Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_004428.3
p.D159V
c.476A>T
NM_004428.3
p.E137V
c.410A>T
NM_004428.3
p.L9F
c.27G>C
NM_004428.3
p.L9F
c.27G>T
NM_004428.3
p.S14N
c.41G>A
NM_004428.3
p.N26D
c.76A>G
NM_004428.3
p.K31Splc
c.92+31G>A
NM_004428.3
p.K31Splc
c.92+117C>A
NM_004428.3
p.K31Splc
c.92+147C>G
NM_004428.3
p.K31Splc
c.93-36T>C
NM_004428.3
p.I39T
c.116T>C
NM_004428.3
p.Y46C
c.137A>G