Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_001143830.3
p.R241_M242Splc
c.723+1G>A
NM_001143830.3
p.M1T
c.2T>C
NM_001143830.3
p.I52V
c.154A>G
NM_001143830.3
p.A54E
c.161C>A
NM_001143830.3
p.L67I
c.199C>A
NM_001143830.3
p.L67L
c.201C>A
NM_001143830.3
p.F108L
c.322T>C
NM_001143830.3
p.F108L
c.324T>A
NM_001143830.3
p.F108L
c.324T>G
NM_001143830.3
p.D126N
c.376G>A
NM_001143830.3
p.T178I
c.533C>T
NM_001143830.3
p.S180Y
c.539C>A