Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_001352171.3
p.Q245_V246Splc
c.736-1G>A
NM_001352171.3
p.I9insFs
c.25dupA
NM_001352171.3
p.I9fs
c.25_26fs
NM_001352171.3
p.R29H
c.86G>A
NM_001352171.3
p.D36N
c.106G>A
NM_001352171.3
p.S44G
c.130A>G
NM_001352171.3
p.I49M
c.147T>G
NM_001352171.3
p.A61fs
c.181_182fs
NM_001352171.3
p.L69S
c.206T>C
NM_001352171.3
p.R79T
c.236G>C
NM_001352171.3
p.Y86H
c.256T>C
NM_001352171.3
p.C118S
c.352T>A