Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_016277.5
p.L145*
c.434T>A
NM_016277.5
p.L145*
c.434T>G
NM_016277.5
p.C85R
c.253T>C
NM_016277.5
p.V161Splc
c.482-1G>A
NM_016277.5
p.G207S
c.619G>A
NM_016277.5
p.M12K
c.35T>A
NM_016277.5
p.R28*
c.82C>T
NM_016277.5
p.L47insFs
c.140_141insA
NM_016277.5
p.R80*
c.238C>T
NM_016277.5
p.E137*
c.409G>T
NM_016277.5
p.A140_K141insA
c.418_422ins3
NM_016277.5
p.R28Q
c.83G>A