| 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.5225524T>C | CA217112107 | HBB | c.*74A>G (n.*74A>G) c.*334A>G (n.*334A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225524T= | CA1949563818 | HBB | c.*74A= (n.*74A=) c.*334A= (n.*334A=) | |
| 11 | g.5225525A= | CA1949563822 | HBB | c.*73T= (n.*73T=) c.*333T= (n.*333T=) | |
| 11 | g.5225525A>G | CA597217419 | HBB | c.*73T>C (n.*73T>C) c.*333T>C (n.*333T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225526T>A | CA2612162197 | HBB | c.*72A>T (n.*72A>T) c.*332A>T (n.*332A>T) | gnomAD v4 |
| 11 | g.5225526T>C | CA2612162198 | HBB | c.*72A>G (n.*72A>G) c.*332A>G (n.*332A>G) | gnomAD v4 |
| 11 | g.5225527C= | CA1949563830 | HBB | c.*71G= (n.*71G=) c.*331G= (n.*331G=) | |
| 11 | g.5225527C>T | CA217112112 | HBB | c.*71G>A (n.*71G>A) c.*331G>A (n.*331G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225531del | CA2574735556 | HBB | c.*71del (n.*71del) c.*331del (n.*331del) | |
| 11 | g.5225528C= | CA1949563835 | HBB | c.*70G= (n.*70G=) c.*330G= (n.*330G=) | |
| 11 | g.5225528C>T | CA217112117 | HBB | c.*70G>A (n.*70G>A) c.*330G>A (n.*330G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225529C>T | CA2612162199 | HBB | c.*69G>A (n.*69G>A) c.*329G>A (n.*329G>A) | gnomAD v4 |
| 11 | g.5225530C>T | CA2612162200 | HBB | c.*68G>A (n.*68G>A) c.*328G>A (n.*328G>A) | gnomAD v4 |
| 11 | g.5225530_5225531insA | CA2612162202 | HBB | c.*67_*68insT (n.*67_*68insT) c.*327_*328insT (n.*327_*328insT) | gnomAD v4 |
| 11 | g.5225531C>A | CA658683670 | HBB | c.*67G>T (n.*67G>T) c.*327G>T (n.*327G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225531C= | CA1949563839 | HBB | c.*67G= (n.*67G=) c.*327G= (n.*327G=) | |
| 11 | g.5225531C>G | CA2612162203 | HBB | c.*67G>C (n.*67G>C) c.*327G>C (n.*327G>C) | gnomAD v4 |
| 11 | g.5225531C>T | CA2612162204 | HBB | c.*67G>A (n.*67G>A) c.*327G>A (n.*327G>A) | dbSNP gnomAD v4 |
| 11 | g.5225532A>G | CA2612162205 | HBB | c.*66T>C (n.*66T>C) c.*326T>C (n.*326T>C) | gnomAD v4 |
| 11 | g.5225533G>A | CA2612162206 | HBB | c.*65C>T (n.*65C>T) c.*325C>T (n.*325C>T) | gnomAD v4 |
| 11 | g.5225533G>C | CA597217421 | HBB | c.*65C>G (n.*65C>G) c.*325C>G (n.*325C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225533G= | CA1949563848 | HBB | c.*65C= (n.*65C=) c.*325C= (n.*325C=) | |
| 11 | g.5225533G>T | CA2612162207 | HBB | c.*65C>A (n.*65C>A) c.*325C>A (n.*325C>A) | gnomAD v4 |
| 11 | g.5225536dup | CA2612162208 | HBB | c.*64dup (n.*64dup) c.*324dup (n.*324dup) | gnomAD v4 |
| 11 | g.5225536T>C | CA217112121 | HBB | c.*62A>G (n.*62A>G) c.*322A>G (n.*322A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225536T>G | CA2574735557 | HBB | c.*62A>C (n.*62A>C) c.*322A>C (n.*322A>C) | |
| 11 | g.5225536T= | CA1949563857 | HBB | c.*62A= (n.*62A=) c.*322A= (n.*322A=) | |
| 11 | g.5225537A>C | CA2612162211 | HBB | c.*61T>G (n.*61T>G) c.*321T>G (n.*321T>G) | gnomAD v4 |
| 11 | g.5225537A>G | CA2612162212 | HBB | c.*61T>C (n.*61T>C) c.*321T>C (n.*321T>C) | gnomAD v4 |
| 11 | g.5225537_5225541del | CA2612162210 | HBB | c.*57_*61del (n.*57_*61del) c.*317_*321del (n.*317_*321del) | gnomAD v4 |
| 11 | g.5225538G>T | CA2612162213 | HBB | c.*60C>A (n.*60C>A) c.*320C>A (n.*320C>A) | gnomAD v4 |
| 11 | g.5225539del | CA2612162214 | HBB | c.*59del (n.*59del) c.*319del (n.*319del) | gnomAD v4 |
| 11 | g.5225539T>C | CA677551598 | HBB | c.*59A>G (n.*59A>G) c.*319A>G (n.*319A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225539T= | CA1949563866 | HBB | c.*59A= (n.*59A=) c.*319A= (n.*319A=) | |
| 11 | g.5225540A>C | CA2612162217 | HBB | c.*58T>G (n.*58T>G) c.*318T>G (n.*318T>G) | gnomAD v4 |
| 11 | g.5225540A>T | CA2612162218 | HBB | c.*58T>A (n.*58T>A) c.*318T>A (n.*318T>A) | gnomAD v4 |