| 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.102844399G>A | CA6748769 | PAH | c.1002C>T (p.Cys334=) c.987C>T (p.Cys329=) n.761C>T n.664C>T c.106C>T n.517C>T c.945C>T (p.Cys315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844399G>C | CA386493474 | PAH | c.1002C>G (p.Cys334Trp) c.987C>G (p.Cys329Trp) n.761C>G n.664C>G c.106C>G n.517C>G c.945C>G (p.Cys315Trp) | |
| 12 | g.102844399G= | CA2059448419 | PAH | c.1002C= (p.Cys334=) c.987C= (p.Cys329=) n.761C= n.664C= c.106C= n.517C= c.945C= (p.Cys315=) | |
| 12 | g.102844399G>T | CA16020918 | PAH | c.1002C>A (p.Cys334Ter) c.987C>A (p.Cys329Ter) n.761C>A n.664C>A c.106C>A n.517C>A c.945C>A (p.Cys315Ter) | ClinVar dbSNP |
| 12 | g.102844400C>A | CA386493475 | PAH | c.1001G>T (p.Cys334Phe) c.986G>T (p.Cys329Phe) n.760G>T n.663G>T c.105G>T n.516G>T c.944G>T (p.Cys315Phe) | |
| 12 | g.102844400C= | CA2059448426 | PAH | c.1001G= (p.Cys334=) c.986G= (p.Cys329=) n.760G= n.663G= c.105G= n.516G= c.944G= (p.Cys315=) | |
| 12 | g.102844400C>G | CA229263 | PAH | c.1001G>C (p.Cys334Ser) c.986G>C (p.Cys329Ser) n.760G>C n.663G>C c.105G>C n.516G>C c.944G>C (p.Cys315Ser) | ClinVar dbSNP |
| 12 | g.102844400C>T | CA386493476 | PAH | c.1001G>A (p.Cys334Tyr) c.986G>A (p.Cys329Tyr) n.760G>A n.663G>A c.105G>A n.516G>A c.944G>A (p.Cys315Tyr) | |
| 12 | g.102844401A>C | CA386493477 | PAH | c.1000T>G (p.Cys334Gly) c.985T>G (p.Cys329Gly) n.759T>G n.662T>G c.104T>G n.515T>G c.943T>G (p.Cys315Gly) | |
| 12 | g.102844401A>G | CA386493478 | PAH | c.1000T>C (p.Cys334Arg) c.985T>C (p.Cys329Arg) n.759T>C n.662T>C c.104T>C n.515T>C c.943T>C (p.Cys315Arg) | |
| 12 | g.102844401A>T | CA386493479 | PAH | c.1000T>A (p.Cys334Ser) c.985T>A (p.Cys329Ser) n.759T>A n.662T>A c.104T>A n.515T>A c.943T>A (p.Cys315Ser) | |
| 12 | g.102844402G>A | CA6748770 | PAH | c.999C>T (p.Leu333=) c.984C>T (p.Leu328=) n.758C>T n.661C>T c.103C>T n.514C>T c.942C>T (p.Leu314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844402G>C | CA481375778 | PAH | c.999C>G (p.Leu333=) c.984C>G (p.Leu328=) n.758C>G n.661C>G c.103C>G n.514C>G c.942C>G (p.Leu314=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844402G= | CA2059448429 | PAH | c.999C= (p.Leu333=) c.984C= (p.Leu328=) n.758C= n.661C= c.103C= n.514C= c.942C= (p.Leu314=) | |
| 12 | g.102844402G>T | CA481375779 | PAH | c.999C>A (p.Leu333=) c.984C>A (p.Leu328=) n.758C>A n.661C>A c.103C>A n.514C>A c.942C>A (p.Leu314=) | |
| 12 | g.102844403A= | CA2059448434 | PAH | c.998T= (p.Leu333=) c.983T= (p.Leu328=) n.757T= n.660T= c.102T= n.513T= c.941T= (p.Leu314=) | |
| 12 | g.102844403A>C | CA386493480 | PAH | c.998T>G (p.Leu333Arg) c.983T>G (p.Leu328Arg) n.757T>G n.660T>G c.102T>G n.513T>G c.941T>G (p.Leu314Arg) | |
| 12 | g.102844403A>G | CA16020917 | PAH | c.998T>C (p.Leu333Pro) c.983T>C (p.Leu328Pro) n.757T>C n.660T>C c.102T>C n.513T>C c.941T>C (p.Leu314Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844403A>T | CA386493481 | PAH | c.998T>A (p.Leu333His) c.983T>A (p.Leu328His) n.757T>A n.660T>A c.102T>A n.513T>A c.941T>A (p.Leu314His) | |
| 12 | g.102844404G>A | CA114366 | PAH | c.997C>T (p.Leu333Phe) c.982C>T (p.Leu328Phe) n.756C>T n.659C>T c.101C>T n.512C>T c.940C>T (p.Leu314Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844404G>C | CA386493482 | PAH | c.997C>G (p.Leu333Val) c.982C>G (p.Leu328Val) n.756C>G n.659C>G c.101C>G n.512C>G c.940C>G (p.Leu314Val) | |
| 12 | g.102844404G= | CA2059448438 | PAH | c.997C= (p.Leu333=) c.982C= (p.Leu328=) n.756C= n.659C= c.101C= n.512C= c.940C= (p.Leu314=) | |
| 12 | g.102844404G>T | CA386493483 | PAH | c.997C>A (p.Leu333Ile) c.982C>A (p.Leu328Ile) n.756C>A n.659C>A c.101C>A n.512C>A c.940C>A (p.Leu314Ile) | |
| 12 | g.102844405C>A | CA481375782 | PAH | c.996G>T (p.Gly332=) c.981G>T (p.Gly327=) n.755G>T n.658G>T c.100G>T n.511G>T c.939G>T (p.Gly313=) | |
| 12 | g.102844405C>G | CA481375783 | PAH | c.996G>C (p.Gly332=) c.981G>C (p.Gly327=) n.755G>C n.658G>C c.100G>C n.511G>C c.939G>C (p.Gly313=) | |
| 12 | g.102844405C>T | CA481375780 | PAH | c.996G>A (p.Gly332=) c.981G>A (p.Gly327=) n.755G>A n.658G>A c.100G>A n.511G>A c.939G>A (p.Gly313=) | |
| 12 | g.102844406C>A | CA16020916 | PAH | c.995G>T (p.Gly332Val) c.980G>T (p.Gly327Val) n.754G>T n.657G>T c.99G>T n.510G>T c.938G>T (p.Gly313Val) | |
| 12 | g.102844406C= | CA2059448448 | PAH | c.995G= (p.Gly332=) c.980G= (p.Gly327=) n.754G= n.657G= c.99G= n.510G= c.938G= (p.Gly313=) | |
| 12 | g.102844406C>G | CA386493484 | PAH | c.995G>C (p.Gly332Ala) c.980G>C (p.Gly327Ala) n.754G>C n.657G>C c.99G>C n.510G>C c.938G>C (p.Gly313Ala) | |
| 12 | g.102844406C>T | CA229897 | PAH | c.995G>A (p.Gly332Glu) c.980G>A (p.Gly327Glu) n.754G>A n.657G>A c.99G>A n.510G>A c.938G>A (p.Gly313Glu) | ClinVar dbSNP |
| 12 | g.102844407C>A | CA386493485 | PAH | c.994G>T (p.Gly332Trp) c.979G>T (p.Gly327Trp) n.753G>T n.656G>T c.98G>T n.509G>T c.937G>T (p.Gly313Trp) | |
| 12 | g.102844407C= | CA2059448455 | PAH | c.994G= (p.Gly332=) c.979G= (p.Gly327=) n.753G= n.656G= c.98G= n.509G= c.937G= (p.Gly313=) | |
| 12 | g.102844407C>G | CA386493487 | PAH | c.994G>C (p.Gly332Arg) c.979G>C (p.Gly327Arg) n.753G>C n.656G>C c.98G>C n.509G>C c.937G>C (p.Gly313Arg) | |
| 12 | g.102844407C>T | CA386493486 | PAH | c.994G>A (p.Gly332Arg) c.979G>A (p.Gly327Arg) n.753G>A n.656G>A c.98G>A n.509G>A c.937G>A (p.Gly313Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |