Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_016172.3
p.E269_A270del1
c.806_808delCCT
NM_016172.3
p.L90delFs
c.269_270delTA
NM_016172.3
p.E269_A270del2
c.805_809del6
NM_016172.3
p.H49Y
c.145C>T
NM_016172.3
p.E276K
c.826G>A
NM_016172.3
p.R404C
c.1210C>T
NM_016172.3
p.V13V
c.39G>A
NM_016172.3
p.A30Fs
c.89delinsGCFs
NM_016172.3
p.H49R
c.146A>G
NM_016172.3
p.D54A
c.161A>C
NM_016172.3
p.I58V
c.172A>G
NM_016172.3
p.T59I
c.176C>T