Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_145278.5
p.R30Splc
c.89+1G>A
NM_145278.5
p.G2E
c.5G>A
NM_145278.5
p.S10Splc
c.30-150C>T
NM_145278.5
p.G13R
c.37G>A
NM_145278.5
p.G13R
c.37G>C
NM_145278.5
p.S47R
c.139A>C
NM_145278.5
p.S47R
c.141C>A
NM_145278.5
p.S47R
c.141C>G
NM_145278.5
p.S47R
c.141C>A
NM_145278.5
p.Q56_E57Splc
c.169-163G>T
NM_145278.5
p.N73H
c.217A>C
NM_145278.5
p.H74Y
c.220C>T