Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_001355024.4
p.E4D
c.12G>C
NM_001355024.4
p.E4E
c.12G>A
NM_001355024.4
p.I63K
c.188T>A
NM_001355024.4
p.E66K
c.196G>A
NM_001355024.4
p.Y93delFs
c.277delA
NM_001355024.4
p.Y93fs
c.277_278fs
NM_001355024.4
p.D200Y
c.598G>T
NM_001355024.4
p.R247S
c.739C>A
NM_001355024.4
p.E330D
c.990A>T
NM_001355024.4
p.E330D
c.990A>C
NM_001286547.3
p.L321*
c.962T>A
NM_001355024.4
p.D347N
c.1039G>A