Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43928664_43928709del | CA1026100217 | PNPLA3 | c.421-160_421-115del (n.421-160_421-115del) c.*53-160_*53-115del (n.*53-160_*53-115del) c.409-160_409-115del (n.409-160_409-115del) n.455-160_455-115del | gnomAD v3 gnomAD v4 |
22 | g.43928686_43928708dup | CA1026100240 | PNPLA3 | c.421-138_421-116dup (n.421-138_421-116dup) c.*53-138_*53-116dup (n.*53-138_*53-116dup) c.409-138_409-116dup (n.409-138_409-116dup) n.455-138_455-116dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43928695_43928698del | CA2657156622 | PNPLA3 | c.421-129_421-126del (n.421-129_421-126del) c.*53-129_*53-126del (n.*53-129_*53-126del) c.409-129_409-126del (n.409-129_409-126del) n.455-129_455-126del | gnomAD v4 |
22 | g.43928696A= | CA2407481384 | PNPLA3 | c.421-128A= (n.421-128A=) c.*53-128A= (n.*53-128A=) c.409-128A= (n.409-128A=) n.455-128A= | |
22 | g.43928696A>C | CA2657156625 | PNPLA3 | c.421-128A>C (n.421-128A>C) c.*53-128A>C (n.*53-128A>C) c.409-128A>C (n.409-128A>C) n.455-128A>C | gnomAD v4 |
22 | g.43928696A>G | CA1026100246 | PNPLA3 | c.421-128A>G (n.421-128A>G) c.*53-128A>G (n.*53-128A>G) c.409-128A>G (n.409-128A>G) n.455-128A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43928697T>A | CA2657156626 | PNPLA3 | c.421-127T>A (n.421-127T>A) c.*53-127T>A (n.*53-127T>A) c.409-127T>A (n.409-127T>A) n.455-127T>A | gnomAD v4 |
22 | g.43928698T>C | CA2657156628 | PNPLA3 | c.421-126T>C (n.421-126T>C) c.*53-126T>C (n.*53-126T>C) c.409-126T>C (n.409-126T>C) n.455-126T>C | gnomAD v4 |
22 | g.43928698_43928699del | CA2657156627 | PNPLA3 | c.421-126_421-125del (n.421-126_421-125del) c.*53-126_*53-125del (n.*53-126_*53-125del) c.409-126_409-125del (n.409-126_409-125del) n.455-126_455-125del | gnomAD v4 |
22 | g.43928699A>T | CA2657156629 | PNPLA3 | c.421-125A>T (n.421-125A>T) c.*53-125A>T (n.*53-125A>T) c.409-125A>T (n.409-125A>T) n.455-125A>T | gnomAD v4 |
22 | g.43928700_43928701insGT | CA2657156630 | PNPLA3 | c.421-124_421-123insGT (n.421-124_421-123insGT) c.*53-124_*53-123insGT (n.*53-124_*53-123insGT) c.409-124_409-123insGT (n.409-124_409-123insGT) n.455-124_455-123insGT | gnomAD v4 |
22 | g.43928701C>A | CA2407481386 | PNPLA3 | c.421-123C>A (n.421-123C>A) c.*53-123C>A (n.*53-123C>A) c.409-123C>A (n.409-123C>A) n.455-123C>A | dbSNP gnomAD v4 |
22 | g.43928701C= | CA2407481385 | PNPLA3 | c.421-123C= (n.421-123C=) c.*53-123C= (n.*53-123C=) c.409-123C= (n.409-123C=) n.455-123C= | |
22 | g.43928701C>G | CA2657156631 | PNPLA3 | c.421-123C>G (n.421-123C>G) c.*53-123C>G (n.*53-123C>G) c.409-123C>G (n.409-123C>G) n.455-123C>G | gnomAD v4 |
22 | g.43928702C>A | CA2657156632 | PNPLA3 | c.421-122C>A (n.421-122C>A) c.*53-122C>A (n.*53-122C>A) c.409-122C>A (n.409-122C>A) n.455-122C>A | gnomAD v4 |
22 | g.43928702C>T | CA2657156633 | PNPLA3 | c.421-122C>T (n.421-122C>T) c.*53-122C>T (n.*53-122C>T) c.409-122C>T (n.409-122C>T) n.455-122C>T | gnomAD v4 |
22 | g.43928704A>C | CA1026100249 | PNPLA3 | c.421-120A>C (n.421-120A>C) c.*53-120A>C (n.*53-120A>C) c.409-120A>C (n.409-120A>C) n.455-120A>C | gnomAD v3 gnomAD v4 |
22 | g.43928704A>T | CA1026100256 | PNPLA3 | c.421-120A>T (n.421-120A>T) c.*53-120A>T (n.*53-120A>T) c.409-120A>T (n.409-120A>T) n.455-120A>T | gnomAD v3 gnomAD v4 |
22 | g.43928704_43928705insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA | CA1139638855 | PNPLA3 | c.421-120_421-119insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA (n.421-120_421-119insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA) c.*53-120_*53-119insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA (n.*53-120_*53-119insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA) c.409-120_409-119insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA (n.409-120_409-119insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA) n.455-120_455-119insGTGCAAAGGGCATTTTCTTGGTGAGTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA | |
22 | g.43928704_43928709del | CA2657156634 | PNPLA3 | c.421-120_421-115del (n.421-120_421-115del) c.*53-120_*53-115del (n.*53-120_*53-115del) c.409-120_409-115del (n.409-120_409-115del) n.455-120_455-115del | gnomAD v4 |
22 | g.43928705C>A | CA2657156635 | PNPLA3 | c.421-119C>A (n.421-119C>A) c.*53-119C>A (n.*53-119C>A) c.409-119C>A (n.409-119C>A) n.455-119C>A | gnomAD v4 |
22 | g.43928705C>T | CA2657156636 | PNPLA3 | c.421-119C>T (n.421-119C>T) c.*53-119C>T (n.*53-119C>T) c.409-119C>T (n.409-119C>T) n.455-119C>T | gnomAD v4 |
22 | g.43928706T>A | CA2657156637 | PNPLA3 | c.421-118T>A (n.421-118T>A) c.*53-118T>A (n.*53-118T>A) c.409-118T>A (n.409-118T>A) n.455-118T>A | gnomAD v4 |
22 | g.43928706T>C | CA2657156638 | PNPLA3 | c.421-118T>C (n.421-118T>C) c.*53-118T>C (n.*53-118T>C) c.409-118T>C (n.409-118T>C) n.455-118T>C | gnomAD v4 |
22 | g.43928707C>A | CA2657156639 | PNPLA3 | c.421-117C>A (n.421-117C>A) c.*53-117C>A (n.*53-117C>A) c.409-117C>A (n.409-117C>A) n.455-117C>A | gnomAD v4 |
22 | g.43928708T>C | CA1026100275 | PNPLA3 | c.421-116T>C (n.421-116T>C) c.*53-116T>C (n.*53-116T>C) c.409-116T>C (n.409-116T>C) n.455-116T>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43928709G>A | CA2657156640 | PNPLA3 | c.421-115G>A (n.421-115G>A) c.*53-115G>A (n.*53-115G>A) c.409-115G>A (n.409-115G>A) n.455-115G>A | gnomAD v4 |
22 | g.43928709G= | CA2407481387 | PNPLA3 | c.421-115G= (n.421-115G=) c.*53-115G= (n.*53-115G=) c.409-115G= (n.409-115G=) n.455-115G= | |
22 | g.43928709G>T | CA324876693 | PNPLA3 | c.421-115G>T (n.421-115G>T) c.*53-115G>T (n.*53-115G>T) c.409-115G>T (n.409-115G>T) n.455-115G>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43928709_43928710insGTGTTTTGGACATGAAGTCCT | CA324876697 | PNPLA3 | c.421-115_421-114insGTGTTTTGGACATGAAGTCCT (n.421-115_421-114insGTGTTTTGGACATGAAGTCCT) c.*53-115_*53-114insGTGTTTTGGACATGAAGTCCT (n.*53-115_*53-114insGTGTTTTGGACATGAAGTCCT) c.409-115_409-114insGTGTTTTGGACATGAAGTCCT (n.409-115_409-114insGTGTTTTGGACATGAAGTCCT) n.455-115_455-114insGTGTTTTGGACATGAAGTCCT | dbSNP |
22 | g.43928710_43928711insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT | CA1139597529 | PNPLA3 | c.421-114_421-113insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT (n.421-114_421-113insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT) c.*53-114_*53-113insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT (n.*53-114_*53-113insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT) c.409-114_409-113insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT (n.409-114_409-113insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT) n.455-114_455-113insCAAGGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTATTTATACTCTAAGTTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCCTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCT | |
22 | g.43928711G>A | CA2657156641 | PNPLA3 | c.421-113G>A (n.421-113G>A) c.*53-113G>A (n.*53-113G>A) c.409-113G>A (n.409-113G>A) n.455-113G>A | gnomAD v4 |
22 | g.43928712C>A | CA2657156642 | PNPLA3 | c.421-112C>A (n.421-112C>A) c.*53-112C>A (n.*53-112C>A) c.409-112C>A (n.409-112C>A) n.455-112C>A | gnomAD v4 |
22 | g.43928712C>T | CA2657156643 | PNPLA3 | c.421-112C>T (n.421-112C>T) c.*53-112C>T (n.*53-112C>T) c.409-112C>T (n.409-112C>T) n.455-112C>T | gnomAD v4 |
22 | g.43928713A= | CA2407481388 | PNPLA3 | c.421-111A= (n.421-111A=) c.*53-111A= (n.*53-111A=) c.409-111A= (n.409-111A=) n.455-111A= | |
22 | g.43928713A>C | CA2657156644 | PNPLA3 | c.421-111A>C (n.421-111A>C) c.*53-111A>C (n.*53-111A>C) c.409-111A>C (n.409-111A>C) n.455-111A>C | gnomAD v4 |
22 | g.43928713A>G | CA2407481389 | PNPLA3 | c.421-111A>G (n.421-111A>G) c.*53-111A>G (n.*53-111A>G) c.409-111A>G (n.409-111A>G) n.455-111A>G | dbSNP gnomAD v4 |
22 | g.43928716G>A | CA2657156645 | PNPLA3 | c.421-108G>A (n.421-108G>A) c.*53-108G>A (n.*53-108G>A) c.409-108G>A (n.409-108G>A) n.455-108G>A | gnomAD v4 |
22 | g.43928716G>C | CA2657156647 | PNPLA3 | c.421-108G>C (n.421-108G>C) c.*53-108G>C (n.*53-108G>C) c.409-108G>C (n.409-108G>C) n.455-108G>C | gnomAD v4 |
22 | g.43928716G>T | CA2657156646 | PNPLA3 | c.421-108G>T (n.421-108G>T) c.*53-108G>T (n.*53-108G>T) c.409-108G>T (n.409-108G>T) n.455-108G>T | gnomAD v4 |
22 | g.43928717G>T | CA2657156648 | PNPLA3 | c.421-107G>T (n.421-107G>T) c.*53-107G>T (n.*53-107G>T) c.409-107G>T (n.409-107G>T) n.455-107G>T | gnomAD v4 |
22 | g.43928718G>A | CA2657156649 | PNPLA3 | c.421-106G>A (n.421-106G>A) c.*53-106G>A (n.*53-106G>A) c.409-106G>A (n.409-106G>A) n.455-106G>A | gnomAD v4 |
22 | g.43928719C= | CA2407481390 | PNPLA3 | c.421-105C= (n.421-105C=) c.*53-105C= (n.*53-105C=) c.409-105C= (n.409-105C=) n.455-105C= | |
22 | g.43928719C>T | CA2407481391 | PNPLA3 | c.421-105C>T (n.421-105C>T) c.*53-105C>T (n.*53-105C>T) c.409-105C>T (n.409-105C>T) n.455-105C>T | dbSNP gnomAD v4 |
22 | g.43928719_43928720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG | CA1026100279 | PNPLA3 | c.421-105_421-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG (n.421-105_421-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG) c.*53-105_*53-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG (n.*53-105_*53-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG) c.409-105_409-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG (n.409-105_409-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG) n.455-105_455-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG | gnomAD v3 gnomAD v4 |
22 | g.43928720A>T | CA1026100280 | PNPLA3 | c.421-104A>T (n.421-104A>T) c.*53-104A>T (n.*53-104A>T) c.409-104A>T (n.409-104A>T) n.455-104A>T | gnomAD v3 gnomAD v4 |
22 | g.43928721T>A | CA2657156651 | PNPLA3 | c.421-103T>A (n.421-103T>A) c.*53-103T>A (n.*53-103T>A) c.409-103T>A (n.409-103T>A) n.455-103T>A | gnomAD v4 |
22 | g.43928721T>C | CA2407481393 | PNPLA3 | c.421-103T>C (n.421-103T>C) c.*53-103T>C (n.*53-103T>C) c.409-103T>C (n.409-103T>C) n.455-103T>C | dbSNP gnomAD v4 |
22 | g.43928721T>G | CA2657156652 | PNPLA3 | c.421-103T>G (n.421-103T>G) c.*53-103T>G (n.*53-103T>G) c.409-103T>G (n.409-103T>G) n.455-103T>G | gnomAD v4 |
22 | g.43928721T= | CA2407481392 | PNPLA3 | c.421-103T= (n.421-103T=) c.*53-103T= (n.*53-103T=) c.409-103T= (n.409-103T=) n.455-103T= |