Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_001258374.3
p.S17L
c.50C>T
NM_001258374.3
p.A203T
c.607G>A
NM_001258374.3
p.L208P
c.623T>C
NM_001258374.3
p.R448C
c.1342C>T
NM_001258374.3
p.P784P
c.2352T>G
NM_001258374.3
p.A3V
c.8C>T
NM_001258374.3
p.L8delFs
c.22delG
NM_001258374.3
p.L8fs
c.22_23fs
NM_001258374.3
p.S17T
c.49T>A
NM_001258374.3
p.D27N
c.79G>A
NM_001258374.3
p.A29fs
c.85_86fs
NM_001258374.3
p.A29delFs
c.86delG