Papers
RefSeq ID
Protein change
DNA change
1–12 of 407 variants
NM_152419.3
p.A615T
c.1843G>A
NM_152419.3
p.H78_C79Splc
c.234+1G>A
NM_152419.3
p.R344C
c.1030C>T
NM_152419.3
p.R384*
c.1150C>T
NM_152419.3
p.S518F
c.1553C>T
NM_152419.3
p.P165Splc
c.493+1G>A
NM_152419.3
p.S541L
c.1622C>T
NM_152419.3
p.E471K
c.1411G>A
NM_152419.3
p.P283L
c.848C>T
NM_152419.3
p.R124Splc
c.372-2A>G
NM_152419.3
p.G262R
c.784G>A
NM_152419.3
p.G262R
c.784G>C