Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
NM_005720.4
p.K37N
c.111G>C
NM_005720.4
p.K37N
c.111G>T
NM_005720.4
p.A105V
c.314C>T
NM_005720.4
p.Q22Splc
c.64+1G>C
NM_005720.4
p.Q22Splc
c.64+1G>A
NM_005720.4
p.T89P
c.265A>C
NM_005720.4
p.W131Splc
c.392+2T>C
NM_005720.4
p.V208F
c.622G>T
NM_005720.4
p.A261A
c.783G>A
NM_005720.4
p.W104S
c.311G>C
NM_005720.4
p.P106delFs
c.318delC
NM_005720.4
p.E363insFs
c.1087dupG