| 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.32340361_32340368delinsAATAGAAG | CA2082809099 | BRCA2 | c.6006_6013delinsAATAGAAG (p.Glu2002=) c.5637_5644delinsAATAGAAG (p.Glu1879=) n.6006_6013delinsAATAGAAG | |
| 13 | g.32340366_32340372del | CA023508 | BRCA2 | c.6011_6017del (p.Glu2004ValfsTer?) c.5642_5648del (p.Glu1881ValfsTer?) n.6011_6017del | ClinVar dbSNP |
| 13 | g.32340363_32340368delinsTAGAAG | CA2082809128 | BRCA2 | c.6008_6013delinsTAGAAG (p.Ile2003=) c.5639_5644delinsTAGAAG (p.Ile1880=) n.6008_6013delinsTAGAAG | |
| 13 | g.32340367_32340369del | CA6940924 | BRCA2 | c.6012_6014del (p.Glu2004del) c.5643_5645del (p.Glu1881del) n.6012_6014del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340365_32340369del | CA10589344 | BRCA2 | c.6010_6014del (p.Glu2004Ter) c.5641_5645del (p.Glu1881Ter) n.6010_6014del | ClinVar dbSNP |
| 13 | g.32340365_32340370delinsGAAGAT | CA2082809156 | BRCA2 | c.6010_6015delinsGAAGAT (p.Glu2004=) c.5641_5646delinsGAAGAT (p.Glu1881=) n.6010_6015delinsGAAGAT | |
| 13 | g.32340366_32340370delinsAAGAT | CA2082809168 | BRCA2 | c.6011_6015delinsAAGAT (p.Glu2004=) c.5642_5646delinsAAGAT (p.Glu1881=) n.6011_6015delinsAAGAT | |
| 13 | g.32340367_32340371del | CA10589345 | BRCA2 | c.6012_6016del (p.Asp2005TyrfsTer11) c.5643_5647del (p.Asp1882TyrfsTer11) n.6012_6016del | ClinVar dbSNP |
| 13 | g.32340367A= | CA2082809185 | BRCA2 | c.6012A= (p.Glu2004=) c.5643A= (p.Glu1881=) n.6012A= | |
| 13 | g.32340367A>C | CA387787711 | BRCA2 | c.6012A>C (p.Glu2004Asp) c.5643A>C (p.Glu1881Asp) n.6012A>C | |
| 13 | g.32340367A>G | CA023513 | BRCA2 | c.6012A>G (p.Glu2004=) c.5643A>G (p.Glu1881=) n.6012A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340367A>T | CA387787709 | BRCA2 | c.6012A>T (p.Glu2004Asp) c.5643A>T (p.Glu1881Asp) n.6012A>T | dbSNP |
| 13 | g.32340369_32340372del | CA16043339 | BRCA2 | c.6014_6017del (p.Asp2005ValfsTer?) c.5645_5648del (p.Asp1882ValfsTer?) n.6014_6017del | ClinVar dbSNP |
| 13 | g.32340368G>A | CA387787714 | BRCA2 | c.6013G>A (p.Asp2005Asn) c.5644G>A (p.Asp1882Asn) n.6013G>A | dbSNP |
| 13 | g.32340368G>C | CA387787715 | BRCA2 | c.6013G>C (p.Asp2005His) c.5644G>C (p.Asp1882His) n.6013G>C | dbSNP |
| 13 | g.32340368G= | CA2082809191 | BRCA2 | c.6013G= (p.Asp2005=) c.5644G= (p.Asp1882=) n.6013G= | |
| 13 | g.32340368G>T | CA023516 | BRCA2 | c.6013G>T (p.Asp2005Tyr) c.5644G>T (p.Asp1882Tyr) n.6013G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340370_32340414dup | CA2573149399 | BRCA2 | c.6015_6059dup (p.Asn2019_Glu2020insAspSerThrLysGlnValPheSerLysValLeuPheLysSerAsn) c.5646_5690dup (p.Asn1896_Glu1897insAspSerThrLysGlnValPheSerLysValLeuPheLysSerAsn) n.6015_6059dup | ClinVar dbSNP |
| 13 | g.32340369del | CA2499222220 | BRCA2 | c.6014del (p.Asp2005ValfsTer?) c.5645del (p.Asp1882ValfsTer?) n.6014del | ClinVar dbSNP |
| 13 | g.32340369A= | CA2082809201 | BRCA2 | c.6014A= (p.Asp2005=) c.5645A= (p.Asp1882=) n.6014A= | |
| 13 | g.32340369A>C | CA387787717 | BRCA2 | c.6014A>C (p.Asp2005Ala) c.5645A>C (p.Asp1882Ala) n.6014A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340369A>G | CA10579674 | BRCA2 | c.6014A>G (p.Asp2005Gly) c.5645A>G (p.Asp1882Gly) n.6014A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340369A>T | CA387787720 | BRCA2 | c.6014A>T (p.Asp2005Val) c.5645A>T (p.Asp1882Val) n.6014A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340370T>A | CA387787722 | BRCA2 | c.6015T>A (p.Asp2005Glu) c.5646T>A (p.Asp1882Glu) n.6015T>A | ClinVar dbSNP |
| 13 | g.32340370T>C | CA483438966 | BRCA2 | c.6015T>C (p.Asp2005=) c.5646T>C (p.Asp1882=) n.6015T>C | dbSNP |
| 13 | g.32340370T>G | CA387787723 | BRCA2 | c.6015T>G (p.Asp2005Glu) c.5646T>G (p.Asp1882Glu) n.6015T>G | dbSNP |
| 13 | g.32340370_32340374delinsTAGTA | CA2082809213 | BRCA2 | c.6015_6019delinsTAGTA (p.Asp2005=) c.5646_5650delinsTAGTA (p.Asp1882=) n.6015_6019delinsTAGTA | |
| 13 | g.32340371A= | CA2082809224 | BRCA2 | c.6016A= (p.Ser2006=) c.5647A= (p.Ser1883=) n.6016A= | |
| 13 | g.32340371A>C | CA387787725 | BRCA2 | c.6016A>C (p.Ser2006Arg) c.5647A>C (p.Ser1883Arg) n.6016A>C | |
| 13 | g.32340371A>G | CA387787727 | BRCA2 | c.6016A>G (p.Ser2006Gly) c.5647A>G (p.Ser1883Gly) n.6016A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340371A>T | CA387787729 | BRCA2 | c.6016A>T (p.Ser2006Cys) c.5647A>T (p.Ser1883Cys) n.6016A>T | dbSNP |
| 13 | g.32340371_32340374del | CA10589346 | BRCA2 | c.6016_6019del (p.Ser2006ProfsTer?) c.5647_5650del (p.Ser1883ProfsTer?) n.6016_6019del | ClinVar dbSNP |
| 13 | g.32340372del | CA2580087784 | BRCA2 | c.6017del (p.Ser2006IlefsTer?) c.5648del (p.Ser1883IlefsTer?) n.6017del | ClinVar |
| 13 | g.32340372G>A | CA387787732 | BRCA2 | c.6017G>A (p.Ser2006Asn) c.5648G>A (p.Ser1883Asn) n.6017G>A | dbSNP |
| 13 | g.32340372G>C | CA023520 | BRCA2 | c.6017G>C (p.Ser2006Thr) c.5648G>C (p.Ser1883Thr) n.6017G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340372G= | CA2082809227 | BRCA2 | c.6017G= (p.Ser2006=) c.5648G= (p.Ser1883=) n.6017G= | |
| 13 | g.32340372G>T | CA387787734 | BRCA2 | c.6017G>T (p.Ser2006Ile) c.5648G>T (p.Ser1883Ile) n.6017G>T | |
| 13 | g.32340373T>A | CA023523 | BRCA2 | c.6018T>A (p.Ser2006Arg) c.5649T>A (p.Ser1883Arg) n.6018T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340373T>C | CA483438967 | BRCA2 | c.6018T>C (p.Ser2006=) c.5649T>C (p.Ser1883=) n.6018T>C | ClinVar dbSNP |
| 13 | g.32340373T>G | CA387787738 | BRCA2 | c.6018T>G (p.Ser2006Arg) c.5649T>G (p.Ser1883Arg) n.6018T>G | dbSNP |
| 13 | g.32340373T= | CA2082809238 | BRCA2 | c.6018T= (p.Ser2006=) c.5649T= (p.Ser1883=) n.6018T= | |
| 13 | g.32340373dup | CA919242624 | BRCA2 | c.6018dup (p.Thr2007TyrfsTer11) c.5649dup (p.Thr1884TyrfsTer11) n.6018dup | dbSNP |
| 13 | g.32340373_32340374dup | CA023526 | BRCA2 | c.6018_6019dup (p.Thr2007IlefsTer?) c.5649_5650dup (p.Thr1884IlefsTer?) n.6018_6019dup | ClinVar dbSNP |
| 13 | g.32340374A>C | CA387787740 | BRCA2 | c.6019A>C (p.Thr2007Pro) c.5650A>C (p.Thr1884Pro) n.6019A>C | |
| 13 | g.32340374A>G | CA387787742 | BRCA2 | c.6019A>G (p.Thr2007Ala) c.5650A>G (p.Thr1884Ala) n.6019A>G | ClinVar |
| 13 | g.32340374A>T | CA387787744 | BRCA2 | c.6019A>T (p.Thr2007Ser) c.5650A>T (p.Thr1884Ser) n.6019A>T | |
| 13 | g.32340375C>A | CA023530 | BRCA2 | c.6020C>A (p.Thr2007Asn) c.5651C>A (p.Thr1884Asn) n.6020C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340375C= | CA2082809252 | BRCA2 | c.6020C= (p.Thr2007=) c.5651C= (p.Thr1884=) n.6020C= |