Table 4.
List of novel variants selected for capillary sequencing confirmation
| Chr. | Positiona | Allele change | Amino acid change | Amino acid positionb | Gene name | Gerp1c | Gerp2d | Mutation effect | Patient pool NRA% | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | |||||||||
| 1 | 218520046 | G/A | MET/ILE | 1/443 | TGFB2 | 2.82 | 1.165 | Non-synonymous coding | 12 | 13 | 11 | 11e | 8 |
| 2 | 33477855 | G/C | CYS/SER | 378/1397 | LTBP1 | 2.82 | 2.171 | Non-synonymous coding | 8 | 16 | 13 | 15e | - |
| 3 | 30732960 | C/A | PRO/THR | 550/593 | TGFBR2 | 2.9 | 2.094 | Non-synonymous coding | 7e | – | – | – | – |
| 3 | 148459750 | A/T | LYS/stop | 310/360 | AGTR1 | No score | No score | Stop-gained | – | – | – | 3e | – |
| 5 | 68555715 | A/C | LYS/THR | 160/347 | CDK7 | 2.82 | 1.788 | Non-synonymous coding | – | 14 | – | 15e | – |
| 7 | 150698940 | A/G | THR/ALA | 512/1204 | NOS3 | 2.32 | 1.41 | Non-synonymous coding | 10e | 5 | – | 7 | 5 |
| 9 | 101891203 | T/G | PHE/CYS | 55/427 | TGFBR1 | 2.9 | 1.796 | Non-synonymous coding | 5 | 5 | 8 | 6e | 5 |
| 9 | 101891219 | G/C | GLU/ASP | 60/427 | TGFBR1 | 1.96 | 1.601 | Non-synonymous coding | – | – | 6e | 4 | – |
| 9 | 101894941 | C/T | SER/LEU | 165/504 | TGFBR1 | 2.9 | 1.614 | Non-synonymous coding | 5 | – | 4e | – | 3 |
| 12 | 52309230 | A/T | LYS/stop | 332/504 | ACVRL1 | 1.95 | 1.444 | Stop-gained | – | 6 | 5e | – | 3 |
| 12 | 68707507 | T/C | LYS/ARG | 509/715 | MDM1 | −1.15 | 0.841 | Non-synonymous coding | 18e | 19 | – | 15 | – |
| 15 | 48787411 | A/T | CYS/stop | 862/2872 | FBN1 | 1.66 | 1.497 | Stop-gained | 3 | 3 | 4 | 3e | – |
| 15 | 48807601 | A/T | LEU/HIS | 484/2872 | FBN1 | 2.9 | 1.508 | Non-synonymous coding | – | 3 | 3e | – | 3 |
| 15 | 48888508 | G/C | TYR/stop | 170/2872 | FBN1 | 1.11 | 1.114 | Stop gained | – | 3 | 4e | – | – |
| 15 | 48888520 | A/T | CYS/stop | 166/2872 | FBN1 | −0.67 | 0.961 | Stop-gained | 4 | 4 | 7e | – | 8 |
| 15 | 67073635 | A/G | ASP/GLY | 157/236 | SMAD6 | 1.87 | 1.144 | Non-synonymous coding | 5e | – | 4 | 3 | 6 |
| 16 | 15841741 | C/G | CYS/SER | 754/1946 | MYH11 | 2.82 | 2.118 | Non-synonymous coding | 6 | 8 | 11 | 13e | 11 |
| 16 | 15932031 | G/A | GLN/stop | 27/1946 | MYH11 | 2.82 | 2.017 | Stop-gained | – | – | – | 3e | – |
| 16 | 16282720 | A/G | PHE/LEU | 583/1504 | ABCC6 | 2.82 | 1.713 | Non-synonymous coding | 5e | 6 | – | 7 | 6 |
| 16 | 55530885 | T/C | LEU/PRO | 457/611 | MMP2 | 2.9 | 1.361 | Non-synonymous coding | 4 | 4 | 5 | 5e | 6 |
aEnsembl59 coordinate
bFirst number indicates the position of mutation, second total number of amino acids in a transcript
cEnsembl Genomic Evolutionary Rate Profiling (GERP) score
dEnsembl predicted variation consequences
ePool used for cappilary sequencing confirmation