| 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.32339651_32339660delinsAATAAACTTG | CA2082821431 | BRCA2 | c.5296_5305delinsAATAAACTTG (p.Asn1766=) c.4927_4936delinsAATAAACTTG (p.Asn1643=) n.5296_5305delinsAATAAACTTG | |
| 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.32339657_32339658delinsCT | CA2082821740 | BRCA2 | c.5302_5303delinsCT (p.Leu1768=) c.4933_4934delinsCT (p.Leu1645=) n.5302_5303delinsCT | |
| 13 | g.32339657_32339659delinsCTT | CA2082821734 | BRCA2 | c.5302_5304delinsCTT (p.Leu1768=) c.4933_4935delinsCTT (p.Leu1645=) n.5302_5304delinsCTT | |
| 13 | g.32339657_32339666delinsCTTGATTCTG | CA2082821742 | BRCA2 | c.5302_5311delinsCTTGATTCTG (p.Leu1768=) c.4933_4942delinsCTTGATTCTG (p.Leu1645=) n.5302_5311delinsCTTGATTCTG | |
| 13 | g.32339658T>A | CA387784835 | BRCA2 | c.5303T>A (p.Leu1768His) c.4934T>A (p.Leu1645His) n.5303T>A | ClinVar dbSNP |
| 13 | g.32339658T>C | CA387784836 | BRCA2 | c.5303T>C (p.Leu1768Pro) c.4934T>C (p.Leu1645Pro) n.5303T>C | |
| 13 | g.32339658T>G | CA387784838 | BRCA2 | c.5303T>G (p.Leu1768Arg) c.4934T>G (p.Leu1645Arg) n.5303T>G | |
| 13 | g.32339658_32339659del | CA021993 | BRCA2 | c.5303_5304del (p.Leu1768ArgfsTer5) c.4934_4935del (p.Leu1645ArgfsTer5) n.5303_5304del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339659del | CA10586540 | BRCA2 | c.5304del (p.Asp1769IlefsTer8) c.4935del (p.Asp1646IlefsTer8) n.5304del | ClinVar dbSNP |
| 13 | g.32339658_32339666delinsA | CA10589307 | BRCA2 | c.5303_5311delinsA (p.Leu1768GlnfsTer3) c.4934_4942delinsA (p.Leu1645GlnfsTer3) n.5303_5311delinsA | ClinVar dbSNP |
| 13 | g.32339659T>A | CA483438589 | BRCA2 | c.5304T>A (p.Leu1768=) c.4935T>A (p.Leu1645=) n.5304T>A | dbSNP |
| 13 | g.32339659T>C | CA483438590 | BRCA2 | c.5304T>C (p.Leu1768=) c.4935T>C (p.Leu1645=) n.5304T>C | dbSNP |
| 13 | g.32339659T>G | CA483438591 | BRCA2 | c.5304T>G (p.Leu1768=) c.4935T>G (p.Leu1645=) n.5304T>G | |
| 13 | g.32339659T= | CA2082821786 | BRCA2 | c.5304T= (p.Leu1768=) c.4935T= (p.Leu1645=) n.5304T= | |
| 13 | g.32339660del | CA2499222194 | BRCA2 | c.5305del (p.Asp1769IlefsTer8) c.4936del (p.Asp1646IlefsTer8) n.5305del | ClinVar dbSNP |
| 13 | g.32339660G>A | CA387784840 | BRCA2 | c.5305G>A (p.Asp1769Asn) c.4936G>A (p.Asp1646Asn) n.5305G>A | dbSNP |
| 13 | g.32339660G>C | CA387784844 | BRCA2 | c.5305G>C (p.Asp1769His) c.4936G>C (p.Asp1646His) n.5305G>C | dbSNP |
| 13 | g.32339660G>T | CA387784842 | BRCA2 | c.5305G>T (p.Asp1769Tyr) c.4936G>T (p.Asp1646Tyr) n.5305G>T | gnomAD v4 |
| 13 | g.32339661A= | CA2082821796 | BRCA2 | c.5306A= (p.Asp1769=) c.4937A= (p.Asp1646=) n.5306A= | |
| 13 | g.32339661A>C | CA387784845 | BRCA2 | c.5306A>C (p.Asp1769Ala) c.4937A>C (p.Asp1646Ala) n.5306A>C | dbSNP |
| 13 | g.32339661A>G | CA387784846 | BRCA2 | c.5306A>G (p.Asp1769Gly) c.4937A>G (p.Asp1646Gly) n.5306A>G | dbSNP gnomAD v4 |
| 13 | g.32339661A>T | CA247509943 | BRCA2 | c.5306A>T (p.Asp1769Val) c.4937A>T (p.Asp1646Val) n.5306A>T | dbSNP gnomAD v4 |
| 13 | g.32339661_32339662delinsAT | CA2082821792 | BRCA2 | c.5306_5307delinsAT (p.Asp1769=) c.4937_4938delinsAT (p.Asp1646=) n.5306_5307delinsAT | |
| 13 | g.32339662T>A | CA387784849 | BRCA2 | c.5307T>A (p.Asp1769Glu) c.4938T>A (p.Asp1646Glu) n.5307T>A | ClinVar dbSNP |
| 13 | g.32339662T>C | CA6940865 | BRCA2 | c.5307T>C (p.Asp1769=) c.4938T>C (p.Asp1646=) n.5307T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339662T>G | CA387784851 | BRCA2 | c.5307T>G (p.Asp1769Glu) c.4938T>G (p.Asp1646Glu) n.5307T>G | dbSNP |
| 13 | g.32339662T= | CA2082821830 | BRCA2 | c.5307T= (p.Asp1769=) c.4938T= (p.Asp1646=) n.5307T= | |
| 13 | g.32339663del | CA10579652 | BRCA2 | c.5308del (p.Ser1770LeufsTer7) c.4939del (p.Ser1647LeufsTer7) n.5308del | ClinVar dbSNP |
| 13 | g.32339663T>A | CA387784853 | BRCA2 | c.5308T>A (p.Ser1770Thr) c.4939T>A (p.Ser1647Thr) n.5308T>A | dbSNP |
| 13 | g.32339663T>C | CA387784855 | BRCA2 | c.5308T>C (p.Ser1770Pro) c.4939T>C (p.Ser1647Pro) n.5308T>C | dbSNP |
| 13 | g.32339663T>G | CA387784856 | BRCA2 | c.5308T>G (p.Ser1770Ala) c.4939T>G (p.Ser1647Ala) n.5308T>G | |
| 13 | g.32339664C>A | CA387784857 | BRCA2 | c.5309C>A (p.Ser1770Tyr) c.4940C>A (p.Ser1647Tyr) n.5309C>A | dbSNP |
| 13 | g.32339664C= | CA2082821837 | BRCA2 | c.5309C= (p.Ser1770=) c.4940C= (p.Ser1647=) n.5309C= | |
| 13 | g.32339664C>G | CA387784859 | BRCA2 | c.5309C>G (p.Ser1770Cys) c.4940C>G (p.Ser1647Cys) n.5309C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339664C>T | CA387784861 | BRCA2 | c.5309C>T (p.Ser1770Phe) c.4940C>T (p.Ser1647Phe) n.5309C>T | dbSNP |
| 13 | g.32339665T>A | CA483438595 | BRCA2 | c.5310T>A (p.Ser1770=) c.4941T>A (p.Ser1647=) n.5310T>A | |
| 13 | g.32339665T>C | CA483438596 | BRCA2 | c.5310T>C (p.Ser1770=) c.4941T>C (p.Ser1647=) n.5310T>C | |
| 13 | g.32339665T>G | CA483438597 | BRCA2 | c.5310T>G (p.Ser1770=) c.4941T>G (p.Ser1647=) n.5310T>G | ClinVar dbSNP |
| 13 | g.32339665T= | CA2082821850 | BRCA2 | c.5310T= (p.Ser1770=) c.4941T= (p.Ser1647=) n.5310T= | |
| 13 | g.32339666G>A | CA387784863 | BRCA2 | c.5311G>A (p.Gly1771Ser) c.4942G>A (p.Gly1648Ser) n.5311G>A | ClinVar dbSNP |
| 13 | g.32339666G>C | CA387784865 | BRCA2 | c.5311G>C (p.Gly1771Arg) c.4942G>C (p.Gly1648Arg) n.5311G>C | |
| 13 | g.32339666G= | CA2082821861 | BRCA2 | c.5311G= (p.Gly1771=) c.4942G= (p.Gly1648=) n.5311G= | |
| 13 | g.32339666G>T | CA387784864 | BRCA2 | c.5311G>T (p.Gly1771Cys) c.4942G>T (p.Gly1648Cys) n.5311G>T | |
| 13 | g.32339667G>A | CA022001 | BRCA2 | c.5312G>A (p.Gly1771Asp) c.4943G>A (p.Gly1648Asp) n.5312G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339667G>C | CA387784868 | BRCA2 | c.5312G>C (p.Gly1771Ala) c.4943G>C (p.Gly1648Ala) n.5312G>C | ClinVar dbSNP |
| 13 | g.32339667G= | CA2082821868 | BRCA2 | c.5312G= (p.Gly1771=) c.4943G= (p.Gly1648=) n.5312G= | |
| 13 | g.32339667G>T | CA10583113 | BRCA2 | c.5312G>T (p.Gly1771Val) c.4943G>T (p.Gly1648Val) n.5312G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339668_32339674del | CA2695217889 | BRCA2 | c.5313_5319del (p.Ile1772GlnfsTer3) c.4944_4950del (p.Ile1649GlnfsTer3) n.5313_5319del |