Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_194285.3
p.K107del1
c.319_320delCTT
NM_194285.3
p.R301C
c.901C>T
NM_194285.3
p.G466R
c.1396G>C
NM_194285.3
p.I101V
c.301A>G
NM_194285.3
p.P196S
c.586C>T
NM_194285.3
p.R210Q
c.629G>A
NM_194285.3
p.N271S
c.812A>G
NM_194285.3
p.R399C
c.1195C>T
NM_194285.3
p.R447Q
c.1340G>A
NM_194285.3
p.K617R
c.1850A>G
NM_194285.3
p.R627*
c.1879C>T
NM_194285.3
p.L7V
c.19C>G