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 | - | - | - | - |