| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178784085G>A | CA2005745 | TTN | c.2760C>T (p.His920=) c.2622C>T (p.His874=) c.2808C>T (p.His936=) c.2667C>T (p.His889=) c.2805C>T (p.His935=) c.2763C>T (p.His921=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784085G>C | CA349494824 | TTN | c.2760C>G (p.His920Gln) c.2622C>G (p.His874Gln) c.2808C>G (p.His936Gln) c.2667C>G (p.His889Gln) c.2805C>G (p.His935Gln) c.2763C>G (p.His921Gln) | gnomAD v4 |
| 2 | g.178784085G= | CA1310620801 | TTN | c.2760C= (p.His920=) c.2622C= (p.His874=) c.2808C= (p.His936=) c.2667C= (p.His889=) c.2805C= (p.His935=) c.2763C= (p.His921=) | |
| 2 | g.178784085G>T | CA349494834 | TTN | c.2760C>A (p.His920Gln) c.2622C>A (p.His874Gln) c.2808C>A (p.His936Gln) c.2667C>A (p.His889Gln) c.2805C>A (p.His935Gln) c.2763C>A (p.His921Gln) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784086T>A | CA349494843 | TTN | c.2759A>T (p.His920Leu) c.2621A>T (p.His874Leu) c.2807A>T (p.His936Leu) c.2666A>T (p.His889Leu) c.2804A>T (p.His935Leu) c.2762A>T (p.His921Leu) | |
| 2 | g.178784086T>C | CA349494841 | TTN | c.2759A>G (p.His920Arg) c.2621A>G (p.His874Arg) c.2807A>G (p.His936Arg) c.2666A>G (p.His889Arg) c.2804A>G (p.His935Arg) c.2762A>G (p.His921Arg) | gnomAD v4 |
| 2 | g.178784086T>G | CA349494836 | TTN | c.2759A>C (p.His920Pro) c.2621A>C (p.His874Pro) c.2807A>C (p.His936Pro) c.2666A>C (p.His889Pro) c.2804A>C (p.His935Pro) c.2762A>C (p.His921Pro) | |
| 2 | g.178784087G>A | CA10611719 | TTN | c.2758C>T (p.His920Tyr) c.2620C>T (p.His874Tyr) c.2806C>T (p.His936Tyr) c.2665C>T (p.His889Tyr) c.2803C>T (p.His935Tyr) c.2761C>T (p.His921Tyr) | ClinVar dbSNP |
| 2 | g.178784087G>C | CA349494851 | TTN | c.2758C>G (p.His920Asp) c.2620C>G (p.His874Asp) c.2806C>G (p.His936Asp) c.2665C>G (p.His889Asp) c.2803C>G (p.His935Asp) c.2761C>G (p.His921Asp) | |
| 2 | g.178784087G= | CA1310620802 | TTN | c.2758C= (p.His920=) c.2620C= (p.His874=) c.2806C= (p.His936=) c.2665C= (p.His889=) c.2803C= (p.His935=) c.2761C= (p.His921=) | |
| 2 | g.178784087G>T | CA349494853 | TTN | c.2758C>A (p.His920Asn) c.2620C>A (p.His874Asn) c.2806C>A (p.His936Asn) c.2665C>A (p.His889Asn) c.2803C>A (p.His935Asn) c.2761C>A (p.His921Asn) | |
| 2 | g.178784088C>A | CA430111736 | TTN | c.2757G>T (p.Leu919=) c.2619G>T (p.Leu873=) c.2805G>T (p.Leu935=) c.2664G>T (p.Leu888=) c.2802G>T (p.Leu934=) c.2760G>T (p.Leu920=) | |
| 2 | g.178784088C>G | CA430111735 | TTN | c.2757G>C (p.Leu919=) c.2619G>C (p.Leu873=) c.2805G>C (p.Leu935=) c.2664G>C (p.Leu888=) c.2802G>C (p.Leu934=) c.2760G>C (p.Leu920=) | |
| 2 | g.178784088C>T | CA430111734 | TTN | c.2757G>A (p.Leu919=) c.2619G>A (p.Leu873=) c.2805G>A (p.Leu935=) c.2664G>A (p.Leu888=) c.2802G>A (p.Leu934=) c.2760G>A (p.Leu920=) | |
| 2 | g.178784089A>C | CA349494858 | TTN | c.2756T>G (p.Leu919Arg) c.2618T>G (p.Leu873Arg) c.2804T>G (p.Leu935Arg) c.2663T>G (p.Leu888Arg) c.2801T>G (p.Leu934Arg) c.2759T>G (p.Leu920Arg) | |
| 2 | g.178784089A>G | CA349494861 | TTN | c.2756T>C (p.Leu919Pro) c.2618T>C (p.Leu873Pro) c.2804T>C (p.Leu935Pro) c.2663T>C (p.Leu888Pro) c.2801T>C (p.Leu934Pro) c.2759T>C (p.Leu920Pro) | gnomAD v4 |
| 2 | g.178784089A>T | CA349494863 | TTN | c.2756T>A (p.Leu919Gln) c.2618T>A (p.Leu873Gln) c.2804T>A (p.Leu935Gln) c.2663T>A (p.Leu888Gln) c.2801T>A (p.Leu934Gln) c.2759T>A (p.Leu920Gln) | |
| 2 | g.178784090G>A | CA430111737 | TTN | c.2755C>T (p.Leu919=) c.2617C>T (p.Leu873=) c.2803C>T (p.Leu935=) c.2662C>T (p.Leu888=) c.2800C>T (p.Leu934=) c.2758C>T (p.Leu920=) | gnomAD v4 |
| 2 | g.178784090G>C | CA349494868 | TTN | c.2755C>G (p.Leu919Val) c.2617C>G (p.Leu873Val) c.2803C>G (p.Leu935Val) c.2662C>G (p.Leu888Val) c.2800C>G (p.Leu934Val) c.2758C>G (p.Leu920Val) | |
| 2 | g.178784090G>T | CA349494870 | TTN | c.2755C>A (p.Leu919Met) c.2617C>A (p.Leu873Met) c.2803C>A (p.Leu935Met) c.2662C>A (p.Leu888Met) c.2800C>A (p.Leu934Met) c.2758C>A (p.Leu920Met) | |
| 2 | g.178784091T>A | CA430111738 | TTN | c.2754A>T (p.Val918=) c.2616A>T (p.Val872=) c.2802A>T (p.Val934=) c.2661A>T (p.Val887=) c.2799A>T (p.Val933=) c.2757A>T (p.Val919=) | |
| 2 | g.178784091T>C | CA430111739 | TTN | c.2754A>G (p.Val918=) c.2616A>G (p.Val872=) c.2802A>G (p.Val934=) c.2661A>G (p.Val887=) c.2799A>G (p.Val933=) c.2757A>G (p.Val919=) | |
| 2 | g.178784091T>G | CA430111740 | TTN | c.2754A>C (p.Val918=) c.2616A>C (p.Val872=) c.2802A>C (p.Val934=) c.2661A>C (p.Val887=) c.2799A>C (p.Val933=) c.2757A>C (p.Val919=) | |
| 2 | g.178784092A>C | CA349494872 | TTN | c.2753T>G (p.Val918Gly) c.2615T>G (p.Val872Gly) c.2801T>G (p.Val934Gly) c.2660T>G (p.Val887Gly) c.2798T>G (p.Val933Gly) c.2756T>G (p.Val919Gly) | |
| 2 | g.178784092A>G | CA349494873 | TTN | c.2753T>C (p.Val918Ala) c.2615T>C (p.Val872Ala) c.2801T>C (p.Val934Ala) c.2660T>C (p.Val887Ala) c.2798T>C (p.Val933Ala) c.2756T>C (p.Val919Ala) | |
| 2 | g.178784092A>T | CA349494874 | TTN | c.2753T>A (p.Val918Glu) c.2615T>A (p.Val872Glu) c.2801T>A (p.Val934Glu) c.2660T>A (p.Val887Glu) c.2798T>A (p.Val933Glu) c.2756T>A (p.Val919Glu) | |
| 2 | g.178784093C>A | CA2005746 | TTN | c.2752G>T (p.Val918Leu) c.2614G>T (p.Val872Leu) c.2800G>T (p.Val934Leu) c.2659G>T (p.Val887Leu) c.2797G>T (p.Val933Leu) c.2755G>T (p.Val919Leu) | dbSNP ExAC gnomAD v2 |
| 2 | g.178784093C= | CA1310620803 | TTN | c.2752G= (p.Val918=) c.2614G= (p.Val872=) c.2800G= (p.Val934=) c.2659G= (p.Val887=) c.2797G= (p.Val933=) c.2755G= (p.Val919=) | |
| 2 | g.178784093C>G | CA349494883 | TTN | c.2752G>C (p.Val918Leu) c.2614G>C (p.Val872Leu) c.2800G>C (p.Val934Leu) c.2659G>C (p.Val887Leu) c.2797G>C (p.Val933Leu) c.2755G>C (p.Val919Leu) | |
| 2 | g.178784093C>T | CA349494880 | TTN | c.2752G>A (p.Val918Ile) c.2614G>A (p.Val872Ile) c.2800G>A (p.Val934Ile) c.2659G>A (p.Val887Ile) c.2797G>A (p.Val933Ile) c.2755G>A (p.Val919Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178784094T>A | CA349494887 | TTN | c.2751A>T (p.Glu917Asp) c.2613A>T (p.Glu871Asp) c.2799A>T (p.Glu933Asp) c.2658A>T (p.Glu886Asp) c.2796A>T (p.Glu932Asp) c.2754A>T (p.Glu918Asp) | |
| 2 | g.178784094T>C | CA430111741 | TTN | c.2751A>G (p.Glu917=) c.2613A>G (p.Glu871=) c.2799A>G (p.Glu933=) c.2658A>G (p.Glu886=) c.2796A>G (p.Glu932=) c.2754A>G (p.Glu918=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784094T>G | CA349494890 | TTN | c.2751A>C (p.Glu917Asp) c.2613A>C (p.Glu871Asp) c.2799A>C (p.Glu933Asp) c.2658A>C (p.Glu886Asp) c.2796A>C (p.Glu932Asp) c.2754A>C (p.Glu918Asp) | |
| 2 | g.178784095T>A | CA349494894 | TTN | c.2750A>T (p.Glu917Val) c.2612A>T (p.Glu871Val) c.2798A>T (p.Glu933Val) c.2657A>T (p.Glu886Val) c.2795A>T (p.Glu932Val) c.2753A>T (p.Glu918Val) | |
| 2 | g.178784095T>C | CA349494896 | TTN | c.2750A>G (p.Glu917Gly) c.2612A>G (p.Glu871Gly) c.2798A>G (p.Glu933Gly) c.2657A>G (p.Glu886Gly) c.2795A>G (p.Glu932Gly) c.2753A>G (p.Glu918Gly) | |
| 2 | g.178784095T>G | CA349494902 | TTN | c.2750A>C (p.Glu917Ala) c.2612A>C (p.Glu871Ala) c.2798A>C (p.Glu933Ala) c.2657A>C (p.Glu886Ala) c.2795A>C (p.Glu932Ala) c.2753A>C (p.Glu918Ala) | |
| 2 | g.178784096C>A | CA349494905 | TTN | c.2749G>T (p.Glu917Ter) c.2611G>T (p.Glu871Ter) c.2797G>T (p.Glu933Ter) c.2656G>T (p.Glu886Ter) c.2794G>T (p.Glu932Ter) c.2752G>T (p.Glu918Ter) | |
| 2 | g.178784096C>G | CA349494907 | TTN | c.2749G>C (p.Glu917Gln) c.2611G>C (p.Glu871Gln) c.2797G>C (p.Glu933Gln) c.2656G>C (p.Glu886Gln) c.2794G>C (p.Glu932Gln) c.2752G>C (p.Glu918Gln) | |
| 2 | g.178784096C>T | CA349494910 | TTN | c.2749G>A (p.Glu917Lys) c.2611G>A (p.Glu871Lys) c.2797G>A (p.Glu933Lys) c.2656G>A (p.Glu886Lys) c.2794G>A (p.Glu932Lys) c.2752G>A (p.Glu918Lys) | |
| 2 | g.178784097A>C | CA349494914 | TTN | c.2748T>G (p.Phe916Leu) c.2610T>G (p.Phe870Leu) c.2796T>G (p.Phe932Leu) c.2655T>G (p.Phe885Leu) c.2793T>G (p.Phe931Leu) c.2751T>G (p.Phe917Leu) | |
| 2 | g.178784097A>G | CA430111742 | TTN | c.2748T>C (p.Phe916=) c.2610T>C (p.Phe870=) c.2796T>C (p.Phe932=) c.2655T>C (p.Phe885=) c.2793T>C (p.Phe931=) c.2751T>C (p.Phe917=) | |
| 2 | g.178784097A>T | CA349494916 | TTN | c.2748T>A (p.Phe916Leu) c.2610T>A (p.Phe870Leu) c.2796T>A (p.Phe932Leu) c.2655T>A (p.Phe885Leu) c.2793T>A (p.Phe931Leu) c.2751T>A (p.Phe917Leu) | |
| 2 | g.178784098A>C | CA349494921 | TTN | c.2747T>G (p.Phe916Cys) c.2609T>G (p.Phe870Cys) c.2795T>G (p.Phe932Cys) c.2654T>G (p.Phe885Cys) c.2792T>G (p.Phe931Cys) c.2750T>G (p.Phe917Cys) | |
| 2 | g.178784098A>G | CA349494924 | TTN | c.2747T>C (p.Phe916Ser) c.2609T>C (p.Phe870Ser) c.2795T>C (p.Phe932Ser) c.2654T>C (p.Phe885Ser) c.2792T>C (p.Phe931Ser) c.2750T>C (p.Phe917Ser) | |
| 2 | g.178784098A>T | CA349494927 | TTN | c.2747T>A (p.Phe916Tyr) c.2609T>A (p.Phe870Tyr) c.2795T>A (p.Phe932Tyr) c.2654T>A (p.Phe885Tyr) c.2792T>A (p.Phe931Tyr) c.2750T>A (p.Phe917Tyr) | |
| 2 | g.178784099A>C | CA349494936 | TTN | c.2746T>G (p.Phe916Val) c.2608T>G (p.Phe870Val) c.2794T>G (p.Phe932Val) c.2653T>G (p.Phe885Val) c.2791T>G (p.Phe931Val) c.2749T>G (p.Phe917Val) | |
| 2 | g.178784099A>G | CA349494934 | TTN | c.2746T>C (p.Phe916Leu) c.2608T>C (p.Phe870Leu) c.2794T>C (p.Phe932Leu) c.2653T>C (p.Phe885Leu) c.2791T>C (p.Phe931Leu) c.2749T>C (p.Phe917Leu) | |
| 2 | g.178784099A>T | CA349494930 | TTN | c.2746T>A (p.Phe916Ile) c.2608T>A (p.Phe870Ile) c.2794T>A (p.Phe932Ile) c.2653T>A (p.Phe885Ile) c.2791T>A (p.Phe931Ile) c.2749T>A (p.Phe917Ile) | |
| 2 | g.178784100G>A | CA430111743 | TTN | c.2745C>T (p.Arg915=) c.2607C>T (p.Arg869=) c.2793C>T (p.Arg931=) c.2652C>T (p.Arg884=) c.2790C>T (p.Arg930=) c.2748C>T (p.Arg916=) | |
| 2 | g.178784100G>C | CA2005747 | TTN | c.2745C>G (p.Arg915=) c.2607C>G (p.Arg869=) c.2793C>G (p.Arg931=) c.2652C>G (p.Arg884=) c.2790C>G (p.Arg930=) c.2748C>G (p.Arg916=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |