Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_024552.3
p.A366T
c.1096G>A
NM_024552.3
p.R139W
c.415A>T
NM_024552.3
p.R122W
c.364C>T
NM_024552.3
p.H156_E157Splc
c.468+1G>A
NM_024552.3
p.A353V
c.1058C>T
NM_024552.3
p.E24K
c.70G>A
NM_024552.3
p.E24V
c.71A>T
NM_024552.3
p.L25L
c.73C>T
NM_024552.3
p.R28Q
c.83G>A
NM_024552.3
p.L47M
c.139C>A
NM_024552.3
p.F56V
c.166T>G
NM_024552.3
p.P80fs
c.238_239fs