All transcript variants in gene MYBBP1A

Information The variants shown are described using the NM_014520.3 transcript reference sequence.

503 entries on 6 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     
?/? c.-38G>A r.(=) p.(=) g.4458657C>T Copied from the Exome Variant Server MYBBP1A_000503 406/12372 1/8208 405/4164
?/? c.-36G>A r.(=) p.(=) g.4458655C>T Copied from the Exome Variant Server MYBBP1A_000502 1/12494 0/8296 1/4198
?/? c.-31C>A r.(=) p.(=) g.4458650G>T Copied from the Exome Variant Server MYBBP1A_000501 4/12686 4/8402 0/4284
?/? c.-16G>A r.(=) p.(=) g.4458635C>T Copied from the Exome Variant Server MYBBP1A_000500 177/12852 151/8520 26/4332
?/? c.-3G>A r.(=) p.(=) g.4458622C>T Copied from the Exome Variant Server MYBBP1A_000499 64/12922 2/8560 62/4362
?/? c.5A>C r.(?) p.(Glu2Ala) g.4458615T>G Copied from the Exome Variant Server MYBBP1A_000498 3/12936 0/8570 3/4366
?/? c.22C>G r.(?) p.(Gln8Glu) g.4458598G>C Copied from the Exome Variant Server MYBBP1A_000497 2787/12982 1775/8586 1012/4396
?/? c.26C>T r.(?) p.(Pro9Leu) g.4458594G>A Copied from the Exome Variant Server MYBBP1A_000496 74/12982 0/8588 74/4394
?/? c.33G>A r.(=) p.(=) g.4458587C>T Copied from the Exome Variant Server MYBBP1A_000495 1/12988 1/8592 0/4396
?/? c.50A>G r.(?) p.(Gln17Arg) g.4458570T>C Copied from the Exome Variant Server MYBBP1A_000494 3/12996 0/8596 3/4400
?/? c.60C>A r.(=) p.(=) g.4458560G>T Copied from the Exome Variant Server MYBBP1A_000493 17/13000 0/8598 17/4402
?/? c.68C>T r.(?) p.(Ala23Val) g.4458552G>A Copied from the Exome Variant Server MYBBP1A_000492 1/12996 0/8596 1/4400
?/? c.80G>A r.(?) p.(Gly27Asp) g.4458540C>T Copied from the Exome Variant Server MYBBP1A_000491 3/13000 2/8598 1/4402
?/? c.84A>G r.(=) p.(=) g.4458536T>C Copied from the Exome Variant Server MYBBP1A_000490 79/13002 2/8598 77/4404
?/? c.87G>A r.(=) p.(=) g.4458533C>T Copied from the Exome Variant Server MYBBP1A_000489 1/13004 1/8598 0/4406
?/? c.104T>C r.(?) p.(Phe35Ser) g.4458516A>G Copied from the Exome Variant Server MYBBP1A_000488 1/12994 1/8592 0/4402
?/? c.105C>A r.(?) p.(Phe35Leu) g.4458515G>T Copied from the Exome Variant Server MYBBP1A_000487 260/12994 241/8592 19/4402
?/? c.161C>A r.(?) p.(Thr54Lys) g.4458459G>T Copied from the Exome Variant Server MYBBP1A_000486 1/12994 0/8598 1/4396
?/? c.172C>T r.(=) p.(=) g.4458448G>A Copied from the Exome Variant Server MYBBP1A_000485 1/12996 1/8596 0/4400
?/? c.199-51G>T r.(=) p.(=) g.4458302C>A Copied from the Exome Variant Server MYBBP1A_000484 9950/13002 6907/8600 3043/4402
?/? c.199-43C>G r.(=) p.(=) g.4458294G>C Copied from the Exome Variant Server MYBBP1A_000483 1/13004 1/8600 0/4404
?/? c.199-32C>T r.(=) p.(=) g.4458283G>A Copied from the Exome Variant Server MYBBP1A_000482 3/13004 3/8600 0/4404
?/? c.199-5C>T r.spl? p.? g.4458256G>A Copied from the Exome Variant Server MYBBP1A_000481 63/13006 56/8600 7/4406
?/? c.206A>G r.(?) p.(Glu69Gly) g.4458244T>C Copied from the Exome Variant Server MYBBP1A_000480 1/13006 0/8600 1/4406
?/? c.216T>A r.(?) p.(Tyr72*) g.4458234A>T Copied from the Exome Variant Server MYBBP1A_000479 1/13006 1/8600 0/4406
?/? c.247G>A r.(?) p.(Val83Ile) g.4458203C>T Copied from the Exome Variant Server MYBBP1A_000478 1/13006 1/8600 0/4406
?/? c.266G>A r.(?) p.(Arg89Gln) g.4458184C>T Copied from the Exome Variant Server MYBBP1A_000477 1/13006 1/8600 0/4406
?/? c.294+27C>T r.(=) p.(=) g.4458129G>A Copied from the Exome Variant Server MYBBP1A_000476 1/13002 1/8598 0/4404
?/? c.294+31C>T r.(=) p.(=) g.4458125G>A Copied from the Exome Variant Server MYBBP1A_000475 1/12996 1/8596 0/4400
?/? c.294+47_294+48insG r.(=) p.(=) g.4458108_4458109insC Copied from the Exome Variant Server MYBBP1A_000474 2/12502 0/8246 2/4256
?/? c.295-54G>A r.(=) p.(=) g.4457627C>T Copied from the Exome Variant Server MYBBP1A_000473 1/4566 0/3182 1/1384
?/? c.295-48G>A r.(=) p.(=) g.4457621C>T Copied from the Exome Variant Server MYBBP1A_000472 2/13006 0/8600 2/4406
?/? c.295-44C>T r.(=) p.(=) g.4457617G>A Copied from the Exome Variant Server MYBBP1A_000471 699/13002 424/8596 275/4406
?/? c.295-38C>A r.(=) p.(=) g.4457611G>T Copied from the Exome Variant Server MYBBP1A_000470 311/13004 138/8598 173/4406
?/? c.295-7C>T r.(=) p.(=) g.4457580G>A Copied from the Exome Variant Server MYBBP1A_000469 1272/13006 793/8600 479/4406
?/? c.297G>A r.(=) p.(=) g.4457571C>T Copied from the Exome Variant Server MYBBP1A_000468 498/13006 345/8600 153/4406
?/? c.346C>T r.(?) p.(Gln116*) g.4457522G>A Copied from the Exome Variant Server MYBBP1A_000467 1/13006 1/8600 0/4406
?/? c.358G>C r.(?) p.(Asp120His) g.4457510C>G Copied from the Exome Variant Server MYBBP1A_000466 99/13006 92/8600 7/4406
?/? c.361C>T r.(=) p.(=) g.4457507G>A Copied from the Exome Variant Server MYBBP1A_000465 2/13006 0/8600 2/4406
?/? c.364C>T r.(?) p.(His122Tyr) g.4457504G>A Copied from the Exome Variant Server MYBBP1A_000464 1/13006 1/8600 0/4406
?/? c.378+7G>A r.(=) p.(=) g.4457483C>T Copied from the Exome Variant Server MYBBP1A_000463 1/13006 1/8600 0/4406
?/? c.378+20G>A r.(=) p.(=) g.4457470C>T Copied from the Exome Variant Server MYBBP1A_000462 2/13006 2/8600 0/4406
?/? c.378+39G>A r.(=) p.(=) g.4457451C>T Copied from the Exome Variant Server MYBBP1A_000461 1/13006 0/8600 1/4406
?/? c.379-42G>A r.(=) p.(=) g.4457430C>T Copied from the Exome Variant Server MYBBP1A_000460 353/13006 140/8600 213/4406
?/? c.379-40T>C r.(=) p.(=) g.4457428A>G Copied from the Exome Variant Server MYBBP1A_000459 351/13006 140/8600 211/4406
?/? c.379-14G>A r.(=) p.(=) g.4457402C>T Copied from the Exome Variant Server MYBBP1A_000458 1/13006 1/8600 0/4406
?/? c.388A>G r.(?) p.(Arg130Gly) g.4457379T>C Copied from the Exome Variant Server MYBBP1A_000457 1/13006 1/8600 0/4406
?/? c.394G>A r.(?) p.(Ala132Thr) g.4457373C>T Copied from the Exome Variant Server MYBBP1A_000456 1/13006 0/8600 1/4406
?/? c.395C>T r.(?) p.(Ala132Val) g.4457372G>A Copied from the Exome Variant Server MYBBP1A_000455 1/13006 0/8600 1/4406
?/? c.404C>G r.(?) p.(Ala135Gly) g.4457363G>C Copied from the Exome Variant Server MYBBP1A_000454 12/13006 12/8600 0/4406
?/? c.424G>A r.(?) p.(Ala142Thr) g.4457343C>T Copied from the Exome Variant Server MYBBP1A_000453 5/13006 1/8600 4/4406
?/? c.453+13G>A r.(=) p.(=) g.4457301C>T Copied from the Exome Variant Server MYBBP1A_000452 2/13006 2/8600 0/4406
?/? c.453+25_453+26insG r.(=) p.(=) g.4457288_4457289insC Copied from the Exome Variant Server MYBBP1A_000451 7/12518 1/8254 6/4264
?/? c.453+33G>T r.(=) p.(=) g.4457281C>A Copied from the Exome Variant Server MYBBP1A_000450 2/13006 1/8600 1/4406
?/? c.453+35T>C r.(=) p.(=) g.4457279A>G Copied from the Exome Variant Server MYBBP1A_000449 3/13006 0/8600 3/4406
?/? c.453+37G>T r.(=) p.(=) g.4457277C>A Copied from the Exome Variant Server MYBBP1A_000448 1/13006 0/8600 1/4406
?/? c.453+51G>C r.(=) p.(=) g.4457263C>G Copied from the Exome Variant Server MYBBP1A_000447 1/13006 1/8600 0/4406
?/? c.454-41G>A r.(=) p.(=) g.4457253C>T Copied from the Exome Variant Server MYBBP1A_000446 3/13006 2/8600 1/4406
?/? c.454-25C>T r.(=) p.(=) g.4457237G>A Copied from the Exome Variant Server MYBBP1A_000445 1/13004 1/8600 0/4404
?/? c.477G>A r.(=) p.(=) g.4457189C>T Copied from the Exome Variant Server MYBBP1A_000444 1/13006 0/8600 1/4406
?/? c.495C>T r.(=) p.(=) g.4457171G>A Copied from the Exome Variant Server MYBBP1A_000443 2/13006 2/8600 0/4406
?/? c.529C>T r.(?) p.(Pro177Ser) g.4457137G>A Copied from the Exome Variant Server MYBBP1A_000442 1/13006 1/8600 0/4406
?/? c.532C>G r.(?) p.(Arg178Gly) g.4457134G>C Copied from the Exome Variant Server MYBBP1A_000441 4/13006 2/8600 2/4406
?/? c.533G>A r.(?) p.(Arg178Gln) g.4457133C>T Copied from the Exome Variant Server MYBBP1A_000440 1/13006 1/8600 0/4406
?/? c.550A>G r.(?) p.(Ile184Val) g.4457116T>C Copied from the Exome Variant Server MYBBP1A_000439 380/13006 139/8600 241/4406
?/? c.552C>T r.(=) p.(=) g.4457114G>A Copied from the Exome Variant Server MYBBP1A_000438 1/13006 1/8600 0/4406
?/? c.555C>T r.(=) p.(=) g.4457111G>A Copied from the Exome Variant Server MYBBP1A_000437 3/13006 0/8600 3/4406
?/? c.561+14A>G r.(=) p.(=) g.4457091T>C Copied from the Exome Variant Server MYBBP1A_000436 1/13006 0/8600 1/4406
?/? c.561+21C>T r.(=) p.(=) g.4457084G>A Copied from the Exome Variant Server MYBBP1A_000435 1/13004 1/8600 0/4404
?/? c.561+26C>T r.(=) p.(=) g.4457079G>A Copied from the Exome Variant Server MYBBP1A_000434 40/13004 0/8600 40/4404
?/? c.562-38G>A r.(=) p.(=) g.4455959C>T Copied from the Exome Variant Server MYBBP1A_000433 2/13004 0/8600 2/4404
?/? c.562-24G>A r.(=) p.(=) g.4455945C>T Copied from the Exome Variant Server MYBBP1A_000432 1/13006 1/8600 0/4406
?/? c.562-19C>T r.(=) p.(=) g.4455940G>A Copied from the Exome Variant Server MYBBP1A_000431 1/13006 1/8600 0/4406
?/? c.562-12C>T r.(=) p.(=) g.4455933G>A Copied from the Exome Variant Server MYBBP1A_000430 1/13006 0/8600 1/4406
?/? c.562-5C>T r.spl? p.? g.4455926G>A Copied from the Exome Variant Server MYBBP1A_000429 869/13006 8/8600 861/4406
?/? c.567G>A r.(=) p.(=) g.4455916C>T Copied from the Exome Variant Server MYBBP1A_000428 2/13006 2/8600 0/4406
?/? c.572C>T r.(?) p.(Ala191Val) g.4455911G>A Copied from the Exome Variant Server MYBBP1A_000427 7/13006 6/8600 1/4406
?/? c.581A>G r.(?) p.(Gln194Arg) g.4455902T>C Copied from the Exome Variant Server MYBBP1A_000426 1/13006 1/8600 0/4406
?/? c.610G>A r.(?) p.(Asp204Asn) g.4455873C>T Copied from the Exome Variant Server MYBBP1A_000425 3/13006 0/8600 3/4406
?/? c.632C>G r.(?) p.(Ser211Cys) g.4455851G>C Copied from the Exome Variant Server MYBBP1A_000424 3/13006 3/8600 0/4406
?/? c.634C>T r.(?) p.(Pro212Ser) g.4455849G>A Copied from the Exome Variant Server MYBBP1A_000423 1/13006 0/8600 1/4406
?/? c.640C>T r.(?) p.(Gln214*) g.4455843G>A Copied from the Exome Variant Server MYBBP1A_000422 1/13006 0/8600 1/4406
?/? c.678C>G r.(=) p.(=) g.4455805G>C Copied from the Exome Variant Server MYBBP1A_000421 1/13006 1/8600 0/4406
?/? c.700G>T r.(?) p.(Gly234*) g.4455783C>A Copied from the Exome Variant Server MYBBP1A_000420 1/13006 0/8600 1/4406
?/? c.705C>T r.(=) p.(=) g.4455778G>A Copied from the Exome Variant Server MYBBP1A_000419 3/13006 1/8600 2/4406
?/? c.717C>T r.(=) p.(=) g.4455766G>A Copied from the Exome Variant Server MYBBP1A_000418 1/13006 1/8600 0/4406
?/? c.720A>G r.(=) p.(=) g.4455763T>C Copied from the Exome Variant Server MYBBP1A_000417 2/13006 2/8600 0/4406
?/? c.737+12G>A r.(=) p.(=) g.4455734C>T Copied from the Exome Variant Server MYBBP1A_000416 1/13006 0/8600 1/4406
?/? c.737+27C>T r.(=) p.(=) g.4455719G>A Copied from the Exome Variant Server MYBBP1A_000415 1/13006 0/8600 1/4406
?/? c.737+36del r.(=) p.(=) g.4455710del Copied from the Exome Variant Server MYBBP1A_000414 9/12516 5/8252 4/4264
?/? c.738-21T>C r.(=) p.(=) g.4455608A>G Copied from the Exome Variant Server MYBBP1A_000413 1/13006 1/8600 0/4406
?/? c.738-9C>T r.(=) p.(=) g.4455596G>A Copied from the Exome Variant Server MYBBP1A_000412 3/13006 0/8600 3/4406
?/? c.748G>A r.(?) p.(Val250Met) g.4455577C>T Copied from the Exome Variant Server MYBBP1A_000411 55/13006 0/8600 55/4406
?/? c.750G>T r.(=) p.(=) g.4455575C>A Copied from the Exome Variant Server MYBBP1A_000410 1/13006 0/8600 1/4406
?/? c.751C>T r.(=) p.(=) g.4455574G>A Copied from the Exome Variant Server MYBBP1A_000409 4/13006 0/8600 4/4406
?/? c.762C>T r.(=) p.(=) g.4455563G>A Copied from the Exome Variant Server MYBBP1A_000408 1/13006 0/8600 1/4406
?/? c.767C>T r.(?) p.(Ser256Phe) g.4455558G>A Copied from the Exome Variant Server MYBBP1A_000407 1/13006 1/8600 0/4406
?/? c.777G>T r.(?) p.(Lys259Asn) g.4455548C>A Copied from the Exome Variant Server MYBBP1A_000406 2/13006 1/8600 1/4406
?/? c.803C>T r.(?) p.(Ala268Val) g.4455522G>A Copied from the Exome Variant Server MYBBP1A_000405 1/13006 1/8600 0/4406
?/? c.825A>G r.(=) p.(=) g.4455500T>C Copied from the Exome Variant Server MYBBP1A_000404 12884/13006 8598/8600 4286/4406
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