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 |
