Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001353453.3
p.P15fs
c.43_44fs
NM_001353453.3
p.P15delFs
c.45delT
NM_001353453.3
p.E167delFs
c.501delA
NM_001353453.3
p.E167fs
c.499_500fs
NM_001353453.3
p.T36M
c.107C>T
NM_001353453.3
p.E45G
c.134A>G
NM_001353453.3
p.R53G
c.157A>G
NM_001353453.3
p.S199G
c.595A>G
NM_001353453.3
p.E237Q
c.709G>C
NM_001353453.3
p.N240I
c.719A>T
NM_001353453.3
p.G276R
c.826G>A
NM_001353453.3
p.G276R
c.826G>C