Table 3.
Number | Case number | Exon | Nucleotide change | Amino acid change |
---|---|---|---|---|
1 | 6T | 19 | c.2189T>C | p.L730P |
2 | 2T | 19 | c.2224G>A | p.V742I |
3 | 17T | 19 | c.2269A>G | p.K757E |
4 | 3T | 20 | c.2339T>C | p.I780T |
5 | 30T | 20 | c.2423A>G | p.N808S |
6 | 30T | 21 | c.2491C>T | p.R831C |
7 | 15T | 21 | c.2552T>C | p.V851A |
8 | 30T | 22 | c.2690T>C | p.V897A |
9 | 45T | 23 | c.2734T>C | p.S912P |
10 | 56T | 23 | c.2810C>T | p.P937L |
11 | 36T | 23 | c.2818A>G | p.T940A |
12 | 5T | 23 | c.2839A>G | p.M947V |
13 | 41T | 23 | c.2840T>C | p.M947T |