| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049192del | CA003507 | BRCA1 | c.5332del (p.Gln1778AsnfsTer14) c.5335del (p.Gln1779AsnfsTer14) c.5209del (p.Gln1737AsnfsTer14) c.5329del (p.Gln1777AsnfsTer14) c.5257del (p.Gln1753AsnfsTer14) c.2023del (p.Gln675AsnfsTer14) c.1885del (p.Gln629AsnfsTer14) c.4447del (p.Gln1483AsnfsTer14) c.5212del (p.Gln1738AsnfsTer14) c.5401del (p.Gln1801AsnfsTer14) c.5194del (p.Gln1732AsnfsTer14) c.1897del (p.Gln633AsnfsTer14) n.1218del c.5398del (p.Gln1800AsnfsTer14) c.1722del c.1909del (p.Gln637AsnfsTer14) c.*5118del (n.*5118del) c.2021-1489del (n.2021-1489del) c.265del (p.Gln89AsnfsTer14) c.808del (p.Gln270AsnfsTer14) c.34del (p.Gln12AsnfsTer14) n.5471del n.5512del | ClinVar dbSNP ExAC |
| 17 | g.43049192G= | CA2260762797 | BRCA1 | c.5332C= (p.Gln1778=) c.5335C= (p.Gln1779=) c.5209C= (p.Gln1737=) c.5329C= (p.Gln1777=) c.5257C= (p.Gln1753=) c.2023C= (p.Gln675=) c.1885C= (p.Gln629=) c.4447C= (p.Gln1483=) c.5212C= (p.Gln1738=) c.5401C= (p.Gln1801=) c.5194C= (p.Gln1732=) c.1897C= (p.Gln633=) n.1218C= c.5398C= (p.Gln1800=) c.1722C= c.1909C= (p.Gln637=) c.*5118C= (n.*5118C=) c.2021-1489C= (n.2021-1489C=) c.265C= (p.Gln89=) c.808C= (p.Gln270=) c.34C= (p.Gln12=) n.5471C= n.5512C= | dbSNP dbSNP |