Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001322331.2
p.D62Splc
c.184+60C>T
Surrounding Variants
NM_001322331.2
p.D62Splc
c.184+100A>T
NM_001322331.2
p.D45_L48delFs
c.134_143del10
NM_001322331.2
p.I46T
c.137T>C
NM_001322331.2
p.I46V
c.136A>G
NM_001322331.2
p.D45Splc
c.134-39A>G
NM_001322331.2
p.K74E
c.220A>G
NM_001322331.2
p.K97fs
c.289_290fs
NM_001322331.2
p.K97delFs
c.291delT