Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_014232.3
p.S75P
c.223T>C
NM_014232.3
p.F77S
c.230T>C
NM_014232.3
p.V43del1
c.127_128delCAC
NM_014232.3
p.A67P
c.199G>C
NM_014232.3
p.E78A
c.233A>C
NM_014232.3
p.I45del1
c.133_134delGAT
NM_014232.3
p.T35A
c.103A>G
NM_014232.3
p.R56L
c.167G>T
NM_014232.3
p.G73W
c.217G>T
NM_014232.3
p.Q76H
c.228G>T
NM_014232.3
p.Q76H
c.228G>C
NM_014232.3
p.G100V
c.299G>T