Papers
RefSeq ID
Protein change
DNA change
1–12 of 202 variants
NM_001058.4
p.I251F
c.751A>T
NM_001058.4
p.V195Splc
c.585-2A>G
NM_001058.4
p.M1V
c.1A>G
NM_001058.4
p.A127A
c.381C>G
NM_001058.4
p.T171A
c.511A>G
NM_001058.4
p.Y192H
c.574T>C
NM_001058.4
p.C199delFs
c.596delC
NM_001058.4
p.N18I
c.53A>T
NM_001058.4
p.N23K
c.69T>A
NM_001058.4
p.V66M
c.196G>A
NM_001058.4
p.A114T
c.340G>A
NM_001058.4
p.M132I
c.396G>A