Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
NM_001080442.3
p.D283A
c.848A>C
NM_001080442.3
p.E233K
c.697G>A
NM_001080442.3
p.I32S
c.95T>G
NM_001080442.3
p.V236D
c.707T>A
NM_001080442.3
p.M34R
c.101T>G
NM_001080442.3
p.Q200*
c.598C>T
NM_001080442.3
p.G332insFs
c.995dupG
NM_001080442.3
p.G412R
c.1234G>C
NM_001080442.3
p.G412R
c.1234G>A
NM_001080442.3
p.E2fs
c.4_5fs
NM_001080442.3
p.T176R
c.527C>G
NM_001080442.3
p.G228R
c.682G>C