Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_002401.5
p.I441M
c.1323C>G
NM_002401.5
p.K391M
c.1172A>T
NM_002401.5
p.S526A
c.1576T>G
NM_002401.5
p.E542K
c.1624G>A
NM_002401.5
p.R24Q
c.71G>A
NM_002401.5
p.K32del1
c.94_95delAAG
NM_002401.5
p.Q42_S43Splc
c.126+4T>C
NM_002401.5
p.P172P
c.516T>A
NM_002401.5
p.V281M
c.841G>A
NM_002401.5
p.E387D
c.1161A>C
NM_002401.5
p.E387D
c.1161A>T
NM_002401.5
p.T516A
c.1546A>G