Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-46714667-A-T p.Thr3Thr synonymous ANKRD66 4 37644 1.06259E-4 18822 0 9.5645E-5
6-46714710-C-T p.Gln18* stop_gained ANKRD66 1 37662 2.6552E-5 18831 0 NA
6-46714722-A-T p.Lys22* stop_gained ANKRD66 1 37652 2.6559E-5 18826 0 7.64468E-6
6-46714733-T-A c.-19+6T>A splice_region ANKRD66 1 37620 2.65816E-5 18810 0 NA
6-46717626-C-A c.-18-7C>A splice_region ANKRD66 3 78076 3.84241E-5 39038 0 NA
6-46717635-CTGTTCTCACATT-C p.Cys25_Ile28del disruptive_inframe_deletion ANKRD66 1 78172 1.27923E-5 39086 0 6.63508E-6
6-46717649-C-T p.Ser29Leu missense ANKRD66 3 78152 3.83867E-5 39076 0 NA
6-46717651-A-G p.Met1? start_lost ANKRD66 2 78122 2.5601E-5 39061 0 NA
6-46717652-T-A p.Met1? start_lost ANKRD66 1222 78138 0.015639 39069 20 0.045
6-46717654-C-T p.His2Tyr missense ANKRD66 1 78160 1.27943E-5 39080 0 NA
6-46717680-A-G p.Thr10Thr synonymous ANKRD66 1 77996 1.28212E-5 38998 0 5.07305E-5
6-46717683-G-GA p.Met12fs frameshift ANKRD66 2 77958 2.56548E-5 38979 0 3.18613E-5
6-46717689-C-T p.Ala13Ala synonymous ANKRD66 535 77754 0.00688067 38877 2 0.00691523
6-46717690-G-A p.Gly14Arg missense ANKRD66 5 77754 6.43054E-5 38877 0 5.08285E-5
6-46717694-C-G p.Pro15Arg missense ANKRD66 1 77714 1.28677E-5 38857 0 NA
6-46717700-C-A p.Pro17His missense ANKRD66 7 77576 9.02341E-5 38788 0 4.13986E-4
6-46717717-G-GT c.66+1_66+2insT splice_donor ANKRD66 1 77040 1.29803E-5 38520 0 NA
6-46717721-G-A c.66+5G>A splice_region ANKRD66 1 76846 1.3013E-5 38423 0 NA
6-46719703-G-A p.Met32Ile missense ANKRD66 4 80514 4.96808E-5 40257 0 1.2953E-5
6-46719708-A-G p.Asp34Gly missense ANKRD66 1 80630 1.24023E-5 40315 0 NA
6-46719710-A-T p.Met35Leu missense ANKRD66 1 80636 1.24014E-5 40318 0 6.3674E-5
6-46719711-T-A p.Met35Lys missense ANKRD66 1 80718 1.23888E-5 40359 0 0.00150602
6-46719711-T-C p.Met35Thr missense ANKRD66 2 80718 2.47776E-5 40359 0 NA
6-46719743-G-A p.Asp46Asn missense ANKRD66 1 81180 1.23183E-5 40590 0 NA
6-46719747-A-G p.Tyr47Cys missense ANKRD66 2 81226 2.46227E-5 40613 0 NA
6-46719755-G-T p.Val50Leu missense ANKRD66 1 81214 1.23131E-5 40607 0 NA
6-46719785-G-A p.Asp60Asn missense ANKRD66 1 81204 1.23147E-5 40602 0 NA
6-46719787-C-T p.Asp60Asp synonymous ANKRD66 1 81204 1.23147E-5 40602 0 5.9609E-5
6-46719789-C-G p.Pro61Arg missense ANKRD66 1 81196 1.23159E-5 40598 0 NA
6-46719790-A-C p.Pro61Pro synonymous ANKRD66 1 81192 1.23165E-5 40596 0 NA
6-46719801-A-T p.Asp65Val missense ANKRD66 1 81208 1.23141E-5 40604 0 NA
6-46719802-T-C p.Asp65Asp synonymous ANKRD66 1 81180 1.23183E-5 40590 0 6.44662E-5
6-46719818-C-T p.Arg71Trp missense ANKRD66 97 80854 0.00119969 40427 0 0.00127656
6-46719819-G-A p.Arg71Gln missense ANKRD66 37 80788 4.57989E-4 40394 0 0.00202845
6-46719821-A-C p.Thr72Pro missense ANKRD66 1 80778 1.23796E-5 40389 0 3.18613E-5
6-46719833-T-C p.Trp76Arg missense ANKRD66 153 80552 0.00189939 40276 0 0.00322901
6-46719853-G-C c.241+5G>C splice_region ANKRD66 1 79756 1.25382E-5 39878 0 NA
6-46721452-A-C c.242-7A>C splice_region ANKRD66 1 80732 1.23867E-5 40366 0 NA
6-46721455-T-G c.242-4T>G splice_region ANKRD66 2 80832 2.47427E-5 40416 0 3.18695E-5
6-46721472-G-C p.Val85Val synonymous ANKRD66 1 81192 1.23165E-5 40596 0 NA
6-46721473-A-G p.Ile86Val missense ANKRD66 1 81200 1.23153E-5 40600 0 NA
6-46721476-C-T p.Arg87Trp missense ANKRD66 10 81230 1.23107E-4 40615 0 0.00125
6-46721477-G-A p.Arg87Gln missense ANKRD66 3 81224 3.69349E-5 40612 0 5.82411E-5
6-46721481-C-T p.Leu88Leu synonymous ANKRD66 4 81274 4.92162E-5 40637 0 5.57289E-5
6-46721483-T-C p.Leu89Pro missense ANKRD66 1 81276 1.23038E-5 40638 0 NA
6-46721486-T-C p.Ile1Thr missense ANKRD66 1 81304 1.22995E-5 40652 0 6.52095E-6
6-46721490-A-C p.Glu2Asp missense ANKRD66 3 81324 3.68895E-5 40662 0 NA
6-46721498-C-G p.Ala5Gly missense ANKRD66 2 81354 2.45839E-5 40677 0 6.37064E-5
6-46721499-C-T p.Ala5Ala synonymous ANKRD66 1 81366 1.22901E-5 40683 0 NA
6-46721510-T-C p.Leu9Pro missense ANKRD66 1 81406 1.22841E-5 40703 0 NA
6-46721512-G-T p.Val10Phe missense ANKRD66 1 81404 1.22844E-5 40702 0 1.29914E-5
6-46721519-G-A p.Ser12Asn missense ANKRD66 3 81418 3.68469E-5 40709 0 9.56084E-5
6-46721531-C-A p.Thr16Asn missense ANKRD66 10 81410 1.22835E-4 40705 0 6.25E-4
6-46721556-A-C p.Ala24Ala synonymous ANKRD66 2 81412 2.45664E-5 40706 0 NA
6-46721569-A-G p.Ile29Val missense ANKRD66 11 81402 1.35132E-4 40701 0 4.46144E-4
6-46721572-C-A p.Leu30Ile missense ANKRD66 4 81396 4.91425E-5 40698 0 1.29858E-5
6-46721578-ACT-A p.Leu33fs frameshift ANKRD66 1 81378 1.22883E-5 40689 0 NA
6-46721578-A-G p.Thr32Ala missense ANKRD66 1 81378 1.22883E-5 40689 0 3.19693E-5
6-46721586-T-C p.His34His synonymous ANKRD66 2 81386 2.45743E-5 40693 0 NA
6-46721591-T-C p.Leu36Ser missense ANKRD66 3 81358 3.68741E-5 40679 0 5.04847E-5
6-46721594-A-C p.His37Pro missense ANKRD66 1 81356 1.22917E-5 40678 0 6.49317E-6
6-46721594-A-G p.His37Arg missense ANKRD66 2 81356 2.45833E-5 40678 0 6.25E-4
6-46721595-C-T p.His37His synonymous ANKRD66 46 81348 5.65472E-4 40674 0 4.7789E-4
6-46721596-G-A p.Ala38Thr missense ANKRD66 2 81356 2.45833E-5 40678 0 1.01E-4
6-46721605-G-A p.Asp41Asn missense ANKRD66 12 81336 1.47536E-4 40668 0 1.29899E-5
6-46721607-C-T p.Asp41Asp synonymous ANKRD66 2 81330 2.45912E-5 40665 0 5.05051E-5
6-46721608-G-A p.Ala42Thr missense ANKRD66 1 81316 1.22977E-5 40658 0 3.89712E-5
6-46721612-C-T p.Pro43Leu missense ANKRD66 1 81314 1.2298E-5 40657 0 0.00145773
6-46721623-G-A p.Gly47Arg missense ANKRD66 1 81254 1.23071E-5 40627 0 NA
6-46721632-C-A p.Pro50Thr missense ANKRD66 2 81188 2.46342E-5 40594 0 6.25E-4
6-46721633-C-T p.Pro50Leu missense ANKRD66 3 81180 3.69549E-5 40590 0 7.7996E-5
6-46721634-G-A p.Pro50Pro synonymous ANKRD66 3 81170 3.69595E-5 40585 0 3.18674E-5
6-46721655-T-C p.Tyr57Tyr synonymous ANKRD66 11 80970 1.35853E-4 40485 1 1.59215E-4
6-46721659-C-T p.Gln59* stop_gained ANKRD66 1 80872 1.23652E-5 40436 0 NA
6-46721665-G-GA p.Ala61fs frameshift ANKRD66 1 80730 1.2387E-5 40365 0 2.61352E-5
6-46721666-C-G p.Ala61Gly missense ANKRD66 1 80708 1.23903E-5 40354 0 2.61325E-5
6-46721669-G-C p.Cys62Ser missense ANKRD66 1 80624 1.24033E-5 40312 0 3.18431E-5
6-46721681-T-A p.Leu66Gln missense ANKRD66 1 80154 1.2476E-5 40077 0 6.37146E-5
6-46721692-GT-G c.203+6delT splice_region ANKRD66 4 79216 5.04949E-5 39608 0 5.66572E-5
6-46723825-A-C p.Glu71Asp missense ANKRD66 1 9186 1.08861E-4 4593 0 2.40423E-5
6-46726452-T-C c.471-8T>C splice_region ANKRD66 1 77660 1.28766E-5 38830 0 NA
6-46726464-G-C p.Glu159Gln missense ANKRD66 27 78392 3.44423E-4 39196 0 8.94765E-4
6-46726469-C-T p.Pro160Pro synonymous ANKRD66 11 78648 1.39864E-4 39324 0 3.98618E-5
6-46726474-G-A p.Cys162Tyr missense ANKRD66 1 78910 1.26727E-5 39455 0 NA
6-46726485-C-T p.Arg166Cys missense ANKRD66 1 79512 1.25767E-5 39756 0 3.18451E-5
6-46726490-C-T p.Cys167Cys synonymous ANKRD66 4 79796 5.01278E-5 39898 0 1.57138E-4
6-46726491-G-A p.Ala168Thr missense ANKRD66 1 79912 1.25138E-5 39956 0 9.55292E-5
6-46726494-G-A p.Ala169Thr missense ANKRD66 1 80068 1.24894E-5 40034 0 NA
6-46726500-C-A p.Gln171Lys missense ANKRD66 9969 80014 0.124591 40007 697 0.153203
6-46726503-A-G p.Lys172Glu missense ANKRD66 1 80552 1.24143E-5 40276 0 NA
6-46726506-G-A p.Gly173Arg missense ANKRD66 15 80678 1.85924E-4 40339 0 7.75396E-4
6-46726524-C-T p.Arg179Cys missense ANKRD66 34 81116 4.19153E-4 40558 0 5.73285E-4
6-46726524-C-A p.Arg179Ser missense ANKRD66 1 81116 1.2328E-5 40558 0 NA
6-46726525-G-A p.Arg179His missense ANKRD66 1 81136 1.2325E-5 40568 0 2.6018E-5
6-46726551-A-C p.Arg188Arg synonymous ANKRD66 1 81316 1.22977E-5 40658 0 1.29965E-5
6-46726553-G-A p.Arg188Arg synonymous ANKRD66 29 81310 3.5666E-4 40655 0 6.26566E-4
6-46726557-C-G p.Leu190Val missense ANKRD66 1 81326 1.22962E-5 40663 0 3.1839E-5
6-46726565-G-A p.Leu192Leu synonymous ANKRD66 1 81332 1.22953E-5 40666 0 NA
6-46726591-T-G p.Met201Arg missense ANKRD66 1 81332 1.22953E-5 40666 0 NA
6-46726598-A-C p.Lys203Asn missense ANKRD66 3 81344 3.68804E-5 40672 0 NA
6-46726606-A-T p.Lys206Met missense ANKRD66 1 81304 1.22995E-5 40652 0 2.59926E-5
6-46726609-A-G p.Lys207Arg missense ANKRD66 1 81288 1.23019E-5 40644 0 6.25E-4
6-46726614-C-T p.Arg209* stop_gained ANKRD66 1 81256 1.23068E-5 40628 0 5.14297E-5
6-46726614-C-G p.Arg209Gly missense ANKRD66 3 81256 3.69204E-5 40628 0 6.50449E-6
6-46726618-G-A p.Gly210Asp missense ANKRD66 1 81210 1.23138E-5 40605 0 NA
6-46726619-C-A p.Gly210Gly synonymous ANKRD66 1 81204 1.23147E-5 40602 0 NA
6-46726628-GC-G p.Ser215fs frameshift ANKRD66 1 81180 1.23183E-5 40590 0 NA
6-46726628-G-T p.Arg213Ser missense ANKRD66 1 81180 1.23183E-5 40590 0 0.0023753
6-46726634-C-A p.Ser215Arg missense ANKRD66 230 81146 0.0028344 40573 0 0.00617952
6-46726636-AT-A p.Asn216fs frameshift ANKRD66 1 81146 1.23235E-5 40573 0 6.52392E-6
6-46726646-G-C p.Gly219Gly synonymous ANKRD66 1 81098 1.23308E-5 40549 0 NA