Papers
RefSeq ID
Protein change
DNA change
1–12 of 298 variants
NM_001142966.3
p.R751H
c.2252G>A
NM_001142966.3
p.W235C
c.705G>C
NM_001142966.3
p.W235C
c.705G>T
NM_001142966.3
p.R128H
c.383G>A
NM_001142966.3
p.R192L
c.575G>T
NM_001142966.3
p.Q528delFs
c.1582delC
NM_001142966.3
p.Q528fs
c.1582_1583fs
NM_001142966.3
p.E594*
c.1780G>T
NM_001142966.3
p.S605R
c.1813A>C
NM_001142966.3
p.S605R
c.1815T>A
NM_001142966.3
p.S605R
c.1815T>G
NM_001142966.3
p.R751C
c.2251C>T