Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_030952.3
p.A516V
c.1547C>T
NM_030952.3
p.K81R
c.242A>G
NM_030952.3
p.Y138_Q145delins
c.412_433delinsG
NM_030952.3
p.T208A
c.622A>G
NM_030952.3
p.R378H
c.1133G>A
NM_030952.3
p.G522S
c.1564G>A
NM_030952.3
p.E2Q
c.4G>C
NM_030952.3
p.A7T
c.19G>A
NM_030952.3
p.R8delFs
c.22delG
NM_030952.3
p.E18V
c.53A>T
NM_030952.3
p.L19delFs
c.55delG
NM_030952.3
p.L19fs
c.55_56fs