Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_052938.5
p.Q118*
c.352C>T
NM_052938.5
p.P120A
c.358C>G
NM_052938.5
p.L343F
c.1027C>T
NM_052938.5
p.E392K
c.1174G>A
NM_052938.5
p.P3L
c.8C>T
NM_052938.5
p.A11Splc
c.32-9C>A
NM_052938.5
p.A11V
c.32C>T
NM_052938.5
p.E18K
c.52G>A
NM_052938.5
p.E18K
c.52G>A
NM_052938.5
p.L43P
c.128T>C
NM_052938.5
p.A60G
c.179C>G
NM_052938.5
p.T81I
c.242C>T