| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32436347C>T | CA236150 | ASXL1 | c.3635C>T (p.Ser1212Phe) c.3452C>T (p.Ser1151Phe) n.5988C>T c.1869+1766C>T (n.1869+1766C>T) c.3620C>T (p.Ser1207Phe) c.3632C>T (p.Ser1211Phe) c.3605C>T (p.Ser1202Phe) c.3551C>T (p.Ser1184Phe) c.2951C>T (p.Ser984Phe) c.3899C>T (p.Ser1300Phe) c.3896C>T (p.Ser1299Phe) c.3815C>T (p.Ser1272Phe) c.3746C>T (p.Ser1249Phe) c.3614C>T (p.Ser1205Phe) c.3482C>T (p.Ser1161Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.32436347C= | CA2360293658 | ASXL1 | c.3635C= (p.Ser1212=) c.3452C= (p.Ser1151=) n.5988C= c.1869+1766C= (n.1869+1766C=) c.3620C= (p.Ser1207=) c.3632C= (p.Ser1211=) c.3605C= (p.Ser1202=) c.3551C= (p.Ser1184=) c.2951C= (p.Ser984=) c.3899C= (p.Ser1300=) c.3896C= (p.Ser1299=) c.3815C= (p.Ser1272=) c.3746C= (p.Ser1249=) c.3614C= (p.Ser1205=) c.3482C= (p.Ser1161=) | dbSNP |
| 20 | g.32436347C>G | CA408563478 | ASXL1 | c.3635C>G (p.Ser1212Cys) c.3452C>G (p.Ser1151Cys) n.5988C>G c.1869+1766C>G (n.1869+1766C>G) c.3620C>G (p.Ser1207Cys) c.3632C>G (p.Ser1211Cys) c.3605C>G (p.Ser1202Cys) c.3551C>G (p.Ser1184Cys) c.2951C>G (p.Ser984Cys) c.3899C>G (p.Ser1300Cys) c.3896C>G (p.Ser1299Cys) c.3815C>G (p.Ser1272Cys) c.3746C>G (p.Ser1249Cys) c.3614C>G (p.Ser1205Cys) c.3482C>G (p.Ser1161Cys) | ClinVar dbSNP gnomAD v4 |