Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_005837.3
p.V108A
c.323T>C
NM_005837.3
p.M1delFs
c.2delT
NM_005837.3
p.P27S
c.79C>T
NM_005837.3
p.R29L
c.86G>T
NM_005837.3
p.R33K
c.98G>A
NM_005837.3
p.F45C
c.134T>G
NM_005837.3
p.L49L
c.147G>C
NM_005837.3
p.R51C
c.151C>T
NM_005837.3
p.K54*
c.160A>T
NM_005837.3
p.N64delFs
c.191delA
NM_005837.3
p.A65T
c.193G>A
NM_005837.3
p.S95ins1
c.283_284insTGG