Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_018217.3
p.A456T
c.1366G>A
NM_018217.3
p.P2T
c.4C>A
NM_018217.3
p.P17L
c.50C>T
NM_018217.3
p.A33D
c.98C>A
NM_018217.3
p.V39F
c.115G>T
NM_018217.3
p.V39I
c.115G>A
NM_018217.3
p.Y50fs
c.148_149fs
NM_018217.3
p.Y50_A54delFs
c.149_162del14
NM_018217.3
p.C65W
c.195T>G
NM_018217.3
p.D80Y
c.238G>T
NM_018217.3
p.D80V
c.239A>T
NM_018217.3
p.L86_I87Splc
c.259-106G>A