Patient number | Mutation type | Exon/intron | Nucleotide change | Protein change | Literature |
---|---|---|---|---|---|
1 | Missense | Exon 21 | c.2290_2291delinsCT | p.Glu764Leu | Dai et al. [10] |
2 | Missense | Exon 23 | c.2581G > A | p.Ala861Thr | Dai et al. [10] |
3 | Missense | Exon 14 | c.1423C > T | p.Pro475Ser | Zheng et al. [11] |
4 | Missense | Exon 15 | c.1502 T > G | p.Ile501Ser | Zheng et al. [11] |
5 | Nonsense | Exon 22 | c.2464C > T | p.Arg822Ter | Zheng et al. [11] |
6 | Complex | Exon 22 | c.2368_2368delG, c.2370A > C | p.Ala790Profs*34 | Zhou et al. [12] |
7 | Microdeletion (249 kb) | – | [hg19]arrXq25q26.1 (128,652,372–128,901,629) × 0 | – | Zhang et al. [13] |
8 | Deletion | Exon 14 | c.1389delT | p.Phe463Leufs*57 | Song et al. [14] |
9 | Nonsense | Exon 11 | c.1000C > T | p.Arg334Ter | Gao et al. [15] |
10 | Nonsense | Exon 18 | c.2083C > T | p.Arg695Ter | Gao et al. [15] |
11 | Nonsense | Exon 8 | c.577G > T | P.Glu193Ter | Zhang et al. [16] |
12 | Microdeletion (633 kb) | – | [hg19]arrXq25q26.1 (128,155,802–128,789,721) × 0 | – | Zhu et al. [17] |
13 | Nonsense | Exon 15 | c.1528C > T | p.Gln510Ter | Gao et al. [18] |
14 | Insertion | Exon 20 | c.2187dupG | p.Arg730Glufs*41 | Gao et al. [18] |
15 | Nonsense | Exon 14 | c.1366C > T | p.Gln456Ter | Gao et al. [18] |
16 | Missense | Exon 15 | c.1499G > A | p.Arg500Gln | Gao et al. [18] |
17 | Deletion | Exon 13 | c.1281_1282delTT | p.Cys428Hisfs*2 | Li et al. [19] |
18 | Insertion | Exon 22 | c.2367insA | p.Ala813Ter | Liu et al. [20] |
19 | Splicing | Intron 20 | c.2437 + 2_2437 + 4delTAAinsC | – | Ji et al. [21] |
20 | Deletion | Exon 5 | c.321delC | p.Leu108Serfs*29 | Ji et al. [21] |
21 | Complex | Exon 8 Exon 22 | c.562C > T c.2464C > T | p.Leu188Phe p.Arg822Ter | Chen et al. [22] |
22 | Missense | Exon 15 | c. 1571A > G | p.His524Arg | Shi et al. [23] |
23 | Deletion | Exon 18 | c.1897delT | p.Ser633Leufs*11 | Zhang et al. [24] |
24 | Deletion | Exon 15 | c.1470delG | p.Lys491Asnfs*29 | Zhang et al. [24] |
25 | Missense | Exon 15 | c.1538A > G | p.Tyr513Cys | Zhang et al. [24] |
26 | Nonsense | Exon 10 | c.880G > T | p.Glu294Ter | Ke et al. [25] |
27 | Insertion | Exon 24 | c.2626dupA | p.Met876Asnfs*8 | Ke et al. [25] |
28 | Insertion | Exon 20 | c.2146_2147insTT | p.Ser716Phefs*27 | Chen et al. [26] |
29 | Deletion | Exon 8 | c.659_662delAGGG | p.E220Vfs*29 | This report |
30 | Splicing | Intron 20 | c.2257-2A > T | – | This report |