Table II.
Mutations reported in the ClinVar database for a proband in a family with dilated cardiomyopathy (MAF≤0.01).
| Gene | Transcript accession no. | Location | Function | Exon | Protein | Coding | SIFT | PolyPhen-2 | ClinVar | dbSNP | MAFa |
|---|---|---|---|---|---|---|---|---|---|---|---|
| KCNQ4 | NM_004700.3 | Exonic | Missense | 4 | p.Phe182Leu | c.546C>G | 1 | 0.046 | Pathogenic | rs80358273 | 0.00060 (G) |
| LMNA | NM_170707.3 | Exonic | Missense | 1 | p.Glu82Lys | c.244G>A | 0.0 | 1.0 | Pathogenic | rs59270054 | |
| EYA1 | NM_172058.3 | Exonic | Missense | 13 | p.Gly426Ser | c.1276G>A | 0.0 | 0.891 | Pathogenic | rs121909199 | |
| HBA2 | NM_000517.4 | utr_3 | 3 | Untested | rs2541640 | 0.006 | |||||
| RYR1 | NM_000540.2 | Intronic | Untested | rs4476278 | 0.01 | ||||||
| ADA | NM_000022.2 | Exonic | Synonymous | 2 | p.(=) | c.36G>A | Untested | rs394105 | 0.01 |
a
The mutated sites with MAF >1% from dbSNP 1000 Genomes (population frequency information from the 1000 genomes project) were removed. ADA, adenosine deaminase; HBA2, hemoglobin A2; LMNA, lamins A/C; KCNQ4, potassium voltage-gated channel subfamily KQT; EYA1, EYA transcriptional coactivator and phosphatase 1; MAF, minor allele frequencies; RYR1, ryanodine receptor 1; utr, untranslated region.