Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-244572887-AT-A p.Ter457fs frameshift ADSS 1 82518 1.21186E-5 41259 0 NA
1-244572890-A-T p.Ter457Lysext*? stop_lost ADSS 1 82508 1.212E-5 41254 0 NA
1-244572897-T-C p.Gln454Gln synonymous ADSS 11 82494 1.33343E-4 41247 0 3.82214E-4
1-244572899-G-C p.Gln454Glu missense ADSS 2 82492 2.42448E-5 41246 0 NA
1-244572905-T-C p.Met452Val missense ADSS 2 82508 2.42401E-5 41254 0 3.1839E-5
1-244572910-T-G p.Glu450Ala missense ADSS 1 82508 1.212E-5 41254 0 8.30579E-6
1-244572922-C-T p.Gly446Asp missense ADSS 1 82526 1.21174E-5 41263 0 NA
1-244572924-A-G p.Val445Val synonymous ADSS 1 82524 1.21177E-5 41262 0 NA
1-244574596-T-C p.Gln437Gln synonymous ADSS 3 83208 3.60542E-5 41604 0 2.47811E-5
1-244574603-T-G p.Glu435Ala missense ADSS 1 83278 1.2008E-5 41639 0 2.02761E-5
1-244574613-T-C p.Ile432Val missense ADSS 1 83308 1.20036E-5 41654 0 NA
1-244574618-C-T p.Arg430Gln missense ADSS 2 83312 2.40061E-5 41656 0 3.19101E-5
1-244574619-G-A p.Arg430* stop_gained ADSS 1 83316 1.20025E-5 41658 0 NA
1-244574619-G-C p.Arg430Gly missense ADSS 1 83316 1.20025E-5 41658 0 NA
1-244574632-T-C p.Ala425Ala synonymous ADSS 1 83320 1.20019E-5 41660 0 NA
1-244574640-C-A p.Val423Phe missense ADSS 1 83332 1.20002E-5 41666 0 NA
1-244574656-C-T p.Ala417Ala synonymous ADSS 1 83328 1.20008E-5 41664 0 4.37821E-5
1-244574657-G-A p.Ala417Val missense ADSS 25 83326 3.00026E-4 41663 0 0.00100806
1-244574680-G-T p.Asn409Lys missense ADSS 2 83334 2.39998E-5 41667 0 NA
1-244574712-C-G p.Glu399Gln missense ADSS 1 83284 1.20071E-5 41642 0 NA
1-244574716-T-G p.Lys397Asn missense ADSS 1 83280 1.20077E-5 41640 0 1.64948E-5
1-244574746-T-C c.1169-8A>G splice_region ADSS 1 83162 1.20247E-5 41581 0 NA
1-244579298-T-A p.Ile385Leu missense ADSS 1 83170 1.20236E-5 41585 0 6.25E-4
1-244579302-T-A p.Glu383Asp missense ADSS 1 83182 1.20218E-5 41591 0 NA
1-244579304-C-T p.Glu383Lys missense ADSS 1 83182 1.20218E-5 41591 0 NA
1-244579316-T-C p.Lys379Glu missense ADSS 1 83230 1.20149E-5 41615 0 8.28226E-6
1-244579317-G-A p.Tyr378Tyr synonymous ADSS 1 83228 1.20152E-5 41614 0 3.98092E-6
1-244579334-T-C p.Lys373Glu missense ADSS 1 83250 1.2012E-5 41625 0 3.1839E-5
1-244579341-C-T p.Thr370Thr synonymous ADSS 2 83240 2.40269E-5 41620 0 2.22958E-4
1-244579349-T-C p.Met368Val missense ADSS 1 83248 1.20123E-5 41624 0 1.19632E-5
1-244579368-G-T p.Thr361Thr synonymous ADSS 1 83238 1.20137E-5 41619 0 8.3485E-6
1-244579375-G-A p.Ala359Val missense ADSS 1 83228 1.20152E-5 41614 0 NA
1-244579376-C-T p.Ala359Thr missense ADSS 1 83224 1.20158E-5 41612 0 NA
1-244579380-C-CG c.1071-1_1071insC splice_acceptor ADSS 2 83236 2.40281E-5 41618 0 NA
1-244580929-C-G c.1070+1G>C splice_donor ADSS 1 81962 1.22008E-5 40981 0 NA
1-244580933-G-C p.Thr356Ser missense ADSS 2 82022 2.43837E-5 41011 0 NA
1-244580952-G-C p.His350Asp missense ADSS 2 82148 2.43463E-5 41074 0 NA
1-244580952-G-A p.His350Tyr missense ADSS 1 82148 1.21732E-5 41074 0 NA
1-244580956-A-G p.Tyr348Tyr synonymous ADSS 2 82182 2.43362E-5 41091 0 1.19573E-5
1-244580971-G-A p.Leu343Leu synonymous ADSS 1 82260 1.21566E-5 41130 0 4.96122E-5
1-244580986-A-G p.Cys338Cys synonymous ADSS 1 82414 1.21339E-5 41207 0 NA
1-244580989-T-C p.Arg337Arg synonymous ADSS 25 82428 3.03295E-4 41214 0 6.68492E-4
1-244581042-A-G p.Leu320Leu synonymous ADSS 1 82428 1.21318E-5 41214 0 NA
1-244581060-G-C c.946-6C>G splice_region ADSS 2 82232 2.43214E-5 41116 0 2.49933E-5
1-244582054-A-T c.945+8T>A splice_region ADSS 40 82986 4.82009E-4 41493 0 1.59205E-4
1-244582065-G-A p.Asp314Asp synonymous ADSS 1 83176 1.20227E-5 41588 0 NA
1-244582071-C-T p.Glu312Glu synonymous ADSS 4 83186 4.8085E-5 41593 0 3.18431E-5
1-244582094-C-T p.Gly305Ser missense ADSS 2 83238 2.40275E-5 41619 0 3.99163E-6
1-244582097-C-T p.Val304Ile missense ADSS 14 83244 1.6818E-4 41622 0 1.27364E-4
1-244582116-C-T p.Val297Val synonymous ADSS 3 83248 3.60369E-5 41624 0 1.27405E-4
1-244582134-T-G p.Gly291Gly synonymous ADSS 10 83234 1.20143E-4 41617 0 0.001875
1-244582176-T-G p.Gly277Gly synonymous ADSS 1 83172 1.20233E-5 41586 0 3.18634E-5
1-244583495-GC-AT p.Ala256Ile missense ADSS 1 82962 1.20537E-5 41481 0 NA
1-244583511-C-T p.Val251Ile missense ADSS 2 82966 2.41063E-5 41483 0 NA
1-244583560-T-A p.Gly234Gly synonymous ADSS 3 82738 3.6259E-5 41369 0 1.67392E-5
1-244583571-C-T p.Val231Met missense ADSS 1 82650 1.20992E-5 41325 0 NA
1-244583584-C-T p.Lys226Lys synonymous ADSS 1 82492 1.21224E-5 41246 0 1.69615E-5
1-244583585-T-C p.Lys226Arg missense ADSS 1968 82386 0.0238876 41193 22 0.04
1-244583594-T-C p.Tyr223Cys missense ADSS 1 82302 1.21504E-5 41151 0 NA
1-244583606-C-G c.664-8G>C splice_region ADSS 1 81934 1.22049E-5 40967 0 NA
1-244586148-G-C p.Gln218Glu missense ADSS 1 82910 1.20613E-5 41455 0 3.99594E-6
1-244586164-GT-G p.Asp212fs frameshift ADSS 1 82974 1.2052E-5 41487 0 NA
1-244586177-G-A p.Thr208Ile missense ADSS 1 82994 1.20491E-5 41497 0 8.25887E-6
1-244586178-T-A p.Thr208Ser missense ADSS 1 82992 1.20494E-5 41496 0 3.98578E-6
1-244586179-G-C p.Pro207Pro synonymous ADSS 1 82980 1.20511E-5 41490 0 NA
1-244586187-T-C p.Ile205Val missense ADSS 1 82986 1.20502E-5 41493 0 3.98886E-6
1-244586197-T-C p.Gln201Gln synonymous ADSS 1 82928 1.20587E-5 41464 0 3.18471E-5
1-244586222-A-T c.582-4T>A splice_region ADSS 1 82450 1.21286E-5 41225 0 8.28775E-6
1-244587249-A-AC c.581+5_581+6insG splice_region ADSS 1 82452 1.21283E-5 41226 0 3.1841E-5
1-244587272-A-G p.Phe188Phe synonymous ADSS 1 82896 1.20633E-5 41448 0 8.33458E-5
1-244587290-G-A p.Cys182Cys synonymous ADSS 9 83016 1.08413E-4 41508 0 0.00125
1-244587323-C-T p.Ser171Ser synonymous ADSS 7 83082 8.42541E-5 41541 0 1.59793E-5
1-244587323-C-A p.Ser171Ser synonymous ADSS 1 83082 1.20363E-5 41541 0 NA
1-244587338-A-G p.Ile166Ile synonymous ADSS 3 83056 3.61202E-5 41528 0 8.05555E-6
1-244587342-C-T p.Gly165Asp missense ADSS 1 83046 1.20415E-5 41523 0 NA
1-244587343-C-T p.Gly165Ser missense ADSS 1 83052 1.20406E-5 41526 0 NA
1-244587351-G-A p.Thr162Ile missense ADSS 1 83048 1.20412E-5 41524 0 NA
1-244587353-T-C p.Thr161Thr synonymous ADSS 1 83046 1.20415E-5 41523 0 3.18471E-5
1-244587362-A-ATTTTTT c.474-1_474insAAAAAA splice_acceptor ADSS 1 83030 1.20438E-5 41515 0 NA
1-244587362-A-ATTTTTTC c.474-1_474insGAAAAAA splice_acceptor ADSS 1 83032 1.20435E-5 41516 0 NA
1-244587370-A-G c.474-8T>C splice_region ADSS 1 82998 1.20485E-5 41499 0 NA
1-244587627-T-G p.Lys157Gln missense ADSS 1 83114 1.20317E-5 41557 0 NA
1-244587640-T-C p.Gln152Gln synonymous ADSS 2 83136 2.4057E-5 41568 0 3.98232E-5
1-244587692-G-A c.407-3C>T splice_region ADSS 1 83036 1.2043E-5 41518 0 NA
1-244587697-G-A c.407-8C>T splice_region ADSS 7 82996 8.43414E-5 41498 0 1.82797E-4
1-244595888-C-T p.Gly122Asp missense ADSS 1 82542 1.2115E-5 41271 0 8.2883E-6
1-244595896-T-C p.Gly119Gly splice_region+synonymous ADSS 1 82450 1.21286E-5 41225 0 NA
1-244595901-G-C c.356-4C>G splice_region ADSS 2 82304 2.43002E-5 41152 0 6.65203E-5
1-244595903-A-C c.356-6T>G splice_region ADSS 1 82368 1.21406E-5 41184 0 3.20533E-5
1-244595904-A-T c.356-7T>A splice_region ADSS 2 82322 2.42948E-5 41161 0 9.20175E-6
1-244595905-G-A c.356-8C>T splice_region ADSS 1 82256 1.21572E-5 41128 0 8.3221E-6
1-244600133-C-CT p.Gly117fs frameshift ADSS 1 83108 1.20325E-5 41554 0 NA
1-244600961-T-C c.286+7A>G splice_region ADSS 2 82202 2.43303E-5 41101 0 NA
1-244600965-TA-T c.286+2delT splice_donor ADSS 2 82306 2.42996E-5 41153 0 NA
1-244600967-C-T c.286+1G>A splice_donor ADSS 2 82364 2.42825E-5 41182 0 NA
1-244600970-A-G p.Ile95Thr missense+splice_region ADSS 1 82480 1.21242E-5 41240 0 NA
1-244601011-G-A p.Leu81Leu synonymous ADSS 3 83096 3.61028E-5 41548 0 NA
1-244601020-A-C p.Asp78Glu missense ADSS 5 83108 6.01627E-5 41554 0 6.37064E-5
1-244601054-C-T p.Gly67Asp missense ADSS 2 83052 2.40813E-5 41526 0 7.96324E-6
1-244601072-T-TGGCAGCGGCACACGATGTCGGCGTCCTGCGCCAGCAGGTCC c.184-3_184-2insGGACCTGCTGGCGCAGGACGCCGACATCGTGTGCCGCTGCC splice_region ADSS 2 82916 2.41208E-5 41458 1 NA
1-244601076-ATG-A c.184-8_184-7delCA splice_region ADSS 1 82848 1.20703E-5 41424 0 NA
1-244614930-G-A c.183+7C>T splice_region ADSS 1 79422 1.2591E-5 39711 0 7.22787E-5
1-244614931-C-T c.183+6G>A splice_region ADSS 12 79572 1.50807E-4 39786 0 6.25E-4
1-244614968-G-C p.Ala51Gly missense ADSS 1 81120 1.23274E-5 40560 0 NA
1-244614984-C-T p.Val46Met missense ADSS 1 81408 1.22838E-5 40704 0 4.05003E-6
1-244614985-C-T p.Lys45Lys synonymous ADSS 1 81432 1.22802E-5 40716 0 3.18918E-5
1-244615027-C-G p.Thr31Thr synonymous ADSS 1 80966 1.23509E-5 40483 0 NA
1-244615029-T-A p.Thr31Ser missense ADSS 2 80848 2.47378E-5 40424 0 NA
1-244615036-G-A p.Asn28Asn synonymous ADSS 1 80776 1.23799E-5 40388 0 NA
1-244615039-T-C p.Gly27Gly synonymous ADSS 2 80700 2.47831E-5 40350 0 4.27223E-6
1-244615042-T-C p.Gly26Gly synonymous ADSS 4 80612 4.96204E-5 40306 0 5.0813E-4
1-244615048-C-G p.Arg24Arg synonymous ADSS 1 80352 1.24452E-5 40176 0 NA
1-244615060-G-T p.Arg20Arg synonymous ADSS 1 80088 1.24863E-5 40044 0 NA
1-244615071-C-T p.Asp17Asn missense ADSS 2 80076 2.49763E-5 40038 0 9.61662E-5
1-244615094-G-C p.Ala9Gly missense ADSS 1 79910 1.25141E-5 39955 0 NA
1-244615096-C-T p.Pro8Pro synonymous ADSS 1 79884 1.25182E-5 39942 0 0.00102564
1-244615101-A-C p.Tyr7Asp missense ADSS 3 79874 3.75592E-5 39937 0 5.1282E-4
1-244615110-C-T p.Ala4Thr missense ADSS 1 79570 1.25676E-5 39785 0 4.82998E-6
1-244615114-C-T p.Ala2Ala synonymous ADSS 1 79526 1.25745E-5 39763 0 NA
1-244615163-G-A c.-44C>T 5_prime_UTR_premature_start_codon_gain ADSS 6 76460 7.84724E-5 38230 0 3.1955E-5
1-244615174-G-A c.-55C>T 5_prime_UTR_premature_start_codon_gain ADSS 4 74816 5.34645E-5 37408 0 2.23785E-4
1-244615205-T-G c.-86A>C 5_prime_UTR_premature_start_codon_gain ADSS 5 70584 7.08376E-5 35292 0 3.2002E-5
1-244615209-G-A c.-90C>T 5_prime_UTR_premature_start_codon_gain ADSS 2 69660 2.87109E-5 34830 0 3.19468E-5
1-244615315-T-A c.-196A>T 5_prime_UTR_premature_start_codon_gain ADSS 1 26182 3.81942E-5 13091 0 NA
1-244615348-C-A c.-229G>T 5_prime_UTR_premature_start_codon_gain ADSS 1 15410 6.48929E-5 7705 0 NA
1-244615392-G-A c.-273C>T 5_prime_UTR_premature_start_codon_gain ADSS 1 8142 1.2282E-4 4071 0 NA