| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178784192_178784208del | CA2580065167 | TTN | c.2640_2656del (p.Gln880HisfsTer8) c.2502_2518del (p.Gln834HisfsTer8) c.2688_2704del (p.Gln896HisfsTer8) c.2547_2563del (p.Gln849HisfsTer8) c.2685_2701del (p.Gln895HisfsTer8) c.2643_2659del (p.Gln881HisfsTer8) | ClinVar |
| 2 | g.178784195C>A | CA349495880 | TTN | c.2650G>T (p.Ala884Ser) c.2512G>T (p.Ala838Ser) c.2698G>T (p.Ala900Ser) c.2557G>T (p.Ala853Ser) c.2695G>T (p.Ala899Ser) c.2653G>T (p.Ala885Ser) | |
| 2 | g.178784195C= | CA1310620856 | TTN | c.2650G= (p.Ala884=) c.2512G= (p.Ala838=) c.2698G= (p.Ala900=) c.2557G= (p.Ala853=) c.2695G= (p.Ala899=) c.2653G= (p.Ala885=) | |
| 2 | g.178784195C>G | CA349495883 | TTN | c.2650G>C (p.Ala884Pro) c.2512G>C (p.Ala838Pro) c.2698G>C (p.Ala900Pro) c.2557G>C (p.Ala853Pro) c.2695G>C (p.Ala899Pro) c.2653G>C (p.Ala885Pro) | |
| 2 | g.178784195C>T | CA2005768 | TTN | c.2650G>A (p.Ala884Thr) c.2512G>A (p.Ala838Thr) c.2698G>A (p.Ala900Thr) c.2557G>A (p.Ala853Thr) c.2695G>A (p.Ala899Thr) c.2653G>A (p.Ala885Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784196G>A | CA2005769 | TTN | c.2649C>T (p.Phe883=) c.2511C>T (p.Phe837=) c.2697C>T (p.Phe899=) c.2556C>T (p.Phe852=) c.2694C>T (p.Phe898=) c.2652C>T (p.Phe884=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784196G>C | CA349495888 | TTN | c.2649C>G (p.Phe883Leu) c.2511C>G (p.Phe837Leu) c.2697C>G (p.Phe899Leu) c.2556C>G (p.Phe852Leu) c.2694C>G (p.Phe898Leu) c.2652C>G (p.Phe884Leu) | |
| 2 | g.178784196G= | CA1310620857 | TTN | c.2649C= (p.Phe883=) c.2511C= (p.Phe837=) c.2697C= (p.Phe899=) c.2556C= (p.Phe852=) c.2694C= (p.Phe898=) c.2652C= (p.Phe884=) | |
| 2 | g.178784196G>T | CA349495894 | TTN | c.2649C>A (p.Phe883Leu) c.2511C>A (p.Phe837Leu) c.2697C>A (p.Phe899Leu) c.2556C>A (p.Phe852Leu) c.2694C>A (p.Phe898Leu) c.2652C>A (p.Phe884Leu) | dbSNP |
| 2 | g.178784197A>C | CA349495897 | TTN | c.2648T>G (p.Phe883Cys) c.2510T>G (p.Phe837Cys) c.2696T>G (p.Phe899Cys) c.2555T>G (p.Phe852Cys) c.2693T>G (p.Phe898Cys) c.2651T>G (p.Phe884Cys) | |
| 2 | g.178784197A>G | CA349495900 | TTN | c.2648T>C (p.Phe883Ser) c.2510T>C (p.Phe837Ser) c.2696T>C (p.Phe899Ser) c.2555T>C (p.Phe852Ser) c.2693T>C (p.Phe898Ser) c.2651T>C (p.Phe884Ser) | |
| 2 | g.178784197A>T | CA349495905 | TTN | c.2648T>A (p.Phe883Tyr) c.2510T>A (p.Phe837Tyr) c.2696T>A (p.Phe899Tyr) c.2555T>A (p.Phe852Tyr) c.2693T>A (p.Phe898Tyr) c.2651T>A (p.Phe884Tyr) | |
| 2 | g.178784198A>C | CA349495912 | TTN | c.2647T>G (p.Phe883Val) c.2509T>G (p.Phe837Val) c.2695T>G (p.Phe899Val) c.2554T>G (p.Phe852Val) c.2692T>G (p.Phe898Val) c.2650T>G (p.Phe884Val) | |
| 2 | g.178784198A>G | CA349495908 | TTN | c.2647T>C (p.Phe883Leu) c.2509T>C (p.Phe837Leu) c.2695T>C (p.Phe899Leu) c.2554T>C (p.Phe852Leu) c.2692T>C (p.Phe898Leu) c.2650T>C (p.Phe884Leu) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784198A>T | CA349495909 | TTN | c.2647T>A (p.Phe883Ile) c.2509T>A (p.Phe837Ile) c.2695T>A (p.Phe899Ile) c.2554T>A (p.Phe852Ile) c.2692T>A (p.Phe898Ile) c.2650T>A (p.Phe884Ile) | |
| 2 | g.178784199G>A | CA2005770 | TTN | c.2646C>T (p.Pro882=) c.2508C>T (p.Pro836=) c.2694C>T (p.Pro898=) c.2553C>T (p.Pro851=) c.2691C>T (p.Pro897=) c.2649C>T (p.Pro883=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784199G>C | CA430112030 | TTN | c.2646C>G (p.Pro882=) c.2508C>G (p.Pro836=) c.2694C>G (p.Pro898=) c.2553C>G (p.Pro851=) c.2691C>G (p.Pro897=) c.2649C>G (p.Pro883=) | ClinVar gnomAD v4 |
| 2 | g.178784199G= | CA1310620858 | TTN | c.2646C= (p.Pro882=) c.2508C= (p.Pro836=) c.2694C= (p.Pro898=) c.2553C= (p.Pro851=) c.2691C= (p.Pro897=) c.2649C= (p.Pro883=) | |
| 2 | g.178784199G>T | CA430112031 | TTN | c.2646C>A (p.Pro882=) c.2508C>A (p.Pro836=) c.2694C>A (p.Pro898=) c.2553C>A (p.Pro851=) c.2691C>A (p.Pro897=) c.2649C>A (p.Pro883=) | |
| 2 | g.178784200G>A | CA349495924 | TTN | c.2645C>T (p.Pro882Leu) c.2507C>T (p.Pro836Leu) c.2693C>T (p.Pro898Leu) c.2552C>T (p.Pro851Leu) c.2690C>T (p.Pro897Leu) c.2648C>T (p.Pro883Leu) | |
| 2 | g.178784200G>C | CA349495929 | TTN | c.2645C>G (p.Pro882Arg) c.2507C>G (p.Pro836Arg) c.2693C>G (p.Pro898Arg) c.2552C>G (p.Pro851Arg) c.2690C>G (p.Pro897Arg) c.2648C>G (p.Pro883Arg) | |
| 2 | g.178784200G>T | CA349495931 | TTN | c.2645C>A (p.Pro882His) c.2507C>A (p.Pro836His) c.2693C>A (p.Pro898His) c.2552C>A (p.Pro851His) c.2690C>A (p.Pro897His) c.2648C>A (p.Pro883His) | |
| 2 | g.178784200_178784201delinsAA | CA645514564 | TTN | c.2644_2645delinsTT (p.Pro882Phe) c.2506_2507delinsTT (p.Pro836Phe) c.2692_2693delinsTT (p.Pro898Phe) c.2551_2552delinsTT (p.Pro851Phe) c.2689_2690delinsTT (p.Pro897Phe) c.2647_2648delinsTT (p.Pro883Phe) | COSMIC COSMIC COSMIC |
| 2 | g.178784201G>A | CA349495932 | TTN | c.2644C>T (p.Pro882Ser) c.2506C>T (p.Pro836Ser) c.2692C>T (p.Pro898Ser) c.2551C>T (p.Pro851Ser) c.2689C>T (p.Pro897Ser) c.2647C>T (p.Pro883Ser) | |
| 2 | g.178784201G>C | CA349495935 | TTN | c.2644C>G (p.Pro882Ala) c.2506C>G (p.Pro836Ala) c.2692C>G (p.Pro898Ala) c.2551C>G (p.Pro851Ala) c.2689C>G (p.Pro897Ala) c.2647C>G (p.Pro883Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178784201G= | CA1310620859 | TTN | c.2644C= (p.Pro882=) c.2506C= (p.Pro836=) c.2692C= (p.Pro898=) c.2551C= (p.Pro851=) c.2689C= (p.Pro897=) c.2647C= (p.Pro883=) | |
| 2 | g.178784201G>T | CA349495943 | TTN | c.2644C>A (p.Pro882Thr) c.2506C>A (p.Pro836Thr) c.2692C>A (p.Pro898Thr) c.2551C>A (p.Pro851Thr) c.2689C>A (p.Pro897Thr) c.2647C>A (p.Pro883Thr) | |
| 2 | g.178784202G>A | CA430112033 | TTN | c.2643C>T (p.Phe881=) c.2505C>T (p.Phe835=) c.2691C>T (p.Phe897=) c.2550C>T (p.Phe850=) c.2688C>T (p.Phe896=) c.2646C>T (p.Phe882=) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784202G>C | CA349495946 | TTN | c.2643C>G (p.Phe881Leu) c.2505C>G (p.Phe835Leu) c.2691C>G (p.Phe897Leu) c.2550C>G (p.Phe850Leu) c.2688C>G (p.Phe896Leu) c.2646C>G (p.Phe882Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178784202G= | CA1310620860 | TTN | c.2643C= (p.Phe881=) c.2505C= (p.Phe835=) c.2691C= (p.Phe897=) c.2550C= (p.Phe850=) c.2688C= (p.Phe896=) c.2646C= (p.Phe882=) | |
| 2 | g.178784202G>T | CA349495948 | TTN | c.2643C>A (p.Phe881Leu) c.2505C>A (p.Phe835Leu) c.2691C>A (p.Phe897Leu) c.2550C>A (p.Phe850Leu) c.2688C>A (p.Phe896Leu) c.2646C>A (p.Phe882Leu) | |
| 2 | g.178784203A>C | CA349495954 | TTN | c.2642T>G (p.Phe881Cys) c.2504T>G (p.Phe835Cys) c.2690T>G (p.Phe897Cys) c.2549T>G (p.Phe850Cys) c.2687T>G (p.Phe896Cys) c.2645T>G (p.Phe882Cys) | |
| 2 | g.178784203A>G | CA349495955 | TTN | c.2642T>C (p.Phe881Ser) c.2504T>C (p.Phe835Ser) c.2690T>C (p.Phe897Ser) c.2549T>C (p.Phe850Ser) c.2687T>C (p.Phe896Ser) c.2645T>C (p.Phe882Ser) | |
| 2 | g.178784203A>T | CA349495956 | TTN | c.2642T>A (p.Phe881Tyr) c.2504T>A (p.Phe835Tyr) c.2690T>A (p.Phe897Tyr) c.2549T>A (p.Phe850Tyr) c.2687T>A (p.Phe896Tyr) c.2645T>A (p.Phe882Tyr) | |
| 2 | g.178784204A= | CA1310620861 | TTN | c.2641T= (p.Phe881=) c.2503T= (p.Phe835=) c.2689T= (p.Phe897=) c.2548T= (p.Phe850=) c.2686T= (p.Phe896=) c.2644T= (p.Phe882=) | |
| 2 | g.178784204A>C | CA349495965 | TTN | c.2641T>G (p.Phe881Val) c.2503T>G (p.Phe835Val) c.2689T>G (p.Phe897Val) c.2548T>G (p.Phe850Val) c.2686T>G (p.Phe896Val) c.2644T>G (p.Phe882Val) | dbSNP |
| 2 | g.178784204A>G | CA349495970 | TTN | c.2641T>C (p.Phe881Leu) c.2503T>C (p.Phe835Leu) c.2689T>C (p.Phe897Leu) c.2548T>C (p.Phe850Leu) c.2686T>C (p.Phe896Leu) c.2644T>C (p.Phe882Leu) | |
| 2 | g.178784204A>T | CA349495958 | TTN | c.2641T>A (p.Phe881Ile) c.2503T>A (p.Phe835Ile) c.2689T>A (p.Phe897Ile) c.2548T>A (p.Phe850Ile) c.2686T>A (p.Phe896Ile) c.2644T>A (p.Phe882Ile) | gnomAD v4 |
| 2 | g.178784205C>A | CA349495972 | TTN | c.2640G>T (p.Gln880His) c.2502G>T (p.Gln834His) c.2688G>T (p.Gln896His) c.2547G>T (p.Gln849His) c.2685G>T (p.Gln895His) c.2643G>T (p.Gln881His) | dbSNP |
| 2 | g.178784205C= | CA1310620862 | TTN | c.2640G= (p.Gln880=) c.2502G= (p.Gln834=) c.2688G= (p.Gln896=) c.2547G= (p.Gln849=) c.2685G= (p.Gln895=) c.2643G= (p.Gln881=) | |
| 2 | g.178784205C>G | CA349495971 | TTN | c.2640G>C (p.Gln880His) c.2502G>C (p.Gln834His) c.2688G>C (p.Gln896His) c.2547G>C (p.Gln849His) c.2685G>C (p.Gln895His) c.2643G>C (p.Gln881His) | |
| 2 | g.178784205C>T | CA430112035 | TTN | c.2640G>A (p.Gln880=) c.2502G>A (p.Gln834=) c.2688G>A (p.Gln896=) c.2547G>A (p.Gln849=) c.2685G>A (p.Gln895=) c.2643G>A (p.Gln881=) | gnomAD v4 |
| 2 | g.178784206T>A | CA349495974 | TTN | c.2639A>T (p.Gln880Leu) c.2501A>T (p.Gln834Leu) c.2687A>T (p.Gln896Leu) c.2546A>T (p.Gln849Leu) c.2684A>T (p.Gln895Leu) c.2642A>T (p.Gln881Leu) | |
| 2 | g.178784206T>C | CA2005771 | TTN | c.2639A>G (p.Gln880Arg) c.2501A>G (p.Gln834Arg) c.2687A>G (p.Gln896Arg) c.2546A>G (p.Gln849Arg) c.2684A>G (p.Gln895Arg) c.2642A>G (p.Gln881Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784206T>G | CA349495984 | TTN | c.2639A>C (p.Gln880Pro) c.2501A>C (p.Gln834Pro) c.2687A>C (p.Gln896Pro) c.2546A>C (p.Gln849Pro) c.2684A>C (p.Gln895Pro) c.2642A>C (p.Gln881Pro) | gnomAD v4 |
| 2 | g.178784206T= | CA1310620863 | TTN | c.2639A= (p.Gln880=) c.2501A= (p.Gln834=) c.2687A= (p.Gln896=) c.2546A= (p.Gln849=) c.2684A= (p.Gln895=) c.2642A= (p.Gln881=) | |
| 2 | g.178784207G>A | CA349495987 | TTN | c.2638C>T (p.Gln880Ter) c.2500C>T (p.Gln834Ter) c.2686C>T (p.Gln896Ter) c.2545C>T (p.Gln849Ter) c.2683C>T (p.Gln895Ter) c.2641C>T (p.Gln881Ter) | |
| 2 | g.178784207G>C | CA349495988 | TTN | c.2638C>G (p.Gln880Glu) c.2500C>G (p.Gln834Glu) c.2686C>G (p.Gln896Glu) c.2545C>G (p.Gln849Glu) c.2683C>G (p.Gln895Glu) c.2641C>G (p.Gln881Glu) | |
| 2 | g.178784207G>T | CA349495991 | TTN | c.2638C>A (p.Gln880Lys) c.2500C>A (p.Gln834Lys) c.2686C>A (p.Gln896Lys) c.2545C>A (p.Gln849Lys) c.2683C>A (p.Gln895Lys) c.2641C>A (p.Gln881Lys) | |
| 2 | g.178784208T>A | CA430112037 | TTN | c.2637A>T (p.Pro879=) c.2499A>T (p.Pro833=) c.2685A>T (p.Pro895=) c.2544A>T (p.Pro848=) c.2682A>T (p.Pro894=) c.2640A>T (p.Pro880=) |