CleftGeneDB-Search

Gene: PAH

Basic information

Tag	Content
Uniprot ID	P00439; Q16717; Q8TC14;
Entrez ID	5053
Genbank protein ID	AAD13926.1; AAC51772.1; AAH26251.1; AAA60082.1;
Genbank nucleotide ID	NM_000277.1
Ensembl protein ID	ENSP00000448059
Ensembl nucleotide ID	ENSG00000171759
Gene name	Phenylalanine-4-hydroxylase
Gene symbol	PAH
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	24606907
Functional description	Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Sequence	MSTAVLENPG LGRKLSDFGQ ETSYIEDNCN QNGAISLIFS LKEEVGALAK VLRLFEENDV 60 NLTHIESRPS RLKKDEYEFF THLDKRSLPA LTNIIKILRH DIGATVHELS RDKKKDTVPW 120 FPRTIQELDR FANQILSYGA ELDADHPGFK DPVYRARRKQ FADIAYNYRH GQPIPRVEYM 180 EEEKKTWGTV FKTLKSLYKT HACYEYNHIF PLLEKYCGFH EDNIPQLEDV SQFLQTCTGF 240 RLRPVAGLLS SRDFLGGLAF RVFHCTQYIR HGSKPMYTPE PDICHELLGH VPLFSDRSFA 300 QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKQGDSI KAYGAGLLSS FGELQYCLSE 360 KPKLLPLELE KTAIQNYTVT EFQPLYYVAE SFNDAKEKVR NFAATIPRPF SVRYDPYTQR 420 IEVLDNTQQL KILADSINSE IGILCSALQK IK 452

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1DMW
1J8T
1J8U
1KW0
1LRM
1MMK
1MMT
1PAH
1TDW
1TG2
2PAH
3PAH
4ANP
4PAH
5FII
5PAH
6HPO
6HYC
6N1K
6PAH
1J8U
1MMT
1PAH
5FII
6HYC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PAH	510583	Q2KIH7		Bos taurus	Prediction	More>>
1:1 ortholog	PAH		F6XY00		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PAH		A0A452F3X2		Capra hircus	Prediction	More>>
1:1 ortholog	PAH	5053	P00439	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Pah	18478	P16331		Mus musculus	Prediction	More>>
1:1 ortholog	PAH		A0A2I3SWI0		Pan troglodytes	Prediction	More>>
1:1 ortholog	PAH		F1SRJ8		Sus scrofa	Prediction	More>>
1:1 ortholog	PAH	100354678	G1T8B6		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Pah	24616	Q6AYW2		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pah		Q7SYH6		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PAH	rs7485331C>A	Genotyping	24606907
PAH	rs12425434T>C	Genotyping	24606907

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000088869	p.Met1Leu	missense variant	-	NC_000012.12:g.102917130T>A	ClinVar
RCV000186076	p.Met1Thr	missense variant	-	NC_000012.12:g.102917129A>G	ClinVar
RCV000088893	p.Met1Arg	missense variant	-	NC_000012.12:g.102917129A>C	ClinVar
RCV000000616	p.Met1Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102917130T>C	ClinVar
RCV000088868	p.Met1Val	missense variant	-	NC_000012.12:g.102917130T>C	ClinVar
RCV000088911	p.Met1Ile	missense variant	-	NC_000012.12:g.102917128C>T	ClinVar
RCV000000617	p.Met1Val	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102917130T>C	ClinVar
RCV000000653	p.Met1Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102917128C>T	ClinVar
rs1451895979	p.Thr3Ile	missense variant	-	NC_000012.12:g.102917123G>A	TOPMed
rs765022724	p.Ala4Val	missense variant	-	NC_000012.12:g.102917120G>A	ExAC,TOPMed,gnomAD
rs1223872589	p.Ala4Thr	missense variant	-	NC_000012.12:g.102917121C>T	gnomAD
rs753312947	p.Glu7Gln	missense variant	-	NC_000012.12:g.102917112C>G	ExAC
rs763623193	p.Asn8Asp	missense variant	-	NC_000012.12:g.102917109T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro9Gln	missense variant	-	NC_000012.12:g.102917105G>T	NCI-TCGA
COSM1358239	p.Gly10Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102917103C>T	NCI-TCGA Cosmic
COSM6135540	p.Gly10Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102917103C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly10Val	missense variant	-	NC_000012.12:g.102917102C>A	NCI-TCGA
rs1346707834	p.Leu11Ser	missense variant	-	NC_000012.12:g.102917099A>G	gnomAD
rs1433712720	p.Gly12Ser	missense variant	-	NC_000012.12:g.102917097C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys14Arg	missense variant	-	NC_000012.12:g.102917090T>C	NCI-TCGA
RCV000088944	p.Leu15Ter	nonsense	-	NC_000012.12:g.102917083_102917084AG[2]	ClinVar
RCV000153638	p.Leu15Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102917083_102917084AG[2]	ClinVar
rs1319374413	p.Leu15Pro	missense variant	-	NC_000012.12:g.102917087A>G	TOPMed
RCV000088937	p.Ser16Pro	missense variant	-	NC_000012.12:g.102917085A>G	ClinVar
rs62642946	p.Ser16Pro	missense variant	-	NC_000012.12:g.102917085A>G	-
NCI-TCGA novel	p.Ser16Phe	missense variant	-	NC_000012.12:g.102917084G>A	NCI-TCGA
rs150366430	p.Asp17Glu	missense variant	-	NC_000012.12:g.102917080G>C	ESP,ExAC,gnomAD
rs771104344	p.Gly19Arg	missense variant	-	NC_000012.12:g.102917076C>G	ExAC,TOPMed,gnomAD
RCV000169450	p.Gln20Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102917073G>A	ClinVar
RCV000089006	p.Gln20His	missense variant	-	NC_000012.12:g.102917071C>G	ClinVar
RCV000088998	p.Gln20Leu	missense variant	-	NC_000012.12:g.102917072T>A	ClinVar
rs199475662	p.Gln20Leu	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102917072T>A	UniProt,dbSNP
VAR_009239	p.Gln20Leu	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102917072T>A	UniProt
rs199475662	p.Gln20Leu	missense variant	-	NC_000012.12:g.102917072T>A	-
rs199475688	p.Gln20His	missense variant	-	NC_000012.12:g.102917071C>G	-
rs753466976	p.Glu21Asp	missense variant	-	NC_000012.12:g.102912896T>G	ExAC,TOPMed,gnomAD
RCV000664768	p.Thr22Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912894G>T	ClinVar
rs199565868	p.Thr22Lys	missense variant	-	NC_000012.12:g.102912894G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr22Ala	missense variant	-	NC_000012.12:g.102912895T>C	NCI-TCGA
COSM4038092	p.Ser23Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102912891C>A	NCI-TCGA Cosmic
RCV000529284	p.Tyr24Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912888T>C	ClinVar
rs539994406	p.Tyr24Cys	missense variant	-	NC_000012.12:g.102912888T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs539994406	p.Tyr24Phe	missense variant	-	NC_000012.12:g.102912888T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1355039694	p.Ile25Thr	missense variant	-	NC_000012.12:g.102912885A>G	TOPMed,gnomAD
rs936213897	p.Asn30His	missense variant	-	NC_000012.12:g.102912871T>G	TOPMed
NCI-TCGA novel	p.Asn30Thr	missense variant	-	NC_000012.12:g.102912870T>G	NCI-TCGA
NCI-TCGA novel	p.Ile35Met	missense variant	-	NC_000012.12:g.102912854T>C	NCI-TCGA
rs760011862	p.Ser36Leu	missense variant	-	NC_000012.12:g.102912852G>A	ExAC,gnomAD
RCV000210792	p.Leu37Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912849A>G	ClinVar
rs869312996	p.Leu37Pro	missense variant	-	NC_000012.12:g.102912849A>G	-
RCV000088764	p.Ile38Ter	frameshift	-	NC_000012.12:g.102912848dup	ClinVar
RCV000078504	p.Phe39Leu	missense variant	-	NC_000012.12:g.102912842G>C	ClinVar
RCV000000636	p.Phe39Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912842G>C	ClinVar
rs62642926	p.Phe39Leu	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102912842G>C	ESP,ExAC,TOPMed,gnomAD
rs62642926	p.Phe39Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912842G>C	UniProt,dbSNP
VAR_000870	p.Phe39Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912842G>C	UniProt
VAR_000871	p.Phe39del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000088797	p.Ser40Leu	missense variant	-	NC_000012.12:g.102912840G>A	ClinVar
rs62642938	p.Ser40Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912840G>A	UniProt,dbSNP
VAR_000872	p.Ser40Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912840G>A	UniProt
rs62642938	p.Ser40Leu	missense variant	-	NC_000012.12:g.102912840G>A	-
rs62642916	p.Leu41Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912837A>G	UniProt,dbSNP
VAR_009240	p.Leu41Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912837A>G	UniProt
rs62642916	p.Leu41Pro	missense variant	-	NC_000012.12:g.102912837A>G	-
RCV000088809	p.Leu41Pro	missense variant	-	NC_000012.12:g.102912837A>G	ClinVar
RCV000697659	p.Leu41Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912838G>A	ClinVar
rs62642928	p.Leu41Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912838G>A	UniProt,dbSNP
VAR_000873	p.Leu41Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912838G>A	UniProt
rs62635346	p.Lys42Arg	missense variant	-	NC_000012.12:g.102912834T>C	ExAC,TOPMed,gnomAD
rs62635346	p.Lys42Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912834T>A	UniProt,dbSNP
VAR_000874	p.Lys42Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912834T>A	UniProt
rs62635346	p.Lys42Ile	missense variant	-	NC_000012.12:g.102912834T>A	ExAC,TOPMed,gnomAD
RCV000088819	p.Lys42Ile	missense variant	-	NC_000012.12:g.102912834T>A	ClinVar
NCI-TCGA novel	p.Lys42Glu	missense variant	-	NC_000012.12:g.102912835T>C	NCI-TCGA
rs1555209575	p.Glu43Ter	stop gained	-	NC_000012.12:g.102912832C>A	-
RCV000673220	p.Glu43Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102912832C>A	ClinVar
NCI-TCGA novel	p.Glu44Lys	missense variant	-	NC_000012.12:g.102912829C>T	NCI-TCGA
COSM467671	p.Val45Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102912825A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val45Ala	missense variant	-	NC_000012.12:g.102912825A>G	NCI-TCGA
VAR_067994	p.Val45Ala	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000088837	p.Gly46Ter	frameshift	-	NC_000012.12:g.102912823del	ClinVar
RCV000000661	p.Gly46Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>T	ClinVar
rs74603784	p.Gly46Ser	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102912823C>T	ExAC,TOPMed,gnomAD
rs74603784	p.Gly46Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>T	UniProt,dbSNP
VAR_000875	p.Gly46Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>T	UniProt
RCV000758110	p.Gly46Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>G	ClinVar
RCV000088838	p.Ala47Glu	missense variant	-	NC_000012.12:g.102912819G>T	ClinVar
rs118203925	p.Ala47Val	missense variant	-	NC_000012.12:g.102912819G>A	TOPMed,gnomAD
RCV000088839	p.Ala47Val	missense variant	-	NC_000012.12:g.102912819G>A	ClinVar
rs118203925	p.Ala47Glu	missense variant	-	NC_000012.12:g.102912819G>T	TOPMed,gnomAD
rs1206656229	p.Ala47Ser	missense variant	-	NC_000012.12:g.102912820C>A	TOPMed,gnomAD
RCV000078511	p.Leu48Ser	missense variant	-	NC_000012.12:g.102912816A>G	ClinVar
rs5030841	p.Leu48Ser	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102912816A>G	ESP,ExAC,TOPMed,gnomAD
RCV000000639	p.Leu48Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912816A>G	ClinVar
rs776829633	p.Lys50Glu	missense variant	-	NC_000012.12:g.102912811T>C	ExAC,gnomAD
rs772159852	p.Val51Ile	missense variant	-	NC_000012.12:g.102912808C>T	ExAC,gnomAD
RCV000106392	p.Leu52Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102912805del	ClinVar
RCV000088840	p.Leu52Ser	missense variant	-	NC_000012.12:g.102912804A>G	ClinVar
rs199475630	p.Leu52Ser	missense variant	-	NC_000012.12:g.102912804A>G	-
RCV000664566	p.Arg53Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912802G>A	ClinVar
RCV000088842	p.Arg53His	missense variant	-	NC_000012.12:g.102912801C>T	ClinVar
rs199475619	p.Arg53Cys	missense variant	-	NC_000012.12:g.102912802G>A	ExAC,TOPMed,gnomAD
rs199475619	p.Arg53Ser	missense variant	-	NC_000012.12:g.102912802G>T	ExAC,TOPMed,gnomAD
rs118092776	p.Arg53His	missense variant	-	NC_000012.12:g.102912801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000490373	p.Arg53His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912801C>T	ClinVar
RCV000669099	p.Leu54Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912798A>G	ClinVar
rs199475677	p.Leu54Ser	missense variant	-	NC_000012.12:g.102912798A>G	TOPMed,gnomAD
rs143358918	p.Leu54Phe	missense variant	-	NC_000012.12:g.102912797T>G	ESP,ExAC,TOPMed,gnomAD
RCV000000642	p.Phe55Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102912796del	ClinVar
RCV000078513	p.Phe55Ter	frameshift	-	NC_000012.12:g.102912796del	ClinVar
RCV000150092	p.Phe55Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912794A>C	ClinVar
RCV000106347	p.Phe55Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912795A>G	ClinVar
rs199475598	p.Phe55Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912794A>C	UniProt,dbSNP
VAR_000879	p.Phe55Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912794A>C	UniProt
rs199475598	p.Phe55Leu	missense variant	-	NC_000012.12:g.102912794A>C	ExAC,TOPMed,gnomAD
rs281865438	p.Phe55Ser	missense variant	-	NC_000012.12:g.102912795A>G	-
RCV000088852	p.Glu56Asp	missense variant	-	NC_000012.12:g.102912791C>A	ClinVar
rs199475567	p.Glu56Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912791C>A	UniProt,dbSNP
VAR_000880	p.Glu56Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912791C>A	UniProt
RCV000721179	p.Glu57Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894918C>T	ClinVar
RCV000106349	p.Glu57Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894918C>A	ClinVar
rs140945592	p.Glu57Ter	stop gained	-	NC_000012.12:g.102894918C>A	ESP,ExAC,TOPMed,gnomAD
rs140945592	p.Glu57Lys	missense variant	-	NC_000012.12:g.102894918C>T	ESP,ExAC,TOPMed,gnomAD
RCV000758107	p.Asp59Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894911T>A	ClinVar
RCV000088857	p.Asp59Tyr	missense variant	-	NC_000012.12:g.102894912C>A	ClinVar
RCV000088858	p.Asp59Gly	missense variant	-	NC_000012.12:g.102894911T>C	ClinVar
rs199475672	p.Asp59Gly	missense variant	-	NC_000012.12:g.102894911T>C	-
rs199475635	p.Asp59Tyr	missense variant	-	NC_000012.12:g.102894912C>A	-
rs1398246301	p.Val60Ala	missense variant	-	NC_000012.12:g.102894908A>G	gnomAD
RCV000106350	p.Asn61Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894904G>T	ClinVar
RCV000088859	p.Asn61Asp	missense variant	-	NC_000012.12:g.102894906T>C	ClinVar
RCV000088860	p.Asn61Lys	missense variant	-	NC_000012.12:g.102894904G>C	ClinVar
rs199475651	p.Asn61Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894906T>C	UniProt,dbSNP
VAR_067995	p.Asn61Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894906T>C	UniProt
rs199475651	p.Asn61Asp	missense variant	-	NC_000012.12:g.102894906T>C	-
rs199475634	p.Asn61Lys	missense variant	-	NC_000012.12:g.102894904G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn61Ile	missense variant	-	NC_000012.12:g.102894905T>A	NCI-TCGA
rs199475634	p.Asn61Lys	missense variant	-	NC_000012.12:g.102894904G>C	ExAC,gnomAD
RCV000758095	p.Leu62Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894903G>C	ClinVar
VAR_067996	p.Leu62Pro	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000758120	p.Thr63Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894900T>G	ClinVar
VAR_000881	p.Thr63_His64delinsProAsn	deletion_insertion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000088862	p.His64Asn	missense variant	-	NC_000012.12:g.102894897G>T	ClinVar
rs199475569	p.His64Asn	missense variant	-	NC_000012.12:g.102894897G>T	-
RCV000088863	p.His64Ter	frameshift	-	NC_000012.12:g.102894899del	ClinVar
RCV000803656	p.Ile65Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894894T>C	ClinVar
rs199475643	p.Ile65Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894894T>C	UniProt,dbSNP
VAR_067998	p.Ile65Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894894T>C	UniProt
rs199475643	p.Ile65Val	missense variant	-	NC_000012.12:g.102894894T>C	ExAC,gnomAD
RCV000758100	p.Ile65Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894893A>T	ClinVar
rs75193786	p.Ile65Thr	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102894893A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs75193786	p.Ile65Ser	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102894893A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000088866	p.Ile65Ser	missense variant	-	NC_000012.12:g.102894893A>C	ClinVar
RCV000078516	p.Ile65Thr	missense variant	-	NC_000012.12:g.102894893A>G	ClinVar
rs75193786	p.Ile65Asn	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102894893A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000000668	p.Ile65Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894893A>G	ClinVar
NCI-TCGA novel	p.Ile65Leu	missense variant	-	NC_000012.12:g.102894894T>G	NCI-TCGA
RCV000106351	p.Glu66Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894891C>A	ClinVar
rs281865454	p.Glu66Ter	stop gained	-	NC_000012.12:g.102894891C>A	-
COSM1561881	p.Ser67Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894887G>C	NCI-TCGA Cosmic
rs5030842	p.Ser67Pro	missense variant	-	NC_000012.12:g.102894888A>G	ExAC,gnomAD
RCV000088867	p.Ser67Pro	missense variant	-	NC_000012.12:g.102894888A>G	ClinVar
RCV000088870	p.Arg68Gly	missense variant	-	NC_000012.12:g.102894885T>C	ClinVar
RCV000078517	p.Arg68Ser	missense variant	-	NC_000012.12:g.102894883T>A	ClinVar
rs76394784	p.Arg68Ser	missense variant	-	NC_000012.12:g.102894883T>A	ExAC,TOPMed,gnomAD
rs76394784	p.Arg68Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894883T>A	UniProt,dbSNP
VAR_000885	p.Arg68Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894883T>A	UniProt
rs199475639	p.Arg68Gly	missense variant	-	NC_000012.12:g.102894885T>C	-
RCV000088871	p.Pro69Ser	missense variant	-	NC_000012.12:g.102894882G>A	ClinVar
rs199475678	p.Pro69Ser	missense variant	-	NC_000012.12:g.102894882G>A	-
NCI-TCGA novel	p.Pro69His	missense variant	-	NC_000012.12:g.102894881G>T	NCI-TCGA
rs63048261	p.Ser70Pro	missense variant	-	NC_000012.12:g.102894879A>G	-
RCV000088874	p.Ser70Pro	missense variant	-	NC_000012.12:g.102894879A>G	ClinVar
NCI-TCGA novel	p.Ser70LeuPheSerTerUnk	frameshift	-	NC_000012.12:g.102894879_102894880insTAAGAAGAAAG	NCI-TCGA
rs866012140	p.Arg71Cys	missense variant	-	NC_000012.12:g.102894876G>A	TOPMed
RCV000672919	p.Arg71His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894875C>T	ClinVar
rs760782775	p.Leu72Val	missense variant	-	NC_000012.12:g.102894873A>C	ExAC,TOPMed,gnomAD
COSM283679	p.Lys74Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894865T>G	NCI-TCGA Cosmic
rs767453024	p.Asp75Asn	missense variant	-	NC_000012.12:g.102894864C>T	ExAC,TOPMed,gnomAD
RCV000758113	p.Asp75Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894863T>A	ClinVar
RCV000758118	p.Asp75Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894863T>C	ClinVar
RCV000088877	p.Glu76Ala	missense variant	-	NC_000012.12:g.102894860T>G	ClinVar
rs762949770	p.Glu76Ter	stop gained	-	NC_000012.12:g.102894861C>A	ExAC,gnomAD
rs762949770	p.Glu76Gln	missense variant	-	NC_000012.12:g.102894861C>G	ExAC,gnomAD
RCV000672628	p.Glu76Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894860T>C	ClinVar
rs62507347	p.Glu76Gly	missense variant	-	NC_000012.12:g.102894860T>C	-
RCV000590560	p.Glu76Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894861C>A	ClinVar
RCV000088879	p.Tyr77Ter	nonsense	-	NC_000012.12:g.102894856A>C	ClinVar
rs62507332	p.Tyr77Ter	stop gained	-	NC_000012.12:g.102894856A>C	1000Genomes,ExAC,gnomAD
COSM1358238	p.Glu78Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894853T>A	NCI-TCGA Cosmic
RCV000088880	p.Glu78Lys	missense variant	-	NC_000012.12:g.102894855C>T	ClinVar
rs62507326	p.Glu78Lys	missense variant	-	NC_000012.12:g.102894855C>T	-
RCV000190376	p.Thr81Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894845G>T	ClinVar
rs62509017	p.Thr81Pro	missense variant	-	NC_000012.12:g.102894846T>G	TOPMed
rs796064502	p.Thr81Asn	missense variant	-	NC_000012.12:g.102894845G>T	-
RCV000088882	p.Thr81Ter	frameshift	-	NC_000012.12:g.102894832_102894847del	ClinVar
RCV000088881	p.Thr81Pro	missense variant	-	NC_000012.12:g.102894846T>G	ClinVar
rs1349393789	p.His82Arg	missense variant	-	NC_000012.12:g.102894842T>C	gnomAD
rs769705809	p.His82Asn	missense variant	-	NC_000012.12:g.102894843G>T	ExAC,gnomAD
RCV000761308	p.Asp84Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894837C>A	ClinVar
rs62514902	p.Asp84Tyr	missense variant	-	NC_000012.12:g.102894837C>A	ExAC,TOPMed,gnomAD
rs62514902	p.Asp84Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894837C>A	UniProt,dbSNP
VAR_000887	p.Asp84Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894837C>A	UniProt
rs768320548	p.Arg86Cys	missense variant	-	NC_000012.12:g.102894831G>A	ExAC,TOPMed,gnomAD
rs746603180	p.Arg86His	missense variant	-	NC_000012.12:g.102894830C>T	ExAC,TOPMed,gnomAD
rs62516151	p.Ser87Arg	missense variant	-	NC_000012.12:g.102894826G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs62516151	p.Ser87Arg	missense variant	-	NC_000012.12:g.102894826G>T	UniProt,dbSNP
VAR_000888	p.Ser87Arg	missense variant	-	NC_000012.12:g.102894826G>T	UniProt
rs368152528	p.Ser87Asn	missense variant	-	NC_000012.12:g.102894827C>T	ESP,TOPMed,gnomAD
RCV000763293	p.Ser87Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894826G>T	ClinVar
rs62507270	p.Pro89Thr	missense variant	-	NC_000012.12:g.102894822G>T	TOPMed,gnomAD
rs62507270	p.Pro89Ser	missense variant	-	NC_000012.12:g.102894822G>A	TOPMed,gnomAD
RCV000088886	p.Pro89Ser	missense variant	-	NC_000012.12:g.102894822G>A	ClinVar
RCV000088887	p.Ala90Ter	frameshift	-	NC_000012.12:g.102894822dup	ClinVar
RCV000667411	p.Ala90Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102894822dup	ClinVar
NCI-TCGA novel	p.Ala90Ser	missense variant	-	NC_000012.12:g.102894819C>A	NCI-TCGA
RCV000088888	p.Thr92Ile	missense variant	-	NC_000012.12:g.102894812G>A	ClinVar
rs62514903	p.Thr92Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894812G>A	UniProt,dbSNP
VAR_000889	p.Thr92Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894812G>A	UniProt
rs62514903	p.Thr92Ile	missense variant	-	NC_000012.12:g.102894812G>A	ESP,ExAC,TOPMed,gnomAD
rs1257495145	p.Asn93Asp	missense variant	-	NC_000012.12:g.102894810T>C	TOPMed
rs62508677	p.Ile94Ser	missense variant	-	NC_000012.12:g.102894806A>C	TOPMed
rs528078207	p.Ile94Val	missense variant	-	NC_000012.12:g.102894807T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000673537	p.Ile94Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894806A>C	ClinVar
NCI-TCGA novel	p.Ile94Thr	missense variant	-	NC_000012.12:g.102894806A>G	NCI-TCGA
VAR_000890	p.Ile94del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000106353	p.Ile95Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894802_102894803delinsTG	ClinVar
rs62508682	p.Ile95Phe	missense variant	-	NC_000012.12:g.102894804T>A	ExAC,TOPMed,gnomAD
rs281865432	p.Ile95Thr	missense variant	-	NC_000012.12:g.102894802_102894803delinsTG	-
RCV000763292	p.Ile95Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894804T>A	ClinVar
COSM69072	p.Ile97AlaPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.102894791_102894798CTCAAGAT>-	NCI-TCGA Cosmic
RCV000664524	p.Ile97Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894798T>G	ClinVar
rs142516271	p.Ile97Leu	missense variant	-	NC_000012.12:g.102894798T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142516271	p.Ile97Val	missense variant	-	NC_000012.12:g.102894798T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000430873	p.Ile97Leu	missense variant	-	NC_000012.12:g.102894798T>G	ClinVar
rs62517167	p.Leu98Ser	missense variant	-	NC_000012.12:g.102894794A>G	ExAC,gnomAD
rs62517167	p.Leu98Ser	missense variant	-	NC_000012.12:g.102894794A>G	UniProt,dbSNP
VAR_000891	p.Leu98Ser	missense variant	-	NC_000012.12:g.102894794A>G	UniProt
RCV000088892	p.Leu98Ser	missense variant	-	NC_000012.12:g.102894794A>G	ClinVar
rs778230838	p.Arg99Thr	missense variant	-	NC_000012.12:g.102894791C>G	ExAC,TOPMed,gnomAD
RCV000370322	p.His100Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894788T>C	ClinVar
rs148393887	p.His100Arg	missense variant	-	NC_000012.12:g.102894788T>C	ESP,ExAC,TOPMed,gnomAD
rs1555207979	p.Asp101Asn	missense variant	-	NC_000012.12:g.102894786C>T	-
RCV000669377	p.Asp101Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894786C>T	ClinVar
rs62508591	p.Ile102Thr	missense variant	-	NC_000012.12:g.102894782A>G	-
RCV000088894	p.Ile102Thr	missense variant	-	NC_000012.12:g.102894782A>G	ClinVar
NCI-TCGA novel	p.Ile102Val	missense variant	-	NC_000012.12:g.102894783T>C	NCI-TCGA
RCV000667147	p.Gly103Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894780C>T	ClinVar
rs752792040	p.Gly103Cys	missense variant	-	NC_000012.12:g.102894780C>A	ExAC,TOPMed
RCV000669128	p.Gly103Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894780C>A	ClinVar
rs752792040	p.Gly103Ser	missense variant	-	NC_000012.12:g.102894780C>T	ExAC,TOPMed
NCI-TCGA novel	p.Gly103TrpPheSerTerUnk	frameshift	-	NC_000012.12:g.102894780_102894781insA	NCI-TCGA
rs62642929	p.Ala104Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894776G>T	UniProt,dbSNP
VAR_000892	p.Ala104Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894776G>T	UniProt
rs62642929	p.Ala104Asp	missense variant	-	NC_000012.12:g.102894776G>T	ExAC,TOPMed,gnomAD
RCV000349567	p.Ala104Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894776G>T	ClinVar
RCV000088896	p.Ala104Asp	missense variant	-	NC_000012.12:g.102894776G>T	ClinVar
rs542645236	p.His107Arg	missense variant	-	NC_000012.12:g.102894767T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000210807	p.His107Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894767T>C	ClinVar
RCV000410526	p.Ser110Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102894758del	ClinVar
RCV000088897	p.Ser110Leu	missense variant	-	NC_000012.12:g.102894758G>A	ClinVar
rs199475627	p.Ser110Leu	missense variant	-	NC_000012.12:g.102894758G>A	-
VAR_009241	p.Ser110Cys	Missense	Hyperphenylalaninemia (HPA) [MIM:261600]	-	UniProt
RCV000000611	p.Arg111Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894756G>A	ClinVar
rs868854935	p.Arg111Gln	missense variant	-	NC_000012.12:g.102894755C>T	TOPMed,gnomAD
RCV000088898	p.Arg111Ter	nonsense	-	NC_000012.12:g.102894756G>A	ClinVar
rs76296470	p.Arg111Ter	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102894756G>A	ExAC,TOPMed,gnomAD
rs1331306772	p.Lys113Glu	missense variant	-	NC_000012.12:g.102894750T>C	gnomAD
RCV000088899	p.Lys115Ter	frameshift	-	NC_000012.12:g.102894740_102894743TCTT[1]	ClinVar
COSM4453785	p.Asp116Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894740T>C	NCI-TCGA Cosmic
RCV000106354	p.Thr117Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894737G>A	ClinVar
RCV000106355	p.Thr117Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102894737del	ClinVar
rs1384860249	p.Thr117Ala	missense variant	-	NC_000012.12:g.102894738T>C	gnomAD
rs281865439	p.Thr117Ile	missense variant	-	NC_000012.12:g.102894737G>A	ExAC,TOPMed,gnomAD
rs776442422	p.Val118Met	missense variant	-	NC_000012.12:g.102894735C>T	ExAC,gnomAD
RCV000385558	p.Pro119Leu	missense variant	-	NC_000012.12:g.102877547G>A	ClinVar
RCV000178066	p.Pro119Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877548G>A	ClinVar
rs398123292	p.Pro119Ser	missense variant	-	NC_000012.12:g.102877548G>A	1000Genomes,ExAC,gnomAD
rs374999809	p.Pro119Leu	missense variant	-	NC_000012.12:g.102877547G>A	ESP,ExAC,gnomAD
rs374999809	p.Pro119Arg	missense variant	-	NC_000012.12:g.102877547G>C	ESP,ExAC,gnomAD
RCV000790751	p.Pro119Ser	missense variant	-	NC_000012.12:g.102877548G>A	ClinVar
RCV000088903	p.Trp120Ter	nonsense	-	NC_000012.12:g.102877544C>T	ClinVar
RCV000178065	p.Trp120Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102877548del	ClinVar
RCV000724124	p.Trp120Ter	frameshift	-	NC_000012.12:g.102877548del	ClinVar
rs199475586	p.Trp120Ter	stop gained	-	NC_000012.12:g.102877544C>T	-
rs775327122	p.Trp120Arg	missense variant	-	NC_000012.12:g.102877545A>G	ExAC
RCV000758109	p.Phe121Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877541A>G	ClinVar
VAR_069776	p.Phe121Leu	Missense	Hyperphenylalaninemia (HPA) [MIM:261600]	-	UniProt
RCV000088904	p.Pro122Gln	missense variant	-	NC_000012.12:g.102877538G>T	ClinVar
rs1466564208	p.Pro122Ser	missense variant	-	NC_000012.12:g.102877539G>A	gnomAD
rs199475622	p.Pro122Gln	missense variant	-	NC_000012.12:g.102877538G>T	-
RCV000666513	p.Arg123Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877535C>A	ClinVar
RCV000088906	p.Thr124Ile	missense variant	-	NC_000012.12:g.102877532G>A	ClinVar
rs199475571	p.Thr124Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877532G>A	UniProt,dbSNP
VAR_000893	p.Thr124Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877532G>A	UniProt
rs199475571	p.Thr124Ile	missense variant	-	NC_000012.12:g.102877532G>A	TOPMed,gnomAD
rs199475571	p.Thr124Asn	missense variant	-	NC_000012.12:g.102877532G>T	TOPMed,gnomAD
rs1215779649	p.Ile125Leu	missense variant	-	NC_000012.12:g.102877530T>G	gnomAD
NCI-TCGA novel	p.Gln126Glu	missense variant	-	NC_000012.12:g.102877527G>C	NCI-TCGA
RCV000664540	p.Glu127Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877524C>T	ClinVar
rs767127989	p.Glu127Asp	missense variant	-	NC_000012.12:g.102877522C>G	ExAC,gnomAD
rs1555206565	p.Glu127Lys	missense variant	-	NC_000012.12:g.102877524C>T	-
NCI-TCGA novel	p.Glu127Ter	stop gained	-	NC_000012.12:g.102877524C>A	NCI-TCGA
RCV000088909	p.Asp129Val	missense variant	-	NC_000012.12:g.102877517T>A	ClinVar
RCV000672629	p.Asp129Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877517T>C	ClinVar
RCV000088907	p.Asp129Tyr	missense variant	-	NC_000012.12:g.102877518C>A	ClinVar
rs199475623	p.Asp129Gly	missense variant	-	NC_000012.12:g.102877517T>C	gnomAD
rs199475606	p.Asp129Tyr	missense variant	-	NC_000012.12:g.102877518C>A	-
rs199475606	p.Asp129Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877518C>A	UniProt,dbSNP
VAR_000894	p.Asp129Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877518C>A	UniProt
rs199475623	p.Asp129Val	missense variant	-	NC_000012.12:g.102877517T>A	gnomAD
COSM2063946	p.Arg130Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102877514C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg130Ile	missense variant	-	NC_000012.12:g.102877514C>A	NCI-TCGA
rs1010447542	p.Ala132Thr	missense variant	-	NC_000012.12:g.102877509C>T	TOPMed,gnomAD
RCV000531628	p.Asn133Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102877504_102877507del	ClinVar
RCV000088910	p.Asn133Ter	frameshift	-	NC_000012.12:g.102877504_102877507del	ClinVar
rs1297932046	p.Asn133Ser	missense variant	-	NC_000012.12:g.102877505T>C	gnomAD
NCI-TCGA novel	p.Asn133Thr	missense variant	-	NC_000012.12:g.102877505T>G	NCI-TCGA
RCV000169559	p.Gln134Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102877503G>A	ClinVar
COSM1358237	p.Leu136Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102877497G>T	NCI-TCGA Cosmic
rs1362836017	p.Leu136Arg	missense variant	-	NC_000012.12:g.102877496A>C	gnomAD
rs1251581968	p.Tyr138Cys	missense variant	-	NC_000012.12:g.102877490T>C	TOPMed
rs375384973	p.Gly139Glu	missense variant	-	NC_000012.12:g.102877487C>T	ESP,ExAC,TOPMed,gnomAD
rs372657268	p.Ala140Val	missense variant	-	NC_000012.12:g.102877484G>A	ESP,ExAC,TOPMed,gnomAD
rs372657268	p.Ala140Gly	missense variant	-	NC_000012.12:g.102877484G>C	ESP,ExAC,TOPMed,gnomAD
rs372657268	p.Ala140Glu	missense variant	-	NC_000012.12:g.102877484G>T	ESP,ExAC,TOPMed,gnomAD
RCV000088914	p.Asp143Gly	missense variant	-	NC_000012.12:g.102877475T>C	ClinVar
rs1009545424	p.Asp143Asn	missense variant	-	NC_000012.12:g.102877476C>T	TOPMed
rs199475572	p.Asp143Gly	missense variant	-	NC_000012.12:g.102877475T>C	gnomAD
rs199475572	p.Asp143Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877475T>C	UniProt,dbSNP
VAR_000895	p.Asp143Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877475T>C	UniProt
rs199475572	p.Asp143Val	missense variant	-	NC_000012.12:g.102877475T>A	gnomAD
NCI-TCGA novel	p.Asp143Tyr	missense variant	-	NC_000012.12:g.102877476C>A	NCI-TCGA
RCV000546355	p.Asp145Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877469T>A	ClinVar
rs1375045653	p.Asp145Glu	missense variant	-	NC_000012.12:g.102877468G>T	TOPMed,gnomAD
rs140175796	p.Asp145Val	missense variant	-	NC_000012.12:g.102877469T>A	ESP,ExAC,TOPMed,gnomAD
rs140175796	p.Asp145Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877469T>A	UniProt,dbSNP
VAR_011566	p.Asp145Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877469T>A	UniProt
RCV000088916	p.His146Tyr	missense variant	-	NC_000012.12:g.102877467G>A	ClinVar
rs199475599	p.His146Tyr	missense variant	-	NC_000012.12:g.102877467G>A	-
rs199475599	p.His146Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877467G>A	UniProt,dbSNP
VAR_000896	p.His146Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877467G>A	UniProt
RCV000088917	p.Pro147Ser	missense variant	-	NC_000012.12:g.102877464G>A	ClinVar
RCV000088918	p.Pro147Leu	missense variant	-	NC_000012.12:g.102877463G>A	ClinVar
rs199475694	p.Pro147Leu	missense variant	-	NC_000012.12:g.102877463G>A	-
rs199475624	p.Pro147Ser	missense variant	-	NC_000012.12:g.102877464G>A	TOPMed,gnomAD
RCV000088928	p.Gly148Ser	missense variant	-	NC_000012.12:g.102866663C>T	ClinVar
rs1555205655	p.Gly148Val	missense variant	-	NC_000012.12:g.102866662C>A	-
rs80297647	p.Gly148Ser	missense variant	-	NC_000012.12:g.102866663C>T	gnomAD
rs80297647	p.Gly148Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866663C>T	UniProt,dbSNP
VAR_000897	p.Gly148Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866663C>T	UniProt
RCV000667958	p.Gly148Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866662C>A	ClinVar
RCV000088931	p.Asp151Gly	missense variant	-	NC_000012.12:g.102866653T>C	ClinVar
RCV000088930	p.Asp151His	missense variant	-	NC_000012.12:g.102866654C>G	ClinVar
COSM1358236	p.Asp151Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102866654C>A	NCI-TCGA Cosmic
rs199475625	p.Asp151Gly	missense variant	-	NC_000012.12:g.102866653T>C	-
rs199475597	p.Asp151His	missense variant	-	NC_000012.12:g.102866654C>G	-
rs199475597	p.Asp151His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866654C>G	UniProt,dbSNP
VAR_000898	p.Asp151His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866654C>G	UniProt
RCV000759178	p.Tyr154Phe	missense variant	-	NC_000012.12:g.102866644T>A	ClinVar
RCV000088933	p.Tyr154His	missense variant	-	NC_000012.12:g.102866645A>G	ClinVar
RCV000088932	p.Tyr154Asn	missense variant	-	NC_000012.12:g.102866645A>T	ClinVar
rs199475587	p.Tyr154Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866645A>T	UniProt,dbSNP
VAR_000899	p.Tyr154Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866645A>T	UniProt
rs199475587	p.Tyr154Asn	missense variant	-	NC_000012.12:g.102866645A>T	-
rs199475587	p.Tyr154His	missense variant	-	NC_000012.12:g.102866645A>G	-
RCV000088934	p.Arg155His	missense variant	-	NC_000012.12:g.102866641C>T	ClinVar
RCV000675156	p.Arg155Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866641C>G	ClinVar
rs539743701	p.Arg155Cys	missense variant	-	NC_000012.12:g.102866642G>A	1000Genomes,ExAC,gnomAD
rs199475663	p.Arg155His	missense variant	-	NC_000012.12:g.102866641C>T	ExAC,TOPMed,gnomAD
rs199475663	p.Arg155Pro	missense variant	-	NC_000012.12:g.102866641C>G	ExAC,TOPMed,gnomAD
rs199475663	p.Arg155Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866641C>G	UniProt,dbSNP
VAR_009242	p.Arg155Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866641C>G	UniProt
RCV000669560	p.Arg155Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866642G>A	ClinVar
RCV000088936	p.Ala156Pro	missense variant	-	NC_000012.12:g.102866639C>G	ClinVar
rs199475686	p.Ala156Pro	missense variant	-	NC_000012.12:g.102866639C>G	-
rs570748767	p.Ala156Val	missense variant	-	NC_000012.12:g.102866638G>A	1000Genomes
RCV000088938	p.Arg157Lys	missense variant	-	NC_000012.12:g.102866635C>T	ClinVar
RCV000758125	p.Arg157Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866635C>G	ClinVar
RCV000088939	p.Arg157Ile	missense variant	-	NC_000012.12:g.102866635C>A	ClinVar
RCV000088940	p.Arg157Ser	missense variant	-	NC_000012.12:g.102866634T>G	ClinVar
rs199475611	p.Arg157Lys	missense variant	-	NC_000012.12:g.102866635C>T	-
rs199475612	p.Arg157Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866634T>G	UniProt,dbSNP
VAR_068000	p.Arg157Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866634T>G	UniProt
rs199475612	p.Arg157Ser	missense variant	-	NC_000012.12:g.102866634T>G	TOPMed
rs199475611	p.Arg157Ile	missense variant	-	NC_000012.12:g.102866635C>A	-
RCV000721919	p.Arg157Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866634_102866635delinsGT	ClinVar
VAR_000900	p.Arg157Asn	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000078522	p.Arg158Gln	missense variant	-	NC_000012.12:g.102866632C>T	ClinVar
RCV000088941	p.Arg158Trp	missense variant	-	NC_000012.12:g.102866633G>A	ClinVar
rs5030843	p.Arg158Pro	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102866632C>G	ESP,ExAC,TOPMed,gnomAD
rs75166491	p.Arg158Trp	missense variant	-	NC_000012.12:g.102866633G>A	ESP,ExAC,TOPMed,gnomAD
rs5030843	p.Arg158Gln	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102866632C>T	ESP,ExAC,TOPMed,gnomAD
RCV000758092	p.Arg158Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866632C>G	ClinVar
RCV000000618	p.Arg158Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866632C>T	ClinVar
RCV000409986	p.Arg158Trp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866633G>A	ClinVar
RCV000088943	p.Gln160Pro	missense variant	-	NC_000012.12:g.102866626T>G	ClinVar
rs199475601	p.Gln160Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866626T>G	UniProt,dbSNP
VAR_000903	p.Gln160Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866626T>G	UniProt
rs199475601	p.Gln160Arg	missense variant	-	NC_000012.12:g.102866626T>C	gnomAD
rs199475601	p.Gln160Pro	missense variant	-	NC_000012.12:g.102866626T>G	gnomAD
RCV000674841	p.Phe161Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866623A>G	ClinVar
rs79635844	p.Phe161Ser	missense variant	-	NC_000012.12:g.102866623A>G	TOPMed
rs547566250	p.Ala162Ser	missense variant	-	NC_000012.12:g.102866621C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000088947	p.Ile164Thr	missense variant	-	NC_000012.12:g.102866614A>G	ClinVar
RCV000535090	p.Ile164Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866615T>C	ClinVar
rs199475595	p.Ile164Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866614A>G	UniProt,dbSNP
VAR_000905	p.Ile164Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866614A>G	UniProt
rs199475595	p.Ile164Thr	missense variant	-	NC_000012.12:g.102866614A>G	-
rs199475647	p.Ile164Val	missense variant	-	NC_000012.12:g.102866615T>C	ExAC,TOPMed,gnomAD
RCV000672775	p.Ala165Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866612C>G	ClinVar
RCV000088948	p.Ala165Thr	missense variant	-	NC_000012.12:g.102866612C>T	ClinVar
rs199475626	p.Ala165Pro	missense variant	-	NC_000012.12:g.102866612C>G	ExAC,TOPMed,gnomAD
rs199475626	p.Ala165Thr	missense variant	-	NC_000012.12:g.102866612C>T	ExAC,TOPMed,gnomAD
RCV000410899	p.Tyr166Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102866607G>C	ClinVar
RCV000088950	p.Tyr166Ter	nonsense	-	NC_000012.12:g.102866607G>T	ClinVar
rs199475645	p.Tyr166Ter	stop gained	-	NC_000012.12:g.102866607G>T	-
rs753254031	p.Tyr166Cys	missense variant	-	NC_000012.12:g.102866608T>C	ExAC,gnomAD
rs199475645	p.Tyr166Ter	stop gained	-	NC_000012.12:g.102866607G>C	-
RCV000088951	p.Asn167Ser	missense variant	-	NC_000012.12:g.102866605T>C	ClinVar
RCV000412232	p.Asn167Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866605T>A	ClinVar
rs77554925	p.Asn167Ile	missense variant	-	NC_000012.12:g.102866605T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77554925	p.Asn167Ser	missense variant	-	NC_000012.12:g.102866605T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1210056131	p.Asn167Tyr	missense variant	-	NC_000012.12:g.102866606T>A	TOPMed,gnomAD
RCV000375882	p.Tyr168Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102866602del	ClinVar
RCV000088952	p.Tyr168His	missense variant	-	NC_000012.12:g.102866603A>G	ClinVar
RCV000106358	p.Tyr168Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102866601G>T	ClinVar
RCV000088953	p.Tyr168Ter	frameshift	-	NC_000012.12:g.102866602del	ClinVar
rs199475646	p.Tyr168Asn	missense variant	-	NC_000012.12:g.102866603A>T	TOPMed
rs199475646	p.Tyr168His	missense variant	-	NC_000012.12:g.102866603A>G	TOPMed
rs281865455	p.Tyr168Ter	stop gained	-	NC_000012.12:g.102866601G>T	-
RCV000111461	p.Arg169Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866600G>A	ClinVar
RCV000311018	p.Arg169His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>T	ClinVar
RCV000515792	p.Arg169Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>G	ClinVar
RCV000666071	p.Arg169Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866600G>C	ClinVar
rs281865440	p.Arg169Gly	missense variant	-	NC_000012.12:g.102866600G>C	ExAC,TOPMed,gnomAD
rs281865440	p.Arg169Cys	missense variant	-	NC_000012.12:g.102866600G>A	ExAC,TOPMed,gnomAD
rs199475679	p.Arg169Pro	missense variant	-	NC_000012.12:g.102866599C>G	ExAC,TOPMed,gnomAD
rs199475679	p.Arg169His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>T	UniProt,dbSNP
VAR_011568	p.Arg169His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>T	UniProt
rs199475679	p.Arg169His	missense variant	-	NC_000012.12:g.102866599C>T	ExAC,TOPMed,gnomAD
RCV000150088	p.His170Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866597G>C	ClinVar
RCV000088959	p.His170Arg	missense variant	-	NC_000012.12:g.102866596T>C	ClinVar
RCV000078524	p.His170Asp	missense variant	-	NC_000012.12:g.102866597G>C	ClinVar
rs199475573	p.His170Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866596T>C	UniProt,dbSNP
VAR_000907	p.His170Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866596T>C	UniProt
rs199475573	p.His170Arg	missense variant	-	NC_000012.12:g.102866596T>C	-
RCV000088963	p.His170Gln	missense variant	-	NC_000012.12:g.102855332A>T	ClinVar
rs199475655	p.His170Asp	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102866597G>C	UniProt,dbSNP
VAR_011569	p.His170Asp	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102866597G>C	UniProt
rs199475655	p.His170Asp	missense variant	-	NC_000012.12:g.102866597G>C	TOPMed,gnomAD
rs199475652	p.His170Gln	missense variant	-	NC_000012.12:g.102855332A>C	ExAC,TOPMed,gnomAD
rs199475652	p.His170Gln	missense variant	-	NC_000012.12:g.102855332A>T	ExAC,TOPMed,gnomAD
rs199475652	p.His170Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855332A>T	UniProt,dbSNP
VAR_068001	p.His170Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855332A>T	UniProt
RCV000560269	p.Gly171Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855331C>T	ClinVar
RCV000088965	p.Gly171Ala	missense variant	-	NC_000012.12:g.102855330C>G	ClinVar
rs199475613	p.Gly171Trp	missense variant	-	NC_000012.12:g.102855331C>A	ExAC
rs199475613	p.Gly171Arg	missense variant	-	NC_000012.12:g.102855331C>T	ExAC
rs199475613	p.Gly171Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855331C>T	UniProt,dbSNP
VAR_000909	p.Gly171Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855331C>T	UniProt
rs199475596	p.Gly171Ala	missense variant	-	NC_000012.12:g.102855330C>G	-
rs199475596	p.Gly171Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855330C>G	UniProt,dbSNP
VAR_000908	p.Gly171Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855330C>G	UniProt
RCV000088966	p.Gln172Ter	nonsense	-	NC_000012.12:g.102855328G>A	ClinVar
rs192592111	p.Gln172His	missense variant	-	NC_000012.12:g.102855326C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199475588	p.Gln172Ter	stop gained	-	NC_000012.12:g.102855328G>A	-
RCV000088967	p.Pro173Thr	missense variant	-	NC_000012.12:g.102855325G>T	ClinVar
rs199475574	p.Pro173Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855325G>T	UniProt,dbSNP
VAR_000910	p.Pro173Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855325G>T	UniProt
rs199475574	p.Pro173Thr	missense variant	-	NC_000012.12:g.102855325G>T	-
rs138809906	p.Ile174Asn	missense variant	-	NC_000012.12:g.102855321A>T	ESP,ExAC,gnomAD
RCV000675155	p.Ile174Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855322T>C	ClinVar
RCV000088969	p.Ile174Thr	missense variant	-	NC_000012.12:g.102855321A>G	ClinVar
rs199475632	p.Ile174Val	missense variant	-	NC_000012.12:g.102855322T>C	-
rs199475632	p.Ile174Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855322T>C	UniProt,dbSNP
VAR_011570	p.Ile174Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855322T>C	UniProt
rs138809906	p.Ile174Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855321A>G	UniProt,dbSNP
VAR_000911	p.Ile174Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855321A>G	UniProt
rs138809906	p.Ile174Thr	missense variant	-	NC_000012.12:g.102855321A>G	ESP,ExAC,gnomAD
RCV000088970	p.Pro175Ala	missense variant	-	NC_000012.12:g.102855319G>C	ClinVar
RCV000671178	p.Pro175Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855319G>A	ClinVar
rs1325591065	p.Pro175Arg	missense variant	-	NC_000012.12:g.102855318G>C	TOPMed
rs199475604	p.Pro175Ala	missense variant	-	NC_000012.12:g.102855319G>C	-
rs199475604	p.Pro175Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855319G>C	UniProt,dbSNP
VAR_000912	p.Pro175Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855319G>C	UniProt
rs199475604	p.Pro175Ser	missense variant	-	NC_000012.12:g.102855319G>A	-
RCV000088971	p.Arg176Ter	nonsense	-	NC_000012.12:g.102855316G>A	ClinVar
RCV000179282	p.Arg176Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855316G>A	ClinVar
RCV000088974	p.Arg176Leu	missense variant	-	NC_000012.12:g.102855315C>A	ClinVar
RCV000810165	p.Arg176Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>T	ClinVar
rs74486803	p.Arg176Gln	missense variant	-	NC_000012.12:g.102855315C>T	ESP,ExAC,TOPMed,gnomAD
rs74486803	p.Arg176Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>G	UniProt,dbSNP
VAR_000914	p.Arg176Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>G	UniProt
rs74486803	p.Arg176Pro	missense variant	-	NC_000012.12:g.102855315C>G	ESP,ExAC,TOPMed,gnomAD
rs199475575	p.Arg176Ter	stop gained	-	NC_000012.12:g.102855316G>A	ExAC,TOPMed,gnomAD
rs74486803	p.Arg176Leu	missense variant	-	NC_000012.12:g.102855315C>A	ESP,ExAC,TOPMed,gnomAD
rs74486803	p.Arg176Leu	missense variant	-	NC_000012.12:g.102855315C>A	UniProt,dbSNP
VAR_000913	p.Arg176Leu	missense variant	-	NC_000012.12:g.102855315C>A	UniProt
RCV000088973	p.Arg176Pro	missense variant	-	NC_000012.12:g.102855315C>G	ClinVar
RCV000346024	p.Arg176Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>A	ClinVar
RCV000000663	p.Arg176Leu	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102855315C>A	ClinVar
RCV000589313	p.Val177Met	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102855313C>T	ClinVar
RCV000669836	p.Val177Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>G	ClinVar
RCV000534379	p.Val177Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>T	ClinVar
rs199475602	p.Val177Met	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102855313C>T	UniProt,dbSNP
VAR_068002	p.Val177Met	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102855313C>T	UniProt
rs199475602	p.Val177Met	missense variant	-	NC_000012.12:g.102855313C>T	ESP,ExAC,TOPMed,gnomAD
rs199475602	p.Val177Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>G	UniProt,dbSNP
VAR_000915	p.Val177Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>G	UniProt
rs199475602	p.Val177Leu	missense variant	-	NC_000012.12:g.102855313C>G	ESP,ExAC,TOPMed,gnomAD
RCV000078526	p.Glu178Gly	missense variant	-	NC_000012.12:g.102855309T>C	ClinVar
RCV000088977	p.Glu178Val	missense variant	-	NC_000012.12:g.102855309T>A	ClinVar
RCV000150087	p.Glu178Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855309T>C	ClinVar
rs77958223	p.Glu178Gly	missense variant	-	NC_000012.12:g.102855309T>C	ExAC,TOPMed,gnomAD
rs1448720360	p.Glu178Lys	missense variant	-	NC_000012.12:g.102855310C>T	TOPMed,gnomAD
rs77958223	p.Glu178Val	missense variant	-	NC_000012.12:g.102855309T>A	ExAC,TOPMed,gnomAD
RCV000088979	p.Tyr179His	missense variant	-	NC_000012.12:g.102855307A>G	ClinVar
RCV000721182	p.Tyr179Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855307A>T	ClinVar
rs199475671	p.Tyr179Asn	missense variant	-	NC_000012.12:g.102855307A>T	-
rs199475671	p.Tyr179His	missense variant	-	NC_000012.12:g.102855307A>G	-
rs745723155	p.Met180Arg	missense variant	-	NC_000012.12:g.102855303A>C	ExAC,gnomAD
NCI-TCGA novel	p.Met180Leu	missense variant	-	NC_000012.12:g.102855304T>A	NCI-TCGA
rs1432001010	p.Glu181Lys	missense variant	-	NC_000012.12:g.102855301C>T	TOPMed
RCV000088980	p.Glu182Gly	missense variant	-	NC_000012.12:g.102855297T>C	ClinVar
COSM3416399	p.Glu182Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855298C>T	NCI-TCGA Cosmic
rs199475617	p.Glu182Gly	missense variant	-	NC_000012.12:g.102855297T>C	ExAC,gnomAD
RCV000106359	p.Glu183Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855294_102855295delinsAA	ClinVar
RCV000088981	p.Glu183Gln	missense variant	-	NC_000012.12:g.102855295C>G	ClinVar
rs281865433	p.Glu183Leu	missense variant	-	NC_000012.12:g.102855294_102855295delinsAA	-
rs199475664	p.Glu183Lys	missense variant	-	NC_000012.12:g.102855295C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu183Ter	stop gained	-	NC_000012.12:g.102855295C>A	NCI-TCGA
rs199475664	p.Glu183Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855295C>G	UniProt,dbSNP
VAR_009243	p.Glu183Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855295C>G	UniProt
rs199475664	p.Glu183Gln	missense variant	-	NC_000012.12:g.102855295C>G	ExAC,gnomAD
rs1311748050	p.Lys184Gln	missense variant	-	NC_000012.12:g.102855292T>G	gnomAD
COSM4038089	p.Thr186Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855286T>G	NCI-TCGA Cosmic
RCV000088982	p.Thr186Ter	frameshift	-	NC_000012.12:g.102855289del	ClinVar
RCV000586383	p.Thr186Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855289del	ClinVar
NCI-TCGA novel	p.Thr186Ala	missense variant	-	NC_000012.12:g.102855286T>C	NCI-TCGA
RCV000668474	p.Trp187Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855281C>G	ClinVar
RCV000088985	p.Trp187Ter	nonsense	-	NC_000012.12:g.102855281C>T	ClinVar
RCV000671079	p.Trp187Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855283A>G	ClinVar
rs62507336	p.Trp187Ter	stop gained	-	NC_000012.12:g.102855281C>T	TOPMed,gnomAD
rs62507336	p.Trp187Cys	missense variant	-	NC_000012.12:g.102855281C>G	TOPMed,gnomAD
rs62507272	p.Trp187Arg	missense variant	-	NC_000012.12:g.102855283A>G	-
RCV000412455	p.Trp187Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855283_102855284del	ClinVar
RCV000169529	p.Trp187Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855281C>T	ClinVar
RCV000088983	p.Trp187Ter	frameshift	-	NC_000012.12:g.102855283_102855284del	ClinVar
RCV000674846	p.Gly188Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855279C>T	ClinVar
RCV000088988	p.Gly188Ter	frameshift	-	NC_000012.12:g.102855282del	ClinVar
rs199475689	p.Gly188Ala	missense variant	-	NC_000012.12:g.102855279C>G	ExAC,gnomAD
rs199475689	p.Gly188Asp	missense variant	-	NC_000012.12:g.102855279C>T	ExAC,gnomAD
rs1555204728	p.Thr189Arg	missense variant	-	NC_000012.12:g.102855276G>C	-
RCV000522171	p.Thr189Arg	missense variant	-	NC_000012.12:g.102855276G>C	ClinVar
RCV000106360	p.Val190Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855274C>T	ClinVar
RCV000632878	p.Val190Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855273A>G	ClinVar
rs281865441	p.Val190Met	missense variant	-	NC_000012.12:g.102855274C>T	TOPMed
NCI-TCGA novel	p.Val190LeuPheSerTerUnk	frameshift	-	NC_000012.12:g.102855275_102855276insTAAAGCCCAAG	NCI-TCGA
rs62514919	p.Val190Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855273A>G	UniProt,dbSNP
VAR_000917	p.Val190Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855273A>G	UniProt
rs62514919	p.Val190Ala	missense variant	-	NC_000012.12:g.102855273A>G	ExAC
NCI-TCGA novel	p.Phe191Cys	missense variant	-	NC_000012.12:g.102855270A>C	NCI-TCGA
COSM4038088	p.Lys192Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855266C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr193Asn	missense variant	-	NC_000012.12:g.102855264G>T	NCI-TCGA
NCI-TCGA novel	p.Thr193Ile	missense variant	-	NC_000012.12:g.102855264G>A	NCI-TCGA
RCV000411842	p.Leu194Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855261A>G	ClinVar
RCV000088990	p.Leu194Ter	frameshift	-	NC_000012.12:g.102855261_102855262AG[1]	ClinVar
rs5030844	p.Leu194Pro	missense variant	-	NC_000012.12:g.102855261A>G	ExAC,gnomAD
RCV000169180	p.Leu194Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855261_102855262AG[1]	ClinVar
VAR_000919	p.Leu194del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
NCI-TCGA novel	p.Lys195Asn	missense variant	-	NC_000012.12:g.102855257C>A	NCI-TCGA
RCV000672941	p.Ser196Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855255G>T	ClinVar
RCV000088992	p.Ser196Ter	frameshift	-	NC_000012.12:g.102855235_102855257del	ClinVar
rs865899394	p.Ser196Tyr	missense variant	-	NC_000012.12:g.102855255G>T	gnomAD
rs865899394	p.Ser196Phe	missense variant	-	NC_000012.12:g.102855255G>A	gnomAD
RCV000088994	p.Ser196Ter	nonsense	-	NC_000012.12:g.102855231_102855253del	ClinVar
RCV000300336	p.Leu197Trp	missense variant	-	NC_000012.12:g.102855252A>C	ClinVar
RCV000106361	p.Leu197Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855251C>G	ClinVar
rs886042078	p.Leu197Trp	missense variant	-	NC_000012.12:g.102855252A>C	-
rs281865442	p.Leu197Phe	missense variant	-	NC_000012.12:g.102855251C>G	-
VAR_000920	p.Leu197del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000587795	p.Tyr198Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855231_102855252del	ClinVar
RCV000088995	p.Tyr198Ter	frameshift	-	NC_000012.12:g.102855231_102855252del	ClinVar
RCV000088996	p.Tyr198Ter	frameshift	-	NC_000012.12:g.102855228_102855249del	ClinVar
VAR_000921	p.Tyr198del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
NCI-TCGA novel	p.Lys199ArgPheSerTerUnk	frameshift	-	NC_000012.12:g.102855246_102855247insC	NCI-TCGA
RCV000088997	p.Thr200Ter	frameshift	-	NC_000012.12:g.102855247dup	ClinVar
RCV000509208	p.His201Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855241G>A	ClinVar
RCV000806196	p.His201Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855240T>C	ClinVar
RCV000588479	p.His201Tyr	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102855241G>A	ClinVar
rs62517205	p.His201Tyr	missense variant	-	NC_000012.12:g.102855241G>A	gnomAD
rs62517205	p.His201Tyr	missense variant	-	NC_000012.12:g.102855241G>A	UniProt,dbSNP
VAR_000923	p.His201Tyr	missense variant	-	NC_000012.12:g.102855241G>A	UniProt
rs751977644	p.His201Gln	missense variant	-	NC_000012.12:g.102855239A>T	ExAC,gnomAD
rs62517180	p.His201Arg	missense variant	-	NC_000012.12:g.102855240T>C	-
rs62517180	p.His201Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855240T>C	UniProt,dbSNP
VAR_000922	p.His201Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855240T>C	UniProt
RCV000089003	p.Cys203Tyr	missense variant	-	NC_000012.12:g.102855234C>T	ClinVar
rs1555204715	p.Cys203Ser	missense variant	-	NC_000012.12:g.102855235A>T	-
rs1801147	p.Cys203Trp	missense variant	-	NC_000012.12:g.102855233G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62507271	p.Cys203Tyr	missense variant	-	NC_000012.12:g.102855234C>T	-
RCV000089004	p.Cys203Trp	missense variant	-	NC_000012.12:g.102855233G>C	ClinVar
RCV000592101	p.Cys203Ser	missense variant	-	NC_000012.12:g.102855235A>T	ClinVar
RCV000686246	p.Tyr204Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855230A>C	ClinVar
rs62514927	p.Tyr204Cys	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102855231T>C	ExAC,TOPMed,gnomAD
rs62514927	p.Tyr204Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855231T>C	UniProt,dbSNP
VAR_000924	p.Tyr204Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855231T>C	UniProt
rs62514928	p.Tyr204Ter	stop gained	-	NC_000012.12:g.102855230A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000000621	p.Tyr204Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855231T>C	ClinVar
RCV000089008	p.Tyr204Ter	nonsense	-	NC_000012.12:g.102855230A>C	ClinVar
RCV000666269	p.Tyr204Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855232dup	ClinVar
rs62508593	p.Glu205Ala	missense variant	-	NC_000012.12:g.102855228T>G	-
rs63083560	p.Glu205Lys	missense variant	-	NC_000012.12:g.102855229C>T	-
rs765552494	p.Glu205Asp	missense variant	-	NC_000012.12:g.102855227C>G	ExAC,gnomAD
RCV000089010	p.Glu205Ala	missense variant	-	NC_000012.12:g.102855228T>G	ClinVar
RCV000089009	p.Glu205Lys	missense variant	-	NC_000012.12:g.102855229C>T	ClinVar
RCV000578371	p.Tyr206Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855224G>C	ClinVar
RCV000089011	p.Tyr206Asp	missense variant	-	NC_000012.12:g.102855226A>C	ClinVar
rs62517201	p.Tyr206Ter	stop gained	-	NC_000012.12:g.102855224G>T	ExAC,TOPMed,gnomAD
rs62517201	p.Tyr206Ter	stop gained	-	NC_000012.12:g.102855224G>C	ExAC,TOPMed,gnomAD
RCV000666489	p.Tyr206Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855225T>C	ClinVar
rs62517170	p.Tyr206Asp	missense variant	-	NC_000012.12:g.102855226A>C	-
rs62517170	p.Tyr206Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855226A>C	UniProt,dbSNP
VAR_000925	p.Tyr206Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855226A>C	UniProt
rs62508728	p.Tyr206Cys	missense variant	-	NC_000012.12:g.102855225T>C	-
RCV000672692	p.Tyr206Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855224G>T	ClinVar
rs62508572	p.Asn207Asp	missense variant	-	NC_000012.12:g.102855223T>C	-
rs62508721	p.Asn207Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855222T>C	UniProt,dbSNP
VAR_000927	p.Asn207Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855222T>C	UniProt
rs62508721	p.Asn207Ser	missense variant	-	NC_000012.12:g.102855222T>C	-
RCV000089014	p.Asn207Asp	missense variant	-	NC_000012.12:g.102855223T>C	ClinVar
RCV000668775	p.Asn207Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855222T>C	ClinVar
rs1409955402	p.Ile209Asn	missense variant	-	NC_000012.12:g.102855216A>T	gnomAD
rs1409955402	p.Ile209Thr	missense variant	-	NC_000012.12:g.102855216A>G	gnomAD
NCI-TCGA novel	p.Phe210Tyr	missense variant	-	NC_000012.12:g.102855213A>T	NCI-TCGA
RCV000106364	p.Pro211Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855210G>A	ClinVar
COSM2063932	p.Pro211Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855211G>A	NCI-TCGA Cosmic
RCV000089017	p.Pro211Ter	frameshift	-	NC_000012.12:g.102855211del	ClinVar
rs62514931	p.Pro211Thr	missense variant	-	NC_000012.12:g.102855211G>T	TOPMed,gnomAD
rs62514931	p.Pro211Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855211G>T	UniProt,dbSNP
VAR_000928	p.Pro211Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855211G>T	UniProt
rs281865443	p.Pro211Gln	missense variant	-	NC_000012.12:g.102855210G>T	gnomAD
rs281865443	p.Pro211Leu	missense variant	-	NC_000012.12:g.102855210G>A	gnomAD
RCV000411734	p.Pro211Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855211del	ClinVar
RCV000089016	p.Pro211Thr	missense variant	-	NC_000012.12:g.102855211G>T	ClinVar
RCV000671113	p.Leu212Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855207A>G	ClinVar
rs62517198	p.Leu212Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855207A>G	UniProt,dbSNP
VAR_000929	p.Leu212Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855207A>G	UniProt
rs62517198	p.Leu212Pro	missense variant	-	NC_000012.12:g.102855207A>G	-
RCV000493939	p.Leu213Phe	missense variant	-	NC_000012.12:g.102855205G>A	ClinVar
rs62516109	p.Leu213Pro	missense variant	-	NC_000012.12:g.102855204A>G	-
rs62516109	p.Leu213Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855204A>G	UniProt,dbSNP
VAR_000930	p.Leu213Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855204A>G	UniProt
RCV000150086	p.Leu213Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855204A>G	ClinVar
RCV000078527	p.Leu213Pro	missense variant	-	NC_000012.12:g.102855204A>G	ClinVar
rs1131691945	p.Leu213Phe	missense variant	-	NC_000012.12:g.102855205G>A	-
NCI-TCGA novel	p.Glu214Ter	stop gained	-	NC_000012.12:g.102855202C>A	NCI-TCGA
COSM1358233	p.Lys215Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855198T>A	NCI-TCGA Cosmic
rs1166839656	p.Lys215Glu	missense variant	-	NC_000012.12:g.102855199T>C	gnomAD
RCV000089019	p.Tyr216Ter	nonsense	-	NC_000012.12:g.102855194G>C	ClinVar
rs62509013	p.Tyr216Ter	stop gained	-	NC_000012.12:g.102855194G>C	TOPMed
RCV000179283	p.Tyr216Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855194G>C	ClinVar
NCI-TCGA novel	p.Tyr216Asn	missense variant	-	NC_000012.12:g.102855196A>T	NCI-TCGA
RCV000664975	p.Cys217Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855193A>G	ClinVar
RCV000089021	p.Cys217Gly	missense variant	-	NC_000012.12:g.102855193A>C	ClinVar
rs62508617	p.Cys217Tyr	missense variant	-	NC_000012.12:g.102855192C>T	-
rs62508718	p.Cys217Arg	missense variant	-	NC_000012.12:g.102855193A>G	-
RCV000758101	p.Cys217Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855192C>T	ClinVar
rs62508718	p.Cys217Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855193A>C	UniProt,dbSNP
VAR_000931	p.Cys217Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855193A>C	UniProt
rs62508718	p.Cys217Gly	missense variant	-	NC_000012.12:g.102855193A>C	-
RCV000705590	p.Gly218Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855189C>A	ClinVar
rs62514933	p.Gly218Val	missense variant	-	NC_000012.12:g.102855189C>A	ExAC,TOPMed,gnomAD
rs62514933	p.Gly218Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855189C>A	UniProt,dbSNP
VAR_000932	p.Gly218Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855189C>A	UniProt
rs1164279708	p.Phe219Tyr	missense variant	-	NC_000012.12:g.102855186A>T	gnomAD
COSM3455202	p.Glu221Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855181C>T	NCI-TCGA Cosmic
rs62514934	p.Glu221Gly	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102855180T>C	ExAC,gnomAD
rs62514934	p.Glu221Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855180T>C	UniProt,dbSNP
VAR_000933	p.Glu221Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855180T>C	UniProt
RCV000089024	p.Glu221Gly	missense variant	-	NC_000012.12:g.102855180T>C	ClinVar
RCV000089027	p.Asp222Val	missense variant	-	NC_000012.12:g.102855177T>A	ClinVar
rs62507319	p.Asp222Gly	missense variant	-	NC_000012.12:g.102855177T>C	-
rs62507319	p.Asp222Val	missense variant	-	NC_000012.12:g.102855177T>A	-
rs1263259211	p.Asp222Glu	missense variant	-	NC_000012.12:g.102855176A>C	TOPMed
RCV000089026	p.Asp222Gly	missense variant	-	NC_000012.12:g.102855177T>C	ClinVar
RCV000664486	p.Asn223Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855174T>A	ClinVar
rs201245932	p.Asn223Ile	missense variant	-	NC_000012.12:g.102855174T>A	ESP,ExAC,TOPMed,gnomAD
rs201245932	p.Asn223Ser	missense variant	-	NC_000012.12:g.102855174T>C	ESP,ExAC,TOPMed,gnomAD
RCV000089029	p.Ile224Met	missense variant	-	NC_000012.12:g.102855170A>C	ClinVar
RCV000089028	p.Ile224Thr	missense variant	-	NC_000012.12:g.102855171A>G	ClinVar
rs199475576	p.Ile224Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855170A>C	UniProt,dbSNP
VAR_000935	p.Ile224Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855170A>C	UniProt
rs199475576	p.Ile224Met	missense variant	-	NC_000012.12:g.102855170A>C	-
rs62507323	p.Ile224Thr	missense variant	-	NC_000012.12:g.102855171A>G	-
RCV000089031	p.Pro225Ala	missense variant	-	NC_000012.12:g.102855169G>C	ClinVar
RCV000673267	p.Pro225Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855169G>T	ClinVar
rs62517204	p.Pro225Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855168G>C	UniProt,dbSNP
VAR_000936	p.Pro225Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855168G>C	UniProt
rs62517204	p.Pro225Arg	missense variant	-	NC_000012.12:g.102855168G>C	ExAC,gnomAD
rs199475589	p.Pro225Ala	missense variant	-	NC_000012.12:g.102855169G>C	-
rs62517204	p.Pro225Leu	missense variant	-	NC_000012.12:g.102855168G>A	ExAC,gnomAD
rs199475589	p.Pro225Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855169G>T	UniProt,dbSNP
VAR_000937	p.Pro225Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855169G>T	UniProt
rs199475589	p.Pro225Thr	missense variant	-	NC_000012.12:g.102855169G>T	-
RCV000089032	p.Pro225Arg	missense variant	-	NC_000012.12:g.102855168G>C	ClinVar
rs62508615	p.Gln226His	missense variant	-	NC_000012.12:g.102855164C>A	ExAC,gnomAD
rs62508615	p.Gln226His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855164C>G	UniProt,dbSNP
VAR_068003	p.Gln226His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855164C>G	UniProt
rs62508615	p.Gln226His	missense variant	-	NC_000012.12:g.102855164C>G	ExAC,gnomAD
rs62508696	p.Gln226Ter	stop gained	-	NC_000012.12:g.102855166G>A	-
RCV000089033	p.Gln226Ter	nonsense	-	NC_000012.12:g.102855166G>A	ClinVar
RCV000089034	p.Gln226His	missense variant	-	NC_000012.12:g.102855164C>G	ClinVar
RCV000106365	p.Glu228Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855160C>T	ClinVar
rs281865444	p.Glu228Lys	missense variant	-	NC_000012.12:g.102855160C>T	gnomAD
RCV000699420	p.Asp229Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855156dup	ClinVar
RCV000673567	p.Val230Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855153A>G	ClinVar
RCV000089036	p.Val230Gly	missense variant	-	NC_000012.12:g.102855153A>C	ClinVar
RCV000411829	p.Val230Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855154C>T	ClinVar
rs199475673	p.Val230Gly	missense variant	-	NC_000012.12:g.102855153A>C	-
rs199475673	p.Val230Ala	missense variant	-	NC_000012.12:g.102855153A>G	-
rs62516152	p.Val230Ile	missense variant	-	NC_000012.12:g.102855154C>T	UniProt,dbSNP
VAR_000938	p.Val230Ile	missense variant	-	NC_000012.12:g.102855154C>T	UniProt
rs62516152	p.Val230Ile	missense variant	-	NC_000012.12:g.102855154C>T	ESP,ExAC,TOPMed,gnomAD
RCV000089035	p.Val230Ile	missense variant	-	NC_000012.12:g.102855154C>T	ClinVar
rs62508577	p.Ser231Phe	missense variant	-	NC_000012.12:g.102855150G>A	-
RCV000089037	p.Ser231Pro	missense variant	-	NC_000012.12:g.102855151A>G	ClinVar
rs5030845	p.Ser231Pro	missense variant	-	NC_000012.12:g.102855151A>G	-
RCV000089038	p.Ser231Phe	missense variant	-	NC_000012.12:g.102855150G>A	ClinVar
rs62507348	p.Gln232Ter	stop gained	-	NC_000012.12:g.102855148G>A	ESP,ExAC,TOPMed,gnomAD
RCV000758123	p.Gln232Glu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855148G>C	ClinVar
RCV000169464	p.Gln232Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855148G>A	ClinVar
rs1126758	p.Gln232His	missense variant	-	NC_000012.12:g.102855146C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1420897175	p.Phe233Ser	missense variant	-	NC_000012.12:g.102855144A>G	TOPMed
rs62517208	p.Phe233Leu	missense variant	-	NC_000012.12:g.102855143G>T	-
rs62517208	p.Phe233Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855143G>T	UniProt,dbSNP
VAR_000940	p.Phe233Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855143G>T	UniProt
RCV000089041	p.Phe233Leu	missense variant	-	NC_000012.12:g.102855143G>T	ClinVar
RCV000758127	p.Phe233Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855145A>T	ClinVar
RCV000089042	p.Gln235Pro	missense variant	-	NC_000012.12:g.102855138T>G	ClinVar
rs199475656	p.Gln235Pro	missense variant	-	NC_000012.12:g.102855138T>G	-
rs1237792711	p.Gln235Lys	missense variant	-	NC_000012.12:g.102855139G>T	gnomAD
rs1237792711	p.Gln235Ter	stop gained	-	NC_000012.12:g.102855139G>A	gnomAD
NCI-TCGA novel	p.Thr236Ser	missense variant	-	NC_000012.12:g.102855136T>A	NCI-TCGA
rs372723640	p.Cys237Arg	missense variant	-	NC_000012.12:g.102852948A>G	ESP,ExAC,TOPMed,gnomAD
RCV000758131	p.Thr238Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>C	ClinVar
RCV000672442	p.Thr238Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>G	ClinVar
rs199475577	p.Thr238Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>G	UniProt,dbSNP
VAR_000941	p.Thr238Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>G	UniProt
rs199475577	p.Thr238Pro	missense variant	-	NC_000012.12:g.102852945T>G	-
RCV000089051	p.Gly239Val	missense variant	-	NC_000012.12:g.102852941C>A	ClinVar
RCV000089049	p.Gly239Asp	missense variant	-	NC_000012.12:g.102852941C>T	ClinVar
rs62507283	p.Gly239Ala	missense variant	-	NC_000012.12:g.102852941C>G	-
rs62507283	p.Gly239Val	missense variant	-	NC_000012.12:g.102852941C>A	-
RCV000089048	p.Gly239Ser	missense variant	-	NC_000012.12:g.102852942C>T	ClinVar
rs62507283	p.Gly239Asp	missense variant	-	NC_000012.12:g.102852941C>T	-
RCV000089050	p.Gly239Ala	missense variant	-	NC_000012.12:g.102852941C>G	ClinVar
rs62517178	p.Gly239Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852942C>T	UniProt,dbSNP
VAR_000942	p.Gly239Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852942C>T	UniProt
rs62517178	p.Gly239Ser	missense variant	-	NC_000012.12:g.102852942C>T	-
rs62507337	p.Phe240Val	missense variant	-	NC_000012.12:g.102852939A>C	-
rs62508594	p.Phe240Ser	missense variant	-	NC_000012.12:g.102852938A>G	-
RCV000667600	p.Phe240Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852939A>C	ClinVar
RCV000089053	p.Phe240Ser	missense variant	-	NC_000012.12:g.102852938A>G	ClinVar
RCV000169560	p.Arg241Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852935del	ClinVar
RCV000089056	p.Arg241Leu	missense variant	-	NC_000012.12:g.102852935C>A	ClinVar
RCV000454199	p.Arg241Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852935del	ClinVar
RCV000089054	p.Arg241Cys	missense variant	-	NC_000012.12:g.102852936G>A	ClinVar
RCV000153635	p.Arg241Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852936G>A	ClinVar
RCV000089057	p.Arg241Ter	frameshift	-	NC_000012.12:g.102852935del	ClinVar
rs76687508	p.Arg241Cys	missense variant	-	NC_000012.12:g.102852936G>A	ExAC,TOPMed,gnomAD
rs62508730	p.Arg241His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>T	UniProt,dbSNP
VAR_000944	p.Arg241His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>T	UniProt
rs62508730	p.Arg241His	missense variant	-	NC_000012.12:g.102852935C>T	ESP,ExAC,TOPMed,gnomAD
RCV000089055	p.Arg241His	missense variant	-	NC_000012.12:g.102852935C>T	ClinVar
RCV000576386	p.Arg241His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>T	ClinVar
rs62508730	p.Arg241Leu	missense variant	-	NC_000012.12:g.102852935C>A	ESP,ExAC,TOPMed,gnomAD
rs62508730	p.Arg241Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>A	UniProt,dbSNP
VAR_000945	p.Arg241Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>A	UniProt
RCV000411222	p.Leu242Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852933G>A	ClinVar
rs199475578	p.Leu242Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852933G>A	UniProt,dbSNP
VAR_000946	p.Leu242Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852933G>A	UniProt
rs199475578	p.Leu242Phe	missense variant	-	NC_000012.12:g.102852933G>A	-
RCV000624337	p.Arg243Gln	missense variant	Inborn genetic diseases	NC_000012.12:g.102852929C>T	ClinVar
RCV000000622	p.Arg243Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852929C>T	ClinVar
RCV000089059	p.Arg243Gln	missense variant	-	NC_000012.12:g.102852929C>T	ClinVar
rs5030846	p.Arg243Ter	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102852930G>A	ExAC,TOPMed,gnomAD
rs62508588	p.Arg243Gln	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852929C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs62508588	p.Arg243Leu	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852929C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000089060	p.Arg243Leu	missense variant	-	NC_000012.12:g.102852929C>A	ClinVar
RCV000078528	p.Arg243Ter	nonsense	-	NC_000012.12:g.102852930G>A	ClinVar
RCV000000619	p.Arg243Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102852930G>A	ClinVar
rs118203923	p.Pro244Leu	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852926G>A	ExAC,gnomAD
RCV000089061	p.Pro244Leu	missense variant	-	NC_000012.12:g.102852926G>A	ClinVar
RCV000340479	p.Val245Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852924C>G	ClinVar
RCV000632879	p.Val245Glu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852923A>T	ClinVar
RCV000186078	p.Val245Ala	missense variant	-	NC_000012.12:g.102852922_102852923inv	ClinVar
rs62508694	p.Val245Met	missense variant	-	NC_000012.12:g.102852924C>T	ExAC,gnomAD
rs76212747	p.Val245Ala	missense variant	-	NC_000012.12:g.102852923A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000089062	p.Val245Met	missense variant	-	NC_000012.12:g.102852924C>T	ClinVar
RCV000148724	p.Val245Ala	missense variant	Hyperphenylalaninaemia	NC_000012.12:g.102852923A>G	ClinVar
rs76212747	p.Val245Glu	missense variant	-	NC_000012.12:g.102852923A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62508694	p.Val245Leu	missense variant	-	NC_000012.12:g.102852924C>G	ExAC,gnomAD
rs62508694	p.Val245Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852924C>G	UniProt,dbSNP
VAR_000951	p.Val245Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852924C>G	UniProt
rs796052017	p.Val245Ala	missense variant	-	NC_000012.12:g.102852922_102852923inv	-
rs76212747	p.Val245Glu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852923A>T	UniProt,dbSNP
VAR_000950	p.Val245Glu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852923A>T	UniProt
NCI-TCGA novel	p.Val245Leu	missense variant	-	NC_000012.12:g.102852924C>A	NCI-TCGA
RCV000089067	p.Ala246Asp	missense variant	-	NC_000012.12:g.102852920G>T	ClinVar
RCV000089069	p.Ala246Ter	frameshift	-	NC_000012.12:g.102852920del	ClinVar
RCV000543254	p.Ala246Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852920del	ClinVar
RCV000089068	p.Ala246Val	missense variant	-	NC_000012.12:g.102852920G>A	ClinVar
rs199475610	p.Ala246Val	missense variant	-	NC_000012.12:g.102852920G>A	ESP,ExAC,TOPMed,gnomAD
rs199475610	p.Ala246Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852920G>T	UniProt,dbSNP
VAR_000952	p.Ala246Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852920G>T	UniProt
rs199475610	p.Ala246Asp	missense variant	-	NC_000012.12:g.102852920G>T	ESP,ExAC,TOPMed,gnomAD
rs1372655774	p.Ala246Pro	missense variant	-	NC_000012.12:g.102852921C>G	gnomAD
RCV000089073	p.Gly247Val	missense variant	-	NC_000012.12:g.102852917C>A	ClinVar
RCV000089071	p.Gly247Arg	missense variant	-	NC_000012.12:g.102852918C>G	ClinVar
RCV000758103	p.Gly247Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852917C>T	ClinVar
rs62508731	p.Gly247Arg	missense variant	-	NC_000012.12:g.102852918C>G	-
rs62508731	p.Gly247Ser	missense variant	-	NC_000012.12:g.102852918C>T	-
rs199475579	p.Gly247Val	missense variant	-	NC_000012.12:g.102852917C>A	ExAC,gnomAD
rs199475579	p.Gly247Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852917C>A	UniProt,dbSNP
VAR_000953	p.Gly247Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852917C>A	UniProt
rs199475579	p.Gly247Asp	missense variant	-	NC_000012.12:g.102852917C>T	ExAC,gnomAD
RCV000758094	p.Gly247Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852918C>T	ClinVar
RCV000089074	p.Leu248Pro	missense variant	-	NC_000012.12:g.102852914A>G	ClinVar
rs62507340	p.Leu248Arg	missense variant	-	NC_000012.12:g.102852914A>C	-
rs62507340	p.Leu248Pro	missense variant	-	NC_000012.12:g.102852914A>G	-
RCV000089075	p.Leu248Arg	missense variant	-	NC_000012.12:g.102852914A>C	ClinVar
rs62507338	p.Leu249His	missense variant	-	NC_000012.12:g.102852911A>T	-
rs74503222	p.Leu249Phe	missense variant	-	NC_000012.12:g.102852912G>A	ExAC,TOPMed,gnomAD
rs74503222	p.Leu249Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852912G>A	UniProt,dbSNP
VAR_000955	p.Leu249Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852912G>A	UniProt
RCV000089077	p.Leu249His	missense variant	-	NC_000012.12:g.102852911A>T	ClinVar
RCV000410522	p.Leu249Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852912del	ClinVar
RCV000089076	p.Leu249Phe	missense variant	-	NC_000012.12:g.102852912G>A	ClinVar
RCV000153634	p.Leu249Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852912G>A	ClinVar
rs369646949	p.Ser251Phe	missense variant	-	NC_000012.12:g.102852905G>A	ESP,ExAC,TOPMed,gnomAD
rs5030847	p.Arg252Gly	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852903G>C	ESP,ExAC,TOPMed,gnomAD
rs5030847	p.Arg252Trp	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852903G>A	ESP,ExAC,TOPMed,gnomAD
RCV000089079	p.Arg252Trp	missense variant	-	NC_000012.12:g.102852903G>A	ClinVar
RCV000000614	p.Arg252Trp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852903G>A	ClinVar
RCV000179742	p.Arg252Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852902C>T	ClinVar
rs62644503	p.Arg252Gln	missense variant	-	NC_000012.12:g.102852902C>T	gnomAD
RCV000674327	p.Arg252Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852903G>C	ClinVar
RCV000201954	p.Arg252Trp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852903G>A	ClinVar
RCV000089080	p.Arg252Gln	missense variant	-	NC_000012.12:g.102852902C>T	ClinVar
RCV000484615	p.Asp253Asn	missense variant	-	NC_000012.12:g.102852900C>T	ClinVar
rs765533320	p.Asp253Asn	missense variant	-	NC_000012.12:g.102852900C>T	ExAC,gnomAD
RCV000089081	p.Phe254Ile	missense variant	-	NC_000012.12:g.102852897A>T	ClinVar
rs62642909	p.Phe254Ile	missense variant	-	NC_000012.12:g.102852897A>T	-
NCI-TCGA novel	p.Phe254Leu	missense variant	-	NC_000012.12:g.102852895G>T	NCI-TCGA
RCV000089082	p.Leu255Val	missense variant	-	NC_000012.12:g.102852894A>C	ClinVar
rs62642931	p.Leu255Val	missense variant	-	NC_000012.12:g.102852894A>C	-
rs62642931	p.Leu255Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852894A>C	UniProt,dbSNP
VAR_000959	p.Leu255Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852894A>C	UniProt
rs62642930	p.Leu255Ser	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852893A>G	-
rs62642930	p.Leu255Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852893A>G	UniProt,dbSNP
VAR_000960	p.Leu255Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852893A>G	UniProt
RCV000000631	p.Leu255Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852893A>G	ClinVar
rs1420712008	p.Gly256Cys	missense variant	-	NC_000012.12:g.102852891C>A	gnomAD
rs5030848	p.Gly257Cys	missense variant	-	NC_000012.12:g.102852888C>A	-
RCV000089084	p.Gly257Ser	missense variant	-	NC_000012.12:g.102852888C>T	ClinVar
RCV000089085	p.Gly257Cys	missense variant	-	NC_000012.12:g.102852888C>A	ClinVar
rs62642908	p.Gly257Asp	missense variant	-	NC_000012.12:g.102852887C>T	-
rs5030848	p.Gly257Ser	missense variant	-	NC_000012.12:g.102852888C>T	-
rs62642908	p.Gly257Val	missense variant	-	NC_000012.12:g.102852887C>A	-
RCV000089086	p.Gly257Asp	missense variant	-	NC_000012.12:g.102852887C>T	ClinVar
RCV000668413	p.Gly257Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852887C>A	ClinVar
RCV000758119	p.Leu258Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852884A>G	ClinVar
RCV000089089	p.Ala259Val	missense variant	-	NC_000012.12:g.102852881G>A	ClinVar
RCV000411173	p.Ala259Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852882C>T	ClinVar
rs118203921	p.Ala259Val	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852881G>A	ExAC,TOPMed,gnomAD
rs62642932	p.Ala259Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852882C>T	UniProt,dbSNP
VAR_000962	p.Ala259Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852882C>T	UniProt
rs62642932	p.Ala259Thr	missense variant	-	NC_000012.12:g.102852882C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala259Ser	missense variant	-	NC_000012.12:g.102852882C>A	NCI-TCGA
RCV000000612	p.Arg261Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852875C>T	ClinVar
RCV000119826	p.Arg261Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852876G>C	ClinVar
RCV000089090	p.Arg261Ter	nonsense	-	NC_000012.12:g.102852876G>A	ClinVar
rs5030849	p.Arg261Leu	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852875C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs5030850	p.Arg261Gly	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852876G>C	ExAC,TOPMed,gnomAD
rs5030849	p.Arg261Pro	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852875C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs5030849	p.Arg261Gln	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852875C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs5030850	p.Arg261Ter	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102852876G>A	ExAC,TOPMed,gnomAD
RCV000000641	p.Arg261Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102852876G>A	ClinVar
RCV000078530	p.Arg261Gln	missense variant	-	NC_000012.12:g.102852875C>T	ClinVar
RCV000410877	p.Arg261Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852875C>G	ClinVar
RCV000106366	p.Val262Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852872A>C	ClinVar
rs281865445	p.Val262Gly	missense variant	-	NC_000012.12:g.102852872A>C	-
RCV000758091	p.Phe263Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852868G>C	ClinVar
RCV000758097	p.Phe263Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852869A>G	ClinVar
rs62642944	p.Phe263Leu	missense variant	-	NC_000012.12:g.102852868G>C	ExAC,gnomAD
rs62642944	p.Phe263Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852868G>C	UniProt,dbSNP
VAR_000966	p.Phe263Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852868G>C	UniProt
RCV000089093	p.His264Leu	missense variant	-	NC_000012.12:g.102852866T>A	ClinVar
rs749668037	p.His264Tyr	missense variant	-	NC_000012.12:g.102852867G>A	ExAC,gnomAD
rs199475580	p.His264Leu	missense variant	-	NC_000012.12:g.102852866T>A	-
rs199475580	p.His264Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852866T>A	UniProt,dbSNP
VAR_000967	p.His264Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852866T>A	UniProt
RCV000409667	p.His264Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852868del	ClinVar
rs1231529155	p.Cys265Ter	stop gained	-	NC_000012.12:g.102852862G>T	TOPMed,gnomAD
rs62517181	p.Cys265Arg	missense variant	-	NC_000012.12:g.102852864A>G	TOPMed
RCV000810805	p.Cys265Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852863C>T	ClinVar
rs62517181	p.Cys265Gly	missense variant	-	NC_000012.12:g.102852864A>C	TOPMed
rs62517181	p.Cys265Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852864A>C	UniProt,dbSNP
VAR_000968	p.Cys265Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852864A>C	UniProt
rs62507335	p.Cys265Tyr	missense variant	-	NC_000012.12:g.102852863C>T	-
RCV000089094	p.Cys265Gly	missense variant	-	NC_000012.12:g.102852864A>C	ClinVar
rs62508752	p.Thr266Pro	missense variant	-	NC_000012.12:g.102852861T>G	-
rs62508752	p.Thr266Ala	missense variant	-	NC_000012.12:g.102852861T>C	-
rs62508753	p.Thr266Lys	missense variant	-	NC_000012.12:g.102852860G>T	-
RCV000089096	p.Thr266Ala	missense variant	-	NC_000012.12:g.102852861T>C	ClinVar
RCV000089097	p.Thr266Lys	missense variant	-	NC_000012.12:g.102852860G>T	ClinVar
RCV000106367	p.Thr266Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852861T>G	ClinVar
RCV000089098	p.Gln267Glu	missense variant	-	NC_000012.12:g.102852858G>C	ClinVar
RCV000758096	p.Gln267His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852856C>G	ClinVar
rs778154939	p.Gln267Leu	missense variant	-	NC_000012.12:g.102852857T>A	ExAC,gnomAD
rs199475675	p.Gln267His	missense variant	-	NC_000012.12:g.102852856C>A	ExAC,gnomAD
RCV000672289	p.Gln267Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852857T>C	ClinVar
rs199475675	p.Gln267His	missense variant	-	NC_000012.12:g.102852856C>G	ExAC,gnomAD
rs778154939	p.Gln267Arg	missense variant	-	NC_000012.12:g.102852857T>C	ExAC,gnomAD
RCV000210763	p.Gln267Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852857T>A	ClinVar
rs199475676	p.Gln267Glu	missense variant	-	NC_000012.12:g.102852858G>C	-
RCV000758117	p.Tyr268His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852855A>G	ClinVar
rs62507263	p.Tyr268His	missense variant	-	NC_000012.12:g.102852855A>G	gnomAD
RCV000758130	p.Tyr268Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852854T>C	ClinVar
RCV000763291	p.Ile269Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852851A>T	ClinVar
RCV000089102	p.Ile269Asn	missense variant	-	NC_000012.12:g.102852851A>T	ClinVar
rs62508692	p.Ile269Val	missense variant	-	NC_000012.12:g.102852852T>C	ExAC,TOPMed,gnomAD
rs62508692	p.Ile269Leu	missense variant	-	NC_000012.12:g.102852852T>G	ExAC,TOPMed,gnomAD
rs62508692	p.Ile269Leu	missense variant	-	NC_000012.12:g.102852852T>G	UniProt,dbSNP
VAR_000969	p.Ile269Leu	missense variant	-	NC_000012.12:g.102852852T>G	UniProt
RCV000281383	p.Ile269Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852852T>G	ClinVar
rs199475644	p.Ile269Asn	missense variant	-	NC_000012.12:g.102852851A>T	-
RCV000153633	p.Ile269Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852851del	ClinVar
RCV000089101	p.Ile269Leu	missense variant	-	NC_000012.12:g.102852852T>G	ClinVar
RCV000089103	p.Ile269Ter	frameshift	-	NC_000012.12:g.102852851del	ClinVar
RCV000089104	p.Arg270Gly	missense variant	-	NC_000012.12:g.102852849T>C	ClinVar
rs62514950	p.Arg270Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852848C>T	UniProt,dbSNP
VAR_000970	p.Arg270Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852848C>T	UniProt
rs62514950	p.Arg270Lys	missense variant	-	NC_000012.12:g.102852848C>T	ExAC,gnomAD
rs62514951	p.Arg270Ser	missense variant	-	NC_000012.12:g.102852847T>A	-
rs199475690	p.Arg270Gly	missense variant	-	NC_000012.12:g.102852849T>C	-
rs62514951	p.Arg270Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852847T>A	UniProt,dbSNP
VAR_000971	p.Arg270Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852847T>A	UniProt
RCV000089105	p.Arg270Lys	missense variant	-	NC_000012.12:g.102852848C>T	ClinVar
RCV000089106	p.Arg270Ser	missense variant	-	NC_000012.12:g.102852847T>A	ClinVar
RCV000153632	p.Arg270Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852848C>T	ClinVar
NCI-TCGA novel	p.Arg270Thr	missense variant	-	NC_000012.12:g.102852848C>G	NCI-TCGA
RCV000106368	p.His271Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852845T>A	ClinVar
RCV000758116	p.His271Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852846G>A	ClinVar
RCV000758132	p.His271Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852845T>C	ClinVar
rs199475692	p.His271Arg	missense variant	-	NC_000012.12:g.102852845T>C	ExAC,gnomAD
RCV000089107	p.His271Ter	frameshift	-	NC_000012.12:g.102852844_102852848del	ClinVar
rs199475692	p.His271Leu	missense variant	-	NC_000012.12:g.102852845T>A	ExAC,gnomAD
rs62517164	p.His271Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852846G>A	UniProt,dbSNP
VAR_000972	p.His271Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852846G>A	UniProt
rs62517164	p.His271Tyr	missense variant	-	NC_000012.12:g.102852846G>A	ESP,ExAC,TOPMed
RCV000758104	p.His271Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852844A>C	ClinVar
rs62514952	p.Gly272Ter	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102852843C>A	ExAC,TOPMed,gnomAD
RCV000089110	p.Gly272Ter	nonsense	-	NC_000012.12:g.102852843C>A	ClinVar
RCV000000627	p.Gly272Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102852843C>A	ClinVar
NCI-TCGA novel	p.Gly272Arg	missense variant	-	NC_000012.12:g.102852843C>T	NCI-TCGA
RCV000000629	p.Ser273Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852839G>A	ClinVar
rs62514953	p.Ser273Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852839G>A	UniProt,dbSNP
VAR_000973	p.Ser273Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852839G>A	UniProt
rs62514953	p.Ser273Phe	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852839G>A	ExAC,TOPMed,gnomAD
RCV000758093	p.Ser273Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852840A>G	ClinVar
COSM3398262	p.Lys274Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102852836T>A	NCI-TCGA Cosmic
RCV000089113	p.Lys274Ter	frameshift	-	NC_000012.12:g.102852826_102852836del	ClinVar
rs1160691269	p.Lys274Asn	missense variant	-	NC_000012.12:g.102852835C>G	gnomAD
rs142934616	p.Lys274Glu	missense variant	-	NC_000012.12:g.102852837T>C	UniProt,dbSNP
VAR_011573	p.Lys274Glu	missense variant	-	NC_000012.12:g.102852837T>C	UniProt
rs142934616	p.Lys274Glu	missense variant	-	NC_000012.12:g.102852837T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000089112	p.Lys274Glu	missense variant	-	NC_000012.12:g.102852837T>C	ClinVar
NCI-TCGA novel	p.Lys274Thr	missense variant	-	NC_000012.12:g.102852836T>G	NCI-TCGA
rs62508691	p.Pro275Ser	missense variant	-	NC_000012.12:g.102852834G>A	ESP
rs62508715	p.Pro275Arg	missense variant	-	NC_000012.12:g.102852833G>C	-
RCV000670910	p.Pro275Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852833G>A	ClinVar
RCV000089115	p.Pro275Arg	missense variant	-	NC_000012.12:g.102852833G>C	ClinVar
RCV000672603	p.Pro275Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852834G>A	ClinVar
rs62508715	p.Pro275Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852833G>A	UniProt,dbSNP
VAR_068004	p.Pro275Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852833G>A	UniProt
rs62508715	p.Pro275Leu	missense variant	-	NC_000012.12:g.102852833G>A	-
RCV000664652	p.Met276Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852831T>C	ClinVar
RCV000666601	p.Met276Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852829C>T	ClinVar
rs62514954	p.Met276Ile	missense variant	-	NC_000012.12:g.102852829C>T	TOPMed,gnomAD
rs62514954	p.Met276Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852829C>A	UniProt,dbSNP
VAR_000974	p.Met276Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852829C>A	UniProt
rs62514954	p.Met276Ile	missense variant	-	NC_000012.12:g.102852829C>A	TOPMed,gnomAD
rs62516149	p.Met276Val	missense variant	-	NC_000012.12:g.102852831T>C	ESP,ExAC,TOPMed,gnomAD
rs62508722	p.Met276Lys	missense variant	-	NC_000012.12:g.102852830A>T	ExAC,TOPMed,gnomAD
rs62516149	p.Met276Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852831T>C	UniProt,dbSNP
VAR_000975	p.Met276Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852831T>C	UniProt
rs62508722	p.Met276Thr	missense variant	-	NC_000012.12:g.102852830A>G	ExAC,TOPMed,gnomAD
rs62516149	p.Met276Leu	missense variant	-	NC_000012.12:g.102852831T>A	ESP,ExAC,TOPMed,gnomAD
rs62508722	p.Met276Arg	missense variant	-	NC_000012.12:g.102852830A>C	ExAC,TOPMed,gnomAD
RCV000758121	p.Met276Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852830A>T	ClinVar
RCV000089119	p.Met276Arg	missense variant	-	NC_000012.12:g.102852830A>C	ClinVar
RCV000089120	p.Met276Ile	missense variant	-	NC_000012.12:g.102852829C>A	ClinVar
RCV000078531	p.Tyr277Asp	missense variant	-	NC_000012.12:g.102852828A>C	ClinVar
RCV000000634	p.Tyr277Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852828A>C	ClinVar
rs78655458	p.Tyr277Asp	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852828A>C	ExAC,TOPMed,gnomAD
rs62516155	p.Tyr277Cys	missense variant	-	NC_000012.12:g.102852827T>C	ExAC,gnomAD
rs62516155	p.Tyr277Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852827T>C	UniProt,dbSNP
VAR_000976	p.Tyr277Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852827T>C	UniProt
RCV000411640	p.Tyr277Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852827T>C	ClinVar
RCV000089122	p.Thr278Ala	missense variant	-	NC_000012.12:g.102852825T>C	ClinVar
rs62507262	p.Thr278Asn	missense variant	-	NC_000012.12:g.102852824G>T	-
rs62507262	p.Thr278Ile	missense variant	-	NC_000012.12:g.102852824G>A	-
rs62516156	p.Thr278Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852825T>C	UniProt,dbSNP
VAR_000978	p.Thr278Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852825T>C	UniProt
rs62516156	p.Thr278Ala	missense variant	-	NC_000012.12:g.102852825T>C	-
RCV000089123	p.Thr278Asn	missense variant	-	NC_000012.12:g.102852824G>T	ClinVar
RCV000672785	p.Thr278Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852824G>A	ClinVar
RCV000190377	p.Pro279Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852821G>A	ClinVar
rs796064503	p.Pro279Leu	missense variant	-	NC_000012.12:g.102852821G>A	-
rs1555204441	p.Pro279Ala	missense variant	-	NC_000012.12:g.102852822G>C	-
RCV000551613	p.Pro279Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852822G>C	ClinVar
RCV000089128	p.Glu280Ter	frameshift	-	NC_000012.12:g.102852817_102852818insA	ClinVar
RCV000106369	p.Glu280Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852824del	ClinVar
RCV000089125	p.Glu280Gln	missense variant	-	NC_000012.12:g.102852819C>G	ClinVar
RCV000000610	p.Glu280Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852819C>T	ClinVar
rs62508698	p.Glu280Lys	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852819C>T	ESP,ExAC,TOPMed,gnomAD
rs62508698	p.Glu280Gln	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852819C>G	ESP,ExAC,TOPMed,gnomAD
rs62508698	p.Glu280Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852819C>T	UniProt,dbSNP
VAR_000980	p.Glu280Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852819C>T	UniProt
rs62508734	p.Glu280Gly	missense variant	-	NC_000012.12:g.102852818T>C	-
RCV000632877	p.Glu280Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852818T>C	ClinVar
RCV000078532	p.Glu280Lys	missense variant	-	NC_000012.12:g.102852819C>T	ClinVar
RCV000106370	p.Pro281Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852816G>C	ClinVar
RCV000721177	p.Pro281Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852816G>A	ClinVar
RCV000000620	p.Pro281Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852815G>A	ClinVar
rs5030851	p.Pro281Leu	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852815G>A	ESP,ExAC,TOPMed,gnomAD
rs199475654	p.Pro281Ser	missense variant	-	NC_000012.12:g.102852816G>A	ExAC,gnomAD
rs199475654	p.Pro281Ala	missense variant	-	NC_000012.12:g.102852816G>C	ExAC,gnomAD
RCV000089136	p.Asp282Gly	missense variant	-	NC_000012.12:g.102851754T>C	ClinVar
RCV000411380	p.Asp282Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851755C>T	ClinVar
rs199475660	p.Asp282Gly	missense variant	-	NC_000012.12:g.102851754T>C	-
rs199475582	p.Asp282Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851755C>T	UniProt,dbSNP
VAR_000982	p.Asp282Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851755C>T	UniProt
rs199475582	p.Asp282Asn	missense variant	-	NC_000012.12:g.102851755C>T	ExAC,gnomAD
RCV000169005	p.Ile283Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851752T>A	ClinVar
rs62517168	p.Ile283Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851752T>A	UniProt,dbSNP
VAR_000983	p.Ile283Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851752T>A	UniProt
rs62517168	p.Ile283Phe	missense variant	-	NC_000012.12:g.102851752T>A	ExAC,gnomAD
rs62508693	p.Ile283Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851751A>T	UniProt,dbSNP
VAR_000984	p.Ile283Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851751A>T	UniProt
rs62508693	p.Ile283Asn	missense variant	-	NC_000012.12:g.102851751A>T	TOPMed
RCV000758133	p.Ile283Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851751A>T	ClinVar
RCV000089139	p.Cys284Arg	missense variant	-	NC_000012.12:g.102851749A>G	ClinVar
rs199475682	p.Cys284Arg	missense variant	-	NC_000012.12:g.102851749A>G	-
RCV000089140	p.His285Tyr	missense variant	-	NC_000012.12:g.102851746G>A	ClinVar
rs199475636	p.His285Tyr	missense variant	-	NC_000012.12:g.102851746G>A	-
rs62508739	p.Glu286Lys	missense variant	-	NC_000012.12:g.102851743C>T	ExAC,gnomAD
rs62508739	p.Glu286Ter	stop gained	-	NC_000012.12:g.102851743C>A	ExAC,gnomAD
RCV000758134	p.Glu286Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851743C>T	ClinVar
RCV000758129	p.Leu287Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851740G>C	ClinVar
rs781096854	p.Leu287Met	missense variant	-	NC_000012.12:g.102851740G>T	ExAC,gnomAD
rs781096854	p.Leu287Val	missense variant	-	NC_000012.12:g.102851740G>C	ExAC,gnomAD
rs62507327	p.Leu288Phe	missense variant	-	NC_000012.12:g.102851735C>G	-
RCV000758112	p.Leu288Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851735C>G	ClinVar
RCV000089143	p.Gly289Arg	missense variant	-	NC_000012.12:g.102851734C>G	ClinVar
RCV000548849	p.Gly289Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851734C>T	ClinVar
rs199475693	p.Gly289Arg	missense variant	-	NC_000012.12:g.102851734C>T	TOPMed
rs199475693	p.Gly289Arg	missense variant	-	NC_000012.12:g.102851734C>G	TOPMed
RCV000674910	p.His290Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851729A>C	ClinVar
rs1486763160	p.His290Tyr	missense variant	-	NC_000012.12:g.102851731G>A	gnomAD
rs1486763160	p.His290Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851731G>A	UniProt,dbSNP
VAR_067758	p.His290Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851731G>A	UniProt
rs62642919	p.His290Leu	missense variant	-	NC_000012.12:g.102851730T>A	-
rs751203209	p.His290Gln	missense variant	-	NC_000012.12:g.102851729A>C	ExAC,TOPMed,gnomAD
RCV000106371	p.His290Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851730T>A	ClinVar
RCV000089144	p.His290Arg	missense variant	-	NC_000012.12:g.102851730T>C	ClinVar
rs1245308538	p.Pro292Ser	missense variant	-	NC_000012.12:g.102851725G>A	gnomAD
rs1200240274	p.Pro292Leu	missense variant	-	NC_000012.12:g.102851724G>A	gnomAD
RCV000768445	p.Pro292Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851724G>A	ClinVar
rs1188242574	p.Leu293Phe	missense variant	-	NC_000012.12:g.102851720C>G	TOPMed
RCV000700907	p.Phe294Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851719A>T	ClinVar
rs62642910	p.Ser295Ter	stop gained	-	NC_000012.12:g.102851715G>C	-
RCV000089145	p.Ser295Ter	nonsense	-	NC_000012.12:g.102851715G>C	ClinVar
RCV000106372	p.Asp296Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851712T>C	ClinVar
rs765934604	p.Asp296Asn	missense variant	-	NC_000012.12:g.102851713C>T	ExAC,gnomAD
rs281865446	p.Asp296Gly	missense variant	-	NC_000012.12:g.102851712T>C	-
rs62642945	p.Arg297Cys	missense variant	-	NC_000012.12:g.102851710G>A	ExAC,gnomAD
rs62642945	p.Arg297Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851710G>A	UniProt,dbSNP
VAR_000985	p.Arg297Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851710G>A	UniProt
rs62642939	p.Arg297His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851709C>T	UniProt,dbSNP
VAR_000986	p.Arg297His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851709C>T	UniProt
rs62642939	p.Arg297His	missense variant	-	NC_000012.12:g.102851709C>T	ExAC,TOPMed,gnomAD
RCV000078535	p.Arg297His	missense variant	-	NC_000012.12:g.102851709C>T	ClinVar
RCV000150085	p.Arg297His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851709C>T	ClinVar
RCV000588535	p.Arg297His	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102851709C>T	ClinVar
RCV000089146	p.Arg297Cys	missense variant	-	NC_000012.12:g.102851710G>A	ClinVar
NCI-TCGA novel	p.Arg297Ser	missense variant	-	NC_000012.12:g.102851710G>T	NCI-TCGA
RCV000190378	p.Phe299Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851704A>G	ClinVar
COSM6135541	p.Phe299Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102851703A>T	NCI-TCGA Cosmic
rs62642933	p.Phe299Cys	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102851703A>C	ESP,ExAC,TOPMed,gnomAD
rs62642933	p.Phe299Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851703A>C	UniProt,dbSNP
VAR_000987	p.Phe299Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851703A>C	UniProt
rs796064504	p.Phe299Leu	missense variant	-	NC_000012.12:g.102851704A>G	-
RCV000000644	p.Phe299Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851703A>C	ClinVar
RCV000590551	p.Ala300Ser	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102851701C>A	ClinVar
RCV000669088	p.Ala300Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851700G>A	ClinVar
RCV000078536	p.Ala300Ser	missense variant	-	NC_000012.12:g.102851701C>A	ClinVar
rs5030853	p.Ala300Ser	missense variant	-	NC_000012.12:g.102851701C>A	ESP,ExAC,TOPMed,gnomAD
rs199475609	p.Ala300Val	missense variant	-	NC_000012.12:g.102851700G>A	-
rs199475609	p.Ala300Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851700G>A	UniProt,dbSNP
VAR_000989	p.Ala300Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851700G>A	UniProt
RCV000150084	p.Ala300Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851701C>A	ClinVar
RCV000436688	p.Gln301Lys	missense variant	-	NC_000012.12:g.102851698G>T	ClinVar
rs1057520732	p.Gln301Lys	missense variant	-	NC_000012.12:g.102851698G>T	-
RCV000089152	p.Ser303Ala	missense variant	-	NC_000012.12:g.102851692A>C	ClinVar
RCV000089151	p.Ser303Pro	missense variant	-	NC_000012.12:g.102851692A>G	ClinVar
COSM3455200	p.Ser303Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102851691G>A	NCI-TCGA Cosmic
RCV000089150	p.Ser303Ter	frameshift	-	NC_000012.12:g.102851695del	ClinVar
rs199475608	p.Ser303Pro	missense variant	-	NC_000012.12:g.102851692A>G	-
rs199475608	p.Ser303Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851692A>G	UniProt,dbSNP
VAR_000990	p.Ser303Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851692A>G	UniProt
rs199475608	p.Ser303Ala	missense variant	-	NC_000012.12:g.102851692A>C	-
RCV000089153	p.Gln304Arg	missense variant	-	NC_000012.12:g.102851688T>C	ClinVar
rs199475592	p.Gln304Arg	missense variant	-	NC_000012.12:g.102851688T>C	-
rs199475592	p.Gln304Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851688T>C	UniProt,dbSNP
VAR_000991	p.Gln304Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851688T>C	UniProt
rs1555204295	p.Gln304Ter	stop gained	-	NC_000012.12:g.102851689G>A	-
RCV000674358	p.Gln304Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102851689G>A	ClinVar
COSM1706141	p.Glu305Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102846951C>T	NCI-TCGA Cosmic
RCV000106377	p.Ile306Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102846950del	ClinVar
rs62642934	p.Ile306Val	missense variant	-	NC_000012.12:g.102846948T>C	ExAC,TOPMed,gnomAD
rs62642934	p.Ile306Val	missense variant	-	NC_000012.12:g.102846948T>C	UniProt,dbSNP
VAR_000992	p.Ile306Val	missense variant	-	NC_000012.12:g.102846948T>C	UniProt
RCV000089157	p.Ile306Val	missense variant	-	NC_000012.12:g.102846948T>C	ClinVar
rs62642095	p.Leu308Phe	missense variant	-	NC_000012.12:g.102846942G>A	-
rs62642095	p.Leu308Val	missense variant	-	NC_000012.12:g.102846942G>C	-
RCV000089159	p.Leu308Phe	missense variant	-	NC_000012.12:g.102846942G>A	ClinVar
RCV000089158	p.Leu308Val	missense variant	-	NC_000012.12:g.102846942G>C	ClinVar
RCV000150082	p.Ala309Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>A	ClinVar
rs62642935	p.Ala309Asp	missense variant	-	NC_000012.12:g.102846938G>T	ESP,ExAC,TOPMed,gnomAD
rs62642935	p.Ala309Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>T	UniProt,dbSNP
VAR_000993	p.Ala309Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>T	UniProt
rs62642935	p.Ala309Val	missense variant	-	NC_000012.12:g.102846938G>A	ESP,ExAC,TOPMed,gnomAD
rs62642935	p.Ala309Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>A	UniProt,dbSNP
VAR_000994	p.Ala309Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>A	UniProt
rs1205657950	p.Ala309Ser	missense variant	-	NC_000012.12:g.102846939C>A	TOPMed
RCV000078538	p.Ala309Val	missense variant	-	NC_000012.12:g.102846938G>A	ClinVar
RCV000668228	p.Ala309Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>T	ClinVar
RCV000089161	p.Ser310Tyr	missense variant	-	NC_000012.12:g.102846935G>T	ClinVar
RCV000552302	p.Ser310Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846935G>A	ClinVar
RCV000089163	p.Ser310Ter	frameshift	-	NC_000012.12:g.102846925_102846935del	ClinVar
rs62642913	p.Ser310Tyr	missense variant	-	NC_000012.12:g.102846935G>T	TOPMed
rs62642913	p.Ser310Tyr	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846935G>T	UniProt,dbSNP
VAR_068005	p.Ser310Tyr	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846935G>T	UniProt
rs62642913	p.Ser310Cys	missense variant	-	NC_000012.12:g.102846935G>C	TOPMed
rs62642913	p.Ser310Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846935G>A	UniProt,dbSNP
VAR_000995	p.Ser310Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846935G>A	UniProt
rs62642913	p.Ser310Phe	missense variant	-	NC_000012.12:g.102846935G>A	TOPMed
RCV000106378	p.Leu311Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102846932_102846933AG[2]	ClinVar
rs62642936	p.Leu311Pro	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102846932A>G	ExAC,gnomAD
rs62642936	p.Leu311Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846932A>G	UniProt,dbSNP
VAR_000996	p.Leu311Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846932A>G	UniProt
RCV000089164	p.Leu311Pro	missense variant	-	NC_000012.12:g.102846932A>G	ClinVar
RCV000515773	p.Gly312Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846930C>A	ClinVar
rs62642915	p.Gly312Val	missense variant	-	NC_000012.12:g.102846929C>A	gnomAD
RCV000089165	p.Gly312Asp	missense variant	-	NC_000012.12:g.102846929C>T	ClinVar
RCV000758102	p.Gly312Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846930C>G	ClinVar
rs763115697	p.Gly312Ser	missense variant	-	NC_000012.12:g.102846930C>T	ExAC,gnomAD
rs763115697	p.Gly312Cys	missense variant	-	NC_000012.12:g.102846930C>A	ExAC,gnomAD
rs62642915	p.Gly312Asp	missense variant	-	NC_000012.12:g.102846929C>T	gnomAD
RCV000089167	p.Ala313Val	missense variant	-	NC_000012.12:g.102846926G>A	ClinVar
RCV000669990	p.Ala313Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846927C>T	ClinVar
rs62642914	p.Ala313Val	missense variant	-	NC_000012.12:g.102846926G>A	TOPMed
rs62642912	p.Ala313Ser	missense variant	-	NC_000012.12:g.102846927C>A	1000Genomes,ExAC,gnomAD
rs62642912	p.Ala313Thr	missense variant	-	NC_000012.12:g.102846927C>T	1000Genomes,ExAC,gnomAD
RCV000672630	p.Pro314Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846924G>T	ClinVar
RCV000089171	p.Pro314His	missense variant	-	NC_000012.12:g.102846923G>T	ClinVar
RCV000758098	p.Pro314Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846924G>A	ClinVar
rs62642940	p.Pro314His	missense variant	-	NC_000012.12:g.102846923G>T	TOPMed
rs199475650	p.Pro314Thr	missense variant	-	NC_000012.12:g.102846924G>T	gnomAD
rs62642940	p.Pro314His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846923G>T	UniProt,dbSNP
VAR_000997	p.Pro314His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846923G>T	UniProt
rs199475650	p.Pro314Ser	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846924G>A	UniProt,dbSNP
VAR_068006	p.Pro314Ser	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846924G>A	UniProt
rs199475650	p.Pro314Ser	missense variant	-	NC_000012.12:g.102846924G>A	gnomAD
RCV000089170	p.Pro314Ter	frameshift	-	NC_000012.12:g.102846924del	ClinVar
rs1180470263	p.Asp315Glu	missense variant	-	NC_000012.12:g.102846919A>C	TOPMed
rs62642917	p.Asp315Tyr	missense variant	-	NC_000012.12:g.102846921C>A	gnomAD
RCV000089172	p.Asp315Tyr	missense variant	-	NC_000012.12:g.102846921C>A	ClinVar
COSM3710538	p.Glu316Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102846918C>T	NCI-TCGA Cosmic
RCV000089173	p.Ile318Thr	missense variant	-	NC_000012.12:g.102846911A>G	ClinVar
rs62642918	p.Ile318Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846911A>G	UniProt,dbSNP
VAR_011574	p.Ile318Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846911A>G	UniProt
rs62642918	p.Ile318Thr	missense variant	-	NC_000012.12:g.102846911A>G	gnomAD
RCV000078539	p.Glu319Ter	nonsense	-	NC_000012.12:g.102846909C>A	ClinVar
rs398123294	p.Glu319Ter	stop gained	-	NC_000012.12:g.102846909C>A	-
rs1387415225	p.Glu319Asp	missense variant	-	NC_000012.12:g.102846907T>G	TOPMed,gnomAD
RCV000666332	p.Lys320Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846904C>G	ClinVar
rs199475615	p.Lys320Asn	missense variant	-	NC_000012.12:g.102846904C>G	ExAC
NCI-TCGA novel	p.Leu321Ile	missense variant	-	NC_000012.12:g.102846903G>T	NCI-TCGA
rs62514958	p.Ala322Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>C	UniProt,dbSNP
VAR_000998	p.Ala322Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>C	UniProt
rs62514958	p.Ala322Gly	missense variant	-	NC_000012.12:g.102846899G>C	ExAC,TOPMed,gnomAD
rs62514957	p.Ala322Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846900C>T	UniProt,dbSNP
VAR_000999	p.Ala322Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846900C>T	UniProt
rs62514957	p.Ala322Thr	missense variant	-	NC_000012.12:g.102846900C>T	ExAC,TOPMed,gnomAD
rs62514958	p.Ala322Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>A	UniProt,dbSNP
VAR_067759	p.Ala322Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>A	UniProt
rs62514958	p.Ala322Val	missense variant	-	NC_000012.12:g.102846899G>A	ExAC,TOPMed,gnomAD
RCV000675108	p.Ala322Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>C	ClinVar
RCV000797233	p.Ala322Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846900C>T	ClinVar
COSM6071189	p.Thr323Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102846896G>T	NCI-TCGA Cosmic
rs1221031352	p.Ile324Val	missense variant	-	NC_000012.12:g.102844431T>C	TOPMed
rs62508573	p.Tyr325Ter	stop gained	-	NC_000012.12:g.102844426G>C	gnomAD
RCV000150081	p.Tyr325Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844427T>C	ClinVar
rs62508578	p.Tyr325Cys	missense variant	-	NC_000012.12:g.102844427T>C	gnomAD
RCV000410321	p.Tyr325Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102844426G>C	ClinVar
rs62514959	p.Trp326Ter	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102844424C>T	gnomAD
rs1555203761	p.Trp326Ter	stop gained	-	NC_000012.12:g.102844423C>T	-
RCV000089188	p.Trp326Ter	nonsense	-	NC_000012.12:g.102844424C>T	ClinVar
RCV000506068	p.Trp326Ter	nonsense	-	NC_000012.12:g.102844423C>T	ClinVar
RCV000089189	p.Phe327Leu	missense variant	-	NC_000012.12:g.102844420A>C	ClinVar
rs199475642	p.Phe327Leu	missense variant	-	NC_000012.12:g.102844420A>C	-
rs535752872	p.Phe327Tyr	missense variant	-	NC_000012.12:g.102844421A>T	1000Genomes,ExAC,gnomAD
RCV000721175	p.Thr328Ile	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844418G>A	ClinVar
RCV000089190	p.Thr328Ala	missense variant	-	NC_000012.12:g.102844419T>C	ClinVar
RCV000350174	p.Thr328Ile	missense variant	-	NC_000012.12:g.102844418G>A	ClinVar
rs886042096	p.Thr328Ile	missense variant	-	NC_000012.12:g.102844418G>A	-
rs199475616	p.Thr328Ala	missense variant	-	NC_000012.12:g.102844419T>C	ExAC,gnomAD
COSM6071190	p.Val329Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102844416C>A	NCI-TCGA Cosmic
rs989654400	p.Val329Met	missense variant	-	NC_000012.12:g.102844416C>T	TOPMed
rs748816402	p.Val329Ala	missense variant	-	NC_000012.12:g.102844415A>G	ExAC,gnomAD
rs1356332985	p.Glu330Lys	missense variant	-	NC_000012.12:g.102844413C>T	gnomAD
rs62508580	p.Glu330Asp	missense variant	-	NC_000012.12:g.102844411C>G	-
RCV000089191	p.Glu330Asp	missense variant	-	NC_000012.12:g.102844411C>G	ClinVar
NCI-TCGA novel	p.Glu330Asp	missense variant	-	NC_000012.12:g.102844411C>A	NCI-TCGA
RCV000410352	p.Phe331Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844409A>G	ClinVar
RCV000089193	p.Phe331Cys	missense variant	-	NC_000012.12:g.102844409A>C	ClinVar
rs199475614	p.Phe331Cys	missense variant	-	NC_000012.12:g.102844409A>C	gnomAD
rs62517179	p.Phe331Leu	missense variant	-	NC_000012.12:g.102844410A>G	-
rs62517179	p.Phe331Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844410A>G	UniProt,dbSNP
VAR_001000	p.Phe331Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844410A>G	UniProt
rs199475614	p.Phe331Ser	missense variant	-	NC_000012.12:g.102844409A>G	gnomAD
RCV000089192	p.Phe331Leu	missense variant	-	NC_000012.12:g.102844410A>G	ClinVar
rs1187270724	p.Gly332Arg	missense variant	-	NC_000012.12:g.102844407C>T	gnomAD
rs62508589	p.Gly332Glu	missense variant	-	NC_000012.12:g.102844406C>T	-
RCV000089194	p.Gly332Glu	missense variant	-	NC_000012.12:g.102844406C>T	ClinVar
NCI-TCGA novel	p.Gly332Val	missense variant	-	NC_000012.12:g.102844406C>A	NCI-TCGA
rs62516060	p.Leu333Phe	missense variant	-	NC_000012.12:g.102844404G>A	-
rs62516060	p.Leu333Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844404G>A	UniProt,dbSNP
VAR_001001	p.Leu333Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844404G>A	UniProt
RCV000089195	p.Leu333Phe	missense variant	-	NC_000012.12:g.102844404G>A	ClinVar
rs1344368175	p.Leu333Pro	missense variant	-	NC_000012.12:g.102844403A>G	TOPMed
RCV000088695	p.Cys334Ser	missense variant	-	NC_000012.12:g.102844400C>G	ClinVar
rs140243918	p.Cys334Ter	stop gained	-	NC_000012.12:g.102844399G>T	ESP,ExAC,TOPMed,gnomAD
rs62517174	p.Cys334Ser	missense variant	-	NC_000012.12:g.102844400C>G	-
rs62517174	p.Cys334Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844400C>G	UniProt,dbSNP
VAR_001002	p.Cys334Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844400C>G	UniProt
RCV000106338	p.Lys335Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844397T>G	ClinVar
rs281865434	p.Lys335Thr	missense variant	-	NC_000012.12:g.102844397T>G	-
RCV000295704	p.Lys335Glu	missense variant	-	NC_000012.12:g.102844398T>C	ClinVar
rs886042068	p.Lys335Glu	missense variant	-	NC_000012.12:g.102844398T>C	-
rs62516061	p.Gln336Glu	missense variant	-	NC_000012.12:g.102844395G>C	1000Genomes,ExAC,gnomAD
rs62508735	p.Gln336Arg	missense variant	-	NC_000012.12:g.102844394T>C	-
rs62516061	p.Gln336Ter	stop gained	-	NC_000012.12:g.102844395G>A	1000Genomes,ExAC,gnomAD
RCV000088697	p.Gln336Arg	missense variant	-	NC_000012.12:g.102844394T>C	ClinVar
RCV000088696	p.Gln336Ter	nonsense	-	NC_000012.12:g.102844395G>A	ClinVar
RCV000088698	p.Gly337Val	missense variant	-	NC_000012.12:g.102844391C>A	ClinVar
rs62517206	p.Gly337Glu	missense variant	-	NC_000012.12:g.102844391C>T	ExAC,TOPMed,gnomAD
rs62517206	p.Gly337Val	missense variant	-	NC_000012.12:g.102844391C>A	ExAC,TOPMed,gnomAD
rs62517206	p.Gly337Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844391C>A	UniProt,dbSNP
VAR_001003	p.Gly337Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844391C>A	UniProt
rs1169310686	p.Asp338Ala	missense variant	-	NC_000012.12:g.102844388T>G	gnomAD
RCV000088699	p.Asp338Tyr	missense variant	-	NC_000012.12:g.102844389C>A	ClinVar
rs62516150	p.Asp338Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844389C>A	UniProt,dbSNP
VAR_001004	p.Asp338Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844389C>A	UniProt
rs62516150	p.Asp338Tyr	missense variant	-	NC_000012.12:g.102844389C>A	ExAC,gnomAD
RCV000088700	p.Ile340Thr	missense variant	-	NC_000012.12:g.102844382A>G	ClinVar
rs1310594352	p.Ile340Met	missense variant	-	NC_000012.12:g.102844381T>C	gnomAD
rs62508720	p.Ile340Thr	missense variant	-	NC_000012.12:g.102844382A>G	-
rs1209521395	p.Ile340Val	missense variant	-	NC_000012.12:g.102844383T>C	gnomAD
rs62517200	p.Lys341Ter	stop gained	-	NC_000012.12:g.102844380T>A	-
RCV000088703	p.Lys341Arg	missense variant	-	NC_000012.12:g.102844379T>C	ClinVar
rs62516153	p.Lys341Arg	missense variant	-	NC_000012.12:g.102844379T>C	-
rs62516153	p.Lys341Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>C	UniProt,dbSNP
VAR_001005	p.Lys341Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>C	UniProt
RCV000088702	p.Lys341Thr	missense variant	-	NC_000012.12:g.102844379T>G	ClinVar
RCV000088701	p.Lys341Ter	nonsense	-	NC_000012.12:g.102844380T>A	ClinVar
rs62516153	p.Lys341Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>G	UniProt,dbSNP
VAR_001006	p.Lys341Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>G	UniProt
rs62516153	p.Lys341Thr	missense variant	-	NC_000012.12:g.102844379T>G	-
RCV000412182	p.Ala342Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102844378del	ClinVar
RCV000190375	p.Ala342Glu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844376G>T	ClinVar
rs796064501	p.Ala342Glu	missense variant	-	NC_000012.12:g.102844376G>T	-
rs62507282	p.Ala342Thr	missense variant	-	NC_000012.12:g.102844377C>T	-
rs62507282	p.Ala342Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844377C>T	UniProt,dbSNP
VAR_001007	p.Ala342Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844377C>T	UniProt
RCV000088704	p.Ala342Thr	missense variant	-	NC_000012.12:g.102844377C>T	ClinVar
rs62507282	p.Ala342Pro	missense variant	-	NC_000012.12:g.102844377C>G	-
RCV000088705	p.Ala342Pro	missense variant	-	NC_000012.12:g.102844377C>G	ClinVar
RCV000088706	p.Ala342Ter	frameshift	-	NC_000012.12:g.102844378del	ClinVar
RCV000088707	p.Tyr343Asp	missense variant	-	NC_000012.12:g.102844374A>C	ClinVar
rs62508651	p.Tyr343Asp	missense variant	-	NC_000012.12:g.102844374A>C	-
rs62507265	p.Tyr343Cys	missense variant	-	NC_000012.12:g.102844373T>C	TOPMed
rs62507265	p.Tyr343Phe	missense variant	-	NC_000012.12:g.102844373T>A	TOPMed
RCV000088708	p.Tyr343Cys	missense variant	-	NC_000012.12:g.102844373T>C	ClinVar
RCV000088709	p.Tyr343Phe	missense variant	-	NC_000012.12:g.102844373T>A	ClinVar
RCV000088710	p.Gly344Ser	missense variant	-	NC_000012.12:g.102844371C>T	ClinVar
RCV000088712	p.Gly344Asp	missense variant	-	NC_000012.12:g.102844370C>T	ClinVar
RCV000088711	p.Gly344Arg	missense variant	-	NC_000012.12:g.102844371C>G	ClinVar
rs62508679	p.Gly344Ser	missense variant	-	NC_000012.12:g.102844371C>T	-
rs62508582	p.Gly344Asp	missense variant	-	NC_000012.12:g.102844370C>T	-
rs62508679	p.Gly344Arg	missense variant	-	NC_000012.12:g.102844371C>G	-
rs62508679	p.Gly344Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844371C>G	UniProt,dbSNP
VAR_009247	p.Gly344Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844371C>G	UniProt
RCV000674226	p.Gly344Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844370C>A	ClinVar
rs62516062	p.Ala345Thr	missense variant	-	NC_000012.12:g.102844368C>T	ExAC,TOPMed,gnomAD
rs62516062	p.Ala345Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>T	UniProt,dbSNP
VAR_001010	p.Ala345Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>T	UniProt
rs62516062	p.Ala345Ser	missense variant	-	NC_000012.12:g.102844368C>A	ExAC,TOPMed,gnomAD
RCV000586982	p.Ala345Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>A	ClinVar
rs62516062	p.Ala345Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>A	UniProt,dbSNP
VAR_001009	p.Ala345Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>A	UniProt
RCV000490440	p.Ala345Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>T	ClinVar
RCV000553622	p.Gly346Glu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844364C>T	ClinVar
rs62508688	p.Gly346Arg	missense variant	-	NC_000012.12:g.102844365C>G	-
rs1555203737	p.Gly346Glu	missense variant	-	NC_000012.12:g.102844364C>T	-
RCV000088717	p.Gly346Arg	missense variant	-	NC_000012.12:g.102844365C>G	ClinVar
rs62508688	p.Gly346Arg	missense variant	-	NC_000012.12:g.102844365C>T	-
RCV000088716	p.Gly346Arg	missense variant	-	NC_000012.12:g.102844365C>T	ClinVar
rs62516154	p.Leu347Phe	missense variant	-	NC_000012.12:g.102844362G>A	-
rs62516154	p.Leu347Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844362G>A	UniProt,dbSNP
VAR_001011	p.Leu347Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844362G>A	UniProt
RCV000780556	p.Leu347Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102844365del	ClinVar
RCV000088719	p.Leu347Phe	missense variant	-	NC_000012.12:g.102844362G>A	ClinVar
RCV000088718	p.Leu347Ter	frameshift	-	NC_000012.12:g.102844365del	ClinVar
RCV000088720	p.Leu348Ter	frameshift	-	NC_000012.12:g.102844348_102844358del	ClinVar
rs62516092	p.Leu348Val	missense variant	-	NC_000012.12:g.102844359G>C	ESP,ExAC,TOPMed,gnomAD
rs62516092	p.Leu348Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844359G>C	UniProt,dbSNP
VAR_001012	p.Leu348Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844359G>C	UniProt
RCV000150080	p.Leu348Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844359G>C	ClinVar
RCV000078498	p.Leu348Val	missense variant	-	NC_000012.12:g.102844359G>C	ClinVar
rs62508646	p.Ser349Pro	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102844356A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs62508646	p.Ser349Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844356A>G	UniProt,dbSNP
VAR_001014	p.Ser349Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844356A>G	UniProt
rs62508646	p.Ser349Ala	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102844356A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs62507279	p.Ser349Ter	stop gained	-	NC_000012.12:g.102844355G>T	-
rs62507279	p.Ser349Leu	missense variant	-	NC_000012.12:g.102844355G>A	-
rs62507279	p.Ser349Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844355G>A	UniProt,dbSNP
VAR_001013	p.Ser349Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844355G>A	UniProt
RCV000088722	p.Ser349Ter	nonsense	-	NC_000012.12:g.102844355G>T	ClinVar
RCV000088723	p.Ser349Leu	missense variant	-	NC_000012.12:g.102844355G>A	ClinVar
RCV000000646	p.Ser349Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844356A>G	ClinVar
RCV000088721	p.Ser349Ala	missense variant	-	NC_000012.12:g.102844356A>C	ClinVar
RCV000088724	p.Ser350Ter	frameshift	-	NC_000012.12:g.102844354_102844357dup	ClinVar
rs62508628	p.Ser350Tyr	missense variant	-	NC_000012.12:g.102844352G>T	-
rs62517183	p.Ser350Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844353A>T	UniProt,dbSNP
VAR_001015	p.Ser350Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844353A>T	UniProt
rs62517183	p.Ser350Thr	missense variant	-	NC_000012.12:g.102844353A>T	-
RCV000088725	p.Ser350Thr	missense variant	-	NC_000012.12:g.102844353A>T	ClinVar
RCV000088726	p.Ser350Tyr	missense variant	-	NC_000012.12:g.102844352G>T	ClinVar
rs62508686	p.Gly352Arg	missense variant	-	NC_000012.12:g.102844347C>G	-
rs62508686	p.Gly352Cys	missense variant	-	NC_000012.12:g.102844347C>A	-
RCV000088727	p.Gly352Arg	missense variant	-	NC_000012.12:g.102844347C>G	ClinVar
RCV000267428	p.Gly352Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102844347del	ClinVar
RCV000088729	p.Gly352Ter	frameshift	-	NC_000012.12:g.102844347del	ClinVar
RCV000088728	p.Gly352Cys	missense variant	-	NC_000012.12:g.102844347C>A	ClinVar
RCV000088730	p.Glu353Ter	frameshift	-	NC_000012.12:g.102844345del	ClinVar
RCV000088731	p.Gln355Ter	nonsense	-	NC_000012.12:g.102844338G>A	ClinVar
rs199475633	p.Gln355Ter	stop gained	-	NC_000012.12:g.102844338G>A	-
RCV000078501	p.Tyr356Ter	nonsense	-	NC_000012.12:g.102843777G>T	ClinVar
rs62516095	p.Tyr356Ter	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102843777G>T	ExAC,TOPMed,gnomAD
rs62516095	p.Tyr356Ter	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102843777G>C	ExAC,TOPMed,gnomAD
rs62507320	p.Tyr356His	missense variant	-	NC_000012.12:g.102843779A>G	ESP,ExAC,TOPMed,gnomAD
RCV000088743	p.Tyr356His	missense variant	-	NC_000012.12:g.102843779A>G	ClinVar
RCV000150078	p.Tyr356Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102843777G>T	ClinVar
RCV000088745	p.Tyr356Ter	nonsense	-	NC_000012.12:g.102843777G>C	ClinVar
RCV000000626	p.Tyr356Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102843777G>C	ClinVar
rs1291253532	p.Cys357Tyr	missense variant	-	NC_000012.12:g.102843775C>T	gnomAD
RCV000667720	p.Cys357Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843776A>G	ClinVar
rs62508595	p.Cys357Arg	missense variant	-	NC_000012.12:g.102843776A>G	-
RCV000088746	p.Cys357Gly	missense variant	-	NC_000012.12:g.102843776A>C	ClinVar
rs62508595	p.Cys357Gly	missense variant	-	NC_000012.12:g.102843776A>C	-
RCV000672872	p.Leu358Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843771T>A	ClinVar
rs376480977	p.Leu358Phe	missense variant	-	NC_000012.12:g.102843771T>A	ESP,ExAC,gnomAD
RCV000088747	p.Ser359Ter	nonsense	-	NC_000012.12:g.102843769G>C	ClinVar
rs772918939	p.Lys361Ter	stop gained	-	NC_000012.12:g.102843764T>A	ExAC,gnomAD
RCV000088748	p.Pro362Thr	missense variant	-	NC_000012.12:g.102843761G>T	ClinVar
rs62507329	p.Pro362Ser	missense variant	-	NC_000012.12:g.102843761G>A	ExAC,gnomAD
rs62507329	p.Pro362Thr	missense variant	-	NC_000012.12:g.102843761G>T	ExAC,gnomAD
RCV000669869	p.Lys363Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843756C>G	ClinVar
RCV000088750	p.Lys363Asn	missense variant	-	NC_000012.12:g.102843756C>A	ClinVar
rs63329263	p.Lys363Asn	missense variant	-	NC_000012.12:g.102843756C>A	TOPMed
RCV000088749	p.Lys363Ter	frameshift	-	NC_000012.12:g.102843758_102843759del	ClinVar
RCV000169397	p.Lys363Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843756del	ClinVar
rs63329263	p.Lys363Asn	missense variant	-	NC_000012.12:g.102843756C>G	TOPMed
RCV000088751	p.Lys363Ter	frameshift	-	NC_000012.12:g.102843756del	ClinVar
rs1221432852	p.Leu364Phe	missense variant	-	NC_000012.12:g.102843755G>A	TOPMed
VAR_001017	p.Leu364del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
VAR_001018	p.Leu364_Glu368del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
rs951540129	p.Leu365Phe	missense variant	-	NC_000012.12:g.102843752G>A	TOPMed,gnomAD
rs62516098	p.Pro366His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843748G>T	UniProt,dbSNP
VAR_001019	p.Pro366His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843748G>T	UniProt
rs62516098	p.Pro366His	missense variant	-	NC_000012.12:g.102843748G>T	-
RCV000672118	p.Pro366His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843748G>T	ClinVar
RCV000758124	p.Leu367Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843745A>C	ClinVar
RCV000781680	p.Leu367Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843750del	ClinVar
RCV000088758	p.Leu367Pro	missense variant	-	NC_000012.12:g.102843745A>G	ClinVar
RCV000088757	p.Leu367Ter	frameshift	-	NC_000012.12:g.102843750del	ClinVar
RCV000088755	p.Leu367Ter	frameshift	-	NC_000012.12:g.102843750dup	ClinVar
RCV000758105	p.Leu367Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843746G>C	ClinVar
rs1488232864	p.Glu368Lys	missense variant	-	NC_000012.12:g.102843743C>T	TOPMed,gnomAD
rs1488232864	p.Glu368Gln	missense variant	-	NC_000012.12:g.102843743C>G	TOPMed,gnomAD
RCV000088760	p.Lys371Arg	missense variant	-	NC_000012.12:g.102843733T>C	ClinVar
rs62507268	p.Lys371Arg	missense variant	-	NC_000012.12:g.102843733T>C	-
RCV000306209	p.Thr372Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843731T>A	ClinVar
rs62517163	p.Thr372Ser	missense variant	-	NC_000012.12:g.102843731T>A	gnomAD
rs62517163	p.Thr372Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843731T>A	UniProt,dbSNP
VAR_001020	p.Thr372Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843731T>A	UniProt
RCV000088762	p.Ala373Thr	missense variant	-	NC_000012.12:g.102843728C>T	ClinVar
rs62508717	p.Ala373Thr	missense variant	-	NC_000012.12:g.102843728C>T	-
RCV000088763	p.Ala373Ter	frameshift	-	NC_000012.12:g.102843727_102843728del	ClinVar
rs769076484	p.Ile374Val	missense variant	-	NC_000012.12:g.102843725T>C	ExAC,gnomAD
rs769076484	p.Ile374Phe	missense variant	-	NC_000012.12:g.102843725T>A	ExAC,gnomAD
rs184148104	p.Gln375Glu	missense variant	-	NC_000012.12:g.102843722G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000088765	p.Asn376Ter	frameshift	-	NC_000012.12:g.102843721del	ClinVar
rs62642942	p.Tyr377Cys	missense variant	-	NC_000012.12:g.102843715T>C	gnomAD
RCV000088766	p.Tyr377Ter	frameshift	-	NC_000012.12:g.102843717del	ClinVar
RCV000088767	p.Tyr377Cys	missense variant	-	NC_000012.12:g.102843715T>C	ClinVar
RCV000000666	p.Tyr377Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843717del	ClinVar
rs62642911	p.Thr378Ser	missense variant	-	NC_000012.12:g.102843713T>A	-
rs780691974	p.Thr378Ile	missense variant	-	NC_000012.12:g.102843712G>A	ExAC,gnomAD
RCV000088768	p.Thr378Ser	missense variant	-	NC_000012.12:g.102843713T>A	ClinVar
rs746203167	p.Val379Ala	missense variant	-	NC_000012.12:g.102843709A>G	ExAC,TOPMed,gnomAD
rs772630527	p.Val379Leu	missense variant	-	NC_000012.12:g.102843710C>G	ExAC,gnomAD
rs62642937	p.Thr380Met	missense variant	-	NC_000012.12:g.102843706G>A	UniProt,dbSNP
VAR_001022	p.Thr380Met	missense variant	-	NC_000012.12:g.102843706G>A	UniProt
rs62642937	p.Thr380Met	missense variant	-	NC_000012.12:g.102843706G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000850463	p.Thr380Met	missense variant	Marfanoid habitus and intellectual disability	NC_000012.12:g.102843706G>A	ClinVar
rs1555203681	p.Phe382Leu	missense variant	-	NC_000012.12:g.102843701A>G	-
RCV000672945	p.Phe382Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843701A>G	ClinVar
RCV000409716	p.Gln383Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102843698G>A	ClinVar
rs1037293795	p.Gln383Ter	stop gained	-	NC_000012.12:g.102843698G>A	TOPMed
rs1555203677	p.Pro384Ser	missense variant	-	NC_000012.12:g.102843695G>A	-
RCV000666283	p.Pro384Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843695G>A	ClinVar
COSM691582	p.Leu385Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102843691A>G	NCI-TCGA Cosmic
RCV000704392	p.Leu385Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843695del	ClinVar
RCV000173991	p.Tyr386His	missense variant	-	NC_000012.12:g.102843689A>G	ClinVar
RCV000088770	p.Tyr386Asp	missense variant	-	NC_000012.12:g.102843689A>C	ClinVar
rs199475691	p.Tyr386Asp	missense variant	-	NC_000012.12:g.102843689A>C	-
rs199475691	p.Tyr386His	missense variant	-	NC_000012.12:g.102843689A>G	-
RCV000088771	p.Tyr386Cys	missense variant	-	NC_000012.12:g.102843688T>C	ClinVar
rs62516141	p.Tyr386Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843688T>C	UniProt,dbSNP
VAR_001023	p.Tyr386Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843688T>C	UniProt
rs62516141	p.Tyr386Cys	missense variant	-	NC_000012.12:g.102843688T>C	ESP,TOPMed,gnomAD
rs149595475	p.Tyr387Ter	stop gained	-	NC_000012.12:g.102843684G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62517194	p.Tyr387His	missense variant	-	NC_000012.12:g.102843686A>G	-
rs62517194	p.Tyr387His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843686A>G	UniProt,dbSNP
VAR_001024	p.Tyr387His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843686A>G	UniProt
RCV000088772	p.Tyr387His	missense variant	-	NC_000012.12:g.102843686A>G	ClinVar
RCV000106341	p.Val388Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843682A>G	ClinVar
RCV000000650	p.Val388Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>T	ClinVar
RCV000088776	p.Val388Ter	frameshift	-	NC_000012.12:g.102843682_102843683del	ClinVar
rs62516101	p.Val388Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>G	UniProt,dbSNP
VAR_001025	p.Val388Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>G	UniProt
rs62516101	p.Val388Leu	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102843683C>G	ESP,ExAC,TOPMed,gnomAD
rs62516101	p.Val388Met	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102843683C>T	ESP,ExAC,TOPMed,gnomAD
rs281865435	p.Val388Ala	missense variant	-	NC_000012.12:g.102843682A>G	-
rs62516101	p.Val388Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>T	UniProt,dbSNP
VAR_001026	p.Val388Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>T	UniProt
RCV000088774	p.Val388Met	missense variant	-	NC_000012.12:g.102843683C>T	ClinVar
RCV000088775	p.Val388Leu	missense variant	-	NC_000012.12:g.102843683C>G	ClinVar
RCV000669467	p.Ala389Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843679del	ClinVar
RCV000088777	p.Ala389Ter	frameshift	-	NC_000012.12:g.102843679del	ClinVar
RCV000078503	p.Glu390Gly	missense variant	-	NC_000012.12:g.102843676T>C	ClinVar
RCV000000656	p.Glu390Gly	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102843676T>C	ClinVar
rs5030856	p.Glu390Gly	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102843676T>C	ESP,ExAC,TOPMed,gnomAD
RCV000000657	p.Glu390Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843676T>C	ClinVar
NCI-TCGA novel	p.Glu390Asp	missense variant	-	NC_000012.12:g.102843675C>A	NCI-TCGA
RCV000210788	p.Ser391Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843673C>G	ClinVar
RCV000106342	p.Ser391Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843674T>C	ClinVar
RCV000669075	p.Ser391Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843673_102843674CT[2]	ClinVar
rs281865453	p.Ser391Gly	missense variant	-	NC_000012.12:g.102843674T>C	-
rs869312997	p.Ser391Thr	missense variant	-	NC_000012.12:g.102843673C>G	-
RCV000088778	p.Phe392Ser	missense variant	-	NC_000012.12:g.102843670A>G	ClinVar
rs180819807	p.Phe392Ile	missense variant	-	NC_000012.12:g.102843671A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199475695	p.Phe392Ser	missense variant	-	NC_000012.12:g.102843670A>G	-
rs1032248318	p.Asn393Ser	missense variant	-	NC_000012.12:g.102843667T>C	TOPMed,gnomAD
rs761487922	p.Asn393His	missense variant	-	NC_000012.12:g.102843668T>G	ExAC,gnomAD
RCV000714571	p.Asp394His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>G	ClinVar
rs62516142	p.Asp394His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>G	UniProt,dbSNP
VAR_001029	p.Asp394His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>G	UniProt
RCV000088780	p.Asp394Ala	missense variant	-	NC_000012.12:g.102843664T>G	ClinVar
rs62516102	p.Asp394Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843664T>G	UniProt,dbSNP
VAR_001028	p.Asp394Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843664T>G	UniProt
rs62516102	p.Asp394Ala	missense variant	-	NC_000012.12:g.102843664T>G	-
RCV000106343	p.Asp394Tyr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>A	ClinVar
RCV000666841	p.Asp394Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843665del	ClinVar
rs62508736	p.Ala395Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843661G>C	UniProt,dbSNP
VAR_001030	p.Ala395Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843661G>C	UniProt
rs62508736	p.Ala395Gly	missense variant	-	NC_000012.12:g.102843661G>C	ESP,ExAC,TOPMed,gnomAD
RCV000781679	p.Ala395Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843662C>G	ClinVar
rs62516103	p.Ala395Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843662C>G	UniProt,dbSNP
VAR_001031	p.Ala395Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843662C>G	UniProt
rs62516103	p.Ala395Pro	missense variant	-	NC_000012.12:g.102843662C>G	ExAC,TOPMed,gnomAD
RCV000088782	p.Ala395Asp	missense variant	-	NC_000012.12:g.102843661G>T	ClinVar
RCV000410586	p.Ala395Gly	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843661G>C	ClinVar
rs62508736	p.Ala395Asp	missense variant	-	NC_000012.12:g.102843661G>T	ESP,ExAC,TOPMed,gnomAD
rs776178623	p.Lys396Arg	missense variant	-	NC_000012.12:g.102843658T>C	ExAC,gnomAD
rs1237673210	p.Glu397Lys	missense variant	-	NC_000012.12:g.102843656C>T	TOPMed
COSM4901318	p.Lys398Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102843651T>A	NCI-TCGA Cosmic
RCV000088785	p.Val399Ter	frameshift	-	NC_000012.12:g.102843649_102843652del	ClinVar
RCV000106344	p.Val399Ala	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843649A>G	ClinVar
rs281865436	p.Val399Ala	missense variant	-	NC_000012.12:g.102843649A>G	-
VAR_001032	p.Val399_Arg400del	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000672156	p.Arg400Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843646C>T	ClinVar
RCV000671992	p.Arg400Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843648del	ClinVar
RCV000088796	p.Arg400Thr	missense variant	-	NC_000012.12:g.102843646C>G	ClinVar
RCV000088788	p.Arg400Ter	frameshift	-	NC_000012.12:g.102843648del	ClinVar
rs199475658	p.Arg400Lys	missense variant	-	NC_000012.12:g.102843646C>T	gnomAD
rs199475658	p.Arg400Thr	missense variant	-	NC_000012.12:g.102843646C>G	gnomAD
NCI-TCGA novel	p.Asn401Lys	missense variant	-	NC_000012.12:g.102840512G>T	NCI-TCGA
RCV000088800	p.Phe402Leu	missense variant	-	NC_000012.12:g.102840511A>G	ClinVar
rs62508725	p.Phe402Leu	missense variant	-	NC_000012.12:g.102840511A>G	-
rs1399587250	p.Phe402Ser	missense variant	-	NC_000012.12:g.102840510A>G	gnomAD
RCV000078506	p.Ala403Val	missense variant	-	NC_000012.12:g.102840507G>A	ClinVar
RCV000150075	p.Ala403Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840507G>A	ClinVar
rs5030857	p.Ala403Val	missense variant	-	NC_000012.12:g.102840507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000622360	p.Ala403Val	missense variant	Inborn genetic diseases	NC_000012.12:g.102840507G>A	ClinVar
RCV000301874	p.Ala404Pro	missense variant	-	NC_000012.12:g.102840505C>G	ClinVar
rs886043085	p.Ala404Pro	missense variant	-	NC_000012.12:g.102840505C>G	gnomAD
rs886043085	p.Ala404Ser	missense variant	-	NC_000012.12:g.102840505C>A	gnomAD
RCV000674210	p.Ala404Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102840506del	ClinVar
RCV000668256	p.Ile406Met	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840497T>C	ClinVar
rs773526027	p.Ile406Met	missense variant	-	NC_000012.12:g.102840497T>C	ExAC,TOPMed,gnomAD
RCV000758128	p.Ile406Thr	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840498A>G	ClinVar
RCV000758135	p.Ile406Val	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840499T>C	ClinVar
rs749613899	p.Ile406Val	missense variant	-	NC_000012.12:g.102840499T>C	ExAC,TOPMed,gnomAD
RCV000672236	p.Pro407Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840496G>A	ClinVar
RCV000000667	p.Pro407Leu	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840495G>A	ClinVar
RCV000088805	p.Pro407Ter	frameshift	-	NC_000012.12:g.102840496del	ClinVar
rs62644473	p.Pro407Leu	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840495G>A	-
rs5030859	p.Arg408Gln	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840492C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs5030858	p.Arg408Trp	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000000607	p.Arg408Trp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840493G>A	ClinVar
RCV000000643	p.Arg408Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840492C>T	ClinVar
RCV000088806	p.Arg408Gln	missense variant	-	NC_000012.12:g.102840492C>T	ClinVar
RCV000078507	p.Arg408Trp	missense variant	-	NC_000012.12:g.102840493G>A	ClinVar
COSM430187	p.Pro409His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102840489G>T	NCI-TCGA Cosmic
rs1457736410	p.Pro409Ser	missense variant	-	NC_000012.12:g.102840490G>A	gnomAD
RCV000088808	p.Phe410Cys	missense variant	-	NC_000012.12:g.102840486A>C	ClinVar
rs62644475	p.Phe410Ser	missense variant	-	NC_000012.12:g.102840486A>G	-
RCV000665363	p.Phe410Ser	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840486A>G	ClinVar
RCV000088810	p.Ser411Ter	nonsense	-	NC_000012.12:g.102840483G>T	ClinVar
rs62644477	p.Ser411Ter	stop gained	-	NC_000012.12:g.102840483G>T	-
NCI-TCGA novel	p.Ser411Thr	missense variant	-	NC_000012.12:g.102840484A>T	NCI-TCGA
COSM3986575	p.Val412Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102840480A>G	NCI-TCGA Cosmic
rs899129158	p.Val412Phe	missense variant	-	NC_000012.12:g.102840481C>A	gnomAD
rs899129158	p.Val412Ile	missense variant	-	NC_000012.12:g.102840481C>T	gnomAD
RCV000088811	p.Arg413Ser	missense variant	-	NC_000012.12:g.102840478G>T	ClinVar
RCV000088812	p.Arg413Cys	missense variant	-	NC_000012.12:g.102840478G>A	ClinVar
rs62644467	p.Arg413Ser	missense variant	-	NC_000012.12:g.102840478G>T	ExAC,TOPMed,gnomAD
RCV000000623	p.Arg413Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840477C>G	ClinVar
RCV000088813	p.Arg413Pro	missense variant	-	NC_000012.12:g.102840477C>G	ClinVar
rs62644467	p.Arg413Cys	missense variant	-	NC_000012.12:g.102840478G>A	ExAC,TOPMed,gnomAD
rs79931499	p.Arg413Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840477C>G	UniProt,dbSNP
VAR_001036	p.Arg413Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840477C>G	UniProt
rs79931499	p.Arg413Pro	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840477C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs79931499	p.Arg413His	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840477C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000106346	p.Tyr414His	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840475A>G	ClinVar
rs5030860	p.Tyr414Cys	missense variant	-	NC_000012.12:g.102840474T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs281865437	p.Tyr414His	missense variant	-	NC_000012.12:g.102840475A>G	ExAC,gnomAD
RCV000078508	p.Tyr414Cys	missense variant	-	NC_000012.12:g.102840474T>C	ClinVar
RCV000150074	p.Tyr414Cys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840474T>C	ClinVar
RCV000000624	p.Tyr414Cys	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102840474T>C	ClinVar
rs62644499	p.Asp415Asn	missense variant	-	NC_000012.12:g.102840472C>T	ExAC,TOPMed,gnomAD
RCV000000648	p.Asp415Asn	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102840472C>T	ClinVar
RCV000401074	p.Asp415Asn	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840472C>T	ClinVar
rs1445893088	p.Pro416Gln	missense variant	-	NC_000012.12:g.102840468G>T	gnomAD
RCV000674315	p.Pro416Gln	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840468G>T	ClinVar
rs1371700813	p.Tyr417Cys	missense variant	-	NC_000012.12:g.102840465T>C	gnomAD
RCV000088817	p.Tyr417His	missense variant	-	NC_000012.12:g.102840466A>G	ClinVar
RCV000088816	p.Tyr417Asn	missense variant	-	NC_000012.12:g.102840466A>T	ClinVar
rs62644471	p.Tyr417His	missense variant	-	NC_000012.12:g.102840466A>G	-
rs62644471	p.Tyr417Asn	missense variant	-	NC_000012.12:g.102840466A>T	-
rs62644501	p.Thr418Pro	missense variant	-	NC_000012.12:g.102840463T>G	gnomAD
rs62644501	p.Thr418Ala	missense variant	-	NC_000012.12:g.102840463T>C	gnomAD
RCV000672448	p.Thr418Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840463T>G	ClinVar
RCV000667759	p.Gln419Arg	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840459T>C	ClinVar
rs752255985	p.Gln419Arg	missense variant	-	NC_000012.12:g.102840459T>C	ExAC,TOPMed,gnomAD
rs767075719	p.Arg420Met	missense variant	-	NC_000012.12:g.102840456C>A	ExAC,TOPMed,gnomAD
rs1162831467	p.Arg420Gly	missense variant	-	NC_000012.12:g.102840457T>C	TOPMed,gnomAD
rs767075719	p.Arg420Thr	missense variant	-	NC_000012.12:g.102840456C>G	ExAC,TOPMed,gnomAD
RCV000088820	p.Ile421Thr	missense variant	-	NC_000012.12:g.102840453A>G	ClinVar
rs199475696	p.Ile421Thr	missense variant	-	NC_000012.12:g.102840453A>G	ExAC,gnomAD
VAR_067760	p.Ile421Ser	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
RCV000088821	p.Glu422Lys	missense variant	-	NC_000012.12:g.102840451C>T	ClinVar
rs199475621	p.Glu422Lys	missense variant	-	NC_000012.12:g.102840451C>T	-
NCI-TCGA novel	p.Glu422Gly	missense variant	-	NC_000012.12:g.102840450T>C	NCI-TCGA
COSM1358227	p.Val423Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102840447A>G	NCI-TCGA Cosmic
rs1202739696	p.Val423Ile	missense variant	-	NC_000012.12:g.102840448C>T	TOPMed,gnomAD
RCV000088822	p.Leu424Ser	missense variant	-	NC_000012.12:g.102840444A>G	ClinVar
rs199475670	p.Leu424Ser	missense variant	-	NC_000012.12:g.102840444A>G	-
rs148041893	p.Leu424Val	missense variant	-	NC_000012.12:g.102840445A>C	ESP,TOPMed,gnomAD
rs1439603624	p.Asp425Asn	missense variant	-	NC_000012.12:g.102840442C>T	gnomAD
NCI-TCGA novel	p.Asp425Gly	missense variant	-	NC_000012.12:g.102840441T>C	NCI-TCGA
rs1251784003	p.Thr427Ile	missense variant	-	NC_000012.12:g.102840435G>A	TOPMed,gnomAD
RCV000410471	p.Gln428Ter	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102840433G>A	ClinVar
rs567261857	p.Gln428Glu	missense variant	-	NC_000012.12:g.102840433G>C	1000Genomes,ExAC,gnomAD
rs567261857	p.Gln428Ter	stop gained	-	NC_000012.12:g.102840433G>A	1000Genomes,ExAC,gnomAD
RCV000759177	p.Gln428Ter	nonsense	-	NC_000012.12:g.102840433G>A	ClinVar
RCV000666644	p.Gln429Lys	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840430G>T	ClinVar
RCV000174234	p.Gln429Pro	missense variant	-	NC_000012.12:g.102840429T>G	ClinVar
rs764974157	p.Gln429Ter	stop gained	-	NC_000012.12:g.102840430G>A	ExAC,TOPMed,gnomAD
rs794727047	p.Gln429Pro	missense variant	-	NC_000012.12:g.102840429T>G	gnomAD
rs764974157	p.Gln429Lys	missense variant	-	NC_000012.12:g.102840430G>T	ExAC,TOPMed,gnomAD
RCV000088824	p.Leu430Pro	missense variant	-	NC_000012.12:g.102840426A>G	ClinVar
rs199475607	p.Leu430Pro	missense variant	-	NC_000012.12:g.102840426A>G	-
rs199475607	p.Leu430Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840426A>G	UniProt,dbSNP
VAR_001041	p.Leu430Pro	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840426A>G	UniProt
NCI-TCGA novel	p.Leu430Phe	missense variant	-	NC_000012.12:g.102840427G>A	NCI-TCGA
RCV000666334	p.Lys431Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102840422_102840423del	ClinVar
RCV000410563	p.Leu433Ter	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102840420dup	ClinVar
RCV000169393	p.Ala434Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840414G>T	ClinVar
rs1355432845	p.Ala434Thr	missense variant	-	NC_000012.12:g.102840415C>T	gnomAD
rs199475659	p.Ala434Asp	missense variant	-	NC_000012.12:g.102840414G>T	TOPMed
rs748303375	p.Asp435Glu	missense variant	-	NC_000012.12:g.102840410A>T	ExAC,gnomAD
rs989098970	p.Ser439Gly	missense variant	-	NC_000012.12:g.102840400T>C	gnomAD
NCI-TCGA novel	p.Ser439Thr	missense variant	-	NC_000012.12:g.102839218C>G	NCI-TCGA
rs775391163	p.Ser439Asn	missense variant	-	NC_000012.12:g.102839218C>T	ExAC,gnomAD
rs1447503178	p.Ile441Thr	missense variant	-	NC_000012.12:g.102839212A>G	TOPMed
COSM2063910	p.Gly442Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102839210C>T	NCI-TCGA Cosmic
rs1285012083	p.Ile443Met	missense variant	-	NC_000012.12:g.102839205G>C	TOPMed
rs1402168594	p.Leu444Ile	missense variant	-	NC_000012.12:g.102839204G>T	TOPMed,gnomAD
rs1402168594	p.Leu444Phe	missense variant	-	NC_000012.12:g.102839204G>A	TOPMed,gnomAD
RCV000666307	p.Leu444Phe	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839204G>A	ClinVar
COSM1561882	p.Cys445Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102839200C>A	NCI-TCGA Cosmic
rs770906256	p.Ser446Asn	missense variant	-	NC_000012.12:g.102839197C>T	ExAC,gnomAD
rs565686453	p.Ser446Gly	missense variant	-	NC_000012.12:g.102839198T>C	1000Genomes,TOPMed,gnomAD
rs1192400891	p.Ala447Thr	missense variant	-	NC_000012.12:g.102839195C>T	TOPMed,gnomAD
RCV000088834	p.Ala447Asp	missense variant	-	NC_000012.12:g.102839194G>T	ClinVar
rs76542238	p.Ala447Asp	missense variant	-	NC_000012.12:g.102839194G>T	ExAC,TOPMed,gnomAD
rs76542238	p.Ala447Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839194G>T	UniProt,dbSNP
VAR_001042	p.Ala447Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839194G>T	UniProt
RCV000632880	p.Ala447Asp	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839194G>T	ClinVar
NCI-TCGA novel	p.Ala447Val	missense variant	-	NC_000012.12:g.102839194G>A	NCI-TCGA
rs769777460	p.Leu448His	missense variant	-	NC_000012.12:g.102839191A>T	ExAC,gnomAD
rs1258710210	p.Gln449His	missense variant	-	NC_000012.12:g.102839187C>G	TOPMed,gnomAD
rs1441742009	p.Gln449Arg	missense variant	-	NC_000012.12:g.102839188T>C	gnomAD
rs1258710210	p.Gln449His	missense variant	-	NC_000012.12:g.102839187C>A	TOPMed,gnomAD
rs781041737	p.Ile451Thr	missense variant	-	NC_000012.12:g.102839182A>G	ExAC,gnomAD
RCV000088835	p.Ter453Val	frameshift	-	NC_000012.12:g.102839181dup	ClinVar
RCV000724595	p.Ter453Pro	stop lost	-	NC_000012.12:g.102839173_102839177CTTTA[1]	ClinVar
RCV000174462	p.Ter453Pro	stop lost	Phenylketonuria (PKU)	NC_000012.12:g.102839173_102839177CTTTA[1]	ClinVar
RCV000169511	p.Ter453Val	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102839181dup	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001807	Aggressive behavior	phenotype	HPO
C0002453	Amenorrhea	phenotype	BEFREE
C0002514	Amino Acid Metabolism, Inborn Errors	group	BEFREE
C0003467	Anxiety	disease	HPO
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0004352	Autistic Disorder	group	HPO
C0004936	Mental disorders	group	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0010674	Cystic Fibrosis	disease	BEFREE
C0011253	Delusions	disease	BEFREE
C0011581	Depressive disorder	disease	HPO
C0011644	Scleroderma	disease	HPO
C0013595	Eczema	disease	HPO
C0014544	Epilepsy	disease	HPO
C0014859	Esophageal Neoplasms	group	BEFREE
C0016952	Galactosemias	disease	BEFREE
C0018834	Heartburn	phenotype	BEFREE
C0019247	Hereditary Diseases	group	BEFREE
C0020459	Hyperinsulinism	disease	BEFREE
C0022595	Keratosis Follicularis	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0025362	Mental Retardation	disease	BEFREE;HPO
C0025517	Metabolic Diseases	group	BEFREE
C0025521	Inborn Errors of Metabolism	group	BEFREE
C0026826	Muscle Hypertonia	phenotype	HPO
C0027498	Nausea and vomiting	phenotype	BEFREE;HPO
C0028768	Obsessive-Compulsive Disorder	disease	HPO
C0031485	Phenylketonurias	group	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET
C0033975	Psychotic Disorders	group	HPO;PSYGENET
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036572	Seizures	phenotype	HPO
C0036601	Self Mutilation	phenotype	HPO
C0036857	Severe mental retardation (I.Q. 20-34)	disease	BEFREE;HPO
C0040822	Tremor	phenotype	HPO
C0041341	Tuberous Sclerosis	disease	BEFREE
C0042900	Vitiligo	disease	BEFREE
C0085547	Phenylketonuria, Maternal	disease	BEFREE;MGD;ORPHANET;UNIPROT
C0086543	Cataract	disease	HPO
C0151686	Growth retardation	phenotype	HPO
C0151889	Hyperreflexia	phenotype	HPO
C0151908	Dry skin	phenotype	HPO
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0152171	Idiopathic pulmonary hypertension	disease	BEFREE
C0162429	Malnutrition	disease	BEFREE
C0162739	HELLP Syndrome	disease	BEFREE
C0162835	Hypopigmentation disorder	group	HPO
C0201874	Amino acids measurement	phenotype	GWASCAT
C0202202	Protein measurement	group	GWASCAT
C0206138	CREST Syndrome	disease	BEFREE
C0231367	Activity intolerance	phenotype	BEFREE
C0233514	Abnormal behavior	phenotype	BEFREE
C0233794	Memory impairment	phenotype	HPO
C0235031	Neurologic Symptoms	group	BEFREE
C0239801	Blonde hair	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0259817	Xerosis	disease	HPO
C0268151	Classical galactosemia	disease	BEFREE
C0268463	Persistent hyperphenylalaninemia	disease	BEFREE
C0268465	Phenylketonuria II	disease	CTD_human
C0270685	Cerebral calcification	phenotype	HPO
C0339573	Glaucoma, Primary Open Angle	disease	BEFREE
C0340543	Familial primary pulmonary hypertension	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE
C0424323	Physical aggression	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0456070	Growth delay	phenotype	HPO
C0542476	Forgetful	phenotype	HPO
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0578626	blue iris (physical finding)	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600104	Obsessive compulsive behavior	disease	HPO
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686347	Tardive Dyskinesia	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0751295	Memory Loss	phenotype	HPO
C0751434	Classical phenylketonuria	disease	BEFREE;CTD_human;HPO;ORPHANET;UNIPROT
C0751435	Hyperphenylalaninaemia	disease	BEFREE;CLINVAR;CTD_human;HPO;ORPHANET
C0751436	Hyperphenylalaninemia, Non-Phenylketonuric	disease	BEFREE;CTD_human
C0878787	Growth failure	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1263846	Attention deficit hyperactivity disorder	disease	HPO
C1274865	Scleroderma-like secondary cutaneous sclerosis	disease	HPO
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1402315	Vascular lesions	disease	BEFREE
C1457883	Aggressive reaction	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1837385	Poor growth	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1847835	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	disease	BEFREE
C1849221	Fair hair	phenotype	HPO
C1849923	Generalized hypopigmentation	phenotype	HPO
C1849926	Phenylpyruvic acidemia	phenotype	HPO
C1851920	Dopa-Responsive Dystonia	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2678416	Hyperphenylalaninemia, Non-Pku Mild	disease	CLINVAR;UNIPROT
C2700617	Irritation - emotion	phenotype	HPO
C2718001	Protein Misfolding Disorders	group	BEFREE
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3278401	Hypopigmentation of hair	phenotype	HPO
C3552463	Very poor growth	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C3714760	Drug-induced tardive dyskinesia	disease	BEFREE
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020884	Anxiety disease	disease	HPO
C4022014	Maternal hyperphenylalaninemia	phenotype	HPO
C4025094	Reduced phenylalanine hydroxylase activity	phenotype	HPO
C4049796	Abnormality of cardiovascular system morphology	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004505	phenylalanine 4-monooxygenase activity	IDA
GO:0004505	phenylalanine 4-monooxygenase activity	IBA
GO:0005506	iron ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006559	L-phenylalanine catabolic process	IEA
GO:0006559	L-phenylalanine catabolic process	TAS
GO:0006571	tyrosine biosynthetic process	IBA
GO:0008652	cellular amino acid biosynthetic process	TAS
GO:0042136	neurotransmitter biosynthetic process	NAS
GO:0042423	catecholamine biosynthetic process	NAS
GO:0055114	oxidation-reduction process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1643685	Disease	TAS
R-HSA-2160456	Phenylketonuria	TAS
R-HSA-5668914	Diseases of metabolism	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS
R-HSA-8963691	Phenylalanine and tyrosine metabolism	TAS
R-HSA-8964208	Phenylalanine metabolism	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in decreased expression of PAH mRNA	22579512
C576882	1-(2-trifluoromethoxyphenyl)-2-nitroethanone	1-(2-trifluoromethoxyphenyl)-2-nitroethanone results in decreased expression of PAH protein	22527513
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of PAH mRNA	29038090
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of PAH mRNA	19114083
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl affects the expression of PAH mRNA	31388691
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran results in decreased expression of PAH mRNA	21724226
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of PAH mRNA	20406850
C028451	3,4,3',4'-tetrachlorobiphenyl	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of PAH mRNA]	19467301
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAH mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PAH mRNA	26238291
D000082	Acetaminophen	Acetaminophen results in decreased expression of PAH mRNA	29067470
D000082	Acetaminophen	Acetaminophen results in increased expression of PAH mRNA	26690555
D000082	Acetaminophen	Acetaminophen affects the expression of PAH mRNA	17562736
D000082	Acetaminophen	[CTH gene mutant form results in increased susceptibility to Acetaminophen] which results in decreased expression of PAH protein	25499718
D000082	Acetaminophen	Acetaminophen results in increased expression of PAH protein	16538041
D000108	Acetylcarnitine	Acetylcarnitine results in decreased expression of PAH mRNA	19555370
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of PAH protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PAH mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PAH gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PAH mRNA	19770486
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin analog results in decreased expression of PAH protein	26597043
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in decreased expression of PAH protein	26597043
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of PAH mRNA	28522335
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PAH mRNA	16483693
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of PAH mRNA	19446018
C005948	astaxanthine	astaxanthine results in decreased expression of PAH mRNA	19555370
D001379	Azathioprine	Azathioprine results in decreased expression of PAH mRNA	22623647
D001507	Beclomethasone	Beclomethasone results in increased expression of PAH mRNA	23656298
C030935	benz(a)anthracene	benz(a)anthracene results in decreased expression of PAH mRNA	22579512
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PAH mRNA	20106945; 21632981; 22316170; 22579512; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PAH mRNA	19770486
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of PAH mRNA	22579512
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in decreased expression of PAH mRNA	19737606
C006780	bisphenol A	bisphenol A results in increased expression of PAH mRNA	26364221
C006780	bisphenol A	bisphenol A affects the expression of PAH mRNA	30903817
C006780	bisphenol A	bisphenol A results in increased expression of PAH mRNA	25594700; 30245210;
C006780	bisphenol A	bisphenol A results in decreased expression of PAH mRNA	25181051; 30816183;
D002104	Cadmium	Cadmium results in increased expression of PAH mRNA	24084258
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of PAH protein	21667247
D002233	Carbocysteine	PAH protein results in increased oxidation of Carbocysteine	19367645
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PAH mRNA	17084009; 27339419;
D002251	Carbon Tetrachloride	CYP2E1 gene mutant form inhibits the reaction [Carbon Tetrachloride results in decreased expression of PAH mRNA]	17084009
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased activity of PAH protein	16139311
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PAH mRNA	16178884
D002251	Carbon Tetrachloride	[Olive Oil analog co-treated with Carbon Tetrachloride] affects the expression of PAH protein	25303780
C031180	chrysene	chrysene results in decreased expression of PAH mRNA	22579512
C019304	ciprofibrate	ciprofibrate results in decreased expression of PAH mRNA	12771043
D002995	Clofibric Acid	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PAH mRNA	17602206
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PAH mRNA	24386269
C024989	coenzyme Q10	coenzyme Q10 results in decreased expression of PAH mRNA	19555370
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PAH mRNA	19549813
D003474	Curcumin	Curcumin results in decreased expression of PAH mRNA	19555370
D016572	Cyclosporine	Cyclosporine results in decreased expression of PAH mRNA	20106945; 21632981; 25562108;
C010902	decabromobiphenyl ether	decabromobiphenyl ether analog results in increased expression of PAH mRNA	26854739
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of PAH mRNA	26924002
D004041	Dietary Fats	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of PAH mRNA]	19467301
D004041	Dietary Fats	Dietary Fats results in increased expression of PAH mRNA	19467301
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of PAH mRNA	21527772
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of PAH mRNA	12771043
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PAH mRNA	17602206
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of PAH mRNA	26924002
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAH mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of PAH mRNA	29391264
C118739	entinostat	entinostat results in increased expression of PAH mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAH mRNA	27188386
D004958	Estradiol	Estradiol results in decreased expression of PAH mRNA	20106945
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PAH mRNA	17606305
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PAH protein	20227414
D005033	Ethylmaleimide	Ethylmaleimide results in increased activity of [PAH protein binds to PAH protein binds to PAH protein binds to PAH protein]	19367645
D005485	Flutamide	Flutamide results in decreased expression of PAH mRNA	19299419; 24793618;
D005897	Glafenine	Glafenine results in decreased expression of PAH mRNA	24136188
C004312	glycidol	glycidol results in decreased expression of PAH mRNA	24915197
C010974	glyphosate	[Surface-Active Agents co-treated with glyphosate] results in increased expression of PAH mRNA	22467014
C041508	indeno(1,2,3-cd)pyrene	indeno(1,2,3-cd)pyrene results in decreased expression of PAH mRNA	22579512
C410337	K 7174	K 7174 results in decreased expression of PAH mRNA	24086573
D048628	Ketolides	Ketolides analog results in decreased expression of PAH mRNA	24967691
C011890	kojic acid	kojic acid results in decreased expression of PAH mRNA	16595896
D000077276	Lycopene	Lycopene results in decreased expression of PAH mRNA	19555370
D008244	Lysophosphatidylcholines	Lysophosphatidylcholines results in increased activity of [PAH protein binds to PAH protein binds to PAH protein binds to PAH protein]	19367645
D008701	Methapyrilene	Methapyrilene results in decreased expression of PAH mRNA	30467583
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of PAH mRNA	22579512
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PAH mRNA	23103053
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of PAH mRNA	27544571
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of PAH mRNA	26011545
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of PAH mRNA	22401849
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of PAH mRNA	26924002
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PAH mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PAH mRNA	25620056
C031721	naphthalene	naphthalene results in decreased expression of PAH mRNA	22579512
D009532	Nickel	Nickel results in increased expression of PAH mRNA	24084258
C002741	N-nitrosomorpholine	N-nitrosomorpholine results in decreased expression of PAH protein	19716841
C108709	oleoyl-estrone	oleoyl-estrone results in decreased expression of PAH mRNA	19793540
D000069463	Olive Oil	[Olive Oil analog co-treated with Carbon Tetrachloride] affects the expression of PAH protein	25303780
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of PAH mRNA	25868421
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of PAH mRNA	17097637
C069276	peroxovanadate	peroxovanadate inhibits the reaction [Streptozocin results in increased activity of PAH protein]	11055810
C069276	peroxovanadate	peroxovanadate inhibits the reaction [Streptozocin results in increased expression of PAH mRNA]	11055810
C031181	phenanthrene	phenanthrene results in decreased expression of PAH mRNA	22579512
D010634	Phenobarbital	Phenobarbital results in decreased expression of PAH protein	19952500
C006253	pirinixic acid	[pirinixic acid co-treated with PPARA] results in decreased expression of PAH mRNA	20813756
C006253	pirinixic acid	pirinixic acid results in decreased expression of PAH mRNA	16221962; 20813756;
C006253	pirinixic acid	pirinixic acid results in decreased expression of PAH mRNA	17164430
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PAH mRNA	23608068
C045950	propiconazole	propiconazole results in increased metabolism of PAH protein	19714882
D011794	Quercetin	Quercetin results in decreased expression of PAH mRNA	21632981
D000077185	Resveratrol	Resveratrol results in decreased expression of PAH mRNA	19555370
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of PAH mRNA	21515302
C008425	S-methylcysteine	PAH protein results in increased oxidation of S-methylcysteine	19367645
C009277	sodium arsenate	sodium arsenate results in decreased expression of PAH mRNA	23922661
C017947	sodium arsenite	sodium arsenite affects the methylation of PAH gene	28589171
C017947	sodium arsenite	sodium arsenite results in decreased expression of PAH mRNA	29301061
C017947	sodium arsenite	sodium arsenite results in increased expression of PAH protein	29044176
C017947	sodium arsenite	sodium arsenite results in increased expression of PAH protein	29459688
C016104	sodium bichromate	sodium bichromate results in decreased expression of PAH mRNA	24612858
C016104	sodium bichromate	sodium bichromate affects the expression of PAH mRNA	22110744
D013311	Streptozocin	peroxovanadate inhibits the reaction [Streptozocin results in increased activity of PAH protein]	11055810
D013311	Streptozocin	peroxovanadate inhibits the reaction [Streptozocin results in increased expression of PAH mRNA]	11055810
D013311	Streptozocin	Streptozocin results in increased activity of PAH protein	11055810
D013311	Streptozocin	Streptozocin results in increased expression of PAH mRNA	11055810
D013501	Surface-Active Agents	[Surface-Active Agents co-treated with glyphosate] results in increased expression of PAH mRNA	22467014
D013605	T-2 Toxin	T-2 Toxin results in increased expression of PAH mRNA	31299295
C031655	tauroursodeoxycholic acid	tauroursodeoxycholic acid results in decreased expression of PAH mRNA	15885361
C001803	tempol	tempol results in decreased expression of PAH mRNA	19555370
C501413	tesaglitazar	tesaglitazar results in decreased expression of PAH mRNA	21515302
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PAH mRNA	16443690
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PAH mRNA	26854739
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PAH mRNA	20106945; 21632981; 26238291;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PAH mRNA	26377647
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of PAH mRNA	16214954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PAH promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PAH mRNA	18796159; 19770486; 28922406;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PAH mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PAH mRNA	21215274; 21724226;
D013752	Tetracycline	Tetracycline results in decreased expression of PAH mRNA	24489787
C582340	tetradecabromodiphenoxybenzene	tetradecabromodiphenoxybenzene analog results in increased expression of PAH mRNA	26854739
C011126	tetraiodothyroacetic acid	tetraiodothyroacetic acid results in decreased expression of PAH mRNA	29458080
D008063	Thioctic Acid	Thioctic Acid results in decreased expression of PAH mRNA	19555370
C009495	titanium dioxide	titanium dioxide results in increased expression of PAH mRNA	23557971
D014212	Tretinoin	Tretinoin results in decreased expression of PAH mRNA	18230668
D014241	Trichloroethylene	Trichloroethylene results in increased expression of PAH mRNA	19254012
C012589	trichostatin A	trichostatin A results in decreased expression of PAH mRNA	15901671
D014260	Triclosan	Triclosan results in decreased expression of PAH protein	30219713
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of PAH mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of PAH mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of PAH mRNA	15901671
D014635	Valproic Acid	Valproic Acid results in decreased expression of PAH mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of PAH mRNA	28001369
D014640	Vancomycin	Vancomycin results in increased expression of PAH mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of PAH gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0021	Allosteric enzyme
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0408	Iron
KW-0479	Metal-binding
KW-0503	Monooxygenase
KW-0560	Oxidoreductase
KW-0585	Phenylalanine catabolism
KW-0586	Phenylketonuria
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR002912	ACT_dom
IPR001273	ArAA_hydroxylase
IPR018301	ArAA_hydroxylase_Fe/CU_BS
IPR036951	ArAA_hydroxylase_sf
IPR036329	Aro-AA_hydroxylase_C_sf
IPR019774	Aromatic-AA_hydroxylase_C
IPR041912	Euk_PheOH_cat
IPR005961	Phe-4-hydroxylase_tetra
IPR019773	Tyrosine_3-monooxygenase-like

PROSITE

PROSITE ID	PROSITE Term
PS51671	ACT
PS00367	BH4_AAA_HYDROXYL_1
PS51410	BH4_AAA_HYDROXYL_2

Pfam

Pfam ID	Pfam Term
PF01842	ACT
PF00351	Biopterin_H

Gene: PAH

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction