Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5218346_5226066delCA916083167 ClinVar
11g.5224303_5227790delCA2499220996 ClinVar
11g.5225158_5227199delinsCTTATCA916083168 ClinVar
11g.5225255_5225875delinsCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCACA1949563432
11g.5225256_5225874delinsAAGTAGCA658820845
11g.5225256_5225874delinsTCTACTTCA923726280
11g.5225256_5225875delinsTCTACCTCA915940749
11g.5225256_5225875delinsTCTACTTCA915940716 ClinVar dbSNP
11g.5225388_5226007delinsTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAACA1949563581
11g.5225389_5226007delCA916083169 ClinVar dbSNP
11g.5225465_5225726delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCA1949563653HBBc.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA (n.[c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA;Leu106=])
11g.5225465_5225875delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCACA1949563650HBBc.316-149_*133delinsTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA
11g.5225466_5225726delCA916083170HBBc.316_*132del (n.[c.316_*132del;Leu106=])
ClinVar dbSNP
11g.5225467_5225876delCA915947982HBBc.316-149_*132del
ClinVar dbSNP
11g.5225597_5225726delinsCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCA1949564026HBBc.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.[c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG;Leu106=])
c.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG)
11g.5225598T>ACA379273633HBBc.444A>T (p.Ter148Tyr)
c.*260A>T (n.*260A>T)
11g.5225598T>CCA472638255HBBc.444A>G (p.Ter148=)
c.*260A>G (n.*260A>G)
gnomAD v4
11g.5225598T>GCA379273634HBBc.444A>C (p.Ter148Tyr)
c.*260A>C (n.*260A>C)
11g.5225598T=CA1949564036HBBc.444A= (p.Ter148=)
c.*260A= (n.*260A=)
11g.5225598_5225726delCA1139661787HBBc.316_444del (p.Leu106_Ter148del)
c.*132_*260del (n.*132_*260del)
ClinVar dbSNP
11g.5225599T>ACA379273635HBBc.443A>T (p.Ter148Leu)
c.*259A>T (n.*259A>T)
11g.5225599T>CCA472638256HBBc.443A>G (p.Ter148=)
c.*259A>G (n.*259A>G)
gnomAD v4
11g.5225599T>GCA379273636HBBc.443A>C (p.Ter148Ser)
c.*259A>C (n.*259A>C)
11g.5225599_5225600dupCA217112180HBBc.442_443dup (p.Ter148TyrextTer12)
c.*258_*259dup (n.*258_*259dup)
dbSNP
11g.5225600A=CA1949564040HBBc.442T= (p.Ter148=)
c.*258T= (n.*258T=)
11g.5225600A>CCA379273637HBBc.442T>G (p.Ter148Glu)
c.*258T>G (n.*258T>G)
11g.5225600A>GCA379273638HBBc.442T>C (p.Ter148Gln)
c.*258T>C (n.*258T>C)
11g.5225600A>TCA379273639HBBc.442T>A (p.Ter148Lys)
c.*258T>A (n.*258T>A)
COSMIC
11g.5225601G>ACA472638257HBBc.441C>T (p.His147=)
c.*257C>T (n.*257C>T)
gnomAD v4
11g.5225601G>CCA125513HBBc.441C>G (p.His147Gln)
c.*257C>G (n.*257C>G)
ClinVar dbSNP
11g.5225601G=CA1949564056HBBc.441C= (p.His147=)
c.*257C= (n.*257C=)
11g.5225601G>TCA125360HBBc.441C>A (p.His147Gln)
c.*257C>A (n.*257C>A)
ClinVar dbSNP
11g.5225602_5225603dupCA125198HBBc.440_441dup (p.Ter148ThrextTer12)
c.*256_*257dup (n.*256_*257dup)
ClinVar dbSNP
11g.5225602T>ACA124809HBBc.440A>T (p.His147Leu)
c.*256A>T (n.*256A>T)
ClinVar dbSNP
11g.5225602T>CCA124799HBBc.440A>G (p.His147Arg)
c.*256A>G (n.*256A>G)
ClinVar dbSNP
11g.5225602T>GCA125245HBBc.440A>C (p.His147Pro)
c.*256A>C (n.*256A>C)
ClinVar dbSNP
11g.5225602T=CA1949564072HBBc.440A= (p.His147=)
c.*256A= (n.*256A=)
11g.5225603G>ACA125478HBBc.439C>T (p.His147Tyr)
c.*255C>T (n.*255C>T)
ClinVar dbSNP
11g.5225603G>CCA124910HBBc.439C>G (p.His147Asp)
c.*255C>G (n.*255C>G)
ClinVar dbSNP
11g.5225603G=CA1949564089HBBc.439C= (p.His147=)
c.*255C= (n.*255C=)
11g.5225603G>TCA379273640HBBc.439C>A (p.His147Asn)
c.*255C>A (n.*255C>A)
11g.5225604A=CA1949564102HBBc.438T= (p.Tyr146=)
c.*254T= (n.*254T=)
11g.5225604A>CCA379273641HBBc.438T>G (p.Tyr146Ter)
c.*254T>G (n.*254T>G)
11g.5225604A>GCA472638258HBBc.438T>C (p.Tyr146=)
c.*254T>C (n.*254T>C)
11g.5225604A>TCA125026HBBc.438T>A (p.Tyr146Ter)
c.*254T>A (n.*254T>A)
ClinVar dbSNP
11g.5225605T>ACA379273642HBBc.437A>T (p.Tyr146Phe)
c.*253A>T (n.*253A>T)
11g.5225605T>CCA125120HBBc.437A>G (p.Tyr146Cys)
c.*253A>G (n.*253A>G)
ClinVar dbSNP
11g.5225605T>GCA379273643HBBc.437A>C (p.Tyr146Ser)
c.*253A>C (n.*253A>C)
11g.5225605T=CA1949564107HBBc.437A= (p.Tyr146=)
c.*253A= (n.*253A=)
11g.5225606A=CA1949564121HBBc.436T= (p.Tyr146=)
c.*252T= (n.*252T=)

Number of alleles fetched