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 |