Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_001040616.3
p.E313K
c.937G>A
NM_001040616.3
p.H329_V330delFs
c.985_988del4
NM_001040616.3
p.E366*
c.1096G>T
NM_001040616.3
p.Q368*
c.1102C>T
NM_001040616.3
p.L393*
c.1178T>G
NM_001040616.3
p.Q92*
c.274C>T
NM_001040616.3
p.D241fs
c.721_722fs
NM_001040616.3
p.H329fs
c.985_986fs
NM_001040616.3
p.G558_V560delFs
c.1672_1679del8
NM_001040616.3
p.D241delFs
c.722delT
NM_001040616.3
p.L393*
c.1178T>A
NM_001040616.3
p.G558fs
c.1672_1673fs