| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43071031A>C | CA10591762 | BRCA1 | c.4880T>G (p.Met1627Arg) c.4883T>G (p.Met1628Arg) c.4757T>G (p.Met1586Arg) c.4877T>G (p.Met1626Arg) c.4805T>G (p.Met1602Arg) c.1571T>G (p.Met524Arg) c.1433T>G (p.Met478Arg) c.3995T>G (p.Met1332Arg) c.4760T>G (p.Met1587Arg) c.4949T>G (p.Met1650Arg) c.4742T>G (p.Met1581Arg) c.1445T>G (p.Met482Arg) c.1490T>G (p.Met497Arg) c.4946T>G (p.Met1649Arg) c.1270T>G c.1457T>G (p.Met486Arg) c.*4666T>G (n.*4666T>G) n.36T>G c.1196T>G (p.Met399Arg) c.5-7080T>G (n.5-7080T>G) c.356T>G (p.Met119Arg) c.-98-20841T>G (n.-98-20841T>G) n.5019T>G n.5060T>G | dbSNP |
| 17 | g.43071031A>T | CA10591763 | BRCA1 | c.4880T>A (p.Met1627Lys) c.4883T>A (p.Met1628Lys) c.4757T>A (p.Met1586Lys) c.4877T>A (p.Met1626Lys) c.4805T>A (p.Met1602Lys) c.1571T>A (p.Met524Lys) c.1433T>A (p.Met478Lys) c.3995T>A (p.Met1332Lys) c.4760T>A (p.Met1587Lys) c.4949T>A (p.Met1650Lys) c.4742T>A (p.Met1581Lys) c.1445T>A (p.Met482Lys) c.1490T>A (p.Met497Lys) c.4946T>A (p.Met1649Lys) c.1270T>A c.1457T>A (p.Met486Lys) c.*4666T>A (n.*4666T>A) n.36T>A c.1196T>A (p.Met399Lys) c.5-7080T>A (n.5-7080T>A) c.356T>A (p.Met119Lys) c.-98-20841T>A (n.-98-20841T>A) n.5019T>A n.5060T>A | ClinVar dbSNP |
| 17 | g.43071031A>G | CA003062 | BRCA1 | c.4880T>C (p.Met1627Thr) c.4883T>C (p.Met1628Thr) c.4757T>C (p.Met1586Thr) c.4877T>C (p.Met1626Thr) c.4805T>C (p.Met1602Thr) c.1571T>C (p.Met524Thr) c.1433T>C (p.Met478Thr) c.3995T>C (p.Met1332Thr) c.4760T>C (p.Met1587Thr) c.4949T>C (p.Met1650Thr) c.4742T>C (p.Met1581Thr) c.1445T>C (p.Met482Thr) c.1490T>C (p.Met497Thr) c.4946T>C (p.Met1649Thr) c.1270T>C c.1457T>C (p.Met486Thr) c.*4666T>C (n.*4666T>C) n.36T>C c.1196T>C (p.Met399Thr) c.5-7080T>C (n.5-7080T>C) c.356T>C (p.Met119Thr) c.-98-20841T>C (n.-98-20841T>C) n.5019T>C n.5060T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43071031A= | CA2260772855 | BRCA1 | c.4880T= (p.Met1627=) c.4883T= (p.Met1628=) c.4757T= (p.Met1586=) c.4877T= (p.Met1626=) c.4805T= (p.Met1602=) c.1571T= (p.Met524=) c.1433T= (p.Met478=) c.3995T= (p.Met1332=) c.4760T= (p.Met1587=) c.4949T= (p.Met1650=) c.4742T= (p.Met1581=) c.1445T= (p.Met482=) c.1490T= (p.Met497=) c.4946T= (p.Met1649=) c.1270T= c.1457T= (p.Met486=) c.*4666T= (n.*4666T=) n.36T= c.1196T= (p.Met399=) c.5-7080T= (n.5-7080T=) c.356T= (p.Met119=) c.-98-20841T= (n.-98-20841T=) n.5019T= n.5060T= | dbSNP dbSNP |