Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_001009996.3
p.Q299R
c.896A>G
NM_001009996.3
p.Y417*
c.1251C>G
NM_001009996.3
p.Y417*
c.1251C>A
NM_001009996.3
p.V364I
c.1090G>A
NM_001009996.3
p.A2P
c.4G>C
NM_001009996.3
p.T11K
c.32C>A
NM_001009996.3
p.L12delFs
c.36delC
NM_001009996.3
p.P24R
c.71C>G
NM_001009996.3
p.T32T
c.96C>A
NM_001009996.3
p.P70H
c.209C>A
NM_001009996.3
p.L85P
c.254T>C
NM_001009996.3
p.V102M
c.304G>A