Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001080417.3
p.K213T
c.638A>C
NM_001080417.3
p.K251E
c.751A>G
NM_001080417.3
p.G25Splc
c.74-4G>A
NM_001080417.3
p.P53S
c.157C>T
NM_001080417.3
p.K56N
c.168G>T
NM_001080417.3
p.K56N
c.168G>C
NM_001080417.3
p.K56K
c.168G>A
NM_001080417.3
p.D57N
c.169G>A
NM_001080417.3
p.P91S
c.271C>T
NM_001080417.3
p.D93N
c.277G>A
NM_001080417.3
p.A112Fs
c.336delinsCAFs
NM_001080417.3
p.W114R
c.340T>C