Papers
RefSeq ID
Protein change
DNA change
1–12 of 222 variants
NM_198551.4
p.K605R
c.1814A>G
NM_198551.4
p.E881G
c.2642A>G
NM_198551.4
p.K482E
c.1444A>G
NM_198551.4
p.R1207R
c.3621A>G
NM_198551.4
p.T367S
c.1099A>T
NM_198551.4
p.T367S
c.1100C>G
NM_198551.4
p.I834V
c.2500A>G
NM_198551.4
p.S89_V90Splc
c.268-4G>A
NM_198551.4
p.T120M
c.359C>T
NM_198551.4
p.D856N
c.2566G>A
NM_198551.4
p.D879E
c.2637C>A
NM_198551.4
p.D879E
c.2637C>G