Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001416.4
p.S89S
c.267G>A
NM_001416.4
p.H132H
c.396C>T
NM_001416.4
p.F163L
c.487T>C
NM_001416.4
p.F163L
c.489T>A
NM_001416.4
p.F163L
c.489T>G
NM_001416.4
p.R168W
c.502C>T
NM_001416.4
p.E186K
c.556G>A
NM_001416.4
p.N280S
c.839A>G
NM_001416.4
p.T298I
c.893C>T
NM_001416.4
p.S2delFs
c.6delT
NM_001416.4
p.D6V
c.17A>T
NM_001416.4
p.S7F
c.20C>T