| 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.5225492_5225505delinsGGCAGAATCCAGAT | CA1949563731 | HBB | c.*93_*106delinsATCTGGATTCTGCC (n.*93_*106delinsATCTGGATTCTGCC) c.*353_*366delinsATCTGGATTCTGCC (n.*353_*366delinsATCTGGATTCTGCC) | |
| 11 | g.5225495_5225507del | CA217112095 | HBB | c.*93_*105del (n.*93_*105del) c.*353_*365del (n.*353_*365del) | ClinVar dbSNP |
| 11 | g.5225498_5225504del | CA2612162151 | HBB | c.*98_*104del (n.*98_*104del) c.*358_*364del (n.*358_*364del) | gnomAD v4 |
| 11 | g.5225503G>C | CA2612162161 | HBB | c.*95C>G (n.*95C>G) c.*355C>G (n.*355C>G) | gnomAD v4 |
| 11 | g.5225503G>T | CA2612162163 | HBB | c.*95C>A (n.*95C>A) c.*355C>A (n.*355C>A) | gnomAD v4 |
| 11 | g.5225504A= | CA1949563782 | HBB | c.*94T= (n.*94T=) c.*354T= (n.*354T=) | |
| 11 | g.5225504A>G | CA1949563783 | HBB | c.*94T>C (n.*94T>C) c.*354T>C (n.*354T>C) | dbSNP |
| 11 | g.5225505T>A | CA217112101 | HBB | c.*93A>T (n.*93A>T) c.*353A>T (n.*353A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225505T>C | CA2574735551 | HBB | c.*93A>G (n.*93A>G) c.*353A>G (n.*353A>G) | gnomAD v4 |
| 11 | g.5225505T= | CA1949563785 | HBB | c.*93A= (n.*93A=) c.*353A= (n.*353A=) | |
| 11 | g.5225506G>A | CA2574735552 | HBB | c.*92C>T (n.*92C>T) c.*352C>T (n.*352C>T) | |
| 11 | g.5225506G= | CA1949563788 | HBB | c.*92C= (n.*92C=) c.*352C= (n.*352C=) | |
| 11 | g.5225506G>T | CA1949563789 | HBB | c.*92C>A (n.*92C>A) c.*352C>A (n.*352C>A) | dbSNP gnomAD v4 |
| 11 | g.5225507C>A | CA2612162170 | HBB | c.*91G>T (n.*91G>T) c.*351G>T (n.*351G>T) | gnomAD v4 |
| 11 | g.5225507C= | CA1949563792 | HBB | c.*91G= (n.*91G=) c.*351G= (n.*351G=) | |
| 11 | g.5225507C>T | CA342874 | HBB | c.*91G>A (n.*91G>A) c.*351G>A (n.*351G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225508T>C | CA934687297 | HBB | c.*90A>G (n.*90A>G) c.*350A>G (n.*350A>G) | dbSNP gnomAD v4 |
| 11 | g.5225508T= | CA1949563794 | HBB | c.*90A= (n.*90A=) c.*350A= (n.*350A=) | |
| 11 | g.5225509C= | CA1949563796 | HBB | c.*89G= (n.*89G=) c.*349G= (n.*349G=) | |
| 11 | g.5225509C>G | CA677551555 | HBB | c.*89G>C (n.*89G>C) c.*349G>C (n.*349G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225509C>T | CA2574735553 | HBB | c.*89G>A (n.*89G>A) c.*349G>A (n.*349G>A) | |
| 11 | g.5225511A>T | CA2574735554 | HBB | c.*87T>A (n.*87T>A) c.*347T>A (n.*347T>A) | |
| 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) |