Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_016848.6
p.S224N
c.671G>A
NM_016848.6
p.E497K
c.1489G>A
NM_016848.6
p.R38H
c.113G>A
NM_016848.6
p.S79L
c.236C>T
NM_016848.6
p.S79S
c.237G>C
NM_016848.6
p.A92V
c.275C>T
NM_016848.6
p.A123V
c.368C>T
NM_016848.6
p.R125K
c.374G>A
NM_016848.6
p.S171Y
c.512C>A
NM_016848.6
p.T181T
c.543C>T
NM_016848.6
p.K215T
c.644A>C
NM_016848.6
p.A221T
c.661G>A