Papers
RefSeq ID
Protein change
DNA change
1–12 of 199 variants
NM_001009999.3
p.D580G
c.1739A>G
NM_001009999.3
p.E403K
c.1207G>A
NM_001009999.3
p.Y785H
c.2353T>C
NM_001009999.3
p.G46S
c.136G>A
NM_001009999.3
p.K300M
c.899A>T
NM_001009999.3
p.R819*
c.2455C>T
NM_001009999.3
p.K117_V118Splc
c.352-1G>A
NM_001009999.3
p.G173Splc
c.517+1G>A
NM_001009999.3
p.D399G
c.1196A>G
NM_001009999.3
p.K480delFs
c.1440delA
NM_001009999.3
p.S541Splc
c.1623-1G>A
NM_001009999.3
p.H556R
c.1667A>G