Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_002000.4
p.I19T
c.56T>C
NM_002000.4
p.T282A
c.844A>G
NM_002000.4
p.D113N
c.337G>A
NM_002000.4
p.P40S
c.118C>T
NM_002000.4
p.R69delFs
c.206_207delGA
NM_002000.4
p.I104T
c.311T>C
NM_002000.4
p.G121Splc
c.361+1G>A
NM_002000.4
p.P175P
c.525G>A
NM_002000.4
p.C10Y
c.29G>A
NM_002000.4
p.V12Splc
c.35-6T>C
NM_002000.4
p.V12Splc
c.35-1G>C
NM_002000.4
p.G24Splc
c.70+2T>C