Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_001353108.3
p.Q185H
c.555G>C
NM_001353108.3
p.Q185H
c.555G>T
NM_001353108.3
p.E199delFs
c.595delG
NM_001353108.3
p.E199fs
c.595_596fs
NM_001353108.3
p.Y375*
c.1125T>A
NM_001353108.3
p.Y375*
c.1125T>G
NM_001353108.3
p.S651L
c.1952C>T
NM_001353108.3
p.R680H
c.2039G>A
NM_001353108.3
p.W43*
c.128G>A
NM_001353108.3
p.W43*
c.129G>A
NM_001353108.3
p.L61P
c.182T>C
NM_001353108.3
p.R215Q
c.644G>A