| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339236_32339248delinsCAAAACATCAAAA | CA2082816578 | BRCA2 | c.4881_4893delinsCAAAACATCAAAA (p.Leu1627=) c.4512_4524delinsCAAAACATCAAAA (p.Leu1504=) n.4881_4893delinsCAAAACATCAAAA | |
| 13 | g.32339238_32339249del | CA658656365 | BRCA2 | c.4883_4894del (p.Lys1628_Lys1631del) c.4514_4525del (p.Lys1505_Lys1508del) n.4883_4894del | ClinVar dbSNP |
| 13 | g.32339243_32339296del | CA2697551768 | BRCA2 | c.4888_4941del (p.Ser1630_Thr1647del) c.4519_4572del (p.Ser1507_Thr1524del) n.4888_4941del | ClinVar |
| 13 | g.32339242A>C | CA483438446 | BRCA2 | c.4887A>C (p.Thr1629=) c.4518A>C (p.Thr1506=) n.4887A>C | ClinVar dbSNP |
| 13 | g.32339242A>G | CA483438447 | BRCA2 | c.4887A>G (p.Thr1629=) c.4518A>G (p.Thr1506=) n.4887A>G | |
| 13 | g.32339242A>T | CA483438448 | BRCA2 | c.4887A>T (p.Thr1629=) c.4518A>T (p.Thr1506=) n.4887A>T | dbSNP |
| 13 | g.32339243del | CA2580087316 | BRCA2 | c.4888del (p.Ser1630GlnfsTer6) c.4519del (p.Ser1507GlnfsTer6) n.4888del | ClinVar |
| 13 | g.32339243T>A | CA387783513 | BRCA2 | c.4888T>A (p.Ser1630Thr) c.4519T>A (p.Ser1507Thr) n.4888T>A | dbSNP |
| 13 | g.32339243T>C | CA387783515 | BRCA2 | c.4888T>C (p.Ser1630Pro) c.4519T>C (p.Ser1507Pro) n.4888T>C | ClinVar dbSNP |
| 13 | g.32339243T>G | CA387783517 | BRCA2 | c.4888T>G (p.Ser1630Ala) c.4519T>G (p.Ser1507Ala) n.4888T>G | dbSNP |
| 13 | g.32339243T= | CA2082816785 | BRCA2 | c.4888T= (p.Ser1630=) c.4519T= (p.Ser1507=) n.4888T= | |
| 13 | g.32339244C>A | CA020952 | BRCA2 | c.4889C>A (p.Ser1630Ter) c.4520C>A (p.Ser1507Ter) n.4889C>A | ClinVar dbSNP |
| 13 | g.32339244C= | CA2082816794 | BRCA2 | c.4889C= (p.Ser1630=) c.4520C= (p.Ser1507=) n.4889C= | |
| 13 | g.32339244C>G | CA020955 | BRCA2 | c.4889C>G (p.Ser1630Ter) c.4520C>G (p.Ser1507Ter) n.4889C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339244C>T | CA387783518 | BRCA2 | c.4889C>T (p.Ser1630Leu) c.4520C>T (p.Ser1507Leu) n.4889C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339244_32339245delinsCA | CA2082816804 | BRCA2 | c.4889_4890delinsCA (p.Ser1630=) c.4520_4521delinsCA (p.Ser1507=) n.4889_4890delinsCA | |
| 13 | g.32339245A>C | CA483438450 | BRCA2 | c.4890A>C (p.Ser1630=) c.4521A>C (p.Ser1507=) n.4890A>C | |
| 13 | g.32339245A>G | CA483438451 | BRCA2 | c.4890A>G (p.Ser1630=) c.4521A>G (p.Ser1507=) n.4890A>G | ClinVar dbSNP |
| 13 | g.32339245A>T | CA483438452 | BRCA2 | c.4890A>T (p.Ser1630=) c.4521A>T (p.Ser1507=) n.4890A>T | |
| 13 | g.32339248_32339249dup | CA2622599779 | BRCA2 | c.4893_4894dup (p.Ser1632LysfsTer5) c.4524_4525dup (p.Ser1509LysfsTer5) n.4893_4894dup | gnomAD v4 |
| 13 | g.32339249del | CA658653673 | BRCA2 | c.4894del (p.Ser1632ValfsTer4) c.4525del (p.Ser1509ValfsTer4) n.4894del | ClinVar dbSNP |
| 13 | g.32339248_32339249del | CA2573149291 | BRCA2 | c.4893_4894del (p.Ser1632TyrfsTer6) c.4524_4525del (p.Ser1509TyrfsTer6) n.4893_4894del | ClinVar dbSNP |
| 13 | g.32339246A= | CA2082816813 | BRCA2 | c.4891A= (p.Lys1631=) c.4522A= (p.Lys1508=) n.4891A= | |
| 13 | g.32339246A>C | CA387783521 | BRCA2 | c.4891A>C (p.Lys1631Gln) c.4522A>C (p.Lys1508Gln) n.4891A>C | ClinVar dbSNP |
| 13 | g.32339246A>G | CA6940823 | BRCA2 | c.4891A>G (p.Lys1631Glu) c.4522A>G (p.Lys1508Glu) n.4891A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339246A>T | CA387783523 | BRCA2 | c.4891A>T (p.Lys1631Ter) c.4522A>T (p.Lys1508Ter) n.4891A>T | dbSNP |
| 13 | g.32339247A= | CA2082816824 | BRCA2 | c.4892A= (p.Lys1631=) c.4523A= (p.Lys1508=) n.4892A= | |
| 13 | g.32339247A>C | CA387783524 | BRCA2 | c.4892A>C (p.Lys1631Thr) c.4523A>C (p.Lys1508Thr) n.4892A>C | |
| 13 | g.32339247A>G | CA387783526 | BRCA2 | c.4892A>G (p.Lys1631Arg) c.4523A>G (p.Lys1508Arg) n.4892A>G | ClinVar |
| 13 | g.32339247A>T | CA020958 | BRCA2 | c.4892A>T (p.Lys1631Ile) c.4523A>T (p.Lys1508Ile) n.4892A>T | ClinVar dbSNP |
| 13 | g.32339247_32339291delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG | CA2082816821 | BRCA2 | c.4892_4936delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG (p.Lys1631=) c.4523_4567delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG (p.Lys1508=) n.4892_4936delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG | |
| 13 | g.32339248A>C | CA387783528 | BRCA2 | c.4893A>C (p.Lys1631Asn) c.4524A>C (p.Lys1508Asn) n.4893A>C | |
| 13 | g.32339248A>G | CA483438453 | BRCA2 | c.4893A>G (p.Lys1631=) c.4524A>G (p.Lys1508=) n.4893A>G | |
| 13 | g.32339248A>T | CA387783529 | BRCA2 | c.4893A>T (p.Lys1631Asn) c.4524A>T (p.Lys1508Asn) n.4893A>T | dbSNP |
| 13 | g.32339248_32339250delinsAAG | CA2082816831 | BRCA2 | c.4893_4895delinsAAG (p.Lys1631=) c.4524_4526delinsAAG (p.Lys1508=) n.4893_4895delinsAAG | |
| 13 | g.32339250_32339293del | CA913190948 | BRCA2 | c.4895_4938del (p.Ser1632AsnfsTer19) c.4526_4569del (p.Ser1509AsnfsTer19) n.4895_4938del | ClinVar dbSNP |
| 13 | g.32339249A= | CA2082816838 | BRCA2 | c.4894A= (p.Ser1632=) c.4525A= (p.Ser1509=) n.4894A= | |
| 13 | g.32339249A>C | CA020968 | BRCA2 | c.4894A>C (p.Ser1632Arg) c.4525A>C (p.Ser1509Arg) n.4894A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339249A>G | CA387783532 | BRCA2 | c.4894A>G (p.Ser1632Gly) c.4525A>G (p.Ser1509Gly) n.4894A>G | dbSNP gnomAD v4 |
| 13 | g.32339249A>T | CA387783534 | BRCA2 | c.4894A>T (p.Ser1632Cys) c.4525A>T (p.Ser1509Cys) n.4894A>T | dbSNP |
| 13 | g.32339249_32339250del | CA020961 | BRCA2 | c.4894_4895del (p.Ser1632TyrfsTer6) c.4525_4526del (p.Ser1509TyrfsTer6) n.4894_4895del | ClinVar dbSNP |
| 13 | g.32339250G>A | CA387783539 | BRCA2 | c.4895G>A (p.Ser1632Asn) c.4526G>A (p.Ser1509Asn) n.4895G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339250G>C | CA387783536 | BRCA2 | c.4895G>C (p.Ser1632Thr) c.4526G>C (p.Ser1509Thr) n.4895G>C | ClinVar dbSNP |
| 13 | g.32339250G= | CA2082816851 | BRCA2 | c.4895G= (p.Ser1632=) c.4526G= (p.Ser1509=) n.4895G= | |
| 13 | g.32339250G>T | CA387783538 | BRCA2 | c.4895G>T (p.Ser1632Ile) c.4526G>T (p.Ser1509Ile) n.4895G>T | dbSNP |
| 13 | g.32339251T>A | CA387783540 | BRCA2 | c.4896T>A (p.Ser1632Arg) c.4527T>A (p.Ser1509Arg) n.4896T>A | dbSNP |
| 13 | g.32339251T>C | CA483438455 | BRCA2 | c.4896T>C (p.Ser1632=) c.4527T>C (p.Ser1509=) n.4896T>C | ClinVar dbSNP |
| 13 | g.32339251T>G | CA387783542 | BRCA2 | c.4896T>G (p.Ser1632Arg) c.4527T>G (p.Ser1509Arg) n.4896T>G | dbSNP |
| 13 | g.32339251_32339253del | CA2528816457 | BRCA2 | c.4896_4898del (p.Ile1633del) c.4527_4529del (p.Ile1510del) n.4896_4898del | |
| 13 | g.32339252A= | CA2082816865 | BRCA2 | c.4897A= (p.Ile1633=) c.4528A= (p.Ile1510=) n.4897A= |