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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.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339774_32339776delinsGAT | CA2082823088 | BRCA2 | c.5419_5421delinsGAT (p.Asp1807=) c.5050_5052delinsGAT (p.Asp1684=) n.5419_5421delinsGAT | |
| 13 | g.32339777_32339778del | CA022295 | BRCA2 | c.5422_5423del (p.Ile1808LeufsTer3) c.5053_5054del (p.Ile1685LeufsTer3) n.5422_5423del | ClinVar dbSNP |
| 13 | g.32339776T>A | CA387785421 | BRCA2 | c.5421T>A (p.Asp1807Glu) c.5052T>A (p.Asp1684Glu) n.5421T>A | dbSNP |
| 13 | g.32339776T>C | CA483438724 | BRCA2 | c.5421T>C (p.Asp1807=) c.5052T>C (p.Asp1684=) n.5421T>C | ClinVar dbSNP gnomAD v2 |
| 13 | g.32339776T>G | CA387785424 | BRCA2 | c.5421T>G (p.Asp1807Glu) c.5052T>G (p.Asp1684Glu) n.5421T>G | dbSNP |
| 13 | g.32339776T= | CA2082823128 | BRCA2 | c.5421T= (p.Asp1807=) c.5052T= (p.Asp1684=) n.5421T= | |
| 13 | g.32339776_32340004delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | CA2082823130 | BRCA2 | c.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1807=) c.5052_5280delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1684=) n.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | |
| 13 | g.32339777A>C | CA387785428 | BRCA2 | c.5422A>C (p.Ile1808Leu) c.5053A>C (p.Ile1685Leu) n.5422A>C | |
| 13 | g.32339777A>G | CA387785430 | BRCA2 | c.5422A>G (p.Ile1808Val) c.5053A>G (p.Ile1685Val) n.5422A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339777A>T | CA387785431 | BRCA2 | c.5422A>T (p.Ile1808Phe) c.5053A>T (p.Ile1685Phe) n.5422A>T | dbSNP |
| 13 | g.32339777_32339778delinsAT | CA2082823140 | BRCA2 | c.5422_5423delinsAT (p.Ile1808=) c.5053_5054delinsAT (p.Ile1685=) n.5422_5423delinsAT | |
| 13 | g.32339783_32340010del | CA1139663219 | BRCA2 | c.5428_5655del (p.Val1810_Cys1885del) c.5059_5286del (p.Val1687_Cys1762del) n.5428_5655del | ClinVar dbSNP |
| 13 | g.32339778T>A | CA387785434 | BRCA2 | c.5423T>A (p.Ile1808Asn) c.5054T>A (p.Ile1685Asn) n.5423T>A | dbSNP |
| 13 | g.32339778T>C | CA022301 | BRCA2 | c.5423T>C (p.Ile1808Thr) c.5054T>C (p.Ile1685Thr) n.5423T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32339778T>G | CA387785437 | BRCA2 | c.5423T>G (p.Ile1808Ser) c.5054T>G (p.Ile1685Ser) n.5423T>G | |
| 13 | g.32339778T= | CA2082823188 | BRCA2 | c.5423T= (p.Ile1808=) c.5054T= (p.Ile1685=) n.5423T= | |
| 13 | g.32339780del | CA1139663220 | BRCA2 | c.5425del (p.Cys1809AlafsTer6) c.5056del (p.Cys1686AlafsTer6) n.5425del | ClinVar dbSNP |
| 13 | g.32339779T>A | CA483438374 | BRCA2 | c.5424T>A (p.Ile1808=) c.5055T>A (p.Ile1685=) n.5424T>A | |
| 13 | g.32339779T>C | CA483438376 | BRCA2 | c.5424T>C (p.Ile1808=) c.5055T>C (p.Ile1685=) n.5424T>C | |
| 13 | g.32339779T>G | CA387785439 | BRCA2 | c.5424T>G (p.Ile1808Met) c.5055T>G (p.Ile1685Met) n.5424T>G | ClinVar dbSNP |
| 13 | g.32339779T= | CA2082823196 | BRCA2 | c.5424T= (p.Ile1808=) c.5055T= (p.Ile1685=) n.5424T= | |
| 13 | g.32339780T>A | CA387785442 | BRCA2 | c.5425T>A (p.Cys1809Ser) c.5056T>A (p.Cys1686Ser) n.5425T>A | dbSNP |
| 13 | g.32339780T>C | CA387785446 | BRCA2 | c.5425T>C (p.Cys1809Arg) c.5056T>C (p.Cys1686Arg) n.5425T>C | |
| 13 | g.32339780T>G | CA387785444 | BRCA2 | c.5425T>G (p.Cys1809Gly) c.5056T>G (p.Cys1686Gly) n.5425T>G | ClinVar dbSNP |
| 13 | g.32339780T= | CA2082823205 | BRCA2 | c.5425T= (p.Cys1809=) c.5056T= (p.Cys1686=) n.5425T= | |
| 13 | g.32339781G>A | CA387785448 | BRCA2 | c.5426G>A (p.Cys1809Tyr) c.5057G>A (p.Cys1686Tyr) n.5426G>A | dbSNP |
| 13 | g.32339781G>C | CA387785451 | BRCA2 | c.5426G>C (p.Cys1809Ser) c.5057G>C (p.Cys1686Ser) n.5426G>C | dbSNP |
| 13 | g.32339781G>T | CA387785453 | BRCA2 | c.5426G>T (p.Cys1809Phe) c.5057G>T (p.Cys1686Phe) n.5426G>T | dbSNP |
| 13 | g.32339782C>A | CA387785456 | BRCA2 | c.5427C>A (p.Cys1809Ter) c.5058C>A (p.Cys1686Ter) n.5427C>A | ClinVar dbSNP |
| 13 | g.32339782C= | CA2082823212 | BRCA2 | c.5427C= (p.Cys1809=) c.5058C= (p.Cys1686=) n.5427C= | |
| 13 | g.32339782C>G | CA387785458 | BRCA2 | c.5427C>G (p.Cys1809Trp) c.5058C>G (p.Cys1686Trp) n.5427C>G | dbSNP |
| 13 | g.32339782C>T | CA022306 | BRCA2 | c.5427C>T (p.Cys1809=) c.5058C>T (p.Cys1686=) n.5427C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339783del | CA2580087378 | BRCA2 | c.5428del (p.Val1810LeufsTer5) c.5059del (p.Val1687LeufsTer5) n.5428del | ClinVar |
| 13 | g.32339783G>A | CA022313 | BRCA2 | c.5428G>A (p.Val1810Ile) c.5059G>A (p.Val1687Ile) n.5428G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32339783G>C | CA387785465 | BRCA2 | c.5428G>C (p.Val1810Leu) c.5059G>C (p.Val1687Leu) n.5428G>C | dbSNP |
| 13 | g.32339783G= | CA2082823219 | BRCA2 | c.5428G= (p.Val1810=) c.5059G= (p.Val1687=) n.5428G= | |
| 13 | g.32339783G>T | CA387785467 | BRCA2 | c.5428G>T (p.Val1810Phe) c.5059G>T (p.Val1687Phe) n.5428G>T | ClinVar dbSNP |
| 13 | g.32339784T>A | CA387785470 | BRCA2 | c.5429T>A (p.Val1810Asp) c.5060T>A (p.Val1687Asp) n.5429T>A | dbSNP |
| 13 | g.32339784T>C | CA387785471 | BRCA2 | c.5429T>C (p.Val1810Ala) c.5060T>C (p.Val1687Ala) n.5429T>C | ClinVar |
| 13 | g.32339784T>G | CA387785474 | BRCA2 | c.5429T>G (p.Val1810Gly) c.5060T>G (p.Val1687Gly) n.5429T>G | |
| 13 | g.32339785T>A | CA483438383 | BRCA2 | c.5430T>A (p.Val1810=) c.5061T>A (p.Val1687=) n.5430T>A | dbSNP |
| 13 | g.32339785T>C | CA16613893 | BRCA2 | c.5430T>C (p.Val1810=) c.5061T>C (p.Val1687=) n.5430T>C | ClinVar dbSNP |
| 13 | g.32339785T>G | CA483438385 | BRCA2 | c.5430T>G (p.Val1810=) c.5061T>G (p.Val1687=) n.5430T>G | ClinVar dbSNP |
| 13 | g.32339785T= | CA2082823225 | BRCA2 | c.5430T= (p.Val1810=) c.5061T= (p.Val1687=) n.5430T= | |
| 13 | g.32339786G>A | CA387785481 | BRCA2 | c.5431G>A (p.Glu1811Lys) c.5062G>A (p.Glu1688Lys) n.5431G>A | ClinVar dbSNP |
| 13 | g.32339786G>C | CA387785478 | BRCA2 | c.5431G>C (p.Glu1811Gln) c.5062G>C (p.Glu1688Gln) n.5431G>C | dbSNP |
| 13 | g.32339786G= | CA2082823237 | BRCA2 | c.5431G= (p.Glu1811=) c.5062G= (p.Glu1688=) n.5431G= | |
| 13 | g.32339786G>T | CA387785476 | BRCA2 | c.5431G>T (p.Glu1811Ter) c.5062G>T (p.Glu1688Ter) n.5431G>T | |
| 13 | g.32339786_32339790delinsGAGGA | CA2082823232 | BRCA2 | c.5431_5435delinsGAGGA (p.Glu1811=) c.5062_5066delinsGAGGA (p.Glu1688=) n.5431_5435delinsGAGGA | |
| 13 | g.32339788_32339790del | CA2622600623 | BRCA2 | c.5433_5435del (p.Glu1812del) c.5064_5066del (p.Glu1689del) n.5433_5435del | gnomAD v4 |
| 13 | g.32339787A= | CA2082823251 | BRCA2 | c.5432A= (p.Glu1811=) c.5063A= (p.Glu1688=) n.5432A= | |
| 13 | g.32339787A>C | CA387785483 | BRCA2 | c.5432A>C (p.Glu1811Ala) c.5063A>C (p.Glu1688Ala) n.5432A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339787A>G | CA387785486 | BRCA2 | c.5432A>G (p.Glu1811Gly) c.5063A>G (p.Glu1688Gly) n.5432A>G | |
| 13 | g.32339787A>T | CA387785489 | BRCA2 | c.5432A>T (p.Glu1811Val) c.5063A>T (p.Glu1688Val) n.5432A>T | dbSNP |
| 13 | g.32339788_32339791del | CA022316 | BRCA2 | c.5433_5436del (p.Glu1811AspfsTer3) c.5064_5067del (p.Glu1688AspfsTer3) n.5433_5436del | ClinVar dbSNP |
| 13 | g.32339788G>A | CA483438389 | BRCA2 | c.5433G>A (p.Glu1811=) c.5064G>A (p.Glu1688=) n.5433G>A | dbSNP gnomAD v4 |
| 13 | g.32339788G>C | CA387785492 | BRCA2 | c.5433G>C (p.Glu1811Asp) c.5064G>C (p.Glu1688Asp) n.5433G>C | dbSNP |
| 13 | g.32339788G>T | CA387785495 | BRCA2 | c.5433G>T (p.Glu1811Asp) c.5064G>T (p.Glu1688Asp) n.5433G>T | ClinVar dbSNP |
| 13 | g.32339789G>A | CA387785496 | BRCA2 | c.5434G>A (p.Glu1812Lys) c.5065G>A (p.Glu1689Lys) n.5434G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339789G>C | CA387785499 | BRCA2 | c.5434G>C (p.Glu1812Gln) c.5065G>C (p.Glu1689Gln) n.5434G>C | dbSNP |
| 13 | g.32339789G= | CA2082823263 | BRCA2 | c.5434G= (p.Glu1812=) c.5065G= (p.Glu1689=) n.5434G= | |
| 13 | g.32339789G>T | CA022320 | BRCA2 | c.5434G>T (p.Glu1812Ter) c.5065G>T (p.Glu1689Ter) n.5434G>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32339789_32339790delinsGA | CA2082823272 | BRCA2 | c.5434_5435delinsGA (p.Glu1812=) c.5065_5066delinsGA (p.Glu1689=) n.5434_5435delinsGA | |
| 13 | g.32339790A= | CA2082823288 | BRCA2 | c.5435A= (p.Glu1812=) c.5066A= (p.Glu1689=) n.5435A= | |
| 13 | g.32339790A>C | CA387785504 | BRCA2 | c.5435A>C (p.Glu1812Ala) c.5066A>C (p.Glu1689Ala) n.5435A>C | |
| 13 | g.32339790A>G | CA387785506 | BRCA2 | c.5435A>G (p.Glu1812Gly) c.5066A>G (p.Glu1689Gly) n.5435A>G | |
| 13 | g.32339790A>T | CA387785507 | BRCA2 | c.5435A>T (p.Glu1812Val) c.5066A>T (p.Glu1689Val) n.5435A>T | ClinVar dbSNP |
| 13 | g.32339791del | CA022325 | BRCA2 | c.5436del (p.Glu1812AspfsTer3) c.5067del (p.Glu1689AspfsTer3) n.5436del | ClinVar dbSNP |
| 13 | g.32339791A= | CA2082823292 | BRCA2 | c.5436A= (p.Glu1812=) c.5067A= (p.Glu1689=) n.5436A= | |
| 13 | g.32339791A>C | CA6940870 | BRCA2 | c.5436A>C (p.Glu1812Asp) c.5067A>C (p.Glu1689Asp) n.5436A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339791A>G | CA483438400 | BRCA2 | c.5436A>G (p.Glu1812=) c.5067A>G (p.Glu1689=) n.5436A>G | ClinVar dbSNP |
| 13 | g.32339791A>T | CA387785509 | BRCA2 | c.5436A>T (p.Glu1812Asp) c.5067A>T (p.Glu1689Asp) n.5436A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339792del | CA2573149356 | BRCA2 | c.5437del (p.Val1814Ter) c.5068del (p.Val1691Ter) n.5437del | ClinVar dbSNP |
| 13 | g.32339792C>A | CA387785511 | BRCA2 | c.5437C>A (p.Leu1813Ile) c.5068C>A (p.Leu1690Ile) n.5437C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339792C= | CA2082823305 | BRCA2 | c.5437C= (p.Leu1813=) c.5068C= (p.Leu1690=) n.5437C= | |
| 13 | g.32339792C>G | CA387785512 | BRCA2 | c.5437C>G (p.Leu1813Val) c.5068C>G (p.Leu1690Val) n.5437C>G | dbSNP |
| 13 | g.32339792C>T | CA387785513 | BRCA2 | c.5437C>T (p.Leu1813Phe) c.5068C>T (p.Leu1690Phe) n.5437C>T | dbSNP |
| 13 | g.32339792_32339793delinsCT | CA2082823302 | BRCA2 | c.5437_5438delinsCT (p.Leu1813=) c.5068_5069delinsCT (p.Leu1690=) n.5437_5438delinsCT | |
| 13 | g.32339793T>A | CA387785518 | BRCA2 | c.5438T>A (p.Leu1813His) c.5069T>A (p.Leu1690His) n.5438T>A | dbSNP |
| 13 | g.32339793T>C | CA022330 | BRCA2 | c.5438T>C (p.Leu1813Pro) c.5069T>C (p.Leu1690Pro) n.5438T>C | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32339793T>G | CA387785522 | BRCA2 | c.5438T>G (p.Leu1813Arg) c.5069T>G (p.Leu1690Arg) n.5438T>G | |
| 13 | g.32339793T= | CA2082823319 | BRCA2 | c.5438T= (p.Leu1813=) c.5069T= (p.Leu1690=) n.5438T= | |
| 13 | g.32339794dup | CA2499222197 | BRCA2 | c.5439dup (p.Val1814CysfsTer3) c.5070dup (p.Val1691CysfsTer3) n.5439dup | |
| 13 | g.32339794del | CA022334 | BRCA2 | c.5439del (p.Val1814Ter) c.5070del (p.Val1691Ter) n.5439del | ClinVar dbSNP |
| 13 | g.32339794T>A | CA483438406 | BRCA2 | c.5439T>A (p.Leu1813=) c.5070T>A (p.Leu1690=) n.5439T>A | |
| 13 | g.32339794T>C | CA483438407 | BRCA2 | c.5439T>C (p.Leu1813=) c.5070T>C (p.Leu1690=) n.5439T>C | ClinVar dbSNP |
| 13 | g.32339794T>G | CA483438408 | BRCA2 | c.5439T>G (p.Leu1813=) c.5070T>G (p.Leu1690=) n.5439T>G | |
| 13 | g.32339795G>A | CA387785527 | BRCA2 | c.5440G>A (p.Val1814Met) c.5071G>A (p.Val1691Met) n.5440G>A | dbSNP |
| 13 | g.32339795G>C | CA387785530 | BRCA2 | c.5440G>C (p.Val1814Leu) c.5071G>C (p.Val1691Leu) n.5440G>C | dbSNP |
| 13 | g.32339795G= | CA2082823331 | BRCA2 | c.5440G= (p.Val1814=) c.5071G= (p.Val1691=) n.5440G= | |
| 13 | g.32339795G>T | CA387785528 | BRCA2 | c.5440G>T (p.Val1814Leu) c.5071G>T (p.Val1691Leu) n.5440G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339796T>A | CA387785532 | BRCA2 | c.5441T>A (p.Val1814Glu) c.5072T>A (p.Val1691Glu) n.5441T>A | dbSNP |
| 13 | g.32339796T>C | CA387785535 | BRCA2 | c.5441T>C (p.Val1814Ala) c.5072T>C (p.Val1691Ala) n.5441T>C | |
| 13 | g.32339796T>G | CA387785541 | BRCA2 | c.5441T>G (p.Val1814Gly) c.5072T>G (p.Val1691Gly) n.5441T>G | dbSNP |
| 13 | g.32339797_32339800dup | CA10589313 | BRCA2 | c.5442_5445dup (p.Ser1816AspfsTer2) c.5073_5076dup (p.Ser1693AspfsTer2) n.5442_5445dup | ClinVar dbSNP |
| 13 | g.32339797G>A | CA483438411 | BRCA2 | c.5442G>A (p.Val1814=) c.5073G>A (p.Val1691=) n.5442G>A | ClinVar dbSNP |
| 13 | g.32339797G>C | CA483438412 | BRCA2 | c.5442G>C (p.Val1814=) c.5073G>C (p.Val1691=) n.5442G>C | ClinVar dbSNP |
| 13 | g.32339797G= | CA2082823363 | BRCA2 | c.5442G= (p.Val1814=) c.5073G= (p.Val1691=) n.5442G= | |
| 13 | g.32339797G>T | CA483438413 | BRCA2 | c.5442G>T (p.Val1814=) c.5073G>T (p.Val1691=) n.5442G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339797_32339799delinsGAC | CA2082823347 | BRCA2 | c.5442_5444delinsGAC (p.Val1814=) c.5073_5075delinsGAC (p.Val1691=) n.5442_5444delinsGAC | |
| 13 | g.32339797_32339799delinsTAA | CA16619725 | BRCA2 | c.5442_5444delinsTAA (p.Thr1815Asn) c.5073_5075delinsTAA (p.Thr1692Asn) n.5442_5444delinsTAA | ClinVar dbSNP |
| 13 | g.32339798A= | CA2082823384 | BRCA2 | c.5443A= (p.Thr1815=) c.5074A= (p.Thr1692=) n.5443A= | |
| 13 | g.32339798A>C | CA387785547 | BRCA2 | c.5443A>C (p.Thr1815Pro) c.5074A>C (p.Thr1692Pro) n.5443A>C | dbSNP |
| 13 | g.32339798A>G | CA387785550 | BRCA2 | c.5443A>G (p.Thr1815Ala) c.5074A>G (p.Thr1692Ala) n.5443A>G | ClinVar |
| 13 | g.32339798A>T | CA387785548 | BRCA2 | c.5443A>T (p.Thr1815Ser) c.5074A>T (p.Thr1692Ser) n.5443A>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339799C>A | CA387785552 | BRCA2 | c.5444C>A (p.Thr1815Asn) c.5075C>A (p.Thr1692Asn) n.5444C>A | ClinVar dbSNP |
| 13 | g.32339799C= | CA2082823396 | BRCA2 | c.5444C= (p.Thr1815=) c.5075C= (p.Thr1692=) n.5444C= | |
| 13 | g.32339799C>G | CA387785561 | BRCA2 | c.5444C>G (p.Thr1815Ser) c.5075C>G (p.Thr1692Ser) n.5444C>G | dbSNP |
| 13 | g.32339799C>T | CA022341 | BRCA2 | c.5444C>T (p.Thr1815Ile) c.5075C>T (p.Thr1692Ile) n.5444C>T | ClinVar dbSNP |
| 13 | g.32339801_32339804del | CA10654943 | BRCA2 | c.5446_5449del (p.Ser1816LeufsTer23) c.5077_5080del (p.Ser1693LeufsTer23) n.5446_5449del | |
| 13 | g.32339800T>A | CA483438417 | BRCA2 | c.5445T>A (p.Thr1815=) c.5076T>A (p.Thr1692=) n.5445T>A | dbSNP |
| 13 | g.32339800T>C | CA10583114 | BRCA2 | c.5445T>C (p.Thr1815=) c.5076T>C (p.Thr1692=) n.5445T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339800T>G | CA483438416 | BRCA2 | c.5445T>G (p.Thr1815=) c.5076T>G (p.Thr1692=) n.5445T>G | ClinVar dbSNP |
| 13 | g.32339800T= | CA2082823406 | BRCA2 | c.5445T= (p.Thr1815=) c.5076T= (p.Thr1692=) n.5445T= | |
| 13 | g.32339801A>C | CA387785569 | BRCA2 | c.5446A>C (p.Ser1816Arg) c.5077A>C (p.Ser1693Arg) n.5446A>C | |
| 13 | g.32339801A>G | CA387785570 | BRCA2 | c.5446A>G (p.Ser1816Gly) c.5077A>G (p.Ser1693Gly) n.5446A>G | ClinVar |
| 13 | g.32339801A>T | CA387785571 | BRCA2 | c.5446A>T (p.Ser1816Cys) c.5077A>T (p.Ser1693Cys) n.5446A>T | dbSNP |
| 13 | g.32339801dup | CA919242524 | BRCA2 | c.5446dup (p.Ser1816LysfsTer8) c.5077dup (p.Ser1693LysfsTer8) n.5446dup | dbSNP |
| 13 | g.32339802del | CA16621959 | BRCA2 | c.5447del (p.Ser1816ThrfsTer24) c.5078del (p.Ser1693ThrfsTer24) n.5447del | |
| 13 | g.32339802G>A | CA387785573 | BRCA2 | c.5447G>A (p.Ser1816Asn) c.5078G>A (p.Ser1693Asn) n.5447G>A | dbSNP |
| 13 | g.32339802G>C | CA387785576 | BRCA2 | c.5447G>C (p.Ser1816Thr) c.5078G>C (p.Ser1693Thr) n.5447G>C | dbSNP |
| 13 | g.32339802G= | CA2082823425 | BRCA2 | c.5447G= (p.Ser1816=) c.5078G= (p.Ser1693=) n.5447G= | |
| 13 | g.32339802G>T | CA387785577 | BRCA2 | c.5447G>T (p.Ser1816Ile) c.5078G>T (p.Ser1693Ile) n.5447G>T | ClinVar dbSNP |
| 13 | g.32339802dup | CA2838032183 | BRCA2 | c.5447dup (p.Ser1816ArgfsTer8) c.5078dup (p.Ser1693ArgfsTer8) n.5447dup | |
| 13 | g.32339803C>A | CA387785579 | BRCA2 | c.5448C>A (p.Ser1816Arg) c.5079C>A (p.Ser1693Arg) n.5448C>A | ClinVar dbSNP |
| 13 | g.32339803C= | CA2082823436 | BRCA2 | c.5448C= (p.Ser1816=) c.5079C= (p.Ser1693=) n.5448C= | |
| 13 | g.32339803C>G | CA387785581 | BRCA2 | c.5448C>G (p.Ser1816Arg) c.5079C>G (p.Ser1693Arg) n.5448C>G | dbSNP |
| 13 | g.32339803C>T | CA483438421 | BRCA2 | c.5448C>T (p.Ser1816=) c.5079C>T (p.Ser1693=) n.5448C>T | ClinVar dbSNP |
| 13 | g.32339804T>A | CA387785589 | BRCA2 | c.5449T>A (p.Ser1817Thr) c.5080T>A (p.Ser1694Thr) n.5449T>A | dbSNP |
| 13 | g.32339804T>C | CA387785586 | BRCA2 | c.5449T>C (p.Ser1817Pro) c.5080T>C (p.Ser1694Pro) n.5449T>C | ClinVar dbSNP |
| 13 | g.32339804T>G | CA10579655 | BRCA2 | c.5449T>G (p.Ser1817Ala) c.5080T>G (p.Ser1694Ala) n.5449T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339804T= | CA2082823451 | BRCA2 | c.5449T= (p.Ser1817=) c.5080T= (p.Ser1694=) n.5449T= | |
| 13 | g.32339805C>A | CA387785590 | BRCA2 | c.5450C>A (p.Ser1817Tyr) c.5081C>A (p.Ser1694Tyr) n.5450C>A | ClinVar dbSNP |
| 13 | g.32339805C= | CA2082823461 | BRCA2 | c.5450C= (p.Ser1817=) c.5081C= (p.Ser1694=) n.5450C= | |
| 13 | g.32339805C>G | CA6940871 | BRCA2 | c.5450C>G (p.Ser1817Cys) c.5081C>G (p.Ser1694Cys) n.5450C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339805C>T | CA387785593 | BRCA2 | c.5450C>T (p.Ser1817Phe) c.5081C>T (p.Ser1694Phe) n.5450C>T | ClinVar dbSNP |
| 13 | g.32339806T>A | CA483438424 | BRCA2 | c.5451T>A (p.Ser1817=) c.5082T>A (p.Ser1694=) n.5451T>A | dbSNP |
| 13 | g.32339806T>C | CA483438425 | BRCA2 | c.5451T>C (p.Ser1817=) c.5082T>C (p.Ser1694=) n.5451T>C | ClinVar dbSNP |
| 13 | g.32339806T>G | CA483438426 | BRCA2 | c.5451T>G (p.Ser1817=) c.5082T>G (p.Ser1694=) n.5451T>G | |
| 13 | g.32339806T= | CA2082823476 | BRCA2 | c.5451T= (p.Ser1817=) c.5082T= (p.Ser1694=) n.5451T= | |
| 13 | g.32339807T>A | CA387785595 | BRCA2 | c.5452T>A (p.Ser1818Thr) c.5083T>A (p.Ser1695Thr) n.5452T>A | |
| 13 | g.32339807T>C | CA387785597 | BRCA2 | c.5452T>C (p.Ser1818Pro) c.5083T>C (p.Ser1695Pro) n.5452T>C | |
| 13 | g.32339807T>G | CA387785599 | BRCA2 | c.5452T>G (p.Ser1818Ala) c.5083T>G (p.Ser1695Ala) n.5452T>G | |
| 13 | g.32339808C>A | CA387785604 | BRCA2 | c.5453C>A (p.Ser1818Ter) c.5084C>A (p.Ser1695Ter) n.5453C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339808C= | CA2082823489 | BRCA2 | c.5453C= (p.Ser1818=) c.5084C= (p.Ser1695=) n.5453C= | |
| 13 | g.32339808C>G | CA387785606 | BRCA2 | c.5453C>G (p.Ser1818Ter) c.5084C>G (p.Ser1695Ter) n.5453C>G | dbSNP |
| 13 | g.32339808C>T | CA387785608 | BRCA2 | c.5453C>T (p.Ser1818Leu) c.5084C>T (p.Ser1695Leu) n.5453C>T | dbSNP |
| 13 | g.32339808_32339809delinsCA | CA2082823486 | BRCA2 | c.5453_5454delinsCA (p.Ser1818=) c.5084_5085delinsCA (p.Ser1695=) n.5453_5454delinsCA | |
| 13 | g.32339809del | CA022345 | BRCA2 | c.5454del (p.Cys1820AlafsTer20) c.5085del (p.Cys1697AlafsTer20) n.5454del | ClinVar dbSNP |
| 13 | g.32339809A= | CA2082823517 | BRCA2 | c.5454A= (p.Ser1818=) c.5085A= (p.Ser1695=) n.5454A= | |
| 13 | g.32339809A>C | CA483438428 | BRCA2 | c.5454A>C (p.Ser1818=) c.5085A>C (p.Ser1695=) n.5454A>C | dbSNP |
| 13 | g.32339809A>G | CA16606685 | BRCA2 | c.5454A>G (p.Ser1818=) c.5085A>G (p.Ser1695=) n.5454A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339809A>T | CA483438430 | BRCA2 | c.5454A>T (p.Ser1818=) c.5085A>T (p.Ser1695=) n.5454A>T | dbSNP |
| 13 | g.32339810C>A | CA6940872 | BRCA2 | c.5455C>A (p.Pro1819Thr) c.5086C>A (p.Pro1696Thr) n.5455C>A | dbSNP ExAC gnomAD v2 |
| 13 | g.32339810C= | CA2082823528 | BRCA2 | c.5455C= (p.Pro1819=) c.5086C= (p.Pro1696=) n.5455C= | |
| 13 | g.32339810C>G | CA387785613 | BRCA2 | c.5455C>G (p.Pro1819Ala) c.5086C>G (p.Pro1696Ala) n.5455C>G | dbSNP |
| 13 | g.32339810C>T | CA022350 | BRCA2 | c.5455C>T (p.Pro1819Ser) c.5086C>T (p.Pro1696Ser) n.5455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339810_32339811delinsTT | CA2739277504 | BRCA2 | c.5455_5456delinsTT (p.Pro1819Phe) c.5086_5087delinsTT (p.Pro1696Phe) n.5455_5456delinsTT | ClinVar |
| 13 | g.32339811C>A | CA387785621 | BRCA2 | c.5456C>A (p.Pro1819His) c.5087C>A (p.Pro1696His) n.5456C>A | dbSNP |
| 13 | g.32339811C= | CA2082823540 | BRCA2 | c.5456C= (p.Pro1819=) c.5087C= (p.Pro1696=) n.5456C= | |
| 13 | g.32339811C>G | CA387785618 | BRCA2 | c.5456C>G (p.Pro1819Arg) c.5087C>G (p.Pro1696Arg) n.5456C>G | dbSNP |
| 13 | g.32339811C>T | CA10579656 | BRCA2 | c.5456C>T (p.Pro1819Leu) c.5087C>T (p.Pro1696Leu) n.5456C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339812C>A | CA483438435 | BRCA2 | c.5457C>A (p.Pro1819=) c.5088C>A (p.Pro1696=) n.5457C>A | dbSNP |
| 13 | g.32339812C= | CA2082823545 | BRCA2 | c.5457C= (p.Pro1819=) c.5088C= (p.Pro1696=) n.5457C= | |
| 13 | g.32339812C>G | CA483438436 | BRCA2 | c.5457C>G (p.Pro1819=) c.5088C>G (p.Pro1696=) n.5457C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339812C>T | CA16614176 | BRCA2 | c.5457C>T (p.Pro1819=) c.5088C>T (p.Pro1696=) n.5457C>T | ClinVar dbSNP |
| 13 | g.32339813T>A | CA387785624 | BRCA2 | c.5458T>A (p.Cys1820Ser) c.5089T>A (p.Cys1697Ser) n.5458T>A | dbSNP |
| 13 | g.32339813T>C | CA387785626 | BRCA2 | c.5458T>C (p.Cys1820Arg) c.5089T>C (p.Cys1697Arg) n.5458T>C | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32339813T>G | CA387785628 | BRCA2 | c.5458T>G (p.Cys1820Gly) c.5089T>G (p.Cys1697Gly) n.5458T>G | ClinVar dbSNP |
| 13 | g.32339813T= | CA2082823558 | BRCA2 | c.5458T= (p.Cys1820=) c.5089T= (p.Cys1697=) n.5458T= | |
| 13 | g.32339814G>A | CA387785630 | BRCA2 | c.5459G>A (p.Cys1820Tyr) c.5090G>A (p.Cys1697Tyr) n.5459G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339814G>C | CA387785631 | BRCA2 | c.5459G>C (p.Cys1820Ser) c.5090G>C (p.Cys1697Ser) n.5459G>C | ClinVar dbSNP |
| 13 | g.32339814G= | CA2082823577 | BRCA2 | c.5459G= (p.Cys1820=) c.5090G= (p.Cys1697=) n.5459G= | |
| 13 | g.32339814G>T | CA387785633 | BRCA2 | c.5459G>T (p.Cys1820Phe) c.5090G>T (p.Cys1697Phe) n.5459G>T | dbSNP |
| 13 | g.32339814_32339815dup | CA10589314 | BRCA2 | c.5459_5460dup (p.Lys1821AlafsTer20) c.5090_5091dup (p.Lys1698AlafsTer20) n.5459_5460dup | ClinVar dbSNP |
| 13 | g.32339815C>A | CA387785636 | BRCA2 | c.5460C>A (p.Cys1820Ter) c.5091C>A (p.Cys1697Ter) n.5460C>A | ClinVar dbSNP |
| 13 | g.32339815C= | CA2082823590 | BRCA2 | c.5460C= (p.Cys1820=) c.5091C= (p.Cys1697=) n.5460C= | |
| 13 | g.32339815C>G | CA387785638 | BRCA2 | c.5460C>G (p.Cys1820Trp) c.5091C>G (p.Cys1697Trp) n.5460C>G | dbSNP |
| 13 | g.32339815C>T | CA6940873 | BRCA2 | c.5460C>T (p.Cys1820=) c.5091C>T (p.Cys1697=) n.5460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339815_32339816delinsCA | CA2082823594 | BRCA2 | c.5460_5461delinsCA (p.Cys1820=) c.5091_5092delinsCA (p.Cys1697=) n.5460_5461delinsCA | |
| 13 | g.32339816A= | CA2082823618 | BRCA2 | c.5461A= (p.Lys1821=) c.5092A= (p.Lys1698=) n.5461A= | |
| 13 | g.32339816A>C | CA387785639 | BRCA2 | c.5461A>C (p.Lys1821Gln) c.5092A>C (p.Lys1698Gln) n.5461A>C | |
| 13 | g.32339816A>G | CA387785641 | BRCA2 | c.5461A>G (p.Lys1821Glu) c.5092A>G (p.Lys1698Glu) n.5461A>G | ClinVar dbSNP |
| 13 | g.32339816A>T | CA387785644 | BRCA2 | c.5461A>T (p.Lys1821Ter) c.5092A>T (p.Lys1698Ter) n.5461A>T | dbSNP |
| 13 | g.32339820dup | CA16619726 | BRCA2 | c.5465dup (p.Asn1822LysfsTer2) c.5096dup (p.Asn1699LysfsTer2) n.5465dup | ClinVar dbSNP |
| 13 | g.32339820del | CA891844236 | BRCA2 | c.5465del (p.Asn1822IlefsTer18) c.5096del (p.Asn1699IlefsTer18) n.5465del | ClinVar dbSNP |
| 13 | g.32339817A= | CA2082823625 | BRCA2 | c.5462A= (p.Lys1821=) c.5093A= (p.Lys1698=) n.5462A= | |
| 13 | g.32339817A>C | CA387785649 | BRCA2 | c.5462A>C (p.Lys1821Thr) c.5093A>C (p.Lys1698Thr) n.5462A>C | |
| 13 | g.32339817A>G | CA387785647 | BRCA2 | c.5462A>G (p.Lys1821Arg) c.5093A>G (p.Lys1698Arg) n.5462A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339817A>T | CA387785645 | BRCA2 | c.5462A>T (p.Lys1821Ile) c.5093A>T (p.Lys1698Ile) n.5462A>T | dbSNP |
| 13 | g.32339818A>C | CA387785651 | BRCA2 | c.5463A>C (p.Lys1821Asn) c.5094A>C (p.Lys1698Asn) n.5463A>C | gnomAD v4 |
| 13 | g.32339818A>G | CA483438441 | BRCA2 | c.5463A>G (p.Lys1821=) c.5094A>G (p.Lys1698=) n.5463A>G | |
| 13 | g.32339818A>T | CA387785653 | BRCA2 | c.5463A>T (p.Lys1821Asn) c.5094A>T (p.Lys1698Asn) n.5463A>T | |
| 13 | g.32339819A>C | CA387785656 | BRCA2 | c.5464A>C (p.Asn1822His) c.5095A>C (p.Asn1699His) n.5464A>C | |
| 13 | g.32339819A>G | CA387785657 | BRCA2 | c.5464A>G (p.Asn1822Asp) c.5095A>G (p.Asn1699Asp) n.5464A>G | |
| 13 | g.32339819A>T | CA387785658 | BRCA2 | c.5464A>T (p.Asn1822Tyr) c.5095A>T (p.Asn1699Tyr) n.5464A>T | |
| 13 | g.32339820A= | CA2082823640 | BRCA2 | c.5465A= (p.Asn1822=) c.5096A= (p.Asn1699=) n.5465A= | |
| 13 | g.32339820A>C | CA387785660 | BRCA2 | c.5465A>C (p.Asn1822Thr) c.5096A>C (p.Asn1699Thr) n.5465A>C | dbSNP |
| 13 | g.32339820A>G | CA022360 | BRCA2 | c.5465A>G (p.Asn1822Ser) c.5096A>G (p.Asn1699Ser) n.5465A>G | ClinVar dbSNP |
| 13 | g.32339820A>T | CA022364 | BRCA2 | c.5465A>T (p.Asn1822Ile) c.5096A>T (p.Asn1699Ile) n.5465A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339821T>A | CA6940874 | BRCA2 | c.5466T>A (p.Asn1822Lys) c.5097T>A (p.Asn1699Lys) n.5466T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339821T>C | CA483438449 | BRCA2 | c.5466T>C (p.Asn1822=) c.5097T>C (p.Asn1699=) n.5466T>C | ClinVar dbSNP |
| 13 | g.32339821T>G | CA387785662 | BRCA2 | c.5466T>G (p.Asn1822Lys) c.5097T>G (p.Asn1699Lys) n.5466T>G | |
| 13 | g.32339821T= | CA2082823647 | BRCA2 | c.5466T= (p.Asn1822=) c.5097T= (p.Asn1699=) n.5466T= | |
| 13 | g.32339821dup | CA022369 | BRCA2 | c.5466dup (p.Lys1823Ter) c.5097dup (p.Lys1700Ter) n.5466dup | ClinVar dbSNP |
| 13 | g.32339821_32339823delinsTAA | CA2082823646 | BRCA2 | c.5466_5468delinsTAA (p.Asn1822=) c.5097_5099delinsTAA (p.Asn1699=) n.5466_5468delinsTAA | |
| 13 | g.32339822A= | CA2082823664 | BRCA2 | c.5467A= (p.Lys1823=) c.5098A= (p.Lys1700=) n.5467A= | |
| 13 | g.32339822A>C | CA022376 | BRCA2 | c.5467A>C (p.Lys1823Gln) c.5098A>C (p.Lys1700Gln) n.5467A>C | ClinVar dbSNP |
| 13 | g.32339822A>G | CA022382 | BRCA2 | c.5467A>G (p.Lys1823Glu) c.5098A>G (p.Lys1700Glu) n.5467A>G | ClinVar dbSNP |
| 13 | g.32339822A>T | CA387785666 | BRCA2 | c.5467A>T (p.Lys1823Ter) c.5098A>T (p.Lys1700Ter) n.5467A>T | ClinVar dbSNP |
| 13 | g.32339826dup | CA022391 | BRCA2 | c.5471dup (p.Asn1824LysfsTer5) c.5102dup (p.Asn1701LysfsTer5) n.5471dup | ClinVar dbSNP |
| 13 | g.32339826del | CA022402 | BRCA2 | c.5471del (p.Asn1824MetfsTer16) c.5102del (p.Asn1701MetfsTer16) n.5471del | ClinVar dbSNP |
| 13 | g.32339825_32339826del | CA022385 | BRCA2 | c.5470_5471del (p.Asn1824CysfsTer4) c.5101_5102del (p.Asn1701CysfsTer4) n.5470_5471del | ClinVar dbSNP |
| 13 | g.32339823_32339830dup | CA2825002159 | BRCA2 | c.5468_5475dup (p.Ala1826LysfsTer17) c.5099_5106dup (p.Ala1703LysfsTer17) n.5468_5475dup | ClinVar |
| 13 | g.32339823A>C | CA387785670 | BRCA2 | c.5468A>C (p.Lys1823Thr) c.5099A>C (p.Lys1700Thr) n.5468A>C | |
| 13 | g.32339823A>G | CA387785669 | BRCA2 | c.5468A>G (p.Lys1823Arg) c.5099A>G (p.Lys1700Arg) n.5468A>G | ClinVar dbSNP |
| 13 | g.32339823A>T | CA387785668 | BRCA2 | c.5468A>T (p.Lys1823Ile) c.5099A>T (p.Lys1700Ile) n.5468A>T | dbSNP |
| 13 | g.32339824A= | CA2082823681 | BRCA2 | c.5469A= (p.Lys1823=) c.5100A= (p.Lys1700=) n.5469A= | |
| 13 | g.32339824A>C | CA6940875 | BRCA2 | c.5469A>C (p.Lys1823Asn) c.5100A>C (p.Lys1700Asn) n.5469A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339824A>G | CA483438454 | BRCA2 | c.5469A>G (p.Lys1823=) c.5100A>G (p.Lys1700=) n.5469A>G | |
| 13 | g.32339824A>T | CA387785672 | BRCA2 | c.5469A>T (p.Lys1823Asn) c.5100A>T (p.Lys1700Asn) n.5469A>T | dbSNP |
| 13 | g.32339825A>C | CA387785674 | BRCA2 | c.5470A>C (p.Asn1824His) c.5101A>C (p.Asn1701His) n.5470A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339825A>G | CA387785676 | BRCA2 | c.5470A>G (p.Asn1824Asp) c.5101A>G (p.Asn1701Asp) n.5470A>G | |
| 13 | g.32339825A>T | CA387785678 | BRCA2 | c.5470A>T (p.Asn1824Tyr) c.5101A>T (p.Asn1701Tyr) n.5470A>T | |
| 13 | g.32339825_32339826insCCAAACACACCCAACAC | CA2798719391 | BRCA2 | c.5470_5471insCCAAACACACCCAACAC (p.Asn1824ThrfsTer22) c.5101_5102insCCAAACACACCCAACAC (p.Asn1701ThrfsTer22) n.5470_5471insCCAAACACACCCAACAC | |
| 13 | g.32339826A= | CA2082823694 | BRCA2 | c.5471A= (p.Asn1824=) c.5102A= (p.Asn1701=) n.5471A= | |
| 13 | g.32339826A>C | CA387785679 | BRCA2 | c.5471A>C (p.Asn1824Thr) c.5102A>C (p.Asn1701Thr) n.5471A>C | |
| 13 | g.32339826A>G | CA022396 | BRCA2 | c.5471A>G (p.Asn1824Ser) c.5102A>G (p.Asn1701Ser) n.5471A>G | ClinVar dbSNP |
| 13 | g.32339826A>T | CA387785680 | BRCA2 | c.5471A>T (p.Asn1824Ile) c.5102A>T (p.Asn1701Ile) n.5471A>T | dbSNP |
| 13 | g.32339827T>A | CA387785681 | BRCA2 | c.5472T>A (p.Asn1824Lys) c.5103T>A (p.Asn1701Lys) n.5472T>A | dbSNP |
| 13 | g.32339827T>C | CA6940876 | BRCA2 | c.5472T>C (p.Asn1824=) c.5103T>C (p.Asn1701=) n.5472T>C | ClinVar dbSNP ExAC |
| 13 | g.32339827T>G | CA6940877 | BRCA2 | c.5472T>G (p.Asn1824Lys) c.5103T>G (p.Asn1701Lys) n.5472T>G | ClinVar dbSNP ExAC |
| 13 | g.32339827T= | CA2082823707 | BRCA2 | c.5472T= (p.Asn1824=) c.5103T= (p.Asn1701=) n.5472T= | |
| 13 | g.32339827dup | CA658656393 | BRCA2 | c.5472dup (p.Ala1825CysfsTer4) c.5103dup (p.Ala1702CysfsTer4) n.5472dup | ClinVar dbSNP |
| 13 | g.32339827_32339828insA | CA10589315 | BRCA2 | c.5472_5473insA (p.Ala1825SerfsTer4) c.5103_5104insA (p.Ala1702SerfsTer4) n.5472_5473insA | ClinVar dbSNP |
| 13 | g.32339828G>A | CA387785688 | BRCA2 | c.5473G>A (p.Ala1825Thr) c.5104G>A (p.Ala1702Thr) n.5473G>A | ClinVar dbSNP |
| 13 | g.32339828G>C | CA6940878 | BRCA2 | c.5473G>C (p.Ala1825Pro) c.5104G>C (p.Ala1702Pro) n.5473G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339828G= | CA2082823719 | BRCA2 | c.5473G= (p.Ala1825=) c.5104G= (p.Ala1702=) n.5473G= | |
| 13 | g.32339828G>T | CA387785686 | BRCA2 | c.5473G>T (p.Ala1825Ser) c.5104G>T (p.Ala1702Ser) n.5473G>T | dbSNP |
| 13 | g.32339829C>A | CA387785692 | BRCA2 | c.5474C>A (p.Ala1825Glu) c.5105C>A (p.Ala1702Glu) n.5474C>A | dbSNP |
| 13 | g.32339829C= | CA2082823724 | BRCA2 | c.5474C= (p.Ala1825=) c.5105C= (p.Ala1702=) n.5474C= | |
| 13 | g.32339829C>G | CA387785694 | BRCA2 | c.5474C>G (p.Ala1825Gly) c.5105C>G (p.Ala1702Gly) n.5474C>G | ClinVar dbSNP |
| 13 | g.32339829C>T | CA022409 | BRCA2 | c.5474C>T (p.Ala1825Val) c.5105C>T (p.Ala1702Val) n.5474C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339831_32339834dup | CA2695217891 | BRCA2 | c.5476_5479dup (p.Ile1827SerfsTer3) c.5107_5110dup (p.Ile1704SerfsTer3) n.5476_5479dup | |
| 13 | g.32339830A>C | CA483438459 | BRCA2 | c.5475A>C (p.Ala1825=) c.5106A>C (p.Ala1702=) n.5475A>C | |
| 13 | g.32339830A>G | CA483438461 | BRCA2 | c.5475A>G (p.Ala1825=) c.5106A>G (p.Ala1702=) n.5475A>G | ClinVar dbSNP |
| 13 | g.32339830A>T | CA483438463 | BRCA2 | c.5475A>T (p.Ala1825=) c.5106A>T (p.Ala1702=) n.5475A>T | dbSNP |
| 13 | g.32339831G>A | CA387785697 | BRCA2 | c.5476G>A (p.Ala1826Thr) c.5107G>A (p.Ala1703Thr) n.5476G>A | ClinVar dbSNP |
| 13 | g.32339831G>C | CA387785698 | BRCA2 | c.5476G>C (p.Ala1826Pro) c.5107G>C (p.Ala1703Pro) n.5476G>C | ClinVar dbSNP |
| 13 | g.32339831G= | CA2082823729 | BRCA2 | c.5476G= (p.Ala1826=) c.5107G= (p.Ala1703=) n.5476G= | |
| 13 | g.32339831G>T | CA387785700 | BRCA2 | c.5476G>T (p.Ala1826Ser) c.5107G>T (p.Ala1703Ser) n.5476G>T | dbSNP |
| 13 | g.32339832C>A | CA387785702 | BRCA2 | c.5477C>A (p.Ala1826Asp) c.5108C>A (p.Ala1703Asp) n.5477C>A | dbSNP |
| 13 | g.32339832C>G | CA387785703 | BRCA2 | c.5477C>G (p.Ala1826Gly) c.5108C>G (p.Ala1703Gly) n.5477C>G | dbSNP |
| 13 | g.32339832C>T | CA387785705 | BRCA2 | c.5477C>T (p.Ala1826Val) c.5108C>T (p.Ala1703Val) n.5477C>T | ClinVar dbSNP |
| 13 | g.32339833C>A | CA483438469 | BRCA2 | c.5478C>A (p.Ala1826=) c.5109C>A (p.Ala1703=) n.5478C>A | dbSNP |
| 13 | g.32339833C>G | CA483438470 | BRCA2 | c.5478C>G (p.Ala1826=) c.5109C>G (p.Ala1703=) n.5478C>G | dbSNP |
| 13 | g.32339833C>T | CA483438471 | BRCA2 | c.5478C>T (p.Ala1826=) c.5109C>T (p.Ala1703=) n.5478C>T | dbSNP |
| 13 | g.32339833_32339837delinsCATTA | CA2082823738 | BRCA2 | c.5478_5482delinsCATTA (p.Ala1826=) c.5109_5113delinsCATTA (p.Ala1703=) n.5478_5482delinsCATTA | |
| 13 | g.32339833_32339838delinsCATTAA | CA2082823737 | BRCA2 | c.5478_5483delinsCATTAA (p.Ala1826=) c.5109_5114delinsCATTAA (p.Ala1703=) n.5478_5483delinsCATTAA | |
| 13 | g.32339834del | CA2499222198 | BRCA2 | c.5479del (p.Ile1827LeufsTer13) c.5110del (p.Ile1704LeufsTer13) n.5479del | dbSNP |
| 13 | g.32339834A= | CA2082823753 | BRCA2 | c.5479A= (p.Ile1827=) c.5110A= (p.Ile1704=) n.5479A= | |
| 13 | g.32339834A>C | CA387785708 | BRCA2 | c.5479A>C (p.Ile1827Leu) c.5110A>C (p.Ile1704Leu) n.5479A>C | |
| 13 | g.32339834A>G | CA022413 | BRCA2 | c.5479A>G (p.Ile1827Val) c.5110A>G (p.Ile1704Val) n.5479A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339834A>T | CA387785710 | BRCA2 | c.5479A>T (p.Ile1827Phe) c.5110A>T (p.Ile1704Phe) n.5479A>T | dbSNP |
| 13 | g.32339834_32339835delinsAT | CA2082823755 | BRCA2 | c.5479_5480delinsAT (p.Ile1827=) c.5110_5111delinsAT (p.Ile1704=) n.5479_5480delinsAT | |
| 13 | g.32339834_32339837delinsTTT | CA1139663221 | BRCA2 | c.5479_5482delinsTTT (p.Ile1827PhefsTer13) c.5110_5113delinsTTT (p.Ile1704PhefsTer13) n.5479_5482delinsTTT | ClinVar dbSNP |
| 13 | g.32339837_32339841del | CA022418 | BRCA2 | c.5482_5486del (p.Lys1828ValfsTer4) c.5113_5117del (p.Lys1705ValfsTer4) n.5482_5486del | ClinVar dbSNP |
| 13 | g.32339835T>A | CA387785716 | BRCA2 | c.5480T>A (p.Ile1827Asn) c.5111T>A (p.Ile1704Asn) n.5480T>A | dbSNP |
| 13 | g.32339835T>C | CA387785715 | BRCA2 | c.5480T>C (p.Ile1827Thr) c.5111T>C (p.Ile1704Thr) n.5480T>C | dbSNP |
| 13 | g.32339835T>G | CA387785713 | BRCA2 | c.5480T>G (p.Ile1827Ser) c.5111T>G (p.Ile1704Ser) n.5480T>G | dbSNP |
| 13 | g.32339836del | CA919242528 | BRCA2 | c.5481del (p.Lys1828AsnfsTer12) c.5112del (p.Lys1705AsnfsTer12) n.5481del | dbSNP |
| 13 | g.32339836T>A | CA483438477 | BRCA2 | c.5481T>A (p.Ile1827=) c.5112T>A (p.Ile1704=) n.5481T>A | |
| 13 | g.32339836T>C | CA483438481 | BRCA2 | c.5481T>C (p.Ile1827=) c.5112T>C (p.Ile1704=) n.5481T>C | dbSNP |
| 13 | g.32339836T>G | CA387785718 | BRCA2 | c.5481T>G (p.Ile1827Met) c.5112T>G (p.Ile1704Met) n.5481T>G | |
| 13 | g.32339836T= | CA2082823765 | BRCA2 | c.5481T= (p.Ile1827=) c.5112T= (p.Ile1704=) n.5481T= | |
| 13 | g.32339837A>C | CA387785720 | BRCA2 | c.5482A>C (p.Lys1828Gln) c.5113A>C (p.Lys1705Gln) n.5482A>C | dbSNP |
| 13 | g.32339837A>G | CA387785722 | BRCA2 | c.5482A>G (p.Lys1828Glu) c.5113A>G (p.Lys1705Glu) n.5482A>G | ClinVar dbSNP |
| 13 | g.32339837A>T | CA387785724 | BRCA2 | c.5482A>T (p.Lys1828Ter) c.5113A>T (p.Lys1705Ter) n.5482A>T | dbSNP |
| 13 | g.32339838A= | CA2082823770 | BRCA2 | c.5483A= (p.Lys1828=) c.5114A= (p.Lys1705=) n.5483A= | |
| 13 | g.32339838A>C | CA387785726 | BRCA2 | c.5483A>C (p.Lys1828Thr) c.5114A>C (p.Lys1705Thr) n.5483A>C | dbSNP |
| 13 | g.32339838A>G | CA10586074 | BRCA2 | c.5483A>G (p.Lys1828Arg) c.5114A>G (p.Lys1705Arg) n.5483A>G | ClinVar dbSNP |
| 13 | g.32339838A>T | CA387785729 | BRCA2 | c.5483A>T (p.Lys1828Ile) c.5114A>T (p.Lys1705Ile) n.5483A>T | ClinVar dbSNP |
| 13 | g.32339839A= | CA2082823799 | BRCA2 | c.5484A= (p.Lys1828=) c.5115A= (p.Lys1705=) n.5484A= | |
| 13 | g.32339839A>C | CA387785731 | BRCA2 | c.5484A>C (p.Lys1828Asn) c.5115A>C (p.Lys1705Asn) n.5484A>C | dbSNP |
| 13 | g.32339839A>G | CA483438483 | BRCA2 | c.5484A>G (p.Lys1828=) c.5115A>G (p.Lys1705=) n.5484A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339839A>T | CA387785733 | BRCA2 | c.5484A>T (p.Lys1828Asn) c.5115A>T (p.Lys1705Asn) n.5484A>T | dbSNP |
| 13 | g.32339839_32339840delinsAT | CA2082823784 | BRCA2 | c.5484_5485delinsAT (p.Lys1828=) c.5115_5116delinsAT (p.Lys1705=) n.5484_5485delinsAT | |
| 13 | g.32339840T>A | CA387785735 | BRCA2 | c.5485T>A (p.Leu1829Met) c.5116T>A (p.Leu1706Met) n.5485T>A | |
| 13 | g.32339840T>C | CA483438484 | BRCA2 | c.5485T>C (p.Leu1829=) c.5116T>C (p.Leu1706=) n.5485T>C | ClinVar dbSNP |
| 13 | g.32339840T>G | CA387785736 | BRCA2 | c.5485T>G (p.Leu1829Val) c.5116T>G (p.Leu1706Val) n.5485T>G | |
| 13 | g.32339841del | CA10586541 | BRCA2 | c.5486del (p.Leu1829CysfsTer11) c.5117del (p.Leu1706CysfsTer11) n.5486del | ClinVar dbSNP |
| 13 | g.32339840_32339842delinsTTG | CA2082823809 | BRCA2 | c.5485_5487delinsTTG (p.Leu1829=) c.5116_5118delinsTTG (p.Leu1706=) n.5485_5487delinsTTG | |
| 13 | g.32339841T>A | CA387785743 | BRCA2 | c.5486T>A (p.Leu1829Ter) c.5117T>A (p.Leu1706Ter) n.5486T>A | ClinVar dbSNP |
| 13 | g.32339841T>C | CA387785739 | BRCA2 | c.5486T>C (p.Leu1829Ser) c.5117T>C (p.Leu1706Ser) n.5486T>C | ClinVar dbSNP |
| 13 | g.32339841T>G | CA387785741 | BRCA2 | c.5486T>G (p.Leu1829Trp) c.5117T>G (p.Leu1706Trp) n.5486T>G | |
| 13 | g.32339841T= | CA2082823819 | BRCA2 | c.5486T= (p.Leu1829=) c.5117T= (p.Leu1706=) n.5486T= | |
| 13 | g.32339842_32339843del | CA16042141 | BRCA2 | c.5487_5488del (p.Leu1829PhefsTer4) c.5118_5119del (p.Leu1706PhefsTer4) n.5487_5488del | ClinVar dbSNP |
| 13 | g.32339842G>A | CA483438485 | BRCA2 | c.5487G>A (p.Leu1829=) c.5118G>A (p.Leu1706=) n.5487G>A | ClinVar dbSNP |
| 13 | g.32339842G>C | CA387785744 | BRCA2 | c.5487G>C (p.Leu1829Phe) c.5118G>C (p.Leu1706Phe) n.5487G>C | ClinVar dbSNP |
| 13 | g.32339842G= | CA2082823832 | BRCA2 | c.5487G= (p.Leu1829=) c.5118G= (p.Leu1706=) n.5487G= | |
| 13 | g.32339842G>T | CA6940879 | BRCA2 | c.5487G>T (p.Leu1829Phe) c.5118G>T (p.Leu1706Phe) n.5487G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339842dup | CA2695217892 | BRCA2 | c.5487dup (p.Ser1830ValfsTer4) c.5118dup (p.Ser1707ValfsTer4) n.5487dup | |
| 13 | g.32339843T>A | CA387785746 | BRCA2 | c.5488T>A (p.Ser1830Thr) c.5119T>A (p.Ser1707Thr) n.5488T>A | |
| 13 | g.32339843T>C | CA387785748 | BRCA2 | c.5488T>C (p.Ser1830Pro) c.5119T>C (p.Ser1707Pro) n.5488T>C | |
| 13 | g.32339843T>G | CA387785750 | BRCA2 | c.5488T>G (p.Ser1830Ala) c.5119T>G (p.Ser1707Ala) n.5488T>G | |
| 13 | g.32339844C>A | CA387785752 | BRCA2 | c.5489C>A (p.Ser1830Tyr) c.5120C>A (p.Ser1707Tyr) n.5489C>A | dbSNP |
| 13 | g.32339844C= | CA2082823841 | BRCA2 | c.5489C= (p.Ser1830=) c.5120C= (p.Ser1707=) n.5489C= | |
| 13 | g.32339844C>G | CA387785753 | BRCA2 | c.5489C>G (p.Ser1830Cys) c.5120C>G (p.Ser1707Cys) n.5489C>G | ClinVar dbSNP |
| 13 | g.32339844C>T | CA387785755 | BRCA2 | c.5489C>T (p.Ser1830Phe) c.5120C>T (p.Ser1707Phe) n.5489C>T | ClinVar dbSNP |
| 13 | g.32339845C>A | CA483438488 | BRCA2 | c.5490C>A (p.Ser1830=) c.5121C>A (p.Ser1707=) n.5490C>A | dbSNP |
| 13 | g.32339845C= | CA2082823858 | BRCA2 | c.5490C= (p.Ser1830=) c.5121C= (p.Ser1707=) n.5490C= | |
| 13 | g.32339845C>G | CA483438489 | BRCA2 | c.5490C>G (p.Ser1830=) c.5121C>G (p.Ser1707=) n.5490C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339845C>T | CA022426 | BRCA2 | c.5490C>T (p.Ser1830=) c.5121C>T (p.Ser1707=) n.5490C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339846A= | CA2082823871 | BRCA2 | c.5491A= (p.Ile1831=) c.5122A= (p.Ile1708=) n.5491A= | |
| 13 | g.32339846A>C | CA387785758 | BRCA2 | c.5491A>C (p.Ile1831Leu) c.5122A>C (p.Ile1708Leu) n.5491A>C | ClinVar dbSNP |
| 13 | g.32339846A>G | CA387785762 | BRCA2 | c.5491A>G (p.Ile1831Val) c.5122A>G (p.Ile1708Val) n.5491A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339846A>T | CA387785760 | BRCA2 | c.5491A>T (p.Ile1831Leu) c.5122A>T (p.Ile1708Leu) n.5491A>T | ClinVar dbSNP |
| 13 | g.32339847T>A | CA387785763 | BRCA2 | c.5492T>A (p.Ile1831Lys) c.5123T>A (p.Ile1708Lys) n.5492T>A | |
| 13 | g.32339847T>C | CA022439 | BRCA2 | c.5492T>C (p.Ile1831Thr) c.5123T>C (p.Ile1708Thr) n.5492T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339847T>G | CA387785765 | BRCA2 | c.5492T>G (p.Ile1831Arg) c.5123T>G (p.Ile1708Arg) n.5492T>G | |
| 13 | g.32339847T= | CA2082823889 | BRCA2 | c.5492T= (p.Ile1831=) c.5123T= (p.Ile1708=) n.5492T= | |
| 13 | g.32339847dup | CA022431 | BRCA2 | c.5492dup (p.Ser1832IlefsTer2) c.5123dup (p.Ser1709IlefsTer2) n.5492dup | ClinVar dbSNP |
| 13 | g.32339848A= | CA2082823895 | BRCA2 | c.5493A= (p.Ile1831=) c.5124A= (p.Ile1708=) n.5493A= | |
| 13 | g.32339848A>C | CA483438492 | BRCA2 | c.5493A>C (p.Ile1831=) c.5124A>C (p.Ile1708=) n.5493A>C | |
| 13 | g.32339848A>G | CA387785768 | BRCA2 | c.5493A>G (p.Ile1831Met) c.5124A>G (p.Ile1708Met) n.5493A>G | ClinVar dbSNP |
| 13 | g.32339848A>T | CA483438493 | BRCA2 | c.5493A>T (p.Ile1831=) c.5124A>T (p.Ile1708=) n.5493A>T | dbSNP |
| 13 | g.32339849T>A | CA387785771 | BRCA2 | c.5494T>A (p.Ser1832Thr) c.5125T>A (p.Ser1709Thr) n.5494T>A | dbSNP |
| 13 | g.32339849T>C | CA387785769 | BRCA2 | c.5494T>C (p.Ser1832Pro) c.5125T>C (p.Ser1709Pro) n.5494T>C | ClinVar dbSNP |
| 13 | g.32339849T>G | CA387785770 | BRCA2 | c.5494T>G (p.Ser1832Ala) c.5125T>G (p.Ser1709Ala) n.5494T>G | |
| 13 | g.32339849T= | CA2082823905 | BRCA2 | c.5494T= (p.Ser1832=) c.5125T= (p.Ser1709=) n.5494T= | |
| 13 | g.32339849_32339850delinsTC | CA2082823908 | BRCA2 | c.5494_5495delinsTC (p.Ser1832=) c.5125_5126delinsTC (p.Ser1709=) n.5494_5495delinsTC | |
| 13 | g.32339850del | CA919242530 | BRCA2 | c.5495del (p.Ser1832LeufsTer8) c.5126del (p.Ser1709LeufsTer8) n.5495del | ClinVar dbSNP |
| 13 | g.32339850C>A | CA022441 | BRCA2 | c.5495C>A (p.Ser1832Tyr) c.5126C>A (p.Ser1709Tyr) n.5495C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339850C= | CA2082823919 | BRCA2 | c.5495C= (p.Ser1832=) c.5126C= (p.Ser1709=) n.5495C= | |
| 13 | g.32339850C>G | CA022446 | BRCA2 | c.5495C>G (p.Ser1832Cys) c.5126C>G (p.Ser1709Cys) n.5495C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339850C>T | CA387785775 | BRCA2 | c.5495C>T (p.Ser1832Phe) c.5126C>T (p.Ser1709Phe) n.5495C>T | ClinVar dbSNP |
| 13 | g.32339851T>A | CA483438495 | BRCA2 | c.5496T>A (p.Ser1832=) c.5127T>A (p.Ser1709=) n.5496T>A | |
| 13 | g.32339851T>C | CA483438496 | BRCA2 | c.5496T>C (p.Ser1832=) c.5127T>C (p.Ser1709=) n.5496T>C | |
| 13 | g.32339851T>G | CA483438497 | BRCA2 | c.5496T>G (p.Ser1832=) c.5127T>G (p.Ser1709=) n.5496T>G | |
| 13 | g.32339851dup | CA198047 | BRCA2 | c.5496dup (p.Asn1833Ter) c.5127dup (p.Asn1710Ter) n.5496dup | ClinVar dbSNP |
| 13 | g.32339851_32339852delinsTA | CA2082823937 | BRCA2 | c.5496_5497delinsTA (p.Ser1832=) c.5127_5128delinsTA (p.Ser1709=) n.5496_5497delinsTA | |
| 13 | g.32339852A= | CA2082823945 | BRCA2 | c.5497A= (p.Asn1833=) c.5128A= (p.Asn1710=) n.5497A= | |
| 13 | g.32339852A>C | CA387785777 | BRCA2 | c.5497A>C (p.Asn1833His) c.5128A>C (p.Asn1710His) n.5497A>C | |
| 13 | g.32339852A>G | CA387785779 | BRCA2 | c.5497A>G (p.Asn1833Asp) c.5128A>G (p.Asn1710Asp) n.5497A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339852A>T | CA387785781 | BRCA2 | c.5497A>T (p.Asn1833Tyr) c.5128A>T (p.Asn1710Tyr) n.5497A>T | dbSNP |
| 13 | g.32339853del | CA022455 | BRCA2 | c.5498del (p.Asn1833IlefsTer7) c.5129del (p.Asn1710IlefsTer7) n.5498del | ClinVar dbSNP |
| 13 | g.32339853A= | CA2082823957 | BRCA2 | c.5498A= (p.Asn1833=) c.5129A= (p.Asn1710=) n.5498A= | |
| 13 | g.32339853A>C | CA387785784 | BRCA2 | c.5498A>C (p.Asn1833Thr) c.5129A>C (p.Asn1710Thr) n.5498A>C | |
| 13 | g.32339853A>G | CA022451 | BRCA2 | c.5498A>G (p.Asn1833Ser) c.5129A>G (p.Asn1710Ser) n.5498A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339853A>T | CA387785786 | BRCA2 | c.5498A>T (p.Asn1833Ile) c.5129A>T (p.Asn1710Ile) n.5498A>T | dbSNP |
| 13 | g.32339854T>A | CA387785788 | BRCA2 | c.5499T>A (p.Asn1833Lys) c.5130T>A (p.Asn1710Lys) n.5499T>A | dbSNP |
| 13 | g.32339854T>C | CA483438503 | BRCA2 | c.5499T>C (p.Asn1833=) c.5130T>C (p.Asn1710=) n.5499T>C | ClinVar dbSNP |
| 13 | g.32339854T>G | CA387785790 | BRCA2 | c.5499T>G (p.Asn1833Lys) c.5130T>G (p.Asn1710Lys) n.5499T>G | dbSNP gnomAD v4 |
| 13 | g.32339854T= | CA2082823967 | BRCA2 | c.5499T= (p.Asn1833=) c.5130T= (p.Asn1710=) n.5499T= | |
| 13 | g.32339856_32339858del | CA2695217893 | BRCA2 | c.5501_5503del (p.Ser1834del) c.5132_5134del (p.Ser1711del) n.5501_5503del | |
| 13 | g.32339855A= | CA2082823976 | BRCA2 | c.5500A= (p.Ser1834=) c.5131A= (p.Ser1711=) n.5500A= | |
| 13 | g.32339855A>C | CA387785793 | BRCA2 | c.5500A>C (p.Ser1834Arg) c.5131A>C (p.Ser1711Arg) n.5500A>C | COSMIC COSMIC |
| 13 | g.32339855A>G | CA6940880 | BRCA2 | c.5500A>G (p.Ser1834Gly) c.5131A>G (p.Ser1711Gly) n.5500A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339855A>T | CA387785794 | BRCA2 | c.5500A>T (p.Ser1834Cys) c.5131A>T (p.Ser1711Cys) n.5500A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339855_32339856del | CA2580087598 | BRCA2 | c.5500_5501del (p.Ser1834Ter) c.5131_5132del (p.Ser1711Ter) n.5500_5501del | ClinVar |
| 13 | g.32339856_32339859del | CA2580087599 | BRCA2 | c.5501_5504del (p.Ser1834IlefsTer5) c.5132_5135del (p.Ser1711IlefsTer5) n.5501_5504del | ClinVar |
| 13 | g.32339856G>A | CA387785797 | BRCA2 | c.5501G>A (p.Ser1834Asn) c.5132G>A (p.Ser1711Asn) n.5501G>A | dbSNP |
| 13 | g.32339856G>C | CA387785798 | BRCA2 | c.5501G>C (p.Ser1834Thr) c.5132G>C (p.Ser1711Thr) n.5501G>C | |
| 13 | g.32339856G>T | CA387785800 | BRCA2 | c.5501G>T (p.Ser1834Ile) c.5132G>T (p.Ser1711Ile) n.5501G>T | gnomAD v4 |
| 13 | g.32339856_32339859delinsGTAA | CA2082823981 | BRCA2 | c.5501_5504delinsGTAA (p.Ser1834=) c.5132_5135delinsGTAA (p.Ser1711=) n.5501_5504delinsGTAA | |
| 13 | g.32339857T>A | CA387785802 | BRCA2 | c.5502T>A (p.Ser1834Arg) c.5133T>A (p.Ser1711Arg) n.5502T>A | ClinVar dbSNP |
| 13 | g.32339857T>C | CA483438505 | BRCA2 | c.5502T>C (p.Ser1834=) c.5133T>C (p.Ser1711=) n.5502T>C | |
| 13 | g.32339857T>G | CA387785804 | BRCA2 | c.5502T>G (p.Ser1834Arg) c.5133T>G (p.Ser1711Arg) n.5502T>G | |
| 13 | g.32339857T= | CA2082824005 | BRCA2 | c.5502T= (p.Ser1834=) c.5133T= (p.Ser1711=) n.5502T= | |
| 13 | g.32339861_32339863del | CA2082823989 | BRCA2 | c.5506_5508del (p.Asn1836del) c.5137_5139del (p.Asn1713del) n.5506_5508del | ClinVar dbSNP |
| 13 | g.32339858A= | CA2082824011 | BRCA2 | c.5503A= (p.Asn1835=) c.5134A= (p.Asn1712=) n.5503A= | |
| 13 | g.32339858A>C | CA387785806 | BRCA2 | c.5503A>C (p.Asn1835His) c.5134A>C (p.Asn1712His) n.5503A>C | |
| 13 | g.32339858A>G | CA022464 | BRCA2 | c.5503A>G (p.Asn1835Asp) c.5134A>G (p.Asn1712Asp) n.5503A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339858A>T | CA387785808 | BRCA2 | c.5503A>T (p.Asn1835Tyr) c.5134A>T (p.Asn1712Tyr) n.5503A>T | dbSNP |
| 13 | g.32339859dup | CA1139771860 | BRCA2 | c.5504dup (p.Asn1835LysfsTer2) c.5135dup (p.Asn1712LysfsTer2) n.5504dup | |
| 13 | g.32339859del | CA2727914592 | BRCA2 | c.5504del (p.Asn1835IlefsTer5) c.5135del (p.Asn1712IlefsTer5) n.5504del | dbSNP |
| 13 | g.32339859A= | CA2082824034 | BRCA2 | c.5504A= (p.Asn1835=) c.5135A= (p.Asn1712=) n.5504A= | |
| 13 | g.32339859A>C | CA387785809 | BRCA2 | c.5504A>C (p.Asn1835Thr) c.5135A>C (p.Asn1712Thr) n.5504A>C | dbSNP |
| 13 | g.32339859A>G | CA387785811 | BRCA2 | c.5504A>G (p.Asn1835Ser) c.5135A>G (p.Asn1712Ser) n.5504A>G | ClinVar dbSNP |
| 13 | g.32339859A>T | CA387785813 | BRCA2 | c.5504A>T (p.Asn1835Ile) c.5135A>T (p.Asn1712Ile) n.5504A>T | dbSNP |
| 13 | g.32339860T>A | CA387785815 | BRCA2 | c.5505T>A (p.Asn1835Lys) c.5136T>A (p.Asn1712Lys) n.5505T>A | |
| 13 | g.32339860T>C | CA483438511 | BRCA2 | c.5505T>C (p.Asn1835=) c.5136T>C (p.Asn1712=) n.5505T>C | ClinVar |
| 13 | g.32339860T>G | CA022469 | BRCA2 | c.5505T>G (p.Asn1835Lys) c.5136T>G (p.Asn1712Lys) n.5505T>G | ClinVar dbSNP |
| 13 | g.32339860T= | CA2082824045 | BRCA2 | c.5505T= (p.Asn1835=) c.5136T= (p.Asn1712=) n.5505T= | |
| 13 | g.32339861A>C | CA387785817 | BRCA2 | c.5506A>C (p.Asn1836His) c.5137A>C (p.Asn1713His) n.5506A>C | ClinVar dbSNP |
| 13 | g.32339861A>G | CA387785821 | BRCA2 | c.5506A>G (p.Asn1836Asp) c.5137A>G (p.Asn1713Asp) n.5506A>G | ClinVar |
| 13 | g.32339861A>T | CA387785819 | BRCA2 | c.5506A>T (p.Asn1836Tyr) c.5137A>T (p.Asn1713Tyr) n.5506A>T | dbSNP |
| 13 | g.32339862A= | CA2082824074 | BRCA2 | c.5507A= (p.Asn1836=) c.5138A= (p.Asn1713=) n.5507A= | |
| 13 | g.32339862A>C | CA022478 | BRCA2 | c.5507A>C (p.Asn1836Thr) c.5138A>C (p.Asn1713Thr) n.5507A>C | ClinVar dbSNP |
| 13 | g.32339862A>G | CA387785824 | BRCA2 | c.5507A>G (p.Asn1836Ser) c.5138A>G (p.Asn1713Ser) n.5507A>G | ClinVar dbSNP |
| 13 | g.32339862A>T | CA387785826 | BRCA2 | c.5507A>T (p.Asn1836Ile) c.5138A>T (p.Asn1713Ile) n.5507A>T | |
| 13 | g.32339863T>A | CA387785828 | BRCA2 | c.5508T>A (p.Asn1836Lys) c.5139T>A (p.Asn1713Lys) n.5508T>A | dbSNP |
| 13 | g.32339863T>C | CA483438513 | BRCA2 | c.5508T>C (p.Asn1836=) c.5139T>C (p.Asn1713=) n.5508T>C | ClinVar dbSNP |
| 13 | g.32339863T>G | CA022483 | BRCA2 | c.5508T>G (p.Asn1836Lys) c.5139T>G (p.Asn1713Lys) n.5508T>G | ClinVar dbSNP |
| 13 | g.32339863T= | CA2082824089 | BRCA2 | c.5508T= (p.Asn1836=) c.5139T= (p.Asn1713=) n.5508T= | |
| 13 | g.32339866dup | CA2573053813 | BRCA2 | c.5511dup (p.Glu1838Ter) c.5142dup (p.Glu1715Ter) n.5511dup | ClinVar dbSNP |
| 13 | g.32339866del | CA2695217894 | BRCA2 | c.5511del (p.Phe1837LeufsTer3) c.5142del (p.Phe1714LeufsTer3) n.5511del | dbSNP |
| 13 | g.32339864T>A | CA387785830 | BRCA2 | c.5509T>A (p.Phe1837Ile) c.5140T>A (p.Phe1714Ile) n.5509T>A | dbSNP |
| 13 | g.32339864T>C | CA387785832 | BRCA2 | c.5509T>C (p.Phe1837Leu) c.5140T>C (p.Phe1714Leu) n.5509T>C | ClinVar dbSNP |
| 13 | g.32339864T>G | CA387785835 | BRCA2 | c.5509T>G (p.Phe1837Val) c.5140T>G (p.Phe1714Val) n.5509T>G | |
| 13 | g.32339865T>A | CA387785836 | BRCA2 | c.5510T>A (p.Phe1837Tyr) c.5141T>A (p.Phe1714Tyr) n.5510T>A | dbSNP |
| 13 | g.32339865T>C | CA387785837 | BRCA2 | c.5510T>C (p.Phe1837Ser) c.5141T>C (p.Phe1714Ser) n.5510T>C | dbSNP |
| 13 | g.32339865T>G | CA387785838 | BRCA2 | c.5510T>G (p.Phe1837Cys) c.5141T>G (p.Phe1714Cys) n.5510T>G | |
| 13 | g.32339866T>A | CA387785839 | BRCA2 | c.5511T>A (p.Phe1837Leu) c.5142T>A (p.Phe1714Leu) n.5511T>A | dbSNP |
| 13 | g.32339866T>C | CA483438514 | BRCA2 | c.5511T>C (p.Phe1837=) c.5142T>C (p.Phe1714=) n.5511T>C | ClinVar dbSNP |
| 13 | g.32339866T>G | CA387785840 | BRCA2 | c.5511T>G (p.Phe1837Leu) c.5142T>G (p.Phe1714Leu) n.5511T>G | |
| 13 | g.32339867G>A | CA387785841 | BRCA2 | c.5512G>A (p.Glu1838Lys) c.5143G>A (p.Glu1715Lys) n.5512G>A | dbSNP |
| 13 | g.32339867G>C | CA387785845 | BRCA2 | c.5512G>C (p.Glu1838Gln) c.5143G>C (p.Glu1715Gln) n.5512G>C | dbSNP |
| 13 | g.32339867G= | CA2082824099 | BRCA2 | c.5512G= (p.Glu1838=) c.5143G= (p.Glu1715=) n.5512G= | |
| 13 | g.32339867G>T | CA387785843 | BRCA2 | c.5512G>T (p.Glu1838Ter) c.5143G>T (p.Glu1715Ter) n.5512G>T | ClinVar dbSNP |
| 13 | g.32339868del | CA2825002160 | BRCA2 | c.5513del (p.Glu1838GlyfsTer2) c.5144del (p.Glu1715GlyfsTer2) n.5513del | ClinVar |
| 13 | g.32339868A>C | CA387785846 | BRCA2 | c.5513A>C (p.Glu1838Ala) c.5144A>C (p.Glu1715Ala) n.5513A>C | |
| 13 | g.32339868A>G | CA387785848 | BRCA2 | c.5513A>G (p.Glu1838Gly) c.5144A>G (p.Glu1715Gly) n.5513A>G | dbSNP |
| 13 | g.32339868A>T | CA387785850 | BRCA2 | c.5513A>T (p.Glu1838Val) c.5144A>T (p.Glu1715Val) n.5513A>T | dbSNP |
| 13 | g.32339869G>A | CA483438515 | BRCA2 | c.5514G>A (p.Glu1838=) c.5145G>A (p.Glu1715=) n.5514G>A | ClinVar dbSNP |
| 13 | g.32339869G>C | CA387785852 | BRCA2 | c.5514G>C (p.Glu1838Asp) c.5145G>C (p.Glu1715Asp) n.5514G>C | dbSNP |
| 13 | g.32339869G= | CA2082824111 | BRCA2 | c.5514G= (p.Glu1838=) c.5145G= (p.Glu1715=) n.5514G= | |
| 13 | g.32339869G>T | CA387785853 | BRCA2 | c.5514G>T (p.Glu1838Asp) c.5145G>T (p.Glu1715Asp) n.5514G>T | ClinVar dbSNP |
| 13 | g.32339870G>A | CA6940881 | BRCA2 | c.5515G>A (p.Val1839Ile) c.5146G>A (p.Val1716Ile) n.5515G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32339870G>C | CA387785856 | BRCA2 | c.5515G>C (p.Val1839Leu) c.5146G>C (p.Val1716Leu) n.5515G>C | dbSNP |
| 13 | g.32339870G= | CA2082824121 | BRCA2 | c.5515G= (p.Val1839=) c.5146G= (p.Val1716=) n.5515G= | |
| 13 | g.32339870G>T | CA387785858 | BRCA2 | c.5515G>T (p.Val1839Leu) c.5146G>T (p.Val1716Leu) n.5515G>T | dbSNP |
| 13 | g.32339871T>A | CA387785860 | BRCA2 | c.5516T>A (p.Val1839Glu) c.5147T>A (p.Val1716Glu) n.5516T>A | |
| 13 | g.32339871T>C | CA387785862 | BRCA2 | c.5516T>C (p.Val1839Ala) c.5147T>C (p.Val1716Ala) n.5516T>C | dbSNP |
| 13 | g.32339871T>G | CA387785863 | BRCA2 | c.5516T>G (p.Val1839Gly) c.5147T>G (p.Val1716Gly) n.5516T>G | dbSNP |
| 13 | g.32339872A>C | CA483438516 | BRCA2 | c.5517A>C (p.Val1839=) c.5148A>C (p.Val1716=) n.5517A>C | |
| 13 | g.32339872A>G | CA483438517 | BRCA2 | c.5517A>G (p.Val1839=) c.5148A>G (p.Val1716=) n.5517A>G | dbSNP gnomAD v4 |
| 13 | g.32339872A>T | CA483438518 | BRCA2 | c.5517A>T (p.Val1839=) c.5148A>T (p.Val1716=) n.5517A>T | dbSNP |
| 13 | g.32339873G>A | CA387785870 | BRCA2 | c.5518G>A (p.Gly1840Arg) c.5149G>A (p.Gly1717Arg) n.5518G>A | ClinVar dbSNP |
| 13 | g.32339873G>C | CA022489 | BRCA2 | c.5518G>C (p.Gly1840Arg) c.5149G>C (p.Gly1717Arg) n.5518G>C | ClinVar dbSNP |
| 13 | g.32339873G= | CA2082824132 | BRCA2 | c.5518G= (p.Gly1840=) c.5149G= (p.Gly1717=) n.5518G= | |
| 13 | g.32339873G>T | CA387785867 | BRCA2 | c.5518G>T (p.Gly1840Trp) c.5149G>T (p.Gly1717Trp) n.5518G>T | dbSNP |
| 13 | g.32339874G>A | CA387785872 | BRCA2 | c.5519G>A (p.Gly1840Glu) c.5150G>A (p.Gly1717Glu) n.5519G>A | ClinVar dbSNP |
| 13 | g.32339874G>C | CA387785873 | BRCA2 | c.5519G>C (p.Gly1840Ala) c.5150G>C (p.Gly1717Ala) n.5519G>C | dbSNP |
| 13 | g.32339874G>T | CA387785875 | BRCA2 | c.5519G>T (p.Gly1840Val) c.5150G>T (p.Gly1717Val) n.5519G>T | dbSNP COSMIC COSMIC |
| 13 | g.32339875G>A | CA483438519 | BRCA2 | c.5520G>A (p.Gly1840=) c.5151G>A (p.Gly1717=) n.5520G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339875G>C | CA483438520 | BRCA2 | c.5520G>C (p.Gly1840=) c.5151G>C (p.Gly1717=) n.5520G>C | ClinVar dbSNP |
| 13 | g.32339875G>T | CA483438521 | BRCA2 | c.5520G>T (p.Gly1840=) c.5151G>T (p.Gly1717=) n.5520G>T | dbSNP |
| 13 | g.32339876C>A | CA387785877 | BRCA2 | c.5521C>A (p.Pro1841Thr) c.5152C>A (p.Pro1718Thr) n.5521C>A | dbSNP |
| 13 | g.32339876C>G | CA387785879 | BRCA2 | c.5521C>G (p.Pro1841Ala) c.5152C>G (p.Pro1718Ala) n.5521C>G | dbSNP |
| 13 | g.32339876C>T | CA387785881 | BRCA2 | c.5521C>T (p.Pro1841Ser) c.5152C>T (p.Pro1718Ser) n.5521C>T | dbSNP |