Unique variants in gene CACNA1S

Information The variants shown are described using the NM_000069.2 transcript reference sequence.

501 entries on 6 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.19C>T r.(?) p.(Gln7*) g.201081449G>A Copied from the Exome Variant Server CACNA1S_000498 1/13006 1/8600 0/4406
1 c.28G>A r.(?) p.(Gly10Ser) g.201081440C>T Copied from the Exome Variant Server CACNA1S_000497 1/13006 1/8600 0/4406
1 c.54G>A r.(=) p.(=) g.201081414C>T Copied from the Exome Variant Server CACNA1S_000496 1/13006 1/8600 0/4406
1 c.99C>T r.(=) p.(=) g.201081369G>A Copied from the Exome Variant Server CACNA1S_000495 1/13006 1/8600 0/4406
1 c.140T>A r.(?) p.(Ile47Asn) g.201081328A>T Copied from the Exome Variant Server CACNA1S_000494 1/13006 1/8600 0/4406
1 c.152+9C>T r.(=) p.(=) g.201081307G>A Copied from the Exome Variant Server CACNA1S_000493 1/13006 1/8600 0/4406
1 c.152+17G>C r.(=) p.(=) g.201081299C>G Copied from the Exome Variant Server CACNA1S_000492 487/13006 6/8600 481/4406
1 c.152+22G>A r.(=) p.(=) g.201081294C>T Copied from the Exome Variant Server CACNA1S_000491 1/13006 1/8600 0/4406
1 c.152+26G>A r.(=) p.(=) g.201081290C>T Copied from the Exome Variant Server CACNA1S_000490 90/13006 9/8600 81/4406
1 c.152+38G>A r.(=) p.(=) g.201081278C>T Copied from the Exome Variant Server CACNA1S_000489 45/13006 6/8600 39/4406
1 c.152+41A>T r.(=) p.(=) g.201081275T>A Copied from the Exome Variant Server CACNA1S_000488 12/13006 0/8600 12/4406
1 c.153-51C>T r.(=) p.(=) g.201079448G>A Copied from the Exome Variant Server CACNA1S_000487 1/13006 1/8600 0/4406
1 c.153-28C>T r.(=) p.(=) g.201079425G>A Copied from the Exome Variant Server CACNA1S_000486 6/13006 0/8600 6/4406
1 c.159C>G r.(?) p.(Phe53Leu) g.201079391G>C Copied from the Exome Variant Server CACNA1S_000484 1/13006 0/8600 1/4406
1 c.165G>A r.(=) p.(=) g.201079385C>T Copied from the Exome Variant Server CACNA1S_000482 10/13006 0/8600 10/4406
1 c.166A>C r.(?) p.(Ile56Leu) g.201079384T>G Copied from the Exome Variant Server CACNA1S_000480 1/13006 1/8600 0/4406
1 c.181A>G r.(?) p.(Ile61Val) g.201079369T>C Copied from the Exome Variant Server CACNA1S_000478 2/13006 0/8600 2/4406
1 c.206C>G r.(?) p.(Ala69Gly) g.201079344G>C Copied from the Exome Variant Server CACNA1S_000476 510/13006 465/8600 45/4406
1 c.225G>A r.(=) p.(=) g.201079325C>T Copied from the Exome Variant Server CACNA1S_000474 4/13006 0/8600 4/4406
1 c.237C>G r.(?) p.(Asn79Lys) g.201079313G>C Copied from the Exome Variant Server CACNA1S_000472 1/13006 0/8600 1/4406
1 c.252C>T r.(=) p.(=) g.201079298G>A Copied from the Exome Variant Server CACNA1S_000470 71/13006 0/8600 71/4406
1 c.253G>A r.(?) p.(Gly85Ser) g.201079297C>T Copied from the Exome Variant Server CACNA1S_000468 1/13006 1/8600 0/4406
1 c.258+6A>G r.(=) p.(=) g.201079286T>C Copied from the Exome Variant Server CACNA1S_000466 2/13006 0/8600 2/4406
1 c.258+31C>A r.(=) p.(=) g.201079261G>T Copied from the Exome Variant Server CACNA1S_000464 64/13006 1/8600 63/4406
1 c.258+32G>A r.(=) p.(=) g.201079260C>T Copied from the Exome Variant Server CACNA1S_000485 1/13006 1/8600 0/4406
1 c.259-51G>C r.(=) p.(=) g.201063200C>G Copied from the Exome Variant Server CACNA1S_000483 2/13006 0/8600 2/4406
1 c.259-46A>C r.(=) p.(=) g.201063195T>G Copied from the Exome Variant Server CACNA1S_000481 3/13006 3/8600 0/4406
1 c.259-43C>T r.(=) p.(=) g.201063192G>A Copied from the Exome Variant Server CACNA1S_000479 85/13006 1/8600 84/4406
1 c.259-37G>A r.(=) p.(=) g.201063186C>T Copied from the Exome Variant Server CACNA1S_000477 1/13006 0/8600 1/4406
1 c.259-15C>T r.(=) p.(=) g.201063164G>A Copied from the Exome Variant Server CACNA1S_000475 1/13006 1/8600 0/4406
1 c.259-5C>T r.spl? p.? g.201063154G>A Copied from the Exome Variant Server CACNA1S_000473 1/13006 0/8600 1/4406
1 c.259-4A>C r.spl? p.? g.201063153T>G Copied from the Exome Variant Server CACNA1S_000471 1/13006 1/8600 0/4406
1 c.262A>G r.(?) p.(Lys88Glu) g.201063146T>C Copied from the Exome Variant Server CACNA1S_000469 3/13006 3/8600 0/4406
1 c.296T>A r.(?) p.(Ile99Asn) g.201063112A>T Copied from the Exome Variant Server CACNA1S_000467 1/13006 1/8600 0/4406
1 c.297T>A r.(=) p.(=) g.201063111A>T Copied from the Exome Variant Server CACNA1S_000465 1/13006 1/8600 0/4406
1 c.324C>T r.(=) p.(=) g.201063084G>A Copied from the Exome Variant Server CACNA1S_000463 9/13006 5/8600 4/4406
1 c.336C>G r.(?) p.(Phe112Leu) g.201063072G>C Copied from the Exome Variant Server CACNA1S_000462 1/13006 1/8600 0/4406
1 c.345C>T r.(=) p.(=) g.201063063G>A Copied from the Exome Variant Server CACNA1S_000461 13/13006 10/8600 3/4406
1 c.369T>C r.(=) p.(=) g.201063039A>G Copied from the Exome Variant Server CACNA1S_000460 7/13006 5/8600 2/4406
1 c.383C>G r.(?) p.(Thr128Ser) g.201063025G>C Copied from the Exome Variant Server CACNA1S_000459 36/13006 0/8600 36/4406
1 c.390C>T r.(=) p.(=) g.201063018G>A Copied from the Exome Variant Server CACNA1S_000458 1/13006 1/8600 0/4406
1 c.394C>A r.(?) p.(Leu132Met) g.201063014G>T Copied from the Exome Variant Server CACNA1S_000457 1/13006 1/8600 0/4406
1 c.398+31C>T r.(=) p.(=) g.201062979G>A Copied from the Exome Variant Server CACNA1S_000456 1/13006 0/8600 1/4406
1 c.398+38T>C r.(=) p.(=) g.201062972A>G Copied from the Exome Variant Server CACNA1S_000455 35/13006 0/8600 35/4406
1 c.398+48C>T r.(=) p.(=) g.201062962G>A Copied from the Exome Variant Server CACNA1S_000454 1/13006 1/8600 0/4406
1 c.399-14C>T r.(=) p.(=) g.201061256G>A Copied from the Exome Variant Server CACNA1S_000453 96/13006 1/8600 95/4406
1 c.437A>G r.(?) p.(Gln146Arg) g.201061204T>C Copied from the Exome Variant Server CACNA1S_000452 1/13006 1/8600 0/4406
1 c.454A>G r.(?) p.(Met152Val) g.201061187T>C Copied from the Exome Variant Server CACNA1S_000451 1/13006 1/8600 0/4406
1 c.472G>A r.(?) p.(Gly158Ser) g.201061169C>T Copied from the Exome Variant Server CACNA1S_000450 1/13006 1/8600 0/4406
1 c.481G>A r.(?) p.(Val161Ile) g.201061160C>T Copied from the Exome Variant Server CACNA1S_000449 3/13006 3/8600 0/4406
1 c.482T>C r.(?) p.(Val161Ala) g.201061159A>G Copied from the Exome Variant Server CACNA1S_000448 1/13006 1/8600 0/4406
1 c.514C>T r.(?) p.(Pro172Ser) g.201061127G>A Copied from the Exome Variant Server CACNA1S_000447 1/13006 1/8600 0/4406
1 c.530C>T r.(?) p.(Ser177Leu) g.201061111G>A Copied from the Exome Variant Server CACNA1S_000446 7/13006 7/8600 0/4406
1 c.540T>C r.(=) p.(=) g.201061101A>G Copied from the Exome Variant Server CACNA1S_000445 7/13006 0/8600 7/4406
1 c.541+9C>T r.(=) p.(=) g.201061091G>A Copied from the Exome Variant Server CACNA1S_000444 1/13006 1/8600 0/4406
1 c.541+49C>A r.(=) p.(=) g.201061051G>T Copied from the Exome Variant Server CACNA1S_000443 3/13006 3/8600 0/4406
1 c.542-35G>A r.(=) p.(=) g.201060955C>T Copied from the Exome Variant Server CACNA1S_000442 1/12992 1/8592 0/4400
1 c.542-13C>T r.(=) p.(=) g.201060933G>A Copied from the Exome Variant Server CACNA1S_000441 3/13004 1/8600 2/4404
1 c.597C>T r.(=) p.(=) g.201060865G>A Copied from the Exome Variant Server CACNA1S_000440 4289/13006 3799/8600 490/4406
1 c.634A>G r.(?) p.(Ile212Val) g.201060828T>C Copied from the Exome Variant Server CACNA1S_000439 1/13006 1/8600 0/4406
1 c.670A>G r.(?) p.(Lys224Glu) g.201060792T>C Copied from the Exome Variant Server CACNA1S_000438 1/13006 1/8600 0/4406
1 c.681C>T r.(=) p.(=) g.201060781G>A Copied from the Exome Variant Server CACNA1S_000437 1/13006 1/8600 0/4406
1 c.695-52C>T r.(=) p.(=) g.201058643G>A Copied from the Exome Variant Server CACNA1S_000436 3/7270 3/4616 0/2654
1 c.695-11T>C r.(=) p.(=) g.201058602A>G Copied from the Exome Variant Server CACNA1S_000435 2/13006 1/8600 1/4406
1 c.700G>A r.(?) p.(Val234Met) g.201058586C>T Copied from the Exome Variant Server CACNA1S_000434 2/13006 2/8600 0/4406
1 c.724C>T r.(?) p.(Pro242Ser) g.201058562G>A Copied from the Exome Variant Server CACNA1S_000499 1/13006 0/8600 1/4406
1 c.744G>C r.(=) p.(=) g.201058542C>G Copied from the Exome Variant Server CACNA1S_000431 1/13006 0/8600 1/4406
1 c.754C>T r.(?) p.(Arg252Cys) g.201058532G>A Copied from the Exome Variant Server CACNA1S_000429 1/13006 0/8600 1/4406
1 c.773G>A r.(?) p.(Gly258Asp) g.201058513C>T Copied from the Exome Variant Server CACNA1S_000427 101/13004 95/8598 6/4406
1 c.789C>A r.(=) p.(=) g.201058497G>T Copied from the Exome Variant Server CACNA1S_000425 1/13006 0/8600 1/4406
1 c.834C>T r.(=) p.(=) g.201058452G>A Copied from the Exome Variant Server CACNA1S_000423 1/13006 1/8600 0/4406
1 c.835G>A r.(?) p.(Gly279Ser) g.201058451C>T Copied from the Exome Variant Server CACNA1S_000421 1/13006 0/8600 1/4406
1 c.852C>T r.(=) p.(=) g.201058434G>A Copied from the Exome Variant Server CACNA1S_000419 3/13006 3/8600 0/4406
1 c.858C>T r.(=) p.(=) g.201058428G>A Copied from the Exome Variant Server CACNA1S_000417 232/13006 15/8600 217/4406
1 c.865A>G r.(?) p.(Ile289Val) g.201058421T>C Copied from the Exome Variant Server CACNA1S_000433 1/13006 0/8600 1/4406
1 c.872T>C r.(?) p.(Met291Thr) g.201058414A>G Copied from the Exome Variant Server CACNA1S_000432 1/13006 0/8600 1/4406
1 c.889G>A r.(?) p.(Val297Ile) g.201058397C>T Copied from the Exome Variant Server CACNA1S_000430 1/13006 0/8600 1/4406
1 c.895T>C r.(?) p.(Tyr299His) g.201058391A>G Copied from the Exome Variant Server CACNA1S_000428 91/13006 0/8600 91/4406
1 c.898T>C r.(?) p.(Trp300Arg) g.201058388A>G Copied from the Exome Variant Server CACNA1S_000426 2/13006 2/8600 0/4406
1 c.900G>A r.(?) p.(Trp300*) g.201058386C>T Copied from the Exome Variant Server CACNA1S_000424 2/13006 1/8600 1/4406
1 c.900+14C>T r.(=) p.(=) g.201058372G>A Copied from the Exome Variant Server CACNA1S_000422 17/13006 0/8600 17/4406
1 c.900+16C>T r.(=) p.(=) g.201058370G>A Copied from the Exome Variant Server CACNA1S_000420 1/13006 1/8600 0/4406
1 c.900+17G>A r.(=) p.(=) g.201058369C>T Copied from the Exome Variant Server CACNA1S_000418 2/13006 1/8600 1/4406
1 c.900+21G>A r.(=) p.(=) g.201058365C>T Copied from the Exome Variant Server CACNA1S_000416 1/13006 0/8600 1/4406
1 c.900+24G>C r.(=) p.(=) g.201058362C>G Copied from the Exome Variant Server CACNA1S_000415 1/13006 0/8600 1/4406
1 c.900+47G>T r.(=) p.(=) g.201058339C>A Copied from the Exome Variant Server CACNA1S_000414 2/13006 0/8600 2/4406
1 c.901-47A>G r.(=) p.(=) g.201057104T>C Copied from the Exome Variant Server CACNA1S_000413 1/13002 1/8598 0/4404
1 c.901-30C>T r.(=) p.(=) g.201057087G>A Copied from the Exome Variant Server CACNA1S_000412 1/13006 0/8600 1/4406
1 c.915C>T r.(=) p.(=) g.201057043G>A Copied from the Exome Variant Server CACNA1S_000411 2/13006 1/8600 1/4406
1 c.948C>T r.(=) p.(=) g.201057010G>A Copied from the Exome Variant Server CACNA1S_000410 2/13006 0/8600 2/4406
1 c.984G>T r.(=) p.(=) g.201056974C>A Copied from the Exome Variant Server CACNA1S_000409 2/13006 0/8600 2/4406
1 c.1004+40A>T r.(=) p.(=) g.201056914T>A Copied from the Exome Variant Server CACNA1S_000408 1/13006 1/8600 0/4406
1 c.1005-33T>C r.(=) p.(=) g.201054742A>G Copied from the Exome Variant Server CACNA1S_000407 1/13006 1/8600 0/4406
1 c.1005-29C>T r.(=) p.(=) g.201054738G>A Copied from the Exome Variant Server CACNA1S_000406 1/13006 1/8600 0/4406
1 c.1006G>C r.(?) p.(Glu336Gln) g.201054708C>G Copied from the Exome Variant Server CACNA1S_000405 1/13006 1/8600 0/4406
1 c.1022G>A r.(?) p.(Arg341Gln) g.201054692C>T Copied from the Exome Variant Server CACNA1S_000404 2/13006 1/8600 1/4406
1 c.1038C>A r.(=) p.(=) g.201054676G>T Copied from the Exome Variant Server CACNA1S_000403 1/13006 1/8600 0/4406
1 c.1044A>G r.(=) p.(=) g.201054670T>C Copied from the Exome Variant Server CACNA1S_000402 1/13006 1/8600 0/4406
1 c.1112C>T r.(?) p.(Thr371Met) g.201054602G>A Copied from the Exome Variant Server CACNA1S_000401 3/13006 2/8600 1/4406
1 c.1113G>A r.(=) p.(=) g.201054601C>T Copied from the Exome Variant Server CACNA1S_000400 1/13006 0/8600 1/4406
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