| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063946C>A | CA003221 | BRCA1 | c.5077G>T (p.Glu1693Ter) c.5080G>T (p.Glu1694Ter) c.4954G>T (p.Glu1652Ter) c.5074G>T (p.Glu1692Ter) c.5002G>T (p.Glu1668Ter) c.1768G>T (p.Glu590Ter) c.1630G>T (p.Glu544Ter) c.4192G>T (p.Glu1398Ter) c.4957G>T (p.Glu1653Ter) c.5146G>T (p.Glu1716Ter) c.4939G>T (p.Glu1647Ter) c.1642G>T (p.Glu548Ter) c.5143G>T (p.Glu1715Ter) c.1467G>T c.1654G>T (p.Glu552Ter) c.*4863G>T (n.*4863G>T) c.1393G>T (p.Glu465Ter) c.10G>T (p.Glu4Ter) c.553G>T (p.Glu185Ter) c.-98-13756G>T (n.-98-13756G>T) n.5216G>T n.5257G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43063946C>G | CA10591363 | BRCA1 | c.5077G>C (p.Glu1693Gln) c.5080G>C (p.Glu1694Gln) c.4954G>C (p.Glu1652Gln) c.5074G>C (p.Glu1692Gln) c.5002G>C (p.Glu1668Gln) c.1768G>C (p.Glu590Gln) c.1630G>C (p.Glu544Gln) c.4192G>C (p.Glu1398Gln) c.4957G>C (p.Glu1653Gln) c.5146G>C (p.Glu1716Gln) c.4939G>C (p.Glu1647Gln) c.1642G>C (p.Glu548Gln) c.5143G>C (p.Glu1715Gln) c.1467G>C c.1654G>C (p.Glu552Gln) c.*4863G>C (n.*4863G>C) c.1393G>C (p.Glu465Gln) c.10G>C (p.Glu4Gln) c.553G>C (p.Glu185Gln) c.-98-13756G>C (n.-98-13756G>C) n.5216G>C n.5257G>C | ClinVar dbSNP |
| 17 | g.43063946C>T | CA10591364 | BRCA1 | c.5077G>A (p.Glu1693Lys) c.5080G>A (p.Glu1694Lys) c.4954G>A (p.Glu1652Lys) c.5074G>A (p.Glu1692Lys) c.5002G>A (p.Glu1668Lys) c.1768G>A (p.Glu590Lys) c.1630G>A (p.Glu544Lys) c.4192G>A (p.Glu1398Lys) c.4957G>A (p.Glu1653Lys) c.5146G>A (p.Glu1716Lys) c.4939G>A (p.Glu1647Lys) c.1642G>A (p.Glu548Lys) c.5143G>A (p.Glu1715Lys) c.1467G>A c.1654G>A (p.Glu552Lys) c.*4863G>A (n.*4863G>A) c.1393G>A (p.Glu465Lys) c.10G>A (p.Glu4Lys) c.553G>A (p.Glu185Lys) c.-98-13756G>A (n.-98-13756G>A) n.5216G>A n.5257G>A | ClinVar dbSNP |