TABLE 2.

Identified non-synonymous changes in GH1-CSHL1-CSH1-GH2-CSH2 genes

Gene	SNPa	Exon	Amino acid change	SP/ MPb	Samplec	MAFd (%)
GH1	g.863T>A	2	p.Phe51Tyr	MP	M	8.3
	g.1166G>C	3	p.Glu82Aspe p.Glu67Aspf	MP	M	2.1
CSHL1h	g.457G>A	1	p.Ala3Thr	na	H	2.0
	g.1394C>T/g.1395C>G	4	p.Thr127Met	na	H	2.0
	g.1399A>G	4	p.Thr129Gly	na	H	2.0
	g.1437C>A	4	p.Asp141Glu	na	E M H	46.0 4.2 30.0
CSH1	g.733G>A	2	p.Arg6Trp	SP	M	6.3
	g.1114A>G	3	p.Glu58Gly	MP	M	4.2
	g.1158G>A	3	p.Asp73Asn	MP	M	4.2
	g.1537C>A	4f	p.Ser168Xf	MP	M	4.2
	g.1557T>C	4f	p.Tyr175Hisf	MP	M	4.2
	g.1573T>G	4f	p.Phe180Cysf	MP	M	4.2
	g.1581A>C	4f	p.Lys183Glnf	MP	M H	4.2 2.0
	g.1632C>A	4f	p.Pro200Thrf	MP	M	4.2
	g.1642T>C	4f	p.Leu203Prof	MP	M H	4.2 2.0
	g.1679A>G	4f	p.Ile215Metf	MP	M	4.2
	g.1912C>A	5	p.Cys208X	MP	M	2.1
GH2	g.1331G>A	4	p.Arg103His	MP	M	2.5
	g.1369G>T	4	p.Val116Leu	MP	H	2.0
	g.1744T>C	4f/5g	p.Trp241Argf p.Met155Thrg	MP	E	6.0
	g.2002C>G	5	p.Pro241Alag	MP	M	7.5
CSH2	g.1150C>A	3	p.Phe70Leue,f	MP	H	28.0

^aA full description of each SNP in available in Supplementary Table S2. Reference sequences for each resequenced gene region are in Supplementary Fig. 3

^bSP – signal peptide/MP – mature peptide; na – not applicable

^cE-Estonians, M-Mandenkalu, H-Chinese Han

^dMAF – minor allele frequency

^eAmino acid change specific to either isoform 1 precursor (see Supplementary Fig. S2)

^fAmino acid change specific to either isoform 2 precursor (see Supplementary Fig. S2)

^gAmino acid change specific to either isoform 3 precursor (see Supplementary Fig. S2)

^hChanges in CSHL1 are shown based on the predicted hypothetical protein