Papers
RefSeq ID
Protein change
DNA change
1–12 of 122 variants
NM_001031685.3
p.R461C
c.1381C>T
NM_001031685.3
p.A189V
c.566C>T
NM_001031685.3
p.H924Y
c.2770C>T
NM_001031685.3
p.R1107C
c.3319C>T
NM_001031685.3
p.R90C
c.268C>T
NM_001031685.3
p.R90H
c.269G>A
NM_001031685.3
p.P92fs
c.274_275fs
NM_001031685.3
p.Q229K
c.685C>A
NM_001031685.3
p.E285K
c.853G>A
NM_001031685.3
p.M307V
c.919A>G
NM_001031685.3
p.P332S
c.994C>T
NM_001031685.3
p.Q634H
c.1902G>T