Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_133477.3
p.Q174H
c.522A>C
NM_133477.3
p.Q174H
c.522A>T
NM_133477.3
p.T573A
c.1717A>G
NM_133477.3
p.K1124*
c.3370A>T
NM_133477.3
p.E49delFs
c.146_147delAG
NM_133477.3
p.Q146_R147del2
c.436_440del6
NM_133477.3
p.Q146_R147del1
c.438_440delAAG
NM_133477.3
p.E709K
c.2125G>A
NM_133477.3
p.G870G
c.2610G>T
NM_133477.3
p.M1I
c.3G>A
NM_133477.3
p.G4E
c.11G>A
NM_133477.3
p.K35_I36Splc
c.105+48183A>C