Table 2.
Sr. no | Gene | NM. DNA | Protein | Nature | No. patients |
---|---|---|---|---|---|
1 | BRCA1 | NM_007294.4 | p.Cys61Gly | Pathogenic | 10 |
c.181T>G | |||||
2 | NM_007294.4 | p.Ala819fs | Pathogenic | 10 | |
c.2457delC | |||||
3 | NM_007294.4 | p.Leu1786Arg | Benign | 13 | |
c.5357T>G | |||||
4 | NM_007294.4 | p.Leu371Pro | Benign | 11 | |
c.1111T>C | |||||
5 | NM_007294.4 | p.Thr401Arg | Benign | 15 | |
c.1201C>G | |||||
6 | BRCA2 | NM_000059.4 | p.Val2092fs | Pathogenic | 10 |
c.6275_6276del | |||||
7 | NM_007294.4 | p.Met1783Leu | Benign | 17 | |
c.5347A>T | |||||
8 | NM_007294.4 | p.Asp1733Gly | Benign | 21 | |
c.5198A>G | |||||
9 | NM_007294.4 | p.Thr1720Ala | Benign | 34 | |
c.5158A>G | |||||
10 | NM_007294.4 | p.Gly1706Ala | Benign | 12 | |
c.5117G>C | |||||
11 | TP53 | NM_000546.6 | p.Glu339Ter | Pathogenic | 10 |
c.1014_1015insT | |||||
12 | NM_000546.6 | p.Arg306Ter | Pathogenic | 10 | |
c.916C>T | |||||
13 | NM_000546.6 | p.Ser104Pro | Benign | 8 | |
c.311T>C | |||||
14 | NM_000546.6 | p.Arg377Cys | Benign | 9 | |
c.1129C>T | |||||
15 | PMS2 | NM_000535.7 | p.Thr511Met | Benign | 5 |
c.1532C>T | |||||
16 | NM_000535.7 | p.Thr511Ala | Benign | 11 | |
c.1531A>G | |||||
17 | NM_000535.7 | p.Lys484Lys | Benign | 12 | |
c.1452G>A | |||||
18 | NM_000535.7 | p.Asn668Ser | Benign | 11 | |
c.2002A>G | |||||
19 | NM_000535.7 | p.Lys728Lys | Benign | 3 | |
c.2184G>A | |||||
20 | NM_000535.7 | p.Glu748Glu | Benign | 11 | |
c.2244T>C | |||||
21 | NM_000535.7 | p.Ile841Va | Benign | 1 | |
c.2522A>G | |||||
22 | NM_000535.7 | p.Leu855Leu | Benign | 5 | |
c.2565G>A | |||||
23 | NM_000535.7 | p.Ser878Ser | Benign | 7 | |
c.2634T>C | |||||
24 | NM_000535.7 | p.Pro908Pro | Benign | 4 | |
c.2724C>T | |||||
25 | NM_000535.7 | p.Ala916Ala | Benign | 13 | |
c.2748C>T | |||||
26 | NM_000535.7 | p.Tyr969Tyr | Benign | 21 | |
c.2907T>C | |||||
27 | NM_000535.7 | p.Gln1001Gln | Benign | 12 | |
c.3003G>A | |||||
28 | NM_000535.7 | p.Ser1048Ser | Benign | 23 | |
c.3144T>C | |||||
29 | NM_000535.7 | p.Asp1072Asp | Benign | 2 | |
c.3216C>T | |||||
30 | NM_000535.7 | p.Leu1092Leu | Benign | 1 | |
c.3276G>A | |||||
31 | NM_000535.7 | p.Val1140Val | Benign | 6 | |
c.3420T>C | |||||
32 | NM_000535.7 | p.Arg1193Arg | Benign | 11 | |
c.3579A>G | |||||
33 | NM_000535.7 | p.Pro1240Pro | Benign | 14 | |
c.3720C>T | |||||
34 | NM_000535.7 | p.Glu1267Glu | Benign | 16 | |
c.3801G>A | |||||
35 | NM_000535.7 | p.Ile1300Ile | Benign | 12 | |
c.3900A>G |