Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_001145728.2
p.Q30Splc
c.89+1G>A
NM_001145728.2
p.D3N
c.7G>A
NM_001145728.2
p.S11S
c.33G>C
NM_001145728.2
p.Q15P
c.44A>C
NM_001145728.2
p.H19Y
c.55C>T
NM_001145728.2
p.S39Y
c.116C>A
NM_001145728.2
p.S44P
c.130T>C
NM_001145728.2
p.S50L
c.149C>T
NM_001145728.2
p.P66L
c.197C>T
NM_001145728.2
p.G68C
c.202G>T
NM_001145728.2
p.L71P
c.212T>C
NM_001145728.2
p.T88I
c.263C>T