Author & year | Number of Patients | Exon | Nucleotide | Amino acid | Type | Mutation type |
---|---|---|---|---|---|---|
Park 2016 [6] | 1 | 5 | c.624_640delinsACCTCC | p.Phe208Leufs*12 | Heterogeneous | Frameshift |
2 | 11 | c.1493_1502delGCAT CACGGC | p.Arg498Profs*72 | Heterogeneous | Frameshift | |
1 | 12 | c.1795 + 2_1795 + 3delTG | Heterogeneous | Splicing error | ||
1 | 13 | c.2572_2573delGA | p.Asp858Argfs*3 | Heterogeneous | Frameshift | |
1 | 14 | c.2686G > T | p.Glu896* | Heterogeneous | Nonsense | |
1 | 15 | c.3058C > A | p.Gln1020Lys | Heterogeneous | Missense | |
1 | 15 | c.3205delG | p.Asp1069Ilefs*59 | Heterogeneous | Frameshift | |
1 | 15 | c.3440delA | p.Asp1147Valfs*79 | Heterogeneous | Frameshift | |
1 | 18 | c.3976G > T | p.Glu1326* | Heterogeneous | Nonsense | |
1 | 20 | c.4291C > T | p.Arg1431* | Heterogeneous | Nonsense | |
1 | 25 | c.5266C > T | p.Arg1756* | Heterogeneous | Nonsense | |
Xue 2020 [7] | 1 | 19 | c.4181G > A | p.W1394X | Heterogeneous | Nonsense mutation |
1 | 2 | c.211G > A | p.V71M | Heterogeneous | Missense mutation | |
2 | 23 | c.4973 + 5G > A | Splicing | Heterogeneous | Splice mutation | |
Meglic 2020 [8] | 7 | Unspecified | c.4796G > A | p.Trp1599Ter | Heterogeneous | Nonsense mutation |
Xue 2019 [9] | 2 | 23 | c.4973 + 5G > A | splicing | Heterogeneous | Splice mutation |
1 | 19 | c.4181G > A | p.W1394X | Heterogeneous | Nonsense mutation | |
1 | 2 | c.211G > A | p.V71M | Heterogeneous | Missense mutation | |
van Vuren 2019 [10] | 17 | Unspecified | Unspecified | Unspecified | Unspecified | Unspecified |
Li 2019 [11] | 1 | Unspecified | c.2413 C > T | p.Gln805* | Heterogeneous | Nonsense mutation |
Shen 2019 [12] | 1 | 23 | c.4873 C > T | p.R1625X | Heterogeneous | Nonsense mutation |
Choi 2019 [13] | 28 | Unspecified | Unspecified | Unspecified | Unspecified | Unspecified |
Shin 2018 [14] | 1 | 13 | c.1956G > A | p.Trp652* | Heterogeneous | Nonsense mutation |