Table II.
Amino acid mutation | DNA mutation | No. cases |
---|---|---|
Mutations in uncommon codons | ||
p.G12_G13insAG | c.35_36insAGCTGG | 1 |
p.E49K | c.145G>A | 1 |
p.A59E | c.176C>A | 1 |
p.K117N | c.351A>T | 1 |
p.A146T | c.436G>A | 3 |
Coexistent multiple mutations | ||
p.G12D+p.Q61H | c.35_36GT>AC + c.183A>C | 1 |
p.G12D+p.Q61L | c.35_36GT>AC + c.182A>T | 1 |
p.G13V+p.Q61H | c.38G>T + c.183A>C | 1 |