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.32340857G>A | CA387789546 | BRCA2 | c.6502G>A (p.Gly2168Arg) c.6133G>A (p.Gly2045Arg) n.6502G>A | dbSNP gnomAD v4 |
13 | g.32340857G>C | CA387789547 | BRCA2 | c.6502G>C (p.Gly2168Arg) c.6133G>C (p.Gly2045Arg) n.6502G>C | ClinVar dbSNP |
13 | g.32340857G= | CA2082815319 | BRCA2 | c.6502G= (p.Gly2168=) c.6133G= (p.Gly2045=) n.6502G= | |
13 | g.32340857G>T | CA10589382 | BRCA2 | c.6502G>T (p.Gly2168Ter) c.6133G>T (p.Gly2045Ter) n.6502G>T | ClinVar dbSNP |
13 | g.32340858del | CA1139770408 | BRCA2 | c.6503del (p.Gly2168GlufsTer23) c.6134del (p.Gly2045GlufsTer23) n.6503del | |
13 | g.32340858G>A | CA024121 | BRCA2 | c.6503G>A (p.Gly2168Glu) c.6134G>A (p.Gly2045Glu) n.6503G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340858G>C | CA387789550 | BRCA2 | c.6503G>C (p.Gly2168Ala) c.6134G>C (p.Gly2045Ala) n.6503G>C | ClinVar dbSNP |
13 | g.32340858G= | CA2082815333 | BRCA2 | c.6503G= (p.Gly2168=) c.6134G= (p.Gly2045=) n.6503G= | |
13 | g.32340858G>T | CA387789551 | BRCA2 | c.6503G>T (p.Gly2168Val) c.6134G>T (p.Gly2045Val) n.6503G>T | gnomAD v4 |
13 | g.32340858_32340859del | CA1139770852 | BRCA2 | c.6503_6504del (p.Gly2168AspfsTer7) c.6134_6135del (p.Gly2045AspfsTer7) n.6503_6504del | |
13 | g.32340859A= | CA2082815347 | BRCA2 | c.6504A= (p.Gly2168=) c.6135A= (p.Gly2045=) n.6504A= | |
13 | g.32340859A>C | CA6940965 | BRCA2 | c.6504A>C (p.Gly2168=) c.6135A>C (p.Gly2045=) n.6504A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340859A>G | CA483439078 | BRCA2 | c.6504A>G (p.Gly2168=) c.6135A>G (p.Gly2045=) n.6504A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340859A>T | CA483439079 | BRCA2 | c.6504A>T (p.Gly2168=) c.6135A>T (p.Gly2045=) n.6504A>T | ClinVar dbSNP |
13 | g.32340860A= | CA2082815358 | BRCA2 | c.6505A= (p.Thr2169=) c.6136A= (p.Thr2046=) n.6505A= | |
13 | g.32340860A>C | CA387789555 | BRCA2 | c.6505A>C (p.Thr2169Pro) c.6136A>C (p.Thr2046Pro) n.6505A>C | |
13 | g.32340860A>G | CA387789556 | BRCA2 | c.6505A>G (p.Thr2169Ala) c.6136A>G (p.Thr2046Ala) n.6505A>G | |
13 | g.32340860A>T | CA387789558 | BRCA2 | c.6505A>T (p.Thr2169Ser) c.6136A>T (p.Thr2046Ser) n.6505A>T | ClinVar dbSNP gnomAD v2 |
13 | g.32340861C>A | CA387789564 | BRCA2 | c.6506C>A (p.Thr2169Asn) c.6137C>A (p.Thr2046Asn) n.6506C>A | ClinVar dbSNP |
13 | g.32340861C= | CA2082815369 | BRCA2 | c.6506C= (p.Thr2169=) c.6137C= (p.Thr2046=) n.6506C= | |
13 | g.32340861C>G | CA387789562 | BRCA2 | c.6506C>G (p.Thr2169Ser) c.6137C>G (p.Thr2046Ser) n.6506C>G | dbSNP |
13 | g.32340861C>T | CA387789560 | BRCA2 | c.6506C>T (p.Thr2169Ile) c.6137C>T (p.Thr2046Ile) n.6506C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340862C>A | CA483439082 | BRCA2 | c.6507C>A (p.Thr2169=) c.6138C>A (p.Thr2046=) n.6507C>A | dbSNP gnomAD v4 |
13 | g.32340862C>G | CA483439083 | BRCA2 | c.6507C>G (p.Thr2169=) c.6138C>G (p.Thr2046=) n.6507C>G | dbSNP |
13 | g.32340862C>T | CA483439084 | BRCA2 | c.6507C>T (p.Thr2169=) c.6138C>T (p.Thr2046=) n.6507C>T | ClinVar dbSNP |
13 | g.32340862_32340864delinsCAA | CA2082815378 | BRCA2 | c.6507_6509delinsCAA (p.Thr2169=) c.6138_6140delinsCAA (p.Thr2046=) n.6507_6509delinsCAA | |
13 | g.32340863A= | CA2082815391 | BRCA2 | c.6508A= (p.Lys2170=) c.6139A= (p.Lys2047=) n.6508A= | |
13 | g.32340863A>C | CA387789566 | BRCA2 | c.6508A>C (p.Lys2170Gln) c.6139A>C (p.Lys2047Gln) n.6508A>C | |
13 | g.32340863A>G | CA387789569 | BRCA2 | c.6508A>G (p.Lys2170Glu) c.6139A>G (p.Lys2047Glu) n.6508A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340863A>T | CA387789570 | BRCA2 | c.6508A>T (p.Lys2170Ter) c.6139A>T (p.Lys2047Ter) n.6508A>T | dbSNP |
13 | g.32340865dup | CA10589383 | BRCA2 | c.6510dup (p.Val2171SerfsTer5) c.6141dup (p.Val2048SerfsTer5) n.6510dup | ClinVar dbSNP |
13 | g.32340865del | CA2513636798 | BRCA2 | c.6510del (p.Val2171CysfsTer20) c.6141del (p.Val2048CysfsTer20) n.6510del | ClinVar dbSNP |
13 | g.32340864_32340865del | CA024123 | BRCA2 | c.6509_6510del (p.Lys2170SerfsTer5) c.6140_6141del (p.Lys2047SerfsTer5) n.6509_6510del | ClinVar dbSNP |
13 | g.32340864A= | CA2082815400 | BRCA2 | c.6509A= (p.Lys2170=) c.6140A= (p.Lys2047=) n.6509A= | |
13 | g.32340864A>C | CA387789572 | BRCA2 | c.6509A>C (p.Lys2170Thr) c.6140A>C (p.Lys2047Thr) n.6509A>C | ClinVar |
13 | g.32340864A>G | CA387789574 | BRCA2 | c.6509A>G (p.Lys2170Arg) c.6140A>G (p.Lys2047Arg) n.6509A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340864A>T | CA387789576 | BRCA2 | c.6509A>T (p.Lys2170Ile) c.6140A>T (p.Lys2047Ile) n.6509A>T | |
13 | g.32340865A>C | CA387789578 | BRCA2 | c.6510A>C (p.Lys2170Asn) c.6141A>C (p.Lys2047Asn) n.6510A>C | gnomAD v4 |
13 | g.32340865A>G | CA483439085 | BRCA2 | c.6510A>G (p.Lys2170=) c.6141A>G (p.Lys2047=) n.6510A>G | dbSNP |
13 | g.32340865A>T | CA387789579 | BRCA2 | c.6510A>T (p.Lys2170Asn) c.6141A>T (p.Lys2047Asn) n.6510A>T | dbSNP |
13 | g.32340865_32340867delinsAGT | CA2082815403 | BRCA2 | c.6510_6512delinsAGT (p.Lys2170=) c.6141_6143delinsAGT (p.Lys2047=) n.6510_6512delinsAGT | |
13 | g.32340866G>A | CA387789580 | BRCA2 | c.6511G>A (p.Val2171Met) c.6142G>A (p.Val2048Met) n.6511G>A | ClinVar dbSNP |
13 | g.32340866G>C | CA387789582 | BRCA2 | c.6511G>C (p.Val2171Leu) c.6142G>C (p.Val2048Leu) n.6511G>C | |
13 | g.32340866G= | CA2082815410 | BRCA2 | c.6511G= (p.Val2171=) c.6142G= (p.Val2048=) n.6511G= | |
13 | g.32340866G>T | CA387789584 | BRCA2 | c.6511G>T (p.Val2171Leu) c.6142G>T (p.Val2048Leu) n.6511G>T | |
13 | g.32340866_32340868delinsATC | CA913188570 | BRCA2 | c.6511_6513delinsATC (p.Val2171Ile) c.6142_6144delinsATC (p.Val2048Ile) n.6511_6513delinsATC | ClinVar dbSNP |
13 | g.32340866_32340868delinsGTG | CA2082815415 | BRCA2 | c.6511_6513delinsGTG (p.Val2171=) c.6142_6144delinsGTG (p.Val2048=) n.6511_6513delinsGTG | |
13 | g.32340868_32340869del | CA658656345 | BRCA2 | c.6513_6514del (p.Ser2172ThrfsTer3) c.6144_6145del (p.Ser2049ThrfsTer3) n.6513_6514del | ClinVar dbSNP |