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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.32340101_32340110delinsCATTCACATA | CA2082827103 | BRCA2 | c.5746_5755delinsCATTCACATA (p.His1916=) c.5377_5386delinsCATTCACATA (p.His1793=) n.5746_5755delinsCATTCACATA | |
| 13 | g.32340103_32340111del | CA609453788 | BRCA2 | c.5748_5756del (p.His1916_Lys1919delinsGln) c.5379_5387del (p.His1793_Lys1796delinsGln) n.5748_5756del | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340107C>A | CA387787020 | BRCA2 | c.5752C>A (p.His1918Asn) c.5383C>A (p.His1795Asn) n.5752C>A | dbSNP |
| 13 | g.32340107C= | CA2082827164 | BRCA2 | c.5752C= (p.His1918=) c.5383C= (p.His1795=) n.5752C= | |
| 13 | g.32340107C>G | CA387787022 | BRCA2 | c.5752C>G (p.His1918Asp) c.5383C>G (p.His1795Asp) n.5752C>G | dbSNP |
| 13 | g.32340107C>T | CA023153 | BRCA2 | c.5752C>T (p.His1918Tyr) c.5383C>T (p.His1795Tyr) n.5752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340107_32340109delinsCAT | CA2082827165 | BRCA2 | c.5752_5754delinsCAT (p.His1918=) c.5383_5385delinsCAT (p.His1795=) n.5752_5754delinsCAT | |
| 13 | g.32340108del | CA2499222211 | BRCA2 | c.5753del (p.His1918LeufsTer?) c.5384del (p.His1795LeufsTer?) n.5753del | |
| 13 | g.32340108A= | CA2082827188 | BRCA2 | c.5753A= (p.His1918=) c.5384A= (p.His1795=) n.5753A= | |
| 13 | g.32340108A>C | CA387787028 | BRCA2 | c.5753A>C (p.His1918Pro) c.5384A>C (p.His1795Pro) n.5753A>C | gnomAD v4 |
| 13 | g.32340108A>G | CA023157 | BRCA2 | c.5753A>G (p.His1918Arg) c.5384A>G (p.His1795Arg) n.5753A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340108A>T | CA387787030 | BRCA2 | c.5753A>T (p.His1918Leu) c.5384A>T (p.His1795Leu) n.5753A>T | ClinVar dbSNP |
| 13 | g.32340109_32340110del | CA023161 | BRCA2 | c.5754_5755del (p.His1918GlnfsTer5) c.5385_5386del (p.His1795GlnfsTer5) n.5754_5755del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340109T>A | CA387787033 | BRCA2 | c.5754T>A (p.His1918Gln) c.5385T>A (p.His1795Gln) n.5754T>A | dbSNP |
| 13 | g.32340109T>C | CA483438902 | BRCA2 | c.5754T>C (p.His1918=) c.5385T>C (p.His1795=) n.5754T>C | |
| 13 | g.32340109T>G | CA387787035 | BRCA2 | c.5754T>G (p.His1918Gln) c.5385T>G (p.His1795Gln) n.5754T>G | |
| 13 | g.32340109dup | CA2499222212 | BRCA2 | c.5754dup (p.Lys1919Ter) c.5385dup (p.Lys1796Ter) n.5754dup | ClinVar |
| 13 | g.32340110A= | CA2082827198 | BRCA2 | c.5755A= (p.Lys1919=) c.5386A= (p.Lys1796=) n.5755A= | |
| 13 | g.32340110A>C | CA387787040 | BRCA2 | c.5755A>C (p.Lys1919Gln) c.5386A>C (p.Lys1796Gln) n.5755A>C | |
| 13 | g.32340110A>G | CA387787041 | BRCA2 | c.5755A>G (p.Lys1919Glu) c.5386A>G (p.Lys1796Glu) n.5755A>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340110A>T | CA387787044 | BRCA2 | c.5755A>T (p.Lys1919Ter) c.5386A>T (p.Lys1796Ter) n.5755A>T | dbSNP |
| 13 | g.32340111del | CA2580087778 | BRCA2 | c.5756del (p.Lys1919ArgfsTer?) c.5387del (p.Lys1796ArgfsTer?) n.5756del | ClinVar |
| 13 | g.32340111A= | CA2082827204 | BRCA2 | c.5756A= (p.Lys1919=) c.5387A= (p.Lys1796=) n.5756A= | |
| 13 | g.32340111A>C | CA387787046 | BRCA2 | c.5756A>C (p.Lys1919Thr) c.5387A>C (p.Lys1796Thr) n.5756A>C | |
| 13 | g.32340111A>G | CA387787048 | BRCA2 | c.5756A>G (p.Lys1919Arg) c.5387A>G (p.Lys1796Arg) n.5756A>G | ClinVar dbSNP |
| 13 | g.32340111A>T | CA387787049 | BRCA2 | c.5756A>T (p.Lys1919Met) c.5387A>T (p.Lys1796Met) n.5756A>T | dbSNP |
| 13 | g.32340112G>A | CA483438903 | BRCA2 | c.5757G>A (p.Lys1919=) c.5388G>A (p.Lys1796=) n.5757G>A | dbSNP |
| 13 | g.32340112G>C | CA387787051 | BRCA2 | c.5757G>C (p.Lys1919Asn) c.5388G>C (p.Lys1796Asn) n.5757G>C | ClinVar dbSNP |
| 13 | g.32340112G= | CA2082827213 | BRCA2 | c.5757G= (p.Lys1919=) c.5388G= (p.Lys1796=) n.5757G= | |
| 13 | g.32340112G>T | CA387787052 | BRCA2 | c.5757G>T (p.Lys1919Asn) c.5388G>T (p.Lys1796Asn) n.5757G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340113G>A | CA387787054 | BRCA2 | c.5758G>A (p.Val1920Ile) c.5389G>A (p.Val1797Ile) n.5758G>A | ClinVar |
| 13 | g.32340113G>C | CA387787056 | BRCA2 | c.5758G>C (p.Val1920Leu) c.5389G>C (p.Val1797Leu) n.5758G>C | |
| 13 | g.32340113G>T | CA387787057 | BRCA2 | c.5758G>T (p.Val1920Phe) c.5389G>T (p.Val1797Phe) n.5758G>T | |
| 13 | g.32340113_32340114delinsGT | CA2082827221 | BRCA2 | c.5758_5759delinsGT (p.Val1920=) c.5389_5390delinsGT (p.Val1797=) n.5758_5759delinsGT | |
| 13 | g.32340113_32340118delinsGTTTTT | CA2082827225 | BRCA2 | c.5758_5763delinsGTTTTT (p.Val1920=) c.5389_5394delinsGTTTTT (p.Val1797=) n.5758_5763delinsGTTTTT | |
| 13 | g.32340114T>A | CA387787059 | BRCA2 | c.5759T>A (p.Val1920Asp) c.5390T>A (p.Val1797Asp) n.5759T>A | dbSNP |
| 13 | g.32340114T>C | CA387787062 | BRCA2 | c.5759T>C (p.Val1920Ala) c.5390T>C (p.Val1797Ala) n.5759T>C | ClinVar |
| 13 | g.32340114T>G | CA387787063 | BRCA2 | c.5759T>G (p.Val1920Gly) c.5390T>G (p.Val1797Gly) n.5759T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340114_32340118del | CA609453789 | BRCA2 | c.5759_5763del (p.Val1920GlyfsTer2) c.5390_5394del (p.Val1797GlyfsTer2) n.5759_5763del | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340118dup | CA023171 | BRCA2 | c.5763dup (p.Ala1922CysfsTer2) c.5394dup (p.Ala1799CysfsTer2) n.5763dup | ClinVar dbSNP |
| 13 | g.32340118del | CA023173 | BRCA2 | c.5763del (p.Phe1921LeufsTer?) c.5394del (p.Phe1798LeufsTer?) n.5763del | ClinVar dbSNP |
| 13 | g.32340114_32340125delinsTTTTTGCTGACA | CA2082827240 | BRCA2 | c.5759_5770delinsTTTTTGCTGACA (p.Val1920=) c.5390_5401delinsTTTTTGCTGACA (p.Val1797=) n.5759_5770delinsTTTTTGCTGACA | |
| 13 | g.32340115T>A | CA483438904 | BRCA2 | c.5760T>A (p.Val1920=) c.5391T>A (p.Val1797=) n.5760T>A | ClinVar dbSNP |
| 13 | g.32340115T>C | CA483438905 | BRCA2 | c.5760T>C (p.Val1920=) c.5391T>C (p.Val1797=) n.5760T>C | |
| 13 | g.32340115T>G | CA483438906 | BRCA2 | c.5760T>G (p.Val1920=) c.5391T>G (p.Val1797=) n.5760T>G | |
| 13 | g.32340117_32340127del | CA913190954 | BRCA2 | c.5762_5772del (p.Phe1921SerfsTer3) c.5393_5403del (p.Phe1798SerfsTer3) n.5762_5772del | ClinVar dbSNP |
| 13 | g.32340116T>A | CA387787065 | BRCA2 | c.5761T>A (p.Phe1921Ile) c.5392T>A (p.Phe1798Ile) n.5761T>A | dbSNP |
| 13 | g.32340116T>C | CA387787067 | BRCA2 | c.5761T>C (p.Phe1921Leu) c.5392T>C (p.Phe1798Leu) n.5761T>C | |
| 13 | g.32340116T>G | CA387787071 | BRCA2 | c.5761T>G (p.Phe1921Val) c.5392T>G (p.Phe1798Val) n.5761T>G | |
| 13 | g.32340117T>A | CA387787073 | BRCA2 | c.5762T>A (p.Phe1921Tyr) c.5393T>A (p.Phe1798Tyr) n.5762T>A | dbSNP |
| 13 | g.32340117T>C | CA387787074 | BRCA2 | c.5762T>C (p.Phe1921Ser) c.5393T>C (p.Phe1798Ser) n.5762T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340117T>G | CA387787076 | BRCA2 | c.5762T>G (p.Phe1921Cys) c.5393T>G (p.Phe1798Cys) n.5762T>G | dbSNP |
| 13 | g.32340118T>A | CA387787077 | BRCA2 | c.5763T>A (p.Phe1921Leu) c.5394T>A (p.Phe1798Leu) n.5763T>A | |
| 13 | g.32340118T>C | CA483438907 | BRCA2 | c.5763T>C (p.Phe1921=) c.5394T>C (p.Phe1798=) n.5763T>C | |
| 13 | g.32340118T>G | CA023179 | BRCA2 | c.5763T>G (p.Phe1921Leu) c.5394T>G (p.Phe1798Leu) n.5763T>G | ClinVar dbSNP |
| 13 | g.32340118T= | CA2082827247 | BRCA2 | c.5763T= (p.Phe1921=) c.5394T= (p.Phe1798=) n.5763T= | |
| 13 | g.32340119del | CA2582341815 | BRCA2 | c.5764del (p.Ala1922LeufsTer?) c.5395del (p.Ala1799LeufsTer?) n.5764del | ClinVar |
| 13 | g.32340119G>A | CA387787080 | BRCA2 | c.5764G>A (p.Ala1922Thr) c.5395G>A (p.Ala1799Thr) n.5764G>A | dbSNP |
| 13 | g.32340119G>C | CA023183 | BRCA2 | c.5764G>C (p.Ala1922Pro) c.5395G>C (p.Ala1799Pro) n.5764G>C | ClinVar dbSNP |
| 13 | g.32340119G= | CA2082827264 | BRCA2 | c.5764G= (p.Ala1922=) c.5395G= (p.Ala1799=) n.5764G= | |
| 13 | g.32340119G>T | CA16614327 | BRCA2 | c.5764G>T (p.Ala1922Ser) c.5395G>T (p.Ala1799Ser) n.5764G>T | ClinVar dbSNP |
| 13 | g.32340119_32340120delinsGC | CA2082827259 | BRCA2 | c.5764_5765delinsGC (p.Ala1922=) c.5395_5396delinsGC (p.Ala1799=) n.5764_5765delinsGC | |
| 13 | g.32340120del | CA609453790 | BRCA2 | c.5765del (p.Ala1922ValfsTer?) c.5396del (p.Ala1799ValfsTer?) n.5765del | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340120C>A | CA387787085 | BRCA2 | c.5765C>A (p.Ala1922Asp) c.5396C>A (p.Ala1799Asp) n.5765C>A | dbSNP |
| 13 | g.32340120C>G | CA387787083 | BRCA2 | c.5765C>G (p.Ala1922Gly) c.5396C>G (p.Ala1799Gly) n.5765C>G | dbSNP |
| 13 | g.32340120C>T | CA387787084 | BRCA2 | c.5765C>T (p.Ala1922Val) c.5396C>T (p.Ala1799Val) n.5765C>T | dbSNP |
| 13 | g.32340121T>A | CA483438908 | BRCA2 | c.5766T>A (p.Ala1922=) c.5397T>A (p.Ala1799=) n.5766T>A | dbSNP |
| 13 | g.32340121T>C | CA023187 | BRCA2 | c.5766T>C (p.Ala1922=) c.5397T>C (p.Ala1799=) n.5766T>C | ClinVar dbSNP |
| 13 | g.32340121T>G | CA483438909 | BRCA2 | c.5766T>G (p.Ala1922=) c.5397T>G (p.Ala1799=) n.5766T>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340121T= | CA2082827273 | BRCA2 | c.5766T= (p.Ala1922=) c.5397T= (p.Ala1799=) n.5766T= | |
| 13 | g.32340122G>A | CA387787087 | BRCA2 | c.5767G>A (p.Asp1923Asn) c.5398G>A (p.Asp1800Asn) n.5767G>A | ClinVar dbSNP |
| 13 | g.32340122G>C | CA387787089 | BRCA2 | c.5767G>C (p.Asp1923His) c.5398G>C (p.Asp1800His) n.5767G>C | dbSNP |
| 13 | g.32340122G>T | CA387787090 | BRCA2 | c.5767G>T (p.Asp1923Tyr) c.5398G>T (p.Asp1800Tyr) n.5767G>T | dbSNP gnomAD v4 |
| 13 | g.32340123A= | CA2082827288 | BRCA2 | c.5768A= (p.Asp1923=) c.5399A= (p.Asp1800=) n.5768A= | |
| 13 | g.32340123A>C | CA023191 | BRCA2 | c.5768A>C (p.Asp1923Ala) c.5399A>C (p.Asp1800Ala) n.5768A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340123A>G | CA387787092 | BRCA2 | c.5768A>G (p.Asp1923Gly) c.5399A>G (p.Asp1800Gly) n.5768A>G | dbSNP |
| 13 | g.32340123A>T | CA023194 | BRCA2 | c.5768A>T (p.Asp1923Val) c.5399A>T (p.Asp1800Val) n.5768A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32340123_32340127delinsACATT | CA2082827294 | BRCA2 | c.5768_5772delinsACATT (p.Asp1923=) c.5399_5403delinsACATT (p.Asp1800=) n.5768_5772delinsACATT | |
| 13 | g.32340124C>A | CA387787095 | BRCA2 | c.5769C>A (p.Asp1923Glu) c.5400C>A (p.Asp1800Glu) n.5769C>A | ClinVar dbSNP |
| 13 | g.32340124C= | CA2082827308 | BRCA2 | c.5769C= (p.Asp1923=) c.5400C= (p.Asp1800=) n.5769C= | |
| 13 | g.32340124C>G | CA387787097 | BRCA2 | c.5769C>G (p.Asp1923Glu) c.5400C>G (p.Asp1800Glu) n.5769C>G | dbSNP |
| 13 | g.32340124C>T | CA338588 | BRCA2 | c.5769C>T (p.Asp1923=) c.5400C>T (p.Asp1800=) n.5769C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340126_32340129del | CA023197 | BRCA2 | c.5771_5774del (p.Ile1924ArgfsTer?) c.5402_5405del (p.Ile1801ArgfsTer?) n.5771_5774del | ClinVar dbSNP |
| 13 | g.32340125A= | CA2082827319 | BRCA2 | c.5770A= (p.Ile1924=) c.5401A= (p.Ile1801=) n.5770A= | |
| 13 | g.32340125A>C | CA387787103 | BRCA2 | c.5770A>C (p.Ile1924Leu) c.5401A>C (p.Ile1801Leu) n.5770A>C | dbSNP |
| 13 | g.32340125A>G | CA6940901 | BRCA2 | c.5770A>G (p.Ile1924Val) c.5401A>G (p.Ile1801Val) n.5770A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340125A>T | CA387787102 | BRCA2 | c.5770A>T (p.Ile1924Phe) c.5401A>T (p.Ile1801Phe) n.5770A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340126T>A | CA387787105 | BRCA2 | c.5771T>A (p.Ile1924Asn) c.5402T>A (p.Ile1801Asn) n.5771T>A | dbSNP |
| 13 | g.32340126T>C | CA387787107 | BRCA2 | c.5771T>C (p.Ile1924Thr) c.5402T>C (p.Ile1801Thr) n.5771T>C | dbSNP |
| 13 | g.32340126T>G | CA387787108 | BRCA2 | c.5771T>G (p.Ile1924Ser) c.5402T>G (p.Ile1801Ser) n.5771T>G | |
| 13 | g.32340127T>A | CA483438910 | BRCA2 | c.5772T>A (p.Ile1924=) c.5403T>A (p.Ile1801=) n.5772T>A | dbSNP |
| 13 | g.32340127T>C | CA483438911 | BRCA2 | c.5772T>C (p.Ile1924=) c.5403T>C (p.Ile1801=) n.5772T>C | dbSNP |
| 13 | g.32340127T>G | CA387787110 | BRCA2 | c.5772T>G (p.Ile1924Met) c.5403T>G (p.Ile1801Met) n.5772T>G | dbSNP |
| 13 | g.32340127_32340129delinsTCA | CA2082827329 | BRCA2 | c.5772_5774delinsTCA (p.Ile1924=) c.5403_5405delinsTCA (p.Ile1801=) n.5772_5774delinsTCA | |
| 13 | g.32340128del | CA2695217901 | BRCA2 | c.5773del (p.Gln1925ArgfsTer?) c.5404del (p.Gln1802ArgfsTer?) n.5773del | |
| 13 | g.32340128C>A | CA387787112 | BRCA2 | c.5773C>A (p.Gln1925Lys) c.5404C>A (p.Gln1802Lys) n.5773C>A | ClinVar dbSNP |
| 13 | g.32340128C= | CA2082827375 | BRCA2 | c.5773C= (p.Gln1925=) c.5404C= (p.Gln1802=) n.5773C= | |
| 13 | g.32340128C>G | CA023201 | BRCA2 | c.5773C>G (p.Gln1925Glu) c.5404C>G (p.Gln1802Glu) n.5773C>G | ClinVar dbSNP |
| 13 | g.32340128C>T | CA023205 | BRCA2 | c.5773C>T (p.Gln1925Ter) c.5404C>T (p.Gln1802Ter) n.5773C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340128_32340129del | CA1139663225 | BRCA2 | c.5773_5774del (p.Gln1925GlufsTer2) c.5404_5405del (p.Gln1802GlufsTer2) n.5773_5774del | ClinVar dbSNP |
| 13 | g.32340128_32340132delinsCAGAG | CA2082827386 | BRCA2 | c.5773_5777delinsCAGAG (p.Gln1925=) c.5404_5408delinsCAGAG (p.Gln1802=) n.5773_5777delinsCAGAG | |
| 13 | g.32340129A>C | CA387787114 | BRCA2 | c.5774A>C (p.Gln1925Pro) c.5405A>C (p.Gln1802Pro) n.5774A>C | |
| 13 | g.32340129A>G | CA387787116 | BRCA2 | c.5774A>G (p.Gln1925Arg) c.5405A>G (p.Gln1802Arg) n.5774A>G | ClinVar dbSNP |
| 13 | g.32340129A>T | CA387787118 | BRCA2 | c.5774A>T (p.Gln1925Leu) c.5405A>T (p.Gln1802Leu) n.5774A>T | dbSNP |
| 13 | g.32340129dup | CA2580087779 | BRCA2 | c.5774dup (p.Ser1926GlufsTer2) c.5405dup (p.Ser1803GlufsTer2) n.5774dup | ClinVar |
| 13 | g.32340129_32340132del | CA023208 | BRCA2 | c.5774_5777del (p.Gln1925LeufsTer?) c.5405_5408del (p.Gln1802LeufsTer?) n.5774_5777del | ClinVar dbSNP |
| 13 | g.32340130G>A | CA483438912 | BRCA2 | c.5775G>A (p.Gln1925=) c.5406G>A (p.Gln1802=) n.5775G>A | ClinVar dbSNP |
| 13 | g.32340130G>C | CA387787120 | BRCA2 | c.5775G>C (p.Gln1925His) c.5406G>C (p.Gln1802His) n.5775G>C | ClinVar dbSNP |
| 13 | g.32340130G= | CA2082827414 | BRCA2 | c.5775G= (p.Gln1925=) c.5406G= (p.Gln1802=) n.5775G= | |
| 13 | g.32340130G>T | CA387787121 | BRCA2 | c.5775G>T (p.Gln1925His) c.5406G>T (p.Gln1802His) n.5775G>T | dbSNP |
| 13 | g.32340131A>C | CA387787123 | BRCA2 | c.5776A>C (p.Ser1926Arg) c.5407A>C (p.Ser1803Arg) n.5776A>C | |
| 13 | g.32340131A>G | CA387787125 | BRCA2 | c.5776A>G (p.Ser1926Gly) c.5407A>G (p.Ser1803Gly) n.5776A>G | |
| 13 | g.32340131A>T | CA387787126 | BRCA2 | c.5776A>T (p.Ser1926Cys) c.5407A>T (p.Ser1803Cys) n.5776A>T | |
| 13 | g.32340131_32340133delinsAGT | CA2082827419 | BRCA2 | c.5776_5778delinsAGT (p.Ser1926=) c.5407_5409delinsAGT (p.Ser1803=) n.5776_5778delinsAGT | |
| 13 | g.32340132G>A | CA10576069 | BRCA2 | c.5777G>A (p.Ser1926Asn) c.5408G>A (p.Ser1803Asn) n.5777G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340132G>C | CA387787127 | BRCA2 | c.5777G>C (p.Ser1926Thr) c.5408G>C (p.Ser1803Thr) n.5777G>C | dbSNP |
| 13 | g.32340132G= | CA2082827426 | BRCA2 | c.5777G= (p.Ser1926=) c.5408G= (p.Ser1803=) n.5777G= | |
| 13 | g.32340132G>T | CA387787129 | BRCA2 | c.5777G>T (p.Ser1926Ile) c.5408G>T (p.Ser1803Ile) n.5777G>T | ClinVar dbSNP |
| 13 | g.32340132_32340133delinsGT | CA2082827427 | BRCA2 | c.5777_5778delinsGT (p.Ser1926=) c.5408_5409delinsGT (p.Ser1803=) n.5777_5778delinsGT | |
| 13 | g.32340133_32340134del | CA023212 | BRCA2 | c.5778_5779del (p.Ser1926ArgfsTer7) c.5409_5410del (p.Ser1803ArgfsTer7) n.5778_5779del | ClinVar dbSNP |
| 13 | g.32340133del | CA10586543 | BRCA2 | c.5778del (p.Ser1926ArgfsTer?) c.5409del (p.Ser1803ArgfsTer?) n.5778del | ClinVar dbSNP |
| 13 | g.32340133T>A | CA023215 | BRCA2 | c.5778T>A (p.Ser1926Arg) c.5409T>A (p.Ser1803Arg) n.5778T>A | ClinVar dbSNP |
| 13 | g.32340133T>C | CA6940902 | BRCA2 | c.5778T>C (p.Ser1926=) c.5409T>C (p.Ser1803=) n.5778T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340133T>G | CA387787132 | BRCA2 | c.5778T>G (p.Ser1926Arg) c.5409T>G (p.Ser1803Arg) n.5778T>G | dbSNP |
| 13 | g.32340133T= | CA2082827437 | BRCA2 | c.5778T= (p.Ser1926=) c.5409T= (p.Ser1803=) n.5778T= | |
| 13 | g.32340134G>A | CA387787134 | BRCA2 | c.5779G>A (p.Glu1927Lys) c.5410G>A (p.Glu1804Lys) n.5779G>A | ClinVar dbSNP |
| 13 | g.32340134G>C | CA387787136 | BRCA2 | c.5779G>C (p.Glu1927Gln) c.5410G>C (p.Glu1804Gln) n.5779G>C | |
| 13 | g.32340134G= | CA2082827453 | BRCA2 | c.5779G= (p.Glu1927=) c.5410G= (p.Glu1804=) n.5779G= | |
| 13 | g.32340134G>T | CA10586544 | BRCA2 | c.5779G>T (p.Glu1927Ter) c.5410G>T (p.Glu1804Ter) n.5779G>T | ClinVar dbSNP |
| 13 | g.32340135A>C | CA387787137 | BRCA2 | c.5780A>C (p.Glu1927Ala) c.5411A>C (p.Glu1804Ala) n.5780A>C | |
| 13 | g.32340135A>G | CA387787139 | BRCA2 | c.5780A>G (p.Glu1927Gly) c.5411A>G (p.Glu1804Gly) n.5780A>G | dbSNP gnomAD v4 |
| 13 | g.32340135A>T | CA387787140 | BRCA2 | c.5780A>T (p.Glu1927Val) c.5411A>T (p.Glu1804Val) n.5780A>T | dbSNP |
| 13 | g.32340136A= | CA2082827456 | BRCA2 | c.5781A= (p.Glu1927=) c.5412A= (p.Glu1804=) n.5781A= | |
| 13 | g.32340136A>C | CA6940903 | BRCA2 | c.5781A>C (p.Glu1927Asp) c.5412A>C (p.Glu1804Asp) n.5781A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340136A>G | CA483438913 | BRCA2 | c.5781A>G (p.Glu1927=) c.5412A>G (p.Glu1804=) n.5781A>G | ClinVar dbSNP |
| 13 | g.32340136A>T | CA387787143 | BRCA2 | c.5781A>T (p.Glu1927Asp) c.5412A>T (p.Glu1804Asp) n.5781A>T | dbSNP |
| 13 | g.32340137G>A | CA023218 | BRCA2 | c.5782G>A (p.Glu1928Lys) c.5413G>A (p.Glu1805Lys) n.5782G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340137G>C | CA387787144 | BRCA2 | c.5782G>C (p.Glu1928Gln) c.5413G>C (p.Glu1805Gln) n.5782G>C | ClinVar |
| 13 | g.32340137G= | CA2082827495 | BRCA2 | c.5782G= (p.Glu1928=) c.5413G= (p.Glu1805=) n.5782G= | |
| 13 | g.32340137G>T | CA023221 | BRCA2 | c.5782G>T (p.Glu1928Ter) c.5413G>T (p.Glu1805Ter) n.5782G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340138A>C | CA387787147 | BRCA2 | c.5783A>C (p.Glu1928Ala) c.5414A>C (p.Glu1805Ala) n.5783A>C | |
| 13 | g.32340138A>G | CA387787148 | BRCA2 | c.5783A>G (p.Glu1928Gly) c.5414A>G (p.Glu1805Gly) n.5783A>G | |
| 13 | g.32340138A>T | CA387787149 | BRCA2 | c.5783A>T (p.Glu1928Val) c.5414A>T (p.Glu1805Val) n.5783A>T | dbSNP |
| 13 | g.32340139A= | CA2082827507 | BRCA2 | c.5784A= (p.Glu1928=) c.5415A= (p.Glu1805=) n.5784A= | |
| 13 | g.32340139A>C | CA023225 | BRCA2 | c.5784A>C (p.Glu1928Asp) c.5415A>C (p.Glu1805Asp) n.5784A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340139A>G | CA483438915 | BRCA2 | c.5784A>G (p.Glu1928=) c.5415A>G (p.Glu1805=) n.5784A>G | |
| 13 | g.32340139A>T | CA387787151 | BRCA2 | c.5784A>T (p.Glu1928Asp) c.5415A>T (p.Glu1805Asp) n.5784A>T | dbSNP |
| 13 | g.32340140A= | CA2082827516 | BRCA2 | c.5785A= (p.Ile1929=) c.5416A= (p.Ile1806=) n.5785A= | |
| 13 | g.32340140A>C | CA387787153 | BRCA2 | c.5785A>C (p.Ile1929Leu) c.5416A>C (p.Ile1806Leu) n.5785A>C | |
| 13 | g.32340140A>G | CA023228 | BRCA2 | c.5785A>G (p.Ile1929Val) c.5416A>G (p.Ile1806Val) n.5785A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340140A>T | CA387787155 | BRCA2 | c.5785A>T (p.Ile1929Phe) c.5416A>T (p.Ile1806Phe) n.5785A>T | |
| 13 | g.32340140_32340141delinsAT | CA2082827522 | BRCA2 | c.5785_5786delinsAT (p.Ile1929=) c.5416_5417delinsAT (p.Ile1806=) n.5785_5786delinsAT | |
| 13 | g.32340141T>A | CA387787161 | BRCA2 | c.5786T>A (p.Ile1929Asn) c.5417T>A (p.Ile1806Asn) n.5786T>A | dbSNP |
| 13 | g.32340141T>C | CA387787159 | BRCA2 | c.5786T>C (p.Ile1929Thr) c.5417T>C (p.Ile1806Thr) n.5786T>C | ClinVar dbSNP |
| 13 | g.32340141T>G | CA387787157 | BRCA2 | c.5786T>G (p.Ile1929Ser) c.5417T>G (p.Ile1806Ser) n.5786T>G | |
| 13 | g.32340141T= | CA2082827542 | BRCA2 | c.5786T= (p.Ile1929=) c.5417T= (p.Ile1806=) n.5786T= | |
| 13 | g.32340144del | CA023235 | BRCA2 | c.5789del (p.Leu1930TyrfsTer?) c.5420del (p.Leu1807TyrfsTer?) n.5789del | ClinVar dbSNP |
| 13 | g.32340142T>A | CA483438919 | BRCA2 | c.5787T>A (p.Ile1929=) c.5418T>A (p.Ile1806=) n.5787T>A | ClinVar dbSNP |
| 13 | g.32340142T>C | CA023232 | BRCA2 | c.5787T>C (p.Ile1929=) c.5418T>C (p.Ile1806=) n.5787T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340142T>G | CA247511664 | BRCA2 | c.5787T>G (p.Ile1929Met) c.5418T>G (p.Ile1806Met) n.5787T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340142T= | CA2082827557 | BRCA2 | c.5787T= (p.Ile1929=) c.5418T= (p.Ile1806=) n.5787T= | |
| 13 | g.32340143T>A | CA387787164 | BRCA2 | c.5788T>A (p.Leu1930Ile) c.5419T>A (p.Leu1807Ile) n.5788T>A | dbSNP |
| 13 | g.32340143T>C | CA483438920 | BRCA2 | c.5788T>C (p.Leu1930=) c.5419T>C (p.Leu1807=) n.5788T>C | |
| 13 | g.32340143T>G | CA387787165 | BRCA2 | c.5788T>G (p.Leu1930Val) c.5419T>G (p.Leu1807Val) n.5788T>G | ClinVar dbSNP |
| 13 | g.32340143T= | CA2082827585 | BRCA2 | c.5788T= (p.Leu1930=) c.5419T= (p.Leu1807=) n.5788T= | |
| 13 | g.32340144T>A | CA023238 | BRCA2 | c.5789T>A (p.Leu1930Ter) c.5420T>A (p.Leu1807Ter) n.5789T>A | ClinVar dbSNP |
| 13 | g.32340144T>C | CA387787167 | BRCA2 | c.5789T>C (p.Leu1930Ser) c.5420T>C (p.Leu1807Ser) n.5789T>C | ClinVar dbSNP |
| 13 | g.32340144T>G | CA387787169 | BRCA2 | c.5789T>G (p.Leu1930Ter) c.5420T>G (p.Leu1807Ter) n.5789T>G | ClinVar dbSNP |
| 13 | g.32340144T= | CA2082827598 | BRCA2 | c.5789T= (p.Leu1930=) c.5420T= (p.Leu1807=) n.5789T= | |
| 13 | g.32340145A= | CA2082827615 | BRCA2 | c.5790A= (p.Leu1930=) c.5421A= (p.Leu1807=) n.5790A= | |
| 13 | g.32340145A>C | CA387787170 | BRCA2 | c.5790A>C (p.Leu1930Phe) c.5421A>C (p.Leu1807Phe) n.5790A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340145A>G | CA483438921 | BRCA2 | c.5790A>G (p.Leu1930=) c.5421A>G (p.Leu1807=) n.5790A>G | ClinVar dbSNP |
| 13 | g.32340145A>T | CA387787172 | BRCA2 | c.5790A>T (p.Leu1930Phe) c.5421A>T (p.Leu1807Phe) n.5790A>T | dbSNP |
| 13 | g.32340145dup | CA1139663226 | BRCA2 | c.5790dup (p.Gln1931ThrfsTer3) c.5421dup (p.Gln1808ThrfsTer3) n.5790dup | ClinVar dbSNP |
| 13 | g.32340146C>A | CA387787174 | BRCA2 | c.5791C>A (p.Gln1931Lys) c.5422C>A (p.Gln1808Lys) n.5791C>A | ClinVar dbSNP |
| 13 | g.32340146C= | CA2082827627 | BRCA2 | c.5791C= (p.Gln1931=) c.5422C= (p.Gln1808=) n.5791C= | |
| 13 | g.32340146C>G | CA387787175 | BRCA2 | c.5791C>G (p.Gln1931Glu) c.5422C>G (p.Gln1808Glu) n.5791C>G | ClinVar dbSNP |
| 13 | g.32340146C>T | CA023241 | BRCA2 | c.5791C>T (p.Gln1931Ter) c.5422C>T (p.Gln1808Ter) n.5791C>T | ClinVar dbSNP |
| 13 | g.32340146_32340151delinsCAACAT | CA2082827632 | BRCA2 | c.5791_5796delinsCAACAT (p.Gln1931=) c.5422_5427delinsCAACAT (p.Gln1808=) n.5791_5796delinsCAACAT | |
| 13 | g.32340147A= | CA2082827646 | BRCA2 | c.5792A= (p.Gln1931=) c.5423A= (p.Gln1808=) n.5792A= | |
| 13 | g.32340147A>C | CA387787178 | BRCA2 | c.5792A>C (p.Gln1931Pro) c.5423A>C (p.Gln1808Pro) n.5792A>C | |
| 13 | g.32340147A>G | CA023244 | BRCA2 | c.5792A>G (p.Gln1931Arg) c.5423A>G (p.Gln1808Arg) n.5792A>G | ClinVar dbSNP |
| 13 | g.32340147A>T | CA387787177 | BRCA2 | c.5792A>T (p.Gln1931Leu) c.5423A>T (p.Gln1808Leu) n.5792A>T | dbSNP |
| 13 | g.32340150_32340154del | CA658656402 | BRCA2 | c.5795_5799del (p.His1932ProfsTer11) c.5426_5430del (p.His1809ProfsTer11) n.5795_5799del | ClinVar dbSNP |
| 13 | g.32340148A= | CA2082827656 | BRCA2 | c.5793A= (p.Gln1931=) c.5424A= (p.Gln1808=) n.5793A= | |
| 13 | g.32340148A>C | CA387787182 | BRCA2 | c.5793A>C (p.Gln1931His) c.5424A>C (p.Gln1808His) n.5793A>C | |
| 13 | g.32340148A>G | CA023247 | BRCA2 | c.5793A>G (p.Gln1931=) c.5424A>G (p.Gln1808=) n.5793A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340148A>T | CA387787181 | BRCA2 | c.5793A>T (p.Gln1931His) c.5424A>T (p.Gln1808His) n.5793A>T | dbSNP |
| 13 | g.32340148_32340155delinsACATAACC | CA2082827658 | BRCA2 | c.5793_5800delinsACATAACC (p.Gln1931=) c.5424_5431delinsACATAACC (p.Gln1808=) n.5793_5800delinsACATAACC | |
| 13 | g.32340149C>A | CA387787184 | BRCA2 | c.5794C>A (p.His1932Asn) c.5425C>A (p.His1809Asn) n.5794C>A | dbSNP |
| 13 | g.32340149C>G | CA387787185 | BRCA2 | c.5794C>G (p.His1932Asp) c.5425C>G (p.His1809Asp) n.5794C>G | dbSNP |
| 13 | g.32340149C>T | CA387787186 | BRCA2 | c.5794C>T (p.His1932Tyr) c.5425C>T (p.His1809Tyr) n.5794C>T | ClinVar dbSNP |
| 13 | g.32340149_32340151del | CA2622600952 | BRCA2 | c.5794_5796del (p.His1932del) c.5425_5427del (p.His1809del) n.5794_5796del | gnomAD v4 |
| 13 | g.32340149_32340151delinsCAT | CA2082827684 | BRCA2 | c.5794_5796delinsCAT (p.His1932=) c.5425_5427delinsCAT (p.His1809=) n.5794_5796delinsCAT | |
| 13 | g.32340149_32340155delinsT | CA658656403 | BRCA2 | c.5794_5800delinsT (p.His1932Ter) c.5425_5431delinsT (p.His1809Ter) n.5794_5800delinsT | ClinVar dbSNP |
| 13 | g.32340150del | CA2573053816 | BRCA2 | c.5795del (p.His1932LeufsTer?) c.5426del (p.His1809LeufsTer?) n.5795del | ClinVar dbSNP |
| 13 | g.32340150A= | CA2082827692 | BRCA2 | c.5795A= (p.His1932=) c.5426A= (p.His1809=) n.5795A= | |
| 13 | g.32340150A>C | CA387787188 | BRCA2 | c.5795A>C (p.His1932Pro) c.5426A>C (p.His1809Pro) n.5795A>C | |
| 13 | g.32340150A>G | CA387787190 | BRCA2 | c.5795A>G (p.His1932Arg) c.5426A>G (p.His1809Arg) n.5795A>G | ClinVar dbSNP |
| 13 | g.32340150A>T | CA387787191 | BRCA2 | c.5795A>T (p.His1932Leu) c.5426A>T (p.His1809Leu) n.5795A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340151_32340152del | CA023249 | BRCA2 | c.5796_5797del (p.His1932GlnfsTer12) c.5427_5428del (p.His1809GlnfsTer12) n.5796_5797del | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.32340151T>A | CA023252 | BRCA2 | c.5796T>A (p.His1932Gln) c.5427T>A (p.His1809Gln) n.5796T>A | ClinVar dbSNP |
| 13 | g.32340151T>C | CA483438925 | BRCA2 | c.5796T>C (p.His1932=) c.5427T>C (p.His1809=) n.5796T>C | dbSNP |
| 13 | g.32340151T>G | CA387787195 | BRCA2 | c.5796T>G (p.His1932Gln) c.5427T>G (p.His1809Gln) n.5796T>G | ClinVar dbSNP |
| 13 | g.32340151T= | CA2082827698 | BRCA2 | c.5796T= (p.His1932=) c.5427T= (p.His1809=) n.5796T= | |
| 13 | g.32340151_32340155delinsTAACC | CA2082827697 | BRCA2 | c.5796_5800delinsTAACC (p.His1932=) c.5427_5431delinsTAACC (p.His1809=) n.5796_5800delinsTAACC | |
| 13 | g.32340152A>C | CA387787199 | BRCA2 | c.5797A>C (p.Asn1933His) c.5428A>C (p.Asn1810His) n.5797A>C | |
| 13 | g.32340152A>G | CA387787198 | BRCA2 | c.5797A>G (p.Asn1933Asp) c.5428A>G (p.Asn1810Asp) n.5797A>G | dbSNP |
| 13 | g.32340152A>T | CA387787196 | BRCA2 | c.5797A>T (p.Asn1933Tyr) c.5428A>T (p.Asn1810Tyr) n.5797A>T | dbSNP |
| 13 | g.32340154_32340157del | CA023256 | BRCA2 | c.5799_5802del (p.Asn1933LysfsTer29) c.5430_5433del (p.Asn1810LysfsTer29) n.5799_5802del | ClinVar dbSNP |
| 13 | g.32340153A= | CA2082827713 | BRCA2 | c.5798A= (p.Asn1933=) c.5429A= (p.Asn1810=) n.5798A= | |
| 13 | g.32340153A>C | CA387787201 | BRCA2 | c.5798A>C (p.Asn1933Thr) c.5429A>C (p.Asn1810Thr) n.5798A>C | |
| 13 | g.32340153A>G | CA10583116 | BRCA2 | c.5798A>G (p.Asn1933Ser) c.5429A>G (p.Asn1810Ser) n.5798A>G | ClinVar dbSNP |
| 13 | g.32340153A>T | CA387787203 | BRCA2 | c.5798A>T (p.Asn1933Ile) c.5429A>T (p.Asn1810Ile) n.5798A>T | |
| 13 | g.32340153_32340155delinsACC | CA2082827722 | BRCA2 | c.5798_5800delinsACC (p.Asn1933=) c.5429_5431delinsACC (p.Asn1810=) n.5798_5800delinsACC | |
| 13 | g.32340154C>A | CA387787205 | BRCA2 | c.5799C>A (p.Asn1933Lys) c.5430C>A (p.Asn1810Lys) n.5799C>A | dbSNP COSMIC COSMIC |
| 13 | g.32340154C= | CA2082827731 | BRCA2 | c.5799C= (p.Asn1933=) c.5430C= (p.Asn1810=) n.5799C= | |
| 13 | g.32340154C>G | CA387787207 | BRCA2 | c.5799C>G (p.Asn1933Lys) c.5430C>G (p.Asn1810Lys) n.5799C>G | ClinVar dbSNP |
| 13 | g.32340154C>T | CA483438927 | BRCA2 | c.5799C>T (p.Asn1933=) c.5430C>T (p.Asn1810=) n.5799C>T | ClinVar dbSNP |
| 13 | g.32340154_32340155insTTTCTC | CA919242562 | BRCA2 | c.5799_5800insTTTCTC (p.Asn1933_Gln1934insPheLeu) c.5430_5431insTTTCTC (p.Asn1810_Gln1811insPheLeu) n.5799_5800insTTTCTC | dbSNP gnomAD v4 |
| 13 | g.32340154_32340155del | CA023254 | BRCA2 | c.5799_5800del (p.Asn1933LysfsTer11) c.5430_5431del (p.Asn1810LysfsTer11) n.5799_5800del | ClinVar dbSNP |
| 13 | g.32340154_32340155insA | CA919242563 | BRCA2 | c.5799_5800insA (p.Gln1934ThrfsTer11) c.5430_5431insA (p.Gln1811ThrfsTer11) n.5799_5800insA | dbSNP |
| 13 | g.32340155C>A | CA387787209 | BRCA2 | c.5800C>A (p.Gln1934Lys) c.5431C>A (p.Gln1811Lys) n.5800C>A | |
| 13 | g.32340155C= | CA2082827735 | BRCA2 | c.5800C= (p.Gln1934=) c.5431C= (p.Gln1811=) n.5800C= | |
| 13 | g.32340155C>G | CA387787210 | BRCA2 | c.5800C>G (p.Gln1934Glu) c.5431C>G (p.Gln1811Glu) n.5800C>G | |
| 13 | g.32340155C>T | CA10589329 | BRCA2 | c.5800C>T (p.Gln1934Ter) c.5431C>T (p.Gln1811Ter) n.5800C>T | ClinVar dbSNP |
| 13 | g.32340156A>C | CA387787212 | BRCA2 | c.5801A>C (p.Gln1934Pro) c.5432A>C (p.Gln1811Pro) n.5801A>C | dbSNP |
| 13 | g.32340156A>G | CA387787214 | BRCA2 | c.5801A>G (p.Gln1934Arg) c.5432A>G (p.Gln1811Arg) n.5801A>G | |
| 13 | g.32340156A>T | CA387787215 | BRCA2 | c.5801A>T (p.Gln1934Leu) c.5432A>T (p.Gln1811Leu) n.5801A>T | dbSNP |
| 13 | g.32340159del | CA658761195 | BRCA2 | c.5804del (p.Asn1935IlefsTer28) c.5435del (p.Asn1812IlefsTer28) n.5804del | |
| 13 | g.32340157A= | CA2082827745 | BRCA2 | c.5802A= (p.Gln1934=) c.5433A= (p.Gln1811=) n.5802A= | |
| 13 | g.32340157A>C | CA387787219 | BRCA2 | c.5802A>C (p.Gln1934His) c.5433A>C (p.Gln1811His) n.5802A>C | |
| 13 | g.32340157A>G | CA483438928 | BRCA2 | c.5802A>G (p.Gln1934=) c.5433A>G (p.Gln1811=) n.5802A>G | |
| 13 | g.32340157A>T | CA387787217 | BRCA2 | c.5802A>T (p.Gln1934His) c.5433A>T (p.Gln1811His) n.5802A>T | dbSNP |
| 13 | g.32340157_32340158delinsAA | CA2082827743 | BRCA2 | c.5802_5803delinsAA (p.Gln1934=) c.5433_5434delinsAA (p.Gln1811=) n.5802_5803delinsAA | |
| 13 | g.32340157_32340158insT | CA2499222213 | BRCA2 | c.5802_5803insT (p.Asn1935Ter) c.5433_5434insT (p.Asn1812Ter) n.5802_5803insT | dbSNP |
| 13 | g.32340157_32340158insTCC | CA919242565 | BRCA2 | c.5802_5803insTCC (p.Gln1934_Asn1935insSer) c.5433_5434insTCC (p.Gln1811_Asn1812insSer) n.5802_5803insTCC | dbSNP gnomAD v4 |
| 13 | g.32340158A= | CA2082827752 | BRCA2 | c.5803A= (p.Asn1935=) c.5434A= (p.Asn1812=) n.5803A= | |
| 13 | g.32340158A>C | CA387787221 | BRCA2 | c.5803A>C (p.Asn1935His) c.5434A>C (p.Asn1812His) n.5803A>C | |
| 13 | g.32340158A>G | CA387787223 | BRCA2 | c.5803A>G (p.Asn1935Asp) c.5434A>G (p.Asn1812Asp) n.5803A>G | dbSNP |
| 13 | g.32340158A>T | CA387787222 | BRCA2 | c.5803A>T (p.Asn1935Tyr) c.5434A>T (p.Asn1812Tyr) n.5803A>T | ClinVar dbSNP |
| 13 | g.32340158delinsTT | CA658823666 | BRCA2 | c.5803delinsTT (p.Asn1935LeufsTer10) c.5434delinsTT (p.Asn1812LeufsTer10) n.5803delinsTT | ClinVar dbSNP |
| 13 | g.32340158_32340159insGAC | CA919242568 | BRCA2 | c.5803_5804insGAC (p.Asn1935delinsArgHis) c.5434_5435insGAC (p.Asn1812delinsArgHis) n.5803_5804insGAC | dbSNP gnomAD v4 |
| 13 | g.32340159A= | CA2082827757 | BRCA2 | c.5804A= (p.Asn1935=) c.5435A= (p.Asn1812=) n.5804A= | |
| 13 | g.32340159A>C | CA387787225 | BRCA2 | c.5804A>C (p.Asn1935Thr) c.5435A>C (p.Asn1812Thr) n.5804A>C | |
| 13 | g.32340159A>G | CA023260 | BRCA2 | c.5804A>G (p.Asn1935Ser) c.5435A>G (p.Asn1812Ser) n.5804A>G | ClinVar dbSNP |
| 13 | g.32340159A>T | CA387787226 | BRCA2 | c.5804A>T (p.Asn1935Ile) c.5435A>T (p.Asn1812Ile) n.5804A>T | dbSNP |
| 13 | g.32340159_32340162del | CA2695217902 | BRCA2 | c.5804_5807del (p.Asn1935SerfsTer27) c.5435_5438del (p.Asn1812SerfsTer27) n.5804_5807del | |
| 13 | g.32340161_32340162del | CA2575387727 | BRCA2 | c.5806_5807del (p.Met1936ValfsTer8) c.5437_5438del (p.Met1813ValfsTer8) n.5806_5807del | ClinVar |
| 13 | g.32340160T>A | CA387787228 | BRCA2 | c.5805T>A (p.Asn1935Lys) c.5436T>A (p.Asn1812Lys) n.5805T>A | dbSNP |
| 13 | g.32340160T>C | CA483438932 | BRCA2 | c.5805T>C (p.Asn1935=) c.5436T>C (p.Asn1812=) n.5805T>C | ClinVar |
| 13 | g.32340160T>G | CA387787230 | BRCA2 | c.5805T>G (p.Asn1935Lys) c.5436T>G (p.Asn1812Lys) n.5805T>G | |
| 13 | g.32340160_32340161insGC | CA2571181094 | BRCA2 | c.5805_5806insGC (p.Met1936AlafsTer28) c.5436_5437insGC (p.Met1813AlafsTer28) n.5805_5806insGC | |
| 13 | g.32340161A= | CA2082827778 | BRCA2 | c.5806A= (p.Met1936=) c.5437A= (p.Met1813=) n.5806A= | |
| 13 | g.32340161A>C | CA387787232 | BRCA2 | c.5806A>C (p.Met1936Leu) c.5437A>C (p.Met1813Leu) n.5806A>C | ClinVar |
| 13 | g.32340161A>G | CA387787233 | BRCA2 | c.5806A>G (p.Met1936Val) c.5437A>G (p.Met1813Val) n.5806A>G | ClinVar dbSNP |
| 13 | g.32340161A>T | CA387787235 | BRCA2 | c.5806A>T (p.Met1936Leu) c.5437A>T (p.Met1813Leu) n.5806A>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340161_32340162delinsAT | CA2082827773 | BRCA2 | c.5806_5807delinsAT (p.Met1936=) c.5437_5438delinsAT (p.Met1813=) n.5806_5807delinsAT | |
| 13 | g.32340161_32340165delinsATGTC | CA2082827769 | BRCA2 | c.5806_5810delinsATGTC (p.Met1936=) c.5437_5441delinsATGTC (p.Met1813=) n.5806_5810delinsATGTC | |
| 13 | g.32340161_32340171delinsATGTCTGGATT | CA2082827776 | BRCA2 | c.5806_5816delinsATGTCTGGATT (p.Met1936=) c.5437_5447delinsATGTCTGGATT (p.Met1813=) n.5806_5816delinsATGTCTGGATT | |
| 13 | g.32340162del | CA658798121 | BRCA2 | c.5807del (p.Met1936SerfsTer27) c.5438del (p.Met1813SerfsTer27) n.5807del | ClinVar dbSNP |
| 13 | g.32340162T>A | CA387787237 | BRCA2 | c.5807T>A (p.Met1936Lys) c.5438T>A (p.Met1813Lys) n.5807T>A | dbSNP |
| 13 | g.32340162T>C | CA387787238 | BRCA2 | c.5807T>C (p.Met1936Thr) c.5438T>C (p.Met1813Thr) n.5807T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340162T>G | CA387787240 | BRCA2 | c.5807T>G (p.Met1936Arg) c.5438T>G (p.Met1813Arg) n.5807T>G | ClinVar dbSNP |
| 13 | g.32340162T= | CA2082827810 | BRCA2 | c.5807T= (p.Met1936=) c.5438T= (p.Met1813=) n.5807T= | |
| 13 | g.32340162_32340163delinsTG | CA2082827793 | BRCA2 | c.5807_5808delinsTG (p.Met1936=) c.5438_5439delinsTG (p.Met1813=) n.5807_5808delinsTG | |
| 13 | g.32340163_32340164del | CA2740097657 | BRCA2 | c.5808_5809del (p.Met1936IlefsTer8) c.5439_5440del (p.Met1813IlefsTer8) n.5808_5809del | ClinVar |
| 13 | g.32340164_32340167del | CA10589330 | BRCA2 | c.5809_5812del (p.Ser1937AspfsTer25) c.5440_5443del (p.Ser1814AspfsTer25) n.5809_5812del | ClinVar dbSNP |
| 13 | g.32340162_32340171delinsGTC | CA658656404 | BRCA2 | c.5807_5816delinsGTC (p.Met1936SerfsTer25) c.5438_5447delinsGTC (p.Met1813SerfsTer25) n.5807_5816delinsGTC | ClinVar dbSNP |
| 13 | g.32340163del | CA919242569 | BRCA2 | c.5808del (p.Met1936IlefsTer27) c.5439del (p.Met1813IlefsTer27) n.5808del | dbSNP gnomAD v4 |
| 13 | g.32340163G>A | CA023262 | BRCA2 | c.5808G>A (p.Met1936Ile) c.5439G>A (p.Met1813Ile) n.5808G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32340163G>C | CA387787242 | BRCA2 | c.5808G>C (p.Met1936Ile) c.5439G>C (p.Met1813Ile) n.5808G>C | dbSNP |
| 13 | g.32340163G= | CA2082827825 | BRCA2 | c.5808G= (p.Met1936=) c.5439G= (p.Met1813=) n.5808G= | |
| 13 | g.32340163G>T | CA387787244 | BRCA2 | c.5808G>T (p.Met1936Ile) c.5439G>T (p.Met1813Ile) n.5808G>T | ClinVar dbSNP |
| 13 | g.32340164T>A | CA387787245 | BRCA2 | c.5809T>A (p.Ser1937Thr) c.5440T>A (p.Ser1814Thr) n.5809T>A | dbSNP |
| 13 | g.32340164T>C | CA387787247 | BRCA2 | c.5809T>C (p.Ser1937Pro) c.5440T>C (p.Ser1814Pro) n.5809T>C | dbSNP |
| 13 | g.32340164T>G | CA387787248 | BRCA2 | c.5809T>G (p.Ser1937Ala) c.5440T>G (p.Ser1814Ala) n.5809T>G | ClinVar |
| 13 | g.32340165_32340166del | CA658761196 | BRCA2 | c.5810_5811del (p.Ser1937TrpfsTer7) c.5441_5442del (p.Ser1814TrpfsTer7) n.5810_5811del | |
| 13 | g.32340164_32340169delinsTCTGGA | CA2082827831 | BRCA2 | c.5809_5814delinsTCTGGA (p.Ser1937=) c.5440_5445delinsTCTGGA (p.Ser1814=) n.5809_5814delinsTCTGGA | |
| 13 | g.32340165C>A | CA387787250 | BRCA2 | c.5810C>A (p.Ser1937Tyr) c.5441C>A (p.Ser1814Tyr) n.5810C>A | dbSNP |
| 13 | g.32340165C= | CA2082827842 | BRCA2 | c.5810C= (p.Ser1937=) c.5441C= (p.Ser1814=) n.5810C= | |
| 13 | g.32340165C>G | CA387787252 | BRCA2 | c.5810C>G (p.Ser1937Cys) c.5441C>G (p.Ser1814Cys) n.5810C>G | dbSNP |
| 13 | g.32340165C>T | CA387787253 | BRCA2 | c.5810C>T (p.Ser1937Phe) c.5441C>T (p.Ser1814Phe) n.5810C>T | dbSNP |
| 13 | g.32340165_32340167delinsCTG | CA2082827840 | BRCA2 | c.5810_5812delinsCTG (p.Ser1937=) c.5441_5443delinsCTG (p.Ser1814=) n.5810_5812delinsCTG | |
| 13 | g.32340165_32340169del | CA919242570 | BRCA2 | c.5810_5814del (p.Ser1937PhefsTer6) c.5441_5445del (p.Ser1814PhefsTer6) n.5810_5814del | dbSNP gnomAD v4 |
| 13 | g.32340166T>A | CA483438968 | BRCA2 | c.5811T>A (p.Ser1937=) c.5442T>A (p.Ser1814=) n.5811T>A | |
| 13 | g.32340166T>C | CA483438969 | BRCA2 | c.5811T>C (p.Ser1937=) c.5442T>C (p.Ser1814=) n.5811T>C | |
| 13 | g.32340166T>G | CA483438970 | BRCA2 | c.5811T>G (p.Ser1937=) c.5442T>G (p.Ser1814=) n.5811T>G | |
| 13 | g.32340166_32340167del | CA10589331 | BRCA2 | c.5811_5812del (p.Gly1938IlefsTer6) c.5442_5443del (p.Gly1815IlefsTer6) n.5811_5812del | ClinVar dbSNP |
| 13 | g.32340167G>A | CA387787255 | BRCA2 | c.5812G>A (p.Gly1938Arg) c.5443G>A (p.Gly1815Arg) n.5812G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340167G>C | CA6940904 | BRCA2 | c.5812G>C (p.Gly1938Arg) c.5443G>C (p.Gly1815Arg) n.5812G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340167G= | CA2082827849 | BRCA2 | c.5812G= (p.Gly1938=) c.5443G= (p.Gly1815=) n.5812G= | |
| 13 | g.32340167G>T | CA387787258 | BRCA2 | c.5812G>T (p.Gly1938Ter) c.5443G>T (p.Gly1815Ter) n.5812G>T | dbSNP |
| 13 | g.32340167_32340168delinsC | CA2580087780 | BRCA2 | c.5812_5813delinsC (p.Gly1938HisfsTer25) c.5443_5444delinsC (p.Gly1815HisfsTer25) n.5812_5813delinsC | ClinVar |
| 13 | g.32340168G>A | CA387787259 | BRCA2 | c.5813G>A (p.Gly1938Glu) c.5444G>A (p.Gly1815Glu) n.5813G>A | ClinVar dbSNP |
| 13 | g.32340168G>C | CA023264 | BRCA2 | c.5813G>C (p.Gly1938Ala) c.5444G>C (p.Gly1815Ala) n.5813G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340168G= | CA2082827857 | BRCA2 | c.5813G= (p.Gly1938=) c.5444G= (p.Gly1815=) n.5813G= | |
| 13 | g.32340168G>T | CA387787261 | BRCA2 | c.5813G>T (p.Gly1938Val) c.5444G>T (p.Gly1815Val) n.5813G>T | ClinVar dbSNP |
| 13 | g.32340169_32340172del | CA1139770796 | BRCA2 | c.5814_5817del (p.Leu1939ArgfsTer23) c.5445_5448del (p.Leu1816ArgfsTer23) n.5814_5817del | |
| 13 | g.32340169A>C | CA483438975 | BRCA2 | c.5814A>C (p.Gly1938=) c.5445A>C (p.Gly1815=) n.5814A>C | ClinVar |
| 13 | g.32340169A>G | CA483438976 | BRCA2 | c.5814A>G (p.Gly1938=) c.5445A>G (p.Gly1815=) n.5814A>G | dbSNP |
| 13 | g.32340169A>T | CA483438974 | BRCA2 | c.5814A>T (p.Gly1938=) c.5445A>T (p.Gly1815=) n.5814A>T | ClinVar dbSNP |
| 13 | g.32340170T>A | CA387787262 | BRCA2 | c.5815T>A (p.Leu1939Met) c.5446T>A (p.Leu1816Met) n.5815T>A | ClinVar dbSNP |
| 13 | g.32340170T>C | CA483438977 | BRCA2 | c.5815T>C (p.Leu1939=) c.5446T>C (p.Leu1816=) n.5815T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340170T>G | CA387787264 | BRCA2 | c.5815T>G (p.Leu1939Val) c.5446T>G (p.Leu1816Val) n.5815T>G | dbSNP |
| 13 | g.32340170T= | CA2082827865 | BRCA2 | c.5815T= (p.Leu1939=) c.5446T= (p.Leu1816=) n.5815T= | |
| 13 | g.32340171T>A | CA387787266 | BRCA2 | c.5816T>A (p.Leu1939Ter) c.5447T>A (p.Leu1816Ter) n.5816T>A | ClinVar dbSNP |
| 13 | g.32340171T>C | CA387787269 | BRCA2 | c.5816T>C (p.Leu1939Ser) c.5447T>C (p.Leu1816Ser) n.5816T>C | ClinVar gnomAD v4 |
| 13 | g.32340171T>G | CA387787267 | BRCA2 | c.5816T>G (p.Leu1939Trp) c.5447T>G (p.Leu1816Trp) n.5816T>G | |
| 13 | g.32340171T= | CA2082827871 | BRCA2 | c.5816T= (p.Leu1939=) c.5447T= (p.Leu1816=) n.5816T= | |
| 13 | g.32340172G>A | CA483438978 | BRCA2 | c.5817G>A (p.Leu1939=) c.5448G>A (p.Leu1816=) n.5817G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340172G>C | CA387787270 | BRCA2 | c.5817G>C (p.Leu1939Phe) c.5448G>C (p.Leu1816Phe) n.5817G>C | dbSNP |
| 13 | g.32340172G>T | CA387787272 | BRCA2 | c.5817G>T (p.Leu1939Phe) c.5448G>T (p.Leu1816Phe) n.5817G>T | dbSNP |
| 13 | g.32340172_32340178delinsGGAGAAA | CA2082827877 | BRCA2 | c.5817_5823delinsGGAGAAA (p.Leu1939=) c.5448_5454delinsGGAGAAA (p.Leu1816=) n.5817_5823delinsGGAGAAA | |
| 13 | g.32340173G>A | CA387787273 | BRCA2 | c.5818G>A (p.Glu1940Lys) c.5449G>A (p.Glu1817Lys) n.5818G>A | ClinVar |
| 13 | g.32340173G>C | CA387787275 | BRCA2 | c.5818G>C (p.Glu1940Gln) c.5449G>C (p.Glu1817Gln) n.5818G>C | |
| 13 | g.32340173G= | CA2082827889 | BRCA2 | c.5818G= (p.Glu1940=) c.5449G= (p.Glu1817=) n.5818G= | |
| 13 | g.32340173G>T | CA387787277 | BRCA2 | c.5818G>T (p.Glu1940Ter) c.5449G>T (p.Glu1817Ter) n.5818G>T | ClinVar dbSNP |
| 13 | g.32340174_32340179del | CA919242571 | BRCA2 | c.5819_5824del (p.Glu1940_Lys1941del) c.5450_5455del (p.Glu1817_Lys1818del) n.5819_5824del | dbSNP gnomAD v4 |
| 13 | g.32340173_32340187delinsGAGAAAGTTTCTAAA | CA2082827888 | BRCA2 | c.5818_5832delinsGAGAAAGTTTCTAAA (p.Glu1940=) c.5449_5463delinsGAGAAAGTTTCTAAA (p.Glu1817=) n.5818_5832delinsGAGAAAGTTTCTAAA | |
| 13 | g.32340174A= | CA2082827898 | BRCA2 | c.5819A= (p.Glu1940=) c.5450A= (p.Glu1817=) n.5819A= | |
| 13 | g.32340174A>C | CA387787278 | BRCA2 | c.5819A>C (p.Glu1940Ala) c.5450A>C (p.Glu1817Ala) n.5819A>C | ClinVar dbSNP |
| 13 | g.32340174A>G | CA387787280 | BRCA2 | c.5819A>G (p.Glu1940Gly) c.5450A>G (p.Glu1817Gly) n.5819A>G | ClinVar dbSNP |
| 13 | g.32340174A>T | CA387787282 | BRCA2 | c.5819A>T (p.Glu1940Val) c.5450A>T (p.Glu1817Val) n.5819A>T | dbSNP |
| 13 | g.32340175_32340188del | CA023268 | BRCA2 | c.5820_5833del (p.Glu1940AspfsTer5) c.5451_5464del (p.Glu1817AspfsTer5) n.5820_5833del | ClinVar dbSNP |
| 13 | g.32340175G>A | CA483438980 | BRCA2 | c.5820G>A (p.Glu1940=) c.5451G>A (p.Glu1817=) n.5820G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340175G>C | CA387787283 | BRCA2 | c.5820G>C (p.Glu1940Asp) c.5451G>C (p.Glu1817Asp) n.5820G>C | dbSNP |
| 13 | g.32340175G= | CA2082827908 | BRCA2 | c.5820G= (p.Glu1940=) c.5451G= (p.Glu1817=) n.5820G= | |
| 13 | g.32340175G>T | CA387787284 | BRCA2 | c.5820G>T (p.Glu1940Asp) c.5451G>T (p.Glu1817Asp) n.5820G>T | dbSNP |
| 13 | g.32340175_32340176delinsGA | CA2082827907 | BRCA2 | c.5820_5821delinsGA (p.Glu1940=) c.5451_5452delinsGA (p.Glu1817=) n.5820_5821delinsGA | |
| 13 | g.32340176A= | CA2082827926 | BRCA2 | c.5821A= (p.Lys1941=) c.5452A= (p.Lys1818=) n.5821A= | |
| 13 | g.32340176A>C | CA387787290 | BRCA2 | c.5821A>C (p.Lys1941Gln) c.5452A>C (p.Lys1818Gln) n.5821A>C | ClinVar dbSNP |
| 13 | g.32340176A>G | CA387787288 | BRCA2 | c.5821A>G (p.Lys1941Glu) c.5452A>G (p.Lys1818Glu) n.5821A>G | ClinVar dbSNP |
| 13 | g.32340176A>T | CA387787287 | BRCA2 | c.5821A>T (p.Lys1941Ter) c.5452A>T (p.Lys1818Ter) n.5821A>T | dbSNP |
| 13 | g.32340178del | CA023272 | BRCA2 | c.5823del (p.Val1942PhefsTer21) c.5454del (p.Val1819PhefsTer21) n.5823del | ClinVar dbSNP |
| 13 | g.32340177_32340178del | CA2580087781 | BRCA2 | c.5822_5823del (p.Lys1941SerfsTer3) c.5453_5454del (p.Lys1818SerfsTer3) n.5822_5823del | ClinVar |
| 13 | g.32340177A>C | CA387787291 | BRCA2 | c.5822A>C (p.Lys1941Thr) c.5453A>C (p.Lys1818Thr) n.5822A>C | |
| 13 | g.32340177A>G | CA387787292 | BRCA2 | c.5822A>G (p.Lys1941Arg) c.5453A>G (p.Lys1818Arg) n.5822A>G | |
| 13 | g.32340177A>T | CA387787294 | BRCA2 | c.5822A>T (p.Lys1941Ile) c.5453A>T (p.Lys1818Ile) n.5822A>T | dbSNP |
| 13 | g.32340178A>C | CA387787295 | BRCA2 | c.5823A>C (p.Lys1941Asn) c.5454A>C (p.Lys1818Asn) n.5823A>C | |
| 13 | g.32340178A>G | CA483438982 | BRCA2 | c.5823A>G (p.Lys1941=) c.5454A>G (p.Lys1818=) n.5823A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340178A>T | CA387787297 | BRCA2 | c.5823A>T (p.Lys1941Asn) c.5454A>T (p.Lys1818Asn) n.5823A>T | dbSNP |
| 13 | g.32340179del | CA2697551802 | BRCA2 | c.5824del (p.Val1942PhefsTer21) c.5455del (p.Val1819PhefsTer21) n.5824del | ClinVar |
| 13 | g.32340179G>A | CA387787299 | BRCA2 | c.5824G>A (p.Val1942Ile) c.5455G>A (p.Val1819Ile) n.5824G>A | dbSNP |
| 13 | g.32340179G>C | CA387787300 | BRCA2 | c.5824G>C (p.Val1942Leu) c.5455G>C (p.Val1819Leu) n.5824G>C | ClinVar dbSNP |
| 13 | g.32340179G>T | CA387787301 | BRCA2 | c.5824G>T (p.Val1942Phe) c.5455G>T (p.Val1819Phe) n.5824G>T | dbSNP |
| 13 | g.32340179_32340181delinsGTT | CA2082827951 | BRCA2 | c.5824_5826delinsGTT (p.Val1942=) c.5455_5457delinsGTT (p.Val1819=) n.5824_5826delinsGTT | |
| 13 | g.32340180T>A | CA387787303 | BRCA2 | c.5825T>A (p.Val1942Asp) c.5456T>A (p.Val1819Asp) n.5825T>A | dbSNP |
| 13 | g.32340180T>C | CA387787305 | BRCA2 | c.5825T>C (p.Val1942Ala) c.5456T>C (p.Val1819Ala) n.5825T>C | ClinVar |
| 13 | g.32340180T>G | CA387787306 | BRCA2 | c.5825T>G (p.Val1942Gly) c.5456T>G (p.Val1819Gly) n.5825T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340180T= | CA2082827958 | BRCA2 | c.5825T= (p.Val1942=) c.5456T= (p.Val1819=) n.5825T= | |
| 13 | g.32340182del | CA2580610728 | BRCA2 | c.5827del (p.Ser1943LeufsTer20) c.5458del (p.Ser1820LeufsTer20) n.5827del | |
| 13 | g.32340181_32340182del | CA658798122 | BRCA2 | c.5826_5827del (p.Ser1943Ter) c.5457_5458del (p.Ser1820Ter) n.5826_5827del | ClinVar dbSNP |
| 13 | g.32340181T>A | CA483438984 | BRCA2 | c.5826T>A (p.Val1942=) c.5457T>A (p.Val1819=) n.5826T>A | dbSNP |
| 13 | g.32340181T>C | CA483438985 | BRCA2 | c.5826T>C (p.Val1942=) c.5457T>C (p.Val1819=) n.5826T>C | dbSNP |
| 13 | g.32340181T>G | CA483438986 | BRCA2 | c.5826T>G (p.Val1942=) c.5457T>G (p.Val1819=) n.5826T>G | |
| 13 | g.32340182T>A | CA387787311 | BRCA2 | c.5827T>A (p.Ser1943Thr) c.5458T>A (p.Ser1820Thr) n.5827T>A | dbSNP |
| 13 | g.32340182T>C | CA387787309 | BRCA2 | c.5827T>C (p.Ser1943Pro) c.5458T>C (p.Ser1820Pro) n.5827T>C | dbSNP |
| 13 | g.32340182T>G | CA387787307 | BRCA2 | c.5827T>G (p.Ser1943Ala) c.5458T>G (p.Ser1820Ala) n.5827T>G | |
| 13 | g.32340182_32340183delinsTC | CA2082827972 | BRCA2 | c.5827_5828delinsTC (p.Ser1943=) c.5458_5459delinsTC (p.Ser1820=) n.5827_5828delinsTC | |
| 13 | g.32340183_32340184del | CA2825002106 | BRCA2 | c.5828_5829del (p.Ser1943Ter) c.5459_5460del (p.Ser1820Ter) n.5828_5829del | ClinVar |
| 13 | g.32340183del | CA023274 | BRCA2 | c.5828del (p.Ser1943LeufsTer20) c.5459del (p.Ser1820LeufsTer20) n.5828del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340183C>A | CA387787316 | BRCA2 | c.5828C>A (p.Ser1943Tyr) c.5459C>A (p.Ser1820Tyr) n.5828C>A | ClinVar dbSNP |
| 13 | g.32340183C>G | CA387787313 | BRCA2 | c.5828C>G (p.Ser1943Cys) c.5459C>G (p.Ser1820Cys) n.5828C>G | dbSNP |
| 13 | g.32340183C>T | CA387787314 | BRCA2 | c.5828C>T (p.Ser1943Phe) c.5459C>T (p.Ser1820Phe) n.5828C>T | dbSNP |
| 13 | g.32340183_32340185delinsCTA | CA2082827984 | BRCA2 | c.5828_5830delinsCTA (p.Ser1943=) c.5459_5461delinsCTA (p.Ser1820=) n.5828_5830delinsCTA | |
| 13 | g.32340184del | CA387787318 | BRCA2 | c.5829del (p.Ile1945TyrfsTer18) c.5460del (p.Ile1822TyrfsTer18) n.5829del | |
| 13 | g.32340184T>A | CA483438989 | BRCA2 | c.5829T>A (p.Ser1943=) c.5460T>A (p.Ser1820=) n.5829T>A | ClinVar dbSNP |
| 13 | g.32340184T>C | CA483438987 | BRCA2 | c.5829T>C (p.Ser1943=) c.5460T>C (p.Ser1820=) n.5829T>C | ClinVar |
| 13 | g.32340184T>G | CA483438988 | BRCA2 | c.5829T>G (p.Ser1943=) c.5460T>G (p.Ser1820=) n.5829T>G | ClinVar |
| 13 | g.32340184T= | CA2082827994 | BRCA2 | c.5829T= (p.Ser1943=) c.5460T= (p.Ser1820=) n.5829T= | |
| 13 | g.32340184_32340185del | CA023278 | BRCA2 | c.5829_5830del (p.Lys1944AsnfsTer5) c.5460_5461del (p.Lys1821AsnfsTer5) n.5829_5830del | ClinVar dbSNP |
| 13 | g.32340185A= | CA2082828005 | BRCA2 | c.5830A= (p.Lys1944=) c.5461A= (p.Lys1821=) n.5830A= | |
| 13 | g.32340185A>C | CA387787320 | BRCA2 | c.5830A>C (p.Lys1944Gln) c.5461A>C (p.Lys1821Gln) n.5830A>C | |
| 13 | g.32340185A>G | CA387787321 | BRCA2 | c.5830A>G (p.Lys1944Glu) c.5461A>G (p.Lys1821Glu) n.5830A>G | ClinVar dbSNP |
| 13 | g.32340185A>T | CA387787322 | BRCA2 | c.5830A>T (p.Lys1944Ter) c.5461A>T (p.Lys1821Ter) n.5830A>T | ClinVar dbSNP |
| 13 | g.32340188del | CA2573149389 | BRCA2 | c.5833del (p.Ile1945TyrfsTer18) c.5464del (p.Ile1822TyrfsTer18) n.5833del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340185_32340192delinsAAAATATC | CA2082828007 | BRCA2 | c.5830_5837delinsAAAATATC (p.Lys1944=) c.5461_5468delinsAAAATATC (p.Lys1821=) n.5830_5837delinsAAAATATC | |
| 13 | g.32340186A>C | CA387787323 | BRCA2 | c.5831A>C (p.Lys1944Thr) c.5462A>C (p.Lys1821Thr) n.5831A>C | ClinVar dbSNP |
| 13 | g.32340186A>G | CA387787324 | BRCA2 | c.5831A>G (p.Lys1944Arg) c.5462A>G (p.Lys1821Arg) n.5831A>G | |
| 13 | g.32340186A>T | CA387787326 | BRCA2 | c.5831A>T (p.Lys1944Ile) c.5462A>T (p.Lys1821Ile) n.5831A>T | dbSNP |
| 13 | g.32340187_32340193del | CA1139663227 | BRCA2 | c.5832_5838del (p.Lys1944AsnfsTer17) c.5463_5469del (p.Lys1821AsnfsTer17) n.5832_5838del | ClinVar dbSNP |
| 13 | g.32340187A= | CA2082828014 | BRCA2 | c.5832A= (p.Lys1944=) c.5463A= (p.Lys1821=) n.5832A= | |
| 13 | g.32340187A>C | CA387787328 | BRCA2 | c.5832A>C (p.Lys1944Asn) c.5463A>C (p.Lys1821Asn) n.5832A>C | |
| 13 | g.32340187A>G | CA483438991 | BRCA2 | c.5832A>G (p.Lys1944=) c.5463A>G (p.Lys1821=) n.5832A>G | ClinVar dbSNP |
| 13 | g.32340187A>T | CA387787329 | BRCA2 | c.5832A>T (p.Lys1944Asn) c.5463A>T (p.Lys1821Asn) n.5832A>T | |
| 13 | g.32340188A= | CA2082828024 | BRCA2 | c.5833A= (p.Ile1945=) c.5464A= (p.Ile1822=) n.5833A= | |
| 13 | g.32340188A>C | CA387787333 | BRCA2 | c.5833A>C (p.Ile1945Leu) c.5464A>C (p.Ile1822Leu) n.5833A>C | |
| 13 | g.32340188A>G | CA387787331 | BRCA2 | c.5833A>G (p.Ile1945Val) c.5464A>G (p.Ile1822Val) n.5833A>G | dbSNP |
| 13 | g.32340188A>T | CA387787332 | BRCA2 | c.5833A>T (p.Ile1945Leu) c.5464A>T (p.Ile1822Leu) n.5833A>T | dbSNP |
| 13 | g.32340188_32340189insG | CA658823668 | BRCA2 | c.5833_5834insG (p.Ile1945SerfsTer5) c.5464_5465insG (p.Ile1822SerfsTer5) n.5833_5834insG | ClinVar dbSNP |
| 13 | g.32340189T>A | CA387787335 | BRCA2 | c.5834T>A (p.Ile1945Lys) c.5465T>A (p.Ile1822Lys) n.5834T>A | dbSNP |
| 13 | g.32340189T>C | CA387787337 | BRCA2 | c.5834T>C (p.Ile1945Thr) c.5465T>C (p.Ile1822Thr) n.5834T>C | |
| 13 | g.32340189T>G | CA387787339 | BRCA2 | c.5834T>G (p.Ile1945Arg) c.5465T>G (p.Ile1822Arg) n.5834T>G | dbSNP |
| 13 | g.32340189T= | CA2082828041 | BRCA2 | c.5834T= (p.Ile1945=) c.5465T= (p.Ile1822=) n.5834T= | |
| 13 | g.32340190_32340197dup | CA10589332 | BRCA2 | c.5835_5842dup (p.Cys1948TyrfsTer18) c.5466_5473dup (p.Cys1825TyrfsTer18) n.5835_5842dup | ClinVar dbSNP |
| 13 | g.32340190A= | CA2082828059 | BRCA2 | c.5835A= (p.Ile1945=) c.5466A= (p.Ile1822=) n.5835A= | |
| 13 | g.32340190A>C | CA483438995 | BRCA2 | c.5835A>C (p.Ile1945=) c.5466A>C (p.Ile1822=) n.5835A>C | dbSNP |
| 13 | g.32340190A>G | CA387787340 | BRCA2 | c.5835A>G (p.Ile1945Met) c.5466A>G (p.Ile1822Met) n.5835A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340190A>T | CA483438997 | BRCA2 | c.5835A>T (p.Ile1945=) c.5466A>T (p.Ile1822=) n.5835A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340190dup | CA10589333 | BRCA2 | c.5835dup (p.Ser1946IlefsTer4) c.5466dup (p.Ser1823IlefsTer4) n.5835dup | ClinVar dbSNP |
| 13 | g.32340190_32340198dup | CA023293 | BRCA2 | c.5835_5843dup (p.Cys1948Ter) c.5466_5474dup (p.Cys1825Ter) n.5835_5843dup | ClinVar dbSNP |
| 13 | g.32340191T>A | CA387787343 | BRCA2 | c.5836T>A (p.Ser1946Thr) c.5467T>A (p.Ser1823Thr) n.5836T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340191T>C | CA023287 | BRCA2 | c.5836T>C (p.Ser1946Pro) c.5467T>C (p.Ser1823Pro) n.5836T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340191T>G | CA387787344 | BRCA2 | c.5836T>G (p.Ser1946Ala) c.5467T>G (p.Ser1823Ala) n.5836T>G | ClinVar dbSNP |
| 13 | g.32340191T= | CA2082828072 | BRCA2 | c.5836T= (p.Ser1946=) c.5467T= (p.Ser1823=) n.5836T= | |
| 13 | g.32340191_32340192insA | CA023285 | BRCA2 | c.5836_5837insA (p.Ser1946TyrfsTer4) c.5467_5468insA (p.Ser1823TyrfsTer4) n.5836_5837insA | ClinVar dbSNP |
| 13 | g.32340192C>A | CA387787346 | BRCA2 | c.5837C>A (p.Ser1946Ter) c.5468C>A (p.Ser1823Ter) n.5837C>A | dbSNP |
| 13 | g.32340192C>G | CA387787347 | BRCA2 | c.5837C>G (p.Ser1946Ter) c.5468C>G (p.Ser1823Ter) n.5837C>G | dbSNP |
| 13 | g.32340192C>T | CA387787349 | BRCA2 | c.5837C>T (p.Ser1946Leu) c.5468C>T (p.Ser1823Leu) n.5837C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340193A>C | CA483439000 | BRCA2 | c.5838A>C (p.Ser1946=) c.5469A>C (p.Ser1823=) n.5838A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340193A>G | CA483439002 | BRCA2 | c.5838A>G (p.Ser1946=) c.5469A>G (p.Ser1823=) n.5838A>G | dbSNP |
| 13 | g.32340193A>T | CA483439003 | BRCA2 | c.5838A>T (p.Ser1946=) c.5469A>T (p.Ser1823=) n.5838A>T | dbSNP |
| 13 | g.32340194C>A | CA387787353 | BRCA2 | c.5839C>A (p.Pro1947Thr) c.5470C>A (p.Pro1824Thr) n.5839C>A | ClinVar dbSNP |
| 13 | g.32340194C= | CA2082828094 | BRCA2 | c.5839C= (p.Pro1947=) c.5470C= (p.Pro1824=) n.5839C= | |
| 13 | g.32340194C>G | CA387787351 | BRCA2 | c.5839C>G (p.Pro1947Ala) c.5470C>G (p.Pro1824Ala) n.5839C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340194C>T | CA023289 | BRCA2 | c.5839C>T (p.Pro1947Ser) c.5470C>T (p.Pro1824Ser) n.5839C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340195C>A | CA387787354 | BRCA2 | c.5840C>A (p.Pro1947His) c.5471C>A (p.Pro1824His) n.5840C>A | dbSNP |
| 13 | g.32340195C= | CA2082828104 | BRCA2 | c.5840C= (p.Pro1947=) c.5471C= (p.Pro1824=) n.5840C= | |
| 13 | g.32340195C>G | CA387787356 | BRCA2 | c.5840C>G (p.Pro1947Arg) c.5471C>G (p.Pro1824Arg) n.5840C>G | dbSNP |
| 13 | g.32340195C>T | CA336367 | BRCA2 | c.5840C>T (p.Pro1947Leu) c.5471C>T (p.Pro1824Leu) n.5840C>T | ClinVar dbSNP |
| 13 | g.32340195_32340196delinsCT | CA2082828102 | BRCA2 | c.5840_5841delinsCT (p.Pro1947=) c.5471_5472delinsCT (p.Pro1824=) n.5840_5841delinsCT | |
| 13 | g.32340195_32340208delinsCTTGTGATGTTAGT | CA2082828109 | BRCA2 | c.5840_5853delinsCTTGTGATGTTAGT (p.Pro1947=) c.5471_5484delinsCTTGTGATGTTAGT (p.Pro1824=) n.5840_5853delinsCTTGTGATGTTAGT | |
| 13 | g.32340196T>A | CA483439005 | BRCA2 | c.5841T>A (p.Pro1947=) c.5472T>A (p.Pro1824=) n.5841T>A | |
| 13 | g.32340196T>C | CA6940905 | BRCA2 | c.5841T>C (p.Pro1947=) c.5472T>C (p.Pro1824=) n.5841T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340196T>G | CA483439008 | BRCA2 | c.5841T>G (p.Pro1947=) c.5472T>G (p.Pro1824=) n.5841T>G | ClinVar |
| 13 | g.32340196T= | CA2082828126 | BRCA2 | c.5841T= (p.Pro1947=) c.5472T= (p.Pro1824=) n.5841T= | |
| 13 | g.32340197del | CA023291 | BRCA2 | c.5842del (p.Cys1948ValfsTer15) c.5473del (p.Cys1825ValfsTer15) n.5842del | ClinVar dbSNP |
| 13 | g.32340199_32340211del | CA1139663228 | BRCA2 | c.5844_5856del (p.Cys1948TrpfsTer11) c.5475_5487del (p.Cys1825TrpfsTer11) n.5844_5856del | ClinVar dbSNP |
| 13 | g.32340197T>A | CA387787359 | BRCA2 | c.5842T>A (p.Cys1948Ser) c.5473T>A (p.Cys1825Ser) n.5842T>A | dbSNP |
| 13 | g.32340197T>C | CA387787360 | BRCA2 | c.5842T>C (p.Cys1948Arg) c.5473T>C (p.Cys1825Arg) n.5842T>C | ClinVar dbSNP |
| 13 | g.32340197T>G | CA387787362 | BRCA2 | c.5842T>G (p.Cys1948Gly) c.5473T>G (p.Cys1825Gly) n.5842T>G | |
| 13 | g.32340198del | CA2825002107 | BRCA2 | c.5843del (p.Cys1948LeufsTer15) c.5474del (p.Cys1825LeufsTer15) n.5843del | ClinVar |
| 13 | g.32340198G>A | CA6940906 | BRCA2 | c.5843G>A (p.Cys1948Tyr) c.5474G>A (p.Cys1825Tyr) n.5843G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340198G>C | CA387787364 | BRCA2 | c.5843G>C (p.Cys1948Ser) c.5474G>C (p.Cys1825Ser) n.5843G>C | dbSNP |
| 13 | g.32340198G= | CA2082828133 | BRCA2 | c.5843G= (p.Cys1948=) c.5474G= (p.Cys1825=) n.5843G= | |
| 13 | g.32340198G>T | CA387787365 | BRCA2 | c.5843G>T (p.Cys1948Phe) c.5474G>T (p.Cys1825Phe) n.5843G>T | dbSNP gnomAD v4 |
| 13 | g.32340199T>A | CA387787368 | BRCA2 | c.5844T>A (p.Cys1948Ter) c.5475T>A (p.Cys1825Ter) n.5844T>A | dbSNP |
| 13 | g.32340199T>C | CA483439014 | BRCA2 | c.5844T>C (p.Cys1948=) c.5475T>C (p.Cys1825=) n.5844T>C | dbSNP |
| 13 | g.32340199T>G | CA387787369 | BRCA2 | c.5844T>G (p.Cys1948Trp) c.5475T>G (p.Cys1825Trp) n.5844T>G | dbSNP |
| 13 | g.32340200del | CA2580614695 | BRCA2 | c.5845del (p.Asp1949MetfsTer14) c.5476del (p.Asp1826MetfsTer14) n.5845del | ClinVar |
| 13 | g.32340200G>A | CA387787371 | BRCA2 | c.5845G>A (p.Asp1949Asn) c.5476G>A (p.Asp1826Asn) n.5845G>A | dbSNP |
| 13 | g.32340200G>C | CA387787372 | BRCA2 | c.5845G>C (p.Asp1949His) c.5476G>C (p.Asp1826His) n.5845G>C | dbSNP |
| 13 | g.32340200G>T | CA387787373 | BRCA2 | c.5845G>T (p.Asp1949Tyr) c.5476G>T (p.Asp1826Tyr) n.5845G>T | dbSNP |
| 13 | g.32340200_32340201delinsGA | CA2082828139 | BRCA2 | c.5845_5846delinsGA (p.Asp1949=) c.5476_5477delinsGA (p.Asp1826=) n.5845_5846delinsGA | |
| 13 | g.32340201del | CA658653680 | BRCA2 | c.5846del (p.Asp1949ValfsTer14) c.5477del (p.Asp1826ValfsTer14) n.5846del | ClinVar dbSNP |
| 13 | g.32340201A= | CA2082828156 | BRCA2 | c.5846A= (p.Asp1949=) c.5477A= (p.Asp1826=) n.5846A= | |
| 13 | g.32340201A>C | CA387787376 | BRCA2 | c.5846A>C (p.Asp1949Ala) c.5477A>C (p.Asp1826Ala) n.5846A>C | ClinVar |
| 13 | g.32340201A>G | CA023295 | BRCA2 | c.5846A>G (p.Asp1949Gly) c.5477A>G (p.Asp1826Gly) n.5846A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340201A>T | CA387787377 | BRCA2 | c.5846A>T (p.Asp1949Val) c.5477A>T (p.Asp1826Val) n.5846A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340202T>A | CA387787379 | BRCA2 | c.5847T>A (p.Asp1949Glu) c.5478T>A (p.Asp1826Glu) n.5847T>A | dbSNP |
| 13 | g.32340202T>C | CA483439018 | BRCA2 | c.5847T>C (p.Asp1949=) c.5478T>C (p.Asp1826=) n.5847T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340202T>G | CA387787380 | BRCA2 | c.5847T>G (p.Asp1949Glu) c.5478T>G (p.Asp1826Glu) n.5847T>G | dbSNP |
| 13 | g.32340202T= | CA2082828157 | BRCA2 | c.5847T= (p.Asp1949=) c.5478T= (p.Asp1826=) n.5847T= | |
| 13 | g.32340202_32340206delinsTGTTA | CA2082828158 | BRCA2 | c.5847_5851delinsTGTTA (p.Asp1949=) c.5478_5482delinsTGTTA (p.Asp1826=) n.5847_5851delinsTGTTA | |
| 13 | g.32340203G>A | CA023298 | BRCA2 | c.5848G>A (p.Val1950Ile) c.5479G>A (p.Val1827Ile) n.5848G>A | ClinVar dbSNP |
| 13 | g.32340203G>C | CA387787386 | BRCA2 | c.5848G>C (p.Val1950Leu) c.5479G>C (p.Val1827Leu) n.5848G>C | |
| 13 | g.32340203G= | CA2082828173 | BRCA2 | c.5848G= (p.Val1950=) c.5479G= (p.Val1827=) n.5848G= | |
| 13 | g.32340203G>T | CA387787387 | BRCA2 | c.5848G>T (p.Val1950Phe) c.5479G>T (p.Val1827Phe) n.5848G>T | |
| 13 | g.32340206_32340209dup | CA023304 | BRCA2 | c.5851_5854dup (p.Leu1952Ter) c.5482_5485dup (p.Leu1829Ter) n.5851_5854dup | ClinVar dbSNP |
| 13 | g.32340206_32340209del | CA023297 | BRCA2 | c.5851_5854del (p.Ser1951TrpfsTer11) c.5482_5485del (p.Ser1828TrpfsTer11) n.5851_5854del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340204T>A | CA387787389 | BRCA2 | c.5849T>A (p.Val1950Asp) c.5480T>A (p.Val1827Asp) n.5849T>A | dbSNP |
| 13 | g.32340204T>C | CA387787390 | BRCA2 | c.5849T>C (p.Val1950Ala) c.5480T>C (p.Val1827Ala) n.5849T>C | dbSNP |
| 13 | g.32340204T>G | CA387787392 | BRCA2 | c.5849T>G (p.Val1950Gly) c.5480T>G (p.Val1827Gly) n.5849T>G | dbSNP |
| 13 | g.32340205T>A | CA483439021 | BRCA2 | c.5850T>A (p.Val1950=) c.5481T>A (p.Val1827=) n.5850T>A | dbSNP |
| 13 | g.32340205T>C | CA483439022 | BRCA2 | c.5850T>C (p.Val1950=) c.5481T>C (p.Val1827=) n.5850T>C | ClinVar dbSNP |
| 13 | g.32340205T>G | CA483439023 | BRCA2 | c.5850T>G (p.Val1950=) c.5481T>G (p.Val1827=) n.5850T>G | dbSNP |
| 13 | g.32340206A= | CA2082828195 | BRCA2 | c.5851A= (p.Ser1951=) c.5482A= (p.Ser1828=) n.5851A= | |
| 13 | g.32340206A>C | CA387787393 | BRCA2 | c.5851A>C (p.Ser1951Arg) c.5482A>C (p.Ser1828Arg) n.5851A>C | |
| 13 | g.32340206A>G | CA387787395 | BRCA2 | c.5851A>G (p.Ser1951Gly) c.5482A>G (p.Ser1828Gly) n.5851A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340206A>T | CA387787396 | BRCA2 | c.5851A>T (p.Ser1951Cys) c.5482A>T (p.Ser1828Cys) n.5851A>T | dbSNP |
| 13 | g.32340206dup | CA2695217903 | BRCA2 | c.5851dup (p.Ser1951LysfsTer9) c.5482dup (p.Ser1828LysfsTer9) n.5851dup | |
| 13 | g.32340207G>A | CA387787397 | BRCA2 | c.5852G>A (p.Ser1951Asn) c.5483G>A (p.Ser1828Asn) n.5852G>A | ClinVar dbSNP |
| 13 | g.32340207G>C | CA387787399 | BRCA2 | c.5852G>C (p.Ser1951Thr) c.5483G>C (p.Ser1828Thr) n.5852G>C | dbSNP |
| 13 | g.32340207G= | CA2082828200 | BRCA2 | c.5852G= (p.Ser1951=) c.5483G= (p.Ser1828=) n.5852G= | |
| 13 | g.32340207G>T | CA387787401 | BRCA2 | c.5852G>T (p.Ser1951Ile) c.5483G>T (p.Ser1828Ile) n.5852G>T | dbSNP |