Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_000046.5
p.P130L
c.389C>T
Surrounding Variants
NM_000046.5
p.L129del1
c.385_386delCAG
NM_000046.5
p.L128del1
c.382_383delGAG
NM_000046.5
p.L129P
c.386T>C
NM_000046.5
p.L129fs
c.385_386fs
NM_000046.5
p.L132P
c.395T>C
NM_000046.5
p.E126*
c.376G>T
NM_000046.5
p.D125_E126insFs
c.375_376insT
NM_000046.5
p.E135*
c.403G>T
NM_000046.5
p.A136T
c.406G>A
NM_000046.5
p.P116_P123del8
c.346_368del24
NM_000046.5
p.L124L
c.370C>T
NM_000046.5
p.G137V
c.410G>T