Papers
RefSeq ID
Protein change
DNA change
1–12 of 151 variants
NM_001632.5
p.R231P
c.692G>C
NM_001632.5
p.L13del1
c.37_38delCTG
NM_001632.5
p.P25L
c.74C>T
NM_001632.5
p.E451G
c.1352A>G
NM_001632.5
p.I89L
c.265A>C
NM_001632.5
p.I89L
c.265A>T
NM_001632.5
p.E440E
c.1320G>A
NM_001632.5
p.L2_G3delFs
c.6_7delGG
NM_001632.5
p.M6_L7del2
c.16_20del6
NM_001632.5
p.L17_L19del3
c.49_56del9
NM_001632.5
p.E37Q
c.109G>C
NM_001632.5
p.T104P
c.310A>C