Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_021963.4
p.E221del1
c.661_662delCTC
NM_021963.4
p.K74delFs
c.221_222delTT
NM_021963.4
p.E221_D222del2
c.661_665del6
NM_021963.4
p.R353Q
c.1058G>A
NM_021963.4
p.D364Y
c.1090G>T
NM_021963.4
p.E5Q
c.13G>C
NM_021963.4
p.R7L
c.20G>T
NM_021963.4
p.E17G
c.50A>G
NM_021963.4
p.A18T
c.52G>A
NM_021963.4
p.L27delFs
c.79_80delAG
NM_021963.4
p.R33H
c.98G>A
NM_021963.4
p.R33R
c.99C>T