Table 2.
Summary of novel non-synonymous coding homozygous variants in patient
| CHROM | POS | REF | ALT | Gene | Position | Variant type | Amino acid change | GERP | PhyloP | SIFT | Polyphen2 | OMIM disorders |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9 |
135176191 |
C |
T |
SETX |
Splice |
Splice |
- |
4.88 |
- |
- |
- |
Ataxia-ocular apraxia-2, 606002 (3); Amyotrophic lateral sclerosis4, juvenile, 602433 (3) |
| X |
128695181 |
G |
A |
OCRL |
Exon_CDS |
Missense |
E284K |
5.44 |
1.00 |
1.00 |
0.99 |
Lowe syndrome, 309000 (3); Dent disease 2, 300555 (3) |
| 4 |
86863251 |
C |
T |
ARHGAP24 |
Exon_CDS |
Missense |
R47C |
5.11 |
1.00 |
0.90 |
0.94 |
- |
| X |
3021820 |
G |
A |
ARSF |
Exon_CDS |
Missense |
G374S |
3.43 |
0.99 |
0.86 |
0.18 |
- |
| X |
153524232 |
G |
A |
TKTL1 |
Exon_CDS |
Missense |
R7K |
0.12 |
0.22 |
0.80 |
0.19 |
- |
| 4 |
88536013 |
TAGCAGTGACAGCAGCAAC |
T |
DSPP |
Exon_CDS |
Deletion |
- |
0.409 |
|
- |
- |
Dentinogenesis imperfecta, Shields type II/III, 125490/125500 (3); Deafness,autosomal dominant 36, with dentinogenesis, 605594 (3); |
| 10 |
33136818 |
TAA |
T |
C10orf68 |
Exon_CDS |
Deletion |
- |
−0.964 |
- |
- |
- |
- |
| 15 |
42302337 |
CA |
C |
PLA2G4E |
Exon_CDS |
Deletion |
- |
1.58 |
- |
- |
- |
- |
| 14 | 98444454 | TC | T | C14orf64 | 5’UTR | Deletion | - | 3.87 | - | - | - | - |