Papers
RefSeq ID
Protein change
DNA change
1–12 of 847 variants
NM_014208.3
p.V18F
c.52G>T
NM_014208.3
p.Y6D
c.16T>G
NM_014208.3
p.Q45*
c.133C>T
NM_014208.3
p.P17T
c.49C>A
NM_014208.3
p.P17S
c.49C>T
NM_014208.3
p.A15V
c.44C>T
NM_014208.3
p.R68W
c.202A>T
NM_014208.3
p.V18D
c.53T>A
NM_014208.3
p.Q45_D46Splc
c.135+1G>A
NM_014208.3
p.P17L
c.50C>T
NM_014208.3
p.P17_V18Splc
c.52-3C>G
NM_014208.3
p.P17_V18Splc
c.52-3C>A