Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
13 | g.32339564_32339628dup | CA915948485 | BRCA2 | c.5209_5273dup (p.Asn1758LysfsTer5) c.4840_4904dup (p.Asn1635LysfsTer5) n.5209_5273dup | ClinVar dbSNP |
13 | g.32339605del | CA021855 | BRCA2 | c.5250del (p.Tyr1751ThrfsTer26) c.4881del (p.Tyr1628ThrfsTer26) n.5250del | ClinVar dbSNP |
13 | g.32339605C>A | CA483438464 | BRCA2 | c.5250C>A (p.Ser1750=) c.4881C>A (p.Ser1627=) n.5250C>A | dbSNP |
13 | g.32339605C>G | CA483438465 | BRCA2 | c.5250C>G (p.Ser1750=) c.4881C>G (p.Ser1627=) n.5250C>G | dbSNP |
13 | g.32339605C>T | CA483438466 | BRCA2 | c.5250C>T (p.Ser1750=) c.4881C>T (p.Ser1627=) n.5250C>T | dbSNP |
13 | g.32339606T>A | CA387784704 | BRCA2 | c.5251T>A (p.Tyr1751Asn) c.4882T>A (p.Tyr1628Asn) n.5251T>A | dbSNP |
13 | g.32339606T>C | CA387784702 | BRCA2 | c.5251T>C (p.Tyr1751His) c.4882T>C (p.Tyr1628His) n.5251T>C | dbSNP |
13 | g.32339606T>G | CA387784703 | BRCA2 | c.5251T>G (p.Tyr1751Asp) c.4882T>G (p.Tyr1628Asp) n.5251T>G | |
13 | g.32339607A= | CA2082820992 | BRCA2 | c.5252A= (p.Tyr1751=) c.4883A= (p.Tyr1628=) n.5252A= | |
13 | g.32339607A>C | CA387784705 | BRCA2 | c.5252A>C (p.Tyr1751Ser) c.4883A>C (p.Tyr1628Ser) n.5252A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339607A>G | CA387784706 | BRCA2 | c.5252A>G (p.Tyr1751Cys) c.4883A>G (p.Tyr1628Cys) n.5252A>G | ClinVar |
13 | g.32339607A>T | CA387784707 | BRCA2 | c.5252A>T (p.Tyr1751Phe) c.4883A>T (p.Tyr1628Phe) n.5252A>T | |
13 | g.32339607_32339608delinsAC | CA2082820991 | BRCA2 | c.5252_5253delinsAC (p.Tyr1751=) c.4883_4884delinsAC (p.Tyr1628=) n.5252_5253delinsAC | |
13 | g.32339608C>A | CA387784708 | BRCA2 | c.5253C>A (p.Tyr1751Ter) c.4884C>A (p.Tyr1628Ter) n.5253C>A | ClinVar dbSNP |
13 | g.32339608C= | CA2082821003 | BRCA2 | c.5253C= (p.Tyr1751=) c.4884C= (p.Tyr1628=) n.5253C= | |
13 | g.32339608C>G | CA387784709 | BRCA2 | c.5253C>G (p.Tyr1751Ter) c.4884C>G (p.Tyr1628Ter) n.5253C>G | dbSNP |
13 | g.32339608C>T | CA483438468 | BRCA2 | c.5253C>T (p.Tyr1751=) c.4884C>T (p.Tyr1628=) n.5253C>T | ClinVar dbSNP |
13 | g.32339609del | CA021869 | BRCA2 | c.5254del (p.His1752IlefsTer25) c.4885del (p.His1629IlefsTer25) n.5254del | ClinVar dbSNP |
13 | g.32339609C>A | CA387784710 | BRCA2 | c.5254C>A (p.His1752Asn) c.4885C>A (p.His1629Asn) n.5254C>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32339609C= | CA2082821014 | BRCA2 | c.5254C= (p.His1752=) c.4885C= (p.His1629=) n.5254C= | |
13 | g.32339609C>G | CA387784711 | BRCA2 | c.5254C>G (p.His1752Asp) c.4885C>G (p.His1629Asp) n.5254C>G | dbSNP |
13 | g.32339609C>T | CA021863 | BRCA2 | c.5254C>T (p.His1752Tyr) c.4885C>T (p.His1629Tyr) n.5254C>T | ClinVar dbSNP |
13 | g.32339610A= | CA2082821019 | BRCA2 | c.5255A= (p.His1752=) c.4886A= (p.His1629=) n.5255A= | |
13 | g.32339610A>C | CA387784712 | BRCA2 | c.5255A>C (p.His1752Pro) c.4886A>C (p.His1629Pro) n.5255A>C | |
13 | g.32339610A>G | CA387784713 | BRCA2 | c.5255A>G (p.His1752Arg) c.4886A>G (p.His1629Arg) n.5255A>G | dbSNP gnomAD v2 |
13 | g.32339610A>T | CA387784714 | BRCA2 | c.5255A>T (p.His1752Leu) c.4886A>T (p.His1629Leu) n.5255A>T | |
13 | g.32339611T>A | CA387784715 | BRCA2 | c.5256T>A (p.His1752Gln) c.4887T>A (p.His1629Gln) n.5256T>A | dbSNP |
13 | g.32339611T>C | CA483438473 | BRCA2 | c.5256T>C (p.His1752=) c.4887T>C (p.His1629=) n.5256T>C | dbSNP gnomAD v4 |
13 | g.32339611T>G | CA387784716 | BRCA2 | c.5256T>G (p.His1752Gln) c.4887T>G (p.His1629Gln) n.5256T>G | |
13 | g.32339612T>A | CA387784717 | BRCA2 | c.5257T>A (p.Ser1753Thr) c.4888T>A (p.Ser1630Thr) n.5257T>A | dbSNP |
13 | g.32339612T>C | CA387784718 | BRCA2 | c.5257T>C (p.Ser1753Pro) c.4888T>C (p.Ser1630Pro) n.5257T>C | dbSNP |
13 | g.32339612T>G | CA387784719 | BRCA2 | c.5257T>G (p.Ser1753Ala) c.4888T>G (p.Ser1630Ala) n.5257T>G | |
13 | g.32339613C>A | CA387784720 | BRCA2 | c.5258C>A (p.Ser1753Tyr) c.4889C>A (p.Ser1630Tyr) n.5258C>A | dbSNP |
13 | g.32339613C= | CA2082821024 | BRCA2 | c.5258C= (p.Ser1753=) c.4889C= (p.Ser1630=) n.5258C= | |
13 | g.32339613C>G | CA387784721 | BRCA2 | c.5258C>G (p.Ser1753Cys) c.4889C>G (p.Ser1630Cys) n.5258C>G | dbSNP gnomAD v4 |
13 | g.32339613C>T | CA387784722 | BRCA2 | c.5258C>T (p.Ser1753Phe) c.4889C>T (p.Ser1630Phe) n.5258C>T | ClinVar dbSNP |
13 | g.32339614T>A | CA483438478 | BRCA2 | c.5259T>A (p.Ser1753=) c.4890T>A (p.Ser1630=) n.5259T>A | dbSNP |
13 | g.32339614T>C | CA483438479 | BRCA2 | c.5259T>C (p.Ser1753=) c.4890T>C (p.Ser1630=) n.5259T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339614T>G | CA483438480 | BRCA2 | c.5259T>G (p.Ser1753=) c.4890T>G (p.Ser1630=) n.5259T>G | |
13 | g.32339615G>A | CA387784724 | BRCA2 | c.5260G>A (p.Asp1754Asn) c.4891G>A (p.Asp1631Asn) n.5260G>A | ClinVar dbSNP |
13 | g.32339615G>C | CA6940860 | BRCA2 | c.5260G>C (p.Asp1754His) c.4891G>C (p.Asp1631His) n.5260G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339615G= | CA2082821032 | BRCA2 | c.5260G= (p.Asp1754=) c.4891G= (p.Asp1631=) n.5260G= | |
13 | g.32339615G>T | CA387784723 | BRCA2 | c.5260G>T (p.Asp1754Tyr) c.4891G>T (p.Asp1631Tyr) n.5260G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339616A= | CA2082821040 | BRCA2 | c.5261A= (p.Asp1754=) c.4892A= (p.Asp1631=) n.5261A= | |
13 | g.32339616A>C | CA247509846 | BRCA2 | c.5261A>C (p.Asp1754Ala) c.4892A>C (p.Asp1631Ala) n.5261A>C | dbSNP |
13 | g.32339616A>G | CA6940861 | BRCA2 | c.5261A>G (p.Asp1754Gly) c.4892A>G (p.Asp1631Gly) n.5261A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339616A>T | CA387784725 | BRCA2 | c.5261A>T (p.Asp1754Val) c.4892A>T (p.Asp1631Val) n.5261A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339617T>A | CA387784726 | BRCA2 | c.5262T>A (p.Asp1754Glu) c.4893T>A (p.Asp1631Glu) n.5262T>A | dbSNP |
13 | g.32339617T>C | CA483438482 | BRCA2 | c.5262T>C (p.Asp1754=) c.4893T>C (p.Asp1631=) n.5262T>C | dbSNP |