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.5225597_5225726delinsCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949564026 | HBB | c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.[c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG;Leu106=]) c.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG) | |
11 | g.5225598T>A | CA379273633 | HBB | c.444A>T (p.Ter148Tyr) c.*260A>T (n.*260A>T) | |
11 | g.5225598T>C | CA472638255 | HBB | c.444A>G (p.Ter148=) c.*260A>G (n.*260A>G) | gnomAD v4 |
11 | g.5225598T>G | CA379273634 | HBB | c.444A>C (p.Ter148Tyr) c.*260A>C (n.*260A>C) | |
11 | g.5225598T= | CA1949564036 | HBB | c.444A= (p.Ter148=) c.*260A= (n.*260A=) | |
11 | g.5225598_5225726del | CA1139661787 | HBB | c.316_444del (p.Leu106_Ter148del) c.*132_*260del (n.*132_*260del) | ClinVar dbSNP |
11 | g.5225599T>A | CA379273635 | HBB | c.443A>T (p.Ter148Leu) c.*259A>T (n.*259A>T) | |
11 | g.5225599T>C | CA472638256 | HBB | c.443A>G (p.Ter148=) c.*259A>G (n.*259A>G) | gnomAD v4 |
11 | g.5225599T>G | CA379273636 | HBB | c.443A>C (p.Ter148Ser) c.*259A>C (n.*259A>C) | |
11 | g.5225599_5225600dup | CA217112180 | HBB | c.442_443dup (p.Ter148TyrextTer12) c.*258_*259dup (n.*258_*259dup) | dbSNP |
11 | g.5225600A= | CA1949564040 | HBB | c.442T= (p.Ter148=) c.*258T= (n.*258T=) | |
11 | g.5225600A>C | CA379273637 | HBB | c.442T>G (p.Ter148Glu) c.*258T>G (n.*258T>G) | |
11 | g.5225600A>G | CA379273638 | HBB | c.442T>C (p.Ter148Gln) c.*258T>C (n.*258T>C) | |
11 | g.5225600A>T | CA379273639 | HBB | c.442T>A (p.Ter148Lys) c.*258T>A (n.*258T>A) | COSMIC |
11 | g.5225601G>A | CA472638257 | HBB | c.441C>T (p.His147=) c.*257C>T (n.*257C>T) | gnomAD v4 |
11 | g.5225601G>C | CA125513 | HBB | c.441C>G (p.His147Gln) c.*257C>G (n.*257C>G) | ClinVar dbSNP |
11 | g.5225601G= | CA1949564056 | HBB | c.441C= (p.His147=) c.*257C= (n.*257C=) | |
11 | g.5225601G>T | CA125360 | HBB | c.441C>A (p.His147Gln) c.*257C>A (n.*257C>A) | ClinVar dbSNP |
11 | g.5225602_5225603dup | CA125198 | HBB | c.440_441dup (p.Ter148ThrextTer12) c.*256_*257dup (n.*256_*257dup) | ClinVar dbSNP |
11 | g.5225602T>A | CA124809 | HBB | c.440A>T (p.His147Leu) c.*256A>T (n.*256A>T) | ClinVar dbSNP |
11 | g.5225602T>C | CA124799 | HBB | c.440A>G (p.His147Arg) c.*256A>G (n.*256A>G) | ClinVar dbSNP |
11 | g.5225602T>G | CA125245 | HBB | c.440A>C (p.His147Pro) c.*256A>C (n.*256A>C) | ClinVar dbSNP |
11 | g.5225602T= | CA1949564072 | HBB | c.440A= (p.His147=) c.*256A= (n.*256A=) | |
11 | g.5225603G>A | CA125478 | HBB | c.439C>T (p.His147Tyr) c.*255C>T (n.*255C>T) | ClinVar dbSNP |
11 | g.5225603G>C | CA124910 | HBB | c.439C>G (p.His147Asp) c.*255C>G (n.*255C>G) | ClinVar dbSNP |
11 | g.5225603G= | CA1949564089 | HBB | c.439C= (p.His147=) c.*255C= (n.*255C=) | |
11 | g.5225603G>T | CA379273640 | HBB | c.439C>A (p.His147Asn) c.*255C>A (n.*255C>A) | |
11 | g.5225604A= | CA1949564102 | HBB | c.438T= (p.Tyr146=) c.*254T= (n.*254T=) | |
11 | g.5225604A>C | CA379273641 | HBB | c.438T>G (p.Tyr146Ter) c.*254T>G (n.*254T>G) | |
11 | g.5225604A>G | CA472638258 | HBB | c.438T>C (p.Tyr146=) c.*254T>C (n.*254T>C) | |
11 | g.5225604A>T | CA125026 | HBB | c.438T>A (p.Tyr146Ter) c.*254T>A (n.*254T>A) | ClinVar dbSNP |
11 | g.5225605T>A | CA379273642 | HBB | c.437A>T (p.Tyr146Phe) c.*253A>T (n.*253A>T) | |
11 | g.5225605T>C | CA125120 | HBB | c.437A>G (p.Tyr146Cys) c.*253A>G (n.*253A>G) | ClinVar dbSNP |
11 | g.5225605T>G | CA379273643 | HBB | c.437A>C (p.Tyr146Ser) c.*253A>C (n.*253A>C) | |
11 | g.5225605T= | CA1949564107 | HBB | c.437A= (p.Tyr146=) c.*253A= (n.*253A=) | |
11 | g.5225606A= | CA1949564121 | HBB | c.436T= (p.Tyr146=) c.*252T= (n.*252T=) |