Papers
RefSeq ID
Protein change
DNA change
1–12 of 154 variants
NM_001130158.3
p.N454D
c.1360A>G
NM_001130158.3
p.R194W
c.580C>T
NM_001130158.3
p.K7T
c.20A>C
NM_001130158.3
p.M20K
c.59T>A
NM_001130158.3
p.I32V
c.94A>G
NM_001130158.3
p.R38H
c.113G>A
NM_001130158.3
p.T46T
c.138A>T
NM_001130158.3
p.N74D
c.220A>G
NM_001130158.3
p.R75*
c.223A>T
NM_001130158.3
p.H83Y
c.247C>T
NM_001130158.3
p.L87V
c.259C>G
NM_001130158.3
p.D97fs
c.289_290fs