Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001826.3
p.E63Q
c.187G>C
NM_001826.3
p.K4R
c.11A>G
NM_001826.3
p.Y7F
c.20A>T
NM_001826.3
p.K11delFs
c.33delA
NM_001826.3
p.K11fs
c.31_32fs
NM_001826.3
p.F17delFs
c.51delT
NM_001826.3
p.F17fs
c.49_50fs
NM_001826.3
p.E18Q
c.52G>C
NM_001826.3
p.Y19F
c.56A>T
NM_001826.3
p.R20Q
c.59G>A
NM_001826.3
p.R20Splc
c.59+79G>A
NM_001826.3
p.K26R
c.77A>G