Papers
RefSeq ID
Protein change
DNA change
NM_001042706.3
p.L3_E4Splc
c.10-134G>A
NM_001042706.3
p.P12A
c.34C>G
NM_001042706.3
p.N25K
c.75T>A
NM_001042706.3
p.N25K
c.75T>G
NM_001042706.3
p.P45H
c.134C>A
NM_001042706.3
p.E47insFs
c.140_141insA
NM_001042706.3
p.D93N
c.277G>A
NM_001042706.3
p.V100I
c.298G>A