Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_001352248.3
p.V182A
c.545T>C
NM_001352248.3
p.S455S
c.1365C>T
NM_001352248.3
p.I527M
c.1581C>G
NM_001352248.3
p.Q12R
c.35A>G
NM_001352248.3
p.A30fs
c.88_89fs
NM_001352248.3
p.W45_S46Splc
c.135+24G>T
NM_001352248.3
p.V48V
c.144G>A
NM_001352248.3
p.V55L
c.163G>C
NM_001352248.3
p.W68*
c.203G>A
NM_001352248.3
p.W68*
c.204G>A
NM_001352248.3
p.S81C
c.241A>T
NM_001352248.3
p.H83L
c.248A>T