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.5225598_5225726del | CA1139661787 | HBB | c.316_444del (p.Leu106_Ter148del) c.*132_*260del (n.*132_*260del) | 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=) | |
11 | g.5225606A>C | CA217112207 | HBB | c.436T>G (p.Tyr146Asp) c.*252T>G (n.*252T>G) | dbSNP |
11 | g.5225606A>G | CA124752 | HBB | c.436T>C (p.Tyr146His) c.*252T>C (n.*252T>C) | ClinVar dbSNP |
11 | g.5225606A>T | CA217112211 | HBB | c.436T>A (p.Tyr146Asn) c.*252T>A (n.*252T>A) | ClinVar dbSNP |
11 | g.5225606_5225607insGA | CA124811 | HBB | c.436_437insCT (p.Tyr146SerfsTer14) c.*252_*253insCT (n.*252_*253insCT) | ClinVar dbSNP |
11 | g.5225607C>A | CA233188 | HBB | c.435G>T (p.Lys145Asn) c.*251G>T (n.*251G>T) | ClinVar dbSNP |
11 | g.5225607C= | CA1949564139 | HBB | c.435G= (p.Lys145=) c.*251G= (n.*251G=) | |
11 | g.5225607C>G | CA124724 | HBB | c.435G>C (p.Lys145Asn) c.*251G>C (n.*251G>C) | ClinVar dbSNP |
11 | g.5225607C>T | CA5839687 | HBB | c.435G>A (p.Lys145=) c.*251G>A (n.*251G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225607_5225608delinsCT | CA1949564134 | HBB | c.434_435delinsAG (p.Lys145=) c.*250_*251delinsAG (n.*250_*251delinsAG) | |
11 | g.5225608T>A | CA125476 | HBB | c.434A>T (p.Lys145Met) c.*250A>T (n.*250A>T) | ClinVar dbSNP |
11 | g.5225608T>C | CA379273644 | HBB | c.434A>G (p.Lys145Arg) c.*250A>G (n.*250A>G) | |
11 | g.5225608T>G | CA379273645 | HBB | c.434A>C (p.Lys145Thr) c.*250A>C (n.*250A>C) | |
11 | g.5225608T= | CA1949564150 | HBB | c.434A= (p.Lys145=) c.*250A= (n.*250A=) | |
11 | g.5225609del | CA125518 | HBB | c.434del (p.Lys145SerfsTer14) c.*250del (n.*250del) | ClinVar dbSNP |
11 | g.5225608_5225617delinsTTGTGGGCCA | CA1949564157 | HBB | c.425_434delinsTGGCCCACAA (p.Leu142=) c.*241_*250delinsTGGCCCACAA (n.*241_*250delinsTGGCCCACAA) | |
11 | g.5225609T>A | CA038142 | HBB | c.433A>T (p.Lys145Ter) c.*249A>T (n.*249A>T) | dbSNP |
11 | g.[5225609T>A;5225618G>C] | CA038219 | HBB | c.[424C>G;433A>T] (p.[Leu142Val;Lys145Ter]) c.[*240C>G;*249A>T] (n.[*240C>G;*249A>T]) | ClinVar |
11 | g.5225609T>C | CA125032 | HBB | c.433A>G (p.Lys145Glu) c.*249A>G (n.*249A>G) | ClinVar dbSNP |
11 | g.5225609T>G | CA379273646 | HBB | c.433A>C (p.Lys145Gln) c.*249A>C (n.*249A>C) | |
11 | g.5225609T= | CA1949564166 | HBB | c.433A= (p.Lys145=) c.*249A= (n.*249A=) | |
11 | g.5225609_5225617del | CA125332 | HBB | c.425_433del (p.Leu142_Lys145delinsGln) c.*241_*249del (n.*241_*249del) | ClinVar dbSNP |
11 | g.5225610G>A | CA342872 | HBB | c.432C>T (p.His144=) c.*248C>T (n.*248C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225610G>C | CA217112242 | HBB | c.432C>G (p.His144Gln) c.*248C>G (n.*248C>G) | dbSNP |
11 | g.5225610G= | CA1949564183 | HBB | c.432C= (p.His144=) c.*248C= (n.*248C=) | |
11 | g.5225610G>T | CA217112246 | HBB | c.432C>A (p.His144Gln) c.*248C>A (n.*248C>A) | dbSNP COSMIC |
11 | g.5225610_5225611delinsGT | CA1949564177 | HBB | c.431_432delinsAC (p.His144=) c.*247_*248delinsAC (n.*247_*248delinsAC) | |
11 | g.5225611del | CA125153 | HBB | c.431del (p.His144ProfsTer15) c.*247del (n.*247del) | ClinVar dbSNP |
11 | g.5225611T>A | CA217112264 | HBB | c.431A>T (p.His144Leu) c.*247A>T (n.*247A>T) | dbSNP |
11 | g.5225611T>C | CA124714 | HBB | c.431A>G (p.His144Arg) c.*247A>G (n.*247A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |