Papers
RefSeq ID
Protein change
DNA change
1–12 of 165 variants
NM_194436.3
p.N479I
c.1436A>T
NM_194436.3
p.V69A
c.206T>C
NM_153486.4
p.T251M
c.752C>T
NM_194436.3
p.E277Splc
c.830-1G>T
NM_153486.4
p.R370W
c.1108C>T
NM_153486.4
p.W374C
c.1122G>T
NM_153486.4
p.W374C
c.1122G>C
NM_153486.4
p.T463M
c.1388C>T
NM_194436.3
p.K482E
c.1444A>G
NM_194436.3
p.M1I
c.3G>T
NM_194436.3
p.L4L
c.12G>C
NM_194436.3
p.L12Q
c.35T>A