ATAVDB
Home About Terms Contact
 Sign In

Gene: ENTHD1

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
22-40139697-G-C p.Ser604* stop_gained ENTHD1 1 80570 1.24116E-5 40285 0 NA
22-40139699-G-T p.Ser603Arg missense ENTHD1 1 80564 1.24125E-5 40282 0 4.04338E-6
22-40139704-C-A p.Gly602Trp missense ENTHD1 1 80586 1.24091E-5 40293 0 1.16404E-4
22-40139712-GA-TT p.Ser599Asn missense ENTHD1 1 80620 1.24039E-5 40310 0 NA
22-40139719-G-T p.Pro597Thr missense ENTHD1 1 80648 1.23996E-5 40324 0 3.18492E-5
22-40139720-G-A p.Val596Val synonymous ENTHD1 1 80652 1.23989E-5 40326 0 3.18492E-5
22-40139732-C-A p.Gln592His missense ENTHD1 1 80686 1.23937E-5 40343 0 NA
22-40139735-G-C p.Ser591Arg missense ENTHD1 1 80690 1.23931E-5 40345 0 NA
22-40139743-G-C p.Gln589Glu missense ENTHD1 1 80720 1.23885E-5 40360 0 NA
22-40139763-C-T p.Ser582Asn missense ENTHD1 1 80768 1.23811E-5 40384 0 NA
22-40139769-A-G p.Leu580Ser missense ENTHD1 1 80782 1.2379E-5 40391 0 3.18492E-5
22-40139781-A-G p.Ile576Thr missense ENTHD1 1 80774 1.23802E-5 40387 0 NA
22-40139786-A-G p.Asn574Asn synonymous ENTHD1 1 80784 1.23787E-5 40392 0 NA
22-40139790-A-C p.Leu573Arg missense ENTHD1 2 80788 2.47562E-5 40394 0 NA
22-40139796-T-C p.Gln571Arg missense ENTHD1 5 80794 6.18858E-5 40397 0 3.18552E-5
22-40139810-C-T p.Leu566Leu synonymous ENTHD1 1 80820 1.23732E-5 40410 0 4.37699E-5
22-40139819-A-G p.His563His synonymous ENTHD1 2 80810 2.47494E-5 40405 0 3.97928E-6
22-40139825-T-C p.Arg561Arg synonymous ENTHD1 8 80794 9.90173E-5 40397 0 9.55353E-5
22-40139826-C-G p.Arg561Thr missense ENTHD1 1 80798 1.23765E-5 40399 0 NA
22-40139830-C-T p.Ala560Thr missense ENTHD1 6 80786 7.42703E-5 40393 0 1.59189E-5
22-40139834-C-T p.Ala558Ala synonymous ENTHD1 2 80794 2.47543E-5 40397 0 6.59272E-5
22-40139838-C-T p.Arg557His missense ENTHD1 1 80790 1.23778E-5 40395 0 7.95995E-6
22-40139839-G-A p.Arg557Cys missense ENTHD1 3 80782 3.7137E-5 40391 0 6.37227E-5
22-40139852-TAAAAG-T p.Leu551fs frameshift ENTHD1 1 80784 1.23787E-5 40392 0 NA
22-40139861-A-G p.Ser549Ser synonymous ENTHD1 2 80766 2.47629E-5 40383 0 7.96052E-6
22-40139863-T-C p.Ser549Gly missense ENTHD1 1 80760 1.23824E-5 40380 0 1.99014E-5
22-40139865-A-G p.Ile548Thr missense ENTHD1 62 80766 7.6765E-4 40383 0 0.00146487
22-40139875-T-G p.Lys545Gln missense ENTHD1 1 80760 1.23824E-5 40380 0 NA
22-40139892-G-A p.Pro539Leu missense ENTHD1 1 80732 1.23867E-5 40366 0 8.24797E-6
22-40139894-G-A p.Phe538Phe synonymous ENTHD1 2 80716 2.47782E-5 40358 0 3.98191E-6
22-40139896-A-G p.Phe538Leu missense ENTHD1 1 80710 1.239E-5 40355 0 NA
22-40139911-G-A p.Gln533* stop_gained ENTHD1 1 80684 1.2394E-5 40342 0 NA
22-40139915-A-G p.Gly531Gly synonymous ENTHD1 2 80674 2.47911E-5 40337 0 8.25042E-6
22-40139968-C-T p.Gly514Arg missense ENTHD1 2 80660 2.47954E-5 40330 0 1.65142E-5
22-40139979-C-T p.Ser510Asn missense ENTHD1 1 80682 1.23943E-5 40341 0 6.25E-4
22-40139984-A-T p.Ile508Ile synonymous ENTHD1 5 80682 6.19717E-5 40341 0 3.05427E-4
22-40139989-G-A p.His507Tyr missense ENTHD1 7 80704 8.67367E-5 40352 0 5.97676E-5
22-40139991-CTT-C p.Ile505fs frameshift ENTHD1 1 80710 1.239E-5 40355 0 9.55536E-5
22-40139992-T-G p.Ser506Arg missense ENTHD1 2 80716 2.47782E-5 40358 0 3.9846E-6
22-40139999-C-G p.Lys503Asn missense ENTHD1 1 80756 1.2383E-5 40378 0 NA
22-40140021-T-C p.Asn496Ser missense ENTHD1 1 80786 1.23784E-5 40393 0 3.9846E-6
22-40140022-T-G p.Asn496His missense ENTHD1 2 80796 2.47537E-5 40398 0 8.25287E-6
22-40140037-G-A p.Leu491Leu synonymous ENTHD1 2 80802 2.47519E-5 40401 0 3.18451E-5
22-40140042-T-C p.Asn489Ser missense ENTHD1 15 80806 1.8563E-4 40403 0 3.82166E-4
22-40140046-G-A p.Leu488Phe missense ENTHD1 1 80810 1.23747E-5 40405 0 6.25E-4
22-40140058-C-T p.Glu484Lys missense ENTHD1 1 80812 1.23744E-5 40406 0 2.47574E-5
22-40140062-T-C p.Val482Val synonymous ENTHD1 1 80808 1.2375E-5 40404 0 NA
22-40140065-A-T p.Asp481Glu missense ENTHD1 1 80800 1.23762E-5 40400 0 3.18492E-5
22-40140069-G-C p.Ser480Cys missense ENTHD1 1 80798 1.23765E-5 40399 0 3.1841E-5
22-40140072-GAC-G p.Ser479fs frameshift ENTHD1 1 80798 1.23765E-5 40399 0 NA
22-40140075-A-G p.Val478Ala missense ENTHD1 1 80788 1.23781E-5 40394 0 NA
22-40140080-GC-G p.Gly476fs frameshift ENTHD1 1 80756 1.2383E-5 40378 0 1.19497E-5
22-40140080-G-T p.Gly476Gly synonymous ENTHD1 3 80756 3.71489E-5 40378 0 3.18512E-5
22-40140083-C-G p.Arg475Ser missense ENTHD1 1 80742 1.23851E-5 40371 0 NA
22-40140090-G-A p.Ala473Val missense ENTHD1 2 80742 2.47703E-5 40371 0 1.64976E-5
22-40140106-G-A p.Leu468Leu synonymous ENTHD1 1 80686 1.23937E-5 40343 0 NA
22-40140106-G-T p.Leu468Met missense ENTHD1 1 80686 1.23937E-5 40343 0 NA
22-40140107-C-T p.Lys467Lys synonymous ENTHD1 1 80682 1.23943E-5 40341 0 2.4739E-5
22-40140123-T-G p.Glu462Ala missense ENTHD1 9 80668 1.11568E-4 40334 0 5.03525E-4
22-40140125-A-G p.Asp461Asp synonymous ENTHD1 1 80680 1.23946E-5 40340 0 3.98153E-6
22-40140129-T-G p.Lys460Thr missense ENTHD1 1 80688 1.23934E-5 40344 0 NA
22-40140130-TA-T p.Phe459fs frameshift ENTHD1 1 80686 1.23937E-5 40343 0 1.64902E-5
22-40140136-A-G p.Ser458Pro missense ENTHD1 1 80696 1.23922E-5 40348 0 8.24348E-6
22-40140137-G-T p.Thr457Thr synonymous ENTHD1 31 80694 3.84167E-4 40347 0 0.00153307
22-40140137-G-A p.Thr457Thr synonymous ENTHD1 2 80694 2.4785E-5 40347 0 NA
22-40140138-G-A p.Thr457Ile missense ENTHD1 1 80696 1.23922E-5 40348 0 9.06708E-5
22-40140152-T-C p.Gln452Gln synonymous ENTHD1 1 80754 1.23833E-5 40377 0 NA
22-40140163-G-A p.Leu449Leu synonymous ENTHD1 9 80762 1.11439E-4 40381 0 5.03525E-4
22-40140166-T-C p.Thr448Ala missense ENTHD1 31 80758 3.83863E-4 40379 0 5.10237E-4
22-40140176-A-G p.Pro444Pro synonymous ENTHD1 1 80808 1.2375E-5 40404 0 NA
22-40140181-C-T p.Gly443Arg missense ENTHD1 6 80826 7.42335E-5 40413 0 1.15462E-4
22-40140182-G-A p.Ala442Ala synonymous ENTHD1 1 80838 1.23704E-5 40419 0 2.38855E-5
22-40140223-A-G p.Ser429Pro missense ENTHD1 1 80896 1.23616E-5 40448 0 NA
22-40140227-T-C p.Leu427Leu synonymous ENTHD1 1 80900 1.23609E-5 40450 0 NA
22-40140244-T-C p.Met422Val missense ENTHD1 2 80852 2.47366E-5 40426 0 8.28404E-6
22-40140246-G-T p.Ser421Tyr missense ENTHD1 2 80836 2.47415E-5 40418 0 8.29187E-6
22-40140264-G-A p.Ser415Phe missense ENTHD1 1 80696 1.23922E-5 40348 0 8.37381E-6
22-40140295-T-C c.1220-7A>G splice_region ENTHD1 1 80018 1.24972E-5 40009 0 NA
22-40161216-TGGCAGACTCACCCC-T p.Arg406_Val407delinsLeu splice_donor ENTHD1 6 80160 7.48503E-5 40080 0 0.0012385
22-40161217-GGCAGAC-G c.1219+5_1219+10delGTCTGC splice_region ENTHD1 3 80246 3.7385E-5 40123 0 5.78057E-5
22-40161221-G-C c.1219+7C>G splice_region ENTHD1 6 80378 7.46473E-5 40189 0 2.77654E-4
22-40161224-TCACCCC-T p.Arg406_Val407delinsLeu splice_donor ENTHD1 2 80482 2.48503E-5 40241 0 5.2556E-5
22-40161227-C-A c.1219+1G>T splice_donor ENTHD1 2 80572 2.48225E-5 40286 0 4.61919E-6
22-40161230-C-T p.Arg406Gln missense+splice_region ENTHD1 5 80576 6.20532E-5 40288 0 0.00101112
22-40161231-G-A p.Arg406Trp missense ENTHD1 13 80674 1.61142E-4 40337 0 2.23828E-4
22-40161235-GGT-G p.Thr404fs frameshift ENTHD1 4 80706 4.95626E-5 40353 0 3.3214E-4
22-40161242-T-C p.Lys402Arg missense ENTHD1 7 80838 8.65929E-5 40419 0 6.25E-4
22-40161253-A-G p.Asp398Asp synonymous ENTHD1 2 80938 2.47103E-5 40469 0 1.27779E-4
22-40161259-C-T p.Met396Ile missense ENTHD1 2 80964 2.47023E-5 40482 0 9.55858E-6
22-40161282-G-C p.Pro389Ala missense ENTHD1 6 81062 7.40174E-5 40531 0 9.56267E-5
22-40161291-A-G p.Tyr386His missense ENTHD1 1 81064 1.23359E-5 40532 0 NA
22-40161293-G-A p.Ala385Val missense ENTHD1 3 81064 3.70078E-5 40532 0 6.37877E-5
22-40161294-C-G p.Ala385Pro missense ENTHD1 1 81062 1.23362E-5 40531 0 8.3073E-6
22-40161305-A-G p.Val381Ala missense ENTHD1 2 81048 2.46767E-5 40524 0 1.59357E-4
22-40161310-C-A p.Glu379Asp missense ENTHD1 1 81054 1.23375E-5 40527 0 1.65497E-5
22-40161320-C-T p.Arg376Gln missense ENTHD1 1 81058 1.23368E-5 40529 0 3.98099E-6
22-40161321-G-A p.Arg376* stop_gained ENTHD1 3 81050 3.70142E-5 40525 0 5.03525E-4
22-40161341-GGA-G p.Pro369fs frameshift ENTHD1 430 81044 0.00530576 40522 2 0.00691391
22-40161349-A-G p.Cys366Cys synonymous ENTHD1 1 81044 1.2339E-5 40522 0 NA
22-40161405-T-C p.Arg348Gly missense ENTHD1 2 80968 2.47011E-5 40484 0 3.98057E-6
22-40161411-C-T p.Asp346Asn missense ENTHD1 1 80956 1.23524E-5 40478 0 3.29957E-5
22-40161415-G-T p.Ser344Arg missense ENTHD1 1 80942 1.23545E-5 40471 0 7.96273E-6
22-40161424-C-A p.Glu341Asp missense ENTHD1 1 80936 1.23554E-5 40468 0 NA
22-40161439-C-G p.Trp336Cys missense ENTHD1 8 80904 9.88826E-5 40452 0 5.03525E-4
22-40161449-G-A p.Pro333Leu missense ENTHD1 1 80866 1.23661E-5 40433 0 3.98184E-6
22-40161461-A-T p.Leu329* stop_gained ENTHD1 1 80838 1.23704E-5 40419 0 4.1246E-5
22-40161463-T-G p.Thr328Thr synonymous ENTHD1 1 80830 1.23716E-5 40415 0 NA
22-40161468-T-C p.Lys327Glu missense ENTHD1 3 80822 3.71186E-5 40411 0 NA
22-40161490-C-T p.Lys319Lys synonymous ENTHD1 1 80728 1.23873E-5 40364 0 4.1323E-5
22-40161491-T-A p.Lys319Met missense ENTHD1 2 80730 2.47739E-5 40365 0 4.95901E-5
22-40161532-T-C p.Thr305Thr synonymous ENTHD1 2 80506 2.48429E-5 40253 0 9.11532E-5
22-40161543-C-T p.Gly302Ser missense ENTHD1 1 80458 1.24288E-5 40229 0 NA
22-40161572-C-G p.Arg292Thr missense ENTHD1 9 80326 1.12043E-4 40163 0 5.03525E-4
22-40161585-G-A p.Pro288Ser missense ENTHD1 1 80252 1.24607E-5 40126 0 NA
22-40161589-A-G p.Asn286Asn synonymous ENTHD1 2 80238 2.49258E-5 40119 0 2.50706E-5
22-40161598-G-T p.Leu283Leu synonymous ENTHD1 437 80186 0.00544983 40093 0 0.00617025
22-40161605-G-A p.Pro281Leu missense ENTHD1 1 80142 1.24779E-5 40071 0 3.19101E-5
22-40216990-C-A c.832+8G>T splice_region ENTHD1 2 80780 2.47586E-5 40390 0 1.65462E-5
22-40217005-C-T p.Ser275Ser synonymous ENTHD1 2 80770 2.47617E-5 40385 0 1.65328E-5
22-40217006-G-A p.Ser275Leu missense ENTHD1 2 80776 2.47598E-5 40388 0 5.03525E-4
22-40217013-T-C p.Asn273Asp missense ENTHD1 1 80764 1.23818E-5 40382 0 NA
22-40217018-ACTT-A p.Glu270del disruptive_inframe_deletion ENTHD1 8 80750 9.90712E-5 40375 0 1.27413E-4
22-40217022-C-T p.Glu270Lys missense ENTHD1 3 80748 3.71526E-5 40374 0 3.9827E-6
22-40217023-T-G p.Glu269Asp missense ENTHD1 6 80738 7.43144E-5 40369 0 9.55292E-5
22-40217042-G-A p.Thr263Ile missense ENTHD1 2 80702 2.47825E-5 40351 0 8.27513E-6
22-40217058-T-C p.Ile258Val missense ENTHD1 2 80710 2.47801E-5 40355 0 3.98254E-6
22-40217061-A-G p.Ser257Pro missense ENTHD1 1 80702 1.23913E-5 40351 0 NA
22-40217073-C-T p.Ala253Thr missense ENTHD1 2 80682 2.47887E-5 40341 0 NA
22-40217086-C-G p.Glu248Asp missense ENTHD1 1 80616 1.24045E-5 40308 0 NA
22-40217095-A-G p.Asp245Asp synonymous ENTHD1 1 80568 1.24119E-5 40284 0 NA
22-40217114-A-G p.Leu239Pro missense ENTHD1 89 80434 0.0011065 40217 2 0.00276999
22-40217116-G-A p.Asp238Asp splice_region+synonymous ENTHD1 2 80414 2.48713E-5 40207 0 NA
22-40231839-A-G c.711+6T>C splice_region ENTHD1 147 80490 0.00182631 40245 1 0.00433204
22-40231844-C-G c.711+1G>C splice_donor ENTHD1 2 80556 2.48275E-5 40278 0 3.18634E-5
22-40231860-A-G p.Gly232Gly synonymous ENTHD1 2 80658 2.47961E-5 40329 0 3.30049E-5
22-40231867-A-C p.Ile230Ser missense ENTHD1 1 80720 1.23885E-5 40360 0 NA
22-40231880-G-A p.Leu226Phe missense ENTHD1 1 80782 1.2379E-5 40391 0 4.03356E-6
22-40231883-T-C p.Thr225Ala missense ENTHD1 1 80790 1.23778E-5 40395 0 NA
22-40231890-G-A p.Ser222Ser synonymous ENTHD1 2 80786 2.47568E-5 40393 0 NA
22-40231916-G-T p.His214Asn missense ENTHD1 1 80808 1.2375E-5 40404 0 1.64815E-5
22-40231925-G-C p.Gln211Glu missense ENTHD1 1 80800 1.23762E-5 40400 0 6.59283E-5
22-40231941-C-T p.Leu205Leu synonymous ENTHD1 3 80708 3.7171E-5 40354 0 1.59286E-4
22-40257766-G-A c.592+4C>T splice_region ENTHD1 3 76780 3.90727E-5 38390 0 1.72292E-5
22-40257771-T-A p.Lys197Asn missense+splice_region ENTHD1 1 77528 1.28986E-5 38764 0 3.18674E-5
22-40257778-T-C p.His195Arg missense ENTHD1 2 78028 2.56318E-5 39014 0 2.88889E-5
22-40257783-C-G p.Arg193Ser missense ENTHD1 4 77832 5.13927E-5 38916 0 9.56206E-5
22-40257797-G-C p.Pro189Ala missense ENTHD1 2 78280 2.55493E-5 39140 0 NA
22-40257801-C-T p.Lys187Lys synonymous ENTHD1 1 79314 1.26081E-5 39657 0 3.18735E-5
22-40257804-A-G p.Tyr186Tyr synonymous ENTHD1 7 79462 8.80924E-5 39731 0 2.54842E-4
22-40257805-T-C p.Tyr186Cys missense ENTHD1 1 79496 1.25792E-5 39748 0 8.29297E-6
22-40257828-A-G p.Asp178Asp synonymous ENTHD1 2 80216 2.49327E-5 40108 0 3.9968E-6
22-40257829-T-A p.Asp178Val missense ENTHD1 1 80240 1.24626E-5 40120 0 6.37186E-5
22-40257831-C-T p.Pro177Pro synonymous ENTHD1 1 80206 1.24679E-5 40103 0 8.25232E-6
22-40257832-G-A p.Pro177Leu missense ENTHD1 7 80244 8.72339E-5 40122 0 3.50653E-4
22-40257834-T-G p.Thr176Thr synonymous ENTHD1 29 80368 3.6084E-4 40184 0 3.82434E-4
22-40257851-A-G p.Cys171Arg missense ENTHD1 5 80676 6.19763E-5 40338 0 4.78126E-5
22-40257852-C-T p.Ala170Ala synonymous ENTHD1 2 80652 2.47979E-5 40326 0 9.55657E-5
22-40257853-G-A p.Ala170Val missense ENTHD1 3 80652 3.71968E-5 40326 0 9.56023E-5
22-40257864-G-T p.Asn166Lys missense ENTHD1 1 80752 1.23836E-5 40376 0 NA
22-40257879-T-C p.Gln161Gln synonymous ENTHD1 2 80766 2.47629E-5 40383 0 3.98219E-6
22-40257883-C-G p.Arg160Thr missense ENTHD1 2 80758 2.47653E-5 40379 0 NA
22-40257887-T-C p.Lys159Glu missense ENTHD1 41 80714 5.07966E-4 40357 0 0.00151057
22-40257894-C-G p.Leu156Phe missense ENTHD1 1 80778 1.23796E-5 40389 0 NA
22-40257895-A-C p.Leu156Trp missense ENTHD1 1 80778 1.23796E-5 40389 0 8.24688E-6
22-40257913-C-T p.Arg150His missense ENTHD1 3 80674 3.71867E-5 40337 0 3.30115E-5
22-40257925-C-T p.Arg146Gln missense ENTHD1 4 80584 4.96376E-5 40292 0 3.19007E-5
22-40257926-G-A p.Arg146Trp missense ENTHD1 7 80532 8.6922E-5 40266 0 1.27453E-4
22-40257931-G-C p.Ala144Gly missense ENTHD1 1 80494 1.24233E-5 40247 0 7.97773E-6
22-40257931-G-A p.Ala144Val missense ENTHD1 1 80494 1.24233E-5 40247 0 8.25818E-6
22-40257935-C-T p.Val143Met missense ENTHD1 2 80428 2.4867E-5 40214 0 8.26105E-6
22-40257937-T-C p.Glu142Gly missense ENTHD1 1 80434 1.24326E-5 40217 0 NA
22-40257940-C-A p.Arg141Met missense ENTHD1 2 80414 2.48713E-5 40207 0 3.18431E-5
22-40257942-C-T p.Glu140Glu synonymous ENTHD1 1 80394 1.24387E-5 40197 0 1.99649E-5
22-40257944-C-G p.Glu140Gln missense ENTHD1 1 80330 1.24486E-5 40165 0 NA
22-40257956-A-G p.Leu136Leu synonymous ENTHD1 1 79748 1.25395E-5 39874 0 NA
22-40257957-T-C p.Pro135Pro synonymous ENTHD1 1 79706 1.25461E-5 39853 0 3.18451E-5
22-40257970-A-G p.Leu131Pro missense ENTHD1 13 78902 1.64761E-4 39451 0 1.01863E-4
22-40257980-T-C p.Ile128Val missense ENTHD1 2 77936 2.56621E-5 38968 0 1.6755E-5
22-40257984-T-C p.Gln126Gln synonymous ENTHD1 11 77668 1.41628E-4 38834 0 1.26931E-4
22-40258000-C-G p.Arg121Pro missense ENTHD1 2 76036 2.63033E-5 38018 0 4.41007E-6
22-40258005-A-G p.Tyr119Tyr synonymous ENTHD1 196 76230 0.00257117 38115 1 0.00519141
22-40283398-C-T c.349+6G>A splice_region ENTHD1 1 80788 1.23781E-5 40394 0 NA
22-40283413-T-C p.Lys114Glu missense ENTHD1 1 80872 1.23652E-5 40436 0 3.1841E-5
22-40283415-C-G p.Gly113Ala missense ENTHD1 1 80860 1.23671E-5 40430 0 4.078E-6
22-40283419-C-A p.Ala112Ser missense ENTHD1 1 80862 1.23667E-5 40431 0 3.65049E-5
22-40283427-A-G p.Ile109Thr missense ENTHD1 3556 80812 0.0440034 40406 68 0.054375
22-40283444-T-C p.Leu103Leu synonymous ENTHD1 3 80934 3.70672E-5 40467 0 4.01713E-6
22-40283482-G-C p.Gln91Glu missense ENTHD1 1 80964 1.23512E-5 40482 0 4.12011E-5
22-40283499-C-A p.Gly85Val missense ENTHD1 1 80948 1.23536E-5 40474 0 3.97785E-6
22-40283503-T-G p.Asn84His missense ENTHD1 2 80964 2.47023E-5 40482 0 NA
22-40283525-G-A p.Thr76Thr synonymous ENTHD1 1 80958 1.23521E-5 40479 0 NA
22-40283539-A-G p.Tyr72His missense ENTHD1 1 80962 1.23515E-5 40481 0 8.23737E-6
22-40283542-C-T p.Val71Met missense ENTHD1 1 80960 1.23518E-5 40480 0 7.95399E-6
22-40283543-G-A p.His70His synonymous ENTHD1 2 80960 2.47036E-5 40480 0 3.18593E-5
22-40283546-G-A p.Arg69Arg synonymous ENTHD1 1 80964 1.23512E-5 40482 0 NA
22-40283547-C-T p.Arg69His missense ENTHD1 11 80966 1.3586E-4 40483 0 0.00100705
22-40283547-C-A p.Arg69Leu missense ENTHD1 1 80966 1.23509E-5 40483 0 NA
22-40283548-G-A p.Arg69Cys missense ENTHD1 2 80960 2.47036E-5 40480 0 NA
22-40283561-A-G p.His64His synonymous ENTHD1 358 80960 0.00442194 40480 2 0.00997133
22-40283570-G-A p.Leu61Leu synonymous ENTHD1 3 80968 3.70517E-5 40484 0 NA
22-40283582-C-A p.Leu57Leu synonymous ENTHD1 2 80960 2.47036E-5 40480 0 3.97791E-6
22-40283585-C-A p.Met56Ile missense ENTHD1 1 80962 1.23515E-5 40481 0 8.23968E-6
22-40283588-A-T p.Asn55Lys missense ENTHD1 1 80966 1.23509E-5 40483 0 5.04032E-4
22-40283609-A-C p.Ile48Met missense ENTHD1 3 80926 3.70709E-5 40463 0 2.38682E-5
22-40283637-T-C p.Asp39Gly missense ENTHD1 8 80902 9.88851E-5 40451 0 6.37105E-5
22-40283644-T-G p.Met37Leu missense ENTHD1 1 80908 1.23597E-5 40454 0 3.18532E-5
22-40283657-G-A p.Pro32Pro synonymous ENTHD1 83 80906 0.00102588 40453 0 0.0020141
22-40283661-C-T p.Gly31Asp missense ENTHD1 2 80900 2.47219E-5 40450 0 3.18532E-5
22-40283671-C-T p.Asp28Asn missense ENTHD1 7 80914 8.65116E-5 40457 0 4.15055E-5
22-40283672-G-A p.Asn27Asn synonymous ENTHD1 18 80916 2.22453E-4 40458 0 6.25E-4
22-40283688-C-T p.Arg22Lys missense ENTHD1 2 80918 2.47164E-5 40459 0 2.0931E-5
22-40283691-A-T p.Val21Asp missense ENTHD1 5 80912 6.17955E-5 40456 0 6.3678E-5
22-40283696-T-A p.Ile19Ile synonymous ENTHD1 1 80908 1.23597E-5 40454 0 8.50015E-6
22-40283708-T-A p.Ser15Ser synonymous ENTHD1 1 80914 1.23588E-5 40457 0 NA
22-40283734-C-T p.Val7Met missense ENTHD1 2 80914 2.47176E-5 40457 0 2.6609E-5
22-40283747-C-G p.Ala2Ala synonymous ENTHD1 2 80878 2.47286E-5 40439 0 NA
22-40283747-C-T p.Ala2Ala synonymous ENTHD1 2 80878 2.47286E-5 40439 0 2.46689E-5
22-40283748-G-A p.Ala2Val missense ENTHD1 1 80872 1.23652E-5 40436 0 9.03032E-6
22-40283815-G-A c.-63C>T 5_prime_UTR_premature_start_codon_gain ENTHD1 1 78208 1.27864E-5 39104 0 6.36862E-5



Copyright � 2020 Institute for Genomic Medicine. All rights reserved.