Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
NM_003478.6
p.C188F
c.563G>T
NM_003478.6
p.V355I
c.1063G>A
NM_003478.6
p.A372A
c.1116G>A
NM_003478.6
p.D469N
c.1405G>A
NM_003478.6
p.N9S
c.26A>G
NM_003478.6
p.F41L
c.123T>A
NM_003478.6
p.S45Splc
c.135-563A>T
NM_003478.6
p.H48N
c.142C>A
NM_003478.6
p.L52V
c.154C>G
NM_003478.6
p.L70I
c.208C>A
NM_003478.6
p.F72L
c.214T>C
NM_003478.6
p.F72L
c.216T>A