Table 2.
Exon | DNA level | Protein level | Occurrence in this work (chromosome) | Control (chromosome) | References |
---|---|---|---|---|---|
Exon 3 |
c.145C>T |
p.R49W |
5/320 |
10/238 |
[13] |
Exon 3 |
c.157G>A |
p.A53T |
2/320 |
3/238 |
[23,24] |
Exon 3 |
c.158C>T |
p.A53V |
42/320 |
110/238 |
[23] |
Exon 4 |
c.244C>T |
p.R82C |
14/320 |
27/376 |
[23] |
Exon 21 |
c.2452C>T |
p.R818W |
1/320 |
3/356 |
[12] |
Exon 40 | c.5026C>T | p.R1676C | 1/320 | 3/356 | [21] |