Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5224303_5227790delCA2499220996 ClinVar
11g.5225158_5227199delinsCTTATCA916083168 ClinVar
11g.5225895_5227411delinsTCA916083175 ClinVar
11g.5226164_5227556delCA916083178 ClinVar
11g.5226452_5228055delCA916083180 ClinVar
11g.5226570_5233984delCA124670 ClinVar
11g.5226638_5234052delCA124669 ClinVar
11g.5226641_5227549delCA916083189HBBc.-56_251del
ClinVar
11g.5226755_5227283delCA2499221076HBBc.-19+234_142del
ClinVar
11g.5226800_5226991delCA2695213056HBBc.33_94del
n.84_145del
c.33_78del
11g.5226904_5227197delinsACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGCA1949570069HBBc.-176_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT
c.-18-158_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT
11g.5226905_5227197delCA891862904HBBc.-176_92+25del
c.-18-158_92+25del
ClinVar dbSNP
11g.5226914_5234326delCA124673 ClinVar
11g.5226929_5227071delinsCCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTCA1949570216HBBc.-50_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG
c.-18-32_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG
n.2_143+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG
c.-50_76+17delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG
11g.5226930_5227071delCA1139661798HBBc.-50_92del
c.-18-32_92del
n.2_143del
c.-50_76+16del
ClinVar dbSNP
11g.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCCA1949570429HBBc.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT
11g.5226948_5227485delCA916083211HBBc.-19+27_74del
ClinVar dbSNP
11g.5226975dupCA916083212HBBc.50dup (p.Lys18GlnfsTer6)
n.101dup
ClinVar dbSNP
11g.5226975delCA916083213HBBc.50del (p.Gly17AlafsTer3)
n.101del
ClinVar dbSNP
11g.5226975C>ACA379274884HBBc.47G>T (p.Trp16Leu)
n.98G>T
11g.5226975C=CA1949570710HBBc.47G= (p.Trp16=)
n.98G=
11g.5226975C>GCA379274885HBBc.47G>C (p.Trp16Ser)
n.98G>C
11g.5226975C>TCA125261HBBc.47G>A (p.Trp16Ter)
n.98G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5226975_5226976delinsCACA1949570706HBBc.46_47delinsTG (p.Trp16=)
n.97_98delinsTG
11g.5226975_5226978delCA2612162293HBBc.44_47del (p.Leu15ArgfsTer4)
n.95_98del
gnomAD v4
11g.5226976delCA217115396HBBc.46del (p.Trp16GlyfsTer4)
n.97del
ClinVar dbSNP gnomAD v4
11g.5226976A=CA1949570728HBBc.46T= (p.Trp16=)
n.97T=
11g.5226976A>CCA125124HBBc.46T>G (p.Trp16Gly)
n.97T>G
ClinVar dbSNP
11g.5226976A>GCA217115404HBBc.46T>C (p.Trp16Arg)
n.97T>C
dbSNP
11g.5226976A>TCA124742HBBc.46T>A (p.Trp16Arg)
n.97T>A
ClinVar dbSNP
11g.5226976dupCA2695213066HBBc.46dup (p.Trp16LeufsTer8)
n.97dup
11g.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCTCA1949570725HBBc.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT (p.Glu7=)
n.71_97delinsAGGAGAAGTCTGCCGTTACTGCCCTGT
11g.5226976_5226977insGCA2695213067HBBc.45_46insC (p.Trp16LeufsTer8)
n.96_97insC
11g.5226977C>ACA472885860HBBc.45G>T (p.Leu15=)
n.96G>T
ClinVar
11g.5226977C=CA1949570744HBBc.45G= (p.Leu15=)
n.96G=
11g.5226977C>GCA472885861HBBc.45G>C (p.Leu15=)
n.96G>C
gnomAD v4
11g.5226977C>TCA5839816HBBc.45G>A (p.Leu15=)
n.96G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5226977dupCA125292HBBc.45dup (p.Trp16ValfsTer8)
n.96dup
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.5226977_5226978delinsCACA1949570747HBBc.44_45delinsTG (p.Leu15=)
n.95_96delinsTG
11g.5226981_5227006delCA916083214HBBc.20_45del (p.Glu7ValfsTer8)
n.71_96del
ClinVar dbSNP
11g.5226978delCA916083216HBBc.44del (p.Leu15ArgfsTer5)
n.95del
ClinVar dbSNP
11g.5226978A=CA1949570763HBBc.44T= (p.Leu15=)
n.95T=
11g.5226978A>CCA125172HBBc.44T>G (p.Leu15Arg)
n.95T>G
ClinVar dbSNP gnomAD v4
11g.5226978A>GCA125145HBBc.44T>C (p.Leu15Pro)
n.95T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.5226978A>TCA379274896HBBc.44T>A (p.Leu15Gln)
n.95T>A
11g.5226978dupCA916083215HBBc.44dup (p.Trp16ValfsTer8)
n.95dup
ClinVar dbSNP
11g.5226979G>ACA472885862HBBc.43C>T (p.Leu15=)
n.94C>T
11g.5226979G>CCA379274900HBBc.43C>G (p.Leu15Val)
n.94C>G
dbSNP
11g.5226979G=CA1949570773HBBc.43C= (p.Leu15=)
n.94C=
11g.5226979G>TCA379274898HBBc.43C>A (p.Leu15Met)
n.94C>A

Number of alleles fetched