Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_152539.3
p.S447L
c.1340C>T
NM_152539.3
p.D473E
c.1419C>G
NM_152539.3
p.P12fs
c.34_35fs
NM_152539.3
p.E32del1
c.94_95delGAA
NM_152539.3
p.G312S
c.934G>A
NM_152539.3
p.Q353E
c.1057C>G
NM_152539.3
p.E457K
c.1369G>A
NM_152539.3
p.D473E
c.1419C>A
NM_152539.3
p.E2Q
c.4G>C
NM_152539.3
p.E11delFs
c.32_33delAA
NM_152539.3
p.E32_D33del2
c.94_98del6
NM_152539.3
p.Q35R
c.104A>G