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.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.32355233_32355234delinsCA | CA2082811456 | BRCA2 | c.7380_7381delinsCA (p.Asn2460=) c.7011_7012delinsCA (p.Asn2337=) n.7380_7381delinsCA c.7284_7285delinsCA (p.Asn2428=) | |
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.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 |