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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.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340221G>A | CA387787425 | BRCA2 | c.5866G>A (p.Asp1956Asn) c.5497G>A (p.Asp1833Asn) n.5866G>A | dbSNP |
| 13 | g.32340221G>C | CA023321 | BRCA2 | c.5866G>C (p.Asp1956His) c.5497G>C (p.Asp1833His) n.5866G>C | ClinVar dbSNP |
| 13 | g.32340221G= | CA2082828319 | BRCA2 | c.5866G= (p.Asp1956=) c.5497G= (p.Asp1833=) n.5866G= | |
| 13 | g.32340221G>T | CA387787426 | BRCA2 | c.5866G>T (p.Asp1956Tyr) c.5497G>T (p.Asp1833Tyr) n.5866G>T | dbSNP |
| 13 | g.32340222A= | CA2082828327 | BRCA2 | c.5867A= (p.Asp1956=) c.5498A= (p.Asp1833=) n.5867A= | |
| 13 | g.32340222A>C | CA387787429 | BRCA2 | c.5867A>C (p.Asp1956Ala) c.5498A>C (p.Asp1833Ala) n.5867A>C | |
| 13 | g.32340222A>G | CA387787427 | BRCA2 | c.5867A>G (p.Asp1956Gly) c.5498A>G (p.Asp1833Gly) n.5867A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340222A>T | CA387787428 | BRCA2 | c.5867A>T (p.Asp1956Val) c.5498A>T (p.Asp1833Val) n.5867A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340226_32340227del | CA2580614696 | BRCA2 | c.5871_5872del (p.Ile1957MetfsTer2) c.5502_5503del (p.Ile1834MetfsTer2) n.5871_5872del | ClinVar |
| 13 | g.32340223T>A | CA387787430 | BRCA2 | c.5868T>A (p.Asp1956Glu) c.5499T>A (p.Asp1833Glu) n.5868T>A | dbSNP |
| 13 | g.32340223T>C | CA483439041 | BRCA2 | c.5868T>C (p.Asp1956=) c.5499T>C (p.Asp1833=) n.5868T>C | dbSNP |
| 13 | g.32340223T>G | CA387787431 | BRCA2 | c.5868T>G (p.Asp1956Glu) c.5499T>G (p.Asp1833Glu) n.5868T>G | dbSNP |
| 13 | g.32340223dup | CA2739291767 | BRCA2 | c.5868dup (p.Ile1957TyrfsTer3) c.5499dup (p.Ile1834TyrfsTer3) n.5868dup | |
| 13 | g.32340224A= | CA2082828334 | BRCA2 | c.5869A= (p.Ile1957=) c.5500A= (p.Ile1834=) n.5869A= | |
| 13 | g.32340224A>C | CA387787432 | BRCA2 | c.5869A>C (p.Ile1957Leu) c.5500A>C (p.Ile1834Leu) n.5869A>C | |
| 13 | g.32340224A>G | CA023323 | BRCA2 | c.5869A>G (p.Ile1957Val) c.5500A>G (p.Ile1834Val) n.5869A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340224A>T | CA387787433 | BRCA2 | c.5869A>T (p.Ile1957Leu) c.5500A>T (p.Ile1834Leu) n.5869A>T | dbSNP |
| 13 | g.32340224dup | CA658761198 | BRCA2 | c.5869dup (p.Ile1957AsnfsTer3) c.5500dup (p.Ile1834AsnfsTer3) n.5869dup | |
| 13 | g.32340225T>A | CA387787435 | BRCA2 | c.5870T>A (p.Ile1957Lys) c.5501T>A (p.Ile1834Lys) n.5870T>A | |
| 13 | g.32340225T>C | CA023326 | BRCA2 | c.5870T>C (p.Ile1957Thr) c.5501T>C (p.Ile1834Thr) n.5870T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340225T>G | CA387787434 | BRCA2 | c.5870T>G (p.Ile1957Arg) c.5501T>G (p.Ile1834Arg) n.5870T>G | |
| 13 | g.32340225T= | CA2082828342 | BRCA2 | c.5870T= (p.Ile1957=) c.5501T= (p.Ile1834=) n.5870T= | |
| 13 | g.32340226del | CA2499222214 | BRCA2 | c.5871del (p.Cys1958ValfsTer5) c.5502del (p.Cys1835ValfsTer5) n.5871del | ClinVar dbSNP |
| 13 | g.32340226A= | CA2082828350 | BRCA2 | c.5871A= (p.Ile1957=) c.5502A= (p.Ile1834=) n.5871A= | |
| 13 | g.32340226A>C | CA483439044 | BRCA2 | c.5871A>C (p.Ile1957=) c.5502A>C (p.Ile1834=) n.5871A>C | ClinVar dbSNP |
| 13 | g.32340226A>G | CA387787436 | BRCA2 | c.5871A>G (p.Ile1957Met) c.5502A>G (p.Ile1834Met) n.5871A>G | ClinVar dbSNP |
| 13 | g.32340226A>T | CA483439045 | BRCA2 | c.5871A>T (p.Ile1957=) c.5502A>T (p.Ile1834=) n.5871A>T | ClinVar dbSNP |
| 13 | g.32340227T>A | CA387787437 | BRCA2 | c.5872T>A (p.Cys1958Ser) c.5503T>A (p.Cys1835Ser) n.5872T>A | dbSNP |
| 13 | g.32340227T>C | CA387787438 | BRCA2 | c.5872T>C (p.Cys1958Arg) c.5503T>C (p.Cys1835Arg) n.5872T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340227T>G | CA387787439 | BRCA2 | c.5872T>G (p.Cys1958Gly) c.5503T>G (p.Cys1835Gly) n.5872T>G | |
| 13 | g.32340227T= | CA2082828357 | BRCA2 | c.5872T= (p.Cys1958=) c.5503T= (p.Cys1835=) n.5872T= | |
| 13 | g.32340228G>A | CA387787440 | BRCA2 | c.5873G>A (p.Cys1958Tyr) c.5504G>A (p.Cys1835Tyr) n.5873G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340228G>C | CA387787441 | BRCA2 | c.5873G>C (p.Cys1958Ser) c.5504G>C (p.Cys1835Ser) n.5873G>C | dbSNP |
| 13 | g.32340228G= | CA2082828361 | BRCA2 | c.5873G= (p.Cys1958=) c.5504G= (p.Cys1835=) n.5873G= | |
| 13 | g.32340228G>T | CA387787442 | BRCA2 | c.5873G>T (p.Cys1958Phe) c.5504G>T (p.Cys1835Phe) n.5873G>T | dbSNP |
| 13 | g.32340229T>A | CA387787443 | BRCA2 | c.5874T>A (p.Cys1958Ter) c.5505T>A (p.Cys1835Ter) n.5874T>A | ClinVar |
| 13 | g.32340229T>C | CA483439046 | BRCA2 | c.5874T>C (p.Cys1958=) c.5505T>C (p.Cys1835=) n.5874T>C | |
| 13 | g.32340229T>G | CA387787444 | BRCA2 | c.5874T>G (p.Cys1958Trp) c.5505T>G (p.Cys1835Trp) n.5874T>G | ClinVar dbSNP |
| 13 | g.32340229T= | CA2082828371 | BRCA2 | c.5874T= (p.Cys1958=) c.5505T= (p.Cys1835=) n.5874T= | |
| 13 | g.32340229_32340231delinsTAA | CA2082828374 | BRCA2 | c.5874_5876delinsTAA (p.Cys1958=) c.5505_5507delinsTAA (p.Cys1835=) n.5874_5876delinsTAA | |
| 13 | g.32340230A>C | CA387787445 | BRCA2 | c.5875A>C (p.Lys1959Gln) c.5506A>C (p.Lys1836Gln) n.5875A>C | |
| 13 | g.32340230A>G | CA387787446 | BRCA2 | c.5875A>G (p.Lys1959Glu) c.5506A>G (p.Lys1836Glu) n.5875A>G | dbSNP |
| 13 | g.32340230A>T | CA387787447 | BRCA2 | c.5875A>T (p.Lys1959Ter) c.5506A>T (p.Lys1836Ter) n.5875A>T | dbSNP |
| 13 | g.32340230_32340231delinsTTT | CA915948498 | BRCA2 | c.5875_5876delinsTTT (p.Lys1959PhefsTer3) c.5506_5507delinsTTT (p.Lys1836PhefsTer3) n.5875_5876delinsTTT | ClinVar dbSNP |
| 13 | g.32340231A>C | CA387787448 | BRCA2 | c.5876A>C (p.Lys1959Thr) c.5507A>C (p.Lys1836Thr) n.5876A>C | ClinVar gnomAD v4 |
| 13 | g.32340231A>G | CA387787450 | BRCA2 | c.5876A>G (p.Lys1959Arg) c.5507A>G (p.Lys1836Arg) n.5876A>G | |
| 13 | g.32340231A>T | CA387787449 | BRCA2 | c.5876A>T (p.Lys1959Ile) c.5507A>T (p.Lys1836Ile) n.5876A>T | dbSNP |
| 13 | g.32340232A>C | CA387787451 | BRCA2 | c.5877A>C (p.Lys1959Asn) c.5508A>C (p.Lys1836Asn) n.5877A>C | dbSNP |
| 13 | g.32340232A>G | CA483439049 | BRCA2 | c.5877A>G (p.Lys1959=) c.5508A>G (p.Lys1836=) n.5877A>G | ClinVar dbSNP |
| 13 | g.32340232A>T | CA387787452 | BRCA2 | c.5877A>T (p.Lys1959Asn) c.5508A>T (p.Lys1836Asn) n.5877A>T | dbSNP |
| 13 | g.32340233T>A | CA387787453 | BRCA2 | c.5878T>A (p.Cys1960Ser) c.5509T>A (p.Cys1837Ser) n.5878T>A | dbSNP |
| 13 | g.32340233T>C | CA387787454 | BRCA2 | c.5878T>C (p.Cys1960Arg) c.5509T>C (p.Cys1837Arg) n.5878T>C | ClinVar dbSNP |
| 13 | g.32340233T>G | CA387787455 | BRCA2 | c.5878T>G (p.Cys1960Gly) c.5509T>G (p.Cys1837Gly) n.5878T>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32340233T= | CA2082828391 | BRCA2 | c.5878T= (p.Cys1960=) c.5509T= (p.Cys1837=) n.5878T= | |
| 13 | g.32340233_32340234delinsTG | CA2082828390 | BRCA2 | c.5878_5879delinsTG (p.Cys1960=) c.5509_5510delinsTG (p.Cys1837=) n.5878_5879delinsTG | |
| 13 | g.32340233_32340236delinsTGTA | CA2082828389 | BRCA2 | c.5878_5881delinsTGTA (p.Cys1960=) c.5509_5512delinsTGTA (p.Cys1837=) n.5878_5881delinsTGTA | |
| 13 | g.32340234_32340238del | CA2695199719 | BRCA2 | c.5879_5883del (p.Cys1960TyrfsTer6) c.5510_5514del (p.Cys1837TyrfsTer6) n.5879_5883del | ClinVar |
| 13 | g.32340233_32340241delinsTGTAGTATA | CA2082828396 | BRCA2 | c.5878_5886delinsTGTAGTATA (p.Cys1960=) c.5509_5517delinsTGTAGTATA (p.Cys1837=) n.5878_5886delinsTGTAGTATA | |
| 13 | g.32340234del | CA658823670 | BRCA2 | c.5879del (p.Cys1960LeufsTer3) c.5510del (p.Cys1837LeufsTer3) n.5879del | ClinVar dbSNP |
| 13 | g.32340234G>A | CA023328 | BRCA2 | c.5879G>A (p.Cys1960Tyr) c.5510G>A (p.Cys1837Tyr) n.5879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340234G>C | CA387787456 | BRCA2 | c.5879G>C (p.Cys1960Ser) c.5510G>C (p.Cys1837Ser) n.5879G>C | dbSNP |
| 13 | g.32340234G= | CA2082828414 | BRCA2 | c.5879G= (p.Cys1960=) c.5510G= (p.Cys1837=) n.5879G= | |
| 13 | g.32340234G>T | CA387787457 | BRCA2 | c.5879G>T (p.Cys1960Phe) c.5510G>T (p.Cys1837Phe) n.5879G>T | dbSNP |
| 13 | g.32340237_32340239dup | CA16619731 | BRCA2 | c.5882_5884dup (p.Ser1961_Ile1962insSer) c.5513_5515dup (p.Ser1838_Ile1839insSer) n.5882_5884dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340237_32340239del | CA16614328 | BRCA2 | c.5882_5884del (p.Ser1961del) c.5513_5515del (p.Ser1838del) n.5882_5884del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340235_32340242del | CA915948499 | BRCA2 | c.5880_5887del (p.Cys1960TrpfsTer5) c.5511_5518del (p.Cys1837TrpfsTer5) n.5880_5887del | ClinVar dbSNP |
| 13 | g.32340235T>A | CA387787458 | BRCA2 | c.5880T>A (p.Cys1960Ter) c.5511T>A (p.Cys1837Ter) n.5880T>A | ClinVar dbSNP |
| 13 | g.32340235T>C | CA023334 | BRCA2 | c.5880T>C (p.Cys1960=) c.5511T>C (p.Cys1837=) n.5880T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340235T>G | CA387787459 | BRCA2 | c.5880T>G (p.Cys1960Trp) c.5511T>G (p.Cys1837Trp) n.5880T>G | dbSNP |
| 13 | g.32340235T= | CA2082828424 | BRCA2 | c.5880T= (p.Cys1960=) c.5511T= (p.Cys1837=) n.5880T= | |
| 13 | g.32340236del | CA2499222215 | BRCA2 | c.5881del (p.Ser1961ValfsTer2) c.5512del (p.Ser1838ValfsTer2) n.5881del | ClinVar dbSNP |
| 13 | g.32340236A>C | CA387787462 | BRCA2 | c.5881A>C (p.Ser1961Arg) c.5512A>C (p.Ser1838Arg) n.5881A>C | |
| 13 | g.32340236A>G | CA387787461 | BRCA2 | c.5881A>G (p.Ser1961Gly) c.5512A>G (p.Ser1838Gly) n.5881A>G | dbSNP COSMIC COSMIC |
| 13 | g.32340236A>T | CA387787460 | BRCA2 | c.5881A>T (p.Ser1961Cys) c.5512A>T (p.Ser1838Cys) n.5881A>T | dbSNP |
| 13 | g.32340237G>A | CA023336 | BRCA2 | c.5882G>A (p.Ser1961Asn) c.5513G>A (p.Ser1838Asn) n.5882G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340237G>C | CA387787463 | BRCA2 | c.5882G>C (p.Ser1961Thr) c.5513G>C (p.Ser1838Thr) n.5882G>C | dbSNP |
| 13 | g.32340237G= | CA2082828437 | BRCA2 | c.5882G= (p.Ser1961=) c.5513G= (p.Ser1838=) n.5882G= | |
| 13 | g.32340237G>T | CA6940907 | BRCA2 | c.5882G>T (p.Ser1961Ile) c.5513G>T (p.Ser1838Ile) n.5882G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340238T>A | CA387787464 | BRCA2 | c.5883T>A (p.Ser1961Arg) c.5514T>A (p.Ser1838Arg) n.5883T>A | dbSNP |
| 13 | g.32340238T>C | CA247511862 | BRCA2 | c.5883T>C (p.Ser1961=) c.5514T>C (p.Ser1838=) n.5883T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340238T>G | CA387787465 | BRCA2 | c.5883T>G (p.Ser1961Arg) c.5514T>G (p.Ser1838Arg) n.5883T>G | dbSNP |
| 13 | g.32340238T= | CA2082828469 | BRCA2 | c.5883T= (p.Ser1961=) c.5514T= (p.Ser1838=) n.5883T= | |
| 13 | g.32340239A= | CA2082828475 | BRCA2 | c.5884A= (p.Ile1962=) c.5515A= (p.Ile1839=) n.5884A= | |
| 13 | g.32340239A>C | CA387787466 | BRCA2 | c.5884A>C (p.Ile1962Leu) c.5515A>C (p.Ile1839Leu) n.5884A>C | |
| 13 | g.32340239A>G | CA6940908 | BRCA2 | c.5884A>G (p.Ile1962Val) c.5515A>G (p.Ile1839Val) n.5884A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340239A>T | CA387787467 | BRCA2 | c.5884A>T (p.Ile1962Leu) c.5515A>T (p.Ile1839Leu) n.5884A>T | dbSNP |
| 13 | g.32340239_32340242del | CA2580087782 | BRCA2 | c.5884_5887del (p.Ile1962GlyfsTer?) c.5515_5518del (p.Ile1839GlyfsTer?) n.5884_5887del | ClinVar |
| 13 | g.32340240T>A | CA387787468 | BRCA2 | c.5885T>A (p.Ile1962Lys) c.5516T>A (p.Ile1839Lys) n.5885T>A | dbSNP |
| 13 | g.32340240T>C | CA16613899 | BRCA2 | c.5885T>C (p.Ile1962Thr) c.5516T>C (p.Ile1839Thr) n.5885T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340240T>G | CA387787469 | BRCA2 | c.5885T>G (p.Ile1962Arg) c.5516T>G (p.Ile1839Arg) n.5885T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340240T= | CA2082828487 | BRCA2 | c.5885T= (p.Ile1962=) c.5516T= (p.Ile1839=) n.5885T= | |
| 13 | g.32340241del | CA645593670 | BRCA2 | c.5886del (p.Ile1962MetfsTer?) c.5517del (p.Ile1839MetfsTer?) n.5886del | COSMIC COSMIC |
| 13 | g.32340241A= | CA2082828501 | BRCA2 | c.5886A= (p.Ile1962=) c.5517A= (p.Ile1839=) n.5886A= | |
| 13 | g.32340241A>C | CA483439051 | BRCA2 | c.5886A>C (p.Ile1962=) c.5517A>C (p.Ile1839=) n.5886A>C | |
| 13 | g.32340241A>G | CA247511881 | BRCA2 | c.5886A>G (p.Ile1962Met) c.5517A>G (p.Ile1839Met) n.5886A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340241A>T | CA483439052 | BRCA2 | c.5886A>T (p.Ile1962=) c.5517A>T (p.Ile1839=) n.5886A>T | ClinVar |
| 13 | g.32340241_32340242delinsAG | CA2082828506 | BRCA2 | c.5886_5887delinsAG (p.Ile1962=) c.5517_5518delinsAG (p.Ile1839=) n.5886_5887delinsAG | |
| 13 | g.32340241_32340242delinsTA | CA2082828520 | BRCA2 | c.5886_5887delinsTA (p.Gly1963Arg) c.5517_5518delinsTA (p.Gly1840Arg) n.5886_5887delinsTA | ClinVar dbSNP |
| 13 | g.32340242G>A | CA387787472 | BRCA2 | c.5887G>A (p.Gly1963Arg) c.5518G>A (p.Gly1840Arg) n.5887G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340242G>C | CA387787471 | BRCA2 | c.5887G>C (p.Gly1963Arg) c.5518G>C (p.Gly1840Arg) n.5887G>C | dbSNP |
| 13 | g.32340242G= | CA2082828527 | BRCA2 | c.5887G= (p.Gly1963=) c.5518G= (p.Gly1840=) n.5887G= | |
| 13 | g.32340242G>T | CA387787470 | BRCA2 | c.5887G>T (p.Gly1963Trp) c.5518G>T (p.Gly1840Trp) n.5887G>T | dbSNP gnomAD v4 |
| 13 | g.32340243G>A | CA10579670 | BRCA2 | c.5888G>A (p.Gly1963Glu) c.5519G>A (p.Gly1840Glu) n.5888G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340243G>C | CA387787474 | BRCA2 | c.5888G>C (p.Gly1963Ala) c.5519G>C (p.Gly1840Ala) n.5888G>C | dbSNP |
| 13 | g.32340243G= | CA2082828532 | BRCA2 | c.5888G= (p.Gly1963=) c.5519G= (p.Gly1840=) n.5888G= | |
| 13 | g.32340243G>T | CA387787473 | BRCA2 | c.5888G>T (p.Gly1963Val) c.5519G>T (p.Gly1840Val) n.5888G>T | dbSNP |
| 13 | g.32340244G>A | CA483439055 | BRCA2 | c.5889G>A (p.Gly1963=) c.5520G>A (p.Gly1840=) n.5889G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340244G>C | CA483439056 | BRCA2 | c.5889G>C (p.Gly1963=) c.5520G>C (p.Gly1840=) n.5889G>C | dbSNP |
| 13 | g.32340244G= | CA2082828538 | BRCA2 | c.5889G= (p.Gly1963=) c.5520G= (p.Gly1840=) n.5889G= | |
| 13 | g.32340244G>T | CA483439054 | BRCA2 | c.5889G>T (p.Gly1963=) c.5520G>T (p.Gly1840=) n.5889G>T | dbSNP |
| 13 | g.32340244_32340245delinsGA | CA2082828534 | BRCA2 | c.5889_5890delinsGA (p.Gly1963=) c.5520_5521delinsGA (p.Gly1840=) n.5889_5890delinsGA | |
| 13 | g.32340245A= | CA2082828546 | BRCA2 | c.5890A= (p.Lys1964=) c.5521A= (p.Lys1841=) n.5890A= | |
| 13 | g.32340245A>C | CA387787475 | BRCA2 | c.5890A>C (p.Lys1964Gln) c.5521A>C (p.Lys1841Gln) n.5890A>C | ClinVar dbSNP |
| 13 | g.32340245A>G | CA387787476 | BRCA2 | c.5890A>G (p.Lys1964Glu) c.5521A>G (p.Lys1841Glu) n.5890A>G | dbSNP |
| 13 | g.32340245A>T | CA387787477 | BRCA2 | c.5890A>T (p.Lys1964Ter) c.5521A>T (p.Lys1841Ter) n.5890A>T | ClinVar dbSNP |
| 13 | g.32340246del | CA023338 | BRCA2 | c.5891del (p.Lys1964SerfsTer?) c.5522del (p.Lys1841SerfsTer?) n.5891del | ClinVar dbSNP |
| 13 | g.32340246A= | CA2082828555 | BRCA2 | c.5891A= (p.Lys1964=) c.5522A= (p.Lys1841=) n.5891A= | |
| 13 | g.32340246A>C | CA387787478 | BRCA2 | c.5891A>C (p.Lys1964Thr) c.5522A>C (p.Lys1841Thr) n.5891A>C | |
| 13 | g.32340246A>G | CA023341 | BRCA2 | c.5891A>G (p.Lys1964Arg) c.5522A>G (p.Lys1841Arg) n.5891A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340246A>T | CA387787479 | BRCA2 | c.5891A>T (p.Lys1964Met) c.5522A>T (p.Lys1841Met) n.5891A>T | ClinVar dbSNP gnomAD v2 |
| 13 | g.32340247G>A | CA16614187 | BRCA2 | c.5892G>A (p.Lys1964=) c.5523G>A (p.Lys1841=) n.5892G>A | ClinVar dbSNP |
| 13 | g.32340247G>C | CA387787480 | BRCA2 | c.5892G>C (p.Lys1964Asn) c.5523G>C (p.Lys1841Asn) n.5892G>C | dbSNP |
| 13 | g.32340247G= | CA2082828561 | BRCA2 | c.5892G= (p.Lys1964=) c.5523G= (p.Lys1841=) n.5892G= | |
| 13 | g.32340247G>T | CA6940909 | BRCA2 | c.5892G>T (p.Lys1964Asn) c.5523G>T (p.Lys1841Asn) n.5892G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340248del | CA645593671 | BRCA2 | c.5893del (p.Leu1965PhefsTer?) c.5524del (p.Leu1842PhefsTer?) n.5893del | COSMIC COSMIC |
| 13 | g.32340248C>A | CA387787481 | BRCA2 | c.5893C>A (p.Leu1965Ile) c.5524C>A (p.Leu1842Ile) n.5893C>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340248C= | CA2082828568 | BRCA2 | c.5893C= (p.Leu1965=) c.5524C= (p.Leu1842=) n.5893C= | |
| 13 | g.32340248C>G | CA387787482 | BRCA2 | c.5893C>G (p.Leu1965Val) c.5524C>G (p.Leu1842Val) n.5893C>G | ClinVar dbSNP |
| 13 | g.32340248C>T | CA023343 | BRCA2 | c.5893C>T (p.Leu1965Phe) c.5524C>T (p.Leu1842Phe) n.5893C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340249T>A | CA387787483 | BRCA2 | c.5894T>A (p.Leu1965His) c.5525T>A (p.Leu1842His) n.5894T>A | dbSNP |
| 13 | g.32340249T>C | CA387787485 | BRCA2 | c.5894T>C (p.Leu1965Pro) c.5525T>C (p.Leu1842Pro) n.5894T>C | dbSNP |
| 13 | g.32340249T>G | CA387787484 | BRCA2 | c.5894T>G (p.Leu1965Arg) c.5525T>G (p.Leu1842Arg) n.5894T>G | gnomAD v4 |
| 13 | g.32340250T>A | CA483439057 | BRCA2 | c.5895T>A (p.Leu1965=) c.5526T>A (p.Leu1842=) n.5895T>A | dbSNP |
| 13 | g.32340250T>C | CA023345 | BRCA2 | c.5895T>C (p.Leu1965=) c.5526T>C (p.Leu1842=) n.5895T>C | ClinVar dbSNP |
| 13 | g.32340250T>G | CA483439058 | BRCA2 | c.5895T>G (p.Leu1965=) c.5526T>G (p.Leu1842=) n.5895T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340250T= | CA2082828674 | BRCA2 | c.5895T= (p.Leu1965=) c.5526T= (p.Leu1842=) n.5895T= | |
| 13 | g.32340251C>A | CA387787486 | BRCA2 | c.5896C>A (p.His1966Asn) c.5527C>A (p.His1843Asn) n.5896C>A | dbSNP |
| 13 | g.32340251C= | CA2082828686 | BRCA2 | c.5896C= (p.His1966=) c.5527C= (p.His1843=) n.5896C= | |
| 13 | g.32340251C>G | CA387787487 | BRCA2 | c.5896C>G (p.His1966Asp) c.5527C>G (p.His1843Asp) n.5896C>G | dbSNP |
| 13 | g.32340251C>T | CA023347 | BRCA2 | c.5896C>T (p.His1966Tyr) c.5527C>T (p.His1843Tyr) n.5896C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340251dup | CA2695217904 | BRCA2 | c.5896dup (p.His1966ProfsTer2) c.5527dup (p.His1843ProfsTer2) n.5896dup | |
| 13 | g.32340252A= | CA2082828706 | BRCA2 | c.5897A= (p.His1966=) c.5528A= (p.His1843=) n.5897A= | |
| 13 | g.32340252A>C | CA387787488 | BRCA2 | c.5897A>C (p.His1966Pro) c.5528A>C (p.His1843Pro) n.5897A>C | ClinVar |
| 13 | g.32340252A>G | CA023349 | BRCA2 | c.5897A>G (p.His1966Arg) c.5528A>G (p.His1843Arg) n.5897A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32340252A>T | CA387787489 | BRCA2 | c.5897A>T (p.His1966Leu) c.5528A>T (p.His1843Leu) n.5897A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340252_32340253delinsAT | CA2082828709 | BRCA2 | c.5897_5898delinsAT (p.His1966=) c.5528_5529delinsAT (p.His1843=) n.5897_5898delinsAT | |
| 13 | g.32340253del | CA023351 | BRCA2 | c.5898del (p.His1966GlnfsTer?) c.5529del (p.His1843GlnfsTer?) n.5898del | ClinVar dbSNP |
| 13 | g.32340253T>A | CA387787490 | BRCA2 | c.5898T>A (p.His1966Gln) c.5529T>A (p.His1843Gln) n.5898T>A | |
| 13 | g.32340253T>C | CA483439059 | BRCA2 | c.5898T>C (p.His1966=) c.5529T>C (p.His1843=) n.5898T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340253T>G | CA387787491 | BRCA2 | c.5898T>G (p.His1966Gln) c.5529T>G (p.His1843Gln) n.5898T>G | |
| 13 | g.32340253T= | CA2082828727 | BRCA2 | c.5898T= (p.His1966=) c.5529T= (p.His1843=) n.5898T= | |
| 13 | g.32340253dup | CA2825002108 | BRCA2 | c.5898dup (p.Lys1967Ter) c.5529dup (p.Lys1844Ter) n.5898dup | ClinVar |
| 13 | g.32340254A= | CA2082828735 | BRCA2 | c.5899A= (p.Lys1967=) c.5530A= (p.Lys1844=) n.5899A= | |
| 13 | g.32340254A>C | CA387787493 | BRCA2 | c.5899A>C (p.Lys1967Gln) c.5530A>C (p.Lys1844Gln) n.5899A>C | |
| 13 | g.32340254A>G | CA387787492 | BRCA2 | c.5899A>G (p.Lys1967Glu) c.5530A>G (p.Lys1844Glu) n.5899A>G | |
| 13 | g.32340254A>T | CA247511916 | BRCA2 | c.5899A>T (p.Lys1967Ter) c.5530A>T (p.Lys1844Ter) n.5899A>T | ClinVar dbSNP |
| 13 | g.32340254_32340258delinsAAGTC | CA2082828733 | BRCA2 | c.5899_5903delinsAAGTC (p.Lys1967=) c.5530_5534delinsAAGTC (p.Lys1844=) n.5899_5903delinsAAGTC | |
| 13 | g.32340254_32340255insG | CA919242588 | BRCA2 | c.5899_5900insG (p.Lys1967ArgfsTer13) c.5530_5531insG (p.Lys1844ArgfsTer13) n.5899_5900insG | dbSNP |
| 13 | g.32340255A= | CA2082828750 | BRCA2 | c.5900A= (p.Lys1967=) c.5531A= (p.Lys1844=) n.5900A= | |
| 13 | g.32340255A>C | CA387787494 | BRCA2 | c.5900A>C (p.Lys1967Thr) c.5531A>C (p.Lys1844Thr) n.5900A>C | |
| 13 | g.32340255A>G | CA16619732 | BRCA2 | c.5900A>G (p.Lys1967Arg) c.5531A>G (p.Lys1844Arg) n.5900A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340255A>T | CA16613988 | BRCA2 | c.5900A>T (p.Lys1967Met) c.5531A>T (p.Lys1844Met) n.5900A>T | ClinVar dbSNP |
| 13 | g.32340259_32340262del | CA023357 | BRCA2 | c.5904_5907del (p.Val1969HisfsTer?) c.5535_5538del (p.Val1846HisfsTer?) n.5904_5907del | ClinVar dbSNP |
| 13 | g.32340256G>A | CA6940910 | BRCA2 | c.5901G>A (p.Lys1967=) c.5532G>A (p.Lys1844=) n.5901G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340256G>C | CA387787495 | BRCA2 | c.5901G>C (p.Lys1967Asn) c.5532G>C (p.Lys1844Asn) n.5901G>C | ClinVar dbSNP |
| 13 | g.32340256G= | CA2082828761 | BRCA2 | c.5901G= (p.Lys1967=) c.5532G= (p.Lys1844=) n.5901G= | |
| 13 | g.32340256G>T | CA387787496 | BRCA2 | c.5901G>T (p.Lys1967Asn) c.5532G>T (p.Lys1844Asn) n.5901G>T | dbSNP |
| 13 | g.32340256dup | CA2499222216 | BRCA2 | c.5901dup (p.Ser1968ValfsTer12) c.5532dup (p.Ser1845ValfsTer12) n.5901dup | |
| 13 | g.32340257T>A | CA387787497 | BRCA2 | c.5902T>A (p.Ser1968Thr) c.5533T>A (p.Ser1845Thr) n.5902T>A | dbSNP |
| 13 | g.32340257T>C | CA387787498 | BRCA2 | c.5902T>C (p.Ser1968Pro) c.5533T>C (p.Ser1845Pro) n.5902T>C | ClinVar dbSNP |
| 13 | g.32340257T>G | CA387787499 | BRCA2 | c.5902T>G (p.Ser1968Ala) c.5533T>G (p.Ser1845Ala) n.5902T>G | dbSNP gnomAD v4 |
| 13 | g.32340257T= | CA2082828767 | BRCA2 | c.5902T= (p.Ser1968=) c.5533T= (p.Ser1845=) n.5902T= | |
| 13 | g.32340258C>A | CA387787500 | BRCA2 | c.5903C>A (p.Ser1968Ter) c.5534C>A (p.Ser1845Ter) n.5903C>A | dbSNP gnomAD v4 |
| 13 | g.32340258C= | CA2082828778 | BRCA2 | c.5903C= (p.Ser1968=) c.5534C= (p.Ser1845=) n.5903C= | |
| 13 | g.32340258C>G | CA387787501 | BRCA2 | c.5903C>G (p.Ser1968Ter) c.5534C>G (p.Ser1845Ter) n.5903C>G | dbSNP |
| 13 | g.32340258C>T | CA023356 | BRCA2 | c.5903C>T (p.Ser1968Leu) c.5534C>T (p.Ser1845Leu) n.5903C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340259A>C | CA483439063 | BRCA2 | c.5904A>C (p.Ser1968=) c.5535A>C (p.Ser1845=) n.5904A>C | |
| 13 | g.32340259A>G | CA483439062 | BRCA2 | c.5904A>G (p.Ser1968=) c.5535A>G (p.Ser1845=) n.5904A>G | |
| 13 | g.32340259A>T | CA483439061 | BRCA2 | c.5904A>T (p.Ser1968=) c.5535A>T (p.Ser1845=) n.5904A>T | |
| 13 | g.32340259dup | CA10589335 | BRCA2 | c.5904dup (p.Val1969SerfsTer11) c.5535dup (p.Val1846SerfsTer11) n.5904dup | ClinVar dbSNP |
| 13 | g.32340260G>A | CA387787504 | BRCA2 | c.5905G>A (p.Val1969Ile) c.5536G>A (p.Val1846Ile) n.5905G>A | ClinVar dbSNP |
| 13 | g.32340260G>C | CA387787502 | BRCA2 | c.5905G>C (p.Val1969Leu) c.5536G>C (p.Val1846Leu) n.5905G>C | ClinVar dbSNP |
| 13 | g.32340260G= | CA2082828790 | BRCA2 | c.5905G= (p.Val1969=) c.5536G= (p.Val1846=) n.5905G= | |
| 13 | g.32340260G>T | CA387787503 | BRCA2 | c.5905G>T (p.Val1969Phe) c.5536G>T (p.Val1846Phe) n.5905G>T | |
| 13 | g.32340261_32340269del | CA2517023400 | BRCA2 | c.5906_5914del (p.Val1969_Ser1971del) c.5537_5545del (p.Val1846_Ser1848del) n.5906_5914del | |
| 13 | g.32340261T>A | CA387787505 | BRCA2 | c.5906T>A (p.Val1969Asp) c.5537T>A (p.Val1846Asp) n.5906T>A | |
| 13 | g.32340261T>C | CA387787506 | BRCA2 | c.5906T>C (p.Val1969Ala) c.5537T>C (p.Val1846Ala) n.5906T>C | |
| 13 | g.32340261T>G | CA387787507 | BRCA2 | c.5906T>G (p.Val1969Gly) c.5537T>G (p.Val1846Gly) n.5906T>G | |
| 13 | g.32340263_32340264del | CA2580614697 | BRCA2 | c.5908_5909del (p.Ser1970IlefsTer9) c.5539_5540del (p.Ser1847IlefsTer9) n.5908_5909del | ClinVar |
| 13 | g.32340262C>A | CA16606793 | BRCA2 | c.5907C>A (p.Val1969=) c.5538C>A (p.Val1846=) n.5907C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340262C= | CA2082828816 | BRCA2 | c.5907C= (p.Val1969=) c.5538C= (p.Val1846=) n.5907C= | |
| 13 | g.32340262C>G | CA023360 | BRCA2 | c.5907C>G (p.Val1969=) c.5538C>G (p.Val1846=) n.5907C>G | ClinVar dbSNP |
| 13 | g.32340262C>T | CA483439065 | BRCA2 | c.5907C>T (p.Val1969=) c.5538C>T (p.Val1846=) n.5907C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340263T>A | CA387787508 | BRCA2 | c.5908T>A (p.Ser1970Thr) c.5539T>A (p.Ser1847Thr) n.5908T>A | dbSNP |
| 13 | g.32340263T>C | CA387787509 | BRCA2 | c.5908T>C (p.Ser1970Pro) c.5539T>C (p.Ser1847Pro) n.5908T>C | dbSNP |
| 13 | g.32340263T>G | CA387787510 | BRCA2 | c.5908T>G (p.Ser1970Ala) c.5539T>G (p.Ser1847Ala) n.5908T>G | |
| 13 | g.32340264C>A | CA023362 | BRCA2 | c.5909C>A (p.Ser1970Ter) c.5540C>A (p.Ser1847Ter) n.5909C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340264C= | CA2082828825 | BRCA2 | c.5909C= (p.Ser1970=) c.5540C= (p.Ser1847=) n.5909C= | |
| 13 | g.32340264C>G | CA387787511 | BRCA2 | c.5909C>G (p.Ser1970Ter) c.5540C>G (p.Ser1847Ter) n.5909C>G | ClinVar dbSNP |
| 13 | g.32340264C>T | CA023364 | BRCA2 | c.5909C>T (p.Ser1970Leu) c.5540C>T (p.Ser1847Leu) n.5909C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340265A= | CA2082828841 | BRCA2 | c.5910A= (p.Ser1970=) c.5541A= (p.Ser1847=) n.5910A= | |
| 13 | g.32340265A>C | CA483439066 | BRCA2 | c.5910A>C (p.Ser1970=) c.5541A>C (p.Ser1847=) n.5910A>C | ClinVar dbSNP |
| 13 | g.32340265A>G | CA10579671 | BRCA2 | c.5910A>G (p.Ser1970=) c.5541A>G (p.Ser1847=) n.5910A>G | ClinVar dbSNP |
| 13 | g.32340265A>T | CA483439067 | BRCA2 | c.5910A>T (p.Ser1970=) c.5541A>T (p.Ser1847=) n.5910A>T | dbSNP |
| 13 | g.32340265dup | CA1139770797 | BRCA2 | c.5910dup (p.Ser1971IlefsTer9) c.5541dup (p.Ser1848IlefsTer9) n.5910dup | |
| 13 | g.32340265_32340266delinsAT | CA2082828859 | BRCA2 | c.5910_5911delinsAT (p.Ser1970=) c.5541_5542delinsAT (p.Ser1847=) n.5910_5911delinsAT | |
| 13 | g.32340266del | CA658653656 | BRCA2 | c.5911del (p.Ser1971LeufsTer?) c.5542del (p.Ser1848LeufsTer?) n.5911del | ClinVar dbSNP |
| 13 | g.32340266T>A | CA387787514 | BRCA2 | c.5911T>A (p.Ser1971Thr) c.5542T>A (p.Ser1848Thr) n.5911T>A | dbSNP |
| 13 | g.32340266T>C | CA387787513 | BRCA2 | c.5911T>C (p.Ser1971Pro) c.5542T>C (p.Ser1848Pro) n.5911T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340266T>G | CA387787512 | BRCA2 | c.5911T>G (p.Ser1971Ala) c.5542T>G (p.Ser1848Ala) n.5911T>G | |
| 13 | g.32340266T= | CA2082828868 | BRCA2 | c.5911T= (p.Ser1971=) c.5542T= (p.Ser1848=) n.5911T= | |
| 13 | g.32340266_32340267delinsTC | CA2082828870 | BRCA2 | c.5911_5912delinsTC (p.Ser1971=) c.5542_5543delinsTC (p.Ser1848=) n.5911_5912delinsTC | |
| 13 | g.32340267del | CA658653657 | BRCA2 | c.5912del (p.Ser1971LeufsTer?) c.5543del (p.Ser1848LeufsTer?) n.5912del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340267C>A | CA387787515 | BRCA2 | c.5912C>A (p.Ser1971Tyr) c.5543C>A (p.Ser1848Tyr) n.5912C>A | dbSNP |
| 13 | g.32340267C= | CA2082828886 | BRCA2 | c.5912C= (p.Ser1971=) c.5543C= (p.Ser1848=) n.5912C= | |
| 13 | g.32340267C>G | CA387787517 | BRCA2 | c.5912C>G (p.Ser1971Cys) c.5543C>G (p.Ser1848Cys) n.5912C>G | ClinVar dbSNP |
| 13 | g.32340267C>T | CA387787516 | BRCA2 | c.5912C>T (p.Ser1971Phe) c.5543C>T (p.Ser1848Phe) n.5912C>T | ClinVar dbSNP |
| 13 | g.32340267_32340268delinsCT | CA2082828881 | BRCA2 | c.5912_5913delinsCT (p.Ser1971=) c.5543_5544delinsCT (p.Ser1848=) n.5912_5913delinsCT | |
| 13 | g.32340268del | CA919242595 | BRCA2 | c.5913del (p.Ala1972GlnfsTer?) c.5544del (p.Ala1849GlnfsTer?) n.5913del | dbSNP |
| 13 | g.32340268T>A | CA483439072 | BRCA2 | c.5913T>A (p.Ser1971=) c.5544T>A (p.Ser1848=) n.5913T>A | dbSNP |
| 13 | g.32340268T>C | CA6940911 | BRCA2 | c.5913T>C (p.Ser1971=) c.5544T>C (p.Ser1848=) n.5913T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340268T>G | CA483439073 | BRCA2 | c.5913T>G (p.Ser1971=) c.5544T>G (p.Ser1848=) n.5913T>G | dbSNP |
| 13 | g.32340268T= | CA2082828901 | BRCA2 | c.5913T= (p.Ser1971=) c.5544T= (p.Ser1848=) n.5913T= | |
| 13 | g.32340269G>A | CA387787518 | BRCA2 | c.5914G>A (p.Ala1972Thr) c.5545G>A (p.Ala1849Thr) n.5914G>A | dbSNP |
| 13 | g.32340269G>C | CA16619733 | BRCA2 | c.5914G>C (p.Ala1972Pro) c.5545G>C (p.Ala1849Pro) n.5914G>C | ClinVar dbSNP |
| 13 | g.32340269G= | CA2082828914 | BRCA2 | c.5914G= (p.Ala1972=) c.5545G= (p.Ala1849=) n.5914G= | |
| 13 | g.32340269G>T | CA387787519 | BRCA2 | c.5914G>T (p.Ala1972Ser) c.5545G>T (p.Ala1849Ser) n.5914G>T | dbSNP |
| 13 | g.32340270C>A | CA387787520 | BRCA2 | c.5915C>A (p.Ala1972Glu) c.5546C>A (p.Ala1849Glu) n.5915C>A | dbSNP |
| 13 | g.32340270C>G | CA387787522 | BRCA2 | c.5915C>G (p.Ala1972Gly) c.5546C>G (p.Ala1849Gly) n.5915C>G | |
| 13 | g.32340270C>T | CA387787521 | BRCA2 | c.5915C>T (p.Ala1972Val) c.5546C>T (p.Ala1849Val) n.5915C>T | ClinVar dbSNP |
| 13 | g.32340270_32340271delinsCA | CA2082828919 | BRCA2 | c.5915_5916delinsCA (p.Ala1972=) c.5546_5547delinsCA (p.Ala1849=) n.5915_5916delinsCA | |
| 13 | g.32340271A= | CA2082828926 | BRCA2 | c.5916A= (p.Ala1972=) c.5547A= (p.Ala1849=) n.5916A= | |
| 13 | g.32340271A>C | CA483439075 | BRCA2 | c.5916A>C (p.Ala1972=) c.5547A>C (p.Ala1849=) n.5916A>C | ClinVar dbSNP |
| 13 | g.32340271A>G | CA483439076 | BRCA2 | c.5916A>G (p.Ala1972=) c.5547A>G (p.Ala1849=) n.5916A>G | dbSNP |
| 13 | g.32340271A>T | CA483439077 | BRCA2 | c.5916A>T (p.Ala1972=) c.5547A>T (p.Ala1849=) n.5916A>T | dbSNP |
| 13 | g.32340273del | CA10589336 | BRCA2 | c.5918del (p.Asn1973IlefsTer?) c.5549del (p.Asn1850IlefsTer?) n.5918del | ClinVar dbSNP |
| 13 | g.32340272A= | CA2082828968 | BRCA2 | c.5917A= (p.Asn1973=) c.5548A= (p.Asn1850=) n.5917A= | |
| 13 | g.32340272A>C | CA387787523 | BRCA2 | c.5917A>C (p.Asn1973His) c.5548A>C (p.Asn1850His) n.5917A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340272A>G | CA387787524 | BRCA2 | c.5917A>G (p.Asn1973Asp) c.5548A>G (p.Asn1850Asp) n.5917A>G | ClinVar dbSNP |
| 13 | g.32340272A>T | CA387787525 | BRCA2 | c.5917A>T (p.Asn1973Tyr) c.5548A>T (p.Asn1850Tyr) n.5917A>T | ClinVar dbSNP |
| 13 | g.32340273A>C | CA387787526 | BRCA2 | c.5918A>C (p.Asn1973Thr) c.5549A>C (p.Asn1850Thr) n.5918A>C | |
| 13 | g.32340273A>G | CA387787527 | BRCA2 | c.5918A>G (p.Asn1973Ser) c.5549A>G (p.Asn1850Ser) n.5918A>G | |
| 13 | g.32340273A>T | CA387787528 | BRCA2 | c.5918A>T (p.Asn1973Ile) c.5549A>T (p.Asn1850Ile) n.5918A>T | ClinVar dbSNP |
| 13 | g.32340273_32340274delinsAT | CA2082828975 | BRCA2 | c.5918_5919delinsAT (p.Asn1973=) c.5549_5550delinsAT (p.Asn1850=) n.5918_5919delinsAT | |
| 13 | g.32340274del | CA10589337 | BRCA2 | c.5919del (p.Asn1973LysfsTer?) c.5550del (p.Asn1850LysfsTer?) n.5919del | ClinVar dbSNP |
| 13 | g.32340274T>A | CA387787529 | BRCA2 | c.5919T>A (p.Asn1973Lys) c.5550T>A (p.Asn1850Lys) n.5919T>A | dbSNP |
| 13 | g.32340274T>C | CA023366 | BRCA2 | c.5919T>C (p.Asn1973=) c.5550T>C (p.Asn1850=) n.5919T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340274T>G | CA387787530 | BRCA2 | c.5919T>G (p.Asn1973Lys) c.5550T>G (p.Asn1850Lys) n.5919T>G | dbSNP |
| 13 | g.32340274T= | CA2082828980 | BRCA2 | c.5919T= (p.Asn1973=) c.5550T= (p.Asn1850=) n.5919T= | |
| 13 | g.32340275A>C | CA387787533 | BRCA2 | c.5920A>C (p.Thr1974Pro) c.5551A>C (p.Thr1851Pro) n.5920A>C | dbSNP |
| 13 | g.32340275A>G | CA387787531 | BRCA2 | c.5920A>G (p.Thr1974Ala) c.5551A>G (p.Thr1851Ala) n.5920A>G | dbSNP |
| 13 | g.32340275A>T | CA387787532 | BRCA2 | c.5920A>T (p.Thr1974Ser) c.5551A>T (p.Thr1851Ser) n.5920A>T | ClinVar dbSNP |
| 13 | g.32340276C>A | CA387787534 | BRCA2 | c.5921C>A (p.Thr1974Asn) c.5552C>A (p.Thr1851Asn) n.5921C>A | dbSNP |
| 13 | g.32340276C= | CA2082828984 | BRCA2 | c.5921C= (p.Thr1974=) c.5552C= (p.Thr1851=) n.5921C= | |
| 13 | g.32340276C>G | CA387787535 | BRCA2 | c.5921C>G (p.Thr1974Ser) c.5552C>G (p.Thr1851Ser) n.5921C>G | ClinVar dbSNP |
| 13 | g.32340276C>T | CA023368 | BRCA2 | c.5921C>T (p.Thr1974Ile) c.5552C>T (p.Thr1851Ile) n.5921C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340276dup | CA913188520 | BRCA2 | c.5921dup (p.Cys1975LeufsTer5) c.5552dup (p.Cys1852LeufsTer5) n.5921dup | ClinVar |
| 13 | g.32340277T>A | CA483439080 | BRCA2 | c.5922T>A (p.Thr1974=) c.5553T>A (p.Thr1851=) n.5922T>A | dbSNP |
| 13 | g.32340277T>C | CA023370 | BRCA2 | c.5922T>C (p.Thr1974=) c.5553T>C (p.Thr1851=) n.5922T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340277T>G | CA483439081 | BRCA2 | c.5922T>G (p.Thr1974=) c.5553T>G (p.Thr1851=) n.5922T>G | |
| 13 | g.32340277T= | CA2082828991 | BRCA2 | c.5922T= (p.Thr1974=) c.5553T= (p.Thr1851=) n.5922T= | |
| 13 | g.32340278T>A | CA387787536 | BRCA2 | c.5923T>A (p.Cys1975Ser) c.5554T>A (p.Cys1852Ser) n.5923T>A | dbSNP |
| 13 | g.32340278T>C | CA387787537 | BRCA2 | c.5923T>C (p.Cys1975Arg) c.5554T>C (p.Cys1852Arg) n.5923T>C | ClinVar dbSNP |
| 13 | g.32340278T>G | CA387787538 | BRCA2 | c.5923T>G (p.Cys1975Gly) c.5554T>G (p.Cys1852Gly) n.5923T>G | dbSNP |
| 13 | g.32340278T= | CA2082828994 | BRCA2 | c.5923T= (p.Cys1975=) c.5554T= (p.Cys1852=) n.5923T= | |
| 13 | g.32340279G>A | CA387787539 | BRCA2 | c.5924G>A (p.Cys1975Tyr) c.5555G>A (p.Cys1852Tyr) n.5924G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340279G>C | CA6940912 | BRCA2 | c.5924G>C (p.Cys1975Ser) c.5555G>C (p.Cys1852Ser) n.5924G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340279G= | CA2082829006 | BRCA2 | c.5924G= (p.Cys1975=) c.5555G= (p.Cys1852=) n.5924G= | |
| 13 | g.32340279G>T | CA387787540 | BRCA2 | c.5924G>T (p.Cys1975Phe) c.5555G>T (p.Cys1852Phe) n.5924G>T | dbSNP |
| 13 | g.32340279dup | CA919242598 | BRCA2 | c.5924dup (p.Cys1975TrpfsTer5) c.5555dup (p.Cys1852TrpfsTer5) n.5924dup | dbSNP |
| 13 | g.32340279_32340280delinsGT | CA2082829017 | BRCA2 | c.5924_5925delinsGT (p.Cys1975=) c.5555_5556delinsGT (p.Cys1852=) n.5924_5925delinsGT | |
| 13 | g.32340280del | CA658683862 | BRCA2 | c.5925del (p.Cys1975TrpfsTer29) c.5556del (p.Cys1852TrpfsTer29) n.5925del | ClinVar dbSNP |
| 13 | g.32340280T>A | CA023372 | BRCA2 | c.5925T>A (p.Cys1975Ter) c.5556T>A (p.Cys1852Ter) n.5925T>A | ClinVar dbSNP |
| 13 | g.32340280T>C | CA6940913 | BRCA2 | c.5925T>C (p.Cys1975=) c.5556T>C (p.Cys1852=) n.5925T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340280T>G | CA023374 | BRCA2 | c.5925T>G (p.Cys1975Trp) c.5556T>G (p.Cys1852Trp) n.5925T>G | ClinVar dbSNP |
| 13 | g.32340280T= | CA2082829039 | BRCA2 | c.5925T= (p.Cys1975=) c.5556T= (p.Cys1852=) n.5925T= | |
| 13 | g.32340280_32340281delinsTG | CA2082829028 | BRCA2 | c.5925_5926delinsTG (p.Cys1975=) c.5556_5557delinsTG (p.Cys1852=) n.5925_5926delinsTG | |
| 13 | g.32340281G>A | CA023376 | BRCA2 | c.5926G>A (p.Gly1976Arg) c.5557G>A (p.Gly1853Arg) n.5926G>A | ClinVar dbSNP |
| 13 | g.32340281G>C | CA387787541 | BRCA2 | c.5926G>C (p.Gly1976Arg) c.5557G>C (p.Gly1853Arg) n.5926G>C | dbSNP |
| 13 | g.32340281G= | CA2082829054 | BRCA2 | c.5926G= (p.Gly1976=) c.5557G= (p.Gly1853=) n.5926G= | |
| 13 | g.32340281G>T | CA387787542 | BRCA2 | c.5926G>T (p.Gly1976Trp) c.5557G>T (p.Gly1853Trp) n.5926G>T | dbSNP |
| 13 | g.32340283del | CA915948500 | BRCA2 | c.5928del (p.Ile1977PhefsTer27) c.5559del (p.Ile1854PhefsTer27) n.5928del | ClinVar dbSNP |
| 13 | g.32340282G>A | CA6940914 | BRCA2 | c.5927G>A (p.Gly1976Glu) c.5558G>A (p.Gly1853Glu) n.5927G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340282G>C | CA387787543 | BRCA2 | c.5927G>C (p.Gly1976Ala) c.5558G>C (p.Gly1853Ala) n.5927G>C | dbSNP |
| 13 | g.32340282G= | CA2082829060 | BRCA2 | c.5927G= (p.Gly1976=) c.5558G= (p.Gly1853=) n.5927G= | |
| 13 | g.32340282G>T | CA023378 | BRCA2 | c.5927G>T (p.Gly1976Val) c.5558G>T (p.Gly1853Val) n.5927G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340283G>A | CA483439086 | BRCA2 | c.5928G>A (p.Gly1976=) c.5559G>A (p.Gly1853=) n.5928G>A | dbSNP |
| 13 | g.32340283G>C | CA483439087 | BRCA2 | c.5928G>C (p.Gly1976=) c.5559G>C (p.Gly1853=) n.5928G>C | dbSNP |
| 13 | g.32340283G= | CA2082829071 | BRCA2 | c.5928G= (p.Gly1976=) c.5559G= (p.Gly1853=) n.5928G= | |
| 13 | g.32340283G>T | CA023380 | BRCA2 | c.5928G>T (p.Gly1976=) c.5559G>T (p.Gly1853=) n.5928G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340284A= | CA2082829090 | BRCA2 | c.5929A= (p.Ile1977=) c.5560A= (p.Ile1854=) n.5929A= | |
| 13 | g.32340284A>C | CA387787544 | BRCA2 | c.5929A>C (p.Ile1977Leu) c.5560A>C (p.Ile1854Leu) n.5929A>C | |
| 13 | g.32340284A>G | CA387787545 | BRCA2 | c.5929A>G (p.Ile1977Val) c.5560A>G (p.Ile1854Val) n.5929A>G | ClinVar dbSNP |
| 13 | g.32340284A>T | CA387787546 | BRCA2 | c.5929A>T (p.Ile1977Phe) c.5560A>T (p.Ile1854Phe) n.5929A>T | gnomAD v4 |
| 13 | g.32340284_32340285delinsAT | CA2082829089 | BRCA2 | c.5929_5930delinsAT (p.Ile1977=) c.5560_5561delinsAT (p.Ile1854=) n.5929_5930delinsAT | |
| 13 | g.32340285T>A | CA387787547 | BRCA2 | c.5930T>A (p.Ile1977Asn) c.5561T>A (p.Ile1854Asn) n.5930T>A | ClinVar dbSNP |
| 13 | g.32340285T>C | CA387787548 | BRCA2 | c.5930T>C (p.Ile1977Thr) c.5561T>C (p.Ile1854Thr) n.5930T>C | |
| 13 | g.32340285T>G | CA387787549 | BRCA2 | c.5930T>G (p.Ile1977Ser) c.5561T>G (p.Ile1854Ser) n.5930T>G | dbSNP |
| 13 | g.32340285T= | CA2082829110 | BRCA2 | c.5930T= (p.Ile1977=) c.5561T= (p.Ile1854=) n.5930T= | |
| 13 | g.32340289dup | CA023382 | BRCA2 | c.5934dup (p.Ser1979Ter) c.5565dup (p.Ser1856Ter) n.5934dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340289del | CA2082829107 | BRCA2 | c.5934del (p.Phe1978LeufsTer26) c.5565del (p.Phe1855LeufsTer26) n.5934del | ClinVar dbSNP |
| 13 | g.32340286T>A | CA483439089 | BRCA2 | c.5931T>A (p.Ile1977=) c.5562T>A (p.Ile1854=) n.5931T>A | dbSNP |
| 13 | g.32340286T>C | CA483439090 | BRCA2 | c.5931T>C (p.Ile1977=) c.5562T>C (p.Ile1854=) n.5931T>C | |
| 13 | g.32340286T>G | CA387787550 | BRCA2 | c.5931T>G (p.Ile1977Met) c.5562T>G (p.Ile1854Met) n.5931T>G | |
| 13 | g.32340287T>A | CA387787551 | BRCA2 | c.5932T>A (p.Phe1978Ile) c.5563T>A (p.Phe1855Ile) n.5932T>A | |
| 13 | g.32340287T>C | CA387787552 | BRCA2 | c.5932T>C (p.Phe1978Leu) c.5563T>C (p.Phe1855Leu) n.5932T>C | |
| 13 | g.32340287T>G | CA348922 | BRCA2 | c.5932T>G (p.Phe1978Val) c.5563T>G (p.Phe1855Val) n.5932T>G | ClinVar dbSNP |
| 13 | g.32340287T= | CA2082829121 | BRCA2 | c.5932T= (p.Phe1978=) c.5563T= (p.Phe1855=) n.5932T= | |
| 13 | g.32340288T>A | CA387787553 | BRCA2 | c.5933T>A (p.Phe1978Tyr) c.5564T>A (p.Phe1855Tyr) n.5933T>A | dbSNP |
| 13 | g.32340288T>C | CA387787554 | BRCA2 | c.5933T>C (p.Phe1978Ser) c.5564T>C (p.Phe1855Ser) n.5933T>C | ClinVar |
| 13 | g.32340288T>G | CA387787555 | BRCA2 | c.5933T>G (p.Phe1978Cys) c.5564T>G (p.Phe1855Cys) n.5933T>G | |
| 13 | g.32340289T>A | CA387787556 | BRCA2 | c.5934T>A (p.Phe1978Leu) c.5565T>A (p.Phe1855Leu) n.5934T>A | dbSNP |
| 13 | g.32340289T>C | CA023384 | BRCA2 | c.5934T>C (p.Phe1978=) c.5565T>C (p.Phe1855=) n.5934T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340289T>G | CA387787557 | BRCA2 | c.5934T>G (p.Phe1978Leu) c.5565T>G (p.Phe1855Leu) n.5934T>G | |
| 13 | g.32340289T= | CA2082829132 | BRCA2 | c.5934T= (p.Phe1978=) c.5565T= (p.Phe1855=) n.5934T= | |
| 13 | g.32340290A= | CA2082829138 | BRCA2 | c.5935A= (p.Ser1979=) c.5566A= (p.Ser1856=) n.5935A= | |
| 13 | g.32340290A>C | CA387787558 | BRCA2 | c.5935A>C (p.Ser1979Arg) c.5566A>C (p.Ser1856Arg) n.5935A>C | |
| 13 | g.32340290A>G | CA387787559 | BRCA2 | c.5935A>G (p.Ser1979Gly) c.5566A>G (p.Ser1856Gly) n.5935A>G | ClinVar dbSNP |
| 13 | g.32340290A>T | CA387787560 | BRCA2 | c.5935A>T (p.Ser1979Cys) c.5566A>T (p.Ser1856Cys) n.5935A>T | dbSNP |
| 13 | g.32340290dup | CA2499222217 | BRCA2 | c.5935dup (p.Ser1979LysfsTer24) c.5566dup (p.Ser1856LysfsTer24) n.5935dup | |
| 13 | g.32340294_32340298del | CA1139768341 | BRCA2 | c.5939_5943del (p.Thr1980LysfsTer21) c.5570_5574del (p.Thr1857LysfsTer21) n.5939_5943del | |
| 13 | g.32340290_32340291insT | CA10586545 | BRCA2 | c.5935_5936insT (p.Ser1979MetfsTer24) c.5566_5567insT (p.Ser1856MetfsTer24) n.5935_5936insT | ClinVar dbSNP |
| 13 | g.32340291G>A | CA501053 | BRCA2 | c.5936G>A (p.Ser1979Asn) c.5567G>A (p.Ser1856Asn) n.5936G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340291G>C | CA387787562 | BRCA2 | c.5936G>C (p.Ser1979Thr) c.5567G>C (p.Ser1856Thr) n.5936G>C | dbSNP |
| 13 | g.32340291G= | CA2082829150 | BRCA2 | c.5936G= (p.Ser1979=) c.5567G= (p.Ser1856=) n.5936G= | |
| 13 | g.32340291G>T | CA387787561 | BRCA2 | c.5936G>T (p.Ser1979Ile) c.5567G>T (p.Ser1856Ile) n.5936G>T | dbSNP |
| 13 | g.32340292C>A | CA387787563 | BRCA2 | c.5937C>A (p.Ser1979Arg) c.5568C>A (p.Ser1856Arg) n.5937C>A | dbSNP |
| 13 | g.32340292C= | CA2082829160 | BRCA2 | c.5937C= (p.Ser1979=) c.5568C= (p.Ser1856=) n.5937C= | |
| 13 | g.32340292C>G | CA023388 | BRCA2 | c.5937C>G (p.Ser1979Arg) c.5568C>G (p.Ser1856Arg) n.5937C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340292C>T | CA483438914 | BRCA2 | c.5937C>T (p.Ser1979=) c.5568C>T (p.Ser1856=) n.5937C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340292_32340293delinsCA | CA2082829162 | BRCA2 | c.5937_5938delinsCA (p.Ser1979=) c.5568_5569delinsCA (p.Ser1856=) n.5937_5938delinsCA | |
| 13 | g.32340293del | CA919242601 | BRCA2 | c.5938del (p.Thr1980GlnfsTer24) c.5569del (p.Thr1857GlnfsTer24) n.5938del | dbSNP |
| 13 | g.32340293A= | CA2082829174 | BRCA2 | c.5938A= (p.Thr1980=) c.5569A= (p.Thr1857=) n.5938A= | |
| 13 | g.32340293A>C | CA6940915 | BRCA2 | c.5938A>C (p.Thr1980Pro) c.5569A>C (p.Thr1857Pro) n.5938A>C | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.32340293A>G | CA387787564 | BRCA2 | c.5938A>G (p.Thr1980Ala) c.5569A>G (p.Thr1857Ala) n.5938A>G | dbSNP |
| 13 | g.32340293A>T | CA387787565 | BRCA2 | c.5938A>T (p.Thr1980Ser) c.5569A>T (p.Thr1857Ser) n.5938A>T | dbSNP |
| 13 | g.32340294C>A | CA387787566 | BRCA2 | c.5939C>A (p.Thr1980Lys) c.5570C>A (p.Thr1857Lys) n.5939C>A | dbSNP |
| 13 | g.32340294C= | CA2082829183 | BRCA2 | c.5939C= (p.Thr1980=) c.5570C= (p.Thr1857=) n.5939C= | |
| 13 | g.32340294C>G | CA387787567 | BRCA2 | c.5939C>G (p.Thr1980Arg) c.5570C>G (p.Thr1857Arg) n.5939C>G | dbSNP |
| 13 | g.32340294C>T | CA023390 | BRCA2 | c.5939C>T (p.Thr1980Ile) c.5570C>T (p.Thr1857Ile) n.5939C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340295A>C | CA483438916 | BRCA2 | c.5940A>C (p.Thr1980=) c.5571A>C (p.Thr1857=) n.5940A>C | |
| 13 | g.32340295A>G | CA483438917 | BRCA2 | c.5940A>G (p.Thr1980=) c.5571A>G (p.Thr1857=) n.5940A>G | dbSNP |
| 13 | g.32340295A>T | CA483438918 | BRCA2 | c.5940A>T (p.Thr1980=) c.5571A>T (p.Thr1857=) n.5940A>T | |
| 13 | g.32340296G>A | CA387787568 | BRCA2 | c.5941G>A (p.Ala1981Thr) c.5572G>A (p.Ala1858Thr) n.5941G>A | ClinVar dbSNP |
| 13 | g.32340296G>C | CA387787569 | BRCA2 | c.5941G>C (p.Ala1981Pro) c.5572G>C (p.Ala1858Pro) n.5941G>C | ClinVar dbSNP |
| 13 | g.32340296G>T | CA387787570 | BRCA2 | c.5941G>T (p.Ala1981Ser) c.5572G>T (p.Ala1858Ser) n.5941G>T | dbSNP COSMIC COSMIC |
| 13 | g.32340297C>A | CA387787571 | BRCA2 | c.5942C>A (p.Ala1981Glu) c.5573C>A (p.Ala1858Glu) n.5942C>A | dbSNP gnomAD v4 |
| 13 | g.32340297C= | CA2082829188 | BRCA2 | c.5942C= (p.Ala1981=) c.5573C= (p.Ala1858=) n.5942C= | |
| 13 | g.32340297C>G | CA387787572 | BRCA2 | c.5942C>G (p.Ala1981Gly) c.5573C>G (p.Ala1858Gly) n.5942C>G | ClinVar dbSNP |
| 13 | g.32340297C>T | CA387787573 | BRCA2 | c.5942C>T (p.Ala1981Val) c.5573C>T (p.Ala1858Val) n.5942C>T | dbSNP |
| 13 | g.32340297dup | CA2622599266 | BRCA2 | c.5942dup (p.Ser1982LysfsTer21) c.5573dup (p.Ser1859LysfsTer21) n.5942dup | gnomAD v4 |
| 13 | g.32340297_32340298delinsCA | CA2082829190 | BRCA2 | c.5942_5943delinsCA (p.Ala1981=) c.5573_5574delinsCA (p.Ala1858=) n.5942_5943delinsCA | |
| 13 | g.32340298A>C | CA483438922 | BRCA2 | c.5943A>C (p.Ala1981=) c.5574A>C (p.Ala1858=) n.5943A>C | ClinVar dbSNP |
| 13 | g.32340298A>G | CA483438923 | BRCA2 | c.5943A>G (p.Ala1981=) c.5574A>G (p.Ala1858=) n.5943A>G | |
| 13 | g.32340298A>T | CA483438924 | BRCA2 | c.5943A>T (p.Ala1981=) c.5574A>T (p.Ala1858=) n.5943A>T | dbSNP |
| 13 | g.32340299dup | CA915948501 | BRCA2 | c.5944dup (p.Ser1982LysfsTer21) c.5575dup (p.Ser1859LysfsTer21) n.5944dup | ClinVar dbSNP |
| 13 | g.32340299del | CA023392 | BRCA2 | c.5944del (p.Ser1982ValfsTer22) c.5575del (p.Ser1859ValfsTer22) n.5944del | ClinVar dbSNP |
| 13 | g.32340299A= | CA2082829205 | BRCA2 | c.5944A= (p.Ser1982=) c.5575A= (p.Ser1859=) n.5944A= | |
| 13 | g.32340299A>C | CA387787574 | BRCA2 | c.5944A>C (p.Ser1982Arg) c.5575A>C (p.Ser1859Arg) n.5944A>C | |
| 13 | g.32340299A>G | CA387787576 | BRCA2 | c.5944A>G (p.Ser1982Gly) c.5575A>G (p.Ser1859Gly) n.5944A>G | ClinVar dbSNP |
| 13 | g.32340299A>T | CA387787575 | BRCA2 | c.5944A>T (p.Ser1982Cys) c.5575A>T (p.Ser1859Cys) n.5944A>T | dbSNP |
| 13 | g.32340391_32340392insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | CA2580087783 | BRCA2 | c.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys2013Ter) c.5667_5668insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys1890Ter) n.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | ClinVar |
| 13 | g.32340300G>A | CA6940916 | BRCA2 | c.5945G>A (p.Ser1982Asn) c.5576G>A (p.Ser1859Asn) n.5945G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340300G>C | CA023396 | BRCA2 | c.5945G>C (p.Ser1982Thr) c.5576G>C (p.Ser1859Thr) n.5945G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340300G= | CA2082829211 | BRCA2 | c.5945G= (p.Ser1982=) c.5576G= (p.Ser1859=) n.5945G= | |
| 13 | g.32340300G>T | CA387787577 | BRCA2 | c.5945G>T (p.Ser1982Ile) c.5576G>T (p.Ser1859Ile) n.5945G>T | |
| 13 | g.32340300dup | CA023394 | BRCA2 | c.5945dup (p.Ser1982ArgfsTer21) c.5576dup (p.Ser1859ArgfsTer21) n.5945dup | ClinVar dbSNP |
| 13 | g.32340300_32340301delinsGT | CA2082829220 | BRCA2 | c.5945_5946delinsGT (p.Ser1982=) c.5576_5577delinsGT (p.Ser1859=) n.5945_5946delinsGT | |
| 13 | g.32340300_32340304delinsGTGGA | CA2082829217 | BRCA2 | c.5945_5949delinsGTGGA (p.Ser1982=) c.5576_5580delinsGTGGA (p.Ser1859=) n.5945_5949delinsGTGGA | |
| 13 | g.32340300_32340305delinsGTGGAA | CA2082829232 | BRCA2 | c.5945_5950delinsGTGGAA (p.Ser1982=) c.5576_5581delinsGTGGAA (p.Ser1859=) n.5945_5950delinsGTGGAA | |
| 13 | g.32340301del | CA023403 | BRCA2 | c.5946del (p.Ser1982ArgfsTer22) c.5577del (p.Ser1859ArgfsTer22) n.5946del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32340301T>A | CA387787578 | BRCA2 | c.5946T>A (p.Ser1982Arg) c.5577T>A (p.Ser1859Arg) n.5946T>A | |
| 13 | g.32340301T>C | CA483438926 | BRCA2 | c.5946T>C (p.Ser1982=) c.5577T>C (p.Ser1859=) n.5946T>C | ClinVar dbSNP |
| 13 | g.32340301T>G | CA387787579 | BRCA2 | c.5946T>G (p.Ser1982Arg) c.5577T>G (p.Ser1859Arg) n.5946T>G | dbSNP |
| 13 | g.32340301T= | CA2581132429 | BRCA2 | c.5946T= (p.Ser1982=) c.5577T= (p.Ser1859=) n.5946T= | |
| 13 | g.32340301_32340302delinsTG | CA2082829252 | BRCA2 | c.5946_5947delinsTG (p.Ser1982=) c.5577_5578delinsTG (p.Ser1859=) n.5946_5947delinsTG | |
| 13 | g.32340301_32340304del | CA023398 | BRCA2 | c.5946_5949del (p.Ser1982ArgfsTer21) c.5577_5580del (p.Ser1859ArgfsTer21) n.5946_5949del | ClinVar dbSNP |
| 13 | g.32340301_32340305del | CA023400 | BRCA2 | c.5946_5950del (p.Ser1982ArgfsTer19) c.5577_5581del (p.Ser1859ArgfsTer19) n.5946_5950del | ClinVar dbSNP |
| 13 | g.32340302G>A | CA387787581 | BRCA2 | c.5947G>A (p.Gly1983Arg) c.5578G>A (p.Gly1860Arg) n.5947G>A | ClinVar dbSNP |
| 13 | g.32340302G>C | CA387787582 | BRCA2 | c.5947G>C (p.Gly1983Arg) c.5578G>C (p.Gly1860Arg) n.5947G>C | |
| 13 | g.32340302G= | CA2082829267 | BRCA2 | c.5947G= (p.Gly1983=) c.5578G= (p.Gly1860=) n.5947G= | |
| 13 | g.32340302G>T | CA387787580 | BRCA2 | c.5947G>T (p.Gly1983Ter) c.5578G>T (p.Gly1860Ter) n.5947G>T | ClinVar dbSNP |
| 13 | g.32340303del | CA10589338 | BRCA2 | c.5948del (p.Gly1983GlufsTer21) c.5579del (p.Gly1860GlufsTer21) n.5948del | ClinVar dbSNP |
| 13 | g.32340304_32340317del | CA2838032185 | BRCA2 | c.5949_5962del (p.Lys1984IlefsTer14) c.5580_5593del (p.Lys1861IlefsTer14) n.5949_5962del | |
| 13 | g.32340303G>A | CA387787583 | BRCA2 | c.5948G>A (p.Gly1983Glu) c.5579G>A (p.Gly1860Glu) n.5948G>A | dbSNP |
| 13 | g.32340303G>C | CA387787584 | BRCA2 | c.5948G>C (p.Gly1983Ala) c.5579G>C (p.Gly1860Ala) n.5948G>C | dbSNP |
| 13 | g.32340303G>T | CA387787585 | BRCA2 | c.5948G>T (p.Gly1983Val) c.5579G>T (p.Gly1860Val) n.5948G>T | dbSNP |
| 13 | g.32340303_32340305delinsGAA | CA2082829279 | BRCA2 | c.5948_5950delinsGAA (p.Gly1983=) c.5579_5581delinsGAA (p.Gly1860=) n.5948_5950delinsGAA | |
| 13 | g.32340304A= | CA2082829290 | BRCA2 | c.5949A= (p.Gly1983=) c.5580A= (p.Gly1860=) n.5949A= | |
| 13 | g.32340304A>C | CA483438929 | BRCA2 | c.5949A>C (p.Gly1983=) c.5580A>C (p.Gly1860=) n.5949A>C | |
| 13 | g.32340304A>G | CA483438930 | BRCA2 | c.5949A>G (p.Gly1983=) c.5580A>G (p.Gly1860=) n.5949A>G | ClinVar dbSNP |
| 13 | g.32340304A>T | CA483438931 | BRCA2 | c.5949A>T (p.Gly1983=) c.5580A>T (p.Gly1860=) n.5949A>T | dbSNP |
| 13 | g.32340307dup | CA023405 | BRCA2 | c.5952dup (p.Ser1985IlefsTer18) c.5583dup (p.Ser1862IlefsTer18) n.5952dup | ClinVar dbSNP |
| 13 | g.32340307del | CA2739291768 | BRCA2 | c.5952del (p.Lys1984AsnfsTer20) c.5583del (p.Lys1861AsnfsTer20) n.5952del | |
| 13 | g.32340306_32340307del | CA919242604 | BRCA2 | c.5951_5952del (p.Lys1984IlefsTer18) c.5582_5583del (p.Lys1861IlefsTer18) n.5951_5952del | dbSNP |
| 13 | g.32340305A>C | CA387787586 | BRCA2 | c.5950A>C (p.Lys1984Gln) c.5581A>C (p.Lys1861Gln) n.5950A>C | |
| 13 | g.32340305A>G | CA387787587 | BRCA2 | c.5950A>G (p.Lys1984Glu) c.5581A>G (p.Lys1861Glu) n.5950A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340305A>T | CA387787588 | BRCA2 | c.5950A>T (p.Lys1984Ter) c.5581A>T (p.Lys1861Ter) n.5950A>T | dbSNP |
| 13 | g.32340306A= | CA2082808495 | BRCA2 | c.5951A= (p.Lys1984=) c.5582A= (p.Lys1861=) n.5951A= | |
| 13 | g.32340306A>C | CA387787589 | BRCA2 | c.5951A>C (p.Lys1984Thr) c.5582A>C (p.Lys1861Thr) n.5951A>C | |
| 13 | g.32340306A>G | CA6940917 | BRCA2 | c.5951A>G (p.Lys1984Arg) c.5582A>G (p.Lys1861Arg) n.5951A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340306A>T | CA387787590 | BRCA2 | c.5951A>T (p.Lys1984Ile) c.5582A>T (p.Lys1861Ile) n.5951A>T | dbSNP |
| 13 | g.32340307A= | CA2082808510 | BRCA2 | c.5952A= (p.Lys1984=) c.5583A= (p.Lys1861=) n.5952A= | |
| 13 | g.32340307A>C | CA387787591 | BRCA2 | c.5952A>C (p.Lys1984Asn) c.5583A>C (p.Lys1861Asn) n.5952A>C | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340307A>G | CA023407 | BRCA2 | c.5952A>G (p.Lys1984=) c.5583A>G (p.Lys1861=) n.5952A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340307A>T | CA387787592 | BRCA2 | c.5952A>T (p.Lys1984Asn) c.5583A>T (p.Lys1861Asn) n.5952A>T | dbSNP |
| 13 | g.32340307_32340309delinsATC | CA2082808505 | BRCA2 | c.5952_5954delinsATC (p.Lys1984=) c.5583_5585delinsATC (p.Lys1861=) n.5952_5954delinsATC | |
| 13 | g.32340308T>A | CA387787595 | BRCA2 | c.5953T>A (p.Ser1985Thr) c.5584T>A (p.Ser1862Thr) n.5953T>A | dbSNP |
| 13 | g.32340308T>C | CA387787593 | BRCA2 | c.5953T>C (p.Ser1985Pro) c.5584T>C (p.Ser1862Pro) n.5953T>C | |
| 13 | g.32340308T>G | CA387787594 | BRCA2 | c.5953T>G (p.Ser1985Ala) c.5584T>G (p.Ser1862Ala) n.5953T>G | dbSNP |
| 13 | g.32340309_32340310del | CA023409 | BRCA2 | c.5954_5955del (p.Ser1985CysfsTer17) c.5585_5586del (p.Ser1862CysfsTer17) n.5954_5955del | ClinVar dbSNP |
| 13 | g.32340309C>A | CA387787596 | BRCA2 | c.5954C>A (p.Ser1985Tyr) c.5585C>A (p.Ser1862Tyr) n.5954C>A | ClinVar dbSNP |
| 13 | g.32340309C= | CA2082808534 | BRCA2 | c.5954C= (p.Ser1985=) c.5585C= (p.Ser1862=) n.5954C= | |
| 13 | g.32340309C>G | CA387787597 | BRCA2 | c.5954C>G (p.Ser1985Cys) c.5585C>G (p.Ser1862Cys) n.5954C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340309C>T | CA387787598 | BRCA2 | c.5954C>T (p.Ser1985Phe) c.5585C>T (p.Ser1862Phe) n.5954C>T | dbSNP |
| 13 | g.32340310_32340314del | CA2825002109 | BRCA2 | c.5955_5959del (p.Val1986GlyfsTer15) c.5586_5590del (p.Val1863GlyfsTer15) n.5955_5959del | ClinVar |
| 13 | g.32340310T>A | CA483438935 | BRCA2 | c.5955T>A (p.Ser1985=) c.5586T>A (p.Ser1862=) n.5955T>A | dbSNP |
| 13 | g.32340310T>C | CA483438933 | BRCA2 | c.5955T>C (p.Ser1985=) c.5586T>C (p.Ser1862=) n.5955T>C | ClinVar dbSNP |
| 13 | g.32340310T>G | CA483438934 | BRCA2 | c.5955T>G (p.Ser1985=) c.5586T>G (p.Ser1862=) n.5955T>G | |
| 13 | g.32340311G>A | CA387787599 | BRCA2 | c.5956G>A (p.Val1986Ile) c.5587G>A (p.Val1863Ile) n.5956G>A | ClinVar dbSNP |
| 13 | g.32340311G>C | CA387787600 | BRCA2 | c.5956G>C (p.Val1986Leu) c.5587G>C (p.Val1863Leu) n.5956G>C | dbSNP |
| 13 | g.32340311G>T | CA387787601 | BRCA2 | c.5956G>T (p.Val1986Phe) c.5587G>T (p.Val1863Phe) n.5956G>T | |
| 13 | g.32340312T>A | CA387787602 | BRCA2 | c.5957T>A (p.Val1986Asp) c.5588T>A (p.Val1863Asp) n.5957T>A | |
| 13 | g.32340312T>C | CA387787603 | BRCA2 | c.5957T>C (p.Val1986Ala) c.5588T>C (p.Val1863Ala) n.5957T>C | |
| 13 | g.32340312T>G | CA387787604 | BRCA2 | c.5957T>G (p.Val1986Gly) c.5588T>G (p.Val1863Gly) n.5957T>G | |
| 13 | g.32340313C>A | CA483438936 | BRCA2 | c.5958C>A (p.Val1986=) c.5589C>A (p.Val1863=) n.5958C>A | dbSNP |
| 13 | g.32340313C= | CA2082808550 | BRCA2 | c.5958C= (p.Val1986=) c.5589C= (p.Val1863=) n.5958C= | |
| 13 | g.32340313C>G | CA483438937 | BRCA2 | c.5958C>G (p.Val1986=) c.5589C>G (p.Val1863=) n.5958C>G | ClinVar dbSNP |
| 13 | g.32340313C>T | CA6940918 | BRCA2 | c.5958C>T (p.Val1986=) c.5589C>T (p.Val1863=) n.5958C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32340314C>A | CA387787605 | BRCA2 | c.5959C>A (p.Gln1987Lys) c.5590C>A (p.Gln1864Lys) n.5959C>A | dbSNP |
| 13 | g.32340314C= | CA2082808561 | BRCA2 | c.5959C= (p.Gln1987=) c.5590C= (p.Gln1864=) n.5959C= | |
| 13 | g.32340314C>G | CA387787606 | BRCA2 | c.5959C>G (p.Gln1987Glu) c.5590C>G (p.Gln1864Glu) n.5959C>G | dbSNP COSMIC COSMIC |
| 13 | g.32340314C>T | CA023417 | BRCA2 | c.5959C>T (p.Gln1987Ter) c.5590C>T (p.Gln1864Ter) n.5959C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340315del | CA2695217905 | BRCA2 | c.5960del (p.Gln1987ArgfsTer17) c.5591del (p.Gln1864ArgfsTer17) n.5960del | ClinVar |
| 13 | g.32340315A= | CA2082808576 | BRCA2 | c.5960A= (p.Gln1987=) c.5591A= (p.Gln1864=) n.5960A= | |
| 13 | g.32340315A>C | CA387787608 | BRCA2 | c.5960A>C (p.Gln1987Pro) c.5591A>C (p.Gln1864Pro) n.5960A>C | ClinVar |
| 13 | g.32340315A>G | CA387787607 | BRCA2 | c.5960A>G (p.Gln1987Arg) c.5591A>G (p.Gln1864Arg) n.5960A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340315A>T | CA387787609 | BRCA2 | c.5960A>T (p.Gln1987Leu) c.5591A>T (p.Gln1864Leu) n.5960A>T | dbSNP |
| 13 | g.32340315_32340316delinsAG | CA2082808574 | BRCA2 | c.5960_5961delinsAG (p.Gln1987=) c.5591_5592delinsAG (p.Gln1864=) n.5960_5961delinsAG | |
| 13 | g.32340316G>A | CA483438938 | BRCA2 | c.5961G>A (p.Gln1987=) c.5592G>A (p.Gln1864=) n.5961G>A | ClinVar dbSNP |
| 13 | g.32340316G>C | CA387787610 | BRCA2 | c.5961G>C (p.Gln1987His) c.5592G>C (p.Gln1864His) n.5961G>C | ClinVar dbSNP |
| 13 | g.32340316G= | CA2082808610 | BRCA2 | c.5961G= (p.Gln1987=) c.5592G= (p.Gln1864=) n.5961G= | |
| 13 | g.32340316G>T | CA023423 | BRCA2 | c.5961G>T (p.Gln1987His) c.5592G>T (p.Gln1864His) n.5961G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340317dup | CA658683863 | BRCA2 | c.5962dup (p.Val1988GlyfsTer15) c.5593dup (p.Val1865GlyfsTer15) n.5962dup | ClinVar dbSNP |
| 13 | g.32340317del | CA10577479 | BRCA2 | c.5962del (p.Val1988TyrfsTer16) c.5593del (p.Val1865TyrfsTer16) n.5962del | ClinVar dbSNP |
| 13 | g.32340317G>A | CA023425 | BRCA2 | c.5962G>A (p.Val1988Ile) c.5593G>A (p.Val1865Ile) n.5962G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32340317G>C | CA387787611 | BRCA2 | c.5962G>C (p.Val1988Leu) c.5593G>C (p.Val1865Leu) n.5962G>C | dbSNP |
| 13 | g.32340317G= | CA2082808617 | BRCA2 | c.5962G= (p.Val1988=) c.5593G= (p.Val1865=) n.5962G= | |
| 13 | g.32340317G>T | CA387787612 | BRCA2 | c.5962G>T (p.Val1988Leu) c.5593G>T (p.Val1865Leu) n.5962G>T | ClinVar dbSNP |
| 13 | g.32340317_32340319delinsGTA | CA2082808616 | BRCA2 | c.5962_5964delinsGTA (p.Val1988=) c.5593_5595delinsGTA (p.Val1865=) n.5962_5964delinsGTA | |
| 13 | g.32340318T>A | CA387787613 | BRCA2 | c.5963T>A (p.Val1988Glu) c.5594T>A (p.Val1865Glu) n.5963T>A | dbSNP |
| 13 | g.32340318T>C | CA387787614 | BRCA2 | c.5963T>C (p.Val1988Ala) c.5594T>C (p.Val1865Ala) n.5963T>C | dbSNP gnomAD v4 |
| 13 | g.32340318T>G | CA387787615 | BRCA2 | c.5963T>G (p.Val1988Gly) c.5594T>G (p.Val1865Gly) n.5963T>G | dbSNP |
| 13 | g.32340318dup | CA1139663229 | BRCA2 | c.5963dup (p.Ser1989IlefsTer14) c.5594dup (p.Ser1866IlefsTer14) n.5963dup | ClinVar dbSNP |
| 13 | g.32340319_32340320del | CA023427 | BRCA2 | c.5964_5965del (p.Ser1989ArgfsTer13) c.5595_5596del (p.Ser1866ArgfsTer13) n.5964_5965del | ClinVar dbSNP |
| 13 | g.32340319del | CA1139770766 | BRCA2 | c.5964del (p.Ser1989GlnfsTer15) c.5595del (p.Ser1866GlnfsTer15) n.5964del | |
| 13 | g.32340319A>C | CA483438940 | BRCA2 | c.5964A>C (p.Val1988=) c.5595A>C (p.Val1865=) n.5964A>C | |
| 13 | g.32340319A>G | CA483438939 | BRCA2 | c.5964A>G (p.Val1988=) c.5595A>G (p.Val1865=) n.5964A>G | ClinVar dbSNP |
| 13 | g.32340319A>T | CA483438941 | BRCA2 | c.5964A>T (p.Val1988=) c.5595A>T (p.Val1865=) n.5964A>T | dbSNP |
| 13 | g.32340320T>A | CA387787616 | BRCA2 | c.5965T>A (p.Ser1989Thr) c.5596T>A (p.Ser1866Thr) n.5965T>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340320T>C | CA387787617 | BRCA2 | c.5965T>C (p.Ser1989Pro) c.5596T>C (p.Ser1866Pro) n.5965T>C | |
| 13 | g.32340320T>G | CA387787618 | BRCA2 | c.5965T>G (p.Ser1989Ala) c.5596T>G (p.Ser1866Ala) n.5965T>G | dbSNP |
| 13 | g.32340320T= | CA2082808642 | BRCA2 | c.5965T= (p.Ser1989=) c.5596T= (p.Ser1866=) n.5965T= | |
| 13 | g.32340321C>A | CA10586546 | BRCA2 | c.5966C>A (p.Ser1989Ter) c.5597C>A (p.Ser1866Ter) n.5966C>A | ClinVar dbSNP |
| 13 | g.32340321C= | CA2082808662 | BRCA2 | c.5966C= (p.Ser1989=) c.5597C= (p.Ser1866=) n.5966C= | |
| 13 | g.32340321C>G | CA10589339 | BRCA2 | c.5966C>G (p.Ser1989Ter) c.5597C>G (p.Ser1866Ter) n.5966C>G | ClinVar dbSNP |
| 13 | g.32340321C>T | CA387787619 | BRCA2 | c.5966C>T (p.Ser1989Leu) c.5597C>T (p.Ser1866Leu) n.5966C>T | dbSNP |
| 13 | g.32340321dup | CA10589340 | BRCA2 | c.5966dup (p.Asp1990ArgfsTer13) c.5597dup (p.Asp1867ArgfsTer13) n.5966dup | ClinVar dbSNP |
| 13 | g.32340321_32340323delinsCAG | CA2082808663 | BRCA2 | c.5966_5968delinsCAG (p.Ser1989=) c.5597_5599delinsCAG (p.Ser1866=) n.5966_5968delinsCAG |