Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-110527461-C-G c.-214C>G 5_prime_UTR_premature_start_codon_gain AHCYL1 1 25754 3.88289E-5 12877 0 NA
1-110527464-T-C c.-211T>C 5_prime_UTR_premature_start_codon_gain AHCYL1 1 26174 3.82059E-5 13087 0 NA
1-110527538-C-T c.-137C>T 5_prime_UTR_premature_start_codon_gain AHCYL1 3 48968 6.12645E-5 24484 0 NA
1-110527660-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain AHCYL1 1 73764 1.35567E-5 36882 0 5.98501E-6
1-110527661-G-T c.-14G>T 5_prime_UTR_premature_start_codon_gain AHCYL1 1 73774 1.35549E-5 36887 0 9.92743E-4
1-110527669-C-T c.-6C>T 5_prime_UTR_premature_start_codon_gain AHCYL1 3 75094 3.99499E-5 37547 0 NA
1-110527700-T-C p.Leu9Pro missense AHCYL1 21 77412 2.71276E-4 38706 0 3.82775E-4
1-110527738-A-G p.Ile22Val missense AHCYL1 1 78516 1.27363E-5 39258 0 6.25E-4
1-110527746-C-T p.Asp24Asp synonymous AHCYL1 1 78500 1.27389E-5 39250 0 NA
1-110527749-C-T p.Ala25Ala synonymous AHCYL1 1 78468 1.2744E-5 39234 0 NA
1-110527750-GAGA-G p.Lys27del conservative_inframe_deletion AHCYL1 1 78510 1.27372E-5 39255 0 NA
1-110527758-C-T p.Tyr28Tyr synonymous AHCYL1 3 78490 3.82214E-5 39245 0 1.62857E-4
1-110527778-C-A p.Thr35Asn missense AHCYL1 1 78020 1.28172E-5 39010 0 1.00285E-5
1-110527785-G-A p.Ala37Ala synonymous AHCYL1 2 77790 2.57102E-5 38895 0 3.18796E-5
1-110527800-G-T c.120+6G>T splice_region AHCYL1 14 77308 1.81094E-4 38654 0 1.27502E-4
1-110527801-G-A c.120+7G>A splice_region AHCYL1 1 77310 1.29349E-5 38655 0 NA
1-110546804-C-T c.-291C>T 5_prime_UTR_premature_start_codon_gain AHCYL1 4 24272 1.64799E-4 12136 0 NA
1-110546944-C-T c.-151C>T 5_prime_UTR_premature_start_codon_gain AHCYL1 1 24268 4.12065E-5 12134 0 3.18674E-5
1-110547034-C-G c.-61C>G 5_prime_UTR_premature_start_codon_gain AHCYL1 1 24260 4.12201E-5 12130 0 NA
1-110547064-T-C c.-22+2T>C splice_donor AHCYL1 3 24264 1.2364E-4 12132 0 2.86716E-4
1-110551675-A-C p.Asp47Ala missense AHCYL1 1 82932 1.20581E-5 41466 0 9.06693E-5
1-110551676-C-T p.Asp47Asp synonymous AHCYL1 2 82946 2.41121E-5 41473 0 NA
1-110551677-A-G p.Met1? start_lost AHCYL1 1 82944 1.20563E-5 41472 0 NA
1-110551684-A-G p.Glu3Gly missense AHCYL1 1 82960 1.2054E-5 41480 0 8.24035E-6
1-110551688-C-T p.Phe4Phe synonymous AHCYL1 2 83000 2.40964E-5 41500 0 NA
1-110551729-G-A p.Arg18His missense AHCYL1 1 82966 1.20531E-5 41483 0 3.97902E-6
1-110551733-G-A p.Ser19Ser synonymous AHCYL1 7 82956 8.43821E-5 41478 0 7.16167E-5
1-110551745-C-T p.Ser23Ser synonymous AHCYL1 4 82976 4.82067E-5 41488 0 1.59236E-4
1-110551772-G-A c.91+5G>A splice_region AHCYL1 1 82816 1.2075E-5 41408 0 6.25E-4
1-110551773-T-C c.91+6T>C splice_region AHCYL1 14 82818 1.69045E-4 41409 1 3.50318E-4
1-110553858-T-C p.Ser38Ser synonymous AHCYL1 8 83098 9.62719E-5 41549 0 9.55414E-5
1-110553861-T-C p.Asp39Asp synonymous AHCYL1 1 83124 1.20302E-5 41562 0 3.29723E-5
1-110553929-A-G p.Asn62Ser missense AHCYL1 1 83166 1.20241E-5 41583 0 3.97902E-6
1-110553933-C-G p.Ile63Met missense AHCYL1 1 83190 1.20207E-5 41595 0 3.97956E-6
1-110553941-C-A p.Ala66Glu missense AHCYL1 1 83172 1.20233E-5 41586 0 3.18735E-5
1-110553942-A-G p.Ala66Ala synonymous AHCYL1 2 83170 2.40471E-5 41585 0 NA
1-110553953-G-A p.Arg70His missense AHCYL1 2 83174 2.4046E-5 41587 0 3.18613E-5
1-110553955-C-T p.Arg71Trp missense AHCYL1 1 83164 1.20244E-5 41582 0 NA
1-110553956-G-C p.Arg71Pro missense AHCYL1 1 83182 1.20218E-5 41591 0 NA
1-110553964-G-C p.Glu74Gln missense AHCYL1 1 83172 1.20233E-5 41586 0 NA
1-110553983-A-G c.235+4A>G splice_region AHCYL1 1 83004 1.20476E-5 41502 0 1.59289E-5
1-110555021-G-T p.Gln91His missense AHCYL1 1 82014 1.2193E-5 41007 0 NA
1-110555038-C-T p.Ala97Val missense AHCYL1 2 81872 2.44284E-5 40936 0 NA
1-110555079-A-G p.Thr111Ala missense AHCYL1 1 80902 1.23606E-5 40451 0 8.34613E-6
1-110555080-C-T p.Thr111Ile missense AHCYL1 3 80848 3.71067E-5 40424 0 4.67401E-5
1-110555081-A-G p.Thr111Thr synonymous AHCYL1 29 80764 3.59071E-4 40382 0 8.28289E-4
1-110555091-T-C c.336+7T>C splice_region AHCYL1 2 80192 2.49401E-5 40096 0 NA
1-110555512-T-C c.337-7T>C splice_region AHCYL1 3 82106 3.65381E-5 41053 0 8.54526E-6
1-110555521-G-A p.Val113Val splice_region+synonymous AHCYL1 1 82236 1.21601E-5 41118 0 4.03102E-6
1-110555536-CTG-C p.Ala120fs frameshift AHCYL1 1 82474 1.2125E-5 41237 0 4.00529E-6
1-110555578-C-T p.Ile132Ile synonymous AHCYL1 2 82728 2.41756E-5 41364 0 8.26515E-6
1-110555596-A-G p.Glu138Glu synonymous AHCYL1 1 82704 1.20913E-5 41352 0 NA
1-110555602-T-A p.Ala140Ala synonymous AHCYL1 2 82672 2.4192E-5 41336 0 NA
1-110555620-T-G p.Ala146Ala splice_region+synonymous AHCYL1 2 82558 2.42254E-5 41279 0 NA
1-110555629-C-T c.439+8C>T splice_region AHCYL1 1 82380 1.21389E-5 41190 0 2.55308E-5
1-110557392-A-C p.Ala149Ala synonymous AHCYL1 3 83240 3.60404E-5 41620 0 NA
1-110557398-C-T p.Phe151Phe synonymous AHCYL1 3 83258 3.60326E-5 41629 0 0.00125
1-110557408-G-A p.Gly155Ser missense AHCYL1 2 83290 2.40125E-5 41645 0 3.18167E-5
1-110557410-C-T p.Gly155Gly synonymous AHCYL1 1 83280 1.20077E-5 41640 0 1.19318E-5
1-110557413-G-A p.Glu156Glu synonymous AHCYL1 11 83294 1.32062E-4 41647 0 1.59185E-4
1-110557445-G-A p.Arg167His missense AHCYL1 1 83314 1.20028E-5 41657 0 3.1839E-5
1-110557459-G-T p.Asp172Tyr missense AHCYL1 1 83278 1.2008E-5 41639 0 NA
1-110557464-G-C p.Gly173Gly synonymous AHCYL1 2 83256 2.40223E-5 41628 0 8.24158E-6
1-110557477-A-G p.Met178Val missense+splice_region AHCYL1 4 83204 4.80746E-5 41602 0 1.194E-5
1-110557480-G-GCTGTATCAGCTCTCCAAAGCTGGGAAGC c.534+1_534+2insCTGTATCAGCTCTCCAAAGCTGGGAAGC splice_donor AHCYL1 1 83178 1.20224E-5 41589 0 NA
1-110557485-A-G c.534+6A>G splice_region AHCYL1 1 83148 1.20267E-5 41574 0 7.96248E-5
1-110558043-A-G c.535-4A>G splice_region AHCYL1 7 82512 8.48361E-5 41256 0 4.12167E-4
1-110558049-C-A p.Ile179Ile splice_region+synonymous AHCYL1 1 82660 1.20978E-5 41330 0 NA
1-110558115-C-T p.Ile201Ile synonymous AHCYL1 1 83098 1.2034E-5 41549 0 8.23723E-6
1-110558117-G-A p.Arg202Gln missense AHCYL1 2 83100 2.40674E-5 41550 0 3.1837E-5
1-110558133-G-A p.Glu207Glu synonymous AHCYL1 1 83100 1.20337E-5 41550 0 NA
1-110558969-G-A p.Leu215Leu synonymous AHCYL1 107 82270 0.0013006 41135 1 0.00252016
1-110559005-G-A p.Pro227Pro synonymous AHCYL1 20 82838 2.41435E-4 41419 0 5.09911E-4
1-110559014-C-T p.Asn230Asn synonymous AHCYL1 1 82962 1.20537E-5 41481 0 6.37064E-5
1-110559031-C-G p.Thr236Ser missense AHCYL1 1 83000 1.20482E-5 41500 0 NA
1-110559039-A-C p.Lys239Gln missense AHCYL1 1 83016 1.20459E-5 41508 0 NA
1-110559079-A-T p.Asp252Val missense AHCYL1 2 82968 2.41057E-5 41484 0 NA
1-110559080-T-C p.Asp252Asp splice_region+synonymous AHCYL1 1 82964 1.20534E-5 41482 0 NA
1-110559086-G-A c.758+4G>A splice_region AHCYL1 6 82928 7.23519E-5 41464 0 3.18552E-5
1-110559301-C-T p.Thr257Thr synonymous AHCYL1 1 83434 1.19855E-5 41717 0 NA
1-110559324-A-G p.Lys265Arg missense AHCYL1 2 83436 2.39705E-5 41718 0 1.64739E-5
1-110559337-G-A p.Val269Val synonymous AHCYL1 1 83422 1.19872E-5 41711 0 3.1841E-5
1-110560113-G-A c.823-4G>A splice_region AHCYL1 1 82900 1.20627E-5 41450 0 NA
1-110560145-A-G p.Lys284Arg missense AHCYL1 1 83088 1.20354E-5 41544 0 8.23954E-6
1-110560158-A-G p.Ala288Ala synonymous AHCYL1 1 83108 1.20325E-5 41554 0 6.36821E-5
1-110560173-C-T p.Thr293Thr synonymous AHCYL1 3 83108 3.60976E-5 41554 0 1.91046E-4
1-110560179-C-T p.Ile295Ile synonymous AHCYL1 1 83120 1.20308E-5 41560 0 1.64791E-5
1-110560205-G-GCATGGATGGGTTCAGGGTGGTAAAGCTAAATGAAGTCATCCGGCAAGTCGAT c.911_911+1insCATGGATGGGTTCAGGGTGGTAAAGCTAAATGAAGTCATCCGGCAAGTCGAT splice_donor AHCYL1 2 83012 2.40929E-5 41506 1 NA
1-110560210-G-A c.911+5G>A splice_region AHCYL1 1 82980 1.20511E-5 41490 0 NA
1-110560213-C-T c.911+8C>T splice_region AHCYL1 5 82948 6.02787E-5 41474 0 1.81395E-4
1-110560560-T-A c.912-8T>A splice_region AHCYL1 1 83352 1.19973E-5 41676 0 8.24008E-6
1-110560599-G-C p.Glu315Gln missense AHCYL1 1 83392 1.19916E-5 41696 0 3.97687E-6
1-110560608-C-T p.Arg318Trp missense AHCYL1 3 83384 3.59781E-5 41692 0 8.23845E-6
1-110560613-A-T p.Gln319His missense AHCYL1 1 83376 1.19939E-5 41688 0 NA
1-110560616-C-T p.Val320Val synonymous AHCYL1 1 83376 1.19939E-5 41688 0 2.47162E-5
1-110560623-G-A p.Val323Ile missense AHCYL1 4 83372 4.79777E-5 41686 0 8.35163E-5
1-110560987-T-G c.983-8T>G splice_region AHCYL1 2 82850 2.414E-5 41425 0 NA
1-110561005-T-C p.Asn331Asn synonymous AHCYL1 1 83106 1.20328E-5 41553 0 3.9794E-6
1-110561008-A-G p.Val332Val synonymous AHCYL1 1 83126 1.20299E-5 41563 0 3.97928E-6
1-110561013-C-T p.Thr334Ile missense AHCYL1 16 83164 1.92391E-4 41582 0 0.00125438
1-110561024-T-C p.Leu338Leu synonymous AHCYL1 27 83228 3.2441E-4 41614 0 0.00100705
1-110561051-G-A p.Val347Ile missense AHCYL1 1 83322 1.20016E-5 41661 0 1.98867E-5
1-110561056-C-T p.Cys348Cys synonymous AHCYL1 1 83332 1.20002E-5 41666 0 3.1817E-5
1-110561068-C-T p.His352His synonymous AHCYL1 1 83328 1.20008E-5 41664 0 4.12807E-5
1-110561077-A-G p.Thr355Thr synonymous AHCYL1 1 83332 1.20002E-5 41666 0 NA
1-110561083-C-T p.Ile357Ile synonymous AHCYL1 2 83328 2.40015E-5 41664 0 1.65175E-5
1-110561088-TGGTAAGGCTTCTCTCATTTGTTGCTAGGCATTTCTCTACTACCTTTCATTAATAACCATAGTCAACTGTGCTTTCTTCCTTTCA-T p.Thr360fs frameshift AHCYL1 14 83332 1.68003E-4 41666 7 NA
1-110561095-G-C c.1077+6G>C splice_region AHCYL1 2 83304 2.40085E-5 41652 0 NA
1-110561095-G-A c.1077+6G>A splice_region AHCYL1 2 83304 2.40085E-5 41652 0 8.26364E-6
1-110561167-C-G c.1078-7C>G splice_region AHCYL1 1 83198 1.20195E-5 41599 0 NA
1-110561184-G-A p.Arg363His missense AHCYL1 1 83122 1.20305E-5 41561 0 3.18695E-5
1-110561188-T-G p.Thr364Thr synonymous AHCYL1 7 83106 8.42298E-5 41553 0 0.0020141
1-110561190-C-T p.Pro365Leu missense AHCYL1 2 83112 2.40639E-5 41556 0 8.32487E-6
1-110561199-C-T p.Thr368Met missense AHCYL1 3 83054 3.61211E-5 41527 0 1.6682E-5
1-110561208-G-A p.Arg371Gln missense AHCYL1 1 82958 1.20543E-5 41479 0 NA
1-110561231-G-C p.Val379Leu missense AHCYL1 1 82648 1.20995E-5 41324 0 NA
1-110561259-T-A p.Val388Asp missense AHCYL1 1 81680 1.22429E-5 40840 0 NA
1-110561681-A-G p.Leu395Leu synonymous AHCYL1 3 82988 3.61498E-5 41494 0 NA
1-110561702-A-T p.Thr402Thr synonymous AHCYL1 1 83050 1.20409E-5 41525 0 3.9769E-6
1-110562166-T-G c.1246-4T>G splice_region AHCYL1 11 83248 1.32135E-4 41624 0 5.46954E-5
1-110562188-C-T p.Leu422Phe missense AHCYL1 2 83294 2.40113E-5 41647 0 NA
1-110562200-C-G p.Pro426Ala missense AHCYL1 1 83294 1.20057E-5 41647 0 3.99409E-6
1-110562202-C-T p.Pro426Pro synonymous AHCYL1 2 83290 2.40125E-5 41645 0 3.18471E-5
1-110562203-G-A p.Glu427Lys missense AHCYL1 2 83298 2.40102E-5 41649 0 8.26788E-6
1-110562254-TGAAA-T c.1324+7_1324+10delGAAA splice_region AHCYL1 1 83156 1.20256E-5 41578 0 NA
1-110563348-C-G c.1325-5C>G splice_region AHCYL1 1 83256 1.20111E-5 41628 0 NA
1-110563385-T-G p.Phe453Val missense AHCYL1 1 83362 1.19959E-5 41681 0 NA
1-110563414-T-C p.Asp462Asp synonymous AHCYL1 1 83402 1.19901E-5 41701 0 8.23968E-6
1-110564292-A-T c.1446-4A>T splice_region AHCYL1 363 82672 0.00439085 41336 6 0.0100962
1-110564996-CAAAA-C c.*706_*709delAAAA splice_region AHCYL1 10 20486 4.88138E-4 10243 0 NA
1-110564996-CAAAAA-C c.*705_*709delAAAAA splice_region AHCYL1 584 20458 0.0285463 10229 45 0.0726325
1-110564996-CA-C c.*709delA splice_region AHCYL1 64 19652 0.00325667 9826 0 0.0173547
1-110564996-CAA-C c.*708_*709delAA splice_region AHCYL1 71 20254 0.00350548 10127 0 0.00264248
1-110564996-CAAA-C c.*707_*709delAAA splice_region AHCYL1 35 20406 0.00171518 10203 0 4.2851E-4
1-110564996-CAAAAAAA-C c.*703_*709delAAAAAAA splice_region AHCYL1 2 20546 9.73425E-5 10273 1 NA
1-110566356-A-T c.*2054A>T splice_region AHCYL1 2 44782 4.46608E-5 22391 0 NA