| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32355104_32355105del | CA024993 | BRCA2 | c.7251_7252del (p.His2417GlnfsTer3) c.6882_6883del (p.His2294GlnfsTer3) n.7251_7252del c.7155_7156del (p.His2385GlnfsTer3) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355104C>A | CA387740472 | BRCA2 | c.7251C>A (p.His2417Gln) c.6882C>A (p.His2294Gln) n.7251C>A c.7155C>A (p.His2385Gln) | |
| 13 | g.32355104C= | CA2082810240 | BRCA2 | c.7251C= (p.His2417=) c.6882C= (p.His2294=) n.7251C= c.7155C= (p.His2385=) | |
| 13 | g.32355104C>G | CA387740475 | BRCA2 | c.7251C>G (p.His2417Gln) c.6882C>G (p.His2294Gln) n.7251C>G c.7155C>G (p.His2385Gln) | dbSNP gnomAD v4 |
| 13 | g.32355104C>T | CA10579730 | BRCA2 | c.7251C>T (p.His2417=) c.6882C>T (p.His2294=) n.7251C>T c.7155C>T (p.His2385=) | ClinVar dbSNP |
| 13 | g.32355104_32355105delinsCA | CA2082810246 | BRCA2 | c.7251_7252delinsCA (p.His2417=) c.6882_6883delinsCA (p.His2294=) n.7251_7252delinsCA c.7155_7156delinsCA (p.His2385=) | |
| 13 | g.32355104_32355106delinsCAG | CA2082810223 | BRCA2 | c.7251_7253delinsCAG (p.His2417=) c.6882_6884delinsCAG (p.His2294=) n.7251_7253delinsCAG c.7155_7157delinsCAG (p.His2385=) | |
| 13 | g.32355105del | CA658656415 | BRCA2 | c.7252del (p.Arg2418GlufsTer?) c.6883del (p.Arg2295GlufsTer?) n.7252del c.7156del (p.Arg2386GlufsTer?) | ClinVar dbSNP |
| 13 | g.32355105A= | CA2082810268 | BRCA2 | c.7252A= (p.Arg2418=) c.6883A= (p.Arg2295=) n.7252A= c.7156A= (p.Arg2386=) | |
| 13 | g.32355105A>C | CA483439791 | BRCA2 | c.7252A>C (p.Arg2418=) c.6883A>C (p.Arg2295=) n.7252A>C c.7156A>C (p.Arg2386=) | |
| 13 | g.32355105A>G | CA024996 | BRCA2 | c.7252A>G (p.Arg2418Gly) c.6883A>G (p.Arg2295Gly) n.7252A>G c.7156A>G (p.Arg2386Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355105A>T | CA387740481 | BRCA2 | c.7252A>T (p.Arg2418Ter) c.6883A>T (p.Arg2295Ter) n.7252A>T c.7156A>T (p.Arg2386Ter) | ClinVar dbSNP |
| 13 | g.32355107_32355108del | CA025000 | BRCA2 | c.7254_7255del (p.Arg2418SerfsTer2) c.6885_6886del (p.Arg2295SerfsTer2) n.7254_7255del c.7158_7159del (p.Arg2386SerfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355106G>A | CA024998 | BRCA2 | c.7253G>A (p.Arg2418Lys) c.6884G>A (p.Arg2295Lys) n.7253G>A c.7157G>A (p.Arg2386Lys) | ClinVar dbSNP |
| 13 | g.32355106G>C | CA387740495 | BRCA2 | c.7253G>C (p.Arg2418Thr) c.6884G>C (p.Arg2295Thr) n.7253G>C c.7157G>C (p.Arg2386Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32355106G= | CA2082810275 | BRCA2 | c.7253G= (p.Arg2418=) c.6884G= (p.Arg2295=) n.7253G= c.7157G= (p.Arg2386=) | |
| 13 | g.32355106G>T | CA387740493 | BRCA2 | c.7253G>T (p.Arg2418Ile) c.6884G>T (p.Arg2295Ile) n.7253G>T c.7157G>T (p.Arg2386Ile) | dbSNP COSMIC COSMIC |
| 13 | g.32355107A>C | CA387740496 | BRCA2 | c.7254A>C (p.Arg2418Ser) c.6885A>C (p.Arg2295Ser) n.7254A>C c.7158A>C (p.Arg2386Ser) | |
| 13 | g.32355107A>G | CA483439792 | BRCA2 | c.7254A>G (p.Arg2418=) c.6885A>G (p.Arg2295=) n.7254A>G c.7158A>G (p.Arg2386=) | |
| 13 | g.32355107A>T | CA387740505 | BRCA2 | c.7254A>T (p.Arg2418Ser) c.6885A>T (p.Arg2295Ser) n.7254A>T c.7158A>T (p.Arg2386Ser) | dbSNP |
| 13 | g.32355108G>A | CA387740507 | BRCA2 | c.7255G>A (p.Val2419Ile) c.6886G>A (p.Val2296Ile) n.7255G>A c.7159G>A (p.Val2387Ile) | ClinVar |
| 13 | g.32355108G>C | CA387740508 | BRCA2 | c.7255G>C (p.Val2419Leu) c.6886G>C (p.Val2296Leu) n.7255G>C c.7159G>C (p.Val2387Leu) | |
| 13 | g.32355108G= | CA2082810279 | BRCA2 | c.7255G= (p.Val2419=) c.6886G= (p.Val2296=) n.7255G= c.7159G= (p.Val2387=) | |
| 13 | g.32355108G>T | CA387740509 | BRCA2 | c.7255G>T (p.Val2419Phe) c.6886G>T (p.Val2296Phe) n.7255G>T c.7159G>T (p.Val2387Phe) | ClinVar dbSNP |
| 13 | g.32355109T>A | CA387740510 | BRCA2 | c.7256T>A (p.Val2419Asp) c.6887T>A (p.Val2296Asp) n.7256T>A c.7160T>A (p.Val2387Asp) | dbSNP |
| 13 | g.32355109T>C | CA387740513 | BRCA2 | c.7256T>C (p.Val2419Ala) c.6887T>C (p.Val2296Ala) n.7256T>C c.7160T>C (p.Val2387Ala) | dbSNP gnomAD v4 |
| 13 | g.32355109T>G | CA387740514 | BRCA2 | c.7256T>G (p.Val2419Gly) c.6887T>G (p.Val2296Gly) n.7256T>G c.7160T>G (p.Val2387Gly) | ClinVar |
| 13 | g.32355109T= | CA2082810295 | BRCA2 | c.7256T= (p.Val2419=) c.6887T= (p.Val2296=) n.7256T= c.7160T= (p.Val2387=) | |
| 13 | g.32355110T>A | CA483439793 | BRCA2 | c.7257T>A (p.Val2419=) c.6888T>A (p.Val2296=) n.7257T>A c.7161T>A (p.Val2387=) | dbSNP |
| 13 | g.32355110T>C | CA247468604 | BRCA2 | c.7257T>C (p.Val2419=) c.6888T>C (p.Val2296=) n.7257T>C c.7161T>C (p.Val2387=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355110T>G | CA483439794 | BRCA2 | c.7257T>G (p.Val2419=) c.6888T>G (p.Val2296=) n.7257T>G c.7161T>G (p.Val2387=) | |
| 13 | g.32355110T= | CA2082810303 | BRCA2 | c.7257T= (p.Val2419=) c.6888T= (p.Val2296=) n.7257T= c.7161T= (p.Val2387=) | |
| 13 | g.32355110_32355111dup | CA919242720 | BRCA2 | c.7257_7258dup (p.Glu2420ValfsTer?) c.6888_6889dup (p.Glu2297ValfsTer?) n.7257_7258dup c.7161_7162dup (p.Glu2388ValfsTer?) | dbSNP |
| 13 | g.32355112_32355118del | CA2499222277 | BRCA2 | c.7259_7265del (p.Glu2420ValfsTer?) c.6890_6896del (p.Glu2297ValfsTer?) n.7259_7265del c.7163_7169del (p.Glu2388ValfsTer?) | |
| 13 | g.32355111G>A | CA387740528 | BRCA2 | c.7258G>A (p.Glu2420Lys) c.6889G>A (p.Glu2297Lys) n.7258G>A c.7162G>A (p.Glu2388Lys) | dbSNP |
| 13 | g.32355111G>C | CA387740532 | BRCA2 | c.7258G>C (p.Glu2420Gln) c.6889G>C (p.Glu2297Gln) n.7258G>C c.7162G>C (p.Glu2388Gln) | dbSNP |
| 13 | g.32355111G= | CA2082810309 | BRCA2 | c.7258G= (p.Glu2420=) c.6889G= (p.Glu2297=) n.7258G= c.7162G= (p.Glu2388=) | |
| 13 | g.32355111G>T | CA025002 | BRCA2 | c.7258G>T (p.Glu2420Ter) c.6889G>T (p.Glu2297Ter) n.7258G>T c.7162G>T (p.Glu2388Ter) | ClinVar dbSNP |
| 13 | g.32355112A>C | CA387740543 | BRCA2 | c.7259A>C (p.Glu2420Ala) c.6890A>C (p.Glu2297Ala) n.7259A>C c.7163A>C (p.Glu2388Ala) | |
| 13 | g.32355112A>G | CA387740542 | BRCA2 | c.7259A>G (p.Glu2420Gly) c.6890A>G (p.Glu2297Gly) n.7259A>G c.7163A>G (p.Glu2388Gly) | dbSNP |
| 13 | g.32355112A>T | CA387740537 | BRCA2 | c.7259A>T (p.Glu2420Val) c.6890A>T (p.Glu2297Val) n.7259A>T c.7163A>T (p.Glu2388Val) | dbSNP |
| 13 | g.32355112_32355113insGAA | CA2695217917 | BRCA2 | c.7259_7260insGAA (p.Glu2420_Gln2421insLys) c.6890_6891insGAA (p.Glu2297_Gln2298insLys) n.7259_7260insGAA c.7163_7164insGAA (p.Glu2388_Gln2389insLys) | |
| 13 | g.32355113A>C | CA387740546 | BRCA2 | c.7260A>C (p.Glu2420Asp) c.6891A>C (p.Glu2297Asp) n.7260A>C c.7164A>C (p.Glu2388Asp) | dbSNP |
| 13 | g.32355113A>G | CA483439795 | BRCA2 | c.7260A>G (p.Glu2420=) c.6891A>G (p.Glu2297=) n.7260A>G c.7164A>G (p.Glu2388=) | ClinVar COSMIC COSMIC |
| 13 | g.32355113A>T | CA387740548 | BRCA2 | c.7260A>T (p.Glu2420Asp) c.6891A>T (p.Glu2297Asp) n.7260A>T c.7164A>T (p.Glu2388Asp) | dbSNP |
| 13 | g.32355114C>A | CA387740550 | BRCA2 | c.7261C>A (p.Gln2421Lys) c.6892C>A (p.Gln2298Lys) n.7261C>A c.7165C>A (p.Gln2389Lys) | dbSNP |
| 13 | g.32355114C= | CA2082810323 | BRCA2 | c.7261C= (p.Gln2421=) c.6892C= (p.Gln2298=) n.7261C= c.7165C= (p.Gln2389=) | |
| 13 | g.32355114C>G | CA387740552 | BRCA2 | c.7261C>G (p.Gln2421Glu) c.6892C>G (p.Gln2298Glu) n.7261C>G c.7165C>G (p.Gln2389Glu) | dbSNP |
| 13 | g.32355114C>T | CA025004 | BRCA2 | c.7261C>T (p.Gln2421Ter) c.6892C>T (p.Gln2298Ter) n.7261C>T c.7165C>T (p.Gln2389Ter) | ClinVar dbSNP |