Table 3. Single nucleotide polymorphism (SNP) haplotypes of affected individuals in PKRP301, PKRP309, PKRP356, and PKRP367 harboring the c.1466A>G (p.K489R) mutation in TULP1.
| Family | Individual |
c.1466A>G |
rs12665445 |
rs7770128 |
rs12215920 |
rs34126023 |
rs7764472 |
|---|---|---|---|---|---|---|---|
| Chr6: 35500039 | Chr6: 35500262 | Chr6: 35505901 | Chr6: 35506296 | Chr6: 35509796 | Chr6: 35511797 | ||
|
PKRP301 |
14 |
G |
C |
T |
G |
T/C |
C |
|
PKRP309 |
15 |
G |
C |
T |
G |
T/C |
C |
|
PKRP356 |
10 |
G |
C |
T |
G |
T/C |
C |
| PKRP367 | 12 | G | C | T | G | T/C | C |