| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063903G>C | CA10591290 | BRCA1 | c.5120C>G (p.Ala1707Gly) c.5123C>G (p.Ala1708Gly) c.4997C>G (p.Ala1666Gly) c.5117C>G (p.Ala1706Gly) c.5045C>G (p.Ala1682Gly) c.1811C>G (p.Ala604Gly) c.1673C>G (p.Ala558Gly) c.4235C>G (p.Ala1412Gly) c.5000C>G (p.Ala1667Gly) c.5189C>G (p.Ala1730Gly) c.4982C>G (p.Ala1661Gly) c.1685C>G (p.Ala562Gly) c.5186C>G (p.Ala1729Gly) c.1510C>G c.1697C>G (p.Ala566Gly) c.*4906C>G (n.*4906C>G) c.1436C>G (p.Ala479Gly) c.53C>G (p.Ala18Gly) c.596C>G (p.Ala199Gly) c.-98-13713C>G (n.-98-13713C>G) n.5259C>G n.5300C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43063903G>T | CA003252 | BRCA1 | c.5120C>A (p.Ala1707Glu) c.5123C>A (p.Ala1708Glu) c.4997C>A (p.Ala1666Glu) c.5117C>A (p.Ala1706Glu) c.5045C>A (p.Ala1682Glu) c.1811C>A (p.Ala604Glu) c.1673C>A (p.Ala558Glu) c.4235C>A (p.Ala1412Glu) c.5000C>A (p.Ala1667Glu) c.5189C>A (p.Ala1730Glu) c.4982C>A (p.Ala1661Glu) c.1685C>A (p.Ala562Glu) c.5186C>A (p.Ala1729Glu) c.1510C>A c.1697C>A (p.Ala566Glu) c.*4906C>A (n.*4906C>A) c.1436C>A (p.Ala479Glu) c.53C>A (p.Ala18Glu) c.596C>A (p.Ala199Glu) c.-98-13713C>A (n.-98-13713C>A) n.5259C>A n.5300C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43063903G>A | CA003253 | BRCA1 | c.5120C>T (p.Ala1707Val) c.5123C>T (p.Ala1708Val) c.4997C>T (p.Ala1666Val) c.5117C>T (p.Ala1706Val) c.5045C>T (p.Ala1682Val) c.1811C>T (p.Ala604Val) c.1673C>T (p.Ala558Val) c.4235C>T (p.Ala1412Val) c.5000C>T (p.Ala1667Val) c.5189C>T (p.Ala1730Val) c.4982C>T (p.Ala1661Val) c.1685C>T (p.Ala562Val) c.5186C>T (p.Ala1729Val) c.1510C>T c.1697C>T (p.Ala566Val) c.*4906C>T (n.*4906C>T) c.1436C>T (p.Ala479Val) c.53C>T (p.Ala18Val) c.596C>T (p.Ala199Val) c.-98-13713C>T (n.-98-13713C>T) n.5259C>T n.5300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43063903G= | CA2260769525 | BRCA1 | c.5120C= (p.Ala1707=) c.5123C= (p.Ala1708=) c.4997C= (p.Ala1666=) c.5117C= (p.Ala1706=) c.5045C= (p.Ala1682=) c.1811C= (p.Ala604=) c.1673C= (p.Ala558=) c.4235C= (p.Ala1412=) c.5000C= (p.Ala1667=) c.5189C= (p.Ala1730=) c.4982C= (p.Ala1661=) c.1685C= (p.Ala562=) c.5186C= (p.Ala1729=) c.1510C= c.1697C= (p.Ala566=) c.*4906C= (n.*4906C=) c.1436C= (p.Ala479=) c.53C= (p.Ala18=) c.596C= (p.Ala199=) c.-98-13713C= (n.-98-13713C=) n.5259C= n.5300C= | dbSNP dbSNP |