Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_001002036.4
p.Q222R
c.665A>G
NM_001002036.4
p.G152Splc
c.456-1G>A
NM_001002036.4
p.R159H
c.476G>A
NM_001002036.4
p.R274W
c.820C>T
NM_001002036.4
p.F84fs
c.250_251fs
NM_001002036.4
p.R117C
c.349C>T
NM_001002036.4
p.L184H
c.551T>A
NM_001002036.4
p.H186L
c.557A>T
NM_001002036.4
p.K277Q
c.829A>C
NM_001002036.4
p.T36fs
c.106_107fs
NM_001002036.4
p.F84_R85delFs
c.250_253del4
NM_001002036.4
p.C153fs
c.457_458fs