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.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
| 12 | g.102855155_102855353delinsTGG | CA2573147930 | PAH | c.510-21_687delinsCCA c.495-21_672delinsCCA n.606-21_783delinsCCA | ClinVar dbSNP |
| 12 | g.102855177_102855353del | CA16020833 | PAH | c.510-19_667del c.495-19_652del n.606-19_763del | ClinVar |
| 12 | g.102855294del | CA16020815 | PAH | c.551del (p.Lys184ArgfsTer11) c.536del (p.Lys179ArgfsTer11) n.647del n.572del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855294T>A | CA386296913 | PAH | c.548A>T (p.Glu183Val) c.533A>T (p.Glu178Val) n.644A>T n.569A>T | |
| 12 | g.102855294T>C | CA16020814 | PAH | c.548A>G (p.Glu183Gly) c.533A>G (p.Glu178Gly) n.644A>G n.569A>G | dbSNP gnomAD v4 |
| 12 | g.102855294T>G | CA386296916 | PAH | c.548A>C (p.Glu183Ala) c.533A>C (p.Glu178Ala) n.644A>C n.569A>C | |
| 12 | g.102855294T= | CA2059449721 | PAH | c.548A= (p.Glu183=) c.533A= (p.Glu178=) n.644A= n.569A= | |
| 12 | g.102855294_102855295delinsAA | CA267658 | PAH | c.547_548delinsTT (p.Glu183Leu) c.532_533delinsTT (p.Glu178Leu) n.643_644delinsTT n.568_569delinsTT | ClinVar dbSNP |
| 12 | g.102855294_102855295delinsTC | CA2059449718 | PAH | c.547_548delinsGA (p.Glu183=) c.532_533delinsGA (p.Glu178=) n.643_644delinsGA n.568_569delinsGA | |
| 12 | g.102855295C>A | CA386296920 | PAH | c.547G>T (p.Glu183Ter) c.532G>T (p.Glu178Ter) n.643G>T n.568G>T | ClinVar dbSNP |
| 12 | g.102855295C= | CA2059449735 | PAH | c.547G= (p.Glu183=) c.532G= (p.Glu178=) n.643G= n.568G= | |
| 12 | g.102855295C>G | CA229619 | PAH | c.547G>C (p.Glu183Gln) c.532G>C (p.Glu178Gln) n.643G>C n.568G>C | ClinVar dbSNP |
| 12 | g.102855295C>T | CA6748894 | PAH | c.547G>A (p.Glu183Lys) c.532G>A (p.Glu178Lys) n.643G>A n.568G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855296T>A | CA386296924 | PAH | c.546A>T (p.Glu182Asp) c.531A>T (p.Glu177Asp) n.642A>T n.567A>T | |
| 12 | g.102855296T>C | CA481578609 | PAH | c.546A>G (p.Glu182=) c.531A>G (p.Glu177=) n.642A>G n.567A>G | |
| 12 | g.102855296T>G | CA386296926 | PAH | c.546A>C (p.Glu182Asp) c.531A>C (p.Glu177Asp) n.642A>C n.567A>C | |
| 12 | g.102855296_102855299delinsTTCC | CA2059449741 | PAH | c.543_546delinsGGAA (p.Glu181=) c.528_531delinsGGAA (p.Glu176=) n.639_642delinsGGAA n.564_567delinsGGAA | |
| 12 | g.102855297T>A | CA386296928 | PAH | c.545A>T (p.Glu182Val) c.530A>T (p.Glu177Val) n.641A>T n.566A>T | |
| 12 | g.102855297T>C | CA229617 | PAH | c.545A>G (p.Glu182Gly) c.530A>G (p.Glu177Gly) n.641A>G n.566A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102855297T>G | CA386296931 | PAH | c.545A>C (p.Glu182Ala) c.530A>C (p.Glu177Ala) n.641A>C n.566A>C | |
| 12 | g.102855297T= | CA2059449749 | PAH | c.545A= (p.Glu182=) c.530A= (p.Glu177=) n.641A= n.566A= | |
| 12 | g.102855300_102855302del | CA1139532590 | PAH | c.543_545del (p.Glu182del) c.528_530del (p.Glu177del) n.639_641del n.564_566del | ClinVar dbSNP |
| 12 | g.102855298C>A | CA386296933 | PAH | c.544G>T (p.Glu182Ter) c.529G>T (p.Glu177Ter) n.640G>T n.565G>T | |
| 12 | g.102855298C>G | CA386296935 | PAH | c.544G>C (p.Glu182Gln) c.529G>C (p.Glu177Gln) n.640G>C n.565G>C | |
| 12 | g.102855298C>T | CA16020813 | PAH | c.544G>A (p.Glu182Lys) c.529G>A (p.Glu177Lys) n.640G>A n.565G>A | ClinVar dbSNP COSMIC |
| 12 | g.102855298_102855302del | CA2695217165 | PAH | c.540_544del (p.Met180IlefsTer18) c.525_529del (p.Met175IlefsTer18) n.636_640del n.561_565del | |
| 12 | g.102855299_102855302del | CA2695217164 | PAH | c.541_544del (p.Glu181LysfsTer13) c.526_529del (p.Glu176LysfsTer13) n.637_640del n.562_565del | |
| 12 | g.102855299C>A | CA386296938 | PAH | c.543G>T (p.Glu181Asp) c.528G>T (p.Glu176Asp) n.639G>T n.564G>T | |
| 12 | g.102855299C>G | CA386296940 | PAH | c.543G>C (p.Glu181Asp) c.528G>C (p.Glu176Asp) n.639G>C n.564G>C | |
| 12 | g.102855299C>T | CA481578613 | PAH | c.543G>A (p.Glu181=) c.528G>A (p.Glu176=) n.639G>A n.564G>A | ClinVar |
| 12 | g.102855300T>A | CA386296942 | PAH | c.542A>T (p.Glu181Val) c.527A>T (p.Glu176Val) n.638A>T n.563A>T | |
| 12 | g.102855300T>C | CA386296946 | PAH | c.542A>G (p.Glu181Gly) c.527A>G (p.Glu176Gly) n.638A>G n.563A>G | gnomAD v4 |
| 12 | g.102855300T>G | CA386296944 | PAH | c.542A>C (p.Glu181Ala) c.527A>C (p.Glu176Ala) n.638A>C n.563A>C | |
| 12 | g.102855301C>A | CA386296948 | PAH | c.541G>T (p.Glu181Ter) c.526G>T (p.Glu176Ter) n.637G>T n.562G>T | |
| 12 | g.102855301C= | CA2059449761 | PAH | c.541G= (p.Glu181=) c.526G= (p.Glu176=) n.637G= n.562G= | |
| 12 | g.102855301C>G | CA386296952 | PAH | c.541G>C (p.Glu181Gln) c.526G>C (p.Glu176Gln) n.637G>C n.562G>C | |
| 12 | g.102855301C>T | CA386296950 | PAH | c.541G>A (p.Glu181Lys) c.526G>A (p.Glu176Lys) n.637G>A n.562G>A | dbSNP COSMIC |
| 12 | g.102855302C>A | CA386296954 | PAH | c.540G>T (p.Met180Ile) c.525G>T (p.Met175Ile) n.636G>T n.561G>T | |
| 12 | g.102855302C>G | CA386296955 | PAH | c.540G>C (p.Met180Ile) c.525G>C (p.Met175Ile) n.636G>C n.561G>C | |
| 12 | g.102855302C>T | CA386296956 | PAH | c.540G>A (p.Met180Ile) c.525G>A (p.Met175Ile) n.636G>A n.561G>A | |
| 12 | g.102855303A= | CA2059449766 | PAH | c.539T= (p.Met180=) c.524T= (p.Met175=) n.635T= n.560T= | |
| 12 | g.102855303A>C | CA6748895 | PAH | c.539T>G (p.Met180Arg) c.524T>G (p.Met175Arg) n.635T>G n.560T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855303A>G | CA386296959 | PAH | c.539T>C (p.Met180Thr) c.524T>C (p.Met175Thr) n.635T>C n.560T>C | |
| 12 | g.102855303A>T | CA386296961 | PAH | c.539T>A (p.Met180Lys) c.524T>A (p.Met175Lys) n.635T>A n.560T>A | |
| 12 | g.102855304T>A | CA386296964 | PAH | c.538A>T (p.Met180Leu) c.523A>T (p.Met175Leu) n.634A>T n.559A>T | |
| 12 | g.102855304T>C | CA386296965 | PAH | c.538A>G (p.Met180Val) c.523A>G (p.Met175Val) n.634A>G n.559A>G | ClinVar dbSNP |
| 12 | g.102855304T>G | CA386296966 | PAH | c.538A>C (p.Met180Leu) c.523A>C (p.Met175Leu) n.634A>C n.559A>C | gnomAD v4 |
| 12 | g.102855304T= | CA2059449773 | PAH | c.538A= (p.Met180=) c.523A= (p.Met175=) n.634A= n.559A= | |
| 12 | g.102855305G>A | CA481578616 | PAH | c.537C>T (p.Tyr179=) c.522C>T (p.Tyr174=) n.633C>T n.558C>T | gnomAD v4 |