UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28902859A= | CA2215888570 | ATP2A1 | c.2692A= (p.Thr898=) c.2317A= (p.Thr773=) | |
| 16 | g.28902859A>C | CA395415274 | ATP2A1 | c.2692A>C (p.Thr898Pro) c.2317A>C (p.Thr773Pro) | |
| 16 | g.28902859A>G | CA395415275 | ATP2A1 | c.2692A>G (p.Thr898Ala) c.2317A>G (p.Thr773Ala) | |
| 16 | g.28902859A>T | CA395415276 | ATP2A1 | c.2692A>T (p.Thr898Ser) c.2317A>T (p.Thr773Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902860C>A | CA395415277 | ATP2A1 | c.2693C>A (p.Thr898Asn) c.2318C>A (p.Thr773Asn) | |
| 16 | g.28902860C>G | CA395415278 | ATP2A1 | c.2693C>G (p.Thr898Ser) c.2318C>G (p.Thr773Ser) | |
| 16 | g.28902860C>T | CA395415279 | ATP2A1 | c.2693C>T (p.Thr898Ile) c.2318C>T (p.Thr773Ile) | |
| 16 | g.28902861C>A | CA494874637 | ATP2A1 | c.2694C>A (p.Thr898=) c.2319C>A (p.Thr773=) | dbSNP |
| 16 | g.28902861C= | CA2215888572 | ATP2A1 | c.2694C= (p.Thr898=) c.2319C= (p.Thr773=) | |
| 16 | g.28902861C>G | CA494874638 | ATP2A1 | c.2694C>G (p.Thr898=) c.2319C>G (p.Thr773=) | |
| 16 | g.28902861C>T | CA494874639 | ATP2A1 | c.2694C>T (p.Thr898=) c.2319C>T (p.Thr773=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28902862A= | CA2215888578 | ATP2A1 | c.2695A= (p.Met899=) c.2320A= (p.Met774=) | |
| 16 | g.28902862A>C | CA395415281 | ATP2A1 | c.2695A>C (p.Met899Leu) c.2320A>C (p.Met774Leu) | |
| 16 | g.28902862A>G | CA7987354 | ATP2A1 | c.2695A>G (p.Met899Val) c.2320A>G (p.Met774Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902862A>T | CA395415280 | ATP2A1 | c.2695A>T (p.Met899Leu) c.2320A>T (p.Met774Leu) | |
| 16 | g.28902862_28902865dup | CA2215888576 | ATP2A1 | c.2695_2698dup (p.Ala900AspfsTer?) c.2320_2323dup (p.Ala775AspfsTer?) | dbSNP |
| 16 | g.28902863T>A | CA395415282 | ATP2A1 | c.2696T>A (p.Met899Lys) c.2321T>A (p.Met774Lys) | |
| 16 | g.28902863T>C | CA395415283 | ATP2A1 | c.2696T>C (p.Met899Thr) c.2321T>C (p.Met774Thr) | gnomAD v4 |
| 16 | g.28902863T>G | CA395415284 | ATP2A1 | c.2696T>G (p.Met899Arg) c.2321T>G (p.Met774Arg) | |
| 16 | g.28902864G>A | CA395415285 | ATP2A1 | c.2697G>A (p.Met899Ile) c.2322G>A (p.Met774Ile) | |
| 16 | g.28902864G>C | CA395415286 | ATP2A1 | c.2697G>C (p.Met899Ile) c.2322G>C (p.Met774Ile) | |
| 16 | g.28902864G= | CA2215888581 | ATP2A1 | c.2697G= (p.Met899=) c.2322G= (p.Met774=) | |
| 16 | g.28902864G>T | CA395415287 | ATP2A1 | c.2697G>T (p.Met899Ile) c.2322G>T (p.Met774Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 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) | |
| 16 | g.28902878T>G | CA395415313 | ATP2A1 | c.2711T>G (p.Leu904Arg) c.2336T>G (p.Leu779Arg) | |
| 16 | g.28902879G>A | CA494874664 | ATP2A1 | c.2712G>A (p.Leu904=) c.2337G>A (p.Leu779=) | gnomAD v4 |
| 16 | g.28902879G>C | CA494874665 | ATP2A1 | c.2712G>C (p.Leu904=) c.2337G>C (p.Leu779=) | dbSNP |
| 16 | g.28902879G= | CA2215888611 | ATP2A1 | c.2712G= (p.Leu904=) c.2337G= (p.Leu779=) | |
| 16 | g.28902879G>T | CA494874666 | ATP2A1 | c.2712G>T (p.Leu904=) c.2337G>T (p.Leu779=) | |
| 16 | g.28902880G>A | CA395415314 | ATP2A1 | c.2713G>A (p.Val905Met) c.2338G>A (p.Val780Met) | |
| 16 | g.28902880G>C | CA395415315 | ATP2A1 | c.2713G>C (p.Val905Leu) c.2338G>C (p.Val780Leu) | |
| 16 | g.28902880G>T | CA395415316 | ATP2A1 | c.2713G>T (p.Val905Leu) c.2338G>T (p.Val780Leu) | |
| 16 | g.28902881T>A | CA395415317 | ATP2A1 | c.2714T>A (p.Val905Glu) c.2339T>A (p.Val780Glu) | |
| 16 | g.28902881T>C | CA395415318 | ATP2A1 | c.2714T>C (p.Val905Ala) c.2339T>C (p.Val780Ala) | |
| 16 | g.28902881T>G | CA395415319 | ATP2A1 | c.2714T>G (p.Val905Gly) c.2339T>G (p.Val780Gly) | |
| 16 | g.28902882G>A | CA494874671 | ATP2A1 | c.2715G>A (p.Val905=) c.2340G>A (p.Val780=) | |
| 16 | g.28902882G>C | CA494874670 | ATP2A1 | c.2715G>C (p.Val905=) c.2340G>C (p.Val780=) | dbSNP |
| 16 | g.28902882G= | CA2215888615 | ATP2A1 | c.2715G= (p.Val905=) c.2340G= (p.Val780=) | |
| 16 | g.28902882G>T | CA494874669 | ATP2A1 | c.2715G>T (p.Val905=) c.2340G>T (p.Val780=) | |
| 16 | g.28902883A= | CA2215888621 | ATP2A1 | c.2716A= (p.Thr906=) c.2341A= (p.Thr781=) | |
| 16 | g.28902883A>C | CA7987359 | ATP2A1 | c.2716A>C (p.Thr906Pro) c.2341A>C (p.Thr781Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902883A>G | CA395415320 | ATP2A1 | c.2716A>G (p.Thr906Ala) c.2341A>G (p.Thr781Ala) | |
| 16 | g.28902883A>T | CA395415321 | ATP2A1 | c.2716A>T (p.Thr906Ser) c.2341A>T (p.Thr781Ser) | |
| 16 | g.28902884C>A | CA395415324 | ATP2A1 | c.2717C>A (p.Thr906Asn) c.2342C>A (p.Thr781Asn) | |
| 16 | g.28902884C>G | CA395415322 | ATP2A1 | c.2717C>G (p.Thr906Ser) c.2342C>G (p.Thr781Ser) | |
| 16 | g.28902884C>T | CA395415323 | ATP2A1 | c.2717C>T (p.Thr906Ile) c.2342C>T (p.Thr781Ile) | gnomAD v4 |
| 16 | g.28902885dup | CA2632541314 | ATP2A1 | c.2718dup (p.Ile907HisfsTer?) c.2343dup (p.Ile782HisfsTer?) | gnomAD v4 |
| 16 | g.28902885C>A | CA494874675 | ATP2A1 | c.2718C>A (p.Thr906=) c.2343C>A (p.Thr781=) | |
| 16 | g.28902885C= | CA2215888626 | ATP2A1 | c.2718C= (p.Thr906=) c.2343C= (p.Thr781=) | |
| 16 | g.28902885C>G | CA494874676 | ATP2A1 | c.2718C>G (p.Thr906=) c.2343C>G (p.Thr781=) | |
| 16 | g.28902885C>T | CA494874677 | ATP2A1 | c.2718C>T (p.Thr906=) c.2343C>T (p.Thr781=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28902886A>C | CA395415325 | ATP2A1 | c.2719A>C (p.Ile907Leu) c.2344A>C (p.Ile782Leu) | |
| 16 | g.28902886A>G | CA395415326 | ATP2A1 | c.2719A>G (p.Ile907Val) c.2344A>G (p.Ile782Val) | gnomAD v4 |
| 16 | g.28902886A>T | CA395415327 | ATP2A1 | c.2719A>T (p.Ile907Phe) c.2344A>T (p.Ile782Phe) | |
| 16 | g.28902887T>A | CA395415328 | ATP2A1 | c.2720T>A (p.Ile907Asn) c.2345T>A (p.Ile782Asn) | |
| 16 | g.28902887T>C | CA395415329 | ATP2A1 | c.2720T>C (p.Ile907Thr) c.2345T>C (p.Ile782Thr) | gnomAD v4 |
| 16 | g.28902887T>G | CA395415330 | ATP2A1 | c.2720T>G (p.Ile907Ser) c.2345T>G (p.Ile782Ser) | |
| 16 | g.28902887_28902888insGG | CA2632541315 | ATP2A1 | c.2720_2721insGG (p.Ile907MetfsTer8) c.2345_2346insGG (p.Ile782MetfsTer8) | gnomAD v4 |
| 16 | g.28902888C>A | CA494874682 | ATP2A1 | c.2721C>A (p.Ile907=) c.2346C>A (p.Ile782=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28902888C= | CA2215888633 | ATP2A1 | c.2721C= (p.Ile907=) c.2346C= (p.Ile782=) | |
| 16 | g.28902888C>G | CA7987361 | ATP2A1 | c.2721C>G (p.Ile907Met) c.2346C>G (p.Ile782Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902888C>T | CA7987360 | ATP2A1 | c.2721C>T (p.Ile907=) c.2346C>T (p.Ile782=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.28902888_28902889insCCTGTCCGTGCTGGT | CA2632541316 | ATP2A1 | c.2721_2722insCCTGTCCGTGCTGGT (p.Ile907_Glu908insProValArgAlaGly) c.2346_2347insCCTGTCCGTGCTGGT (p.Ile782_Glu783insProValArgAlaGly) | gnomAD v4 |
| 16 | g.28902889G>A | CA7987362 | ATP2A1 | c.2722G>A (p.Glu908Lys) c.2347G>A (p.Glu783Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.28902889G>C | CA7987363 | ATP2A1 | c.2722G>C (p.Glu908Gln) c.2347G>C (p.Glu783Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902889G= | CA2215888641 | ATP2A1 | c.2722G= (p.Glu908=) c.2347G= (p.Glu783=) | |
| 16 | g.28902889G>T | CA395415331 | ATP2A1 | c.2722G>T (p.Glu908Ter) c.2347G>T (p.Glu783Ter) | |
| 16 | g.28902890A>C | CA395415334 | ATP2A1 | c.2723A>C (p.Glu908Ala) c.2348A>C (p.Glu783Ala) | |
| 16 | g.28902890A>G | CA395415333 | ATP2A1 | c.2723A>G (p.Glu908Gly) c.2348A>G (p.Glu783Gly) | |
| 16 | g.28902890A>T | CA395415332 | ATP2A1 | c.2723A>T (p.Glu908Val) c.2348A>T (p.Glu783Val) | |
| 16 | g.28902891G>A | CA494874686 | ATP2A1 | c.2724G>A (p.Glu908=) c.2349G>A (p.Glu783=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28902891G>C | CA395415335 | ATP2A1 | c.2724G>C (p.Glu908Asp) c.2349G>C (p.Glu783Asp) | |
| 16 | g.28902891G= | CA2215888644 | ATP2A1 | c.2724G= (p.Glu908=) c.2349G= (p.Glu783=) | |
| 16 | g.28902891G>T | CA395415336 | ATP2A1 | c.2724G>T (p.Glu908Asp) c.2349G>T (p.Glu783Asp) | gnomAD v4 |
| 16 | g.28902892A>C | CA395415337 | ATP2A1 | c.2725A>C (p.Met909Leu) c.2350A>C (p.Met784Leu) | |
| 16 | g.28902892A>G | CA395415338 | ATP2A1 | c.2725A>G (p.Met909Val) c.2350A>G (p.Met784Val) | |
| 16 | g.28902892A>T | CA395415339 | ATP2A1 | c.2725A>T (p.Met909Leu) c.2350A>T (p.Met784Leu) | |
| 16 | g.28902893T>A | CA395415342 | ATP2A1 | c.2726T>A (p.Met909Lys) c.2351T>A (p.Met784Lys) | |
| 16 | g.28902893T>C | CA395415341 | ATP2A1 | c.2726T>C (p.Met909Thr) c.2351T>C (p.Met784Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902893T>G | CA395415340 | ATP2A1 | c.2726T>G (p.Met909Arg) c.2351T>G (p.Met784Arg) | |
| 16 | g.28902893T= | CA2215888647 | ATP2A1 | c.2726T= (p.Met909=) c.2351T= (p.Met784=) | |
| 16 | g.28902894G>A | CA395415343 | ATP2A1 | c.2727G>A (p.Met909Ile) c.2352G>A (p.Met784Ile) | gnomAD v4 |
| 16 | g.28902894G>C | CA395415344 | ATP2A1 | c.2727G>C (p.Met909Ile) c.2352G>C (p.Met784Ile) | |
| 16 | g.28902894G>T | CA395415345 | ATP2A1 | c.2727G>T (p.Met909Ile) c.2352G>T (p.Met784Ile) | |
| 16 | g.28902895T>A | CA395415346 | ATP2A1 | c.2728T>A (p.Cys910Ser) c.2353T>A (p.Cys785Ser) | |
| 16 | g.28902895T>C | CA395415347 | ATP2A1 | c.2728T>C (p.Cys910Arg) c.2353T>C (p.Cys785Arg) | |
| 16 | g.28902895T>G | CA395415348 | ATP2A1 | c.2728T>G (p.Cys910Gly) c.2353T>G (p.Cys785Gly) | |
| 16 | g.28902896G>A | CA395415349 | ATP2A1 | c.2729G>A (p.Cys910Tyr) c.2354G>A (p.Cys785Tyr) | |
| 16 | g.28902896G>C | CA395415351 | ATP2A1 | c.2729G>C (p.Cys910Ser) c.2354G>C (p.Cys785Ser) | |
| 16 | g.28902896G= | CA2215888650 | ATP2A1 | c.2729G= (p.Cys910=) c.2354G= (p.Cys785=) | |
| 16 | g.28902896G>T | CA395415350 | ATP2A1 | c.2729G>T (p.Cys910Phe) c.2354G>T (p.Cys785Phe) | dbSNP |
| 16 | g.28902897C>A | CA395415352 | ATP2A1 | c.2730C>A (p.Cys910Ter) c.2355C>A (p.Cys785Ter) | |
| 16 | g.28902897C>G | CA395415353 | ATP2A1 | c.2730C>G (p.Cys910Trp) c.2355C>G (p.Cys785Trp) | |
| 16 | g.28902897C>T | CA494874690 | ATP2A1 | c.2730C>T (p.Cys910=) c.2355C>T (p.Cys785=) | |
| 16 | g.28902898A>C | CA395415354 | ATP2A1 | c.2731A>C (p.Asn911His) c.2356A>C (p.Asn786His) | |
| 16 | g.28902898A>G | CA395415355 | ATP2A1 | c.2731A>G (p.Asn911Asp) c.2356A>G (p.Asn786Asp) | gnomAD v4 |
| 16 | g.28902898A>T | CA395415356 | ATP2A1 | c.2731A>T (p.Asn911Tyr) c.2356A>T (p.Asn786Tyr) | |
| 16 | g.28902899A= | CA2215888652 | ATP2A1 | c.2732A= (p.Asn911=) c.2357A= (p.Asn786=) | |
| 16 | g.28902899A>C | CA395415357 | ATP2A1 | c.2732A>C (p.Asn911Thr) c.2357A>C (p.Asn786Thr) | |
| 16 | g.28902899A>G | CA395415358 | ATP2A1 | c.2732A>G (p.Asn911Ser) c.2357A>G (p.Asn786Ser) | |
| 16 | g.28902899A>T | CA395415359 | ATP2A1 | c.2732A>T (p.Asn911Ile) c.2357A>T (p.Asn786Ile) | |
| 16 | g.28902900T>A | CA395415360 | ATP2A1 | c.2733T>A (p.Asn911Lys) c.2358T>A (p.Asn786Lys) | |
| 16 | g.28902900T>C | CA494874692 | ATP2A1 | c.2733T>C (p.Asn911=) c.2358T>C (p.Asn786=) | dbSNP |
| 16 | g.28902900T>G | CA395415361 | ATP2A1 | c.2733T>G (p.Asn911Lys) c.2358T>G (p.Asn786Lys) | |
| 16 | g.28902900T= | CA2215888655 | ATP2A1 | c.2733T= (p.Asn911=) c.2358T= (p.Asn786=) | |
| 16 | g.28902900dup | CA622162562 | ATP2A1 | c.2733dup (p.Ala912CysfsTer?) c.2358dup (p.Ala787CysfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902901G>A | CA395415364 | ATP2A1 | c.2734G>A (p.Ala912Thr) c.2359G>A (p.Ala787Thr) | |
| 16 | g.28902901G>C | CA395415363 | ATP2A1 | c.2734G>C (p.Ala912Pro) c.2359G>C (p.Ala787Pro) | |
| 16 | g.28902901G>T | CA395415362 | ATP2A1 | c.2734G>T (p.Ala912Ser) c.2359G>T (p.Ala787Ser) | |
| 16 | g.28902902C>A | CA395415365 | ATP2A1 | c.2735C>A (p.Ala912Glu) c.2360C>A (p.Ala787Glu) | |
| 16 | g.28902902C= | CA2215888657 | ATP2A1 | c.2735C= (p.Ala912=) c.2360C= (p.Ala787=) | |
| 16 | g.28902902C>G | CA395415367 | ATP2A1 | c.2735C>G (p.Ala912Gly) c.2360C>G (p.Ala787Gly) | |
| 16 | g.28902902C>T | CA395415366 | ATP2A1 | c.2735C>T (p.Ala912Val) c.2360C>T (p.Ala787Val) | dbSNP gnomAD v2 |
| 16 | g.28902903A>C | CA494874698 | ATP2A1 | c.2736A>C (p.Ala912=) c.2361A>C (p.Ala787=) | |
| 16 | g.28902903A>G | CA494874697 | ATP2A1 | c.2736A>G (p.Ala912=) c.2361A>G (p.Ala787=) | |
| 16 | g.28902903A>T | CA494874696 | ATP2A1 | c.2736A>T (p.Ala912=) c.2361A>T (p.Ala787=) | |
| 16 | g.28902904C>A | CA395415368 | ATP2A1 | c.2737C>A (p.Leu913Met) c.2362C>A (p.Leu788Met) | |
| 16 | g.28902904C= | CA2215888660 | ATP2A1 | c.2737C= (p.Leu913=) c.2362C= (p.Leu788=) | |
| 16 | g.28902904C>G | CA395415369 | ATP2A1 | c.2737C>G (p.Leu913Val) c.2362C>G (p.Leu788Val) | dbSNP |
| 16 | g.28902904C>T | CA494874701 | ATP2A1 | c.2737C>T (p.Leu913=) c.2362C>T (p.Leu788=) | |
| 16 | g.28902905T>A | CA395415370 | ATP2A1 | c.2738T>A (p.Leu913Gln) c.2363T>A (p.Leu788Gln) | |
| 16 | g.28902905T>C | CA395415371 | ATP2A1 | c.2738T>C (p.Leu913Pro) c.2363T>C (p.Leu788Pro) | |
| 16 | g.28902905T>G | CA395415372 | ATP2A1 | c.2738T>G (p.Leu913Arg) c.2363T>G (p.Leu788Arg) | |
| 16 | g.28902906G>A | CA494874703 | ATP2A1 | c.2739G>A (p.Leu913=) c.2364G>A (p.Leu788=) | |
| 16 | g.28902906G>C | CA494874704 | ATP2A1 | c.2739G>C (p.Leu913=) c.2364G>C (p.Leu788=) | |
| 16 | g.28902906G>T | CA494874705 | ATP2A1 | c.2739G>T (p.Leu913=) c.2364G>T (p.Leu788=) | |
| 16 | g.28902907A>C | CA395415373 | ATP2A1 | c.2740A>C (p.Asn914His) c.2365A>C (p.Asn789His) | |
| 16 | g.28902907A>G | CA395415374 | ATP2A1 | c.2740A>G (p.Asn914Asp) c.2365A>G (p.Asn789Asp) | |
| 16 | g.28902907A>T | CA395415375 | ATP2A1 | c.2740A>T (p.Asn914Tyr) c.2365A>T (p.Asn789Tyr) | |
| 16 | g.28902908A>C | CA395415376 | ATP2A1 | c.2741A>C (p.Asn914Thr) c.2366A>C (p.Asn789Thr) | |
| 16 | g.28902908A>G | CA395415377 | ATP2A1 | c.2741A>G (p.Asn914Ser) c.2366A>G (p.Asn789Ser) | COSMIC COSMIC |
| 16 | g.28902908A>T | CA395415378 | ATP2A1 | c.2741A>T (p.Asn914Ile) c.2366A>T (p.Asn789Ile) | |
| 16 | g.28902909C>A | CA395415379 | ATP2A1 | c.2742C>A (p.Asn914Lys) c.2367C>A (p.Asn789Lys) | |
| 16 | g.28902909C= | CA2215888663 | ATP2A1 | c.2742C= (p.Asn914=) c.2367C= (p.Asn789=) | |
| 16 | g.28902909C>G | CA395415380 | ATP2A1 | c.2742C>G (p.Asn914Lys) c.2367C>G (p.Asn789Lys) | dbSNP |
| 16 | g.28902909C>T | CA494874461 | ATP2A1 | c.2742C>T (p.Asn914=) c.2367C>T (p.Asn789=) | |
| 16 | g.28902910A>C | CA395415383 | ATP2A1 | c.2743A>C (p.Ser915Arg) c.2368A>C (p.Ser790Arg) | |
| 16 | g.28902910A>G | CA395415382 | ATP2A1 | c.2743A>G (p.Ser915Gly) c.2368A>G (p.Ser790Gly) | |
| 16 | g.28902910A>T | CA395415381 | ATP2A1 | c.2743A>T (p.Ser915Cys) c.2368A>T (p.Ser790Cys) | |
| 16 | g.28902911G>A | CA395415384 | ATP2A1 | c.2744G>A (p.Ser915Asn) c.2369G>A (p.Ser790Asn) | gnomAD v4 COSMIC COSMIC |
| 16 | g.28902911G>C | CA395415385 | ATP2A1 | c.2744G>C (p.Ser915Thr) c.2369G>C (p.Ser790Thr) | |
| 16 | g.28902911G>T | CA395415386 | ATP2A1 | c.2744G>T (p.Ser915Ile) c.2369G>T (p.Ser790Ile) | |
| 16 | g.28902912G>A | CA395415387 | ATP2A1 | c.2744+1G>A (n.2744+1G>A) c.2369+1G>A (n.2369+1G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.28902912G>C | CA279244525 | ATP2A1 | c.2744+1G>C (n.2744+1G>C) c.2369+1G>C (n.2369+1G>C) | dbSNP |
| 16 | g.28902912G= | CA2215888670 | ATP2A1 | c.2744+1G= (n.2744+1G=) c.2369+1G= (n.2369+1G=) | |
| 16 | g.28902912G>T | CA395415388 | ATP2A1 | c.2744+1G>T (n.2744+1G>T) c.2369+1G>T (n.2369+1G>T) | |
| 16 | g.28902913T>A | CA395415389 | ATP2A1 | c.2744+2T>A (n.2744+2T>A) c.2369+2T>A (n.2369+2T>A) | |
| 16 | g.28902913T>C | CA395415390 | ATP2A1 | c.2744+2T>C (n.2744+2T>C) c.2369+2T>C (n.2369+2T>C) | gnomAD v4 |
| 16 | g.28902913T>G | CA395415391 | ATP2A1 | c.2744+2T>G (n.2744+2T>G) c.2369+2T>G (n.2369+2T>G) | |
| 16 | g.28902913_28902914delinsTG | CA2215888673 | ATP2A1 | c.2744+2_2744+3delinsTG (n.2744+2_2744+3delinsTG) c.2369+2_2369+3delinsTG (n.2369+2_2369+3delinsTG) | |
| 16 | g.28902914G>A | CA7987365 | ATP2A1 | c.2744+3G>A (n.2744+3G>A) c.2369+3G>A (n.2369+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902914G= | CA2215888677 | ATP2A1 | c.2744+3G= (n.2744+3G=) c.2369+3G= (n.2369+3G=) | |
| 16 | g.28902918del | CA7987364 | ATP2A1 | c.2744+7del (n.2744+7del) c.2369+7del (n.2369+7del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 16 | g.28902915G>A | CA7987366 | ATP2A1 | c.2744+4G>A (n.2744+4G>A) c.2369+4G>A (n.2369+4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902915G= | CA2215888682 | ATP2A1 | c.2744+4G= (n.2744+4G=) c.2369+4G= (n.2369+4G=) | |
| 16 | g.28902916G>A | CA7987367 | ATP2A1 | c.2744+5G>A (n.2744+5G>A) c.2369+5G>A (n.2369+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902916G= | CA2215888685 | ATP2A1 | c.2744+5G= (n.2744+5G=) c.2369+5G= (n.2369+5G=) | |
| 16 | g.28902917G>C | CA719742564 | ATP2A1 | c.2744+6G>C (n.2744+6G>C) c.2369+6G>C (n.2369+6G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28902917G= | CA2215888687 | ATP2A1 | c.2744+6G= (n.2744+6G=) c.2369+6G= (n.2369+6G=) | |
| 16 | g.28902918G>A | CA7987369 | ATP2A1 | c.2744+7G>A (n.2744+7G>A) c.2369+7G>A (n.2369+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902918G= | CA2215888688 | ATP2A1 | c.2744+7G= (n.2744+7G=) c.2369+7G= (n.2369+7G=) | |
| 16 | g.28902919C>A | CA2632541318 | ATP2A1 | c.2744+8C>A (n.2744+8C>A) c.2369+8C>A (n.2369+8C>A) | gnomAD v4 |
| 16 | g.28902919C= | CA2215888693 | ATP2A1 | c.2744+8C= (n.2744+8C=) c.2369+8C= (n.2369+8C=) | |
| 16 | g.28902919C>G | CA7987370 | ATP2A1 | c.2744+8C>G (n.2744+8C>G) c.2369+8C>G (n.2369+8C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902919C>T | CA622162573 | ATP2A1 | c.2744+8C>T (n.2744+8C>T) c.2369+8C>T (n.2369+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902924dup | CA7987368 | ATP2A1 | c.2744+13dup (n.2744+13dup) c.2369+13dup (n.2369+13dup) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.28902924del | CA2575960589 | ATP2A1 | c.2744+13del (n.2744+13del) c.2369+13del (n.2369+13del) | gnomAD v4 |
| 16 | g.28902920C= | CA2215888698 | ATP2A1 | c.2744+9C= (n.2744+9C=) c.2369+9C= (n.2369+9C=) | |
| 16 | g.28902920C>G | CA7987371 | ATP2A1 | c.2744+9C>G (n.2744+9C>G) c.2369+9C>G (n.2369+9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902920C>T | CA719742571 | ATP2A1 | c.2744+9C>T (n.2744+9C>T) c.2369+9C>T (n.2369+9C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28902921C= | CA2215888701 | ATP2A1 | c.2744+10C= (n.2744+10C=) c.2369+10C= (n.2369+10C=) | |
| 16 | g.28902921C>T | CA7987372 | ATP2A1 | c.2744+10C>T (n.2744+10C>T) c.2369+10C>T (n.2369+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902922C>A | CA2632541320 | ATP2A1 | c.2744+11C>A (n.2744+11C>A) c.2369+11C>A (n.2369+11C>A) | gnomAD v4 |
| 16 | g.28902922C= | CA2215888703 | ATP2A1 | c.2744+11C= (n.2744+11C=) c.2369+11C= (n.2369+11C=) | |
| 16 | g.28902922C>T | CA7987373 | ATP2A1 | c.2744+11C>T (n.2744+11C>T) c.2369+11C>T (n.2369+11C>T) | dbSNP ExAC gnomAD v2 |
| 16 | g.28902924C>A | CA2575960590 | ATP2A1 | c.2744+13C>A (n.2744+13C>A) c.2369+13C>A (n.2369+13C>A) | gnomAD v4 |
| 16 | g.28902924C= | CA2215888705 | ATP2A1 | c.2744+13C= (n.2744+13C=) c.2369+13C= (n.2369+13C=) | |
| 16 | g.28902924C>T | CA2215888706 | ATP2A1 | c.2744+13C>T (n.2744+13C>T) c.2369+13C>T (n.2369+13C>T) | dbSNP |
| 16 | g.28902925A= | CA2215888708 | ATP2A1 | c.2744+14A= (n.2744+14A=) c.2369+14A= (n.2369+14A=) | |
| 16 | g.28902925A>C | CA719742573 | ATP2A1 | c.2744+14A>C (n.2744+14A>C) c.2369+14A>C (n.2369+14A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28902926G>C | CA976150852 | ATP2A1 | c.2744+15G>C (n.2744+15G>C) c.2369+15G>C (n.2369+15G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28902926G= | CA2215888710 | ATP2A1 | c.2744+15G= (n.2744+15G=) c.2369+15G= (n.2369+15G=) | |
| 16 | g.28902930C= | CA2215888716 | ATP2A1 | c.2744+19C= (n.2744+19C=) c.2369+19C= (n.2369+19C=) | |
| 16 | g.28902930C>T | CA7987374 | ATP2A1 | c.2744+19C>T (n.2744+19C>T) c.2369+19C>T (n.2369+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902931A= | CA2215888720 | ATP2A1 | c.2744+20A= (n.2744+20A=) c.2369+20A= (n.2369+20A=) | |
| 16 | g.28902931A>C | CA2215888722 | ATP2A1 | c.2744+20A>C (n.2744+20A>C) c.2369+20A>C (n.2369+20A>C) | dbSNP |
| 16 | g.28902932C>A | CA719742574 | ATP2A1 | c.2744+21C>A (n.2744+21C>A) c.2369+21C>A (n.2369+21C>A) | dbSNP |
| 16 | g.28902932C= | CA2215888725 | ATP2A1 | c.2744+21C= (n.2744+21C=) c.2369+21C= (n.2369+21C=) | |
| 16 | g.28902933C>T | CA2593660292 | ATP2A1 | c.2744+22C>T (n.2744+22C>T) c.2369+22C>T (n.2369+22C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28902935A= | CA2215888728 | ATP2A1 | c.2744+24A= (n.2744+24A=) c.2369+24A= (n.2369+24A=) | |
| 16 | g.28902935A>C | CA2215888729 | ATP2A1 | c.2744+24A>C (n.2744+24A>C) c.2369+24A>C (n.2369+24A>C) | dbSNP gnomAD v4 |
| 16 | g.28902936C= | CA2215888731 | ATP2A1 | c.2744+25C= (n.2744+25C=) c.2369+25C= (n.2369+25C=) | |
| 16 | g.28902936C>T | CA719742575 | ATP2A1 | c.2744+25C>T (n.2744+25C>T) c.2369+25C>T (n.2369+25C>T) | dbSNP |
| 16 | g.28902937C>A | CA2632541322 | ATP2A1 | c.2744+26C>A (n.2744+26C>A) c.2369+26C>A (n.2369+26C>A) | gnomAD v4 |
| 16 | g.28902938A= | CA2215888734 | ATP2A1 | c.2744+27A= (n.2744+27A=) c.2369+27A= (n.2369+27A=) | |
| 16 | g.28902938A>C | CA2215888735 | ATP2A1 | c.2744+27A>C (n.2744+27A>C) c.2369+27A>C (n.2369+27A>C) | dbSNP |
| 16 | g.28902938A>T | CA2632541323 | ATP2A1 | c.2744+27A>T (n.2744+27A>T) c.2369+27A>T (n.2369+27A>T) | gnomAD v4 |
| 16 | g.28902939C>T | CA2632541324 | ATP2A1 | c.2744+28C>T (n.2744+28C>T) c.2369+28C>T (n.2369+28C>T) | gnomAD v4 |
| 16 | g.28902939_28902964delinsCCCTCCCCTGAGGCCACTGCCCACAT | CA2215888736 | ATP2A1 | c.2744+28_2744+53delinsCCCTCCCCTGAGGCCACTGCCCACAT (n.2744+28_2744+53delinsCCCTCCCCTGAGGCCACTGCCCACAT) c.2369+28_2369+53delinsCCCTCCCCTGAGGCCACTGCCCACAT (n.2369+28_2369+53delinsCCCTCCCCTGAGGCCACTGCCCACAT) | |
| 16 | g.28902940C= | CA2215888738 | ATP2A1 | c.2744+29C= (n.2744+29C=) c.2369+29C= (n.2369+29C=) | |
| 16 | g.28902940C>G | CA7987376 | ATP2A1 | c.2744+29C>G (n.2744+29C>G) c.2369+29C>G (n.2369+29C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902945_28902969del | CA7987375 | ATP2A1 | c.2744+34_2744+58del (n.2744+34_2744+58del) c.2369+34_2369+58del (n.2369+34_2369+58del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902941C= | CA2215888745 | ATP2A1 | c.2744+30C= (n.2744+30C=) c.2369+30C= (n.2369+30C=) | |
| 16 | g.28902941C>G | CA279244581 | ATP2A1 | c.2744+30C>G (n.2744+30C>G) c.2369+30C>G (n.2369+30C>G) | dbSNP gnomAD v4 |
| 16 | g.28902941C>T | CA7987377 | ATP2A1 | c.2744+30C>T (n.2744+30C>T) c.2369+30C>T (n.2369+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902942T>A | CA2632541327 | ATP2A1 | c.2744+31T>A (n.2744+31T>A) c.2369+31T>A (n.2369+31T>A) | gnomAD v4 |
| 16 | g.28902942T>C | CA2575960591 | ATP2A1 | c.2744+31T>C (n.2744+31T>C) c.2369+31T>C (n.2369+31T>C) | gnomAD v4 |
| 16 | g.28902943C>A | CA7987378 | ATP2A1 | c.2744+32C>A (n.2744+32C>A) c.2369+32C>A (n.2369+32C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28902943C= | CA2215888752 | ATP2A1 | c.2744+32C= (n.2744+32C=) c.2369+32C= (n.2369+32C=) | |
| 16 | g.28902945_28902946del | CA2632541328 | ATP2A1 | c.2744+34_2744+35del (n.2744+34_2744+35del) c.2369+34_2369+35del (n.2369+34_2369+35del) | gnomAD v4 |
| 16 | g.28902944C>A | CA7987379 | ATP2A1 | c.2744+33C>A (n.2744+33C>A) c.2369+33C>A (n.2369+33C>A) | dbSNP ExAC gnomAD v2 |
| 16 | g.28902944C= | CA2215888758 | ATP2A1 | c.2744+33C= (n.2744+33C=) c.2369+33C= (n.2369+33C=) | |
| 16 | g.28902945C>A | CA279244603 | ATP2A1 | c.2744+34C>A (n.2744+34C>A) c.2369+34C>A (n.2369+34C>A) | dbSNP |
| 16 | g.28902945C= | CA2215888761 | ATP2A1 | c.2744+34C= (n.2744+34C=) c.2369+34C= (n.2369+34C=) | |
| 16 | g.28902945C>T | CA656662854 | ATP2A1 | c.2744+34C>T (n.2744+34C>T) c.2369+34C>T (n.2369+34C>T) | gnomAD v4 COSMIC |
| 16 | g.28902945_28902947delinsCCT | CA2215888765 | ATP2A1 | c.2744+34_2744+36delinsCCT (n.2744+34_2744+36delinsCCT) c.2369+34_2369+36delinsCCT (n.2369+34_2369+36delinsCCT) | |
| 16 | g.28902946_28902947del | CA7987380 | ATP2A1 | c.2744+35_2744+36del (n.2744+35_2744+36del) c.2369+35_2369+36del (n.2369+35_2369+36del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902947T>C | CA2215888769 | ATP2A1 | c.2744+36T>C (n.2744+36T>C) c.2369+36T>C (n.2369+36T>C) | dbSNP gnomAD v4 |
| 16 | g.28902947T>G | CA622162574 | ATP2A1 | c.2744+36T>G (n.2744+36T>G) c.2369+36T>G (n.2369+36T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28902947T= | CA2215888771 | ATP2A1 | c.2744+36T= (n.2744+36T=) c.2369+36T= (n.2369+36T=) | |
| 16 | g.28902947_28902948del | CA395415392 | ATP2A1 | c.2744+36_2744+37del (n.2744+36_2744+37del) c.2369+36_2369+37del (n.2369+36_2369+37del) | |
| 16 | g.28902948G>C | CA2632541329 | ATP2A1 | c.2744+37G>C (n.2744+37G>C) c.2369+37G>C (n.2369+37G>C) | gnomAD v4 |
| 16 | g.28902950G>A | CA2575960592 | ATP2A1 | c.2744+39G>A (n.2744+39G>A) c.2369+39G>A (n.2369+39G>A) | gnomAD v4 |
| 16 | g.28902951G>A | CA7987381 | ATP2A1 | c.2744+40G>A (n.2744+40G>A) c.2369+40G>A (n.2369+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902951G>C | CA2632541331 | ATP2A1 | c.2744+40G>C (n.2744+40G>C) c.2369+40G>C (n.2369+40G>C) | gnomAD v4 |
| 16 | g.28902951G= | CA2215888773 | ATP2A1 | c.2744+40G= (n.2744+40G=) c.2369+40G= (n.2369+40G=) | |
| 16 | g.28902952C= | CA2215888775 | ATP2A1 | c.2744+41C= (n.2744+41C=) c.2369+41C= (n.2369+41C=) | |
| 16 | g.28902952C>T | CA7987382 | ATP2A1 | c.2744+41C>T (n.2744+41C>T) c.2369+41C>T (n.2369+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902953C= | CA2215888779 | ATP2A1 | c.2744+42C= (n.2744+42C=) c.2369+42C= (n.2369+42C=) | |
| 16 | g.28902953C>T | CA2215888783 | ATP2A1 | c.2744+42C>T (n.2744+42C>T) c.2369+42C>T (n.2369+42C>T) | dbSNP gnomAD v4 |
| 16 | g.28902954A>G | CA2632541332 | ATP2A1 | c.2744+43A>G (n.2744+43A>G) c.2369+43A>G (n.2369+43A>G) | gnomAD v4 |
| 16 | g.28902955C>A | CA2575960593 | ATP2A1 | c.2744+44C>A (n.2744+44C>A) c.2369+44C>A (n.2369+44C>A) | |
| 16 | g.28902956T>A | CA7987383 | ATP2A1 | c.2744+45T>A (n.2744+45T>A) c.2369+45T>A (n.2369+45T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902956T>C | CA7987384 | ATP2A1 | c.2744+45T>C (n.2744+45T>C) c.2369+45T>C (n.2369+45T>C) | dbSNP ExAC gnomAD v2 |
| 16 | g.28902956T= | CA2215888787 | ATP2A1 | c.2744+45T= (n.2744+45T=) c.2369+45T= (n.2369+45T=) | |
| 16 | g.28902957G= | CA2215888791 | ATP2A1 | c.2744+46G= (n.2744+46G=) c.2369+46G= (n.2369+46G=) | |
| 16 | g.28902957G>T | CA2215888794 | ATP2A1 | c.2744+46G>T (n.2744+46G>T) c.2369+46G>T (n.2369+46G>T) | dbSNP gnomAD v4 |
| 16 | g.28902958C= | CA2215888795 | ATP2A1 | c.2744+47C= (n.2744+47C=) c.2369+47C= (n.2369+47C=) | |
| 16 | g.28902958C>T | CA7987385 | ATP2A1 | c.2744+47C>T (n.2744+47C>T) c.2369+47C>T (n.2369+47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902959C>T | CA2632541333 | ATP2A1 | c.2744+48C>T (n.2744+48C>T) c.2369+48C>T (n.2369+48C>T) | gnomAD v4 |