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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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.32340473A= | CA2082810549 | BRCA2 | c.6118A= (p.Ile2040=) c.5749A= (p.Ile1917=) n.6118A= | |
| 13 | g.32340473A>C | CA387788155 | BRCA2 | c.6118A>C (p.Ile2040Leu) c.5749A>C (p.Ile1917Leu) n.6118A>C | |
| 13 | g.32340473A>G | CA023670 | BRCA2 | c.6118A>G (p.Ile2040Val) c.5749A>G (p.Ile1917Val) n.6118A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340473A>T | CA023672 | BRCA2 | c.6118A>T (p.Ile2040Leu) c.5749A>T (p.Ile1917Leu) n.6118A>T | ClinVar dbSNP |
| 13 | g.32340474T>A | CA387788159 | BRCA2 | c.6119T>A (p.Ile2040Lys) c.5750T>A (p.Ile1917Lys) n.6119T>A | dbSNP |
| 13 | g.32340474T>C | CA10579679 | BRCA2 | c.6119T>C (p.Ile2040Thr) c.5750T>C (p.Ile1917Thr) n.6119T>C | ClinVar dbSNP |
| 13 | g.32340474T>G | CA387788160 | BRCA2 | c.6119T>G (p.Ile2040Arg) c.5750T>G (p.Ile1917Arg) n.6119T>G | |
| 13 | g.32340474T= | CA2082810562 | BRCA2 | c.6119T= (p.Ile2040=) c.5750T= (p.Ile1917=) n.6119T= | |
| 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 |
| 13 | g.32340486G= | CA2082810686 | BRCA2 | c.6131G= (p.Gly2044=) c.5762G= (p.Gly1921=) n.6131G= | |
| 13 | g.32340486G>T | CA023686 | BRCA2 | c.6131G>T (p.Gly2044Val) c.5762G>T (p.Gly1921Val) n.6131G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340487C>A | CA16606689 | BRCA2 | c.6132C>A (p.Gly2044=) c.5763C>A (p.Gly1921=) n.6132C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340487C= | CA2082810701 | BRCA2 | c.6132C= (p.Gly2044=) c.5763C= (p.Gly1921=) n.6132C= | |
| 13 | g.32340487C>G | CA483439211 | BRCA2 | c.6132C>G (p.Gly2044=) c.5763C>G (p.Gly1921=) n.6132C>G | dbSNP |
| 13 | g.32340487C>T | CA483439212 | BRCA2 | c.6132C>T (p.Gly2044=) c.5763C>T (p.Gly1921=) n.6132C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340487_32340488delinsCT | CA2082810705 | BRCA2 | c.6132_6133delinsCT (p.Gly2044=) c.5763_5764delinsCT (p.Gly1921=) n.6132_6133delinsCT | |
| 13 | g.32340488T>A | CA387788210 | BRCA2 | c.6133T>A (p.Phe2045Ile) c.5764T>A (p.Phe1922Ile) n.6133T>A | dbSNP |
| 13 | g.32340488T>C | CA387788212 | BRCA2 | c.6133T>C (p.Phe2045Leu) c.5764T>C (p.Phe1922Leu) n.6133T>C | dbSNP |
| 13 | g.32340488T>G | CA387788214 | BRCA2 | c.6133T>G (p.Phe2045Val) c.5764T>G (p.Phe1922Val) n.6133T>G | dbSNP |
| 13 | g.32340488T= | CA2082810739 | BRCA2 | c.6133T= (p.Phe2045=) c.5764T= (p.Phe1922=) n.6133T= | |
| 13 | g.32340491dup | CA2580087788 | BRCA2 | c.6136dup (p.Ser2046PhefsTer3) c.5767dup (p.Ser1923PhefsTer3) n.6136dup | ClinVar |
| 13 | g.32340491del | CA10586552 | BRCA2 | c.6136del (p.Ser2046HisfsTer5) c.5767del (p.Ser1923HisfsTer5) n.6136del | ClinVar dbSNP |
| 13 | g.32340489T>A | CA387788217 | BRCA2 | c.6134T>A (p.Phe2045Tyr) c.5765T>A (p.Phe1922Tyr) n.6134T>A | dbSNP |
| 13 | g.32340489T>C | CA387788219 | BRCA2 | c.6134T>C (p.Phe2045Ser) c.5765T>C (p.Phe1922Ser) n.6134T>C | |
| 13 | g.32340489T>G | CA387788221 | BRCA2 | c.6134T>G (p.Phe2045Cys) c.5765T>G (p.Phe1922Cys) n.6134T>G | |
| 13 | g.32340490_32340494del | CA2582341809 | BRCA2 | c.6135_6139del (p.Phe2045LeufsTer2) c.5766_5770del (p.Phe1922LeufsTer2) n.6135_6139del | ClinVar |
| 13 | g.32340490T>A | CA387788223 | BRCA2 | c.6135T>A (p.Phe2045Leu) c.5766T>A (p.Phe1922Leu) n.6135T>A | dbSNP |
| 13 | g.32340490T>C | CA483439217 | BRCA2 | c.6135T>C (p.Phe2045=) c.5766T>C (p.Phe1922=) n.6135T>C | |
| 13 | g.32340490T>G | CA387788224 | BRCA2 | c.6135T>G (p.Phe2045Leu) c.5766T>G (p.Phe1922Leu) n.6135T>G | |
| 13 | g.32340491T>A | CA387788225 | BRCA2 | c.6136T>A (p.Ser2046Thr) c.5767T>A (p.Ser1923Thr) n.6136T>A | dbSNP |
| 13 | g.32340491T>C | CA387788227 | BRCA2 | c.6136T>C (p.Ser2046Pro) c.5767T>C (p.Ser1923Pro) n.6136T>C | |
| 13 | g.32340491T>G | CA387788228 | BRCA2 | c.6136T>G (p.Ser2046Ala) c.5767T>G (p.Ser1923Ala) n.6136T>G | |
| 13 | g.32340491_32340493delinsTCA | CA2082810751 | BRCA2 | c.6136_6138delinsTCA (p.Ser2046=) c.5767_5769delinsTCA (p.Ser1923=) n.6136_6138delinsTCA | |
| 13 | g.32340492C>A | CA387788233 | BRCA2 | c.6137C>A (p.Ser2046Ter) c.5768C>A (p.Ser1923Ter) n.6137C>A | |
| 13 | g.32340492C= | CA2082810765 | BRCA2 | c.6137C= (p.Ser2046=) c.5768C= (p.Ser1923=) n.6137C= | |
| 13 | g.32340492C>G | CA387788234 | BRCA2 | c.6137C>G (p.Ser2046Ter) c.5768C>G (p.Ser1923Ter) n.6137C>G | ClinVar dbSNP |
| 13 | g.32340492C>T | CA387788231 | BRCA2 | c.6137C>T (p.Ser2046Leu) c.5768C>T (p.Ser1923Leu) n.6137C>T | ClinVar dbSNP |
| 13 | g.32340492_32340493del | CA10589356 | BRCA2 | c.6137_6138del (p.Ser2046LeufsTer2) c.5768_5769del (p.Ser1923LeufsTer2) n.6137_6138del | ClinVar dbSNP |
| 13 | g.32340493A= | CA2082810777 | BRCA2 | c.6138A= (p.Ser2046=) c.5769A= (p.Ser1923=) n.6138A= | |
| 13 | g.32340493A>C | CA483439222 | BRCA2 | c.6138A>C (p.Ser2046=) c.5769A>C (p.Ser1923=) n.6138A>C | |
| 13 | g.32340493A>G | CA483439224 | BRCA2 | c.6138A>G (p.Ser2046=) c.5769A>G (p.Ser1923=) n.6138A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340493A>T | CA483439225 | BRCA2 | c.6138A>T (p.Ser2046=) c.5769A>T (p.Ser1923=) n.6138A>T | dbSNP |
| 13 | g.32340494T>A | CA387788236 | BRCA2 | c.6139T>A (p.Tyr2047Asn) c.5770T>A (p.Tyr1924Asn) n.6139T>A | dbSNP |
| 13 | g.32340494T>C | CA387788238 | BRCA2 | c.6139T>C (p.Tyr2047His) c.5770T>C (p.Tyr1924His) n.6139T>C | ClinVar |
| 13 | g.32340494T>G | CA387788239 | BRCA2 | c.6139T>G (p.Tyr2047Asp) c.5770T>G (p.Tyr1924Asp) n.6139T>G | |
| 13 | g.32340495A= | CA2082810787 | BRCA2 | c.6140A= (p.Tyr2047=) c.5771A= (p.Tyr1924=) n.6140A= | |
| 13 | g.32340495A>C | CA387788241 | BRCA2 | c.6140A>C (p.Tyr2047Ser) c.5771A>C (p.Tyr1924Ser) n.6140A>C | dbSNP |
| 13 | g.32340495A>G | CA023691 | BRCA2 | c.6140A>G (p.Tyr2047Cys) c.5771A>G (p.Tyr1924Cys) n.6140A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340495A>T | CA387788243 | BRCA2 | c.6140A>T (p.Tyr2047Phe) c.5771A>T (p.Tyr1924Phe) n.6140A>T | dbSNP |
| 13 | g.32340495dup | CA2580087790 | BRCA2 | c.6140dup (p.Tyr2047Ter) c.5771dup (p.Tyr1924Ter) n.6140dup | ClinVar |
| 13 | g.32340497_32340499del | CA2580087789 | BRCA2 | c.6142_6144del (p.Asn2048del) c.5773_5775del (p.Asn1925del) n.6142_6144del | ClinVar |
| 13 | g.32340496T>A | CA387788245 | BRCA2 | c.6141T>A (p.Tyr2047Ter) c.5772T>A (p.Tyr1924Ter) n.6141T>A | ClinVar dbSNP |
| 13 | g.32340496T>C | CA483439229 | BRCA2 | c.6141T>C (p.Tyr2047=) c.5772T>C (p.Tyr1924=) n.6141T>C | ClinVar dbSNP |
| 13 | g.32340496T>G | CA387788246 | BRCA2 | c.6141T>G (p.Tyr2047Ter) c.5772T>G (p.Tyr1924Ter) n.6141T>G | ClinVar dbSNP |
| 13 | g.32340496T= | CA2082810797 | BRCA2 | c.6141T= (p.Tyr2047=) c.5772T= (p.Tyr1924=) n.6141T= | |
| 13 | g.32340496dup | CA2695217818 | BRCA2 | c.6141dup (p.Asn2048Ter) c.5772dup (p.Asn1925Ter) n.6141dup | |
| 13 | g.32340497A= | CA2082810811 | BRCA2 | c.6142A= (p.Asn2048=) c.5773A= (p.Asn1925=) n.6142A= | |
| 13 | g.32340497A>C | CA387788249 | BRCA2 | c.6142A>C (p.Asn2048His) c.5773A>C (p.Asn1925His) n.6142A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340497A>G | CA387788251 | BRCA2 | c.6142A>G (p.Asn2048Asp) c.5773A>G (p.Asn1925Asp) n.6142A>G | gnomAD v4 |
| 13 | g.32340497A>T | CA387788253 | BRCA2 | c.6142A>T (p.Asn2048Tyr) c.5773A>T (p.Asn1925Tyr) n.6142A>T | dbSNP |
| 13 | g.32340498A= | CA2082810842 | BRCA2 | c.6143A= (p.Asn2048=) c.5774A= (p.Asn1925=) n.6143A= | |
| 13 | g.32340498A>C | CA023693 | BRCA2 | c.6143A>C (p.Asn2048Thr) c.5774A>C (p.Asn1925Thr) n.6143A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340498A>G | CA387788255 | BRCA2 | c.6143A>G (p.Asn2048Ser) c.5774A>G (p.Asn1925Ser) n.6143A>G | ClinVar dbSNP |
| 13 | g.32340498A>T | CA023695 | BRCA2 | c.6143A>T (p.Asn2048Ile) c.5774A>T (p.Asn1925Ile) n.6143A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340499T>A | CA387788257 | BRCA2 | c.6144T>A (p.Asn2048Lys) c.5775T>A (p.Asn1925Lys) n.6144T>A | dbSNP |
| 13 | g.32340499T>C | CA483439236 | BRCA2 | c.6144T>C (p.Asn2048=) c.5775T>C (p.Asn1925=) n.6144T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340499T>G | CA023696 | BRCA2 | c.6144T>G (p.Asn2048Lys) c.5775T>G (p.Asn1925Lys) n.6144T>G | ClinVar dbSNP |
| 13 | g.32340499T= | CA2082810853 | BRCA2 | c.6144T= (p.Asn2048=) c.5775T= (p.Asn1925=) n.6144T= | |
| 13 | g.32340499_32340500delinsTG | CA2082810854 | BRCA2 | c.6144_6145delinsTG (p.Asn2048=) c.5775_5776delinsTG (p.Asn1925=) n.6144_6145delinsTG | |
| 13 | g.32340499_32340502delinsTGTG | CA2082810861 | BRCA2 | c.6144_6147delinsTGTG (p.Asn2048=) c.5775_5778delinsTGTG (p.Asn1925=) n.6144_6147delinsTGTG | |
| 13 | g.32340499_32340500insA | CA658823695 | BRCA2 | c.6144_6145insA (p.Val2049SerfsTer11) c.5775_5776insA (p.Val1926SerfsTer11) n.6144_6145insA | ClinVar dbSNP |
| 13 | g.32340500del | CA10589357 | BRCA2 | c.6145del (p.Val2049TrpfsTer2) c.5776del (p.Val1926TrpfsTer2) n.6145del | ClinVar dbSNP |
| 13 | g.32340500G>A | CA387788266 | BRCA2 | c.6145G>A (p.Val2049Met) c.5776G>A (p.Val1926Met) n.6145G>A | ClinVar dbSNP |
| 13 | g.32340500G>C | CA387788264 | BRCA2 | c.6145G>C (p.Val2049Leu) c.5776G>C (p.Val1926Leu) n.6145G>C | dbSNP |
| 13 | g.32340500G= | CA2082810889 | BRCA2 | c.6145G= (p.Val2049=) c.5776G= (p.Val1926=) n.6145G= | |
| 13 | g.32340500G>T | CA387788262 | BRCA2 | c.6145G>T (p.Val2049Leu) c.5776G>T (p.Val1926Leu) n.6145G>T | gnomAD v4 |
| 13 | g.32340502_32340504del | CA6940929 | BRCA2 | c.6147_6149del (p.Val2050del) c.5778_5780del (p.Val1927del) n.6147_6149del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340500_32340501insA | CA645372976 | BRCA2 | c.6145_6146insA (p.Val2049AspfsTer11) c.5776_5777insA (p.Val1926AspfsTer11) n.6145_6146insA | ClinVar dbSNP |
| 13 | g.32340501T>A | CA387788268 | BRCA2 | c.6146T>A (p.Val2049Glu) c.5777T>A (p.Val1926Glu) n.6146T>A | |
| 13 | g.32340501T>C | CA387788270 | BRCA2 | c.6146T>C (p.Val2049Ala) c.5777T>C (p.Val1926Ala) n.6146T>C | |
| 13 | g.32340501T>G | CA387788271 | BRCA2 | c.6146T>G (p.Val2049Gly) c.5777T>G (p.Val1926Gly) n.6146T>G | |
| 13 | g.32340502G>A | CA483439240 | BRCA2 | c.6147G>A (p.Val2049=) c.5778G>A (p.Val1926=) n.6147G>A | |
| 13 | g.32340502G>C | CA483439242 | BRCA2 | c.6147G>C (p.Val2049=) c.5778G>C (p.Val1926=) n.6147G>C | |
| 13 | g.32340502G= | CA2082810905 | BRCA2 | c.6147G= (p.Val2049=) c.5778G= (p.Val1926=) n.6147G= | |
| 13 | g.32340502G>T | CA483439244 | BRCA2 | c.6147G>T (p.Val2049=) c.5778G>T (p.Val1926=) n.6147G>T | ClinVar dbSNP |
| 13 | g.32340502_32340503insAA | CA658761206 | BRCA2 | c.6147_6148insAA (p.Val2050LysfsTer2) c.5778_5779insAA (p.Val1927LysfsTer2) n.6147_6148insAA | |
| 13 | g.32340503G>A | CA023698 | BRCA2 | c.6148G>A (p.Val2050Ile) c.5779G>A (p.Val1927Ile) n.6148G>A | ClinVar dbSNP |
| 13 | g.32340503G>C | CA387788274 | BRCA2 | c.6148G>C (p.Val2050Leu) c.5779G>C (p.Val1927Leu) n.6148G>C | dbSNP |
| 13 | g.32340503G= | CA2082810923 | BRCA2 | c.6148G= (p.Val2050=) c.5779G= (p.Val1927=) n.6148G= | |
| 13 | g.32340503G>T | CA387788275 | BRCA2 | c.6148G>T (p.Val2050Leu) c.5779G>T (p.Val1927Leu) n.6148G>T | ClinVar dbSNP |
| 13 | g.32340503_32340504insAA | CA2499222223 | BRCA2 | c.6148_6149insAA (p.Val2050GlufsTer2) c.5779_5780insAA (p.Val1927GlufsTer2) n.6148_6149insAA | |
| 13 | g.32340504T>A | CA387788280 | BRCA2 | c.6149T>A (p.Val2050Glu) c.5780T>A (p.Val1927Glu) n.6149T>A | |
| 13 | g.32340504T>C | CA387788278 | BRCA2 | c.6149T>C (p.Val2050Ala) c.5780T>C (p.Val1927Ala) n.6149T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340504T>G | CA6940930 | BRCA2 | c.6149T>G (p.Val2050Gly) c.5780T>G (p.Val1927Gly) n.6149T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340504T= | CA2082810941 | BRCA2 | c.6149T= (p.Val2050=) c.5780T= (p.Val1927=) n.6149T= | |
| 13 | g.32340504dup | CA658823698 | BRCA2 | c.6149dup (p.Asn2051LysfsTer9) c.5780dup (p.Asn1928LysfsTer9) n.6149dup | ClinVar dbSNP |
| 13 | g.32340504_32340506delinsTAA | CA2082810954 | BRCA2 | c.6149_6151delinsTAA (p.Val2050=) c.5780_5782delinsTAA (p.Val1927=) n.6149_6151delinsTAA | |
| 13 | g.32340505_32340508dup | CA2825002110 | BRCA2 | c.6150_6153dup (p.Ser2052LysfsTer9) c.5781_5784dup (p.Ser1929LysfsTer9) n.6150_6153dup | ClinVar |
| 13 | g.32340505_32340517del | CA2739277513 | BRCA2 | c.6150_6162del (p.Asn2051SerfsTer15) c.5781_5793del (p.Asn1928SerfsTer15) n.6150_6162del | ClinVar |
| 13 | g.32340505A= | CA2082810968 | BRCA2 | c.6150A= (p.Val2050=) c.5781A= (p.Val1927=) n.6150A= | |
| 13 | g.32340505A>C | CA483439251 | BRCA2 | c.6150A>C (p.Val2050=) c.5781A>C (p.Val1927=) n.6150A>C | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340505A>G | CA483439250 | BRCA2 | c.6150A>G (p.Val2050=) c.5781A>G (p.Val1927=) n.6150A>G | dbSNP |
| 13 | g.32340505A>T | CA483439249 | BRCA2 | c.6150A>T (p.Val2050=) c.5781A>T (p.Val1927=) n.6150A>T | dbSNP |
| 13 | g.32340507del | CA10586553 | BRCA2 | c.6152del (p.Asn2051IlefsTer19) c.5783del (p.Asn1928IlefsTer19) n.6152del | ClinVar dbSNP |
| 13 | g.32340506_32340507del | CA915948505 | BRCA2 | c.6151_6152del (p.Asn2051PhefsTer8) c.5782_5783del (p.Asn1928PhefsTer8) n.6151_6152del | ClinVar dbSNP |
| 13 | g.32340506A= | CA2082810974 | BRCA2 | c.6151A= (p.Asn2051=) c.5782A= (p.Asn1928=) n.6151A= | |
| 13 | g.32340506A>C | CA387788285 | BRCA2 | c.6151A>C (p.Asn2051His) c.5782A>C (p.Asn1928His) n.6151A>C | |
| 13 | g.32340506A>G | CA387788283 | BRCA2 | c.6151A>G (p.Asn2051Asp) c.5782A>G (p.Asn1928Asp) n.6151A>G | ClinVar dbSNP |
| 13 | g.32340506A>T | CA387788287 | BRCA2 | c.6151A>T (p.Asn2051Tyr) c.5782A>T (p.Asn1928Tyr) n.6151A>T | dbSNP |
| 13 | g.32340507A= | CA2082810983 | BRCA2 | c.6152A= (p.Asn2051=) c.5783A= (p.Asn1928=) n.6152A= | |
| 13 | g.32340507A>C | CA387788292 | BRCA2 | c.6152A>C (p.Asn2051Thr) c.5783A>C (p.Asn1928Thr) n.6152A>C | ClinVar dbSNP |
| 13 | g.32340507A>G | CA023700 | BRCA2 | c.6152A>G (p.Asn2051Ser) c.5783A>G (p.Asn1928Ser) n.6152A>G | ClinVar dbSNP |
| 13 | g.32340507A>T | CA387788290 | BRCA2 | c.6152A>T (p.Asn2051Ile) c.5783A>T (p.Asn1928Ile) n.6152A>T | dbSNP |
| 13 | g.32340507_32340508delinsAT | CA2082810982 | BRCA2 | c.6152_6153delinsAT (p.Asn2051=) c.5783_5784delinsAT (p.Asn1928=) n.6152_6153delinsAT | |
| 13 | g.32340508T>A | CA387788293 | BRCA2 | c.6153T>A (p.Asn2051Lys) c.5784T>A (p.Asn1928Lys) n.6153T>A | dbSNP |
| 13 | g.32340508T>C | CA483439259 | BRCA2 | c.6153T>C (p.Asn2051=) c.5784T>C (p.Asn1928=) n.6153T>C | ClinVar dbSNP |
| 13 | g.32340508T>G | CA387788295 | BRCA2 | c.6153T>G (p.Asn2051Lys) c.5784T>G (p.Asn1928Lys) n.6153T>G | |
| 13 | g.32340508T= | CA2082811002 | BRCA2 | c.6153T= (p.Asn2051=) c.5784T= (p.Asn1928=) n.6153T= | |
| 13 | g.32340509dup | CA913188533 | BRCA2 | c.6154dup (p.Ser2052PhefsTer8) c.5785dup (p.Ser1929PhefsTer8) n.6154dup | ClinVar dbSNP |
| 13 | g.32340509del | CA023702 | BRCA2 | c.6154del (p.Ser2052HisfsTer18) c.5785del (p.Ser1929HisfsTer18) n.6154del | ClinVar dbSNP |
| 13 | g.32340509T>A | CA387788298 | BRCA2 | c.6154T>A (p.Ser2052Thr) c.5785T>A (p.Ser1929Thr) n.6154T>A | ClinVar dbSNP |
| 13 | g.32340509T>C | CA387788300 | BRCA2 | c.6154T>C (p.Ser2052Pro) c.5785T>C (p.Ser1929Pro) n.6154T>C | |
| 13 | g.32340509T>G | CA387788302 | BRCA2 | c.6154T>G (p.Ser2052Ala) c.5785T>G (p.Ser1929Ala) n.6154T>G | ClinVar dbSNP |
| 13 | g.32340509T= | CA2082811017 | BRCA2 | c.6154T= (p.Ser2052=) c.5785T= (p.Ser1929=) n.6154T= | |
| 13 | g.32340509_32340510del | CA2580614700 | BRCA2 | c.6154_6155del (p.Ser2052IlefsTer7) c.5785_5786del (p.Ser1929IlefsTer7) n.6154_6155del | ClinVar |
| 13 | g.32340510C>A | CA023704 | BRCA2 | c.6155C>A (p.Ser2052Ter) c.5786C>A (p.Ser1929Ter) n.6155C>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340510C= | CA2082811046 | BRCA2 | c.6155C= (p.Ser2052=) c.5786C= (p.Ser1929=) n.6155C= | |
| 13 | g.32340510C>G | CA10589358 | BRCA2 | c.6155C>G (p.Ser2052Ter) c.5786C>G (p.Ser1929Ter) n.6155C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340510C>T | CA387788305 | BRCA2 | c.6155C>T (p.Ser2052Leu) c.5786C>T (p.Ser1929Leu) n.6155C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340510dup | CA891844241 | BRCA2 | c.6155dup (p.Ser2053IlefsTer7) c.5786dup (p.Ser1930IlefsTer7) n.6155dup | ClinVar dbSNP |
| 13 | g.32340511A= | CA2082811057 | BRCA2 | c.6156A= (p.Ser2052=) c.5787A= (p.Ser1929=) n.6156A= | |
| 13 | g.32340511A>C | CA483439265 | BRCA2 | c.6156A>C (p.Ser2052=) c.5787A>C (p.Ser1929=) n.6156A>C | dbSNP |
| 13 | g.32340511A>G | CA10579681 | BRCA2 | c.6156A>G (p.Ser2052=) c.5787A>G (p.Ser1929=) n.6156A>G | ClinVar dbSNP |
| 13 | g.32340511A>T | CA483439261 | BRCA2 | c.6156A>T (p.Ser2052=) c.5787A>T (p.Ser1929=) n.6156A>T | ClinVar dbSNP |
| 13 | g.32340512T>A | CA387788308 | BRCA2 | c.6157T>A (p.Ser2053Thr) c.5788T>A (p.Ser1930Thr) n.6157T>A | dbSNP |
| 13 | g.32340512T>C | CA6940931 | BRCA2 | c.6157T>C (p.Ser2053Pro) c.5788T>C (p.Ser1930Pro) n.6157T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340512T>G | CA387788309 | BRCA2 | c.6157T>G (p.Ser2053Ala) c.5788T>G (p.Ser1930Ala) n.6157T>G | |
| 13 | g.32340512T= | CA2082811070 | BRCA2 | c.6157T= (p.Ser2053=) c.5788T= (p.Ser1930=) n.6157T= | |
| 13 | g.32340513del | CA2695217819 | BRCA2 | c.6158del (p.Ser2053LeufsTer17) c.5789del (p.Ser1930LeufsTer17) n.6158del | |
| 13 | g.32340513C>A | CA387788311 | BRCA2 | c.6158C>A (p.Ser2053Tyr) c.5789C>A (p.Ser1930Tyr) n.6158C>A | ClinVar dbSNP |
| 13 | g.32340513C= | CA2082811076 | BRCA2 | c.6158C= (p.Ser2053=) c.5789C= (p.Ser1930=) n.6158C= | |
| 13 | g.32340513C>G | CA387788313 | BRCA2 | c.6158C>G (p.Ser2053Cys) c.5789C>G (p.Ser1930Cys) n.6158C>G | ClinVar dbSNP |
| 13 | g.32340513C>T | CA387788314 | BRCA2 | c.6158C>T (p.Ser2053Phe) c.5789C>T (p.Ser1930Phe) n.6158C>T | dbSNP |
| 13 | g.32340514T>A | CA483439270 | BRCA2 | c.6159T>A (p.Ser2053=) c.5790T>A (p.Ser1930=) n.6159T>A | ClinVar dbSNP |
| 13 | g.32340514T>C | CA483439271 | BRCA2 | c.6159T>C (p.Ser2053=) c.5790T>C (p.Ser1930=) n.6159T>C | dbSNP gnomAD v4 |
| 13 | g.32340514T>G | CA483439273 | BRCA2 | c.6159T>G (p.Ser2053=) c.5790T>G (p.Ser1930=) n.6159T>G | |
| 13 | g.32340514T= | CA2082811084 | BRCA2 | c.6159T= (p.Ser2053=) c.5790T= (p.Ser1930=) n.6159T= | |
| 13 | g.32340515G>A | CA023706 | BRCA2 | c.6160G>A (p.Ala2054Thr) c.5791G>A (p.Ala1931Thr) n.6160G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32340515G>C | CA023708 | BRCA2 | c.6160G>C (p.Ala2054Pro) c.5791G>C (p.Ala1931Pro) n.6160G>C | ClinVar dbSNP |
| 13 | g.32340515G= | CA2082811097 | BRCA2 | c.6160G= (p.Ala2054=) c.5791G= (p.Ala1931=) n.6160G= | |
| 13 | g.32340515G>T | CA387788318 | BRCA2 | c.6160G>T (p.Ala2054Ser) c.5791G>T (p.Ala1931Ser) n.6160G>T | dbSNP |
| 13 | g.32340515dup | CA919242647 | BRCA2 | c.6160dup (p.Ala2054GlyfsTer6) c.5791dup (p.Ala1931GlyfsTer6) n.6160dup | dbSNP |
| 13 | g.32340516C>A | CA387788320 | BRCA2 | c.6161C>A (p.Ala2054Asp) c.5792C>A (p.Ala1931Asp) n.6161C>A | dbSNP |
| 13 | g.32340516C>G | CA387788322 | BRCA2 | c.6161C>G (p.Ala2054Gly) c.5792C>G (p.Ala1931Gly) n.6161C>G | dbSNP |
| 13 | g.32340516C>T | CA387788324 | BRCA2 | c.6161C>T (p.Ala2054Val) c.5792C>T (p.Ala1931Val) n.6161C>T | dbSNP |
| 13 | g.32340516_32340517delinsCT | CA2082811104 | BRCA2 | c.6161_6162delinsCT (p.Ala2054=) c.5792_5793delinsCT (p.Ala1931=) n.6161_6162delinsCT | |
| 13 | g.32340516_32340517insG | CA2499222224 | BRCA2 | c.6161_6162insG (p.Ser2056LeufsTer4) c.5792_5793insG (p.Ser1933LeufsTer4) n.6161_6162insG | |
| 13 | g.32340517T>A | CA483439279 | BRCA2 | c.6162T>A (p.Ala2054=) c.5793T>A (p.Ala1931=) n.6162T>A | dbSNP |
| 13 | g.32340517T>C | CA483439280 | BRCA2 | c.6162T>C (p.Ala2054=) c.5793T>C (p.Ala1931=) n.6162T>C | dbSNP |
| 13 | g.32340517T>G | CA483439281 | BRCA2 | c.6162T>G (p.Ala2054=) c.5793T>G (p.Ala1931=) n.6162T>G | |
| 13 | g.32340519dup | CA645372977 | BRCA2 | c.6164dup (p.Ser2056LeufsTer4) c.5795dup (p.Ser1933LeufsTer4) n.6164dup | ClinVar dbSNP |
| 13 | g.32340519del | CA023710 | BRCA2 | c.6164del (p.Phe2055SerfsTer15) c.5795del (p.Phe1932SerfsTer15) n.6164del | ClinVar dbSNP |
| 13 | g.32340518T>A | CA387788329 | BRCA2 | c.6163T>A (p.Phe2055Ile) c.5794T>A (p.Phe1932Ile) n.6163T>A | dbSNP |
| 13 | g.32340518T>C | CA387788327 | BRCA2 | c.6163T>C (p.Phe2055Leu) c.5794T>C (p.Phe1932Leu) n.6163T>C | |
| 13 | g.32340518T>G | CA387788330 | BRCA2 | c.6163T>G (p.Phe2055Val) c.5794T>G (p.Phe1932Val) n.6163T>G | |
| 13 | g.32340519T>A | CA387788331 | BRCA2 | c.6164T>A (p.Phe2055Tyr) c.5795T>A (p.Phe1932Tyr) n.6164T>A | ClinVar dbSNP |
| 13 | g.32340519T>C | CA387788333 | BRCA2 | c.6164T>C (p.Phe2055Ser) c.5795T>C (p.Phe1932Ser) n.6164T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340519T>G | CA387788334 | BRCA2 | c.6164T>G (p.Phe2055Cys) c.5795T>G (p.Phe1932Cys) n.6164T>G | |
| 13 | g.32340519T= | CA2082811118 | BRCA2 | c.6164T= (p.Phe2055=) c.5795T= (p.Phe1932=) n.6164T= | |
| 13 | g.32340520C>A | CA387788336 | BRCA2 | c.6165C>A (p.Phe2055Leu) c.5796C>A (p.Phe1932Leu) n.6165C>A | |
| 13 | g.32340520C= | CA2082811132 | BRCA2 | c.6165C= (p.Phe2055=) c.5796C= (p.Phe1932=) n.6165C= | |
| 13 | g.32340520C>G | CA387788338 | BRCA2 | c.6165C>G (p.Phe2055Leu) c.5796C>G (p.Phe1932Leu) n.6165C>G | ClinVar dbSNP |
| 13 | g.32340520C>T | CA483439286 | BRCA2 | c.6165C>T (p.Phe2055=) c.5796C>T (p.Phe1932=) n.6165C>T | ClinVar dbSNP |
| 13 | g.32340521T>A | CA387788339 | BRCA2 | c.6166T>A (p.Ser2056Thr) c.5797T>A (p.Ser1933Thr) n.6166T>A | dbSNP |
| 13 | g.32340521T>C | CA387788341 | BRCA2 | c.6166T>C (p.Ser2056Pro) c.5797T>C (p.Ser1933Pro) n.6166T>C | |
| 13 | g.32340521T>G | CA387788343 | BRCA2 | c.6166T>G (p.Ser2056Ala) c.5797T>G (p.Ser1933Ala) n.6166T>G | |
| 13 | g.32340522C>A | CA387788345 | BRCA2 | c.6167C>A (p.Ser2056Tyr) c.5798C>A (p.Ser1933Tyr) n.6167C>A | |
| 13 | g.32340522C>G | CA387788347 | BRCA2 | c.6167C>G (p.Ser2056Cys) c.5798C>G (p.Ser1933Cys) n.6167C>G | dbSNP |
| 13 | g.32340522C>T | CA387788349 | BRCA2 | c.6167C>T (p.Ser2056Phe) c.5798C>T (p.Ser1933Phe) n.6167C>T | ClinVar dbSNP |
| 13 | g.32340523T>A | CA483439291 | BRCA2 | c.6168T>A (p.Ser2056=) c.5799T>A (p.Ser1933=) n.6168T>A | |
| 13 | g.32340523T>C | CA16613900 | BRCA2 | c.6168T>C (p.Ser2056=) c.5799T>C (p.Ser1933=) n.6168T>C | ClinVar dbSNP |
| 13 | g.32340523T>G | CA483439292 | BRCA2 | c.6168T>G (p.Ser2056=) c.5799T>G (p.Ser1933=) n.6168T>G | |
| 13 | g.32340523T= | CA2082811143 | BRCA2 | c.6168T= (p.Ser2056=) c.5799T= (p.Ser1933=) n.6168T= | |
| 13 | g.32340524G>A | CA387788354 | BRCA2 | c.6169G>A (p.Gly2057Arg) c.5800G>A (p.Gly1934Arg) n.6169G>A | ClinVar dbSNP |
| 13 | g.32340524G>C | CA387788351 | BRCA2 | c.6169G>C (p.Gly2057Arg) c.5800G>C (p.Gly1934Arg) n.6169G>C | |
| 13 | g.32340524G= | CA2082811153 | BRCA2 | c.6169G= (p.Gly2057=) c.5800G= (p.Gly1934=) n.6169G= | |
| 13 | g.32340524G>T | CA023712 | BRCA2 | c.6169G>T (p.Gly2057Ter) c.5800G>T (p.Gly1934Ter) n.6169G>T | ClinVar dbSNP |
| 13 | g.32340525del | CA2580087791 | BRCA2 | c.6170del (p.Gly2057AspfsTer13) c.5801del (p.Gly1934AspfsTer13) n.6170del | ClinVar |
| 13 | g.32340525G>A | CA387788356 | BRCA2 | c.6170G>A (p.Gly2057Glu) c.5801G>A (p.Gly1934Glu) n.6170G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340525G>C | CA387788357 | BRCA2 | c.6170G>C (p.Gly2057Ala) c.5801G>C (p.Gly1934Ala) n.6170G>C | dbSNP |
| 13 | g.32340525G= | CA2082811168 | BRCA2 | c.6170G= (p.Gly2057=) c.5801G= (p.Gly1934=) n.6170G= | |
| 13 | g.32340525G>T | CA10579682 | BRCA2 | c.6170G>T (p.Gly2057Val) c.5801G>T (p.Gly1934Val) n.6170G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340526A= | CA2082811173 | BRCA2 | c.6171A= (p.Gly2057=) c.5802A= (p.Gly1934=) n.6171A= | |
| 13 | g.32340526A>C | CA483439298 | BRCA2 | c.6171A>C (p.Gly2057=) c.5802A>C (p.Gly1934=) n.6171A>C | ClinVar |
| 13 | g.32340526A>G | CA483439299 | BRCA2 | c.6171A>G (p.Gly2057=) c.5802A>G (p.Gly1934=) n.6171A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340526A>T | CA483439302 | BRCA2 | c.6171A>T (p.Gly2057=) c.5802A>T (p.Gly1934=) n.6171A>T | ClinVar |
| 13 | g.32340526_32340527delinsAT | CA2082811175 | BRCA2 | c.6171_6172delinsAT (p.Gly2057=) c.5802_5803delinsAT (p.Gly1934=) n.6171_6172delinsAT | |
| 13 | g.32340527T>A | CA023714 | BRCA2 | c.6172T>A (p.Phe2058Ile) c.5803T>A (p.Phe1935Ile) n.6172T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340527T>C | CA387788360 | BRCA2 | c.6172T>C (p.Phe2058Leu) c.5803T>C (p.Phe1935Leu) n.6172T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340527T>G | CA387788362 | BRCA2 | c.6172T>G (p.Phe2058Val) c.5803T>G (p.Phe1935Val) n.6172T>G | dbSNP |
| 13 | g.32340527T= | CA2082811187 | BRCA2 | c.6172T= (p.Phe2058=) c.5803T= (p.Phe1935=) n.6172T= | |
| 13 | g.32340529del | CA023718 | BRCA2 | c.6174del (p.Phe2058LeufsTer12) c.5805del (p.Phe1935LeufsTer12) n.6174del | ClinVar dbSNP |
| 13 | g.32340528T>A | CA247512675 | BRCA2 | c.6173T>A (p.Phe2058Tyr) c.5804T>A (p.Phe1935Tyr) n.6173T>A | dbSNP gnomAD v4 |
| 13 | g.32340528T>C | CA387788366 | BRCA2 | c.6173T>C (p.Phe2058Ser) c.5804T>C (p.Phe1935Ser) n.6173T>C | |
| 13 | g.32340528T>G | CA023716 | BRCA2 | c.6173T>G (p.Phe2058Cys) c.5804T>G (p.Phe1935Cys) n.6173T>G | ClinVar dbSNP |
| 13 | g.32340528T= | CA2082811201 | BRCA2 | c.6173T= (p.Phe2058=) c.5804T= (p.Phe1935=) n.6173T= | |
| 13 | g.32340529T>A | CA387788368 | BRCA2 | c.6174T>A (p.Phe2058Leu) c.5805T>A (p.Phe1935Leu) n.6174T>A | dbSNP |
| 13 | g.32340529T>C | CA483439308 | BRCA2 | c.6174T>C (p.Phe2058=) c.5805T>C (p.Phe1935=) n.6174T>C | |
| 13 | g.32340529T>G | CA387788369 | BRCA2 | c.6174T>G (p.Phe2058Leu) c.5805T>G (p.Phe1935Leu) n.6174T>G | |
| 13 | g.32340530A>C | CA387788373 | BRCA2 | c.6175A>C (p.Ser2059Arg) c.5806A>C (p.Ser1936Arg) n.6175A>C | dbSNP |
| 13 | g.32340530A>G | CA387788371 | BRCA2 | c.6175A>G (p.Ser2059Gly) c.5806A>G (p.Ser1936Gly) n.6175A>G | dbSNP |
| 13 | g.32340530A>T | CA387788370 | BRCA2 | c.6175A>T (p.Ser2059Cys) c.5806A>T (p.Ser1936Cys) n.6175A>T | dbSNP |
| 13 | g.32340531G>A | CA023720 | BRCA2 | c.6176G>A (p.Ser2059Asn) c.5807G>A (p.Ser1936Asn) n.6176G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340531G>C | CA387788375 | BRCA2 | c.6176G>C (p.Ser2059Thr) c.5807G>C (p.Ser1936Thr) n.6176G>C | dbSNP |
| 13 | g.32340531G= | CA2082811211 | BRCA2 | c.6176G= (p.Ser2059=) c.5807G= (p.Ser1936=) n.6176G= | |
| 13 | g.32340531G>T | CA387788377 | BRCA2 | c.6176G>T (p.Ser2059Ile) c.5807G>T (p.Ser1936Ile) n.6176G>T | dbSNP |
| 13 | g.32340532del | CA2622599607 | BRCA2 | c.6177del (p.Ser2059ArgfsTer11) c.5808del (p.Ser1936ArgfsTer11) n.6177del | gnomAD v4 |
| 13 | g.32340532T>A | CA387788379 | BRCA2 | c.6177T>A (p.Ser2059Arg) c.5808T>A (p.Ser1936Arg) n.6177T>A | dbSNP |
| 13 | g.32340532T>C | CA483439310 | BRCA2 | c.6177T>C (p.Ser2059=) c.5808T>C (p.Ser1936=) n.6177T>C | ClinVar dbSNP |
| 13 | g.32340532T>G | CA387788381 | BRCA2 | c.6177T>G (p.Ser2059Arg) c.5808T>G (p.Ser1936Arg) n.6177T>G | |
| 13 | g.32340532T= | CA2082811226 | BRCA2 | c.6177T= (p.Ser2059=) c.5808T= (p.Ser1936=) n.6177T= | |
| 13 | g.32340532_32340533delinsTA | CA2082811220 | BRCA2 | c.6177_6178delinsTA (p.Ser2059=) c.5808_5809delinsTA (p.Ser1936=) n.6177_6178delinsTA | |
| 13 | g.32340533del | CA023722 | BRCA2 | c.6178del (p.Thr2060GlnfsTer10) c.5809del (p.Thr1937GlnfsTer10) n.6178del | ClinVar dbSNP |
| 13 | g.32340533A>C | CA387788382 | BRCA2 | c.6178A>C (p.Thr2060Pro) c.5809A>C (p.Thr1937Pro) n.6178A>C | dbSNP |
| 13 | g.32340533A>G | CA387788384 | BRCA2 | c.6178A>G (p.Thr2060Ala) c.5809A>G (p.Thr1937Ala) n.6178A>G | dbSNP |
| 13 | g.32340533A>T | CA387788385 | BRCA2 | c.6178A>T (p.Thr2060Ser) c.5809A>T (p.Thr1937Ser) n.6178A>T | dbSNP |
| 13 | g.32340534C>A | CA387788388 | BRCA2 | c.6179C>A (p.Thr2060Lys) c.5810C>A (p.Thr1937Lys) n.6179C>A | ClinVar dbSNP |
| 13 | g.32340534C= | CA2082811250 | BRCA2 | c.6179C= (p.Thr2060=) c.5810C= (p.Thr1937=) n.6179C= | |
| 13 | g.32340534C>G | CA387788389 | BRCA2 | c.6179C>G (p.Thr2060Arg) c.5810C>G (p.Thr1937Arg) n.6179C>G | dbSNP |
| 13 | g.32340534C>T | CA387788391 | BRCA2 | c.6179C>T (p.Thr2060Ile) c.5810C>T (p.Thr1937Ile) n.6179C>T | ClinVar dbSNP |
| 13 | g.32340534_32340545delinsCAGCAAGTGGAA | CA2082811240 | BRCA2 | c.6179_6190delinsCAGCAAGTGGAA (p.Thr2060=) c.5810_5821delinsCAGCAAGTGGAA (p.Thr1937=) n.6179_6190delinsCAGCAAGTGGAA | |
| 13 | g.32340535A= | CA2082811258 | BRCA2 | c.6180A= (p.Thr2060=) c.5811A= (p.Thr1937=) n.6180A= | |
| 13 | g.32340535A>C | CA483439315 | BRCA2 | c.6180A>C (p.Thr2060=) c.5811A>C (p.Thr1937=) n.6180A>C | |
| 13 | g.32340535A>G | CA483439316 | BRCA2 | c.6180A>G (p.Thr2060=) c.5811A>G (p.Thr1937=) n.6180A>G | ClinVar dbSNP |
| 13 | g.32340535A>T | CA483439317 | BRCA2 | c.6180A>T (p.Thr2060=) c.5811A>T (p.Thr1937=) n.6180A>T | ClinVar dbSNP |
| 13 | g.32340542_32340552del | CA658656418 | BRCA2 | c.6187_6197del (p.Gly2063PhefsTer11) c.5818_5828del (p.Gly1940PhefsTer11) n.6187_6197del | ClinVar dbSNP |
| 13 | g.32340536G>A | CA387788393 | BRCA2 | c.6181G>A (p.Ala2061Thr) c.5812G>A (p.Ala1938Thr) n.6181G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340536G>C | CA387788395 | BRCA2 | c.6181G>C (p.Ala2061Pro) c.5812G>C (p.Ala1938Pro) n.6181G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340536G= | CA2082811273 | BRCA2 | c.6181G= (p.Ala2061=) c.5812G= (p.Ala1938=) n.6181G= | |
| 13 | g.32340536G>T | CA387788396 | BRCA2 | c.6181G>T (p.Ala2061Ser) c.5812G>T (p.Ala1938Ser) n.6181G>T | dbSNP |
| 13 | g.32340537C>A | CA387788402 | BRCA2 | c.6182C>A (p.Ala2061Glu) c.5813C>A (p.Ala1938Glu) n.6182C>A | ClinVar dbSNP |
| 13 | g.32340537C= | CA2082811284 | BRCA2 | c.6182C= (p.Ala2061=) c.5813C= (p.Ala1938=) n.6182C= | |
| 13 | g.32340537C>G | CA387788398 | BRCA2 | c.6182C>G (p.Ala2061Gly) c.5813C>G (p.Ala1938Gly) n.6182C>G | dbSNP |
| 13 | g.32340537C>T | CA387788400 | BRCA2 | c.6182C>T (p.Ala2061Val) c.5813C>T (p.Ala1938Val) n.6182C>T | ClinVar dbSNP |
| 13 | g.32340537dup | CA2573149411 | BRCA2 | c.6182dup (p.Ser2062LysfsTer16) c.5813dup (p.Ser1939LysfsTer16) n.6182dup | ClinVar dbSNP |
| 13 | g.32340538A>C | CA483439320 | BRCA2 | c.6183A>C (p.Ala2061=) c.5814A>C (p.Ala1938=) n.6183A>C | |
| 13 | g.32340538A>G | CA483439321 | BRCA2 | c.6183A>G (p.Ala2061=) c.5814A>G (p.Ala1938=) n.6183A>G | |
| 13 | g.32340538A>T | CA483439323 | BRCA2 | c.6183A>T (p.Ala2061=) c.5814A>T (p.Ala1938=) n.6183A>T | dbSNP |
| 13 | g.32340539A>C | CA387788404 | BRCA2 | c.6184A>C (p.Ser2062Arg) c.5815A>C (p.Ser1939Arg) n.6184A>C | |
| 13 | g.32340539A>G | CA387788406 | BRCA2 | c.6184A>G (p.Ser2062Gly) c.5815A>G (p.Ser1939Gly) n.6184A>G | |
| 13 | g.32340539A>T | CA387788407 | BRCA2 | c.6184A>T (p.Ser2062Cys) c.5815A>T (p.Ser1939Cys) n.6184A>T | dbSNP |
| 13 | g.32340540G>A | CA6940932 | BRCA2 | c.6185G>A (p.Ser2062Asn) c.5816G>A (p.Ser1939Asn) n.6185G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340540G>C | CA387788409 | BRCA2 | c.6185G>C (p.Ser2062Thr) c.5816G>C (p.Ser1939Thr) n.6185G>C | dbSNP |
| 13 | g.32340540G= | CA2082811291 | BRCA2 | c.6185G= (p.Ser2062=) c.5816G= (p.Ser1939=) n.6185G= | |
| 13 | g.32340540G>T | CA387788411 | BRCA2 | c.6185G>T (p.Ser2062Ile) c.5816G>T (p.Ser1939Ile) n.6185G>T | ClinVar |
| 13 | g.32340541T>A | CA387788412 | BRCA2 | c.6186T>A (p.Ser2062Arg) c.5817T>A (p.Ser1939Arg) n.6186T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340541T>C | CA483439327 | BRCA2 | c.6186T>C (p.Ser2062=) c.5817T>C (p.Ser1939=) n.6186T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340541T>G | CA387788414 | BRCA2 | c.6186T>G (p.Ser2062Arg) c.5817T>G (p.Ser1939Arg) n.6186T>G | |
| 13 | g.32340541T= | CA2082811300 | BRCA2 | c.6186T= (p.Ser2062=) c.5817T= (p.Ser1939=) n.6186T= | |
| 13 | g.32340542G>A | CA387788415 | BRCA2 | c.6187G>A (p.Gly2063Arg) c.5818G>A (p.Gly1940Arg) n.6187G>A | COSMIC COSMIC |
| 13 | g.32340542G>C | CA387788417 | BRCA2 | c.6187G>C (p.Gly2063Arg) c.5818G>C (p.Gly1940Arg) n.6187G>C | |
| 13 | g.32340542G>T | CA387788418 | BRCA2 | c.6187G>T (p.Gly2063Ter) c.5818G>T (p.Gly1940Ter) n.6187G>T | |
| 13 | g.32340542_32340543delinsAA | CA2580087861 | BRCA2 | c.6187_6188delinsAA (p.Gly2063Lys) c.5818_5819delinsAA (p.Gly1940Lys) n.6187_6188delinsAA | ClinVar |
| 13 | g.32340543G>A | CA023726 | BRCA2 | c.6188G>A (p.Gly2063Glu) c.5819G>A (p.Gly1940Glu) n.6188G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340543G>C | CA387788423 | BRCA2 | c.6188G>C (p.Gly2063Ala) c.5819G>C (p.Gly1940Ala) n.6188G>C | dbSNP |
| 13 | g.32340543G= | CA2082811311 | BRCA2 | c.6188G= (p.Gly2063=) c.5819G= (p.Gly1940=) n.6188G= | |
| 13 | g.32340543G>T | CA387788421 | BRCA2 | c.6188G>T (p.Gly2063Val) c.5819G>T (p.Gly1940Val) n.6188G>T | dbSNP |
| 13 | g.32340544A= | CA2082811326 | BRCA2 | c.6189A= (p.Gly2063=) c.5820A= (p.Gly1940=) n.6189A= | |
| 13 | g.32340544A>C | CA483439331 | BRCA2 | c.6189A>C (p.Gly2063=) c.5820A>C (p.Gly1940=) n.6189A>C | ClinVar dbSNP |
| 13 | g.32340544A>G | CA483439329 | BRCA2 | c.6189A>G (p.Gly2063=) c.5820A>G (p.Gly1940=) n.6189A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340544A>T | CA483439330 | BRCA2 | c.6189A>T (p.Gly2063=) c.5820A>T (p.Gly1940=) n.6189A>T | dbSNP |
| 13 | g.32340545A= | CA2082811337 | BRCA2 | c.6190A= (p.Lys2064=) c.5821A= (p.Lys1941=) n.6190A= | |
| 13 | g.32340545A>C | CA387788425 | BRCA2 | c.6190A>C (p.Lys2064Gln) c.5821A>C (p.Lys1941Gln) n.6190A>C | |
| 13 | g.32340545A>G | CA387788427 | BRCA2 | c.6190A>G (p.Lys2064Glu) c.5821A>G (p.Lys1941Glu) n.6190A>G | ClinVar dbSNP |
| 13 | g.32340545A>T | CA387788429 | BRCA2 | c.6190A>T (p.Lys2064Ter) c.5821A>T (p.Lys1941Ter) n.6190A>T | dbSNP |
| 13 | g.32340546A>C | CA387788431 | BRCA2 | c.6191A>C (p.Lys2064Thr) c.5822A>C (p.Lys1941Thr) n.6191A>C | |
| 13 | g.32340546A>G | CA387788432 | BRCA2 | c.6191A>G (p.Lys2064Arg) c.5822A>G (p.Lys1941Arg) n.6191A>G | |
| 13 | g.32340546A>T | CA387788434 | BRCA2 | c.6191A>T (p.Lys2064Met) c.5822A>T (p.Lys1941Met) n.6191A>T | |
| 13 | g.32340547G>A | CA023727 | BRCA2 | c.6192G>A (p.Lys2064=) c.5823G>A (p.Lys1941=) n.6192G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340547G>C | CA387788817 | BRCA2 | c.6192G>C (p.Lys2064Asn) c.5823G>C (p.Lys1941Asn) n.6192G>C | ClinVar dbSNP |
| 13 | g.32340547G= | CA2082811354 | BRCA2 | c.6192G= (p.Lys2064=) c.5823G= (p.Lys1941=) n.6192G= | |
| 13 | g.32340547G>T | CA387788818 | BRCA2 | c.6192G>T (p.Lys2064Asn) c.5823G>T (p.Lys1941Asn) n.6192G>T | dbSNP |
| 13 | g.32340548C>A | CA387788819 | BRCA2 | c.6193C>A (p.Gln2065Lys) c.5824C>A (p.Gln1942Lys) n.6193C>A | ClinVar dbSNP |
| 13 | g.32340548C>G | CA387788820 | BRCA2 | c.6193C>G (p.Gln2065Glu) c.5824C>G (p.Gln1942Glu) n.6193C>G | ClinVar dbSNP |
| 13 | g.32340548C>T | CA387788821 | BRCA2 | c.6193C>T (p.Gln2065Ter) c.5824C>T (p.Gln1942Ter) n.6193C>T | ClinVar dbSNP |
| 13 | g.32340548_32340549delinsCA | CA2082811368 | BRCA2 | c.6193_6194delinsCA (p.Gln2065=) c.5824_5825delinsCA (p.Gln1942=) n.6193_6194delinsCA | |
| 13 | g.32340549A>C | CA387788824 | BRCA2 | c.6194A>C (p.Gln2065Pro) c.5825A>C (p.Gln1942Pro) n.6194A>C | gnomAD v4 |
| 13 | g.32340549A>G | CA387788823 | BRCA2 | c.6194A>G (p.Gln2065Arg) c.5825A>G (p.Gln1942Arg) n.6194A>G | |
| 13 | g.32340549A>T | CA387788822 | BRCA2 | c.6194A>T (p.Gln2065Leu) c.5825A>T (p.Gln1942Leu) n.6194A>T | |
| 13 | g.32340550del | CA913188536 | BRCA2 | c.6195del (p.Val2066PhefsTer4) c.5826del (p.Val1943PhefsTer4) n.6195del | ClinVar dbSNP |
| 13 | g.32340550A= | CA2082811405 | BRCA2 | c.6195A= (p.Gln2065=) c.5826A= (p.Gln1942=) n.6195A= | |
| 13 | g.32340550A>C | CA10579683 | BRCA2 | c.6195A>C (p.Gln2065His) c.5826A>C (p.Gln1942His) n.6195A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340550A>G | CA16606794 | BRCA2 | c.6195A>G (p.Gln2065=) c.5826A>G (p.Gln1942=) n.6195A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340550A>T | CA387788825 | BRCA2 | c.6195A>T (p.Gln2065His) c.5826A>T (p.Gln1942His) n.6195A>T | dbSNP |
| 13 | g.32340551G>A | CA023729 | BRCA2 | c.6196G>A (p.Val2066Ile) c.5827G>A (p.Val1943Ile) n.6196G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340551G>C | CA387788826 | BRCA2 | c.6196G>C (p.Val2066Leu) c.5827G>C (p.Val1943Leu) n.6196G>C | ClinVar dbSNP |
| 13 | g.32340551G= | CA2082811425 | BRCA2 | c.6196G= (p.Val2066=) c.5827G= (p.Val1943=) n.6196G= | |
| 13 | g.32340551G>T | CA387788827 | BRCA2 | c.6196G>T (p.Val2066Phe) c.5827G>T (p.Val1943Phe) n.6196G>T | ClinVar dbSNP |
| 13 | g.32340551_32340553delinsGTT | CA2082811430 | BRCA2 | c.6196_6198delinsGTT (p.Val2066=) c.5827_5829delinsGTT (p.Val1943=) n.6196_6198delinsGTT | |
| 13 | g.32340551_32340554delinsGTTT | CA2082811420 | BRCA2 | c.6196_6199delinsGTTT (p.Val2066=) c.5827_5830delinsGTTT (p.Val1943=) n.6196_6199delinsGTTT | |
| 13 | g.32340552T>A | CA387788828 | BRCA2 | c.6197T>A (p.Val2066Asp) c.5828T>A (p.Val1943Asp) n.6197T>A | dbSNP |
| 13 | g.32340552T>C | CA387788829 | BRCA2 | c.6197T>C (p.Val2066Ala) c.5828T>C (p.Val1943Ala) n.6197T>C | ClinVar dbSNP |
| 13 | g.32340552T>G | CA387788830 | BRCA2 | c.6197T>G (p.Val2066Gly) c.5828T>G (p.Val1943Gly) n.6197T>G | dbSNP |
| 13 | g.32340552_32340554del | CA2082811448 | BRCA2 | c.6197_6199del (p.Val2066_Ser2067delinsAla) c.5828_5830del (p.Val1943_Ser1944delinsAla) n.6197_6199del | dbSNP |
| 13 | g.32340554del | CA10589359 | BRCA2 | c.6199del (p.Ser2067ProfsTer3) c.5830del (p.Ser1944ProfsTer3) n.6199del | ClinVar dbSNP |
| 13 | g.32340553_32340554del | CA023731 | BRCA2 | c.6198_6199del (p.Ser2067HisfsTer10) c.5829_5830del (p.Ser1944HisfsTer10) n.6198_6199del | ClinVar dbSNP |
| 13 | g.32340553T>A | CA483438652 | BRCA2 | c.6198T>A (p.Val2066=) c.5829T>A (p.Val1943=) n.6198T>A | dbSNP |
| 13 | g.32340553T>C | CA483438653 | BRCA2 | c.6198T>C (p.Val2066=) c.5829T>C (p.Val1943=) n.6198T>C | dbSNP |
| 13 | g.32340553T>G | CA483438654 | BRCA2 | c.6198T>G (p.Val2066=) c.5829T>G (p.Val1943=) n.6198T>G | |
| 13 | g.32340554T>A | CA023733 | BRCA2 | c.6199T>A (p.Ser2067Thr) c.5830T>A (p.Ser1944Thr) n.6199T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340554T>C | CA387788831 | BRCA2 | c.6199T>C (p.Ser2067Pro) c.5830T>C (p.Ser1944Pro) n.6199T>C | |
| 13 | g.32340554T>G | CA387788832 | BRCA2 | c.6199T>G (p.Ser2067Ala) c.5830T>G (p.Ser1944Ala) n.6199T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340554T= | CA2082811463 | BRCA2 | c.6199T= (p.Ser2067=) c.5830T= (p.Ser1944=) n.6199T= | |
| 13 | g.32340554_32340555delinsTC | CA2082811460 | BRCA2 | c.6199_6200delinsTC (p.Ser2067=) c.5830_5831delinsTC (p.Ser1944=) n.6199_6200delinsTC | |
| 13 | g.32340555C>A | CA387788835 | BRCA2 | c.6200C>A (p.Ser2067Tyr) c.5831C>A (p.Ser1944Tyr) n.6200C>A | dbSNP |
| 13 | g.32340555C= | CA2082811475 | BRCA2 | c.6200C= (p.Ser2067=) c.5831C= (p.Ser1944=) n.6200C= | |
| 13 | g.32340555C>G | CA387788834 | BRCA2 | c.6200C>G (p.Ser2067Cys) c.5831C>G (p.Ser1944Cys) n.6200C>G | dbSNP |
| 13 | g.32340555C>T | CA387788833 | BRCA2 | c.6200C>T (p.Ser2067Phe) c.5831C>T (p.Ser1944Phe) n.6200C>T | dbSNP COSMIC COSMIC |
| 13 | g.32340556del | CA023737 | BRCA2 | c.6201del (p.Ile2068PhefsTer2) c.5832del (p.Ile1945PhefsTer2) n.6201del | ClinVar dbSNP |
| 13 | g.32340556C>A | CA10579684 | BRCA2 | c.6201C>A (p.Ser2067=) c.5832C>A (p.Ser1944=) n.6201C>A | ClinVar dbSNP |
| 13 | g.32340556C= | CA2082811481 | BRCA2 | c.6201C= (p.Ser2067=) c.5832C= (p.Ser1944=) n.6201C= | |
| 13 | g.32340556C>G | CA483438661 | BRCA2 | c.6201C>G (p.Ser2067=) c.5832C>G (p.Ser1944=) n.6201C>G | ClinVar dbSNP |
| 13 | g.32340556C>T | CA483438662 | BRCA2 | c.6201C>T (p.Ser2067=) c.5832C>T (p.Ser1944=) n.6201C>T | dbSNP COSMIC COSMIC |
| 13 | g.32340557A= | CA2082811497 | BRCA2 | c.6202A= (p.Ile2068=) c.5833A= (p.Ile1945=) n.6202A= | |
| 13 | g.32340557A>C | CA387788836 | BRCA2 | c.6202A>C (p.Ile2068Leu) c.5833A>C (p.Ile1945Leu) n.6202A>C | gnomAD v4 |
| 13 | g.32340557A>G | CA6940933 | BRCA2 | c.6202A>G (p.Ile2068Val) c.5833A>G (p.Ile1945Val) n.6202A>G | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32340557A>T | CA387788837 | BRCA2 | c.6202A>T (p.Ile2068Phe) c.5833A>T (p.Ile1945Phe) n.6202A>T | ClinVar dbSNP |
| 13 | g.32340557dup | CA023740 | BRCA2 | c.6202dup (p.Ile2068AsnfsTer10) c.5833dup (p.Ile1945AsnfsTer10) n.6202dup | ClinVar dbSNP |
| 13 | g.32340557_32340558delinsAT | CA2082811502 | BRCA2 | c.6202_6203delinsAT (p.Ile2068=) c.5833_5834delinsAT (p.Ile1945=) n.6202_6203delinsAT | |
| 13 | g.32340558T>A | CA387788838 | BRCA2 | c.6203T>A (p.Ile2068Asn) c.5834T>A (p.Ile1945Asn) n.6203T>A | dbSNP |
| 13 | g.32340558T>C | CA387788840 | BRCA2 | c.6203T>C (p.Ile2068Thr) c.5834T>C (p.Ile1945Thr) n.6203T>C | dbSNP |
| 13 | g.32340558T>G | CA387788839 | BRCA2 | c.6203T>G (p.Ile2068Ser) c.5834T>G (p.Ile1945Ser) n.6203T>G | |
| 13 | g.32340558T= | CA2082811522 | BRCA2 | c.6203T= (p.Ile2068=) c.5834T= (p.Ile1945=) n.6203T= | |
| 13 | g.32340561dup | CA919242656 | BRCA2 | c.6206dup (p.Leu2069PhefsTer9) c.5837dup (p.Leu1946PhefsTer9) n.6206dup | dbSNP |
| 13 | g.32340561del | CA023743 | BRCA2 | c.6206del (p.Leu2069Ter) c.5837del (p.Leu1946Ter) n.6206del | ClinVar dbSNP |
| 13 | g.32340558_32340559insA | CA023741 | BRCA2 | c.6203_6204insA (p.Leu2069PhefsTer9) c.5834_5835insA (p.Leu1946PhefsTer9) n.6203_6204insA | ClinVar dbSNP |
| 13 | g.32340559T>A | CA483438666 | BRCA2 | c.6204T>A (p.Ile2068=) c.5835T>A (p.Ile1945=) n.6204T>A | dbSNP |
| 13 | g.32340559T>C | CA483438668 | BRCA2 | c.6204T>C (p.Ile2068=) c.5835T>C (p.Ile1945=) n.6204T>C | gnomAD v4 |
| 13 | g.32340559T>G | CA387788841 | BRCA2 | c.6204T>G (p.Ile2068Met) c.5835T>G (p.Ile1945Met) n.6204T>G | |
| 13 | g.32340560T>A | CA387788842 | BRCA2 | c.6205T>A (p.Leu2069Ile) c.5836T>A (p.Leu1946Ile) n.6205T>A | dbSNP |
| 13 | g.32340560T>C | CA483438672 | BRCA2 | c.6205T>C (p.Leu2069=) c.5836T>C (p.Leu1946=) n.6205T>C | |
| 13 | g.32340560T>G | CA387788843 | BRCA2 | c.6205T>G (p.Leu2069Val) c.5836T>G (p.Leu1946Val) n.6205T>G | |
| 13 | g.32340561T>A | CA387788844 | BRCA2 | c.6206T>A (p.Leu2069Ter) c.5837T>A (p.Leu1946Ter) n.6206T>A | dbSNP |
| 13 | g.32340561T>C | CA387788845 | BRCA2 | c.6206T>C (p.Leu2069Ser) c.5837T>C (p.Leu1946Ser) n.6206T>C | ClinVar COSMIC COSMIC |
| 13 | g.32340561T>G | CA023746 | BRCA2 | c.6206T>G (p.Leu2069Ter) c.5837T>G (p.Leu1946Ter) n.6206T>G | ClinVar dbSNP |
| 13 | g.32340561T= | CA2082811538 | BRCA2 | c.6206T= (p.Leu2069=) c.5837T= (p.Leu1946=) n.6206T= | |
| 13 | g.32340561_32340565delinsTAGAA | CA2082811543 | BRCA2 | c.6206_6210delinsTAGAA (p.Leu2069=) c.5837_5841delinsTAGAA (p.Leu1946=) n.6206_6210delinsTAGAA | |
| 13 | g.32340562A= | CA2082811566 | BRCA2 | c.6207A= (p.Leu2069=) c.5838A= (p.Leu1946=) n.6207A= | |
| 13 | g.32340562A>C | CA387788846 | BRCA2 | c.6207A>C (p.Leu2069Phe) c.5838A>C (p.Leu1946Phe) n.6207A>C | |
| 13 | g.32340562A>G | CA16614192 | BRCA2 | c.6207A>G (p.Leu2069=) c.5838A>G (p.Leu1946=) n.6207A>G | ClinVar dbSNP |
| 13 | g.32340562A>T | CA387788847 | BRCA2 | c.6207A>T (p.Leu2069Phe) c.5838A>T (p.Leu1946Phe) n.6207A>T | |
| 13 | g.32340564_32340567del | CA023748 | BRCA2 | c.6209_6212del (p.Glu2070ValfsTer10) c.5840_5843del (p.Glu1947ValfsTer10) n.6209_6212del | ClinVar dbSNP |
| 13 | g.32340563G>A | CA387788848 | BRCA2 | c.6208G>A (p.Glu2070Lys) c.5839G>A (p.Glu1947Lys) n.6208G>A | dbSNP |
| 13 | g.32340563G>C | CA387788849 | BRCA2 | c.6208G>C (p.Glu2070Gln) c.5839G>C (p.Glu1947Gln) n.6208G>C | |
| 13 | g.32340563G>T | CA387788850 | BRCA2 | c.6208G>T (p.Glu2070Ter) c.5839G>T (p.Glu1947Ter) n.6208G>T | dbSNP |
| 13 | g.32340563_32340564delinsGA | CA2082811571 | BRCA2 | c.6208_6209delinsGA (p.Glu2070=) c.5839_5840delinsGA (p.Glu1947=) n.6208_6209delinsGA | |
| 13 | g.32340564A= | CA2082811580 | BRCA2 | c.6209A= (p.Glu2070=) c.5840A= (p.Glu1947=) n.6209A= | |
| 13 | g.32340564A>C | CA387788851 | BRCA2 | c.6209A>C (p.Glu2070Ala) c.5840A>C (p.Glu1947Ala) n.6209A>C | |
| 13 | g.32340564A>G | CA16619737 | BRCA2 | c.6209A>G (p.Glu2070Gly) c.5840A>G (p.Glu1947Gly) n.6209A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340564A>T | CA387788852 | BRCA2 | c.6209A>T (p.Glu2070Val) c.5840A>T (p.Glu1947Val) n.6209A>T | |
| 13 | g.32340566del | CA023754 | BRCA2 | c.6211del (p.Ser2071ValfsTer10) c.5842del (p.Ser1948ValfsTer10) n.6211del | ClinVar dbSNP |
| 13 | g.32340565A= | CA2082811592 | BRCA2 | c.6210A= (p.Glu2070=) c.5841A= (p.Glu1947=) n.6210A= | |
| 13 | g.32340565A>C | CA387788853 | BRCA2 | c.6210A>C (p.Glu2070Asp) c.5841A>C (p.Glu1947Asp) n.6210A>C | |
| 13 | g.32340565A>G | CA483438680 | BRCA2 | c.6210A>G (p.Glu2070=) c.5841A>G (p.Glu1947=) n.6210A>G | |
| 13 | g.32340565A>T | CA387788854 | BRCA2 | c.6210A>T (p.Glu2070Asp) c.5841A>T (p.Glu1947Asp) n.6210A>T | ClinVar dbSNP |
| 13 | g.32340566A= | CA2082811604 | BRCA2 | c.6211A= (p.Ser2071=) c.5842A= (p.Ser1948=) n.6211A= | |
| 13 | g.32340566A>C | CA023752 | BRCA2 | c.6211A>C (p.Ser2071Arg) c.5842A>C (p.Ser1948Arg) n.6211A>C | ClinVar dbSNP |
| 13 | g.32340566A>G | CA387788855 | BRCA2 | c.6211A>G (p.Ser2071Gly) c.5842A>G (p.Ser1948Gly) n.6211A>G | ClinVar dbSNP |
| 13 | g.32340566A>T | CA387788856 | BRCA2 | c.6211A>T (p.Ser2071Cys) c.5842A>T (p.Ser1948Cys) n.6211A>T | dbSNP |
| 13 | g.32340567del | CA2573149187 | BRCA2 | c.6212del (p.Ser2071IlefsTer10) c.5843del (p.Ser1948IlefsTer10) n.6212del | ClinVar dbSNP |
| 13 | g.32340567G>A | CA387788857 | BRCA2 | c.6212G>A (p.Ser2071Asn) c.5843G>A (p.Ser1948Asn) n.6212G>A | ClinVar dbSNP |
| 13 | g.32340567G>C | CA6940934 | BRCA2 | c.6212G>C (p.Ser2071Thr) c.5843G>C (p.Ser1948Thr) n.6212G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340567G= | CA2082811616 | BRCA2 | c.6212G= (p.Ser2071=) c.5843G= (p.Ser1948=) n.6212G= | |
| 13 | g.32340567G>T | CA023756 | BRCA2 | c.6212G>T (p.Ser2071Ile) c.5843G>T (p.Ser1948Ile) n.6212G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340568T>A | CA387788858 | BRCA2 | c.6213T>A (p.Ser2071Arg) c.5844T>A (p.Ser1948Arg) n.6213T>A | dbSNP |
| 13 | g.32340568T>C | CA483438683 | BRCA2 | c.6213T>C (p.Ser2071=) c.5844T>C (p.Ser1948=) n.6213T>C | ClinVar dbSNP |
| 13 | g.32340568T>G | CA387788859 | BRCA2 | c.6213T>G (p.Ser2071Arg) c.5844T>G (p.Ser1948Arg) n.6213T>G | dbSNP |
| 13 | g.32340569T>A | CA10583117 | BRCA2 | c.6214T>A (p.Ser2072Thr) c.5845T>A (p.Ser1949Thr) n.6214T>A | ClinVar dbSNP |
| 13 | g.32340569T>C | CA387788860 | BRCA2 | c.6214T>C (p.Ser2072Pro) c.5845T>C (p.Ser1949Pro) n.6214T>C | ClinVar dbSNP |
| 13 | g.32340569T>G | CA387788861 | BRCA2 | c.6214T>G (p.Ser2072Ala) c.5845T>G (p.Ser1949Ala) n.6214T>G | |
| 13 | g.32340569T= | CA2082811628 | BRCA2 | c.6214T= (p.Ser2072=) c.5845T= (p.Ser1949=) n.6214T= | |
| 13 | g.32340569_32340570delinsTC | CA2082811623 | BRCA2 | c.6214_6215delinsTC (p.Ser2072=) c.5845_5846delinsTC (p.Ser1949=) n.6214_6215delinsTC | |
| 13 | g.32340570C>A | CA6940935 | BRCA2 | c.6215C>A (p.Ser2072Tyr) c.5846C>A (p.Ser1949Tyr) n.6215C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340570C= | CA2082811652 | BRCA2 | c.6215C= (p.Ser2072=) c.5846C= (p.Ser1949=) n.6215C= | |
| 13 | g.32340570C>G | CA023758 | BRCA2 | c.6215C>G (p.Ser2072Cys) c.5846C>G (p.Ser1949Cys) n.6215C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340570C>T | CA247513282 | BRCA2 | c.6215C>T (p.Ser2072Phe) c.5846C>T (p.Ser1949Phe) n.6215C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340571del | CA023764 | BRCA2 | c.6216del (p.Leu2073TyrfsTer8) c.5847del (p.Leu1950TyrfsTer8) n.6216del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340571C>A | CA483438685 | BRCA2 | c.6216C>A (p.Ser2072=) c.5847C>A (p.Ser1949=) n.6216C>A | |
| 13 | g.32340571C= | CA2082811672 | BRCA2 | c.6216C= (p.Ser2072=) c.5847C= (p.Ser1949=) n.6216C= | |
| 13 | g.32340571C>G | CA023760 | BRCA2 | c.6216C>G (p.Ser2072=) c.5847C>G (p.Ser1949=) n.6216C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340571C>T | CA023762 | BRCA2 | c.6216C>T (p.Ser2072=) c.5847C>T (p.Ser1949=) n.6216C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340572T>A | CA387788862 | BRCA2 | c.6217T>A (p.Leu2073Ile) c.5848T>A (p.Leu1950Ile) n.6217T>A | dbSNP |
| 13 | g.32340572T>C | CA483438687 | BRCA2 | c.6217T>C (p.Leu2073=) c.5848T>C (p.Leu1950=) n.6217T>C | ClinVar dbSNP |
| 13 | g.32340572T>G | CA387788863 | BRCA2 | c.6217T>G (p.Leu2073Val) c.5848T>G (p.Leu1950Val) n.6217T>G | |
| 13 | g.32340573dup | CA2695217820 | BRCA2 | c.6218dup (p.Leu2073PhefsTer5) c.5849dup (p.Leu1950PhefsTer5) n.6218dup | |
| 13 | g.32340573T>A | CA387788864 | BRCA2 | c.6218T>A (p.Leu2073Ter) c.5849T>A (p.Leu1950Ter) n.6218T>A | |
| 13 | g.32340573T>C | CA387788865 | BRCA2 | c.6218T>C (p.Leu2073Ser) c.5849T>C (p.Leu1950Ser) n.6218T>C | gnomAD v4 |
| 13 | g.32340573T>G | CA387788866 | BRCA2 | c.6218T>G (p.Leu2073Ter) c.5849T>G (p.Leu1950Ter) n.6218T>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340573T= | CA2082811684 | BRCA2 | c.6218T= (p.Leu2073=) c.5849T= (p.Leu1950=) n.6218T= |