Table 3. LIPG, CETP, and GALNT2 mutations.

Gene	Mutation		Novel?	# of occurrences		Vertebrate conservation	Predicted effect
	Position (hg18)	Effect		HDLc≥90th %ile	HDLc≤10th %ile
LIPG	Chr18:45347918 C>del	L130F-FS	Yes	1	0	Completely conserved	Truncates protein
	Chr18:45355751 G>A	G196R	Yes	1	0	Completely conserved	Probably damaging (Polyphen)
	Chr18:45355825 C>G	H220Q	Yes	1	0	Completely conserved	Probably damaging (Polyphen)
	Chr18:45362846 G>T	E388X	Yes	2	0	Completely conserved	Truncates protein
	Chr18:45363953 A>G	N396S	No [23]	11	2	Completely conserved	Possibly damaging (Polyphen)
	Chr18:45367163 C>T	R476W	No [17]	6	1	Lys, Gln tolerated	Possibly damaging (Polyphen)
CETP	Chr16:55562795 G>T	IVS7+1 G>T	No [16]	1	0	Completely conserved	Abolishes splice donor site (Spliceview)
GALNT2	Chr1:228438359 A>G	IVS3-24 A>G	Yes	1	0	Completely conserved	Introduces ectopic splice acceptor site (Spliceview)
	Chr1:228445715 A>T	Q216H	Yes	2	0	Completely conserved	Possibly damaging (Polyphen)
	Chr1:228452861 A>C	D314A	No [28]	1	0	Completely conserved	Possibly damaging (Polyphen)