Table 2 The result summary of genetic analysis showing gene mutation
RN | SN | Gene | Mutation | BASE Call | Result |
|---|---|---|---|---|---|
1 | A | ZFHX4 | G12411T L4137F | T | G12411T detected |
2 | B | GJA8_Cx50 | c.649G > A (Val196Met) | G | c.649G > A Not detected |
3 | F | FGFR2 | S267P (T-C) | T | Not detected |
3 | F | FGFR2 | C278F (G-T) | G | Not detected |
3 | F | FGFR2 | Q289P (A-C) | A | Not detected |
4 | F | FGFR2 | C342S (G-C) | – | Not detected |
4 | F | FGFR2 | C342Y (G-A) | – | Not detected |
4 | F | FGFR2 | C342W (C-G) | – | Not detected |
4 | F | FGFR2 | A344A (G-A) | – | Not detected |
4 | F | FGFR2 | S347C (C-G) | – | Not detected |
5 | D | STRA6 | T > C P.Y374C | C | T > C P.Y374C detected |
6 | D | STRA6 | A > T P.L152M | T | L152L present, mutation not detected. |
7 | D | CRYBA4 | C > T P.R25W | C | Mutation not detected |
8 | D | OTX2 | p. Gln104 X | C | p. Gln104 X Not detected |
8 | D | OTX2 | p. Gln106 His | C | p. Gln106 His Not detected |
9 | D | OTX2 | p. Thr186 Fs < frame shift | G | p. Thr186 Fs < frame shift Not detected |
10 | C | ABCB6 | p. Ala 57 Thr G > A | G | p. Ala 57 Thr G > A Not detected |