OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32355232dup | CA913188635 | BRCA2 | c.7379dup (p.Asn2460LysfsTer15) c.7010dup (p.Asn2337LysfsTer15) n.7379dup c.7283dup (p.Asn2428LysfsTer15) | ClinVar dbSNP |
| 13 | g.32355232del | CA025050 | BRCA2 | c.7379del (p.Asn2460ThrfsTer7) c.7010del (p.Asn2337ThrfsTer7) n.7379del c.7379del (p.Asn2460ThrfsTer9) c.7283del (p.Asn2428ThrfsTer7) | ClinVar dbSNP |
| 13 | g.32355229_32355233delinsAAAAC | CA2082811385 | BRCA2 | c.7376_7380delinsAAAAC (p.Lys2459=) c.7007_7011delinsAAAAC (p.Lys2336=) n.7376_7380delinsAAAAC c.7280_7284delinsAAAAC (p.Lys2427=) | |
| 13 | g.32355230_32355233delinsAAAC | CA2082811398 | BRCA2 | c.7377_7380delinsAAAC (p.Lys2459=) c.7008_7011delinsAAAC (p.Lys2336=) n.7377_7380delinsAAAC c.7281_7284delinsAAAC (p.Lys2427=) | |
| 13 | g.32355232_32355235del | CA025048 | BRCA2 | c.7379_7382del (p.Asn2460ThrfsTer6) c.7010_7013del (p.Asn2337ThrfsTer6) n.7379_7382del c.7379_7382del (p.Asn2460ThrfsTer8) c.7283_7286del (p.Asn2428ThrfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355234_32355236del | CA915946865 | BRCA2 | c.7381_7383del (p.Asn2461del) c.7012_7014del (p.Asn2338del) n.7381_7383del c.7285_7287del (p.Asn2429del) | ClinVar dbSNP |
| 13 | g.32355232A= | CA2082811431 | BRCA2 | c.7379A= (p.Asn2460=) c.7010A= (p.Asn2337=) n.7379A= c.7283A= (p.Asn2428=) | |
| 13 | g.32355232A>C | CA387741660 | BRCA2 | c.7379A>C (p.Asn2460Thr) c.7010A>C (p.Asn2337Thr) n.7379A>C c.7283A>C (p.Asn2428Thr) | dbSNP |
| 13 | g.32355232A>G | CA387741667 | BRCA2 | c.7379A>G (p.Asn2460Ser) c.7010A>G (p.Asn2337Ser) n.7379A>G c.7283A>G (p.Asn2428Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355232A>T | CA387741665 | BRCA2 | c.7379A>T (p.Asn2460Ile) c.7010A>T (p.Asn2337Ile) n.7379A>T c.7283A>T (p.Asn2428Ile) | dbSNP |
| 13 | g.32355232_32355233insG | CA025047 | BRCA2 | c.7379_7380insG (p.Asn2460LysfsTer15) c.7010_7011insG (p.Asn2337LysfsTer15) n.7379_7380insG c.7283_7284insG (p.Asn2428LysfsTer15) | ClinVar dbSNP |
| 13 | g.32355233C>A | CA387741686 | BRCA2 | c.7380C>A (p.Asn2460Lys) c.7011C>A (p.Asn2337Lys) n.7380C>A c.7284C>A (p.Asn2428Lys) | |
| 13 | g.32355233C= | CA2082811453 | BRCA2 | c.7380C= (p.Asn2460=) c.7011C= (p.Asn2337=) n.7380C= c.7284C= (p.Asn2428=) | |
| 13 | g.32355233C>G | CA387741685 | BRCA2 | c.7380C>G (p.Asn2460Lys) c.7011C>G (p.Asn2337Lys) n.7380C>G c.7284C>G (p.Asn2428Lys) | |
| 13 | g.32355233C>T | CA483439500 | BRCA2 | c.7380C>T (p.Asn2460=) c.7011C>T (p.Asn2337=) n.7380C>T c.7284C>T (p.Asn2428=) | |
| 13 | g.32355233_32355234delinsCA | CA2082811456 | BRCA2 | c.7380_7381delinsCA (p.Asn2460=) c.7011_7012delinsCA (p.Asn2337=) n.7380_7381delinsCA c.7284_7285delinsCA (p.Asn2428=) | |
| 13 | g.32355233_32355234insG | CA025051 | BRCA2 | c.7380_7381insG (p.Asn2461GlufsTer14) c.7011_7012insG (p.Asn2338GlufsTer14) n.7380_7381insG c.7284_7285insG (p.Asn2429GlufsTer14) | ClinVar dbSNP |
| 13 | g.32355234A>C | CA387741694 | BRCA2 | c.7381A>C (p.Asn2461His) c.7012A>C (p.Asn2338His) n.7381A>C c.7285A>C (p.Asn2429His) | |
| 13 | g.32355234A>G | CA387741698 | BRCA2 | c.7381A>G (p.Asn2461Asp) c.7012A>G (p.Asn2338Asp) n.7381A>G c.7285A>G (p.Asn2429Asp) | ClinVar dbSNP |
| 13 | g.32355234A>T | CA387741705 | BRCA2 | c.7381A>T (p.Asn2461Tyr) c.7012A>T (p.Asn2338Tyr) n.7381A>T c.7285A>T (p.Asn2429Tyr) | dbSNP |
| 13 | g.32355235del | CA10586573 | BRCA2 | c.7382del (p.Asn2461ThrfsTer6) c.7013del (p.Asn2338ThrfsTer6) n.7382del c.7382del (p.Asn2461ThrfsTer8) c.7286del (p.Asn2429ThrfsTer6) | ClinVar dbSNP |
| 13 | g.32355235A= | CA2082811470 | BRCA2 | c.7382A= (p.Asn2461=) c.7013A= (p.Asn2338=) n.7382A= c.7286A= (p.Asn2429=) | |
| 13 | g.32355235A>C | CA387741709 | BRCA2 | c.7382A>C (p.Asn2461Thr) c.7013A>C (p.Asn2338Thr) n.7382A>C c.7286A>C (p.Asn2429Thr) | dbSNP |
| 13 | g.32355235A>G | CA387741718 | BRCA2 | c.7382A>G (p.Asn2461Ser) c.7013A>G (p.Asn2338Ser) n.7382A>G c.7286A>G (p.Asn2429Ser) | ClinVar dbSNP |
| 13 | g.32355235A>T | CA387741720 | BRCA2 | c.7382A>T (p.Asn2461Ile) c.7013A>T (p.Asn2338Ile) n.7382A>T c.7286A>T (p.Asn2429Ile) | dbSNP |
| 13 | g.32355236C>A | CA387741722 | BRCA2 | c.7383C>A (p.Asn2461Lys) c.7014C>A (p.Asn2338Lys) n.7383C>A c.7287C>A (p.Asn2429Lys) | dbSNP |
| 13 | g.32355236C>G | CA387741723 | BRCA2 | c.7383C>G (p.Asn2461Lys) c.7014C>G (p.Asn2338Lys) n.7383C>G c.7287C>G (p.Asn2429Lys) | dbSNP |
| 13 | g.32355236C>T | CA483439501 | BRCA2 | c.7383C>T (p.Asn2461=) c.7014C>T (p.Asn2338=) n.7383C>T c.7287C>T (p.Asn2429=) | ClinVar dbSNP |
| 13 | g.32355237T>A | CA387741728 | BRCA2 | c.7384T>A (p.Ser2462Thr) c.7015T>A (p.Ser2339Thr) n.7384T>A c.7288T>A (p.Ser2430Thr) | ClinVar dbSNP |
| 13 | g.32355237T>C | CA387741731 | BRCA2 | c.7384T>C (p.Ser2462Pro) c.7015T>C (p.Ser2339Pro) n.7384T>C c.7288T>C (p.Ser2430Pro) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355237T>G | CA387741734 | BRCA2 | c.7384T>G (p.Ser2462Ala) c.7015T>G (p.Ser2339Ala) n.7384T>G c.7288T>G (p.Ser2430Ala) | |
| 13 | g.32355237T= | CA2082811473 | BRCA2 | c.7384T= (p.Ser2462=) c.7015T= (p.Ser2339=) n.7384T= c.7288T= (p.Ser2430=) | |
| 13 | g.32355238C>A | CA387741735 | BRCA2 | c.7385C>A (p.Ser2462Tyr) c.7016C>A (p.Ser2339Tyr) n.7385C>A c.7289C>A (p.Ser2430Tyr) | dbSNP |
| 13 | g.32355238C>G | CA387741736 | BRCA2 | c.7385C>G (p.Ser2462Cys) c.7016C>G (p.Ser2339Cys) n.7385C>G c.7289C>G (p.Ser2430Cys) | ClinVar dbSNP |
| 13 | g.32355238C>T | CA387741737 | BRCA2 | c.7385C>T (p.Ser2462Phe) c.7016C>T (p.Ser2339Phe) n.7385C>T c.7289C>T (p.Ser2430Phe) | ClinVar dbSNP |
| 13 | g.32355239del | CA2580087443 | BRCA2 | c.7386del (p.Asn2463IlefsTer4) c.7017del (p.Asn2340IlefsTer4) n.7386del c.7386del (p.Asn2463IlefsTer6) c.7290del (p.Asn2431IlefsTer4) | ClinVar |
| 13 | g.32355238_32355242delinsCCAAT | CA2082811478 | BRCA2 | c.7385_7389delinsCCAAT (p.Ser2462=) c.7016_7020delinsCCAAT (p.Ser2339=) n.7385_7389delinsCCAAT c.7289_7293delinsCCAAT (p.Ser2430=) | |
| 13 | g.32355239C>A | CA483439503 | BRCA2 | c.7386C>A (p.Ser2462=) c.7017C>A (p.Ser2339=) n.7386C>A c.7290C>A (p.Ser2430=) | dbSNP gnomAD v4 |
| 13 | g.32355239C>G | CA483439504 | BRCA2 | c.7386C>G (p.Ser2462=) c.7017C>G (p.Ser2339=) n.7386C>G c.7290C>G (p.Ser2430=) | dbSNP |
| 13 | g.32355239C>T | CA483439505 | BRCA2 | c.7386C>T (p.Ser2462=) c.7017C>T (p.Ser2339=) n.7386C>T c.7290C>T (p.Ser2430=) | ClinVar dbSNP |
| 13 | g.32355239_32355240delinsCA | CA2082811494 | BRCA2 | c.7386_7387delinsCA (p.Ser2462=) c.7017_7018delinsCA (p.Ser2339=) n.7386_7387delinsCA c.7290_7291delinsCA (p.Ser2430=) | |
| 13 | g.32355242_32355245del | CA10589426 | BRCA2 | c.7389_7392del (p.Asn2463LysfsTer3) c.7020_7023del (p.Asn2340LysfsTer3) n.7389_7392del c.7389_7392del (p.Asn2463LysfsTer5) c.7293_7296del (p.Asn2431LysfsTer3) | ClinVar dbSNP |
| 13 | g.32355240A>C | CA387741747 | BRCA2 | c.7387A>C (p.Asn2463His) c.7018A>C (p.Asn2340His) n.7387A>C c.7291A>C (p.Asn2431His) | |
| 13 | g.32355240A>G | CA387741744 | BRCA2 | c.7387A>G (p.Asn2463Asp) c.7018A>G (p.Asn2340Asp) n.7387A>G c.7291A>G (p.Asn2431Asp) | dbSNP gnomAD v4 |
| 13 | g.32355240A>T | CA387741740 | BRCA2 | c.7387A>T (p.Asn2463Tyr) c.7018A>T (p.Asn2340Tyr) n.7387A>T c.7291A>T (p.Asn2431Tyr) | dbSNP |
| 13 | g.32355241del | CA658823739 | BRCA2 | c.7388del (p.Asn2463IlefsTer4) c.7019del (p.Asn2340IlefsTer4) n.7388del c.7388del (p.Asn2463IlefsTer6) c.7292del (p.Asn2431IlefsTer4) | ClinVar dbSNP |
| 13 | g.32355241A= | CA2082811503 | BRCA2 | c.7388A= (p.Asn2463=) c.7019A= (p.Asn2340=) n.7388A= c.7292A= (p.Asn2431=) | |
| 13 | g.32355241A>C | CA387741755 | BRCA2 | c.7388A>C (p.Asn2463Thr) c.7019A>C (p.Asn2340Thr) n.7388A>C c.7292A>C (p.Asn2431Thr) | |
| 13 | g.32355241A>G | CA387741749 | BRCA2 | c.7388A>G (p.Asn2463Ser) c.7019A>G (p.Asn2340Ser) n.7388A>G c.7292A>G (p.Asn2431Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355241A>T | CA387741752 | BRCA2 | c.7388A>T (p.Asn2463Ile) c.7019A>T (p.Asn2340Ile) n.7388A>T c.7292A>T (p.Asn2431Ile) | ClinVar dbSNP |
| 13 | g.32355241_32355242insAAACCAAACACACCCAAC | CA2798720708 | BRCA2 | c.7388_7389insAAACCAAACACACCCAAC (p.Asn2463delinsLysAsnGlnThrHisProThr) c.7019_7020insAAACCAAACACACCCAAC (p.Asn2340delinsLysAsnGlnThrHisProThr) n.7388_7389insAAACCAAACACACCCAAC c.7292_7293insAAACCAAACACACCCAAC (p.Asn2431delinsLysAsnGlnThrHisProThr) | |
| 13 | g.32355242T>A | CA387741756 | BRCA2 | c.7389T>A (p.Asn2463Lys) c.7020T>A (p.Asn2340Lys) n.7389T>A c.7293T>A (p.Asn2431Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355242T>C | CA483439509 | BRCA2 | c.7389T>C (p.Asn2463=) c.7020T>C (p.Asn2340=) n.7389T>C c.7293T>C (p.Asn2431=) | COSMIC COSMIC |
| 13 | g.32355242T>G | CA387741757 | BRCA2 | c.7389T>G (p.Asn2463Lys) c.7020T>G (p.Asn2340Lys) n.7389T>G c.7293T>G (p.Asn2431Lys) | |
| 13 | g.32355242T= | CA2082811515 | BRCA2 | c.7389T= (p.Asn2463=) c.7020T= (p.Asn2340=) n.7389T= c.7293T= (p.Asn2431=) | |
| 13 | g.32355243C>A | CA387741758 | BRCA2 | c.7390C>A (p.Gln2464Lys) c.7021C>A (p.Gln2341Lys) n.7390C>A c.7294C>A (p.Gln2432Lys) | dbSNP |
| 13 | g.32355243C= | CA2082811541 | BRCA2 | c.7390C= (p.Gln2464=) c.7021C= (p.Gln2341=) n.7390C= c.7294C= (p.Gln2432=) | |
| 13 | g.32355243C>G | CA6941087 | BRCA2 | c.7390C>G (p.Gln2464Glu) c.7021C>G (p.Gln2341Glu) n.7390C>G c.7294C>G (p.Gln2432Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355243C>T | CA387741762 | BRCA2 | c.7390C>T (p.Gln2464Ter) c.7021C>T (p.Gln2341Ter) n.7390C>T c.7294C>T (p.Gln2432Ter) | ClinVar dbSNP |
| 13 | g.32355244A>C | CA387741763 | BRCA2 | c.7391A>C (p.Gln2464Pro) c.7022A>C (p.Gln2341Pro) n.7391A>C c.7295A>C (p.Gln2432Pro) | |
| 13 | g.32355244A>G | CA387741764 | BRCA2 | c.7391A>G (p.Gln2464Arg) c.7022A>G (p.Gln2341Arg) n.7391A>G c.7295A>G (p.Gln2432Arg) | |
| 13 | g.32355244A>T | CA387741765 | BRCA2 | c.7391A>T (p.Gln2464Leu) c.7022A>T (p.Gln2341Leu) n.7391A>T c.7295A>T (p.Gln2432Leu) | |
| 13 | g.32355245A= | CA2082811562 | BRCA2 | c.7392A= (p.Gln2464=) c.7023A= (p.Gln2341=) n.7392A= c.7296A= (p.Gln2432=) | |
| 13 | g.32355245A>C | CA387741767 | BRCA2 | c.7392A>C (p.Gln2464His) c.7023A>C (p.Gln2341His) n.7392A>C c.7296A>C (p.Gln2432His) | ClinVar dbSNP |
| 13 | g.32355245A>G | CA483439512 | BRCA2 | c.7392A>G (p.Gln2464=) c.7023A>G (p.Gln2341=) n.7392A>G c.7296A>G (p.Gln2432=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355245A>T | CA387741770 | BRCA2 | c.7392A>T (p.Gln2464His) c.7023A>T (p.Gln2341His) n.7392A>T c.7296A>T (p.Gln2432His) | dbSNP |
| 13 | g.32355245_32355246delinsAG | CA2082811564 | BRCA2 | c.7392_7393delinsAG (p.Gln2464=) c.7023_7024delinsAG (p.Gln2341=) n.7392_7393delinsAG c.7296_7297delinsAG (p.Gln2432=) | |
| 13 | g.32355246del | CA915946866 | BRCA2 | c.7393del (p.Ala2465GlnfsTer2) c.7024del (p.Ala2342GlnfsTer2) n.7393del c.7393del (p.Ala2465GlnfsTer4) c.7297del (p.Ala2433GlnfsTer2) | ClinVar dbSNP |
| 13 | g.32355246G>A | CA387741776 | BRCA2 | c.7393G>A (p.Ala2465Thr) c.7024G>A (p.Ala2342Thr) n.7393G>A c.7297G>A (p.Ala2433Thr) | ClinVar dbSNP |
| 13 | g.32355246G>C | CA387741780 | BRCA2 | c.7393G>C (p.Ala2465Pro) c.7024G>C (p.Ala2342Pro) n.7393G>C c.7297G>C (p.Ala2433Pro) | |
| 13 | g.32355246G= | CA2082811577 | BRCA2 | c.7393G= (p.Ala2465=) c.7024G= (p.Ala2342=) n.7393G= c.7297G= (p.Ala2433=) | |
| 13 | g.32355246G>T | CA387741773 | BRCA2 | c.7393G>T (p.Ala2465Ser) c.7024G>T (p.Ala2342Ser) n.7393G>T c.7297G>T (p.Ala2433Ser) | |
| 13 | g.32355247C>A | CA387741782 | BRCA2 | c.7394C>A (p.Ala2465Glu) c.7025C>A (p.Ala2342Glu) n.7394C>A c.7298C>A (p.Ala2433Glu) | dbSNP |
| 13 | g.32355247C= | CA2082811593 | BRCA2 | c.7394C= (p.Ala2465=) c.7025C= (p.Ala2342=) n.7394C= c.7298C= (p.Ala2433=) | |
| 13 | g.32355247C>G | CA387741784 | BRCA2 | c.7394C>G (p.Ala2465Gly) c.7025C>G (p.Ala2342Gly) n.7394C>G c.7298C>G (p.Ala2433Gly) | dbSNP |
| 13 | g.32355247C>T | CA025052 | BRCA2 | c.7394C>T (p.Ala2465Val) c.7025C>T (p.Ala2342Val) n.7394C>T c.7298C>T (p.Ala2433Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355248A>C | CA483439514 | BRCA2 | c.7395A>C (p.Ala2465=) c.7026A>C (p.Ala2342=) n.7395A>C c.7299A>C (p.Ala2433=) | ClinVar |
| 13 | g.32355248A>G | CA483439516 | BRCA2 | c.7395A>G (p.Ala2465=) c.7026A>G (p.Ala2342=) n.7395A>G c.7299A>G (p.Ala2433=) | |
| 13 | g.32355248A>T | CA483439515 | BRCA2 | c.7395A>T (p.Ala2465=) c.7026A>T (p.Ala2342=) n.7395A>T c.7299A>T (p.Ala2433=) | |
| 13 | g.32355248_32355249delinsAG | CA2082811611 | BRCA2 | c.7395_7396delinsAG (p.Ala2465=) c.7026_7027delinsAG (p.Ala2342=) n.7395_7396delinsAG c.7299_7300delinsAG (p.Ala2433=) | |
| 13 | g.32355249del | CA1139663181 | BRCA2 | c.7396del (p.Val2466Ter) c.7027del (p.Val2343Ter) n.7396del c.7396del (p.Ala2466GlnfsTer3) c.7300del (p.Val2434Ter) | ClinVar dbSNP |
| 13 | g.32355249G>A | CA387741791 | BRCA2 | c.7396G>A (p.Val2466Ile) c.7027G>A (p.Val2343Ile) n.7396G>A c.7396G>A (p.Ala2466Thr) c.7300G>A (p.Val2434Ile) | dbSNP gnomAD v4 |
| 13 | g.32355249G>C | CA387741796 | BRCA2 | c.7396G>C (p.Val2466Leu) c.7027G>C (p.Val2343Leu) n.7396G>C c.7396G>C (p.Ala2466Pro) c.7300G>C (p.Val2434Leu) | |
| 13 | g.32355249G= | CA2082811618 | BRCA2 | c.7396G= (p.Val2466=) c.7027G= (p.Val2343=) n.7396G= c.7396G= (p.Ala2466=) c.7300G= (p.Val2434=) | |
| 13 | g.32355249G>T | CA387741800 | BRCA2 | c.7396G>T (p.Val2466Leu) c.7027G>T (p.Val2343Leu) n.7396G>T c.7396G>T (p.Ala2466Ser) c.7300G>T (p.Val2434Leu) | |
| 13 | g.32355250T>A | CA387741819 | BRCA2 | c.7397T>A (p.Val2466Glu) c.7028T>A (p.Val2343Glu) n.7397T>A c.7301T>A (p.Val2434Glu) | gnomAD v4 |
| 13 | g.32355250T>C | CA157623 | BRCA2 | c.7397T>C (p.Val2466Ala) c.7028T>C (p.Val2343Ala) n.7397T>C c.7301T>C (p.Val2434Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355250T>G | CA387741814 | BRCA2 | c.7397T>G (p.Val2466Gly) c.7028T>G (p.Val2343Gly) n.7397T>G c.7301T>G (p.Val2434Gly) | |
| 13 | g.32355250T= | CA025053 | BRCA2 | c.7397T= (p.Val2466=) c.7028T= (p.Val2343=) n.7397T= c.7301T= (p.Val2434=) | |
| 13 | g.32355250_32355251delinsCG | CA2499222281 | BRCA2 | c.7397_7398delinsCG (p.Val2466Ala) c.7028_7029delinsCG (p.Val2343Ala) n.7397_7398delinsCG c.7301_7302delinsCG (p.Val2434Ala) | ClinVar dbSNP |
| 13 | g.32355250_32355251delinsCT | CA2739277510 | BRCA2 | c.7397_7398delinsCT (p.Val2466Ala) c.7028_7029delinsCT (p.Val2343Ala) n.7397_7398delinsCT c.7301_7302delinsCT (p.Val2434Ala) | ClinVar |
| 13 | g.32355250_32355259delinsCAGCTGTAACT | CA2695217924 | BRCA2 | c.7397_7406delinsCAGCTGTAACT (p.Val2466AlafsTer9) c.7028_7037delinsCAGCTGTAACT (p.Val2343AlafsTer9) n.7397_7406delinsCAGCTGTAACT c.7301_7310delinsCAGCTGTAACT (p.Val2434AlafsTer9) | |
| 13 | g.32355250_32355251insGTAACTTTCACAAAGTTAAAAACAACTCCAATCAAGCAGC | CA954696355 | BRCA2 | c.7397_7398insGTAACTTTCACAAAGTTAAAAACAACTCCAATCAAGCAGC (p.Ala2467Ter) c.7028_7029insGTAACTTTCACAAAGTTAAAAACAACTCCAATCAAGCAGC (p.Ala2344Ter) n.7397_7398insGTAACTTTCACAAAGTTAAAAACAACTCCAATCAAGCAGC c.7301_7302insGTAACTTTCACAAAGTTAAAAACAACTCCAATCAAGCAGC (p.Ala2435Ter) | gnomAD v3 gnomAD v4 |
| 13 | g.32355251A= | CA2082811627 | BRCA2 | c.7398A= (p.Val2466=) c.7029A= (p.Val2343=) n.7398A= c.7398A= (p.Ala2466=) c.7302A= (p.Val2434=) | |
| 13 | g.32355251A>C | CA483439520 | BRCA2 | c.7398A>C (p.Val2466=) c.7029A>C (p.Val2343=) n.7398A>C c.7398A>C (p.Ala2466=) c.7302A>C (p.Val2434=) | |
| 13 | g.32355251A>G | CA336412 | BRCA2 | c.7398A>G (p.Val2466=) c.7029A>G (p.Val2343=) n.7398A>G c.7398A>G (p.Ala2466=) c.7302A>G (p.Val2434=) | ClinVar dbSNP |
| 13 | g.32355251A>T | CA483439521 | BRCA2 | c.7398A>T (p.Val2466=) c.7029A>T (p.Val2343=) n.7398A>T c.7398A>T (p.Ala2466=) c.7302A>T (p.Val2434=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355252G>A | CA387741823 | BRCA2 | c.7399G>A (p.Ala2467Thr) c.7030G>A (p.Ala2344Thr) n.7399G>A c.7303G>A (p.Ala2435Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355252G>C | CA387741830 | BRCA2 | c.7399G>C (p.Ala2467Pro) c.7030G>C (p.Ala2344Pro) n.7399G>C c.7303G>C (p.Ala2435Pro) | ClinVar |
| 13 | g.32355252G= | CA2082811639 | BRCA2 | c.7399G= (p.Ala2467=) c.7030G= (p.Ala2344=) n.7399G= c.7303G= (p.Ala2435=) | |
| 13 | g.32355252G>T | CA387741832 | BRCA2 | c.7399G>T (p.Ala2467Ser) c.7030G>T (p.Ala2344Ser) n.7399G>T c.7303G>T (p.Ala2435Ser) | |
| 13 | g.32355253C>A | CA387741836 | BRCA2 | c.7400C>A (p.Ala2467Asp) c.7031C>A (p.Ala2344Asp) n.7400C>A c.7304C>A (p.Ala2435Asp) | dbSNP |
| 13 | g.32355253C= | CA2082811645 | BRCA2 | c.7400C= (p.Ala2467=) c.7031C= (p.Ala2344=) n.7400C= c.7304C= (p.Ala2435=) | |
| 13 | g.32355253C>G | CA387741838 | BRCA2 | c.7400C>G (p.Ala2467Gly) c.7031C>G (p.Ala2344Gly) n.7400C>G c.7304C>G (p.Ala2435Gly) | dbSNP |
| 13 | g.32355253C>T | CA387741841 | BRCA2 | c.7400C>T (p.Ala2467Val) c.7031C>T (p.Ala2344Val) n.7400C>T c.7304C>T (p.Ala2435Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355254T>A | CA483439522 | BRCA2 | c.7401T>A (p.Ala2467=) c.7032T>A (p.Ala2344=) n.7401T>A c.7305T>A (p.Ala2435=) | dbSNP |
| 13 | g.32355254T>C | CA483439523 | BRCA2 | c.7401T>C (p.Ala2467=) c.7032T>C (p.Ala2344=) n.7401T>C c.7305T>C (p.Ala2435=) | ClinVar dbSNP |
| 13 | g.32355254T>G | CA483439524 | BRCA2 | c.7401T>G (p.Ala2467=) c.7032T>G (p.Ala2344=) n.7401T>G c.7305T>G (p.Ala2435=) | ClinVar |
| 13 | g.32355255G>A | CA025055 | BRCA2 | c.7402G>A (p.Val2468Ile) c.7033G>A (p.Val2345Ile) n.7402G>A c.7306G>A (p.Val2436Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32355255G>C | CA387741845 | BRCA2 | c.7402G>C (p.Val2468Leu) c.7033G>C (p.Val2345Leu) n.7402G>C c.7306G>C (p.Val2436Leu) | dbSNP |
| 13 | g.32355255G= | CA2082811654 | BRCA2 | c.7402G= (p.Val2468=) c.7033G= (p.Val2345=) n.7402G= c.7306G= (p.Val2436=) | |
| 13 | g.32355255G>T | CA387741844 | BRCA2 | c.7402G>T (p.Val2468Leu) c.7033G>T (p.Val2345Leu) n.7402G>T c.7306G>T (p.Val2436Leu) | |
| 13 | g.32355255dup | CA1139768306 | BRCA2 | c.7402dup (p.Val2468GlyfsTer7) c.7033dup (p.Val2345GlyfsTer7) n.7402dup c.7306dup (p.Val2436GlyfsTer7) | ClinVar |
| 13 | g.32355256T>A | CA387741846 | BRCA2 | c.7403T>A (p.Val2468Glu) c.7034T>A (p.Val2345Glu) n.7403T>A c.7307T>A (p.Val2436Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355256T>C | CA387741848 | BRCA2 | c.7403T>C (p.Val2468Ala) c.7034T>C (p.Val2345Ala) n.7403T>C c.7307T>C (p.Val2436Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355256T>G | CA387741861 | BRCA2 | c.7403T>G (p.Val2468Gly) c.7034T>G (p.Val2345Gly) n.7403T>G c.7307T>G (p.Val2436Gly) | |
| 13 | g.32355256T= | CA2082811664 | BRCA2 | c.7403T= (p.Val2468=) c.7034T= (p.Val2345=) n.7403T= c.7307T= (p.Val2436=) | |
| 13 | g.32355256dup | CA658683844 | BRCA2 | c.7403dup (p.Thr2469AsnfsTer6) c.7034dup (p.Thr2346AsnfsTer6) n.7403dup c.7307dup (p.Thr2437AsnfsTer6) | ClinVar dbSNP |
| 13 | g.32355257A= | CA2082811685 | BRCA2 | c.7404A= (p.Val2468=) c.7035A= (p.Val2345=) n.7404A= c.7308A= (p.Val2436=) | |
| 13 | g.32355257A>C | CA025056 | BRCA2 | c.7404A>C (p.Val2468=) c.7035A>C (p.Val2345=) n.7404A>C c.7308A>C (p.Val2436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355257A>G | CA483439526 | BRCA2 | c.7404A>G (p.Val2468=) c.7035A>G (p.Val2345=) n.7404A>G c.7308A>G (p.Val2436=) | |
| 13 | g.32355257A>T | CA483439527 | BRCA2 | c.7404A>T (p.Val2468=) c.7035A>T (p.Val2345=) n.7404A>T c.7308A>T (p.Val2436=) | |
| 13 | g.32355258A>C | CA387741870 | BRCA2 | c.7405A>C (p.Thr2469Pro) c.7036A>C (p.Thr2346Pro) n.7405A>C c.7309A>C (p.Thr2437Pro) | dbSNP |
| 13 | g.32355258A>G | CA387741871 | BRCA2 | c.7405A>G (p.Thr2469Ala) c.7036A>G (p.Thr2346Ala) n.7405A>G c.7309A>G (p.Thr2437Ala) | ClinVar dbSNP |
| 13 | g.32355258A>T | CA387741880 | BRCA2 | c.7405A>T (p.Thr2469Ser) c.7036A>T (p.Thr2346Ser) n.7405A>T c.7309A>T (p.Thr2437Ser) | dbSNP |
| 13 | g.32355259C>A | CA387741883 | BRCA2 | c.7406C>A (p.Thr2469Asn) c.7037C>A (p.Thr2346Asn) n.7406C>A c.7310C>A (p.Thr2437Asn) | dbSNP |
| 13 | g.32355259C>G | CA387741894 | BRCA2 | c.7406C>G (p.Thr2469Ser) c.7037C>G (p.Thr2346Ser) n.7406C>G c.7310C>G (p.Thr2437Ser) | dbSNP |
| 13 | g.32355259C>T | CA387741888 | BRCA2 | c.7406C>T (p.Thr2469Ile) c.7037C>T (p.Thr2346Ile) n.7406C>T c.7310C>T (p.Thr2437Ile) | ClinVar dbSNP |
| 13 | g.32355259_32355261delinsCTT | CA2082811701 | BRCA2 | c.7406_7408delinsCTT (p.Thr2469=) c.7037_7039delinsCTT (p.Thr2346=) n.7406_7408delinsCTT c.7310_7312delinsCTT (p.Thr2437=) | |
| 13 | g.32355260T>A | CA483439530 | BRCA2 | c.7407T>A (p.Thr2469=) c.7038T>A (p.Thr2346=) n.7407T>A c.7311T>A (p.Thr2437=) | dbSNP |
| 13 | g.32355260T>C | CA483439531 | BRCA2 | c.7407T>C (p.Thr2469=) c.7038T>C (p.Thr2346=) n.7407T>C c.7311T>C (p.Thr2437=) | ClinVar |
| 13 | g.32355260T>G | CA483439532 | BRCA2 | c.7407T>G (p.Thr2469=) c.7038T>G (p.Thr2346=) n.7407T>G c.7311T>G (p.Thr2437=) | |
| 13 | g.32355262dup | CA025059 | BRCA2 | c.7409dup (p.Thr2471HisfsTer4) c.7040dup (p.Thr2348HisfsTer4) n.7409dup c.7313dup (p.Thr2439HisfsTer4) | ClinVar dbSNP |
| 13 | g.32355261_32355262del | CA025058 | BRCA2 | c.7408_7409del (p.Phe2470HisfsTer4) c.7039_7040del (p.Phe2347HisfsTer4) n.7408_7409del c.7312_7313del (p.Phe2438HisfsTer4) | ClinVar dbSNP |
| 13 | g.32355261T>A | CA387741902 | BRCA2 | c.7408T>A (p.Phe2470Ile) c.7039T>A (p.Phe2347Ile) n.7408T>A c.7312T>A (p.Phe2438Ile) | dbSNP |
| 13 | g.32355261T>C | CA387741903 | BRCA2 | c.7408T>C (p.Phe2470Leu) c.7039T>C (p.Phe2347Leu) n.7408T>C c.7312T>C (p.Phe2438Leu) | |
| 13 | g.32355261T>G | CA387741904 | BRCA2 | c.7408T>G (p.Phe2470Val) c.7039T>G (p.Phe2347Val) n.7408T>G c.7312T>G (p.Phe2438Val) | ClinVar dbSNP |
| 13 | g.32355261T= | CA2082811721 | BRCA2 | c.7408T= (p.Phe2470=) c.7039T= (p.Phe2347=) n.7408T= c.7312T= (p.Phe2438=) | |
| 13 | g.32355262T>A | CA387741913 | BRCA2 | c.7409T>A (p.Phe2470Tyr) c.7040T>A (p.Phe2347Tyr) n.7409T>A c.7313T>A (p.Phe2438Tyr) | dbSNP |
| 13 | g.32355262T>C | CA387741906 | BRCA2 | c.7409T>C (p.Phe2470Ser) c.7040T>C (p.Phe2347Ser) n.7409T>C c.7313T>C (p.Phe2438Ser) | ClinVar dbSNP |
| 13 | g.32355262T>G | CA387741910 | BRCA2 | c.7409T>G (p.Phe2470Cys) c.7040T>G (p.Phe2347Cys) n.7409T>G c.7313T>G (p.Phe2438Cys) | ClinVar |
| 13 | g.32355263C>A | CA387741917 | BRCA2 | c.7410C>A (p.Phe2470Leu) c.7041C>A (p.Phe2347Leu) n.7410C>A c.7314C>A (p.Phe2438Leu) | dbSNP |
| 13 | g.32355263C= | CA2082811727 | BRCA2 | c.7410C= (p.Phe2470=) c.7041C= (p.Phe2347=) n.7410C= c.7314C= (p.Phe2438=) | |
| 13 | g.32355263C>G | CA10579736 | BRCA2 | c.7410C>G (p.Phe2470Leu) c.7041C>G (p.Phe2347Leu) n.7410C>G c.7314C>G (p.Phe2438Leu) | ClinVar dbSNP |
| 13 | g.32355263C>T | CA483439533 | BRCA2 | c.7410C>T (p.Phe2470=) c.7041C>T (p.Phe2347=) n.7410C>T c.7314C>T (p.Phe2438=) | ClinVar dbSNP |
| 13 | g.32355263_32355273delinsCACAAAGTGTG | CA2082811731 | BRCA2 | c.7410_7420delinsCACAAAGTGTG (p.Phe2470=) c.7041_7051delinsCACAAAGTGTG (p.Phe2347=) n.7410_7420delinsCACAAAGTGTG c.7314_7324delinsCACAAAGTGTG (p.Phe2438=) | |
| 13 | g.32355264A= | CA2082811756 | BRCA2 | c.7411A= (p.Thr2471=) c.7042A= (p.Thr2348=) n.7411A= c.7315A= (p.Thr2439=) | |
| 13 | g.32355264A>C | CA387741918 | BRCA2 | c.7411A>C (p.Thr2471Pro) c.7042A>C (p.Thr2348Pro) n.7411A>C c.7315A>C (p.Thr2439Pro) | |
| 13 | g.32355264A>G | CA025061 | BRCA2 | c.7411A>G (p.Thr2471Ala) c.7042A>G (p.Thr2348Ala) n.7411A>G c.7315A>G (p.Thr2439Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355264A>T | CA387741919 | BRCA2 | c.7411A>T (p.Thr2471Ser) c.7042A>T (p.Thr2348Ser) n.7411A>T c.7315A>T (p.Thr2439Ser) | dbSNP |
| 13 | g.32355265_32355274del | CA025063 | BRCA2 | c.7412_7421del (p.Thr2471LysfsTer5) c.7043_7052del (p.Thr2348LysfsTer5) n.7412_7421del c.7316_7325del (p.Thr2439LysfsTer5) | ClinVar dbSNP |
| 13 | g.32355265C>A | CA387741928 | BRCA2 | c.7412C>A (p.Thr2471Lys) c.7043C>A (p.Thr2348Lys) n.7412C>A c.7316C>A (p.Thr2439Lys) | dbSNP |
| 13 | g.32355265C>G | CA387741927 | BRCA2 | c.7412C>G (p.Thr2471Arg) c.7043C>G (p.Thr2348Arg) n.7412C>G c.7316C>G (p.Thr2439Arg) | dbSNP |
| 13 | g.32355265C>T | CA387741925 | BRCA2 | c.7412C>T (p.Thr2471Ile) c.7043C>T (p.Thr2348Ile) n.7412C>T c.7316C>T (p.Thr2439Ile) | dbSNP |
| 13 | g.32355265_32355267delinsCAA | CA2082811761 | BRCA2 | c.7412_7414delinsCAA (p.Thr2471=) c.7043_7045delinsCAA (p.Thr2348=) n.7412_7414delinsCAA c.7316_7318delinsCAA (p.Thr2439=) | |
| 13 | g.32355266A= | CA2082811778 | BRCA2 | c.7413A= (p.Thr2471=) c.7044A= (p.Thr2348=) n.7413A= c.7317A= (p.Thr2439=) | |
| 13 | g.32355266A>C | CA483439537 | BRCA2 | c.7413A>C (p.Thr2471=) c.7044A>C (p.Thr2348=) n.7413A>C c.7317A>C (p.Thr2439=) | |
| 13 | g.32355266A>G | CA6941088 | BRCA2 | c.7413A>G (p.Thr2471=) c.7044A>G (p.Thr2348=) n.7413A>G c.7317A>G (p.Thr2439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355266A>T | CA483439538 | BRCA2 | c.7413A>T (p.Thr2471=) c.7044A>T (p.Thr2348=) n.7413A>T c.7317A>T (p.Thr2439=) | ClinVar dbSNP |
| 13 | g.32355268dup | CA2499222282 | BRCA2 | c.7415dup (p.Cys2473ValfsTer2) c.7046dup (p.Cys2350ValfsTer2) n.7415dup c.7319dup (p.Cys2441ValfsTer2) | ClinVar dbSNP |
| 13 | g.32355268del | CA10586574 | BRCA2 | c.7415del (p.Lys2472SerfsTer7) c.7046del (p.Lys2349SerfsTer7) n.7415del c.7319del (p.Lys2440SerfsTer7) | ClinVar dbSNP |
| 13 | g.32355267_32355268del | CA025067 | BRCA2 | c.7414_7415del (p.Lys2472ValfsTer2) c.7045_7046del (p.Lys2349ValfsTer2) n.7414_7415del c.7318_7319del (p.Lys2440ValfsTer2) | ClinVar dbSNP |
| 13 | g.32355267A= | CA2082811790 | BRCA2 | c.7414A= (p.Lys2472=) c.7045A= (p.Lys2349=) n.7414A= c.7318A= (p.Lys2440=) | |
| 13 | g.32355267A>C | CA387741936 | BRCA2 | c.7414A>C (p.Lys2472Gln) c.7045A>C (p.Lys2349Gln) n.7414A>C c.7318A>C (p.Lys2440Gln) | ClinVar dbSNP |
| 13 | g.32355267A>G | CA16614208 | BRCA2 | c.7414A>G (p.Lys2472Glu) c.7045A>G (p.Lys2349Glu) n.7414A>G c.7318A>G (p.Lys2440Glu) | ClinVar dbSNP |
| 13 | g.32355267A>T | CA387741937 | BRCA2 | c.7414A>T (p.Lys2472Ter) c.7045A>T (p.Lys2349Ter) n.7414A>T c.7318A>T (p.Lys2440Ter) | dbSNP |
| 13 | g.32355268A= | CA2082811800 | BRCA2 | c.7415A= (p.Lys2472=) c.7046A= (p.Lys2349=) n.7415A= c.7319A= (p.Lys2440=) | |
| 13 | g.32355268A>C | CA025068 | BRCA2 | c.7415A>C (p.Lys2472Thr) c.7046A>C (p.Lys2349Thr) n.7415A>C c.7319A>C (p.Lys2440Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355268A>G | CA387741938 | BRCA2 | c.7415A>G (p.Lys2472Arg) c.7046A>G (p.Lys2349Arg) n.7415A>G c.7319A>G (p.Lys2440Arg) | ClinVar dbSNP |
| 13 | g.32355268A>T | CA387741940 | BRCA2 | c.7415A>T (p.Lys2472Met) c.7046A>T (p.Lys2349Met) n.7415A>T c.7319A>T (p.Lys2440Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355268_32355270delinsAGT | CA2082811807 | BRCA2 | c.7415_7417delinsAGT (p.Lys2472=) c.7046_7048delinsAGT (p.Lys2349=) n.7415_7417delinsAGT c.7319_7321delinsAGT (p.Lys2440=) | |
| 13 | g.32355269G>A | CA247468872 | BRCA2 | c.7416G>A (p.Lys2472=) c.7047G>A (p.Lys2349=) n.7416G>A c.7320G>A (p.Lys2440=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355269G>C | CA387741944 | BRCA2 | c.7416G>C (p.Lys2472Asn) c.7047G>C (p.Lys2349Asn) n.7416G>C c.7320G>C (p.Lys2440Asn) | ClinVar dbSNP |
| 13 | g.32355269G= | CA2082811815 | BRCA2 | c.7416G= (p.Lys2472=) c.7047G= (p.Lys2349=) n.7416G= c.7320G= (p.Lys2440=) | |
| 13 | g.32355269G>T | CA387741947 | BRCA2 | c.7416G>T (p.Lys2472Asn) c.7047G>T (p.Lys2349Asn) n.7416G>T c.7320G>T (p.Lys2440Asn) | |
| 13 | g.32355272_32355273del | CA025073 | BRCA2 | c.7419_7420del (p.Cys2473Ter) c.7050_7051del (p.Cys2350Ter) n.7419_7420del c.7323_7324del (p.Cys2441Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355270T>A | CA387741950 | BRCA2 | c.7417T>A (p.Cys2473Ser) c.7048T>A (p.Cys2350Ser) n.7417T>A c.7321T>A (p.Cys2441Ser) | ClinVar dbSNP |
| 13 | g.32355270T>C | CA025070 | BRCA2 | c.7417T>C (p.Cys2473Arg) c.7048T>C (p.Cys2350Arg) n.7417T>C c.7321T>C (p.Cys2441Arg) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355270T>G | CA387741966 | BRCA2 | c.7417T>G (p.Cys2473Gly) c.7048T>G (p.Cys2350Gly) n.7417T>G c.7321T>G (p.Cys2441Gly) | |
| 13 | g.32355270T= | CA2082811819 | BRCA2 | c.7417T= (p.Cys2473=) c.7048T= (p.Cys2350=) n.7417T= c.7321T= (p.Cys2441=) | |
| 13 | g.32355270_32355271insTC | CA2580087447 | BRCA2 | c.7417_7418insTC (p.Cys2473PhefsTer7) c.7048_7049insTC (p.Cys2350PhefsTer7) n.7417_7418insTC c.7321_7322insTC (p.Cys2441PhefsTer7) | ClinVar |
| 13 | g.32355271G>A | CA025072 | BRCA2 | c.7418G>A (p.Cys2473Tyr) c.7049G>A (p.Cys2350Tyr) n.7418G>A c.7322G>A (p.Cys2441Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355271G>C | CA387741968 | BRCA2 | c.7418G>C (p.Cys2473Ser) c.7049G>C (p.Cys2350Ser) n.7418G>C c.7322G>C (p.Cys2441Ser) | dbSNP |
| 13 | g.32355271G= | CA2082811830 | BRCA2 | c.7418G= (p.Cys2473=) c.7049G= (p.Cys2350=) n.7418G= c.7322G= (p.Cys2441=) | |
| 13 | g.32355271G>T | CA387741969 | BRCA2 | c.7418G>T (p.Cys2473Phe) c.7049G>T (p.Cys2350Phe) n.7418G>T c.7322G>T (p.Cys2441Phe) | ClinVar dbSNP |
| 13 | g.32355272del | CA2499222283 | BRCA2 | c.7419del (p.Cys2473TrpfsTer6) c.7050del (p.Cys2350TrpfsTer6) n.7419del c.7323del (p.Cys2441TrpfsTer6) | |
| 13 | g.32355272T>A | CA387741973 | BRCA2 | c.7419T>A (p.Cys2473Ter) c.7050T>A (p.Cys2350Ter) n.7419T>A c.7323T>A (p.Cys2441Ter) | ClinVar dbSNP |
| 13 | g.32355272T>C | CA483439543 | BRCA2 | c.7419T>C (p.Cys2473=) c.7050T>C (p.Cys2350=) n.7419T>C c.7323T>C (p.Cys2441=) | gnomAD v4 |
| 13 | g.32355272T>G | CA387741975 | BRCA2 | c.7419T>G (p.Cys2473Trp) c.7050T>G (p.Cys2350Trp) n.7419T>G c.7323T>G (p.Cys2441Trp) | |
| 13 | g.32355272T= | CA2082811838 | BRCA2 | c.7419T= (p.Cys2473=) c.7050T= (p.Cys2350=) n.7419T= c.7323T= (p.Cys2441=) | |
| 13 | g.32355272_32355275delinsTGAA | CA2082811837 | BRCA2 | c.7419_7422delinsTGAA (p.Cys2473=) c.7050_7053delinsTGAA (p.Cys2350=) n.7419_7422delinsTGAA c.7323_7326delinsTGAA (p.Cys2441=) | |
| 13 | g.32355273G>A | CA387741987 | BRCA2 | c.7420G>A (p.Glu2474Lys) c.7051G>A (p.Glu2351Lys) n.7420G>A c.7324G>A (p.Glu2442Lys) | dbSNP gnomAD v4 |
| 13 | g.32355273G>C | CA387741983 | BRCA2 | c.7420G>C (p.Glu2474Gln) c.7051G>C (p.Glu2351Gln) n.7420G>C c.7324G>C (p.Glu2442Gln) | dbSNP |
| 13 | g.32355273G>T | CA387741978 | BRCA2 | c.7420G>T (p.Glu2474Ter) c.7051G>T (p.Glu2351Ter) n.7420G>T c.7324G>T (p.Glu2442Ter) | COSMIC COSMIC |
| 13 | g.32355279_32355281del | CA6941089 | BRCA2 | c.7426_7428del (p.Glu2476del) c.7057_7059del (p.Glu2353del) n.7426_7428del c.7330_7332del (p.Glu2444del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355274A>C | CA387741990 | BRCA2 | c.7421A>C (p.Glu2474Ala) c.7052A>C (p.Glu2351Ala) n.7421A>C c.7325A>C (p.Glu2442Ala) | |
| 13 | g.32355274A>G | CA387741991 | BRCA2 | c.7421A>G (p.Glu2474Gly) c.7052A>G (p.Glu2351Gly) n.7421A>G c.7325A>G (p.Glu2442Gly) | dbSNP |
| 13 | g.32355274A>T | CA387741993 | BRCA2 | c.7421A>T (p.Glu2474Val) c.7052A>T (p.Glu2351Val) n.7421A>T c.7325A>T (p.Glu2442Val) | dbSNP |
| 13 | g.32355275dup | CA2695217930 | BRCA2 | c.7422dup (p.Glu2475ArgfsTer22) c.7053dup (p.Glu2352ArgfsTer22) n.7422dup c.7326dup (p.Glu2443ArgfsTer22) | |
| 13 | g.32355275A= | CA2082811859 | BRCA2 | c.7422A= (p.Glu2474=) c.7053A= (p.Glu2351=) n.7422A= c.7326A= (p.Glu2442=) | |
| 13 | g.32355275A>C | CA387741994 | BRCA2 | c.7422A>C (p.Glu2474Asp) c.7053A>C (p.Glu2351Asp) n.7422A>C c.7326A>C (p.Glu2442Asp) | |
| 13 | g.32355275A>G | CA483439546 | BRCA2 | c.7422A>G (p.Glu2474=) c.7053A>G (p.Glu2351=) n.7422A>G c.7326A>G (p.Glu2442=) | ClinVar dbSNP |
| 13 | g.32355275A>T | CA387741997 | BRCA2 | c.7422A>T (p.Glu2474Asp) c.7053A>T (p.Glu2351Asp) n.7422A>T c.7326A>T (p.Glu2442Asp) | |
| 13 | g.32355276G>A | CA387742000 | BRCA2 | c.7423G>A (p.Glu2475Lys) c.7054G>A (p.Glu2352Lys) n.7423G>A c.7327G>A (p.Glu2443Lys) | dbSNP |
| 13 | g.32355276G>C | CA387742002 | BRCA2 | c.7423G>C (p.Glu2475Gln) c.7054G>C (p.Glu2352Gln) n.7423G>C c.7327G>C (p.Glu2443Gln) | dbSNP |
| 13 | g.32355276G= | CA2082811867 | BRCA2 | c.7423G= (p.Glu2475=) c.7054G= (p.Glu2352=) n.7423G= c.7327G= (p.Glu2443=) | |
| 13 | g.32355276G>T | CA387742006 | BRCA2 | c.7423G>T (p.Glu2475Ter) c.7054G>T (p.Glu2352Ter) n.7423G>T c.7327G>T (p.Glu2443Ter) | ClinVar dbSNP |
| 13 | g.32355276_32355277delinsGA | CA2082811866 | BRCA2 | c.7423_7424delinsGA (p.Glu2475=) c.7054_7055delinsGA (p.Glu2352=) n.7423_7424delinsGA c.7327_7328delinsGA (p.Glu2443=) | |
| 13 | g.32355277A= | CA2082811883 | BRCA2 | c.7424A= (p.Glu2475=) c.7055A= (p.Glu2352=) n.7424A= c.7328A= (p.Glu2443=) | |
| 13 | g.32355277A>C | CA387742008 | BRCA2 | c.7424A>C (p.Glu2475Ala) c.7055A>C (p.Glu2352Ala) n.7424A>C c.7328A>C (p.Glu2443Ala) | |
| 13 | g.32355277A>G | CA387742010 | BRCA2 | c.7424A>G (p.Glu2475Gly) c.7055A>G (p.Glu2352Gly) n.7424A>G c.7328A>G (p.Glu2443Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355277A>T | CA387742035 | BRCA2 | c.7424A>T (p.Glu2475Val) c.7055A>T (p.Glu2352Val) n.7424A>T c.7328A>T (p.Glu2443Val) | |
| 13 | g.32355278del | CA10589427 | BRCA2 | c.7425del (p.Glu2476AsnfsTer3) c.7056del (p.Glu2353AsnfsTer3) n.7425del c.7329del (p.Glu2444AsnfsTer3) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355278A= | CA2082811900 | BRCA2 | c.7425A= (p.Glu2475=) c.7056A= (p.Glu2352=) n.7425A= c.7329A= (p.Glu2443=) | |
| 13 | g.32355278A>C | CA387742046 | BRCA2 | c.7425A>C (p.Glu2475Asp) c.7056A>C (p.Glu2352Asp) n.7425A>C c.7329A>C (p.Glu2443Asp) | |
| 13 | g.32355278A>G | CA483439549 | BRCA2 | c.7425A>G (p.Glu2475=) c.7056A>G (p.Glu2352=) n.7425A>G c.7329A>G (p.Glu2443=) | |
| 13 | g.32355278A>T | CA387742053 | BRCA2 | c.7425A>T (p.Glu2475Asp) c.7056A>T (p.Glu2352Asp) n.7425A>T c.7329A>T (p.Glu2443Asp) | |
| 13 | g.32355278_32355279insCC | CA919242729 | BRCA2 | c.7425_7426insCC (p.Glu2476ProfsTer4) c.7056_7057insCC (p.Glu2353ProfsTer4) n.7425_7426insCC c.7329_7330insCC (p.Glu2444ProfsTer4) | dbSNP |
| 13 | g.32355279G>A | CA247468882 | BRCA2 | c.7426G>A (p.Glu2476Lys) c.7057G>A (p.Glu2353Lys) n.7426G>A c.7330G>A (p.Glu2444Lys) | ClinVar dbSNP |
| 13 | g.32355279G>C | CA387742056 | BRCA2 | c.7426G>C (p.Glu2476Gln) c.7057G>C (p.Glu2353Gln) n.7426G>C c.7330G>C (p.Glu2444Gln) | ClinVar dbSNP |
| 13 | g.32355279G= | CA2082811915 | BRCA2 | c.7426G= (p.Glu2476=) c.7057G= (p.Glu2353=) n.7426G= c.7330G= (p.Glu2444=) | |
| 13 | g.32355279G>T | CA387742059 | BRCA2 | c.7426G>T (p.Glu2476Ter) c.7057G>T (p.Glu2353Ter) n.7426G>T c.7330G>T (p.Glu2444Ter) | COSMIC COSMIC |
| 13 | g.32355279_32355280delinsCC | CA913188636 | BRCA2 | c.7426_7427delinsCC (p.Glu2476Pro) c.7057_7058delinsCC (p.Glu2353Pro) n.7426_7427delinsCC c.7330_7331delinsCC (p.Glu2444Pro) | ClinVar dbSNP |
| 13 | g.32355279_32355280delinsGA | CA2082811927 | BRCA2 | c.7426_7427delinsGA (p.Glu2476=) c.7057_7058delinsGA (p.Glu2353=) n.7426_7427delinsGA c.7330_7331delinsGA (p.Glu2444=) | |
| 13 | g.32355280A= | CA2082811940 | BRCA2 | c.7427A= (p.Glu2476=) c.7058A= (p.Glu2353=) n.7427A= c.7331A= (p.Glu2444=) | |
| 13 | g.32355280A>C | CA387742065 | BRCA2 | c.7427A>C (p.Glu2476Ala) c.7058A>C (p.Glu2353Ala) n.7427A>C c.7331A>C (p.Glu2444Ala) | |
| 13 | g.32355280A>G | CA387742069 | BRCA2 | c.7427A>G (p.Glu2476Gly) c.7058A>G (p.Glu2353Gly) n.7427A>G c.7331A>G (p.Glu2444Gly) | ClinVar dbSNP |
| 13 | g.32355280A>T | CA387742070 | BRCA2 | c.7427A>T (p.Glu2476Val) c.7058A>T (p.Glu2353Val) n.7427A>T c.7331A>T (p.Glu2444Val) | |
| 13 | g.32355281A>C | CA387742074 | BRCA2 | c.7428A>C (p.Glu2476Asp) c.7059A>C (p.Glu2353Asp) n.7428A>C c.7332A>C (p.Glu2444Asp) | |
| 13 | g.32355281A>G | CA483439554 | BRCA2 | c.7428A>G (p.Glu2476=) c.7059A>G (p.Glu2353=) n.7428A>G c.7332A>G (p.Glu2444=) | ClinVar gnomAD v4 |
| 13 | g.32355281A>T | CA387742075 | BRCA2 | c.7428A>T (p.Glu2476Asp) c.7059A>T (p.Glu2353Asp) n.7428A>T c.7332A>T (p.Glu2444Asp) | |
| 13 | g.32355282C>A | CA025075 | BRCA2 | c.7429C>A (p.Pro2477Thr) c.7060C>A (p.Pro2354Thr) n.7429C>A c.7333C>A (p.Pro2445Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355282C= | CA2082811954 | BRCA2 | c.7429C= (p.Pro2477=) c.7060C= (p.Pro2354=) n.7429C= c.7333C= (p.Pro2445=) | |
| 13 | g.32355282C>G | CA387742076 | BRCA2 | c.7429C>G (p.Pro2477Ala) c.7060C>G (p.Pro2354Ala) n.7429C>G c.7333C>G (p.Pro2445Ala) | ClinVar dbSNP |
| 13 | g.32355282C>T | CA025076 | BRCA2 | c.7429C>T (p.Pro2477Ser) c.7060C>T (p.Pro2354Ser) n.7429C>T c.7333C>T (p.Pro2445Ser) | ClinVar dbSNP |
| 13 | g.32355283C>A | CA387742080 | BRCA2 | c.7430C>A (p.Pro2477His) c.7061C>A (p.Pro2354His) n.7430C>A c.7334C>A (p.Pro2445His) | gnomAD v4 |
| 13 | g.32355283C= | CA2082811959 | BRCA2 | c.7430C= (p.Pro2477=) c.7061C= (p.Pro2354=) n.7430C= c.7334C= (p.Pro2445=) | |
| 13 | g.32355283C>G | CA387742083 | BRCA2 | c.7430C>G (p.Pro2477Arg) c.7061C>G (p.Pro2354Arg) n.7430C>G c.7334C>G (p.Pro2445Arg) | |
| 13 | g.32355283C>T | CA387742088 | BRCA2 | c.7430C>T (p.Pro2477Leu) c.7061C>T (p.Pro2354Leu) n.7430C>T c.7334C>T (p.Pro2445Leu) | COSMIC COSMIC |
| 13 | g.32355284T>A | CA483439558 | BRCA2 | c.7431T>A (p.Pro2477=) c.7062T>A (p.Pro2354=) n.7431T>A c.7335T>A (p.Pro2445=) | ClinVar dbSNP |
| 13 | g.32355284T>C | CA10583127 | BRCA2 | c.7431T>C (p.Pro2477=) c.7062T>C (p.Pro2354=) n.7431T>C c.7335T>C (p.Pro2445=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355284T>G | CA483439560 | BRCA2 | c.7431T>G (p.Pro2477=) c.7062T>G (p.Pro2354=) n.7431T>G c.7335T>G (p.Pro2445=) | ClinVar dbSNP |
| 13 | g.32355284T= | CA2082811967 | BRCA2 | c.7431T= (p.Pro2477=) c.7062T= (p.Pro2354=) n.7431T= c.7335T= (p.Pro2445=) | |
| 13 | g.32355286dup | CA6941090 | BRCA2 | c.7433dup (p.Leu2478PhefsTer19) c.7064dup (p.Leu2355PhefsTer19) n.7433dup c.7337dup (p.Leu2446PhefsTer19) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355286del | CA2695199712 | BRCA2 | c.7433del (p.Leu2478Ter) c.7064del (p.Leu2355Ter) n.7433del c.7337del (p.Leu2446Ter) | ClinVar |
| 13 | g.32355285T>A | CA387742094 | BRCA2 | c.7432T>A (p.Leu2478Ile) c.7063T>A (p.Leu2355Ile) n.7432T>A c.7336T>A (p.Leu2446Ile) | |
| 13 | g.32355285T>C | CA483439563 | BRCA2 | c.7432T>C (p.Leu2478=) c.7063T>C (p.Leu2355=) n.7432T>C c.7336T>C (p.Leu2446=) | |
| 13 | g.32355285T>G | CA387742108 | BRCA2 | c.7432T>G (p.Leu2478Val) c.7063T>G (p.Leu2355Val) n.7432T>G c.7336T>G (p.Leu2446Val) | ClinVar dbSNP |
| 13 | g.32355285T= | CA2082811973 | BRCA2 | c.7432T= (p.Leu2478=) c.7063T= (p.Leu2355=) n.7432T= c.7336T= (p.Leu2446=) | |
| 13 | g.32355286T>A | CA387742111 | BRCA2 | c.7433T>A (p.Leu2478Ter) c.7064T>A (p.Leu2355Ter) n.7433T>A c.7337T>A (p.Leu2446Ter) | dbSNP |
| 13 | g.32355286T>C | CA387742124 | BRCA2 | c.7433T>C (p.Leu2478Ser) c.7064T>C (p.Leu2355Ser) n.7433T>C c.7337T>C (p.Leu2446Ser) | |
| 13 | g.32355286T>G | CA387742125 | BRCA2 | c.7433T>G (p.Leu2478Ter) c.7064T>G (p.Leu2355Ter) n.7433T>G c.7337T>G (p.Leu2446Ter) | ClinVar dbSNP |
| 13 | g.32355286T= | CA2082811983 | BRCA2 | c.7433T= (p.Leu2478=) c.7064T= (p.Leu2355=) n.7433T= c.7337T= (p.Leu2446=) | |
| 13 | g.32355287A= | CA2082811992 | BRCA2 | c.7434A= (p.Leu2478=) c.7065A= (p.Leu2355=) n.7434A= c.7338A= (p.Leu2446=) | |
| 13 | g.32355287A>C | CA387742126 | BRCA2 | c.7434A>C (p.Leu2478Phe) c.7065A>C (p.Leu2355Phe) n.7434A>C c.7338A>C (p.Leu2446Phe) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355287A>G | CA483439565 | BRCA2 | c.7434A>G (p.Leu2478=) c.7065A>G (p.Leu2355=) n.7434A>G c.7338A>G (p.Leu2446=) | |
| 13 | g.32355287A>T | CA387742127 | BRCA2 | c.7434A>T (p.Leu2478Phe) c.7065A>T (p.Leu2355Phe) n.7434A>T c.7338A>T (p.Leu2446Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355287dup | CA10589428 | BRCA2 | c.7434dup (p.Asp2479ArgfsTer18) c.7065dup (p.Asp2356ArgfsTer18) n.7434dup c.7338dup (p.Asp2447ArgfsTer18) | ClinVar dbSNP |
| 13 | g.32355288G>A | CA387742130 | BRCA2 | c.7435G>A (p.Asp2479Asn) c.7066G>A (p.Asp2356Asn) n.7435G>A c.7339G>A (p.Asp2447Asn) | dbSNP |
| 13 | g.32355288G>C | CA387742135 | BRCA2 | c.7435G>C (p.Asp2479His) c.7066G>C (p.Asp2356His) n.7435G>C c.7339G>C (p.Asp2447His) | |
| 13 | g.32355288G>T | CA387742138 | BRCA2 | c.7435G>T (p.Asp2479Tyr) c.7066G>T (p.Asp2356Tyr) n.7435G>T c.7339G>T (p.Asp2447Tyr) | dbSNP |
| 13 | g.32355289G>A | CA387742142 | BRCA2 | c.7435+1G>A (n.7435+1G>A) c.7066+1G>A (n.7066+1G>A) n.7435+1G>A c.7339+1G>A (n.7339+1G>A) | dbSNP |
| 13 | g.32355289G>C | CA6941091 | BRCA2 | c.7435+1G>C (n.7435+1G>C) c.7066+1G>C (n.7066+1G>C) n.7435+1G>C c.7339+1G>C (n.7339+1G>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32355289G= | CA2082812008 | BRCA2 | c.7435+1G= (n.7435+1G=) c.7066+1G= (n.7066+1G=) n.7435+1G= c.7339+1G= (n.7339+1G=) | |
| 13 | g.32355289G>T | CA387742146 | BRCA2 | c.7435+1G>T (n.7435+1G>T) c.7066+1G>T (n.7066+1G>T) n.7435+1G>T c.7339+1G>T (n.7339+1G>T) | |
| 13 | g.32355290T>A | CA387742150 | BRCA2 | c.7435+2T>A (n.7435+2T>A) c.7066+2T>A (n.7066+2T>A) n.7435+2T>A c.7339+2T>A (n.7339+2T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355290T>C | CA387742153 | BRCA2 | c.7435+2T>C (n.7435+2T>C) c.7066+2T>C (n.7066+2T>C) n.7435+2T>C c.7339+2T>C (n.7339+2T>C) | ClinVar dbSNP |
| 13 | g.32355290T>G | CA387742152 | BRCA2 | c.7435+2T>G (n.7435+2T>G) c.7066+2T>G (n.7066+2T>G) n.7435+2T>G c.7339+2T>G (n.7339+2T>G) | |
| 13 | g.32355290T= | CA2082812024 | BRCA2 | c.7435+2T= (n.7435+2T=) c.7066+2T= (n.7066+2T=) n.7435+2T= c.7339+2T= (n.7339+2T=) | |
| 13 | g.32355291A= | CA2082812030 | BRCA2 | c.7435+3A= (n.7435+3A=) c.7066+3A= (n.7066+3A=) n.7435+3A= c.7339+3A= (n.7339+3A=) | |
| 13 | g.32355291A>G | CA10577490 | BRCA2 | c.7435+3A>G (n.7435+3A>G) c.7066+3A>G (n.7066+3A>G) n.7435+3A>G c.7339+3A>G (n.7339+3A>G) | ClinVar dbSNP |
| 13 | g.32355291A>T | CA2727841607 | BRCA2 | c.7435+3A>T (n.7435+3A>T) c.7066+3A>T (n.7066+3A>T) n.7435+3A>T c.7339+3A>T (n.7339+3A>T) | dbSNP |
| 13 | g.32355292T>A | CA658656423 | BRCA2 | c.7435+4T>A (n.7435+4T>A) c.7066+4T>A (n.7066+4T>A) n.7435+4T>A c.7339+4T>A (n.7339+4T>A) | ClinVar dbSNP |
| 13 | g.32355292T>C | CA2573149382 | BRCA2 | c.7435+4T>C (n.7435+4T>C) c.7066+4T>C (n.7066+4T>C) n.7435+4T>C c.7339+4T>C (n.7339+4T>C) | ClinVar dbSNP |
| 13 | g.32355292T= | CA2082812035 | BRCA2 | c.7435+4T= (n.7435+4T=) c.7066+4T= (n.7066+4T=) n.7435+4T= c.7339+4T= (n.7339+4T=) | |
| 13 | g.32355293T>A | CA2727840715 | BRCA2 | c.7435+5T>A (n.7435+5T>A) c.7066+5T>A (n.7066+5T>A) n.7435+5T>A c.7339+5T>A (n.7339+5T>A) | dbSNP |
| 13 | g.32355293T>C | CA10579737 | BRCA2 | c.7435+5T>C (n.7435+5T>C) c.7066+5T>C (n.7066+5T>C) n.7435+5T>C c.7339+5T>C (n.7339+5T>C) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355293T>G | CA6941092 | BRCA2 | c.7435+5T>G (n.7435+5T>G) c.7066+5T>G (n.7066+5T>G) n.7435+5T>G c.7339+5T>G (n.7339+5T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355293T= | CA2082812058 | BRCA2 | c.7435+5T= (n.7435+5T=) c.7066+5T= (n.7066+5T=) n.7435+5T= c.7339+5T= (n.7339+5T=) | |
| 13 | g.32355294G>A | CA025080 | BRCA2 | c.7435+6G>A (n.7435+6G>A) c.7066+6G>A (n.7066+6G>A) n.7435+6G>A c.7339+6G>A (n.7339+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355294G>C | CA2727833947 | BRCA2 | c.7435+6G>C (n.7435+6G>C) c.7066+6G>C (n.7066+6G>C) n.7435+6G>C c.7339+6G>C (n.7339+6G>C) | dbSNP |
| 13 | g.32355294G= | CA2082812071 | BRCA2 | c.7435+6G= (n.7435+6G=) c.7066+6G= (n.7066+6G=) n.7435+6G= c.7339+6G= (n.7339+6G=) | |
| 13 | g.32355294G>T | CA2739277511 | BRCA2 | c.7435+6G>T (n.7435+6G>T) c.7066+6G>T (n.7066+6G>T) n.7435+6G>T c.7339+6G>T (n.7339+6G>T) | ClinVar |
| 13 | g.32355295T>A | CA658798115 | BRCA2 | c.7435+7T>A (n.7435+7T>A) c.7066+7T>A (n.7066+7T>A) n.7435+7T>A c.7339+7T>A (n.7339+7T>A) | ClinVar dbSNP |
| 13 | g.32355295T>C | CA2727841608 | BRCA2 | c.7435+7T>C (n.7435+7T>C) c.7066+7T>C (n.7066+7T>C) n.7435+7T>C c.7339+7T>C (n.7339+7T>C) | dbSNP |
| 13 | g.32355295T>G | CA10583128 | BRCA2 | c.7435+7T>G (n.7435+7T>G) c.7066+7T>G (n.7066+7T>G) n.7435+7T>G c.7339+7T>G (n.7339+7T>G) | ClinVar dbSNP |
| 13 | g.32355295T= | CA2082812093 | BRCA2 | c.7435+7T= (n.7435+7T=) c.7066+7T= (n.7066+7T=) n.7435+7T= c.7339+7T= (n.7339+7T=) | |
| 13 | g.32355296A>G | CA2580087452 | BRCA2 | c.7435+8A>G (n.7435+8A>G) c.7066+8A>G (n.7066+8A>G) n.7435+8A>G c.7339+8A>G (n.7339+8A>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355296A>T | CA2573149383 | BRCA2 | c.7435+8A>T (n.7435+8A>T) c.7066+8A>T (n.7066+8A>T) n.7435+8A>T c.7339+8A>T (n.7339+8A>T) | ClinVar dbSNP |
| 13 | g.32355297T>C | CA658798116 | BRCA2 | c.7435+9T>C (n.7435+9T>C) c.7066+9T>C (n.7066+9T>C) n.7435+9T>C c.7339+9T>C (n.7339+9T>C) | ClinVar dbSNP |
| 13 | g.32355297T= | CA2082812096 | BRCA2 | c.7435+9T= (n.7435+9T=) c.7066+9T= (n.7066+9T=) n.7435+9T= c.7339+9T= (n.7339+9T=) | |
| 13 | g.32355298G>A | CA025078 | BRCA2 | c.7435+10G>A (n.7435+10G>A) c.7066+10G>A (n.7066+10G>A) n.7435+10G>A c.7339+10G>A (n.7339+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355298G>C | CA2727833949 | BRCA2 | c.7435+10G>C (n.7435+10G>C) c.7066+10G>C (n.7066+10G>C) n.7435+10G>C c.7339+10G>C (n.7339+10G>C) | dbSNP |
| 13 | g.32355298G= | CA2082812102 | BRCA2 | c.7435+10G= (n.7435+10G=) c.7066+10G= (n.7066+10G=) n.7435+10G= c.7339+10G= (n.7339+10G=) | |
| 13 | g.32355298G>T | CA2622600204 | BRCA2 | c.7435+10G>T (n.7435+10G>T) c.7066+10G>T (n.7066+10G>T) n.7435+10G>T c.7339+10G>T (n.7339+10G>T) | gnomAD v4 |
| 13 | g.32355299A>T | CA2727919818 | BRCA2 | c.7435+11A>T (n.7435+11A>T) c.7066+11A>T (n.7066+11A>T) n.7435+11A>T c.7339+11A>T (n.7339+11A>T) | dbSNP |
| 13 | g.32355300C>G | CA2727919950 | BRCA2 | c.7435+12C>G (n.7435+12C>G) c.7066+12C>G (n.7066+12C>G) n.7435+12C>G c.7339+12C>G (n.7339+12C>G) | dbSNP |
| 13 | g.32355300C>T | CA2727919853 | BRCA2 | c.7435+12C>T (n.7435+12C>T) c.7066+12C>T (n.7066+12C>T) n.7435+12C>T c.7339+12C>T (n.7339+12C>T) | dbSNP |
| 13 | g.32355301A= | CA2082812112 | BRCA2 | c.7435+13A= (n.7435+13A=) c.7066+13A= (n.7066+13A=) n.7435+13A= c.7339+13A= (n.7339+13A=) | |
| 13 | g.32355301A>C | CA2573149384 | BRCA2 | c.7435+13A>C (n.7435+13A>C) c.7066+13A>C (n.7066+13A>C) n.7435+13A>C c.7339+13A>C (n.7339+13A>C) | ClinVar dbSNP |
| 13 | g.32355301A>G | CA609453882 | BRCA2 | c.7435+13A>G (n.7435+13A>G) c.7066+13A>G (n.7066+13A>G) n.7435+13A>G c.7339+13A>G (n.7339+13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355301A>T | CA2727860744 | BRCA2 | c.7435+13A>T (n.7435+13A>T) c.7066+13A>T (n.7066+13A>T) n.7435+13A>T c.7339+13A>T (n.7339+13A>T) | dbSNP |
| 13 | g.32355302A= | CA2082812125 | BRCA2 | c.7435+14A= (n.7435+14A=) c.7066+14A= (n.7066+14A=) n.7435+14A= c.7339+14A= (n.7339+14A=) | |
| 13 | g.32355302A>C | CA2727840716 | BRCA2 | c.7435+14A>C (n.7435+14A>C) c.7066+14A>C (n.7066+14A>C) n.7435+14A>C c.7339+14A>C (n.7339+14A>C) | dbSNP |
| 13 | g.32355302A>G | CA6941093 | BRCA2 | c.7435+14A>G (n.7435+14A>G) c.7066+14A>G (n.7066+14A>G) n.7435+14A>G c.7339+14A>G (n.7339+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355302A>T | CA2499222284 | BRCA2 | c.7435+14A>T (n.7435+14A>T) c.7066+14A>T (n.7066+14A>T) n.7435+14A>T c.7339+14A>T (n.7339+14A>T) | ClinVar dbSNP |
| 13 | g.32355302_32355303delinsAT | CA2082812120 | BRCA2 | c.7435+14_7435+15delinsAT (n.7435+14_7435+15delinsAT) c.7066+14_7066+15delinsAT (n.7066+14_7066+15delinsAT) n.7435+14_7435+15delinsAT c.7339+14_7339+15delinsAT (n.7339+14_7339+15delinsAT) | |
| 13 | g.32355302_32355305dup | CA697349661 | BRCA2 | c.7435+14_7435+17dup (n.7435+14_7435+17dup) c.7066+14_7066+17dup (n.7066+14_7066+17dup) n.7435+14_7435+17dup c.7339+14_7339+17dup (n.7339+14_7339+17dup) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355303T>C | CA2580087455 | BRCA2 | c.7435+15T>C (n.7435+15T>C) c.7066+15T>C (n.7066+15T>C) n.7435+15T>C c.7339+15T>C (n.7339+15T>C) | ClinVar |
| 13 | g.32355305del | CA609453883 | BRCA2 | c.7435+17del (n.7435+17del) c.7066+17del (n.7066+17del) n.7435+17del c.7339+17del (n.7339+17del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355304T>C | CA697349679 | BRCA2 | c.7435+16T>C (n.7435+16T>C) c.7066+16T>C (n.7066+16T>C) n.7435+16T>C c.7339+16T>C (n.7339+16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355304T>G | CA913188637 | BRCA2 | c.7435+16T>G (n.7435+16T>G) c.7066+16T>G (n.7066+16T>G) n.7435+16T>G c.7339+16T>G (n.7339+16T>G) | ClinVar |
| 13 | g.32355304T= | CA2082812140 | BRCA2 | c.7435+16T= (n.7435+16T=) c.7066+16T= (n.7066+16T=) n.7435+16T= c.7339+16T= (n.7339+16T=) | |
| 13 | g.32355309_32355310del | CA2727919973 | BRCA2 | c.7435+21_7435+22del (n.7435+21_7435+22del) c.7066+21_7066+22del (n.7066+21_7066+22del) n.7435+21_7435+22del c.7339+21_7339+22del (n.7339+21_7339+22del) | dbSNP |
| 13 | g.32355306G>A | CA10583129 | BRCA2 | c.7435+18G>A (n.7435+18G>A) c.7066+18G>A (n.7066+18G>A) n.7435+18G>A c.7339+18G>A (n.7339+18G>A) | ClinVar dbSNP |
| 13 | g.32355306G>C | CA658683845 | BRCA2 | c.7435+18G>C (n.7435+18G>C) c.7066+18G>C (n.7066+18G>C) n.7435+18G>C c.7339+18G>C (n.7339+18G>C) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355306G= | CA2082812144 | BRCA2 | c.7435+18G= (n.7435+18G=) c.7066+18G= (n.7066+18G=) n.7435+18G= c.7339+18G= (n.7339+18G=) | |
| 13 | g.32355307T>A | CA2727919981 | BRCA2 | c.7435+19T>A (n.7435+19T>A) c.7066+19T>A (n.7066+19T>A) n.7435+19T>A c.7339+19T>A (n.7339+19T>A) | dbSNP |
| 13 | g.32355308G>A | CA2573149385 | BRCA2 | c.7435+20G>A (n.7435+20G>A) c.7066+20G>A (n.7066+20G>A) n.7435+20G>A c.7339+20G>A (n.7339+20G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355309T>A | CA2727870971 | BRCA2 | c.7435+21T>A (n.7435+21T>A) c.7066+21T>A (n.7066+21T>A) n.7435+21T>A c.7339+21T>A (n.7339+21T>A) | dbSNP |
| 13 | g.32355309T>G | CA697349697 | BRCA2 | c.7435+21T>G (n.7435+21T>G) c.7066+21T>G (n.7066+21T>G) n.7435+21T>G c.7339+21T>G (n.7339+21T>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355309T= | CA2082812149 | BRCA2 | c.7435+21T= (n.7435+21T=) c.7066+21T= (n.7066+21T=) n.7435+21T= c.7339+21T= (n.7339+21T=) | |
| 13 | g.32355310G>A | CA697349698 | BRCA2 | c.7435+22G>A (n.7435+22G>A) c.7066+22G>A (n.7066+22G>A) n.7435+22G>A c.7339+22G>A (n.7339+22G>A) | dbSNP |
| 13 | g.32355310G>C | CA2727865989 | BRCA2 | c.7435+22G>C (n.7435+22G>C) c.7066+22G>C (n.7066+22G>C) n.7435+22G>C c.7339+22G>C (n.7339+22G>C) | dbSNP |
| 13 | g.32355310G= | CA2082812151 | BRCA2 | c.7435+22G= (n.7435+22G=) c.7066+22G= (n.7066+22G=) n.7435+22G= c.7339+22G= (n.7339+22G=) | |
| 13 | g.32355311A= | CA2082812156 | BRCA2 | c.7435+23A= (n.7435+23A=) c.7066+23A= (n.7066+23A=) n.7435+23A= c.7339+23A= (n.7339+23A=) | |
| 13 | g.32355311A>G | CA6941094 | BRCA2 | c.7435+23A>G (n.7435+23A>G) c.7066+23A>G (n.7066+23A>G) n.7435+23A>G c.7339+23A>G (n.7339+23A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355311A>T | CA2727839877 | BRCA2 | c.7435+23A>T (n.7435+23A>T) c.7066+23A>T (n.7066+23A>T) n.7435+23A>T c.7339+23A>T (n.7339+23A>T) | dbSNP |
| 13 | g.32355312T>A | CA2727919994 | BRCA2 | c.7435+24T>A (n.7435+24T>A) c.7066+24T>A (n.7066+24T>A) n.7435+24T>A c.7339+24T>A (n.7339+24T>A) | dbSNP |
| 13 | g.32355312T>G | CA2727919995 | BRCA2 | c.7435+24T>G (n.7435+24T>G) c.7066+24T>G (n.7066+24T>G) n.7435+24T>G c.7339+24T>G (n.7339+24T>G) | dbSNP |
| 13 | g.32355313G>A | CA2727872802 | BRCA2 | c.7435+25G>A (n.7435+25G>A) c.7066+25G>A (n.7066+25G>A) n.7435+25G>A c.7339+25G>A (n.7339+25G>A) | dbSNP |
| 13 | g.32355313G>C | CA697349704 | BRCA2 | c.7435+25G>C (n.7435+25G>C) c.7066+25G>C (n.7066+25G>C) n.7435+25G>C c.7339+25G>C (n.7339+25G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355313G= | CA2082812163 | BRCA2 | c.7435+25G= (n.7435+25G=) c.7066+25G= (n.7066+25G=) n.7435+25G= c.7339+25G= (n.7339+25G=) | |
| 13 | g.32355314A>G | CA2798720718 | BRCA2 | c.7435+26A>G (n.7435+26A>G) c.7066+26A>G (n.7066+26A>G) n.7435+26A>G c.7339+26A>G (n.7339+26A>G) | |
| 13 | g.32355314A>T | CA2727919996 | BRCA2 | c.7435+26A>T (n.7435+26A>T) c.7066+26A>T (n.7066+26A>T) n.7435+26A>T c.7339+26A>T (n.7339+26A>T) | dbSNP |
| 13 | g.32355315A>G | CA2622600229 | BRCA2 | c.7435+27A>G (n.7435+27A>G) c.7066+27A>G (n.7066+27A>G) n.7435+27A>G c.7339+27A>G (n.7339+27A>G) | gnomAD v4 |
| 13 | g.32355316_32355317insCTCATTGTCATTAATCTTAT | CA2508066723 | BRCA2 | c.7435+28_7435+29insCTCATTGTCATTAATCTTAT (n.7435+28_7435+29insCTCATTGTCATTAATCTTAT) c.7066+28_7066+29insCTCATTGTCATTAATCTTAT (n.7066+28_7066+29insCTCATTGTCATTAATCTTAT) n.7435+28_7435+29insCTCATTGTCATTAATCTTAT c.7339+28_7339+29insCTCATTGTCATTAATCTTAT (n.7339+28_7339+29insCTCATTGTCATTAATCTTAT) | |
| 13 | g.32355316T>G | CA247468931 | BRCA2 | c.7435+28T>G (n.7435+28T>G) c.7066+28T>G (n.7066+28T>G) n.7435+28T>G c.7339+28T>G (n.7339+28T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355316T= | CA2082812166 | BRCA2 | c.7435+28T= (n.7435+28T=) c.7066+28T= (n.7066+28T=) n.7435+28T= c.7339+28T= (n.7339+28T=) | |
| 13 | g.32355320del | CA2622600231 | BRCA2 | c.7435+32del (n.7435+32del) c.7066+32del (n.7066+32del) n.7435+32del c.7339+32del (n.7339+32del) | gnomAD v4 |
| 13 | g.32355316_32355317insCTCATTGTCATTAATCTTA | CA2082812167 | BRCA2 | c.7435+28_7435+29insCTCATTGTCATTAATCTTA (n.7435+28_7435+29insCTCATTGTCATTAATCTTA) c.7066+28_7066+29insCTCATTGTCATTAATCTTA (n.7066+28_7066+29insCTCATTGTCATTAATCTTA) n.7435+28_7435+29insCTCATTGTCATTAATCTTA c.7339+28_7339+29insCTCATTGTCATTAATCTTA (n.7339+28_7339+29insCTCATTGTCATTAATCTTA) | dbSNP |
| 13 | g.32355317T>A | CA2727920056 | BRCA2 | c.7435+29T>A (n.7435+29T>A) c.7066+29T>A (n.7066+29T>A) n.7435+29T>A c.7339+29T>A (n.7339+29T>A) | dbSNP |
| 13 | g.32355317T>C | CA2622600232 | BRCA2 | c.7435+29T>C (n.7435+29T>C) c.7066+29T>C (n.7066+29T>C) n.7435+29T>C c.7339+29T>C (n.7339+29T>C) | gnomAD v4 |
| 13 | g.32355318_32355319insCA | CA2727920058 | BRCA2 | c.7435+30_7435+31insCA (n.7435+30_7435+31insCA) c.7066+30_7066+31insCA (n.7066+30_7066+31insCA) n.7435+30_7435+31insCA c.7339+30_7339+31insCA (n.7339+30_7339+31insCA) | dbSNP |
| 13 | g.32355319T>C | CA2082812175 | BRCA2 | c.7435+31T>C (n.7435+31T>C) c.7066+31T>C (n.7066+31T>C) n.7435+31T>C c.7339+31T>C (n.7339+31T>C) | dbSNP |
| 13 | g.32355319T= | CA2082812171 | BRCA2 | c.7435+31T= (n.7435+31T=) c.7066+31T= (n.7066+31T=) n.7435+31T= c.7339+31T= (n.7339+31T=) | |
| 13 | g.32355322C>A | CA2727920060 | BRCA2 | c.7435+34C>A (n.7435+34C>A) c.7066+34C>A (n.7066+34C>A) n.7435+34C>A c.7339+34C>A (n.7339+34C>A) | dbSNP |
| 13 | g.32355322C>G | CA2727920318 | BRCA2 | c.7435+34C>G (n.7435+34C>G) c.7066+34C>G (n.7066+34C>G) n.7435+34C>G c.7339+34C>G (n.7339+34C>G) | dbSNP |
| 13 | g.32355322C>T | CA2622600233 | BRCA2 | c.7435+34C>T (n.7435+34C>T) c.7066+34C>T (n.7066+34C>T) n.7435+34C>T c.7339+34C>T (n.7339+34C>T) | dbSNP gnomAD v4 |
| 13 | g.32355323C>T | CA2622600234 | BRCA2 | c.7435+35C>T (n.7435+35C>T) c.7066+35C>T (n.7066+35C>T) n.7435+35C>T c.7339+35C>T (n.7339+35C>T) | gnomAD v4 |
| 13 | g.32355324T>A | CA2727920342 | BRCA2 | c.7435+36T>A (n.7435+36T>A) c.7066+36T>A (n.7066+36T>A) n.7435+36T>A c.7339+36T>A (n.7339+36T>A) | dbSNP |
| 13 | g.32355324T>C | CA2622600235 | BRCA2 | c.7435+36T>C (n.7435+36T>C) c.7066+36T>C (n.7066+36T>C) n.7435+36T>C c.7339+36T>C (n.7339+36T>C) | gnomAD v4 |
| 13 | g.32355325T>C | CA2727920398 | BRCA2 | c.7435+37T>C (n.7435+37T>C) c.7066+37T>C (n.7066+37T>C) n.7435+37T>C c.7339+37T>C (n.7339+37T>C) | dbSNP |
| 13 | g.32355327C>G | CA2727920403 | BRCA2 | c.7435+39C>G (n.7435+39C>G) c.7066+39C>G (n.7066+39C>G) n.7435+39C>G c.7339+39C>G (n.7339+39C>G) | dbSNP |
| 13 | g.32355328A= | CA2082812180 | BRCA2 | c.7435+40A= (n.7435+40A=) c.7066+40A= (n.7066+40A=) n.7435+40A= c.7339+40A= (n.7339+40A=) | |
| 13 | g.32355328A>G | CA609453884 | BRCA2 | c.7435+40A>G (n.7435+40A>G) c.7066+40A>G (n.7066+40A>G) n.7435+40A>G c.7339+40A>G (n.7339+40A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355330T>A | CA2727920417 | BRCA2 | c.7435+42T>A (n.7435+42T>A) c.7066+42T>A (n.7066+42T>A) n.7435+42T>A c.7339+42T>A (n.7339+42T>A) | dbSNP |
| 13 | g.32355331del | CA2575387959 | BRCA2 | c.7435+43del (n.7435+43del) c.7066+43del (n.7066+43del) n.7435+43del c.7339+43del (n.7339+43del) | |
| 13 | g.32355332A= | CA2082812189 | BRCA2 | c.7435+44A= (n.7435+44A=) c.7066+44A= (n.7066+44A=) n.7435+44A= c.7339+44A= (n.7339+44A=) | |
| 13 | g.32355332A>C | CA6941095 | BRCA2 | c.7435+44A>C (n.7435+44A>C) c.7066+44A>C (n.7066+44A>C) n.7435+44A>C c.7339+44A>C (n.7339+44A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |