| 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.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 |
| 11 | g.5225576A>G | CA2612162246 | HBB | c.*22T>C (n.*22T>C) c.*282T>C (n.*282T>C) | gnomAD v4 |
| 11 | g.5225577T>C | CA2612162248 | HBB | c.*21A>G (n.*21A>G) c.*281A>G (n.*281A>G) | gnomAD v4 |
| 11 | g.5225578del | CA2612162247 | HBB | c.*21del (n.*21del) c.*281del (n.*281del) | gnomAD v4 |
| 11 | g.5225578T>A | CA2723119924 | HBB | c.*20A>T (n.*20A>T) c.*280A>T (n.*280A>T) | dbSNP |
| 11 | g.5225578T>G | CA1949563964 | HBB | c.*20A>C (n.*20A>C) c.*280A>C (n.*280A>C) | dbSNP |
| 11 | g.5225578T= | CA1949563962 | HBB | c.*20A= (n.*20A=) c.*280A= (n.*280A=) | |
| 11 | g.5225579G>C | CA913550879 | HBB | c.*19C>G (n.*19C>G) c.*279C>G (n.*279C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225579G= | CA1949563966 | HBB | c.*19C= (n.*19C=) c.*279C= (n.*279C=) | |
| 11 | g.5225580G= | CA1949563973 | HBB | c.*18C= (n.*18C=) c.*278C= (n.*278C=) | |
| 11 | g.5225580G>T | CA597217430 | HBB | c.*18C>A (n.*18C>A) c.*278C>A (n.*278C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225581A= | CA1949563977 | HBB | c.*17T= (n.*17T=) c.*277T= (n.*277T=) | |
| 11 | g.5225581A>G | CA597217431 | HBB | c.*17T>C (n.*17T>C) c.*277T>C (n.*277T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225582C>T | CA2580083904 | HBB | c.*16G>A (n.*16G>A) c.*276G>A (n.*276G>A) | ClinVar |
| 11 | g.5225584G>A | CA5839681 | HBB | c.*14C>T (n.*14C>T) c.*274C>T (n.*274C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225584G= | CA1949563979 | HBB | c.*14C= (n.*14C=) c.*274C= (n.*274C=) | |
| 11 | g.5225584G>T | CA597217432 | HBB | c.*14C>A (n.*14C>A) c.*274C>A (n.*274C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225585C>T | CA2612162250 | HBB | c.*13G>A (n.*13G>A) c.*273G>A (n.*273G>A) | gnomAD v4 |
| 11 | g.5225587A= | CA1949563982 | HBB | c.*11T= (n.*11T=) c.*271T= (n.*271T=) |