Papers
RefSeq ID
Protein change
DNA change
1–12 of 136 variants
NM_000423.3
p.E487K
c.1459G>A
NM_000423.3
p.N186K
c.558C>G
NM_000423.3
p.N186K
c.558C>A
NM_000423.3
p.G104G
c.312T>C
NM_000423.3
p.N186D
c.556A>G
NM_000423.3
p.S100_S101ins5
c.300_301ins15
NM_000423.3
p.S101G
c.301A>G
NM_000423.3
p.N186S
c.557A>G
NM_000423.3
p.Q300_S301ins15
c.898_902ins45
NM_000423.3
p.A517G
c.1550C>G
NM_000423.3
p.S101_F102ins1
c.303_304insGGC
NM_000423.3
p.G104ins6
c.311_312ins18