Table 2.

Truncating mutations in the C-propeptide region of COL2A1

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
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]