Table 5.
Shortlist of seven candidate variants identified as plausible disease-causing variants
| Gene | SNV | dbSNP | 1000 genomes project frequency | ExAC genome browser frequency | ESP6500 frequency | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALL | AFR | AMR | EAS | EUR | SAS | ALL | AFR | AMR | EAS | FIN | NFE | OTH | SAS | ALL | AA | EA | |||
| KCTD1 | R336C | None | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 5.15e-05 | 0.00 | 0.00 | 0.00 | 0.00 | 0.0001 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| COL6A5 | P349L | rs142949552 | 0.002 | 0.00 | 0.00 | 0.00 | 0.001 | 0.0092 | 0.0131 | 0.0005 | 0.0049 | 0.00 | 0.00 | 0.0039 | 0.0158 | 0.0279 | 0.00 | 0.00 | 0.00 |
| SH3TC1 | P778L | rs145110444 | 0.002 | 0.0053 | 0.00 | 0.001 | 0.001 | 0.001 | 0.0009 | 0.0056 | 8.78e-05 | 0.00 | 0.0003 | 0.0005 | 0.0012 | 0.0012 | 0.0022 | 0.0007 | 0.0003 |
| EVC2 | L502R | rs145909403 | 0.0006 | 0.0023 | 0.00 | 0.00 | 0.00 | 0.00 | 0.0001 | 0.0012 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.0002 | 0.0002 | 0.00 |
| TTC37 | R1503C | rs200067423 | 0.0002 | 0.0008 | 0.00 | 0.00 | 0.00 | 0.00 | 4.16e-05 | 0.0004 | 8.74e-05 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.0001 | 0.0002 | 0.00 |
| COL6A6 | E368G | None | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| MFN2 | H20Y | rs201715603 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.0001 | 0.00 | 8.64e-05 | 0.00 | 0.00 | 0.0001 | 0.0011 | 0,0001 | 0.0001 | 0.00 | 0.0001 |
KCTD1 Potassium Channel Tetramerization Domain Containing 1, COL6A5 Collagen Type VI Alpha 5, SH3TC1 SH3 Domain And Tetratricopeptide Repeats 1, EVC2 EvC Ciliary Complex Subunit 2, TTC37 Tetratricopeptide Repeat Domain 37, COL6A6 Collagen Type VI Alpha 6, MFN2 Mitofusin 2, SNV single nucleotide variant, AFR African, AMR Ad Mixed American, EAS East Asian, EUR European, SAS South Asian, FIN Finnish, NFE Non-Finnish European, OTH Other, AA African American, EA European American