Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_016424.5
p.K259R
c.776A>G
NM_016424.5
p.M1I
c.3G>A
NM_016424.5
p.Q6K
c.16C>A
NM_016424.5
p.R14Q
c.41G>A
NM_016424.5
p.P20Q
c.59C>A
NM_016424.5
p.D30A
c.89A>C
NM_016424.5
p.V34insFs
c.100_101insAG
NM_016424.5
p.F42Y
c.125T>A
NM_016424.5
p.L47F
c.141G>C
NM_016424.5
p.L47F
c.141G>T
NM_016424.5
p.P57Q
c.170C>A
NM_016424.5
p.I61T
c.182T>C