Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_199243.3
p.A269T
c.805G>A
NM_199243.3
p.P14R
c.41C>G
NM_199243.3
p.R42H
c.125G>A
NM_199243.3
p.R66L
c.197G>T
NM_199243.3
p.G76fs
c.226_227fs
NM_199243.3
p.Q88*
c.262C>T
NM_199243.3
p.G185R
c.553G>A
NM_199243.3
p.G185R
c.553G>C
NM_199243.3
p.T198M
c.593C>T
NM_199243.3
p.F234L
c.700T>C
NM_199243.3
p.F234L
c.702C>A
NM_199243.3
p.F234L
c.702C>G