| 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.5226995_5227524del | CA2739276176 | HBB | c.-29_29del | ClinVar |
| 11 | g.5226993_5227525delinsGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGAT | CA1949570927 | HBB | c.-32_29delinsATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTC | |
| 11 | g.5226994_5227525del | CA916083221 | HBB | c.-32_28del | ClinVar dbSNP |
| 11 | g.5227130_5227256delinsCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCT | CA1949571694 | HBB | c.-18-217_-18-91delinsAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAG (n.-18-217_-18-91delinsAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAG) | |
| 11 | g.5227134_5227258del | CA2695213085 | HBB | c.-18-215_-18-91del (n.-18-215_-18-91del) | |
| 11 | g.5227131_5227256del | CA916083232 | HBB | c.-18-217_-18-92del (n.-18-217_-18-92del) | ClinVar dbSNP |
| 11 | g.5227172G>A | CA125321 | HBB | c.-151C>T (n.-151C>T) c.-18-133C>T (n.-18-133C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227172G>C | CA934688346 | HBB | c.-151C>G (n.-151C>G) c.-18-133C>G (n.-18-133C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227172G= | CA1949571824 | HBB | c.-151C= (n.-151C=) c.-18-133C= (n.-18-133C=) | |
| 11 | g.5227172G>T | CA2579829355 | HBB | c.-151C>A (n.-151C>A) c.-18-133C>A (n.-18-133C>A) | gnomAD v4 |
| 11 | g.5227173G>A | CA2579829358 | HBB | c.-152C>T (n.-152C>T) c.-18-134C>T (n.-18-134C>T) | |
| 11 | g.5227173G>C | CA2579829359 | HBB | c.-152C>G (n.-152C>G) c.-18-134C>G (n.-18-134C>G) | |
| 11 | g.5227173G= | CA2579829357 | HBB | c.-152C= (n.-152C=) c.-18-134C= (n.-18-134C=) | |
| 11 | g.5227173G>T | CA2579829360 | HBB | c.-152C>A (n.-152C>A) c.-18-134C>A (n.-18-134C>A) | ClinVar |
| 11 | g.5227174G>A | CA677538356 | HBB | c.-153C>T (n.-153C>T) c.-18-135C>T (n.-18-135C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227174G>C | CA2579829361 | HBB | c.-153C>G (n.-153C>G) c.-18-135C>G (n.-18-135C>G) | |
| 11 | g.5227174G= | CA1949571826 | HBB | c.-153C= (n.-153C=) c.-18-135C= (n.-18-135C=) | |
| 11 | g.5227174G>T | CA2579829362 | HBB | c.-153C>A (n.-153C>A) c.-18-135C>A (n.-18-135C>A) | gnomAD v4 |
| 11 | g.5227175T>A | CA2579829364 | HBB | c.-154A>T (n.-154A>T) c.-18-136A>T (n.-18-136A>T) | |
| 11 | g.5227175T>C | CA2579829363 | HBB | c.-154A>G (n.-154A>G) c.-18-136A>G (n.-18-136A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227175T>G | CA1949571829 | HBB | c.-154A>C (n.-154A>C) c.-18-136A>C (n.-18-136A>C) | dbSNP |
| 11 | g.5227175T= | CA1949571828 | HBB | c.-154A= (n.-154A=) c.-18-136A= (n.-18-136A=) | |
| 11 | g.5227176G>A | CA934688347 | HBB | c.-155C>T (n.-155C>T) c.-18-137C>T (n.-18-137C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227176G>C | CA2579829366 | HBB | c.-155C>G (n.-155C>G) c.-18-137C>G (n.-18-137C>G) | |
| 11 | g.5227176G= | CA1949571832 | HBB | c.-155C= (n.-155C=) c.-18-137C= (n.-18-137C=) | |
| 11 | g.5227176G>T | CA2501618948 | HBB | c.-155C>A (n.-155C>A) c.-18-137C>A (n.-18-137C>A) | gnomAD v4 |
| 11 | g.5227177A= | CA1949571834 | HBB | c.-156T= (n.-156T=) c.-18-138T= (n.-18-138T=) | |
| 11 | g.5227177A>C | CA2579829367 | HBB | c.-156T>G (n.-156T>G) c.-18-138T>G (n.-18-138T>G) | |
| 11 | g.5227177A>G | CA934688348 | HBB | c.-156T>C (n.-156T>C) c.-18-138T>C (n.-18-138T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227177A>T | CA2579829368 | HBB | c.-156T>A (n.-156T>A) c.-18-138T>A (n.-18-138T>A) | |
| 11 | g.5227178G>A | CA2579829371 | HBB | c.-157C>T (n.-157C>T) c.-18-139C>T (n.-18-139C>T) | |
| 11 | g.5227178G>C | CA2579829370 | HBB | c.-157C>G (n.-157C>G) c.-18-139C>G (n.-18-139C>G) | |
| 11 | g.5227178G= | CA2579829369 | HBB | c.-157C= (n.-157C=) c.-18-139C= (n.-18-139C=) | |
| 11 | g.5227178G>T | CA2579829373 | HBB | c.-157C>A (n.-157C>A) c.-18-139C>A (n.-18-139C>A) | |
| 11 | g.5227179G>A | CA217115873 | HBB | c.-158C>T (n.-158C>T) c.-18-140C>T (n.-18-140C>T) | dbSNP gnomAD v4 |
| 11 | g.5227179G>C | CA2579829374 | HBB | c.-158C>G (n.-158C>G) c.-18-140C>G (n.-18-140C>G) |