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