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Alterations Occurring in North American Control Chromosomes or Unaffected Family Members
| Alteration | Frequency in Control Chromosomesa | |
| 3775G→A | E1259K | 0/190b |
| 1216G→A | A406T | 1/178 |
| 4075-4077Δ | E1359del | 1/150 |
| 1483G→C | E495Q | 2/184 |
| 3394A→G | R1132G | 6/182 |
| 3248C→G | P1083R | 24/182 |
| 2763A→G | I921M | 37/190 |
| 2645C→T | A882V | 45/190 |
| 306C→T | T102T | ND |
| 1491C→G | P497P | ND |
| 2655T→C | P885P | ND |
ND = not determined.
Observed in an unaffected sibling.
