Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-111697874-G-C c.-35G>C 5_prime_UTR_premature_start_codon_gain ABHD10 1 82142 1.2174E-5 41071 0 NA
3-111697904-C-T c.-5C>T 5_prime_UTR_premature_start_codon_gain ABHD10 2 82668 2.41932E-5 41334 0 4.02126E-6
3-111697909-A-G p.Met1? start_lost ABHD10 3 82644 3.63003E-5 41322 0 3.18492E-5
3-111697911-G-C p.Met1? start_lost ABHD10 1 82622 1.21033E-5 41311 0 NA
3-111697914-G-C p.Ala2Ala synonymous ABHD10 3 82606 3.6317E-5 41303 0 NA
3-111697914-G-A p.Ala2Ala synonymous ABHD10 1 82606 1.21057E-5 41303 0 1.69256E-5
3-111697922-G-C p.Arg5Pro missense ABHD10 102 82538 0.00123579 41269 1 0.00292938
3-111697925-T-C p.Leu6Ser missense ABHD10 1 82546 1.21145E-5 41273 0 NA
3-111697927-G-A p.Ala7Thr missense ABHD10 1 82522 1.2118E-5 41261 0 4.01465E-6
3-111697930-GC-TT p.Ala8Phe missense ABHD10 1 82444 1.21294E-5 41222 0 NA
3-111697931-C-A p.Ala8Asp missense ABHD10 65 82436 7.8849E-4 41218 0 0.00504541
3-111697933-G-T p.Val9Leu missense ABHD10 5 82446 6.06458E-5 41223 0 5.08673E-5
3-111697937-C-T p.Ala10Val missense ABHD10 1 82328 1.21465E-5 41164 0 NA
3-111697937-C-G p.Ala10Gly missense ABHD10 1 82328 1.21465E-5 41164 0 NA
3-111697940-C-A p.Ala11Asp missense ABHD10 4 82138 4.86985E-5 41069 0 2.54825E-5
3-111697941-C-G p.Ala11Ala synonymous ABHD10 1 82208 1.21643E-5 41104 0 NA
3-111697944-G-A p.Trp12* stop_gained ABHD10 2 82148 2.43463E-5 41074 0 1.20657E-5
3-111697945-G-C p.Val13Leu missense ABHD10 1 82122 1.2177E-5 41061 0 NA
3-111697950-T-C c.-246T>C 5_prime_UTR_premature_start_codon_gain ABHD10 1 81990 1.21966E-5 40995 0 1.20766E-5
3-111697954-C-T p.Arg16Trp missense ABHD10 1 81868 1.22148E-5 40934 0 4.02567E-6
3-111697957-A-G p.Ser17Gly missense ABHD10 2 81760 2.44618E-5 40880 0 2.3795E-4
3-111697963-G-A p.Gly19Ser missense ABHD10 2 81764 2.44606E-5 40882 0 4.02696E-6
3-111697973-C-T p.Ala22Val missense ABHD10 1 81332 1.22953E-5 40666 0 NA
3-111697975-G-C p.Val23Leu missense ABHD10 2 81314 2.4596E-5 40657 0 5.11465E-5
3-111697981-T-C p.Phe25Leu missense ABHD10 1 81326 1.22962E-5 40663 0 NA
3-111697984-G-T p.Gly26Cys missense ABHD10 1 81096 1.23311E-5 40548 0 4.03985E-6
3-111697987-C-T p.Pro27Ser missense ABHD10 104 81042 0.00128329 40521 0 0.00125
3-111697998-C-A p.Gly30Gly synonymous ABHD10 1 80848 1.23689E-5 40424 0 NA
3-111697999-C-T p.Leu31Phe missense ABHD10 1 80916 1.23585E-5 40458 0 8.54409E-6
3-111698001-C-T p.Leu31Leu synonymous ABHD10 1 80864 1.23664E-5 40432 0 2.02344E-5
3-111698016-A-G p.Ala36Ala synonymous ABHD10 55 80672 6.81773E-4 40336 0 0.00178378
3-111698022-A-G p.Ile38Met missense ABHD10 4 80508 4.96845E-5 40254 0 8.63245E-6
3-111698025-T-C p.Pro39Pro synonymous ABHD10 13 80428 1.61635E-4 40214 0 1.59307E-4
3-111698029-C-T p.Arg41Trp missense ABHD10 2 80332 2.48967E-5 40166 0 8.70595E-6
3-111698036-C-CA p.Arg44fs frameshift ABHD10 1 80312 1.24514E-5 40156 0 NA
3-111698048-C-G p.Pro47Arg missense+splice_region ABHD10 1 80176 1.24726E-5 40088 0 1.8568E-4
3-111698050-G-GATTCTT c.142_142+1insATTCTT splice_donor ABHD10 3 80130 3.74392E-5 40065 0 NA
3-111698051-G-GTTTGATTACTCAGGAGTTGGAAGTTCAGATGGTAAC c.142+1_142+2insTTTGATTACTCAGGAGTTGGAAGTTCAGATGGTAAC splice_donor ABHD10 3 80086 3.74597E-5 40043 0 NA
3-111698051-G-GTTTGATTAC c.142+1_142+2insTTTGATTAC splice_donor ABHD10 1 80086 1.24866E-5 40043 0 NA
3-111698052-T-TTTGATTACTCAGGAGTTGGAAGTTCAGATGGTAACTCAGAGGAAAGCA c.142+2_142+3insTTGATTACTCAGGAGTTGGAAGTTCAGATGGTAACTCAGAGGAAAGCA splice_region ABHD10 1 80020 1.24969E-5 40010 0 NA
3-111698052-T-TTGGATCTAGCCTTGGAGGGTGGCTTATGCTTCATGCTG c.142+2_142+3insTGGATCTAGCCTTGGAGGGTGGCTTATGCTTCATGCTG splice_region ABHD10 2 80020 2.49938E-5 40010 0 NA
3-111698052-T-TTGGATCTAGCCTTGGAGGGTGGCTTATG c.142+2_142+3insTGGATCTAGCCTTGGAGGGTGGCTTATG splice_region ABHD10 1 80020 1.24969E-5 40010 0 NA
3-111698054-A-C c.142+4A>C splice_region ABHD10 1 79986 1.25022E-5 39993 0 3.18451E-5
3-111700625-GT-G c.143-5delT splice_region ABHD10 1 81402 1.22847E-5 40701 0 2.50108E-5
3-111700647-G-A p.Thr53Thr synonymous ABHD10 4 81674 4.89752E-5 40837 0 0.00125
3-111700655-C-T p.Ser56Leu missense ABHD10 1 82222 1.21622E-5 41111 0 4.00144E-6
3-111700660-C-T p.Leu58Phe missense ABHD10 1 82384 1.21383E-5 41192 0 NA
3-111700666-C-G p.Arg60Gly missense ABHD10 1 82540 1.21153E-5 41270 0 1.59594E-5
3-111700695-G-T p.Lys69Asn missense ABHD10 1 82990 1.20496E-5 41495 0 NA
3-111700701-A-G p.Leu71Leu synonymous ABHD10 1 83006 1.20473E-5 41503 0 NA
3-111700718-G-T p.Gly77Val missense ABHD10 2 83038 2.40854E-5 41519 0 NA
3-111700725-C-A p.Ile79Ile synonymous ABHD10 1 83012 1.20465E-5 41506 0 NA
3-111700740-T-C p.Tyr84Tyr synonymous ABHD10 153 83058 0.00184209 41529 0 0.00352467
3-111700742-T-C p.Leu85Pro missense ABHD10 3 83056 3.61202E-5 41528 0 3.97829E-6
3-111700748-A-G p.Tyr87Cys missense ABHD10 2 83062 2.40784E-5 41531 0 3.97817E-6
3-111700749-T-C p.Tyr87Tyr synonymous ABHD10 1 83066 1.20386E-5 41533 0 1.64783E-5
3-111700765-G-A p.Ala93Thr missense ABHD10 1 82902 1.20624E-5 41451 0 3.986E-6
3-111700766-C-T p.Ala93Val missense ABHD10 2 82606 2.42113E-5 41303 0 6.59544E-5
3-111700767-G-A p.Ala93Ala synonymous ABHD10 1 82482 1.21239E-5 41241 0 6.25E-4
3-111700771-G-T p.Ala95Ser missense ABHD10 1 82448 1.21289E-5 41224 0 NA
3-111700776-TGAG-T p.Glu98del conservative_inframe_deletion ABHD10 1 82382 1.21386E-5 41191 0 7.43138E-5
3-111700790-A-G p.Lys101Arg missense ABHD10 12 82318 1.45776E-4 41159 0 2.67623E-4
3-111700791-ATCTCTAGG-A p.Leu103fs frameshift ABHD10 1 82256 1.21572E-5 41128 0 NA
3-111700796-T-A p.Leu103Gln missense ABHD10 1 82204 1.21649E-5 41102 0 NA
3-111700801-C-T p.His105Tyr missense ABHD10 2 82008 2.43879E-5 41004 0 NA
3-111700803-C-T p.His105His synonymous ABHD10 3 81604 3.67629E-5 40802 0 2.50643E-5
3-111700804-G-A p.Ala106Thr missense ABHD10 3 81620 3.67557E-5 40810 0 1.21262E-5
3-111700805-C-G p.Ala106Gly missense ABHD10 1 81636 1.22495E-5 40818 0 3.18573E-5
3-111700810-A-G p.Ile108Val missense ABHD10 15 81452 1.84158E-4 40726 0 3.64751E-5
3-111700812-A-G p.Ile108Met missense+splice_region ABHD10 4 81274 4.92162E-5 40637 0 6.90058E-5
3-111700815-G-A c.326+1G>A splice_donor ABHD10 2 81200 2.46305E-5 40600 0 NA
3-111700819-G-A c.326+5G>A splice_region ABHD10 1 80938 1.23551E-5 40469 0 8.54555E-6
3-111705124-G-A p.Gly114Arg missense ABHD10 1 83092 1.20349E-5 41546 0 NA
3-111705142-G-A p.Gly120Ser missense ABHD10 4 83178 4.80896E-5 41589 0 2.06152E-4
3-111705151-G-T p.Glu123* stop_gained ABHD10 4 83194 4.80804E-5 41597 0 NA
3-111705156-A-G p.Lys63Arg missense ABHD10 1 83224 1.20158E-5 41612 0 3.18573E-5
3-111705192-T-C p.Leu75Pro missense ABHD10 33 83174 3.96759E-4 41587 2 0.0020141
3-111705202-G-A p.Asp140Asn missense ABHD10 1 83148 1.20267E-5 41574 0 NA
3-111705219-A-C p.Pro145Pro synonymous ABHD10 1 83018 1.20456E-5 41509 0 9.55597E-5
3-111705220-C-T p.Gln146* stop_gained ABHD10 2 82998 2.4097E-5 41499 0 NA
3-111705221-A-T p.Gln146Leu missense+splice_region ABHD10 1 83004 1.20476E-5 41502 0 1.65832E-5
3-111705227-C-T c.438+5C>T splice_region ABHD10 1 82920 1.20598E-5 41460 0 3.18654E-5
3-111705229-G-A c.438+7G>A splice_region ABHD10 4 82882 4.82614E-5 41441 0 NA
3-111705772-A-G p.Ile52Val missense ABHD10 2 83122 2.4061E-5 41561 0 NA
3-111705792-T-A p.Leu157His missense ABHD10 1 83274 1.20085E-5 41637 0 8.24063E-6
3-111705798-T-C p.Leu159Pro missense ABHD10 1 83300 1.20048E-5 41650 0 3.29603E-5
3-111705800-C-T p.His160Tyr missense ABHD10 31 83288 3.72202E-4 41644 0 1.3213E-4
3-111705815-C-T p.Arg165* stop_gained ABHD10 1 83304 1.20042E-5 41652 0 1.99894E-5
3-111705816-G-A p.Arg165Gln missense ABHD10 3 83300 3.60144E-5 41650 0 8.23845E-6
3-111705818-C-G p.Pro166Ala missense ABHD10 1 83312 1.20031E-5 41656 0 NA
3-111705827-G-T p.Val169Phe missense ABHD10 2 83332 2.40004E-5 41666 0 3.98683E-6
3-111705828-T-A p.Val169Asp missense ABHD10 1 83330 1.20005E-5 41665 0 NA
3-111705830-G-A p.Val170Met missense ABHD10 3 83320 3.60058E-5 41660 0 4.94242E-5
3-111705840-T-C p.Ile173Thr missense ABHD10 1 83324 1.20013E-5 41662 0 9.55353E-5
3-111705845-G-A p.Val175Ile missense ABHD10 4 83334 4.79996E-5 41667 0 1.19745E-5
3-111705852-C-T p.Thr177Ile missense ABHD10 1 83332 1.20002E-5 41666 0 8.2371E-6
3-111705873-C-A p.Thr184Lys missense ABHD10 10 83302 1.20045E-4 41651 0 1.91131E-4
3-111705880-T-C p.Phe186Phe synonymous ABHD10 2 83298 2.40102E-5 41649 0 NA
3-111709543-A-G c.577-4A>G splice_region ABHD10 1 69858 1.43148E-5 34929 0 9.59202E-5
3-111709551-C-G p.Ser194Cys missense ABHD10 1 70602 1.41639E-5 35301 0 NA
3-111709557-G-A p.Arg196Lys missense ABHD10 1 70554 1.41735E-5 35277 0 1.94757E-5
3-111709591-TTGCA-T c.*6_*9delCATG splice_region ABHD10 1 69904 1.43053E-5 34952 0 NA
3-111709599-G-A c.*10+1G>A splice_donor ABHD10 97 69594 0.0013938 34797 1 0.00258472
3-111710219-A-G c.577-5A>G splice_region ABHD10 1 81548 1.22627E-5 40774 0 1.77032E-5
3-111710224-C-G p.Leu193Val missense+splice_region ABHD10 2 81932 2.44105E-5 40966 0 3.19387E-5
3-111710231-A-T p.Lys195Met missense ABHD10 3 82290 3.64564E-5 41145 0 1.59226E-4
3-111710237-T-C p.Val197Ala missense ABHD10 1 82482 1.21239E-5 41241 0 4.2095E-6
3-111710239-G-A p.Glu198Lys missense ABHD10 2 82556 2.4226E-5 41278 0 1.68294E-5
3-111710243-T-C p.Met199Thr missense ABHD10 2 82678 2.41902E-5 41339 0 1.65533E-5
3-111710244-G-A p.Met199Ile missense ABHD10 4 82728 4.83512E-5 41364 0 8.27595E-5
3-111710258-G-A p.Ser204Asn missense ABHD10 1 82954 1.20549E-5 41477 0 NA
3-111710259-C-T p.Ser204Ser synonymous ABHD10 3 82966 3.61594E-5 41483 0 3.30502E-5
3-111710277-TGAA-T p.Glu212del disruptive_inframe_deletion ABHD10 23 83174 2.76529E-4 41587 0 5.11425E-4
3-111710284-G-A p.Gly213Arg missense ABHD10 39 83224 4.68615E-4 41612 0 8.59708E-4
3-111710287-G-C p.Val214Leu missense ABHD10 26 83248 3.1232E-4 41624 0 3.1835E-4
3-111710291-A-G p.Tyr215Cys missense ABHD10 1 83272 1.20088E-5 41636 0 6.25E-4
3-111710296-G-A p.Val217Ile missense ABHD10 2 83278 2.40159E-5 41639 0 0.00100705
3-111710299-C-T p.Gln218* stop_gained ABHD10 2 83292 2.40119E-5 41646 0 3.18512E-5
3-111710300-A-G p.Gln218Arg missense ABHD10 1 83294 1.20057E-5 41647 0 NA
3-111710303-A-G p.Tyr219Cys missense ABHD10 1 83306 1.20039E-5 41653 0 NA
3-111710311-A-G p.Ile222Val missense ABHD10 1 83346 1.19982E-5 41673 0 1.19369E-5
3-111710312-T-C p.Ile222Thr missense ABHD10 2 83348 2.39958E-5 41674 0 7.95874E-6
3-111710319-A-G p.Glu224Glu synonymous ABHD10 1 83354 1.1997E-5 41677 0 3.9801E-6
3-111710324-A-G p.Glu226Gly missense ABHD10 1 83358 1.19964E-5 41679 0 NA
3-111710327-A-G p.His227Arg missense ABHD10 2 83354 2.3994E-5 41677 0 8.23696E-6
3-111710329-C-T p.His228Tyr missense ABHD10 1 83354 1.1997E-5 41677 0 NA
3-111710335-T-C p.Leu230Leu synonymous ABHD10 2 83370 2.39894E-5 41685 0 3.18512E-5
3-111710350-A-G p.Ile235Val missense ABHD10 17 83364 2.03925E-4 41682 0 5.73248E-4
3-111710365-C-G p.Pro240Ala missense ABHD10 1 83370 1.19947E-5 41685 0 NA
3-111710368-A-G p.Ile241Val missense ABHD10 1 83370 1.19947E-5 41685 0 8.23683E-6
3-111710374-T-C p.Leu243Leu synonymous ABHD10 1 83370 1.19947E-5 41685 0 NA
3-111710395-G-A p.Asp250Asn missense ABHD10 2 83352 2.39946E-5 41676 0 6.37064E-4
3-111710398-A-G p.Ile251Val missense ABHD10 4686 83300 0.0562545 41650 173 0.0477539
3-111710402-T-C p.Val252Ala missense ABHD10 1 83354 1.1997E-5 41677 0 NA
3-111710417-C-A p.Ser257* stop_gained ABHD10 1 83362 1.19959E-5 41681 0 NA
3-111710419-A-G p.Met258Val missense ABHD10 2 83362 2.39917E-5 41681 0 8.23683E-6
3-111710421-G-T p.Met258Ile missense ABHD10 2 83364 2.39912E-5 41682 0 1.64737E-5
3-111710430-C-T p.Ala261Ala synonymous ABHD10 3 83358 3.59893E-5 41679 0 1.64739E-5
3-111710431-G-A p.Asp262Asn missense ABHD10 1 83364 1.19956E-5 41682 0 1.64737E-5
3-111710434-C-T p.Arg263* stop_gained ABHD10 1 83358 1.19964E-5 41679 0 NA
3-111710435-G-A p.Arg263Gln missense ABHD10 4 83358 4.79858E-5 41679 0 1.64742E-5
3-111710439-A-G p.Val264Val synonymous ABHD10 1 83354 1.1997E-5 41677 0 NA
3-111710446-A-C p.Thr267Pro missense ABHD10 208 83362 0.00249514 41681 5 0.00375135
3-111710452-G-A p.Val269Met missense ABHD10 1 83362 1.19959E-5 41681 0 7.95665E-6
3-111710468-G-A p.Arg274Gln missense ABHD10 5 83338 5.99966E-5 41669 0 3.18552E-5
3-111710480-A-T p.Asp278Val missense ABHD10 119 83326 0.00142813 41663 0 0.0013758
3-111710486-G-A p.Arg280Gln missense ABHD10 1 83326 1.20011E-5 41663 0 1.19438E-5
3-111710513-T-C p.Leu289Pro missense ABHD10 2 83294 2.40113E-5 41647 0 8.24892E-6
3-111710527-A-G p.Ile294Val missense ABHD10 1 83284 1.20071E-5 41642 0 6.36821E-5
3-111710528-T-C p.Ile294Thr missense ABHD10 2 83286 2.40136E-5 41643 0 5.03525E-4
3-111710532-T-C p.Asp295Asp synonymous ABHD10 197 83258 0.00236614 41629 0 0.0025
3-111710538-A-C p.Leu297Phe missense ABHD10 1 83250 1.2012E-5 41625 0 NA
3-111710546-A-G p.Lys300Arg missense ABHD10 1 83220 1.20163E-5 41610 0 1.19672E-5
3-111710553-A-G p.Ser302Ser synonymous ABHD10 18 83194 2.16362E-4 41597 0 3.21066E-5
3-111710559-A-G p.Ile304Met missense ABHD10 1 83158 1.20253E-5 41579 0 8.05017E-6
3-111710821-A-C c.*719A>C splice_region ABHD10 1 18600 5.37634E-5 9300 0 NA