Genes and Amplicons | Variants on Melting Curve Analysis (10 patients in each group) | Sequence analysis results (10 patients in each group) | |||||
---|---|---|---|---|---|---|---|
SCN5A | gDNA | wgaDNA | gDNA | wgaDNA | Type | Result | Additional information |
1 | 1 | 5 | Wild Type | Wild Type | |||
2 | 2 | 2 | 2 | 2 | G->A | pos 87, no aa change | |
3 | 1 | 1 | Wild Type | Wild Type | |||
4 | Wild Type | 1 | Wild Type | Wild Type | |||
5 | 1 | Wild Type | Wild Type | Wild Type | |||
6 | 2 | Wild Type | Wild Type | Wild Type | |||
7 | 1 | Wild Type | Wild Type | Wild Type | |||
8 | Wild Type | Wild Type | Wild Type | Wild Type | |||
9 | 3 | 3 | 1 | 1 | G->A | R340Q | Rare variant |
10 | 5 | 6 | 3 | 3 | C->A | Intronic | pos -3 |
11 | 6 | 4 | 3 | 3 | G->A | Intronic | pos -24 |
12 | 7 | 6 | 3 | 3 | A->G | H556R | Known variant |
13 | 3 | 3 | Wild Type | Wild Type | |||
14 | Wild Type | 4 | Wild Type | Wild Type | |||
15 | 3 | 4 | Wild Type | Wild Type | |||
16 | 3 | 3 | Wild Type | Wild Type | |||
17 | Wild Type | Wild Type | Wild Type | Wild Type | |||
18 | Wild Type | Wild Type | Wild Type | Wild Type | |||
19 | Wild Type | 1 | Wild Type | Wild Type | |||
20 | 6 | 4 | 3 | 3 | G->A | pos 1061, no aa change | |
21 | Wild Type | Wild Type | Wild Type | Wild Type | |||
22 | 1 | 1 | Wild Type | Wild Type | |||
23 | Wild Type | Wild Type | Wild Type | Wild Type | |||
24 | Wild Type | Wild Type | Wild Type | Wild Type | |||
25 | Wild Type | Wild Type | Wild Type | Wild Type | |||
26 | 3 | 4 | Wild Type | Wild Type | |||
27 | 1 | 1 | Wild Type | Wild Type | |||
28 | 2 | 2 | Wild Type | Wild Type | |||
29 | 2 | 2 | Wild Type | Wild Type | |||
30 | Wild Type | Wild Type | Wild Type | Wild Type | |||
31 | 1 | 1 | Wild Type | Wild Type | |||
32 | Wild Type | Wild Type | Wild Type | Wild Type | |||
33 | 7 | 7 | 7 | 7 | T->C | pos 5457, no aa change | 6 heterozygous, 1 homozygous |
34 | Wild Type | Wild Type | Wild Type | Wild Type | |||
35 | 7 | 7 | 7 | 7 | A->G | Intronic | 6 heterozygous, 1 homozygous |
KCNA5 | gDNA | wgaDNA | gDNA | wgaDNA | Type | Result | Additional information |
36 | 1 | 1 | 1 | 1 | C->T | pos 381, no aa change | Same patient harbouring two variants |
A->G | T155C | Same patient harbouring two variants | |||||
37 | 1 | 1 | Wild Type | Wild Type | |||
38 | Wild Type | Wild Type | Wild Type | Wild Type | |||
39 | 1 | 1 | 1 | 1 | G->A | R578K | Rare variant |
40 | 10 | 10 | Wild Type | Wild Type | |||
Total | 81 | 85 | 31 | 31 |