Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_176782.3
p.A416V
c.1247C>T
NM_176782.3
p.D51N
c.151G>A
NM_176782.3
p.I112_H115delFs
c.334_343del10
NM_176782.3
p.R247W
c.739C>T
NM_176782.3
p.G526A
c.1577G>C
NM_176782.3
p.V22V
c.66G>A
NM_176782.3
p.R65Q
c.194G>A
NM_176782.3
p.K79N
c.237G>T
NM_176782.3
p.K79N
c.237G>C
NM_176782.3
p.N89K
c.267C>G
NM_176782.3
p.P117fs
c.349_350fs
NM_176782.3
p.L314Splc
c.940+1G>A