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.5225580G= | CA1949563973 | HBB | c.*18C= (n.*18C=) c.*278C= (n.*278C=) | |
11 | g.5225580G>T | CA597217430 | HBB | c.*18C>A (n.*18C>A) c.*278C>A (n.*278C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.5225581A= | CA1949563977 | HBB | c.*17T= (n.*17T=) c.*277T= (n.*277T=) | |
11 | g.5225581A>G | CA597217431 | HBB | c.*17T>C (n.*17T>C) c.*277T>C (n.*277T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5225582C>T | CA2580083904 | HBB | c.*16G>A (n.*16G>A) c.*276G>A (n.*276G>A) | ClinVar |
11 | g.5225584G>A | CA5839681 | HBB | c.*14C>T (n.*14C>T) c.*274C>T (n.*274C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5225584G= | CA1949563979 | HBB | c.*14C= (n.*14C=) c.*274C= (n.*274C=) | |
11 | g.5225584G>T | CA597217432 | HBB | c.*14C>A (n.*14C>A) c.*274C>A (n.*274C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225585C>T | CA2612162250 | HBB | c.*13G>A (n.*13G>A) c.*273G>A (n.*273G>A) | gnomAD v4 |
11 | g.5225587A= | CA1949563982 | HBB | c.*11T= (n.*11T=) c.*271T= (n.*271T=) | |
11 | g.5225587A>G | CA5839682 | HBB | c.*11T>C (n.*11T>C) c.*271T>C (n.*271T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225588G>A | CA597217433 | HBB | c.*10C>T (n.*10C>T) c.*270C>T (n.*270C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5225588G= | CA1949563987 | HBB | c.*10C= (n.*10C=) c.*270C= (n.*270C=) | |
11 | g.5225589A= | CA1949563989 | HBB | c.*9T= (n.*9T=) c.*269T= (n.*269T=) | |
11 | g.5225589A>G | CA5839683 | HBB | c.*9T>C (n.*9T>C) c.*269T>C (n.*269T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225590A>C | CA2612162251 | HBB | c.*8T>G (n.*8T>G) c.*268T>G (n.*268T>G) | gnomAD v4 |
11 | g.5225592G>A | CA597217434 | HBB | c.*6C>T (n.*6C>T) c.*266C>T (n.*266C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225592G>C | CA16609382 | HBB | c.*6C>G (n.*6C>G) c.*266C>G (n.*266C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.5225592G= | CA1949563998 | HBB | c.*6C= (n.*6C=) c.*266C= (n.*266C=) | |
11 | g.5225592G>T | CA677551653 | HBB | c.*6C>A (n.*6C>A) c.*266C>A (n.*266C>A) | dbSNP gnomAD v4 |
11 | g.5225593C>A | CA2612162253 | HBB | c.*5G>T (n.*5G>T) c.*265G>T (n.*265G>T) | gnomAD v4 |
11 | g.5225593C= | CA1949564011 | HBB | c.*5G= (n.*5G=) c.*265G= (n.*265G=) | |
11 | g.5225593C>G | CA2580083905 | HBB | c.*5G>C (n.*5G>C) c.*265G>C (n.*265G>C) | ClinVar |
11 | g.5225593C>T | CA5839684 | HBB | c.*5G>A (n.*5G>A) c.*265G>A (n.*265G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225594G>A | CA5839685 | HBB | c.*4C>T (n.*4C>T) c.*264C>T (n.*264C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225594G= | CA1949564017 | HBB | c.*4C= (n.*4C=) c.*264C= (n.*264C=) | |
11 | g.5225595A>G | CA2574735563 | HBB | c.*3T>C (n.*3T>C) c.*263T>C (n.*263T>C) | |
11 | g.5225596G>A | CA2612162255 | HBB | c.*2C>T (n.*2C>T) c.*262C>T (n.*262C>T) | gnomAD v4 |
11 | g.5225596G>T | CA2790275090 | HBB | c.*2C>A (n.*2C>A) c.*262C>A (n.*262C>A) | |
11 | g.5225597C= | CA1949564022 | HBB | c.*1G= (n.*1G=) c.*261G= (n.*261G=) | |
11 | g.5225597C>T | CA5839686 | HBB | c.*1G>A (n.*1G>A) c.*261G>A (n.*261G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5225597_5225726delinsCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949564026 | HBB | c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.[c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG;Leu106=]) c.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG) | |
11 | g.5225598T>A | CA379273633 | HBB | c.444A>T (p.Ter148Tyr) c.*260A>T (n.*260A>T) | |
11 | g.5225598T>C | CA472638255 | HBB | c.444A>G (p.Ter148=) c.*260A>G (n.*260A>G) | gnomAD v4 |
11 | g.5225598T>G | CA379273634 | HBB | c.444A>C (p.Ter148Tyr) c.*260A>C (n.*260A>C) | |
11 | g.5225598T= | CA1949564036 | HBB | c.444A= (p.Ter148=) c.*260A= (n.*260A=) |