| 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.5225828_5225839delinsGGTAGCTGGATT | CA1949565716 | HBB | c.316-113_316-102delinsAATCCAGCTACC (n.316-113_316-102delinsAATCCAGCTACC) n.248-113_248-102delinsAATCCAGCTACC c.*132-113_*132-102delinsAATCCAGCTACC (n.*132-113_*132-102delinsAATCCAGCTACC) | |
| 11 | g.5225836_5225846del | CA677552557 | HBB | c.316-113_316-103del (n.316-113_316-103del) n.248-113_248-103del c.*132-113_*132-103del (n.*132-113_*132-103del) | ClinVar dbSNP |
| 11 | g.5225832G>A | CA1949565727 | HBB | c.316-106C>T (n.316-106C>T) n.248-106C>T c.*132-106C>T (n.*132-106C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225832G>C | CA125316 | HBB | c.316-106C>G (n.316-106C>G) n.248-106C>G c.*132-106C>G (n.*132-106C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225832G= | CA1949565726 | HBB | c.316-106C= (n.316-106C=) n.248-106C= c.*132-106C= (n.*132-106C=) | |
| 11 | g.5225832G>T | CA2580083913 | HBB | c.316-106C>A (n.316-106C>A) n.248-106C>A c.*132-106C>A (n.*132-106C>A) | ClinVar gnomAD v4 |
| 11 | g.5225833C>A | CA2612161491 | HBB | c.316-107G>T (n.316-107G>T) n.248-107G>T c.*132-107G>T (n.*132-107G>T) | gnomAD v4 |
| 11 | g.5225833C= | CA1949565731 | HBB | c.316-107G= (n.316-107G=) n.248-107G= c.*132-107G= (n.*132-107G=) | |
| 11 | g.5225833C>G | CA217112959 | HBB | c.316-107G>C (n.316-107G>C) n.248-107G>C c.*132-107G>C (n.*132-107G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225834T>A | CA2612161492 | HBB | c.316-108A>T (n.316-108A>T) n.248-108A>T c.*132-108A>T (n.*132-108A>T) | gnomAD v4 |
| 11 | g.5225834T>C | CA2612161493 | HBB | c.316-108A>G (n.316-108A>G) n.248-108A>G c.*132-108A>G (n.*132-108A>G) | gnomAD v4 |
| 11 | g.5225835G>A | CA658683673 | HBB | c.316-109C>T (n.316-109C>T) n.248-109C>T c.*132-109C>T (n.*132-109C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225835G= | CA1949565737 | HBB | c.316-109C= (n.316-109C=) n.248-109C= c.*132-109C= (n.*132-109C=) | |
| 11 | g.5225835G>T | CA2612161495 | HBB | c.316-109C>A (n.316-109C>A) n.248-109C>A c.*132-109C>A (n.*132-109C>A) | gnomAD v4 |
| 11 | g.5225836G>A | CA915940694 | HBB | c.316-110C>T (n.316-110C>T) n.248-110C>T c.*132-110C>T (n.*132-110C>T) | |
| 11 | g.5225836G>C | CA2612161496 | HBB | c.316-110C>G (n.316-110C>G) n.248-110C>G c.*132-110C>G (n.*132-110C>G) | gnomAD v4 |
| 11 | g.5225836G>T | CA2612161497 | HBB | c.316-110C>A (n.316-110C>A) n.248-110C>A c.*132-110C>A (n.*132-110C>A) | gnomAD v4 |
| 11 | g.5225837A>G | CA2573147105 | HBB | c.316-111T>C (n.316-111T>C) n.248-111T>C c.*132-111T>C (n.*132-111T>C) | ClinVar dbSNP |
| 11 | g.5225838T>C | CA1949565740 | HBB | c.316-112A>G (n.316-112A>G) n.248-112A>G c.*132-112A>G (n.*132-112A>G) | ClinVar dbSNP |
| 11 | g.5225838T= | CA1949565738 | HBB | c.316-112A= (n.316-112A=) n.248-112A= c.*132-112A= (n.*132-112A=) | |
| 11 | g.5225840G>A | CA658683674 | HBB | c.316-114C>T (n.316-114C>T) n.248-114C>T c.*132-114C>T (n.*132-114C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225840G>C | CA2612161500 | HBB | c.316-114C>G (n.316-114C>G) n.248-114C>G c.*132-114C>G (n.*132-114C>G) | gnomAD v4 |
| 11 | g.5225840G= | CA1949565748 | HBB | c.316-114C= (n.316-114C=) n.248-114C= c.*132-114C= (n.*132-114C=) | |
| 11 | g.5225840G>T | CA217112964 | HBB | c.316-114C>A (n.316-114C>A) n.248-114C>A c.*132-114C>A (n.*132-114C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225841T>A | CA2612161504 | HBB | c.316-115A>T (n.316-115A>T) n.248-115A>T c.*132-115A>T (n.*132-115A>T) | gnomAD v4 |
| 11 | g.5225841T>G | CA677552578 | HBB | c.316-115A>C (n.316-115A>C) n.248-115A>C c.*132-115A>C (n.*132-115A>C) | dbSNP |
| 11 | g.5225841T= | CA1949565751 | HBB | c.316-115A= (n.316-115A=) n.248-115A= c.*132-115A= (n.*132-115A=) | |
| 11 | g.5225841dup | CA2499221005 | HBB | c.316-115dup (n.316-115dup) n.248-115dup c.*132-115dup (n.*132-115dup) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225842A= | CA1949565752 | HBB | c.316-116T= (n.316-116T=) n.248-116T= c.*132-116T= (n.*132-116T=) | |
| 11 | g.5225842A>C | CA2695213028 | HBB | c.316-116T>G (n.316-116T>G) n.248-116T>G c.*132-116T>G (n.*132-116T>G) | |
| 11 | g.5225842A>G | CA1949565753 | HBB | c.316-116T>C (n.316-116T>C) n.248-116T>C c.*132-116T>C (n.*132-116T>C) | dbSNP |
| 11 | g.5225843G>A | CA2739276132 | HBB | c.316-117C>T (n.316-117C>T) n.248-117C>T c.*132-117C>T (n.*132-117C>T) | ClinVar |
| 11 | g.5225843G>T | CA2612161505 | HBB | c.316-117C>A (n.316-117C>A) n.248-117C>A c.*132-117C>A (n.*132-117C>A) | gnomAD v4 |
| 11 | g.5225846_5225848del | CA2580615623 | HBB | c.316-119_316-117del (n.316-119_316-117del) n.248-119_248-117del c.*132-119_*132-117del (n.*132-119_*132-117del) | ClinVar dbSNP |
| 11 | g.5225844C>A | CA2612161506 | HBB | c.316-118G>T (n.316-118G>T) n.248-118G>T c.*132-118G>T (n.*132-118G>T) | ClinVar gnomAD v4 |
| 11 | g.5225845T>C | CA2580083914 | HBB | c.316-119A>G (n.316-119A>G) n.248-119A>G c.*132-119A>G (n.*132-119A>G) | ClinVar |
| 11 | g.5225845T>G | CA2612161507 | HBB | c.316-119A>C (n.316-119A>C) n.248-119A>C c.*132-119A>C (n.*132-119A>C) | ClinVar gnomAD v4 |
| 11 | g.5225846G>C | CA915947986 | HBB | c.316-120C>G (n.316-120C>G) n.248-120C>G c.*132-120C>G (n.*132-120C>G) | ClinVar dbSNP gnomAD v4 |