Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_152453.4
p.Q32H
c.96G>C
NM_152453.4
p.Q32H
c.96G>T
NM_152453.4
p.D19E
c.57C>A
NM_152453.4
p.D19E
c.57C>G
NM_152453.4
p.E21Q
c.61G>C
NM_152453.4
p.R56W
c.166C>T
NM_152453.4
p.V59L
c.175G>C
NM_152453.4
p.V59L
c.175G>T
NM_152453.4
p.V59_E60delFs
c.177_178delGG
NM_152453.4
p.D61D
c.183T>C
NM_152453.4
p.L88_E89Splc
c.264+12G>A
NM_152453.4
p.Q104*
c.310C>T