Papers
RefSeq ID
Protein change
DNA change
1–12 of 183 variants
NM_031293.3
p.Q488*
c.1462C>T
NM_031293.3
p.R909*
c.2725C>T
NM_031293.3
p.Y109*
c.327T>A
NM_031293.3
p.Q121*
c.361C>T
NM_031293.3
p.R361W
c.1081C>T
NM_031293.3
p.E696_I697Splc
c.2089-1G>T
NM_031293.3
p.Q802*
c.2404C>T
NM_031293.3
p.E48K
c.142G>A
NM_031293.3
p.E138_V139Splc
c.414+1G>T
NM_031293.3
p.I171S
c.512T>G
NM_031293.3
p.L552V
c.1654C>G
NM_031293.3
p.I697fs
c.2089_2090fs