| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32435701G>C | CA236147 | ASXL1 | c.2989G>C (p.Glu997Gln) c.2806G>C (p.Glu936Gln) n.5342G>C c.1869+1120G>C (n.1869+1120G>C) c.2974G>C (p.Glu992Gln) c.2986G>C (p.Glu996Gln) c.2959G>C (p.Glu987Gln) c.2905G>C (p.Glu969Gln) c.2305G>C (p.Glu769Gln) c.3253G>C (p.Glu1085Gln) c.3250G>C (p.Glu1084Gln) c.3169G>C (p.Glu1057Gln) c.3100G>C (p.Glu1034Gln) c.2968G>C (p.Glu990Gln) c.2836G>C (p.Glu946Gln) | ClinVar dbSNP |
| 20 | g.32435701G>A | CA408561772 | ASXL1 | c.2989G>A (p.Glu997Lys) c.2806G>A (p.Glu936Lys) n.5342G>A c.1869+1120G>A (n.1869+1120G>A) c.2974G>A (p.Glu992Lys) c.2986G>A (p.Glu996Lys) c.2959G>A (p.Glu987Lys) c.2905G>A (p.Glu969Lys) c.2305G>A (p.Glu769Lys) c.3253G>A (p.Glu1085Lys) c.3250G>A (p.Glu1084Lys) c.3169G>A (p.Glu1057Lys) c.3100G>A (p.Glu1034Lys) c.2968G>A (p.Glu990Lys) c.2836G>A (p.Glu946Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.32435701G>T | CA408561771 | ASXL1 | c.2989G>T (p.Glu997Ter) c.2806G>T (p.Glu936Ter) n.5342G>T c.1869+1120G>T (n.1869+1120G>T) c.2974G>T (p.Glu992Ter) c.2986G>T (p.Glu996Ter) c.2959G>T (p.Glu987Ter) c.2905G>T (p.Glu969Ter) c.2305G>T (p.Glu769Ter) c.3253G>T (p.Glu1085Ter) c.3250G>T (p.Glu1084Ter) c.3169G>T (p.Glu1057Ter) c.3100G>T (p.Glu1034Ter) c.2968G>T (p.Glu990Ter) c.2836G>T (p.Glu946Ter) | dbSNP gnomAD v4 COSMIC |