Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001276713.2
p.W480*
c.1439G>A
NM_001276713.2
p.W480*
c.1440G>A
NM_001276713.2
p.L87V
c.259C>G
NM_001276713.2
p.V292A
c.875T>C
NM_001276713.2
p.R102L
c.305G>T
NM_001276713.2
p.S169N
c.506G>A
NM_001276713.2
p.H245R
c.734A>G
NM_001276713.2
p.W463*
c.1388G>A
NM_001276713.2
p.W463*
c.1389G>A
NM_001276713.2
p.R470H
c.1409G>A
NM_001276713.2
p.G15E
c.44G>A
NM_001276713.2
p.I94fs
c.280_281fs