| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339641_32339655del | CA2580087334 | BRCA2 | c.5286_5300del (p.Tyr1762Ter) c.4917_4931del (p.Tyr1639Ter) n.5286_5300del | ClinVar |
| 13 | g.32339645_32339646dup | CA2695217888 | BRCA2 | c.5290_5291dup (p.Lys1765GlnfsTer13) c.4921_4922dup (p.Lys1642GlnfsTer13) n.5290_5291dup | |
| 13 | g.32339645_32339646del | CA021961 | BRCA2 | c.5290_5291del (p.Ser1764LysfsTer3) c.4921_4922del (p.Ser1641LysfsTer3) n.5290_5291del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339644C>A | CA483438506 | BRCA2 | c.5289C>A (p.Leu1763=) c.4920C>A (p.Leu1640=) n.5289C>A | ClinVar dbSNP |
| 13 | g.32339644C= | CA2082821360 | BRCA2 | c.5289C= (p.Leu1763=) c.4920C= (p.Leu1640=) n.5289C= | |
| 13 | g.32339644C>G | CA483438507 | BRCA2 | c.5289C>G (p.Leu1763=) c.4920C>G (p.Leu1640=) n.5289C>G | ClinVar dbSNP |
| 13 | g.32339644C>T | CA6940864 | BRCA2 | c.5289C>T (p.Leu1763=) c.4920C>T (p.Leu1640=) n.5289C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339645T>A | CA387784782 | BRCA2 | c.5290T>A (p.Ser1764Thr) c.4921T>A (p.Ser1641Thr) n.5290T>A | dbSNP |
| 13 | g.32339645T>C | CA387784783 | BRCA2 | c.5290T>C (p.Ser1764Pro) c.4921T>C (p.Ser1641Pro) n.5290T>C | ClinVar dbSNP |
| 13 | g.32339645T>G | CA387784785 | BRCA2 | c.5290T>G (p.Ser1764Ala) c.4921T>G (p.Ser1641Ala) n.5290T>G | |
| 13 | g.32339646C>A | CA387784787 | BRCA2 | c.5291C>A (p.Ser1764Ter) c.4922C>A (p.Ser1641Ter) n.5291C>A | gnomAD v4 |
| 13 | g.32339646C= | CA2082821370 | BRCA2 | c.5291C= (p.Ser1764=) c.4922C= (p.Ser1641=) n.5291C= | |
| 13 | g.32339646C>G | CA021968 | BRCA2 | c.5291C>G (p.Ser1764Ter) c.4922C>G (p.Ser1641Ter) n.5291C>G | ClinVar dbSNP |
| 13 | g.32339646C>T | CA387784789 | BRCA2 | c.5291C>T (p.Ser1764Leu) c.4922C>T (p.Ser1641Leu) n.5291C>T | dbSNP gnomAD v4 |
| 13 | g.32339646_32339647delinsCA | CA2082821379 | BRCA2 | c.5291_5292delinsCA (p.Ser1764=) c.4922_4923delinsCA (p.Ser1641=) n.5291_5292delinsCA | |
| 13 | g.32339647A= | CA2082821385 | BRCA2 | c.5292A= (p.Ser1764=) c.4923A= (p.Ser1641=) n.5292A= | |
| 13 | g.32339647A>C | CA483438508 | BRCA2 | c.5292A>C (p.Ser1764=) c.4923A>C (p.Ser1641=) n.5292A>C | dbSNP |
| 13 | g.32339647A>G | CA483438509 | BRCA2 | c.5292A>G (p.Ser1764=) c.4923A>G (p.Ser1641=) n.5292A>G | ClinVar dbSNP |
| 13 | g.32339647A>T | CA483438510 | BRCA2 | c.5292A>T (p.Ser1764=) c.4923A>T (p.Ser1641=) n.5292A>T | dbSNP |
| 13 | g.32339652dup | CA658656391 | BRCA2 | c.5297dup (p.Asn1766LysfsTer2) c.4928dup (p.Asn1643LysfsTer2) n.5297dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339652del | CA2082821390 | BRCA2 | c.5297del (p.Asn1766IlefsTer11) c.4928del (p.Asn1643IlefsTer11) n.5297del | ClinVar dbSNP |
| 13 | g.32339648A= | CA2082821397 | BRCA2 | c.5293A= (p.Lys1765=) c.4924A= (p.Lys1642=) n.5293A= | |
| 13 | g.32339648A>C | CA387784791 | BRCA2 | c.5293A>C (p.Lys1765Gln) c.4924A>C (p.Lys1642Gln) n.5293A>C | |
| 13 | g.32339648A>G | CA387784792 | BRCA2 | c.5293A>G (p.Lys1765Glu) c.4924A>G (p.Lys1642Glu) n.5293A>G | ClinVar dbSNP |
| 13 | g.32339648A>T | CA10586073 | BRCA2 | c.5293A>T (p.Lys1765Ter) c.4924A>T (p.Lys1642Ter) n.5293A>T | ClinVar dbSNP |
| 13 | g.32339649A= | CA2082821413 | BRCA2 | c.5294A= (p.Lys1765=) c.4925A= (p.Lys1642=) n.5294A= | |
| 13 | g.32339649A>C | CA387784798 | BRCA2 | c.5294A>C (p.Lys1765Thr) c.4925A>C (p.Lys1642Thr) n.5294A>C | |
| 13 | g.32339649A>G | CA387784796 | BRCA2 | c.5294A>G (p.Lys1765Arg) c.4925A>G (p.Lys1642Arg) n.5294A>G | ClinVar dbSNP |
| 13 | g.32339649A>T | CA387784795 | BRCA2 | c.5294A>T (p.Lys1765Ile) c.4925A>T (p.Lys1642Ile) n.5294A>T | |
| 13 | g.32339649_32339653delinsAAAAT | CA2082821410 | BRCA2 | c.5294_5298delinsAAAAT (p.Lys1765=) c.4925_4929delinsAAAAT (p.Lys1642=) n.5294_5298delinsAAAAT | |
| 13 | g.32339650A>C | CA387784800 | BRCA2 | c.5295A>C (p.Lys1765Asn) c.4926A>C (p.Lys1642Asn) n.5295A>C | |
| 13 | g.32339650A>G | CA483438512 | BRCA2 | c.5295A>G (p.Lys1765=) c.4926A>G (p.Lys1642=) n.5295A>G | dbSNP |
| 13 | g.32339650A>T | CA387784801 | BRCA2 | c.5295A>T (p.Lys1765Asn) c.4926A>T (p.Lys1642Asn) n.5295A>T | dbSNP |
| 13 | g.32339650_32339653delinsAAAT | CA2082821423 | BRCA2 | c.5295_5298delinsAAAT (p.Lys1765=) c.4926_4929delinsAAAT (p.Lys1642=) n.5295_5298delinsAAAT | |
| 13 | g.32339653_32339656del | CA16619722 | BRCA2 | c.5298_5301del (p.Lys1767LeufsTer9) c.4929_4932del (p.Lys1644LeufsTer9) n.5298_5301del | ClinVar dbSNP |
| 13 | g.32339651A>C | CA387784802 | BRCA2 | c.5296A>C (p.Asn1766His) c.4927A>C (p.Asn1643His) n.5296A>C | |
| 13 | g.32339651A>G | CA387784804 | BRCA2 | c.5296A>G (p.Asn1766Asp) c.4927A>G (p.Asn1643Asp) n.5296A>G | |
| 13 | g.32339651A>T | CA387784805 | BRCA2 | c.5296A>T (p.Asn1766Tyr) c.4927A>T (p.Asn1643Tyr) n.5296A>T | |
| 13 | g.32339653_32339655del | CA919242502 | BRCA2 | c.5298_5300del (p.Asn1766del) c.4929_4931del (p.Asn1643del) n.5298_5300del | dbSNP |
| 13 | g.32339651_32339660delinsAATAAACTTG | CA2082821431 | BRCA2 | c.5296_5305delinsAATAAACTTG (p.Asn1766=) c.4927_4936delinsAATAAACTTG (p.Asn1643=) n.5296_5305delinsAATAAACTTG | |
| 13 | g.32339652A>C | CA387784807 | BRCA2 | c.5297A>C (p.Asn1766Thr) c.4928A>C (p.Asn1643Thr) n.5297A>C | dbSNP |
| 13 | g.32339652A>G | CA387784809 | BRCA2 | c.5297A>G (p.Asn1766Ser) c.4928A>G (p.Asn1643Ser) n.5297A>G | ClinVar |
| 13 | g.32339652A>T | CA387784810 | BRCA2 | c.5297A>T (p.Asn1766Ile) c.4928A>T (p.Asn1643Ile) n.5297A>T | dbSNP |
| 13 | g.32339652_32339653delinsAT | CA2082821676 | BRCA2 | c.5297_5298delinsAT (p.Asn1766=) c.4928_4929delinsAT (p.Asn1643=) n.5297_5298delinsAT | |
| 13 | g.32339654_32339662del | CA021981 | BRCA2 | c.5299_5307del (p.Lys1767_Asp1769del) c.4930_4938del (p.Lys1644_Asp1646del) n.5299_5307del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339653del | CA10589306 | BRCA2 | c.5298del (p.Asn1766LysfsTer11) c.4929del (p.Asn1643LysfsTer11) n.5298del | ClinVar dbSNP |
| 13 | g.32339653T>A | CA10590056 | BRCA2 | c.5298T>A (p.Asn1766Lys) c.4929T>A (p.Asn1643Lys) n.5298T>A | ClinVar dbSNP |
| 13 | g.32339653T>C | CA021975 | BRCA2 | c.5298T>C (p.Asn1766=) c.4929T>C (p.Asn1643=) n.5298T>C | ClinVar dbSNP |
| 13 | g.32339653T>G | CA387784814 | BRCA2 | c.5298T>G (p.Asn1766Lys) c.4929T>G (p.Asn1643Lys) n.5298T>G |