No. | Variant location | Nucleotide change | Predicted protein change | Clinical diagnosis | Reference |
---|---|---|---|---|---|
1 | Exon 52 | c.3906del | p.Asn1303Thrfs*9 | STL1 | Hoornaert et al. [12] |
2 | Exon 52 | c.3891_3898dup | p.Ile1300Thrsfs*15 | STL1 | Hoornaert et al. [12] |
3 | Intron 52 | c.4074 + 1G > T | p.Trp1348Cysfs*17 | STLI | Hoornaert et al. [12] |
4 | Exon 52 | c.3978delC | p.Asn1327Ilefs*49 | STLI | Ahmad et al. [13] |
5 | Exon 52 | c.3957del | p.Gly1320Alafs*56 | STL1 | Annunen et al. [14] |
6 | Exon 53 | c.4088del | p.Asp1363Valfs*13 | Early-onset OA | Barat-Houari et al. [15] |
7 | Exon 53 | c.4161_4165del | p.Gln1387Hisfs*30 | This report | Â |
8 | Exon 53 | c.4300del | p.Leu1434* | SPPD | Barat-Houari et al. [15] |
9 | Exon 53 | c.4287_4291dup | p.Tyr1431Serfs*6 | SPPD | Zabel et al. [16] |
10 | Exon 53 | c.4314C > A | p.Cys1438* | SPPD | Zankl et al. [3] |
11 | Exon 54 | c.4335G > A | p.Trp1445* | PLSDT | Zankl et al. [2] |
12 | Exon 54 | c.4339A > T | p.Lys1447* | SPPD | Bedeschi et al. [17] |
13 | Exon 54 | c.4332del | p.Lys1444Asnfs*27 | SPPD | Zhang et al. [18] |
14 | Exon 54 | c.4337del | p.Gly1446Alafs*25 | SPPD | Zankl et al. [3] |
15 | Exon 54 | c.4357del | p.Arg1453Glyfs*18 | SPPD | Meredith et al. [19] |
16 | Exon 54 | c.4423C > T | p.Gln1475* | PLSDT | Zankl et al. [2] |
17 | Exon 54 | c.4413_4416del | p.Gly1472Profs*9 | PLSDT | Nishimura et al. [20] |