Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_001008391.4
p.N6S
c.17A>G
NM_001008391.4
p.F284S
c.851T>C
NM_001008391.4
p.E448fs
c.1342_1343fs
NM_001008391.4
p.S929F
c.2786C>T
NM_001008391.4
p.V959G
c.2876T>G
NM_001008391.4
p.R42H
c.125G>A
NM_001008391.4
p.R45M
c.134G>T
NM_001008391.4
p.R45_E46Splc
c.135+14924C>A
NM_001008391.4
p.Q63L
c.188A>T
NM_001008391.4
p.A88T
c.262G>A
NM_001008391.4
p.K107fs
c.319_320fs
NM_001008391.4
p.K146E
c.436A>G