Table 4.

Variants found in genes involved in the BMP signaling pathway via WES

Gene	SNV	Allele Frequency, %	Function	AA Switch	AA Position	Affected Carriers
BMPR2	rs2228545	3.92	Missense	Ser→Asn	775	2
BMP3	rs6831040	1.0	Missense	Leu→Phe	205	18
BMP1	rs11996036	5.7	Missense	Val→Ile	719	1
BMPR1A	rs3182217	35.6	Missense	Pro→Thr	657	7
BMP4	rs17563	55.6	Missense	Val→Ala	152	16
SMAD9	rs111748421	0.23	Missense	Leu→Pro	22	1
SMAD3	rs35874463	5.2	Missense	Ile→Val	170	1
SMAD7	rs3764482	19.15	Missense	Ser→Phe	28	4

BMP, bone morphogenetic protein; BMPR, bone morphogenetic protein receptor; SMAD, S-mother against decapentaplegic.