| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.99175513A>C | CA10586691 | BCL11B | c.1323T>G (p.Asn441Lys) c.1110T>G (p.Asn370Lys) c.741T>G (p.Asn247Lys) c.1320T>G (p.Asn440Lys) c.1107T>G (p.Asn369Lys) c.1185T>G (p.Asn395Lys) | ClinVar dbSNP |
| 14 | g.99175513A>G | CA7339687 | BCL11B | c.1323T>C (p.Asn441=) c.1110T>C (p.Asn370=) c.741T>C (p.Asn247=) c.1320T>C (p.Asn440=) c.1107T>C (p.Asn369=) c.1185T>C (p.Asn395=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.99175513A= | CA2158268431 | BCL11B | c.1323T= (p.Asn441=) c.1110T= (p.Asn370=) c.741T= (p.Asn247=) c.1320T= (p.Asn440=) c.1107T= (p.Asn369=) c.1185T= (p.Asn395=) | dbSNP |