- c.1624G>A (p.E542K)
- c.1625A>G (p.E542G)
- c.1625A>T (p.E542V)
- c.1633G>A (p.E545K)
- c.1634A>G (p.E545G)
- c.1635G>T (p.E545D)
- c.1636C>G (p.Q546E)
- c.1636C>A (p.Q546K)
- c.1637A>C (p.Q546P)
- c.1637A>G (p.Q546R)
- c.3139C>T (p.H1047Y)
- c.3140A>T (p.H1047L)
- c.3140A>G (p.H1047R)