Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_002980.3
p.A122P
c.364G>C
NM_002980.3
p.V16M
c.46G>A
NM_002980.3
p.D196N
c.586G>A
NM_002980.3
p.D110N
c.328G>A
NM_002980.3
p.K195Q
c.583A>C
NM_002980.3
p.F411S
c.1232T>C
NM_002980.3
p.P7L
c.20C>T
NM_002980.3
p.S24_T25Splc
c.72+1G>A
NM_002980.3
p.P29S
c.85C>T
NM_002980.3
p.V37A
c.110T>C
NM_002980.3
p.E41D
c.123G>C
NM_002980.3
p.S50Y
c.149C>A