Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_022451.11
p.A695T
c.2083G>A
NM_022451.11
p.F791S
c.2372T>C
NM_022451.11
p.P444R
c.1331C>G
NM_022451.11
p.E472A
c.1415A>C
NM_022451.11
p.R473*
c.1417C>T
NM_022451.11
p.N232I
c.695A>T
NM_022451.11
p.R276fs
c.826_827fs
NM_022451.11
p.L324delFs
c.971delA
NM_022451.11
p.H800R
c.2399A>G
NM_022451.11
p.K27M
c.80A>T
NM_022451.11
p.R43Q
c.128G>A
NM_022451.11
p.E45G
c.134A>G