAH | c.991T>C (p.Phe331Leu) c.976T>C (p.Phe326Leu) n.750T>C n.653T>C c.95T>C n.506T>C c.934T>C (p.Phe312Leu) | ClinVar dbSNP COSMIC |
| 12 | g.102844410A>T | CA386493492 | PAH | c.991T>A (p.Phe331Ile) c.976T>A (p.Phe326Ile) n.750T>A n.653T>A c.95T>A n.506T>A c.934T>A (p.Phe312Ile) | |
| 12 | g.102844411C>A | CA386493493 | PAH | c.990G>T (p.Glu330Asp) c.975G>T (p.Glu325Asp) n.749G>T n.652G>T c.94G>T n.505G>T c.933G>T (p.Glu311Asp) | |
| 12 | g.102844411C= | CA2059448480 | PAH | c.990G= (p.Glu330=) c.975G= (p.Glu325=) n.749G= n.652G= c.94G= n.505G= c.933G= (p.Glu311=) | |
| 12 | g.102844411C>G | CA229893 | PAH | c.990G>C (p.Glu330Asp) c.975G>C (p.Glu325Asp) n.749G>C n.652G>C c.94G>C n.505G>C c.933G>C (p.Glu311Asp) | ClinVar dbSNP |
| 12 | g.102844411C>T | CA481375785 | PAH | c.990G>A (p.Glu330=) c.975G>A (p.Glu325=) n.749G>A n.652G>A c.94G>A n.505G>A c.933G>A (p.Glu311=) | ClinVar |
| 12 | g.102844412T>A | CA386493496 | PAH | c.989A>T (p.Glu330Val) c.974A>T (p.Glu325Val) n.748A>T n.651A>T c.93A>T n.504A>T c.932A>T (p.Glu311Val) | |
| 12 | g.102844412T>C | CA386493495 | PAH | c.989A>G (p.Glu330Gly) c.974A>G (p.Glu325Gly) n.748A>G n.651A>G c.93A>G n.504A>G c.932A>G (p.Glu311Gly) | |
| 12 | g.102844412T>G | CA386493494 | PAH | c.989A>C (p.Glu330Ala) c.974A>C (p.Glu325Ala) n.748A>C n.651A>C c.93A>C n.504A>C c.932A>C (p.Glu311Ala) | |
| 12 | g.102844413C>A | CA386493499 | PAH | c.988G>T (p.Glu330Ter) c.973G>T (p.Glu325Ter) n.747G>T n.650G>T c.92G>T n.503G>T c.931G>T (p.Glu311Ter) | |
| 12 | g.102844413C= | CA2059448483 | PAH | c.988G= (p.Glu330=) c.973G= (p.Glu325=) n.747G= n.650G= c.92G= n.503G= c.931G= (p.Glu311=) | |
| 12 | g.102844413C>G | CA386493497 | PAH | c.988G>C (p.Glu330Gln) c.973G>C (p.Glu325Gln) n.747G>C n.650G>C c.92G>C n.503G>C c.931G>C (p.Glu311Gln) | |
| 12 | g.102844413C>T | CA386493498 | PAH | c.988G>A (p.Glu330Lys) c.973G>A (p.Glu325Lys) n.747G>A n.650G>A c.92G>A n.503G>A c.931G>A (p.Glu311Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102844413_102844414insACCCAA | CA2797243630 | PAH | c.987_988insTTGGGT (p.Val329_Glu330insLeuGly) c.972_973insTTGGGT (p.Val324_Glu325insLeuGly) n.746_747insTTGGGT n.649_650insTTGGGT c.91_92insTTGGGT n.502_503insTTGGGT c.930_931insTTGGGT (p.Val310_Glu311insLeuGly) | |
| 12 | g.102844414C>A | CA481375786 | PAH | c.987G>T (p.Val329=) c.972G>T (p.Val324=) n.746G>T n.649G>T c.91G>T n.502G>T c.930G>T (p.Val310=) | |
| 12 | g.102844414C= | CA2059448490 | PAH | c.987G= (p.Val329=) c.972G= (p.Val324=) n.746G= n.649G= c.91G= n.502G= c.930G= (p.Val310=) | |
| 12 | g.102844414C>G | CA481375787 | PAH | c.987G>C (p.Val329=) c.972G>C (p.Val324=) n.746G>C n.649G>C c.91G>C n.502G>C c.930G>C (p.Val310=) | |
| 12 | g.102844414C>T | CA481375788 | PAH | c.987G>A (p.Val329=) c.972G>A (p.Val324=) n.746G>A n.649G>A c.91G>A n.502G>A c.930G>A (p.Val310=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844416_102844417del | CA2695217229 | PAH | c.986_987del (p.Val329GlyfsTer24) c.971_972del (p.Val324GlyfsTer24) n.745_746del n.648_649del c.90_91del n.501_502del c.929_930del (p.Val310GlyfsTer24) | |
| 12 | g.102844415A= | CA2059448493 | PAH | c.986T= (p.Val329=) c.971T= (p.Val324=) n.745T= n.648T= c.90T= n.501T= c.929T= (p.Val310=) | |
| 12 | g.102844415A>C | CA386493500 | PAH | c.986T>G (p.Val329Gly) c.971T>G (p.Val324Gly) n.745T>G n.648T>G c.90T>G n.501T>G c.929T>G (p.Val310Gly) | |
| 12 | g.102844415A>G | CA6748771 | PAH | c.986T>C (p.Val329Ala) c.971T>C (p.Val324Ala) n.745T>C n.648T>C c.90T>C n.501T>C c.929T>C (p.Val310Ala) | dbSNP ExAC gnomAD v2 |
| 12 | g.102844415A>T | CA386493501 | PAH | c.986T>A (p.Val329Glu) c.971T>A (p.Val324Glu) n.745T>A n.648T>A c.90T>A n.501T>A c.929T>A (p.Val310Glu) | |
| 12 | g.102844416C>A | CA386493502 | PAH | c.985G>T (p.Val329Leu) c.970G>T (p.Val324Leu) n.744G>T n.647G>T c.89G>T n.500G>T c.928G>T (p.Val310Leu) | COSMIC |
| 12 | g.102844416C= | CA2059448499 | PAH | c.985G= (p.Val329=) c.970G= (p.Val324=) n.744G= n.647G= c.89G= n.500G= c.928G= (p.Val310=) | |
| 12 | g.102844416C>G | CA386493503 | PAH | c.985G>C (p.Val329Leu) c.970G>C (p.Val324Leu) n.744G>C n.647G>C c.89G>C n.500G>C c.928G>C (p.Val310Leu) | |
| 12 | g.102844416C>T | CA242744487 | PAH | c.985G>A (p.Val329Met) c.970G>A (p.Val324Met) n.744G>A n.647G>A c.89G>A n.500G>A c.928G>A (p.Val310Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844417A>C | CA481375789 | PAH | c.984T>G (p.Thr328=) c.969T>G (p.Thr323=) n.743T>G n.646T>G c.88T>G n.499T>G c.927T>G (p.Thr309=) | gnomAD v4 |
| 12 | g.102844417A>G | CA481375790 | PAH | c.984T>C (p.Thr328=) c.969T>C (p.Thr323=) n.743T>C n.646T>C c.88T>C n.499T>C c.927T>C (p.Thr309=) | |
| 12 | g.102844417A>T | CA481375791 | PAH | c.984T>A (p.Thr328=) c.969T>A (p.Thr323=) n.743T>A n.646T>A c.88T>A n.499T>A c.927T>A (p.Thr309=) | |
| 12 | g.102844418G>A | CA10603804 | PAH | c.983C>T (p.Thr328Ile) c.968C>T (p.Thr323Ile) n.742C>T n.645C>T c.87C>T n.498C>T c.926C>T (p.Thr309Ile) | ClinVar dbSNP |
| 12 | g.102844418G>C | CA386493504 | PAH | c.983C>G (p.Thr328Ser) c.968C>G (p.Thr323Ser) n.742C>G n.645C>G c.87C>G n.498C>G c.926C>G (p.Thr309Ser) | |
| 12 | g.102844418G= | CA2059448507 | PAH | c.983C= (p.Thr328=) c.968C= (p.Thr323=) n.742C= n.645C= c.87C= n.498C= c.926C= (p.Thr309=) | |
| 12 | g.102844418G>T | CA16020914 | PAH | c.983C>A (p.Thr328Asn) c.968C>A (p.Thr323Asn) n.742C>A n.645C>A c.87C>A n.498C>A c.926C>A (p.Thr309Asn) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844419T>A | CA386493505 | PAH | c.982A>T (p.Thr328Ser) c.967A>T (p.Thr323Ser) n.741A>T n.644A>T c.86A>T n.497A>T c.925A>T (p.Thr309Ser) | |
| 12 | g.102844419T>C | CA229891 | PAH | c.982A>G (p.Thr328Ala) c.967A>G (p.Thr323Ala) n.741A>G n.644A>G c.86A>G n.497A>G c.925A>G (p.Thr309Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844419T>G | CA386493506 | PAH | c.982A>C (p.Thr328Pro) c.967A>C (p.Thr323Pro) n.741A>C n.644A>C c.86A>C n.497A>C c.925A>C (p.Thr309Pro) | |
| 12 | g.102844419T= | CA2059448514 | PAH | c.982A= (p.Thr328=) c.967A= (p.Thr323=) n.741A= n.644A= c.86A= n.497A= c.925A= (p.Thr309=) | |
| 12 | g.102844420A= | CA2059448520 | PAH | c.981T= (p.Phe327=) c.966T= (p.Phe322=) n.740T= n.643T= c.85T= n.496T= c.924T= (p.Phe308=) | |
| 12 | g.102844420A>C | CA229889 | PAH | c.981T>G (p.Phe327Leu) c.966T>G (p.Phe322Leu) n.740T>G n.643T>G c.85T>G n.496T>G c.924T>G (p.Phe308Leu) | ClinVar dbSNP |