Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_016551.3
p.V175I
c.523G>A
NM_016551.3
p.P248L
c.743C>T
NM_016551.3
p.L7L
c.21G>C
NM_016551.3
p.E15K
c.43G>A
NM_016551.3
p.S28F
c.83C>T
NM_016551.3
p.F43L
c.127T>C
NM_016551.3
p.F43L
c.129C>G
NM_016551.3
p.F43L
c.129C>A
NM_016551.3
p.Q68H
c.204A>T
NM_016551.3
p.Q68H
c.204A>C
NM_016551.3
p.V78A
c.233T>C
NM_016551.3
p.D133Splc
c.398-37A>T