Table 1. Pathogenic mutations of COL2A1 or COL11A1 detected in the 12 probands with eoHM.

Gene	Patient	Position		Exon/	Nucleotide	Amino Acid	Status	Computational Prediction		dbSNP	Novel or
	ID	Chr	Position	Intron	variant	Change		PPH2/BDGP	SIFT		Reported
COL2A1	HM992	chr12	48,380,410	Exon 45	c.3138delT	p.P1046fs	Het	/	/	rs121912873	Novel
	HM304	chr12	48,380,792	IVS 44	c.3111+1G>A	/	Het	DL	/	None	Reported
	HM894	chr12	48,380,855	Exon 44	c.3049delG	p.G1017fs	Het	/	/	None	Novel
	HM862	chr12	48,372,481	Exon 42	c.2794C>T	p.R932*	Het	/	/	rs121912866	Reported
	HM918	chr12	48,375,892	Exon 33	c.2128C>T	p.R785*	Het	/	/	None	Reported
	HM842	chr12	48,377,504	Exon 30	c.1957C>T	p.R653*	Het	/	/	rs121912893	Reported
	HM951	chr12	48,377,504	Exon 30	c.1957C>T	p.R653*	Het	/	/	rs121912893	Reported
	HM849	chr12	48,378,777	IVS 27	c.1833+1G>A	/	Het	SSA	/	None	Reported
	HM1000	chr12	48,379,358	Exon 26	c.1693C>T	p.R565C	Het	PrD	D	rs121912884	Reported
	HM820	chr12	48,380,672	IVS 21	c.1366–1G>C	/	Het	SSA	/	None	Reported
COL11A1	HM813	chr01	103,355,027	Exon 59	c.4484G>A	p.G1495E	Het	PrD	D	None	Reported
	HM878	chr01	103,385,883	Exon 49	c.3782G>T	p.G1261V	Het	PrD	D	None	Reported

Note: these mutations were not present in the 1000G, EVS, or ExAC databases. Chr, chromosome; Het, heterozygous; PPH2, PolyPhen-2, not applicable for truncation mutations; DL, donor loss; SSA, splicing site abolished; PrD, probably damaging; D, damaging; PPH2, PolyPhen; BDGP; SIFT; 1000G; EVS.