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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.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32336825_32336831delinsTTAAATG | CA2082808819 | BRCA2 | c.2470_2476delinsTTAAATG (p.Leu824=) c.2101_2107delinsTTAAATG (p.Leu701=) n.2470_2476delinsTTAAATG | |
| 13 | g.32336826_32336831del | CA015387 | BRCA2 | c.2471_2476del (p.Leu824Ter) c.2102_2107del (p.Leu701Ter) n.2471_2476del | ClinVar dbSNP |
| 13 | g.32336826_32336832delinsTAAATGA | CA2082808840 | BRCA2 | c.2471_2477delinsTAAATGA (p.Leu824=) c.2102_2108delinsTAAATGA (p.Leu701=) n.2471_2477delinsTAAATGA | |
| 13 | g.32336831_32336836del | CA913190902 | BRCA2 | c.2476_2481del (p.Glu826_Asn827del) c.2107_2112del (p.Glu703_Asn704del) n.2476_2481del | ClinVar dbSNP |
| 13 | g.32336830T>A | CA387772370 | BRCA2 | c.2475T>A (p.Asn825Lys) c.2106T>A (p.Asn702Lys) n.2475T>A | dbSNP |
| 13 | g.32336830T>C | CA483437074 | BRCA2 | c.2475T>C (p.Asn825=) c.2106T>C (p.Asn702=) n.2475T>C | ClinVar dbSNP |
| 13 | g.32336830T>G | CA387772371 | BRCA2 | c.2475T>G (p.Asn825Lys) c.2106T>G (p.Asn702Lys) n.2475T>G | ClinVar dbSNP |
| 13 | g.32336830T= | CA2082808883 | BRCA2 | c.2475T= (p.Asn825=) c.2106T= (p.Asn702=) n.2475T= | |
| 13 | g.32336831G>A | CA387772372 | BRCA2 | c.2476G>A (p.Glu826Lys) c.2107G>A (p.Glu703Lys) n.2476G>A | ClinVar dbSNP |
| 13 | g.32336831G>C | CA387772373 | BRCA2 | c.2476G>C (p.Glu826Gln) c.2107G>C (p.Glu703Gln) n.2476G>C | dbSNP |
| 13 | g.32336831G= | CA2082808899 | BRCA2 | c.2476G= (p.Glu826=) c.2107G= (p.Glu703=) n.2476G= | |
| 13 | g.32336831G>T | CA387772374 | BRCA2 | c.2476G>T (p.Glu826Ter) c.2107G>T (p.Glu703Ter) n.2476G>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32336832A= | CA2082808911 | BRCA2 | c.2477A= (p.Glu826=) c.2108A= (p.Glu703=) n.2477A= | |
| 13 | g.32336832A>C | CA387772377 | BRCA2 | c.2477A>C (p.Glu826Ala) c.2108A>C (p.Glu703Ala) n.2477A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336832A>G | CA387772376 | BRCA2 | c.2477A>G (p.Glu826Gly) c.2108A>G (p.Glu703Gly) n.2477A>G | ClinVar dbSNP |
| 13 | g.32336832A>T | CA387772375 | BRCA2 | c.2477A>T (p.Glu826Val) c.2108A>T (p.Glu703Val) n.2477A>T | |
| 13 | g.32336835dup | CA015423 | BRCA2 | c.2480dup (p.Asn827LysfsTer3) c.2111dup (p.Asn704LysfsTer3) n.2480dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336833A>C | CA387772378 | BRCA2 | c.2478A>C (p.Glu826Asp) c.2109A>C (p.Glu703Asp) n.2478A>C | |
| 13 | g.32336833A>G | CA483437079 | BRCA2 | c.2478A>G (p.Glu826=) c.2109A>G (p.Glu703=) n.2478A>G | ClinVar dbSNP |
| 13 | g.32336833A>T | CA387772379 | BRCA2 | c.2478A>T (p.Glu826Asp) c.2109A>T (p.Glu703Asp) n.2478A>T | |
| 13 | g.32336834A>C | CA387772380 | BRCA2 | c.2479A>C (p.Asn827His) c.2110A>C (p.Asn704His) n.2479A>C | ClinVar dbSNP |
| 13 | g.32336834A>G | CA387772381 | BRCA2 | c.2479A>G (p.Asn827Asp) c.2110A>G (p.Asn704Asp) n.2479A>G | |
| 13 | g.32336834A>T | CA387772382 | BRCA2 | c.2479A>T (p.Asn827Tyr) c.2110A>T (p.Asn704Tyr) n.2479A>T | dbSNP |
| 13 | g.32336834_32336837delinsAATT | CA2082808919 | BRCA2 | c.2479_2482delinsAATT (p.Asn827=) c.2110_2113delinsAATT (p.Asn704=) n.2479_2482delinsAATT | |
| 13 | g.32336835A= | CA2082808925 | BRCA2 | c.2480A= (p.Asn827=) c.2111A= (p.Asn704=) n.2480A= | |
| 13 | g.32336835A>C | CA387772383 | BRCA2 | c.2480A>C (p.Asn827Thr) c.2111A>C (p.Asn704Thr) n.2480A>C | |
| 13 | g.32336835A>G | CA387772384 | BRCA2 | c.2480A>G (p.Asn827Ser) c.2111A>G (p.Asn704Ser) n.2480A>G | ClinVar dbSNP |
| 13 | g.32336835A>T | CA387772385 | BRCA2 | c.2480A>T (p.Asn827Ile) c.2111A>T (p.Asn704Ile) n.2480A>T | |
| 13 | g.32336837_32336839del | CA609453770 | BRCA2 | c.2482_2484del (p.Tyr828del) c.2113_2115del (p.Tyr705del) n.2482_2484del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336836T>A | CA387772386 | BRCA2 | c.2481T>A (p.Asn827Lys) c.2112T>A (p.Asn704Lys) n.2481T>A | |
| 13 | g.32336836T>C | CA483437216 | BRCA2 | c.2481T>C (p.Asn827=) c.2112T>C (p.Asn704=) n.2481T>C | |
| 13 | g.32336836T>G | CA387772387 | BRCA2 | c.2481T>G (p.Asn827Lys) c.2112T>G (p.Asn704Lys) n.2481T>G | |
| 13 | g.32336837T>A | CA387772388 | BRCA2 | c.2482T>A (p.Tyr828Asn) c.2113T>A (p.Tyr705Asn) n.2482T>A | |
| 13 | g.32336837T>C | CA16614121 | BRCA2 | c.2482T>C (p.Tyr828His) c.2113T>C (p.Tyr705His) n.2482T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336837T>G | CA387772389 | BRCA2 | c.2482T>G (p.Tyr828Asp) c.2113T>G (p.Tyr705Asp) n.2482T>G | |
| 13 | g.32336837T= | CA2082808929 | BRCA2 | c.2482T= (p.Tyr828=) c.2113T= (p.Tyr705=) n.2482T= | |
| 13 | g.32336838A= | CA2082808941 | BRCA2 | c.2483A= (p.Tyr828=) c.2114A= (p.Tyr705=) n.2483A= | |
| 13 | g.32336838A>C | CA387772390 | BRCA2 | c.2483A>C (p.Tyr828Ser) c.2114A>C (p.Tyr705Ser) n.2483A>C | dbSNP |
| 13 | g.32336838A>G | CA015430 | BRCA2 | c.2483A>G (p.Tyr828Cys) c.2114A>G (p.Tyr705Cys) n.2483A>G | ClinVar dbSNP |
| 13 | g.32336838A>T | CA387772391 | BRCA2 | c.2483A>T (p.Tyr828Phe) c.2114A>T (p.Tyr705Phe) n.2483A>T | dbSNP |
| 13 | g.32336839T>A | CA387772392 | BRCA2 | c.2484T>A (p.Tyr828Ter) c.2115T>A (p.Tyr705Ter) n.2484T>A | ClinVar dbSNP |
| 13 | g.32336839T>C | CA015438 | BRCA2 | c.2484T>C (p.Tyr828=) c.2115T>C (p.Tyr705=) n.2484T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336839T>G | CA387772393 | BRCA2 | c.2484T>G (p.Tyr828Ter) c.2115T>G (p.Tyr705Ter) n.2484T>G | gnomAD v4 |
| 13 | g.32336839T= | CA2082808944 | BRCA2 | c.2484T= (p.Tyr828=) c.2115T= (p.Tyr705=) n.2484T= | |
| 13 | g.32336840A= | CA2082808953 | BRCA2 | c.2485A= (p.Lys829=) c.2116A= (p.Lys706=) n.2485A= | |
| 13 | g.32336840A>C | CA387772394 | BRCA2 | c.2485A>C (p.Lys829Gln) c.2116A>C (p.Lys706Gln) n.2485A>C | |
| 13 | g.32336840A>G | CA387772396 | BRCA2 | c.2485A>G (p.Lys829Glu) c.2116A>G (p.Lys706Glu) n.2485A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336840A>T | CA387772395 | BRCA2 | c.2485A>T (p.Lys829Ter) c.2116A>T (p.Lys706Ter) n.2485A>T | ClinVar dbSNP |
| 13 | g.32336844dup | CA1139663114 | BRCA2 | c.2489dup (p.Asn830LysfsTer3) c.2120dup (p.Asn707LysfsTer3) n.2489dup | ClinVar dbSNP |
| 13 | g.32336841A>C | CA387772397 | BRCA2 | c.2486A>C (p.Lys829Thr) c.2117A>C (p.Lys706Thr) n.2486A>C | |
| 13 | g.32336841A>G | CA387772399 | BRCA2 | c.2486A>G (p.Lys829Arg) c.2117A>G (p.Lys706Arg) n.2486A>G | |
| 13 | g.32336841A>T | CA387772398 | BRCA2 | c.2486A>T (p.Lys829Ile) c.2117A>T (p.Lys706Ile) n.2486A>T | dbSNP |
| 13 | g.32336842A>C | CA387772400 | BRCA2 | c.2487A>C (p.Lys829Asn) c.2118A>C (p.Lys706Asn) n.2487A>C | |
| 13 | g.32336842A>G | CA483437223 | BRCA2 | c.2487A>G (p.Lys829=) c.2118A>G (p.Lys706=) n.2487A>G | |
| 13 | g.32336842A>T | CA387772401 | BRCA2 | c.2487A>T (p.Lys829Asn) c.2118A>T (p.Lys706Asn) n.2487A>T | dbSNP |
| 13 | g.32336843A= | CA2082808964 | BRCA2 | c.2488A= (p.Asn830=) c.2119A= (p.Asn707=) n.2488A= | |
| 13 | g.32336843A>C | CA387772402 | BRCA2 | c.2488A>C (p.Asn830His) c.2119A>C (p.Asn707His) n.2488A>C | dbSNP |
| 13 | g.32336843A>G | CA015446 | BRCA2 | c.2488A>G (p.Asn830Asp) c.2119A>G (p.Asn707Asp) n.2488A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336843A>T | CA387772403 | BRCA2 | c.2488A>T (p.Asn830Tyr) c.2119A>T (p.Asn707Tyr) n.2488A>T | dbSNP |
| 13 | g.32336843_32336844insG | CA913188611 | BRCA2 | c.2488_2489insG (p.Asn830ArgfsTer3) c.2119_2120insG (p.Asn707ArgfsTer3) n.2488_2489insG | ClinVar |
| 13 | g.32336844A= | CA2082808978 | BRCA2 | c.2489A= (p.Asn830=) c.2120A= (p.Asn707=) n.2489A= | |
| 13 | g.32336844A>C | CA387772404 | BRCA2 | c.2489A>C (p.Asn830Thr) c.2120A>C (p.Asn707Thr) n.2489A>C | dbSNP |
| 13 | g.32336844A>G | CA015453 | BRCA2 | c.2489A>G (p.Asn830Ser) c.2120A>G (p.Asn707Ser) n.2489A>G | ClinVar dbSNP |
| 13 | g.32336844A>T | CA387772405 | BRCA2 | c.2489A>T (p.Asn830Ile) c.2120A>T (p.Asn707Ile) n.2489A>T | ClinVar dbSNP |
| 13 | g.32336844_32336845insT | CA658823624 | BRCA2 | c.2489_2490insT (p.Val831ArgfsTer2) c.2120_2121insT (p.Val708ArgfsTer2) n.2489_2490insT | ClinVar dbSNP |
| 13 | g.32336845C>A | CA015457 | BRCA2 | c.2490C>A (p.Asn830Lys) c.2121C>A (p.Asn707Lys) n.2490C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336845C= | CA2082809005 | BRCA2 | c.2490C= (p.Asn830=) c.2121C= (p.Asn707=) n.2490C= | |
| 13 | g.32336845C>G | CA10588562 | BRCA2 | c.2490C>G (p.Asn830Lys) c.2121C>G (p.Asn707Lys) n.2490C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336845C>T | CA015465 | BRCA2 | c.2490C>T (p.Asn830=) c.2121C>T (p.Asn707=) n.2490C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336845_32336846insT | CA10589157 | BRCA2 | c.2490_2491insT (p.Val831CysfsTer2) c.2121_2122insT (p.Val708CysfsTer2) n.2490_2491insT | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336846G>A | CA015472 | BRCA2 | c.2491G>A (p.Val831Ile) c.2122G>A (p.Val708Ile) n.2491G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32336846G>C | CA387772407 | BRCA2 | c.2491G>C (p.Val831Leu) c.2122G>C (p.Val708Leu) n.2491G>C | dbSNP gnomAD v4 |
| 13 | g.32336846G= | CA2082809019 | BRCA2 | c.2491G= (p.Val831=) c.2122G= (p.Val708=) n.2491G= | |
| 13 | g.32336846G>T | CA387772406 | BRCA2 | c.2491G>T (p.Val831Phe) c.2122G>T (p.Val708Phe) n.2491G>T | dbSNP |
| 13 | g.32336850_32336857del | CA2580087274 | BRCA2 | c.2495_2502del (p.Glu832AlafsTer3) c.2126_2133del (p.Glu709AlafsTer3) n.2495_2502del | ClinVar |
| 13 | g.32336847T>A | CA387772408 | BRCA2 | c.2492T>A (p.Val831Asp) c.2123T>A (p.Val708Asp) n.2492T>A | dbSNP |
| 13 | g.32336847T>C | CA6940608 | BRCA2 | c.2492T>C (p.Val831Ala) c.2123T>C (p.Val708Ala) n.2492T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336847T>G | CA387772409 | BRCA2 | c.2492T>G (p.Val831Gly) c.2123T>G (p.Val708Gly) n.2492T>G | dbSNP |
| 13 | g.32336847T= | CA2082809034 | BRCA2 | c.2492T= (p.Val831=) c.2123T= (p.Val708=) n.2492T= | |
| 13 | g.32336848dup | CA2695218007 | BRCA2 | c.2493dup (p.Glu832Ter) c.2124dup (p.Glu709Ter) n.2493dup | |
| 13 | g.32336848T>A | CA483437226 | BRCA2 | c.2493T>A (p.Val831=) c.2124T>A (p.Val708=) n.2493T>A | dbSNP |
| 13 | g.32336848T>C | CA483437227 | BRCA2 | c.2493T>C (p.Val831=) c.2124T>C (p.Val708=) n.2493T>C | ClinVar dbSNP |
| 13 | g.32336848T>G | CA483437228 | BRCA2 | c.2493T>G (p.Val831=) c.2124T>G (p.Val708=) n.2493T>G | ClinVar dbSNP |
| 13 | g.32336848T= | CA2082809039 | BRCA2 | c.2493T= (p.Val831=) c.2124T= (p.Val708=) n.2493T= | |
| 13 | g.32336849del | CA2727920011 | BRCA2 | c.2494del (p.Glu832SerfsTer9) c.2125del (p.Glu709SerfsTer9) n.2494del | dbSNP |
| 13 | g.32336849G>A | CA387772410 | BRCA2 | c.2494G>A (p.Glu832Lys) c.2125G>A (p.Glu709Lys) n.2494G>A | dbSNP COSMIC COSMIC |
| 13 | g.32336849G>C | CA387772411 | BRCA2 | c.2494G>C (p.Glu832Gln) c.2125G>C (p.Glu709Gln) n.2494G>C | ClinVar dbSNP |
| 13 | g.32336849G= | CA2082809049 | BRCA2 | c.2494G= (p.Glu832=) c.2125G= (p.Glu709=) n.2494G= | |
| 13 | g.32336849G>T | CA015478 | BRCA2 | c.2494G>T (p.Glu832Ter) c.2125G>T (p.Glu709Ter) n.2494G>T | ClinVar dbSNP |
| 13 | g.32336850A>C | CA387772412 | BRCA2 | c.2495A>C (p.Glu832Ala) c.2126A>C (p.Glu709Ala) n.2495A>C | |
| 13 | g.32336850A>G | CA387772413 | BRCA2 | c.2495A>G (p.Glu832Gly) c.2126A>G (p.Glu709Gly) n.2495A>G | dbSNP COSMIC COSMIC |
| 13 | g.32336850A>T | CA387772414 | BRCA2 | c.2495A>T (p.Glu832Val) c.2126A>T (p.Glu709Val) n.2495A>T | dbSNP COSMIC COSMIC |
| 13 | g.32336851G>A | CA015486 | BRCA2 | c.2496G>A (p.Glu832=) c.2127G>A (p.Glu709=) n.2496G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336851G>C | CA387772415 | BRCA2 | c.2496G>C (p.Glu832Asp) c.2127G>C (p.Glu709Asp) n.2496G>C | ClinVar dbSNP |
| 13 | g.32336851G= | CA2082809055 | BRCA2 | c.2496G= (p.Glu832=) c.2127G= (p.Glu709=) n.2496G= | |
| 13 | g.32336851G>T | CA387772416 | BRCA2 | c.2496G>T (p.Glu832Asp) c.2127G>T (p.Glu709Asp) n.2496G>T | ClinVar dbSNP |
| 13 | g.32336852C>A | CA387772418 | BRCA2 | c.2497C>A (p.Leu833Met) c.2128C>A (p.Leu710Met) n.2497C>A | dbSNP |
| 13 | g.32336852C= | CA2082809058 | BRCA2 | c.2497C= (p.Leu833=) c.2128C= (p.Leu710=) n.2497C= | |
| 13 | g.32336852C>G | CA387772417 | BRCA2 | c.2497C>G (p.Leu833Val) c.2128C>G (p.Leu710Val) n.2497C>G | |
| 13 | g.32336852C>T | CA483437231 | BRCA2 | c.2497C>T (p.Leu833=) c.2128C>T (p.Leu710=) n.2497C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336853T>A | CA387772419 | BRCA2 | c.2498T>A (p.Leu833Gln) c.2129T>A (p.Leu710Gln) n.2498T>A | dbSNP |
| 13 | g.32336853T>C | CA387772420 | BRCA2 | c.2498T>C (p.Leu833Pro) c.2129T>C (p.Leu710Pro) n.2498T>C | ClinVar dbSNP |
| 13 | g.32336853T>G | CA387772421 | BRCA2 | c.2498T>G (p.Leu833Arg) c.2129T>G (p.Leu710Arg) n.2498T>G | |
| 13 | g.32336853T= | CA2082809065 | BRCA2 | c.2498T= (p.Leu833=) c.2129T= (p.Leu710=) n.2498T= | |
| 13 | g.32336855_32336857dup | CA2622601016 | BRCA2 | c.2500_2502dup (p.Leu834_Pro835insLeu) c.2131_2133dup (p.Leu711_Pro712insLeu) n.2500_2502dup | gnomAD v4 |
| 13 | g.32336853_32336861delinsAACAG | CA2695218008 | BRCA2 | c.2498_2506delinsAACAG (p.Leu833GlnfsTer7) c.2129_2137delinsAACAG (p.Leu710GlnfsTer7) n.2498_2506delinsAACAG | |
| 13 | g.32336854G>A | CA483437235 | BRCA2 | c.2499G>A (p.Leu833=) c.2130G>A (p.Leu710=) n.2499G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336854G>C | CA483437236 | BRCA2 | c.2499G>C (p.Leu833=) c.2130G>C (p.Leu710=) n.2499G>C | dbSNP |
| 13 | g.32336854G= | CA2082809077 | BRCA2 | c.2499G= (p.Leu833=) c.2130G= (p.Leu710=) n.2499G= | |
| 13 | g.32336854G>T | CA483437238 | BRCA2 | c.2499G>T (p.Leu833=) c.2130G>T (p.Leu710=) n.2499G>T | |
| 13 | g.32336854_32336855delinsGT | CA2082809078 | BRCA2 | c.2499_2500delinsGT (p.Leu833=) c.2130_2131delinsGT (p.Leu710=) n.2499_2500delinsGT | |
| 13 | g.32336855T>A | CA387772422 | BRCA2 | c.2500T>A (p.Leu834Met) c.2131T>A (p.Leu711Met) n.2500T>A | dbSNP |
| 13 | g.32336855T>C | CA483437239 | BRCA2 | c.2500T>C (p.Leu834=) c.2131T>C (p.Leu711=) n.2500T>C | ClinVar dbSNP |
| 13 | g.32336855T>G | CA387772423 | BRCA2 | c.2500T>G (p.Leu834Val) c.2131T>G (p.Leu711Val) n.2500T>G | dbSNP |
| 13 | g.32336856del | CA10579537 | BRCA2 | c.2501del (p.Leu834CysfsTer7) c.2132del (p.Leu711CysfsTer7) n.2501del | ClinVar dbSNP |
| 13 | g.32336855_32336856insG | CA2499222106 | BRCA2 | c.2500_2501insG (p.Leu834CysfsTer4) c.2131_2132insG (p.Leu711CysfsTer4) n.2500_2501insG | |
| 13 | g.32336856T>A | CA387772426 | BRCA2 | c.2501T>A (p.Leu834Ter) c.2132T>A (p.Leu711Ter) n.2501T>A | dbSNP |
| 13 | g.32336856T>C | CA387772425 | BRCA2 | c.2501T>C (p.Leu834Ser) c.2132T>C (p.Leu711Ser) n.2501T>C | |
| 13 | g.32336856T>G | CA387772424 | BRCA2 | c.2501T>G (p.Leu834Trp) c.2132T>G (p.Leu711Trp) n.2501T>G | |
| 13 | g.32336857G>A | CA483437241 | BRCA2 | c.2502G>A (p.Leu834=) c.2133G>A (p.Leu711=) n.2502G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336857G>C | CA387772427 | BRCA2 | c.2502G>C (p.Leu834Phe) c.2133G>C (p.Leu711Phe) n.2502G>C | dbSNP |
| 13 | g.32336857G= | CA2082809093 | BRCA2 | c.2502G= (p.Leu834=) c.2133G= (p.Leu711=) n.2502G= | |
| 13 | g.32336857G>T | CA16619673 | BRCA2 | c.2502G>T (p.Leu834Phe) c.2133G>T (p.Leu711Phe) n.2502G>T | ClinVar dbSNP gnomAD v2 |
| 13 | g.32336858C>A | CA387772428 | BRCA2 | c.2503C>A (p.Pro835Thr) c.2134C>A (p.Pro712Thr) n.2503C>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336858C= | CA2082809101 | BRCA2 | c.2503C= (p.Pro835=) c.2134C= (p.Pro712=) n.2503C= | |
| 13 | g.32336858C>G | CA387772429 | BRCA2 | c.2503C>G (p.Pro835Ala) c.2134C>G (p.Pro712Ala) n.2503C>G | dbSNP |
| 13 | g.32336858C>T | CA015495 | BRCA2 | c.2503C>T (p.Pro835Ser) c.2134C>T (p.Pro712Ser) n.2503C>T | ClinVar dbSNP |
| 13 | g.32336859C>A | CA387772430 | BRCA2 | c.2504C>A (p.Pro835Gln) c.2135C>A (p.Pro712Gln) n.2504C>A | dbSNP |
| 13 | g.32336859C= | CA2082809108 | BRCA2 | c.2504C= (p.Pro835=) c.2135C= (p.Pro712=) n.2504C= | |
| 13 | g.32336859C>G | CA387772432 | BRCA2 | c.2504C>G (p.Pro835Arg) c.2135C>G (p.Pro712Arg) n.2504C>G | dbSNP |
| 13 | g.32336859C>T | CA387772431 | BRCA2 | c.2504C>T (p.Pro835Leu) c.2135C>T (p.Pro712Leu) n.2504C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336860A>C | CA483437244 | BRCA2 | c.2505A>C (p.Pro835=) c.2136A>C (p.Pro712=) n.2505A>C | dbSNP |
| 13 | g.32336860A>G | CA483437245 | BRCA2 | c.2505A>G (p.Pro835=) c.2136A>G (p.Pro712=) n.2505A>G | dbSNP gnomAD v4 |
| 13 | g.32336860A>T | CA483437246 | BRCA2 | c.2505A>T (p.Pro835=) c.2136A>T (p.Pro712=) n.2505A>T | dbSNP |
| 13 | g.32336860dup | CA658761166 | BRCA2 | c.2505dup (p.Pro836ThrfsTer2) c.2136dup (p.Pro713ThrfsTer2) n.2505dup | ClinVar |
| 13 | g.32336861C>A | CA387772433 | BRCA2 | c.2506C>A (p.Pro836Thr) c.2137C>A (p.Pro713Thr) n.2506C>A | dbSNP |
| 13 | g.32336861C= | CA2082809119 | BRCA2 | c.2506C= (p.Pro836=) c.2137C= (p.Pro713=) n.2506C= | |
| 13 | g.32336861C>G | CA387772434 | BRCA2 | c.2506C>G (p.Pro836Ala) c.2137C>G (p.Pro713Ala) n.2506C>G | |
| 13 | g.32336861C>T | CA387772435 | BRCA2 | c.2506C>T (p.Pro836Ser) c.2137C>T (p.Pro713Ser) n.2506C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336862del | CA2580087276 | BRCA2 | c.2507del (p.Pro836LeufsTer5) c.2138del (p.Pro713LeufsTer5) n.2507del | ClinVar |
| 13 | g.32336862C>A | CA387772436 | BRCA2 | c.2507C>A (p.Pro836His) c.2138C>A (p.Pro713His) n.2507C>A | |
| 13 | g.32336862C= | CA2082809129 | BRCA2 | c.2507C= (p.Pro836=) c.2138C= (p.Pro713=) n.2507C= | |
| 13 | g.32336862C>G | CA387772437 | BRCA2 | c.2507C>G (p.Pro836Arg) c.2138C>G (p.Pro713Arg) n.2507C>G | dbSNP |
| 13 | g.32336862C>T | CA015505 | BRCA2 | c.2507C>T (p.Pro836Leu) c.2138C>T (p.Pro713Leu) n.2507C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336863T>A | CA483437249 | BRCA2 | c.2508T>A (p.Pro836=) c.2139T>A (p.Pro713=) n.2508T>A | dbSNP |
| 13 | g.32336863T>C | CA483437252 | BRCA2 | c.2508T>C (p.Pro836=) c.2139T>C (p.Pro713=) n.2508T>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32336863T>G | CA483437251 | BRCA2 | c.2508T>G (p.Pro836=) c.2139T>G (p.Pro713=) n.2508T>G | |
| 13 | g.32336863_32336868delinsTGAAAA | CA2082809133 | BRCA2 | c.2508_2513delinsTGAAAA (p.Pro836=) c.2139_2144delinsTGAAAA (p.Pro713=) n.2508_2513delinsTGAAAA | |
| 13 | g.32336864G>A | CA387772438 | BRCA2 | c.2509G>A (p.Glu837Lys) c.2140G>A (p.Glu714Lys) n.2509G>A | COSMIC COSMIC |
| 13 | g.32336864G>C | CA387772439 | BRCA2 | c.2509G>C (p.Glu837Gln) c.2140G>C (p.Glu714Gln) n.2509G>C | gnomAD v4 |
| 13 | g.32336864G>T | CA387772440 | BRCA2 | c.2509G>T (p.Glu837Ter) c.2140G>T (p.Glu714Ter) n.2509G>T | |
| 13 | g.32336864_32336865delinsGA | CA2082809140 | BRCA2 | c.2509_2510delinsGA (p.Glu837=) c.2140_2141delinsGA (p.Glu714=) n.2509_2510delinsGA | |
| 13 | g.32336864_32336868del | CA10589158 | BRCA2 | c.2509_2513del (p.Glu837IlefsTer?) c.2140_2144del (p.Glu714IlefsTer?) n.2509_2513del | ClinVar dbSNP |
| 13 | g.32336865A>C | CA387772443 | BRCA2 | c.2510A>C (p.Glu837Ala) c.2141A>C (p.Glu714Ala) n.2510A>C | |
| 13 | g.32336865A>G | CA387772441 | BRCA2 | c.2510A>G (p.Glu837Gly) c.2141A>G (p.Glu714Gly) n.2510A>G | dbSNP |
| 13 | g.32336865A>T | CA387772442 | BRCA2 | c.2510A>T (p.Glu837Val) c.2141A>T (p.Glu714Val) n.2510A>T | dbSNP |
| 13 | g.32336869dup | CA10589160 | BRCA2 | c.2514dup (p.Tyr839IlefsTer?) c.2145dup (p.Tyr716IlefsTer?) n.2514dup | ClinVar dbSNP |
| 13 | g.32336869del | CA10589159 | BRCA2 | c.2514del (p.Lys838AsnfsTer3) c.2145del (p.Lys715AsnfsTer3) n.2514del | ClinVar dbSNP |
| 13 | g.32336866A>C | CA387772444 | BRCA2 | c.2511A>C (p.Glu837Asp) c.2142A>C (p.Glu714Asp) n.2511A>C | |
| 13 | g.32336866A>G | CA483437253 | BRCA2 | c.2511A>G (p.Glu837=) c.2142A>G (p.Glu714=) n.2511A>G | |
| 13 | g.32336866A>T | CA387772445 | BRCA2 | c.2511A>T (p.Glu837Asp) c.2142A>T (p.Glu714Asp) n.2511A>T | |
| 13 | g.32336867A= | CA2082809164 | BRCA2 | c.2512A= (p.Lys838=) c.2143A= (p.Lys715=) n.2512A= | |
| 13 | g.32336867A>C | CA387772447 | BRCA2 | c.2512A>C (p.Lys838Gln) c.2143A>C (p.Lys715Gln) n.2512A>C | |
| 13 | g.32336867A>G | CA6940609 | BRCA2 | c.2512A>G (p.Lys838Glu) c.2143A>G (p.Lys715Glu) n.2512A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336867A>T | CA387772446 | BRCA2 | c.2512A>T (p.Lys838Ter) c.2143A>T (p.Lys715Ter) n.2512A>T | ClinVar dbSNP |
| 13 | g.32336868A>C | CA387772448 | BRCA2 | c.2513A>C (p.Lys838Thr) c.2144A>C (p.Lys715Thr) n.2513A>C | |
| 13 | g.32336868A>G | CA387772449 | BRCA2 | c.2513A>G (p.Lys838Arg) c.2144A>G (p.Lys715Arg) n.2513A>G | |
| 13 | g.32336868A>T | CA387772450 | BRCA2 | c.2513A>T (p.Lys838Ile) c.2144A>T (p.Lys715Ile) n.2513A>T | dbSNP |
| 13 | g.32336869A= | CA2082809179 | BRCA2 | c.2514A= (p.Lys838=) c.2145A= (p.Lys715=) n.2514A= | |
| 13 | g.32336869A>C | CA387772451 | BRCA2 | c.2514A>C (p.Lys838Asn) c.2145A>C (p.Lys715Asn) n.2514A>C | ClinVar dbSNP |
| 13 | g.32336869A>G | CA483437255 | BRCA2 | c.2514A>G (p.Lys838=) c.2145A>G (p.Lys715=) n.2514A>G | |
| 13 | g.32336869A>T | CA387772452 | BRCA2 | c.2514A>T (p.Lys838Asn) c.2145A>T (p.Lys715Asn) n.2514A>T | |
| 13 | g.32336871_32336874del | CA2580087278 | BRCA2 | c.2516_2519del (p.Tyr839Ter) c.2147_2150del (p.Tyr716Ter) n.2516_2519del | ClinVar |
| 13 | g.32336870T>A | CA387772453 | BRCA2 | c.2515T>A (p.Tyr839Asn) c.2146T>A (p.Tyr716Asn) n.2515T>A | dbSNP |
| 13 | g.32336870T>C | CA015518 | BRCA2 | c.2515T>C (p.Tyr839His) c.2146T>C (p.Tyr716His) n.2515T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336870T>G | CA387772454 | BRCA2 | c.2515T>G (p.Tyr839Asp) c.2146T>G (p.Tyr716Asp) n.2515T>G | dbSNP |
| 13 | g.32336870T= | CA2082809189 | BRCA2 | c.2515T= (p.Tyr839=) c.2146T= (p.Tyr716=) n.2515T= | |
| 13 | g.32336870dup | CA2695199251 | BRCA2 | c.2515dup (p.Tyr839LeufsTer?) c.2146dup (p.Tyr716LeufsTer?) n.2515dup | ClinVar |
| 13 | g.32336871A>C | CA387772457 | BRCA2 | c.2516A>C (p.Tyr839Ser) c.2147A>C (p.Tyr716Ser) n.2516A>C | dbSNP |
| 13 | g.32336871A>G | CA387772455 | BRCA2 | c.2516A>G (p.Tyr839Cys) c.2147A>G (p.Tyr716Cys) n.2516A>G | ClinVar dbSNP |
| 13 | g.32336871A>T | CA387772456 | BRCA2 | c.2516A>T (p.Tyr839Phe) c.2147A>T (p.Tyr716Phe) n.2516A>T | dbSNP |
| 13 | g.32336871dup | CA915946988 | BRCA2 | c.2516dup (p.Tyr839Ter) c.2147dup (p.Tyr716Ter) n.2516dup | ClinVar dbSNP |
| 13 | g.32336872_32336876del | CA2739277501 | BRCA2 | c.2517_2521del (p.Tyr839Ter) c.2148_2152del (p.Tyr716Ter) n.2517_2521del | ClinVar |
| 13 | g.32336872del | CA2695199252 | BRCA2 | c.2517del (p.Tyr839Ter) c.2148del (p.Tyr716Ter) n.2517del | ClinVar |
| 13 | g.32336872C>A | CA015526 | BRCA2 | c.2517C>A (p.Tyr839Ter) c.2148C>A (p.Tyr716Ter) n.2517C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336872C= | CA2082809207 | BRCA2 | c.2517C= (p.Tyr839=) c.2148C= (p.Tyr716=) n.2517C= | |
| 13 | g.32336872C>G | CA387772458 | BRCA2 | c.2517C>G (p.Tyr839Ter) c.2148C>G (p.Tyr716Ter) n.2517C>G | dbSNP |
| 13 | g.32336872C>T | CA483437257 | BRCA2 | c.2517C>T (p.Tyr839=) c.2148C>T (p.Tyr716=) n.2517C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336873A= | CA2082809214 | BRCA2 | c.2518A= (p.Met840=) c.2149A= (p.Met717=) n.2518A= | |
| 13 | g.32336873A>C | CA387772459 | BRCA2 | c.2518A>C (p.Met840Leu) c.2149A>C (p.Met717Leu) n.2518A>C | |
| 13 | g.32336873A>G | CA387772460 | BRCA2 | c.2518A>G (p.Met840Val) c.2149A>G (p.Met717Val) n.2518A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336873A>T | CA387772461 | BRCA2 | c.2518A>T (p.Met840Leu) c.2149A>T (p.Met717Leu) n.2518A>T | |
| 13 | g.32336874T>A | CA387772462 | BRCA2 | c.2519T>A (p.Met840Lys) c.2150T>A (p.Met717Lys) n.2519T>A | |
| 13 | g.32336874T>C | CA6940610 | BRCA2 | c.2519T>C (p.Met840Thr) c.2150T>C (p.Met717Thr) n.2519T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336874T>G | CA387772463 | BRCA2 | c.2519T>G (p.Met840Arg) c.2150T>G (p.Met717Arg) n.2519T>G | |
| 13 | g.32336874T= | CA2082809220 | BRCA2 | c.2519T= (p.Met840=) c.2150T= (p.Met717=) n.2519T= | |
| 13 | g.32336875G>A | CA387772464 | BRCA2 | c.2520G>A (p.Met840Ile) c.2151G>A (p.Met717Ile) n.2520G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336875G>C | CA387772465 | BRCA2 | c.2520G>C (p.Met840Ile) c.2151G>C (p.Met717Ile) n.2520G>C | dbSNP gnomAD v4 |
| 13 | g.32336875G= | CA2082809229 | BRCA2 | c.2520G= (p.Met840=) c.2151G= (p.Met717=) n.2520G= | |
| 13 | g.32336875G>T | CA387772466 | BRCA2 | c.2520G>T (p.Met840Ile) c.2151G>T (p.Met717Ile) n.2520G>T | |
| 13 | g.32336876A= | CA2082809234 | BRCA2 | c.2521A= (p.Arg841=) c.2152A= (p.Arg718=) n.2521A= | |
| 13 | g.32336876A>C | CA483437259 | BRCA2 | c.2521A>C (p.Arg841=) c.2152A>C (p.Arg718=) n.2521A>C | |
| 13 | g.32336876A>G | CA387772468 | BRCA2 | c.2521A>G (p.Arg841Gly) c.2152A>G (p.Arg718Gly) n.2521A>G | ClinVar dbSNP |
| 13 | g.32336876A>T | CA387772467 | BRCA2 | c.2521A>T (p.Arg841Ter) c.2152A>T (p.Arg718Ter) n.2521A>T | dbSNP |
| 13 | g.32336877G>A | CA015536 | BRCA2 | c.2522G>A (p.Arg841Lys) c.2153G>A (p.Arg718Lys) n.2522G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336877G>C | CA387772469 | BRCA2 | c.2522G>C (p.Arg841Thr) c.2153G>C (p.Arg718Thr) n.2522G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336877G= | CA2082809242 | BRCA2 | c.2522G= (p.Arg841=) c.2153G= (p.Arg718=) n.2522G= | |
| 13 | g.32336877G>T | CA387772470 | BRCA2 | c.2522G>T (p.Arg841Ile) c.2153G>T (p.Arg718Ile) n.2522G>T | dbSNP |
| 13 | g.32336878del | CA2739277502 | BRCA2 | c.2523del (p.Val842Ter) c.2154del (p.Val719Ter) n.2523del | ClinVar |
| 13 | g.32336878A>C | CA387772471 | BRCA2 | c.2523A>C (p.Arg841Ser) c.2154A>C (p.Arg718Ser) n.2523A>C | ClinVar |
| 13 | g.32336878A>G | CA483437261 | BRCA2 | c.2523A>G (p.Arg841=) c.2154A>G (p.Arg718=) n.2523A>G | |
| 13 | g.32336878A>T | CA387772472 | BRCA2 | c.2523A>T (p.Arg841Ser) c.2154A>T (p.Arg718Ser) n.2523A>T | ClinVar dbSNP |
| 13 | g.32336879G>A | CA387772473 | BRCA2 | c.2524G>A (p.Val842Ile) c.2155G>A (p.Val719Ile) n.2524G>A | dbSNP |
| 13 | g.32336879G>C | CA015544 | BRCA2 | c.2524G>C (p.Val842Leu) c.2155G>C (p.Val719Leu) n.2524G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336879G= | CA2082809245 | BRCA2 | c.2524G= (p.Val842=) c.2155G= (p.Val719=) n.2524G= | |
| 13 | g.32336879G>T | CA387772474 | BRCA2 | c.2524G>T (p.Val842Leu) c.2155G>T (p.Val719Leu) n.2524G>T | |
| 13 | g.32336880del | CA2837994568 | BRCA2 | c.2525del (p.Val842GlufsTer16) c.2156del (p.Val719GlufsTer16) n.2525del | |
| 13 | g.32336880T>A | CA387772475 | BRCA2 | c.2525T>A (p.Val842Glu) c.2156T>A (p.Val719Glu) n.2525T>A | dbSNP |
| 13 | g.32336880T>C | CA387772476 | BRCA2 | c.2525T>C (p.Val842Ala) c.2156T>C (p.Val719Ala) n.2525T>C | ClinVar dbSNP |
| 13 | g.32336880T>G | CA387772477 | BRCA2 | c.2525T>G (p.Val842Gly) c.2156T>G (p.Val719Gly) n.2525T>G | dbSNP |
| 13 | g.32336880T= | CA2082809250 | BRCA2 | c.2525T= (p.Val842=) c.2156T= (p.Val719=) n.2525T= | |
| 13 | g.32336881A= | CA2082809258 | BRCA2 | c.2526A= (p.Val842=) c.2157A= (p.Val719=) n.2526A= | |
| 13 | g.32336881A>C | CA10583083 | BRCA2 | c.2526A>C (p.Val842=) c.2157A>C (p.Val719=) n.2526A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336881A>G | CA015560 | BRCA2 | c.2526A>G (p.Val842=) c.2157A>G (p.Val719=) n.2526A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336881A>T | CA483437263 | BRCA2 | c.2526A>T (p.Val842=) c.2157A>T (p.Val719=) n.2526A>T | dbSNP |
| 13 | g.32336881dup | CA015550 | BRCA2 | c.2526dup (p.Ala843SerfsTer?) c.2157dup (p.Ala720SerfsTer?) n.2526dup | ClinVar dbSNP |
| 13 | g.32336882G>A | CA387772480 | BRCA2 | c.2527G>A (p.Ala843Thr) c.2158G>A (p.Ala720Thr) n.2527G>A | ClinVar dbSNP |
| 13 | g.32336882G>C | CA387772478 | BRCA2 | c.2527G>C (p.Ala843Pro) c.2158G>C (p.Ala720Pro) n.2527G>C | ClinVar dbSNP |
| 13 | g.32336882G= | CA2082809270 | BRCA2 | c.2527G= (p.Ala843=) c.2158G= (p.Ala720=) n.2527G= | |
| 13 | g.32336882G>T | CA387772479 | BRCA2 | c.2527G>T (p.Ala843Ser) c.2158G>T (p.Ala720Ser) n.2527G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336883C>A | CA387772481 | BRCA2 | c.2528C>A (p.Ala843Glu) c.2159C>A (p.Ala720Glu) n.2528C>A | dbSNP |
| 13 | g.32336883C= | CA2082809280 | BRCA2 | c.2528C= (p.Ala843=) c.2159C= (p.Ala720=) n.2528C= | |
| 13 | g.32336883C>G | CA387772482 | BRCA2 | c.2528C>G (p.Ala843Gly) c.2159C>G (p.Ala720Gly) n.2528C>G | dbSNP |
| 13 | g.32336883C>T | CA015568 | BRCA2 | c.2528C>T (p.Ala843Val) c.2159C>T (p.Ala720Val) n.2528C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32336884A= | CA2082809293 | BRCA2 | c.2529A= (p.Ala843=) c.2160A= (p.Ala720=) n.2529A= | |
| 13 | g.32336884A>C | CA483437265 | BRCA2 | c.2529A>C (p.Ala843=) c.2160A>C (p.Ala720=) n.2529A>C | dbSNP |
| 13 | g.32336884A>G | CA483437266 | BRCA2 | c.2529A>G (p.Ala843=) c.2160A>G (p.Ala720=) n.2529A>G | ClinVar dbSNP |
| 13 | g.32336884A>T | CA483437267 | BRCA2 | c.2529A>T (p.Ala843=) c.2160A>T (p.Ala720=) n.2529A>T | dbSNP |
| 13 | g.32336885T>A | CA387772483 | BRCA2 | c.2530T>A (p.Ser844Thr) c.2161T>A (p.Ser721Thr) n.2530T>A | dbSNP |
| 13 | g.32336885T>C | CA387772484 | BRCA2 | c.2530T>C (p.Ser844Pro) c.2161T>C (p.Ser721Pro) n.2530T>C | dbSNP |
| 13 | g.32336885T>G | CA387772485 | BRCA2 | c.2530T>G (p.Ser844Ala) c.2161T>G (p.Ser721Ala) n.2530T>G | dbSNP |
| 13 | g.32336885T= | CA2082809294 | BRCA2 | c.2530T= (p.Ser844=) c.2161T= (p.Ser721=) n.2530T= | |
| 13 | g.32336886C>A | CA387772486 | BRCA2 | c.2531C>A (p.Ser844Ter) c.2162C>A (p.Ser721Ter) n.2531C>A | dbSNP |
| 13 | g.32336886C>G | CA387772487 | BRCA2 | c.2531C>G (p.Ser844Ter) c.2162C>G (p.Ser721Ter) n.2531C>G | dbSNP |
| 13 | g.32336886C>T | CA387772488 | BRCA2 | c.2531C>T (p.Ser844Leu) c.2162C>T (p.Ser721Leu) n.2531C>T | dbSNP |
| 13 | g.32336886_32336887insCC | CA2082809296 | BRCA2 | c.2531_2532insCC (p.Pro845HisfsTer14) c.2162_2163insCC (p.Pro722HisfsTer14) n.2531_2532insCC | dbSNP |
| 13 | g.32336887A= | CA2082809301 | BRCA2 | c.2532A= (p.Ser844=) c.2163A= (p.Ser721=) n.2532A= | |
| 13 | g.32336887A>C | CA483437268 | BRCA2 | c.2532A>C (p.Ser844=) c.2163A>C (p.Ser721=) n.2532A>C | dbSNP gnomAD v4 |
| 13 | g.32336887A>G | CA483437269 | BRCA2 | c.2532A>G (p.Ser844=) c.2163A>G (p.Ser721=) n.2532A>G | dbSNP |
| 13 | g.32336887A>T | CA483437270 | BRCA2 | c.2532A>T (p.Ser844=) c.2163A>T (p.Ser721=) n.2532A>T | ClinVar dbSNP |
| 13 | g.32336888C>A | CA387772489 | BRCA2 | c.2533C>A (p.Pro845Thr) c.2164C>A (p.Pro722Thr) n.2533C>A | dbSNP |
| 13 | g.32336888C>G | CA387772490 | BRCA2 | c.2533C>G (p.Pro845Ala) c.2164C>G (p.Pro722Ala) n.2533C>G | dbSNP |
| 13 | g.32336888C>T | CA387772491 | BRCA2 | c.2533C>T (p.Pro845Ser) c.2164C>T (p.Pro722Ser) n.2533C>T | ClinVar dbSNP |
| 13 | g.32336888_32336889delinsGA | CA2499222107 | BRCA2 | c.2533_2534delinsGA (p.Pro845Asp) c.2164_2165delinsGA (p.Pro722Asp) n.2533_2534delinsGA | ClinVar dbSNP |
| 13 | g.32336889dup | CA2580087279 | BRCA2 | c.2534dup (p.Ser846PhefsTer?) c.2165dup (p.Ser723PhefsTer?) n.2534dup | ClinVar |
| 13 | g.32336889C>A | CA387772493 | BRCA2 | c.2534C>A (p.Pro845His) c.2165C>A (p.Pro722His) n.2534C>A | gnomAD v4 |
| 13 | g.32336889C= | CA2082809306 | BRCA2 | c.2534C= (p.Pro845=) c.2165C= (p.Pro722=) n.2534C= | |
| 13 | g.32336889C>G | CA387772494 | BRCA2 | c.2534C>G (p.Pro845Arg) c.2165C>G (p.Pro722Arg) n.2534C>G | |
| 13 | g.32336889C>T | CA387772492 | BRCA2 | c.2534C>T (p.Pro845Leu) c.2165C>T (p.Pro722Leu) n.2534C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336889_32336890dup | CA2580087280 | BRCA2 | c.2534_2535dup (p.Ser846LeufsTer13) c.2165_2166dup (p.Ser723LeufsTer13) n.2534_2535dup | ClinVar dbSNP |
| 13 | g.32336889_32336895delinsTTTAT | CA2580614655 | BRCA2 | c.2534_2540delinsTTTAT (p.Pro845LeufsTer?) c.2165_2171delinsTTTAT (p.Pro722LeufsTer?) n.2534_2540delinsTTTAT | ClinVar |
| 13 | g.32336890T>A | CA483437271 | BRCA2 | c.2535T>A (p.Pro845=) c.2166T>A (p.Pro722=) n.2535T>A | dbSNP |
| 13 | g.32336890T>C | CA483437272 | BRCA2 | c.2535T>C (p.Pro845=) c.2166T>C (p.Pro722=) n.2535T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336890T>G | CA6940611 | BRCA2 | c.2535T>G (p.Pro845=) c.2166T>G (p.Pro722=) n.2535T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336890T= | CA2082809313 | BRCA2 | c.2535T= (p.Pro845=) c.2166T= (p.Pro722=) n.2535T= | |
| 13 | g.32336890_32336893dup | CA2499222108 | BRCA2 | c.2535_2538dup (p.Arg847PhefsTer?) c.2166_2169dup (p.Arg724PhefsTer?) n.2535_2538dup | ClinVar dbSNP |
| 13 | g.32336891T>A | CA387772495 | BRCA2 | c.2536T>A (p.Ser846Thr) c.2167T>A (p.Ser723Thr) n.2536T>A | dbSNP |
| 13 | g.32336891T>C | CA247502495 | BRCA2 | c.2536T>C (p.Ser846Pro) c.2167T>C (p.Ser723Pro) n.2536T>C | dbSNP |
| 13 | g.32336891T>G | CA387772496 | BRCA2 | c.2536T>G (p.Ser846Ala) c.2167T>G (p.Ser723Ala) n.2536T>G | |
| 13 | g.32336891T= | CA2082809319 | BRCA2 | c.2536T= (p.Ser846=) c.2167T= (p.Ser723=) n.2536T= | |
| 13 | g.32336892C>A | CA387772497 | BRCA2 | c.2537C>A (p.Ser846Ter) c.2168C>A (p.Ser723Ter) n.2537C>A | dbSNP |
| 13 | g.32336892C= | CA2082809325 | BRCA2 | c.2537C= (p.Ser846=) c.2168C= (p.Ser723=) n.2537C= | |
| 13 | g.32336892C>G | CA015578 | BRCA2 | c.2537C>G (p.Ser846Ter) c.2168C>G (p.Ser723Ter) n.2537C>G | ClinVar dbSNP |
| 13 | g.32336892C>T | CA387772498 | BRCA2 | c.2537C>T (p.Ser846Leu) c.2168C>T (p.Ser723Leu) n.2537C>T | ClinVar dbSNP |
| 13 | g.32336893A= | CA2082809341 | BRCA2 | c.2538A= (p.Ser846=) c.2169A= (p.Ser723=) n.2538A= | |
| 13 | g.32336893A>C | CA015586 | BRCA2 | c.2538A>C (p.Ser846=) c.2169A>C (p.Ser723=) n.2538A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336893A>G | CA015594 | BRCA2 | c.2538A>G (p.Ser846=) c.2169A>G (p.Ser723=) n.2538A>G | ClinVar dbSNP |
| 13 | g.32336893A>T | CA483437275 | BRCA2 | c.2538A>T (p.Ser846=) c.2169A>T (p.Ser723=) n.2538A>T | dbSNP |
| 13 | g.32336894dup | CA10589162 | BRCA2 | c.2539dup (p.Arg847LysfsTer?) c.2170dup (p.Arg724LysfsTer?) n.2539dup | ClinVar dbSNP |
| 13 | g.32336894A= | CA2082809374 | BRCA2 | c.2539A= (p.Arg847=) c.2170A= (p.Arg724=) n.2539A= | |
| 13 | g.32336894A>C | CA483437276 | BRCA2 | c.2539A>C (p.Arg847=) c.2170A>C (p.Arg724=) n.2539A>C | |
| 13 | g.32336894A>G | CA387772499 | BRCA2 | c.2539A>G (p.Arg847Gly) c.2170A>G (p.Arg724Gly) n.2539A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336894A>T | CA10589161 | BRCA2 | c.2539A>T (p.Arg847Ter) c.2170A>T (p.Arg724Ter) n.2539A>T | ClinVar dbSNP |
| 13 | g.32336895G>A | CA16613862 | BRCA2 | c.2540G>A (p.Arg847Lys) c.2171G>A (p.Arg724Lys) n.2540G>A | ClinVar dbSNP |
| 13 | g.32336895G>C | CA387772500 | BRCA2 | c.2540G>C (p.Arg847Thr) c.2171G>C (p.Arg724Thr) n.2540G>C | dbSNP |
| 13 | g.32336895G= | CA2082809379 | BRCA2 | c.2540G= (p.Arg847=) c.2171G= (p.Arg724=) n.2540G= | |
| 13 | g.32336895G>T | CA387772501 | BRCA2 | c.2540G>T (p.Arg847Ile) c.2171G>T (p.Arg724Ile) n.2540G>T | |
| 13 | g.32336895_32336896delinsGA | CA2082809378 | BRCA2 | c.2540_2541delinsGA (p.Arg847=) c.2171_2172delinsGA (p.Arg724=) n.2540_2541delinsGA | |
| 13 | g.32336896A>C | CA387772502 | BRCA2 | c.2541A>C (p.Arg847Ser) c.2172A>C (p.Arg724Ser) n.2541A>C | |
| 13 | g.32336896A>G | CA483437277 | BRCA2 | c.2541A>G (p.Arg847=) c.2172A>G (p.Arg724=) n.2541A>G | dbSNP |
| 13 | g.32336896A>T | CA387772503 | BRCA2 | c.2541A>T (p.Arg847Ser) c.2172A>T (p.Arg724Ser) n.2541A>T | dbSNP |
| 13 | g.32336898del | CA1139663115 | BRCA2 | c.2543del (p.Lys848ArgfsTer10) c.2174del (p.Lys725ArgfsTer10) n.2543del | ClinVar dbSNP |
| 13 | g.32336897A>C | CA387772504 | BRCA2 | c.2542A>C (p.Lys848Gln) c.2173A>C (p.Lys725Gln) n.2542A>C | |
| 13 | g.32336897A>G | CA387772506 | BRCA2 | c.2542A>G (p.Lys848Glu) c.2173A>G (p.Lys725Glu) n.2542A>G | dbSNP |
| 13 | g.32336897A>T | CA387772505 | BRCA2 | c.2542A>T (p.Lys848Ter) c.2173A>T (p.Lys725Ter) n.2542A>T | dbSNP |
| 13 | g.32336898A= | CA2082809400 | BRCA2 | c.2543A= (p.Lys848=) c.2174A= (p.Lys725=) n.2543A= | |
| 13 | g.32336898A>C | CA387772507 | BRCA2 | c.2543A>C (p.Lys848Thr) c.2174A>C (p.Lys725Thr) n.2543A>C | |
| 13 | g.32336898A>G | CA387772508 | BRCA2 | c.2543A>G (p.Lys848Arg) c.2174A>G (p.Lys725Arg) n.2543A>G | ClinVar dbSNP |
| 13 | g.32336898A>T | CA387772509 | BRCA2 | c.2543A>T (p.Lys848Met) c.2174A>T (p.Lys725Met) n.2543A>T | dbSNP |
| 13 | g.32336898_32336899delinsAG | CA2082809398 | BRCA2 | c.2543_2544delinsAG (p.Lys848=) c.2174_2175delinsAG (p.Lys725=) n.2543_2544delinsAG | |
| 13 | g.32336899G>A | CA483437280 | BRCA2 | c.2544G>A (p.Lys848=) c.2175G>A (p.Lys725=) n.2544G>A | ClinVar dbSNP |
| 13 | g.32336899G>C | CA387772510 | BRCA2 | c.2544G>C (p.Lys848Asn) c.2175G>C (p.Lys725Asn) n.2544G>C | ClinVar dbSNP |
| 13 | g.32336899G= | CA2082809410 | BRCA2 | c.2544G= (p.Lys848=) c.2175G= (p.Lys725=) n.2544G= | |
| 13 | g.32336899G>T | CA247502516 | BRCA2 | c.2544G>T (p.Lys848Asn) c.2175G>T (p.Lys725Asn) n.2544G>T | dbSNP |
| 13 | g.32336900dup | CA2798719171 | BRCA2 | c.2545dup (p.Val849GlyfsTer?) c.2176dup (p.Val726GlyfsTer?) n.2545dup | |
| 13 | g.32336900del | CA015601 | BRCA2 | c.2545del (p.Val849TyrfsTer9) c.2176del (p.Val726TyrfsTer9) n.2545del | ClinVar dbSNP |
| 13 | g.32336900G>A | CA387772511 | BRCA2 | c.2545G>A (p.Val849Ile) c.2176G>A (p.Val726Ile) n.2545G>A | dbSNP |
| 13 | g.32336900G>C | CA387772512 | BRCA2 | c.2545G>C (p.Val849Leu) c.2176G>C (p.Val726Leu) n.2545G>C | dbSNP |
| 13 | g.32336900G= | CA2082809419 | BRCA2 | c.2545G= (p.Val849=) c.2176G= (p.Val726=) n.2545G= | |
| 13 | g.32336900G>T | CA015610 | BRCA2 | c.2545G>T (p.Val849Leu) c.2176G>T (p.Val726Leu) n.2545G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336901del | CA2580614657 | BRCA2 | c.2546del (p.Val849AspfsTer9) c.2177del (p.Val726AspfsTer9) n.2546del | ClinVar |
| 13 | g.32336901T>A | CA387772514 | BRCA2 | c.2546T>A (p.Val849Glu) c.2177T>A (p.Val726Glu) n.2546T>A | dbSNP |
| 13 | g.32336901T>C | CA387772515 | BRCA2 | c.2546T>C (p.Val849Ala) c.2177T>C (p.Val726Ala) n.2546T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.32336901T>G | CA387772513 | BRCA2 | c.2546T>G (p.Val849Gly) c.2177T>G (p.Val726Gly) n.2546T>G | ClinVar dbSNP |
| 13 | g.32336901T= | CA2082809431 | BRCA2 | c.2546T= (p.Val849=) c.2177T= (p.Val726=) n.2546T= | |
| 13 | g.32336902A= | CA2082809456 | BRCA2 | c.2547A= (p.Val849=) c.2178A= (p.Val726=) n.2547A= | |
| 13 | g.32336902A>C | CA483437282 | BRCA2 | c.2547A>C (p.Val849=) c.2178A>C (p.Val726=) n.2547A>C | dbSNP |
| 13 | g.32336902A>G | CA483437284 | BRCA2 | c.2547A>G (p.Val849=) c.2178A>G (p.Val726=) n.2547A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336902A>T | CA483437286 | BRCA2 | c.2547A>T (p.Val849=) c.2178A>T (p.Val726=) n.2547A>T | ClinVar dbSNP |
| 13 | g.32336903C>A | CA387772516 | BRCA2 | c.2548C>A (p.Gln850Lys) c.2179C>A (p.Gln727Lys) n.2548C>A | dbSNP |
| 13 | g.32336903C= | CA2082809460 | BRCA2 | c.2548C= (p.Gln850=) c.2179C= (p.Gln727=) n.2548C= | |
| 13 | g.32336903C>G | CA387772517 | BRCA2 | c.2548C>G (p.Gln850Glu) c.2179C>G (p.Gln727Glu) n.2548C>G | dbSNP |
| 13 | g.32336903C>T | CA10586502 | BRCA2 | c.2548C>T (p.Gln850Ter) c.2179C>T (p.Gln727Ter) n.2548C>T | ClinVar dbSNP |
| 13 | g.32336903_32336904insCC | CA2499222109 | BRCA2 | c.2548_2549insCC (p.Gln850ProfsTer9) c.2179_2180insCC (p.Gln727ProfsTer9) n.2548_2549insCC | ClinVar |
| 13 | g.32336903dup | CA658761167 | BRCA2 | c.2548dup (p.Gln850ProfsTer?) c.2179dup (p.Gln727ProfsTer?) n.2548dup | |
| 13 | g.32336906_32336910del | CA891842149 | BRCA2 | c.2551_2555del (p.Phe851ProfsTer28) c.2182_2186del (p.Phe728ProfsTer28) n.2551_2555del | ClinVar dbSNP |
| 13 | g.32336904A= | CA2082809469 | BRCA2 | c.2549A= (p.Gln850=) c.2180A= (p.Gln727=) n.2549A= | |
| 13 | g.32336904A>C | CA387772518 | BRCA2 | c.2549A>C (p.Gln850Pro) c.2180A>C (p.Gln727Pro) n.2549A>C | ClinVar dbSNP |
| 13 | g.32336904A>G | CA387772519 | BRCA2 | c.2549A>G (p.Gln850Arg) c.2180A>G (p.Gln727Arg) n.2549A>G | ClinVar dbSNP |
| 13 | g.32336904A>T | CA387772520 | BRCA2 | c.2549A>T (p.Gln850Leu) c.2180A>T (p.Gln727Leu) n.2549A>T | dbSNP |
| 13 | g.32336905A= | CA2082809475 | BRCA2 | c.2550A= (p.Gln850=) c.2181A= (p.Gln727=) n.2550A= | |
| 13 | g.32336905A>C | CA387772521 | BRCA2 | c.2550A>C (p.Gln850His) c.2181A>C (p.Gln727His) n.2550A>C | dbSNP |
| 13 | g.32336905A>G | CA015617 | BRCA2 | c.2550A>G (p.Gln850=) c.2181A>G (p.Gln727=) n.2550A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336905A>T | CA387772522 | BRCA2 | c.2550A>T (p.Gln850His) c.2181A>T (p.Gln727His) n.2550A>T | dbSNP |
| 13 | g.32336906T>A | CA387772523 | BRCA2 | c.2551T>A (p.Phe851Ile) c.2182T>A (p.Phe728Ile) n.2551T>A | dbSNP |
| 13 | g.32336906T>C | CA387772524 | BRCA2 | c.2551T>C (p.Phe851Leu) c.2182T>C (p.Phe728Leu) n.2551T>C | ClinVar |
| 13 | g.32336906T>G | CA387772525 | BRCA2 | c.2551T>G (p.Phe851Val) c.2182T>G (p.Phe728Val) n.2551T>G | |
| 13 | g.32336907T>A | CA387772527 | BRCA2 | c.2552T>A (p.Phe851Tyr) c.2183T>A (p.Phe728Tyr) n.2552T>A | dbSNP |
| 13 | g.32336907T>C | CA387772528 | BRCA2 | c.2552T>C (p.Phe851Ser) c.2183T>C (p.Phe728Ser) n.2552T>C | |
| 13 | g.32336907T>G | CA387772526 | BRCA2 | c.2552T>G (p.Phe851Cys) c.2183T>G (p.Phe728Cys) n.2552T>G | |
| 13 | g.32336907_32336908delinsTC | CA2082809479 | BRCA2 | c.2552_2553delinsTC (p.Phe851=) c.2183_2184delinsTC (p.Phe728=) n.2552_2553delinsTC | |
| 13 | g.32336908del | CA10589163 | BRCA2 | c.2553del (p.Phe851LeufsTer7) c.2184del (p.Phe728LeufsTer7) n.2553del | ClinVar dbSNP |
| 13 | g.32336908C>A | CA387772529 | BRCA2 | c.2553C>A (p.Phe851Leu) c.2184C>A (p.Phe728Leu) n.2553C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336908C= | CA2082809488 | BRCA2 | c.2553C= (p.Phe851=) c.2184C= (p.Phe728=) n.2553C= | |
| 13 | g.32336908C>G | CA387772530 | BRCA2 | c.2553C>G (p.Phe851Leu) c.2184C>G (p.Phe728Leu) n.2553C>G | dbSNP COSMIC COSMIC |
| 13 | g.32336908C>T | CA483437292 | BRCA2 | c.2553C>T (p.Phe851=) c.2184C>T (p.Phe728=) n.2553C>T | dbSNP gnomAD v4 |
| 13 | g.32336909A= | CA2082809499 | BRCA2 | c.2554A= (p.Asn852=) c.2185A= (p.Asn729=) n.2554A= | |
| 13 | g.32336909A>C | CA6940612 | BRCA2 | c.2554A>C (p.Asn852His) c.2185A>C (p.Asn729His) n.2554A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336909A>G | CA387772531 | BRCA2 | c.2554A>G (p.Asn852Asp) c.2185A>G (p.Asn729Asp) n.2554A>G | |
| 13 | g.32336909A>T | CA387772532 | BRCA2 | c.2554A>T (p.Asn852Tyr) c.2185A>T (p.Asn729Tyr) n.2554A>T | dbSNP |
| 13 | g.32336909_32336914delinsT | CA2580614658 | BRCA2 | c.2554_2559delinsT (p.Asn852Ter) c.2185_2190delinsT (p.Asn729Ter) n.2554_2559delinsT | ClinVar |
| 13 | g.32336910A= | CA2082809509 | BRCA2 | c.2555A= (p.Asn852=) c.2186A= (p.Asn729=) n.2555A= | |
| 13 | g.32336910A>C | CA387772533 | BRCA2 | c.2555A>C (p.Asn852Thr) c.2186A>C (p.Asn729Thr) n.2555A>C | |
| 13 | g.32336910A>G | CA015629 | BRCA2 | c.2555A>G (p.Asn852Ser) c.2186A>G (p.Asn729Ser) n.2555A>G | ClinVar dbSNP |
| 13 | g.32336910A>T | CA387772534 | BRCA2 | c.2555A>T (p.Asn852Ile) c.2186A>T (p.Asn729Ile) n.2555A>T | |
| 13 | g.32336911C>A | CA387772535 | BRCA2 | c.2556C>A (p.Asn852Lys) c.2187C>A (p.Asn729Lys) n.2556C>A | |
| 13 | g.32336911C= | CA2082809514 | BRCA2 | c.2556C= (p.Asn852=) c.2187C= (p.Asn729=) n.2556C= | |
| 13 | g.32336911C>G | CA387772536 | BRCA2 | c.2556C>G (p.Asn852Lys) c.2187C>G (p.Asn729Lys) n.2556C>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336911C>T | CA483437293 | BRCA2 | c.2556C>T (p.Asn852=) c.2187C>T (p.Asn729=) n.2556C>T | ClinVar dbSNP |
| 13 | g.32336912del | CA2727921436 | BRCA2 | c.2557del (p.Gln853LysfsTer5) c.2188del (p.Gln730LysfsTer5) n.2557del | dbSNP |
| 13 | g.32336911_32336912insATCAGATT | CA913188615 | BRCA2 | c.2556_2557insATCAGATT (p.Gln853IlefsTer8) c.2187_2188insATCAGATT (p.Gln730IlefsTer8) n.2556_2557insATCAGATT | ClinVar |
| 13 | g.32336912C>A | CA387772537 | BRCA2 | c.2557C>A (p.Gln853Lys) c.2188C>A (p.Gln730Lys) n.2557C>A | dbSNP |
| 13 | g.32336912C>G | CA387772538 | BRCA2 | c.2557C>G (p.Gln853Glu) c.2188C>G (p.Gln730Glu) n.2557C>G | dbSNP |
| 13 | g.32336912C>T | CA387772539 | BRCA2 | c.2557C>T (p.Gln853Ter) c.2188C>T (p.Gln730Ter) n.2557C>T | dbSNP |
| 13 | g.32336913A= | CA2082809518 | BRCA2 | c.2558A= (p.Gln853=) c.2189A= (p.Gln730=) n.2558A= | |
| 13 | g.32336913A>C | CA387772541 | BRCA2 | c.2558A>C (p.Gln853Pro) c.2189A>C (p.Gln730Pro) n.2558A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336913A>G | CA015641 | BRCA2 | c.2558A>G (p.Gln853Arg) c.2189A>G (p.Gln730Arg) n.2558A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336913A>T | CA387772540 | BRCA2 | c.2558A>T (p.Gln853Leu) c.2189A>T (p.Gln730Leu) n.2558A>T | |
| 13 | g.32336916dup | CA1139770849 | BRCA2 | c.2561dup (p.Asn854LysfsTer27) c.2192dup (p.Asn731LysfsTer27) n.2561dup | |
| 13 | g.32336914A>C | CA387772543 | BRCA2 | c.2559A>C (p.Gln853His) c.2190A>C (p.Gln730His) n.2559A>C | dbSNP |
| 13 | g.32336914A>G | CA483437294 | BRCA2 | c.2559A>G (p.Gln853=) c.2190A>G (p.Gln730=) n.2559A>G | |
| 13 | g.32336914A>T | CA387772542 | BRCA2 | c.2559A>T (p.Gln853His) c.2190A>T (p.Gln730His) n.2559A>T | dbSNP |
| 13 | g.32336915A= | CA2082809529 | BRCA2 | c.2560A= (p.Asn854=) c.2191A= (p.Asn731=) n.2560A= | |
| 13 | g.32336915A>C | CA387772544 | BRCA2 | c.2560A>C (p.Asn854His) c.2191A>C (p.Asn731His) n.2560A>C | |
| 13 | g.32336915A>G | CA387772545 | BRCA2 | c.2560A>G (p.Asn854Asp) c.2191A>G (p.Asn731Asp) n.2560A>G | ClinVar dbSNP |
| 13 | g.32336915A>T | CA387772546 | BRCA2 | c.2560A>T (p.Asn854Tyr) c.2191A>T (p.Asn731Tyr) n.2560A>T | dbSNP |
| 13 | g.32336915_32336917delinsAAC | CA2082809526 | BRCA2 | c.2560_2562delinsAAC (p.Asn854=) c.2191_2193delinsAAC (p.Asn731=) n.2560_2562delinsAAC | |
| 13 | g.32336916A= | CA2082809540 | BRCA2 | c.2561A= (p.Asn854=) c.2192A= (p.Asn731=) n.2561A= | |
| 13 | g.32336916A>C | CA387772547 | BRCA2 | c.2561A>C (p.Asn854Thr) c.2192A>C (p.Asn731Thr) n.2561A>C | |
| 13 | g.32336916A>G | CA015650 | BRCA2 | c.2561A>G (p.Asn854Ser) c.2192A>G (p.Asn731Ser) n.2561A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336916A>T | CA387772548 | BRCA2 | c.2561A>T (p.Asn854Ile) c.2192A>T (p.Asn731Ile) n.2561A>T | dbSNP |
| 13 | g.32336919_32336920del | CA015656 | BRCA2 | c.2564_2565del (p.Thr855LysfsTer25) c.2195_2196del (p.Thr732LysfsTer25) n.2564_2565del | ClinVar dbSNP |
| 13 | g.32336917del | CA2825002131 | BRCA2 | c.2562del (p.Asn854LysfsTer4) c.2193del (p.Asn731LysfsTer4) n.2562del | ClinVar |
| 13 | g.32336917C>A | CA387772549 | BRCA2 | c.2562C>A (p.Asn854Lys) c.2193C>A (p.Asn731Lys) n.2562C>A | dbSNP |
| 13 | g.32336917C= | CA2082809553 | BRCA2 | c.2562C= (p.Asn854=) c.2193C= (p.Asn731=) n.2562C= | |
| 13 | g.32336917C>G | CA387772550 | BRCA2 | c.2562C>G (p.Asn854Lys) c.2193C>G (p.Asn731Lys) n.2562C>G | dbSNP gnomAD v4 |
| 13 | g.32336917C>T | CA483437295 | BRCA2 | c.2562C>T (p.Asn854=) c.2193C>T (p.Asn731=) n.2562C>T | ClinVar dbSNP |
| 13 | g.32336918A= | CA2082809562 | BRCA2 | c.2563A= (p.Thr855=) c.2194A= (p.Thr732=) n.2563A= | |
| 13 | g.32336918A>C | CA387772551 | BRCA2 | c.2563A>C (p.Thr855Pro) c.2194A>C (p.Thr732Pro) n.2563A>C | dbSNP |
| 13 | g.32336918A>G | CA387772552 | BRCA2 | c.2563A>G (p.Thr855Ala) c.2194A>G (p.Thr732Ala) n.2563A>G | ClinVar dbSNP |
| 13 | g.32336918A>T | CA387772553 | BRCA2 | c.2563A>T (p.Thr855Ser) c.2194A>T (p.Thr732Ser) n.2563A>T | dbSNP |
| 13 | g.32336919del | CA2798719180 | BRCA2 | c.2564del (p.Thr855LysfsTer3) c.2195del (p.Thr732LysfsTer3) n.2564del | |
| 13 | g.32336919C>A | CA387772556 | BRCA2 | c.2564C>A (p.Thr855Lys) c.2195C>A (p.Thr732Lys) n.2564C>A | |
| 13 | g.32336919C>G | CA387772554 | BRCA2 | c.2564C>G (p.Thr855Arg) c.2195C>G (p.Thr732Arg) n.2564C>G | ClinVar dbSNP |
| 13 | g.32336919C>T | CA387772555 | BRCA2 | c.2564C>T (p.Thr855Ile) c.2195C>T (p.Thr732Ile) n.2564C>T | |
| 13 | g.32336920A>C | CA483437298 | BRCA2 | c.2565A>C (p.Thr855=) c.2196A>C (p.Thr732=) n.2565A>C | |
| 13 | g.32336920A>G | CA483437296 | BRCA2 | c.2565A>G (p.Thr855=) c.2196A>G (p.Thr732=) n.2565A>G | dbSNP |
| 13 | g.32336920A>T | CA483437297 | BRCA2 | c.2565A>T (p.Thr855=) c.2196A>T (p.Thr732=) n.2565A>T | dbSNP |
| 13 | g.32336921A>C | CA387772557 | BRCA2 | c.2566A>C (p.Asn856His) c.2197A>C (p.Asn733His) n.2566A>C | ClinVar dbSNP |
| 13 | g.32336921A>G | CA387772558 | BRCA2 | c.2566A>G (p.Asn856Asp) c.2197A>G (p.Asn733Asp) n.2566A>G | dbSNP |
| 13 | g.32336921A>T | CA387772559 | BRCA2 | c.2566A>T (p.Asn856Tyr) c.2197A>T (p.Asn733Tyr) n.2566A>T | dbSNP COSMIC COSMIC |
| 13 | g.32336922A>C | CA387772560 | BRCA2 | c.2567A>C (p.Asn856Thr) c.2198A>C (p.Asn733Thr) n.2567A>C | |
| 13 | g.32336922A>G | CA387772561 | BRCA2 | c.2567A>G (p.Asn856Ser) c.2198A>G (p.Asn733Ser) n.2567A>G | ClinVar |
| 13 | g.32336922A>T | CA387772562 | BRCA2 | c.2567A>T (p.Asn856Ile) c.2198A>T (p.Asn733Ile) n.2567A>T | dbSNP |
| 13 | g.32336923T>A | CA387772563 | BRCA2 | c.2568T>A (p.Asn856Lys) c.2199T>A (p.Asn733Lys) n.2568T>A | ClinVar dbSNP |
| 13 | g.32336923T>C | CA483437299 | BRCA2 | c.2568T>C (p.Asn856=) c.2199T>C (p.Asn733=) n.2568T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336923T>G | CA387772564 | BRCA2 | c.2568T>G (p.Asn856Lys) c.2199T>G (p.Asn733Lys) n.2568T>G | |
| 13 | g.32336923T= | CA2082809569 | BRCA2 | c.2568T= (p.Asn856=) c.2199T= (p.Asn733=) n.2568T= | |
| 13 | g.32336924C>A | CA387772565 | BRCA2 | c.2569C>A (p.Leu857Ile) c.2200C>A (p.Leu734Ile) n.2569C>A | dbSNP |
| 13 | g.32336924C= | CA2082809584 | BRCA2 | c.2569C= (p.Leu857=) c.2200C= (p.Leu734=) n.2569C= | |
| 13 | g.32336924C>G | CA387772566 | BRCA2 | c.2569C>G (p.Leu857Val) c.2200C>G (p.Leu734Val) n.2569C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336924C>T | CA6940613 | BRCA2 | c.2569C>T (p.Leu857=) c.2200C>T (p.Leu734=) n.2569C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336925T>A | CA387772568 | BRCA2 | c.2570T>A (p.Leu857Gln) c.2201T>A (p.Leu734Gln) n.2570T>A | |
| 13 | g.32336925T>C | CA387772569 | BRCA2 | c.2570T>C (p.Leu857Pro) c.2201T>C (p.Leu734Pro) n.2570T>C | |
| 13 | g.32336925T>G | CA387772567 | BRCA2 | c.2570T>G (p.Leu857Arg) c.2201T>G (p.Leu734Arg) n.2570T>G | |
| 13 | g.32336925dup | CA167960 | BRCA2 | c.2570dup (p.Arg858LysfsTer23) c.2201dup (p.Arg735LysfsTer23) n.2570dup | ClinVar dbSNP |
| 13 | g.32336926A= | CA2082809592 | BRCA2 | c.2571A= (p.Leu857=) c.2202A= (p.Leu734=) n.2571A= | |
| 13 | g.32336926A>C | CA483437300 | BRCA2 | c.2571A>C (p.Leu857=) c.2202A>C (p.Leu734=) n.2571A>C | |
| 13 | g.32336926A>G | CA483437302 | BRCA2 | c.2571A>G (p.Leu857=) c.2202A>G (p.Leu734=) n.2571A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336926A>T | CA483437301 | BRCA2 | c.2571A>T (p.Leu857=) c.2202A>T (p.Leu734=) n.2571A>T | dbSNP |
| 13 | g.32336927A= | CA2082809595 | BRCA2 | c.2572A= (p.Arg858=) c.2203A= (p.Arg735=) n.2572A= | |
| 13 | g.32336927A>C | CA483437303 | BRCA2 | c.2572A>C (p.Arg858=) c.2203A>C (p.Arg735=) n.2572A>C | |
| 13 | g.32336927A>G | CA015667 | BRCA2 | c.2572A>G (p.Arg858Gly) c.2203A>G (p.Arg735Gly) n.2572A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336927A>T | CA387772570 | BRCA2 | c.2572A>T (p.Arg858Ter) c.2203A>T (p.Arg735Ter) n.2572A>T | dbSNP |
| 13 | g.32336928G>A | CA387772571 | BRCA2 | c.2573G>A (p.Arg858Lys) c.2204G>A (p.Arg735Lys) n.2573G>A | ClinVar dbSNP |
| 13 | g.32336928G>C | CA387772572 | BRCA2 | c.2573G>C (p.Arg858Thr) c.2204G>C (p.Arg735Thr) n.2573G>C | ClinVar dbSNP |
| 13 | g.32336928G>T | CA387772573 | BRCA2 | c.2573G>T (p.Arg858Ile) c.2204G>T (p.Arg735Ile) n.2573G>T | ClinVar dbSNP |
| 13 | g.32336929A= | CA2082809608 | BRCA2 | c.2574A= (p.Arg858=) c.2205A= (p.Arg735=) n.2574A= | |
| 13 | g.32336929A>C | CA387772574 | BRCA2 | c.2574A>C (p.Arg858Ser) c.2205A>C (p.Arg735Ser) n.2574A>C | ClinVar dbSNP |
| 13 | g.32336929A>G | CA483437304 | BRCA2 | c.2574A>G (p.Arg858=) c.2205A>G (p.Arg735=) n.2574A>G | ClinVar dbSNP |
| 13 | g.32336929A>T | CA387772575 | BRCA2 | c.2574A>T (p.Arg858Ser) c.2205A>T (p.Arg735Ser) n.2574A>T | dbSNP |
| 13 | g.32336929dup | CA2499222110 | BRCA2 | c.2574dup (p.Val859SerfsTer22) c.2205dup (p.Val736SerfsTer22) n.2574dup | |
| 13 | g.32336930G>A | CA387772576 | BRCA2 | c.2575G>A (p.Val859Ile) c.2206G>A (p.Val736Ile) n.2575G>A | dbSNP gnomAD v4 |
| 13 | g.32336930G>C | CA387772577 | BRCA2 | c.2575G>C (p.Val859Leu) c.2206G>C (p.Val736Leu) n.2575G>C | dbSNP gnomAD v4 |
| 13 | g.32336930G>T | CA387772578 | BRCA2 | c.2575G>T (p.Val859Leu) c.2206G>T (p.Val736Leu) n.2575G>T |