| 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.32340356del | CA023500 | BRCA2 | c.6001del (p.Ser2001LeufsTer3) c.5632del (p.Ser1878LeufsTer3) n.6001del | ClinVar dbSNP |
| 13 | g.32340355_32340356del | CA1139771862 | BRCA2 | c.6000_6001del (p.Ser2001Ter) c.5631_5632del (p.Ser1878Ter) n.6000_6001del | |
| 13 | g.32340355T>A | CA387787675 | BRCA2 | c.6000T>A (p.Phe2000Leu) c.5631T>A (p.Phe1877Leu) n.6000T>A | dbSNP |
| 13 | g.32340355T>C | CA483438959 | BRCA2 | c.6000T>C (p.Phe2000=) c.5631T>C (p.Phe1877=) n.6000T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340355T>G | CA387787676 | BRCA2 | c.6000T>G (p.Phe2000Leu) c.5631T>G (p.Phe1877Leu) n.6000T>G | |
| 13 | g.32340355T= | CA2082809063 | BRCA2 | c.6000T= (p.Phe2000=) c.5631T= (p.Phe1877=) n.6000T= | |
| 13 | g.32340356T>A | CA387787677 | BRCA2 | c.6001T>A (p.Ser2001Thr) c.5632T>A (p.Ser1878Thr) n.6001T>A | |
| 13 | g.32340356T>C | CA387787678 | BRCA2 | c.6001T>C (p.Ser2001Pro) c.5632T>C (p.Ser1878Pro) n.6001T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340356T>G | CA247512238 | BRCA2 | c.6001T>G (p.Ser2001Ala) c.5632T>G (p.Ser1878Ala) n.6001T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340356T= | CA2082809070 | BRCA2 | c.6001T= (p.Ser2001=) c.5632T= (p.Ser1878=) n.6001T= | |
| 13 | g.32340357C>A | CA387787679 | BRCA2 | c.6002C>A (p.Ser2001Tyr) c.5633C>A (p.Ser1878Tyr) n.6002C>A | |
| 13 | g.32340357C>G | CA387787680 | BRCA2 | c.6002C>G (p.Ser2001Cys) c.5633C>G (p.Ser1878Cys) n.6002C>G | dbSNP |
| 13 | g.32340357C>T | CA387787681 | BRCA2 | c.6002C>T (p.Ser2001Phe) c.5633C>T (p.Ser1878Phe) n.6002C>T | dbSNP |
| 13 | g.32340358T>A | CA483438962 | BRCA2 | c.6003T>A (p.Ser2001=) c.5634T>A (p.Ser1878=) n.6003T>A | dbSNP |
| 13 | g.32340358T>C | CA483438961 | BRCA2 | c.6003T>C (p.Ser2001=) c.5634T>C (p.Ser1878=) n.6003T>C | |
| 13 | g.32340358T>G | CA483438960 | BRCA2 | c.6003T>G (p.Ser2001=) c.5634T>G (p.Ser1878=) n.6003T>G | |
| 13 | g.32340359G>A | CA387787682 | BRCA2 | c.6004G>A (p.Glu2002Lys) c.5635G>A (p.Glu1879Lys) n.6004G>A | dbSNP |
| 13 | g.32340359G>C | CA387787683 | BRCA2 | c.6004G>C (p.Glu2002Gln) c.5635G>C (p.Glu1879Gln) n.6004G>C | dbSNP |
| 13 | g.32340359G>T | CA387787684 | BRCA2 | c.6004G>T (p.Glu2002Ter) c.5635G>T (p.Glu1879Ter) n.6004G>T | dbSNP |
| 13 | g.32340359_32340360delinsGA | CA2082809075 | BRCA2 | c.6004_6005delinsGA (p.Glu2002=) c.5635_5636delinsGA (p.Glu1879=) n.6004_6005delinsGA | |
| 13 | g.32340360A= | CA2082809091 | BRCA2 | c.6005A= (p.Glu2002=) c.5636A= (p.Glu1879=) n.6005A= | |
| 13 | g.32340360A>C | CA387787685 | BRCA2 | c.6005A>C (p.Glu2002Ala) c.5636A>C (p.Glu1879Ala) n.6005A>C | ClinVar dbSNP |
| 13 | g.32340360A>G | CA387787686 | BRCA2 | c.6005A>G (p.Glu2002Gly) c.5636A>G (p.Glu1879Gly) n.6005A>G | dbSNP |
| 13 | g.32340360A>T | CA387787687 | BRCA2 | c.6005A>T (p.Glu2002Val) c.5636A>T (p.Glu1879Val) n.6005A>T | dbSNP |
| 13 | g.32340362del | CA915948504 | BRCA2 | c.6007del (p.Ile2003Ter) c.5638del (p.Ile1880Ter) n.6007del | ClinVar dbSNP |
| 13 | g.32340361A>C | CA387787688 | BRCA2 | c.6006A>C (p.Glu2002Asp) c.5637A>C (p.Glu1879Asp) n.6006A>C | |
| 13 | g.32340361A>G | CA483438963 | BRCA2 | c.6006A>G (p.Glu2002=) c.5637A>G (p.Glu1879=) n.6006A>G | |
| 13 | g.32340361A>T | CA387787689 | BRCA2 | c.6006A>T (p.Glu2002Asp) c.5637A>T (p.Glu1879Asp) n.6006A>T | dbSNP |
| 13 | g.32340361_32340368delinsAATAGAAG | CA2082809099 | BRCA2 | c.6006_6013delinsAATAGAAG (p.Glu2002=) c.5637_5644delinsAATAGAAG (p.Glu1879=) n.6006_6013delinsAATAGAAG | |
| 13 | g.32340362A= | CA2082809115 | BRCA2 | c.6007A= (p.Ile2003=) c.5638A= (p.Ile1880=) n.6007A= | |
| 13 | g.32340362A>C | CA387787692 | BRCA2 | c.6007A>C (p.Ile2003Leu) c.5638A>C (p.Ile1880Leu) n.6007A>C | |
| 13 | g.32340362A>G | CA387787691 | BRCA2 | c.6007A>G (p.Ile2003Val) c.5638A>G (p.Ile1880Val) n.6007A>G | ClinVar dbSNP |
| 13 | g.32340362A>T | CA387787690 | BRCA2 | c.6007A>T (p.Ile2003Leu) c.5638A>T (p.Ile1880Leu) n.6007A>T | |
| 13 | g.32340362_32340363delinsAT | CA2082809113 | BRCA2 | c.6007_6008delinsAT (p.Ile2003=) c.5638_5639delinsAT (p.Ile1880=) n.6007_6008delinsAT | |
| 13 | g.32340366_32340372del | CA023508 | BRCA2 | c.6011_6017del (p.Glu2004ValfsTer?) c.5642_5648del (p.Glu1881ValfsTer?) n.6011_6017del | ClinVar dbSNP |
| 13 | g.32340363del | CA10586549 | BRCA2 | c.6008del (p.Ile2003LysfsTer?) c.5639del (p.Ile1880LysfsTer?) n.6008del | ClinVar dbSNP |
| 13 | g.32340363T>A | CA387787693 | BRCA2 | c.6008T>A (p.Ile2003Lys) c.5639T>A (p.Ile1880Lys) n.6008T>A | dbSNP |
| 13 | g.32340363T>C | CA023504 | BRCA2 | c.6008T>C (p.Ile2003Thr) c.5639T>C (p.Ile1880Thr) n.6008T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340363T>G | CA387787694 | BRCA2 | c.6008T>G (p.Ile2003Arg) c.5639T>G (p.Ile1880Arg) n.6008T>G | ClinVar dbSNP |
| 13 | g.32340363T= | CA2082809127 | BRCA2 | c.6008T= (p.Ile2003=) c.5639T= (p.Ile1880=) n.6008T= | |
| 13 | g.32340363_32340368delinsTAGAAG | CA2082809128 | BRCA2 | c.6008_6013delinsTAGAAG (p.Ile2003=) c.5639_5644delinsTAGAAG (p.Ile1880=) n.6008_6013delinsTAGAAG | |
| 13 | g.32340364A= | CA2082809145 | BRCA2 | c.6009A= (p.Ile2003=) c.5640A= (p.Ile1880=) n.6009A= | |
| 13 | g.32340364A>C | CA483438964 | BRCA2 | c.6009A>C (p.Ile2003=) c.5640A>C (p.Ile1880=) n.6009A>C | |
| 13 | g.32340364A>G | CA387787695 | BRCA2 | c.6009A>G (p.Ile2003Met) c.5640A>G (p.Ile1880Met) n.6009A>G | |
| 13 | g.32340364A>T | CA483438965 | BRCA2 | c.6009A>T (p.Ile2003=) c.5640A>T (p.Ile1880=) n.6009A>T | ClinVar dbSNP |
| 13 | g.32340367_32340369del | CA6940924 | BRCA2 | c.6012_6014del (p.Glu2004del) c.5643_5645del (p.Glu1881del) n.6012_6014del | ClinVar 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.32340365G>A | CA387787701 | BRCA2 | c.6010G>A (p.Glu2004Lys) c.5641G>A (p.Glu1881Lys) n.6010G>A | dbSNP |