Table 2. Description of BMPR2 mutation-positive genes.

Patient	Classification	Location	Mutation type	Nucleotide change	Protein change	Reference Number
1	idiopathic	exon 6	nonsense	c.631C>T	p.Arg211X	[10]
2	idiopathic	exon 8	nonsense	c.994C>T	p.Arg332X	[10]
3	idiopathic	exon 12	nonsense	c.2695C>T	p.Arg899X	[4]
4	idiopathic	5’UTR-exon1	deletion	c.1-1_8del	p.?	novel
5	idiopathic	exon 9	missense	c.1258T>C	p.Cys420Arg	[26]
6	heritable	exon 4	deletion	c.451del	p.Ile151fs	novel
7	idiopathic	exon 8	deletion	c.1042-1047del	p.Val348_Ile349del	novel
8	heritable	intron 5	splice site	c621+1G>T	p.?	novel
9	heritable	exon 8	deletion	c.1028del	p.Asn343fs	novel
10	heritable	intron6	splice site	c.853-2A>C	p.?	novel
11	heritable	exon12	nonsense	c.2695C>T	p.Arg899X	[4]
12	heritable	exon11	deletion	c.1448delGT	p.Cys483fs	novel
13	idiopathic	exon 6	nonsense	c.846T>G	p.Tyr282X	novel
14	idiopathic	exon 9	missense	c.1226T>C	p.Leu409Pro	novel
15	heritable	exon11	missense	c.1471C>T	p.Arg491Trp	[28]
16	idiopathic	exon 8	nonsense	c.994C>T	p.Arg332X	[10]

Abbreviation: UTR, untranslated region