Table 2 Predicted causal variants, in eighteen probands with phenotypes matching hypomorphic albinism.
Proband | Variant 1 | Variant 2 | Variant 3 |
|---|---|---|---|
1 | — | — | — |
2 | — | — | — |
3 | TYR c.529 G > T p.V177F (SIFT = . PolyPhen = D GERP = 5.16) | OCA2 c.822 G > C p.W274C (SIFT = 0 PolyPhen = D GERP = 4.66) | OCA2 c.1948C > G p.Loo650V (SIFT = 0.03 PolyPhen = D GERP = 5.75) |
4 | TYR c.1467dup p.T489fs | — | — |
5 | TYR c.505_507del p.D169del | — | — |
6 | TYR c.732_733del p.C244Ter | — | — |
7 | TYR c.1204 C > T p.R402Ter | — | — |
8 | OCA2 c.1393 A > G p.N465D (SIFT = 0.01 PolyPhen = D GERP = 5.33) | TYRP1 c.1037 C > G p.P346R (SIFT = 0 PolyPhen = D GERP = 5.73) | — |
9 | TYR c.1217 C > T p.P406L (SIFT = . PolyPhen = D GERP = 4.68) | PAX6 c.1264 C > A p.Q422K (SIFT = 0 PolyPhen = D GERP = 6.16) | — |
10 | GPR143 c.485del p.W162fs | — | — |
11 | — | — | — |
12 | TYR c.1217 C > T p.P406L (SIFT = . PolyPhen = D GERP = 4.68) | — | — |
13 | OCA2 c.1606C > T p.R536C (SIFT = 0.01 PolyPhen = D GERP = 5.8) | — | — |
14 | — | — | — |
15 | — | — | — |
16 | OCA2 c.1255 G > A p.V419I (SIFT = 0.02 PolyPhen = D GERP = 5.2) | OCA2 c.1025 A > G p.Y342C (SIFT = 0 PolyPhen = D GERP = 5.55) | — |
17 | OCA2 c.1255 G > A p.V419I (SIFT = 0.02 PolyPhen = D GERP = 5.2) | — | — |
18 | TYR c.1264 C > T p.R422W (SIFT = . PolyPhen = D GERP = 2.69) | — | — |
