Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001105247.2
p.E516*
c.1546G>T
Surrounding Variants
NM_001105247.2
p.E516insFs
c.1547_1548insC
NM_001105247.2
p.I515fs
c.1543_1544fs
NM_001105247.2
p.E517K
c.1549G>A
NM_001288767.2
p.A609_I610insFs
c.1827_1828dupCA
NM_001105247.2
p.G520delFs
c.1559delG
NM_001105247.2
p.G520fs
c.1558_1559fs
NM_001105247.2
p.P511L
c.1532C>T
NM_001105247.2
p.A514ins0
c.1540_1542dupGCC
NM_001105247.2
p.P511_L526delFs
c.1533_1576del44
NM_001105247.2
p.P524_P536del0
c.1572_1607del36
NM_001105247.2
p.P507L
c.1520C>T
NM_001105247.2
p.R505L
c.1514G>T