Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_015055.4
p.Q505E
c.1513C>G
NM_015055.4
p.N102fs
c.304_305fs
NM_015055.4
p.L544F
c.1632A>C
NM_015055.4
p.L544F
c.1632A>T
NM_015055.4
p.K100insFs
c.298dupA
NM_015055.4
p.R376H
c.1127G>A
NM_015055.4
p.S28_K29insFs
c.84_85insC
NM_015055.4
p.K29fs
c.85_86fs
NM_015055.4
p.K33_V34Splc
c.100-65C>T
NM_015055.4
p.K33_V34Splc
c.100-47T>C
NM_015055.4
p.L35_P46del0
c.103_138del36
NM_015055.4
p.L35_C40del0
c.105_119del15