Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_001007248.3
p.E420*
c.1258G>T
NM_001007248.3
p.L338_Y339delFs
c.1014_1015delAG
NM_001007248.3
p.D13N
c.37G>A
NM_001007248.3
p.T271M
c.812C>T
NM_001007248.3
p.Y339*
c.1017T>G
NM_001007248.3
p.Y339*
c.1017T>A
NM_001007248.3
p.D27A
c.80A>C
NM_001007248.3
p.E36K
c.106G>A
NM_001007248.3
p.L45L
c.135G>A
NM_001007248.3
p.H63L
c.188A>T
NM_001007248.3
p.T78delFs
c.234delG
NM_001007248.3
p.T139I
c.416C>T