Papers
RefSeq ID
Protein change
DNA change
1–12 of 215 variants
NM_019589.3
p.A187A
c.561T>C
NM_019589.3
p.P254insFs
c.761_762insC
NM_019589.3
p.Q291del1
c.871_872delCAG
NM_019589.3
p.R831*
c.2491C>T
NM_019589.3
p.R1646*
c.4936C>T
NM_019589.3
p.E1654*
c.4960G>T
NM_019589.3
p.D1821N
c.5461G>A
NM_019589.3
p.Y8_G9insFs
c.24_25insT
NM_019589.3
p.G9fs
c.25_26fs
NM_019589.3
p.G10delFs
c.28delG
NM_019589.3
p.G10E
c.29G>A
NM_019589.3
p.S11G
c.31A>G