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.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC | CA1949570429 | HBB | c.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT | |
11 | g.5226948_5227485del | CA916083211 | HBB | c.-19+27_74del | 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.5226995_5227524del | CA2739276176 | HBB | c.-29_29del | |
11 | g.5226993_5227525delinsGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGAT | CA1949570927 | HBB | c.-32_29delinsATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTC | |
11 | g.5226994_5227525del | CA916083221 | HBB | c.-32_28del | ClinVar dbSNP |
11 | g.5227072A= | CA1949571475 | HBB | c.-51T= (n.-51T=) c.-18-33T= (n.-18-33T=) n.1T= | |
11 | g.5227072A>C | CA2579829103 | HBB | c.-51T>G (n.-51T>G) c.-18-33T>G (n.-18-33T>G) n.1T>G | |
11 | g.5227072A>G | CA342846 | HBB | c.-51T>C (n.-51T>C) c.-18-33T>C (n.-18-33T>C) n.1T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5227072A>T | CA2579829104 | HBB | c.-51T>A (n.-51T>A) c.-18-33T>A (n.-18-33T>A) n.1T>A | |
11 | g.5227073A= | CA2579829105 | HBB | c.-52T= (n.-52T=) c.-18-34T= (n.-18-34T=) | |
11 | g.5227073A>C | CA2579829106 | HBB | c.-52T>G (n.-52T>G) c.-18-34T>G (n.-18-34T>G) | |
11 | g.5227073A>G | CA2579829107 | HBB | c.-52T>C (n.-52T>C) c.-18-34T>C (n.-18-34T>C) | |
11 | g.5227073A>T | CA2579829108 | HBB | c.-52T>A (n.-52T>A) c.-18-34T>A (n.-18-34T>A) | |
11 | g.5227074G>A | CA2579829111 | HBB | c.-53C>T (n.-53C>T) c.-18-35C>T (n.-18-35C>T) | |
11 | g.5227074G>C | CA2579829112 | HBB | c.-53C>G (n.-53C>G) c.-18-35C>G (n.-18-35C>G) | |
11 | g.5227074G= | CA2579829110 | HBB | c.-53C= (n.-53C=) c.-18-35C= (n.-18-35C=) | |
11 | g.5227074G>T | CA2574735710 | HBB | c.-53C>A (n.-53C>A) c.-18-35C>A (n.-18-35C>A) | gnomAD v4 |
11 | g.5227075C>A | CA2579829113 | HBB | c.-54G>T (n.-54G>T) c.-18-36G>T (n.-18-36G>T) | gnomAD v4 |
11 | g.5227075C= | CA1949571481 | HBB | c.-54G= (n.-54G=) c.-18-36G= (n.-18-36G=) | |
11 | g.5227075C>G | CA1949571482 | HBB | c.-54G>C (n.-54G>C) c.-18-36G>C (n.-18-36G>C) | dbSNP |
11 | g.5227075C>T | CA2579829114 | HBB | c.-54G>A (n.-54G>A) c.-18-36G>A (n.-18-36G>A) | gnomAD v4 |
11 | g.5227076A>C | CA2579829115 | HBB | c.-55T>G (n.-55T>G) c.-18-37T>G (n.-18-37T>G) | gnomAD v4 |
11 | g.5227076A>G | CA2579829116 | HBB | c.-55T>C (n.-55T>C) c.-18-37T>C (n.-18-37T>C) | gnomAD v4 |
11 | g.5227076A>T | CA2579829117 | HBB | c.-55T>A (n.-55T>A) c.-18-37T>A (n.-18-37T>A) | |
11 | g.5227077A= | CA1949571483 | HBB | c.-56T= (n.-56T=) c.-18-38T= (n.-18-38T=) | |
11 | g.5227077A>C | CA2579829118 | HBB | c.-56T>G (n.-56T>G) c.-18-38T>G (n.-18-38T>G) | |
11 | g.5227077A>G | CA677538122 | HBB | c.-56T>C (n.-56T>C) c.-18-38T>C (n.-18-38T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5227077A>T | CA2579829120 | HBB | c.-56T>A (n.-56T>A) c.-18-38T>A (n.-18-38T>A) | |
11 | g.5227078T>A | CA2579829119 | HBB | c.-57A>T (n.-57A>T) c.-18-39A>T (n.-18-39A>T) | |
11 | g.5227078T>C | CA677538137 | HBB | c.-57A>G (n.-57A>G) c.-18-39A>G (n.-18-39A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5227078T>G | CA2579829121 | HBB | c.-57A>C (n.-57A>C) c.-18-39A>C (n.-18-39A>C) | |
11 | g.5227078T= | CA1949571487 | HBB | c.-57A= (n.-57A=) c.-18-39A= (n.-18-39A=) | |
11 | g.5227079A>C | CA2579829122 | HBB | c.-58T>G (n.-58T>G) c.-18-40T>G (n.-18-40T>G) | |
11 | g.5227079A>G | CA2579829123 | HBB | c.-58T>C (n.-58T>C) c.-18-40T>C (n.-18-40T>C) | |
11 | g.5227079A>T | CA2579829124 | HBB | c.-58T>A (n.-58T>A) c.-18-40T>A (n.-18-40T>A) | |
11 | g.5227080G>A | CA2579829126 | HBB | c.-59C>T (n.-59C>T) c.-18-41C>T (n.-18-41C>T) | gnomAD v4 |