| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339505_32339581delinsTACTTAATACTTATTAAGTATTA | CA2499222187 | BRCA2 | c.5150_5226delinsTACTTAATACTTATTAAGTATTA (p.Glu1717ValfsTer6) c.4781_4857delinsTACTTAATACTTATTAAGTATTA (p.Glu1594ValfsTer6) n.5150_5226delinsTACTTAATACTTATTAAGTATTA | ClinVar dbSNP |
| 13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339555_32339560delinsGAAAAA | CA2082820160 | BRCA2 | c.5200_5205delinsGAAAAA (p.Glu1734=) c.4831_4836delinsGAAAAA (p.Glu1611=) n.5200_5205delinsGAAAAA | |
| 13 | g.32339556_32339560delinsGAAAAG | CA645509350 | BRCA2 | c.5201_5205delinsGAAAAG (p.Glu1734GlyfsTer9) c.4832_4836delinsGAAAAG (p.Glu1611GlyfsTer9) n.5201_5205delinsGAAAAG | ClinVar dbSNP |
| 13 | g.32339560dup | CA658656382 | BRCA2 | c.5205dup (p.Gln1736ThrfsTer7) c.4836dup (p.Gln1613ThrfsTer7) n.5205dup | ClinVar dbSNP |
| 13 | g.32339560del | CA10589296 | BRCA2 | c.5205del (p.Lys1735AsnfsTer6) c.4836del (p.Lys1612AsnfsTer6) n.5205del | ClinVar dbSNP |
| 13 | g.32339557_32339561delinsAAAAC | CA2082820189 | BRCA2 | c.5202_5206delinsAAAAC (p.Glu1734=) c.4833_4837delinsAAAAC (p.Glu1611=) n.5202_5206delinsAAAAC | |
| 13 | g.32339558A>C | CA387784596 | BRCA2 | c.5203A>C (p.Lys1735Gln) c.4834A>C (p.Lys1612Gln) n.5203A>C | |
| 13 | g.32339558A>G | CA387784598 | BRCA2 | c.5203A>G (p.Lys1735Glu) c.4834A>G (p.Lys1612Glu) n.5203A>G | dbSNP |
| 13 | g.32339558A>T | CA387784597 | BRCA2 | c.5203A>T (p.Lys1735Ter) c.4834A>T (p.Lys1612Ter) n.5203A>T | dbSNP |
| 13 | g.32339560_32339563del | CA10589295 | BRCA2 | c.5205_5208del (p.Gln1736IlefsTer4) c.4836_4839del (p.Gln1613IlefsTer4) n.5205_5208del | ClinVar dbSNP |
| 13 | g.32339559A>C | CA387784599 | BRCA2 | c.5204A>C (p.Lys1735Thr) c.4835A>C (p.Lys1612Thr) n.5204A>C | |
| 13 | g.32339559A>G | CA387784600 | BRCA2 | c.5204A>G (p.Lys1735Arg) c.4835A>G (p.Lys1612Arg) n.5204A>G | dbSNP |
| 13 | g.32339559A>T | CA387784601 | BRCA2 | c.5204A>T (p.Lys1735Ile) c.4835A>T (p.Lys1612Ile) n.5204A>T | dbSNP |
| 13 | g.32339560A= | CA2082820212 | BRCA2 | c.5205A= (p.Lys1735=) c.4836A= (p.Lys1612=) n.5205A= | |
| 13 | g.32339560A>C | CA387784602 | BRCA2 | c.5205A>C (p.Lys1735Asn) c.4836A>C (p.Lys1612Asn) n.5205A>C | dbSNP |
| 13 | g.32339560A>G | CA483438373 | BRCA2 | c.5205A>G (p.Lys1735=) c.4836A>G (p.Lys1612=) n.5205A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339560A>T | CA387784603 | BRCA2 | c.5205A>T (p.Lys1735Asn) c.4836A>T (p.Lys1612Asn) n.5205A>T | ClinVar dbSNP |
| 13 | g.32339561_32339562del | CA2697551795 | BRCA2 | c.5206_5207del (p.Gln1736ArgfsTer6) c.4837_4838del (p.Gln1613ArgfsTer6) n.5206_5207del | ClinVar |
| 13 | g.32339561C>A | CA387784604 | BRCA2 | c.5206C>A (p.Gln1736Lys) c.4837C>A (p.Gln1613Lys) n.5206C>A | dbSNP |
| 13 | g.32339561C= | CA2082820226 | BRCA2 | c.5206C= (p.Gln1736=) c.4837C= (p.Gln1613=) n.5206C= | |
| 13 | g.32339561C>G | CA387784605 | BRCA2 | c.5206C>G (p.Gln1736Glu) c.4837C>G (p.Gln1613Glu) n.5206C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339561C>T | CA10575921 | BRCA2 | c.5206C>T (p.Gln1736Ter) c.4837C>T (p.Gln1613Ter) n.5206C>T | ClinVar dbSNP |
| 13 | g.32339561_32339562delinsCA | CA2082820224 | BRCA2 | c.5206_5207delinsCA (p.Gln1736=) c.4837_4838delinsCA (p.Gln1613=) n.5206_5207delinsCA | |
| 13 | g.32339561_32339563delinsCAA | CA2082820221 | BRCA2 | c.5206_5208delinsCAA (p.Gln1736=) c.4837_4839delinsCAA (p.Gln1613=) n.5206_5208delinsCAA | |
| 13 | g.32339562A= | CA2082820256 | BRCA2 | c.5207A= (p.Gln1736=) c.4838A= (p.Gln1613=) n.5207A= | |
| 13 | g.32339562A>C | CA387784608 | BRCA2 | c.5207A>C (p.Gln1736Pro) c.4838A>C (p.Gln1613Pro) n.5207A>C | ClinVar dbSNP |
| 13 | g.32339562A>G | CA387784607 | BRCA2 | c.5207A>G (p.Gln1736Arg) c.4838A>G (p.Gln1613Arg) n.5207A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339562A>T | CA387784606 | BRCA2 | c.5207A>T (p.Gln1736Leu) c.4838A>T (p.Gln1613Leu) n.5207A>T | dbSNP |
| 13 | g.32339562_32339563del | CA021686 | BRCA2 | c.5207_5208del (p.Gln1736ArgfsTer6) c.4838_4839del (p.Gln1613ArgfsTer6) n.5207_5208del | ClinVar dbSNP |
| 13 | g.32339563del | CA021689 | BRCA2 | c.5208del (p.Asp1737IlefsTer4) c.4839del (p.Asp1614IlefsTer4) n.5208del | ClinVar dbSNP |
| 13 | g.32339564_32339628dup | CA915948485 | BRCA2 | c.5209_5273dup (p.Asn1758LysfsTer5) c.4840_4904dup (p.Asn1635LysfsTer5) n.5209_5273dup | ClinVar dbSNP |
| 13 | g.32339563A= | CA2082820271 | BRCA2 | c.5208A= (p.Gln1736=) c.4839A= (p.Gln1613=) n.5208A= | |
| 13 | g.32339563A>C | CA387784609 | BRCA2 | c.5208A>C (p.Gln1736His) c.4839A>C (p.Gln1613His) n.5208A>C | |
| 13 | g.32339563A>G | CA483438377 | BRCA2 | c.5208A>G (p.Gln1736=) c.4839A>G (p.Gln1613=) n.5208A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339563A>T | CA387784610 | BRCA2 | c.5208A>T (p.Gln1736His) c.4839A>T (p.Gln1613His) n.5208A>T | dbSNP |
| 13 | g.32339564del | CA2697551796 | BRCA2 | c.5209del (p.Asp1737IlefsTer4) c.4840del (p.Asp1614IlefsTer4) n.5209del | ClinVar |
| 13 | g.32339564G>A | CA387784611 | BRCA2 | c.5209G>A (p.Asp1737Asn) c.4840G>A (p.Asp1614Asn) n.5209G>A | ClinVar dbSNP |
| 13 | g.32339564G>C | CA387784613 | BRCA2 | c.5209G>C (p.Asp1737His) c.4840G>C (p.Asp1614His) n.5209G>C | dbSNP |
| 13 | g.32339564G= | CA2082820286 | BRCA2 | c.5209G= (p.Asp1737=) c.4840G= (p.Asp1614=) n.5209G= | |
| 13 | g.32339564G>T | CA387784612 | BRCA2 | c.5209G>T (p.Asp1737Tyr) c.4840G>T (p.Asp1614Tyr) n.5209G>T | ClinVar dbSNP |
| 13 | g.32339565A= | CA2082820309 | BRCA2 | c.5210A= (p.Asp1737=) c.4841A= (p.Asp1614=) n.5210A= | |
| 13 | g.32339565A>C | CA387784614 | BRCA2 | c.5210A>C (p.Asp1737Ala) c.4841A>C (p.Asp1614Ala) n.5210A>C | |
| 13 | g.32339565A>G | CA387784615 | BRCA2 | c.5210A>G (p.Asp1737Gly) c.4841A>G (p.Asp1614Gly) n.5210A>G | ClinVar dbSNP |
| 13 | g.32339565A>T | CA021701 | BRCA2 | c.5210A>T (p.Asp1737Val) c.4841A>T (p.Asp1614Val) n.5210A>T | ClinVar dbSNP |
| 13 | g.32339565_32339569delinsATACT | CA2082820308 | BRCA2 | c.5210_5214delinsATACT (p.Asp1737=) c.4841_4845delinsATACT (p.Asp1614=) n.5210_5214delinsATACT | |
| 13 | g.32339566T>A | CA387784616 | BRCA2 | c.5211T>A (p.Asp1737Glu) c.4842T>A (p.Asp1614Glu) n.5211T>A | ClinVar dbSNP |
| 13 | g.32339566T>C | CA483438386 | BRCA2 | c.5211T>C (p.Asp1737=) c.4842T>C (p.Asp1614=) n.5211T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339566T>G | CA387784617 | BRCA2 | c.5211T>G (p.Asp1737Glu) c.4842T>G (p.Asp1614Glu) n.5211T>G | |
| 13 | g.32339566T= | CA2082820326 | BRCA2 | c.5211T= (p.Asp1737=) c.4842T= (p.Asp1614=) n.5211T= |