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.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.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCT | CA1949570725 | HBB | c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT (p.Glu7=) n.71_97delinsAGGAGAAGTCTGCCGTTACTGCCCTGT | |
11 | g.5226981_5227006del | CA916083214 | HBB | c.20_45del (p.Glu7ValfsTer8) n.71_96del | ClinVar dbSNP |
11 | g.5226985_5226993del | CA2695213069 | HBB | c.34_42del (p.Val12_Ala14del) n.85_93del | |
11 | g.5226989_5227001del | CA2695213070 | HBB | c.22_34del (p.Glu8LeufsTer8) n.73_85del | |
11 | g.5226989_5227002delinsGGCAGACTTCTCCT | CA1949570876 | HBB | c.20_33delinsAGGAGAAGTCTGCC (p.Glu7=) n.71_84delinsAGGAGAAGTCTGCC | |
11 | g.5226990_5227002del | CA916083218 | HBB | c.20_32del (p.Glu7AlafsTer9) n.71_83del | ClinVar dbSNP |
11 | g.5226990_5227095delinsGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGA | CA1949570884 | HBB | c.-74_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC c.-18-56_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC | |
11 | g.5226992_5227096del | CA916083219 | HBB | c.-74_31del c.-18-56_31del | ClinVar dbSNP |
11 | g.5226993G>A | CA379274946 | HBB | c.29C>T (p.Ser10Phe) n.80C>T | |
11 | g.5226993G>C | CA125110 | HBB | c.29C>G (p.Ser10Cys) n.80C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5226993G= | CA1949570926 | HBB | c.29C= (p.Ser10=) n.80C= | |
11 | g.5226993G>T | CA125538 | HBB | c.29C>A (p.Ser10Tyr) n.80C>A | ClinVar dbSNP |
11 | g.5226995_5227524del | CA2739276176 | HBB | c.-29_29del | ClinVar |
11 | g.5226993_5227525delinsGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGAT | CA1949570927 | HBB | c.-32_29delinsATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTC | |
11 | g.5226993_5226994insTA | CA916083220 | HBB | c.28_29insTA (p.Ser10LeufsTer11) n.79_80insTA | ClinVar dbSNP |
11 | g.5226994A= | CA1949570940 | HBB | c.28T= (p.Ser10=) n.79T= | |
11 | g.5226994A>C | CA379274949 | HBB | c.28T>G (p.Ser10Ala) n.79T>G | dbSNP |
11 | g.5226994A>G | CA379274951 | HBB | c.28T>C (p.Ser10Pro) n.79T>C | |
11 | g.5226994A>T | CA379274953 | HBB | c.28T>A (p.Ser10Thr) n.79T>A | gnomAD v4 |
11 | g.5226994_5227525del | CA916083221 | HBB | c.-32_28del | ClinVar dbSNP |
11 | g.5226994_5226995insTTCT | CA916083222 | HBB | c.27_28insAGAA (p.Ser10ArgfsTer15) n.78_79insAGAA | ClinVar dbSNP |
11 | g.5226995del | CA2695213071 | HBB | c.27del (p.Lys9AsnfsTer11) n.78del | |
11 | g.5226995C>A | CA379274955 | HBB | c.27G>T (p.Lys9Asn) n.78G>T | |
11 | g.5226995C= | CA1949570953 | HBB | c.27G= (p.Lys9=) n.78G= | |
11 | g.5226995C>G | CA125503 | HBB | c.27G>C (p.Lys9Asn) n.78G>C | ClinVar dbSNP COSMIC |
11 | g.5226995C>T | CA472885719 | HBB | c.27G>A (p.Lys9=) n.78G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5226995dup | CA125282 | HBB | c.27dup (p.Ser10ValfsTer14) n.78dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226995_5226997delinsCTT | CA1949570950 | HBB | c.25_27delinsAAG (p.Lys9=) n.76_78delinsAAG | |
11 | g.5226996T>A | CA125428 | HBB | c.26A>T (p.Lys9Met) n.77A>T | ClinVar dbSNP |
11 | g.5226996T>C | CA125468 | HBB | c.26A>G (p.Lys9Arg) n.77A>G | ClinVar dbSNP |
11 | g.5226996T>G | CA130022 | HBB | c.26A>C (p.Lys9Thr) n.77A>C | ClinVar dbSNP |
11 | g.5226996T= | CA1949570971 | HBB | c.26A= (p.Lys9=) n.77A= | |
11 | g.5226996_5226997del | CA125279 | HBB | c.25_26del (p.Lys9ValfsTer14) n.76_77del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226996_5226999dup | CA2695213072 | HBB | c.23_26dup (p.Ser10GlufsTer15) n.74_77dup |