Table 2 of
Iwanami, Mol Vis 2019; 25:766-779. Table 2 of
Iwanami, Mol Vis 2019; 25:766-779.
Table 2. Putative pathogenic missense variants.
| ID | Variant | No. of subjects | MAF | MAF (Database) | Reference | ACMG evidence | ACMG class | ||
|---|---|---|---|---|---|---|---|---|---|
| RP | KRP | CT | RP+KRP | ||||||
| Ex4-4 | c.632G>A | 2 | 1 | 0 | 0.0032 | - | 11 | PS4, PP3 | VUS |
| p.(Cys211Tyr) | |||||||||
| Ex16-2 | c.2528G>A | 34 | 24 | 5 | 0.0693 | 0.0014 (1000genome) | 8, 9 | PS4, PM3, | LP |
| (JV3) | p.(Gly843Glu) | 0.00002 (gnomAD) | PP1, PP3 | ||||||
| 0.022 (HGVD) | |||||||||
| 0.017 (iJGVD) | |||||||||
| Ex23-1 | c.3454G>A | 1 | 0 | 0 | 0.0015 | 0.00011 (gnomAD) | - | PM2, PP3 | VUS |
| p.(Gly1152Arg) | |||||||||
| Ex32-2 | c.6557G>A | 6 | 3 | 0 | 0.0117 | 0.00004 (gnomAD) | 3, 5, | PS4, PM3, | LP |
| (JV4) | p.(Gly2186Glu) | 9-11, | PP1, PP3 | ||||||
| 31, 32 | |||||||||
| Ex32-3 | c.6563T>C | 2 | 4 | 0 | 0.0064 | - | 11 | PS4, PM3, | LP |
| (JV5) | p.(Ile2188Thr) | PP1 | |||||||
| Ex35-1 | c.6844G>A | 1 | 0 | 0 | 0.0015 | 0.0002 (1000genome) | - | PM2, PP3 | VUS |
| p.(Glu2282Lys) | 0.000006 (gnomAD) | ||||||||
| Ex39-5 | c.7713T>G | 1 | 0 | 0 | 0.0011 | - | - | PM2, PP3 | VUS |
| p.(Asn2571Lys) | |||||||||
| Ex40-1 | c.7793G>A | 1 | 1 | 0 | 0.0021 | - | 9, 10 | PM2, PP3 | VUS |
| p.(Gly2598Asp) | |||||||||
| Ex44-3 | c.8696C>G | 0 | 1 | 0 | 0.0011 | - | - | PM2, BP4 | VUS |
| p.(Ala2899Gly) | |||||||||
| Ex44-4 | c.8759G>C | 1 | 0 | 0 | 0.0011 | - | - | PM2, PP3 | VUS |
| p.(Cys2920Ser) | |||||||||
| Ex44-6 | c.9082G>T | 1 | 0 | 0 | 0.0011 | 0.00001 (gnomAD) | 12, 28 | PM2, PM3, | LP |
| p.(Asp3028Tyr) | PP1, PP3 | ||||||||
| Ex44-7 | c.9094A>G | 1 | 0 | 0 | 0.0011 | - | - | PM2, BP4 | VUS |
| p.(Ile3032Val) | |||||||||
| Ex44-8 | c.9164A>G | 0 | 1 | 0 | 0.0011 | 0.00005 (ExAC) | - | PM2, PP3 | VUS |
| p.(Tyr3055Cys) | 0.00001 (gnomAD) | ||||||||