P00439
SS
Gene name |
PAH |
Protein name |
Phenylalanine-4-hydroxylase |
Names |
PAH , EC 1.14.16.1 , Phe-4-monooxygenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5053 |
EC number |
1.14.16.1: With reduced pteridine as one donor, and incorporation of one atom of oxygen |
Protein Class |
|
Descriptions
Mammalian phenylalanine hydroxylase (PAH) is a multidomain homo-multimeric protein whose dysfunction causes the most common inborn error in amino acid metabolism, phenylketonuria (PKU), and milder forms of hyperphenylalaninemia. PAH catalyzes the hydroxylation of phenylalanine (Phe) to tyrosine, using nonheme iron and the cosubstrates tetrahydrobiopterin and molecular oxygen. Phe allosterically activates PAH by binding to the regulatory domain. Phosphorylation at Ser16 potentiates the effects of Phe, with phosphorylated PAH achieving full activation at lower Phe concentrations than the unphosphorylated protein. Allosteric activation by Phe is accompanied by major conformational changes that move the N-terminal regulatory region away from the active site and stabilization of the tetrameric conformation.
Autoinhibitory domains (AIDs)
Target domain |
119-424 (Catalytic domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Arturo EC et al. (2016) "First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer", Proceedings of the National Academy of Sciences of the United States of America, 113, 2394-9
- Daubner SC et al. (1997) "Characterization of chimeric pterin-dependent hydroxylases: contributions of the regulatory domains of tyrosine and phenylalanine hydroxylase to substrate specificity", Biochemistry, 36, 11574-82
Autoinhibited structure
Activated structure
21 structures for P00439
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1DMW | X-ray | 200 A | A | 118-424 | PDB |
| 1J8T | X-ray | 170 A | A | 103-427 | PDB |
| 1J8U | X-ray | 150 A | A | 103-427 | PDB |
| 1KW0 | X-ray | 250 A | A | 103-427 | PDB |
| 1LRM | X-ray | 210 A | A | 103-427 | PDB |
| 1MMK | X-ray | 200 A | A | 103-427 | PDB |
| 1MMT | X-ray | 200 A | A | 103-427 | PDB |
| 1PAH | X-ray | 200 A | A | 117-424 | PDB |
| 1TDW | X-ray | 210 A | A | 117-424 | PDB |
| 1TG2 | X-ray | 220 A | A | 117-424 | PDB |
| 2PAH | X-ray | 310 A | A/B | 118-452 | PDB |
| 3PAH | X-ray | 200 A | A | 117-424 | PDB |
| 4ANP | X-ray | 211 A | A | 104-427 | PDB |
| 4PAH | X-ray | 200 A | A | 117-424 | PDB |
| 5FII | X-ray | 180 A | A/B/C/D | 19-118 | PDB |
| 5PAH | X-ray | 210 A | A | 117-424 | PDB |
| 6HPO | X-ray | 167 A | A | 1-452 | PDB |
| 6HYC | X-ray | 318 A | A/B/C/D | 1-452 | PDB |
| 6N1K | X-ray | 306 A | A/B/C/D | 2-452 | PDB |
| 6PAH | X-ray | 215 A | A | 117-424 | PDB |
| AF-P00439-F1 | Predicted | AlphaFoldDB |
1050 variants for P00439
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000709702 RCV000088911 CA229532 RCV000000653 rs62514893 |
1 | M>I | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000088869 RCV000993611 CA229482 rs62514891 |
1 | M>L | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000088893 RCV000993612 CA229509 rs62508575 |
1 | M>R | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA312807 RCV000186076 rs62508575 RCV000984289 |
1 | M>T | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000000616 RCV000000617 rs62514891 CA114360 RCV000088868 |
1 | M>V | Phenylketonuria Hyperphenylalaninemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1592991243 RCV000993594 |
5 | V>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001109152 rs1878414153 |
8 | N>T | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1346707834 RCV000850222 |
11 | L>* | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1878413079 RCV001920097 |
13 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000993595 rs1592991220 |
13 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592991196 RCV000993596 |
15 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000088944 CA229574 RCV000153638 rs62642906 |
15 | L>* | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001109151 rs1319374413 |
15 | L>H | Phenylketonuria [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs62642946 RCV000993613 VAR_000869 RCV000088937 CA229564 |
16 | S>P | Phenylketonuria PKU; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1592991188 RCV000993598 |
16 | S>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000993597 rs1592991184 |
17 | D>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592991176 RCV000993599 |
17 | D>* | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199475585 RCV000088993 CA229635 RCV000169450 |
20 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199475688 RCV000089006 CA229651 RCV000993618 |
20 | Q>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000088998 rs199475662 CA229641 RCV000993617 VAR_009239 |
20 | Q>L | Phenylketonuria Phenylketonuria (pku) HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs199475662 RCV000993600 |
20 | Q>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
rs753466976 RCV001896984 |
21 | E>D | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199565868 RCV000664768 RCV002265840 |
22 | T>K | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000529284 rs539994406 CA6749047 |
24 | Y>C | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1355039694 RCV001980503 |
25 | I>T | Phenylketonuria [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001279868 rs768048739 |
35 | I>M | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000210792 CA357242 rs869312996 |
37 | L>P | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000088764 CA229354 RCV000993603 rs199475674 |
38 | I>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs62642926 RCV000000636 RCV000078504 VAR_000870 CA251537 |
39 | F>L | Phenylketonuria Phenylketonuria (pku) HPA and PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199475565 RCV000169302 CA229364 RCV000186077 |
39 | F>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_000871 | 39 | F>del | PKU; haplotypes 9,21 [UniProt] | Yes | UniProt |
|
VAR_000872 CA229393 rs62642938 RCV000088797 |
40 | S>L | Variant assessed as Somatic; MODERATE impact. PKU [NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs62642928 VAR_000873 RCV000697659 RCV000088803 CA229401 |
41 | L>F | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001093507 RCV000088809 rs62642916 VAR_009240 CA229408 |
41 | L>P | Phenylketonuria Phenylketonuria (pku) PKU; mild [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA229419 VAR_000874 RCV000993605 RCV000088819 rs62635346 |
42 | K>I | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 21 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002019669 rs62635346 |
42 | K>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667507 rs1555209578 |
42 | K>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2136728245 RCV001895010 |
43 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000673220 rs1555209575 |
43 | E>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475628 RCV000088833 CA229435 RCV000666206 |
44 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1592988883 RCV000993626 VAR_067994 |
45 | V>A | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
rs1878255139 RCV001247948 |
45 | V>F | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA229440 RCV000993607 RCV000088837 rs199475591 |
46 | G>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000758110 rs74603784 |
46 | G>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000088836 VAR_000875 CA229439 rs74603784 RCV002512613 RCV000000661 |
46 | G>S | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) PKU; haplotype 5; significantly reduces phenylalanine binding [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_000876 CA114370 RCV000000662 rs118203925 RCV001200011 RCV000088839 |
47 | A>V | Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia non-PKU HPA; haplotype 4; significantly reduces phenylalanine binding [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000078511 RCV002512612 RCV000000639 RCV003421890 CA251539 rs5030841 VAR_000877 |
48 | L>S | PAH-related condition Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) PKU; mild; haplotypes 3,4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1878253465 RCV001995430 |
49 | A>V | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000106392 rs281865165 CA267691 |
52 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001389300 RCV000088840 CA229443 rs199475630 |
52 | L>S | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199475619 RCV002281929 CA229445 RCV000664566 RCV000088841 |
53 | R>C | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_000878 RCV000088842 rs118092776 RCV003398704 RCV000490373 CA229447 RCV001175359 |
53 | R>H | PAH-related condition Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199475619 RCV001990771 |
53 | R>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA229448 RCV000669099 RCV000088843 rs199475677 |
54 | L>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000000642 rs199475566 CA251540 RCV000078513 |
55 | F>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002251964 RCV000078512 VAR_000879 RCV000150092 RCV000588067 CA273114 rs199475598 |
55 | F>L | Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia HPA and PKU; does not affect oligomerization; results in loss of substrate activation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000106347 CA267639 rs281865438 |
55 | F>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002509217 CA229450 rs199475631 RCV000088844 |
55 | F>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1878251285 RCV001252102 |
56 | E>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001543635 RCV000088852 rs199475567 CA229459 VAR_000880 |
56 | E>D | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA267642 RCV000106349 rs140945592 |
57 | E>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000993627 rs1592979013 |
57 | E>* | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000721179 CA220578 RCV000078515 rs140945592 |
57 | E>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA229468 RCV000758114 RCV000088858 rs199475672 |
59 | D>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000758107 RCV003235382 rs199475672 |
59 | D>V | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000088857 rs199475635 CA229466 RCV002259585 |
59 | D>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592978992 RCV000993629 |
61 | N>* | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001389299 rs199475651 CA229470 VAR_067995 RCV000088859 |
61 | N>D | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000088860 RCV000106350 CA229471 rs199475634 CA267644 RCV001199974 |
61 | N>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2136702181 RCV002029638 |
61 | N>S | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1592978986 RCV000993628 |
62 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001093519 rs1877437661 VAR_067996 |
62 | L>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV000758095 rs1565866640 |
62 | L>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000993631 rs1592978950 |
63 | T>* | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA229473 RCV000088861 rs199475568 RCV000758120 |
63 | T>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001559695 VAR_000881 rs1877437047 RCV001247911 |
63 | T>PN | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1; abolishes phenylalanine binding [ClinVar, Ensembl, UniProt] | Yes |
ClinVar Ensembl dbSNP UniProt |
|
CA229477 rs672601294 RCV000088863 RCV001269036 RCV000993630 |
64 | H>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP ClinGen |
|
rs199475569 RCV000758122 RCV000088862 CA229475 |
64 | H>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758100 RCV000088865 VAR_000882 rs75193786 CA229479 |
65 | I>N | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_067997 CA229480 rs75193786 RCV000088866 |
65 | I>S | Phenylketonuria (pku) PKU; results in disturbed oligomerization; results in loss of substrate activation [Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000883 CA251544 RCV003398402 RCV000078516 rs75193786 RCV002251847 RCV000000668 |
65 | I>T | Phenylketonuria PAH-related condition Phenylketonuria (pku) PKU; haplotypes 1,5,9,21,B; abolishes phenylalanine binding [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000803656 RCV000088864 rs199475643 VAR_067998 CA229478 |
65 | I>V | Phenylketonuria HPA and PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002260503 rs2136702049 |
66 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865454 RCV000106351 CA267645 |
66 | E>* | Variant assessed as Somatic; HIGH impact. Phenylketonuria Phenylketonuria (pku) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs281865454 RCV002260502 |
66 | E>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003328729 rs5030842 |
67 | S>A | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001365715 rs2136702072 COSM1561881 |
67 | S>C | Phenylketonuria Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV001260324 CA229481 VAR_000884 RCV000088867 rs5030842 |
67 | S>P | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA229484 rs199475639 RCV001543636 RCV000088870 |
68 | R>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs76394784 VAR_000885 RCV000078517 CA273113 RCV003398669 RCV000150091 |
68 | R>S | Phenylketonuria PAH-related condition Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs281865431 RCV000106352 CA267647 |
69 | P>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs199475678 RCV000088871 RCV003315609 CA229486 COSM1476050 |
69 | P>S | Phenylketonuria Variant assessed as Somatic; MODERATE impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA229490 RCV000411181 RCV000088875 rs62642094 |
70 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000993632 rs1592978901 |
70 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001269066 rs1877434368 |
70 | S>F | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000088874 rs63048261 CA229488 RCV002259586 |
70 | S>P | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2136701994 RCV001806349 |
71 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003407486 RCV000088876 RCV000672919 rs62508695 COSM3792110 CA286499 |
71 | R>H | PAH-related condition Phenylketonuria Variant assessed as Somatic; MODERATE impact. urinary_tract Phenylketonuria (pku) [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001994069 rs62508695 |
71 | R>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002254727 rs2136701938 |
72 | L>Y | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565866547 RCV000758118 |
75 | D>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs767453024 RCV001269068 |
75 | D>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767453024 RCV000805522 |
75 | D>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1565866547 RCV000758113 |
75 | D>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000590560 CA16020752 rs762949770 |
76 | E>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001389298 RCV000088877 VAR_000886 CA229492 rs62507347 |
76 | E>A | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000672628 VAR_067999 RCV000000671 CA114373 RCV000088878 rs62507347 |
76 | E>G | Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia non-PKU HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000088879 RCV003479001 rs62507332 CA229493 |
77 | Y>* | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2136701879 RCV001981528 COSM1358238 |
78 | E>D | Phenylketonuria Variant assessed as Somatic; MODERATE impact. large_intestine Phenylketonuria (pku) [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV000088880 rs62507326 CA229495 RCV001857429 COSM1706145 |
78 | E>K | Phenylketonuria skin Phenylketonuria (pku) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs62507326 RCV001093502 |
78 | E>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1877431301 RCV001093503 |
78 | E>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000088882 RCV001269056 CA229499 rs63749677 |
81 | T>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000988899 rs1592978816 |
81 | T>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796064502 CA275937 RCV000190376 |
81 | T>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192889 rs62509017 CA229497 RCV000088881 |
81 | T>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs62514902 CA229500 RCV000088883 VAR_000887 RCV000761308 |
84 | D>Y | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1877430029 RCV001199993 |
85 | K>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000763293 RCV000088884 CA114359 RCV000000613 rs62516151 VAR_000888 RCV002512609 |
87 | S>R | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) Hyperphenylalaninemia non-PKU HPA; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000088886 rs62507270 RCV001857430 CA229501 |
89 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000667411 rs62506950 CA229503 RCV000088887 |
90 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1592978760 RCV000993633 |
90 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA229504 RCV000088888 rs62514903 VAR_000889 RCV001854512 |
92 | T>I | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000673537 RCV000088889 CA229505 rs62508677 |
94 | I>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001114785 RCV003226435 rs528078207 |
94 | I>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_000890 | 94 | I>del | PKU; mild; haplotype 2 [UniProt] | Yes | UniProt |
|
CA251535 RCV000000635 rs62508727 RCV000078518 |
95 | I>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000763292 rs62508682 CA229507 RCV000088890 |
95 | I>F | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000106353 CA267649 RCV003390792 rs281865432 |
95 | I>T | Phenylketonuria PAH-related condition Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002265754 CA6748987 RCV000430873 RCV000664524 rs142516271 |
97 | I>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000675074 RCV003323344 rs62517167 RCV000088892 CA114368 RCV000000659 VAR_000891 |
98 | L>S | Phenylketonuria Mild non-PKU hyperphenylalanemia Phenylketonuria (pku) non-PKU HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000993634 rs1592978725 |
98 | L>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001975307 rs2136701651 |
99 | R>G | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000370322 RCV002272209 RCV001290651 CA6748985 rs148393887 RCV002520783 |
100 | H>R | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555207979 RCV000669377 |
101 | D>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000088894 RCV001580454 rs62508591 CA229511 |
102 | I>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000669128 rs752792040 |
103 | G>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001941587 rs2136701578 |
103 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs752792040 RCV000667147 |
103 | G>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA229515 RCV000088896 rs62642929 VAR_000892 RCV000349567 |
104 | A>D | Phenylketonuria Phenylketonuria (pku) PKU; mild; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs398123291 CA220580 RCV000721174 RCV000078519 |
104 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs542645236 RCV002038848 |
107 | H>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs542645236 CA354151 RCV000210807 |
107 | H>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001269078 rs1877424058 |
108 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410526 CA16041561 rs1057516389 |
110 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_009241 | 110 | S>C | HPA [UniProt] | Yes | UniProt |
|
rs199475627 RCV000088897 RCV002259587 CA229516 |
110 | S>L | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000000611 RCV000088898 rs76296470 CA251526 |
111 | R>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000088899 CA229518 rs199475648 RCV001175457 |
115 | K>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000668153 rs1555207969 |
115 | K>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592978629 RCV000851537 |
116 | D>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000106355 rs281865428 CA267653 |
117 | T>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs281865439 RCV000106354 CA267651 |
117 | T>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6748965 rs374999809 RCV002519074 RCV000385558 |
119 | P>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs398123292 RCV000790751 RCV000178066 CA220582 |
119 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000178065 rs794727619 CA275242 RCV000724124 |
120 | W>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs199475586 CA229522 RCV001199994 RCV000088903 |
120 | W>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_069776 | 121 | F>L | HPA [UniProt] | Yes | UniProt |
|
RCV000758109 rs1565859485 |
121 | F>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001093504 rs1876627337 |
121 | F>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001245954 rs1876626818 |
122 | P>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199475622 CA229524 RCV001384288 RCV000088904 |
122 | P>Q | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001269311 rs1466564208 |
122 | P>S | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000088905 rs199475681 RCV000666513 CA286501 |
123 | R>I | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199475571 RCV000088906 VAR_000893 CA229526 |
124 | T>I | PKU; haplotype 28 [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1876625601 RCV001093505 |
127 | E>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555206565 RCV000664540 |
127 | E>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475623 RCV000672629 RCV000088908 CA229527 |
129 | D>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001093517 rs199475623 RCV000088909 CA229529 |
129 | D>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199475606 CA286503 RCV000088907 RCV000811501 VAR_000894 |
129 | D>Y | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001964825 rs1876624286 |
131 | F>S | Phenylketonuria [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000088910 CA229531 RCV000531628 rs199475605 |
133 | N>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229534 RCV000088912 RCV000169559 rs199475680 |
134 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000088914 rs199475572 VAR_000895 RCV001209954 CA229538 |
143 | D>G | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 11 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs199475572 RCV002014138 |
143 | D>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
rs1375045653 RCV002045342 |
145 | D>E | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA229539 VAR_011566 RCV000088915 RCV000546355 RCV002251980 rs140175796 |
145 | D>V | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000088916 VAR_000896 rs199475599 CA229540 |
146 | H>Y | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000595460 CA229543 rs199475694 RCV000088918 |
147 | P>L | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000674963 RCV000088917 rs199475624 CA229541 |
147 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001093513 rs1555205655 |
148 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001093506 rs80297647 |
148 | G>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
VAR_000897 rs80297647 RCV001053534 CA229551 RCV000088928 |
148 | G>S | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 1,2,7 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1555205655 RCV000667958 |
148 | G>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000088930 VAR_000898 rs199475597 CA229553 |
151 | D>H | PKU; haplotypes 1,8 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001269276 rs1191473722 |
154 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001543644 rs1565853526 |
154 | Y>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1565853526 RCV000759178 RCV001093514 |
154 | Y>F | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001093509 rs199475587 CA229557 RCV000088933 |
154 | Y>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000088932 RCV001093515 VAR_000899 CA229556 rs199475587 |
154 | Y>N | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001269080 rs1875984331 |
155 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2136663420 RCV002260501 |
155 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs539743701 RCV000669560 |
155 | R>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000632881 RCV000088934 rs199475663 CA229559 |
155 | R>H | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000675156 rs199475663 VAR_009242 RCV000088935 CA229561 |
155 | R>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002008996 rs570748767 |
156 | A>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes TOPMed dbSNP |
|
rs199475686 CA229562 RCV000088936 RCV003479002 |
156 | A>P | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs570748767 RCV001979309 |
156 | A>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes TOPMed dbSNP |
|
CA229567 RCV000088939 RCV002513933 rs199475611 |
157 | R>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565853495 RCV000721919 VAR_000900 |
157 | R>N | Phenylketonuria PKU; severe; 5% activity; requires 2 nucleotide substitutions [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
VAR_068000 rs199475612 RCV000088940 CA229569 |
157 | R>S | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs199475611 RCV000758125 |
157 | R>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000758092 RCV000088942 CA229571 rs5030843 |
158 | R>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000618 COSM5802961 RCV000078522 CA251530 VAR_000901 rs5030843 RCV003415608 |
158 | R>Q | PAH-related condition Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) PKU; haplotypes 1,2,4,7,16, 28 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000409986 RCV000088941 CA229570 rs75166491 COSM4710842 VAR_000902 |
158 | R>W | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) PKU [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA229573 RCV000088943 VAR_000903 rs199475601 |
160 | Q>P | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000088945 CA229575 VAR_000904 RCV000674841 rs79635844 |
161 | F>S | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA229578 VAR_000905 RCV002514543 rs199475595 RCV000088947 |
164 | I>T | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199475647 CA229576 RCV003114254 RCV000535090 RCV000088946 RCV002251981 |
164 | I>V | Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000993635 rs1592961381 |
165 | A>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000672775 RCV000088949 rs199475626 CA229581 |
165 | A>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000993614 RCV000088948 rs199475626 CA229579 |
165 | A>T | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000410899 CA16020801 CA229583 rs199475645 RCV000993615 RCV000088950 |
166 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs77554925 CA220584 VAR_000906 RCV000412232 RCV000078523 |
167 | N>I | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000088951 CA229585 RCV000148722 rs77554925 VAR_011567 |
167 | N>S | Phenylketonuria Phenylketonuria (pku) HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001375887 rs1210056131 |
167 | N>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000375882 RCV000088953 CA229588 rs199475661 |
168 | Y>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA267656 rs281865455 RCV000106358 |
168 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM1706144 CA267693 RCV000111461 rs281865440 |
169 | R>C | Phenylketonuria skin Phenylketonuria (pku) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000666071 rs281865440 |
169 | R>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002515783 RCV000311018 RCV001530926 CA286505 VAR_011568 rs199475679 RCV000088954 |
169 | R>H | Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Inborn genetic diseases Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA386299458 rs199475679 RCV000515792 |
169 | R>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs281865440 RCV001199992 |
169 | R>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199475655 CA273111 VAR_011569 RCV000078524 RCV000150088 |
170 | H>D | Phenylketonuria Phenylketonuria (pku) HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001986924 rs199475573 RCV003402026 |
170 | H>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475652 CA229597 RCV001215065 RCV001048510 VAR_068001 RCV000088963 |
170 | H>Q | Phenylketonuria Phenylketonuria (pku) PKU; does not affect oligomerization [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt ExAC TOPMed dbSNP gnomAD ClinGen |
|
rs199475573 RCV000088959 CA229593 VAR_000907 |
170 | H>R | Phenylketonuria (pku) PKU [Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199475596 RCV003474692 VAR_000908 RCV000088965 CA229599 |
171 | G>A | Phenylketonuria PKU; haplotype 1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000560269 rs199475613 RCV000088964 RCV001897836 VAR_000909 CA229598 |
171 | G>R | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt ExAC dbSNP gnomAD ClinGen |
|
rs199475588 RCV001238801 RCV000088966 CA229600 |
172 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001574524 RCV003243346 RCV001048823 rs192592111 RCV000822749 |
172 | Q>H | Inborn genetic diseases Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_000910 RCV000088967 CA229602 rs199475574 |
173 | P>T | PKU; haplotype 4 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000088969 CA229604 RCV000993616 VAR_000911 rs138809906 |
174 | I>T | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
VAR_011570 CA229603 RCV000675155 rs199475632 RCV000088968 |
174 | I>V | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA229605 rs199475604 RCV001093516 VAR_000912 RCV000088970 |
175 | P>A | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000671178 rs199475604 |
175 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475575 RCV000179282 CA275338 RCV000088971 |
176 | R>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001280536 RCV000088974 RCV002251846 RCV000000663 VAR_000913 rs74486803 COSM1188584 RCV000346024 CA114371 RCV002512614 |
176 | R>L | lung Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Inborn genetic diseases Phenylketonuria (pku) Hyperphenylalaninemia non-PKU HPA and PKU [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000088973 RCV001854513 CA229608 VAR_000914 rs74486803 |
176 | R>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs74486803 RCV000810165 CA229606 RCV000088972 |
176 | R>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199475602 RCV000088976 CA229610 RCV000669836 VAR_000915 RCV003390790 |
177 | V>L | PAH-related condition Phenylketonuria Phenylketonuria (pku) PKU; haplotype 6 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199475602 VAR_068002 RCV000589313 RCV000088975 CA229609 RCV000534379 |
177 | V>M | Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA273110 VAR_000916 RCV000150087 rs77958223 RCV000078526 |
178 | E>G | Phenylketonuria Phenylketonuria (pku) non-PKU HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001375893 rs1448720360 RCV001193452 |
178 | E>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA229615 RCV001778707 RCV000088979 rs199475671 |
179 | Y>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA229613 RCV000721182 RCV000088978 rs199475671 |
179 | Y>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1875373366 RCV001279864 |
180 | M>V | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475617 COSM78257 RCV001248714 CA229617 RCV000088980 |
182 | E>G | ovary Phenylketonuria large_intestine Phenylketonuria (pku) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
COSM3416399 rs2136649777 RCV001389170 |
182 | E>K | Phenylketonuria Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV001223829 rs199475664 |
183 | E>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001269060 rs1875372846 |
183 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA267658 RCV000106359 rs281865433 |
183 | E>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_009243 RCV000088981 rs199475664 CA229619 |
183 | E>Q | Phenylketonuria (pku) PKU [Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1875371722 RCV001269051 |
184 | K>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA229620 RCV000088982 rs62507328 RCV000586383 |
186 | T>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1875371404 RCV002047826 |
186 | T>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000412455 CA229621 RCV000088983 rs62517207 |
187 | W>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229624 RCV000169529 rs62507336 RCV000088985 |
187 | W>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA229626 RCV000668474 RCV000088986 rs62507336 |
187 | W>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA229622 rs62507272 RCV000671079 RCV000088984 |
187 | W>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001389168 rs62507260 CA229630 RCV000088988 |
188 | G>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000088987 rs199475689 RCV000674846 CA229628 |
188 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2136649680 RCV002018434 |
188 | G>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475689 RCV001375884 |
188 | G>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
VAR_000917 RCV000632878 CA229631 RCV000088989 rs62514919 |
190 | V>A | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs281865441 RCV000106360 CA267660 |
190 | V>M | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2136649605 RCV001388660 |
191 | F>* | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000088990 CA229632 RCV000169180 rs62508587 |
194 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229633 RCV000088991 rs5030844 RCV000411842 VAR_000918 |
194 | L>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001269063 rs62895363 RCV000088992 CA229634 |
196 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001269337 rs1875368328 |
196 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_069777 rs865899394 RCV000672941 |
196 | S>Y | Phenylketonuria Phenylketonuria (pku) HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt dbSNP gnomAD |
|
RCV000850223 rs886042078 |
197 | L>* | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000106361 CA267662 rs281865442 |
197 | L>F | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000088996 rs63749676 CA229639 RCV001269062 |
198 | Y>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002514544 CA229638 RCV000088995 rs199475697 RCV000587795 |
198 | Y>missing | Phenylketonuria Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000088997 CA229640 RCV001789758 rs62508643 |
200 | T>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2136649547 RCV002260488 |
200 | T>N | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001951415 rs751977644 |
201 | H>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000089002 RCV000806196 rs62517180 VAR_000922 CA229644 |
201 | H>R | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_000923 CA229643 RCV000588479 RCV000509208 rs62517205 RCV000089001 |
201 | H>Y | Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia non-PKU HPA; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs2136649533 RCV001789810 |
202 | A>V | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1875366372 RCV001269076 |
203 | C>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001543658 RCV000089004 rs1801147 CA229647 |
203 | C>W | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001543657 rs62507271 RCV000089003 CA229645 |
203 | C>Y | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555204711 RCV000666269 |
204 | Y>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs62514928 RCV000089008 CA229654 RCV000686246 |
204 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000621 CA229653 rs62514927 VAR_000924 RCV000089007 |
204 | Y>C | Phenylketonuria Phenylketonuria (pku) PKU; mild; haplotypes 3,4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs62508593 VAR_011571 RCV000089010 CA229658 |
205 | E>A | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002000227 rs765552494 |
205 | E>D | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001986456 rs62508593 |
205 | E>G | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA229656 RCV001071178 RCV000089009 rs63083560 |
205 | E>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229662 rs62517201 RCV000089013 RCV000672692 RCV000578371 |
206 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD ClinGen |
|
RCV000089012 RCV000666489 CA229660 rs62508728 |
206 | Y>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_000925 CA229659 rs62517170 RCV000089011 |
206 | Y>D | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA229664 VAR_000926 RCV000089014 rs62508572 |
207 | N>D | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000089015 COSM1605462 rs62508721 CA229665 VAR_000927 RCV000668775 |
207 | N>S | Phenylketonuria liver Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) PKU; severe; haplotype 4 [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000089017 RCV000411734 CA229667 rs62514929 |
211 | P>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA267667 rs281865443 RCV000106364 |
211 | P>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002022060 rs281865443 |
211 | P>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001192748 RCV000411219 RCV000089016 CA229666 rs62514931 VAR_000928 |
211 | P>T | Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs62517198 RCV000089018 RCV000671113 VAR_000929 CA229668 |
212 | L>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA386296662 RCV000493939 RCV000672958 rs1131691945 |
213 | L>F | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000078527 rs62516109 VAR_000930 CA273109 RCV000150086 |
213 | L>P | Phenylketonuria Phenylketonuria (pku) PKU; severe [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs62509013 RCV000179283 CA229669 RCV000089019 |
216 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs62508718 CA229673 RCV001789759 VAR_000931 RCV000089021 |
217 | C>G | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000089020 CA229671 rs62508718 RCV000664975 |
217 | C>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000089022 rs62508617 RCV000758101 CA229674 |
217 | C>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000089023 RCV003390791 CA229676 VAR_000932 rs62514933 RCV000705590 |
218 | G>V | Phenylketonuria PAH-related condition Phenylketonuria (pku) PKU; haplotypes 1,2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001200012 rs1164279708 |
219 | F>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1592954413 RCV001200013 |
220 | H>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62514936 RCV000119778 RCV000169088 CA229678 |
221 | E>* | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000089024 VAR_000933 rs62514934 CA229677 RCV000000640 |
221 | E>G | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs2136649314 RCV001974909 COSM3455202 |
221 | E>K | Phenylketonuria Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV001992017 rs1263259211 |
222 | D>E | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP |
|
rs62507319 RCV001381395 RCV000089026 CA229679 |
222 | D>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_000934 RCV001789760 CA229681 RCV000089027 rs62507319 |
222 | D>V | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 3,4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs201245932 RCV000664486 RCV003420168 |
223 | N>I | PAH-related condition Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002260492 rs2136649290 |
223 | N>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
CA229684 VAR_000935 rs199475576 RCV000089029 |
224 | I>M | PKU; haplotype 4 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000089028 CA229682 RCV001261644 rs62507323 |
224 | I>T | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229686 RCV001543660 rs199475589 RCV000089031 |
225 | P>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001200014 rs62517204 |
225 | P>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
VAR_000936 rs62517204 CA229688 RCV000089032 |
225 | P>R | Phenylketonuria (pku) PKU [Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs199475589 CA229685 RCV000673267 RCV000089030 VAR_000937 |
225 | P>T | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs2136649263 RCV001375885 |
226 | Q>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs62508696 RCV000089033 CA229689 RCV001200001 |
226 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_068003 RCV000089034 rs62508615 RCV001854514 CA229691 |
226 | Q>H | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ExAC gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV001199975 rs62508696 |
226 | Q>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs2136649239 RCV001789821 |
227 | L>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001375897 rs2136649242 |
227 | L>V | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001269044 rs281865444 |
228 | E>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001375898 rs2136649225 |
228 | E>D | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA267669 RCV003398707 RCV000106365 COSM3416398 rs281865444 |
228 | E>K | PAH-related condition Phenylketonuria Variant assessed as Somatic; MODERATE impact. large_intestine Phenylketonuria (pku) [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000699420 rs1565848110 |
229 | D>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199475673 RCV000673567 |
230 | V>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000089036 rs199475673 CA229692 RCV001789761 |
230 | V>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_000938 RCV000411829 CA286506 rs62516152 RCV003398705 RCV000089035 |
230 | V>I | PAH-related condition Phenylketonuria Phenylketonuria (pku) non-PKU HPA and PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001269079 rs1875354018 |
231 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009244 RCV001857431 CA229695 RCV000089038 rs62508577 |
231 | S>F | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA229694 rs5030845 VAR_000939 RCV000190611 RCV000089037 |
231 | S>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000089039 rs62507348 CA229696 RCV000169464 |
232 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001079304 rs1126758 RCV000089040 CA229698 |
232 | Q>= | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs62507348 RCV000758123 |
232 | Q>E | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1565848061 RCV000758127 |
233 | F>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001789820 RCV000089041 RCV002259588 rs62517208 CA229699 VAR_000940 |
233 | F>L | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 2,3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1237792711 RCV002260490 |
235 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1237792711 RCV001897774 |
235 | Q>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs199475656 RCV000089042 CA229700 RCV002259589 |
235 | Q>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758131 rs199475577 |
238 | T>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000089047 rs199475577 VAR_000941 RCV000672442 CA229705 |
238 | T>P | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000089050 CA229709 RCV002514545 rs62507283 |
239 | G>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001857432 rs62507283 RCV000089049 CA229707 |
239 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000089048 CA229706 rs62517178 VAR_000942 |
239 | G>S | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA229711 RCV001215843 rs62507283 RCV000089051 |
239 | G>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002259590 CA229715 rs62508594 RCV000089053 VAR_011572 |
240 | F>S | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000667600 CA229713 RCV002514546 RCV000089052 rs62507337 |
240 | F>V | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000089057 RCV000169560 rs199475657 RCV000454199 CA645372919 CA229717 |
241 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002271852 rs2136646367 |
241 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000089054 VAR_000943 CA273357 RCV000153635 COSM4038087 rs76687508 |
241 | R>C | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) non-PKU HPA and PKU; haplotype 34 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_000944 RCV000576386 rs62508730 RCV003343638 RCV000089055 CA286507 |
241 | R>H | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) PKU; haplotypes 1,5 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000089056 RCV000688713 VAR_000945 rs62508730 CA229716 |
241 | R>L | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs76687508 RCV002005780 |
241 | R>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000411222 VAR_000946 CA229718 RCV000089058 rs199475578 |
242 | L>F | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM79010 RCV003407250 CA220585 RCV000078528 rs5030846 RCV002512610 RCV000000619 |
243 | R>* | Variant assessed as Somatic; HIGH impact. ovary Phenylketonuria PAH-related condition large_intestine Inborn genetic diseases Phenylketonuria (pku) [NCI-TCGA, Cosmic, ClinVar, Ensembl] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001543659 rs62508588 CA229719 RCV000089060 |
243 | R>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000624337 RCV000000622 rs62508588 RCV000089059 CA251531 VAR_000947 |
243 | R>Q | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) non-PKU HPA and PKU; haplotypes 4,7,9 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000089061 VAR_000948 rs118203923 RCV000000652 CA229721 |
244 | P>L | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 12 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001789819 rs2136646392 |
244 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
VAR_000949 RCV002512615 CA114372 RCV000346938 RCV000089065 RCV000000664 rs76212747 |
245 | V>A | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) Hyperphenylalaninemia PKU, HPA and non-PKU HPA; haplotypes 3,7 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000632879 VAR_000950 RCV000089064 CA229725 rs76212747 |
245 | V>E | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 11 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000951 RCV000089063 RCV000340479 CA229724 rs62508694 |
245 | V>L | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs62508694 RCV002259591 CA229722 RCV000089062 |
245 | V>M | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199475666 RCV000089069 CA229729 RCV000543254 |
246 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
VAR_000952 CA229726 rs199475610 RCV000089067 RCV002259592 |
246 | A>D | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000673258 RCV000089068 CA229727 rs199475610 |
246 | A>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001375886 rs2136646337 |
247 | G>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199475579 RCV000758103 RCV000089072 CA229734 |
247 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000668140 rs62508731 CA229732 RCV000089071 |
247 | G>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62508731 CA229730 COSM691581 RCV000758094 RCV000089070 |
247 | G>S | lung Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [Cosmic, ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA229736 rs199475579 RCV000169396 RCV000089073 VAR_000953 |
247 | G>V | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000089074 rs62507340 CA229737 RCV002259593 VAR_000954 |
248 | L>P | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002259594 rs62507340 CA229738 RCV000089075 |
248 | L>R | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410522 CA16020850 rs1057516914 |
249 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000089076 CA273356 VAR_000955 rs74503222 RCV000153634 |
249 | L>F | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs62507338 RCV000089077 CA229740 RCV002259595 |
249 | L>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001375906 rs2136646301 |
252 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2136646297 RCV002260489 |
252 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000089078 CA229742 VAR_000956 rs5030847 RCV000674327 |
252 | R>G | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 7 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001199976 rs62644503 |
252 | R>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
rs62644503 CA229743 VAR_000957 RCV000089080 RCV000179742 |
252 | R>Q | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
VAR_000958 rs5030847 RCV000089079 RCV002251844 RCV000000614 CA057308 RCV000201954 CA251529 |
252 | R>W | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 1,6,7,8,42, 69; complete loss of activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000984203 RCV000484615 rs765533320 CA6748845 |
253 | D>N | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000000631 RCV000089083 rs62642930 CA229747 VAR_000960 |
255 | L>S | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 36 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs62642931 RCV000089082 CA229746 VAR_000959 |
255 | L>V | PKU; haplotypes 18,21 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA229750 RCV000089085 VAR_000961 rs5030848 |
257 | G>C | PKU [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000089087 RCV000668413 rs62642908 CA229753 |
257 | G>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565846899 RCV000758119 |
258 | L>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
CA229755 RCV000089088 rs62642932 VAR_000962 RCV000411173 |
259 | A>T | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000000633 CA229756 RCV000089089 VAR_000963 rs118203921 |
259 | A>V | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 7,42 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA229757 RCV000000641 COSM1298833 RCV000089090 rs5030850 |
261 | R>* | Phenylketonuria urinary_tract Phenylketonuria (pku) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs5030850 CA269921 RCV000119826 |
261 | R>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000709704 rs5030849 |
261 | R>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA229759 VAR_000964 RCV000089091 rs5030849 RCV000410877 |
261 | R>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1358231 RCV000000612 CA251528 rs5030849 VAR_000965 RCV000078530 |
261 | R>Q | Phenylketonuria large_intestine Phenylketonuria (pku) HPA and PKU; mild; haplotypes 1,2,4,22, 24,28 [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA267671 rs281865445 RCV000106366 |
262 | V>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001377752 CA229760 rs62642944 VAR_000966 RCV000758091 RCV000089092 |
263 | F>L | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000758097 rs1565846863 |
263 | F>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000409667 rs1057517009 CA16041559 |
264 | H>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs199475580 RCV000758099 VAR_000967 CA229761 RCV000089093 |
264 | H>L | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001224584 rs199475580 |
264 | H>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1231529155 RCV001199984 |
265 | C>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002259596 VAR_000968 RCV000089094 rs62517181 CA229762 |
265 | C>G | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002260497 rs62517181 |
265 | C>R | Phenylketonuria [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000089095 RCV000810805 CA229763 rs62507335 |
265 | C>Y | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854515 CA229765 rs62508752 RCV000089096 |
266 | T>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs62508752 RCV000106367 CA267673 |
266 | T>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1875230062 RCV001221995 |
267 | Q>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000823427 rs199475676 |
267 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475676 RCV000089098 RCV000758126 CA229769 |
267 | Q>E | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199475675 RCV000758096 RCV000089099 CA229771 |
267 | Q>H | Variant assessed as Somatic; MODERATE impact. Phenylketonuria Phenylketonuria (pku) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ExAC NCI-TCGA gnomAD ClinGen ClinVar dbSNP |
|
rs778154939 RCV000210763 CA354145 |
267 | Q>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000672289 rs778154939 |
267 | Q>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs748337823 RCV001269081 |
268 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000758130 rs1565846805 |
268 | Y>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000758117 CA229773 rs62507263 RCV000089100 |
268 | Y>H | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000089103 CA229778 rs62508687 RCV000153633 |
269 | I>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs62508692 RCV000089101 RCV000281383 VAR_000969 CA229775 |
269 | I>L | Phenylketonuria Phenylketonuria (pku) non-PKU HPA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs199475644 RCV000763291 CA229776 RCV000089102 |
269 | I>N | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002031543 rs62508692 |
269 | I>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA229781 rs62514950 RCV000153632 VAR_000970 RCV000089105 |
270 | R>K | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_000971 CA229782 RCV000089106 rs62514951 RCV003323400 |
270 | R>S | Phenylketonuria PKU; haplotype 1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV003479003 RCV000089107 CA229783 rs62507286 |
271 | H>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs199475692 CA267675 RCV000106368 |
271 | H>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000758104 rs1565846764 |
271 | H>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475692 RCV000089109 CA286508 RCV000758132 |
271 | H>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_000972 rs62517164 RCV002287367 RCV000758116 CA229784 RCV000089108 |
271 | H>Y | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000627 rs62514952 RCV000089110 CA251532 |
272 | G>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000000629 CA229785 RCV000089111 VAR_000973 rs62514953 |
273 | S>F | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 7 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1565846754 RCV000758093 |
273 | S>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
CA229788 RCV001200000 RCV000089113 rs199475581 |
274 | K>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000148723 RCV000089112 CA229786 VAR_011573 rs142934616 |
274 | K>E | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1875223959 RCV001252100 RCV003382491 |
274 | K>R | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000670910 VAR_068004 CA229793 RCV000089116 rs62508715 |
275 | P>L | Phenylketonuria Phenylketonuria (pku) PKU; reduced activity; increased affinity for the substrate; mildly reduced substrate activation; decreased cofactor affinity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000089115 RCV000672381 CA229791 rs62508715 |
275 | P>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA229789 RCV000672603 rs62508691 RCV000089114 |
275 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs62514954 VAR_000974 CA229799 RCV001543637 RCV000089120 RCV000666601 |
276 | M>I | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000089118 CA229795 RCV000758121 rs62508722 |
276 | M>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs62508722 CA229797 RCV000089119 RCV001375900 |
276 | M>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_000975 CA229794 RCV000664652 RCV000089117 rs62516149 |
276 | M>V | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000976 RCV000411640 CA229800 rs62516155 RCV000089121 |
277 | Y>C | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000000634 rs78655458 VAR_000977 CA251534 RCV000078531 |
277 | Y>D | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001506975 rs2136646052 |
278 | T>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs62516156 VAR_000978 CA229801 RCV000089122 RCV001789762 |
278 | T>A | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000089124 CA229803 RCV000672785 rs62507262 |
278 | T>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62507262 CA229802 RCV000665406 RCV000089123 VAR_000979 |
278 | T>N | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001199979 rs62507262 |
278 | T>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555204441 RCV000551613 CA386294536 |
279 | P>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2136646020 RCV002260486 |
279 | P>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
COSM143497 rs796064503 CA275939 RCV000190377 |
279 | P>L | Phenylketonuria Variant assessed as Somatic; MODERATE impact. skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA267677 RCV000106369 rs281865429 |
280 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs199475653 CA229810 RCV000089128 RCV003479004 |
280 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000089127 rs62508734 CA229808 RCV000632877 |
280 | E>G | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000000610 CA251525 rs62508698 RCV002512608 RCV000078532 VAR_000980 RCV003162201 COSM2063927 |
280 | E>K | Phenylketonuria Variant assessed as Somatic; MODERATE impact. central_nervous_system Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Inborn genetic diseases Phenylketonuria (pku) PKU; haplotypes 1,2,4,16,38; partial residual activity [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000089125 CA229805 RCV001857433 rs62508698 |
280 | E>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA267678 RCV000106370 rs199475654 |
281 | P>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001814820 rs5030851 |
281 | P>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000981 RCV000078534 RCV000000620 rs5030851 CA220589 RCV001265833 |
281 | P>L | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) PKU; haplotypes 1,4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001972840 rs5030851 |
281 | P>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA220587 RCV000721177 rs199475654 RCV000078533 |
281 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000089136 RCV002514547 CA229818 rs199475660 |
282 | D>G | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000411380 CA229817 RCV000089135 rs199475582 VAR_000982 |
282 | D>N | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_000983 RCV000169005 rs62517168 RCV000089137 CA229820 |
283 | I>F | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 21 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs62508693 CA229821 VAR_000984 RCV000758133 RCV000089138 |
283 | I>N | Phenylketonuria Phenylketonuria (pku) PKU; severe [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001375899 rs62517168 |
283 | I>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA229822 RCV001543638 rs199475682 RCV000089139 |
284 | C>R | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229824 RCV000089140 RCV001199999 rs199475636 |
285 | H>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000089141 CA229826 rs62508739 RCV000758134 COSM3455201 |
286 | E>K | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001379708 rs781096854 |
287 | L>M | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs781096854 RCV000758129 |
287 | L>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000089142 CA229828 RCV000758112 rs62507327 |
288 | L>F | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM4904541 CA229830 RCV000548849 CA386294434 rs199475693 RCV000089143 RCV000758136 |
289 | G>R | Variant assessed as Somatic; MODERATE impact. Phenylketonuria Phenylketonuria (pku) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000106371 rs62642919 CA267680 |
290 | H>L | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000674910 rs751203209 |
290 | H>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs62642919 CA229832 RCV001375907 RCV000089144 |
290 | H>R | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_067758 RCV000993602 rs1486763160 |
290 | H>Y | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) PKU [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs1875160008 RCV001199980 |
291 | V>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1200240274 RCV000768445 |
292 | P>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000700907 rs1565846198 RCV003352994 |
294 | F>I | Phenylketonuria Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000089145 rs62642910 RCV000993621 CA229834 COSM199873 |
295 | S>* | Variant assessed as Somatic; HIGH impact. Phenylketonuria large_intestine Phenylketonuria (pku) [NCI-TCGA, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA267682 rs281865446 RCV000106372 |
296 | D>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765934604 RCV000993639 |
296 | D>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001984332 rs765934604 |
296 | D>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000089146 RCV000993622 rs62642945 CA229836 VAR_000985 COSM934119 |
297 | R>C | Phenylketonuria Variant assessed as Somatic; MODERATE impact. endometrium Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs62642939 RCV000150085 RCV000078535 CA220590 VAR_000986 RCV000588535 |
297 | R>H | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) Hyperphenylalaninemia PKU [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000993640 rs62642939 |
297 | R>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000089148 rs62642933 VAR_000987 RCV000000644 CA251541 |
299 | F>C | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 8 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000190378 CA275941 rs796064504 |
299 | F>L | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000993623 RCV000089147 rs62507267 CA229837 |
299 | F>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001199998 rs62642933 |
299 | F>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000988 rs5030853 CA273108 RCV001267463 RCV000150084 RCV000590551 RCV000078536 |
300 | A>S | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) Hyperphenylalaninemia PKU and HPA; haplotype 1; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199475609 RCV000669088 CA229839 VAR_000989 RCV000089149 |
300 | A>V | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057520732 RCV000993641 |
301 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP |
|
rs1592952179 RCV000993643 |
301 | Q>H | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1592952183 RCV000993642 |
301 | Q>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62642920 CA229840 RCV000993624 RCV000089150 |
303 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000089152 RCV001543639 CA229842 rs199475608 |
303 | S>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199475608 RCV000993625 CA229841 RCV000089151 VAR_000990 |
303 | S>P | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 5 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000674358 rs1555204295 |
304 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001543641 rs1555204295 |
304 | Q>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
CA229844 VAR_000991 RCV001543640 rs199475592 RCV000089153 |
304 | Q>R | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000106377 rs281865456 CA267688 |
306 | I>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000000649 RCV000169485 CA114365 RCV000089157 VAR_000992 rs62642934 |
306 | I>V | Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia non-PKU HPA and PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2136639687 RCV001375905 |
307 | G>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002260494 rs2136639683 |
307 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000089159 RCV003474693 rs62642095 CA229851 |
308 | L>F | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000089160 CA229853 VAR_000993 RCV000668228 rs62642935 |
309 | A>D | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 7 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1205657950 RCV001970548 |
309 | A>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001789829 rs1205657950 |
309 | A>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000150082 CA220592 VAR_000994 RCV000078538 rs62642935 |
309 | A>V | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000089163 CA229856 RCV001240978 rs62651568 |
310 | S>* | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229855 RCV000552302 rs62642913 RCV000089162 VAR_000995 |
310 | S>F | Phenylketonuria PKU; haplotype 7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
VAR_068005 CA229854 rs62642913 RCV000089161 |
310 | S>Y | HPA; reduction in activity is probably due to a global conformational change in the protein that reduces allostery [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000106378 rs281865430 CA267689 |
311 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000000608 RCV000089164 CA251524 rs62642936 VAR_000996 |
311 | L>P | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 1,7,10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002260493 rs2136639639 |
312 | G>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763115697 CA386291684 RCV000515773 |
312 | G>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs62642915 RCV000089165 CA229857 RCV001269049 |
312 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003387922 rs763115697 RCV000758102 |
312 | G>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs62642915 RCV001972839 |
312 | G>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002014335 rs62642914 |
313 | A>E | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000089166 rs62642912 CA229859 RCV000669990 |
313 | A>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001857434 RCV002251982 RCV000089167 rs62642914 CA229861 |
313 | A>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002259597 CA229866 rs62642907 RCV000089170 |
314 | P>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs62642940 VAR_000997 RCV000089171 RCV000409567 CA229867 |
314 | P>H | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000758098 VAR_068006 CA229865 rs199475650 RCV000089169 |
314 | P>S | Phenylketonuria Phenylketonuria (pku) HPA; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA229863 RCV000672630 rs199475650 RCV000089168 |
314 | P>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001970975 rs1180470263 |
315 | D>E | Phenylketonuria [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001348880 rs1874873096 |
316 | E>V | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001974670 rs2136639547 |
317 | Y>C | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001269317 rs1874872863 |
317 | Y>H | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA229870 rs62642918 VAR_011574 RCV000089173 |
318 | I>T | PKU; partial loss of activity [UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA229871 RCV000089174 RCV000666332 rs199475615 |
320 | K>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA114363 RCV000675108 VAR_000998 RCV000000647 rs62514958 RCV002251845 RCV000089177 |
322 | A>G | Phenylketonuria Mild non-PKU hyperphenylalanemia Phenylketonuria (pku) PKU; haplotype 12 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000089176 VAR_000999 CA229875 RCV000797233 RCV002515784 rs62514957 |
322 | A>T | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM4038085 rs62514958 VAR_067759 |
322 | A>V | Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) PKU [NCI-TCGA, Ensembl, UniProt] | Yes |
NCI-TCGA Cosmic UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001199983 rs1874870478 |
323 | T>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000089178 rs199475618 RCV000587503 CA229876 |
323 | T>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1221031352 RCV001269315 |
324 | I>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs62508573 CA229885 RCV000410321 RCV000089187 |
325 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs62508578 CA220593 RCV000150081 RCV000078541 VAR_009245 |
325 | Y>C | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1874741770 RCV001200003 |
326 | W>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000000609 RCV000089188 rs62514959 CA229887 |
326 | W>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs62514959 RCV001789822 |
326 | W>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
rs199475642 CA229889 RCV001199991 RCV000089189 |
327 | F>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199475616 CA229891 RCV000089190 RCV001854516 |
328 | T>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886042096 CA10603804 RCV000721175 RCV000350174 |
328 | T>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001789818 rs886042096 |
328 | T>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
CA229893 rs62508580 RCV002513935 RCV000089191 VAR_009246 |
330 | E>D | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002515785 CA229895 RCV000089193 rs199475614 |
331 | F>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_001000 RCV000089192 rs62517179 COSM1706140 CA229894 |
331 | F>L | skin PKU; haplotype 1 [Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16020915 rs199475614 RCV000410352 |
331 | F>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002259565 RCV000089195 VAR_001001 rs62516060 RCV000000655 CA114366 |
333 | L>F | Phenylketonuria Hyperphenylalaninemia PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1344368175 RCV002260498 |
333 | L>P | Phenylketonuria [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA229263 rs62517174 RCV000088695 RCV001543646 VAR_001002 |
334 | C>S | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs886042068 RCV002259759 CA10603769 RCV000295704 |
335 | K>E | Phenylketonuria Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000106338 rs281865434 CA267623 |
335 | K>T | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229264 RCV000088696 rs62516061 RCV002259580 |
336 | Q>* | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001543647 CA229266 rs62508735 RCV000088697 |
336 | Q>R | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000941282 rs62517206 |
337 | G>E | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000088698 RCV001543648 rs62517206 CA229268 VAR_001003 |
337 | G>V | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001988402 rs1169310686 RCV003317565 |
338 | D>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000794431 VAR_001004 rs62516150 RCV000088699 CA229269 |
338 | D>Y | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA229270 RCV001543649 rs62508720 RCV000088700 |
340 | I>T | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62517200 RCV002259581 RCV000088701 CA229272 |
341 | K>* | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62516153 RCV001543651 CA229275 VAR_001005 RCV000088703 |
341 | K>R | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs62516153 RCV000088702 CA229274 RCV001543650 VAR_001006 |
341 | K>T | Phenylketonuria PKU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA229279 rs63581460 RCV000088706 RCV000412182 |
342 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs796064501 RCV000190375 CA275935 |
342 | A>E | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62507282 CA229277 RCV003330433 RCV000088705 |
342 | A>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_001007 CA229276 rs62507282 RCV000088704 RCV001386152 |
342 | A>T | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 5 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001387432 rs1874735553 RCV001093520 |
343 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62507265 RCV001194126 VAR_001008 CA229282 RCV000088708 |
343 | Y>C | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001200017 rs62508651 RCV000088707 CA229280 |
343 | Y>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001199981 rs62508651 |
343 | Y>N | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62508582 RCV001543654 CA229288 RCV000088712 |
344 | G>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_009247 rs62508679 RCV000088711 CA229287 RCV001543645 |
344 | G>R | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs62508679 RCV001379649 COSM1510887 RCV000088710 CA229285 COSM6135542 |
344 | G>S | lung Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [Cosmic, ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000088713 rs62508582 RCV000674226 CA229290 VAR_009248 |
344 | G>V | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000586982 RCV000088715 rs62516062 VAR_001009 CA286497 |
345 | A>S | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000088714 CA229291 rs62516062 VAR_001010 RCV000490440 |
345 | A>T | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 7 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA16020921 RCV000553622 rs1555203737 |
346 | G>E | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62516063 RCV000088718 RCV000780556 CA229295 |
347 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs62516154 RCV000088719 CA229296 VAR_001011 RCV001543642 |
347 | L>F | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000088720 RCV001269310 CA229297 rs199475600 |
348 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1874733519 RCV001199977 |
348 | L>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002514381 VAR_001012 rs62516092 RCV002251963 CA220576 RCV000150080 RCV000078498 |
348 | L>V | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) PKU; mild haplotype 9 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs62507279 RCV001200004 RCV000088722 CA229300 |
349 | S>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000088721 rs62508646 CA229298 RCV001386151 |
349 | S>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_001013 RCV001040702 CA229302 rs62507279 RCV000088723 |
349 | S>L | Phenylketonuria Phenylketonuria (pku) PKU; severe [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000078499 rs62508646 RCV000000646 CA251542 VAR_001014 |
349 | S>P | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 1,4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000088724 RCV001789753 CA229303 rs62516157 |
350 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000088725 CA229304 VAR_001015 RCV001543633 rs62517183 |
350 | S>T | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA229305 RCV000088726 rs62508628 RCV002498473 |
350 | S>Y | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000267428 rs62516094 RCV000088729 CA229311 |
352 | G>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002514541 CA229309 rs62508686 RCV000088728 |
352 | G>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229307 rs62508686 RCV000088727 RCV001543661 |
352 | G>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2136636774 RCV002260496 |
353 | E>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002259582 RCV001252101 RCV000088730 CA229312 rs62507350 |
353 | E>missing | Phenylketonuria Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001234044 CA229313 rs199475633 RCV000088731 |
355 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229327 RCV000000626 RCV000078501 RCV000150078 rs62516095 CA273107 RCV000088745 |
356 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001093527 rs62507320 |
356 | Y>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA229325 rs62507320 RCV000088743 RCV001543652 |
356 | Y>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766107583 RCV001375888 |
357 | C>* | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs62508595 RCV001199978 CA229329 VAR_011575 RCV000088746 |
357 | C>G | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000667720 rs62508595 |
357 | C>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000672872 rs376480977 |
358 | L>F | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA229330 RCV000088747 RCV000000658 rs5030854 |
359 | S>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs5030854 RCV001789823 |
359 | S>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002260495 rs2136635903 |
360 | E>* | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001789827 rs772918939 |
361 | K>Q | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1592947563 RCV000988898 |
362 | P>R | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs62507329 VAR_001016 RCV000088748 CA229332 RCV002514542 |
362 | P>T | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000169397 rs5030654 CA229336 RCV000088751 |
363 | K>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229334 RCV001526923 RCV000669869 rs63329263 RCV000088750 RCV000668925 |
363 | K>N | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD ClinGen NCI-TCGA |
|
CA229337 VAR_001017 VAR_001018 rs62516096 RCV000000628 RCV000088752 |
364 | L>missing | Phenylketonuria PKU PKU; haplotype 5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP |
|
rs62516096 VAR_001017 |
364 | L>del | PKU; haplotype 5 [UniProt] | Yes |
UniProt dbSNP |
|
VAR_001018 rs62516096 |
364 | L>del | PKU [UniProt] | Yes |
UniProt dbSNP |
|
CA229339 RCV000088753 rs62516097 RCV000000651 |
365 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs951540129 RCV001923642 |
365 | L>F | Phenylketonuria Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA229341 RCV000672118 RCV000088754 rs62516098 VAR_001019 |
366 | P>H | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002537932 RCV001284319 rs62516098 |
366 | P>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2136635839 RCV001378239 |
366 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1592947538 RCV000988897 |
367 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000088755 CA229343 RCV000088757 rs62506951 RCV000781680 RCV002509212 CA229342 |
367 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229344 RCV000758106 RCV000088758 rs62508574 |
367 | L>P | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758124 rs62508574 |
367 | L>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000758105 rs1565842281 |
367 | L>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001543655 rs2136635784 |
368 | E>G | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000850224 rs1488232864 |
368 | E>K | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001789826 rs2136635779 |
369 | L>V | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1592947508 RCV000850225 |
370 | E>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62507268 RCV000088760 RCV001543653 CA229348 |
371 | K>R | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001789816 rs2136635740 |
372 | T>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62517163 CA229350 VAR_001020 RCV000306209 RCV000088761 |
372 | T>S | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA229353 rs62516099 RCV000088763 RCV001269038 |
373 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001199986 rs1874694965 |
373 | A>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002259583 RCV000088762 CA229351 rs62508717 |
373 | A>T | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001279859 rs769076484 |
374 | I>V | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000817803 rs184148104 |
375 | Q>E | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1874694173 RCV001199982 |
375 | Q>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA229355 RCV001857428 RCV000088765 rs62642921 |
376 | N>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229356 rs62642941 RCV000000666 RCV000088766 |
377 | Y>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA229357 RCV002259584 RCV000088767 rs62642942 VAR_001021 |
377 | Y>C | Phenylketonuria PKU; haplotype 4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001200015 rs1874693635 |
377 | Y>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62642911 RCV000088768 CA229358 RCV001200006 |
378 | T>S | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002260485 rs746203167 RCV003478955 |
379 | V>A | Phenylketonuria [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000078502 RCV003258654 RCV003390629 rs62642937 CA114369 RCV001280537 RCV000000660 RCV000150077 VAR_001022 RCV000850463 |
380 | T>M | Phenylketonuria PAH-related condition 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Marfanoid habitus and intellectual disability Inborn genetic diseases Phenylketonuria (pku) Hyperphenylalaninemia non-PKU HPA and PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1874691554 RCV001093510 |
382 | F>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000672945 rs1555203681 |
382 | F>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1874691210 RCV001246796 |
383 | Q>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1037293795 CA16020949 RCV000409716 |
383 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001779045 RCV000666283 rs1555203677 |
384 | P>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1565842203 RCV000704392 |
385 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000088769 CA229360 RCV001084011 rs772897 |
385 | L>= | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA274152 VAR_001023 rs62516141 RCV000169306 RCV003162523 RCV000088771 |
386 | Y>C | Phenylketonuria Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
CA229361 RCV001239036 RCV000088770 rs199475691 |
386 | Y>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2136635586 RCV001964349 |
386 | Y>H | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001194128 RCV001215227 rs149595475 |
387 | Y>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001789815 rs62517194 |
387 | Y>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000088772 RCV001789754 rs62517194 CA229363 VAR_001024 |
387 | Y>H | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000088776 rs199475629 RCV001269039 CA229367 |
388 | V>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs281865435 RCV000106341 CA267628 |
388 | V>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229366 VAR_001025 RCV000088775 rs62516101 RCV001269277 |
388 | V>L | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000650 RCV000088774 CA251543 rs62516101 VAR_001026 |
388 | V>M | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 1,4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs62506949 RCV000669467 CA229368 RCV000088777 |
389 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001789828 rs1874688379 |
389 | A>E | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1874688379 RCV001269041 |
389 | A>G | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000078503 CA114367 rs5030856 VAR_001027 RCV000000656 RCV000000657 |
390 | E>G | Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia PKU and non-PKU HPA; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1429055740 RCV000669075 |
391 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865453 RCV000106342 CA267630 |
391 | S>G | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869312997 RCV000210788 CA357240 |
391 | S>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs180819807 RCV001058418 |
392 | F>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199475695 RCV000088778 RCV001269040 CA229369 |
392 | F>S | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000666841 rs1555203666 |
394 | D>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_001028 rs62516102 CA229372 RCV003323399 RCV001789755 RCV000088780 |
394 | D>A | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000088779 RCV000714571 rs62516142 CA229371 VAR_001029 |
394 | D>H | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA267632 RCV000106343 rs62516142 |
394 | D>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002509213 RCV000088782 CA229374 rs62508736 |
395 | A>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000410586 VAR_001030 CA286498 rs62508736 RCV000088783 |
395 | A>G | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
CA229373 rs62516103 VAR_001031 RCV000088781 RCV000781679 |
395 | A>P | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001236942 rs776178623 |
396 | K>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001888179 rs2136635468 |
398 | K>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs199475638 RCV002260487 COSM4901318 |
398 | K>N | Variant assessed as Somatic; MODERATE impact. Phenylketonuria Phenylketonuria (pku) [NCI-TCGA, ClinVar, Ensembl] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP gnomAD |
|
rs199475603 RCV000088785 CA229378 RCV002509214 |
399 | V>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000106344 RCV002287368 CA267634 rs281865436 |
399 | V>A | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA229383 RCV000088788 rs199475590 RCV000671992 |
400 | R>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs199475658 CA229389 RCV000088795 RCV000672156 |
400 | R>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001269313 rs1874549626 |
400 | R>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
CA229391 RCV001543634 rs199475658 RCV000088796 |
400 | R>T | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1399587250 RCV001269045 |
402 | F>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
rs62508725 RCV001789824 |
402 | F>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001269043 rs62508725 CA229396 RCV000088800 |
402 | F>L | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62508725 RCV001269046 |
402 | F>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs5030857 VAR_001033 CA273106 RCV000150075 RCV000078506 RCV000622360 |
403 | A>V | Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) non-PKU HPA and PKU; haplotype 43 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555203401 RCV000674210 |
404 | A>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199995 rs1874547168 |
406 | I>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985880 RCV000668256 rs773526027 |
406 | I>M | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA229398 rs62644469 RCV000088801 RCV000758128 |
406 | I>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758135 rs749613899 |
406 | I>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs62644473 VAR_068007 CA229402 RCV000000667 RCV000088804 |
407 | P>L | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs62644465 RCV000672236 CA229400 VAR_011576 RCV000088802 |
407 | P>S | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) PKU [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_001034 RCV000000643 RCV000088806 rs5030859 CA229404 |
408 | R>Q | Phenylketonuria Phenylketonuria (pku) PKU; haplotypes 4,12 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002512607 RCV000000607 CA251523 VAR_001035 RCV002287314 rs5030858 RCV003415607 RCV000078507 |
408 | R>W | PAH-related condition Phenylketonuria Inborn genetic diseases Phenylketonuria (pku) HPA and PKU; haplotypes 1,2,4,5,13,34,41,44; most common mutation; reduction in activity is probably due to a global conformational change in the protein that reduces allostery [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000088808 rs62644475 CA229406 RCV001269318 |
410 | F>C | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1746684 rs1874543567 RCV001200016 |
410 | F>I | Phenylketonuria urinary_tract Phenylketonuria (pku) [ClinVar, Cosmic, Ensembl] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs62644475 CA229405 VAR_009249 RCV000665363 RCV000088807 |
410 | F>S | Phenylketonuria Phenylketonuria (pku) PKU; mild [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002509216 CA229409 rs62644477 RCV000088810 |
411 | S>* | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001199997 rs1874542925 |
412 | V>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001269321 rs62644467 CA229412 RCV003415874 RCV000088812 |
413 | R>C | PAH-related condition Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs62644467 RCV001269319 |
413 | R>G | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3810809 rs79931499 RCV001210291 |
413 | R>H | Phenylketonuria Variant assessed as Somatic; MODERATE impact. breast Phenylketonuria (pku) [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000000623 CA229414 RCV000088813 VAR_001036 rs79931499 |
413 | R>P | Phenylketonuria Phenylketonuria (pku) non-PKU HPA and PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000088811 rs62644467 RCV001380994 VAR_001037 CA229411 |
413 | R>S | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_001038 RCV003398401 RCV000000624 CA114362 rs5030860 RCV002287315 RCV000150074 RCV000078508 |
414 | Y>C | Phenylketonuria PAH-related condition Phenylketonuria (pku) Hyperphenylalaninemia HPA and PKU; haplotype 4; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000106346 rs281865437 CA267637 |
414 | Y>H | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000401074 rs62644499 CA114364 VAR_001039 RCV000088815 RCV003415609 RCV000000648 |
415 | D>N | PAH-related condition Phenylketonuria Phenylketonuria (pku) Hyperphenylalaninemia PKU, HPA and non-PKU HPA; haplotype 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002260504 rs2136632085 |
415 | D>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001789809 rs62644499 |
415 | D>Y | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1445893088 RCV000674315 |
416 | P>Q | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001269322 rs1874541064 |
416 | P>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs1371700813 RCV001789813 |
417 | Y>C | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs62644471 RCV001789814 |
417 | Y>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
rs62644471 VAR_068008 CA229417 RCV000088817 |
417 | Y>H | Phenylketonuria (pku) PKU; reduction in activity is probably due to a global conformational change in the protein that reduces allostery [Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001207037 rs1874539947 |
418 | T>I | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000672448 RCV000088818 VAR_001040 rs62644501 CA229418 |
418 | T>P | Phenylketonuria Phenylketonuria (pku) PKU; haplotype 4 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000667759 rs752255985 |
419 | Q>R | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001200002 rs767075719 |
420 | R>M | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002024160 rs767075719 |
420 | R>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_067760 RCV000792932 rs199475696 |
421 | I>S | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM3383976 RCV000088820 RCV001388783 rs199475696 CA229420 |
421 | I>T | Phenylketonuria pancreas Phenylketonuria (pku) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000088821 rs199475621 RCV001199987 CA229422 |
422 | E>K | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001269048 rs199475670 |
424 | L>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
CA229424 RCV000088822 RCV000993606 rs199475670 |
424 | L>S | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001543643 rs2136631967 |
428 | Q>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759177 rs567261857 CA16041558 RCV000410471 |
428 | Q>* | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000666644 rs764974157 |
429 | Q>K | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199475607 RCV001789756 VAR_001041 CA229426 RCV000088824 |
430 | L>P | Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000666334 rs1555203363 |
431 | K>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410563 rs1057516377 CA16041557 |
433 | L>missing | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs199475659 RCV000088825 RCV000169393 CA229427 |
434 | A>D | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199475659 RCV001789812 |
434 | A>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP |
|
rs1592945394 RCV000796569 |
435 | D>V | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001200009 rs1874535712 |
436 | S>missing | Phenylketonuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200005 rs1874535103 |
438 | N>D | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1874485021 RCV001200010 |
440 | E>* | Phenylketonuria [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000666307 rs1402168594 COSM5579232 |
444 | L>F | Phenylketonuria Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [ClinVar, NCI-TCGA, Ensembl] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1561882 RCV001279858 rs1874484048 |
445 | C>F | Phenylketonuria Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV003407485 RCV000088834 rs76542238 VAR_001042 RCV000632880 CA229437 |
447 | A>D | PAH-related condition Phenylketonuria Phenylketonuria (pku) PKU [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1192400891 RCV001062679 |
447 | A>T | Phenylketonuria Phenylketonuria (pku) [ClinVar, Ensembl] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000724595 RCV000174462 rs794727086 CA274987 |
453 | K>P | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000088835 rs199475641 RCV000169511 CA229438 |
453 | K>V | Phenylketonuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| rs1451895979 | 3 | T>I | No | TOPMed | |
| TCGA novel | 4 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1223872589 | 4 | A>T | No | gnomAD | |
| rs765022724 | 4 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs753312947 | 7 | E>Q | No | ExAC | |
| rs763623193 | 8 | N>D | No |
ExAC TOPMed gnomAD |
|
| COSM6135540 | 10 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1358239 | 10 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1346707834 | 11 | L>S | No | gnomAD | |
| rs1433712720 | 12 | G>S | No |
TOPMed gnomAD |
|
| rs1878412813 | 14 | K>E | No | Ensembl | |
| rs1319374413 | 15 | L>P | No |
TOPMed gnomAD |
|
| rs1878412507 | 15 | L>V | No | TOPMed | |
| rs1592991188 | 16 | S>F | Phenylketonuria (pku) [Ensembl] | No | Ensembl |
| rs62642946 | 16 | S>T | No | TOPMed | |
| rs150366430 | 17 | D>E | No |
ESP ExAC gnomAD |
|
| rs771104344 | 19 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs199475662 | 20 | Q>R | Phenylketonuria (pku) [Ensembl] | No | gnomAD |
| rs1878259731 | 22 | T>S | No |
TOPMed gnomAD |
|
| COSM4038092 | 23 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs913365395 | 23 | S>R | No | Ensembl | |
| rs539994406 | 24 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1878259032 | 25 | I>V | No | TOPMed | |
| rs1878258606 | 26 | E>K | No | TOPMed | |
| rs1878258443 | 27 | D>E | No | Ensembl | |
| rs936213897 | 30 | N>H | No | TOPMed | |
| rs1565873583 | 31 | Q>K | No | Ensembl | |
| rs760011862 | 36 | S>L | No |
ExAC gnomAD |
|
| rs1878257168 | 38 | I>M | No | Ensembl | |
| rs1878255644 | 43 | E>G | No | gnomAD | |
| COSM467671 | 45 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2136728171 | 46 | G>V | No | Ensembl | |
|
CA229441 RCV000088838 rs118203925 |
47 | A>E | Phenylketonuria (pku) [Ensembl] | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| rs1206656229 | 47 | A>S | No |
TOPMed gnomAD |
|
| rs1878253594 | 48 | L>F | No | gnomAD | |
|
rs1878253465 RCV001093427 |
49 | A>D | No |
ClinVar Ensembl dbSNP |
|
| rs776829633 | 50 | K>E | No |
ExAC gnomAD |
|
| rs772159852 | 51 | V>I | No |
ExAC gnomAD |
|
| rs143358918 | 54 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1398246301 | 60 | V>A | No | gnomAD | |
| rs2136702198 | 60 | V>I | No | Ensembl | |
| rs199475568 | 63 | T>A | Phenylketonuria (pku) [Ensembl] | No | gnomAD |
| rs989506392 | 63 | T>I | No | Ensembl | |
| rs1877434841 | 69 | P>R | No | Ensembl | |
|
COSM228590 rs866012140 |
71 | R>C | skin Phenylketonuria (pku) [Cosmic, Ensembl] | No |
cosmic curated TOPMed gnomAD |
| rs760782775 | 72 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs905692464 | 73 | K>E | No | Ensembl | |
| rs1877433097 | 73 | K>R | No | Ensembl | |
| COSM283679 | 74 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762949770 | 76 | E>Q | Phenylketonuria (pku) [Ensembl] | No |
ExAC gnomAD |
| rs1877431851 | 77 | Y>H | No | TOPMed | |
| rs1877431161 | 79 | F>C | No | gnomAD | |
| rs769705809 | 82 | H>N | No |
ExAC gnomAD |
|
| rs1349393789 | 82 | H>R | No | gnomAD | |
| rs768320548 | 86 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM3376086 rs746603180 |
86 | R>H | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs746603180 | 86 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs368152528 | 87 | S>N | No |
ESP TOPMed gnomAD |
|
| rs62507270 | 89 | P>T | Phenylketonuria (pku) [Ensembl] | No |
TOPMed gnomAD |
| rs1257495145 | 93 | N>D | No |
TOPMed gnomAD |
|
| rs62508682 | 95 | I>L | Phenylketonuria (pku) [Ensembl] | No |
ExAC TOPMed gnomAD |
| rs2136701686 | 96 | K>M | No | Ensembl | |
| COSM69072 | 97 | I>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs142516271 | 97 | I>V | Phenylketonuria (pku) [Ensembl] | No |
1000Genomes ESP ExAC TOPMed gnomAD |
| rs778230838 | 99 | R>T | No |
ExAC gnomAD |
|
| rs1877426296 | 100 | H>D | No |
TOPMed gnomAD |
|
|
rs1877425793 RCV001175456 |
101 | D>G | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 103 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2136701564 | 104 | A>S | No | Ensembl | |
| rs1877424740 | 106 | V>I | No | TOPMed | |
|
rs868854935 COSM934120 |
111 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1277247202 | 112 | D>H | No | Ensembl | |
| rs1331306772 | 113 | K>E | No | gnomAD | |
| rs1877422348 | 115 | K>E | No | gnomAD | |
| COSM4453785 | 116 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1384860249 | 117 | T>A | No | gnomAD | |
| rs776442422 | 118 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs374999809 | 119 | P>R | Phenylketonuria (pku) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
| rs775327122 | 120 | W>R | No |
ExAC TOPMed |
|
| rs1466564208 | 122 | P>A | Phenylketonuria (pku) [Ensembl] | No | gnomAD |
| rs199475571 | 124 | T>N | No |
TOPMed gnomAD |
|
| rs1215779649 | 125 | I>L | No | gnomAD | |
| rs767127989 | 127 | E>D | No |
ExAC gnomAD |
|
| TCGA novel | 128 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM2063946 | 130 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs893385519 | 132 | A>G | No | Ensembl | |
| TCGA novel | 132 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1010447542 | 132 | A>T | No |
TOPMed gnomAD |
|
| rs893385519 | 132 | A>V | No | Ensembl | |
| rs1565859434 | 133 | N>H | No | Ensembl | |
| rs1297932046 | 133 | N>S | No |
TOPMed gnomAD |
|
| COSM5970463 | 134 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1358237 | 136 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1362836017 | 136 | L>R | No | gnomAD | |
| rs1251581968 | 138 | Y>C | No | Ensembl | |
| rs375384973 | 139 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1876622179 | 139 | G>R | No | Ensembl | |
| rs372657268 | 140 | A>E | No |
ESP ExAC gnomAD |
|
| rs372657268 | 140 | A>G | No |
ESP ExAC gnomAD |
|
| rs372657268 | 140 | A>V | No |
ESP ExAC gnomAD |
|
| rs1009545424 | 143 | D>N | No |
TOPMed gnomAD |
|
| rs1009545424 | 143 | D>Y | No |
TOPMed gnomAD |
|
| rs1876620559 | 144 | A>T | No |
TOPMed gnomAD |
|
| rs1875985765 | 150 | K>E | No | Ensembl | |
|
rs199475625 CA229554 RCV000088931 |
151 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM1358236 | 151 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs570748767 | 156 | A>E | Phenylketonuria (pku) [Ensembl] | No |
1000Genomes TOPMed |
|
RCV000088938 rs199475611 CA229565 |
157 | R>K | Phenylketonuria (pku) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
| rs199475601 | 160 | Q>R | No | gnomAD | |
| rs1592961415 | 161 | F>L | No | Ensembl | |
| rs547566250 | 162 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1315260421 | 163 | D>E | No |
TOPMed gnomAD |
|
| rs753254031 | 166 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1033868455 | 167 | N>K | No | gnomAD | |
| rs77554925 | 167 | N>T | Phenylketonuria (pku) [Ensembl] | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000088952 CA229586 rs199475646 |
168 | Y>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs199475646 | 168 | Y>N | No | TOPMed | |
| rs1592961348 | 168 | Y>S | No | Ensembl | |
| rs199475613 | 171 | G>W | Phenylketonuria (pku) [Ensembl] | No |
ExAC gnomAD |
| rs138809906 | 174 | I>N | Phenylketonuria (pku) [Ensembl] | No |
ESP ExAC gnomAD |
| rs1325591065 | 175 | P>R | No |
TOPMed gnomAD |
|
|
RCV000088977 rs77958223 CA229611 |
178 | E>V | Phenylketonuria (pku) [Ensembl] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| rs745723155 | 180 | M>R | No |
ExAC gnomAD |
|
| TCGA novel | 181 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1432001010 | 181 | E>K | No | Ensembl | |
| rs17852373 | 183 | E>G | No | TOPMed | |
| rs199475664 | 183 | E>K | Phenylketonuria (pku) [Ensembl] | No |
ExAC gnomAD |
| rs1311748050 | 184 | K>Q | No | gnomAD | |
| COSM4038089 | 186 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199475689 | 188 | G>A | Phenylketonuria (pku) [Ensembl] | No |
ExAC gnomAD |
|
RCV000522171 rs1555204728 CA386296823 |
189 | T>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 191 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs932415157 | 192 | K>E | No | Ensembl | |
|
rs1875369263 COSM4038088 |
192 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1875369092 | 193 | T>S | No | TOPMed | |
|
rs63083561 RCV000088994 CA229637 |
196 | S>* | No |
ClinGen ClinVar dbSNP |
|
|
COSM3455203 rs865899394 |
196 | S>F | Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [NCI-TCGA, Ensembl] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2136649583 | 196 | S>T | No | Ensembl | |
| rs869109867 | 197 | L>CIKPMLAN | No | Ensembl | |
|
RCV000300336 CA10603784 rs886042078 |
197 | L>W | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1875367297 COSM1706143 |
199 | K>E | skin [Cosmic] | No |
cosmic curated Ensembl |
| TCGA novel | 199 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs62507271 | 203 | C>F | No | Ensembl | |
|
rs1555204715 RCV000592101 CA386296723 |
203 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1409955402 | 209 | I>N | No | gnomAD | |
| rs1409955402 | 209 | I>T | No | gnomAD | |
| COSM2063932 | 211 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1166839656 | 215 | K>E | No |
TOPMed gnomAD |
|
| COSM1358233 | 215 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1164279708 | 219 | F>Y | Phenylketonuria (pku) [Ensembl] | No |
TOPMed gnomAD |
| rs1592954413 | 220 | H>R | Phenylketonuria (pku) [Ensembl] | No | Ensembl |
| rs201245932 | 223 | N>S | Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [NCI-TCGA, Ensembl] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001092607 rs1875355050 |
226 | Q>missing | No |
ClinVar dbSNP |
|
| rs1126758 | 232 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1875352952 | 232 | Q>R | No | Ensembl | |
| rs1420897175 | 233 | F>S | No | gnomAD | |
| rs2136649131 | 235 | Q>H | No | Ensembl | |
| rs1875247427 | 236 | T>S | No | TOPMed | |
| rs372723640 | 237 | C>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs62517178 | 239 | G>R | No | Ensembl | |
| rs796052017 | 245 | V>A | No | Ensembl | |
| rs1372655774 | 246 | A>P | No |
TOPMed gnomAD |
|
| rs369646949 | 251 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1592952998 | 253 | D>G | No | Ensembl | |
|
rs62642909 CA229744 RCV000089081 |
254 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1420712008 | 256 | G>C | No |
TOPMed gnomAD |
|
| rs1420712008 | 256 | G>R | No |
TOPMed gnomAD |
|
| rs1420712008 | 256 | G>S | No |
TOPMed gnomAD |
|
|
RCV000089086 rs62642908 CA229751 |
257 | G>D | Variant assessed as Somatic; MODERATE impact. Phenylketonuria (pku) [NCI-TCGA, Ensembl] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000089084 rs5030848 CA229748 |
257 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs749668037 | 264 | H>Y | No |
ExAC TOPMed gnomAD |
|
|
rs62508753 CA229767 RCV000089097 |
266 | T>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs199475690 CA229779 RCV000089104 |
270 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3398262 | 274 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1160691269 | 274 | K>N | No | gnomAD | |
| rs62516149 | 276 | M>L | Phenylketonuria (pku) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
| rs62508722 | 276 | M>T | Phenylketonuria (pku) [Ensembl] | No |
ExAC TOPMed gnomAD |
| rs62516156 | 278 | T>P | Phenylketonuria (pku) [Ensembl] | No | Ensembl |
| rs199475654 | 281 | P>T | Phenylketonuria (pku) [Ensembl] | No |
ExAC gnomAD |
| rs62508739 | 286 | E>* | Phenylketonuria (pku) [Ensembl] | No |
ExAC TOPMed gnomAD |
| rs1245308538 | 292 | P>S | No | gnomAD | |
| rs1188242574 | 293 | L>F | No | TOPMed | |
| rs2136644930 | 293 | L>V | No | 1000Genomes | |
| rs1565846198 | 294 | F>L | No |
TOPMed gnomAD |
|
| rs1592952209 | 298 | S>N | No | Ensembl | |
|
rs1057520732 CA16606056 RCV000436688 |
301 | Q>K | Phenylketonuria (pku) [Ensembl] | No |
ClinGen ClinVar TOPMed dbSNP |
| COSM3455200 | 303 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1706141 | 305 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs62642095 | 308 | L>I | No | gnomAD | |
|
rs62642095 RCV000089158 CA229849 |
308 | L>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs62642913 | 310 | S>C | No | TOPMed | |
| rs763115697 | 312 | G>S | Phenylketonuria (pku) [Ensembl] | No |
ExAC gnomAD |
| rs62642912 | 313 | A>S | Phenylketonuria (pku) [Ensembl] | No |
1000Genomes ExAC gnomAD |
|
RCV000089172 rs62642917 CA229868 |
315 | D>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
| COSM3710538 | 316 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1013968856 | 318 | I>V | Phenylketonuria (pku) [Ensembl] | No | Ensembl |
|
rs398123294 CA266811 COSM467669 RCV000078539 |
319 | E>* | Variant assessed as Somatic; HIGH impact. kidney [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| rs1387415225 | 319 | E>D | No |
TOPMed gnomAD |
|
|
RCV000994964 rs1592949408 |
319 | E>G | No |
ClinVar Ensembl dbSNP |
|
| COSM6071189 | 323 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1555203761 CA386493515 RCV000506068 |
326 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs535752872 | 327 | F>Y | No |
1000Genomes ExAC gnomAD |
|
| rs748816402 | 329 | V>A | No |
ExAC gnomAD |
|
| rs989654400 | 329 | V>M | No |
TOPMed gnomAD |
|
| rs1356332985 | 330 | E>K | No | gnomAD | |
|
RCV000089194 rs62508589 CA229897 |
332 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1187270724 | 332 | G>R | No | gnomAD | |
| rs140243918 | 334 | C>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs62516061 | 336 | Q>E | No |
1000Genomes ExAC gnomAD |
|
| rs62516150 | 338 | D>N | Phenylketonuria (pku) [Ensembl] | No |
ExAC TOPMed gnomAD |
| rs1310594352 | 340 | I>M | No | gnomAD | |
| rs1209521395 | 340 | I>V | No | gnomAD | |
|
rs62507265 CA229283 RCV000088709 |
343 | Y>F | Phenylketonuria (pku) [Ensembl] | No |
ClinGen ClinVar TOPMed dbSNP |
|
rs62508688 RCV000088716 CA229294 CA229292 RCV000088717 |
346 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs901519473 | 347 | L>R | No | Ensembl | |
| rs1874731337 | 355 | Q>H | No | TOPMed | |
| rs1291253532 | 357 | C>Y | No | gnomAD | |
| rs772918939 | 361 | K>* | No |
ExAC TOPMed gnomAD |
|
| rs62507329 | 362 | P>S | Phenylketonuria (pku) [Ensembl] | No |
ExAC gnomAD |
|
RCV000088749 CA229333 rs199475667 |
363 | K>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1221432852 | 364 | L>F | No |
TOPMed gnomAD |
|
| rs62506951 | 367 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1488232864 | 368 | E>Q | Phenylketonuria (pku) [Ensembl] | No |
TOPMed gnomAD |
| TCGA novel | 370 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769076484 | 374 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs1830162545 | 376 | N>T | No | Ensembl | |
| rs1874693635 | 377 | Y>N | Phenylketonuria (pku) [Ensembl] | No | Ensembl |
| rs780691974 | 378 | T>I | No |
ExAC gnomAD |
|
| rs772630527 | 379 | V>L | No |
ExAC gnomAD |
|
| rs267603271 | 381 | E>K | No | Ensembl | |
|
COSM691582 rs1846383965 |
385 | L>P | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
|
CA239463 rs199475691 RCV000173991 |
386 | Y>H | Phenylketonuria (pku) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
| rs281865435 | 388 | V>E | Phenylketonuria (pku) [Ensembl] | No | Ensembl |
| TCGA novel | 390 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761487922 | 393 | N>H | No |
ExAC gnomAD |
|
| rs1032248318 | 393 | N>S | No |
TOPMed gnomAD |
|
| rs1237673210 | 397 | E>K | No | TOPMed | |
| rs199475593 | 400 | R>G | Phenylketonuria (pku) [Ensembl] | No |
ExAC TOPMed gnomAD |
| TCGA novel | 401 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1399587250 | 402 | F>S | Phenylketonuria (pku) [Ensembl] | No | gnomAD |
| rs1592945596 | 403 | A>P | No | Ensembl | |
|
RCV000301874 CA10605090 rs886043085 |
404 | A>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs886043085 | 404 | A>S | No | gnomAD | |
|
CA229403 RCV000088805 rs62644489 |
407 | P>missing | No |
ClinGen ClinVar dbSNP |
|
| COSM430187 | 409 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1457736410 | 409 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 411 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3986575 | 412 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs899129158 | 412 | V>F | No | gnomAD | |
| rs899129158 | 412 | V>I | No | gnomAD | |
| rs79931499 | 413 | R>L | Phenylketonuria (pku) [Ensembl] | No |
1000Genomes ExAC TOPMed gnomAD |
| rs1445893088 | 416 | P>L | Phenylketonuria (pku) [Ensembl] | No | gnomAD |
|
CA229415 RCV000088816 rs62644471 |
417 | Y>N | Phenylketonuria (pku) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
| rs62644501 | 418 | T>A | Phenylketonuria (pku) [Ensembl] | No | gnomAD |
| rs1162831467 | 420 | R>G | No |
TOPMed gnomAD |
|
| rs1640643512 | 422 | E>A | No | TOPMed | |
| COSM1358227 | 423 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1202739696 | 423 | V>I | No |
TOPMed gnomAD |
|
| rs148041893 | 424 | L>V | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 425 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1439603624 | 425 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1251784003 | 427 | T>I | No |
TOPMed gnomAD |
|
| rs567261857 | 428 | Q>E | Phenylketonuria (pku) [Ensembl] | No |
1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 428 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs865968546 | 428 | Q>R | No | Ensembl | |
| rs764974157 | 429 | Q>* | Phenylketonuria (pku) [Ensembl] | No |
ExAC TOPMed gnomAD |
|
RCV000174234 CA239743 rs794727047 |
429 | Q>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1355432845 | 434 | A>T | No | gnomAD | |
| rs748303375 | 435 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs866416587 | 436 | S>F | No | Ensembl | |
| rs989098970 | 439 | S>G | No |
TOPMed gnomAD |
|
| rs775391163 | 439 | S>N | No |
ExAC gnomAD |
|
| rs1775160128 | 441 | I>M | No | Ensembl | |
| rs1447503178 | 441 | I>T | No | TOPMed | |
| rs868147863 | 442 | G>E | No | Ensembl | |
| COSM2063910 | 442 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1285012083 | 443 | I>M | No | TOPMed | |
| rs1402168594 | 444 | L>I | Phenylketonuria (pku) [Ensembl] | No |
TOPMed gnomAD |
| rs565686453 | 446 | S>G | No |
1000Genomes TOPMed gnomAD |
|
| rs770906256 | 446 | S>N | No |
ExAC gnomAD |
|
| rs769777460 | 448 | L>H | No |
ExAC gnomAD |
|
| rs1258710210 | 449 | Q>H | No |
TOPMed gnomAD |
|
| rs1441742009 | 449 | Q>R | No | gnomAD | |
| rs781041737 | 451 | I>T | No |
ExAC gnomAD |
|
| TCGA novel | 452 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2136630794 | 452 | K>R | No | Ensembl | |
| rs199475669 | 453 | K>K | No | Ensembl |
3 associated diseases with P00439
[MIM: 261600]: Phenylketonuria (PKU)
Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes intellectual disability (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 261600]: Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 261600]: Hyperphenylalaninemia (HPA)
Mildest form of phenylalanine hydroxylase deficiency. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes intellectual disability (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. . Note=The disease is caused by variants affecting the gene represented in this entry.
- Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. . Note=The disease is caused by variants affecting the gene represented in this entry.
- Mildest form of phenylalanine hydroxylase deficiency. . Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for P00439
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 5 - 295 | IPR000299 |
| domain | Ezrin/radixin/moesin, C-terminal | 511 - 586 | IPR011259 |
| domain | FERM, N-terminal | 9 - 68 | IPR018979 |
| domain | FERM, C-terminal PH-like domain | 210 - 299 | IPR018980 |
| conserved_site | FERM conserved site | 58 - 88 | IPR019747-1 |
| conserved_site | FERM conserved site | 176 - 205 | IPR019747-2 |
| domain | FERM central domain | 91 - 206 | IPR019748 |
| domain | Band 4.1 domain | 1 - 206 | IPR019749 |
| domain | ERM family, FERM domain C-lobe | 200 - 296 | IPR041789 |
| domain | Ezrin/radixin/moesin, alpha-helical domain | 337 - 456 | IPR046810 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.16.1 | With reduced pteridine as one donor, and incorporation of one atom of oxygen |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| iron ion binding | Binding to an iron (Fe) ion. |
| phenylalanine 4-monooxygenase activity | Catalysis of the reaction |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid biosynthetic process | The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. |
| catecholamine biosynthetic process | The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. |
| L-phenylalanine catabolic process | The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid. |
| tyrosine biosynthetic process | The chemical reactions and pathways resulting in the formation of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17289 | TH | Tyrosine 3-monooxygenase | Bos taurus (Bovine) | PR |
| Q2KIH7 | PAH | Phenylalanine-4-hydroxylase | Bos taurus (Bovine) | SS |
| P16331 | Pah | Phenylalanine-4-hydroxylase | Mus musculus (Mouse) | SS |
| P04176 | Pah | Phenylalanine-4-hydroxylase | Rattus norvegicus (Rat) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTAVLENPG | LGRKLSDFGQ | ETSYIEDNCN | QNGAISLIFS | LKEEVGALAK | VLRLFEENDV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NLTHIESRPS | RLKKDEYEFF | THLDKRSLPA | LTNIIKILRH | DIGATVHELS | RDKKKDTVPW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FPRTIQELDR | FANQILSYGA | ELDADHPGFK | DPVYRARRKQ | FADIAYNYRH | GQPIPRVEYM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEEKKTWGTV | FKTLKSLYKT | HACYEYNHIF | PLLEKYCGFH | EDNIPQLEDV | SQFLQTCTGF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RLRPVAGLLS | SRDFLGGLAF | RVFHCTQYIR | HGSKPMYTPE | PDICHELLGH | VPLFSDRSFA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QFSQEIGLAS | LGAPDEYIEK | LATIYWFTVE | FGLCKQGDSI | KAYGAGLLSS | FGELQYCLSE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KPKLLPLELE | KTAIQNYTVT | EFQPLYYVAE | SFNDAKEKVR | NFAATIPRPF | SVRYDPYTQR |
| 430 | 440 | 450 | |||
| IEVLDNTQQL | KILADSINSE | IGILCSALQK | IK |