Table 1. Novel coding variants identified in three metachondromatosis families.

Family	A		B		C
Individual	III-10	IV-5	IV-7	III-5	III-1	II-5
Total variants*	529	388	536	1499	480	709
Coding	45	40	50	200	37	51
Not listed in dbSNP	6	12	10	167	5	7
Shared	3		1		1
Not present in unaffected family member	1		1		n/a
Genes affected and predicted protein changes	PTPN11 p.V137fs		PTPN11 p.T153fs		PTPN11 p.S118fs

*filtered to remove low confidence variants.