Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_001647.4
p.V76M
c.226G>A
NM_001647.4
p.F15S
c.44T>C
NM_001647.4
p.Q21_A22ins1
c.63_64insACC
NM_001647.4
p.F112Splc
c.334+3A>G
NM_001647.4
p.S115L
c.344C>T
NM_001647.4
p.L4M
c.10C>A
NM_001647.4
p.L5L
c.15G>A
NM_001647.4
p.F15F
c.45C>T
NM_001647.4
p.Q21_A22insFs
c.63_64ins4
NM_001647.4
p.H24D
c.70C>G
NM_001647.4
p.K27M
c.80A>T
NM_001647.4
p.P31S
c.91C>T