Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.6877713_6877714del | CA2579088531 | DEFB1 | c.61+85_61+86del (n.61+85_61+86del) | gnomAD v4 |
8 | g.6877713A>G | CA2686023105 | DEFB1 | c.61+84T>C (n.61+84T>C) | gnomAD v4 |
8 | g.6877714C>A | CA2579088532 | DEFB1 | c.61+83G>T (n.61+83G>T) | gnomAD v4 |
8 | g.6877714C= | CA1761188527 | DEFB1 | c.61+83G= (n.61+83G=) | |
8 | g.6877714C>G | CA2579088533 | DEFB1 | c.61+83G>C (n.61+83G>C) | gnomAD v4 |
8 | g.6877714C>T | CA171486004 | DEFB1 | c.61+83G>A (n.61+83G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877715G>A | CA854608890 | DEFB1 | c.61+82C>T (n.61+82C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877715G= | CA1761188528 | DEFB1 | c.61+82C= (n.61+82C=) | |
8 | g.6877715G>T | CA2579088534 | DEFB1 | c.61+82C>A (n.61+82C>A) | gnomAD v4 |
8 | g.6877716G>A | CA171486016 | DEFB1 | c.61+81C>T (n.61+81C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877716G= | CA1761188529 | DEFB1 | c.61+81C= (n.61+81C=) | |
8 | g.6877717A>G | CA2504286977 | DEFB1 | c.61+80T>C (n.61+80T>C) | gnomAD v4 |
8 | g.6877718G>A | CA1761188531 | DEFB1 | c.61+79C>T (n.61+79C>T) | dbSNP gnomAD v4 |
8 | g.6877718G= | CA1761188530 | DEFB1 | c.61+79C= (n.61+79C=) | |
8 | g.6877718G>T | CA2686023107 | DEFB1 | c.61+79C>A (n.61+79C>A) | gnomAD v4 |
8 | g.6877719del | CA2686023106 | DEFB1 | c.61+79del (n.61+79del) | gnomAD v4 |
8 | g.6877719G>A | CA2686023108 | DEFB1 | c.61+78C>T (n.61+78C>T) | gnomAD v4 |
8 | g.6877719G>T | CA2579088535 | DEFB1 | c.61+78C>A (n.61+78C>A) | gnomAD v4 |
8 | g.6877720C>A | CA579664739 | DEFB1 | c.61+77G>T (n.61+77G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877720C= | CA1761188532 | DEFB1 | c.61+77G= (n.61+77G=) | |
8 | g.6877720C>T | CA1110233934 | DEFB1 | c.61+77G>A (n.61+77G>A) | dbSNP gnomAD v4 |
8 | g.6877721A>G | CA2579088536 | DEFB1 | c.61+76T>C (n.61+76T>C) | |
8 | g.6877721A>T | CA2579088537 | DEFB1 | c.61+76T>A (n.61+76T>A) | |
8 | g.6877722G>A | CA854608899 | DEFB1 | c.61+75C>T (n.61+75C>T) | dbSNP |
8 | g.6877722G= | CA1761188533 | DEFB1 | c.61+75C= (n.61+75C=) | |
8 | g.6877722G>T | CA2686023109 | DEFB1 | c.61+75C>A (n.61+75C>A) | gnomAD v4 |
8 | g.6877723C>A | CA2686023110 | DEFB1 | c.61+74G>T (n.61+74G>T) | gnomAD v4 |
8 | g.6877723C= | CA1761188534 | DEFB1 | c.61+74G= (n.61+74G=) | |
8 | g.6877723C>T | CA854608910 | DEFB1 | c.61+74G>A (n.61+74G>A) | dbSNP gnomAD v4 |
8 | g.6877724C>A | CA2506521560 | DEFB1 | c.61+73G>T (n.61+73G>T) | gnomAD v4 |
8 | g.6877724C= | CA1761188535 | DEFB1 | c.61+73G= (n.61+73G=) | |
8 | g.6877724C>G | CA2571632061 | DEFB1 | c.61+73G>C (n.61+73G>C) | |
8 | g.6877724C>T | CA1761188536 | DEFB1 | c.61+73G>A (n.61+73G>A) | dbSNP gnomAD v4 |
8 | g.6877725A>C | CA2686023111 | DEFB1 | c.61+72T>G (n.61+72T>G) | gnomAD v4 |
8 | g.6877726T>C | CA2778897131 | DEFB1 | c.61+71A>G (n.61+71A>G) | |
8 | g.6877726T>G | CA171486020 | DEFB1 | c.61+71A>C (n.61+71A>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877726T= | CA1761188537 | DEFB1 | c.61+71A= (n.61+71A=) | |
8 | g.6877727C>A | CA2579088538 | DEFB1 | c.61+70G>T (n.61+70G>T) | gnomAD v4 |
8 | g.6877727C= | CA1761188538 | DEFB1 | c.61+70G= (n.61+70G=) | |
8 | g.6877727C>T | CA171486029 | DEFB1 | c.61+70G>A (n.61+70G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877727_6877728insAGCC | CA2686023112 | DEFB1 | c.61+70_61+71insGCTG (n.61+70_61+71insGCTG) | gnomAD v4 |
8 | g.6877728C>A | CA2686023113 | DEFB1 | c.61+69G>T (n.61+69G>T) | gnomAD v4 |
8 | g.6877728C= | CA1761188539 | DEFB1 | c.61+69G= (n.61+69G=) | |
8 | g.6877728C>G | CA171486036 | DEFB1 | c.61+69G>C (n.61+69G>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877728C>T | CA171486037 | DEFB1 | c.61+69G>A (n.61+69G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877729G>A | CA171486038 | DEFB1 | c.61+68C>T (n.61+68C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877729G>C | CA1761188541 | DEFB1 | c.61+68C>G (n.61+68C>G) | dbSNP gnomAD v4 |
8 | g.6877729G= | CA1761188540 | DEFB1 | c.61+68C= (n.61+68C=) | |
8 | g.6877729G>T | CA1761188542 | DEFB1 | c.61+68C>A (n.61+68C>A) | dbSNP gnomAD v4 |
8 | g.6877730A>G | CA2579088539 | DEFB1 | c.61+67T>C (n.61+67T>C) | gnomAD v4 |