| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
| 13 | g.32340649_32340650insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT | CA2573149409 | BRCA2 | c.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT (p.Arg2099GlnfsTer12) c.5925_5926insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT (p.Arg1976GlnfsTer12) n.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT | ClinVar dbSNP |
| 13 | g.32340475A= | CA2082810581 | BRCA2 | c.6120A= (p.Ile2040=) c.5751A= (p.Ile1917=) n.6120A= | |
| 13 | g.32340475A>C | CA10579680 | BRCA2 | c.6120A>C (p.Ile2040=) c.5751A>C (p.Ile1917=) n.6120A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340475A>G | CA023674 | BRCA2 | c.6120A>G (p.Ile2040Met) c.5751A>G (p.Ile1917Met) n.6120A>G | ClinVar dbSNP |
| 13 | g.32340475A>T | CA483439197 | BRCA2 | c.6120A>T (p.Ile2040=) c.5751A>T (p.Ile1917=) n.6120A>T | dbSNP |
| 13 | g.32340476T>A | CA387788163 | BRCA2 | c.6121T>A (p.Ser2041Thr) c.5752T>A (p.Ser1918Thr) n.6121T>A | ClinVar dbSNP |
| 13 | g.32340476T>C | CA387788165 | BRCA2 | c.6121T>C (p.Ser2041Pro) c.5752T>C (p.Ser1918Pro) n.6121T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340476T>G | CA387788166 | BRCA2 | c.6121T>G (p.Ser2041Ala) c.5752T>G (p.Ser1918Ala) n.6121T>G | |
| 13 | g.32340476T= | CA2082810593 | BRCA2 | c.6121T= (p.Ser2041=) c.5752T= (p.Ser1918=) n.6121T= | |
| 13 | g.32340476dup | CA2580087787 | BRCA2 | c.6121dup (p.Ser2041PhefsTer8) c.5752dup (p.Ser1918PhefsTer8) n.6121dup | ClinVar |
| 13 | g.32340477C>A | CA387788169 | BRCA2 | c.6122C>A (p.Ser2041Tyr) c.5753C>A (p.Ser1918Tyr) n.6122C>A | dbSNP |
| 13 | g.32340477C>G | CA387788171 | BRCA2 | c.6122C>G (p.Ser2041Cys) c.5753C>G (p.Ser1918Cys) n.6122C>G | dbSNP |
| 13 | g.32340477C>T | CA387788173 | BRCA2 | c.6122C>T (p.Ser2041Phe) c.5753C>T (p.Ser1918Phe) n.6122C>T | ClinVar dbSNP |
| 13 | g.32340479del | CA2727921538 | BRCA2 | c.6124del (p.Gln2042LysfsTer9) c.5755del (p.Gln1919LysfsTer9) n.6124del | dbSNP |
| 13 | g.32340478C>A | CA483439201 | BRCA2 | c.6123C>A (p.Ser2041=) c.5754C>A (p.Ser1918=) n.6123C>A | dbSNP |
| 13 | g.32340478C= | CA2082810607 | BRCA2 | c.6123C= (p.Ser2041=) c.5754C= (p.Ser1918=) n.6123C= | |
| 13 | g.32340478C>G | CA483439200 | BRCA2 | c.6123C>G (p.Ser2041=) c.5754C>G (p.Ser1918=) n.6123C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340478C>T | CA483439199 | BRCA2 | c.6123C>T (p.Ser2041=) c.5754C>T (p.Ser1918=) n.6123C>T | dbSNP |
| 13 | g.32340479C>A | CA387788175 | BRCA2 | c.6124C>A (p.Gln2042Lys) c.5755C>A (p.Gln1919Lys) n.6124C>A | gnomAD v4 |
| 13 | g.32340479C= | CA2082810618 | BRCA2 | c.6124C= (p.Gln2042=) c.5755C= (p.Gln1919=) n.6124C= | |
| 13 | g.32340479C>G | CA387788177 | BRCA2 | c.6124C>G (p.Gln2042Glu) c.5755C>G (p.Gln1919Glu) n.6124C>G | |
| 13 | g.32340479C>T | CA023676 | BRCA2 | c.6124C>T (p.Gln2042Ter) c.5755C>T (p.Gln1919Ter) n.6124C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340479_32340480delinsCA | CA2082810622 | BRCA2 | c.6124_6125delinsCA (p.Gln2042=) c.5755_5756delinsCA (p.Gln1919=) n.6124_6125delinsCA | |
| 13 | g.32340480A= | CA2082810653 | BRCA2 | c.6125A= (p.Gln2042=) c.5756A= (p.Gln1919=) n.6125A= | |
| 13 | g.32340480A>C | CA023678 | BRCA2 | c.6125A>C (p.Gln2042Pro) c.5756A>C (p.Gln1919Pro) n.6125A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340480A>G | CA023680 | BRCA2 | c.6125A>G (p.Gln2042Arg) c.5756A>G (p.Gln1919Arg) n.6125A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340480A>T | CA10577478 | BRCA2 | c.6125A>T (p.Gln2042Leu) c.5756A>T (p.Gln1919Leu) n.6125A>T | ClinVar dbSNP |
| 13 | g.32340484dup | CA023682 | BRCA2 | c.6129dup (p.Gly2044ArgfsTer5) c.5760dup (p.Gly1921ArgfsTer5) n.6129dup | ClinVar dbSNP |
| 13 | g.32340484del | CA10589355 | BRCA2 | c.6129del (p.Gly2044AlafsTer7) c.5760del (p.Gly1921AlafsTer7) n.6129del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32340481A= | CA2082810659 | BRCA2 | c.6126A= (p.Gln2042=) c.5757A= (p.Gln1919=) n.6126A= | |
| 13 | g.32340481A>C | CA387788184 | BRCA2 | c.6126A>C (p.Gln2042His) c.5757A>C (p.Gln1919His) n.6126A>C | |
| 13 | g.32340481A>G | CA483439205 | BRCA2 | c.6126A>G (p.Gln2042=) c.5757A>G (p.Gln1919=) n.6126A>G | ClinVar dbSNP |
| 13 | g.32340481A>T | CA387788185 | BRCA2 | c.6126A>T (p.Gln2042His) c.5757A>T (p.Gln1919His) n.6126A>T | ClinVar dbSNP |
| 13 | g.32340482A>C | CA387788191 | BRCA2 | c.6127A>C (p.Lys2043Gln) c.5758A>C (p.Lys1920Gln) n.6127A>C | |
| 13 | g.32340482A>G | CA387788187 | BRCA2 | c.6127A>G (p.Lys2043Glu) c.5758A>G (p.Lys1920Glu) n.6127A>G | ClinVar dbSNP |
| 13 | g.32340482A>T | CA387788189 | BRCA2 | c.6127A>T (p.Lys2043Ter) c.5758A>T (p.Lys1920Ter) n.6127A>T | dbSNP |
| 13 | g.32340483A>C | CA387788193 | BRCA2 | c.6128A>C (p.Lys2043Thr) c.5759A>C (p.Lys1920Thr) n.6128A>C | ClinVar |
| 13 | g.32340483A>G | CA387788195 | BRCA2 | c.6128A>G (p.Lys2043Arg) c.5759A>G (p.Lys1920Arg) n.6128A>G | dbSNP |
| 13 | g.32340483A>T | CA387788196 | BRCA2 | c.6128A>T (p.Lys2043Ile) c.5759A>T (p.Lys1920Ile) n.6128A>T | dbSNP |
| 13 | g.32340484A>C | CA387788198 | BRCA2 | c.6129A>C (p.Lys2043Asn) c.5760A>C (p.Lys1920Asn) n.6129A>C | |
| 13 | g.32340484A>G | CA483439207 | BRCA2 | c.6129A>G (p.Lys2043=) c.5760A>G (p.Lys1920=) n.6129A>G | dbSNP |
| 13 | g.32340484A>T | CA387788200 | BRCA2 | c.6129A>T (p.Lys2043Asn) c.5760A>T (p.Lys1920Asn) n.6129A>T | ClinVar dbSNP |
| 13 | g.32340485G>A | CA387788202 | BRCA2 | c.6130G>A (p.Gly2044Ser) c.5761G>A (p.Gly1921Ser) n.6130G>A | ClinVar dbSNP |
| 13 | g.32340485G>C | CA387788204 | BRCA2 | c.6130G>C (p.Gly2044Arg) c.5761G>C (p.Gly1921Arg) n.6130G>C | ClinVar dbSNP |
| 13 | g.32340485G= | CA2082810672 | BRCA2 | c.6130G= (p.Gly2044=) c.5761G= (p.Gly1921=) n.6130G= | |
| 13 | g.32340485G>T | CA387788206 | BRCA2 | c.6130G>T (p.Gly2044Cys) c.5761G>T (p.Gly1921Cys) n.6130G>T | dbSNP |
| 13 | g.32340486G>A | CA387788208 | BRCA2 | c.6131G>A (p.Gly2044Asp) c.5762G>A (p.Gly1921Asp) n.6131G>A | ClinVar dbSNP |
| 13 | g.32340486G>C | CA023684 | BRCA2 | c.6131G>C (p.Gly2044Ala) c.5762G>C (p.Gly1921Ala) n.6131G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |