| 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.5225693_5225704dup | CA217112723 | HBB | c.338_349dup (p.Ala116_His117insArgValLeuAla) n.270_281dup c.*154_*165dup (n.*154_*165dup) | dbSNP |
| 11 | g.5225703_5225714del | CA2695213021 | HBB | c.335_346del (p.Val112_Leu115del) n.267_278del c.*151_*162del (n.*151_*162del) | |
| 11 | g.5225697_5225699delinsCAG | CA1949565049 | HBB | c.343_345delinsCTG (p.Leu115=) n.275_277delinsCTG c.*159_*161delinsCTG (n.*159_*161delinsCTG) | |
| 11 | g.5225700_5225706dup | CA217112734 | HBB | c.339_345dup (p.Ala116CysfsTer27) n.271_277dup c.*155_*161dup (n.*155_*161dup) | ClinVar dbSNP |
| 11 | g.5225698A= | CA1949565060 | HBB | c.344T= (p.Leu115=) n.276T= c.*160T= (n.*160T=) | |
| 11 | g.5225698A>C | CA379273728 | HBB | c.344T>G (p.Leu115Arg) n.276T>G c.*160T>G (n.*160T>G) | |
| 11 | g.5225698A>G | CA125376 | HBB | c.344T>C (p.Leu115Pro) n.276T>C c.*160T>C (n.*160T>C) | ClinVar dbSNP |
| 11 | g.5225698A>T | CA379273729 | HBB | c.344T>A (p.Leu115Gln) n.276T>A c.*160T>A (n.*160T>A) | |
| 11 | g.5225698_5225699delinsC | CA125291 | HBB | c.343_344delinsG (p.Leu115GlyfsTer?) n.275_276delinsG c.*159_*160delinsG (n.*159_*160delinsG) | ClinVar dbSNP |
| 11 | g.5225699G>A | CA472638516 | HBB | c.343C>T (p.Leu115=) n.275C>T c.*159C>T (n.*159C>T) | COSMIC |
| 11 | g.5225699G>C | CA379273730 | HBB | c.343C>G (p.Leu115Val) n.275C>G c.*159C>G (n.*159C>G) | |
| 11 | g.5225699G= | CA1949565072 | HBB | c.343C= (p.Leu115=) n.275C= c.*159C= (n.*159C=) | |
| 11 | g.5225699G>T | CA125343 | HBB | c.343C>A (p.Leu115Met) n.275C>A c.*159C>A (n.*159C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225700C>A | CA472638519 | HBB | c.342G>T (p.Val114=) n.274G>T c.*158G>T (n.*158G>T) | |
| 11 | g.5225700C= | CA1949565076 | HBB | c.342G= (p.Val114=) n.274G= c.*158G= (n.*158G=) | |
| 11 | g.5225700C>G | CA472638520 | HBB | c.342G>C (p.Val114=) n.274G>C c.*158G>C (n.*158G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225700C>T | CA472638521 | HBB | c.342G>A (p.Val114=) n.274G>A c.*158G>A (n.*158G>A) | COSMIC |
| 11 | g.5225700dup | CA2697548369 | HBB | c.342dup (p.Leu115AlafsTer26) n.274dup c.*158dup (n.*158dup) | ClinVar |
| 11 | g.5225701A= | CA1949565080 | HBB | c.341T= (p.Val114=) n.273T= c.*157T= (n.*157T=) | |
| 11 | g.5225701A>C | CA379273731 | HBB | c.341T>G (p.Val114Gly) n.273T>G c.*157T>G (n.*157T>G) | |
| 11 | g.5225701A>G | CA379273732 | HBB | c.341T>C (p.Val114Ala) n.273T>C c.*157T>C (n.*157T>C) | |
| 11 | g.5225701A>T | CA125058 | HBB | c.341T>A (p.Val114Glu) n.273T>A c.*157T>A (n.*157T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225701_5225702delinsAC | CA1949565081 | HBB | c.340_341delinsGT (p.Val114=) n.272_273delinsGT c.*156_*157delinsGT (n.*156_*157delinsGT) | |
| 11 | g.5225702del | CA217112743 | HBB | c.340del (p.Val114CysfsTer?) n.272del c.*156del (n.*156del) | ClinVar dbSNP |
| 11 | g.5225702C>A | CA217112744 | HBB | c.340G>T (p.Val114Leu) n.272G>T c.*156G>T (n.*156G>T) | dbSNP |
| 11 | g.5225702C= | CA1949565089 | HBB | c.340G= (p.Val114=) n.272G= c.*156G= (n.*156G=) | |
| 11 | g.5225702C>G | CA217112745 | HBB | c.340G>C (p.Val114Leu) n.272G>C c.*156G>C (n.*156G>C) | dbSNP |
| 11 | g.5225702C>T | CA5839699 | HBB | c.340G>A (p.Val114Met) n.272G>A c.*156G>A (n.*156G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225703A= | CA1949565102 | HBB | c.339T= (p.Cys113=) n.271T= c.*155T= (n.*155T=) | |
| 11 | g.5225703A>C | CA217112748 | HBB | c.339T>G (p.Cys113Trp) n.271T>G c.*155T>G (n.*155T>G) | dbSNP |
| 11 | g.5225703A>G | CA472638529 | HBB | c.339T>C (p.Cys113=) n.271T>C c.*155T>C (n.*155T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225703A>T | CA217112750 | HBB | c.339T>A (p.Cys113Ter) n.271T>A c.*155T>A (n.*155T>A) | ClinVar dbSNP |
| 11 | g.5225704C>A | CA125505 | HBB | c.338G>T (p.Cys113Phe) n.270G>T c.*154G>T (n.*154G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225704C= | CA1949565118 | HBB | c.338G= (p.Cys113=) n.270G= c.*154G= (n.*154G=) |