Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28902862_28902865dup | CA2215888576 | ATP2A1 | c.2695_2698dup (p.Ala900AspfsTer?) c.2320_2323dup (p.Ala775AspfsTer?) | dbSNP |
16 | g.28902865G>A | CA395415288 | ATP2A1 | c.2698G>A (p.Ala900Thr) c.2323G>A (p.Ala775Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28902865G>C | CA395415289 | ATP2A1 | c.2698G>C (p.Ala900Pro) c.2323G>C (p.Ala775Pro) | |
16 | g.28902865G= | CA2215888584 | ATP2A1 | c.2698G= (p.Ala900=) c.2323G= (p.Ala775=) | |
16 | g.28902865G>T | CA395415290 | ATP2A1 | c.2698G>T (p.Ala900Ser) c.2323G>T (p.Ala775Ser) | |
16 | g.28902866C>A | CA395415291 | ATP2A1 | c.2699C>A (p.Ala900Asp) c.2324C>A (p.Ala775Asp) | |
16 | g.28902866C>G | CA395415292 | ATP2A1 | c.2699C>G (p.Ala900Gly) c.2324C>G (p.Ala775Gly) | |
16 | g.28902866C>T | CA395415293 | ATP2A1 | c.2699C>T (p.Ala900Val) c.2324C>T (p.Ala775Val) | |
16 | g.28902867C>A | CA494874644 | ATP2A1 | c.2700C>A (p.Ala900=) c.2325C>A (p.Ala775=) | |
16 | g.28902867C= | CA2215888585 | ATP2A1 | c.2700C= (p.Ala900=) c.2325C= (p.Ala775=) | |
16 | g.28902867C>G | CA494874645 | ATP2A1 | c.2700C>G (p.Ala900=) c.2325C>G (p.Ala775=) | dbSNP |
16 | g.28902867C>T | CA7987355 | ATP2A1 | c.2700C>T (p.Ala900=) c.2325C>T (p.Ala775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902868C>A | CA395415295 | ATP2A1 | c.2701C>A (p.Leu901Met) c.2326C>A (p.Leu776Met) | COSMIC COSMIC |
16 | g.28902868C= | CA2215888588 | ATP2A1 | c.2701C= (p.Leu901=) c.2326C= (p.Leu776=) | |
16 | g.28902868C>G | CA395415294 | ATP2A1 | c.2701C>G (p.Leu901Val) c.2326C>G (p.Leu776Val) | |
16 | g.28902868C>T | CA494874646 | ATP2A1 | c.2701C>T (p.Leu901=) c.2326C>T (p.Leu776=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28902869T>A | CA395415296 | ATP2A1 | c.2702T>A (p.Leu901Gln) c.2327T>A (p.Leu776Gln) | |
16 | g.28902869T>C | CA395415297 | ATP2A1 | c.2702T>C (p.Leu901Pro) c.2327T>C (p.Leu776Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902869T>G | CA395415298 | ATP2A1 | c.2702T>G (p.Leu901Arg) c.2327T>G (p.Leu776Arg) | |
16 | g.28902869T= | CA2215888591 | ATP2A1 | c.2702T= (p.Leu901=) c.2327T= (p.Leu776=) | |
16 | g.28902870G>A | CA494874647 | ATP2A1 | c.2703G>A (p.Leu901=) c.2328G>A (p.Leu776=) | |
16 | g.28902870G>C | CA494874648 | ATP2A1 | c.2703G>C (p.Leu901=) c.2328G>C (p.Leu776=) | |
16 | g.28902870G>T | CA494874649 | ATP2A1 | c.2703G>T (p.Leu901=) c.2328G>T (p.Leu776=) | |
16 | g.28902871T>A | CA395415299 | ATP2A1 | c.2704T>A (p.Ser902Thr) c.2329T>A (p.Ser777Thr) | gnomAD v4 |
16 | g.28902871T>C | CA395415300 | ATP2A1 | c.2704T>C (p.Ser902Pro) c.2329T>C (p.Ser777Pro) | |
16 | g.28902871T>G | CA395415301 | ATP2A1 | c.2704T>G (p.Ser902Ala) c.2329T>G (p.Ser777Ala) | |
16 | g.28902872C>A | CA395415302 | ATP2A1 | c.2705C>A (p.Ser902Tyr) c.2330C>A (p.Ser777Tyr) | |
16 | g.28902872C>G | CA395415303 | ATP2A1 | c.2705C>G (p.Ser902Cys) c.2330C>G (p.Ser777Cys) | |
16 | g.28902872C>T | CA395415304 | ATP2A1 | c.2705C>T (p.Ser902Phe) c.2330C>T (p.Ser777Phe) | |
16 | g.28902873C>A | CA494874652 | ATP2A1 | c.2706C>A (p.Ser902=) c.2331C>A (p.Ser777=) | |
16 | g.28902873C= | CA2215888595 | ATP2A1 | c.2706C= (p.Ser902=) c.2331C= (p.Ser777=) | |
16 | g.28902873C>G | CA494874653 | ATP2A1 | c.2706C>G (p.Ser902=) c.2331C>G (p.Ser777=) | |
16 | g.28902873C>T | CA7987356 | ATP2A1 | c.2706C>T (p.Ser902=) c.2331C>T (p.Ser777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902874G>A | CA7987357 | ATP2A1 | c.2707G>A (p.Val903Met) c.2332G>A (p.Val778Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28902874G>C | CA395415305 | ATP2A1 | c.2707G>C (p.Val903Leu) c.2332G>C (p.Val778Leu) | |
16 | g.28902874G= | CA2215888599 | ATP2A1 | c.2707G= (p.Val903=) c.2332G= (p.Val778=) | |
16 | g.28902874G>T | CA395415306 | ATP2A1 | c.2707G>T (p.Val903Leu) c.2332G>T (p.Val778Leu) | |
16 | g.28902875T>A | CA395415307 | ATP2A1 | c.2708T>A (p.Val903Glu) c.2333T>A (p.Val778Glu) | |
16 | g.28902875T>C | CA395415309 | ATP2A1 | c.2708T>C (p.Val903Ala) c.2333T>C (p.Val778Ala) | gnomAD v4 |
16 | g.28902875T>G | CA395415308 | ATP2A1 | c.2708T>G (p.Val903Gly) c.2333T>G (p.Val778Gly) | |
16 | g.28902876G>A | CA494874657 | ATP2A1 | c.2709G>A (p.Val903=) c.2334G>A (p.Val778=) | |
16 | g.28902876G>C | CA494874658 | ATP2A1 | c.2709G>C (p.Val903=) c.2334G>C (p.Val778=) | dbSNP |
16 | g.28902876G= | CA2215888602 | ATP2A1 | c.2709G= (p.Val903=) c.2334G= (p.Val778=) | |
16 | g.28902876G>T | CA494874659 | ATP2A1 | c.2709G>T (p.Val903=) c.2334G>T (p.Val778=) | |
16 | g.28902877C>A | CA395415310 | ATP2A1 | c.2710C>A (p.Leu904Met) c.2335C>A (p.Leu779Met) | |
16 | g.28902877C= | CA2215888606 | ATP2A1 | c.2710C= (p.Leu904=) c.2335C= (p.Leu779=) | |
16 | g.28902877C>G | CA7987358 | ATP2A1 | c.2710C>G (p.Leu904Val) c.2335C>G (p.Leu779Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28902877C>T | CA494874662 | ATP2A1 | c.2710C>T (p.Leu904=) c.2335C>T (p.Leu779=) | |
16 | g.28902878T>A | CA395415311 | ATP2A1 | c.2711T>A (p.Leu904Gln) c.2336T>A (p.Leu779Gln) | |
16 | g.28902878T>C | CA395415312 | ATP2A1 | c.2711T>C (p.Leu904Pro) c.2336T>C (p.Leu779Pro) |