Papers
RefSeq ID
Protein change
DNA change
1–12 of 267 variants
NM_003052.5
p.V91_G98del0
c.272_292del21
NM_003052.5
p.V147M
c.439G>A
NM_003052.5
p.A133V
c.398C>T
NM_003052.5
p.R512C
c.1534C>T
NM_003052.5
p.R495H
c.1484G>A
NM_003052.5
p.C336Splc
c.1006+1G>A
NM_003052.5
p.V408E
c.1223T>A
NM_003052.5
p.Y489C
c.1466A>G
NM_003052.5
p.G153V
c.458G>T
NM_003052.5
p.R215Splc
c.644+1G>A
NM_003052.5
p.I456N
c.1367T>A
NM_003052.5
p.G153A
c.458G>C