Variant Information

Gene Coordinates (GRCh37) Coordinates (GRCh38) Nucleotide Protein Interpretation
ASXL1 chr20:31021211 chr20:32433408 c.1210C>T p.Arg404Ter Pathogenic
ASXL1 chr20:31021250 chr20:32433447 c.1249C>T p.R417* Pathogenic
ASXL1 chr20:31022286 chr20:32434483 c.1772dupA p.Y591* Pathogenic
ASXL1 chr20:31022288 chr20:32434485 c.1773C>A p.Y591* Pathogenic
ASXL1 chr20:31022402 chr20:32434599 c.1900_1922delAGAGAGGCGGCCACCACTGCCAT p.E635Rfs*15 Pathogenic
ASXL1 chr20:31022440 chr20:32434637 c.1926delA p.G645Vfs*58 Pathogenic
ASXL1 chr20:31022441 chr20:32434638 c.1934delG p.G645Vfs*58 Pathogenic
ASXL1 chr20:31022592 chr20:32434789 c.2077C>T p.R693* Pathogenic
ASXL1 chr20:31022598 chr20:32434795 c.2085_2086insAA p.L696Nfs*8 Pathogenic
ASXL1 chr20:31022614 chr20:32434811 c.2100_2121delTCCTCTAAATGGGGAGCATACC p.P701Rfs*17 Pathogenic
ASXL1 chr20:31022800 chr20:32434997 c.2286delG p.L762Ffs*10 Pathogenic
ASXL1 chr20:31022824 chr20:32435021 c.2309C>G p.S770* Pathogenic
ASXL1 chr20:31022839 chr20:32435036 c.2324T>G p.L775* Pathogenic
ASXL1 chr20:31022847 chr20:32435044 c.2332C>T p.Q778* Pathogenic
ASXL1 chr20:31022853 chr20:32435050 c.2338C>T p.Q780* Pathogenic
ASXL1 chr20:31022922 chr20:32435119 c.2407C>T p.Q803* Pathogenic
ASXL1 chr20:31022936 chr20:32435133 c.2423delC p.P808Lfs*10 Pathogenic
ASXL1 chr20:31022983 chr20:32435180 c.2468T>A p.L823* Pathogenic
ASXL1 chr20:31023000 chr20:32435197 c.2485C>T p.Q829* Pathogenic
ASXL1 chr20:31023159 chr20:32435356 c.2644C>T p.Q882* Pathogenic
ASXL1 chr20:31023288 chr20:32435485 c.2773C>T p.Q925* Pathogenic
ASXL1 chr20:31023408 chr20:32435605 c.2893C>T p.R965* Pathogenic