Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_001005288.3
p.Q15*
c.43C>T
NM_001005288.3
p.A252S
c.754G>T
NM_001005288.3
p.T7N
c.20C>A
NM_001005288.3
p.N5S
c.14A>G
NM_001005288.3
p.T7insFs
c.20dupC
NM_001005288.3
p.T24A
c.70A>G
NM_001005288.3
p.L31M
c.91C>A
NM_001005288.3
p.M38L
c.112A>T
NM_001005288.3
p.M38L
c.112A>C
NM_001005288.3
p.N44S
c.131A>G
NM_001005288.3
p.F64L
c.190T>C
NM_001005288.3
p.F64L
c.192C>G