Table 1 of Tang, Mol Vis 2016; 22:917-932.
Family | Location | Allele status | cDNA Change | Protein Change | Type | Probands With FEVR | Control | SIFT | PolyPhen2 | Align | Source |
---|---|---|---|---|---|---|---|---|---|---|---|
ID | (n=100) | Subjects | GVGD | ||||||||
(n=150) | |||||||||||
33 | Exon1 | Hetero | 107G>A | G36D | Missense | 1/100 | 0/150 | 0.03,D | Benign | Class C65 | [17] |
26 | Exon1 | Hetero | 133T>C | C45R | Missense | 1/100 | 0/150 | 0,D | Probably damaging | Class C65 | Novel |
43 | Exon1 | Hetero | 133T>A | C45S | Missense | 1/100 | 0/150 | 0,D | Possibly damaging | Class C65 | Novel |
29 | Exon1 | Hetero | 134G>A | C45Y | Missense | 1/100 | 0/150 | 0,D | Probably damaging | Class C65 | [15] |
12 | Exon1 | Hetero | 158G>C | C53S | Missense | 1/100 | 0/150 | 0,D | Probably damaging | Class C65 | Novel |
42 | Exon1 | Hetero | 223G>A | A75T | Missense | 1/100 | 0/150 | 0,D | Probably damaging | Class C55 | - |
30 | Exon1 | Hetero | 268T>C | C90R | Missense | 1/100 | 0/150 | 0,D | Probably damaging | Class C65 | Novel |
36,44 | Exon2 | Hetero | 313A>G | M105V | Missense | 2/100 | 0/150 | 0.02,D | Possibly damaging | Class C15 | [14,18-21] |
27 | Exon2 | Hetero | 957G>A | W319X | Nonsense | 1/100 | 0/150 | NA | NA | NA | [21,22] |
3,7 | Exon2 | Hetero | 975_978delCACT | T326fsX356 | Deletion | 2/100 | 0/150 | NA | NA | NA | Novel |
4 | Exon2 | Hetero | 1034_1054delCTTATTTCCACATTGCAGCCT | S345_A351del | Deletion | 1/100 | 0/150 | NA | NA | NA | Novel |
14,31,37,38,39,41 | Exon2 | Hetero | 1282_1285delGACA | D428fsX429 | Deletion | 6/100 | 0/150 | NA | NA | NA | [14,19,20] |
25 | Exon2 | Hetero | 1475delG | G492fsX512 | Deletion | 1/100 | 0/150 | NA | NA | NA | Novel |
28 | Exon2 | Hetero | 1498delA | T500fsX512 | Deletion | 1/100 | 0/150 | NA | NA | NA | [17] |