Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_030759.5
p.D135N
c.403G>A
NM_030759.5
p.M1_E2delFs
c.1_5del5
NM_030759.5
p.M1_E5del5
c.1_14del15
NM_030759.5
p.M1V
c.1A>G
NM_030759.5
p.M4fs
c.10_11fs
NM_030759.5
p.P7insFs
c.19dupC
NM_030759.5
p.P7S
c.19C>T
NM_030759.5
p.N9insFs
c.27dupC
NM_030759.5
p.L10_A11Splc
c.30+7904C>G
NM_030759.5
p.Q13insFs
c.39dupA
NM_030759.5
p.Y40H
c.118T>C
NM_030759.5
p.Y40C
c.119A>G