| 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.32339671_32339695delinsTGAGCCAGTATTGAAGAATGTTGAA | CA2082821885 | BRCA2 | c.5316_5340delinsTGAGCCAGTATTGAAGAATGTTGAA (p.Ile1772=) c.4947_4971delinsTGAGCCAGTATTGAAGAATGTTGAA (p.Ile1649=) n.5316_5340delinsTGAGCCAGTATTGAAGAATGTTGAA | |
| 13 | g.32339674_32339697del | CA915948489 | BRCA2 | c.5319_5342del (p.Glu1773_Glu1780del) c.4950_4973del (p.Glu1650_Glu1657del) n.5319_5342del | ClinVar dbSNP |
| 13 | g.32339689_32339695del | CA10579653 | BRCA2 | c.5334_5340del (p.Asn1778LysfsTer11) c.4965_4971del (p.Asn1655LysfsTer11) n.5334_5340del | ClinVar dbSNP |
| 13 | g.32339692_32339693delinsTG | CA2082822064 | BRCA2 | c.5337_5338delinsTG (p.Val1779=) c.4968_4969delinsTG (p.Val1656=) n.5337_5338delinsTG | |
| 13 | g.32339693del | CA913190949 | BRCA2 | c.5338del (p.Glu1780LysfsTer11) c.4969del (p.Glu1657LysfsTer11) n.5338del | ClinVar dbSNP |
| 13 | g.32339693G>A | CA387784957 | BRCA2 | c.5338G>A (p.Glu1780Lys) c.4969G>A (p.Glu1657Lys) n.5338G>A | dbSNP |
| 13 | g.32339693G>C | CA387784958 | BRCA2 | c.5338G>C (p.Glu1780Gln) c.4969G>C (p.Glu1657Gln) n.5338G>C | dbSNP |
| 13 | g.32339693G>T | CA387784960 | BRCA2 | c.5338G>T (p.Glu1780Ter) c.4969G>T (p.Glu1657Ter) n.5338G>T | dbSNP |
| 13 | g.32339693dup | CA10589309 | BRCA2 | c.5338dup (p.Glu1780GlyfsTer7) c.4969dup (p.Glu1657GlyfsTer7) n.5338dup | ClinVar dbSNP |
| 13 | g.32339693_32339696del | CA1139770782 | BRCA2 | c.5338_5341del (p.Glu1780IlefsTer10) c.4969_4972del (p.Glu1657IlefsTer10) n.5338_5341del | |
| 13 | g.32339695_32339697del | CA2622600599 | BRCA2 | c.5340_5342del (p.Glu1780del) c.4971_4973del (p.Glu1657del) n.5340_5342del | gnomAD v4 |
| 13 | g.32339693_32339699del | CA2727931026 | BRCA2 | c.5338_5344del (p.Glu1780LysfsTer9) c.4969_4975del (p.Glu1657LysfsTer9) n.5338_5344del | dbSNP |
| 13 | g.32339694A>C | CA387784962 | BRCA2 | c.5339A>C (p.Glu1780Ala) c.4970A>C (p.Glu1657Ala) n.5339A>C | |
| 13 | g.32339694A>G | CA387784964 | BRCA2 | c.5339A>G (p.Glu1780Gly) c.4970A>G (p.Glu1657Gly) n.5339A>G | dbSNP |
| 13 | g.32339694A>T | CA387784965 | BRCA2 | c.5339A>T (p.Glu1780Val) c.4970A>T (p.Glu1657Val) n.5339A>T | dbSNP |
| 13 | g.32339695A= | CA2082822082 | BRCA2 | c.5340A= (p.Glu1780=) c.4971A= (p.Glu1657=) n.5340A= | |
| 13 | g.32339695A>C | CA387784967 | BRCA2 | c.5340A>C (p.Glu1780Asp) c.4971A>C (p.Glu1657Asp) n.5340A>C | |
| 13 | g.32339695A>G | CA483438624 | BRCA2 | c.5340A>G (p.Glu1780=) c.4971A>G (p.Glu1657=) n.5340A>G | ClinVar dbSNP |
| 13 | g.32339695A>T | CA387784968 | BRCA2 | c.5340A>T (p.Glu1780Asp) c.4971A>T (p.Glu1657Asp) n.5340A>T | dbSNP |
| 13 | g.32339696G>A | CA022039 | BRCA2 | c.5341G>A (p.Asp1781Asn) c.4972G>A (p.Asp1658Asn) n.5341G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339696G>C | CA387784970 | BRCA2 | c.5341G>C (p.Asp1781His) c.4972G>C (p.Asp1658His) n.5341G>C | dbSNP |
| 13 | g.32339696G= | CA2082822097 | BRCA2 | c.5341G= (p.Asp1781=) c.4972G= (p.Asp1658=) n.5341G= | |
| 13 | g.32339696G>T | CA387784973 | BRCA2 | c.5341G>T (p.Asp1781Tyr) c.4972G>T (p.Asp1658Tyr) n.5341G>T | dbSNP |
| 13 | g.32339697A= | CA2082822108 | BRCA2 | c.5342A= (p.Asp1781=) c.4973A= (p.Asp1658=) n.5342A= | |
| 13 | g.32339697A>C | CA387784977 | BRCA2 | c.5342A>C (p.Asp1781Ala) c.4973A>C (p.Asp1658Ala) n.5342A>C | |
| 13 | g.32339697A>G | CA022044 | BRCA2 | c.5342A>G (p.Asp1781Gly) c.4973A>G (p.Asp1658Gly) n.5342A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339697A>T | CA387784980 | BRCA2 | c.5342A>T (p.Asp1781Val) c.4973A>T (p.Asp1658Val) n.5342A>T | dbSNP |
| 13 | g.32339697dup | CA658823648 | BRCA2 | c.5342dup (p.Asp1781GlufsTer6) c.4973dup (p.Asp1658GlufsTer6) n.5342dup | ClinVar dbSNP |
| 13 | g.32339698T>A | CA6940867 | BRCA2 | c.5343T>A (p.Asp1781Glu) c.4974T>A (p.Asp1658Glu) n.5343T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339698T>C | CA483438626 | BRCA2 | c.5343T>C (p.Asp1781=) c.4974T>C (p.Asp1658=) n.5343T>C | |
| 13 | g.32339698T>G | CA387784983 | BRCA2 | c.5343T>G (p.Asp1781Glu) c.4974T>G (p.Asp1658Glu) n.5343T>G | |
| 13 | g.32339698T= | CA2082822122 | BRCA2 | c.5343T= (p.Asp1781=) c.4974T= (p.Asp1658=) n.5343T= | |
| 13 | g.32339698_32339699delinsTC | CA2082822127 | BRCA2 | c.5343_5344delinsTC (p.Asp1781=) c.4974_4975delinsTC (p.Asp1658=) n.5343_5344delinsTC | |
| 13 | g.32339698_32339700delinsTCA | CA2082822119 | BRCA2 | c.5343_5345delinsTCA (p.Asp1781=) c.4974_4976delinsTCA (p.Asp1658=) n.5343_5345delinsTCA | |
| 13 | g.32339698_32339699insA | CA022051 | BRCA2 | c.5343_5344insA (p.Gln1782ThrfsTer5) c.4974_4975insA (p.Gln1659ThrfsTer5) n.5343_5344insA | ClinVar dbSNP |
| 13 | g.32339699del | CA658823649 | BRCA2 | c.5344del (p.Gln1782LysfsTer9) c.4975del (p.Gln1659LysfsTer9) n.5344del | ClinVar dbSNP |
| 13 | g.32339699C>A | CA022062 | BRCA2 | c.5344C>A (p.Gln1782Lys) c.4975C>A (p.Gln1659Lys) n.5344C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339699C= | CA2082822149 | BRCA2 | c.5344C= (p.Gln1782=) c.4975C= (p.Gln1659=) n.5344C= | |
| 13 | g.32339699C>G | CA022069 | BRCA2 | c.5344C>G (p.Gln1782Glu) c.4975C>G (p.Gln1659Glu) n.5344C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339699C>T | CA022075 | BRCA2 | c.5344C>T (p.Gln1782Ter) c.4975C>T (p.Gln1659Ter) n.5344C>T | ClinVar dbSNP |
| 13 | g.32339699_32339700del | CA022055 | BRCA2 | c.5344_5345del (p.Gln1782LysfsTer4) c.4975_4976del (p.Gln1659LysfsTer4) n.5344_5345del | ClinVar dbSNP |
| 13 | g.32339699_32339702delinsCAAA | CA2082822146 | BRCA2 | c.5344_5347delinsCAAA (p.Gln1782=) c.4975_4978delinsCAAA (p.Gln1659=) n.5344_5347delinsCAAA | |
| 13 | g.32339700A= | CA2082822198 | BRCA2 | c.5345A= (p.Gln1782=) c.4976A= (p.Gln1659=) n.5345A= | |
| 13 | g.32339700A>C | CA022082 | BRCA2 | c.5345A>C (p.Gln1782Pro) c.4976A>C (p.Gln1659Pro) n.5345A>C | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32339700A>G | CA10575922 | BRCA2 | c.5345A>G (p.Gln1782Arg) c.4976A>G (p.Gln1659Arg) n.5345A>G | ClinVar dbSNP |
| 13 | g.32339700A>T | CA387785006 | BRCA2 | c.5345A>T (p.Gln1782Leu) c.4976A>T (p.Gln1659Leu) n.5345A>T | |
| 13 | g.32339706dup | CA022104 | BRCA2 | c.5351dup (p.Asn1784LysfsTer3) c.4982dup (p.Asn1661LysfsTer3) n.5351dup | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 13 | g.32339705_32339706dup | CA10589310 | BRCA2 | c.5350_5351dup (p.Asn1784LysfsTer8) c.4981_4982dup (p.Asn1661LysfsTer8) n.5350_5351dup | ClinVar dbSNP |
| 13 | g.32339706del | CA022110 | BRCA2 | c.5351del (p.Asn1784ThrfsTer7) c.4982del (p.Asn1661ThrfsTer7) n.5351del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |