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.5226945_5226956del | CA217115169 | HBB | c.69_80del (p.Val24_Glu27del) n.120_131del c.69_76+4del | dbSNP |
11 | g.5226947_5226954del | CA2695213061 | HBB | c.68_75del (p.Glu23GlyfsTer2) n.119_126del c.68_75del (p.Glu23GlyfsTer?) | |
11 | g.5226947_5226954delinsACCAACTT | CA1949570426 | HBB | c.68_75delinsAAGTTGGT (p.Glu23=) n.119_126delinsAAGTTGGT | |
11 | g.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC | CA1949570429 | HBB | c.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT | |
11 | g.5226949_5226955del | CA217115218 | HBB | c.68_74del (p.Glu23ValfsTer?) n.119_125del c.68_74del (p.Glu23ValfsTer14) | ClinVar dbSNP |
11 | g.5226948_5227485del | CA916083211 | HBB | c.-19+27_74del | ClinVar dbSNP |
11 | g.5226954T>A | CA124818 | HBB | c.68A>T (p.Glu23Val) n.119A>T | ClinVar dbSNP |
11 | g.5226954T>C | CA124867 | HBB | c.68A>G (p.Glu23Gly) n.119A>G | ClinVar dbSNP gnomAD v4 |
11 | g.5226954T>G | CA124853 | HBB | c.68A>C (p.Glu23Ala) n.119A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226954T= | CA1949570496 | HBB | c.68A= (p.Glu23=) n.119A= | |
11 | g.5226954_5226955delinsGG | CA2695213063 | HBB | c.67_68delinsCC (p.Glu23Pro) n.118_119delinsCC | |
11 | g.5226955C>A | CA217115260 | HBB | c.67G>T (p.Glu23Ter) n.118G>T | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.5226955C= | CA1949570500 | HBB | c.67G= (p.Glu23=) n.118G= | |
11 | g.5226955C>G | CA124822 | HBB | c.67G>C (p.Glu23Gln) n.118G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226955C>T | CA124839 | HBB | c.67G>A (p.Glu23Lys) n.118G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5226955_5226956insTGCAAGGCTAC | CA934688340 | HBB | c.67_68insTAGCCTTGCAG (p.Glu23ValfsTer?) n.118_119insTAGCCTTGCAG c.67_68insTAGCCTTGCAG (p.Glu23ValfsTer20) | gnomAD v3 gnomAD v4 |
11 | g.5226957_5226960del | CA2695213064 | HBB | c.64_67del (p.Asp22LysfsTer?) n.115_118del c.64_67del (p.Asp22LysfsTer16) | |
11 | g.5226955_5226969delinsCATCCACGTTCACCT | CA1949570517 | HBB | c.53_67delinsAGGTGAACGTGGATG (p.Lys18=) n.104_118delinsAGGTGAACGTGGATG | |
11 | g.5226956A= | CA1949570529 | HBB | c.66T= (p.Asp22=) n.117T= | |
11 | g.5226956A>C | CA217115267 | HBB | c.66T>G (p.Asp22Glu) n.117T>G | dbSNP |
11 | g.5226956A>G | CA472885850 | HBB | c.66T>C (p.Asp22=) n.117T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5226956A>T | CA379274820 | HBB | c.66T>A (p.Asp22Glu) n.117T>A | gnomAD v4 |
11 | g.5226956_5226969del | CA934688341 | HBB | c.53_66del (p.Lys18ArgfsTer5) n.104_117del c.53_66del (p.Lys18ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5226957T>A | CA217115275 | HBB | c.65A>T (p.Asp22Val) n.116A>T | ClinVar dbSNP |
11 | g.5226957T>C | CA124805 | HBB | c.65A>G (p.Asp22Gly) n.116A>G | ClinVar dbSNP |
11 | g.5226957T>G | CA379274824 | HBB | c.65A>C (p.Asp22Ala) n.116A>C | |
11 | g.5226957T= | CA1949570537 | HBB | c.65A= (p.Asp22=) n.116A= | |
11 | g.5226957dup | CA912972638 | HBB | c.65dup (p.Asp22GlufsTer2) n.116dup | |
11 | g.5226958C>A | CA125253 | HBB | c.64G>T (p.Asp22Tyr) n.115G>T | ClinVar dbSNP |
11 | g.5226958C= | CA1949570557 | HBB | c.64G= (p.Asp22=) n.115G= | |
11 | g.5226958C>G | CA125385 | HBB | c.64G>C (p.Asp22His) n.115G>C | ClinVar dbSNP gnomAD v4 |
11 | g.5226958C>T | CA124801 | HBB | c.64G>A (p.Asp22Asn) n.115G>A | ClinVar dbSNP |
11 | g.5226959dup | CA658822513 | HBB | c.64dup (p.Asp22GlyfsTer2) n.115dup | ClinVar dbSNP |
11 | g.5226959C>A | CA472885851 | HBB | c.63G>T (p.Val21=) n.114G>T | dbSNP |
11 | g.5226959C= | CA1949570567 | HBB | c.63G= (p.Val21=) n.114G= |