Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_203394.3
p.E2fs
c.4_5fs
NM_203394.3
p.E418G
c.1253A>G
NM_203394.3
p.R185H
c.554G>A
NM_203394.3
p.P275R
c.824C>G
NM_203394.3
p.R334H
c.1001G>A
NM_203394.3
p.S840F
c.2519C>T
NM_203394.3
p.H854Q
c.2562T>G
NM_203394.3
p.H854Q
c.2562T>A
NM_203394.3
p.Q855_S856Splc
c.2565+2T>G
NM_203394.3
p.V3L
c.7G>T
NM_203394.3
p.V3L
c.7G>C
NM_203394.3
p.V23D
c.68T>A