Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_015352.2
p.E144*
c.430G>T
NM_015352.2
p.W297*
c.891G>A
NM_015352.2
p.K143_E144Splc
c.430-1G>A
NM_015352.2
p.K161fs
c.481_482fs
NM_015352.2
p.W297*
c.890G>A
NM_015352.2
p.S162L
c.485C>T
NM_015352.2
p.M262T
c.785T>C
NM_015352.2
p.S356F
c.1067C>T
NM_015352.2
p.R366W
c.1096C>T
NM_015352.2
p.G2delFs
c.5delG
NM_015352.2
p.W29*
c.86G>A
NM_015352.2
p.W29*
c.87G>A