Table 4. Gene mutations in Chinese CTEPH patients and PE without PH patients.

Patientsnumber	Group	Gene	Location	Nucleotide change	Amino acid change	Mutation type
54	CTEPH	BMPR2	5’-UTR	c.-93A>G	p.?	VUS
183	PE without PH		Exon3	c.292G>A	Glu98Lys	Missense
101	CTEPH		Exon11	c.1569T>C	Thr523Thr	Synonymous
281	CTEPH		Exon12	c.1739G>T*	Gly580Val	Missense
198	CTEPH		Exon12	c.2030T>A*	Let677His	Missense
275	CTEPH		Exon12	c.2006A>G*	Asp669Gly	Missense
285	CTEPH		Exon12	c.2325C>A	Ser775Arg	Missense
248	CTEPH		Exon12	c.2357C>G*	Thr786Ser	Missense
121	CTEPH		Exon12	c.2663T>G	Val888Gly	Missense
198	CTEPH	ENG	Intron13	c.111+62A>G	p.?	VUS
77	CTEPH		3’-UTR	c.124+277A>G	p.?	VUS
248	CTEPH	ACVRL1	Exon5	c.583C>T*	Gln195Trp	Missense
198	CTEPH		Exon8	c.1196G>T*	Trp399Leu	Missense
2	CTEPH		Exon10	c.1450C>G*	Arg484Gly	Missense
191	CTEPH		Exon10	c.1450C>G*	Arg484Gly	Missense
263	CTEPH		Exon10	c.1450C>G*	Arg484Gly	Missense
285	CTEPH		Exon10	c.1450C>G*	Arg484Gly	Missense
274	CTEPH	KCNK3	Exon1	c.92C>A*	Ser31Trp	Missense
117	PE without PH		Exon2	c.414C>T	Tyr138Tyr	Synonymous
262	CTEPH	CBLN2	3’-UTR	c.200+108G>C	?	VUS
285	CTEPH		3’-UTR	c.200+630T>C	?	VUS
211	PE without PH		Exon5	c.648T>C	Phe216Phe	Synonymous
285	CTEPH	SMAD9	5’-UTR	c.-98C>T	?	VUS
278	CTEPH		Exon2	c.260T>A*	Leu87Gln	Missense
285	CTEPH		Exon3	c.521A>G*	Asn174Ser	Missense
235	CTEPH	CAV1	5’-UTR	c.-106A>G	p.?	VUS
235	CTEPH		5’-UTR	c.-17T>C	p.?	VUS
287	CTEPH		Exon2	c.76A>G	Lys26Glu	Missense
263	CTEPH		Exon3	c.387A>G	Ala129ALa	Synonymous
191	CTEPH		Exon3	c.462C>T	Thr154Thr	Synonymous
124	CTEPH		3’-UTR	c.341+274A>T	p.?	VUS

CTEPH: chronic thromboembolic pulmonary hypertension; PE: pulmonary embolism; PH: pulmonary hypertension; UTR: untranslated region; VUS: variant of unknown significance. Numbering is based on +1 as A of the ATG initiation codon.

*: missense mutation predicted to be probably damaging by Polyphen-2 software.