Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_006349.3
p.R134W
c.400C>T
NM_006349.3
p.M1fs
c.1_2fs
NM_006349.3
p.E3fs
c.7_8fs
NM_006349.3
p.K4E
c.10A>G
NM_006349.3
p.K5E
c.13A>G
NM_006349.3
p.S7*
c.20C>A
NM_006349.3
p.V8Splc
c.22+1G>A
NM_006349.3
p.V8Splc
c.22+1G>T
NM_006349.3
p.Q25P
c.74A>C
NM_006349.3
p.Q41Q
c.123G>A
NM_006349.3
p.L51L
c.153C>T
NM_006349.3
p.G52_R54delFs
c.156_160del5