| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49061750C>A | CA406806770 | NTF4 | c.248G>T (p.Ser83Ile) c.243+5G>T (n.243+5G>T) c.278G>T (p.Ser93Ile) n.293G>T | |
| 19 | g.49061750C= | CA2340217418 | NTF4 | c.248G= (p.Ser83=) c.243+5G= (n.243+5G=) c.278G= (p.Ser93=) n.293G= | |
| 19 | g.49061750C>G | CA309446916 | NTF4 | c.248G>C (p.Ser83Thr) c.243+5G>C (n.243+5G>C) c.278G>C (p.Ser93Thr) n.293G>C | dbSNP gnomAD v4 |
| 19 | g.49061750C>T | CA406806772 | NTF4 | c.248G>A (p.Ser83Asn) c.243+5G>A (n.243+5G>A) c.278G>A (p.Ser93Asn) n.293G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.49061751T>A | CA406806774 | NTF4 | c.247A>T (p.Ser83Cys) c.243+4A>T (n.243+4A>T) c.277A>T (p.Ser93Cys) n.292A>T | |
| 19 | g.49061751T>C | CA406806776 | NTF4 | c.247A>G (p.Ser83Gly) c.243+4A>G (n.243+4A>G) c.277A>G (p.Ser93Gly) n.292A>G | |
| 19 | g.49061751T>G | CA406806778 | NTF4 | c.247A>C (p.Ser83Arg) c.243+4A>C (n.243+4A>C) c.277A>C (p.Ser93Arg) n.292A>C | |
| 19 | g.49061752C>A | CA508279115 | NTF4 | c.246G>T (p.Val82=) c.243+3G>T (n.243+3G>T) c.276G>T (p.Val92=) n.291G>T | dbSNP |
| 19 | g.49061752C= | CA2340217419 | NTF4 | c.246G= (p.Val82=) c.243+3G= (n.243+3G=) c.276G= (p.Val92=) n.291G= | |
| 19 | g.49061752C>G | CA508279116 | NTF4 | c.246G>C (p.Val82=) c.243+3G>C (n.243+3G>C) c.276G>C (p.Val92=) n.291G>C | |
| 19 | g.49061752C>T | CA508279117 | NTF4 | c.246G>A (p.Val82=) c.243+3G>A (n.243+3G>A) c.276G>A (p.Val92=) n.291G>A | dbSNP gnomAD v4 |
| 19 | g.49061753A>C | CA406806780 | NTF4 | c.245T>G (p.Val82Gly) c.243+2T>G (n.243+2T>G) c.275T>G (p.Val92Gly) n.290T>G | |
| 19 | g.49061753A>G | CA406806782 | NTF4 | c.245T>C (p.Val82Ala) c.243+2T>C (n.243+2T>C) c.275T>C (p.Val92Ala) n.290T>C | |
| 19 | g.49061753A>T | CA406806784 | NTF4 | c.245T>A (p.Val82Glu) c.243+2T>A (n.243+2T>A) c.275T>A (p.Val92Glu) n.290T>A | |
| 19 | g.49061754C>A | CA406806788 | NTF4 | c.244G>T (p.Val82Leu) c.243+1G>T (n.243+1G>T) c.274G>T (p.Val92Leu) n.289G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.49061754C= | CA2340217420 | NTF4 | c.244G= (p.Val82=) c.243+1G= (n.243+1G=) c.274G= (p.Val92=) n.289G= | |
| 19 | g.49061754C>G | CA406806790 | NTF4 | c.244G>C (p.Val82Leu) c.243+1G>C (n.243+1G>C) c.274G>C (p.Val92Leu) n.289G>C | |
| 19 | g.49061754C>T | CA406806787 | NTF4 | c.244G>A (p.Val82Met) c.243+1G>A (n.243+1G>A) c.274G>A (p.Val92Met) n.289G>A | dbSNP gnomAD v2 |
| 19 | g.49061755C>A | CA508279121 | NTF4 | c.243G>T (p.Gly81=) c.273G>T (p.Gly91=) n.288G>T | gnomAD v4 |
| 19 | g.49061755C= | CA2340217421 | NTF4 | c.243G= (p.Gly81=) c.273G= (p.Gly91=) n.288G= | |
| 19 | g.49061755C>G | CA508279122 | NTF4 | c.243G>C (p.Gly81=) c.273G>C (p.Gly91=) n.288G>C | |
| 19 | g.49061755C>T | CA9565691 | NTF4 | c.243G>A (p.Gly81=) c.273G>A (p.Gly91=) n.288G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061756C>A | CA9565693 | NTF4 | c.242G>T (p.Gly81Val) c.272G>T (p.Gly91Val) n.287G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061756C= | CA2340217422 | NTF4 | c.242G= (p.Gly81=) c.272G= (p.Gly91=) n.287G= | |
| 19 | g.49061756C>G | CA406806794 | NTF4 | c.242G>C (p.Gly81Ala) c.272G>C (p.Gly91Ala) n.287G>C | |
| 19 | g.49061756C>T | CA9565692 | NTF4 | c.242G>A (p.Gly81Glu) c.272G>A (p.Gly91Glu) n.287G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061757C>A | CA406806801 | NTF4 | c.241G>T (p.Gly81Trp) c.271G>T (p.Gly91Trp) n.286G>T | gnomAD v4 |
| 19 | g.49061757C= | CA2340217423 | NTF4 | c.241G= (p.Gly81=) c.271G= (p.Gly91=) n.286G= | |
| 19 | g.49061757C>G | CA406806800 | NTF4 | c.241G>C (p.Gly81Arg) c.271G>C (p.Gly91Arg) n.286G>C | dbSNP |
| 19 | g.49061757C>T | CA406806798 | NTF4 | c.241G>A (p.Gly81Arg) c.271G>A (p.Gly91Arg) n.286G>A | |
| 19 | g.49061758A>C | CA508279124 | NTF4 | c.240T>G (p.Arg80=) c.270T>G (p.Arg90=) n.285T>G | |
| 19 | g.49061758A>G | CA508279125 | NTF4 | c.240T>C (p.Arg80=) c.270T>C (p.Arg90=) n.285T>C | |
| 19 | g.49061758A>T | CA508279126 | NTF4 | c.240T>A (p.Arg80=) c.270T>A (p.Arg90=) n.285T>A | |
| 19 | g.49061759C>A | CA406806803 | NTF4 | c.239G>T (p.Arg80Leu) c.269G>T (p.Arg90Leu) n.284G>T | gnomAD v4 |
| 19 | g.49061759C= | CA2340217424 | NTF4 | c.239G= (p.Arg80=) c.269G= (p.Arg90=) n.284G= | |
| 19 | g.49061759C>G | CA406806805 | NTF4 | c.239G>C (p.Arg80Pro) c.269G>C (p.Arg90Pro) n.284G>C | |
| 19 | g.49061759C>T | CA406806807 | NTF4 | c.239G>A (p.Arg80His) c.269G>A (p.Arg90His) n.284G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061760G>A | CA9565694 | NTF4 | c.238C>T (p.Arg80Cys) c.268C>T (p.Arg90Cys) n.283C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061760G>C | CA406806810 | NTF4 | c.238C>G (p.Arg80Gly) c.268C>G (p.Arg90Gly) n.283C>G | |
| 19 | g.49061760G= | CA2340217425 | NTF4 | c.238C= (p.Arg80=) c.268C= (p.Arg90=) n.283C= | |
| 19 | g.49061760G>T | CA406806812 | NTF4 | c.238C>A (p.Arg80Ser) c.268C>A (p.Arg90Ser) n.283C>A | |
| 19 | g.49061761C>A | CA508279129 | NTF4 | c.237G>T (p.Arg79=) c.267G>T (p.Arg89=) n.282G>T | |
| 19 | g.49061761C>G | CA508279130 | NTF4 | c.237G>C (p.Arg79=) c.267G>C (p.Arg89=) n.282G>C | |
| 19 | g.49061761C>T | CA508279131 | NTF4 | c.237G>A (p.Arg79=) c.267G>A (p.Arg89=) n.282G>A | gnomAD v4 |
| 19 | g.49061763_49061784dup | CA2586311536 | NTF4 | c.216_237dup (p.Arg80CysfsTer21) c.216_237dup (p.Arg80CysfsTer?) c.246_267dup (p.Arg90CysfsTer21) n.261_282dup | gnomAD v4 |
| 19 | g.49061762C>A | CA406806817 | NTF4 | c.236G>T (p.Arg79Leu) c.266G>T (p.Arg89Leu) n.281G>T | |
| 19 | g.49061762C= | CA2340217426 | NTF4 | c.236G= (p.Arg79=) c.266G= (p.Arg89=) n.281G= | |
| 19 | g.49061762C>G | CA406806815 | NTF4 | c.236G>C (p.Arg79Pro) c.266G>C (p.Arg89Pro) n.281G>C | |
| 19 | g.49061762C>T | CA9565695 | NTF4 | c.236G>A (p.Arg79Gln) c.266G>A (p.Arg89Gln) n.281G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061763G>A | CA406806819 | NTF4 | c.235C>T (p.Arg79Trp) c.265C>T (p.Arg89Trp) n.280C>T | dbSNP gnomAD v2 gnomAD v4 |