Papers
RefSeq ID
Protein change
DNA change
1–12 of 369 variants
NM_144585.4
p.W258*
c.774G>A
NM_144585.4
p.W258*
c.773G>A
NM_144585.4
p.R90H
c.269G>A
NM_144585.4
p.T467M
c.1400C>T
NM_144585.4
p.R477H
c.1430G>A
NM_144585.4
p.Q382L
c.1145A>T
NM_144585.4
p.L415_L418del0
c.1245_1253del9
NM_144585.4
p.V138M
c.412G>A
NM_144585.4
p.R169Splc
c.506+1G>A
NM_144585.4
p.T217M
c.650C>T
NM_144585.4
p.Q297*
c.889C>T
NM_144585.4
p.H86H
c.258C>T