| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32435795C>A | CA129591 | ASXL1 | c.3083C>A (p.Ser1028Ter) c.2900C>A (p.Ser967Ter) n.5436C>A c.1869+1214C>A (n.1869+1214C>A) c.3068C>A (p.Ser1023Ter) c.3080C>A (p.Ser1027Ter) c.3053C>A (p.Ser1018Ter) c.2999C>A (p.Ser1000Ter) c.2399C>A (p.Ser800Ter) c.3347C>A (p.Ser1116Ter) c.3344C>A (p.Ser1115Ter) c.3263C>A (p.Ser1088Ter) c.3194C>A (p.Ser1065Ter) c.3062C>A (p.Ser1021Ter) c.2930C>A (p.Ser977Ter) | ClinVar dbSNP gnomAD v4 |
| 20 | g.32435795C>G | CA408562312 | ASXL1 | c.3083C>G (p.Ser1028Trp) c.2900C>G (p.Ser967Trp) n.5436C>G c.1869+1214C>G (n.1869+1214C>G) c.3068C>G (p.Ser1023Trp) c.3080C>G (p.Ser1027Trp) c.3053C>G (p.Ser1018Trp) c.2999C>G (p.Ser1000Trp) c.2399C>G (p.Ser800Trp) c.3347C>G (p.Ser1116Trp) c.3344C>G (p.Ser1115Trp) c.3263C>G (p.Ser1088Trp) c.3194C>G (p.Ser1065Trp) c.3062C>G (p.Ser1021Trp) c.2930C>G (p.Ser977Trp) | dbSNP |
| 20 | g.32435795C>T | CA156999 | ASXL1 | c.3083C>T (p.Ser1028Leu) c.2900C>T (p.Ser967Leu) n.5436C>T c.1869+1214C>T (n.1869+1214C>T) c.3068C>T (p.Ser1023Leu) c.3080C>T (p.Ser1027Leu) c.3053C>T (p.Ser1018Leu) c.2999C>T (p.Ser1000Leu) c.2399C>T (p.Ser800Leu) c.3347C>T (p.Ser1116Leu) c.3344C>T (p.Ser1115Leu) c.3263C>T (p.Ser1088Leu) c.3194C>T (p.Ser1065Leu) c.3062C>T (p.Ser1021Leu) c.2930C>T (p.Ser977Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |