Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_006806.5
p.A6T
c.16G>A
NM_006806.5
p.A7T
c.19G>A
NM_006806.5
p.L34*
c.101T>A
NM_006806.5
p.L38L
c.114T>C
NM_006806.5
p.E49E
c.147A>G
NM_006806.5
p.V68I
c.202G>A
NM_006806.5
p.D85E
c.255C>G
NM_006806.5
p.D85E
c.255C>A
NM_006806.5
p.V96L
c.286G>T
NM_006806.5
p.V96L
c.286G>C
NM_006806.5
p.C102W
c.306C>G
NM_001130914.2
p.P129delFs
c.387delG