Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_003794.4
p.A403T
c.1207G>A
NM_003794.4
p.L17F
c.51G>T
NM_003794.4
p.L17F
c.51G>C
NM_003794.4
p.S42N
c.125G>A
NM_003794.4
p.W54delFs
c.161delC
NM_003794.4
p.E78*
c.232G>T
NM_003794.4
p.L84L
c.252C>A
NM_003794.4
p.E109A
c.326A>C
NM_003794.4
p.E111A
c.332A>C
NM_003794.4
p.L162I
c.484C>A
NM_003794.4
p.N186D
c.556A>G
NM_003794.4
p.A206V
c.617C>T