Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001276309.3
p.E21Q
c.61G>C
NM_001276309.3
p.G138D
c.413G>A
NM_001276309.3
p.A80T
c.238G>A
NM_001276309.3
p.C124Y
c.371G>A
NM_001276309.3
p.P128S
c.382C>T
NM_001276309.3
p.A136S
c.406G>T
NM_001276309.3
p.P139R
c.416C>G
NM_001276309.3
p.G148R
c.442G>A
NM_001276309.3
p.M1fs
c.1_2fs
NM_001276309.3
p.M1_I12delFs
c.3_36del34
NM_001276309.3
p.P8L
c.23C>T
NM_001276309.3
p.E10*
c.28G>T