Full data view for gene MKI67

Information The variants shown are described using the NM_002417.4 transcript reference sequence.

496 entries on 5 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-15C>T r.(=) p.(=) g.129923946G>A Copied from the Exome Variant Server MKI67_000494 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-7T>G r.(=) p.(=) g.129923938A>C Copied from the Exome Variant Server MKI67_000493 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-3A>T r.(=) p.(=) g.129923934T>A Copied from the Exome Variant Server MKI67_000492 17/13006 0/8600 17/4406 - - - - - - -
?/? c.4T>C r.(?) p.(Trp2Arg) g.129923928A>G Copied from the Exome Variant Server MKI67_000491 2/13006 0/8600 2/4406 - - - - - - -
?/? c.85T>C r.(?) p.(Phe29Leu) g.129923847A>G Copied from the Exome Variant Server MKI67_000490 4/13006 2/8600 2/4406 - - - - - - -
?/? c.93-21_93-20insA r.(=) p.(=) g.129921453_129921454insT Copied from the Exome Variant Server MKI67_000489 2/12518 0/8254 2/4264 - - - - - - -
?/? c.93-6A>G r.(=) p.(=) g.129921439T>C Copied from the Exome Variant Server MKI67_000488 1/13006 0/8600 1/4406 - - - - - - -
?/? c.171+32A>C r.(=) p.(=) g.129921323T>G Copied from the Exome Variant Server MKI67_000487 8/13006 0/8600 8/4406 - - - - - - -
?/? c.171+40A>C r.(=) p.(=) g.129921315T>G Copied from the Exome Variant Server MKI67_000486 1/13006 1/8600 0/4406 - - - - - - -
?/? c.172-35A>G r.(=) p.(=) g.129921295T>C Copied from the Exome Variant Server MKI67_000485 4/13006 4/8600 0/4406 - - - - - - -
?/? c.172-25T>C r.(=) p.(=) g.129921285A>G Copied from the Exome Variant Server MKI67_000484 1/13006 1/8600 0/4406 - - - - - - -
?/? c.196A>G r.(?) p.(Thr66Ala) g.129921236T>C Copied from the Exome Variant Server MKI67_000483 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237T>A r.(=) p.(=) g.129921195A>T Copied from the Exome Variant Server MKI67_000482 1316/13006 669/8600 647/4406 - - - - - - -
?/? c.267T>A r.(=) p.(=) g.129921165A>T Copied from the Exome Variant Server MKI67_000481 1/13006 1/8600 0/4406 - - - - - - -
?/? c.287+19G>T r.(=) p.(=) g.129921126C>A Copied from the Exome Variant Server MKI67_000480 1/13004 0/8600 1/4404 - - - - - - -
?/? c.288-53C>T r.(=) p.(=) g.129917636G>A Copied from the Exome Variant Server MKI67_000479 2/4566 2/3182 0/1384 - - - - - - -
?/? c.288-41T>C r.(=) p.(=) g.129917624A>G Copied from the Exome Variant Server MKI67_000478 1/13002 1/8598 0/4404 - - - - - - -
?/? c.310A>C r.(?) p.(Asn104His) g.129917561T>G Copied from the Exome Variant Server MKI67_000477 1/13002 1/8600 0/4402 - - - - - - -
?/? c.311A>G r.(?) p.(Asn104Ser) g.129917560T>C Copied from the Exome Variant Server MKI67_000476 7998/13002 5515/8600 2483/4402 - - - - - - -
?/? c.318G>A r.(=) p.(=) g.129917553C>T Copied from the Exome Variant Server MKI67_000475 1/13002 1/8600 0/4402 - - - - - - -
?/? c.354G>A r.(=) p.(=) g.129917517C>T Copied from the Exome Variant Server MKI67_000474 1/13000 0/8598 1/4402 - - - - - - -
?/? c.354+27del r.(=) p.(=) g.129917490del Copied from the Exome Variant Server MKI67_000473 1/12510 1/8250 0/4260 - - - - - - -
?/? c.364C>T r.(?) p.(Arg122Cys) g.129914791G>A Copied from the Exome Variant Server MKI67_000471 1/13006 0/8600 1/4406 - - - - - - -
?/? c.368G>A r.(?) p.(Arg123His) g.129914787C>T Copied from the Exome Variant Server MKI67_000469 122/13006 111/8600 11/4406 - - - - - - -
?/? c.397C>T r.(?) p.(Pro133Ser) g.129914758G>A Copied from the Exome Variant Server MKI67_000467 1/13006 1/8600 0/4406 - - - - - - -
?/? c.400+4A>G r.spl? p.? g.129914751T>C Copied from the Exome Variant Server MKI67_000472 1/13006 0/8600 1/4406 - - - - - - -
?/? c.400+6T>C r.(=) p.(=) g.129914749A>G Copied from the Exome Variant Server MKI67_000470 1/13006 0/8600 1/4406 - - - - - - -
?/? c.400+25C>T r.(=) p.(=) g.129914730G>A Copied from the Exome Variant Server MKI67_000468 1/13006 1/8600 0/4406 - - - - - - -
?/? c.400+44G>A r.(=) p.(=) g.129914711C>T Copied from the Exome Variant Server MKI67_000466 1/13006 1/8600 0/4406 - - - - - - -
?/? c.401-16A>G r.(=) p.(=) g.129914287T>C Copied from the Exome Variant Server MKI67_000465 2/13006 0/8600 2/4406 - - - - - - -
?/? c.473A>G r.(?) p.(His158Arg) g.129914199T>C Copied from the Exome Variant Server MKI67_000464 3/13006 3/8600 0/4406 - - - - - - -
?/? c.488A>G r.(?) p.(Lys163Arg) g.129914184T>C Copied from the Exome Variant Server MKI67_000463 2/13006 2/8600 0/4406 - - - - - - -
?/? c.501C>T r.(=) p.(=) g.129914171G>A Copied from the Exome Variant Server MKI67_000462 1/13006 0/8600 1/4406 - - - - - - -
?/? c.510C>G r.(?) p.(Asp170Glu) g.129914162G>C Copied from the Exome Variant Server MKI67_000461 24/13006 21/8600 3/4406 - - - - - - -
?/? c.521G>T r.(?) p.(Ser174Ile) g.129914151C>A Copied from the Exome Variant Server MKI67_000460 1/13006 1/8600 0/4406 - - - - - - -
?/? c.544G>A r.(?) p.(Val182Ile) g.129914128C>T Copied from the Exome Variant Server MKI67_000459 1/13006 1/8600 0/4406 - - - - - - -
?/? c.595A>G r.(?) p.(Ile199Val) g.129914077T>C Copied from the Exome Variant Server MKI67_000458 1/13006 0/8600 1/4406 - - - - - - -
?/? c.623G>A r.(?) p.(Ser208Asn) g.129914049C>T Copied from the Exome Variant Server MKI67_000457 1/13006 0/8600 1/4406 - - - - - - -
?/? c.625G>A r.(?) p.(Val209Ile) g.129914047C>T Copied from the Exome Variant Server MKI67_000456 1/13006 0/8600 1/4406 - - - - - - -
?/? c.647G>A r.(?) p.(Gly216Glu) g.129914025C>T Copied from the Exome Variant Server MKI67_000455 157/13006 145/8600 12/4406 - - - - - - -
?/? c.648A>T r.(=) p.(=) g.129914024T>A Copied from the Exome Variant Server MKI67_000454 6/13006 0/8600 6/4406 - - - - - - -
?/? c.671C>T r.(?) p.(Thr224Ile) g.129914001G>A Copied from the Exome Variant Server MKI67_000453 1/13006 1/8600 0/4406 - - - - - - -
?/? c.673C>T r.(?) p.(Gln225*) g.129913999G>A Copied from the Exome Variant Server MKI67_000452 1/13006 1/8600 0/4406 - - - - - - -
?/? c.712T>A r.(?) p.(Trp238Arg) g.129913960A>T Copied from the Exome Variant Server MKI67_000451 3525/13006 2140/8600 1385/4406 - - - - - - -
?/? c.730G>A r.(?) p.(Val244Met) g.129913942C>T Copied from the Exome Variant Server MKI67_000450 1/13006 1/8600 0/4406 - - - - - - -
?/? c.763G>A r.(?) p.(Glu255Lys) g.129913909C>T Copied from the Exome Variant Server MKI67_000449 1/13006 1/8600 0/4406 - - - - - - -
?/? c.794G>T r.(?) p.(Gly265Val) g.129913878C>A Copied from the Exome Variant Server MKI67_000448 1/13006 0/8600 1/4406 - - - - - - -
?/? c.795A>T r.(=) p.(=) g.129913877T>A Copied from the Exome Variant Server MKI67_000447 1/13006 0/8600 1/4406 - - - - - - -
?/? c.811G>A r.(?) p.(Ala271Thr) g.129913861C>T Copied from the Exome Variant Server MKI67_000446 1/13006 1/8600 0/4406 - - - - - - -
?/? c.814A>T r.(?) p.(Thr272Ser) g.129913858T>A Copied from the Exome Variant Server MKI67_000445 1/13006 0/8600 1/4406 - - - - - - -
?/? c.840A>G r.(=) p.(=) g.129913832T>C Copied from the Exome Variant Server MKI67_000444 1/13006 0/8600 1/4406 - - - - - - -
?/? c.866C>T r.(?) p.(Ser289Leu) g.129913806G>A Copied from the Exome Variant Server MKI67_000443 1/13006 1/8600 0/4406 - - - - - - -
?/? c.867G>A r.(=) p.(=) g.129913805C>T Copied from the Exome Variant Server MKI67_000442 46/13006 0/8600 46/4406 - - - - - - -
?/? c.868C>T r.(?) p.(Arg290Cys) g.129913804G>A Copied from the Exome Variant Server MKI67_000441 1/13006 0/8600 1/4406 - - - - - - -
?/? c.869G>A r.(?) p.(Arg290His) g.129913803C>T Copied from the Exome Variant Server MKI67_000440 40/13006 1/8600 39/4406 - - - - - - -
?/? c.895A>C r.(?) p.(Ser299Arg) g.129913777T>G Copied from the Exome Variant Server MKI67_000439 2/13006 0/8600 2/4406 - - - - - - -
?/? c.945G>T r.(?) p.(Gln315His) g.129913727C>A Copied from the Exome Variant Server MKI67_000438 2/13006 0/8600 2/4406 - - - - - - -
?/? c.957G>T r.(?) p.(Lys319Asn) g.129913715C>A Copied from the Exome Variant Server MKI67_000437 1/13006 1/8600 0/4406 - - - - - - -
?/? c.967G>A r.(?) p.(Val323Met) g.129913705C>T Copied from the Exome Variant Server MKI67_000436 15/13006 0/8600 15/4406 - - - - - - -
?/? c.1003G>A r.(?) p.(Ala335Thr) g.129913669C>T Copied from the Exome Variant Server MKI67_000435 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1016T>G r.(?) p.(Leu339Arg) g.129913656A>C Copied from the Exome Variant Server MKI67_000434 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1022A>T r.(?) p.(Glu341Val) g.129913650T>A Copied from the Exome Variant Server MKI67_000433 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1042C>A r.(?) p.(Pro348Thr) g.129913630G>T Copied from the Exome Variant Server MKI67_000432 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1140T>G r.(?) p.(Ser380Arg) g.129913532A>C Copied from the Exome Variant Server MKI67_000431 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1147T>C r.(?) p.(Phe383Leu) g.129913525A>G Copied from the Exome Variant Server MKI67_000430 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1175C>T r.(?) p.(Pro392Leu) g.129913497G>A Copied from the Exome Variant Server MKI67_000429 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1182G>A r.(=) p.(=) g.129913490C>T Copied from the Exome Variant Server MKI67_000428 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1198C>T r.(?) p.(Arg400*) g.129913474G>A Copied from the Exome Variant Server MKI67_000427 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1224A>C r.(=) p.(=) g.129913448T>G Copied from the Exome Variant Server MKI67_000426 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1246G>T r.(?) p.(Glu416*) g.129913426C>A Copied from the Exome Variant Server MKI67_000425 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1254C>G r.(=) p.(=) g.129913418G>C Copied from the Exome Variant Server MKI67_000424 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1255T>C r.(?) p.(Ser419Pro) g.129913417A>G Copied from the Exome Variant Server MKI67_000422 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1299G>A r.(=) p.(=) g.129913373C>T Copied from the Exome Variant Server MKI67_000420 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1304C>T r.(?) p.(Thr435Met) g.129913368G>A Copied from the Exome Variant Server MKI67_000418 19/13006 1/8600 18/4406 - - - - - - -
?/? c.1305G>A r.(=) p.(=) g.129913367C>T Copied from the Exome Variant Server MKI67_000416 26/13006 10/8600 16/4406 - - - - - - -
?/? c.1318C>T r.(?) p.(His440Tyr) g.129913354G>A Copied from the Exome Variant Server MKI67_000423 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1342_1343del r.(?) p.(Trp448Alafs*5) g.129913329_129913330del Copied from the Exome Variant Server MKI67_000421 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1349C>T r.(?) p.(Thr450Ile) g.129913323G>A Copied from the Exome Variant Server MKI67_000419 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1469G>T r.(?) p.(Gly490Val) g.129913203C>A Copied from the Exome Variant Server MKI67_000417 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1480+1G>A r.spl? p.? g.129913191C>T Copied from the Exome Variant Server MKI67_000415 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1481-33T>C r.(=) p.(=) g.129911899A>G Copied from the Exome Variant Server MKI67_000414 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1481-28C>G r.(=) p.(=) g.129911894G>C Copied from the Exome Variant Server MKI67_000413 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1481-12C>T r.(=) p.(=) g.129911878G>A Copied from the Exome Variant Server MKI67_000412 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1481-11C>T r.(=) p.(=) g.129911877G>A Copied from the Exome Variant Server MKI67_000411 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1481-3T>C r.spl? p.? g.129911869A>G Copied from the Exome Variant Server MKI67_000410 44/13006 0/8600 44/4406 - - - - - - -
?/? c.1482T>A r.(?) p.(Asn494Lys) g.129911865A>T Copied from the Exome Variant Server MKI67_000409 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1491G>C r.(?) p.(Glu497Asp) g.129911856C>G Copied from the Exome Variant Server MKI67_000408 2912/13006 1517/8600 1395/4406 - - - - - - -
?/? c.1513C>T r.(?) p.(Arg505Cys) g.129911834G>A Copied from the Exome Variant Server MKI67_000407 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1539A>T r.(?) p.(Arg513Ser) g.129911808T>A Copied from the Exome Variant Server MKI67_000406 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1574C>T r.(?) p.(Thr525Met) g.129911773G>A Copied from the Exome Variant Server MKI67_000405 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1598C>T r.(?) p.(Pro533Leu) g.129911749G>A Copied from the Exome Variant Server MKI67_000404 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1603A>G r.(?) p.(Lys535Glu) g.129911744T>C Copied from the Exome Variant Server MKI67_000403 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1604A>G r.(?) p.(Lys535Arg) g.129911743T>C Copied from the Exome Variant Server MKI67_000402 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1622T>A r.(?) p.(Met541Lys) g.129911725A>T Copied from the Exome Variant Server MKI67_000401 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1624C>G r.(?) p.(His542Asp) g.129911723G>C Copied from the Exome Variant Server MKI67_000400 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1628C>G r.(?) p.(Thr543Ser) g.129911719G>C Copied from the Exome Variant Server MKI67_000399 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1667A>C r.(?) p.(Gln556Pro) g.129910699T>G Copied from the Exome Variant Server MKI67_000398 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1668A>T r.(?) p.(Gln556His) g.129910698T>A Copied from the Exome Variant Server MKI67_000397 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1691G>T r.(?) p.(Gly564Val) g.129910675C>A Copied from the Exome Variant Server MKI67_000396 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1724G>A r.(?) p.(Ser575Asn) g.129910642C>T Copied from the Exome Variant Server MKI67_000395 7/13006 0/8600 7/4406 - - - - - - -
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