Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.102877477del | CA2571020594 | PAH | c.427del (p.Asp143MetfsTer?) c.412del (p.Asp138MetfsTer?) n.523del c.411del n.516del | |
12 | g.102877477C>A | CA481332671 | PAH | c.426G>T (p.Leu142=) c.411G>T (p.Leu137=) n.522G>T c.410G>T n.515G>T | |
12 | g.102877477C>G | CA481332672 | PAH | c.426G>C (p.Leu142=) c.411G>C (p.Leu137=) n.522G>C c.410G>C n.515G>C | |
12 | g.102877477C>T | CA481332673 | PAH | c.426G>A (p.Leu142=) c.411G>A (p.Leu137=) n.522G>A c.410G>A n.515G>A | COSMIC |
12 | g.102877478A= | CA2059462468 | PAH | c.425T= (p.Leu142=) c.410T= (p.Leu137=) n.521T= c.409T= n.514T= | |
12 | g.102877478A>C | CA386302098 | PAH | c.425T>G (p.Leu142Arg) c.410T>G (p.Leu137Arg) n.521T>G c.409T>G n.514T>G | |
12 | g.102877478A>G | CA386302094 | PAH | c.425T>C (p.Leu142Pro) c.410T>C (p.Leu137Pro) n.521T>C c.409T>C n.514T>C | |
12 | g.102877478A>T | CA386302096 | PAH | c.425T>A (p.Leu142Gln) c.410T>A (p.Leu137Gln) n.521T>A c.409T>A n.514T>A | |
12 | g.102877478_102877479insCTTATTGT | CA2059462469 | PAH | c.424_425insACAATAAG (p.Leu142HisfsTer?) c.409_410insACAATAAG (p.Leu137HisfsTer?) n.520_521insACAATAAG c.408_409insACAATAAG n.513_514insACAATAAG | dbSNP |
12 | g.102877479G>A | CA6748957 | PAH | c.424C>T (p.Leu142=) c.409C>T (p.Leu137=) n.520C>T c.408C>T n.513C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102877479G>C | CA386302100 | PAH | c.424C>G (p.Leu142Val) c.409C>G (p.Leu137Val) n.520C>G c.408C>G n.513C>G | |
12 | g.102877479G= | CA2059462470 | PAH | c.424C= (p.Leu142=) c.409C= (p.Leu137=) n.520C= c.408C= n.513C= | |
12 | g.102877479G>T | CA386302102 | PAH | c.424C>A (p.Leu142Met) c.409C>A (p.Leu137Met) n.520C>A c.408C>A n.513C>A | |
12 | g.102877480T>A | CA386302104 | PAH | c.423A>T (p.Glu141Asp) c.408A>T (p.Glu136Asp) n.519A>T c.407A>T n.512A>T | COSMIC |
12 | g.102877480T>C | CA481332674 | PAH | c.423A>G (p.Glu141=) c.408A>G (p.Glu136=) n.519A>G c.407A>G n.512A>G | |
12 | g.102877480T>G | CA386302106 | PAH | c.423A>C (p.Glu141Asp) c.408A>C (p.Glu136Asp) n.519A>C c.407A>C n.512A>C | |
12 | g.102877481T>A | CA386302109 | PAH | c.422A>T (p.Glu141Val) c.407A>T (p.Glu136Val) n.518A>T c.406A>T n.511A>T | |
12 | g.102877481T>C | CA386302114 | PAH | c.422A>G (p.Glu141Gly) c.407A>G (p.Glu136Gly) n.518A>G c.406A>G n.511A>G | |
12 | g.102877481T>G | CA386302112 | PAH | c.422A>C (p.Glu141Ala) c.407A>C (p.Glu136Ala) n.518A>C c.406A>C n.511A>C | |
12 | g.102877482C>A | CA386302117 | PAH | c.421G>T (p.Glu141Ter) c.406G>T (p.Glu136Ter) n.517G>T c.405G>T n.510G>T | gnomAD v4 |
12 | g.102877482C>G | CA386302119 | PAH | c.421G>C (p.Glu141Gln) c.406G>C (p.Glu136Gln) n.517G>C c.405G>C n.510G>C | |
12 | g.102877482C>T | CA386302121 | PAH | c.421G>A (p.Glu141Lys) c.406G>A (p.Glu136Lys) n.517G>A c.405G>A n.510G>A | gnomAD v4 |
12 | g.102877483C>A | CA481332676 | PAH | c.420G>T (p.Ala140=) c.405G>T (p.Ala135=) n.516G>T c.404G>T n.509G>T | ClinVar dbSNP gnomAD v4 |
12 | g.102877483C= | CA2059462471 | PAH | c.420G= (p.Ala140=) c.405G= (p.Ala135=) n.516G= c.404G= n.509G= |