| 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.5225706_5225810del | CA2695213023 | HBB | c.316-82_338del n.248-82_270del c.*132-82_*154del | |
| 11 | g.5225707_5225719delinsACCAGCACGTTGC | CA1949565167 | HBB | c.323_335delinsGCAACGTGCTGGT (p.Gly108=) n.255_267delinsGCAACGTGCTGGT c.*139_*151delinsGCAACGTGCTGGT (n.*139_*151delinsGCAACGTGCTGGT) | |
| 11 | g.5225712_5225723del | CA217112772 | HBB | c.323_334del (p.Gly108_Leu111del) n.255_266del c.*139_*150del (n.*139_*150del) | dbSNP |
| 11 | g.5225719C>A | CA379273748 | HBB | c.323G>T (p.Gly108Val) n.255G>T c.*139G>T (n.*139G>T) | ClinVar dbSNP |
| 11 | g.5225719C= | CA1949565271 | HBB | c.323G= (p.Gly108=) n.255G= c.*139G= (n.*139G=) | |
| 11 | g.5225719C>G | CA379273749 | HBB | c.323G>C (p.Gly108Ala) n.255G>C c.*139G>C (n.*139G>C) | |
| 11 | g.5225719C>T | CA217112823 | HBB | c.323G>A (p.Gly108Asp) n.255G>A c.*139G>A (n.*139G>A) | dbSNP |
| 11 | g.5225721dup | CA210558 | HBB | c.323dup (p.Asn109GlnfsTer?) n.255dup c.*139dup (n.*139dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225721del | CA2574735565 | HBB | c.323del (p.Gly108AlafsTer?) n.255del c.*139del (n.*139del) | |
| 11 | g.5225720C>A | CA379273750 | HBB | c.322G>T (p.Gly108Cys) n.254G>T c.*138G>T (n.*138G>T) | |
| 11 | g.5225720C= | CA1949565278 | HBB | c.322G= (p.Gly108=) n.254G= c.*138G= (n.*138G=) | |
| 11 | g.5225720C>G | CA124776 | HBB | c.322G>C (p.Gly108Arg) n.254G>C c.*138G>C (n.*138G>C) | ClinVar dbSNP |
| 11 | g.5225720C>T | CA379273751 | HBB | c.322G>A (p.Gly108Ser) n.254G>A c.*138G>A (n.*138G>A) | |
| 11 | g.5225721C>A | CA472638735 | HBB | c.321G>T (p.Leu107=) n.253G>T c.*137G>T (n.*137G>T) | |
| 11 | g.5225721C= | CA1949565286 | HBB | c.321G= (p.Leu107=) n.253G= c.*137G= (n.*137G=) | |
| 11 | g.5225721C>G | CA472638737 | HBB | c.321G>C (p.Leu107=) n.253G>C c.*137G>C (n.*137G>C) | gnomAD v4 |
| 11 | g.5225721C>T | CA472638739 | HBB | c.321G>A (p.Leu107=) n.253G>A c.*137G>A (n.*137G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225722A= | CA1949565290 | HBB | c.320T= (p.Leu107=) n.252T= c.*136T= (n.*136T=) | |
| 11 | g.5225722A>C | CA125345 | HBB | c.320T>G (p.Leu107Arg) n.252T>G c.*136T>G (n.*136T>G) | ClinVar dbSNP |
| 11 | g.5225722A>G | CA125174 | HBB | c.320T>C (p.Leu107Pro) n.252T>C c.*136T>C (n.*136T>C) | ClinVar dbSNP |
| 11 | g.5225722A>T | CA125215 | HBB | c.320T>A (p.Leu107Gln) n.252T>A c.*136T>A (n.*136T>A) | ClinVar dbSNP |
| 11 | g.5225723G>A | CA472638743 | HBB | c.319C>T (p.Leu107=) n.251C>T c.*135C>T (n.*135C>T) | |
| 11 | g.5225723G>C | CA217112838 | HBB | c.319C>G (p.Leu107Val) n.251C>G c.*135C>G (n.*135C>G) | ClinVar dbSNP |
| 11 | g.5225723G= | CA1949565304 | HBB | c.319C= (p.Leu107=) n.251C= c.*135C= (n.*135C=) | |
| 11 | g.5225723G>T | CA379273752 | HBB | c.319C>A (p.Leu107Met) n.251C>A c.*135C>A (n.*135C>A) | |
| 11 | g.5225724G>A | CA472638744 | HBB | c.318C>T (p.Leu106=) n.250C>T c.*134C>T (n.*134C>T) | COSMIC |
| 11 | g.5225724G>C | CA472638746 | HBB | c.318C>G (p.Leu106=) n.250C>G c.*134C>G (n.*134C>G) | dbSNP COSMIC |
| 11 | g.5225724G= | CA1949565314 | HBB | c.318C= (p.Leu106=) n.250C= c.*134C= (n.*134C=) | |
| 11 | g.5225724G>T | CA472638748 | HBB | c.318C>A (p.Leu106=) n.250C>A c.*134C>A (n.*134C>A) | |
| 11 | g.5225725A= | CA1949565318 | HBB | c.317T= (p.Leu106=) n.249T= c.*133T= (n.*133T=) | |
| 11 | g.5225725A>C | CA379273753 | HBB | c.317T>G (p.Leu106Arg) n.249T>G c.*133T>G (n.*133T>G) | |
| 11 | g.5225725A>G | CA217112842 | HBB | c.317T>C (p.Leu106Pro) n.249T>C c.*133T>C (n.*133T>C) | dbSNP |
| 11 | g.5225725A>T | CA379273754 | HBB | c.317T>A (p.Leu106His) n.249T>A c.*133T>A (n.*133T>A) | |
| 11 | g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGC | CA5839702 | HBB | c.317_318insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT n.249_250insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT c.*133_*134insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT | dbSNP ExAC |