Papers
RefSeq ID
Protein change
DNA change
1–12 of 489 variants
NM_001433.5
p.S51A
c.151T>G
NM_001433.5
p.S24G
c.70A>G
NM_001433.5
p.Q137*
c.409C>T
NM_001433.5
p.Q220*
c.658C>T
NM_001433.5
p.E70*
c.208G>T
NM_001433.5
p.G157R
c.469G>A
NM_001433.5
p.R4R
c.12G>C
NM_001433.5
p.R4R
c.12G>A
NM_001433.5
p.S769F
c.2306C>T
NM_001433.5
p.P2S
c.4C>T
NM_001433.5
p.L10del1
c.28_29delCAG
NM_001433.5
p.E102Q
c.304G>C