| 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_5225875delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563650 | HBB | c.316-149_*133delinsTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA | |
| 11 | g.5225467_5225876del | CA915947982 | HBB | c.316-149_*132del | ClinVar dbSNP |
| 11 | g.5225706_5225810del | CA2695213023 | HBB | c.316-82_338del n.248-82_270del c.*132-82_*154del | |
| 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) | 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 |
| 11 | g.5225733_5225738delinsTAGGAG | CA2695213027 | HBB | c.316-12_316-7delinsCTCCTA (n.316-12_316-7delinsCTCCTA) n.248-12_248-7delinsCTCCTA c.*132-12_*132-7delinsCTCCTA (n.*132-12_*132-7delinsCTCCTA) | |
| 11 | g.5225733_5225734insTGCAGCTTGTCAC | CA5839710 | HBB | c.316-8_316-7insGTGACAAGCTGCA (n.316-8_316-7insGTGACAAGCTGCA) n.248-8_248-7insGTGACAAGCTGCA c.*132-8_*132-7insGTGACAAGCTGCA (n.*132-8_*132-7insGTGACAAGCTGCA) | dbSNP ExAC gnomAD v4 |
| 11 | g.5225734A= | CA1949565412 | HBB | c.316-8T= (n.316-8T=) n.248-8T= c.*132-8T= (n.*132-8T=) | |
| 11 | g.5225734A>C | CA217112899 | HBB | c.316-8T>G (n.316-8T>G) n.248-8T>G c.*132-8T>G (n.*132-8T>G) | ClinVar dbSNP |
| 11 | g.5225734A>G | CA2574735567 | HBB | c.316-8T>C (n.316-8T>C) n.248-8T>C c.*132-8T>C (n.*132-8T>C) | |
| 11 | g.5225735G>A | CA2739276128 | HBB | c.316-9C>T (n.316-9C>T) n.248-9C>T c.*132-9C>T (n.*132-9C>T) | |
| 11 | g.5225735G>C | CA1949565418 | HBB | c.316-9C>G (n.316-9C>G) n.248-9C>G c.*132-9C>G (n.*132-9C>G) | ClinVar dbSNP |
| 11 | g.5225735G= | CA1949565416 | HBB | c.316-9C= (n.316-9C=) n.248-9C= c.*132-9C= (n.*132-9C=) | |
| 11 | g.5225736G>A | CA5839712 | HBB | c.316-10C>T (n.316-10C>T) n.248-10C>T c.*132-10C>T (n.*132-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225736G= | CA1949565421 | HBB | c.316-10C= (n.316-10C=) n.248-10C= c.*132-10C= (n.*132-10C=) | |
| 11 | g.5225736G>T | CA2499220997 | HBB | c.316-10C>A (n.316-10C>A) n.248-10C>A c.*132-10C>A (n.*132-10C>A) | ClinVar dbSNP |
| 11 | g.5225737A= | CA1949565424 | HBB | c.316-11T= (n.316-11T=) n.248-11T= c.*132-11T= (n.*132-11T=) | |
| 11 | g.5225737A>G | CA5839713 | HBB | c.316-11T>C (n.316-11T>C) n.248-11T>C c.*132-11T>C (n.*132-11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225738A= | CA1949565428 | HBB | c.316-12T= (n.316-12T=) n.248-12T= c.*132-12T= (n.*132-12T=) | |
| 11 | g.5225738A>G | CA5839714 | HBB | c.316-12T>C (n.316-12T>C) n.248-12T>C c.*132-12T>C (n.*132-12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225739G>A | CA2697548370 | HBB | c.316-13C>T (n.316-13C>T) n.248-13C>T c.*132-13C>T (n.*132-13C>T) | |
| 11 | g.5225740A= | CA1949565446 | HBB | c.316-14T= (n.316-14T=) n.248-14T= c.*132-14T= (n.*132-14T=) | |
| 11 | g.5225740A>C | CA342858 | HBB | c.316-14T>G (n.316-14T>G) n.248-14T>G c.*132-14T>G (n.*132-14T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225740A>G | CA2573131838 | HBB | c.316-14T>C (n.316-14T>C) n.248-14T>C c.*132-14T>C (n.*132-14T>C) | |
| 11 | g.5225741T>C | CA2499220998 | HBB | c.316-15A>G (n.316-15A>G) n.248-15A>G c.*132-15A>G (n.*132-15A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225744G>A | CA597217533 | HBB | c.316-18C>T (n.316-18C>T) n.248-18C>T c.*132-18C>T (n.*132-18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225744G= | CA1949565450 | HBB | c.316-18C= (n.316-18C=) n.248-18C= c.*132-18C= (n.*132-18C=) | |
| 11 | g.5225745A= | CA1949565454 | HBB | c.316-19T= (n.316-19T=) n.248-19T= c.*132-19T= (n.*132-19T=) | |
| 11 | g.5225745A>T | CA5839715 | HBB | c.316-19T>A (n.316-19T>A) n.248-19T>A c.*132-19T>A (n.*132-19T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225746G>A | CA2499220999 | HBB | c.316-20C>T (n.316-20C>T) n.248-20C>T c.*132-20C>T (n.*132-20C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225746G>C | CA5839716 | HBB | c.316-20C>G (n.316-20C>G) n.248-20C>G c.*132-20C>G (n.*132-20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225746G= | CA1949565466 | HBB | c.316-20C= (n.316-20C=) n.248-20C= c.*132-20C= (n.*132-20C=) | |
| 11 | g.5225747G>A | CA5839717 | HBB | c.316-21C>T (n.316-21C>T) n.248-21C>T c.*132-21C>T (n.*132-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225747G= | CA1949565470 | HBB | c.316-21C= (n.316-21C=) n.248-21C= c.*132-21C= (n.*132-21C=) | |
| 11 | g.5225748T>C | CA934687377 | HBB | c.316-22A>G (n.316-22A>G) n.248-22A>G c.*132-22A>G (n.*132-22A>G) | dbSNP gnomAD v3 gnomAD v4 |