| 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.5225512G>T | CA2574735555 | HBB | c.*86C>A (n.*86C>A) c.*346C>A (n.*346C>A) | gnomAD v4 |
| 11 | g.5225513G= | CA1949563801 | HBB | c.*85C= (n.*85C=) c.*345C= (n.*345C=) | |
| 11 | g.5225513G>T | CA1949563802 | HBB | c.*85C>A (n.*85C>A) c.*345C>A (n.*345C>A) | dbSNP gnomAD v4 |
| 11 | g.5225514C>T | CA2612162181 | HBB | c.*84G>A (n.*84G>A) c.*344G>A (n.*344G>A) | gnomAD v4 |
| 11 | g.5225515C>A | CA2573053520 | HBB | c.*83G>T (n.*83G>T) c.*343G>T (n.*343G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225516C>A | CA934687298 | HBB | c.*82G>T (n.*82G>T) c.*342G>T (n.*342G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225516C= | CA1949563806 | HBB | c.*82G= (n.*82G=) c.*342G= (n.*342G=) | |
| 11 | g.5225516C>G | CA2612162182 | HBB | c.*82G>C (n.*82G>C) c.*342G>C (n.*342G>C) | gnomAD v4 |
| 11 | g.5225516C>T | CA597217418 | HBB | c.*82G>A (n.*82G>A) c.*342G>A (n.*342G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225517T>C | CA217112104 | HBB | c.*81A>G (n.*81A>G) c.*341A>G (n.*341A>G) | dbSNP |
| 11 | g.5225517T>G | CA2612162184 | HBB | c.*81A>C (n.*81A>C) c.*341A>C (n.*341A>C) | gnomAD v4 |
| 11 | g.5225517T= | CA1949563809 | HBB | c.*81A= (n.*81A=) c.*341A= (n.*341A=) | |
| 11 | g.5225518T>C | CA2612162187 | HBB | c.*80A>G (n.*80A>G) c.*340A>G (n.*340A>G) | gnomAD v4 |
| 11 | g.5225519C>G | CA472638254 | HBB | c.*79G>C (n.*79G>C) c.*339G>C (n.*339G>C) | |
| 11 | g.5225519C>T | CA2612162189 | HBB | c.*79G>A (n.*79G>A) c.*339G>A (n.*339G>A) | gnomAD v4 |
| 11 | g.5225520A= | CA1949563814 | HBB | c.*78T= (n.*78T=) c.*338T= (n.*338T=) | |
| 11 | g.5225520A>G | CA645509057 | HBB | c.*78T>C (n.*78T>C) c.*338T>C (n.*338T>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225520A>T | CA2697548367 | HBB | c.*78T>A (n.*78T>A) c.*338T>A (n.*338T>A) | ClinVar |
| 11 | g.5225521T>A | CA2612162193 | HBB | c.*77A>T (n.*77A>T) c.*337A>T (n.*337A>T) | gnomAD v4 |
| 11 | g.5225522A>G | CA2612162194 | HBB | c.*76T>C (n.*76T>C) c.*336T>C (n.*336T>C) | gnomAD v4 |
| 11 | g.5225523A>G | CA2612162195 | HBB | c.*75T>C (n.*75T>C) c.*335T>C (n.*335T>C) | gnomAD v4 |
| 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 |