| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067684G>A | CA003147 | BRCA1 | c.4995C>T (p.Tyr1665=) c.4998C>T (p.Tyr1666=) c.4872C>T (p.Tyr1624=) c.4992C>T (p.Tyr1664=) c.4920C>T (p.Tyr1640=) c.1686C>T (p.Tyr562=) c.1548C>T (p.Tyr516=) c.4110C>T (p.Tyr1370=) c.4875C>T (p.Tyr1625=) c.5064C>T (p.Tyr1688=) c.4857C>T (p.Tyr1619=) c.1560C>T (p.Tyr520=) c.5061C>T (p.Tyr1687=) c.1385C>T c.1572C>T (p.Tyr524=) c.*4781C>T (n.*4781C>T) n.151C>T c.1311C>T (p.Tyr437=) c.5-3733C>T (n.5-3733C>T) c.471C>T (p.Tyr157=) c.-98-17494C>T (n.-98-17494C>T) n.5134C>T n.5175C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43067684G>C | CA10591524 | BRCA1 | c.4995C>G (p.Tyr1665Ter) c.4998C>G (p.Tyr1666Ter) c.4872C>G (p.Tyr1624Ter) c.4992C>G (p.Tyr1664Ter) c.4920C>G (p.Tyr1640Ter) c.1686C>G (p.Tyr562Ter) c.1548C>G (p.Tyr516Ter) c.4110C>G (p.Tyr1370Ter) c.4875C>G (p.Tyr1625Ter) c.5064C>G (p.Tyr1688Ter) c.4857C>G (p.Tyr1619Ter) c.1560C>G (p.Tyr520Ter) c.5061C>G (p.Tyr1687Ter) c.1385C>G c.1572C>G (p.Tyr524Ter) c.*4781C>G (n.*4781C>G) n.151C>G c.1311C>G (p.Tyr437Ter) c.5-3733C>G (n.5-3733C>G) c.471C>G (p.Tyr157Ter) c.-98-17494C>G (n.-98-17494C>G) n.5134C>G n.5175C>G | ClinVar dbSNP |
| 17 | g.43067684G>T | CA003146 | BRCA1 | c.4995C>A (p.Tyr1665Ter) c.4998C>A (p.Tyr1666Ter) c.4872C>A (p.Tyr1624Ter) c.4992C>A (p.Tyr1664Ter) c.4920C>A (p.Tyr1640Ter) c.1686C>A (p.Tyr562Ter) c.1548C>A (p.Tyr516Ter) c.4110C>A (p.Tyr1370Ter) c.4875C>A (p.Tyr1625Ter) c.5064C>A (p.Tyr1688Ter) c.4857C>A (p.Tyr1619Ter) c.1560C>A (p.Tyr520Ter) c.5061C>A (p.Tyr1687Ter) c.1385C>A c.1572C>A (p.Tyr524Ter) c.*4781C>A (n.*4781C>A) n.151C>A c.1311C>A (p.Tyr437Ter) c.5-3733C>A (n.5-3733C>A) c.471C>A (p.Tyr157Ter) c.-98-17494C>A (n.-98-17494C>A) n.5134C>A n.5175C>A | ClinVar dbSNP |
| 17 | g.43067684G= | CA2260771403 | BRCA1 | c.4995C= (p.Tyr1665=) c.4998C= (p.Tyr1666=) c.4872C= (p.Tyr1624=) c.4992C= (p.Tyr1664=) c.4920C= (p.Tyr1640=) c.1686C= (p.Tyr562=) c.1548C= (p.Tyr516=) c.4110C= (p.Tyr1370=) c.4875C= (p.Tyr1625=) c.5064C= (p.Tyr1688=) c.4857C= (p.Tyr1619=) c.1560C= (p.Tyr520=) c.5061C= (p.Tyr1687=) c.1385C= c.1572C= (p.Tyr524=) c.*4781C= (n.*4781C=) n.151C= c.1311C= (p.Tyr437=) c.5-3733C= (n.5-3733C=) c.471C= (p.Tyr157=) c.-98-17494C= (n.-98-17494C=) n.5134C= n.5175C= | dbSNP |