From: Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
ID | Classifcation | Paternal variant | Maternal variant |
---|---|---|---|
1 | cPKU | c.728G>A | c.1199+502A>T |
2 | cPKU | c.1197A>T | c.706+368T>C |
3 | cPKU | c.1199+502A>T | c.728G>A |
4 | cPKU | c.1199+502A>T | c.728G>A |
5 | cPKU | c.1301C>A | c.1065+241C>A |
6 | cPKU | c.1199+502A>T | c.1238G>C |
7 | cPKU | c.1238G>C | c.1199+502A>T |
8 | cPKU | c.1199G>A | c.1199+502A>T |
9 | cPKU | c.1199+502A>T | c.728G>A |
10 | cPKU | c.1199+502A>T | c.782G>A |
11 | cPKU | c.526C>T | c.1199+502A>T |
12 | mPKU | c.1199+502A>T | c.1199G>A |
13 | mPKU | c.208_210delTCT | c.1065+241C>A |
14 | mPKU | c.1199+502A>T | c.694C>T |
15 | mPKU | c.842+2T>A | c.1199+502A>T |
16 | mPKU | c.1068C>A | c.1199+502A>T |
17 | mPKU | c.1199+502A>T | c.194T>C |
18 | mPKU | c.1199+502A>T | c.331C>T |
19 | mPKU | c.87C>A | c.1199+502A>T |
20 | mPKU | c.1065+241C>A | c.728G>A |
21 | mPKU | EX1-2del | c.706+531T>C |
22 | mPKU | c.706+608A>C | c.694C>T |
23 | mPKU | ? | c.782G>A |
24 | mPKU | c.1301C>A | ? |
25 | mPKU | c.782G>A | ? |
26 | mPKU | c.1289T>C | ? |
27 | mPKU | ? | c.473G>A |
28 | mPKU | c.1301C>A | ? |
29 | MHP | c.1199+502A>T | c.158G>A |
30 | MHP | c.532G>A | c.1199+502A>T |
31 | MHP | Exon3del | ? |
32 | MHP | EX1-Updel | ? |
33 | MHP | c.1256A>G | ? |
34 | MHP | ? | c.770G>T |
35 | MHP | c.1114A>T | ? |
36 | MHP | c.611A>G | ? |
37 | MHP | c.728G>A | ? |
38 | MHP | c.194T>C | ? |
39 | MHP | ? | c.1200-1G>C |
40 | MHP | ? | c.1068C>A |
41 | MHP | ? | c.1068C>A |
42 | MHP | c.1315+6T>A | ? |
43 | MHP | c.688G>A | ? |
44 | MHP | ? | c.782G>A |
45 | MHP | c.208_210delTCT | ? |