Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
NM_003859.3
p.R92G
c.274C>G
NM_003859.3
p.S248P
c.742T>C
NM_003859.3
p.Q210delFs
c.628delG
NM_003859.3
p.R14W
c.40C>T
NM_003859.3
p.G152V
c.455G>T
NM_003859.3
p.H124_P125Splc
c.373-5T>A
NM_003859.3
p.M1L
c.1A>C
NM_003859.3
p.G111_I115delFs
c.331_343del13
NM_003859.3
p.M1L
c.1A>T
NM_003859.3
p.K80_I81del1
c.239_241delTCT
NM_003859.3
p.G111fs
c.331_332fs
NM_003859.3
p.I132T
c.395T>C