Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_001135998.3
p.R88*
c.262C>T
NM_001135998.3
p.F92_F93del1
c.276_278delAAG
NM_001135998.3
p.F93del1
c.277_278delAAA
NM_001135998.3
p.Y108*
c.324T>G
NM_001135998.3
p.Y108*
c.324T>A
NM_001135998.3
p.W85*
c.254G>A
NM_001135998.3
p.W85*
c.255G>A
NM_001135998.3
p.P110S
c.328C>T
NM_001135998.3
p.E121K
c.361G>A
NM_001135998.3
p.S96P
c.286T>C
NM_019056.7
p.R134fs
c.400_401fs
NM_001135998.3
p.A131T
c.391G>A