Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-119299483-G-GACACCCTCTCCAGAGCCCAGCAATTGTGAGGGACTGATGGAGAAGTATGTGGCT c.-37_-37+1insACACCCTCTCCAGAGCCCAGCAATTGTGAGGGACTGATGGAGAAGTATGTGGCT splice_donor ADPRH 1 2944 3.39674E-4 1472 0 NA
3-119299483-G-GACACCCTCTCCAGAGCCCA c.-37_-37+1insACACCCTCTCCAGAGCCCA splice_donor ADPRH 1 2944 3.39674E-4 1472 0 NA
3-119299483-G-GACACCCTCTCCAGA c.-37_-37+1insACACCCTCTCCAGA splice_donor ADPRH 1 2944 3.39674E-4 1472 0 NA
3-119300917-C-T c.-100C>T 5_prime_UTR_premature_start_codon_gain ADPRH 4 75058 5.32921E-5 37529 0 3.18471E-5
3-119300928-C-A c.-89C>A 5_prime_UTR_premature_start_codon_gain ADPRH 16 74796 2.13915E-4 37398 0 2.55771E-4
3-119300928-C-G c.-89C>G 5_prime_UTR_premature_start_codon_gain ADPRH 1 74798 1.33693E-5 37399 0 NA
3-119300959-T-C c.-58T>C 5_prime_UTR_premature_start_codon_gain ADPRH 2 82136 2.43499E-5 41068 0 NA
3-119301032-G-A p.Ala6Thr missense ADPRH 1 83366 1.19953E-5 41683 0 1.71677E-5
3-119301061-T-C p.Asp15Asp synonymous ADPRH 1 83398 1.19907E-5 41699 0 NA
3-119301081-G-A p.Gly22Glu missense ADPRH 2 83414 2.39768E-5 41707 0 NA
3-119301096-TC-T p.Gln28fs frameshift ADPRH 1 83410 1.1989E-5 41705 0 NA
3-119301100-G-T p.Gln28His missense ADPRH 2 83410 2.39779E-5 41705 0 5.76616E-5
3-119301105-G-T p.Gly30Val missense ADPRH 1 83418 1.19878E-5 41709 0 NA
3-119301107-G-A p.Glu31Lys missense ADPRH 1 83422 1.19872E-5 41711 0 3.18451E-5
3-119301113-A-G p.Ile33Val missense ADPRH 12 83420 1.4385E-4 41710 0 7.41339E-5
3-119301116-C-T p.His34Tyr missense ADPRH 1 83420 1.19875E-5 41710 0 NA
3-119301119-C-T p.Arg35Trp missense ADPRH 2 83414 2.39768E-5 41707 0 1.59068E-5
3-119301120-G-A p.Arg35Gln missense ADPRH 4 83416 4.79524E-5 41708 0 6.25E-4
3-119301139-C-T p.Gly41Gly synonymous ADPRH 6210 83334 0.0745194 41667 274 0.123125
3-119301142-C-T p.Gly42Gly synonymous ADPRH 1 83390 1.19918E-5 41695 0 NA
3-119301144-T-C p.Leu43Ser missense ADPRH 14 83394 1.67878E-4 41697 0 0.00106257
3-119301158-G-A p.Val48Met missense ADPRH 14 83394 1.67878E-4 41697 1 7.59528E-4
3-119301181-C-T p.Asp55Asp synonymous ADPRH 28 83400 3.35731E-4 41700 1 0.00113329
3-119301182-G-A p.Asp56Asn missense ADPRH 2 83394 2.39825E-5 41697 0 1.19296E-5
3-119301225-C-G p.Ala70Gly missense ADPRH 1 83388 1.19921E-5 41694 0 9.94139E-5
3-119301246-C-T p.Thr77Ile missense ADPRH 1 83374 1.19941E-5 41687 0 NA
3-119301248-C-T p.Gln78* stop_gained ADPRH 2 83380 2.39866E-5 41690 0 8.24008E-6
3-119301251-C-G p.Leu79Val missense ADPRH 1 83374 1.19941E-5 41687 0 NA
3-119301255-A-G p.Tyr80Cys missense ADPRH 3 83366 3.59859E-5 41683 0 5.76986E-5
3-119301258-A-G p.Tyr81Cys missense ADPRH 3 83354 3.59911E-5 41677 0 6.37267E-5
3-119301271-G-A p.Lys85Lys synonymous ADPRH 1 83336 1.19996E-5 41668 0 3.98092E-6
3-119301272-C-A p.His86Asn missense ADPRH 3 83334 3.59997E-5 41667 0 3.98064E-6
3-119301296-A-G p.Met94Val missense ADPRH 1 83252 1.20117E-5 41626 0 NA
3-119301301-TG-T p.Arg97fs frameshift ADPRH 23 83238 2.76316E-4 41619 0 1.55648E-4
3-119301305-C-T p.Arg97Trp missense ADPRH 1 83156 1.20256E-5 41578 0 NA
3-119301311-C-T p.Pro99Ser missense ADPRH 1 83130 1.20294E-5 41565 0 NA
3-119301317-G-GGTGCCTCGGTGCACAACGCCATGCAGCTGAAGCCGGGCA c.298+3_298+4insGTGCCTCGGTGCACAACGCCATGCAGCTGAAGCCGGGCA splice_region ADPRH 2 83098 2.4068E-5 41549 1 NA
3-119305124-T-C c.299-8T>C splice_region ADPRH 1 82866 1.20677E-5 41433 0 1.99949E-5
3-119305126-C-T c.299-6C>T splice_region ADPRH 23 82918 2.77382E-4 41459 0 5.41263E-4
3-119305141-C-T p.Ser103Leu missense ADPRH 1 83126 1.20299E-5 41563 0 3.1841E-5
3-119305142-G-A p.Ser103Ser synonymous ADPRH 45 83144 5.4123E-4 41572 0 0.0015121
3-119305151-C-T p.Asn106Asn synonymous ADPRH 2 83180 2.40442E-5 41590 0 1.49711E-4
3-119305156-T-A p.Met108Lys missense ADPRH 1 83184 1.20215E-5 41592 0 NA
3-119305159-A-C p.Gln109Pro missense ADPRH 2 83186 2.40425E-5 41593 0 3.98016E-6
3-119305160-G-C p.Gln109His missense ADPRH 1 83186 1.20213E-5 41593 0 3.1835E-5
3-119305165-A-G p.Lys111Arg missense ADPRH 1 83202 1.20189E-5 41601 0 1.65959E-5
3-119305168-C-T p.Pro112Leu missense ADPRH 4 83190 4.80827E-5 41595 0 5.03525E-4
3-119305169-G-A p.Pro112Pro synonymous ADPRH 12605 82978 0.151908 41489 1080 0.187281
3-119305169-G-T p.Pro112Pro synonymous ADPRH 1 83192 1.20204E-5 41596 0 3.9801E-6
3-119305172-C-T p.Gly113Gly synonymous ADPRH 2 83200 2.40385E-5 41600 0 NA
3-119305179-A-T p.Asn116Tyr missense ADPRH 2 83222 2.40321E-5 41611 0 1.6553E-5
3-119305180-A-G p.Asn116Ser missense ADPRH 5 83224 6.00788E-5 41612 0 7.44823E-5
3-119305205-C-A p.Ser124Arg missense ADPRH 2 83238 2.40275E-5 41619 0 3.97871E-6
3-119305211-G-A p.Glu126Glu synonymous ADPRH 3 83272 3.60265E-5 41636 0 5.03525E-4
3-119305214-C-T p.Gly127Gly synonymous ADPRH 3 83252 3.60352E-5 41626 0 6.36983E-5
3-119305224-G-C p.Ala131Pro missense ADPRH 1 83266 1.20097E-5 41633 0 NA
3-119305230-A-G p.Met133Val missense ADPRH 14 83280 1.68108E-4 41640 2 5.03525E-4
3-119305233-C-T p.Arg134Trp missense ADPRH 6 83270 7.20548E-5 41635 0 4.12562E-5
3-119305234-G-A p.Arg134Gln missense ADPRH 3 83276 3.60248E-5 41638 0 3.18492E-5
3-119305247-C-T p.Ile138Ile synonymous ADPRH 25 83306 3.00098E-4 41653 0 6.25E-4
3-119305248-G-A p.Gly139Ser missense ADPRH 4 83308 4.80146E-5 41654 0 1.19303E-5
3-119305248-G-C p.Gly139Arg missense ADPRH 1 83308 1.20036E-5 41654 0 8.24484E-5
3-119305272-C-T p.Gln147* stop_gained ADPRH 1 83342 1.19988E-5 41671 0 5.03525E-4
3-119305277-G-A p.Leu148Leu synonymous ADPRH 1 83344 1.19985E-5 41672 0 NA
3-119305292-A-C p.Gln153His missense ADPRH 2 83348 2.39958E-5 41674 0 NA
3-119305301-C-T p.Ile156Ile synonymous ADPRH 3 83354 3.59911E-5 41677 0 8.2394E-6
3-119305302-G-A p.Glu157Lys missense ADPRH 1 83348 1.19979E-5 41674 0 3.977E-6
3-119305304-G-C p.Glu157Asp missense ADPRH 1 83346 1.19982E-5 41673 0 1.19306E-5
3-119305309-G-A p.Gly159Asp missense ADPRH 1 83340 1.1999E-5 41670 0 9.55292E-5
3-119305312-G-A p.Arg160Gln missense ADPRH 4 83340 4.79962E-5 41670 0 1.51146E-4
3-119305318-C-T p.Thr162Ile missense ADPRH 1 83328 1.20008E-5 41664 0 3.97791E-6
3-119305322-C-T p.His163His synonymous ADPRH 1 83324 1.20013E-5 41662 0 NA
3-119305323-C-G p.His164Asp missense ADPRH 5 83326 6.00053E-5 41663 0 4.94356E-5
3-119305324-A-G p.His164Arg missense ADPRH 1 83316 1.20025E-5 41658 0 NA
3-119305332-A-G p.Thr167Ala missense ADPRH 3 83328 3.60023E-5 41664 0 6.37064E-5
3-119305340-C-T p.Tyr169Tyr synonymous ADPRH 1 83318 1.20022E-5 41659 0 NA
3-119305341-C-T p.Leu170Leu synonymous ADPRH 1 83320 1.20019E-5 41660 0 1.23573E-4
3-119305352-T-G p.Leu173Leu synonymous ADPRH 3 83280 3.60231E-5 41640 0 8.23832E-6
3-119305353-G-A p.Ala174Thr missense ADPRH 2 83280 2.40154E-5 41640 0 NA
3-119305355-G-A p.Ala174Ala synonymous ADPRH 1 83272 1.20088E-5 41636 0 4.94324E-5
3-119305360-C-T p.Ala176Val missense ADPRH 1 83268 1.20094E-5 41634 0 NA
3-119305369-C-T p.Thr179Ile missense ADPRH 1 83278 1.2008E-5 41639 0 3.1841E-5
3-119305370-A-G p.Thr179Thr synonymous ADPRH 1 83280 1.20077E-5 41640 0 NA
3-119305375-A-C p.Tyr181Ser missense ADPRH 4 83278 4.80319E-5 41639 1 8.23832E-6
3-119305377-G-A p.Ala182Thr missense ADPRH 1 83284 1.20071E-5 41642 0 3.1841E-5
3-119305379-T-A p.Ala182Ala synonymous ADPRH 28231 82702 0.341358 41351 4962 0.520644
3-119305396-C-T p.Pro188Leu missense ADPRH 1 83258 1.20109E-5 41629 0 NA
3-119305405-G-C p.Trp191Ser missense ADPRH 9 83240 1.08121E-4 41620 0 6.36902E-5
3-119305421-G-A p.Met196Ile missense ADPRH 1 83242 1.20132E-5 41621 0 3.29707E-5
3-119305425-C-A p.Leu198Met missense ADPRH 1 83238 1.20137E-5 41619 0 NA
3-119305447-A-G p.Tyr205Cys missense ADPRH 1 83204 1.20187E-5 41602 0 NA
3-119305461-G-A p.Gly210Ser missense ADPRH 2 83192 2.40408E-5 41596 0 8.03439E-6
3-119305461-G-T p.Gly210Cys missense ADPRH 1 83192 1.20204E-5 41596 0 NA
3-119305494-T-TCCTACTTCCAAACCAAATGGGAAAATTACCTAAAACTTA c.659+2_659+3insCCTACTTCCAAACCAAATGGGAAAATTACCTAAAACTTA splice_region ADPRH 7 83102 8.42338E-5 41551 3 NA
3-119305498-T-C c.659+6T>C splice_region ADPRH 13 83060 1.56513E-4 41530 0 2.22916E-4
3-119306348-C-G p.Leu233Val missense ADPRH 2 83150 2.40529E-5 41575 0 NA
3-119306349-T-A p.Leu233His missense ADPRH 1 83178 1.20224E-5 41589 0 NA
3-119306349-T-G p.Leu233Arg missense ADPRH 1 83178 1.20224E-5 41589 0 NA
3-119306352-G-C p.Arg234Thr missense ADPRH 1 83166 1.20241E-5 41583 0 4.28324E-5
3-119306357-A-G p.Ile236Val missense ADPRH 1 83224 1.20158E-5 41612 0 1.04096E-4
3-119306361-T-C p.Leu237Ser missense ADPRH 1 83246 1.20126E-5 41623 0 NA
3-119306366-G-A p.Gly239Arg missense ADPRH 1 83244 1.20129E-5 41622 0 1.24209E-5
3-119306368-A-C p.Gly239Gly synonymous ADPRH 2 83246 2.40252E-5 41623 0 0.00125
3-119306377-C-A p.Ala242Ala synonymous ADPRH 1 83336 1.19996E-5 41668 0 1.66442E-5
3-119306378-C-A p.Pro243Thr missense ADPRH 1 83332 1.20002E-5 41666 0 NA
3-119306397-T-C p.Phe249Ser missense ADPRH 1 83370 1.19947E-5 41685 0 1.65076E-5
3-119306398-C-T p.Phe249Phe synonymous ADPRH 6 83366 7.19718E-5 41683 0 5.03525E-4
3-119306399-G-A p.Gly250Ser missense ADPRH 2 83366 2.39906E-5 41683 0 4.95115E-5
3-119306406-A-G p.Lys252Arg missense ADPRH 1 83384 1.19927E-5 41692 0 NA
3-119306414-G-C p.Asp255His missense ADPRH 1 83386 1.19924E-5 41693 0 7.96705E-6
3-119306441-T-C p.Ser264Pro missense ADPRH 5 83394 5.99564E-5 41697 0 2.47292E-5
3-119306449-G-A p.Trp266* stop_gained ADPRH 182 83392 0.00218246 41696 0 0.00379005
3-119306455-C-T p.Gly268Gly synonymous ADPRH 1 83382 1.1993E-5 41691 0 NA
3-119306467-C-T p.His272His synonymous ADPRH 4 83370 4.79789E-5 41685 0 5.03525E-4
3-119306468-G-A p.Asp273Asn missense ADPRH 16 83366 1.91925E-4 41683 0 2.22559E-4
3-119306470-T-A p.Asp273Glu missense ADPRH 1 83372 1.19944E-5 41686 0 NA
3-119306471-G-GC p.Met276fs frameshift ADPRH 1 83368 1.1995E-5 41684 0 NA
3-119306473-C-A p.Ala274Ala synonymous ADPRH 1 83370 1.19947E-5 41685 0 3.97782E-6
3-119306473-C-CCCCATGATTGCCTACGATGCT p.Pro275_Ala281dup conservative_inframe_insertion ADPRH 1 83370 1.19947E-5 41685 0 3.97782E-6
3-119306482-T-G p.Ile277Met missense ADPRH 26 83372 3.11855E-4 41686 1 1.07463E-4
3-119306484-C-T p.Ala278Val missense ADPRH 4 83364 4.79823E-5 41682 0 1.64848E-5
3-119306486-T-TA p.Tyr279fs frameshift ADPRH 1 83368 1.1995E-5 41684 0 NA
3-119306488-C-T p.Tyr279Tyr synonymous ADPRH 4 83366 4.79812E-5 41683 0 1.27356E-4
3-119306489-G-A p.Asp280Asn missense ADPRH 3 83364 3.59868E-5 41682 0 1.64832E-5
3-119306495-G-A p.Val282Ile missense ADPRH 1 83366 1.19953E-5 41683 0 2.47223E-5
3-119306498-C-A p.Leu283Ile missense ADPRH 2 83372 2.39889E-5 41686 0 3.1839E-5
3-119306505-C-G p.Ala285Gly missense ADPRH 1 83372 1.19944E-5 41686 0 1.64826E-5
3-119306508-G-A p.Gly286Glu missense ADPRH 1 83376 1.19939E-5 41688 0 NA
3-119306512-C-T p.Asp287Asp synonymous ADPRH 1 83366 1.19953E-5 41683 0 NA
3-119306519-AAGG-A p.Glu291del conservative_inframe_deletion ADPRH 1 83362 1.19959E-5 41681 0 3.18532E-5
3-119306534-C-T p.Arg295* stop_gained ADPRH 3 83358 3.59893E-5 41679 0 7.64575E-4
3-119306535-G-A p.Arg295Gln missense ADPRH 11 83360 1.31958E-4 41680 0 6.25E-4
3-119306537-G-A p.Ala296Thr missense ADPRH 1 83364 1.19956E-5 41682 0 3.9775E-6
3-119306547-A-G p.His299Arg missense ADPRH 2 83360 2.39923E-5 41680 0 9.55901E-5
3-119306550-G-A p.Gly300Asp missense ADPRH 1 83360 1.19962E-5 41680 0 NA
3-119306551-T-G p.Gly300Gly synonymous ADPRH 1 83358 1.19964E-5 41679 0 NA
3-119306554-A-T p.Gly301Gly synonymous ADPRH 3 83358 3.59893E-5 41679 0 1.19307E-5
3-119306562-A-AT p.Ser305fs frameshift ADPRH 1 83364 1.19956E-5 41682 0 NA
3-119306563-T-C p.Asp304Asp synonymous ADPRH 2 83370 2.39894E-5 41685 0 1.98837E-5
3-119306565-C-T p.Ser305Phe missense ADPRH 1 83358 1.19964E-5 41679 0 NA
3-119306573-G-A p.Ala308Thr missense ADPRH 2 83362 2.39917E-5 41681 0 8.23805E-6
3-119306575-C-T p.Ala308Ala synonymous ADPRH 1 83362 1.19959E-5 41681 0 3.18471E-5
3-119306576-A-G p.Ile309Val missense ADPRH 1 83362 1.19959E-5 41681 0 NA
3-119306579-G-A p.Ala310Thr missense ADPRH 5 83360 5.99808E-5 41680 0 8.23859E-5
3-119306582-G-A p.Gly311Ser missense ADPRH 1 83354 1.1997E-5 41677 0 1.64772E-5
3-119306603-T-C p.Tyr318His missense ADPRH 1 83348 1.19979E-5 41674 0 1.64853E-5
3-119306626-C-G p.Pro325Pro synonymous ADPRH 5 83336 5.99981E-5 41668 0 1.19333E-5
3-119306626-C-T p.Pro325Pro synonymous ADPRH 1 83336 1.19996E-5 41668 0 8.24919E-6
3-119306641-A-G p.Lys330Lys synonymous ADPRH 1 83344 1.19985E-5 41672 0 3.97902E-6
3-119306655-A-G p.Asn335Ser missense ADPRH 2 83334 2.39998E-5 41667 0 0.001875
3-119306657-C-T p.Arg336Trp missense ADPRH 3 83326 3.60032E-5 41663 0 1.65407E-5
3-119306658-G-A p.Arg336Gln missense ADPRH 1 83320 1.20019E-5 41660 0 3.58383E-5
3-119306659-GC-TT p.ArgLeu336ArgLeu synonymous ADPRH 1 83318 1.20022E-5 41659 0 NA
3-119306672-G-A p.Ala341Thr missense ADPRH 1 83328 1.20008E-5 41664 0 1.1957E-5
3-119306688-C-T p.Ser346Phe missense ADPRH 1 83300 1.20048E-5 41650 0 NA
3-119306692-C-T p.Leu347Leu synonymous ADPRH 1 83304 1.20042E-5 41652 0 8.04499E-6
3-119306693-G-T p.Gly348Trp missense ADPRH 1 83302 1.20045E-5 41651 0 NA
3-119306693-G-A p.Gly348Arg missense ADPRH 5 83302 6.00226E-5 41651 0 1.61288E-5
3-119306694-G-A p.Gly348Glu missense ADPRH 1 83302 1.20045E-5 41651 0 NA
3-119306702-G-T p.Glu351* stop_gained ADPRH 6 83292 7.20357E-5 41646 0 2.45274E-5