Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_004268.5
p.L371P
c.1112T>C
NM_004268.5
p.L495W
c.1484T>G
NM_004268.5
p.S338Splc
c.1013-5A>G
NM_004268.5
p.S338fs
c.1012_1013fs
NM_004268.5
p.R406T
c.1217G>C
NM_004268.5
p.R583H
c.1748G>A
NM_004268.5
p.V19I
c.55G>A
NM_004268.5
p.E69D
c.207G>C
NM_004268.5
p.E69D
c.207G>T
NM_004268.5
p.G253R
c.757G>A
NM_004268.5
p.Q68P
c.203A>C
NM_004268.5
p.K226N
c.678G>C