Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_016337.3
p.P249L
c.746C>T
NM_016337.3
p.M1T
c.2T>C
NM_016337.3
p.R12Q
c.35G>A
NM_016337.3
p.P185fs
c.553_554fs
NM_016337.3
p.P190fs
c.568_569fs
NM_016337.3
p.C9W
c.27C>G
NM_016337.3
p.V17I
c.49G>A
NM_016337.3
p.D19N
c.55G>A
NM_016337.3
p.V62delFs
c.185_186delTG
NM_016337.3
p.Q82K
c.244C>A
NM_016337.3
p.T102M
c.305C>T
NM_016337.3
p.L111L
c.331C>T