Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102877461_102877462del | CA16020785 | PAH | c.441+2_441+3del c.426+2_426+3del n.537+2_537+3del c.427_428del n.530+2_530+3del | |
12 | g.102877460A= | CA2059462454 | PAH | c.441+2T= (n.441+2T=) c.426+2T= (n.426+2T=) n.537+2T= c.427T= n.530+2T= | |
12 | g.102877460A>C | CA16020787 | PAH | c.441+2T>G (n.441+2T>G) c.426+2T>G (n.426+2T>G) n.537+2T>G c.427T>G n.530+2T>G | ClinVar dbSNP |
12 | g.102877460A>G | CA386302014 | PAH | c.441+2T>C (n.441+2T>C) c.426+2T>C (n.426+2T>C) n.537+2T>C c.427T>C n.530+2T>C | gnomAD v4 |
12 | g.102877460A>T | CA16020786 | PAH | c.441+2T>A (n.441+2T>A) c.426+2T>A (n.426+2T>A) n.537+2T>A c.427T>A n.530+2T>A | ClinVar dbSNP |
12 | g.102877461C>A | CA386302022 | PAH | c.441+1G>T (n.441+1G>T) c.426+1G>T (n.426+1G>T) n.537+1G>T c.426G>T n.530+1G>T | |
12 | g.102877461C= | CA2059462455 | PAH | c.441+1G= (n.441+1G=) c.426+1G= (n.426+1G=) n.537+1G= c.426G= n.530+1G= | |
12 | g.102877461C>G | CA6748955 | PAH | c.441+1G>C (n.441+1G>C) c.426+1G>C (n.426+1G>C) n.537+1G>C c.426G>C n.530+1G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102877461C>T | CA229545 | PAH | c.441+1G>A (n.441+1G>A) c.426+1G>A (n.426+1G>A) n.537+1G>A c.426G>A n.530+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102877462A= | CA2059462456 | PAH | c.441T= (p.Pro147=) c.426T= (p.Pro142=) n.537T= c.425T= n.530T= | |
12 | g.102877462A>C | CA481332663 | PAH | c.441T>G (p.Pro147=) c.426T>G (p.Pro142=) n.537T>G c.425T>G n.530T>G | |
12 | g.102877462A>G | CA481332664 | PAH | c.441T>C (p.Pro147=) c.426T>C (p.Pro142=) n.537T>C c.425T>C n.530T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102877462A>T | CA481332662 | PAH | c.441T>A (p.Pro147=) c.426T>A (p.Pro142=) n.537T>A c.425T>A n.530T>A | |
12 | g.102877463G>A | CA229543 | PAH | c.440C>T (p.Pro147Leu) c.425C>T (p.Pro142Leu) n.536C>T c.424C>T n.529C>T | ClinVar dbSNP |
12 | g.102877463G>C | CA386302030 | PAH | c.440C>G (p.Pro147Arg) c.425C>G (p.Pro142Arg) n.536C>G c.424C>G n.529C>G | |
12 | g.102877463G= | CA2059462457 | PAH | c.440C= (p.Pro147=) c.425C= (p.Pro142=) n.536C= c.424C= n.529C= | |
12 | g.102877463G>T | CA386302028 | PAH | c.440C>A (p.Pro147His) c.425C>A (p.Pro142His) n.536C>A c.424C>A n.529C>A | |
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 |