Exon | Mutation designation | cDNA change | Amino acid change | Mutation type | Significance | No. of cases |
---|---|---|---|---|---|---|
1 | E95X | c.283 G > T | Glu95X | nonsense | pathogenic | |
1 | P150L | c.449 C > T | Pro150Leu | missense | likely neutral | |
1 | A190T | c.568 G > A* | Ala190Thr | missense | likely neutral | 4 |
1 | 305_307dupAGG | c.305_307dupAGG | Val 103 fs | frameshift | pathogenic | |
1 | 397del44 | c.397del44 | Ser133fs | frameshift | pathogenic | |
1 | 401_410delTGGGCGCGCG | c.401_410delTGGGCGCGCG | Val134fs | frameshift | pathogenic | |
2 | W201X | c.602 G > A* | Trp201X | nonsense | pathogenic | 2 |
2 | R213X | c.637 C > T | Arg213X | nonsense | pathogenic | 2 |
IVS2 | IVS2 + 5insA | c.709 + 5insA | Leu237fs | splice | likely pathogenic | |
IVS2 | IVS2-2A > G | c.710-2A > G* | Leu237fs | splice | pathogenic | |
4 | R322Q | c.965 G > A* | Arg322Gln | missense | pathogenic | |
4 | R361X | c.1081 C > T* | Arg361X | nonsense | pathogenic | |
IVS4 | IVS4 + 1 G > A | c.1094 + 1 G > A* | Ala365fs | splice | pathogenic | |
5 | G390V | c.1169 G > T | Gly390Val | missense | pathogenic | |
6 | F482C | c.1445 T > G* | Phe482Cys | missense | likely neutral | 2 |
6 | W507X | c.1521 G > A | Trp507X | nonsense | pathogenic | |
7 | 1668dupA | c.1668dupA | Gln557fs | frameshift | pathogenic | |
IVS8 | IVS8 + 5 G > C | c.1898 + 5 G > C | Leu573fs | splice | pathogenic | |
IVS8 | IVS8 + 1 G > A | c.1898 + 1 G > A* | Leu573fs | splice | pathogenic | |
8 | Q613X | c.1837 C > T | Gln613X | nonsense | pathogenic | |
8 | C632Y | c.1895 G > A | Cys632Tyr | missense | likely pathogenic | |
10 | 2085_2087delAGCinsGG | c.2085_2087delAGCinsGG | Lys695fs | frameshift | pathogenic | |
11 | 2163dupC | c.2163dupC | Val722fs | frameshift | pathogenic | |
11 | R730Q | c.2189 G > A | Arg730Gln | missense | likely neutral | |
11 | R742X | c.2224 C > T* | Arg742X | nonsense | pathogenic | |
13 | R807Q (a) | c.2420 G > A* | Arg807Gln | missense | indeterminate | |
14 | R845X | c.2533 C > T* | Arg845X | nonsense | pathogenic | |
14 | L867P (a) | c.2600 T > C | Leu867Pro | missense | likely pathogenic | |
15 | D919N | c.2755 G > A | Asp919Asn | missense | likely pathogenic | |
1-15 | EX1_EX15del | deletion | pathogenic |