Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_006346.4
p.R405Q
c.1214G>A
NM_006346.4
p.Y503C
c.1508A>G
NM_006346.4
p.I167V
c.499A>G
NM_006346.4
p.L557fs
c.1669_1670fs
NM_006346.4
p.D637A
c.1910A>C
NM_006346.4
p.R299Q
c.896G>A
NM_006346.4
p.Q394_L395ins12
c.1180_1184ins36
NM_006346.4
p.Q485*
c.1453C>T
NM_006346.4
p.L557delFs
c.1669delC
NM_006346.4
p.L598R
c.1793T>G
NM_006346.4
p.I630V
c.1888A>G
NM_006346.4
p.H713P
c.2138A>C