Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_012097.4
p.R7fs
c.19_20fs
NM_012097.4
p.R7delFs
c.20delC
NM_012097.4
p.W9*
c.26G>A
NM_012097.4
p.W9*
c.27G>A
NM_012097.4
p.N13K
c.39T>G
NM_012097.4
p.N13K
c.39T>A
NM_012097.4
p.E16Splc
c.47-127G>A
NM_012097.4
p.L63L
c.189A>T
NM_012097.4
p.Q70L
c.209A>T
NM_012097.4
p.R96T
c.287G>C
NM_012097.4
p.N125S
c.374A>G
NM_012097.4
p.H150R
c.449A>G