Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
NM_001251.3
p.M1T
c.2T>C
NM_001251.3
p.L33R
c.98T>G
NM_001251.3
p.T60A
c.178A>G
NM_001251.3
p.Q254K
c.760C>A
NM_001251.3
p.L284F
c.850C>T
NM_001251.3
p.M1_A10delFs
c.1_28del28
NM_001251.3
p.M1V
c.1A>G
NM_001251.3
p.R2T
c.5G>C
NM_001251.3
p.G9E
c.26G>A
NM_001251.3
p.L14Q
c.41T>A
NM_001251.3
p.Q18L
c.53A>T
NM_001251.3
p.Q18H
c.54G>T