| 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.5225703_5225714del | CA2695213021 | HBB | c.335_346del (p.Val112_Leu115del) n.267_278del c.*151_*162del (n.*151_*162del) | |
| 11 | g.5225704_5225716delinsCAGACCAGCACGT | CA1949565114 | HBB | c.326_338delinsACGTGCTGGTCTG (p.Asn109=) n.258_270delinsACGTGCTGGTCTG c.*142_*154delinsACGTGCTGGTCTG (n.*142_*154delinsACGTGCTGGTCTG) | |
| 11 | g.5225706_5225810del | CA2695213023 | HBB | c.316-82_338del n.248-82_270del c.*132-82_*154del | |
| 11 | g.5225705_5225716del | CA217112758 | HBB | c.326_337del (p.Asn109_Cys113delinsSer) n.258_269del c.*142_*153del (n.*142_*153del) | dbSNP |
| 11 | g.5225707A= | CA1949565164 | HBB | c.335T= (p.Val112=) n.267T= c.*151T= (n.*151T=) | |
| 11 | g.5225707A>C | CA379273736 | HBB | c.335T>G (p.Val112Gly) n.267T>G c.*151T>G (n.*151T>G) | |
| 11 | g.5225707A>G | CA125176 | HBB | c.335T>C (p.Val112Ala) n.267T>C c.*151T>C (n.*151T>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225707A>T | CA379273737 | HBB | c.335T>A (p.Val112Asp) n.267T>A c.*151T>A (n.*151T>A) | |
| 11 | g.5225707_5225719delinsACCAGCACGTTGC | CA1949565167 | HBB | c.323_335delinsGCAACGTGCTGGT (p.Gly108=) n.255_267delinsGCAACGTGCTGGT c.*139_*151delinsGCAACGTGCTGGT (n.*139_*151delinsGCAACGTGCTGGT) | |
| 11 | g.5225708C>A | CA125098 | HBB | c.334G>T (p.Val112Phe) n.266G>T c.*150G>T (n.*150G>T) | ClinVar dbSNP |
| 11 | g.5225708C= | CA1949565171 | HBB | c.334G= (p.Val112=) n.266G= c.*150G= (n.*150G=) | |
| 11 | g.5225708C>G | CA037014 | HBB | c.334G>C (p.Val112Leu) n.266G>C c.*150G>C (n.*150G>C) | ClinVar dbSNP |
| 11 | g.5225708C>T | CA379273738 | HBB | c.334G>A (p.Val112Ile) n.266G>A c.*150G>A (n.*150G>A) | gnomAD v4 |
| 11 | g.5225709del | CA2695213024 | HBB | c.334del (p.Val112SerfsTer?) n.266del c.*150del (n.*150del) | |
| 11 | g.5225712_5225723del | CA217112772 | HBB | c.323_334del (p.Gly108_Leu111del) n.255_266del c.*139_*150del (n.*139_*150del) | dbSNP |
| 11 | g.5225709C>A | CA472638702 | HBB | c.333G>T (p.Leu111=) n.265G>T c.*149G>T (n.*149G>T) | gnomAD v4 |
| 11 | g.5225709C= | CA1949565182 | HBB | c.333G= (p.Leu111=) n.265G= c.*149G= (n.*149G=) | |
| 11 | g.5225709C>G | CA472638704 | HBB | c.333G>C (p.Leu111=) n.265G>C c.*149G>C (n.*149G>C) | |
| 11 | g.5225709C>T | CA472638705 | HBB | c.333G>A (p.Leu111=) n.265G>A c.*149G>A (n.*149G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225710A= | CA1949565191 | HBB | c.332T= (p.Leu111=) n.264T= c.*148T= (n.*148T=) | |
| 11 | g.5225710A>C | CA379273739 | HBB | c.332T>G (p.Leu111Arg) n.264T>G c.*148T>G (n.*148T>G) | |
| 11 | g.5225710A>G | CA125166 | HBB | c.332T>C (p.Leu111Pro) n.264T>C c.*148T>C (n.*148T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225710A>T | CA379273740 | HBB | c.332T>A (p.Leu111Gln) n.264T>A c.*148T>A (n.*148T>A) | |
| 11 | g.5225711G>A | CA472638709 | HBB | c.331C>T (p.Leu111=) n.263C>T c.*147C>T (n.*147C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225711G>C | CA379273741 | HBB | c.331C>G (p.Leu111Val) n.263C>G c.*147C>G (n.*147C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225711G= | CA1949565201 | HBB | c.331C= (p.Leu111=) n.263C= c.*147C= (n.*147C=) | |
| 11 | g.5225711G>T | CA379273742 | HBB | c.331C>A (p.Leu111Met) n.263C>A c.*147C>A (n.*147C>A) | |
| 11 | g.5225712del | CA2695213025 | HBB | c.330del (p.Leu111TrpfsTer?) n.262del c.*146del (n.*146del) | |
| 11 | g.5225712C>A | CA472638712 | HBB | c.330G>T (p.Val110=) n.262G>T c.*146G>T (n.*146G>T) | |
| 11 | g.5225712C>G | CA472638714 | HBB | c.330G>C (p.Val110=) n.262G>C c.*146G>C (n.*146G>C) | |
| 11 | g.5225712C>T | CA472638716 | HBB | c.330G>A (p.Val110=) n.262G>A c.*146G>A (n.*146G>A) | ClinVar dbSNP |
| 11 | g.5225713A>C | CA379273743 | HBB | c.329T>G (p.Val110Gly) n.261T>G c.*145T>G (n.*145T>G) | |
| 11 | g.5225713A>G | CA379273744 | HBB | c.329T>C (p.Val110Ala) n.261T>C c.*145T>C (n.*145T>C) | |
| 11 | g.5225713A>T | CA379273745 | HBB | c.329T>A (p.Val110Glu) n.261T>A c.*145T>A (n.*145T>A) |