Papers
RefSeq ID
Protein change
DNA change
1–12 of 107 variants
NM_006236.3
p.R362L
c.1085G>T
NM_006236.3
p.R407L
c.1220G>T
NM_006236.3
p.G246_A247del1
c.737_739delGCG
NM_006236.3
p.Q340L
c.1019A>T
NM_006236.3
p.D66Fs
c.196_197delinsTFs
NM_006236.3
p.D66fs
c.196_197fs
NM_006236.3
p.G300del1
c.898_899delGGC
NM_006236.3
p.Q331_L336del0
c.992_1006del15
NM_006236.3
p.Q340delins
c.1018_1019delinsTT
NM_006236.3
p.C428*
c.1284C>A
NM_006236.3
p.R451fs
c.1351_1352fs
NM_006236.3
p.G35del1
c.103_105delGGC