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