Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001004700.3
p.Q157*
c.469C>T
NM_001004700.3
p.L15I
c.43T>A
NM_001004700.3
p.S154Y
c.461C>A
NM_001004700.3
p.E291*
c.871G>T
NM_001004700.3
p.M1insFs
c.2dupT
NM_001004700.3
p.N5D
c.13A>G
NM_001004700.3
p.L13S
c.38T>C
NM_001004700.3
p.Q17*
c.49C>T
NM_001004700.3
p.R51W
c.151C>T
NM_001004700.3
p.R51P
c.152G>C
NM_001004700.3
p.F66L
c.196T>C
NM_001004700.3
p.F66L
c.198T>G