Papers
RefSeq ID
Protein change
DNA change
1–12 of 222 variants
NM_004284.6
p.D723A
c.2168A>C
NM_004284.6
p.R25P
c.74G>C
NM_004284.6
p.E175Q
c.523G>C
NM_004284.6
p.K462Splc
c.1386-2A>G
NM_004284.6
p.I765M
c.2295A>G
NM_004284.6
p.K77R
c.230A>G
NM_004284.6
p.H350Q
c.1050C>G
NM_004284.6
p.I517M
c.1551A>G
NM_004284.6
p.E604*
c.1810G>T
NM_004284.6
p.R643delFs
c.1929delA
NM_004284.6
p.G700R
c.2098G>A
NM_004284.6
p.G700R
c.2098G>C