Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_001102401.4
p.I436N
c.1307T>A
NM_001102401.4
p.P367L
c.1100C>T
NM_001102401.4
p.R359C
c.1075C>T
NM_001102401.4
p.D317V
c.950A>T
NM_001102401.4
p.E63G
c.188A>G
NM_001102401.4
p.L180P
c.539T>C
NM_001102401.4
p.L192P
c.575T>C
NM_001102401.4
p.G194A
c.581G>C
NM_001102401.4
p.C314_L315Fs
c.942_944delinsCTGTGCTTCCATTCCTTCCTCCTAGFs
NM_001102401.4
p.R334Q
c.1001G>A
NM_001102401.4
p.R344Q
c.1031G>A
NM_001102401.4
p.L7P
c.20T>C