Table 2.

Pathogenic and likely pathogenic mutations in PAH-related genes except for EIF2AK4

Patient	Gene	Transcript	Exon/Intron	Nucleotide change	Protein change	De novo	Pathogenicity	Ref PMID	MAF
PAH1	BMPR2	NM_001204	exon5	c.551dupA	p.His184fs	NA	P	NA	NA
PAH10	BMPR2	NM_001204	exon6	c.793_796del	p.Glu265fs	NA	P	NA	NA
PAH17	BMPR2	NM_001204	exon6	c.631C > T	p.Arg211Term	NA	P	NA	NA
PAH25	ACVRL1	NM_001077401	exon6	c.994A > T	p.Lys332Term	NA	P	NA	NA
PAH27	BMPR2	NM_001204	exon3	c.338dupA	p.Tyr113_Arg114delinsTerm	NA	P	NA	NA
PAH31	BMPR2	NM_001204	exon4	c.439C > T	p.Arg147Term	NA	P	11,115,378	8.96 × 10−6
PAH34	BMPR2	NM_001204	exon6	c.705delA	p.Asn236fs	NA	P	NA	NA
PAH39	NOTCH3	NM_000435	exon11	c.1493–2- > C		NA	P	NA	9.78 × 10−5
PAH42	BMPR2	NM_001204	exon7	c.893delG	p.Val299Term	NA	P	NA	NA
PAH43	BMPR2	NM_001204	exon1	c.71_76del	p.24_26del	NA	LP	NA	NA
PAH46	BMPR2	NM_001204	exon6	c.631C > T	p.Arg211Term	De novo	P	11,115,378	NA
PAH47	BMPR2	NM_001204	exon12	c.2567delC	p.Thr856fs	NA	P	NA	NA
PAH51	BMPR2	NM_001204	exon10	c.1372C > T	p.Gln458Term	NA	P	21,737,554	NA
PAH67	BMPR2	NM_001204	exon7	c.944 T > C	p.Leu315P	De novo	LP	NA	NA
PAH75	BMPR2	NM_001204	exon8	c.1089delG	p.Val364fs	Inherited	P	NA	NA
PAH76	BMPR2	NM_001204	exon1	c.47G > A	p.Trp16Term	NA	P	15,687,131	NA
PAH86	ACVRL1	NM_001077401	exon9	c.1450C > T	p.Arg484Trp	De novo	P	11,484,689	NA
PAH95	ENG	NM_000118	exon3	c.247C > T	p.Gln83Term	NA	P	15,517,393	NA
PAH98	BMPR2	NM_001204	exon6	c.631C > T	p.Arg211Term	NA	P	11,015,450	NA
PAH102	BMPR2	NM_001204	exon12	c.1730 T > A	p.Leu577Term	NA	LP	NA	NA
PAH110	BMPR2	NM_001204	exon11	c.1471C > T	p.Arg491Trp	NA	LP	NA	NA
PAH117	BMPR2	NM_001204	exon2	c.178 T > C	p.Cys60Arg	NA	LP	NA	NA
PAH123	BMPR2	NM_001204	intron3	c.418 + 4A > G		NA	LP	NA	NA
PAH137	ACVRL1	NM_001077401	exon9	c.1450C > T	p.Arg484Trp	NA	P	11,484,689	NA
PAH138	BMPR2	NM_001204	exon9	c.1249insAT	p.Phe417fs	NA	P	NA	NA
PAH143	BMPR2	NM_001204	exon12	c.1789C > T	p.Arg597Term	NA	P	NA	NA
PAH150	BMPR2	NM_001204	exon8	c.994C > T	p.Arg332Term	NA	P	11,015,450	NA
PAH153	BMPR2	NM_001204	exon12	c.2617C > T	p.Arg873Term	NA	P	10,903,931	NA
PAH155	BMPR2	NM_001204	exon12	c.1789C > T	p.Arg597Term	NA	P	NA	NA
PAH159	BMPR2	NM_001204	exon12	c.2470C > T	p.Gln824Term	Inherited	LP	NA	NA
PAH163	BMPR2	NM_001204	exon12	c.2522 delA	p.His841fs	NA	P	18,356,561	NA
PAH166	BMPR2	NM_001204	exon12	c.2710_2831dup	p.Ala945fs	NA	P	NA	NA
PAH168	ENG	NM_000118	exon12	c.1503_1504insG	p.Gly501fs	NA	P	NA	NA
PAH176	BMPR2	NM_001204	exon6	c.631C > T	p.Arg211Term	NA	P	11,015,450	NA
PAH177	BMPR2	NM_001204	exon6	c.631C > T	p.Arg211Term	NA	P	11,015,450	NA
PAH178	BMPR2	NM_001204	exon6	c.713_714del	p.238_238del	Inherited	LP	NA	NA
PAH182	ACVRL1	NM_001077401	exon7	c.1232G > A	p.Arg411Gln	Inherited	LP	8,640,225	6.55 × 10−5
PAH183	BMPR2	NM_001204	intron6	IVS6 + 3A > C		NA	LP	NA	NA
PAH184	BMPR2	NM_001204	exon4	c.439C > T	p.Arg147Term	NA	LP	11,115,378	8.96 × 10−6
PAH187	BMPR2	NM_001204	exon8	c.1089delG	p.Leu363fs	NA	P	NA	NA
PAH188	ACVRL1	NM_001077401	exon7	c.1121G > A	p.Arg374Gln	NA	LP	12,700,602	4.49 × 10− 5
PAH189	ACVRL1	NM_001077401	exon3	c.372delC	p.Gly124fs	De novo	P	NA	NA
PAH192	BMPR2	NM_001204	exon12	c.2268_2269insA	p.Thr756fs	NA	P	NA	NA
PAH194	BMPR2	NM_001204	exon9	c.1243G > A	p.Glu415Lys	NA	LP	NA	NA
PAH195	BMPR2	NM_001204	exon9	c.1161delG	p.Val387fs	De novo	P	NA	NA
PAH207	BMPR2	NM_001204	exon7	c.901 T > C	p.Ser301Pro	De novo	LP	16,429,395	NA

fs frame shift, NA not available, LP likely pathogenic, P pathogenic, ref. PMID reference PubMed unique identifier, MAF minor allele frequency in the Genome Aggregation Database (gnomAD)