| 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.5225623_5225627delinsTTAGC | CA1949564335 | HBB | c.415_419delinsGCTAA (p.Ala139=) c.*231_*235delinsGCTAA (n.*231_*235delinsGCTAA) | |
| 11 | g.5225623_5225629delinsTTAGCCA | CA1949564337 | HBB | c.413_419delinsTGGCTAA (p.Val138=) c.*229_*235delinsTGGCTAA (n.*229_*235delinsTGGCTAA) | |
| 11 | g.5225624_5225627del | CA918809822 | HBB | c.415_418del (p.Ala139MetfsTer19) c.*231_*234del (n.*231_*234del) | dbSNP |
| 11 | g.5225624_5225627delinsA | CA2695212998 | HBB | c.415_418delinsT (p.Ala139_Asn140delinsTyr) c.*231_*234delinsT (n.*231_*234delinsT) | |
| 11 | g.5225624_5225627delinsGCT | CA918809824 | HBB | c.415_418delinsAGC (p.Ala139SerfsTer20) c.*231_*234delinsAGC (n.*231_*234delinsAGC) | dbSNP |
| 11 | g.5225624_5225627delinsTAGC | CA1949564355 | HBB | c.415_418delinsGCTA (p.Ala139=) c.*231_*234delinsGCTA (n.*231_*234delinsGCTA) | |
| 11 | g.5225624_5225629del | CA217112329 | HBB | c.413_418del (p.Val138_Asn140delinsAsp) c.*229_*234del (n.*229_*234del) | dbSNP |
| 11 | g.5225625_5225627del | CA125458 | HBB | c.415_417del (p.Ala139del) c.*231_*233del (n.*231_*233del) | ClinVar dbSNP |
| 11 | g.5225626G>A | CA217112337 | HBB | c.416C>T (p.Ala139Val) c.*232C>T (n.*232C>T) | dbSNP gnomAD v4 |
| 11 | g.5225626G>C | CA379273659 | HBB | c.416C>G (p.Ala139Gly) c.*232C>G (n.*232C>G) | |
| 11 | g.5225626G= | CA1949564363 | HBB | c.416C= (p.Ala139=) c.*232C= (n.*232C=) | |
| 11 | g.5225626G>T | CA379273660 | HBB | c.416C>A (p.Ala139Asp) c.*232C>A (n.*232C>A) | |
| 11 | g.5225627C>A | CA379273661 | HBB | c.415G>T (p.Ala139Ser) c.*231G>T (n.*231G>T) | |
| 11 | g.5225627C= | CA1949564372 | HBB | c.415G= (p.Ala139=) c.*231G= (n.*231G=) | |
| 11 | g.5225627C>G | CA124766 | HBB | c.415G>C (p.Ala139Pro) c.*231G>C (n.*231G>C) | ClinVar dbSNP |
| 11 | g.5225627C>T | CA125521 | HBB | c.415G>A (p.Ala139Thr) c.*231G>A (n.*231G>A) | ClinVar dbSNP |
| 11 | g.5225628C>A | CA472638296 | HBB | c.414G>T (p.Val138=) c.*230G>T (n.*230G>T) | |
| 11 | g.5225628C= | CA1949564380 | HBB | c.414G= (p.Val138=) c.*230G= (n.*230G=) | |
| 11 | g.5225628C>G | CA472638299 | HBB | c.414G>C (p.Val138=) c.*230G>C (n.*230G>C) | |
| 11 | g.5225628C>T | CA5839688 | HBB | c.414G>A (p.Val138=) c.*230G>A (n.*230G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225629_5225632del | CA2695213000 | HBB | c.411_414del (p.Val138LeufsTer20) c.*227_*230del (n.*227_*230del) | |
| 11 | g.5225628_5225638delinsCACACCAGCCA | CA1949564377 | HBB | c.404_414delinsTGGCTGGTGTG (p.Val135=) c.*220_*230delinsTGGCTGGTGTG (n.*220_*230delinsTGGCTGGTGTG) | |
| 11 | g.5225629A>C | CA379273662 | HBB | c.413T>G (p.Val138Gly) c.*229T>G (n.*229T>G) | |
| 11 | g.5225629A>G | CA379273663 | HBB | c.413T>C (p.Val138Ala) c.*229T>C (n.*229T>C) | |
| 11 | g.5225629A>T | CA379273664 | HBB | c.413T>A (p.Val138Glu) c.*229T>A (n.*229T>A) | |
| 11 | g.5225629_5225630delinsCA | CA2695213001 | HBB | c.412_413delinsTG (p.Val138Trp) c.*228_*229delinsTG (n.*228_*229delinsTG) | |
| 11 | g.5225629_5225638delinsCTGC | CA217112350 | HBB | c.404_413delinsGCAG (p.Val135_Val138delinsGlyArg) c.*220_*229delinsGCAG (n.*220_*229delinsGCAG) | dbSNP |
| 11 | g.5225630C>A | CA379273666 | HBB | c.412G>T (p.Val138Leu) c.*228G>T (n.*228G>T) | |
| 11 | g.5225630C= | CA1949564386 | HBB | c.412G= (p.Val138=) c.*228G= (n.*228G=) | |
| 11 | g.5225630C>G | CA379273665 | HBB | c.412G>C (p.Val138Leu) c.*228G>C (n.*228G>C) | |
| 11 | g.5225630C>T | CA5839689 | HBB | c.412G>A (p.Val138Met) c.*228G>A (n.*228G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225631A= | CA1949564388 | HBB | c.411T= (p.Gly137=) c.*227T= (n.*227T=) | |
| 11 | g.5225631A>C | CA5839690 | HBB | c.411T>G (p.Gly137=) c.*227T>G (n.*227T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225631A>G | CA472638306 | HBB | c.411T>C (p.Gly137=) c.*227T>C (n.*227T>C) |