Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_001129998.3
p.T6N
c.17C>A
NM_001129998.3
p.S73*
c.218C>A
NM_001129998.3
p.Y7Y
c.21C>T
NM_001129998.3
p.L51P
c.152T>C
NM_001129998.3
p.T59T
c.177A>G
NM_001129998.3
p.S73*
c.218C>G
NM_001129998.3
p.S75T
c.223T>A
NM_001129998.3
p.L96delFs
c.288delG
NM_001129998.3
p.G97fs
c.289_290fs
NM_001129998.3
p.E105K
c.313G>A
NM_001129998.3
p.V116L
c.346G>C
NM_001129998.3
p.V116L
c.346G>T