Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_001714.4
p.D760E
c.2280T>A
NM_001714.4
p.D760E
c.2280T>G
NM_001714.4
p.H201Q
c.603T>A
NM_001714.4
p.H201Q
c.603T>G
NM_001714.4
p.R370R
c.1110G>C
NM_001714.4
p.K438N
c.1314G>C
NM_001714.4
p.K438N
c.1314G>T
NM_001714.4
p.S499S
c.1497T>C
NM_001714.4
p.K774R
c.2321A>G
NM_001714.4
p.E16Q
c.46G>C
NM_001714.4
p.E88K
c.262G>A
NM_001714.4
p.Q96L
c.287A>T