Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338735_32338736del | CA020074 | BRCA2 | c.4380_4381del (p.Ser1461LeufsTer4) c.4011_4012del (p.Ser1338LeufsTer4) n.4380_4381del | ClinVar dbSNP gnomAD v4 |
13 | g.32338736T>A | CA387781051 | BRCA2 | c.4381T>A (p.Ser1461Thr) c.4012T>A (p.Ser1338Thr) n.4381T>A | dbSNP |
13 | g.32338736T>C | CA16613884 | BRCA2 | c.4381T>C (p.Ser1461Pro) c.4012T>C (p.Ser1338Pro) n.4381T>C | ClinVar dbSNP |
13 | g.32338736T>G | CA387781054 | BRCA2 | c.4381T>G (p.Ser1461Ala) c.4012T>G (p.Ser1338Ala) n.4381T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338736T= | CA2082811218 | BRCA2 | c.4381T= (p.Ser1461=) c.4012T= (p.Ser1338=) n.4381T= | |
13 | g.32338737C>A | CA387781056 | BRCA2 | c.4382C>A (p.Ser1461Tyr) c.4013C>A (p.Ser1338Tyr) n.4382C>A | dbSNP |
13 | g.32338737C= | CA2082811246 | BRCA2 | c.4382C= (p.Ser1461=) c.4013C= (p.Ser1338=) n.4382C= | |
13 | g.32338737C>G | CA387781058 | BRCA2 | c.4382C>G (p.Ser1461Cys) c.4013C>G (p.Ser1338Cys) n.4382C>G | dbSNP |
13 | g.32338737C>T | CA387781059 | BRCA2 | c.4382C>T (p.Ser1461Phe) c.4013C>T (p.Ser1338Phe) n.4382C>T | ClinVar dbSNP |
13 | g.32338737_32338739delinsCCT | CA2082811244 | BRCA2 | c.4382_4384delinsCCT (p.Ser1461=) c.4013_4015delinsCCT (p.Ser1338=) n.4382_4384delinsCCT | |
13 | g.32338738C>A | CA483438287 | BRCA2 | c.4383C>A (p.Ser1461=) c.4014C>A (p.Ser1338=) n.4383C>A | ClinVar dbSNP |
13 | g.32338738C= | CA2082811254 | BRCA2 | c.4383C= (p.Ser1461=) c.4014C= (p.Ser1338=) n.4383C= | |
13 | g.32338738C>G | CA483438288 | BRCA2 | c.4383C>G (p.Ser1461=) c.4014C>G (p.Ser1338=) n.4383C>G | ClinVar dbSNP |
13 | g.32338738C>T | CA483438289 | BRCA2 | c.4383C>T (p.Ser1461=) c.4014C>T (p.Ser1338=) n.4383C>T | dbSNP |
13 | g.32338738_32338739del | CA10579614 | BRCA2 | c.4383_4384del (p.Leu1462LysfsTer3) c.4014_4015del (p.Leu1339LysfsTer3) n.4383_4384del | ClinVar dbSNP |
13 | g.32338739T>A | CA387781062 | BRCA2 | c.4384T>A (p.Leu1462Ile) c.4015T>A (p.Leu1339Ile) n.4384T>A | ClinVar dbSNP |
13 | g.32338739T>C | CA483438291 | BRCA2 | c.4384T>C (p.Leu1462=) c.4015T>C (p.Leu1339=) n.4384T>C | dbSNP |
13 | g.32338739T>G | CA387781064 | BRCA2 | c.4384T>G (p.Leu1462Val) c.4015T>G (p.Leu1339Val) n.4384T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338739T= | CA2082811271 | BRCA2 | c.4384T= (p.Leu1462=) c.4015T= (p.Leu1339=) n.4384T= | |
13 | g.32338740dup | CA10589255 | BRCA2 | c.4385dup (p.Leu1462PhefsTer4) c.4016dup (p.Leu1339PhefsTer4) n.4385dup | ClinVar dbSNP |
13 | g.32338740T>A | CA387781065 | BRCA2 | c.4385T>A (p.Leu1462Ter) c.4016T>A (p.Leu1339Ter) n.4385T>A | |
13 | g.32338740T>C | CA387781066 | BRCA2 | c.4385T>C (p.Leu1462Ser) c.4016T>C (p.Leu1339Ser) n.4385T>C | |
13 | g.32338740T>G | CA387781067 | BRCA2 | c.4385T>G (p.Leu1462Ter) c.4016T>G (p.Leu1339Ter) n.4385T>G | |
13 | g.32338741A>C | CA387781068 | BRCA2 | c.4386A>C (p.Leu1462Phe) c.4017A>C (p.Leu1339Phe) n.4386A>C | |
13 | g.32338741A>G | CA483438292 | BRCA2 | c.4386A>G (p.Leu1462=) c.4017A>G (p.Leu1339=) n.4386A>G | ClinVar dbSNP |
13 | g.32338741A>T | CA387781070 | BRCA2 | c.4386A>T (p.Leu1462Phe) c.4017A>T (p.Leu1339Phe) n.4386A>T | dbSNP |
13 | g.32338742A>C | CA387781072 | BRCA2 | c.4387A>C (p.Asn1463His) c.4018A>C (p.Asn1340His) n.4387A>C | |
13 | g.32338742A>G | CA387781074 | BRCA2 | c.4387A>G (p.Asn1463Asp) c.4018A>G (p.Asn1340Asp) n.4387A>G | |
13 | g.32338742A>T | CA387781076 | BRCA2 | c.4387A>T (p.Asn1463Tyr) c.4018A>T (p.Asn1340Tyr) n.4387A>T | dbSNP |
13 | g.32338742_32338754delinsAATTCTGAATTAC | CA2082811287 | BRCA2 | c.4387_4399delinsAATTCTGAATTAC (p.Asn1463=) c.4018_4030delinsAATTCTGAATTAC (p.Asn1340=) n.4387_4399delinsAATTCTGAATTAC | |
13 | g.32338743A= | CA2082811322 | BRCA2 | c.4388A= (p.Asn1463=) c.4019A= (p.Asn1340=) n.4388A= | |
13 | g.32338743A>C | CA387781078 | BRCA2 | c.4388A>C (p.Asn1463Thr) c.4019A>C (p.Asn1340Thr) n.4388A>C | |
13 | g.32338743A>G | CA387781080 | BRCA2 | c.4388A>G (p.Asn1463Ser) c.4019A>G (p.Asn1340Ser) n.4388A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338743A>T | CA387781081 | BRCA2 | c.4388A>T (p.Asn1463Ile) c.4019A>T (p.Asn1340Ile) n.4388A>T | dbSNP |
13 | g.32338750_32338761del | CA915948463 | BRCA2 | c.4395_4406del (p.Glu1465_Ser1468del) c.4026_4037del (p.Glu1342_Ser1345del) n.4395_4406del | ClinVar dbSNP |
13 | g.32338744T>A | CA387781082 | BRCA2 | c.4389T>A (p.Asn1463Lys) c.4020T>A (p.Asn1340Lys) n.4389T>A | dbSNP |
13 | g.32338744T>C | CA483438294 | BRCA2 | c.4389T>C (p.Asn1463=) c.4020T>C (p.Asn1340=) n.4389T>C | |
13 | g.32338744T>G | CA387781084 | BRCA2 | c.4389T>G (p.Asn1463Lys) c.4020T>G (p.Asn1340Lys) n.4389T>G | |
13 | g.32338745T>A | CA387781086 | BRCA2 | c.4390T>A (p.Ser1464Thr) c.4021T>A (p.Ser1341Thr) n.4390T>A | dbSNP |
13 | g.32338745T>C | CA387781089 | BRCA2 | c.4390T>C (p.Ser1464Pro) c.4021T>C (p.Ser1341Pro) n.4390T>C | |
13 | g.32338745T>G | CA387781088 | BRCA2 | c.4390T>G (p.Ser1464Ala) c.4021T>G (p.Ser1341Ala) n.4390T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338745T= | CA2082811334 | BRCA2 | c.4390T= (p.Ser1464=) c.4021T= (p.Ser1341=) n.4390T= | |
13 | g.32338746_32338747del | CA2695218201 | BRCA2 | c.4391_4392del (p.Ser1464Ter) c.4022_4023del (p.Ser1341Ter) n.4391_4392del | |
13 | g.32338745_32338748delinsTCTG | CA2082811341 | BRCA2 | c.4390_4393delinsTCTG (p.Ser1464=) c.4021_4024delinsTCTG (p.Ser1341=) n.4390_4393delinsTCTG | |
13 | g.32338746C>A | CA387781092 | BRCA2 | c.4391C>A (p.Ser1464Tyr) c.4022C>A (p.Ser1341Tyr) n.4391C>A | dbSNP |
13 | g.32338746C= | CA2082811362 | BRCA2 | c.4391C= (p.Ser1464=) c.4022C= (p.Ser1341=) n.4391C= | |
13 | g.32338746C>G | CA387781093 | BRCA2 | c.4391C>G (p.Ser1464Cys) c.4022C>G (p.Ser1341Cys) n.4391C>G | ClinVar dbSNP |
13 | g.32338746C>T | CA020084 | BRCA2 | c.4391C>T (p.Ser1464Phe) c.4022C>T (p.Ser1341Phe) n.4391C>T | ClinVar dbSNP |
13 | g.32338746_32338748delinsTT | CA10581587 | BRCA2 | c.4391_4393delinsTT (p.Ser1464PhefsTer7) c.4022_4024delinsTT (p.Ser1341PhefsTer7) n.4391_4393delinsTT | ClinVar dbSNP |
13 | g.32338747T>A | CA483438296 | BRCA2 | c.4392T>A (p.Ser1464=) c.4023T>A (p.Ser1341=) n.4392T>A | dbSNP |