Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-80987693-C-T c.-78C>T 5_prime_UTR_premature_start_codon_gain ABHD17C 3 24216 1.23885E-4 12108 0 NA
15-80987701-C-T c.-70C>T 5_prime_UTR_premature_start_codon_gain ABHD17C 2 25396 7.87526E-5 12698 0 NA
15-80987812-T-C p.Gly14Gly synonymous ABHD17C 38951 39294 0.991271 19647 19336 1.0
15-80987812-T-A p.Gly14Gly synonymous ABHD17C 5 39838 1.25508E-4 19919 0 2.6298E-4
15-80987830-C-T p.Phe20Phe synonymous ABHD17C 1 40900 2.44499E-5 20450 0 NA
15-80987898-C-A p.Thr43Lys missense ABHD17C 1 36652 2.72836E-5 18326 0 NA
15-80987930-G-A p.Ala54Thr missense ABHD17C 1 27964 3.57603E-5 13982 0 NA
15-80987935-CGCCCCG-C p.Pro59_Ala60del disruptive_inframe_deletion ABHD17C 1 28280 3.53607E-5 14140 0 3.93515E-5
15-80987940-C-G p.Pro57Arg missense ABHD17C 1 28866 3.46428E-5 14433 0 8.19672E-4
15-80987941-G-A p.Pro57Pro synonymous ABHD17C 1 28880 3.4626E-5 14440 0 4.85909E-4
15-80987945-C-T p.Pro59Ser missense ABHD17C 3 29444 1.01888E-4 14722 0 3.12427E-4
15-80987949-C-T p.Ala60Val missense ABHD17C 1 29748 3.36157E-5 14874 0 NA
15-80987957-ACCG-A p.Ala68del disruptive_inframe_deletion ABHD17C 12 30344 3.95465E-4 15172 0 0.00299401
15-80987957-A-ACCG p.Ala68dup disruptive_inframe_insertion ABHD17C 2 30636 6.52827E-5 15318 0 NA
15-80987965-C-T p.Ala65Ala synonymous ABHD17C 1 31488 3.17581E-5 15744 0 NA
15-80987968-C-T p.Ala66Ala synonymous ABHD17C 22 31992 6.87672E-4 15996 0 0.015625
15-80987971-C-T p.Ala67Ala synonymous ABHD17C 1 32580 3.06937E-5 16290 0 NA
15-80987974-G-T p.Ala68Ala synonymous ABHD17C 1 32958 3.03416E-5 16479 0 NA
15-80987974-G-A p.Ala68Ala synonymous ABHD17C 1 32958 3.03416E-5 16479 0 NA
15-80987983-G-T p.Pro71Pro synonymous ABHD17C 1 38386 2.60512E-5 19193 0 NA
15-80987987-C-T p.Pro73Ser missense ABHD17C 1 40752 2.45387E-5 20376 0 3.72634E-5
15-80988003-A-AGGGCGC p.Gly83_Pro84insAlaGly disruptive_inframe_insertion ABHD17C 39 46340 8.41606E-4 23170 1 0.00145349
15-80988014-G-T p.Ala82Ser missense ABHD17C 1 48896 2.04516E-5 24448 0 3.52063E-5
15-80988019-G-T p.Gly83Gly synonymous ABHD17C 1 51328 1.94825E-5 25664 0 NA
15-80988022-C-T p.Pro84Pro synonymous ABHD17C 2 52928 3.77872E-5 26464 0 0.00147244
15-80988046-C-T p.Ser92Ser synonymous ABHD17C 1 63234 1.58143E-5 31617 0 NA
15-80988064-G-A p.Gln98Gln synonymous ABHD17C 3 69406 4.32239E-5 34703 0 2.25425E-4
15-80988080-C-T p.Leu104Leu synonymous ABHD17C 2 72644 2.75315E-5 36322 0 2.95064E-5
15-80988088-C-G p.Ala106Ala synonymous ABHD17C 3 74050 4.05132E-5 37025 0 7.2758E-6
15-80988094-G-A p.Glu108Glu synonymous ABHD17C 2 75334 2.65484E-5 37667 0 3.2144E-5
15-80988097-C-T p.Val109Val synonymous ABHD17C 3 75796 3.95799E-5 37898 0 1.60555E-4
15-80988118-G-A p.Arg116Arg synonymous ABHD17C 2 77562 2.57858E-5 38781 0 NA
15-80988131-G-A p.Gly121Ser missense ABHD17C 1 76258 1.31134E-5 38129 0 NA
15-80988151-C-T p.Cys127Cys synonymous ABHD17C 1 76400 1.3089E-5 38200 0 NA
15-80988155-C-T p.Pro129Ser missense ABHD17C 1 76982 1.299E-5 38491 0 NA
15-80988181-C-T p.Phe137Phe synonymous ABHD17C 3 78534 3.82E-5 39267 0 2.09969E-5
15-80988196-C-A p.Ala142Ala synonymous ABHD17C 1 78928 1.26698E-5 39464 0 NA
15-80988203-C-T p.Leu145Leu synonymous ABHD17C 1 79176 1.26301E-5 39588 0 3.18979E-5
15-80988208-C-T p.Gly146Gly synonymous ABHD17C 1 79320 1.26072E-5 39660 0 NA
15-80988227-A-G p.Ile153Val missense ABHD17C 3 79792 3.75978E-5 39896 0 NA
15-80988249-A-G p.Asn160Ser missense ABHD17C 1 80038 1.24941E-5 40019 0 1.21462E-5
15-80988256-C-T p.Asn162Asn synonymous ABHD17C 2 80174 2.49457E-5 40087 0 1.94808E-4
15-80988277-G-C p.Ser169Ser synonymous ABHD17C 1 80290 1.24549E-5 40145 0 NA
15-80988295-G-C p.Ser175Ser synonymous ABHD17C 1 80300 1.24533E-5 40150 0 NA
15-80988300-A-G p.Lys177Arg missense ABHD17C 2 80330 2.48973E-5 40165 0 NA
15-80988325-C-T p.Ala185Ala synonymous ABHD17C 1 80064 1.249E-5 40032 0 6.25E-4
15-80988355-C-T p.Arg195Arg synonymous ABHD17C 1 78744 1.26994E-5 39372 0 NA
15-80988356-A-T p.Thr196Ser missense ABHD17C 4 78532 5.09347E-5 39266 0 1.70209E-5
15-80988359-C-A p.Arg197Arg splice_region+synonymous ABHD17C 1 78616 1.27201E-5 39308 0 NA
15-81041854-G-C p.Arg197Arg splice_region+synonymous ABHD17C 1 82284 1.2153E-5 41142 0 NA
15-81041860-C-T p.Gly199Gly synonymous ABHD17C 2 82326 2.42937E-5 41163 0 3.18471E-5
15-81041865-G-A p.Ser201Asn missense ABHD17C 1 82390 1.21374E-5 41195 0 NA
15-81041869-C-T c.-100C>T 5_prime_UTR_premature_start_codon_gain ABHD17C 136 82406 0.00165037 41203 0 0.00302567
15-81041875-C-T p.Asn204Asn synonymous ABHD17C 1 82458 1.21274E-5 41229 0 3.18431E-5
15-81041921-T-C c.-48T>C 5_prime_UTR_premature_start_codon_gain ABHD17C 1 82582 1.21092E-5 41291 0 3.18471E-5
15-81041929-G-A p.Ser222Ser splice_region+synonymous ABHD17C 4 82570 4.84437E-5 41285 0 3.18613E-5
15-81041941-C-T p.Cys226Cys synonymous ABHD17C 3 82578 3.63293E-5 41289 0 4.97191E-5
15-81041945-G-A p.Ala228Thr missense ABHD17C 1 82570 1.21109E-5 41285 0 4.01419E-6
15-81041947-G-A p.Ala228Ala synonymous ABHD17C 213 82568 0.00257969 41284 0 0.00449216
15-81041971-G-A p.Met1? start_lost ABHD17C 1 82566 1.21115E-5 41283 0 NA
15-81042007-A-G p.Lys248Lys synonymous ABHD17C 1 82528 1.21171E-5 41264 0 4.01552E-6
15-81042013-C-T p.Tyr250Tyr synonymous ABHD17C 6 82532 7.26991E-5 41266 0 3.50318E-4
15-81042025-T-A p.Ala254Ala synonymous ABHD17C 7 82502 8.48464E-5 41251 0 6.37064E-5
15-81046504-A-C p.Ile261Ile synonymous ABHD17C 1 82426 1.21321E-5 41213 0 8.30137E-6
15-81046525-G-T p.Val268Val synonymous ABHD17C 1 82448 1.21289E-5 41224 0 3.18512E-5
15-81046528-G-A p.Leu269Leu synonymous ABHD17C 1 82452 1.21283E-5 41226 0 NA
15-81046534-T-C p.Ile271Ile synonymous ABHD17C 1 82448 1.21289E-5 41224 0 NA
15-81046558-C-T p.Ile279Ile synonymous ABHD17C 1 82418 1.21333E-5 41209 0 NA
15-81046559-G-A p.Asp280Asn missense ABHD17C 1 82414 1.21339E-5 41207 0 8.28954E-6
15-81046585-C-T p.Tyr288Tyr synonymous ABHD17C 2 82340 2.42895E-5 41170 0 8.2938E-6
15-81046586-G-A p.Glu289Lys missense ABHD17C 2 82336 2.42907E-5 41168 0 3.18451E-5
15-81046590-G-A p.Arg290His missense ABHD17C 2 82320 2.42954E-5 41160 0 3.3184E-5
15-81046603-C-T p.Ala294Ala synonymous ABHD17C 1 82332 1.21459E-5 41166 0 3.18451E-5
15-81046612-C-A p.Pro297Pro synonymous ABHD17C 1 82336 1.21454E-5 41168 0 NA
15-81046639-T-A p.Asn306Lys missense ABHD17C 1 82348 1.21436E-5 41174 0 NA
15-81046642-C-T p.Asp307Asp synonymous ABHD17C 1 82368 1.21406E-5 41184 0 NA
15-81046648-G-A p.Glu309Glu synonymous ABHD17C 9 82392 1.09234E-4 41196 0 6.05018E-4
15-81046681-G-T p.Gln320His missense ABHD17C 2 82348 2.42872E-5 41174 0 NA
15-81046689-C-T p.Ser323Phe missense ABHD17C 2 82338 2.42901E-5 41169 0 1.21101E-5
15-81046693-C-T p.His324His synonymous ABHD17C 118 82296 0.00143385 41148 0 0.00136899
15-81046703-A-G p.Asn328Asp missense ABHD17C 1 82222 1.21622E-5 41111 0 1.02212E-5
15-81046859-C-T c.*148C>T splice_region ABHD17C 1 57820 1.72951E-5 28910 0 9.55475E-5
15-81046860-A-G c.*149A>G splice_region ABHD17C 2 57522 3.47693E-5 28761 0 NA