Table 2.
Prioritized Genes with FC-Specific Deleterious Variants
| Gene (MIM) | Position |
Variant (GenBank) |
Family | PolyPhen-2 Score | GERP++ Score | |
|---|---|---|---|---|---|---|
| cDNA | Amino Acid | |||||
| ABCA10 (612508) | chr17: 67,215,903 | c.313A>G (NM_080282) | p.Asn105Asp (NP_525021) | 60 | 0.995 | 1.83 |
| chr17: 67,221,498 | c.2T>C (NM_080282) | p.Met1Thr (NP_525021) | 94 | 0.998 | 3.6 | |
| AIM1 (601797) | chr6: 107,008,779 | c.4733G>T (NM_001624) | p.Gly1578Val (NP_001615) | 89 | 1 | 3.4 |
| chr6: 106,968,391 | c.2084C>A (NM_001624) | p.Ser695Tyr (NP_001615) | 94 | 0.966 | 5.62 | |
| CDAN1 (607465) | chr15: 43,028,521 | c.548C>T (NM_138477) | p.Ser183Leu (NP_612486) | 89 | 0.127 | 3.91 |
| chr15: 43,023,250 | c.1880C>T (NM_138477) | p.Ala627Val (NP_612486) | 28 | 0.007 | 5.49 | |
| GPATCH8 (614396) | chr17: 42,477,055 | c.2390G>A (NM_001002909) | p.Arg797Gln (NP_001002909) | 28 | 0.658 | 2.67 |
| chr17: 42,475,271 | c.4174G>A (NM_001002909) | p.Gly1392Ser (NP_001002909) | 10 | 0.98 | 4.57 | |
| HELZ2 (611265) | chr20: 62,196,325 | c.2143C>T (NM_033405) | p.Arg715Trp (NP_208384) | 28 | 0.858 | 4.11 |
| chr20: 62,195,122 | c.3346C>T (NM_033405) | p.Arg1116Trp (NP_208384) | 60 | 1 | −0.842 | |
| RNF213 (613768) | chr17: 78,272,125 | c.2017C>T (NM_001256071) | p.Arg673Trp (NP_001243000) | 28 | 0.997 | 0.06 |
| chr17: 78,319,115 | c.6980A>G (NM_001256071) | p.Asn2327Ser (NP_001243000) | 60 | 0.006 | 2.19 | |
| chr17: 78,293,222 | c.3134C>T (NM_020954.3) | p.Ser1045Leu (NP_066005.2) | 10 | 0.496 | 2.628 | |
| chr17: 78,353,451 | c.13577T>C (NM_001256071) | p.Ile4526Thr (NP_001243000) | 94 | 0.291 | 2.81 | |
| chr17: 78,336,958 | c.11413del (NM_001256071) | p.Glu3806Argfs∗27 (NP_001243000) | 60 | – | – | |
| OR11H1 | chr22: 16,449,405 | c.400G>A (NM_001005239) | p.Ala134Thr (NP_001005239) | 89 | 0.852 | 0.664 |
| chr22: 16,449,399 | c.406G>A (NM_001005239) | p.Asp136Asn (NP_001005239) | 10 | 0.988 | 1.84 | |
| PLEC (601282) | chr8: 144,998,555 | c.5542C>T (NM_201384) | p.Leu1848Phe (NP_958786) | 60 | 0.726 | 4.06 |
| chr8: 144,996,050 | c.7939G>T (NM_201384) | p.Asp2647Tyr (NP_958786) | 89 | 0.992 | 0.966 | |
| RTTN (610436) | chr18: 67,806,837 | c.2786G>A (NM_173630) | p.Arg929Lys (NP_775901) | 94 | 0.985 | 4.96 |
| chr18: 67,742,698 | c.4454A>G (NM_173630) | p.His1485Arg (NP_775901) | 89 | 0.043 | 2.92 | |
| SF3A2 (600796) | chr19: 2,248,232 | c.1082C>G (NM_007165) | p.Ala361Gly (NP_009096) | 28 | 0.474 | 2.57 |
| chr19: 2,245,459 | c.260C>T (NM_007165) | p.Ala87Val (NP_009096) | 94 | 0.024 | 4.54 | |
| ZNF335 (610827) | chr20: 44,577,719 | c.3902C>T (NM_022095) | p.Ala1301Val (NP_071378) | 60 | 0.201 | 4.91 |
| chr20: 44,596,594 | c.593A>G (NM_022095) | p.Asp198Gly (NP_071378) | 10 | 0.977 | 3.92 | |