Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_001004316.3
p.E273fs
c.817_818fs
NM_001004316.3
p.V58I
c.172G>A
NM_001004316.3
p.R60C
c.178C>T
NM_001004316.3
p.R88Splc
c.264-32103C>G
NM_001004316.3
p.S124P
c.370T>C
NM_001004316.3
p.W166*
c.497G>A
NM_001004316.3
p.W166*
c.498G>A
NM_001004316.3
p.S181R
c.541A>C
NM_001004316.3
p.S181R
c.543T>A
NM_001004316.3
p.S181R
c.543T>G
NM_001004316.3
p.K202K
c.606A>G
NM_001004316.3
p.I220V
c.658A>G