Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_001281.3
p.P235L
c.704C>T
NM_001281.3
p.V6fs
c.16_17fs
NM_001281.3
p.R30G
c.88C>G
NM_001281.3
p.K38_C39Splc
c.114+1G>A
NM_001281.3
p.K40R
c.119A>G
NM_001281.3
p.D89G
c.266A>G
NM_001281.3
p.Y98F
c.293A>T
NM_001281.3
p.S110T
c.328T>A
NM_001281.3
p.R117W
c.349A>T
NM_001281.3
p.D119Splc
c.355+91G>C
NM_001281.3
p.R132W
c.394C>T
NM_001281.3
p.Y133H
c.397T>C