Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340391_32340392insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | CA2580087783 | BRCA2 | c.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys2013Ter) c.5667_5668insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys1890Ter) n.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | ClinVar |
13 | g.32340300_32340301delinsGT | CA2082829220 | BRCA2 | c.5945_5946delinsGT (p.Ser1982=) c.5576_5577delinsGT (p.Ser1859=) n.5945_5946delinsGT | |
13 | g.32340300_32340304delinsGTGGA | CA2082829217 | BRCA2 | c.5945_5949delinsGTGGA (p.Ser1982=) c.5576_5580delinsGTGGA (p.Ser1859=) n.5945_5949delinsGTGGA | |
13 | g.32340300_32340305delinsGTGGAA | CA2082829232 | BRCA2 | c.5945_5950delinsGTGGAA (p.Ser1982=) c.5576_5581delinsGTGGAA (p.Ser1859=) n.5945_5950delinsGTGGAA | |
13 | g.32340301del | CA023403 | BRCA2 | c.5946del (p.Ser1982ArgfsTer22) c.5577del (p.Ser1859ArgfsTer22) n.5946del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340301T>A | CA387787578 | BRCA2 | c.5946T>A (p.Ser1982Arg) c.5577T>A (p.Ser1859Arg) n.5946T>A | |
13 | g.32340301T>C | CA483438926 | BRCA2 | c.5946T>C (p.Ser1982=) c.5577T>C (p.Ser1859=) n.5946T>C | ClinVar dbSNP |
13 | g.32340301T>G | CA387787579 | BRCA2 | c.5946T>G (p.Ser1982Arg) c.5577T>G (p.Ser1859Arg) n.5946T>G | dbSNP |
13 | g.32340301T= | CA2581132429 | BRCA2 | c.5946T= (p.Ser1982=) c.5577T= (p.Ser1859=) n.5946T= | |
13 | g.32340301_32340302delinsTG | CA2082829252 | BRCA2 | c.5946_5947delinsTG (p.Ser1982=) c.5577_5578delinsTG (p.Ser1859=) n.5946_5947delinsTG | |
13 | g.32340301_32340304del | CA023398 | BRCA2 | c.5946_5949del (p.Ser1982ArgfsTer21) c.5577_5580del (p.Ser1859ArgfsTer21) n.5946_5949del | ClinVar dbSNP |
13 | g.32340301_32340305del | CA023400 | BRCA2 | c.5946_5950del (p.Ser1982ArgfsTer19) c.5577_5581del (p.Ser1859ArgfsTer19) n.5946_5950del | ClinVar dbSNP |
13 | g.32340302G>A | CA387787581 | BRCA2 | c.5947G>A (p.Gly1983Arg) c.5578G>A (p.Gly1860Arg) n.5947G>A | ClinVar dbSNP |
13 | g.32340302G>C | CA387787582 | BRCA2 | c.5947G>C (p.Gly1983Arg) c.5578G>C (p.Gly1860Arg) n.5947G>C | |
13 | g.32340302G= | CA2082829267 | BRCA2 | c.5947G= (p.Gly1983=) c.5578G= (p.Gly1860=) n.5947G= | |
13 | g.32340302G>T | CA387787580 | BRCA2 | c.5947G>T (p.Gly1983Ter) c.5578G>T (p.Gly1860Ter) n.5947G>T | ClinVar dbSNP |
13 | g.32340303del | CA10589338 | BRCA2 | c.5948del (p.Gly1983GlufsTer21) c.5579del (p.Gly1860GlufsTer21) n.5948del | ClinVar dbSNP |
13 | g.32340303G>A | CA387787583 | BRCA2 | c.5948G>A (p.Gly1983Glu) c.5579G>A (p.Gly1860Glu) n.5948G>A | dbSNP |
13 | g.32340303G>C | CA387787584 | BRCA2 | c.5948G>C (p.Gly1983Ala) c.5579G>C (p.Gly1860Ala) n.5948G>C | dbSNP |
13 | g.32340303G>T | CA387787585 | BRCA2 | c.5948G>T (p.Gly1983Val) c.5579G>T (p.Gly1860Val) n.5948G>T | dbSNP |
13 | g.32340303_32340305delinsGAA | CA2082829279 | BRCA2 | c.5948_5950delinsGAA (p.Gly1983=) c.5579_5581delinsGAA (p.Gly1860=) n.5948_5950delinsGAA | |
13 | g.32340304A= | CA2082829290 | BRCA2 | c.5949A= (p.Gly1983=) c.5580A= (p.Gly1860=) n.5949A= | |
13 | g.32340304A>C | CA483438929 | BRCA2 | c.5949A>C (p.Gly1983=) c.5580A>C (p.Gly1860=) n.5949A>C | |
13 | g.32340304A>G | CA483438930 | BRCA2 | c.5949A>G (p.Gly1983=) c.5580A>G (p.Gly1860=) n.5949A>G | ClinVar dbSNP |
13 | g.32340304A>T | CA483438931 | BRCA2 | c.5949A>T (p.Gly1983=) c.5580A>T (p.Gly1860=) n.5949A>T | dbSNP |
13 | g.32340307dup | CA023405 | BRCA2 | c.5952dup (p.Ser1985IlefsTer18) c.5583dup (p.Ser1862IlefsTer18) n.5952dup | ClinVar dbSNP |
13 | g.32340307del | CA2739291768 | BRCA2 | c.5952del (p.Lys1984AsnfsTer20) c.5583del (p.Lys1861AsnfsTer20) n.5952del | |
13 | g.32340306_32340307del | CA919242604 | BRCA2 | c.5951_5952del (p.Lys1984IlefsTer18) c.5582_5583del (p.Lys1861IlefsTer18) n.5951_5952del | dbSNP |
13 | g.32340305A>C | CA387787586 | BRCA2 | c.5950A>C (p.Lys1984Gln) c.5581A>C (p.Lys1861Gln) n.5950A>C | |
13 | g.32340305A>G | CA387787587 | BRCA2 | c.5950A>G (p.Lys1984Glu) c.5581A>G (p.Lys1861Glu) n.5950A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340305A>T | CA387787588 | BRCA2 | c.5950A>T (p.Lys1984Ter) c.5581A>T (p.Lys1861Ter) n.5950A>T | dbSNP |
13 | g.32340306A= | CA2082808495 | BRCA2 | c.5951A= (p.Lys1984=) c.5582A= (p.Lys1861=) n.5951A= | |
13 | g.32340306A>C | CA387787589 | BRCA2 | c.5951A>C (p.Lys1984Thr) c.5582A>C (p.Lys1861Thr) n.5951A>C | |
13 | g.32340306A>G | CA6940917 | BRCA2 | c.5951A>G (p.Lys1984Arg) c.5582A>G (p.Lys1861Arg) n.5951A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340306A>T | CA387787590 | BRCA2 | c.5951A>T (p.Lys1984Ile) c.5582A>T (p.Lys1861Ile) n.5951A>T | dbSNP |
13 | g.32340307A= | CA2082808510 | BRCA2 | c.5952A= (p.Lys1984=) c.5583A= (p.Lys1861=) n.5952A= | |
13 | g.32340307A>C | CA387787591 | BRCA2 | c.5952A>C (p.Lys1984Asn) c.5583A>C (p.Lys1861Asn) n.5952A>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340307A>G | CA023407 | BRCA2 | c.5952A>G (p.Lys1984=) c.5583A>G (p.Lys1861=) n.5952A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340307A>T | CA387787592 | BRCA2 | c.5952A>T (p.Lys1984Asn) c.5583A>T (p.Lys1861Asn) n.5952A>T | dbSNP |
13 | g.32340307_32340309delinsATC | CA2082808505 | BRCA2 | c.5952_5954delinsATC (p.Lys1984=) c.5583_5585delinsATC (p.Lys1861=) n.5952_5954delinsATC | |
13 | g.32340308T>A | CA387787595 | BRCA2 | c.5953T>A (p.Ser1985Thr) c.5584T>A (p.Ser1862Thr) n.5953T>A | dbSNP |
13 | g.32340308T>C | CA387787593 | BRCA2 | c.5953T>C (p.Ser1985Pro) c.5584T>C (p.Ser1862Pro) n.5953T>C | |
13 | g.32340308T>G | CA387787594 | BRCA2 | c.5953T>G (p.Ser1985Ala) c.5584T>G (p.Ser1862Ala) n.5953T>G | dbSNP |
13 | g.32340309_32340310del | CA023409 | BRCA2 | c.5954_5955del (p.Ser1985CysfsTer17) c.5585_5586del (p.Ser1862CysfsTer17) n.5954_5955del | ClinVar dbSNP |
13 | g.32340309C>A | CA387787596 | BRCA2 | c.5954C>A (p.Ser1985Tyr) c.5585C>A (p.Ser1862Tyr) n.5954C>A | ClinVar dbSNP |
13 | g.32340309C= | CA2082808534 | BRCA2 | c.5954C= (p.Ser1985=) c.5585C= (p.Ser1862=) n.5954C= | |
13 | g.32340309C>G | CA387787597 | BRCA2 | c.5954C>G (p.Ser1985Cys) c.5585C>G (p.Ser1862Cys) n.5954C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340309C>T | CA387787598 | BRCA2 | c.5954C>T (p.Ser1985Phe) c.5585C>T (p.Ser1862Phe) n.5954C>T | dbSNP |
13 | g.32340310T>A | CA483438935 | BRCA2 | c.5955T>A (p.Ser1985=) c.5586T>A (p.Ser1862=) n.5955T>A | dbSNP |