| 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.5225542T>A | CA10635064 | HBB | c.*56A>T (n.*56A>T) c.*316A>T (n.*316A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225542T>C | CA217112125 | HBB | c.*56A>G (n.*56A>G) c.*316A>G (n.*316A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225542T= | CA1949563887 | HBB | c.*56A= (n.*56A=) c.*316A= (n.*316A=) | |
| 11 | g.5225543T>C | CA2612162222 | HBB | c.*55A>G (n.*55A>G) c.*315A>G (n.*315A>G) | gnomAD v4 |
| 11 | g.5225544G>C | CA2612162226 | HBB | c.*54C>G (n.*54C>G) c.*314C>G (n.*314C>G) | gnomAD v4 |
| 11 | g.5225544G>T | CA2574735559 | HBB | c.*54C>A (n.*54C>A) c.*314C>A (n.*314C>A) | gnomAD v4 |
| 11 | g.5225545G>A | CA2612162228 | HBB | c.*53C>T (n.*53C>T) c.*313C>T (n.*313C>T) | gnomAD v4 |
| 11 | g.5225545G= | CA1949563891 | HBB | c.*53C= (n.*53C=) c.*313C= (n.*313C=) | |
| 11 | g.5225545G>T | CA10639375 | HBB | c.*53C>A (n.*53C>A) c.*313C>A (n.*313C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225547C= | CA1949563894 | HBB | c.*51G= (n.*51G=) c.*311G= (n.*311G=) | |
| 11 | g.5225547C>T | CA597217423 | HBB | c.*51G>A (n.*51G>A) c.*311G>A (n.*311G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225548T>C | CA5839676 | HBB | c.*50A>G (n.*50A>G) c.*310A>G (n.*310A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225548T= | CA1949563895 | HBB | c.*50A= (n.*50A=) c.*310A= (n.*310A=) | |
| 11 | g.5225549T>C | CA2612162231 | HBB | c.*49A>G (n.*49A>G) c.*309A>G (n.*309A>G) | gnomAD v4 |
| 11 | g.5225550A= | CA1949563900 | HBB | c.*48T= (n.*48T=) c.*308T= (n.*308T=) | |
| 11 | g.5225550A>G | CA5839677 | HBB | c.*48T>C (n.*48T>C) c.*308T>C (n.*308T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |