| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339002del | CA915948467 | BRCA2 | c.4647del (p.Glu1550SerfsTer18) c.4278del (p.Glu1427SerfsTer18) n.4647del | ClinVar dbSNP |
| 13 | g.32339001_32339003delinsAAG | CA2082814362 | BRCA2 | c.4646_4648delinsAAG (p.Lys1549=) c.4277_4279delinsAAG (p.Lys1426=) n.4646_4648delinsAAG | |
| 13 | g.32339001_32339005delinsAAGAG | CA2082814360 | BRCA2 | c.4646_4650delinsAAGAG (p.Lys1549=) c.4277_4281delinsAAGAG (p.Lys1426=) n.4646_4650delinsAAGAG | |
| 13 | g.32339002A>C | CA387782179 | BRCA2 | c.4647A>C (p.Lys1549Asn) c.4278A>C (p.Lys1426Asn) n.4647A>C | dbSNP |
| 13 | g.32339002A>G | CA483438095 | BRCA2 | c.4647A>G (p.Lys1549=) c.4278A>G (p.Lys1426=) n.4647A>G | dbSNP |
| 13 | g.32339002A>T | CA387782177 | BRCA2 | c.4647A>T (p.Lys1549Asn) c.4278A>T (p.Lys1426Asn) n.4647A>T | dbSNP |
| 13 | g.32339002_32339005del | CA020582 | BRCA2 | c.4647_4650del (p.Lys1549AsnfsTer18) c.4278_4281del (p.Lys1426AsnfsTer18) n.4647_4650del | ClinVar dbSNP |
| 13 | g.32339004_32339005del | CA915948468 | BRCA2 | c.4649_4650del (p.Glu1550AlafsTer4) c.4280_4281del (p.Glu1427AlafsTer4) n.4649_4650del | ClinVar dbSNP |
| 13 | g.32339003G>A | CA387782180 | BRCA2 | c.4648G>A (p.Glu1550Lys) c.4279G>A (p.Glu1427Lys) n.4648G>A | dbSNP |
| 13 | g.32339003G>C | CA6940803 | BRCA2 | c.4648G>C (p.Glu1550Gln) c.4279G>C (p.Glu1427Gln) n.4648G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339003G= | CA2082814388 | BRCA2 | c.4648G= (p.Glu1550=) c.4279G= (p.Glu1427=) n.4648G= | |
| 13 | g.32339003G>T | CA020587 | BRCA2 | c.4648G>T (p.Glu1550Ter) c.4279G>T (p.Glu1427Ter) n.4648G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339004A= | CA2082814399 | BRCA2 | c.4649A= (p.Glu1550=) c.4280A= (p.Glu1427=) n.4649A= | |
| 13 | g.32339004A>C | CA387782183 | BRCA2 | c.4649A>C (p.Glu1550Ala) c.4280A>C (p.Glu1427Ala) n.4649A>C | ClinVar dbSNP |
| 13 | g.32339004A>G | CA10579627 | BRCA2 | c.4649A>G (p.Glu1550Gly) c.4280A>G (p.Glu1427Gly) n.4649A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339004A>T | CA387782186 | BRCA2 | c.4649A>T (p.Glu1550Val) c.4280A>T (p.Glu1427Val) n.4649A>T | ClinVar dbSNP |
| 13 | g.32339005G>A | CA483438099 | BRCA2 | c.4650G>A (p.Glu1550=) c.4281G>A (p.Glu1427=) n.4650G>A | ClinVar dbSNP |
| 13 | g.32339005G>C | CA387782187 | BRCA2 | c.4650G>C (p.Glu1550Asp) c.4281G>C (p.Glu1427Asp) n.4650G>C | dbSNP |
| 13 | g.32339005G= | CA2082814409 | BRCA2 | c.4650G= (p.Glu1550=) c.4281G= (p.Glu1427=) n.4650G= | |
| 13 | g.32339005G>T | CA387782188 | BRCA2 | c.4650G>T (p.Glu1550Asp) c.4281G>T (p.Glu1427Asp) n.4650G>T | dbSNP |
| 13 | g.32339006C>A | CA387782190 | BRCA2 | c.4651C>A (p.Gln1551Lys) c.4282C>A (p.Gln1428Lys) n.4651C>A | dbSNP |
| 13 | g.32339006C= | CA2082814424 | BRCA2 | c.4651C= (p.Gln1551=) c.4282C= (p.Gln1428=) n.4651C= | |
| 13 | g.32339006C>G | CA387782192 | BRCA2 | c.4651C>G (p.Gln1551Glu) c.4282C>G (p.Gln1428Glu) n.4651C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339006C>T | CA10577473 | BRCA2 | c.4651C>T (p.Gln1551Ter) c.4282C>T (p.Gln1428Ter) n.4651C>T | ClinVar dbSNP |
| 13 | g.32339007A= | CA2082814434 | BRCA2 | c.4652A= (p.Gln1551=) c.4283A= (p.Gln1428=) n.4652A= | |
| 13 | g.32339007A>C | CA387782199 | BRCA2 | c.4652A>C (p.Gln1551Pro) c.4283A>C (p.Gln1428Pro) n.4652A>C | |
| 13 | g.32339007A>G | CA387782194 | BRCA2 | c.4652A>G (p.Gln1551Arg) c.4283A>G (p.Gln1428Arg) n.4652A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339007A>T | CA387782196 | BRCA2 | c.4652A>T (p.Gln1551Leu) c.4283A>T (p.Gln1428Leu) n.4652A>T | dbSNP |
| 13 | g.32339007_32339011delinsAAGGT | CA2082814437 | BRCA2 | c.4652_4656delinsAAGGT (p.Gln1551=) c.4283_4287delinsAAGGT (p.Gln1428=) n.4652_4656delinsAAGGT | |
| 13 | g.32339008A= | CA2082814456 | BRCA2 | c.4653A= (p.Gln1551=) c.4284A= (p.Gln1428=) n.4653A= | |
| 13 | g.32339008A>C | CA387782200 | BRCA2 | c.4653A>C (p.Gln1551His) c.4284A>C (p.Gln1428His) n.4653A>C | gnomAD v4 |
| 13 | g.32339008A>G | CA483438101 | BRCA2 | c.4653A>G (p.Gln1551=) c.4284A>G (p.Gln1428=) n.4653A>G | ClinVar dbSNP |
| 13 | g.32339008A>T | CA387782202 | BRCA2 | c.4653A>T (p.Gln1551His) c.4284A>T (p.Gln1428His) n.4653A>T | dbSNP |
| 13 | g.32339009_32339012del | CA658823609 | BRCA2 | c.4654_4657del (p.Gly1552LeufsTer15) c.4285_4288del (p.Gly1429LeufsTer15) n.4654_4657del | ClinVar dbSNP |
| 13 | g.32339009G>A | CA387782211 | BRCA2 | c.4654G>A (p.Gly1552Ser) c.4285G>A (p.Gly1429Ser) n.4654G>A | ClinVar dbSNP |
| 13 | g.32339009G>C | CA387782212 | BRCA2 | c.4654G>C (p.Gly1552Arg) c.4285G>C (p.Gly1429Arg) n.4654G>C | ClinVar dbSNP |
| 13 | g.32339009G= | CA2082814473 | BRCA2 | c.4654G= (p.Gly1552=) c.4285G= (p.Gly1429=) n.4654G= | |
| 13 | g.32339009G>T | CA387782213 | BRCA2 | c.4654G>T (p.Gly1552Cys) c.4285G>T (p.Gly1429Cys) n.4654G>T | dbSNP |
| 13 | g.32339010G>A | CA387782214 | BRCA2 | c.4655G>A (p.Gly1552Asp) c.4286G>A (p.Gly1429Asp) n.4655G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32339010G>C | CA387782216 | BRCA2 | c.4655G>C (p.Gly1552Ala) c.4286G>C (p.Gly1429Ala) n.4655G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339010G= | CA2082814485 | BRCA2 | c.4655G= (p.Gly1552=) c.4286G= (p.Gly1429=) n.4655G= | |
| 13 | g.32339010G>T | CA020597 | BRCA2 | c.4655G>T (p.Gly1552Val) c.4286G>T (p.Gly1429Val) n.4655G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339011T>A | CA483438080 | BRCA2 | c.4656T>A (p.Gly1552=) c.4287T>A (p.Gly1429=) n.4656T>A | dbSNP |
| 13 | g.32339011T>C | CA020602 | BRCA2 | c.4656T>C (p.Gly1552=) c.4287T>C (p.Gly1429=) n.4656T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339011T>G | CA483438081 | BRCA2 | c.4656T>G (p.Gly1552=) c.4287T>G (p.Gly1429=) n.4656T>G | dbSNP |
| 13 | g.32339011T= | CA2082814493 | BRCA2 | c.4656T= (p.Gly1552=) c.4287T= (p.Gly1429=) n.4656T= | |
| 13 | g.32339011_32339013delinsTAC | CA2082814494 | BRCA2 | c.4656_4658delinsTAC (p.Gly1552=) c.4287_4289delinsTAC (p.Gly1429=) n.4656_4658delinsTAC | |
| 13 | g.32339012A>C | CA387782734 | BRCA2 | c.4657A>C (p.Thr1553Pro) c.4288A>C (p.Thr1430Pro) n.4657A>C | dbSNP |
| 13 | g.32339012A>G | CA387782736 | BRCA2 | c.4657A>G (p.Thr1553Ala) c.4288A>G (p.Thr1430Ala) n.4657A>G | ClinVar |
| 13 | g.32339012A>T | CA387782737 | BRCA2 | c.4657A>T (p.Thr1553Ser) c.4288A>T (p.Thr1430Ser) n.4657A>T | dbSNP |