Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001135022.2
p.Q18*
c.52C>T
Surrounding Variants
NM_001135022.2
p.Q18_G19Splc
c.54+3A>G
NM_001135022.2
p.E3V
c.8A>T
NM_001135022.2
p.Q18_G19Splc
c.55-1019T>C
NM_001135022.2
p.D33H
c.97G>C
NM_001135022.2
p.P43_I44Splc
c.129+5G>A
NM_001135022.2
p.I44I
c.132C>T
NM_001135022.2
p.K48R
c.143A>G
NM_001135022.2
p.H50D
c.148C>G
NM_001135022.2
p.R66C
c.196C>T