Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_001033566.3
p.R272Q
c.815G>A
NM_001033566.3
p.T351A
c.1051A>G
NM_001033566.3
p.R450C
c.1348C>T
NM_001033566.3
p.V84I
c.250G>A
NM_001033566.3
p.S156A
c.466T>G
NM_001033566.3
p.P30L
c.89C>T
NM_001033566.3
p.E285K
c.853G>A
NM_001033568.3
p.T610A
c.1828A>G
NM_001033568.3
p.K689K
c.2067A>G
NM_001033566.3
p.L8delFs
c.22delC
NM_001033566.3
p.E28G
c.83A>G
NM_001033566.3
p.E32_V33Splc
c.97-1G>C