| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49061306G>A | CA309446274 | NTF4 | n.692C>T (p.=) c.243+449C>T (p.=) c.*59C>T (p.=) | dbSNP |
| 19 | g.49061308T>C | CA883074728 | NTF4 | n.690A>G (p.=) c.243+447A>G (p.=) c.*57A>G (p.=) | |
| 19 | g.49061309G>A | CA996661761 | NTF4 | n.689C>T (p.=) c.243+446C>T (p.=) c.*56C>T (p.=) | |
| 19 | g.49061315T>A | CA9565579 | NTF4 | n.683A>T (p.=) c.243+440A>T (p.=) c.*50A>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061317C>T | CA633889977 | NTF4 | n.681G>A (p.=) c.243+438G>A (p.=) c.*48G>A (p.=) | gnomAD |
| 19 | g.49061320G>A | CA9565580 | NTF4 | n.678C>T (p.=) c.243+435C>T (p.=) c.*45C>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061322G>A | CA883074736 | NTF4 | n.676C>T (p.=) c.243+433C>T (p.=) c.*43C>T (p.=) | |
| 19 | g.49061323G>T | CA883074737 | NTF4 | n.675C>A (p.=) c.243+432C>A (p.=) c.*42C>A (p.=) | |
| 19 | g.49061326T>C | CA883074738 | NTF4 | n.672A>G (p.=) c.243+429A>G (p.=) c.*39A>G (p.=) | |
| 19 | g.49061327C>G | CA633889978 | NTF4 | n.671G>C (p.=) c.243+428G>C (p.=) c.*38G>C (p.=) | gnomAD |
| 19 | g.49061336C>T | CA996661765 | NTF4 | n.662G>A (p.=) c.243+419G>A (p.=) c.*29G>A (p.=) | |
| 19 | g.49061338G>A | CA633889979 | NTF4 | n.660C>T (p.=) c.243+417C>T (p.=) c.*27C>T (p.=) | gnomAD |
| 19 | g.49061339C>T | CA9565581 | NTF4 | n.659G>A (p.=) c.243+416G>A (p.=) c.*26G>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061340T>C | CA9565582 | NTF4 | n.658A>G (p.=) c.243+415A>G (p.=) c.*25A>G (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061343G>A | CA9565583 | NTF4 | n.655C>T (p.=) c.243+412C>T (p.=) c.*22C>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061344T>G | CA9565584 | NTF4 | n.654A>C (p.=) c.243+411A>C (p.=) c.*21A>C (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061350T>C | CA309446312 | NTF4 | n.648A>G (p.=) c.243+405A>G (p.=) c.*15A>G (p.=) | dbSNP |
| 19 | g.49061352C>G | CA9565585 | NTF4 | n.646G>C (p.=) c.243+403G>C (p.=) c.*13G>C (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061356G>A | CA996661770 | NTF4 | n.642C>T (p.=) c.243+399C>T (p.=) c.*9C>T (p.=) | |
| 19 | g.49061356G>T | CA9565586 | NTF4 | n.642C>A (p.=) c.243+399C>A (p.=) c.*9C>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061358A>G | CA9565587 | NTF4 | n.640T>C (p.=) c.243+397T>C (p.=) c.*7T>C (p.=) | dbSNP ExAC gnomAD |
| 19 | g.49061362G>A | CA9565588 | c.243+393C>T (p.=) | dbSNP ExAC gnomAD | |
| 19 | g.49061365T>A | CA406804679 | NTF4 | n.633A>T (p.Ter211Cys) c.243+390A>T (p.=) c.633A>T (p.Ter211Cys) c.663A>T (p.Ter221Cys) | |
| 19 | g.49061365T>C | CA406804680 | NTF4 | n.633A>G (p.Ter211Trp) c.243+390A>G (p.=) c.633A>G (p.Ter211Trp) c.663A>G (p.Ter221Trp) | |
| 19 | g.49061365T>G | CA406804682 | NTF4 | n.633A>C (p.Ter211Cys) c.243+390A>C (p.=) c.633A>C (p.Ter211Cys) c.663A>C (p.Ter221Cys) | |
| 19 | g.49061366C>A | CA406804684 | NTF4 | n.632G>T (p.Ter211Leu) c.243+389G>T (p.=) c.632G>T (p.Ter211Leu) c.662G>T (p.Ter221Leu) | |
| 19 | g.49061366C>G | CA406804687 | NTF4 | n.632G>C (p.Ter211Ser) c.243+389G>C (p.=) c.632G>C (p.Ter211Ser) c.662G>C (p.Ter221Ser) | |
| 19 | g.49061366C>T | CA508278605 | NTF4 | n.632G>A (p.Ter211=) c.243+389G>A (p.=) c.632G>A (p.Ter211=) c.662G>A (p.Ter221=) | |
| 19 | g.49061367A>C | CA406804689 | NTF4 | n.631T>G (p.Ter211Gly) c.243+388T>G (p.=) c.631T>G (p.Ter211Gly) c.661T>G (p.Ter221Gly) | |
| 19 | g.49061367A>G | CA406804690 | NTF4 | n.631T>C (p.Ter211Arg) c.243+388T>C (p.=) c.631T>C (p.Ter211Arg) c.661T>C (p.Ter221Arg) | |
| 19 | g.49061367A>T | CA406804692 | NTF4 | n.631T>A (p.Ter211Arg) c.243+388T>A (p.=) c.631T>A (p.Ter211Arg) c.661T>A (p.Ter221Arg) | |
| 19 | g.49061368G>A | CA508278609 | NTF4 | n.630C>T (p.Ala210=) c.243+387C>T (p.=) c.630C>T (p.Ala210=) c.660C>T (p.Ala220=) | |
| 19 | g.49061368G>C | CA508278611 | NTF4 | n.630C>G (p.Ala210=) c.243+387C>G (p.=) c.630C>G (p.Ala210=) c.660C>G (p.Ala220=) | |
| 19 | g.49061368G>T | CA508278613 | NTF4 | n.630C>A (p.Ala210=) c.243+387C>A (p.=) c.630C>A (p.Ala210=) c.660C>A (p.Ala220=) | |
| 19 | g.49061369G>A | CA406804694 | NTF4 | n.629C>T (p.Ala210Val) c.243+386C>T (p.=) c.629C>T (p.Ala210Val) c.659C>T (p.Ala220Val) | |
| 19 | g.49061369G>C | CA406804695 | NTF4 | n.629C>G (p.Ala210Gly) c.243+386C>G (p.=) c.629C>G (p.Ala210Gly) c.659C>G (p.Ala220Gly) | |
| 19 | g.49061369G>T | CA9565589 | NTF4 | n.629C>A (p.Ala210Asp) c.243+386C>A (p.=) c.629C>A (p.Ala210Asp) c.659C>A (p.Ala220Asp) | dbSNP ExAC gnomAD |
| 19 | g.49061370C>A | CA406804698 | NTF4 | n.628G>T (p.Ala210Ser) c.243+385G>T (p.=) c.628G>T (p.Ala210Ser) c.658G>T (p.Ala220Ser) | |
| 19 | g.49061370C>G | CA406804700 | NTF4 | n.628G>C (p.Ala210Pro) c.243+385G>C (p.=) c.628G>C (p.Ala210Pro) c.658G>C (p.Ala220Pro) | |
| 19 | g.49061370C>T | CA9565590 | NTF4 | n.628G>A (p.Ala210Thr) c.243+385G>A (p.=) c.628G>A (p.Ala210Thr) c.658G>A (p.Ala220Thr) | dbSNP ExAC gnomAD |
| 19 | g.49061371C>A | CA508278618 | NTF4 | n.627G>T (p.Arg209=) c.243+384G>T (p.=) c.627G>T (p.Arg209=) c.657G>T (p.Arg219=) | |
| 19 | g.49061371C>G | CA508278619 | NTF4 | n.627G>C (p.Arg209=) c.243+384G>C (p.=) c.627G>C (p.Arg209=) c.657G>C (p.Arg219=) | |
| 19 | g.49061371C>T | CA508278620 | NTF4 | n.627G>A (p.Arg209=) c.243+384G>A (p.=) c.627G>A (p.Arg209=) c.657G>A (p.Arg219=) | |
| 19 | g.49061372C>A | CA406804702 | NTF4 | n.626G>T (p.Arg209Leu) c.243+383G>T (p.=) c.626G>T (p.Arg209Leu) c.656G>T (p.Arg219Leu) | |
| 19 | g.49061372C>G | CA406804703 | NTF4 | n.626G>C (p.Arg209Pro) c.243+383G>C (p.=) c.626G>C (p.Arg209Pro) c.656G>C (p.Arg219Pro) | |
| 19 | g.49061372C>T | CA9565591 | NTF4 | n.626G>A (p.Arg209Gln) c.243+383G>A (p.=) c.626G>A (p.Arg209Gln) c.656G>A (p.Arg219Gln) | dbSNP ExAC gnomAD COSMIC |
| 19 | g.49061373G>A | CA9565593 | NTF4 | n.625C>T (p.Arg209Trp) c.243+382C>T (p.=) c.625C>T (p.Arg209Trp) c.655C>T (p.Arg219Trp) | dbSNP ExAC gnomAD COSMIC |
| 19 | g.49061373G>C | CA9565592 | NTF4 | n.625C>G (p.Arg209Gly) c.243+382C>G (p.=) c.625C>G (p.Arg209Gly) c.655C>G (p.Arg219Gly) | dbSNP ExAC gnomAD |
| 19 | g.49061373G>T | CA508278624 | NTF4 | n.625C>A (p.Arg209=) c.243+382C>A (p.=) c.625C>A (p.Arg209=) c.655C>A (p.Arg219=) | |
| 19 | g.49061373del | CA633889998 | NTF4 | n.624del (p.Arg209GlyfsTer15) c.243+381del (p.=) c.624del (p.Arg209GlyfsTer15) c.654del (p.Arg219GlyfsTer15) | dbSNP gnomAD |