| 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.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGC | CA5839702 | HBB | c.317_318insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT n.249_250insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT c.*133_*134insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT | dbSNP ExAC |
| 11 | g.5225725_5225728dup | CA2695213026 | HBB | c.316-2_317dup n.248-2_249dup c.*132-2_*133dup | |
| 11 | g.5225726G>A | CA125336 | HBB | c.316C>T (p.Leu106Phe) n.248C>T c.*132C>T (n.*132C>T) | ClinVar dbSNP |
| 11 | g.5225726G>C | CA379273755 | HBB | c.316C>G (p.Leu106Val) n.248C>G c.*132C>G (n.*132C>G) | |
| 11 | g.5225726G= | CA1949565327 | HBB | c.316C= (p.Leu106=) n.248C= c.*132C= (n.*132C=) | |
| 11 | g.5225726G>T | CA379273756 | HBB | c.316C>A (p.Leu106Ile) n.248C>A c.*132C>A (n.*132C>A) | |
| 11 | g.5225726_5225727delinsGC | CA1949565330 | HBB | c.316-1_316delinsGC n.248-1_248delinsGC c.*132-1_*132delinsGC | |
| 11 | g.5225727del | CA5839704 | HBB | c.316-1del (n.316-1del) n.248-1del c.*132-1del (n.*132-1del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225727C>A | CA217112852 | HBB | c.316-1G>T (n.316-1G>T) n.248-1G>T c.*132-1G>T (n.*132-1G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225727C= | CA1949565346 | HBB | c.316-1G= (n.316-1G=) n.248-1G= c.*132-1G= (n.*132-1G=) | |
| 11 | g.5225727C>G | CA217112854 | HBB | c.316-1G>C (n.316-1G>C) n.248-1G>C c.*132-1G>C (n.*132-1G>C) | ClinVar dbSNP |
| 11 | g.5225727C>T | CA217112873 | HBB | c.316-1G>A (n.316-1G>A) n.248-1G>A c.*132-1G>A (n.*132-1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225727dup | CA5839703 | HBB | c.316-1dup (n.316-1dup) n.248-1dup c.*132-1dup (n.*132-1dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAG | CA2612161236 | HBB | c.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG (n.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG) n.248-2_248-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG c.*132-2_*132-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG (n.*132-2_*132-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG) | dbSNP gnomAD v4 |
| 11 | g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAG | CA5839705 | HBB | c.316-2_316-1insCTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG (n.316-2_316-1insCTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG) n.248-2_248-1insCTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG c.*132-2_*132-1insCTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG (n.*132-2_*132-1insCTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG) | dbSNP ExAC gnomAD v2 |
| 11 | g.5225728T>A | CA379273757 | HBB | c.316-2A>T (n.316-2A>T) n.248-2A>T c.*132-2A>T (n.*132-2A>T) | |
| 11 | g.5225728T>C | CA341711 | HBB | c.316-2A>G (n.316-2A>G) n.248-2A>G c.*132-2A>G (n.*132-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225728T>G | CA341710 | HBB | c.316-2A>C (n.316-2A>C) n.248-2A>C c.*132-2A>C (n.*132-2A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225728T= | CA1949565358 | HBB | c.316-2A= (n.316-2A=) n.248-2A= c.*132-2A= (n.*132-2A=) | |
| 11 | g.5225729G>A | CA5839707 | HBB | c.316-3C>T (n.316-3C>T) n.248-3C>T c.*132-3C>T (n.*132-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225729G>C | CA217112885 | HBB | c.316-3C>G (n.316-3C>G) n.248-3C>G c.*132-3C>G (n.*132-3C>G) | ClinVar dbSNP |
| 11 | g.5225729G= | CA1949565380 | HBB | c.316-3C= (n.316-3C=) n.248-3C= c.*132-3C= (n.*132-3C=) | |
| 11 | g.5225729G>T | CA125314 | HBB | c.316-3C>A (n.316-3C>A) n.248-3C>A c.*132-3C>A (n.*132-3C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225729_5225730insAAG | CA5839706 | HBB | c.316-3_316-2insTTC (n.316-3_316-2insTTC) n.248-3_248-2insTTC c.*132-3_*132-2insTTC (n.*132-3_*132-2insTTC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225730T= | CA1949565387 | HBB | c.316-4A= (n.316-4A=) n.248-4A= c.*132-4A= (n.*132-4A=) | |
| 11 | g.5225730_5225731insTCTCA | CA5839708 | HBB | c.316-5_316-4insTGAGA (n.316-5_316-4insTGAGA) n.248-5_248-4insTGAGA c.*132-5_*132-4insTGAGA (n.*132-5_*132-4insTGAGA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225732G= | CA1949565390 | HBB | c.316-6C= (n.316-6C=) n.248-6C= c.*132-6C= (n.*132-6C=) | |
| 11 | g.5225732_5225733insATCCAC | CA5839709 | HBB | c.316-7_316-6insGTGGAT (n.316-7_316-6insGTGGAT) n.248-7_248-6insGTGGAT c.*132-7_*132-6insGTGGAT (n.*132-7_*132-6insGTGGAT) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225733G>A | CA5839711 | HBB | c.316-7C>T (n.316-7C>T) n.248-7C>T c.*132-7C>T (n.*132-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225733G>C | CA16609383 | HBB | c.316-7C>G (n.316-7C>G) n.248-7C>G c.*132-7C>G (n.*132-7C>G) | ClinVar dbSNP |
| 11 | g.5225733G= | CA1949565400 | HBB | c.316-7C= (n.316-7C=) n.248-7C= c.*132-7C= (n.*132-7C=) | |
| 11 | g.5225733G>T | CA217112896 | HBB | c.316-7C>A (n.316-7C>A) n.248-7C>A c.*132-7C>A (n.*132-7C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.[5225733G>T;5225738A>G] | CA1139767775 | HBB | c.[316-12T>C;316-7C>A] (n.[316-12T>C;316-7C>A]) n.[248-12T>C;248-7C>A] c.[*132-12T>C;*132-7C>A] (n.[*132-12T>C;*132-7C>A]) | ClinVar |