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.102851691_102851692delinsGA | CA2059444334 | PAH | c.907_908delinsTC (p.Ser303=) c.892_893delinsTC (p.Ser298=) n.666_667delinsTC n.569_570delinsTC c.68_69delinsTC | |
| 12 | g.102851692A= | CA2059444354 | PAH | c.907T= (p.Ser303=) c.892T= (p.Ser298=) n.666T= n.569T= c.68T= | |
| 12 | g.102851692A>C | CA229842 | PAH | c.907T>G (p.Ser303Ala) c.892T>G (p.Ser298Ala) n.666T>G n.569T>G c.68T>G | ClinVar dbSNP |
| 12 | g.102851692A>G | CA229841 | PAH | c.907T>C (p.Ser303Pro) c.892T>C (p.Ser298Pro) n.666T>C n.569T>C c.68T>C | ClinVar dbSNP |
| 12 | g.102851692A>T | CA386294119 | PAH | c.907T>A (p.Ser303Thr) c.892T>A (p.Ser298Thr) n.666T>A n.569T>A c.68T>A | |
| 12 | g.102851695del | CA229840 | PAH | c.907del (p.Ser303ProfsTer?) c.892del (p.Ser298ProfsTer?) n.666del n.569del c.68del c.907del (p.Ser303ProfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102851693A>C | CA386294126 | PAH | c.906T>G (p.Phe302Leu) c.891T>G (p.Phe297Leu) n.665T>G n.568T>G c.67T>G | |
| 12 | g.102851693A>G | CA481331288 | PAH | c.906T>C (p.Phe302=) c.891T>C (p.Phe297=) n.665T>C n.568T>C c.67T>C | |
| 12 | g.102851693A>T | CA386294130 | PAH | c.906T>A (p.Phe302Leu) c.891T>A (p.Phe297Leu) n.665T>A n.568T>A c.67T>A | |
| 12 | g.102851694A>C | CA386294146 | PAH | c.905T>G (p.Phe302Cys) c.890T>G (p.Phe297Cys) n.664T>G n.567T>G c.66T>G | |
| 12 | g.102851694A>G | CA386294137 | PAH | c.905T>C (p.Phe302Ser) c.890T>C (p.Phe297Ser) n.664T>C n.567T>C c.66T>C | |
| 12 | g.102851694A>T | CA386294133 | PAH | c.905T>A (p.Phe302Tyr) c.890T>A (p.Phe297Tyr) n.664T>A n.567T>A c.66T>A | gnomAD v4 |
| 12 | g.102851695A>C | CA386294151 | PAH | c.904T>G (p.Phe302Val) c.889T>G (p.Phe297Val) n.663T>G n.566T>G c.65T>G | |
| 12 | g.102851695A>G | CA386294154 | PAH | c.904T>C (p.Phe302Leu) c.889T>C (p.Phe297Leu) n.663T>C n.566T>C c.65T>C | |
| 12 | g.102851695A>T | CA386294157 | PAH | c.904T>A (p.Phe302Ile) c.889T>A (p.Phe297Ile) n.663T>A n.566T>A c.65T>A | |
| 12 | g.102851696C>A | CA16020890 | PAH | c.903G>T (p.Gln301His) c.888G>T (p.Gln296His) n.662G>T n.565G>T c.64G>T | ClinVar dbSNP |
| 12 | g.102851696C= | CA2059444364 | PAH | c.903G= (p.Gln301=) c.888G= (p.Gln296=) n.662G= n.565G= c.64G= | |
| 12 | g.102851696C>G | CA386294168 | PAH | c.903G>C (p.Gln301His) c.888G>C (p.Gln296His) n.662G>C n.565G>C c.64G>C | |
| 12 | g.102851696C>T | CA481331289 | PAH | c.903G>A (p.Gln301=) c.888G>A (p.Gln296=) n.662G>A n.565G>A c.64G>A | |
| 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 |