Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_001011658.4
p.D47Y
c.139G>T
NM_001011658.4
p.S73L
c.218C>T
NM_001011658.4
p.K31_D32Splc
c.93+5G>A
NM_001011658.4
p.V130D
c.389T>A
NM_001011658.4
p.H80Splc
c.238+1A>G
NM_001011658.4
p.Q131*
c.391C>T
NM_001011658.4
p.W70*
c.209G>A
NM_001011658.4
p.W70*
c.210G>A
NM_001011658.4
p.H80Splc
c.238+4T>C
NM_001011658.4
p.F83S
c.248T>C
NM_001011658.4
p.S110*
c.329C>A
NM_001011658.4
p.R122*
c.364C>T