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.102851697T>A | CA386294171 | PAH | c.902A>T (p.Gln301Leu) c.887A>T (p.Gln296Leu) n.661A>T n.564A>T c.63A>T | |
| 12 | g.102851697T>C | CA386294182 | PAH | c.902A>G (p.Gln301Arg) c.887A>G (p.Gln296Arg) n.661A>G n.564A>G c.63A>G | |
| 12 | g.102851697T>G | CA16020889 | PAH | c.902A>C (p.Gln301Pro) c.887A>C (p.Gln296Pro) n.661A>C n.564A>C c.63A>C | ClinVar dbSNP |
| 12 | g.102851697T= | CA2059444375 | PAH | c.902A= (p.Gln301=) c.887A= (p.Gln296=) n.661A= n.564A= c.63A= | |
| 12 | g.102851698G>A | CA16020888 | PAH | c.901C>T (p.Gln301Ter) c.886C>T (p.Gln296Ter) n.660C>T n.563C>T c.62C>T | ClinVar dbSNP |
| 12 | g.102851698G>C | CA386294191 | PAH | c.901C>G (p.Gln301Glu) c.886C>G (p.Gln296Glu) n.660C>G n.563C>G c.62C>G | |
| 12 | g.102851698G= | CA2059444389 | PAH | c.901C= (p.Gln301=) c.886C= (p.Gln296=) n.660C= n.563C= c.62C= | |
| 12 | g.102851698G>T | CA16606056 | PAH | c.901C>A (p.Gln301Lys) c.886C>A (p.Gln296Lys) n.660C>A n.563C>A c.62C>A | ClinVar dbSNP |
| 12 | g.102851700del | CA2697551512 | PAH | c.901del (p.Gln301SerfsTer?) c.886del (p.Gln296SerfsTer?) n.660del n.563del c.62del c.901del (p.Gln301SerfsTer21) | ClinVar |
| 12 | g.102851699G>A | CA481331290 | PAH | c.900C>T (p.Ala300=) c.885C>T (p.Ala295=) n.659C>T n.562C>T c.61C>T | |
| 12 | g.102851699G>C | CA481331292 | PAH | c.900C>G (p.Ala300=) c.885C>G (p.Ala295=) n.659C>G n.562C>G c.61C>G | |
| 12 | g.102851699G>T | CA481331291 | PAH | c.900C>A (p.Ala300=) c.885C>A (p.Ala295=) n.659C>A n.562C>A c.61C>A | |
| 12 | g.102851700G>A | CA229839 | PAH | c.899C>T (p.Ala300Val) c.884C>T (p.Ala295Val) n.658C>T n.561C>T c.60C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102851700G>C | CA386294199 | PAH | c.899C>G (p.Ala300Gly) c.884C>G (p.Ala295Gly) n.658C>G n.561C>G c.60C>G | ClinVar |
| 12 | g.102851700G= | CA2059444403 | PAH | c.899C= (p.Ala300=) c.884C= (p.Ala295=) n.658C= n.561C= c.60C= | |
| 12 | g.102851700G>T | CA386294197 | PAH | c.899C>A (p.Ala300Asp) c.884C>A (p.Ala295Asp) n.658C>A n.561C>A c.60C>A | gnomAD v4 |
| 12 | g.102851701C>A | CA273108 | PAH | c.898G>T (p.Ala300Ser) c.883G>T (p.Ala295Ser) n.657G>T n.560G>T c.59G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102851701C= | CA2059444413 | PAH | c.898G= (p.Ala300=) c.883G= (p.Ala295=) n.657G= n.560G= c.59G= | |
| 12 | g.102851701C>G | CA386294214 | PAH | c.898G>C (p.Ala300Pro) c.883G>C (p.Ala295Pro) n.657G>C n.560G>C c.59G>C | |
| 12 | g.102851701C>T | CA386294218 | PAH | c.898G>A (p.Ala300Thr) c.883G>A (p.Ala295Thr) n.657G>A n.560G>A c.59G>A | |
| 12 | g.102851701_102851704delinsCAAA | CA2059444411 | PAH | c.895_898delinsTTTG (p.Phe299=) c.880_883delinsTTTG (p.Phe294=) n.654_657delinsTTTG n.557_560delinsTTTG c.56_59delinsTTTG | |
| 12 | g.102851702A= | CA2059444429 | PAH | c.897T= (p.Phe299=) c.882T= (p.Phe294=) n.656T= n.559T= c.58T= | |
| 12 | g.102851702A>C | CA386294224 | PAH | c.897T>G (p.Phe299Leu) c.882T>G (p.Phe294Leu) n.656T>G n.559T>G c.58T>G | |
| 12 | g.102851702A>G | CA10640709 | PAH | c.897T>C (p.Phe299=) c.882T>C (p.Phe294=) n.656T>C n.559T>C c.58T>C | ClinVar dbSNP |
| 12 | g.102851702A>T | CA386294230 | PAH | c.897T>A (p.Phe299Leu) c.882T>A (p.Phe294Leu) n.656T>A n.559T>A c.58T>A | |
| 12 | g.102851702_102851704del | CA229837 | PAH | c.895_897del (p.Phe299del) c.880_882del (p.Phe294del) n.654_656del n.557_559del c.56_58del | ClinVar dbSNP |
| 12 | g.102851703A= | CA2059444435 | PAH | c.896T= (p.Phe299=) c.881T= (p.Phe294=) n.655T= n.558T= c.57T= | |
| 12 | g.102851703A>C | CA251541 | PAH | c.896T>G (p.Phe299Cys) c.881T>G (p.Phe294Cys) n.655T>G n.558T>G c.57T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102851703A>G | CA16020887 | PAH | c.896T>C (p.Phe299Ser) c.881T>C (p.Phe294Ser) n.655T>C n.558T>C c.57T>C | ClinVar dbSNP |
| 12 | g.102851703A>T | CA386294258 | PAH | c.896T>A (p.Phe299Tyr) c.881T>A (p.Phe294Tyr) n.655T>A n.558T>A c.57T>A | COSMIC |
| 12 | g.102851704A= | CA2059444443 | PAH | c.895T= (p.Phe299=) c.880T= (p.Phe294=) n.654T= n.557T= c.56T= | |
| 12 | g.102851704A>C | CA386294263 | PAH | c.895T>G (p.Phe299Val) c.880T>G (p.Phe294Val) n.654T>G n.557T>G c.56T>G | |
| 12 | g.102851704A>G | CA275941 | PAH | c.895T>C (p.Phe299Leu) c.880T>C (p.Phe294Leu) n.654T>C n.557T>C c.56T>C | ClinVar dbSNP |
| 12 | g.102851704A>T | CA386294267 | PAH | c.895T>A (p.Phe299Ile) c.880T>A (p.Phe294Ile) n.654T>A n.557T>A c.56T>A | |
| 12 | g.102851705G>A | CA6748810 | PAH | c.894C>T (p.Ser298=) c.879C>T (p.Ser293=) n.653C>T n.556C>T c.55C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102851705G>C | CA386294272 | PAH | c.894C>G (p.Ser298Arg) c.879C>G (p.Ser293Arg) n.653C>G n.556C>G c.55C>G | |
| 12 | g.102851705G= | CA2059444454 | PAH | c.894C= (p.Ser298=) c.879C= (p.Ser293=) n.653C= n.556C= c.55C= | |
| 12 | g.102851705G>T | CA386294277 | PAH | c.894C>A (p.Ser298Arg) c.879C>A (p.Ser293Arg) n.653C>A n.556C>A c.55C>A | |
| 12 | g.102851706C>A | CA386294284 | PAH | c.893G>T (p.Ser298Ile) c.878G>T (p.Ser293Ile) n.652G>T n.555G>T c.54G>T | |
| 12 | g.102851706C= | CA2059444460 | PAH | c.893G= (p.Ser298=) c.878G= (p.Ser293=) n.652G= n.555G= c.54G= | |
| 12 | g.102851706C>G | CA386294288 | PAH | c.893G>C (p.Ser298Thr) c.878G>C (p.Ser293Thr) n.652G>C n.555G>C c.54G>C | |
| 12 | g.102851706C>T | CA386294291 | PAH | c.893G>A (p.Ser298Asn) c.878G>A (p.Ser293Asn) n.652G>A n.555G>A c.54G>A | dbSNP |
| 12 | g.102851707T>A | CA386294300 | PAH | c.892A>T (p.Ser298Cys) c.877A>T (p.Ser293Cys) n.651A>T n.554A>T c.53A>T | |
| 12 | g.102851707T>C | CA386294304 | PAH | c.892A>G (p.Ser298Gly) c.877A>G (p.Ser293Gly) n.651A>G n.554A>G c.53A>G | |
| 12 | g.102851707T>G | CA386294307 | PAH | c.892A>C (p.Ser298Arg) c.877A>C (p.Ser293Arg) n.651A>C n.554A>C c.53A>C | |
| 12 | g.102851708G>A | CA481331295 | PAH | c.891C>T (p.Arg297=) c.876C>T (p.Arg292=) n.650C>T n.553C>T c.52C>T | |
| 12 | g.102851708G>C | CA481331294 | PAH | c.891C>G (p.Arg297=) c.876C>G (p.Arg292=) n.650C>G n.553C>G c.52C>G | |
| 12 | g.102851708G>T | CA481331293 | PAH | c.891C>A (p.Arg297=) c.876C>A (p.Arg292=) n.650C>A n.553C>A c.52C>A | |
| 12 | g.102851709C>A | CA16020886 | PAH | c.890G>T (p.Arg297Leu) c.875G>T (p.Arg292Leu) n.649G>T n.552G>T c.51G>T | ClinVar dbSNP gnomAD v4 |