Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
11 | g.5225895_5227411delinsT | CA916083175 | ClinVar | ||
11 | g.5226164_5227556del | CA916083178 | ClinVar | ||
11 | g.5226452_5228055del | CA916083180 | ClinVar | ||
11 | g.5226570_5233984del | CA124670 | ClinVar | ||
11 | g.5226638_5234052del | CA124669 | ClinVar | ||
11 | g.5226641_5227549del | CA916083189 | HBB | c.-56_251del | ClinVar |
11 | g.5226755_5227283del | CA2499221076 | HBB | c.-19+234_142del | ClinVar |
11 | g.5226800_5226991del | CA2695213056 | HBB | c.33_94del n.84_145del c.33_78del | |
11 | g.5226904_5227197delinsACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCG | CA1949570069 | HBB | c.-176_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT c.-18-158_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT | |
11 | g.5226905_5227197del | CA891862904 | HBB | c.-176_92+25del c.-18-158_92+25del | ClinVar dbSNP |
11 | g.5226914_5234326del | CA124673 | ClinVar | ||
11 | g.5226929_5227071delinsCCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGT | CA1949570216 | HBB | c.-50_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-18-32_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG n.2_143+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-50_76+17delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG | |
11 | g.5226930_5227071del | CA1139661798 | HBB | c.-50_92del c.-18-32_92del n.2_143del c.-50_76+16del | ClinVar dbSNP |
11 | g.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC | CA1949570429 | HBB | c.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT | |
11 | g.5226948_5227485del | CA916083211 | HBB | c.-19+27_74del | ClinVar dbSNP |
11 | g.5226975dup | CA916083212 | HBB | c.50dup (p.Lys18GlnfsTer6) n.101dup | ClinVar dbSNP |
11 | g.5226975del | CA916083213 | HBB | c.50del (p.Gly17AlafsTer3) n.101del | ClinVar dbSNP |
11 | g.5226975C>A | CA379274884 | HBB | c.47G>T (p.Trp16Leu) n.98G>T | |
11 | g.5226975C= | CA1949570710 | HBB | c.47G= (p.Trp16=) n.98G= | |
11 | g.5226975C>G | CA379274885 | HBB | c.47G>C (p.Trp16Ser) n.98G>C | |
11 | g.5226975C>T | CA125261 | HBB | c.47G>A (p.Trp16Ter) n.98G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226975_5226976delinsCA | CA1949570706 | HBB | c.46_47delinsTG (p.Trp16=) n.97_98delinsTG | |
11 | g.5226975_5226978del | CA2612162293 | HBB | c.44_47del (p.Leu15ArgfsTer4) n.95_98del | gnomAD v4 |
11 | g.5226976del | CA217115396 | HBB | c.46del (p.Trp16GlyfsTer4) n.97del | ClinVar dbSNP gnomAD v4 |
11 | g.5226976A= | CA1949570728 | HBB | c.46T= (p.Trp16=) n.97T= | |
11 | g.5226976A>C | CA125124 | HBB | c.46T>G (p.Trp16Gly) n.97T>G | ClinVar dbSNP |
11 | g.5226976A>G | CA217115404 | HBB | c.46T>C (p.Trp16Arg) n.97T>C | dbSNP |
11 | g.5226976A>T | CA124742 | HBB | c.46T>A (p.Trp16Arg) n.97T>A | ClinVar dbSNP |
11 | g.5226976dup | CA2695213066 | HBB | c.46dup (p.Trp16LeufsTer8) n.97dup | |
11 | g.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCT | CA1949570725 | HBB | c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT (p.Glu7=) n.71_97delinsAGGAGAAGTCTGCCGTTACTGCCCTGT | |
11 | g.5226976_5226977insG | CA2695213067 | HBB | c.45_46insC (p.Trp16LeufsTer8) n.96_97insC | |
11 | g.5226977C>A | CA472885860 | HBB | c.45G>T (p.Leu15=) n.96G>T | ClinVar |
11 | g.5226977C= | CA1949570744 | HBB | c.45G= (p.Leu15=) n.96G= | |
11 | g.5226977C>G | CA472885861 | HBB | c.45G>C (p.Leu15=) n.96G>C | gnomAD v4 |
11 | g.5226977C>T | CA5839816 | HBB | c.45G>A (p.Leu15=) n.96G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226977dup | CA125292 | HBB | c.45dup (p.Trp16ValfsTer8) n.96dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.5226977_5226978delinsCA | CA1949570747 | HBB | c.44_45delinsTG (p.Leu15=) n.95_96delinsTG | |
11 | g.5226981_5227006del | CA916083214 | HBB | c.20_45del (p.Glu7ValfsTer8) n.71_96del | ClinVar dbSNP |
11 | g.5226978del | CA916083216 | HBB | c.44del (p.Leu15ArgfsTer5) n.95del | ClinVar dbSNP |
11 | g.5226978A= | CA1949570763 | HBB | c.44T= (p.Leu15=) n.95T= | |
11 | g.5226978A>C | CA125172 | HBB | c.44T>G (p.Leu15Arg) n.95T>G | ClinVar dbSNP gnomAD v4 |
11 | g.5226978A>G | CA125145 | HBB | c.44T>C (p.Leu15Pro) n.95T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5226978A>T | CA379274896 | HBB | c.44T>A (p.Leu15Gln) n.95T>A | |
11 | g.5226978dup | CA916083215 | HBB | c.44dup (p.Trp16ValfsTer8) n.95dup | ClinVar dbSNP |
11 | g.5226979G>A | CA472885862 | HBB | c.43C>T (p.Leu15=) n.94C>T | |
11 | g.5226979G>C | CA379274900 | HBB | c.43C>G (p.Leu15Val) n.94C>G | dbSNP |
11 | g.5226979G= | CA1949570773 | HBB | c.43C= (p.Leu15=) n.94C= | |
11 | g.5226979G>T | CA379274898 | HBB | c.43C>A (p.Leu15Met) n.94C>A |