| 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.5227159dup | CA2612162396 | HBB | c.-136dup (n.-136dup) c.-18-118dup (n.-18-118dup) | gnomAD v4 |
| 11 | g.5227159G>A | CA125320 | HBB | c.-138C>T (n.-138C>T) c.-18-120C>T (n.-18-120C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227159G>C | CA217115853 | HBB | c.-138C>G (n.-138C>G) c.-18-120C>G (n.-18-120C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227159G= | CA1949571778 | HBB | c.-138C= (n.-138C=) c.-18-120C= (n.-18-120C=) | |
| 11 | g.5227159G>T | CA16609387 | HBB | c.-138C>A (n.-138C>A) c.-18-120C>A (n.-18-120C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227162_5227163del | CA2739291426 | HBB | c.-139_-138del (n.-139_-138del) c.-18-121_-18-120del (n.-18-121_-18-120del) | |
| 11 | g.5227160T>A | CA2579829324 | HBB | c.-139A>T (n.-139A>T) c.-18-121A>T (n.-18-121A>T) | |
| 11 | g.5227160T>C | CA2579829325 | HBB | c.-139A>G (n.-139A>G) c.-18-121A>G (n.-18-121A>G) | |
| 11 | g.5227160T>G | CA2579829326 | HBB | c.-139A>C (n.-139A>C) c.-18-121A>C (n.-18-121A>C) | |
| 11 | g.5227161G>A | CA125377 | HBB | c.-140C>T (n.-140C>T) c.-18-122C>T (n.-18-122C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227161G>C | CA658683682 | HBB | c.-140C>G (n.-140C>G) c.-18-122C>G (n.-18-122C>G) | ClinVar dbSNP |
| 11 | g.5227161G= | CA1949571787 | HBB | c.-140C= (n.-140C=) c.-18-122C= (n.-18-122C=) | |
| 11 | g.5227161G>T | CA2579829328 | HBB | c.-140C>A (n.-140C>A) c.-18-122C>A (n.-18-122C>A) | |
| 11 | g.5227162T>A | CA2579829329 | HBB | c.-141A>T (n.-141A>T) c.-18-123A>T (n.-18-123A>T) | |
| 11 | g.5227162T>C | CA2579829330 | HBB | c.-141A>G (n.-141A>G) c.-18-123A>G (n.-18-123A>G) | |
| 11 | g.5227162T>G | CA217115863 | HBB | c.-141A>C (n.-141A>C) c.-18-123A>C (n.-18-123A>C) | dbSNP |
| 11 | g.5227162T= | CA1949571794 | HBB | c.-141A= (n.-141A=) c.-18-123A= (n.-18-123A=) | |
| 11 | g.5227163G>A | CA125322 | HBB | c.-142C>T (n.-142C>T) c.-18-124C>T (n.-18-124C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227163G>C | CA2579829331 | HBB | c.-142C>G (n.-142C>G) c.-18-124C>G (n.-18-124C>G) | |
| 11 | g.5227163G= | CA1949571798 | HBB | c.-142C= (n.-142C=) c.-18-124C= (n.-18-124C=) | |
| 11 | g.5227163G>T | CA2579829332 | HBB | c.-142C>A (n.-142C>A) c.-18-124C>A (n.-18-124C>A) | gnomAD v4 |
| 11 | g.5227164G>A | CA934688345 | HBB | c.-143C>T (n.-143C>T) c.-18-125C>T (n.-18-125C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227164G>C | CA217115867 | HBB | c.-143C>G (n.-143C>G) c.-18-125C>G (n.-18-125C>G) | dbSNP |
| 11 | g.5227164G= | CA1949571800 | HBB | c.-143C= (n.-143C=) c.-18-125C= (n.-18-125C=) | |
| 11 | g.5227164G>T | CA2579829333 | HBB | c.-143C>A (n.-143C>A) c.-18-125C>A (n.-18-125C>A) | |
| 11 | g.5227165C>A | CA2579829335 | HBB | c.-144G>T (n.-144G>T) c.-18-126G>T (n.-18-126G>T) | gnomAD v4 |
| 11 | g.5227165C= | CA2579829334 | HBB | c.-144G= (n.-144G=) c.-18-126G= (n.-18-126G=) | |
| 11 | g.5227165C>G | CA2579829336 | HBB | c.-144G>C (n.-144G>C) c.-18-126G>C (n.-18-126G>C) | |
| 11 | g.5227165C>T | CA2579829338 | HBB | c.-144G>A (n.-144G>A) c.-18-126G>A (n.-18-126G>A) | gnomAD v4 |
| 11 | g.5227166T>A | CA2579829339 | HBB | c.-145A>T (n.-145A>T) c.-18-127A>T (n.-18-127A>T) |