Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001013625.4
p.Q9_Y10Splc
c.27+1G>T
NM_001013625.4
p.S6S
c.18T>C
NM_001013625.4
p.S34F
c.101C>T
NM_001013625.4
p.N44N
c.132C>T
NM_001013625.4
p.S52F
c.155C>T
NM_001013625.4
p.G62insFs
c.185dupG
NM_001013625.4
p.M65K
c.194T>A
NM_001013625.4
p.P71S
c.211C>T
NM_001013625.4
p.P76delFs
c.227delG
NM_001013625.4
p.A77V
c.230C>T
NM_001013625.4
p.T82I
c.245C>T
NM_001013625.4
p.K104*
c.310A>T