Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28903043C>A | CA395415428 | ATP2A1 | c.2758C>A (p.Gln920Lys) c.2383C>A (p.Gln795Lys) | |
16 | g.28903043C= | CA2215888992 | ATP2A1 | c.2758C= (p.Gln920=) c.2383C= (p.Gln795=) | |
16 | g.28903043C>G | CA395415429 | ATP2A1 | c.2758C>G (p.Gln920Glu) c.2383C>G (p.Gln795Glu) | gnomAD v4 |
16 | g.28903043C>T | CA16620184 | ATP2A1 | c.2758C>T (p.Gln920Ter) c.2383C>T (p.Gln795Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903044A= | CA2215889000 | ATP2A1 | c.2759A= (p.Gln920=) c.2384A= (p.Gln795=) | |
16 | g.28903044A>C | CA395415430 | ATP2A1 | c.2759A>C (p.Gln920Pro) c.2384A>C (p.Gln795Pro) | |
16 | g.28903044A>G | CA395415431 | ATP2A1 | c.2759A>G (p.Gln920Arg) c.2384A>G (p.Gln795Arg) | dbSNP |
16 | g.28903044A>T | CA395415432 | ATP2A1 | c.2759A>T (p.Gln920Leu) c.2384A>T (p.Gln795Leu) | |
16 | g.28903045G>A | CA494874470 | ATP2A1 | c.2760G>A (p.Gln920=) c.2385G>A (p.Gln795=) | |
16 | g.28903045G>C | CA395415434 | ATP2A1 | c.2760G>C (p.Gln920His) c.2385G>C (p.Gln795His) | |
16 | g.28903045G>T | CA395415433 | ATP2A1 | c.2760G>T (p.Gln920His) c.2385G>T (p.Gln795His) | gnomAD v4 |
16 | g.28903046T>A | CA395415435 | ATP2A1 | c.2761T>A (p.Ser921Thr) c.2386T>A (p.Ser796Thr) | |
16 | g.28903046T>C | CA395415436 | ATP2A1 | c.2761T>C (p.Ser921Pro) c.2386T>C (p.Ser796Pro) | |
16 | g.28903046T>G | CA395415437 | ATP2A1 | c.2761T>G (p.Ser921Ala) c.2386T>G (p.Ser796Ala) | |
16 | g.28903047C>A | CA395415438 | ATP2A1 | c.2762C>A (p.Ser921Tyr) c.2387C>A (p.Ser796Tyr) | |
16 | g.28903047C>G | CA395415439 | ATP2A1 | c.2762C>G (p.Ser921Cys) c.2387C>G (p.Ser796Cys) | |
16 | g.28903047C>T | CA395415440 | ATP2A1 | c.2762C>T (p.Ser921Phe) c.2387C>T (p.Ser796Phe) | ClinVar dbSNP |
16 | g.28903048C>A | CA494874471 | ATP2A1 | c.2763C>A (p.Ser921=) c.2388C>A (p.Ser796=) | |
16 | g.28903048C>G | CA494874472 | ATP2A1 | c.2763C>G (p.Ser921=) c.2388C>G (p.Ser796=) | |
16 | g.28903048C>T | CA494874473 | ATP2A1 | c.2763C>T (p.Ser921=) c.2388C>T (p.Ser796=) | |
16 | g.28903049C>A | CA395415441 | ATP2A1 | c.2764C>A (p.Leu922Met) c.2389C>A (p.Leu797Met) | |
16 | g.28903049C>G | CA395415442 | ATP2A1 | c.2764C>G (p.Leu922Val) c.2389C>G (p.Leu797Val) | |
16 | g.28903049C>T | CA494874474 | ATP2A1 | c.2764C>T (p.Leu922=) c.2389C>T (p.Leu797=) | ClinVar dbSNP |
16 | g.28903050T>A | CA395415443 | ATP2A1 | c.2765T>A (p.Leu922Gln) c.2390T>A (p.Leu797Gln) | |
16 | g.28903050T>C | CA395415444 | ATP2A1 | c.2765T>C (p.Leu922Pro) c.2390T>C (p.Leu797Pro) | dbSNP gnomAD v4 |
16 | g.28903050T>G | CA395415445 | ATP2A1 | c.2765T>G (p.Leu922Arg) c.2390T>G (p.Leu797Arg) | |
16 | g.28903050T= | CA2215889003 | ATP2A1 | c.2765T= (p.Leu922=) c.2390T= (p.Leu797=) | |
16 | g.28903051G>A | CA494874477 | ATP2A1 | c.2766G>A (p.Leu922=) c.2391G>A (p.Leu797=) | |
16 | g.28903051G>C | CA494874476 | ATP2A1 | c.2766G>C (p.Leu922=) c.2391G>C (p.Leu797=) | |
16 | g.28903051G>T | CA494874475 | ATP2A1 | c.2766G>T (p.Leu922=) c.2391G>T (p.Leu797=) | |
16 | g.28903052C>A | CA395415446 | ATP2A1 | c.2767C>A (p.Leu923Met) c.2392C>A (p.Leu798Met) | |
16 | g.28903052C>G | CA395415447 | ATP2A1 | c.2767C>G (p.Leu923Val) c.2392C>G (p.Leu798Val) | |
16 | g.28903052C>T | CA494874478 | ATP2A1 | c.2767C>T (p.Leu923=) c.2392C>T (p.Leu798=) | |
16 | g.28903053T>A | CA7987400 | ATP2A1 | c.2768T>A (p.Leu923Gln) c.2393T>A (p.Leu798Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28903053T>C | CA395415449 | ATP2A1 | c.2768T>C (p.Leu923Pro) c.2393T>C (p.Leu798Pro) | |
16 | g.28903053T>G | CA395415448 | ATP2A1 | c.2768T>G (p.Leu923Arg) c.2393T>G (p.Leu798Arg) | |
16 | g.28903053T= | CA2215889007 | ATP2A1 | c.2768T= (p.Leu923=) c.2393T= (p.Leu798=) | |
16 | g.28903054G>A | CA494874479 | ATP2A1 | c.2769G>A (p.Leu923=) c.2394G>A (p.Leu798=) | |
16 | g.28903054G>C | CA494874480 | ATP2A1 | c.2769G>C (p.Leu923=) c.2394G>C (p.Leu798=) | |
16 | g.28903054G>T | CA494874481 | ATP2A1 | c.2769G>T (p.Leu923=) c.2394G>T (p.Leu798=) | |
16 | g.28903055_28903056dup | CA719742701 | ATP2A1 | c.2770_2771dup (p.Met925GlyfsTer6) c.2395_2396dup (p.Met800GlyfsTer6) | dbSNP |
16 | g.28903055C>A | CA494874482 | ATP2A1 | c.2770C>A (p.Arg924=) c.2395C>A (p.Arg799=) | |
16 | g.28903055C= | CA2215889013 | ATP2A1 | c.2770C= (p.Arg924=) c.2395C= (p.Arg799=) | |
16 | g.28903055C>G | CA395415450 | ATP2A1 | c.2770C>G (p.Arg924Gly) c.2395C>G (p.Arg799Gly) | |
16 | g.28903055C>T | CA395415451 | ATP2A1 | c.2770C>T (p.Arg924Trp) c.2395C>T (p.Arg799Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.28903056G>A | CA7987401 | ATP2A1 | c.2771G>A (p.Arg924Gln) c.2396G>A (p.Arg799Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28903056G>C | CA395415452 | ATP2A1 | c.2771G>C (p.Arg924Pro) c.2396G>C (p.Arg799Pro) | |
16 | g.28903056G= | CA2215889019 | ATP2A1 | c.2771G= (p.Arg924=) c.2396G= (p.Arg799=) | |
16 | g.28903056G>T | CA395415453 | ATP2A1 | c.2771G>T (p.Arg924Leu) c.2396G>T (p.Arg799Leu) | |
16 | g.28903057del | CA2632541355 | ATP2A1 | c.2772del (p.Met925CysfsTer5) c.2397del (p.Met800CysfsTer5) | gnomAD v4 |