| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5218346_5226066del | CA916083167 | ClinVar | ||
| 11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
| 11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
| 11 | g.5225255_5225875delinsCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563432 | |||
| 11 | g.5225256_5225874delinsAAGTAG | CA658820845 | |||
| 11 | g.5225256_5225874delinsTCTACTT | CA923726280 | |||
| 11 | g.5225256_5225875delinsTCTACCT | CA915940749 | |||
| 11 | g.5225256_5225875delinsTCTACTT | CA915940716 | ClinVar dbSNP | ||
| 11 | g.5225388_5226007delinsTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAA | CA1949563581 | |||
| 11 | g.5225389_5226007del | CA916083169 | ClinVar dbSNP | ||
| 11 | g.5225465_5225726delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949563653 | HBB | c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA (n.[c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA;Leu106=]) | |
| 11 | g.5225465_5225875delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563650 | HBB | c.316-149_*133delinsTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA | |
| 11 | g.5225466_5225726del | CA916083170 | HBB | c.316_*132del (n.[c.316_*132del;Leu106=]) | ClinVar dbSNP |
| 11 | g.5225467_5225876del | CA915947982 | HBB | c.316-149_*132del | ClinVar dbSNP |
| 11 | g.5225551G>A | CA597217426 | HBB | c.*47C>T (n.*47C>T) c.*307C>T (n.*307C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225551G>C | CA1949563917 | HBB | c.*47C>G (n.*47C>G) c.*307C>G (n.*307C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225551G= | CA1949563907 | HBB | c.*47C= (n.*47C=) c.*307C= (n.*307C=) | |
| 11 | g.5225552_5225553insT | CA653938545 | HBB | c.*45_*46insA (n.*45_*46insA) c.*305_*306insA (n.*305_*306insA) | COSMIC |
| 11 | g.5225553G>A | CA2612162234 | HBB | c.*45C>T (n.*45C>T) c.*305C>T (n.*305C>T) | gnomAD v4 |
| 11 | g.5225553G>T | CA2574735560 | HBB | c.*45C>A (n.*45C>A) c.*305C>A (n.*305C>A) | gnomAD v4 |
| 11 | g.5225554A>G | CA2612162235 | HBB | c.*44T>C (n.*44T>C) c.*304T>C (n.*304T>C) | gnomAD v4 |
| 11 | g.5225555A= | CA1949563920 | HBB | c.*43T= (n.*43T=) c.*303T= (n.*303T=) | |
| 11 | g.5225555A>G | CA597217427 | HBB | c.*43T>C (n.*43T>C) c.*303T>C (n.*303T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225556C>A | CA934687304 | HBB | c.*42G>T (n.*42G>T) c.*302G>T (n.*302G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225556C= | CA1949563921 | HBB | c.*42G= (n.*42G=) c.*302G= (n.*302G=) | |
| 11 | g.5225556C>T | CA2612162236 | HBB | c.*42G>A (n.*42G>A) c.*302G>A (n.*302G>A) | gnomAD v4 |
| 11 | g.5225558A>C | CA2612162237 | HBB | c.*40T>G (n.*40T>G) c.*300T>G (n.*300T>G) | gnomAD v4 |
| 11 | g.5225559A= | CA1949563922 | HBB | c.*39T= (n.*39T=) c.*299T= (n.*299T=) | |
| 11 | g.5225559A>G | CA2612162238 | HBB | c.*39T>C (n.*39T>C) c.*299T>C (n.*299T>C) | gnomAD v4 |
| 11 | g.5225559A>T | CA1949563923 | HBB | c.*39T>A (n.*39T>A) c.*299T>A (n.*299T>A) | dbSNP |
| 11 | g.5225561G>C | CA217112147 | HBB | c.*37C>G (n.*37C>G) c.*297C>G (n.*297C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225561G= | CA1949563925 | HBB | c.*37C= (n.*37C=) c.*297C= (n.*297C=) | |
| 11 | g.5225563A>G | CA2612162239 | HBB | c.*35T>C (n.*35T>C) c.*295T>C (n.*295T>C) | gnomAD v4 |
| 11 | g.5225564C>A | CA2574735562 | HBB | c.*34G>T (n.*34G>T) c.*294G>T (n.*294G>T) | gnomAD v4 |
| 11 | g.5225564C= | CA1949563927 | HBB | c.*34G= (n.*34G=) c.*294G= (n.*294G=) | |
| 11 | g.5225564C>G | CA2574735561 | HBB | c.*34G>C (n.*34G>C) c.*294G>C (n.*294G>C) | |
| 11 | g.5225564C>T | CA5839678 | HBB | c.*34G>A (n.*34G>A) c.*294G>A (n.*294G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225565C>A | CA913190228 | HBB | c.*33G>T (n.*33G>T) c.*293G>T (n.*293G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225565C= | CA1949563929 | HBB | c.*33G= (n.*33G=) c.*293G= (n.*293G=) | |
| 11 | g.5225565C>G | CA597217428 | HBB | c.*33G>C (n.*33G>C) c.*293G>C (n.*293G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225566T>G | CA916083172 | HBB | c.*32A>C (n.*32A>C) c.*292A>C (n.*292A>C) | ClinVar dbSNP |
| 11 | g.5225566T= | CA1949563935 | HBB | c.*32A= (n.*32A=) c.*292A= (n.*292A=) | |
| 11 | g.5225570A= | CA1949563945 | HBB | c.*28T= (n.*28T=) c.*288T= (n.*288T=) | |
| 11 | g.5225570A>C | CA1949563943 | HBB | c.*28T>G (n.*28T>G) c.*288T>G (n.*288T>G) | dbSNP gnomAD v4 |
| 11 | g.5225570A>G | CA1949563940 | HBB | c.*28T>C (n.*28T>C) c.*288T>C (n.*288T>C) | dbSNP |
| 11 | g.5225571T>C | CA5839679 | HBB | c.*27A>G (n.*27A>G) c.*287A>G (n.*287A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225571T= | CA1949563950 | HBB | c.*27A= (n.*27A=) c.*287A= (n.*287A=) | |
| 11 | g.5225573G>C | CA5839680 | HBB | c.*25C>G (n.*25C>G) c.*285C>G (n.*285C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225573G= | CA1949563956 | HBB | c.*25C= (n.*25C=) c.*285C= (n.*285C=) | |
| 11 | g.5225575A>G | CA2612162245 | HBB | c.*23T>C (n.*23T>C) c.*283T>C (n.*283T>C) | gnomAD v4 |