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.5225407A= | CA1949563597 | |||
11 | g.5225407A>G | CA1949563598 | dbSNP gnomAD v3 gnomAD v4 | ||
11 | g.5225408C>A | CA2612162041 | gnomAD v4 | ||
11 | g.5225408C>G | CA2612162043 | gnomAD v4 | ||
11 | g.5225408C>T | CA2612162042 | gnomAD v4 | ||
11 | g.5225410G>A | CA677551433 | dbSNP gnomAD v4 | ||
11 | g.5225410G>C | CA2612162044 | gnomAD v4 | ||
11 | g.5225410G= | CA1949563599 | |||
11 | g.5225410G>T | CA2612162045 | gnomAD v4 | ||
11 | g.5225411A>T | CA2612162046 | gnomAD v4 | ||
11 | g.5225412C>A | CA2612162047 | gnomAD v4 | ||
11 | g.5225412C>G | CA2612162048 | gnomAD v4 | ||
11 | g.5225412C>T | CA2612162049 | gnomAD v4 | ||
11 | g.5225413C>A | CA2612162050 | gnomAD v4 | ||
11 | g.5225413C= | CA1949563601 | |||
11 | g.5225413C>T | CA1949563602 | dbSNP gnomAD v4 | ||
11 | g.5225414T>G | CA2612162051 | gnomAD v4 | ||
11 | g.5225415C>A | CA2612162052 | gnomAD v4 | ||
11 | g.5225415C= | CA1949563603 | |||
11 | g.5225415C>G | CA2612162054 | gnomAD v4 | ||
11 | g.5225415C>T | CA217112016 | dbSNP gnomAD v4 | ||
11 | g.5225417del | CA2612162053 | gnomAD v4 | ||
11 | g.5225416C>A | CA2580980467 | |||
11 | g.5225416C= | CA1949563605 | |||
11 | g.5225416C>G | CA2580980466 | gnomAD v4 | ||
11 | g.5225416C>T | CA217112021 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
11 | g.5225417C>A | CA2612162055 | gnomAD v4 | ||
11 | g.5225417C= | CA1949563606 | |||
11 | g.5225417C>T | CA1949563607 | dbSNP gnomAD v4 | ||
11 | g.5225419C>T | CA2612162056 | gnomAD v4 | ||
11 | g.5225420A>G | CA2612162057 | gnomAD v4 | ||
11 | g.5225420A>T | CA2612162058 | gnomAD v4 | ||
11 | g.5225421T>C | CA2612162059 | gnomAD v4 | ||
11 | g.5225421T>G | CA2612162060 | gnomAD v4 | ||
11 | g.5225422dup | CA2695212989 | |||
11 | g.5225423C>A | CA217112024 | dbSNP gnomAD v4 | ||
11 | g.5225423C= | CA1949563609 | |||
11 | g.5225423C>T | CA217112030 | dbSNP gnomAD v3 gnomAD v4 | ||
11 | g.5225424C>A | CA677551453 | dbSNP gnomAD v3 gnomAD v4 | ||
11 | g.5225424C= | CA1949563611 | |||
11 | g.5225426T>A | CA2835775535 | |||
11 | g.5225430del | CA2612162062 | gnomAD v4 | ||
11 | g.5225428T>C | CA677551458 | dbSNP gnomAD v4 | ||
11 | g.5225428T= | CA1949563612 | |||
11 | g.5225429T>A | CA2612162064 | gnomAD v4 | ||
11 | g.5225430T>A | CA597217412 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
11 | g.5225430T>C | CA934687254 | dbSNP gnomAD v3 gnomAD v4 | ||
11 | g.5225430T= | CA1949563614 | |||
11 | g.5225431A= | CA1949563615 | |||
11 | g.5225431A>T | CA1949563616 | dbSNP gnomAD v4 | ||
11 | g.5225432G>A | CA677551465 | dbSNP gnomAD v3 gnomAD v4 | ||
11 | g.5225432G>C | CA2563912240 | gnomAD v4 | ||
11 | g.5225432G= | CA1949563618 | |||
11 | g.5225432G>T | CA658822550 | ClinVar dbSNP gnomAD v4 | ||
11 | g.5225433T>C | CA2612162068 | gnomAD v4 | ||
11 | g.5225434A>T | CA2790275014 | |||
11 | g.5225437del | CA2612162069 | gnomAD v4 | ||
11 | g.5225435A= | CA1949563620 | |||
11 | g.5225435A>C | CA1949563621 | dbSNP gnomAD v4 | ||
11 | g.5225435A>G | CA2612162071 | gnomAD v4 | ||
11 | g.5225437A>C | CA2612162072 | gnomAD v4 | ||
11 | g.5225438T>C | CA915947981 | ClinVar dbSNP gnomAD v4 | ||
11 | g.5225438T= | CA1949563622 | |||
11 | g.5225441T>A | CA2612162075 | gnomAD v4 | ||
11 | g.5225441T>C | CA2612162076 | gnomAD v4 | ||
11 | g.5225442C>A | CA2612162077 | gnomAD v4 | ||
11 | g.5225442C>G | CA2695212990 | |||
11 | g.5225444G>A | CA1949563628 | dbSNP | ||
11 | g.5225444G= | CA1949563627 | |||
11 | g.5225449_5225451del | CA2612162078 | gnomAD v4 | ||
11 | g.5225447A>G | CA2612162079 | gnomAD v4 | ||
11 | g.5225448T>A | CA2612162080 | gnomAD v4 | ||
11 | g.5225448T>C | CA1949563631 | dbSNP | ||
11 | g.5225448T= | CA1949563629 | |||
11 | g.5225449A>C | CA2612162081 | gnomAD v4 | ||
11 | g.5225450A= | CA1949563633 | |||
11 | g.5225450A>C | CA217112031 | dbSNP gnomAD v4 | ||
11 | g.5225450A>G | CA2612162082 | gnomAD v4 | ||
11 | g.5225451T>G | CA2612162083 | gnomAD v4 | ||
11 | g.5225453T>C | CA1949563635 | dbSNP | ||
11 | g.5225453T>G | CA2612162084 | gnomAD v4 | ||
11 | g.5225453T= | CA1949563634 | |||
11 | g.5225454A= | CA1949563636 | |||
11 | g.5225454A>C | CA597217413 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
11 | g.5225454A>G | CA2612162095 | gnomAD v4 | ||
11 | g.5225454A>T | CA2612162096 | gnomAD v4 | ||
11 | g.5225456A= | CA1949563637 | |||
11 | g.5225456A>G | CA934687260 | dbSNP gnomAD v3 gnomAD v4 | ||
11 | g.5225456_5225457delinsAT | CA1949563638 | |||
11 | g.5225457del | CA1949563639 | dbSNP gnomAD v4 | ||
11 | g.5225458A= | CA1949563640 | |||
11 | g.5225458A>C | CA2612162099 | gnomAD v4 | ||
11 | g.5225458A>G | CA1949563641 | dbSNP gnomAD v4 | ||
11 | g.5225458A>T | CA2612162101 | gnomAD v4 | ||
11 | g.5225459C>A | CA2612162103 | gnomAD v4 | ||
11 | g.5225459C= | CA1949563642 | |||
11 | g.5225459C>T | CA217112032 | dbSNP gnomAD v4 | ||
11 | g.5225460A= | CA1949563644 | |||
11 | g.5225460A>C | CA217112034 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
11 | g.5225460A>G | CA2612162108 | gnomAD v4 | ||
11 | g.5225462C>A | CA217112038 | dbSNP gnomAD v3 gnomAD v4 | ||
11 | g.5225462C= | CA1949563646 | |||
11 | g.5225462C>G | CA1949563647 | dbSNP | ||
11 | g.5225462C>T | CA2612162110 | dbSNP gnomAD v4 | ||
11 | g.5225463A= | CA1949563649 | |||
11 | g.5225463A>C | CA2612162111 | gnomAD v4 | ||
11 | g.5225463A>T | CA217112040 | dbSNP gnomAD v4 | ||
11 | g.5225464T>C | CA2612162112 | HBB | c.*134A>G (n.*134A>G) | gnomAD v4 |
11 | g.5225465T>C | CA934687264 | HBB | c.*133A>G (n.*133A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225465T= | CA1949563652 | HBB | c.*133A= (n.*133A=) | |
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.5225466G>A | CA645509055 | HBB | c.*132C>T (n.*132C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.5225466G>C | CA2739291417 | HBB | c.*132C>G (n.*132C>G) | |
11 | g.5225466G= | CA1949563656 | HBB | c.*132C= (n.*132C=) | |
11 | g.5225466G>T | CA677551472 | HBB | c.*132C>A (n.*132C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
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.5225467C>A | CA2612162121 | HBB | c.*131G>T (n.*131G>T) c.*391G>T (n.*391G>T) | gnomAD v4 |
11 | g.5225467C= | CA1949563657 | HBB | c.*131G= (n.*131G=) c.*391G= (n.*391G=) | |
11 | g.5225467C>T | CA677551474 | HBB | c.*131G>A (n.*131G>A) c.*391G>A (n.*391G>A) | dbSNP |
11 | g.5225468A>C | CA2612162122 | HBB | c.*130T>G (n.*130T>G) c.*390T>G (n.*390T>G) | gnomAD v4 |
11 | g.5225469A= | CA1949563661 | HBB | c.*129T= (n.*129T=) c.*389T= (n.*389T=) | |
11 | g.5225469A>G | CA677551481 | HBB | c.*129T>C (n.*129T>C) c.*389T>C (n.*389T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225469A>T | CA217112041 | HBB | c.*129T>A (n.*129T>A) c.*389T>A (n.*389T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225470T>A | CA2612162123 | HBB | c.*128A>T (n.*128A>T) c.*388A>T (n.*388A>T) | gnomAD v4 |
11 | g.5225471G>T | CA2612162124 | HBB | c.*127C>A (n.*127C>A) c.*387C>A (n.*387C>A) | gnomAD v4 |
11 | g.5225473A>C | CA2612162125 | HBB | c.*125T>G (n.*125T>G) c.*385T>G (n.*385T>G) | gnomAD v4 |
11 | g.5225473_5225474insGAGCT | CA2573027721 | HBB | c.*124_*125insAGCTC (n.*124_*125insAGCTC) c.*384_*385insAGCTC (n.*384_*385insAGCTC) | |
11 | g.5225474A>C | CA2612162126 | HBB | c.*124T>G (n.*124T>G) c.*384T>G (n.*384T>G) | gnomAD v4 |
11 | g.5225475A>G | CA2502132216 | HBB | c.*123T>C (n.*123T>C) c.*383T>C (n.*383T>C) | |
11 | g.5225478A>C | CA653938544 | HBB | c.*120T>G (n.*120T>G) c.*380T>G (n.*380T>G) | COSMIC |
11 | g.5225478A>T | CA2612162127 | HBB | c.*120T>A (n.*120T>A) c.*380T>A (n.*380T>A) | gnomAD v4 |
11 | g.5225479A= | CA1949563664 | HBB | c.*119T= (n.*119T=) c.*379T= (n.*379T=) | |
11 | g.5225479A>G | CA1949563665 | HBB | c.*119T>C (n.*119T>C) c.*379T>C (n.*379T>C) | dbSNP gnomAD v4 |
11 | g.5225480T>C | CA2695212991 | HBB | c.*118A>G (n.*118A>G) c.*378A>G (n.*378A>G) | |
11 | g.5225481_5225482del | CA2790275023 | HBB | c.*117_*118del (n.*117_*118del) c.*377_*378del (n.*377_*378del) | |
11 | g.5225481G>A | CA2580083901 | HBB | c.*117C>T (n.*117C>T) c.*377C>T (n.*377C>T) | ClinVar dbSNP |
11 | g.5225481_5225483delinsGTT | CA1949563666 | HBB | c.*115_*117delinsAAC (n.*115_*117delinsAAC) c.*375_*377delinsAAC (n.*375_*377delinsAAC) | |
11 | g.5225482T>G | CA217112044 | HBB | c.*116A>C (n.*116A>C) c.*376A>C (n.*376A>C) | dbSNP gnomAD v4 |
11 | g.5225482T= | CA1949563672 | HBB | c.*116A= (n.*116A=) c.*376A= (n.*376A=) | |
11 | g.5225487dup | CA645509056 | HBB | c.*116dup (n.*116dup) c.*376dup (n.*376dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225487del | CA2580083902 | HBB | c.*116del (n.*116del) c.*376del (n.*376del) | ClinVar gnomAD v3 gnomAD v4 |
11 | g.5225486_5225487del | CA217112045 | HBB | c.*115_*116del (n.*115_*116del) c.*375_*376del (n.*375_*376del) | ClinVar dbSNP |
11 | g.5225483T>G | CA658683668 | HBB | c.*115A>C (n.*115A>C) c.*375A>C (n.*375A>C) | ClinVar dbSNP gnomAD v4 |
11 | g.5225483T= | CA1949563675 | HBB | c.*115A= (n.*115A=) c.*375A= (n.*375A=) | |
11 | g.5225483_5225488delinsTTTTTA | CA1949563677 | HBB | c.*110_*115delinsTAAAAA (n.*110_*115delinsTAAAAA) c.*370_*375delinsTAAAAA (n.*370_*375delinsTAAAAA) | |
11 | g.5225484T>C | CA217112066 | HBB | c.*114A>G (n.*114A>G) c.*374A>G (n.*374A>G) | dbSNP |
11 | g.5225484T= | CA1949563681 | HBB | c.*114A= (n.*114A=) c.*374A= (n.*374A=) | |
11 | g.5225486_5225490del | CA125370 | HBB | c.*110_*114del (n.*110_*114del) c.*370_*374del (n.*370_*374del) | ClinVar dbSNP |
11 | g.5225484_5225485insCC | CA2790275031 | HBB | c.*113_*114insGG (n.*113_*114insGG) c.*373_*374insGG (n.*373_*374insGG) | |
11 | g.5225485T>A | CA2739306783 | HBB | c.*113A>T (n.*113A>T) c.*373A>T (n.*373A>T) | |
11 | g.5225485T>C | CA125330 | HBB | c.*113A>G (n.*113A>G) c.*373A>G (n.*373A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.5225485T>G | CA2739306784 | HBB | c.*113A>C (n.*113A>C) c.*373A>C (n.*373A>C) | |
11 | g.5225485T= | CA1949563686 | HBB | c.*113A= (n.*113A=) c.*373A= (n.*373A=) | |
11 | g.5225486T>A | CA217112071 | HBB | c.*112A>T (n.*112A>T) c.*372A>T (n.*372A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225486T>C | CA125331 | HBB | c.*112A>G (n.*112A>G) c.*372A>G (n.*372A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.5225486T= | CA1949563697 | HBB | c.*112A= (n.*112A=) c.*372A= (n.*372A=) | |
11 | g.5225486_5225488delinsTTA | CA1949563696 | HBB | c.*110_*112delinsTAA (n.*110_*112delinsTAA) c.*370_*372delinsTAA (n.*370_*372delinsTAA) | |
11 | g.5225487T>A | CA2739306781 | HBB | c.*111A>T (n.*111A>T) c.*371A>T (n.*371A>T) | |
11 | g.5225487T>C | CA125347 | HBB | c.*111A>G (n.*111A>G) c.*371A>G (n.*371A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225487T>G | CA2739306782 | HBB | c.*111A>C (n.*111A>C) c.*371A>C (n.*371A>C) | |
11 | g.5225487T= | CA1949563707 | HBB | c.*111A= (n.*111A=) c.*371A= (n.*371A=) | |
11 | g.5225488_5225489del | CA217112080 | HBB | c.*110_*111del (n.*110_*111del) c.*370_*371del (n.*370_*371del) | ClinVar dbSNP gnomAD v4 |
11 | g.5225487_5225488insC | CA2580083903 | HBB | c.*110_*111insG (n.*110_*111insG) c.*370_*371insG (n.*370_*371insG) | ClinVar |
11 | g.5225488A= | CA1949563725 | HBB | c.*110T= (n.*110T=) c.*370T= (n.*370T=) | |
11 | g.5225488A>C | CA2695212992 | HBB | c.*110T>G (n.*110T>G) c.*370T>G (n.*370T>G) | |
11 | g.5225488A>G | CA213889 | HBB | c.*110T>C (n.*110T>C) c.*370T>C (n.*370T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225488A>T | CA217112088 | HBB | c.*110T>A (n.*110T>A) c.*370T>A (n.*370T>A) | ClinVar dbSNP gnomAD v4 |
11 | g.5225490T>C | CA916083171 | HBB | c.*108A>G (n.*108A>G) c.*368A>G (n.*368A>G) | ClinVar dbSNP |
11 | g.5225490T>G | CA2695212993 | HBB | c.*108A>C (n.*108A>C) c.*368A>C (n.*368A>C) | |
11 | g.5225490T= | CA1949563726 | HBB | c.*108A= (n.*108A=) c.*368A= (n.*368A=) | |
11 | g.5225491A>G | CA2612162146 | HBB | c.*107T>C (n.*107T>C) c.*367T>C (n.*367T>C) | gnomAD v4 |
11 | g.5225492G>A | CA597217416 | HBB | c.*106C>T (n.*106C>T) c.*366C>T (n.*366C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225492G>C | CA2612162147 | HBB | c.*106C>G (n.*106C>G) c.*366C>G (n.*366C>G) | gnomAD v4 |
11 | g.5225492G= | CA1949563732 | HBB | c.*106C= (n.*106C=) c.*366C= (n.*366C=) | |
11 | g.5225492G>T | CA2612162148 | HBB | c.*106C>A (n.*106C>A) c.*366C>A (n.*366C>A) | gnomAD v4 |
11 | g.5225492_5225505delinsGGCAGAATCCAGAT | CA1949563731 | HBB | c.*93_*106delinsATCTGGATTCTGCC (n.*93_*106delinsATCTGGATTCTGCC) c.*353_*366delinsATCTGGATTCTGCC (n.*353_*366delinsATCTGGATTCTGCC) | |
11 | g.5225493G>A | CA1949563740 | HBB | c.*105C>T (n.*105C>T) c.*365C>T (n.*365C>T) | dbSNP |
11 | g.5225493G>C | CA2790275040 | HBB | c.*105C>G (n.*105C>G) c.*365C>G (n.*365C>G) | |
11 | g.5225493G= | CA1949563738 | HBB | c.*105C= (n.*105C=) c.*365C= (n.*365C=) | |
11 | g.5225493G>T | CA2612162150 | HBB | c.*105C>A (n.*105C>A) c.*365C>A (n.*365C>A) | gnomAD v4 |
11 | g.5225495_5225507del | CA217112095 | HBB | c.*93_*105del (n.*93_*105del) c.*353_*365del (n.*353_*365del) | ClinVar dbSNP |
11 | g.5225494C>A | CA2612162153 | HBB | c.*104G>T (n.*104G>T) c.*364G>T (n.*364G>T) | gnomAD v4 |
11 | g.5225494C= | CA1949563746 | HBB | c.*104G= (n.*104G=) c.*364G= (n.*364G=) | |
11 | g.5225494C>T | CA913190227 | HBB | c.*104G>A (n.*104G>A) c.*364G>A (n.*364G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225498_5225504del | CA2612162151 | HBB | c.*98_*104del (n.*98_*104del) c.*358_*364del (n.*358_*364del) | gnomAD v4 |
11 | g.5225496G>A | CA658683669 | HBB | c.*102C>T (n.*102C>T) c.*362C>T (n.*362C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225496G>C | CA934687289 | HBB | c.*102C>G (n.*102C>G) c.*362C>G (n.*362C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225496G= | CA1949563750 | HBB | c.*102C= (n.*102C=) c.*362C= (n.*362C=) | |
11 | g.5225496G>T | CA2546489561 | HBB | c.*102C>A (n.*102C>A) c.*362C>A (n.*362C>A) | gnomAD v4 |
11 | g.5225498A>C | CA2612162156 | HBB | c.*100T>G (n.*100T>G) c.*360T>G (n.*360T>G) | gnomAD v4 |
11 | g.5225499T>G | CA2790275044 | HBB | c.*99A>C (n.*99A>C) c.*359A>C (n.*359A>C) | |
11 | g.5225500C>A | CA677551541 | HBB | c.*98G>T (n.*98G>T) c.*358G>T (n.*358G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225500C= | CA1949563762 | HBB | c.*98G= (n.*98G=) c.*358G= (n.*358G=) | |
11 | g.5225500C>T | CA1949563761 | HBB | c.*98G>A (n.*98G>A) c.*358G>A (n.*358G>A) | dbSNP gnomAD v4 |
11 | g.5225501C= | CA1949563767 | HBB | c.*97G= (n.*97G=) c.*357G= (n.*357G=) | |
11 | g.5225501C>G | CA217112100 | HBB | c.*97G>C (n.*97G>C) c.*357G>C (n.*357G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225501C>T | CA2574735550 | HBB | c.*97G>A (n.*97G>A) c.*357G>A (n.*357G>A) | |
11 | g.5225502A= | CA1949563776 | HBB | c.*96T= (n.*96T=) c.*356T= (n.*356T=) | |
11 | g.5225502A>C | CA2838151891 | HBB | c.*96T>G (n.*96T>G) c.*356T>G (n.*356T>G) | |
11 | g.5225502A>G | CA342875 | HBB | c.*96T>C (n.*96T>C) c.*356T>C (n.*356T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225502A>T | CA2838151890 | HBB | c.*96T>A (n.*96T>A) c.*356T>A (n.*356T>A) | |
11 | g.5225503G>A | CA2838298644 | HBB | c.*95C>T (n.*95C>T) c.*355C>T (n.*355C>T) | |
11 | g.5225503G>C | CA2612162161 | HBB | c.*95C>G (n.*95C>G) c.*355C>G (n.*355C>G) | gnomAD v4 |
11 | g.5225503G>T | CA2612162163 | HBB | c.*95C>A (n.*95C>A) c.*355C>A (n.*355C>A) | gnomAD v4 |
11 | g.5225504A= | CA1949563782 | HBB | c.*94T= (n.*94T=) c.*354T= (n.*354T=) | |
11 | g.5225504A>G | CA1949563783 | HBB | c.*94T>C (n.*94T>C) c.*354T>C (n.*354T>C) | dbSNP |
11 | g.5225504A>T | CA2790275055 | HBB | c.*94T>A (n.*94T>A) c.*354T>A (n.*354T>A) | |
11 | g.5225505T>A | CA217112101 | HBB | c.*93A>T (n.*93A>T) c.*353A>T (n.*353A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225505T>C | CA2574735551 | HBB | c.*93A>G (n.*93A>G) c.*353A>G (n.*353A>G) | gnomAD v4 |
11 | g.5225505T= | CA1949563785 | HBB | c.*93A= (n.*93A=) c.*353A= (n.*353A=) | |
11 | g.5225506G>A | CA2574735552 | HBB | c.*92C>T (n.*92C>T) c.*352C>T (n.*352C>T) | |
11 | g.5225506G>C | CA2790275056 | HBB | c.*92C>G (n.*92C>G) c.*352C>G (n.*352C>G) | |
11 | g.5225506G= | CA1949563788 | HBB | c.*92C= (n.*92C=) c.*352C= (n.*352C=) | |
11 | g.5225506G>T | CA1949563789 | HBB | c.*92C>A (n.*92C>A) c.*352C>A (n.*352C>A) | dbSNP gnomAD v4 |
11 | g.5225507C>A | CA2612162170 | HBB | c.*91G>T (n.*91G>T) c.*351G>T (n.*351G>T) | gnomAD v4 |
11 | g.5225507C= | CA1949563792 | HBB | c.*91G= (n.*91G=) c.*351G= (n.*351G=) | |
11 | g.5225507C>T | CA342874 | HBB | c.*91G>A (n.*91G>A) c.*351G>A (n.*351G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |