Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_003929.3
p.Q67L
c.200A>T
NM_003929.3
p.R4_D5insFs
c.12_13insT
NM_003929.3
p.K157R
c.470A>G
NM_003929.3
p.Q104E
c.310C>G
NM_003929.3
p.A17insFs
c.49_50insG
NM_003929.3
p.R58W
c.172C>T
NM_003929.3
p.E68Q
c.202G>C
NM_003929.3
p.S72A
c.214T>G
NM_003929.3
p.W151*
c.452G>A
NM_003929.3
p.D5A
c.14A>C
NM_003929.3
p.V13E
c.38T>A
NM_003929.3
p.D15insFs
c.43dupG