Papers
RefSeq ID
Protein change
DNA change
1–12 of 571 variants
NM_001082971.2
p.F238_M239Splc
c.714+4A>T
NM_001082971.2
p.R347Q
c.1040G>A
NM_001082971.2
p.R412W
c.1234C>T
NM_001082971.2
p.S250F
c.749C>T
NM_001082971.2
p.G102S
c.304G>A
NM_001082971.2
p.T69M
c.206C>T
NM_001082971.2
p.G96R
c.286G>A
NM_001082971.2
p.V60A
c.179T>C
NM_001082971.2
p.G96R
c.286G>C
NM_001082971.2
p.R285W
c.853C>T
NM_001082971.2
p.R358H
c.1073G>A
NM_001082971.2
p.P87L
c.260C>T