Papers
RefSeq ID
Protein change
DNA change
1–12 of 254 variants
NM_001385.3
p.Q334R
c.1001A>G
NM_001385.3
p.W360R
c.1078T>A
NM_001385.3
p.R490C
c.1468C>T
NM_001385.3
p.R302Q
c.905G>A
NM_001385.3
p.W360R
c.1078T>C
NM_001385.3
p.G435R
c.1303G>A
NM_001385.3
p.R465*
c.1393C>T
NM_001385.3
p.G278D
c.833G>A
NM_001385.3
p.R412R
c.1236G>A
NM_001385.3
p.R181W
c.541C>T
NM_001385.3
p.R490H
c.1469G>A
NM_001385.3
p.K88_A89Splc
c.265-58T>C