Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001005281.3
p.R8*
c.22C>T
NM_001005281.3
p.Y35H
c.103T>C
NM_001005281.3
p.F94delFs
c.281_282delTC
NM_001005281.3
p.Q100H
c.300A>C
NM_001005281.3
p.Q100H
c.300A>T
NM_001005281.3
p.M118T
c.353T>C
NM_001005281.3
p.R122Q
c.365G>A
NM_001005281.3
p.A125V
c.374C>T
NM_001005281.3
p.R143C
c.427C>T
NM_001005281.3
p.I151V
c.451A>G
NM_001005281.3
p.I213V
c.637A>G
NM_001005281.3
p.A277V
c.830C>T