Table 1.
No. of |
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Mutation(Nucleotide Change) | Location | Patients | Families | Ethnicity |
H22Y (151 C→T) | Exon 2 | 6 | 2 | Scottish/German, mixed northern European |
C30S (176 G→C) | Exon 2 | 3 | 1 | Irish |
C33G (184 T→G) | Exon 2 | 2 | 1 | Puerto Rican |
P46L (254 C→T) | Exon 2 | 1 | 1 | African American/northern European |
S86P (343 T→C) | Exon 4 | 4 | 1 | Scottish/Irish |
R92Q362 G→A | Exon 4 | 9 | 9 | Mexican (1), Italian (2), Irish (1), English (1), Portuguese (1), Ashkenazi (1), mixed northern European (2) |
Splice (c.193−14 G→A) | Intron 3 | 5 | 2 | Scottish/Arab |