| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063930C>A | CA003237 | BRCA1 | c.5093G>T (p.Arg1698Leu) c.5096G>T (p.Arg1699Leu) c.4970G>T (p.Arg1657Leu) c.5090G>T (p.Arg1697Leu) c.5018G>T (p.Arg1673Leu) c.1784G>T (p.Arg595Leu) c.1646G>T (p.Arg549Leu) c.4208G>T (p.Arg1403Leu) c.4973G>T (p.Arg1658Leu) c.5162G>T (p.Arg1721Leu) c.4955G>T (p.Arg1652Leu) c.1658G>T (p.Arg553Leu) c.5159G>T (p.Arg1720Leu) c.1483G>T c.1670G>T (p.Arg557Leu) c.*4879G>T (n.*4879G>T) c.1409G>T (p.Arg470Leu) c.26G>T (p.Arg9Leu) c.569G>T (p.Arg190Leu) c.-98-13740G>T (n.-98-13740G>T) n.5232G>T n.5273G>T | ClinVar dbSNP |
| 17 | g.43063930C>T | CA003235 | BRCA1 | c.5093G>A (p.Arg1698Gln) c.5096G>A (p.Arg1699Gln) c.4970G>A (p.Arg1657Gln) c.5090G>A (p.Arg1697Gln) c.5018G>A (p.Arg1673Gln) c.1784G>A (p.Arg595Gln) c.1646G>A (p.Arg549Gln) c.4208G>A (p.Arg1403Gln) c.4973G>A (p.Arg1658Gln) c.5162G>A (p.Arg1721Gln) c.4955G>A (p.Arg1652Gln) c.1658G>A (p.Arg553Gln) c.5159G>A (p.Arg1720Gln) c.1483G>A c.1670G>A (p.Arg557Gln) c.*4879G>A (n.*4879G>A) c.1409G>A (p.Arg470Gln) c.26G>A (p.Arg9Gln) c.569G>A (p.Arg190Gln) c.-98-13740G>A (n.-98-13740G>A) n.5232G>A n.5273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43063930C>G | CA003236 | BRCA1 | c.5093G>C (p.Arg1698Pro) c.5096G>C (p.Arg1699Pro) c.4970G>C (p.Arg1657Pro) c.5090G>C (p.Arg1697Pro) c.5018G>C (p.Arg1673Pro) c.1784G>C (p.Arg595Pro) c.1646G>C (p.Arg549Pro) c.4208G>C (p.Arg1403Pro) c.4973G>C (p.Arg1658Pro) c.5162G>C (p.Arg1721Pro) c.4955G>C (p.Arg1652Pro) c.1658G>C (p.Arg553Pro) c.5159G>C (p.Arg1720Pro) c.1483G>C c.1670G>C (p.Arg557Pro) c.*4879G>C (n.*4879G>C) c.1409G>C (p.Arg470Pro) c.26G>C (p.Arg9Pro) c.569G>C (p.Arg190Pro) c.-98-13740G>C (n.-98-13740G>C) n.5232G>C n.5273G>C | ClinVar dbSNP |
| 17 | g.43063930C= | CA913203494 | BRCA1 | c.5093G= (p.Arg1698=) c.5096G= (p.Arg1699=) c.4970G= (p.Arg1657=) c.5090G= (p.Arg1697=) c.5018G= (p.Arg1673=) c.1784G= (p.Arg595=) c.1646G= (p.Arg549=) c.4208G= (p.Arg1403=) c.4973G= (p.Arg1658=) c.5162G= (p.Arg1721=) c.4955G= (p.Arg1652=) c.1658G= (p.Arg553=) c.5159G= (p.Arg1720=) c.1483G= c.1670G= (p.Arg557=) c.*4879G= (n.*4879G=) c.1409G= (p.Arg470=) c.26G= (p.Arg9=) c.569G= (p.Arg190=) c.-98-13740G= (n.-98-13740G=) n.5232G= n.5273G= | dbSNP |