Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_006986.4
p.M1T
c.2T>C
NM_006986.4
p.Q15_A16Splc
c.46-156C>A
NM_006986.4
p.Q35R
c.104A>G
NM_006986.4
p.I36I
c.108C>T
NM_006986.4
p.P74L
c.221C>T
NM_006986.4
p.K75M
c.224A>T
NM_006986.4
p.A77V
c.230C>T
NM_006986.4
p.A100D
c.299C>A
NM_006986.4
p.P104R
c.311C>G
NM_006986.4
p.A111_K113del0
c.332_337del6
NM_006986.4
p.P122L
c.365C>T
NM_006986.4
p.T152I
c.455C>T