Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339243_32339296del | CA2697551768 | BRCA2 | c.4888_4941del (p.Ser1630_Thr1647del) c.4519_4572del (p.Ser1507_Thr1524del) n.4888_4941del | ClinVar |
13 | g.32339247_32339291delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG | CA2082816821 | BRCA2 | c.4892_4936delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG (p.Lys1631=) c.4523_4567delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG (p.Lys1508=) n.4892_4936delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG | |
13 | g.32339250_32339293del | CA913190948 | BRCA2 | c.4895_4938del (p.Ser1632AsnfsTer19) c.4526_4569del (p.Ser1509AsnfsTer19) n.4895_4938del | ClinVar dbSNP |
13 | g.32339270G>A | CA020999 | BRCA2 | c.4915G>A (p.Val1639Ile) c.4546G>A (p.Val1516Ile) n.4915G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339270G>C | CA387783602 | BRCA2 | c.4915G>C (p.Val1639Leu) c.4546G>C (p.Val1516Leu) n.4915G>C | ClinVar dbSNP |
13 | g.32339270G= | CA2082817083 | BRCA2 | c.4915G= (p.Val1639=) c.4546G= (p.Val1516=) n.4915G= | |
13 | g.32339270G>T | CA387783603 | BRCA2 | c.4915G>T (p.Val1639Leu) c.4546G>T (p.Val1516Leu) n.4915G>T | ClinVar dbSNP |
13 | g.32339271T>A | CA387783605 | BRCA2 | c.4916T>A (p.Val1639Glu) c.4547T>A (p.Val1516Glu) n.4916T>A | dbSNP |
13 | g.32339271T>C | CA387783607 | BRCA2 | c.4916T>C (p.Val1639Ala) c.4547T>C (p.Val1516Ala) n.4916T>C | ClinVar dbSNP |
13 | g.32339271T>G | CA387783608 | BRCA2 | c.4916T>G (p.Val1639Gly) c.4547T>G (p.Val1516Gly) n.4916T>G | dbSNP |
13 | g.32339271_32339272delinsTA | CA2082817119 | BRCA2 | c.4916_4917delinsTA (p.Val1639=) c.4547_4548delinsTA (p.Val1516=) n.4916_4917delinsTA | |
13 | g.32339272del | CA021003 | BRCA2 | c.4917del (p.His1640MetfsTer4) c.4548del (p.His1517MetfsTer4) n.4917del | ClinVar dbSNP |
13 | g.32339272A>C | CA483438196 | BRCA2 | c.4917A>C (p.Val1639=) c.4548A>C (p.Val1516=) n.4917A>C | dbSNP |
13 | g.32339272A>G | CA483438199 | BRCA2 | c.4917A>G (p.Val1639=) c.4548A>G (p.Val1516=) n.4917A>G | dbSNP |
13 | g.32339272A>T | CA483438200 | BRCA2 | c.4917A>T (p.Val1639=) c.4548A>T (p.Val1516=) n.4917A>T | dbSNP |
13 | g.32339273C>A | CA387783611 | BRCA2 | c.4918C>A (p.His1640Asn) c.4549C>A (p.His1517Asn) n.4918C>A | gnomAD v4 |
13 | g.32339273C= | CA2082817133 | BRCA2 | c.4918C= (p.His1640=) c.4549C= (p.His1517=) n.4918C= | |
13 | g.32339273C>G | CA387783612 | BRCA2 | c.4918C>G (p.His1640Asp) c.4549C>G (p.His1517Asp) n.4918C>G | |
13 | g.32339273C>T | CA6940826 | BRCA2 | c.4918C>T (p.His1640Tyr) c.4549C>T (p.His1517Tyr) n.4918C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339273_32339276del | CA658761161 | BRCA2 | c.4918_4921del (p.His1640LysfsTer3) c.4549_4552del (p.His1517LysfsTer3) n.4918_4921del | |
13 | g.32339274A= | CA2082817147 | BRCA2 | c.4919A= (p.His1640=) c.4550A= (p.His1517=) n.4919A= | |
13 | g.32339274A>C | CA387783615 | BRCA2 | c.4919A>C (p.His1640Pro) c.4550A>C (p.His1517Pro) n.4919A>C | ClinVar dbSNP |
13 | g.32339274A>G | CA247508683 | BRCA2 | c.4919A>G (p.His1640Arg) c.4550A>G (p.His1517Arg) n.4919A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32339274A>T | CA387783617 | BRCA2 | c.4919A>T (p.His1640Leu) c.4550A>T (p.His1517Leu) n.4919A>T | dbSNP |
13 | g.32339275T>A | CA387783621 | BRCA2 | c.4920T>A (p.His1640Gln) c.4551T>A (p.His1517Gln) n.4920T>A | |
13 | g.32339275T>C | CA483438206 | BRCA2 | c.4920T>C (p.His1640=) c.4551T>C (p.His1517=) n.4920T>C | ClinVar dbSNP |
13 | g.32339275T>G | CA387783619 | BRCA2 | c.4920T>G (p.His1640Gln) c.4551T>G (p.His1517Gln) n.4920T>G | |
13 | g.32339275T= | CA2082817164 | BRCA2 | c.4920T= (p.His1640=) c.4551T= (p.His1517=) n.4920T= | |
13 | g.32339275_32339279delinsTGAAA | CA2082817158 | BRCA2 | c.4920_4924delinsTGAAA (p.His1640=) c.4551_4555delinsTGAAA (p.His1517=) n.4920_4924delinsTGAAA | |
13 | g.32339276G>A | CA387783623 | BRCA2 | c.4921G>A (p.Glu1641Lys) c.4552G>A (p.Glu1518Lys) n.4921G>A | |
13 | g.32339276G>C | CA387783624 | BRCA2 | c.4921G>C (p.Glu1641Gln) c.4552G>C (p.Glu1518Gln) n.4921G>C | dbSNP |
13 | g.32339276G= | CA2082817180 | BRCA2 | c.4921G= (p.Glu1641=) c.4552G= (p.Glu1518=) n.4921G= | |
13 | g.32339276G>T | CA387783625 | BRCA2 | c.4921G>T (p.Glu1641Ter) c.4552G>T (p.Glu1518Ter) n.4921G>T | ClinVar dbSNP |
13 | g.32339276_32339279del | CA021008 | BRCA2 | c.4921_4924del (p.Glu1641MetfsTer2) c.4552_4555del (p.Glu1518MetfsTer2) n.4921_4924del | ClinVar dbSNP |
13 | g.32339276_32339286delinsGAAAATGTAGA | CA2082817175 | BRCA2 | c.4921_4931delinsGAAAATGTAGA (p.Glu1641=) c.4552_4562delinsGAAAATGTAGA (p.Glu1518=) n.4921_4931delinsGAAAATGTAGA | |
13 | g.32339277A>C | CA387783628 | BRCA2 | c.4922A>C (p.Glu1641Ala) c.4553A>C (p.Glu1518Ala) n.4922A>C | |
13 | g.32339277A>G | CA387783630 | BRCA2 | c.4922A>G (p.Glu1641Gly) c.4553A>G (p.Glu1518Gly) n.4922A>G | ClinVar |
13 | g.32339277A>T | CA387783631 | BRCA2 | c.4922A>T (p.Glu1641Val) c.4553A>T (p.Glu1518Val) n.4922A>T | dbSNP |
13 | g.32339281_32339290del | CA021017 | BRCA2 | c.4926_4935del (p.Asn1642LysfsTer25) c.4557_4566del (p.Asn1519LysfsTer25) n.4926_4935del | ClinVar dbSNP |
13 | g.32339278A= | CA2082817193 | BRCA2 | c.4923A= (p.Glu1641=) c.4554A= (p.Glu1518=) n.4923A= | |
13 | g.32339278A>C | CA387783633 | BRCA2 | c.4923A>C (p.Glu1641Asp) c.4554A>C (p.Glu1518Asp) n.4923A>C | ClinVar dbSNP |
13 | g.32339278A>G | CA483438214 | BRCA2 | c.4923A>G (p.Glu1641=) c.4554A>G (p.Glu1518=) n.4923A>G | gnomAD v4 |
13 | g.32339278A>T | CA387783635 | BRCA2 | c.4923A>T (p.Glu1641Asp) c.4554A>T (p.Glu1518Asp) n.4923A>T | dbSNP |
13 | g.32339279A>C | CA387783636 | BRCA2 | c.4924A>C (p.Asn1642His) c.4555A>C (p.Asn1519His) n.4924A>C | dbSNP |
13 | g.32339279A>G | CA387783638 | BRCA2 | c.4924A>G (p.Asn1642Asp) c.4555A>G (p.Asn1519Asp) n.4924A>G | |
13 | g.32339279A>T | CA387783639 | BRCA2 | c.4924A>T (p.Asn1642Tyr) c.4555A>T (p.Asn1519Tyr) n.4924A>T | dbSNP |
13 | g.32339280A= | CA2082817201 | BRCA2 | c.4925A= (p.Asn1642=) c.4556A= (p.Asn1519=) n.4925A= | |
13 | g.32339280A>C | CA021014 | BRCA2 | c.4925A>C (p.Asn1642Thr) c.4556A>C (p.Asn1519Thr) n.4925A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339280A>G | CA387783641 | BRCA2 | c.4925A>G (p.Asn1642Ser) c.4556A>G (p.Asn1519Ser) n.4925A>G | gnomAD v4 |
13 | g.32339280A>T | CA387783640 | BRCA2 | c.4925A>T (p.Asn1642Ile) c.4556A>T (p.Asn1519Ile) n.4925A>T | dbSNP |