Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110345323C>A | CA127423 | ATP2A2 | c.2682C>A (p.Tyr894Ter) c.*2522C>A (n.*2522C>A) c.2353C>A n.2688C>A | ClinVar dbSNP |
12 | g.110345323C= | CA2062809917 | ATP2A2 | c.2682C= (p.Tyr894=) c.*2522C= (n.*2522C=) c.2353C= n.2688C= | |
12 | g.110345323C>G | CA386677441 | ATP2A2 | c.2682C>G (p.Tyr894Ter) c.*2522C>G (n.*2522C>G) c.2353C>G n.2688C>G | |
12 | g.110345323C>T | CA6784175 | ATP2A2 | c.2682C>T (p.Tyr894=) c.*2522C>T (n.*2522C>T) c.2353C>T n.2688C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110345324C>A | CA386677444 | ATP2A2 | c.2683C>A (p.Pro895Thr) c.*2523C>A (n.*2523C>A) c.2354C>A n.2689C>A | |
12 | g.110345324C= | CA2062809921 | ATP2A2 | c.2683C= (p.Pro895=) c.*2523C= (n.*2523C=) c.2354C= n.2689C= | |
12 | g.110345324C>G | CA386677442 | ATP2A2 | c.2683C>G (p.Pro895Ala) c.*2523C>G (n.*2523C>G) c.2354C>G n.2689C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110345324C>T | CA386677443 | ATP2A2 | c.2683C>T (p.Pro895Ser) c.*2523C>T (n.*2523C>T) c.2354C>T n.2689C>T | |
12 | g.110345325C>A | CA386677445 | ATP2A2 | c.2684C>A (p.Pro895Gln) c.*2524C>A (n.*2524C>A) c.2355C>A n.2690C>A | COSMIC |
12 | g.110345325C>G | CA386677446 | ATP2A2 | c.2684C>G (p.Pro895Arg) c.*2524C>G (n.*2524C>G) c.2355C>G n.2690C>G | |
12 | g.110345325C>T | CA386677447 | ATP2A2 | c.2684C>T (p.Pro895Leu) c.*2524C>T (n.*2524C>T) c.2355C>T n.2690C>T | |
12 | g.110345326G>A | CA6784176 | ATP2A2 | c.2685G>A (p.Pro895=) c.*2525G>A (n.*2525G>A) c.2356G>A n.2691G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110345326G>C | CA481739076 | ATP2A2 | c.2685G>C (p.Pro895=) c.*2525G>C (n.*2525G>C) c.2356G>C n.2691G>C | |
12 | g.110345326G= | CA2062809927 | ATP2A2 | c.2685G= (p.Pro895=) c.*2525G= (n.*2525G=) c.2356G= n.2691G= | |
12 | g.110345326G>T | CA481739077 | ATP2A2 | c.2685G>T (p.Pro895=) c.*2525G>T (n.*2525G>T) c.2356G>T n.2691G>T | |
12 | g.110345327A>C | CA386677450 | ATP2A2 | c.2686A>C (p.Met896Leu) c.*2526A>C (n.*2526A>C) c.2357A>C n.2692A>C | |
12 | g.110345327A>G | CA386677449 | ATP2A2 | c.2686A>G (p.Met896Val) c.*2526A>G (n.*2526A>G) c.2357A>G n.2692A>G | |
12 | g.110345327A>T | CA386677448 | ATP2A2 | c.2686A>T (p.Met896Leu) c.*2526A>T (n.*2526A>T) c.2357A>T n.2692A>T | |
12 | g.110345328T>A | CA386677451 | ATP2A2 | c.2687T>A (p.Met896Lys) c.*2527T>A (n.*2527T>A) c.2358T>A n.2693T>A | |
12 | g.110345328T>C | CA386677452 | ATP2A2 | c.2687T>C (p.Met896Thr) c.*2527T>C (n.*2527T>C) c.2358T>C n.2693T>C | |
12 | g.110345328T>G | CA386677453 | ATP2A2 | c.2687T>G (p.Met896Arg) c.*2527T>G (n.*2527T>G) c.2358T>G n.2693T>G | |
12 | g.110345329G>A | CA386677454 | ATP2A2 | c.2688G>A (p.Met896Ile) c.*2528G>A (n.*2528G>A) c.2359G>A n.2694G>A | |
12 | g.110345329G>C | CA386677455 | ATP2A2 | c.2688G>C (p.Met896Ile) c.*2528G>C (n.*2528G>C) c.2359G>C n.2694G>C | |
12 | g.110345329G>T | CA386677456 | ATP2A2 | c.2688G>T (p.Met896Ile) c.*2528G>T (n.*2528G>T) c.2359G>T n.2694G>T | |
12 | g.110345330A>C | CA386677459 | ATP2A2 | c.2689A>C (p.Thr897Pro) c.*2529A>C (n.*2529A>C) c.2360A>C n.2695A>C | |
12 | g.110345330A>G | CA386677457 | ATP2A2 | c.2689A>G (p.Thr897Ala) c.*2529A>G (n.*2529A>G) c.2360A>G n.2695A>G | gnomAD v4 |
12 | g.110345330A>T | CA386677458 | ATP2A2 | c.2689A>T (p.Thr897Ser) c.*2529A>T (n.*2529A>T) c.2360A>T n.2695A>T | |
12 | g.110345331C>A | CA386677460 | ATP2A2 | c.2690C>A (p.Thr897Lys) c.*2530C>A (n.*2530C>A) c.2361C>A n.2696C>A | |
12 | g.110345331C>G | CA386677461 | ATP2A2 | c.2690C>G (p.Thr897Arg) c.*2530C>G (n.*2530C>G) c.2361C>G n.2696C>G | |
12 | g.110345331C>T | CA386677462 | ATP2A2 | c.2690C>T (p.Thr897Ile) c.*2530C>T (n.*2530C>T) c.2361C>T n.2696C>T | |
12 | g.110345332A= | CA2062809931 | ATP2A2 | c.2691A= (p.Thr897=) c.*2531A= (n.*2531A=) c.2362A= n.2697A= | |
12 | g.110345332A>C | CA481739085 | ATP2A2 | c.2691A>C (p.Thr897=) c.*2531A>C (n.*2531A>C) c.2362A>C n.2697A>C | |
12 | g.110345332A>G | CA6784177 | ATP2A2 | c.2691A>G (p.Thr897=) c.*2531A>G (n.*2531A>G) c.2362A>G n.2697A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110345332A>T | CA481739083 | ATP2A2 | c.2691A>T (p.Thr897=) c.*2531A>T (n.*2531A>T) c.2362A>T n.2697A>T | |
12 | g.110345333A= | CA2062809937 | ATP2A2 | c.2692A= (p.Met898=) c.*2532A= (n.*2532A=) c.2363A= n.2698A= | |
12 | g.110345333A>C | CA386677463 | ATP2A2 | c.2692A>C (p.Met898Leu) c.*2532A>C (n.*2532A>C) c.2363A>C n.2698A>C | |
12 | g.110345333A>G | CA6784178 | ATP2A2 | c.2692A>G (p.Met898Val) c.*2532A>G (n.*2532A>G) c.2363A>G n.2698A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110345333A>T | CA386677464 | ATP2A2 | c.2692A>T (p.Met898Leu) c.*2532A>T (n.*2532A>T) c.2363A>T n.2698A>T | COSMIC |
12 | g.110345334T>A | CA386677465 | ATP2A2 | c.2693T>A (p.Met898Lys) c.*2533T>A (n.*2533T>A) c.2364T>A n.2699T>A | |
12 | g.110345334T>C | CA386677466 | ATP2A2 | c.2693T>C (p.Met898Thr) c.*2533T>C (n.*2533T>C) c.2364T>C n.2699T>C | COSMIC |
12 | g.110345334T>G | CA386677467 | ATP2A2 | c.2693T>G (p.Met898Arg) c.*2533T>G (n.*2533T>G) c.2364T>G n.2699T>G | |
12 | g.110345335G>A | CA386677468 | ATP2A2 | c.2694G>A (p.Met898Ile) c.*2534G>A (n.*2534G>A) c.2365G>A n.2700G>A | |
12 | g.110345335G>C | CA386677469 | ATP2A2 | c.2694G>C (p.Met898Ile) c.*2534G>C (n.*2534G>C) c.2365G>C n.2700G>C | |
12 | g.110345335G>T | CA386677470 | ATP2A2 | c.2694G>T (p.Met898Ile) c.*2534G>T (n.*2534G>T) c.2365G>T n.2700G>T | |
12 | g.110345336G>A | CA386677471 | ATP2A2 | c.2695G>A (p.Ala899Thr) c.*2535G>A (n.*2535G>A) c.2366G>A n.2701G>A | |
12 | g.110345336G>C | CA386677473 | ATP2A2 | c.2695G>C (p.Ala899Pro) c.*2535G>C (n.*2535G>C) c.2366G>C n.2701G>C | |
12 | g.110345336G>T | CA386677472 | ATP2A2 | c.2695G>T (p.Ala899Ser) c.*2535G>T (n.*2535G>T) c.2366G>T n.2701G>T | |
12 | g.110345337C>A | CA386677474 | ATP2A2 | c.2696C>A (p.Ala899Glu) c.*2536C>A (n.*2536C>A) c.2367C>A n.2702C>A | |
12 | g.110345337C>G | CA386677475 | ATP2A2 | c.2696C>G (p.Ala899Gly) c.*2536C>G (n.*2536C>G) c.2367C>G n.2702C>G | |
12 | g.110345337C>T | CA386677476 | ATP2A2 | c.2696C>T (p.Ala899Val) c.*2536C>T (n.*2536C>T) c.2367C>T n.2702C>T | gnomAD v4 |