Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_001277.3
p.R141W
c.421C>T
NM_001277.3
p.A39D
c.116C>A
NM_001277.3
p.P194S
c.580C>T
NM_001277.3
p.P297S
c.889C>T
NM_001277.3
p.D439E
c.1317C>G
NM_001277.3
p.D439E
c.1317C>A
NM_001277.3
p.M1T
c.2T>C
NM_001277.3
p.M1_K2insFs
c.3_4insC
NM_001277.3
p.M1I
c.3G>A
NM_001277.3
p.F5insFs
c.14dupT
NM_001277.3
p.C6fs
c.16_17fs
NM_001277.3
p.T7S
c.19A>T