Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_001349008.3
p.K64E
c.190A>G
NM_001349008.3
p.L273Q
c.818T>A
NM_001349008.3
p.V774I
c.2320G>A
NM_001159747.2
p.N64D
c.190A>G
NM_001349008.3
p.R1316Splc
c.3947+1G>A
NM_001349008.3
p.M1T
c.2T>C
NM_001349008.3
p.Q5delFs
c.15delA
NM_001349008.3
p.Q5R
c.14A>G
NM_001349008.3
p.E7K
c.19G>A
NM_001349008.3
p.E52_K53insFs
c.156_157insT
NM_001349008.3
p.K53N
c.159G>C
NM_001349008.3
p.Q112_R113Splc
c.336+1588C>T