Papers
RefSeq ID
Protein change
DNA change
1–12 of 195 variants
NM_000395.3
p.R461C
c.1381C>T
NM_000395.3
p.A455D
c.1364C>A
NM_000395.3
p.E249Q
c.745G>C
NM_000395.3
p.V449E
c.1346T>A
NM_000395.3
p.P603T
c.1807C>A
NM_000395.3
p.A185T
c.553G>A
NM_000395.3
p.S271L
c.812C>T
NM_000395.3
p.D312N
c.934G>A
NM_000395.3
p.G647V
c.1940G>T
NM_000395.3
p.V652M
c.1954G>A
NM_000395.3
p.P696S
c.2086C>T
NM_000395.3
p.S709fs
c.2125_2126fs