| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
| 13 | g.32340769_32340781delinsTGAAGGTGGTTCT | CA2082814211 | BRCA2 | c.6414_6426delinsTGAAGGTGGTTCT (p.Val2138=) c.6045_6057delinsTGAAGGTGGTTCT (p.Val2015=) n.6414_6426delinsTGAAGGTGGTTCT | |
| 13 | g.32340770_32340781delinsTGTTTAGTTAG | CA1139663236 | BRCA2 | c.6415_6426delinsTGTTTAGTTAG (p.Glu2139CysfsTer29) c.6046_6057delinsTGTTTAGTTAG (p.Glu2016CysfsTer29) n.6415_6426delinsTGTTTAGTTAG | ClinVar dbSNP |
| 13 | g.32340776_32340779dup | CA913191189 | BRCA2 | c.6421_6424dup (p.Ser2142TrpfsTer6) c.6052_6055dup (p.Ser2019TrpfsTer6) n.6421_6424dup | ClinVar dbSNP |
| 13 | g.32340778T>A | CA483438859 | BRCA2 | c.6423T>A (p.Gly2141=) c.6054T>A (p.Gly2018=) n.6423T>A | dbSNP |
| 13 | g.32340778T>C | CA483438860 | BRCA2 | c.6423T>C (p.Gly2141=) c.6054T>C (p.Gly2018=) n.6423T>C | dbSNP |
| 13 | g.32340778T>G | CA6940952 | BRCA2 | c.6423T>G (p.Gly2141=) c.6054T>G (p.Gly2018=) n.6423T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340778T= | CA2082814339 | BRCA2 | c.6423T= (p.Gly2141=) c.6054T= (p.Gly2018=) n.6423T= | |
| 13 | g.32340779T>A | CA387789280 | BRCA2 | c.6424T>A (p.Ser2142Thr) c.6055T>A (p.Ser2019Thr) n.6424T>A | dbSNP |
| 13 | g.32340779T>C | CA024019 | BRCA2 | c.6424T>C (p.Ser2142Pro) c.6055T>C (p.Ser2019Pro) n.6424T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340779T>G | CA387789281 | BRCA2 | c.6424T>G (p.Ser2142Ala) c.6055T>G (p.Ser2019Ala) n.6424T>G | dbSNP |
| 13 | g.32340779T= | CA2082814347 | BRCA2 | c.6424T= (p.Ser2142=) c.6055T= (p.Ser2019=) n.6424T= | |
| 13 | g.32340780C>A | CA387789282 | BRCA2 | c.6425C>A (p.Ser2142Tyr) c.6056C>A (p.Ser2019Tyr) n.6425C>A | ClinVar dbSNP |
| 13 | g.32340780C>G | CA387789283 | BRCA2 | c.6425C>G (p.Ser2142Cys) c.6056C>G (p.Ser2019Cys) n.6425C>G | dbSNP |
| 13 | g.32340780C>T | CA387789284 | BRCA2 | c.6425C>T (p.Ser2142Phe) c.6056C>T (p.Ser2019Phe) n.6425C>T | dbSNP |
| 13 | g.32340781T>A | CA483438861 | BRCA2 | c.6426T>A (p.Ser2142=) c.6057T>A (p.Ser2019=) n.6426T>A | dbSNP |
| 13 | g.32340781T>C | CA483438862 | BRCA2 | c.6426T>C (p.Ser2142=) c.6057T>C (p.Ser2019=) n.6426T>C | ClinVar dbSNP |
| 13 | g.32340781T>G | CA483438863 | BRCA2 | c.6426T>G (p.Ser2142=) c.6057T>G (p.Ser2019=) n.6426T>G | ClinVar dbSNP |
| 13 | g.32340781T= | CA2082814365 | BRCA2 | c.6426T= (p.Ser2142=) c.6057T= (p.Ser2019=) n.6426T= | |
| 13 | g.32340782T>A | CA387789286 | BRCA2 | c.6427T>A (p.Ser2143Thr) c.6058T>A (p.Ser2020Thr) n.6427T>A | dbSNP |
| 13 | g.32340782T>C | CA387789287 | BRCA2 | c.6427T>C (p.Ser2143Pro) c.6058T>C (p.Ser2020Pro) n.6427T>C | ClinVar dbSNP |
| 13 | g.32340782T>G | CA387789285 | BRCA2 | c.6427T>G (p.Ser2143Ala) c.6058T>G (p.Ser2020Ala) n.6427T>G | gnomAD v4 |
| 13 | g.32340782T= | CA2082814371 | BRCA2 | c.6427T= (p.Ser2143=) c.6058T= (p.Ser2020=) n.6427T= | |
| 13 | g.32340782_32340783delinsAT | CA2695217832 | BRCA2 | c.6427_6428delinsAT (p.Ser2143Ile) c.6058_6059delinsAT (p.Ser2020Ile) n.6427_6428delinsAT | |
| 13 | g.32340782_32340783delinsTC | CA2082814370 | BRCA2 | c.6427_6428delinsTC (p.Ser2143=) c.6058_6059delinsTC (p.Ser2020=) n.6427_6428delinsTC | |
| 13 | g.32340782_32340785del | CA2695217831 | BRCA2 | c.6427_6430del (p.Ser2143LysfsTer24) c.6058_6061del (p.Ser2020LysfsTer24) n.6427_6430del | |
| 13 | g.32340783del | CA024022 | BRCA2 | c.6428del (p.Ser2143Ter) c.6059del (p.Ser2020Ter) n.6428del | ClinVar dbSNP |
| 13 | g.32340783C>A | CA10583121 | BRCA2 | c.6428C>A (p.Ser2143Ter) c.6059C>A (p.Ser2020Ter) n.6428C>A | ClinVar dbSNP |
| 13 | g.32340783C= | CA2082814386 | BRCA2 | c.6428C= (p.Ser2143=) c.6059C= (p.Ser2020=) n.6428C= | |
| 13 | g.32340783C>G | CA10589377 | BRCA2 | c.6428C>G (p.Ser2143Ter) c.6059C>G (p.Ser2020Ter) n.6428C>G | ClinVar dbSNP |
| 13 | g.32340783C>T | CA024021 | BRCA2 | c.6428C>T (p.Ser2143Leu) c.6059C>T (p.Ser2020Leu) n.6428C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32340784A= | CA2082814396 | BRCA2 | c.6429A= (p.Ser2143=) c.6060A= (p.Ser2020=) n.6429A= | |
| 13 | g.32340784A>C | CA483438864 | BRCA2 | c.6429A>C (p.Ser2143=) c.6060A>C (p.Ser2020=) n.6429A>C | ClinVar dbSNP |
| 13 | g.32340784A>G | CA483438865 | BRCA2 | c.6429A>G (p.Ser2143=) c.6060A>G (p.Ser2020=) n.6429A>G | dbSNP |
| 13 | g.32340784A>T | CA483438866 | BRCA2 | c.6429A>T (p.Ser2143=) c.6060A>T (p.Ser2020=) n.6429A>T | ClinVar dbSNP |
| 13 | g.32340785G>A | CA6940953 | BRCA2 | c.6430G>A (p.Glu2144Lys) c.6061G>A (p.Glu2021Lys) n.6430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340785G>C | CA387789289 | BRCA2 | c.6430G>C (p.Glu2144Gln) c.6061G>C (p.Glu2021Gln) n.6430G>C | |
| 13 | g.32340785G= | CA2082814404 | BRCA2 | c.6430G= (p.Glu2144=) c.6061G= (p.Glu2021=) n.6430G= | |
| 13 | g.32340785G>T | CA387789288 | BRCA2 | c.6430G>T (p.Glu2144Ter) c.6061G>T (p.Glu2021Ter) n.6430G>T | dbSNP |
| 13 | g.32340785_32340786delinsGA | CA2082814403 | BRCA2 | c.6430_6431delinsGA (p.Glu2144=) c.6061_6062delinsGA (p.Glu2021=) n.6430_6431delinsGA | |
| 13 | g.32340786A= | CA2082814413 | BRCA2 | c.6431A= (p.Glu2144=) c.6062A= (p.Glu2021=) n.6431A= | |
| 13 | g.32340786A>C | CA387789290 | BRCA2 | c.6431A>C (p.Glu2144Ala) c.6062A>C (p.Glu2021Ala) n.6431A>C | |
| 13 | g.32340786A>G | CA6940954 | BRCA2 | c.6431A>G (p.Glu2144Gly) c.6062A>G (p.Glu2021Gly) n.6431A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340786A>T | CA387789291 | BRCA2 | c.6431A>T (p.Glu2144Val) c.6062A>T (p.Glu2021Val) n.6431A>T | dbSNP |
| 13 | g.32340789dup | CA919242706 | BRCA2 | c.6434dup (p.Asn2145LysfsTer2) c.6065dup (p.Asn2022LysfsTer2) n.6434dup | dbSNP |
| 13 | g.32340789del | CA024024 | BRCA2 | c.6434del (p.Asn2145IlefsTer23) c.6065del (p.Asn2022IlefsTer23) n.6434del | ClinVar dbSNP |
| 13 | g.32340787A>C | CA387789292 | BRCA2 | c.6432A>C (p.Glu2144Asp) c.6063A>C (p.Glu2021Asp) n.6432A>C | gnomAD v4 |
| 13 | g.32340787A>G | CA483438867 | BRCA2 | c.6432A>G (p.Glu2144=) c.6063A>G (p.Glu2021=) n.6432A>G | |
| 13 | g.32340787A>T | CA387789293 | BRCA2 | c.6432A>T (p.Glu2144Asp) c.6063A>T (p.Glu2021Asp) n.6432A>T | dbSNP |