OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102877459C= | CA2059462453 | PAH | c.441+3G= (n.441+3G=) c.426+3G= (n.426+3G=) n.537+3G= c.428G= n.530+3G= | |
| 12 | g.102877459C>G | CA229546 | PAH | c.441+3G>C (n.441+3G>C) c.426+3G>C (n.426+3G>C) n.537+3G>C c.428G>C n.530+3G>C | ClinVar dbSNP |
| 12 | g.102877459C>T | CA2575281443 | PAH | c.441+3G>A (n.441+3G>A) c.426+3G>A (n.426+3G>A) n.537+3G>A c.428G>A n.530+3G>A | |
| 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 | |
| 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= | |
| 12 | g.102877483C>G | CA481332675 | PAH | c.420G>C (p.Ala140=) c.405G>C (p.Ala135=) n.516G>C c.404G>C n.509G>C | gnomAD v4 |
| 12 | g.102877483C>T | CA6748958 | PAH | c.420G>A (p.Ala140=) c.405G>A (p.Ala135=) n.516G>A c.404G>A n.509G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877484G>A | CA6748960 | PAH | c.419C>T (p.Ala140Val) c.404C>T (p.Ala135Val) n.515C>T c.403C>T n.508C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877484G>C | CA242493246 | PAH | c.419C>G (p.Ala140Gly) c.404C>G (p.Ala135Gly) n.515C>G c.403C>G n.508C>G | dbSNP |
| 12 | g.102877484G= | CA2059462472 | PAH | c.419C= (p.Ala140=) c.404C= (p.Ala135=) n.515C= c.403C= n.508C= | |
| 12 | g.102877484G>T | CA6748959 | PAH | c.419C>A (p.Ala140Glu) c.404C>A (p.Ala135Glu) n.515C>A c.403C>A n.508C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877485C>A | CA386302129 | PAH | c.418G>T (p.Ala140Ser) c.403G>T (p.Ala135Ser) n.514G>T c.402G>T n.507G>T | |
| 12 | g.102877485C>G | CA386302131 | PAH | c.418G>C (p.Ala140Pro) c.403G>C (p.Ala135Pro) n.514G>C c.402G>C n.507G>C | |
| 12 | g.102877485C>T | CA386302133 | PAH | c.418G>A (p.Ala140Thr) c.403G>A (p.Ala135Thr) n.514G>A c.402G>A n.507G>A | |
| 12 | g.102877486T>A | CA481332677 | PAH | c.417A>T (p.Gly139=) c.402A>T (p.Gly134=) n.513A>T c.401A>T n.506A>T | |
| 12 | g.102877486T>C | CA481332678 | PAH | c.417A>G (p.Gly139=) c.402A>G (p.Gly134=) n.513A>G c.401A>G n.506A>G | |
| 12 | g.102877486T>G | CA481332679 | PAH | c.417A>C (p.Gly139=) c.402A>C (p.Gly134=) n.513A>C c.401A>C n.506A>C | COSMIC |
| 12 | g.102877487C>A | CA386302139 | PAH | c.416G>T (p.Gly139Val) c.401G>T (p.Gly134Val) n.512G>T c.400G>T n.505G>T | |
| 12 | g.102877487C= | CA2059462473 | PAH | c.416G= (p.Gly139=) c.401G= (p.Gly134=) n.512G= c.400G= n.505G= | |
| 12 | g.102877487C>G | CA386302136 | PAH | c.416G>C (p.Gly139Ala) c.401G>C (p.Gly134Ala) n.512G>C c.400G>C n.505G>C | |
| 12 | g.102877487C>T | CA6748961 | PAH | c.416G>A (p.Gly139Glu) c.401G>A (p.Gly134Glu) n.512G>A c.400G>A n.505G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102877488C>A | CA386302141 | PAH | c.415G>T (p.Gly139Ter) c.400G>T (p.Gly134Ter) n.511G>T c.399G>T n.504G>T | |
| 12 | g.102877488C= | CA2059462474 | PAH | c.415G= (p.Gly139=) c.400G= (p.Gly134=) n.511G= c.399G= n.504G= | |
| 12 | g.102877488C>G | CA386302143 | PAH | c.415G>C (p.Gly139Arg) c.400G>C (p.Gly134Arg) n.511G>C c.399G>C n.504G>C | dbSNP |
| 12 | g.102877488C>T | CA386302145 | PAH | c.415G>A (p.Gly139Arg) c.400G>A (p.Gly134Arg) n.511G>A c.399G>A n.504G>A | |
| 12 | g.102877489A= | CA2059462475 | PAH | c.414T= (p.Tyr138=) c.399T= (p.Tyr133=) n.510T= c.398T= n.503T= | |
| 12 | g.102877489A>C | CA386302147 | PAH | c.414T>G (p.Tyr138Ter) c.399T>G (p.Tyr133Ter) n.510T>G c.398T>G n.503T>G | |
| 12 | g.102877489A>G | CA481332680 | PAH | c.414T>C (p.Tyr138=) c.399T>C (p.Tyr133=) n.510T>C c.398T>C n.503T>C | ClinVar dbSNP |
| 12 | g.102877489A>T | CA386302149 | PAH | c.414T>A (p.Tyr138Ter) c.399T>A (p.Tyr133Ter) n.510T>A c.398T>A n.503T>A | |
| 12 | g.102877490T>A | CA386302153 | PAH | c.413A>T (p.Tyr138Phe) c.398A>T (p.Tyr133Phe) n.509A>T c.397A>T n.502A>T | |
| 12 | g.102877490T>C | CA386302152 | PAH | c.413A>G (p.Tyr138Cys) c.398A>G (p.Tyr133Cys) n.509A>G c.397A>G n.502A>G | dbSNP gnomAD v4 |
| 12 | g.102877490T>G | CA386302151 | PAH | c.413A>C (p.Tyr138Ser) c.398A>C (p.Tyr133Ser) n.509A>C c.397A>C n.502A>C | |
| 12 | g.102877490T= | CA2059462476 | PAH | c.413A= (p.Tyr138=) c.398A= (p.Tyr133=) n.509A= c.397A= n.502A= | |
| 12 | g.102877491A>C | CA386302154 | PAH | c.412T>G (p.Tyr138Asp) c.397T>G (p.Tyr133Asp) n.508T>G c.396T>G n.501T>G | |
| 12 | g.102877491A>G | CA386302155 | PAH | c.412T>C (p.Tyr138His) c.397T>C (p.Tyr133His) n.508T>C c.396T>C n.501T>C | |
| 12 | g.102877491A>T | CA386302156 | PAH | c.412T>A (p.Tyr138Asn) c.397T>A (p.Tyr133Asn) n.508T>A c.396T>A n.501T>A | |
| 12 | g.102877492G>A | CA229536 | PAH | c.411C>T (p.Ser137=) c.396C>T (p.Ser132=) n.507C>T c.395C>T n.500C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877492G>C | CA386302157 | PAH | c.411C>G (p.Ser137Arg) c.396C>G (p.Ser132Arg) n.507C>G c.395C>G n.500C>G | |
| 12 | g.102877492G= | CA2059462477 | PAH | c.411C= (p.Ser137=) c.396C= (p.Ser132=) n.507C= c.395C= n.500C= | |
| 12 | g.102877492G>T | CA386302158 | PAH | c.411C>A (p.Ser137Arg) c.396C>A (p.Ser132Arg) n.507C>A c.395C>A n.500C>A | |
| 12 | g.102877493C>A | CA386302161 | PAH | c.410G>T (p.Ser137Ile) c.395G>T (p.Ser132Ile) n.506G>T c.394G>T n.499G>T | |
| 12 | g.102877493C>G | CA386302159 | PAH | c.410G>C (p.Ser137Thr) c.395G>C (p.Ser132Thr) n.506G>C c.394G>C n.499G>C | |
| 12 | g.102877493C>T | CA386302160 | PAH | c.410G>A (p.Ser137Asn) c.395G>A (p.Ser132Asn) n.506G>A c.394G>A n.499G>A | |
| 12 | g.102877494T>A | CA386302162 | PAH | c.409A>T (p.Ser137Cys) c.394A>T (p.Ser132Cys) n.505A>T c.393A>T n.498A>T | |
| 12 | g.102877494T>C | CA386302163 | PAH | c.409A>G (p.Ser137Gly) c.394A>G (p.Ser132Gly) n.505A>G c.393A>G n.498A>G | |
| 12 | g.102877494T>G | CA386302164 | PAH | c.409A>C (p.Ser137Arg) c.394A>C (p.Ser132Arg) n.505A>C c.393A>C n.498A>C | |
| 12 | g.102877495G>A | CA481332681 | PAH | c.408C>T (p.Leu136=) c.393C>T (p.Leu131=) n.504C>T c.392C>T n.497C>T | |
| 12 | g.102877495G>C | CA481332682 | PAH | c.408C>G (p.Leu136=) c.393C>G (p.Leu131=) n.504C>G c.392C>G n.497C>G | |
| 12 | g.102877495G>T | CA481332683 | PAH | c.408C>A (p.Leu136=) c.393C>A (p.Leu131=) n.504C>A c.392C>A n.497C>A | COSMIC |
| 12 | g.102877496A= | CA2059462478 | PAH | c.407T= (p.Leu136=) c.392T= (p.Leu131=) n.503T= c.391T= n.496T= | |
| 12 | g.102877496A>C | CA386302165 | PAH | c.407T>G (p.Leu136Arg) c.392T>G (p.Leu131Arg) n.503T>G c.391T>G n.496T>G | dbSNP gnomAD v2 |
| 12 | g.102877496A>G | CA386302166 | PAH | c.407T>C (p.Leu136Pro) c.392T>C (p.Leu131Pro) n.503T>C c.391T>C n.496T>C | |
| 12 | g.102877496A>T | CA386302167 | PAH | c.407T>A (p.Leu136His) c.392T>A (p.Leu131His) n.503T>A c.391T>A n.496T>A | |
| 12 | g.102877497G>A | CA386302168 | PAH | c.406C>T (p.Leu136Phe) c.391C>T (p.Leu131Phe) n.502C>T c.390C>T n.495C>T | |
| 12 | g.102877497G>C | CA386302169 | PAH | c.406C>G (p.Leu136Val) c.391C>G (p.Leu131Val) n.502C>G c.390C>G n.495C>G | |
| 12 | g.102877497G>T | CA386302170 | PAH | c.406C>A (p.Leu136Ile) c.391C>A (p.Leu131Ile) n.502C>A c.390C>A n.495C>A | COSMIC |
| 12 | g.102877498A>C | CA386302171 | PAH | c.405T>G (p.Ile135Met) c.390T>G (p.Ile130Met) n.501T>G c.389T>G n.494T>G | |
| 12 | g.102877498A>G | CA481332684 | PAH | c.405T>C (p.Ile135=) c.390T>C (p.Ile130=) n.501T>C c.389T>C n.494T>C | |
| 12 | g.102877498A>T | CA481332685 | PAH | c.405T>A (p.Ile135=) c.390T>A (p.Ile130=) n.501T>A c.389T>A n.494T>A | |
| 12 | g.102877498_102877499insGCTGTTTACCAAGCACTTGACTTAAACCTCCATAGATGTACACAGGCAGAAACAATGATGATTTGC | CA2620507509 | PAH | c.404_405insGCAAATCATCATTGTTTCTGCCTGTGTACATCTATGGAGGTTTAAGTCAAGTGCTTGGTAAACAGC (p.Ile135MetfsTer21) c.389_390insGCAAATCATCATTGTTTCTGCCTGTGTACATCTATGGAGGTTTAAGTCAAGTGCTTGGTAAACAGC (p.Ile130MetfsTer21) n.500_501insGCAAATCATCATTGTTTCTGCCTGTGTACATCTATGGAGGTTTAAGTCAAGTGCTTGGTAAACAGC c.388_389insGCAAATCATCATTGTTTCTGCCTGTGTACATCTATGGAGGTTTAAGTCAAGTGCTTGGTAAACAGC n.493_494insGCAAATCATCATTGTTTCTGCCTGTGTACATCTATGGAGGTTTAAGTCAAGTGCTTGGTAAACAGC | gnomAD v4 |
| 12 | g.102877499A>C | CA386302172 | PAH | c.404T>G (p.Ile135Ser) c.389T>G (p.Ile130Ser) n.500T>G c.388T>G n.493T>G | |
| 12 | g.102877499A>G | CA386302173 | PAH | c.404T>C (p.Ile135Thr) c.389T>C (p.Ile130Thr) n.500T>C c.388T>C n.493T>C | |
| 12 | g.102877499A>T | CA386302174 | PAH | c.404T>A (p.Ile135Asn) c.389T>A (p.Ile130Asn) n.500T>A c.388T>A n.493T>A | |
| 12 | g.102877500T>A | CA386302175 | PAH | c.403A>T (p.Ile135Phe) c.388A>T (p.Ile130Phe) n.499A>T c.387A>T n.492A>T | |
| 12 | g.102877500T>C | CA386302177 | PAH | c.403A>G (p.Ile135Val) c.388A>G (p.Ile130Val) n.499A>G c.387A>G n.492A>G | |
| 12 | g.102877500T>G | CA386302176 | PAH | c.403A>C (p.Ile135Leu) c.388A>C (p.Ile130Leu) n.499A>C c.387A>C n.492A>C | |
| 12 | g.102877501C>A | CA386302178 | PAH | c.402G>T (p.Gln134His) c.387G>T (p.Gln129His) n.498G>T c.386G>T n.491G>T | |
| 12 | g.102877501C>G | CA386302179 | PAH | c.402G>C (p.Gln134His) c.387G>C (p.Gln129His) n.498G>C c.386G>C n.491G>C | |
| 12 | g.102877501C>T | CA481332686 | PAH | c.402G>A (p.Gln134=) c.387G>A (p.Gln129=) n.498G>A c.386G>A n.491G>A | |
| 12 | g.102877501_102877505delinsCTGAT | CA2059462479 | PAH | c.398_402delinsATCAG (p.Asn133=) c.383_387delinsATCAG (p.Asn128=) n.494_498delinsATCAG c.382_386delinsATCAG n.487_491delinsATCAG | |
| 12 | g.102877502T>A | CA386302180 | PAH | c.401A>T (p.Gln134Leu) c.386A>T (p.Gln129Leu) n.497A>T c.385A>T n.490A>T | |
| 12 | g.102877502T>C | CA386302181 | PAH | c.401A>G (p.Gln134Arg) c.386A>G (p.Gln129Arg) n.497A>G c.385A>G n.490A>G | |
| 12 | g.102877502T>G | CA386302182 | PAH | c.401A>C (p.Gln134Pro) c.386A>C (p.Gln129Pro) n.497A>C c.385A>C n.490A>C | |
| 12 | g.102877504_102877507del | CA229531 | PAH | c.398_401del (p.Asn133ArgfsTer?) c.383_386del (p.Asn128ArgfsTer?) n.494_497del c.382_385del n.487_490del | ClinVar dbSNP |
| 12 | g.102877503G>A | CA229534 | PAH | c.400C>T (p.Gln134Ter) c.385C>T (p.Gln129Ter) n.496C>T c.384C>T n.489C>T | ClinVar dbSNP |
| 12 | g.102877503G>C | CA386302183 | PAH | c.400C>G (p.Gln134Glu) c.385C>G (p.Gln129Glu) n.496C>G c.384C>G n.489C>G | COSMIC |
| 12 | g.102877503G= | CA2059462480 | PAH | c.400C= (p.Gln134=) c.385C= (p.Gln129=) n.496C= c.384C= n.489C= | |
| 12 | g.102877503G>T | CA386302184 | PAH | c.400C>A (p.Gln134Lys) c.385C>A (p.Gln129Lys) n.496C>A c.384C>A n.489C>A | |
| 12 | g.102877504A= | CA2059462481 | PAH | c.399T= (p.Asn133=) c.384T= (p.Asn128=) n.495T= c.383T= n.488T= | |
| 12 | g.102877504A>C | CA386302185 | PAH | c.399T>G (p.Asn133Lys) c.384T>G (p.Asn128Lys) n.495T>G c.383T>G n.488T>G | |
| 12 | g.102877504A>G | CA6748962 | PAH | c.399T>C (p.Asn133=) c.384T>C (p.Asn128=) n.495T>C c.383T>C n.488T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877504A>T | CA386302186 | PAH | c.399T>A (p.Asn133Lys) c.384T>A (p.Asn128Lys) n.495T>A c.383T>A n.488T>A | |
| 12 | g.102877505T>A | CA386302189 | PAH | c.398A>T (p.Asn133Ile) c.383A>T (p.Asn128Ile) n.494A>T c.382A>T n.487A>T | |
| 12 | g.102877505T>C | CA386302187 | PAH | c.398A>G (p.Asn133Ser) c.383A>G (p.Asn128Ser) n.494A>G c.382A>G n.487A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877505T>G | CA386302188 | PAH | c.398A>C (p.Asn133Thr) c.383A>C (p.Asn128Thr) n.494A>C c.382A>C n.487A>C | |
| 12 | g.102877505T= | CA2059462482 | PAH | c.398A= (p.Asn133=) c.383A= (p.Asn128=) n.494A= c.382A= n.487A= | |
| 12 | g.102877506T>A | CA386302190 | PAH | c.397A>T (p.Asn133Tyr) c.382A>T (p.Asn128Tyr) n.493A>T c.381A>T n.486A>T | |
| 12 | g.102877506T>C | CA386302191 | PAH | c.397A>G (p.Asn133Asp) c.382A>G (p.Asn128Asp) n.493A>G c.381A>G n.486A>G | |
| 12 | g.102877506T>G | CA386302192 | PAH | c.397A>C (p.Asn133His) c.382A>C (p.Asn128His) n.493A>C c.381A>C n.486A>C | dbSNP gnomAD v4 |
| 12 | g.102877506T= | CA2059462483 | PAH | c.397A= (p.Asn133=) c.382A= (p.Asn128=) n.493A= c.381A= n.486A= | |
| 12 | g.102877507G>A | CA481332689 | PAH | c.396C>T (p.Ala132=) c.381C>T (p.Ala127=) n.492C>T c.380C>T n.485C>T | |
| 12 | g.102877507G>C | CA481332688 | PAH | c.396C>G (p.Ala132=) c.381C>G (p.Ala127=) n.492C>G c.380C>G n.485C>G | |
| 12 | g.102877507G>T | CA481332687 | PAH | c.396C>A (p.Ala132=) c.381C>A (p.Ala127=) n.492C>A c.380C>A n.485C>A | COSMIC |
| 12 | g.102877508G>A | CA16020783 | PAH | c.395C>T (p.Ala132Val) c.380C>T (p.Ala127Val) n.491C>T c.379C>T n.484C>T | dbSNP gnomAD v4 |
| 12 | g.102877508G>C | CA242493261 | PAH | c.395C>G (p.Ala132Gly) c.380C>G (p.Ala127Gly) n.491C>G c.379C>G n.484C>G | dbSNP |
| 12 | g.102877508G= | CA2059462484 | PAH | c.395C= (p.Ala132=) c.380C= (p.Ala127=) n.491C= c.379C= n.484C= | |
| 12 | g.102877508G>T | CA386302193 | PAH | c.395C>A (p.Ala132Asp) c.380C>A (p.Ala127Asp) n.491C>A c.379C>A n.484C>A | |
| 12 | g.102877509C>A | CA386302194 | PAH | c.394G>T (p.Ala132Ser) c.379G>T (p.Ala127Ser) n.490G>T c.378G>T n.483G>T | |
| 12 | g.102877509C= | CA2059462485 | PAH | c.394G= (p.Ala132=) c.379G= (p.Ala127=) n.490G= c.378G= n.483G= | |
| 12 | g.102877509C>G | CA386302195 | PAH | c.394G>C (p.Ala132Pro) c.379G>C (p.Ala127Pro) n.490G>C c.378G>C n.483G>C | gnomAD v4 |
| 12 | g.102877509C>T | CA242493266 | PAH | c.394G>A (p.Ala132Thr) c.379G>A (p.Ala127Thr) n.490G>A c.378G>A n.483G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877510A>C | CA386302196 | PAH | c.393T>G (p.Phe131Leu) c.378T>G (p.Phe126Leu) n.489T>G c.377T>G n.482T>G | |
| 12 | g.102877510A>G | CA481332690 | PAH | c.393T>C (p.Phe131=) c.378T>C (p.Phe126=) n.489T>C c.377T>C n.482T>C | |
| 12 | g.102877510A>T | CA386302197 | PAH | c.393T>A (p.Phe131Leu) c.378T>A (p.Phe126Leu) n.489T>A c.377T>A n.482T>A | |
| 12 | g.102877511A= | CA2059462486 | PAH | c.392T= (p.Phe131=) c.377T= (p.Phe126=) n.488T= c.376T= n.481T= | |
| 12 | g.102877511A>C | CA386302200 | PAH | c.392T>G (p.Phe131Cys) c.377T>G (p.Phe126Cys) n.488T>G c.376T>G n.481T>G | |
| 12 | g.102877511A>G | CA386302199 | PAH | c.392T>C (p.Phe131Ser) c.377T>C (p.Phe126Ser) n.488T>C c.376T>C n.481T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877511A>T | CA386302198 | PAH | c.392T>A (p.Phe131Tyr) c.377T>A (p.Phe126Tyr) n.488T>A c.376T>A n.481T>A | |
| 12 | g.102877512A>C | CA386302201 | PAH | c.391T>G (p.Phe131Val) c.376T>G (p.Phe126Val) n.487T>G c.375T>G n.480T>G | |
| 12 | g.102877512A>G | CA386302203 | PAH | c.391T>C (p.Phe131Leu) c.376T>C (p.Phe126Leu) n.487T>C c.375T>C n.480T>C | |
| 12 | g.102877512A>T | CA386302202 | PAH | c.391T>A (p.Phe131Ile) c.376T>A (p.Phe126Ile) n.487T>A c.375T>A n.480T>A | |
| 12 | g.102877513T>A | CA386302204 | PAH | c.390A>T (p.Arg130Ser) c.375A>T (p.Arg125Ser) n.486A>T c.374A>T n.479A>T | |
| 12 | g.102877513T>C | CA481332691 | PAH | c.390A>G (p.Arg130=) c.375A>G (p.Arg125=) n.486A>G c.374A>G n.479A>G | |
| 12 | g.102877513T>G | CA386302205 | PAH | c.390A>C (p.Arg130Ser) c.375A>C (p.Arg125Ser) n.486A>C c.374A>C n.479A>C | |
| 12 | g.102877514C>A | CA386302206 | PAH | c.389G>T (p.Arg130Ile) c.374G>T (p.Arg125Ile) n.485G>T c.373G>T n.478G>T | |
| 12 | g.102877514C>G | CA386302207 | PAH | c.389G>C (p.Arg130Thr) c.374G>C (p.Arg125Thr) n.485G>C c.373G>C n.478G>C | |
| 12 | g.102877514C>T | CA386302208 | PAH | c.389G>A (p.Arg130Lys) c.374G>A (p.Arg125Lys) n.485G>A c.373G>A n.478G>A | gnomAD v4 COSMIC |
| 12 | g.102877515T>A | CA386302209 | PAH | c.388A>T (p.Arg130Ter) c.373A>T (p.Arg125Ter) n.484A>T c.372A>T n.477A>T | |
| 12 | g.102877515T>C | CA386302210 | PAH | c.388A>G (p.Arg130Gly) c.373A>G (p.Arg125Gly) n.484A>G c.372A>G n.477A>G | |
| 12 | g.102877515T>G | CA481332692 | PAH | c.388A>C (p.Arg130=) c.373A>C (p.Arg125=) n.484A>C c.372A>C n.477A>C | |
| 12 | g.102877516G>A | CA481332693 | PAH | c.387C>T (p.Asp129=) c.372C>T (p.Asp124=) n.483C>T c.371C>T n.476C>T | gnomAD v4 |
| 12 | g.102877516G>C | CA386302211 | PAH | c.387C>G (p.Asp129Glu) c.372C>G (p.Asp124Glu) n.483C>G c.371C>G n.476C>G | |
| 12 | g.102877516G>T | CA386302212 | PAH | c.387C>A (p.Asp129Glu) c.372C>A (p.Asp124Glu) n.483C>A c.371C>A n.476C>A | COSMIC |
| 12 | g.102877517T>A | CA229529 | PAH | c.386A>T (p.Asp129Val) c.371A>T (p.Asp124Val) n.482A>T c.370A>T n.475A>T | ClinVar dbSNP |
| 12 | g.102877517T>C | CA229527 | PAH | c.386A>G (p.Asp129Gly) c.371A>G (p.Asp124Gly) n.482A>G c.370A>G n.475A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877517T>G | CA386302213 | PAH | c.386A>C (p.Asp129Ala) c.371A>C (p.Asp124Ala) n.482A>C c.370A>C n.475A>C | |
| 12 | g.102877517T= | CA2059462487 | PAH | c.386A= (p.Asp129=) c.371A= (p.Asp124=) n.482A= c.370A= n.475A= | |
| 12 | g.102877518C>A | CA286503 | PAH | c.385G>T (p.Asp129Tyr) c.370G>T (p.Asp124Tyr) n.481G>T c.369G>T n.474G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877518C= | CA2059462488 | PAH | c.385G= (p.Asp129=) c.370G= (p.Asp124=) n.481G= c.369G= n.474G= | |
| 12 | g.102877518C>G | CA386302215 | PAH | c.385G>C (p.Asp129His) c.370G>C (p.Asp124His) n.481G>C c.369G>C n.474G>C | ClinVar |
| 12 | g.102877518C>T | CA386302214 | PAH | c.385G>A (p.Asp129Asn) c.370G>A (p.Asp124Asn) n.481G>A c.369G>A n.474G>A | |
| 12 | g.102877519C>A | CA242493277 | PAH | c.384G>T (p.Leu128=) c.369G>T (p.Leu123=) n.480G>T c.368G>T n.473G>T | dbSNP gnomAD v4 |
| 12 | g.102877519C= | CA2059462489 | PAH | c.384G= (p.Leu128=) c.369G= (p.Leu123=) n.480G= c.368G= n.473G= | |
| 12 | g.102877519C>G | CA481332694 | PAH | c.384G>C (p.Leu128=) c.369G>C (p.Leu123=) n.480G>C c.368G>C n.473G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102877519C>T | CA481332695 | PAH | c.384G>A (p.Leu128=) c.369G>A (p.Leu123=) n.480G>A c.368G>A n.473G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877520A>C | CA386302216 | PAH | c.383T>G (p.Leu128Arg) c.368T>G (p.Leu123Arg) n.479T>G c.367T>G n.472T>G | |
| 12 | g.102877520A>G | CA386302217 | PAH | c.383T>C (p.Leu128Pro) c.368T>C (p.Leu123Pro) n.479T>C c.367T>C n.472T>C | |
| 12 | g.102877520A>T | CA386302218 | PAH | c.383T>A (p.Leu128Gln) c.368T>A (p.Leu123Gln) n.479T>A c.367T>A n.472T>A | |
| 12 | g.102877521G>A | CA481332696 | PAH | c.382C>T (p.Leu128=) c.367C>T (p.Leu123=) n.478C>T c.366C>T n.471C>T | dbSNP |
| 12 | g.102877521G>C | CA386302219 | PAH | c.382C>G (p.Leu128Val) c.367C>G (p.Leu123Val) n.478C>G c.366C>G n.471C>G | |
| 12 | g.102877521G= | CA2059462490 | PAH | c.382C= (p.Leu128=) c.367C= (p.Leu123=) n.478C= c.366C= n.471C= | |
| 12 | g.102877521G>T | CA386302220 | PAH | c.382C>A (p.Leu128Met) c.367C>A (p.Leu123Met) n.478C>A c.366C>A n.471C>A | |
| 12 | g.102877522C>A | CA386302221 | PAH | c.381G>T (p.Glu127Asp) c.366G>T (p.Glu122Asp) n.477G>T c.365G>T n.470G>T | dbSNP |
| 12 | g.102877522C= | CA2059462491 | PAH | c.381G= (p.Glu127=) c.366G= (p.Glu122=) n.477G= c.365G= n.470G= | |
| 12 | g.102877522C>G | CA6748963 | PAH | c.381G>C (p.Glu127Asp) c.366G>C (p.Glu122Asp) n.477G>C c.365G>C n.470G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102877522C>T | CA481332697 | PAH | c.381G>A (p.Glu127=) c.366G>A (p.Glu122=) n.477G>A c.365G>A n.470G>A | ClinVar dbSNP |
| 12 | g.102877523T>A | CA386302222 | PAH | c.380A>T (p.Glu127Val) c.365A>T (p.Glu122Val) n.476A>T c.364A>T n.469A>T | |
| 12 | g.102877523T>C | CA16020782 | PAH | c.380A>G (p.Glu127Gly) c.365A>G (p.Glu122Gly) n.476A>G c.364A>G n.469A>G | ClinVar dbSNP |
| 12 | g.102877523T>G | CA386302223 | PAH | c.380A>C (p.Glu127Ala) c.365A>C (p.Glu122Ala) n.476A>C c.364A>C n.469A>C | |
| 12 | g.102877523T= | CA2059462492 | PAH | c.380A= (p.Glu127=) c.365A= (p.Glu122=) n.476A= c.364A= n.469A= | |
| 12 | g.102877524C>A | CA386302224 | PAH | c.379G>T (p.Glu127Ter) c.364G>T (p.Glu122Ter) n.475G>T c.363G>T n.468G>T | |
| 12 | g.102877524C= | CA2059462493 | PAH | c.379G= (p.Glu127=) c.364G= (p.Glu122=) n.475G= c.363G= n.468G= | |
| 12 | g.102877524C>G | CA386302225 | PAH | c.379G>C (p.Glu127Gln) c.364G>C (p.Glu122Gln) n.475G>C c.363G>C n.468G>C | |
| 12 | g.102877524C>T | CA16020781 | PAH | c.379G>A (p.Glu127Lys) c.364G>A (p.Glu122Lys) n.475G>A c.363G>A n.468G>A | ClinVar dbSNP |
| 12 | g.102877525T>A | CA386302226 | PAH | c.378A>T (p.Gln126His) c.363A>T (p.Gln121His) n.474A>T c.362A>T n.467A>T | |
| 12 | g.102877525T>C | CA481332698 | PAH | c.378A>G (p.Gln126=) c.363A>G (p.Gln121=) n.474A>G c.362A>G n.467A>G | gnomAD v4 |
| 12 | g.102877525T>G | CA386302227 | PAH | c.378A>C (p.Gln126His) c.363A>C (p.Gln121His) n.474A>C c.362A>C n.467A>C | gnomAD v4 |
| 12 | g.102877526T>A | CA386302228 | PAH | c.377A>T (p.Gln126Leu) c.362A>T (p.Gln121Leu) n.473A>T c.361A>T n.466A>T | |
| 12 | g.102877526T>C | CA386302229 | PAH | c.377A>G (p.Gln126Arg) c.362A>G (p.Gln121Arg) n.473A>G c.361A>G n.466A>G | |
| 12 | g.102877526T>G | CA386302230 | PAH | c.377A>C (p.Gln126Pro) c.362A>C (p.Gln121Pro) n.473A>C c.361A>C n.466A>C | |
| 12 | g.102877527G>A | CA386302231 | PAH | c.376C>T (p.Gln126Ter) c.361C>T (p.Gln121Ter) n.472C>T c.360C>T n.465C>T | |
| 12 | g.102877527G>C | CA386302232 | PAH | c.376C>G (p.Gln126Glu) c.361C>G (p.Gln121Glu) n.472C>G c.360C>G n.465C>G | |
| 12 | g.102877527G>T | CA386302233 | PAH | c.376C>A (p.Gln126Lys) c.361C>A (p.Gln121Lys) n.472C>A c.360C>A n.465C>A | |
| 12 | g.102877528A= | CA2059462494 | PAH | c.375T= (p.Ile125=) c.360T= (p.Ile120=) n.471T= c.359T= n.464T= | |
| 12 | g.102877528A>C | CA386302234 | PAH | c.375T>G (p.Ile125Met) c.360T>G (p.Ile120Met) n.471T>G c.359T>G n.464T>G | |
| 12 | g.102877528A>G | CA242493294 | PAH | c.375T>C (p.Ile125=) c.360T>C (p.Ile120=) n.471T>C c.359T>C n.464T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877528A>T | CA481332699 | PAH | c.375T>A (p.Ile125=) c.360T>A (p.Ile120=) n.471T>A c.359T>A n.464T>A | |
| 12 | g.102877529A>C | CA386302235 | PAH | c.374T>G (p.Ile125Ser) c.359T>G (p.Ile120Ser) n.470T>G c.358T>G n.463T>G | |
| 12 | g.102877529A>G | CA386302236 | PAH | c.374T>C (p.Ile125Thr) c.359T>C (p.Ile120Thr) n.470T>C c.358T>C n.463T>C | ClinVar |
| 12 | g.102877529A>T | CA386302237 | PAH | c.374T>A (p.Ile125Asn) c.359T>A (p.Ile120Asn) n.470T>A c.358T>A n.463T>A | |
| 12 | g.102877530T>A | CA386302240 | PAH | c.373A>T (p.Ile125Phe) c.358A>T (p.Ile120Phe) n.469A>T c.357A>T n.462A>T | COSMIC |
| 12 | g.102877530T>C | CA386302238 | PAH | c.373A>G (p.Ile125Val) c.358A>G (p.Ile120Val) n.469A>G c.357A>G n.462A>G | |
| 12 | g.102877530T>G | CA386302239 | PAH | c.373A>C (p.Ile125Leu) c.358A>C (p.Ile120Leu) n.469A>C c.357A>C n.462A>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877530T= | CA2059462495 | PAH | c.373A= (p.Ile125=) c.358A= (p.Ile120=) n.469A= c.357A= n.462A= | |
| 12 | g.102877531G>A | CA481332700 | PAH | c.372C>T (p.Thr124=) c.357C>T (p.Thr119=) n.468C>T c.356C>T n.461C>T | gnomAD v4 |
| 12 | g.102877531G>C | CA481332701 | PAH | c.372C>G (p.Thr124=) c.357C>G (p.Thr119=) n.468C>G c.356C>G n.461C>G | |
| 12 | g.102877531G>T | CA481332702 | PAH | c.372C>A (p.Thr124=) c.357C>A (p.Thr119=) n.468C>A c.356C>A n.461C>A | |
| 12 | g.102877532G>A | CA229526 | PAH | c.371C>T (p.Thr124Ile) c.356C>T (p.Thr119Ile) n.467C>T c.355C>T n.460C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877532G>C | CA386302241 | PAH | c.371C>G (p.Thr124Ser) c.356C>G (p.Thr119Ser) n.467C>G c.355C>G n.460C>G | |
| 12 | g.102877532G= | CA2059462496 | PAH | c.371C= (p.Thr124=) c.356C= (p.Thr119=) n.467C= c.355C= n.460C= | |
| 12 | g.102877532G>T | CA242493312 | PAH | c.371C>A (p.Thr124Asn) c.356C>A (p.Thr119Asn) n.467C>A c.355C>A n.460C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877533T>A | CA386302242 | PAH | c.370A>T (p.Thr124Ser) c.355A>T (p.Thr119Ser) n.466A>T c.354A>T n.459A>T | |
| 12 | g.102877533T>C | CA386302243 | PAH | c.370A>G (p.Thr124Ala) c.355A>G (p.Thr119Ala) n.466A>G c.354A>G n.459A>G | |
| 12 | g.102877533T>G | CA386302244 | PAH | c.370A>C (p.Thr124Pro) c.355A>C (p.Thr119Pro) n.466A>C c.354A>C n.459A>C | |
| 12 | g.102877534T>A | CA386302245 | PAH | c.369A>T (p.Arg123Ser) c.354A>T (p.Arg118Ser) n.465A>T c.353A>T n.458A>T | |
| 12 | g.102877534T>C | CA481332703 | PAH | c.369A>G (p.Arg123=) c.354A>G (p.Arg118=) n.465A>G c.353A>G n.458A>G | |
| 12 | g.102877534T>G | CA386302246 | PAH | c.369A>C (p.Arg123Ser) c.354A>C (p.Arg118Ser) n.465A>C c.353A>C n.458A>C | |
| 12 | g.102877535C>A | CA286501 | PAH | c.368G>T (p.Arg123Ile) c.353G>T (p.Arg118Ile) n.464G>T c.352G>T n.457G>T | ClinVar dbSNP |
| 12 | g.102877535C= | CA2059462497 | PAH | c.368G= (p.Arg123=) c.353G= (p.Arg118=) n.464G= c.352G= n.457G= | |
| 12 | g.102877535C>G | CA386302247 | PAH | c.368G>C (p.Arg123Thr) c.353G>C (p.Arg118Thr) n.464G>C c.352G>C n.457G>C | |
| 12 | g.102877535C>T | CA386302248 | PAH | c.368G>A (p.Arg123Lys) c.353G>A (p.Arg118Lys) n.464G>A c.352G>A n.457G>A | COSMIC |
| 12 | g.102877536T>A | CA386302249 | PAH | c.367A>T (p.Arg123Ter) c.352A>T (p.Arg118Ter) n.463A>T c.351A>T n.456A>T | |
| 12 | g.102877536T>C | CA386302250 | PAH | c.367A>G (p.Arg123Gly) c.352A>G (p.Arg118Gly) n.463A>G c.351A>G n.456A>G | gnomAD v4 |
| 12 | g.102877536T>G | CA481332704 | PAH | c.367A>C (p.Arg123=) c.352A>C (p.Arg118=) n.463A>C c.351A>C n.456A>C | |
| 12 | g.102877537del | CA2620507586 | PAH | c.367del (p.Arg123GlufsTer?) c.352del (p.Arg118GlufsTer?) n.463del c.351del n.456del | gnomAD v4 |
| 12 | g.102877536_102877539del | CA2620507620 | PAH | c.364_367del (p.Pro122GlufsTer?) c.349_352del (p.Pro117GlufsTer?) n.460_463del c.348_351del n.453_456del | gnomAD v4 |
| 12 | g.102877537T>A | CA481332705 | PAH | c.366A>T (p.Pro122=) c.351A>T (p.Pro117=) n.462A>T c.350A>T n.455A>T | |
| 12 | g.102877537T>C | CA481332706 | PAH | c.366A>G (p.Pro122=) c.351A>G (p.Pro117=) n.462A>G c.350A>G n.455A>G | ClinVar |
| 12 | g.102877537T>G | CA481332707 | PAH | c.366A>C (p.Pro122=) c.351A>C (p.Pro117=) n.462A>C c.350A>C n.455A>C | |
| 12 | g.102877537_102877538delinsA | CA2580085684 | PAH | c.365_366delinsT (p.Pro122LeufsTer?) c.350_351delinsT (p.Pro117LeufsTer?) n.461_462delinsT c.349_350delinsT n.454_455delinsT | ClinVar |
| 12 | g.102877537_102877538delinsTG | CA2059462498 | PAH | c.365_366delinsCA (p.Pro122=) c.350_351delinsCA (p.Pro117=) n.461_462delinsCA c.349_350delinsCA n.454_455delinsCA | |
| 12 | g.102877538G>A | CA386302251 | PAH | c.365C>T (p.Pro122Leu) c.350C>T (p.Pro117Leu) n.461C>T c.349C>T n.454C>T | |
| 12 | g.102877538G>C | CA386302252 | PAH | c.365C>G (p.Pro122Arg) c.350C>G (p.Pro117Arg) n.461C>G c.349C>G n.454C>G | |
| 12 | g.102877538G= | CA2059462499 | PAH | c.365C= (p.Pro122=) c.350C= (p.Pro117=) n.461C= c.349C= n.454C= | |
| 12 | g.102877538G>T | CA229524 | PAH | c.365C>A (p.Pro122Gln) c.350C>A (p.Pro117Gln) n.461C>A c.349C>A n.454C>A | ClinVar dbSNP |
| 12 | g.102877540del | CA1139660759 | PAH | c.365del (p.Pro122GlnfsTer?) c.350del (p.Pro117GlnfsTer?) n.461del c.349del n.454del | ClinVar dbSNP |
| 12 | g.102877539G>A | CA16020780 | PAH | c.364C>T (p.Pro122Ser) c.349C>T (p.Pro117Ser) n.460C>T c.348C>T n.453C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877539G>C | CA386302253 | PAH | c.364C>G (p.Pro122Ala) c.349C>G (p.Pro117Ala) n.460C>G c.348C>G n.453C>G | dbSNP |
| 12 | g.102877539G= | CA2059462500 | PAH | c.364C= (p.Pro122=) c.349C= (p.Pro117=) n.460C= c.348C= n.453C= | |
| 12 | g.102877539G>T | CA386302254 | PAH | c.364C>A (p.Pro122Thr) c.349C>A (p.Pro117Thr) n.460C>A c.348C>A n.453C>A | |
| 12 | g.102877540G>A | CA481332708 | PAH | c.363C>T (p.Phe121=) c.348C>T (p.Phe116=) n.459C>T c.347C>T n.452C>T | |
| 12 | g.102877540G>C | CA386302255 | PAH | c.363C>G (p.Phe121Leu) c.348C>G (p.Phe116Leu) n.459C>G c.347C>G n.452C>G | gnomAD v4 |
| 12 | g.102877540G>T | CA386302256 | PAH | c.363C>A (p.Phe121Leu) c.348C>A (p.Phe116Leu) n.459C>A c.347C>A n.452C>A | |
| 12 | g.102877541A= | CA2059462501 | PAH | c.362T= (p.Phe121=) c.347T= (p.Phe116=) n.458T= c.346T= n.451T= | |
| 12 | g.102877541A>C | CA386302258 | PAH | c.362T>G (p.Phe121Cys) c.347T>G (p.Phe116Cys) n.458T>G c.346T>G n.451T>G | |
| 12 | g.102877541A>G | CA16020779 | PAH | c.362T>C (p.Phe121Ser) c.347T>C (p.Phe116Ser) n.458T>C c.346T>C n.451T>C | ClinVar dbSNP |
| 12 | g.102877541A>T | CA386302257 | PAH | c.362T>A (p.Phe121Tyr) c.347T>A (p.Phe116Tyr) n.458T>A c.346T>A n.451T>A | |
| 12 | g.102877542A= | CA2059462502 | PAH | c.361T= (p.Phe121=) c.346T= (p.Phe116=) n.457T= c.345T= n.450T= | |
| 12 | g.102877542A>C | CA16020778 | PAH | c.361T>G (p.Phe121Val) c.346T>G (p.Phe116Val) n.457T>G c.345T>G n.450T>G | ClinVar dbSNP |
| 12 | g.102877542A>G | CA16020777 | PAH | c.361T>C (p.Phe121Leu) c.346T>C (p.Phe116Leu) n.457T>C c.345T>C n.450T>C | ClinVar |
| 12 | g.102877542A>T | CA386302259 | PAH | c.361T>A (p.Phe121Ile) c.346T>A (p.Phe116Ile) n.457T>A c.345T>A n.450T>A | |
| 12 | g.102877543C>A | CA386302260 | PAH | c.360G>T (p.Trp120Cys) c.345G>T (p.Trp115Cys) n.456G>T c.344G>T n.449G>T | |
| 12 | g.102877543C>G | CA386302261 | PAH | c.360G>C (p.Trp120Cys) c.345G>C (p.Trp115Cys) n.456G>C c.344G>C n.449G>C | |
| 12 | g.102877543C>T | CA386302262 | PAH | c.360G>A (p.Trp120Ter) c.345G>A (p.Trp115Ter) n.456G>A c.344G>A n.449G>A | |
| 12 | g.102877544C>A | CA386302264 | PAH | c.359G>T (p.Trp120Leu) c.344G>T (p.Trp115Leu) n.455G>T c.343G>T n.448G>T | |
| 12 | g.102877544C= | CA2059462503 | PAH | c.359G= (p.Trp120=) c.344G= (p.Trp115=) n.455G= c.343G= n.448G= | |
| 12 | g.102877544C>G | CA386302263 | PAH | c.359G>C (p.Trp120Ser) c.344G>C (p.Trp115Ser) n.455G>C c.343G>C n.448G>C | |
| 12 | g.102877544C>T | CA229522 | PAH | c.359G>A (p.Trp120Ter) c.344G>A (p.Trp115Ter) n.455G>A c.343G>A n.448G>A | ClinVar dbSNP |
| 12 | g.102877545_102877546insTTCA | CA2620507640 | PAH | c.359_360insAATG (p.Trp120Ter) c.344_345insAATG (p.Trp115Ter) n.455_456insAATG c.343_344insAATG n.448_449insAATG | gnomAD v4 |
| 12 | g.102877545del | CA16020776 | PAH | c.358del (p.Trp120GlyfsTer?) c.343del (p.Trp115GlyfsTer?) n.454del c.342del n.447del | gnomAD v4 |
| 12 | g.102877545A= | CA2059462504 | PAH | c.358T= (p.Trp120=) c.343T= (p.Trp115=) n.454T= c.342T= n.447T= | |
| 12 | g.102877545A>C | CA386302265 | PAH | c.358T>G (p.Trp120Gly) c.343T>G (p.Trp115Gly) n.454T>G c.342T>G n.447T>G | |
| 12 | g.102877545A>G | CA6748964 | PAH | c.358T>C (p.Trp120Arg) c.343T>C (p.Trp115Arg) n.454T>C c.342T>C n.447T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102877545A>T | CA386302266 | PAH | c.358T>A (p.Trp120Arg) c.343T>A (p.Trp115Arg) n.454T>A c.342T>A n.447T>A | |
| 12 | g.102877545_102877546insTTCAA | CA2620507642 | PAH | c.358_359insTGAAT (p.Trp120LeufsTer?) c.343_344insTGAAT (p.Trp115LeufsTer?) n.454_455insTGAAT c.342_343insTGAAT n.447_448insTGAAT | gnomAD v4 |
| 12 | g.102877545_102877546delinsAG | CA2059462505 | PAH | c.357_358delinsCT (p.Pro119=) c.342_343delinsCT (p.Pro114=) n.453_454delinsCT c.341_342delinsCT n.446_447delinsCT | |
| 12 | g.102877546G>A | CA481332709 | PAH | c.357C>T (p.Pro119=) c.342C>T (p.Pro114=) n.453C>T c.341C>T n.446C>T | ClinVar dbSNP |
| 12 | g.102877546G>C | CA481332710 | PAH | c.357C>G (p.Pro119=) c.342C>G (p.Pro114=) n.453C>G c.341C>G n.446C>G | |
| 12 | g.102877546G>T | CA481332711 | PAH | c.357C>A (p.Pro119=) c.342C>A (p.Pro114=) n.453C>A c.341C>A n.446C>A | |
| 12 | g.102877548del | CA275242 | PAH | c.357del (p.Trp120GlyfsTer?) c.342del (p.Trp115GlyfsTer?) n.453del c.341del n.446del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877547G>A | CA6748965 | PAH | c.356C>T (p.Pro119Leu) c.341C>T (p.Pro114Leu) n.452C>T c.340C>T n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877547G>C | CA6748966 | PAH | c.356C>G (p.Pro119Arg) c.341C>G (p.Pro114Arg) n.452C>G c.340C>G n.445C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102877547G= | CA2059462506 | PAH | c.356C= (p.Pro119=) c.341C= (p.Pro114=) n.452C= c.340C= n.445C= | |
| 12 | g.102877547G>T | CA386302267 | PAH | c.356C>A (p.Pro119His) c.341C>A (p.Pro114His) n.452C>A c.340C>A n.445C>A | |
| 12 | g.102877548G>A | CA220582 | PAH | c.355C>T (p.Pro119Ser) c.340C>T (p.Pro114Ser) n.451C>T c.339C>T n.444C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102877548G>C | CA386302268 | PAH | c.355C>G (p.Pro119Ala) c.340C>G (p.Pro114Ala) n.451C>G c.339C>G n.444C>G | |
| 12 | g.102877548G= | CA2059462507 | PAH | c.355C= (p.Pro119=) c.340C= (p.Pro114=) n.451C= c.339C= n.444C= | |
| 12 | g.102877548G>T | CA386302269 | PAH | c.355C>A (p.Pro119Thr) c.340C>A (p.Pro114Thr) n.451C>A c.339C>A n.444C>A | |
| 12 | g.102877549C>A | CA481332714 | PAH | c.354G>T (p.Val118=) c.339G>T (p.Val113=) n.450G>T c.338G>T n.443G>T | |
| 12 | g.102877549C>G | CA481332712 | PAH | c.354G>C (p.Val118=) c.339G>C (p.Val113=) n.450G>C c.338G>C n.443G>C | |
| 12 | g.102877549C>T | CA481332713 | PAH | c.354G>A (p.Val118=) c.339G>A (p.Val113=) n.450G>A c.338G>A n.443G>A | |
| 12 | g.102877550A>C | CA386302270 | PAH | c.353T>G (p.Val118Gly) c.338T>G (p.Val113Gly) n.449T>G c.337T>G n.442T>G | |
| 12 | g.102877550A>G | CA386302271 | PAH | c.353T>C (p.Val118Ala) c.338T>C (p.Val113Ala) n.449T>C c.337T>C n.442T>C | |
| 12 | g.102877550A>T | CA386302272 | PAH | c.353T>A (p.Val118Glu) c.338T>A (p.Val113Glu) n.449T>A c.337T>A n.442T>A | |
| 12 | g.102877551C>A | CA16020775 | PAH | c.353-1G>T (n.353-1G>T) c.338-1G>T (n.338-1G>T) n.449-1G>T c.337-1G>T n.442-1G>T | |
| 12 | g.102877551C= | CA2059462508 | PAH | c.353-1G= (n.353-1G=) c.338-1G= (n.338-1G=) n.449-1G= c.337-1G= n.442-1G= | |
| 12 | g.102877551C>G | CA16020774 | PAH | c.353-1G>C (n.353-1G>C) c.338-1G>C (n.338-1G>C) n.449-1G>C c.337-1G>C n.442-1G>C | |
| 12 | g.102877551C>T | CA16020773 | PAH | c.353-1G>A (n.353-1G>A) c.338-1G>A (n.338-1G>A) n.449-1G>A c.337-1G>A n.442-1G>A | ClinVar dbSNP |
| 12 | g.102877552T>A | CA16020772 | PAH | c.353-2A>T (n.353-2A>T) c.338-2A>T (n.338-2A>T) n.449-2A>T c.337-2A>T n.442-2A>T | ClinVar |
| 12 | g.102877552T>C | CA16020771 | PAH | c.353-2A>G (n.353-2A>G) c.338-2A>G (n.338-2A>G) n.449-2A>G c.337-2A>G n.442-2A>G | ClinVar dbSNP |
| 12 | g.102877552T>G | CA386302273 | PAH | c.353-2A>C (n.353-2A>C) c.338-2A>C (n.338-2A>C) n.449-2A>C c.337-2A>C n.442-2A>C | |
| 12 | g.102877552T= | CA2059462509 | PAH | c.353-2A= (n.353-2A=) c.338-2A= (n.338-2A=) n.449-2A= c.337-2A= n.442-2A= | |
| 12 | g.102877554A= | CA2059462510 | PAH | c.353-4T= (n.353-4T=) c.338-4T= (n.338-4T=) n.449-4T= c.337-4T= n.442-4T= | |
| 12 | g.102877554A>C | CA2499221404 | PAH | c.353-4T>G (n.353-4T>G) c.338-4T>G (n.338-4T>G) n.449-4T>G c.337-4T>G n.442-4T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877554_102877556del | CA2797244385 | PAH | c.353-6_353-4del (n.353-6_353-4del) c.338-6_338-4del (n.338-6_338-4del) n.449-6_449-4del c.337-6_337-4del n.442-6_442-4del | |
| 12 | g.102877556dup | CA912973339 | PAH | c.353-4dup (n.353-4dup) c.338-4dup (n.338-4dup) n.449-4dup c.337-4dup n.442-4dup | |
| 12 | g.102877556_102877558dup | CA607158216 | PAH | c.353-7_353-5dup (n.353-7_353-5dup) c.338-7_338-5dup (n.338-7_338-5dup) n.449-7_449-5dup c.337-7_337-5dup n.442-7_442-5dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877556A= | CA2059462511 | PAH | c.353-6T= (n.353-6T=) c.338-6T= (n.338-6T=) n.449-6T= c.337-6T= n.442-6T= | |
| 12 | g.102877556A>G | CA2620507678 | PAH | c.353-6T>C (n.353-6T>C) c.338-6T>C (n.338-6T>C) n.449-6T>C c.337-6T>C n.442-6T>C | gnomAD v4 |
| 12 | g.102877556A>T | CA229521 | PAH | c.353-6T>A (n.353-6T>A) c.338-6T>A (n.338-6T>A) n.449-6T>A c.337-6T>A n.442-6T>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877559_102877560del | CA2575281444 | PAH | c.353-7_353-6del (n.353-7_353-6del) c.338-7_338-6del (n.338-7_338-6del) n.449-7_449-6del c.337-7_337-6del n.442-7_442-6del | gnomAD v4 |
| 12 | g.102877557C>A | CA2499221405 | PAH | c.353-7G>T (n.353-7G>T) c.338-7G>T (n.338-7G>T) n.449-7G>T c.337-7G>T n.442-7G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877557C>T | CA2573147901 | PAH | c.353-7G>A (n.353-7G>A) c.338-7G>A (n.338-7G>A) n.449-7G>A c.337-7G>A n.442-7G>A | ClinVar dbSNP |
| 12 | g.102877558A= | CA2059462512 | PAH | c.353-8T= (n.353-8T=) c.338-8T= (n.338-8T=) n.449-8T= c.337-8T= n.442-8T= | |
| 12 | g.102877558A>G | CA607158217 | PAH | c.353-8T>C (n.353-8T>C) c.338-8T>C (n.338-8T>C) n.449-8T>C c.337-8T>C n.442-8T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877559C>A | CA6748967 | PAH | c.353-9G>T (n.353-9G>T) c.338-9G>T (n.338-9G>T) n.449-9G>T c.337-9G>T n.442-9G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877559C= | CA2059462513 | PAH | c.353-9G= (n.353-9G=) c.338-9G= (n.338-9G=) n.449-9G= c.337-9G= n.442-9G= |