Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_001004310.3
p.S427G
c.1279A>G
NM_001004310.3
p.R123*
c.367C>T
NM_001004310.3
p.Q269*
c.805C>T
NM_001004310.3
p.G160D
c.479G>A
NM_001004310.3
p.L2L
c.4C>T
NM_001004310.3
p.S84T
c.250T>A
NM_001004310.3
p.E107Splc
c.320-1G>A
NM_001004310.3
p.P111S
c.331C>T
NM_001004310.3
p.S240F
c.719C>T
NM_001004310.3
p.V359M
c.1075G>A
NM_001004310.3
p.S381N
c.1142G>A
NM_001004310.3
p.Q423*
c.1267C>T