Table 3.
List of final candidate variants.
| Genomic coordinates | Genotype∗ | AA change | Gene | MAF | Functional prediction | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| III-2 | III-3 | II2 | I2 | 1kG (ASN) | Thai | SIFT | Polyphen 2 HumVar | Mutation taster | |||
| Chr2: 179549988 | A/G | G/G | G/G | G/G | p.Pro9577Leu | TTN | 0.01 | 0 | Damaging | Probably damaging | Disease causing |
| Chr3: 38607905 | C/T | C/T | C/C | C/C | p.Val1278Ile | SCN5A | 0 | 0 | Damaging | Probably damaging | Disease causing |
| Chr3: 38674698 | C/T | C/C | C/T | C/C | p.Arg34His | SCN5A | 0 | 0 | Damaging | Possibly damaging | Disease causing |
| Chr3: 132438619 | A/G | G/G | G/G | G/G | p.Ala150Val | NPHP3 | 0.02 | 0.0067 | Damaging | Probably damaging | Disease causing |
| Chr9: 34506694 | A/T | A/A | A/A | A/A | p.Tyr378Phe | DNAI1 | 0 | 0 | Damaging | Benign | Disease causing |
| Chr11: 1271591 | A/G | A/A | A/A | A/A | p.Lys4494Thr | MUC5B | 0 | 0.0067 | Damaging | Benign | Polymorphism |
∗Genotypes in this table are FWD genotype while genotypes in HGVS are REV genotype.