| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067608C>G | CA003202 | BRCA1 | c.5071G>C (p.Asp1691His) c.5074G>C (p.Asp1692His) c.4948G>C (p.Asp1650His) c.5068G>C (p.Asp1690His) c.4996G>C (p.Asp1666His) c.1762G>C (p.Asp588His) c.1624G>C (p.Asp542His) c.4186G>C (p.Asp1396His) c.4951G>C (p.Asp1651His) c.5140G>C (p.Asp1714His) c.4933G>C (p.Asp1645His) c.1636G>C (p.Asp546His) c.5137G>C (p.Asp1713His) c.1461G>C c.1648G>C (p.Asp550His) c.*4857G>C (n.*4857G>C) n.227G>C c.1387G>C (p.Asp463His) c.5-3657G>C (n.5-3657G>C) c.547G>C (p.Asp183His) c.-98-17418G>C (n.-98-17418G>C) n.5210G>C n.5251G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43067608C>A | CA003203 | BRCA1 | c.5071G>T (p.Asp1691Tyr) c.5074G>T (p.Asp1692Tyr) c.4948G>T (p.Asp1650Tyr) c.5068G>T (p.Asp1690Tyr) c.4996G>T (p.Asp1666Tyr) c.1762G>T (p.Asp588Tyr) c.1624G>T (p.Asp542Tyr) c.4186G>T (p.Asp1396Tyr) c.4951G>T (p.Asp1651Tyr) c.5140G>T (p.Asp1714Tyr) c.4933G>T (p.Asp1645Tyr) c.1636G>T (p.Asp546Tyr) c.5137G>T (p.Asp1713Tyr) c.1461G>T c.1648G>T (p.Asp550Tyr) c.*4857G>T (n.*4857G>T) n.227G>T c.1387G>T (p.Asp463Tyr) c.5-3657G>T (n.5-3657G>T) c.547G>T (p.Asp183Tyr) c.-98-17418G>T (n.-98-17418G>T) n.5210G>T n.5251G>T | ClinVar dbSNP |
| 17 | g.43067608C>T | CA003201 | BRCA1 | c.5071G>A (p.Asp1691Asn) c.5074G>A (p.Asp1692Asn) c.4948G>A (p.Asp1650Asn) c.5068G>A (p.Asp1690Asn) c.4996G>A (p.Asp1666Asn) c.1762G>A (p.Asp588Asn) c.1624G>A (p.Asp542Asn) c.4186G>A (p.Asp1396Asn) c.4951G>A (p.Asp1651Asn) c.5140G>A (p.Asp1714Asn) c.4933G>A (p.Asp1645Asn) c.1636G>A (p.Asp546Asn) c.5137G>A (p.Asp1713Asn) c.1461G>A c.1648G>A (p.Asp550Asn) c.*4857G>A (n.*4857G>A) n.227G>A c.1387G>A (p.Asp463Asn) c.5-3657G>A (n.5-3657G>A) c.547G>A (p.Asp183Asn) c.-98-17418G>A (n.-98-17418G>A) n.5210G>A n.5251G>A | ClinVar dbSNP |
| 17 | g.43067608C= | CA2260771309 | BRCA1 | c.5071G= (p.Asp1691=) c.5074G= (p.Asp1692=) c.4948G= (p.Asp1650=) c.5068G= (p.Asp1690=) c.4996G= (p.Asp1666=) c.1762G= (p.Asp588=) c.1624G= (p.Asp542=) c.4186G= (p.Asp1396=) c.4951G= (p.Asp1651=) c.5140G= (p.Asp1714=) c.4933G= (p.Asp1645=) c.1636G= (p.Asp546=) c.5137G= (p.Asp1713=) c.1461G= c.1648G= (p.Asp550=) c.*4857G= (n.*4857G=) n.227G= c.1387G= (p.Asp463=) c.5-3657G= (n.5-3657G=) c.547G= (p.Asp183=) c.-98-17418G= (n.-98-17418G=) n.5210G= n.5251G= | dbSNP |