Family ID | Sample ID | Gender | Diagnosis | Age at diagnosis (y.o.) | mPAPa (mmHg) | CIb (L/min/m2) | PVRc (dyne·sec/cm5) | Chromosome | Position | Gene | Exon | Nucleotide changed | Amino acid changed | rs ID | Polyphen | Mutation taster | LRT | PhyloP | MaxEnt scan | Human splice finder | Quality scoree | Referencef |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | OM0054 | F | HPAH | 23 | 81 | 2.3 | 1623 | 2 | 26,950,859 | KCNK3 | 2 | c.608G > A | p.Gly203Asp | - | 1.000 | 1.000 | 0.000 | 2.407 | N.A. | N.A. | 179.78 | Ma et al.[11], HPAH |
2 | OM0070 | F | HPAH | 23 | 55 | 1.8 | 1446 | 2 | 203,417,496 | BMPR2 | 11 | c.1471C > T | p.Arg491Trp | rs137852746 | 1.000 | 1.000 | 0.000 | 2.582 | N.A. | N.A. | 854.18 | Deng et al.[1], H/IPAH |
2 | OM0071 | F | HPAH | 27 | 59 | 1.8 | 1371 | 2 | 203,417,496 | BMPR2 | 11 | c.1471C > T | p.Arg491Trp | rs137852746 | 1.000 | 1.000 | 0.000 | 2.582 | N.A. | N.A. | 854.18 | Deng et al.[1], H/IPAH |
3 | OM0095 | F | HPAH | 30 | 62 | 2.7 | 730 | 2 | 203,242,213 | BMPR2 | 1 | c.16C > T | p.Gln6* | - | - | N.A. | N.A. | N.A. | N.A. | N.A. | 772.78 | Momose et al.[6], HPAH |
4 | OF0001 | M | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||
4 | OF0002 | F | - | - | - | 2 | 203,407,024 | BMPR2 | 10 | c.1277–10_1277–9insGGG | splicing | - | - | N.A. | N.A. | N.A. | 235.06 | 216.94 | 1932.84 | - | ||
4 | OF0003 | M | - | - | - | 2 | 203,407,024 | BMPR2 | 10 | c.1277–10_1277–9insGGG | splicing | - | - | N.A. | N.A. | N.A. | 235.06 | 216.94 | 1932.84 | - | ||
4 | OM0106 | F | HPAH | 27 | 47 | 3.0 | 609 | 2 | 203,407,024 | BMPR2 | 10 | c.1277–10_1277–9insGGG | splicing | - | - | N.A. | N.A. | N.A. | 235.06 | 216.94 | 1932.84 | - |
5 | OM0079 | F | HPAH | 29 | 50 | 1.6 | 1556 | 2 | 203,417,465 | BMPR2 | 11 | c.1443_1445delAGA | p.Glu481del | - | - | N.A. | N.A. | N.A. | N.A. | N.A. | 600.26 | - |
5 | OM0195 | M | HPAH | 61 | 67 | 1.3 | 2234 | 2 | 203,417,465 | BMPR2 | 11 | c.1443_1445delAGA | p.Glu481del | - | - | N.A. | N.A. | N.A. | N.A. | N.A. | 600.26 | - |
6 | OM0104 | F | HPAH | 23 | 67 | 2.1 | 1257 | 2 | 203,417,494 | BMPR2 | 11 | c.1469C > T | p.Ala490Val | - | 1.000 | 1.000 | 0.000 | 2.582 | N.A. | N.A. | 598.10 | Machado et al.[4], IPAH |
6 | OM0178 | M | HPAH | 34 | 63 | 3.3 | 522 | 2 | 203,417,494 | BMPR2 | 11 | c.1469C > T | p.Ala490Val | - | 1.000 | 1.000 | 0.000 | 2.582 | N.A. | N.A. | 598.10 | Machado et al.[4], IPAH |
7 | OM0065 | F | HPAH | 26 | 47 | 3.5 | 636 | 2 | 203,331,443 ~ 203,338,403 | BMPR2 | 3 | NC_000002.11:g.(203331913_203331917)_(203338441_203338445)del | exon 3 deletion | - | - | N.A. | N.A. | N.A. | N.A. | N.A. | N.A. | - |
8 | OM0188 | F | HPAH | 36 | 70 | 1.9 | 1720 | 2 | 203,384,808 | BMPR2 | 7 | c.853-2A > G | splicing | N.A. | N.A. | N.A. | −85.96 | −34.14 | 341.83 | Machado et al.[4], IPAH | ||
9 | OM0250 | F | HPAH | 27 | 50 | 2.6 | 720 | 2 | 203,329,626 | BMPR2 | 2 | c.174_175dup | p.Leu59Tyrfs*20 | - | - | N.A. | N.A. | N.A. | N.A. | N.A. | 940.89 | - |
9 | OM0251 | M | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||
9 | OM0252 | F | - | - | - | 2 | 203,329,626 | BMPR2 | 2 | c.174_175dup | p.Leu59Tyrfs*20 | - | - | N.A. | N.A. | N.A. | N.A. | N.A. | 940.89 | - |