Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_001024598.4
p.N10S
c.29A>G
NM_001024598.4
p.Q65H
c.195A>C
NM_001024598.4
p.Q65H
c.195A>T
NM_001024598.4
p.P96T
c.286C>A
NM_001024598.4
p.E2K
c.4G>A
NM_001024598.4
p.R6_A7insFs
c.16_20dup5
NM_001024598.4
p.R8fs
c.22_23fs
NM_001024598.4
p.R8H
c.23G>A
NM_001024598.4
p.N10N
c.30T>C
NM_001024598.4
p.E14D
c.42G>C
NM_001024598.4
p.E14D
c.42G>T
NM_001024598.4
p.Q15K
c.43C>A