Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_001127893.3
p.N46K
c.138C>A
NM_001127893.3
p.N46K
c.138C>G
NM_001127893.3
p.S128_E129delFs
c.384_387del4
NM_001127893.3
p.E129fs
c.385_386fs
NM_001127893.3
p.T150I
c.449C>T
NM_001127893.3
p.K45M
c.134A>T
NM_001127893.3
p.V53L
c.157G>C
NM_001127893.3
p.T71M
c.212C>T
NM_001127893.3
p.G83insFs
c.247dupG
NM_001127893.3
p.R86Q
c.257G>A
NM_001127893.3
p.D90Y
c.268G>T
NM_001127893.3
p.D90E
c.270T>A