| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102877465del | CA2580085690 | PAH | c.440del (p.Pro147LeufsTer?) c.425del (p.Pro142LeufsTer?) n.536del c.424del n.529del | ClinVar |
| 12 | g.102877464G>A | CA229541 | PAH | c.439C>T (p.Pro147Ser) c.424C>T (p.Pro142Ser) n.535C>T c.423C>T n.528C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877464G>C | CA386302034 | PAH | c.439C>G (p.Pro147Ala) c.424C>G (p.Pro142Ala) n.535C>G c.423C>G n.528C>G | |
| 12 | g.102877464G= | CA2059462458 | PAH | c.439C= (p.Pro147=) c.424C= (p.Pro142=) n.535C= c.423C= n.528C= | |
| 12 | g.102877464G>T | CA386302036 | PAH | c.439C>A (p.Pro147Thr) c.424C>A (p.Pro142Thr) n.535C>A c.423C>A n.528C>A | gnomAD v4 |
| 12 | g.102877465G>A | CA6748956 | PAH | c.438C>T (p.His146=) c.423C>T (p.His141=) n.534C>T c.422C>T n.527C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877465G>C | CA386302039 | PAH | c.438C>G (p.His146Gln) c.423C>G (p.His141Gln) n.534C>G c.422C>G n.527C>G | |
| 12 | g.102877465G= | CA2059462459 | PAH | c.438C= (p.His146=) c.423C= (p.His141=) n.534C= c.422C= n.527C= | |
| 12 | g.102877465G>T | CA386302041 | PAH | c.438C>A (p.His146Gln) c.423C>A (p.His141Gln) n.534C>A c.422C>A n.527C>A | |
| 12 | g.102877466T>A | CA386302043 | PAH | c.437A>T (p.His146Leu) c.422A>T (p.His141Leu) n.533A>T c.421A>T n.526A>T | |
| 12 | g.102877466T>C | CA386302046 | PAH | c.437A>G (p.His146Arg) c.422A>G (p.His141Arg) n.533A>G c.421A>G n.526A>G | |
| 12 | g.102877466T>G | CA386302048 | PAH | c.437A>C (p.His146Pro) c.422A>C (p.His141Pro) n.533A>C c.421A>C n.526A>C | |
| 12 | g.102877467G>A | CA229540 | PAH | c.436C>T (p.His146Tyr) c.421C>T (p.His141Tyr) n.532C>T c.420C>T n.525C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877467G>C | CA386302051 | PAH | c.436C>G (p.His146Asp) c.421C>G (p.His141Asp) n.532C>G c.420C>G n.525C>G | |
| 12 | g.102877467G= | CA2059462460 | PAH | c.436C= (p.His146=) c.421C= (p.His141=) n.532C= c.420C= n.525C= | |
| 12 | g.102877467G>T | CA386302052 | PAH | c.436C>A (p.His146Asn) c.421C>A (p.His141Asn) n.532C>A c.420C>A n.525C>A | |
| 12 | g.102877468G>A | CA481332666 | PAH | c.435C>T (p.Asp145=) c.420C>T (p.Asp140=) n.531C>T c.419C>T n.524C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877468G>C | CA386302057 | PAH | c.435C>G (p.Asp145Glu) c.420C>G (p.Asp140Glu) n.531C>G c.419C>G n.524C>G | |
| 12 | g.102877468G= | CA2059462461 | PAH | c.435C= (p.Asp145=) c.420C= (p.Asp140=) n.531C= c.419C= n.524C= | |
| 12 | g.102877468G>T | CA386302054 | PAH | c.435C>A (p.Asp145Glu) c.420C>A (p.Asp140Glu) n.531C>A c.419C>A n.524C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877469T>A | CA229539 | PAH | c.434A>T (p.Asp145Val) c.419A>T (p.Asp140Val) n.530A>T c.418A>T n.523A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877469T>C | CA386302060 | PAH | c.434A>G (p.Asp145Gly) c.419A>G (p.Asp140Gly) n.530A>G c.418A>G n.523A>G | |
| 12 | g.102877469T>G | CA386302062 | PAH | c.434A>C (p.Asp145Ala) c.419A>C (p.Asp140Ala) n.530A>C c.418A>C n.523A>C | |
| 12 | g.102877469T= | CA2059462462 | PAH | c.434A= (p.Asp145=) c.419A= (p.Asp140=) n.530A= c.418A= n.523A= | |
| 12 | g.102877470C>A | CA386302065 | PAH | c.433G>T (p.Asp145Tyr) c.418G>T (p.Asp140Tyr) n.529G>T c.417G>T n.522G>T | |
| 12 | g.102877470C>G | CA386302067 | PAH | c.433G>C (p.Asp145His) c.418G>C (p.Asp140His) n.529G>C c.417G>C n.522G>C | gnomAD v4 |
| 12 | g.102877470C>T | CA16020784 | PAH | c.433G>A (p.Asp145Asn) c.418G>A (p.Asp140Asn) n.529G>A c.417G>A n.522G>A | |
| 12 | g.102877471A= | CA2059462463 | PAH | c.432T= (p.Ala144=) c.417T= (p.Ala139=) n.528T= c.416T= n.521T= | |
| 12 | g.102877471A>C | CA481332667 | PAH | c.432T>G (p.Ala144=) c.417T>G (p.Ala139=) n.528T>G c.416T>G n.521T>G | dbSNP |
| 12 | g.102877471A>G | CA481332668 | PAH | c.432T>C (p.Ala144=) c.417T>C (p.Ala139=) n.528T>C c.416T>C n.521T>C | ClinVar |
| 12 | g.102877471A>T | CA481332669 | PAH | c.432T>A (p.Ala144=) c.417T>A (p.Ala139=) n.528T>A c.416T>A n.521T>A | dbSNP |
| 12 | g.102877472G>A | CA386302070 | PAH | c.431C>T (p.Ala144Val) c.416C>T (p.Ala139Val) n.527C>T c.415C>T n.520C>T | |
| 12 | g.102877472G>C | CA386302072 | PAH | c.431C>G (p.Ala144Gly) c.416C>G (p.Ala139Gly) n.527C>G c.415C>G n.520C>G | |
| 12 | g.102877472G>T | CA386302073 | PAH | c.431C>A (p.Ala144Asp) c.416C>A (p.Ala139Asp) n.527C>A c.415C>A n.520C>A | COSMIC |
| 12 | g.102877473C>A | CA386302074 | PAH | c.430G>T (p.Ala144Ser) c.415G>T (p.Ala139Ser) n.526G>T c.414G>T n.519G>T | |
| 12 | g.102877473C= | CA2059462464 | PAH | c.430G= (p.Ala144=) c.415G= (p.Ala139=) n.526G= c.414G= n.519G= | |
| 12 | g.102877473C>G | CA386302076 | PAH | c.430G>C (p.Ala144Pro) c.415G>C (p.Ala139Pro) n.526G>C c.414G>C n.519G>C | |
| 12 | g.102877473C>T | CA386302079 | PAH | c.430G>A (p.Ala144Thr) c.415G>A (p.Ala139Thr) n.526G>A c.414G>A n.519G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102877474A= | CA2059462465 | PAH | c.429T= (p.Asp143=) c.414T= (p.Asp138=) n.525T= c.413T= n.518T= | |
| 12 | g.102877474A>C | CA386302080 | PAH | c.429T>G (p.Asp143Glu) c.414T>G (p.Asp138Glu) n.525T>G c.413T>G n.518T>G | |
| 12 | g.102877474A>G | CA481332670 | PAH | c.429T>C (p.Asp143=) c.414T>C (p.Asp138=) n.525T>C c.413T>C n.518T>C | dbSNP gnomAD v4 |
| 12 | g.102877474A>T | CA386302083 | PAH | c.429T>A (p.Asp143Glu) c.414T>A (p.Asp138Glu) n.525T>A c.413T>A n.518T>A | |
| 12 | g.102877475T>A | CA386302085 | PAH | c.428A>T (p.Asp143Val) c.413A>T (p.Asp138Val) n.524A>T c.412A>T n.517A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877475T>C | CA229538 | PAH | c.428A>G (p.Asp143Gly) c.413A>G (p.Asp138Gly) n.524A>G c.412A>G n.517A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877475T>G | CA386302088 | PAH | c.428A>C (p.Asp143Ala) c.413A>C (p.Asp138Ala) n.524A>C c.412A>C n.517A>C | |
| 12 | g.102877475T= | CA2059462466 | PAH | c.428A= (p.Asp143=) c.413A= (p.Asp138=) n.524A= c.412A= n.517A= | |
| 12 | g.102877476C>A | CA386302090 | PAH | c.427G>T (p.Asp143Tyr) c.412G>T (p.Asp138Tyr) n.523G>T c.411G>T n.516G>T | dbSNP |
| 12 | g.102877476C= | CA2059462467 | PAH | c.427G= (p.Asp143=) c.412G= (p.Asp138=) n.523G= c.411G= n.516G= | |
| 12 | g.102877476C>G | CA386302092 | PAH | c.427G>C (p.Asp143His) c.412G>C (p.Asp138His) n.523G>C c.411G>C n.516G>C | |
| 12 | g.102877476C>T | CA242493222 | PAH | c.427G>A (p.Asp143Asn) c.412G>A (p.Asp138Asn) n.523G>A c.411G>A n.516G>A | dbSNP gnomAD v3 gnomAD v4 |