Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_002395.6
p.E83V
c.248A>T
NM_002395.6
p.K362Q
c.1084A>C
NM_002395.6
p.E2D
c.6G>T
NM_002395.6
p.H10H
c.30C>T
NM_002395.6
p.H12R
c.35A>G
NM_002395.6
p.K26_D27Splc
c.79-1G>T
NM_002395.6
p.E52K
c.154G>A
NM_002395.6
p.D68N
c.202G>A
NM_002395.6
p.L108L
c.324G>C
NM_002395.6
p.H132N
c.394C>A
NM_002395.6
p.K146_A147Splc
c.438+3A>G
NM_002395.6
p.G172V
c.515G>T