Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_212557.4
p.R15W
c.43C>T
NM_212557.4
p.P33delins
c.98delinsCTCA
NM_212557.4
p.G78S
c.232G>A
NM_212557.4
p.P18_Q19Splc
c.55-2A>C
NM_212557.4
p.G88E
c.263G>A
NM_212557.4
p.M1insFs
c.1_2ins5
NM_212557.4
p.M1ins1
c.1_2insATC
NM_212557.4
p.M1T
c.2T>C
NM_212557.4
p.M1I
c.3G>T
NM_212557.4
p.S3Fs
c.7delinsTGGTCFs
NM_212557.4
p.F8insFs
c.23dupT
NM_212557.4
p.G12*
c.34G>T