Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
NM_014911.5
p.N181delFs
c.541_542delTT
NM_014911.5
p.K509Q
c.1525A>C
NM_014911.5
p.Q541_Q542del2
c.1621_1625del6
NM_014911.5
p.Q541_Q542del1
c.1623_1625delTGT
NM_014911.5
p.P771R
c.2312C>G
NM_014911.5
p.V603A
c.1808T>C
NM_014911.5
p.G105G
c.315T>A
NM_014911.5
p.D176A
c.527A>C
NM_014911.5
p.S311P
c.931T>C
NM_014911.5
p.R391Q
c.1172G>A
NM_014911.5
p.A481P
c.1441G>C
NM_014911.5
p.A511G
c.1532C>G