Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_001113523.3
p.A217V
c.650C>T
NM_001113523.3
p.E394K
c.1180G>A
NM_001113523.3
p.G628R
c.1882G>A
NM_001113523.3
p.G628R
c.1882G>C
NM_001113523.3
p.N251I
c.752A>T
NM_001113523.3
p.K581K
c.1743A>G
NM_001113523.3
p.L7F
c.19C>T
NM_001113523.3
p.A39V
c.116C>T
NM_001113523.3
p.V42M
c.124G>A
NM_001113523.3
p.G46R
c.136G>C
NM_001113523.3
p.A50fs
c.148_149fs
NM_001113523.3
p.A50insFs
c.149_150ins5