| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43051098A>T | CA10590955 | BRCA1 | c.5294T>A (p.Ile1765Asn) c.5297T>A (p.Ile1766Asn) c.5171T>A (p.Ile1724Asn) c.5291T>A (p.Ile1764Asn) c.5219T>A (p.Ile1740Asn) c.1985T>A (p.Ile662Asn) c.1847T>A (p.Ile616Asn) c.4409T>A (p.Ile1470Asn) c.5174T>A (p.Ile1725Asn) c.5363T>A (p.Ile1788Asn) c.5156T>A (p.Ile1719Asn) c.1859T>A (p.Ile620Asn) c.5360T>A (p.Ile1787Asn) c.1684T>A c.1871T>A (p.Ile624Asn) c.*5080T>A (n.*5080T>A) c.227T>A (p.Ile76Asn) c.770T>A (p.Ile257Asn) c.-98-908T>A (n.-98-908T>A) n.5433T>A n.5474T>A | ClinVar dbSNP |
| 17 | g.43051098A>C | CA003452 | BRCA1 | c.5294T>G (p.Ile1765Ser) c.5297T>G (p.Ile1766Ser) c.5171T>G (p.Ile1724Ser) c.5291T>G (p.Ile1764Ser) c.5219T>G (p.Ile1740Ser) c.1985T>G (p.Ile662Ser) c.1847T>G (p.Ile616Ser) c.4409T>G (p.Ile1470Ser) c.5174T>G (p.Ile1725Ser) c.5363T>G (p.Ile1788Ser) c.5156T>G (p.Ile1719Ser) c.1859T>G (p.Ile620Ser) c.5360T>G (p.Ile1787Ser) c.1684T>G c.1871T>G (p.Ile624Ser) c.*5080T>G (n.*5080T>G) c.227T>G (p.Ile76Ser) c.770T>G (p.Ile257Ser) c.-98-908T>G (n.-98-908T>G) n.5433T>G n.5474T>G | ClinVar dbSNP |
| 17 | g.43051098A>G | CA10590954 | BRCA1 | c.5294T>C (p.Ile1765Thr) c.5297T>C (p.Ile1766Thr) c.5171T>C (p.Ile1724Thr) c.5291T>C (p.Ile1764Thr) c.5219T>C (p.Ile1740Thr) c.1985T>C (p.Ile662Thr) c.1847T>C (p.Ile616Thr) c.4409T>C (p.Ile1470Thr) c.5174T>C (p.Ile1725Thr) c.5363T>C (p.Ile1788Thr) c.5156T>C (p.Ile1719Thr) c.1859T>C (p.Ile620Thr) c.5360T>C (p.Ile1787Thr) c.1684T>C c.1871T>C (p.Ile624Thr) c.*5080T>C (n.*5080T>C) c.227T>C (p.Ile76Thr) c.770T>C (p.Ile257Thr) c.-98-908T>C (n.-98-908T>C) n.5433T>C n.5474T>C | ClinVar dbSNP |
| 17 | g.43051098A= | CA2260763731 | BRCA1 | c.5294T= (p.Ile1765=) c.5297T= (p.Ile1766=) c.5171T= (p.Ile1724=) c.5291T= (p.Ile1764=) c.5219T= (p.Ile1740=) c.1985T= (p.Ile662=) c.1847T= (p.Ile616=) c.4409T= (p.Ile1470=) c.5174T= (p.Ile1725=) c.5363T= (p.Ile1788=) c.5156T= (p.Ile1719=) c.1859T= (p.Ile620=) c.5360T= (p.Ile1787=) c.1684T= c.1871T= (p.Ile624=) c.*5080T= (n.*5080T=) c.227T= (p.Ile76=) c.770T= (p.Ile257=) c.-98-908T= (n.-98-908T=) n.5433T= n.5474T= | dbSNP |