TABLE 2.
Genetic features of the individuals with KCNH1 variants
| Cases | Position | cDNA change (NM_172362) | Protein change | MAF | MAF‐EAS | Mutation taster | SIFT | CADD | Polyphen2_HDIV | GERP++ | PhyloP | Grantham scores |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1, 2 | Chr1:211090663 | 338T>C | p.Ile113Thr | – | – | DC (1.00) | D (0.09) | D (26.30) | PD (0.99) | C (5.22) | C (8.93) | 89 |
| 3 | Chr1:210920033 | 1069C>T | p.Arg357Trp | – | – | DC (1.00) | D (0.00) | D (34.00) | PD (1.00) | C (5.48) | C (4.26) | 101 |
Abbreviations: B, benign; C, conserved; CADD, combined annotation dependent depletion; D, damaging; DC, disease‐causing; Chr, chromosome; MAF, minor allele frequency from Genome Aggregation Database; MAF‐EAS, minor allele frequency from East Asia population in Genome Aggregation Database; NA: not applicable; PD, probably damaging.