| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49061285C>A | CA883074725 | NTF4 | c.*80G>T (p.=) n.758G>T n.713G>T (p.=) c.243+470G>T (p.=) | |
| 19 | g.49061290T>C | CA508278597 | NTF4 | c.*75A>G (p.=) n.753A>G n.708A>G (p.=) c.243+465A>G (p.=) | |
| 19 | g.49061292G>C | CA996661755 | NTF4 | c.*73C>G (p.=) n.751C>G n.706C>G (p.=) c.243+463C>G (p.=) | |
| 19 | g.49061306G>A | CA309446274 | NTF4 | c.*59C>T (p.=) n.737C>T n.692C>T (p.=) c.243+449C>T (p.=) | dbSNP |
| 19 | g.49061308T>C | CA883074728 | NTF4 | c.*57A>G (p.=) n.735A>G n.690A>G (p.=) c.243+447A>G (p.=) | |
| 19 | g.49061309G>A | CA996661761 | NTF4 | c.*56C>T (p.=) n.734C>T n.689C>T (p.=) c.243+446C>T (p.=) | |
| 19 | g.49061315T>A | CA9565579 | NTF4 | c.*50A>T (p.=) n.728A>T n.683A>T (p.=) c.243+440A>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061317C>T | CA633889977 | NTF4 | c.*48G>A (p.=) n.726G>A n.681G>A (p.=) c.243+438G>A (p.=) | gnomAD |
| 19 | g.49061320G>A | CA9565580 | NTF4 | c.*45C>T (p.=) n.723C>T n.678C>T (p.=) c.243+435C>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061322G>A | CA883074736 | NTF4 | c.*43C>T (p.=) n.721C>T n.676C>T (p.=) c.243+433C>T (p.=) | |
| 19 | g.49061323G>T | CA883074737 | NTF4 | c.*42C>A (p.=) n.720C>A n.675C>A (p.=) c.243+432C>A (p.=) | |
| 19 | g.49061326T>C | CA883074738 | NTF4 | c.*39A>G (p.=) n.717A>G n.672A>G (p.=) c.243+429A>G (p.=) | |
| 19 | g.49061327C>G | CA633889978 | NTF4 | c.*38G>C (p.=) n.716G>C n.671G>C (p.=) c.243+428G>C (p.=) | gnomAD |
| 19 | g.49061336C>T | CA996661765 | NTF4 | c.*29G>A (p.=) n.707G>A n.662G>A (p.=) c.243+419G>A (p.=) | |
| 19 | g.49061338G>A | CA633889979 | NTF4 | c.*27C>T (p.=) n.705C>T n.660C>T (p.=) c.243+417C>T (p.=) | gnomAD |
| 19 | g.49061339C>T | CA9565581 | NTF4 | c.*26G>A (p.=) n.704G>A n.659G>A (p.=) c.243+416G>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061340T>C | CA9565582 | NTF4 | c.*25A>G (p.=) n.703A>G n.658A>G (p.=) c.243+415A>G (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061343G>A | CA9565583 | NTF4 | c.*22C>T (p.=) n.700C>T n.655C>T (p.=) c.243+412C>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061344T>G | CA9565584 | NTF4 | c.*21A>C (p.=) n.699A>C n.654A>C (p.=) c.243+411A>C (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061350T>C | CA309446312 | NTF4 | c.*15A>G (p.=) n.693A>G n.648A>G (p.=) c.243+405A>G (p.=) | dbSNP |
| 19 | g.49061352C>G | CA9565585 | NTF4 | c.*13G>C (p.=) n.691G>C n.646G>C (p.=) c.243+403G>C (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061356G>A | CA996661770 | NTF4 | c.*9C>T (p.=) n.687C>T n.642C>T (p.=) c.243+399C>T (p.=) | |
| 19 | g.49061356G>T | CA9565586 | NTF4 | c.*9C>A (p.=) n.687C>A n.642C>A (p.=) c.243+399C>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061358A>G | CA9565587 | NTF4 | c.*7T>C (p.=) n.685T>C n.640T>C (p.=) c.243+397T>C (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061362G>A | CA9565588 | NTF4 | c.*3C>T n.681C>T n.636C>T c.243+393C>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061365T>A | CA406804679 | NTF4 | c.633A>T (p.Ter211Cys) c.663A>T (p.Ter221Cys) n.678A>T n.633A>T (p.Ter211Cys) c.243+390A>T (p.=) | |
| 19 | g.49061365T>C | CA406804680 | NTF4 | c.633A>G (p.Ter211Trp) c.663A>G (p.Ter221Trp) n.678A>G n.633A>G (p.Ter211Trp) c.243+390A>G (p.=) | |
| 19 | g.49061365T>G | CA406804682 | NTF4 | c.633A>C (p.Ter211Cys) c.663A>C (p.Ter221Cys) n.678A>C n.633A>C (p.Ter211Cys) c.243+390A>C (p.=) | |
| 19 | g.49061366C>A | CA406804684 | NTF4 | c.632G>T (p.Ter211Leu) c.662G>T (p.Ter221Leu) n.677G>T n.632G>T (p.Ter211Leu) c.243+389G>T (p.=) | |
| 19 | g.49061366C>G | CA406804687 | NTF4 | c.632G>C (p.Ter211Ser) c.662G>C (p.Ter221Ser) n.677G>C n.632G>C (p.Ter211Ser) c.243+389G>C (p.=) | |
| 19 | g.49061366C>T | CA508278605 | NTF4 | c.632G>A (p.Ter211=) c.662G>A (p.Ter221=) n.677G>A n.632G>A (p.Ter211=) c.243+389G>A (p.=) | |
| 19 | g.49061367A>C | CA406804689 | NTF4 | c.631T>G (p.Ter211Gly) c.661T>G (p.Ter221Gly) n.676T>G n.631T>G (p.Ter211Gly) c.243+388T>G (p.=) | |
| 19 | g.49061367A>G | CA406804690 | NTF4 | c.631T>C (p.Ter211Arg) c.661T>C (p.Ter221Arg) n.676T>C n.631T>C (p.Ter211Arg) c.243+388T>C (p.=) | |
| 19 | g.49061367A>T | CA406804692 | NTF4 | c.631T>A (p.Ter211Arg) c.661T>A (p.Ter221Arg) n.676T>A n.631T>A (p.Ter211Arg) c.243+388T>A (p.=) | |
| 19 | g.49061368G>A | CA508278609 | NTF4 | c.630C>T (p.Ala210=) c.660C>T (p.Ala220=) n.675C>T n.630C>T (p.Ala210=) c.243+387C>T (p.=) | |
| 19 | g.49061368G>C | CA508278611 | NTF4 | c.630C>G (p.Ala210=) c.660C>G (p.Ala220=) n.675C>G n.630C>G (p.Ala210=) c.243+387C>G (p.=) | |
| 19 | g.49061368G>T | CA508278613 | NTF4 | c.630C>A (p.Ala210=) c.660C>A (p.Ala220=) n.675C>A n.630C>A (p.Ala210=) c.243+387C>A (p.=) | |
| 19 | g.49061369G>A | CA406804694 | NTF4 | c.629C>T (p.Ala210Val) c.659C>T (p.Ala220Val) n.674C>T n.629C>T (p.Ala210Val) c.243+386C>T (p.=) | |
| 19 | g.49061369G>C | CA406804695 | NTF4 | c.629C>G (p.Ala210Gly) c.659C>G (p.Ala220Gly) n.674C>G n.629C>G (p.Ala210Gly) c.243+386C>G (p.=) | |
| 19 | g.49061369G>T | CA9565589 | NTF4 | c.629C>A (p.Ala210Asp) c.659C>A (p.Ala220Asp) n.674C>A n.629C>A (p.Ala210Asp) c.243+386C>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061370C>A | CA406804698 | NTF4 | c.628G>T (p.Ala210Ser) c.658G>T (p.Ala220Ser) n.673G>T n.628G>T (p.Ala210Ser) c.243+385G>T (p.=) | |
| 19 | g.49061370C>G | CA406804700 | NTF4 | c.628G>C (p.Ala210Pro) c.658G>C (p.Ala220Pro) n.673G>C n.628G>C (p.Ala210Pro) c.243+385G>C (p.=) | |
| 19 | g.49061370C>T | CA9565590 | NTF4 | c.628G>A (p.Ala210Thr) c.658G>A (p.Ala220Thr) n.673G>A n.628G>A (p.Ala210Thr) c.243+385G>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061371C>A | CA508278618 | NTF4 | c.627G>T (p.Arg209=) c.657G>T (p.Arg219=) n.672G>T n.627G>T (p.Arg209=) c.243+384G>T (p.=) | |
| 19 | g.49061371C>G | CA508278619 | NTF4 | c.627G>C (p.Arg209=) c.657G>C (p.Arg219=) n.672G>C n.627G>C (p.Arg209=) c.243+384G>C (p.=) | |
| 19 | g.49061371C>T | CA508278620 | NTF4 | c.627G>A (p.Arg209=) c.657G>A (p.Arg219=) n.672G>A n.627G>A (p.Arg209=) c.243+384G>A (p.=) | |
| 19 | g.49061372C>A | CA406804702 | NTF4 | c.626G>T (p.Arg209Leu) c.656G>T (p.Arg219Leu) n.671G>T n.626G>T (p.Arg209Leu) c.243+383G>T (p.=) | |
| 19 | g.49061372C>G | CA406804703 | NTF4 | c.626G>C (p.Arg209Pro) c.656G>C (p.Arg219Pro) n.671G>C n.626G>C (p.Arg209Pro) c.243+383G>C (p.=) | |
| 19 | g.49061372C>T | CA9565591 | NTF4 | c.626G>A (p.Arg209Gln) c.656G>A (p.Arg219Gln) n.671G>A n.626G>A (p.Arg209Gln) c.243+383G>A (p.=) | dbSNP ExAC gnomAD COSMIC |
| 19 | g.49061373G>A | CA9565593 | NTF4 | c.625C>T (p.Arg209Trp) c.655C>T (p.Arg219Trp) n.670C>T n.625C>T (p.Arg209Trp) c.243+382C>T (p.=) | dbSNP ExAC gnomAD COSMIC |