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