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.5226975_5226978del | CA2612162293 | HBB | c.44_47del (p.Leu15ArgfsTer4) n.95_98del | gnomAD v4 |
11 | g.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCT | CA1949570725 | HBB | c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT (p.Glu7=) n.71_97delinsAGGAGAAGTCTGCCGTTACTGCCCTGT | |
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 | |
11 | g.5226981del | CA2695213068 | HBB | c.43del (p.Leu15CysfsTer5) n.94del | |
11 | g.5226980G>A | CA472885863 | HBB | c.42C>T (p.Ala14=) n.93C>T | |
11 | g.5226980G>C | CA472885864 | HBB | c.42C>G (p.Ala14=) n.93C>G | |
11 | g.5226980G>T | CA472885865 | HBB | c.42C>A (p.Ala14=) n.93C>A | |
11 | g.5226985_5226993del | CA2695213069 | HBB | c.34_42del (p.Val12_Ala14del) n.85_93del | |
11 | g.5226981G>A | CA379274902 | HBB | c.41C>T (p.Ala14Val) n.92C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226981G>C | CA379274904 | HBB | c.41C>G (p.Ala14Gly) n.92C>G | dbSNP |
11 | g.5226981G= | CA1949570780 | HBB | c.41C= (p.Ala14=) n.92C= | |
11 | g.5226981G>T | CA124955 | HBB | c.41C>A (p.Ala14Asp) n.92C>A | ClinVar dbSNP COSMIC |
11 | g.5226982C>A | CA5839817 | HBB | c.40G>T (p.Ala14Ser) n.91G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.5226982C= | CA1949570791 | HBB | c.40G= (p.Ala14=) n.91G= | |
11 | g.5226982C>G | CA379274907 | HBB | c.40G>C (p.Ala14Pro) n.91G>C | |
11 | g.5226982C>T | CA379274909 | HBB | c.40G>A (p.Ala14Thr) n.91G>A | ClinVar dbSNP |
11 | g.5226983A= | CA1949570801 | HBB | c.39T= (p.Thr13=) n.90T= | |
11 | g.5226983A>C | CA472885866 | HBB | c.39T>G (p.Thr13=) n.90T>G | |
11 | g.5226983A>G | CA472885867 | HBB | c.39T>C (p.Thr13=) n.90T>C | ClinVar dbSNP |
11 | g.5226983A>T | CA472885868 | HBB | c.39T>A (p.Thr13=) n.90T>A | |
11 | g.5226983_5226984insAG | CA2612162294 | HBB | c.38_39insCT (p.Ala14LeufsTer7) n.89_90insCT | gnomAD v4 |
11 | g.5226984G>A | CA379274915 | HBB | c.38C>T (p.Thr13Ile) n.89C>T | gnomAD v4 |