Papers
RefSeq ID
Protein change
DNA change
1–12 of 132 variants
NM_152416.4
p.Q99R
c.296A>G
NM_152416.4
p.I124T
c.371T>C
NM_152416.4
p.K140_A141Splc
c.420+784C>T
NM_152416.4
p.H269D
c.805C>G
NM_152416.4
p.R274G
c.820A>G
NM_152416.4
p.S76P
c.226T>C
NM_152416.4
p.A178P
c.532G>C
NM_152416.4
p.D69V
c.206A>T
NM_152416.4
p.R113*
c.337C>T
NM_152416.4
p.L185_L186delFs
c.554_558del5
NM_152416.4
p.Q99_V100Splc
c.298-768T>C
NM_152416.4
p.V280I
c.838G>A