Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_003983.6
p.K417R
c.1250A>G
NM_003983.6
p.M1L
c.1A>C
NM_003983.6
p.M1L
c.1A>T
NM_003983.6
p.I174insFs
c.520_521insT
NM_003983.6
p.E5K
c.13G>A
NM_003983.6
p.H14L
c.41A>T
NM_003983.6
p.E26D
c.78A>C
NM_003983.6
p.E26D
c.78A>T
NM_003983.6
p.Q40insFs
c.119dupA
NM_003983.6
p.G62V
c.185G>T
NM_003983.6
p.L132L
c.394C>T
NM_003983.6
p.L176Q
c.527T>A