Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |