| 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.102851686C>A | CA16020895 | PAH | c.912+1G>T (n.912+1G>T) c.897+1G>T (n.897+1G>T) n.671+1G>T n.574+1G>T c.73+1G>T | ClinVar dbSNP |
| 12 | g.102851686C= | CA2059444311 | PAH | c.912+1G= (n.912+1G=) c.897+1G= (n.897+1G=) n.671+1G= n.574+1G= c.73+1G= | |
| 12 | g.102851686C>G | CA16020894 | PAH | c.912+1G>C (n.912+1G>C) c.897+1G>C (n.897+1G>C) n.671+1G>C n.574+1G>C c.73+1G>C | ClinVar dbSNP |
| 12 | g.102851686C>T | CA220591 | PAH | c.912+1G>A (n.912+1G>A) c.897+1G>A (n.897+1G>A) n.671+1G>A n.574+1G>A c.73+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102851687C>A | CA386294059 | PAH | c.912G>T (p.Gln304His) c.897G>T (p.Gln299His) n.671G>T n.574G>T c.73G>T | |
| 12 | g.102851687C= | CA2059444318 | PAH | c.912G= (p.Gln304=) c.897G= (p.Gln299=) n.671G= n.574G= c.73G= | |
| 12 | g.102851687C>G | CA386294054 | PAH | c.912G>C (p.Gln304His) c.897G>C (p.Gln299His) n.671G>C n.574G>C c.73G>C | |
| 12 | g.102851687C>T | CA229845 | PAH | c.912G>A (p.Gln304=) c.897G>A (p.Gln299=) n.671G>A n.574G>A c.73G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102851688T>A | CA386294062 | PAH | c.911A>T (p.Gln304Leu) c.896A>T (p.Gln299Leu) n.670A>T n.573A>T c.72A>T | |
| 12 | g.102851688T>C | CA229844 | PAH | c.911A>G (p.Gln304Arg) c.896A>G (p.Gln299Arg) n.670A>G n.573A>G c.72A>G | ClinVar dbSNP |
| 12 | g.102851688T>G | CA16020893 | PAH | c.911A>C (p.Gln304Pro) c.896A>C (p.Gln299Pro) n.670A>C n.573A>C c.72A>C | |
| 12 | g.102851688T= | CA2059444325 | PAH | c.911A= (p.Gln304=) c.896A= (p.Gln299=) n.670A= n.573A= c.72A= | |
| 12 | g.102851689G>A | CA16020892 | PAH | c.910C>T (p.Gln304Ter) c.895C>T (p.Gln299Ter) n.669C>T n.572C>T c.71C>T | ClinVar dbSNP |
| 12 | g.102851689G>C | CA386294078 | PAH | c.910C>G (p.Gln304Glu) c.895C>G (p.Gln299Glu) n.669C>G n.572C>G c.71C>G | |
| 12 | g.102851689G= | CA2059444328 | PAH | c.910C= (p.Gln304=) c.895C= (p.Gln299=) n.669C= n.572C= c.71C= | |
| 12 | g.102851689G>T | CA16020891 | PAH | c.910C>A (p.Gln304Lys) c.895C>A (p.Gln299Lys) n.669C>A n.572C>A c.71C>A | ClinVar dbSNP |
| 12 | g.102851690G>A | CA481331285 | PAH | c.909C>T (p.Ser303=) c.894C>T (p.Ser298=) n.668C>T n.571C>T c.70C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102851690G>C | CA481331286 | PAH | c.909C>G (p.Ser303=) c.894C>G (p.Ser298=) n.668C>G n.571C>G c.70C>G | |
| 12 | g.102851690G= | CA2059444332 | PAH | c.909C= (p.Ser303=) c.894C= (p.Ser298=) n.668C= n.571C= c.70C= | |
| 12 | g.102851690G>T | CA481331287 | PAH | c.909C>A (p.Ser303=) c.894C>A (p.Ser298=) n.668C>A n.571C>A c.70C>A | |
| 12 | g.102851691G>A | CA386294087 | PAH | c.908C>T (p.Ser303Phe) c.893C>T (p.Ser298Phe) n.667C>T n.570C>T c.69C>T | gnomAD v4 COSMIC |
| 12 | g.102851691G>C | CA386294091 | PAH | c.908C>G (p.Ser303Cys) c.893C>G (p.Ser298Cys) n.667C>G n.570C>G c.69C>G | |
| 12 | g.102851691G>T | CA386294096 | PAH | c.908C>A (p.Ser303Tyr) c.893C>A (p.Ser298Tyr) n.667C>A n.570C>A c.69C>A | |
| 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= |