Table 2 of Wang, Mol Vis 2019; 25:912-920.
Family ID | Mutation | Exon | Bioinformatics Analysis | Reported /Novel | MAF | |||||
---|---|---|---|---|---|---|---|---|---|---|
Nucleotide | Amino acid | Type | Status | SIFT | PolyPhen-2 | PROVEN | ||||
OA01 | c.968A>G | p.Y323C | missense | Het | E10 | DA (0.000) | PD (1.000) | DE (−8.03) | Novel | - |
OA02 | c.193C>G | p.L65V | missense | Het | E2 | DA (0.016) | B (0.278) | N (−0.63) | Novel | - |
OA03 | c.1499G>A | p.R500H | missense | Het | E16 | DA (0.001) | PD (1.000) | DE (−4.70) | CM030379 | - |
OA04 | c.1800C>A | p.S600R | missense | Het | E19 | DA (0.001) | PD (1.000) | DE (−4.64) | CM061154 | - |
OA05 | c.1071dupT | p.T358* | nonsense | Het | E11 | - | - | - | Novel | - |
OA06 | c.1034G>A | p.R345Q | missense | Het | E10 | DA (0.041) | PD (0.978) | DE (−3.50) | CM002636 | - |
OA07 | c.987_988del | p.S331* | nonsense | Het | E10 | - | - | Novel | - | |
OA08 | c.2012+2T>G | - | splice site | Het | E22–23 | - | - | Novel | - | |
OA09 | c.2873_2876del | p.V958Gfs*2 | frameshift | Het | E29 | - | - | [26] | 4/121408 | |
OA10 | c.1499G>A | p.R500H | missense | Het | E16 | DA (0.001) | PD (1.000) | DE (−4.70) | CM030379 | - |
OA11 | c.112C>T | p.R38* | nonsense | Het | E2 | - | - | - | CM024785 | - |
OA12 | c.1036–1G>C | - | splice site | Het | E10–11 | - | - | - | Novel | - |
OA13 | c.2126A>G | p.D709G | missense | Het | E22 | DA (0.001) | PD (1.000) | DE (−6.72) | Novel | - |
OA14 | c.804_805del | p.K269Nfs*1 | frameshift | Het | E8 | - | - | - | [27] | - |
OA15 | c.1036_1038del | p.V346del | deletion | Het | E11 | - | - | - | Novel | - |