Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_006537.4
p.C168S
c.502T>A
NM_006537.4
p.C168S
c.503G>C
NM_006537.4
p.S284F
c.851C>T
NM_006537.4
p.P4T
c.10C>A
NM_006537.4
p.P4R
c.11C>G
NM_006537.4
p.C49*
c.147T>A
NM_006537.4
p.K59I
c.176A>T
NM_006537.4
p.H60R
c.179A>G
NM_006537.4
p.V66I
c.196G>A
NM_006537.4
p.K73R
c.218A>G
NM_006537.4
p.K76E
c.226A>G
NM_006537.4
p.V114L
c.340G>C