Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_016630.7
p.A108P
c.322G>C
NM_016630.7
p.T201insFs
c.601_602insA
NM_016630.7
p.R40*
c.118C>T
NM_016630.7
p.P51delFs
c.153delA
NM_016630.7
p.I163delFs
c.487delT
NM_016630.7
p.T201fs
c.601_602fs
NM_016630.7
p.I22V
c.64A>G
NM_016630.7
p.R40delFs
c.118delG
NM_016630.7
p.P51delFs
c.152_153delAG
NM_016630.7
p.V52fs
c.154_155fs
NM_016630.7
p.A75_L76Splc
c.226-1G>A
NM_016630.7
p.S109A
c.325T>G