Papers
RefSeq ID
Protein change
DNA change
1–12 of 1051 variants
NM_000062.3
p.R466C
c.1396C>T
NM_000062.3
p.G184R
c.550G>A
NM_000062.3
p.V480M
c.1438G>A
NM_000062.3
p.R466H
c.1397G>A
NM_000062.3
p.R494*
c.1480C>T
NM_000062.3
p.G184R
c.550G>C
NM_000062.3
p.K298_F303ins2
c.892_909dup18
NM_000062.3
p.K343_V344Splc
c.1029+384A>G
NM_000062.3
p.K343_V344Splc
c.1030-20A>G
NM_000062.3
p.G17_D18Splc
c.51+3A>G
NM_000062.3
p.V473M
c.1417G>A
NM_000062.3
p.M1V
c.1A>G