Papers
RefSeq ID
Protein change
DNA change
1–12 of 177 variants
NM_003748.4
p.S352L
c.1055C>T
NM_003748.4
p.G521fs
c.1561_1562fs
NM_003748.4
p.P16L
c.47C>T
NM_003748.4
p.A7fs
c.19_20fs
NM_003748.4
p.P138L
c.413C>T
NM_003748.4
p.F388L
c.1162T>C
NM_003748.4
p.F388L
c.1164C>G
NM_003748.4
p.F388L
c.1164C>A
NM_003748.4
p.V470I
c.1408G>A
NM_003748.4
p.T528N
c.1583C>A
NM_003748.4
p.R15S
c.43C>A
NM_003748.4
p.R47*
c.139C>T