All transcript variants in gene FANCA

Information The variants shown are described using the NM_000135.2 transcript reference sequence.

619 entries on 7 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.-1C>T r.(=) p.(=) g.89883024G>A Copied from the Exome Variant Server FANCA_000615 1/10238 1/7000 0/3238
?/? c.17T>A r.(?) p.(Val6Asp) g.89883007A>T Copied from the Exome Variant Server FANCA_000614 519/10388 472/7106 47/3282
?/? c.21G>T r.(=) p.(=) g.89883003C>A Copied from the Exome Variant Server FANCA_000613 59/10302 1/7054 58/3248
?/? c.24C>G r.(?) p.(Asn8Lys) g.89883000G>C Copied from the Exome Variant Server FANCA_000612 328/10270 2/7020 326/3250
?/? c.80-51C>T r.(=) p.(=) g.89882445G>A Copied from the Exome Variant Server FANCA_000611 2/12996 0/8600 2/4396
?/? c.80-29G>A r.(=) p.(=) g.89882423C>T Copied from the Exome Variant Server FANCA_000610 1/12996 1/8600 0/4396
?/? c.80-26G>A r.(=) p.(=) g.89882420C>T Copied from the Exome Variant Server FANCA_000609 2/12996 0/8600 2/4396
?/? c.80-13C>T r.(=) p.(=) g.89882407G>A Copied from the Exome Variant Server FANCA_000608 10/12994 9/8600 1/4394
?/? c.81G>A r.(=) p.(=) g.89882393C>T Copied from the Exome Variant Server FANCA_000607 1/12996 1/8600 0/4396
?/? c.98A>G r.(?) p.(Glu33Gly) g.89882376T>C Copied from the Exome Variant Server FANCA_000606 1/12996 0/8600 1/4396
?/? c.115A>C r.(=) p.(=) g.89882359T>G Copied from the Exome Variant Server FANCA_000605 1/12996 0/8600 1/4396
?/? c.116G>C r.(?) p.(Arg39Thr) g.89882358C>G Copied from the Exome Variant Server FANCA_000604 1/12996 0/8600 1/4396
?/? c.133G>T r.(?) p.(Glu45*) g.89882341C>A Copied from the Exome Variant Server FANCA_000603 1/12996 0/8600 1/4396
?/? c.135A>G r.(=) p.(=) g.89882339T>C Copied from the Exome Variant Server FANCA_000602 1/12996 1/8600 0/4396
?/? c.169C>T r.(=) p.(=) g.89882305G>A Copied from the Exome Variant Server FANCA_000601 1/12996 0/8600 1/4396
?/? c.189+4A>G r.spl? p.? g.89882281T>C Copied from the Exome Variant Server FANCA_000600 1/12996 0/8600 1/4396
?/? c.189+5G>A r.spl? p.? g.89882280C>T Copied from the Exome Variant Server FANCA_000599 1/12996 0/8600 1/4396
?/? c.189+7G>A r.(=) p.(=) g.89882278C>T Copied from the Exome Variant Server FANCA_000598 1/12996 1/8600 0/4396
?/? c.189+11G>A r.(=) p.(=) g.89882274C>T Copied from the Exome Variant Server FANCA_000597 1/12996 1/8600 0/4396
?/? c.189+45G>A r.(=) p.(=) g.89882240C>T Copied from the Exome Variant Server FANCA_000596 1/12996 1/8600 0/4396
?/? c.190-55G>T r.(=) p.(=) g.89881076C>A Copied from the Exome Variant Server FANCA_000595 255/4564 0/3180 255/1384
?/? c.190-5T>G r.spl? p.? g.89881026A>C Copied from the Exome Variant Server FANCA_000594 1/12996 0/8600 1/4396
?/? c.200C>A r.(?) p.(Pro67Gln) g.89881011G>T Copied from the Exome Variant Server FANCA_000593 2/12996 2/8600 0/4396
?/? c.228A>G r.(=) p.(=) g.89880983T>C Copied from the Exome Variant Server FANCA_000592 1/12996 1/8600 0/4396
?/? c.237C>T r.(=) p.(=) g.89880974G>A Copied from the Exome Variant Server FANCA_000591 25/12996 0/8600 25/4396
?/? c.284-43C>G r.(=) p.(=) g.89877522G>C Copied from the Exome Variant Server FANCA_000590 1/12974 0/8582 1/4392
?/? c.284-40_284-39del r.(=) p.(=) g.89877518_89877519del Copied from the Exome Variant Server FANCA_000589 2/12500 2/8238 0/4262
?/? c.284-9G>A r.(=) p.(=) g.89877488C>T Copied from the Exome Variant Server FANCA_000588 1/12994 1/8598 0/4396
?/? c.284-12_284-8del r.(=) p.(=) g.89877487_89877491del Copied from the Exome Variant Server FANCA_000587 1/12510 1/8246 0/4264
?/? c.301C>G r.(?) p.(Gln101Glu) g.89877462G>C Copied from the Exome Variant Server FANCA_000586 1/12996 0/8600 1/4396
?/? c.308C>T r.(?) p.(Ser103Leu) g.89877455G>A Copied from the Exome Variant Server FANCA_000585 3/12996 0/8600 3/4396
?/? c.338C>T r.(?) p.(Ser113Leu) g.89877425G>A Copied from the Exome Variant Server FANCA_000584 1/12996 1/8600 0/4396
?/? c.377C>T r.(?) p.(Thr126Met) g.89877386G>A Copied from the Exome Variant Server FANCA_000583 5/12996 1/8600 4/4396
?/? c.385G>T r.(?) p.(Ala129Ser) g.89877378C>A Copied from the Exome Variant Server FANCA_000582 1/12996 0/8600 1/4396
?/? c.394A>T r.(?) p.(Ser132Cys) g.89877369T>A Copied from the Exome Variant Server FANCA_000581 1/12996 0/8600 1/4396
?/? c.399C>T r.(=) p.(=) g.89877364G>A Copied from the Exome Variant Server FANCA_000580 6/12996 0/8600 6/4396
?/? c.426+32C>A r.(=) p.(=) g.89877305G>T Copied from the Exome Variant Server FANCA_000579 12/12996 12/8600 0/4396
?/? c.426+38T>A r.(=) p.(=) g.89877299A>T Copied from the Exome Variant Server FANCA_000578 2/12996 2/8600 0/4396
?/? c.427-25T>A r.(=) p.(=) g.89877235A>T Copied from the Exome Variant Server FANCA_000577 677/12996 2/8600 675/4396
?/? c.437C>G r.(?) p.(Ser146Cys) g.89877200G>C Copied from the Exome Variant Server FANCA_000576 7/12996 0/8600 7/4396
?/? c.440C>T r.(?) p.(Ser147Phe) g.89877197G>A Copied from the Exome Variant Server FANCA_000575 1/12996 1/8600 0/4396
?/? c.445T>G r.(?) p.(Leu149Val) g.89877192A>C Copied from the Exome Variant Server FANCA_000574 1/12996 1/8600 0/4396
?/? c.449A>T r.(?) p.(Glu150Val) g.89877188T>A Copied from the Exome Variant Server FANCA_000573 1/12996 1/8600 0/4396
?/? c.480G>A r.(?) p.(Met160Ile) g.89877157C>T Copied from the Exome Variant Server FANCA_000572 4/12996 4/8600 0/4396
?/? c.488G>A r.(?) p.(Arg163His) g.89877149C>T Copied from the Exome Variant Server FANCA_000571 2/12996 1/8600 1/4396
?/? c.494C>T r.(?) p.(Ser165Phe) g.89877143G>A Copied from the Exome Variant Server FANCA_000570 1/12996 1/8600 0/4396
?/? c.505G>C r.(?) p.(Glu169Gln) g.89877132C>G Copied from the Exome Variant Server FANCA_000569 3/12996 0/8600 3/4396
?/? c.522+31A>G r.(=) p.(=) g.89877084T>C Copied from the Exome Variant Server FANCA_000568 1/12996 1/8600 0/4396
?/? c.522+39del r.(=) p.(=) g.89877076del Copied from the Exome Variant Server FANCA_000567 1/12518 0/8254 1/4264
?/? c.523-36del r.(=) p.(=) g.89874811del Copied from the Exome Variant Server FANCA_000566 7/12510 4/8250 3/4260
?/? c.523-36dup r.(=) p.(=) g.89874811dup Copied from the Exome Variant Server FANCA_000565 11/12510 3/8250 8/4260
?/? c.542C>T r.(?) p.(Ala181Val) g.89874756G>A Copied from the Exome Variant Server FANCA_000564 742/12996 4/8600 738/4396
?/? c.543G>A r.(=) p.(=) g.89874755C>T Copied from the Exome Variant Server FANCA_000563 11/12996 0/8600 11/4396
?/? c.544G>A r.(?) p.(Val182Met) g.89874754C>T Copied from the Exome Variant Server FANCA_000562 1/12996 0/8600 1/4396
?/? c.558C>A r.(?) p.(His186Gln) g.89874740G>T Copied from the Exome Variant Server FANCA_000561 1/12996 0/8600 1/4396
?/? c.574A>C r.(?) p.(Ser192Arg) g.89874724T>G Copied from the Exome Variant Server FANCA_000560 1/12996 1/8600 0/4396
?/? c.576C>T r.(=) p.(=) g.89874722G>A Copied from the Exome Variant Server FANCA_000559 1/12996 0/8600 1/4396
?/? c.577C>G r.(?) p.(Leu193Val) g.89874721G>C Copied from the Exome Variant Server FANCA_000558 4/12996 4/8600 0/4396
?/? c.596+6G>A r.(=) p.(=) g.89874696C>T Copied from the Exome Variant Server FANCA_000557 1/12996 1/8600 0/4396
?/? c.596+12A>G r.(=) p.(=) g.89874690T>C Copied from the Exome Variant Server FANCA_000556 1/12996 1/8600 0/4396
?/? c.596+23G>T r.(=) p.(=) g.89874679C>A Copied from the Exome Variant Server FANCA_000555 2/12996 0/8600 2/4396
?/? c.597-49A>T r.(=) p.(=) g.89871849T>A Copied from the Exome Variant Server FANCA_000554 1/12996 0/8600 1/4396
?/? c.597-35T>A r.(=) p.(=) g.89871835A>T Copied from the Exome Variant Server FANCA_000553 1/12996 1/8600 0/4396
?/? c.597-18C>T r.(=) p.(=) g.89871818G>A Copied from the Exome Variant Server FANCA_000552 4/12996 0/8600 4/4396
?/? c.597-1G>C r.spl? p.? g.89871801C>G Copied from the Exome Variant Server FANCA_000551 1/12996 1/8600 0/4396
?/? c.601C>T r.(?) p.(Pro201Ser) g.89871796G>A Copied from the Exome Variant Server FANCA_000550 5/12996 5/8600 0/4396
?/? c.623C>T r.(?) p.(Ser208Leu) g.89871774G>A Copied from the Exome Variant Server FANCA_000549 40/12996 0/8600 40/4396
?/? c.661A>G r.(?) p.(Met221Val) g.89871736T>C Copied from the Exome Variant Server FANCA_000548 2/12996 2/8600 0/4396
?/? c.675C>T r.(=) p.(=) g.89871722G>A Copied from the Exome Variant Server FANCA_000547 1/12996 1/8600 0/4396
?/? c.679C>G r.(?) p.(His227Asp) g.89871718G>C Copied from the Exome Variant Server FANCA_000546 2/12996 2/8600 0/4396
?/? c.685G>A r.(?) p.(Asp229Asn) g.89871712C>T Copied from the Exome Variant Server FANCA_000545 1/12996 0/8600 1/4396
?/? c.688G>A r.(?) p.(Val230Ile) g.89871709C>T Copied from the Exome Variant Server FANCA_000544 3/12996 3/8600 0/4396
?/? c.694A>C r.(=) p.(=) g.89871703T>G Copied from the Exome Variant Server FANCA_000543 26/12996 22/8600 4/4396
?/? c.701T>C r.(?) p.(Met234Thr) g.89871696A>G Copied from the Exome Variant Server FANCA_000542 1/12996 0/8600 1/4396
?/? c.709+9A>G r.(=) p.(=) g.89871679T>C Copied from the Exome Variant Server FANCA_000541 1/12996 1/8600 0/4396
?/? c.709+20C>T r.(=) p.(=) g.89871668G>A Copied from the Exome Variant Server FANCA_000540 2/12996 0/8600 2/4396
?/? c.709+21G>T r.(=) p.(=) g.89871667C>A Copied from the Exome Variant Server FANCA_000539 1/12996 0/8600 1/4396
?/? c.710-41C>T r.(=) p.(=) g.89869790G>A Copied from the Exome Variant Server FANCA_000538 1/12996 1/8600 0/4396
?/? c.710-35T>A r.(=) p.(=) g.89869784A>T Copied from the Exome Variant Server FANCA_000537 1/12996 1/8600 0/4396
?/? c.710-12A>G r.(=) p.(=) g.89869761T>C Copied from the Exome Variant Server FANCA_000536 9042/12996 5057/8600 3985/4396
?/? c.721A>G r.(?) p.(Met241Val) g.89869738T>C Copied from the Exome Variant Server FANCA_000535 1/12996 1/8600 0/4396
?/? c.755A>G r.(?) p.(Asp252Gly) g.89869704T>C Copied from the Exome Variant Server FANCA_000534 239/12996 2/8600 237/4396
?/? c.767C>A r.(?) p.(Thr256Asn) g.89869692G>T Copied from the Exome Variant Server FANCA_000533 1/12996 1/8600 0/4396
?/? c.786G>A r.(?) p.(Met262Ile) g.89869673C>T Copied from the Exome Variant Server FANCA_000532 1/12996 0/8600 1/4396
?/? c.789G>A r.(=) p.(=) g.89869670C>T Copied from the Exome Variant Server FANCA_000531 4/12996 0/8600 4/4396
?/? c.792+33G>A r.(=) p.(=) g.89869634C>T Copied from the Exome Variant Server FANCA_000530 3/12994 0/8600 3/4394
?/? c.792+35A>G r.(=) p.(=) g.89869632T>C Copied from the Exome Variant Server FANCA_000529 2/12994 2/8600 0/4394
?/? c.792+42G>A r.(=) p.(=) g.89869625C>T Copied from the Exome Variant Server FANCA_000528 2/12994 2/8600 0/4394
?/? c.792+45C>G r.(=) p.(=) g.89869622G>C Copied from the Exome Variant Server FANCA_000526 1/12994 0/8600 1/4394
?/? c.792+55G>T r.(=) p.(=) g.89869612C>A Copied from the Exome Variant Server FANCA_000619 1/4566 0/3182 1/1384
?/? c.793-57_793-56insG r.(=) p.(=) g.89866102_89866103insC Copied from the Exome Variant Server FANCA_000527 1/12518 1/8254 0/4264
?/? c.793-29A>C r.(=) p.(=) g.89866075T>G Copied from the Exome Variant Server FANCA_000525 7/12996 6/8600 1/4396
?/? c.793-10A>T r.(=) p.(=) g.89866056T>A Copied from the Exome Variant Server FANCA_000524 1/12996 0/8600 1/4396
?/? c.796A>G r.(?) p.(Thr266Ala) g.89866043T>C Copied from the Exome Variant Server FANCA_000523 6576/12996 3386/8600 3190/4396
?/? c.801T>C r.(=) p.(=) g.89866038A>G Copied from the Exome Variant Server FANCA_000522 2/12996 0/8600 2/4396
?/? c.811C>T r.(?) p.(Gln271*) g.89866028G>A Copied from the Exome Variant Server FANCA_000521 1/12996 1/8600 0/4396
?/? c.826+11T>G r.(=) p.(=) g.89866002A>C Copied from the Exome Variant Server FANCA_000520 1/12996 1/8600 0/4396
?/? c.826+13C>G r.(=) p.(=) g.89866000G>C Copied from the Exome Variant Server FANCA_000519 2/12996 0/8600 2/4396
?/? c.826+17G>A r.(=) p.(=) g.89865996C>T Copied from the Exome Variant Server FANCA_000518 2/12996 2/8600 0/4396
?/? c.827-57C>G r.(=) p.(=) g.89865697G>C Copied from the Exome Variant Server FANCA_000517 7/4566 0/3182 7/1384
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