Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_014595.3
p.P68L
c.203C>T
NM_014595.3
p.D12N
c.34G>A
NM_014595.3
p.D10N
c.28G>A
NM_014595.3
p.G25insFs
c.74_75insG
NM_014595.3
p.D56H
c.166G>C
NM_014595.3
p.L74_E75insG
c.220_224ins3
NM_014595.3
p.V95A
c.284T>C
NM_014595.3
p.I97M
c.291C>G
NM_014595.3
p.C98*
c.294C>A
NM_014595.3
p.T99P
c.295A>C
NM_014595.3
p.G121E
c.362G>A
NM_014595.3
p.I129insFs
c.385_386insA