rs1040441824
|
|
0.882 |
0.200 |
11 |
112233502 |
missense variant
|
A/G
|
snv
|
|
2.1E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs104894278
|
|
0.925 |
0.120 |
11 |
112228649 |
missense variant
|
A/G
|
snv
|
4.0E-06
|
|
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
|
0.700 |
|
0 |
|
|
rs104894279
|
|
0.925 |
0.120 |
11 |
112233464 |
missense variant
|
A/G
|
snv
|
|
7.0E-06
|
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
|
0.700 |
|
0 |
|
|
rs1256819927
|
|
1.000 |
0.120 |
11 |
112230231 |
splice donor variant
|
G/T
|
snv
|
4.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1328320990
|
|
1.000 |
0.120 |
11 |
112228614 |
missense variant
|
A/G
|
snv
|
|
1.4E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1555198165
|
|
1.000 |
0.120 |
11 |
112229367 |
non coding transcript exon variant
|
AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT/-
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1555198233
|
|
1.000 |
0.120 |
11 |
112230206 |
splice acceptor variant
|
A/G
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1555198263
|
|
1.000 |
0.120 |
11 |
112230664 |
frameshift variant
|
TC/-
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1555198451
|
|
1.000 |
0.120 |
11 |
112233162 |
splice acceptor variant
|
G/T
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1555198462
|
|
1.000 |
0.120 |
11 |
112233234 |
splice donor variant
|
G/C
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1555198483
|
|
1.000 |
0.120 |
11 |
112233430 |
splice acceptor variant
|
A/G
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs1555198494
|
|
1.000 |
0.120 |
11 |
112233452 |
frameshift variant
|
T/-
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs776543880
|
|
1.000 |
0.120 |
11 |
112233431 |
splice acceptor variant
|
G/A;C
|
snv
|
4.1E-06
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs794726656
|
|
1.000 |
|
11 |
112233478 |
frameshift variant
|
GTTCTTCCTGTAGG/-
|
del
|
|
7.0E-06
|
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
|
0.700 |
|
0 |
|
|
rs794726657
|
|
1.000 |
0.120 |
11 |
112228271 |
intron variant
|
A/T
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs927103678
|
|
1.000 |
0.120 |
11 |
112226527 |
splice donor variant
|
G/A
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
|
0 |
|
|
rs866922524
|
|
1.000 |
0.120 |
11 |
112230681 |
splice donor variant
|
-/GG
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.700 |
1.000 |
2 |
1987 |
2006 |
rs104894280
|
|
0.925 |
0.120 |
11 |
112233205 |
missense variant
|
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
21 |
1994 |
2015 |
rs104894275
|
|
0.882 |
0.120 |
11 |
112228665 |
missense variant
|
A/G
|
snv
|
1.2E-04
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
18 |
1994 |
2017 |
rs104894276
|
|
0.882 |
0.120 |
11 |
112233178 |
missense variant
|
C/G;T
|
snv
|
4.0E-06;
7.6E-05
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
18 |
1994 |
2015 |
rs370340361
|
|
1.000 |
0.120 |
11 |
112230639 |
missense variant
|
C/T
|
snv
|
6.8E-05
|
1.4E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
18 |
1994 |
2015 |
rs104894277
|
|
0.925 |
0.120 |
11 |
112230210 |
missense variant
|
G/A;C
|
snv
|
1.6E-05;
8.0E-06
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
15 |
1994 |
2014 |
rs765406631
|
|
1.000 |
0.120 |
11 |
112233179 |
missense variant
|
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
15 |
1994 |
2013 |
rs200712908
|
|
0.925 |
0.120 |
11 |
112233434 |
missense variant
|
C/T
|
snv
|
1.2E-04
|
9.8E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
14 |
1994 |
2013 |
rs104894273
|
|
1.000 |
0.120 |
11 |
112226517 |
missense variant
|
G/A
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.800 |
1.000 |
12 |
1994 |
2001 |