Papers
RefSeq ID
Protein change
DNA change
1–12 of 216 variants
NM_003982.4
p.G209Splc
c.625+1G>A
NM_003982.4
p.R410*
c.1228C>T
NM_003982.4
p.L395_S396delFs
c.1185_1188del4
NM_003982.4
p.L334R
c.1001T>G
NM_003982.4
p.V298_T299Splc
c.895-2A>T
NM_003982.4
p.W242*
c.726G>A
NM_003982.4
p.S238F
c.713C>T
NM_003982.4
p.C425R
c.1273T>C
NM_003982.4
p.L124P
c.371T>C
NM_003982.4
p.R333Splc
c.999-2A>T
NM_003982.4
p.Y457*
c.1371C>G
NM_003982.4
p.Y457*
c.1371C>A