Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-11714555-A-G n.712T>C splice_region ADTRP 1 73558 1.35947E-5 36779 0 NA
6-11714563-G-A c.*144+4C>T splice_region ADTRP 2 74726 2.67644E-5 37363 0 NA
6-11714565-A-C c.*144+2T>G splice_donor ADTRP 1 75376 1.32668E-5 37688 0 NA
6-11714715-T-C p.Lys248Arg missense ADTRP 2 81440 2.4558E-5 40720 0 NA
6-11714724-T-C p.Lys245Arg missense ADTRP 12 81314 1.47576E-4 40657 0 1.7297E-4
6-11714727-C-T p.Arg244Gln missense ADTRP 4 81232 4.92417E-5 40616 0 7.63967E-5
6-11714728-G-A p.Arg244Trp missense ADTRP 4 81188 4.92684E-5 40594 0 3.18979E-5
6-11714746-C-CCCATTTCCAGTGGTTGAGCTTCTCTCCAAGTAGGTAGA c.713-2_713-1insTCTACCTACTTGGAGAGAAGCTCAACCACTGGAAATGG splice_acceptor ADTRP 1 80892 1.23622E-5 40446 0 NA
6-11714746-C-CCCA c.713-2_713-1insTGG splice_acceptor ADTRP 1 80896 1.23616E-5 40448 0 NA
6-11714746-C-CCCATTTCCAG c.713-2_713-1insCTGGAAATGG splice_acceptor ADTRP 2 80896 2.47231E-5 40448 0 NA
6-11714752-A-G c.713-7T>C splice_region ADTRP 2 80796 2.47537E-5 40398 0 3.18532E-5
6-11717558-G-C p.Leu250Val missense ADTRP 3 53366 5.62156E-5 26683 0 NA
6-11717569-G-C p.Ala246Gly missense ADTRP 10 53374 1.87357E-4 26687 0 2.86642E-4
6-11717573-G-C p.Pro245Ala missense ADTRP 3790 53320 0.0710803 26660 358 0.115176
6-11717574-T-C p.Ser244Ser synonymous ADTRP 4 53366 7.49541E-5 26683 0 2.54777E-4
6-11717581-C-T p.Trp242* stop_gained ADTRP 1 53372 1.87364E-5 26686 0 NA
6-11717583-A-G p.Asp241Asp synonymous ADTRP 3 53362 5.62198E-5 26681 0 6.37186E-5
6-11717585-C-T p.Asp241Asn missense ADTRP 2 53362 3.74799E-5 26681 0 9.3737E-5
6-11717602-A-T p.Ile235Asn missense ADTRP 2 53372 3.74728E-5 26686 0 NA
6-11717643-A-C p.Ser221Ser synonymous ADTRP 1 53354 1.87427E-5 26677 0 6.7273E-6
6-11717650-G-A c.659-3C>T splice_region ADTRP 2 53352 3.74869E-5 26676 0 4.02944E-5
6-11717651-C-T c.659-4G>A splice_region ADTRP 1 53350 1.87441E-5 26675 0 6.36862E-5
6-11723583-C-T p.Trp237* stop_gained ADTRP 1 83400 1.19904E-5 41700 0 NA
6-11723586-T-C p.Lys236Lys synonymous ADTRP 1 83404 1.19898E-5 41702 0 NA
6-11723588-T-C p.Lys236Glu missense ADTRP 2 83404 2.39797E-5 41702 0 3.97928E-6
6-11723589-C-T p.Trp235* stop_gained ADTRP 1 83400 1.19904E-5 41700 0 NA
6-11723594-G-A p.His234Tyr missense ADTRP 1 83400 1.19904E-5 41700 0 7.95615E-6
6-11723602-T-C p.Lys231Arg missense ADTRP 1 83406 1.19895E-5 41703 0 NA
6-11723615-G-C p.Leu227Val missense ADTRP 1 83408 1.19893E-5 41704 0 NA
6-11723617-T-C p.Tyr226Cys missense ADTRP 5 83410 5.99449E-5 41705 0 8.23805E-6
6-11723623-C-T p.Ser224Asn missense ADTRP 2 83414 2.39768E-5 41707 0 1.64747E-5
6-11723623-C-A p.Ser224Ile missense ADTRP 1 83414 1.19884E-5 41707 0 1.59062E-5
6-11723627-C-T p.Ala223Thr missense ADTRP 1 83418 1.19878E-5 41709 0 8.23723E-6
6-11723628-G-A p.Ile222Ile synonymous ADTRP 5 83418 5.99391E-5 41709 0 4.11855E-5
6-11723636-C-T p.Val220Ile missense ADTRP 4435 83354 0.0532068 41677 277 0.0830152
6-11723652-G-T p.Phe214Leu missense ADTRP 1 83416 1.19881E-5 41708 0 7.95292E-6
6-11723658-T-C p.Ala212Ala synonymous ADTRP 1 83414 1.19884E-5 41707 0 8.23655E-6
6-11723667-C-G p.Leu209Phe missense ADTRP 1 83422 1.19872E-5 41711 0 1.19291E-5
6-11723678-G-C p.Leu206Val missense ADTRP 3 83416 3.59643E-5 41708 0 NA
6-11723682-G-A p.Ala204Ala synonymous ADTRP 1 83416 1.19881E-5 41708 0 3.97655E-6
6-11723687-A-G p.Phe203Leu missense ADTRP 2 83418 2.39756E-5 41709 0 NA
6-11723699-C-T p.Val199Met missense ADTRP 3 83416 3.59643E-5 41708 0 3.97703E-6
6-11723704-G-A p.Thr197Ile missense ADTRP 1 83406 1.19895E-5 41703 0 NA
6-11723709-C-T p.Thr195Thr synonymous ADTRP 5 83406 5.99477E-5 41703 0 3.18573E-4
6-11723736-G-GGCCTGGCCATGCCCCGCTTCCATCTGGAGATCTGCAGTCCATCCATATTGAACCC c.561-4_561-3insGGGTTCAATATGGATGGACTGCAGATCTCCAGATGGAAGCGGGGCATGGCCAGGC splice_region ADTRP 1 83340 1.1999E-5 41670 0 NA
6-11723736-G-T c.561-3C>A splice_region ADTRP 1 83344 1.19985E-5 41672 0 NA
6-11723737-C-T c.561-4G>A splice_region ADTRP 2 83328 2.40015E-5 41664 0 8.25573E-6
6-11735802-G-A p.Arg187Cys missense+splice_region ADTRP 4 83036 4.81719E-5 41518 0 6.25E-4
6-11735805-T-C p.Ser168Gly missense+splice_region ADTRP 5 83072 6.01888E-5 41536 0 0.00375
6-11735811-A-C p.Tyr184Asp missense ADTRP 6 83078 7.22213E-5 41539 0 5.58554E-4
6-11735837-G-A p.Thr175Ile missense ADTRP 1 83184 1.20215E-5 41592 0 NA
6-11735841-G-A p.Leu174Phe missense ADTRP 2 83212 2.4035E-5 41606 0 3.18552E-5
6-11735861-T-C p.Tyr167Cys missense ADTRP 1 83234 1.20143E-5 41617 0 8.29738E-6
6-11735873-C-G p.Arg163Thr missense ADTRP 1 83276 1.20083E-5 41638 0 3.97845E-6
6-11735875-G-A p.Leu162Leu synonymous ADTRP 4 83278 4.80319E-5 41639 0 2.49049E-5
6-11735877-GGAC-G p.Val161del conservative_inframe_deletion ADTRP 1 83266 1.20097E-5 41633 0 6.37308E-5
6-11735880-C-T p.Val161Ile missense ADTRP 4 83252 4.80469E-5 41626 0 3.18674E-5
6-11735881-G-A p.Val160Val synonymous ADTRP 1 83248 1.20123E-5 41624 0 1.59146E-5
6-11735893-T-C p.Thr156Thr synonymous ADTRP 1 83236 1.2014E-5 41618 0 NA
6-11735896-G-A p.Ile155Ile synonymous ADTRP 1 83248 1.20123E-5 41624 0 2.50635E-5
6-11735897-A-T p.Ile155Asn missense ADTRP 3 83244 3.60386E-5 41622 0 5.02538E-5
6-11735902-G-A p.Phe153Phe synonymous ADTRP 1 83210 1.20178E-5 41605 0 3.97969E-6
6-11735919-G-T c.445-3C>A splice_region ADTRP 1 83060 1.20395E-5 41530 0 8.62247E-6
6-11735922-G-A c.445-6C>T splice_region ADTRP 1 83014 1.20462E-5 41507 0 1.73557E-5
6-11766500-CA-C c.444+6delT splice_region ADTRP 1 82908 1.20616E-5 41454 0 8.25423E-6
6-11766502-C-T c.444+5G>A splice_region ADTRP 2 82924 2.41185E-5 41462 0 NA
6-11766503-T-A c.444+4A>T splice_region ADTRP 2 82940 2.41138E-5 41470 0 NA
6-11766509-T-C p.Met148Val missense+splice_region ADTRP 2 82980 2.41022E-5 41490 0 2.47349E-5
6-11766520-A-G p.Leu144Pro missense ADTRP 1 83048 1.20412E-5 41524 0 0.00151057
6-11766527-C-T p.Val142Met missense ADTRP 14 83076 1.6852E-4 41538 0 4.36084E-4
6-11766527-C-G p.Val142Leu missense ADTRP 1 83076 1.20372E-5 41538 0 NA
6-11766528-G-A p.Pro141Pro synonymous ADTRP 1 83090 1.20351E-5 41545 0 3.19977E-5
6-11766542-C-T p.Asp137Asn missense ADTRP 1 83122 1.20305E-5 41561 0 NA
6-11766543-T-A p.Leu136Leu synonymous ADTRP 1 83116 1.20314E-5 41558 0 8.23818E-6
6-11766550-T-C p.Lys134Arg missense ADTRP 61 83100 7.34055E-4 41550 1 0.00187958
6-11766561-G-T p.Leu130Leu synonymous ADTRP 2 83118 2.40622E-5 41559 0 NA
6-11766566-C-T p.Asp129Asn missense ADTRP 1 83116 1.20314E-5 41558 0 NA
6-11766568-C-T p.Arg128Gln missense ADTRP 2 83074 2.40749E-5 41537 0 1.19771E-5
6-11766573-G-T p.Tyr126* stop_gained ADTRP 1 83100 1.20337E-5 41550 0 8.23968E-6
6-11766578-GA-G p.Leu125fs frameshift ADTRP 1 83090 1.20351E-5 41545 0 3.18654E-5
6-11766595-GC-G p.Ala119fs frameshift ADTRP 1 82958 1.20543E-5 41479 0 3.18898E-5
6-11766597-CA-C p.Leu118fs frameshift ADTRP 1 82916 1.20604E-5 41458 0 1.20363E-5
6-11766607-A-T p.Phe115Tyr missense+splice_region ADTRP 678 82790 0.0081894 41395 23 0.0160859
6-11768482-C-T p.Thr114Thr splice_region+synonymous ADTRP 134 83356 0.00160756 41678 0 0.00160124
6-11768483-G-A p.Thr114Met missense+splice_region ADTRP 3 83360 3.59885E-5 41680 0 NA
6-11768493-G-A p.Pro111Ser missense ADTRP 1 83370 1.19947E-5 41685 0 1.64856E-5
6-11768524-G-C p.Phe100Leu missense ADTRP 2 83384 2.39854E-5 41692 0 NA
6-11768527-G-A p.Ala99Ala synonymous ADTRP 3 83380 3.59799E-5 41690 0 NA
6-11768544-T-C p.Ile94Val missense ADTRP 1 83384 1.19927E-5 41692 0 NA
6-11768547-CT-C p.Asp93fs frameshift ADTRP 1 83378 1.19936E-5 41689 0 NA
6-11768552-C-T p.Gly91Glu missense ADTRP 1 83376 1.19939E-5 41688 0 3.97636E-6
6-11768555-C-T p.Gly90Glu missense ADTRP 1 83384 1.19927E-5 41692 0 NA
6-11768575-A-T p.Asp83Glu missense ADTRP 1 83370 1.19947E-5 41685 0 3.1839E-5
6-11768578-A-G p.Met84Thr missense ADTRP 1 83368 1.1995E-5 41684 0 NA
6-11768580-C-T p.Trp83* stop_gained ADTRP 1 83368 1.1995E-5 41684 0 NA
6-11768592-C-A p.Val78Phe missense ADTRP 2 83344 2.39969E-5 41672 0 NA
6-11768592-C-T p.Val78Ile missense ADTRP 1 83344 1.19985E-5 41672 0 NA
6-11768593-C-G p.Gly79Ala missense ADTRP 13 83344 1.5598E-4 41672 0 0.00125
6-11768595-C-T p.Gly77Arg missense ADTRP 3 83338 3.5998E-5 41669 0 6.25E-4
6-11768596-G-A p.Thr78Met missense ADTRP 4 83338 4.79973E-5 41669 0 3.29538E-5
6-11768619-A-G c.208-3T>C splice_region ADTRP 25 83276 3.00207E-4 41638 0 8.27815E-4
6-11770257-A-G c.207+7T>C splice_region ADTRP 2 81362 2.45815E-5 40681 0 NA
6-11770258-A-G c.207+6T>C splice_region ADTRP 3 81368 3.68695E-5 40684 0 NA
6-11770262-A-G c.207+2T>C splice_donor ADTRP 511 81366 0.00628026 40683 9 0.0120716
6-11770263-C-G c.207+1G>C splice_donor ADTRP 1 81374 1.22889E-5 40687 0 5.05663E-5
6-11770268-C-T p.Arg68Lys missense ADTRP 5 81384 6.14371E-5 40692 0 0.001875
6-11770271-A-G p.Phe67Ser missense ADTRP 7 81376 8.60204E-5 40688 0 3.89443E-5
6-11770285-G-A p.Thr64Ile missense ADTRP 41 81378 5.03822E-4 40689 0 0.00136943
6-11770289-A-T p.Ile61Asn missense ADTRP 3 81376 3.68659E-5 40688 0 NA
6-11770290-T-C p.Ile61Val missense ADTRP 1 81380 1.2288E-5 40690 0 NA
6-11770297-C-A p.Gly60Val missense ADTRP 2 81368 2.45797E-5 40684 0 NA
6-11770301-G-A p.Ala57Val missense ADTRP 1 81380 1.2288E-5 40690 0 NA
6-11770308-T-C p.Arg55Gly missense ADTRP 11 81366 1.35192E-4 40683 0 1.55848E-4
6-11770320-A-G p.Ser52Ser splice_region+synonymous ADTRP 11 81306 1.35291E-4 40653 0 1.96014E-4
6-11770326-C-A c.154-4G>T splice_region ADTRP 1 81216 1.23128E-5 40608 0 2.00363E-5
6-11770327-G-A c.154-5C>T splice_region ADTRP 3 81242 3.69267E-5 40621 0 NA
6-11778833-G-A c.153+7C>T splice_region ADTRP 1 83394 1.19913E-5 41697 0 6.36862E-5
6-11778835-C-T c.153+5G>A splice_region ADTRP 1 83394 1.19913E-5 41697 0 7.96311E-6
6-11778853-G-A p.Thr47Met missense ADTRP 1 83410 1.1989E-5 41705 0 3.97776E-6
6-11778856-A-G p.Met46Thr missense ADTRP 1 83410 1.1989E-5 41705 0 3.97712E-6
6-11778859-T-A p.Tyr45Phe missense ADTRP 1 83414 1.19884E-5 41707 0 8.24429E-6
6-11778860-A-C p.Tyr45Asp missense ADTRP 3 83412 3.5966E-5 41706 0 1.27421E-4
6-11778862-T-A p.Lys44Ile missense ADTRP 1 83412 1.19887E-5 41706 0 8.24266E-6
6-11778864-C-G p.Trp43Cys missense ADTRP 1 83410 1.1989E-5 41705 0 NA
6-11778872-C-T p.Ala41Thr missense ADTRP 1 83412 1.19887E-5 41706 0 NA
6-11778877-T-C p.Asn39Ser missense ADTRP 1 83412 1.19887E-5 41706 0 8.23764E-6
6-11778891-G-A p.Pro34Pro synonymous ADTRP 1 83408 1.19893E-5 41704 0 2.47105E-5
6-11778891-G-C p.Pro34Pro synonymous ADTRP 1 83408 1.19893E-5 41704 0 3.97646E-6
6-11778902-C-T p.Glu31Lys missense ADTRP 5 83402 5.99506E-5 41701 0 4.94201E-5
6-11778903-G-A p.Asp30Asp synonymous ADTRP 1 83402 1.19901E-5 41701 0 3.18492E-5
6-11778909-T-C p.Gly28Gly synonymous ADTRP 1 83394 1.19913E-5 41697 0 7.95292E-6
6-11778912-T-C p.Glu27Glu synonymous ADTRP 2 83392 2.39831E-5 41696 0 3.18492E-5
6-11778920-A-G p.Ser25Pro missense ADTRP 1 83388 1.19921E-5 41694 0 NA
6-11778926-A-G p.Tyr23His missense ADTRP 10 83376 1.19939E-4 41688 0 1.15321E-4
6-11778926-A-C p.Tyr23Asp missense ADTRP 1 83376 1.19939E-5 41688 0 1.31787E-4
6-11778933-G-T p.Leu20Leu synonymous ADTRP 1 83364 1.19956E-5 41682 0 NA
6-11778940-G-A p.Thr18Ile missense ADTRP 2 83360 2.39923E-5 41680 0 NA
6-11778951-C-T p.Leu14Leu synonymous ADTRP 30 83336 3.59988E-4 41668 0 5.09522E-4
6-11778964-T-C p.His10Arg missense ADTRP 2 83316 2.4005E-5 41658 0 2.38631E-5
6-11778969-T-C p.Ile8Met missense ADTRP 1 83314 1.20028E-5 41657 0 9.55292E-5
6-11778970-A-G p.Ile8Thr missense ADTRP 2 83310 2.40067E-5 41655 0 5.03525E-4
6-11778972-G-A p.Cys7Cys synonymous ADTRP 1 83312 1.20031E-5 41656 0 3.97899E-6
6-11778978-A-T p.Ser5Ser synonymous ADTRP 2 83298 2.40102E-5 41649 0 6.3678E-5
6-11778980-A-G p.Ser5Pro missense ADTRP 1 83286 1.20068E-5 41643 0 3.98086E-6
6-11778982-G-A p.Thr4Ile missense ADTRP 1 83270 1.20091E-5 41635 0 6.25E-4
6-11778983-T-C p.Thr4Ala missense ADTRP 5 83266 6.00485E-5 41633 0 3.1841E-5
6-11778987-C-T p.Thr2Thr synonymous ADTRP 17 83240 2.04229E-4 41620 0 1.07566E-4
6-11778988-G-A p.Thr2Met missense ADTRP 8 83228 9.61215E-5 41614 0 6.61463E-5
6-11778996-G-A c.-4C>T 5_prime_UTR_premature_start_codon_gain ADTRP 3 83174 3.6069E-5 41587 0 7.45206E-5
6-11779007-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain ADTRP 2 83102 2.40668E-5 41551 0 6.36862E-5
6-11779013-C-T c.-21G>A 5_prime_UTR_premature_start_codon_gain ADTRP 8 83006 9.63786E-5 41503 0 2.16526E-4
6-11779015-G-A c.-23C>T 5_prime_UTR_premature_start_codon_gain ADTRP 30 82954 3.61646E-4 41477 0 7.00682E-4
6-11779040-G-A c.-48C>T 5_prime_UTR_premature_start_codon_gain ADTRP 9 81804 1.10019E-4 40902 0 2.54777E-4
6-11779079-G-A c.-87C>T 5_prime_UTR_premature_start_codon_gain ADTRP 2 76688 2.60797E-5 38344 0 NA
6-11779205-T-C c.-207-6A>G splice_region ADTRP 1 32620 3.0656E-5 16310 0 NA
6-11779270-G-A c.-278C>T 5_prime_UTR_premature_start_codon_gain ADTRP 1 11190 8.93655E-5 5595 0 6.3678E-5
6-11779287-T-A c.-295A>T 5_prime_UTR_premature_start_codon_gain ADTRP 1 8574 1.16632E-4 4287 0 2.5468E-4