Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_001075.6
p.D67Y
c.199G>T
NM_001075.6
p.P154L
c.461C>T
NM_001075.6
p.E157K
c.469G>A
NM_001075.6
p.N481D
c.1441A>G
NM_001075.6
p.K4Q
c.10A>C
NM_001075.6
p.T7insFs
c.20dupC
NM_001075.6
p.Q12R
c.35A>G
NM_001075.6
p.L34F
c.100C>T
NM_001075.6
p.L34H
c.101T>A
NM_001075.6
p.M38V
c.112A>G
NM_001075.6
p.L55M
c.163C>A
NM_001075.6
p.A56T
c.166G>A