Table 3 Mutations in CAVIN1 gene [5,6,7,8,9,10,11,12,13,14]
Patients | Mutations |
|---|---|
Patient 1 | c.631G > T:p.E211X(homozygous) |
Patient 2 | c.362dupT(homozygous) |
Patient 3 | c.696-697insC(homozygous) |
Patient 4 | c.696-697insC(homozygous) |
Patient 5 | c.696-697insC(homozygous) |
Patient 6 | c.696-697insC(homozygous) |
Patient 7 | c.696-697insC/c.525delG |
Patient 8 | c.135delG |
Patient 9 | c.135delG |
Patient 10 | c.481-482insGTGA |
Patient 11 | c.518-521delAAGA |
Patient 12 | c.518-521delAAGA |
Patient 13 | c.259C > T |
Patient 14 | c.512CNA /c.696_697insC |
Patient 15 | c.696_697insC |
Patient 16 | c.160delG (homozygous) |
Patient 17 | c.160delG (homozygous) |
Patient 18 | c.160delG (homozygous) |
Patient 19 | c.160delG (homozygous) |
Patient 20 | c.160delG (homozygous) |
Patient 21 | c.160delG (homozygous) с.45G > A (homozygous) |
Patient 22 | c.160delG (homozygous) |
Patient 23 | c.160delG (homozygous) |
Patient 24 | c.160delG (homozygous) |
Patient 25 | c.160delG (homozygous) |
Patient 26 | c.550G > T |
Patient 27 | c.550G > T |
Patient 28 | c.518521delAAGA and c.471 + 1G.T |