Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001320.7
p.E57delFs
c.170delA
Surrounding Variants
NM_001320.7
p.E57fs
c.169_170fs
NM_001320.7
p.L56P
c.167T>C
NM_001320.7
p.D55fs
c.163_164fs
NM_001320.7
p.D59Splc
c.175+1G>A
NM_001320.7
p.D59Splc
c.175+1G>C
NM_001320.7
p.D59Splc
c.175+2T>G
NM_001320.7
p.I53insFs
c.158_159insA
NM_001320.7
p.L50P
c.149T>C
NM_001320.7
p.Q48*
c.142C>T
NM_001320.7
p.R47Q
c.140G>A
NM_001320.7
p.R47G
c.139C>G
NM_001320.7
p.R47*
c.139C>T