TABLE 1.
Rare functional variants (n = 10) identified in CACNA1I in 187 cases clinically diagnosed with HM.
| Sample ID |
Locus* | Amino acid change | Coding | SIFT | Polyphen2 | LRT | Mutation taster | FATHMM | CADD | gnomAD exome_ NFE (MAF) | UKBiobank (MAF) | GRC HM- cases (MAF) | dbSNP |
| DGR211 | chr22:39994250 | p.R111G | c.331C > G | D | P | N | D | D | 34 | 9.84E-06 | 2.23E-05 | 0.0026738 | rs751729397 |
| DGR1, DGR239 | chr22:39996558 | p.M128L | c.382A > C | T | B | D | N | D | 9.094 | 0.0006 | 0.00071 | 0.00534759 | rs58395851 |
| DGR32 | chr22:40037036 | p.D302G | c.905A > G | T | B | U | N | D | 23.6 | 0.0013 | 0.001 | 0.0026738 | rs59635914 |
| DGR246 | chr22:40037051 | p.R307H | c.920G > A | D | B | N | N | D | 25.5 | 0.0073 | 0.0071 | 0.0026738 | rs59986512 |
| DGR108, DGR251 | chr22:40045685 | p.A548T | c.1642G > A | T | B | N | N | D | 6.547 | 0.0019 | 0.00087 | 0.00534759 | rs56859827 |
| DGR206 | chr22:40056424 | p.G859C | c.2575G > T | T | P | U | N | D | 24.6 | 9.04E-06 | 0 | 0.0026738 | rs747381590 |
| DGR72 | chr22:40057233 | p.P905L | c.2714C > T | T | B | N | D | D | 24.2 | 1.81E-05 | 8.15E-05 | 0.0026738 | rs376992678 |
| DGR146 | chr22:40057290 | p.R924K | c.2771G > A | T | B | D | D | D | 17.06 | 2.92E-05 | 2.33E-05 | 0.0026738 | rs199552874 |
| DGR94, DGR114, DGR129 | chr22:40058145 | p.P991L | c.2972C > T | T | B | U | N | D | 8.374 | 0.007 | 0.0052 | 0.00802139 | rs57299573 |
| DGR96, DGR161, DGR167, DGR226 | chr22:40059828 | p.Q1158H | c.3474G > C | T | D | D | D | D | 23.7 | 0.0041 | 0.0046 | 0.01069519 | rs58500586 |
* GRCh37 (hg19) genome assembly.
D, damaging or deleterious; P, possibly damaging; T, tolerated; B, benign; U, unknown; MAF, minor allele frequency; GRC, Genomics Research Centre. Transcript, CACNA1I (NM_001003406.2).