Table 2.
WGS of nine individuals. Haplotypes and clinical diagnosis.
| ID | rs1878 | rs1454 | S192Y | rs5291 | rs1475 | R402Q | TYR mutation | Diagnosis |
|---|---|---|---|---|---|---|---|---|
| 22 | G/G | C/C | A/A (Y/Y) | G/G | G/G | A/A (Q/Q) | No mutation | AROA |
| 96 | G/G | C/T | A/A (Y/Y) | G/C | G/G | A/A (Q/Q) | No mutation | AROA |
| 308 | G/G | C/T | A/A (Y/Y) | G/C | G/G | A/A (Q/Q) | No mutation | AROA |
| 288 | C/G | C/C | C/A (S/Y) | G/G | A/G | A/A (Q/Q) | c.1075C > T | OCA |
| 44 | C/G | C/T | C/A (S/Y) | G/C | A/G | A/A (Q/Q) | c.228C > G | OCA |
| 284 | C/G | C/C | C/A (S/Y) | G/G | A/G | G/A (R/Q) | c.1467dupT | OCA |
| 112 | C/G | C/T | C/A (S/Y) | G/C | A/G | G/A (R/Q) | c.1467dupT | OCA |
| 236 | C/G | C/T | A/A (Y/Y) | G/C | A/G | G/A (R/Q) | c.915C > A | AROA |
| 271 | C/C | C/C | C/A (S/Y) | G/G | A/A | G/G (R/R) | c.915C > A | AROA |
Y: tyrosine, S: serine, Q: glutamine, R: arginine, OCA: oculocutaneous albinism, AROA: autosomal recessive ocular albinism.rs1878: rs187887338, rs1454: rs145409367, S192Y: rs1042602, rs5291: rs529135220, rs1475: rs147546939, R402Q: rs1126809.