DNA nucleotide change | Protein amino acid change | References | |
---|---|---|---|
1 | c.1465G>A | p.Glu489Lys | |
2 | c.1615_1617delATT | p.Ile539del | |
3 | c.1892G>A | p.Arg631Gln | [24] |
4 | c.1906_1907delAA | p.Asn636ProfsTer17 | [24] |
5 | c.1906_1907insC | p.Asn636Thrfs*18 | [1] |
6 | c.1929_1933delTGGCA | p.Asp643Aspfs*8 | [8] |
7 | c.1943dupT | p.Arg649ProfsTer5 | |
8 | c.1945C>T | p.Arg649Trp | |
9 | c.1971T>G | p.Tyr657Ter | |
10 | c.1956dupT | p.Lys653* | newly described |