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.5225814_5225826dup | CA916083174 | HBB | c.316-98_316-86dup (n.316-98_316-86dup) n.248-98_248-86dup c.*132-98_*132-86dup (n.*132-98_*132-86dup) | ClinVar dbSNP |
11 | g.5225823A= | CA1949565702 | HBB | c.316-97T= (n.316-97T=) n.248-97T= c.*132-97T= (n.*132-97T=) | |
11 | g.5225823A>G | CA1949565704 | HBB | c.316-97T>C (n.316-97T>C) n.248-97T>C c.*132-97T>C (n.*132-97T>C) | dbSNP gnomAD v4 |
11 | g.5225824G>T | CA2612161450 | HBB | c.316-98C>A (n.316-98C>A) n.248-98C>A c.*132-98C>A (n.*132-98C>A) | gnomAD v4 |
11 | g.5225824_5225825delinsGA | CA1949565707 | HBB | c.316-99_316-98delinsTC (n.316-99_316-98delinsTC) n.248-99_248-98delinsTC c.*132-99_*132-98delinsTC (n.*132-99_*132-98delinsTC) | |
11 | g.5225825A= | CA1949565709 | HBB | c.316-99T= (n.316-99T=) n.248-99T= c.*132-99T= (n.*132-99T=) | |
11 | g.5225825A>C | CA597217537 | HBB | c.316-99T>G (n.316-99T>G) n.248-99T>G c.*132-99T>G (n.*132-99T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225825A>G | CA2574735588 | HBB | c.316-99T>C (n.316-99T>C) n.248-99T>C c.*132-99T>C (n.*132-99T>C) | ClinVar gnomAD v4 |
11 | g.5225826del | CA677552541 | HBB | c.316-99del (n.316-99del) n.248-99del c.*132-99del (n.*132-99del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225826A= | CA1949565711 | HBB | c.316-100T= (n.316-100T=) n.248-100T= c.*132-100T= (n.*132-100T=) | |
11 | g.5225826A>C | CA2612161464 | HBB | c.316-100T>G (n.316-100T>G) n.248-100T>G c.*132-100T>G (n.*132-100T>G) | gnomAD v4 |
11 | g.5225826A>G | CA934687393 | HBB | c.316-100T>C (n.316-100T>C) n.248-100T>C c.*132-100T>C (n.*132-100T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225826A>T | CA2499221003 | HBB | c.316-100T>A (n.316-100T>A) n.248-100T>A c.*132-100T>A (n.*132-100T>A) | ClinVar dbSNP |
11 | g.5225828G>A | CA2697548373 | HBB | c.316-102C>T (n.316-102C>T) n.248-102C>T c.*132-102C>T (n.*132-102C>T) | ClinVar |
11 | g.5225828G= | CA1949565714 | HBB | c.316-102C= (n.316-102C=) n.248-102C= c.*132-102C= (n.*132-102C=) | |
11 | g.5225828G>T | CA597217538 | HBB | c.316-102C>A (n.316-102C>A) n.248-102C>A c.*132-102C>A (n.*132-102C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.5225830T>A | CA2499221004 | HBB | c.316-104A>T (n.316-104A>T) n.248-104A>T c.*132-104A>T (n.*132-104A>T) | ClinVar dbSNP gnomAD v4 |
11 | g.5225830T>C | CA2612161471 | HBB | c.316-104A>G (n.316-104A>G) n.248-104A>G c.*132-104A>G (n.*132-104A>G) | gnomAD v4 |
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=) |