Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-34998775-A-T c.*45+4T>A splice_region AGXT2 1 80024 1.24963E-5 40012 0 4.08197E-6
5-34998778-C-A c.*45+1G>T splice_donor AGXT2 34231 74714 0.45816 37357 7539 0.60375
5-34998865-G-A p.Arg502Cys missense AGXT2 11 82932 1.32639E-4 41466 0 1.27372E-4
5-34998872-T-C p.Glu499Glu synonymous AGXT2 4 82978 4.82055E-5 41489 0 3.1837E-5
5-34998876-A-G p.Val498Ala missense AGXT2 1 82988 1.20499E-5 41494 0 8.23845E-6
5-34998877-C-A p.Val498Leu missense AGXT2 17451 82616 0.21123 41308 2066 0.2925
5-34998888-A-G p.Val494Ala missense AGXT2 1 82988 1.20499E-5 41494 0 NA
5-34998894-G-C p.Pro492Arg missense AGXT2 4871 82866 0.0587816 41433 192 0.1125
5-34998904-T-C p.Ile489Val missense AGXT2 2 82990 2.40993E-5 41495 0 1.27348E-4
5-34998912-G-A p.Ser486Leu missense AGXT2 6 82946 7.23362E-5 41473 0 9.55049E-5
5-34998917-C-T p.Ala484Ala synonymous AGXT2 5 82890 6.03209E-5 41445 0 2.22873E-4
5-34998918-G-A p.Ala484Val missense AGXT2 4 82918 4.82404E-5 41459 0 1.59205E-4
5-34998920-A-C p.Ile483Met missense AGXT2 1 82928 1.20587E-5 41464 0 NA
5-34998920-A-G p.Ile483Ile synonymous AGXT2 1 82928 1.20587E-5 41464 0 NA
5-34998924-C-T p.Arg482His missense AGXT2 1 82866 1.20677E-5 41433 0 1.65308E-5
5-34998925-G-A p.Arg482Cys missense AGXT2 9 82882 1.08588E-4 41441 0 5.03525E-4
5-34998936-G-A c.1438-5C>T splice_region AGXT2 4 82674 4.83828E-5 41337 0 NA
5-35003863-C-T c.1437+5G>A splice_region AGXT2 2 82838 2.41435E-5 41419 0 NA
5-35003866-A-T c.1437+2T>A splice_donor AGXT2 1 82880 1.20656E-5 41440 0 3.97823E-6
5-35003887-C-T p.Arg473Lys missense AGXT2 2 83066 2.40772E-5 41533 0 NA
5-35003889-G-T p.Gly472Gly synonymous AGXT2 44 83080 5.2961E-4 41540 0 0.00100705
5-35003890-C-G p.Gly472Ala missense AGXT2 3 83080 3.61098E-5 41540 0 3.18573E-5
5-35003898-G-A p.Leu469Leu synonymous AGXT2 2 83096 2.40685E-5 41548 0 8.23737E-6
5-35003923-T-A p.His461Leu missense AGXT2 3 83084 3.6108E-5 41542 0 NA
5-35003925-G-A p.Ile460Ile synonymous AGXT2 1 83100 1.20337E-5 41550 0 NA
5-35003931-A-C p.Asn458Lys missense AGXT2 17 83072 2.04642E-4 41536 0 3.18918E-5
5-35003945-G-A p.Arg454Cys missense AGXT2 1 82992 1.20494E-5 41496 0 NA
5-35003950-A-G p.Leu452Pro missense AGXT2 1 82970 1.20525E-5 41485 0 NA
5-35003956-C-G p.Arg450Pro missense AGXT2 1 82892 1.20639E-5 41446 0 3.97899E-6
5-35003961-G-A p.Ser448Ser synonymous AGXT2 1 82838 1.20718E-5 41419 0 8.26733E-6
5-35003974-T-C c.1339-8A>G splice_region AGXT2 2 82398 2.42724E-5 41199 0 2.51686E-5
5-35010110-C-T p.Asp445Asn missense AGXT2 1 83246 1.20126E-5 41623 0 8.23737E-6
5-35010111-C-T p.Gln444Gln synonymous AGXT2 1 83258 1.20109E-5 41629 0 2.38688E-5
5-35010114-C-A p.Val443Val synonymous AGXT2 1 83252 1.20117E-5 41626 0 NA
5-35010115-A-T p.Val443Glu missense AGXT2 2 83258 2.40217E-5 41629 0 8.23696E-6
5-35010117-C-A p.Met442Ile missense AGXT2 1 83262 1.20103E-5 41631 0 3.29489E-5
5-35010124-A-G p.Ile440Thr missense AGXT2 1 83276 1.20083E-5 41638 0 2.47113E-5
5-35010130-A-G p.Ile438Thr missense AGXT2 4 83278 4.80319E-5 41639 0 1.59128E-5
5-35010135-G-A p.Leu436Leu synonymous AGXT2 3 83274 3.60256E-5 41637 0 8.2371E-6
5-35010138-A-G p.Gly435Gly synonymous AGXT2 79989 82216 0.972913 41108 38994 0.975625
5-35010139-C-A p.Gly435Val missense AGXT2 4 83264 4.804E-5 41632 0 NA
5-35010147-T-C p.Arg432Arg synonymous AGXT2 2 83280 2.40154E-5 41640 0 3.29478E-5
5-35010148-C-T p.Arg432Gln missense AGXT2 1 83282 1.20074E-5 41641 0 4.11848E-5
5-35010149-G-A p.Arg432* stop_gained AGXT2 1 83286 1.20068E-5 41643 0 3.97848E-6
5-35010152-C-T p.Val431Ile missense AGXT2 17 83282 2.04126E-4 41641 0 3.82117E-4
5-35010160-A-G p.Val428Ala missense AGXT2 7 83290 8.40437E-5 41645 0 1.43209E-4
5-35010172-T-A p.Glu424Val missense AGXT2 5 83296 6.00269E-5 41648 0 2.22902E-4
5-35010174-A-C p.Asp423Glu missense AGXT2 50 83294 6.00283E-4 41647 2 0.005625
5-35010178-C-T p.Arg422Gln missense AGXT2 1 83288 1.20065E-5 41644 0 NA
5-35010179-G-T p.Arg422Arg synonymous AGXT2 28 83286 3.36191E-4 41643 0 3.38185E-4
5-35010195-T-C p.Leu416Leu synonymous AGXT2 1 83296 1.20054E-5 41648 0 8.23683E-6
5-35010196-A-G p.Leu416Pro missense AGXT2 2 83288 2.40131E-5 41644 0 8.23683E-6
5-35010203-T-A p.Met414Leu missense AGXT2 1 83284 1.20071E-5 41642 0 NA
5-35010211-C-A p.Gly411Val missense AGXT2 6 83260 7.20634E-5 41630 0 9.55292E-5
5-35010215-C-A p.Val410Phe missense AGXT2 1 83258 1.20109E-5 41629 0 NA
5-35010215-C-T p.Val410Ile missense AGXT2 3 83258 3.60326E-5 41629 0 8.23683E-6
5-35010225-G-GT p.Asn406fs frameshift AGXT2 2 83228 2.40304E-5 41614 0 1.2738E-4
5-35010225-G-C p.Asn406Lys missense AGXT2 1 83228 1.20152E-5 41614 0 1.19371E-5
5-35010233-G-A p.Gln404* stop_gained AGXT2 10 83192 1.20204E-4 41596 1 0.0020141
5-35010254-C-A p.Val397Leu missense+splice_region AGXT2 16 83038 1.92683E-4 41519 0 3.50274E-4
5-35010255-C-T c.1189-1G>A splice_acceptor AGXT2 1 83036 1.2043E-5 41518 0 3.1839E-5
5-35013058-C-T c.1188+1G>A splice_donor AGXT2 910 81296 0.0111937 40648 10 0.019375
5-35013089-C-G p.Met386Ile missense AGXT2 1 81336 1.22947E-5 40668 0 0.00125
5-35013091-TG-T p.Met386fs frameshift AGXT2 1 81352 1.22923E-5 40676 0 6.39239E-6
5-35013099-C-T p.Gly383Glu missense AGXT2 1 81350 1.22926E-5 40675 0 6.39296E-6
5-35013104-A-C p.Phe381Leu missense AGXT2 1 81348 1.22929E-5 40674 0 NA
5-35013117-T-G p.His377Pro missense AGXT2 4 81312 4.91932E-5 40656 0 3.18329E-5
5-35013120-T-G p.Gln376Pro missense AGXT2 1 81302 1.22998E-5 40651 0 NA
5-35013122-C-T p.Leu375Leu synonymous AGXT2 1 81300 1.23001E-5 40650 0 NA
5-35013131-C-T p.Ala372Ala synonymous AGXT2 1 81294 1.2301E-5 40647 0 1.91882E-5
5-35013132-G-A p.Ala372Val missense AGXT2 1 81292 1.23013E-5 40646 0 1.27923E-5
5-35013154-G-C c.1097-4C>G splice_region AGXT2 2 81256 2.46136E-5 40628 0 1.27941E-5
5-35013155-A-C c.1097-5T>G splice_region AGXT2 1 81262 1.23059E-5 40631 0 NA
5-35014099-G-A p.Thr363Thr synonymous AGXT2 1 83262 1.20103E-5 41631 0 NA
5-35014100-G-T p.Thr363Asn missense AGXT2 1 83262 1.20103E-5 41631 0 NA
5-35014107-C-T p.Val361Ile missense AGXT2 1 83276 1.20083E-5 41638 0 1.64742E-5
5-35014108-T-C p.Ala360Ala synonymous AGXT2 5 83284 6.00355E-5 41642 0 1.59276E-4
5-35014109-G-A p.Ala360Val missense AGXT2 8 83284 9.60569E-5 41642 0 2.47113E-5
5-35014113-C-T p.Ala359Thr missense AGXT2 1 83292 1.2006E-5 41646 0 4.94218E-5
5-35014118-G-A p.Pro357Leu missense AGXT2 1 83302 1.20045E-5 41651 0 NA
5-35014129-C-T p.Gly353Gly synonymous AGXT2 2 83332 2.40004E-5 41666 0 6.25E-4
5-35014135-C-A p.Gly351Gly synonymous AGXT2 3 83338 3.5998E-5 41669 0 8.23723E-5
5-35014144-C-T p.Met348Ile missense AGXT2 3 83344 3.59954E-5 41672 0 2.38631E-5
5-35014146-T-C p.Met348Val missense AGXT2 1 83344 1.19985E-5 41672 0 NA
5-35014148-G-T p.Thr347Asn missense AGXT2 4 83344 4.79939E-5 41672 0 3.18634E-5
5-35014168-A-G p.Asp340Asp synonymous AGXT2 13 83364 1.55943E-4 41682 0 1.59256E-4
5-35014171-G-A p.His339His synonymous AGXT2 214 83356 0.0025673 41678 0 0.00255371
5-35014174-G-T p.Thr338Thr synonymous AGXT2 2 83354 2.3994E-5 41677 0 NA
5-35014175-G-T p.Thr338Asn missense AGXT2 4 83356 4.79869E-5 41678 0 6.37267E-5
5-35014184-C-A p.Gly335Val missense AGXT2 1 83360 1.19962E-5 41680 0 NA
5-35014188-A-G p.Trp334Arg missense AGXT2 1 83364 1.19956E-5 41682 0 2.47162E-5
5-35014194-G-A p.His332Tyr missense AGXT2 1 83364 1.19956E-5 41682 0 NA
5-35014196-G-C p.Ser331Cys missense AGXT2 2 83362 2.39917E-5 41681 0 3.18715E-5
5-35014203-A-C p.Leu329Val missense AGXT2 1 83354 1.1997E-5 41677 0 NA
5-35014208-C-A p.Gly327Val missense AGXT2 3 83356 3.59902E-5 41678 0 1.64788E-5
5-35014209-C-T p.Gly327Arg missense AGXT2 2 83352 2.39946E-5 41676 0 2.47186E-5
5-35014218-T-C p.Thr324Ala missense AGXT2 2 83350 2.39952E-5 41675 0 NA
5-35014219-C-T p.Gln323Gln synonymous AGXT2 139 83346 0.00166775 41673 2 0.00385793
5-35014222-C-T p.Val322Val splice_region+synonymous AGXT2 14 83332 1.68003E-4 41666 0 4.14567E-4
5-35014231-A-G c.964-7T>C splice_region AGXT2 3 83298 3.60153E-5 41649 0 8.24035E-6
5-35025863-C-G c.963+5G>C splice_region AGXT2 1 83154 1.20259E-5 41577 0 8.26064E-6
5-35025865-T-C c.963+3A>G splice_region AGXT2 5 83146 6.01352E-5 41573 0 8.25832E-6
5-35025871-A-G p.Asp320Asp synonymous AGXT2 5 83168 6.01193E-5 41584 0 1.19333E-5
5-35025874-T-C p.Ala319Ala synonymous AGXT2 2 83196 2.40396E-5 41598 0 9.55475E-5
5-35025885-C-T p.Val316Met missense AGXT2 3 83216 3.60508E-5 41608 0 4.12303E-5
5-35025886-G-A p.Gly315Gly synonymous AGXT2 1 83202 1.20189E-5 41601 0 6.25E-4
5-35025888-C-T p.Gly315Ser missense AGXT2 2 83230 2.40298E-5 41615 0 3.18431E-5
5-35025891-C-G p.Gly314Arg missense AGXT2 1 83236 1.2014E-5 41618 0 NA
5-35025899-C-T p.Arg311Gln missense AGXT2 11 83242 1.32145E-4 41621 0 2.54777E-4
5-35025900-G-A p.Arg311* stop_gained AGXT2 4 83238 4.8055E-5 41619 0 6.25E-4
5-35025903-C-T p.Val310Met missense AGXT2 1 83240 1.20135E-5 41620 0 NA
5-35025911-A-G p.Phe307Ser missense AGXT2 2 83248 2.40246E-5 41624 0 NA
5-35025914-G-C p.Ala306Gly missense AGXT2 1 83244 1.20129E-5 41622 0 6.37024E-5
5-35025943-G-C p.Val296Val synonymous AGXT2 13 83204 1.56242E-4 41602 0 4.14092E-4
5-35025964-C-CA c.871-5dupT splice_region AGXT2 1 83104 1.20331E-5 41552 0 NA
5-35026522-G-T p.Pro288His missense AGXT2 2 82654 2.41973E-5 41327 0 NA
5-35026530-G-A p.Phe285Phe synonymous AGXT2 2 82736 2.41733E-5 41368 0 6.38244E-5
5-35026536-T-A p.Gly283Gly synonymous AGXT2 2 82822 2.41482E-5 41411 0 3.30077E-5
5-35026552-G-A p.Ala278Val missense AGXT2 4 82914 4.82428E-5 41457 0 3.98105E-6
5-35026561-G-A p.Thr275Ile missense AGXT2 2 82910 2.41225E-5 41455 0 1.59242E-5
5-35026569-C-T p.Thr272Thr synonymous AGXT2 1 82858 1.20688E-5 41429 0 8.25982E-6
5-35026570-G-C p.Thr272Arg missense AGXT2 1 82850 1.207E-5 41425 0 4.95655E-5
5-35026570-G-GT p.Thr272fs frameshift AGXT2 1 82850 1.207E-5 41425 0 3.98178E-6
5-35026570-G-T p.Thr272Lys missense AGXT2 1 82850 1.207E-5 41425 0 NA
5-35026582-T-C p.Gln268Arg missense AGXT2 1 82772 1.20814E-5 41386 0 1.5929E-5
5-35026594-T-C p.Gln264Arg missense AGXT2 1 82626 1.21027E-5 41313 0 3.19122E-5
5-35026605-T-C p.Gln260Gln synonymous AGXT2 2 82394 2.42736E-5 41197 0 1.59469E-4
5-35026609-C-A p.Cys259Phe missense AGXT2 3 82260 3.64697E-5 41130 0 4.38729E-5
5-35032832-C-T c.769+5G>A splice_region AGXT2 6 81984 7.3185E-5 40992 0 6.25E-4
5-35032833-G-A c.769+4C>T splice_region AGXT2 1 81996 1.21957E-5 40998 0 6.5272E-5
5-35032834-G-T c.769+3C>A splice_region AGXT2 1 82044 1.21886E-5 41022 0 NA
5-35032840-G-A p.Pro256Ser missense AGXT2 2 82130 2.43516E-5 41065 0 1.8004E-4
5-35032867-G-A p.Gln247* stop_gained AGXT2 1 82290 1.21521E-5 41145 0 3.76544E-5
5-35032870-C-A p.Val246Leu missense AGXT2 7 82318 8.50361E-5 41159 0 1.37253E-4
5-35032872-G-A p.Pro245Leu missense AGXT2 1 82344 1.21442E-5 41172 0 NA
5-35032880-T-A p.Arg242Arg synonymous AGXT2 1 82368 1.21406E-5 41184 0 NA
5-35032881-C-T p.Arg242Gln missense AGXT2 267 82364 0.00324171 41182 3 0.00694577
5-35032881-C-A p.Arg242Leu missense AGXT2 1 82370 1.21403E-5 41185 0 NA
5-35032882-G-A p.Arg242* stop_gained AGXT2 3 82354 3.64281E-5 41177 0 1.23962E-5
5-35032882-G-C p.Arg242Gly missense AGXT2 1 82354 1.21427E-5 41177 0 1.23962E-5
5-35032890-C-T p.Ser239Asn missense AGXT2 1 82344 1.21442E-5 41172 0 NA
5-35032894-C-T p.Gly238Arg missense AGXT2 1 82290 1.21521E-5 41145 0 NA
5-35032896-C-A p.Gly237Val missense AGXT2 1 82298 1.2151E-5 41149 0 NA
5-35032902-G-C p.Pro235Arg missense AGXT2 1 82282 1.21533E-5 41141 0 1.34989E-5
5-35032903-G-A p.Pro235Ser missense AGXT2 1 82268 1.21554E-5 41134 0 NA
5-35032906-C-A p.Gly234Cys missense AGXT2 4 82270 4.86204E-5 41135 0 NA
5-35032907-A-G p.Arg233Arg synonymous AGXT2 2 82252 2.43155E-5 41126 0 8.37514E-6
5-35032908-C-T p.Arg233His missense AGXT2 2 82220 2.4325E-5 41110 0 0.00100705
5-35032909-G-GA p.Arg233fs frameshift AGXT2 1 82208 1.21643E-5 41104 0 NA
5-35032915-C-T p.Val231Ile missense AGXT2 7 82218 8.51395E-5 41109 0 1.70291E-5
5-35032920-G-A p.Pro229Leu missense AGXT2 6 82202 7.29909E-5 41101 2 0.00201613
5-35032923-C-T p.Cys228Tyr missense AGXT2 2 82182 2.43362E-5 41091 0 6.03409E-5
5-35032929-G-T p.Thr226Lys missense+splice_region AGXT2 1 82116 1.21779E-5 41058 0 NA
5-35032933-G-T c.676-3C>A splice_region AGXT2 1 82060 1.21862E-5 41030 0 4.43636E-6
5-35033579-T-C p.Thr221Ala missense AGXT2 4 82762 4.83314E-5 41381 0 0.00100705
5-35033586-A-T p.Pro218Pro synonymous AGXT2 2 82776 2.41616E-5 41388 0 NA
5-35033591-G-A p.Leu217Phe missense AGXT2 1 82790 1.20788E-5 41395 0 3.18451E-5
5-35033592-T-C p.Glu216Glu synonymous AGXT2 5 82766 6.04113E-5 41383 0 1.27478E-4
5-35033594-C-T p.Glu216Lys missense AGXT2 26 82778 3.14093E-4 41389 1 NA
5-35033605-G-A p.Thr212Ile missense AGXT2 79736 82590 0.965444 41295 38633 0.9725
5-35033617-G-A p.Thr208Ile missense AGXT2 1 82808 1.20761E-5 41404 0 3.97931E-6
5-35033626-A-C p.Leu205Arg missense AGXT2 1 82802 1.2077E-5 41401 0 3.18451E-5
5-35033631-G-A p.Tyr203Tyr synonymous AGXT2 408 82786 0.00492837 41393 12 0.00999618
5-35033636-G-T p.Pro202Thr missense AGXT2 1 82784 1.20796E-5 41392 0 1.98975E-5
5-35033651-A-G p.Tyr197His missense AGXT2 1 82708 1.20907E-5 41354 0 3.18593E-5
5-35033659-CT-TC c.582-2_582-1delAGinsGA splice_acceptor AGXT2 1 82646 1.20998E-5 41323 0 NA
5-35035328-T-C p.Arg194Gly missense+splice_region AGXT2 2 82840 2.41429E-5 41420 0 8.23778E-6
5-35035343-C-T p.Asp189Asn missense AGXT2 8 82940 9.64553E-5 41470 0 6.36943E-5
5-35035346-T-C p.Ile188Val missense AGXT2 2 82964 2.41068E-5 41482 0 8.2371E-6
5-35035360-G-A p.Ala183Val missense AGXT2 7 83034 8.43028E-5 41517 0 6.25E-4
5-35035360-G-T p.Ala183Glu missense AGXT2 1 83038 1.20427E-5 41519 0 7.95754E-6
5-35035366-G-C p.Ala181Gly missense AGXT2 1 83102 1.20334E-5 41551 0 1.98929E-5
5-35035371-C-A p.Leu179Leu synonymous AGXT2 1 83122 1.20305E-5 41561 0 8.23723E-6
5-35035371-C-G p.Leu179Leu synonymous AGXT2 1 83122 1.20305E-5 41561 0 3.18431E-5
5-35035373-G-A p.Leu179Leu synonymous AGXT2 1 83124 1.20302E-5 41562 0 3.97845E-6
5-35035384-T-A p.Glu175Val missense AGXT2 2 83146 2.40541E-5 41573 0 NA
5-35035389-G-A p.Ala173Ala synonymous AGXT2 4 83130 4.81174E-5 41565 0 8.2375E-6
5-35035395-T-TG p.Glu172fs frameshift AGXT2 1 83146 1.2027E-5 41573 0 NA
5-35035404-G-A p.Asn168Asn synonymous AGXT2 302 83132 0.00363278 41566 5 0.00825156
5-35035404-G-C p.Asn168Lys missense AGXT2 1 83138 1.20282E-5 41569 0 NA
5-35035410-C-T p.Leu166Leu synonymous AGXT2 1 83134 1.20288E-5 41567 0 NA
5-35035411-A-G p.Leu166Ser missense AGXT2 1 83128 1.20296E-5 41564 0 NA
5-35035425-G-T c.487-4C>A splice_region AGXT2 1 83102 1.20334E-5 41551 0 NA
5-35037033-GAAGAGCATTGTACCTT-G p.Lys162del splice_donor AGXT2 7 82286 8.50692E-5 41143 0 1.2747E-4
5-35037056-C-T p.Glu159Glu synonymous AGXT2 1 82642 1.21004E-5 41321 0 7.96508E-6
5-35037058-C-T p.Glu159Lys missense AGXT2 7 82680 8.46638E-5 41340 0 1.91144E-4
5-35037070-C-T p.Ala155Thr missense AGXT2 3 82748 3.62547E-5 41374 0 4.94315E-5
5-35037073-C-T p.Ala154Thr missense AGXT2 1 82784 1.20796E-5 41392 0 NA
5-35037073-C-G p.Ala154Pro missense AGXT2 1 82784 1.20796E-5 41392 0 3.98159E-6
5-35037084-G-C p.Ala150Gly missense AGXT2 1 82860 1.20685E-5 41430 0 6.36943E-5
5-35037086-A-C p.Tyr149* stop_gained AGXT2 3 82874 3.61995E-5 41437 0 8.23778E-6
5-35037092-A-G p.His147His synonymous AGXT2 2 82894 2.41272E-5 41447 0 NA
5-35037094-G-A p.His147Tyr missense AGXT2 2 82896 2.41266E-5 41448 0 NA
5-35037101-A-T p.Pro144Pro synonymous AGXT2 1 82916 1.20604E-5 41458 0 NA
5-35037115-C-T p.Val140Ile missense AGXT2 14571 82718 0.176153 41359 2324 0.250335
5-35037116-G-A p.Thr139Thr synonymous AGXT2 3 82940 3.61707E-5 41470 0 3.29538E-5
5-35037124-T-A p.Thr137Ser missense AGXT2 1 82956 1.20546E-5 41478 0 NA
5-35037124-T-C p.Thr137Ala missense AGXT2 1 82956 1.20546E-5 41478 0 8.23886E-6
5-35037131-C-A p.Leu134Leu synonymous AGXT2 2 82962 2.41074E-5 41481 0 NA
5-35037135-C-T p.Arg133His missense AGXT2 131 82944 0.00157938 41472 1 0.00318654
5-35037135-C-A p.Arg133Leu missense AGXT2 1 82946 1.2056E-5 41473 0 7.96134E-6
5-35037136-G-A p.Arg133Cys missense AGXT2 323 82936 0.00389457 41468 7 0.00873112
5-35037139-C-G p.Gly132Arg missense AGXT2 920 82910 0.0110964 41455 27 0.0200013
5-35037139-C-T p.Gly132Ser missense AGXT2 6 82946 7.23362E-5 41473 0 1.64813E-5
5-35037146-C-T p.Lys129Lys synonymous AGXT2 6 82930 7.23502E-5 41465 0 1.07476E-4
5-35037163-T-C p.Asn124Asp missense AGXT2 6 82884 7.23903E-5 41442 0 1.91083E-4
5-35037165-A-T p.Val123Glu missense AGXT2 3 82858 3.62065E-5 41429 0 1.27389E-4
5-35037169-T-G p.Lys122Gln missense+splice_region AGXT2 1 82856 1.20691E-5 41428 0 NA
5-35037177-A-T c.363-7T>A splice_region AGXT2 14 82788 1.69107E-4 41394 0 1.27389E-4
5-35039428-C-T c.362+1G>A splice_donor AGXT2 9 82772 1.08732E-4 41386 0 1.15708E-4
5-35039429-G-T p.Pro121Gln missense+splice_region AGXT2 3 82788 3.62371E-5 41394 0 NA
5-35039429-G-A p.Pro121Leu missense+splice_region AGXT2 1 82788 1.2079E-5 41394 0 3.18532E-5
5-35039431-G-A p.His120His splice_region+synonymous AGXT2 1 82788 1.2079E-5 41394 0 4.95696E-5
5-35039437-A-G p.His118His synonymous AGXT2 43891 81480 0.538672 40740 12104 0.541372
5-35039443-A-T p.Val116Val synonymous AGXT2 264 82812 0.00318794 41406 2 0.005
5-35039444-A-T p.Val116Asp missense AGXT2 1 82808 1.20761E-5 41404 0 1.59291E-5
5-35039447-C-A p.Ser115Ile missense AGXT2 1 82802 1.2077E-5 41401 0 NA
5-35039463-C-T p.Gly110Arg missense AGXT2 1 82846 1.20706E-5 41423 0 3.58374E-5
5-35039464-G-A p.Ser109Ser synonymous AGXT2 13 82834 1.5694E-4 41417 0 0.00151515
5-35039464-G-T p.Ser109Ser synonymous AGXT2 4 82834 4.82893E-5 41417 0 3.18634E-5
5-35039479-G-A p.Tyr104Tyr synonymous AGXT2 3 82970 3.61576E-5 41485 0 NA
5-35039481-A-G p.Tyr104His missense AGXT2 3 82952 3.61655E-5 41476 0 6.36948E-5
5-35039486-C-T p.Ser102Asn missense AGXT2 73138 82592 0.885534 41296 32636 0.903633
5-35039491-T-G p.Glu100Asp missense AGXT2 2 83002 2.40958E-5 41501 0 1.64794E-5
5-35039493-C-T p.Glu100Lys missense AGXT2 1 83032 1.20435E-5 41516 0 8.24022E-6
5-35039499-C-T p.Asp98Asn missense AGXT2 1 83052 1.20406E-5 41526 0 NA
5-35039500-A-G p.Phe97Phe synonymous AGXT2 1 83060 1.20395E-5 41530 0 3.18532E-5
5-35039501-A-G p.Phe97Ser missense AGXT2 2 83060 2.4079E-5 41530 0 NA
5-35039505-G-A p.Leu96Phe missense AGXT2 3 83076 3.61115E-5 41538 0 3.98035E-5
5-35039506-C-T p.Trp95* stop_gained AGXT2 1 83070 1.2038E-5 41535 0 3.98026E-6
5-35039514-T-C p.Met93Val missense AGXT2 1 83116 1.20314E-5 41558 0 3.18532E-5
5-35039515-G-T p.His92Gln missense AGXT2 1 83120 1.20308E-5 41560 0 8.24022E-6
5-35039518-C-A p.Gly91Gly synonymous AGXT2 1 83102 1.20334E-5 41551 0 NA
5-35039538-G-T p.Pro85Thr missense AGXT2 1 83152 1.20262E-5 41576 0 NA
5-35039538-G-A p.Pro85Ser missense AGXT2 1 83152 1.20262E-5 41576 0 NA
5-35039551-T-C p.Ala80Ala synonymous AGXT2 2 83178 2.40448E-5 41589 0 NA
5-35039553-C-T p.Ala80Thr missense AGXT2 1 83172 1.20233E-5 41586 0 0.0030303
5-35039554-C-T p.Thr79Thr synonymous AGXT2 16 83176 1.92363E-4 41588 0 1.27364E-4
5-35039555-G-A p.Thr79Met missense AGXT2 14 83172 1.68326E-4 41586 0 1.31896E-4
5-35039568-A-G p.Ser75Pro missense AGXT2 2 83140 2.40558E-5 41570 0 9.1527E-5
5-35039571-G-T p.Leu74Ile missense AGXT2 2 83126 2.40599E-5 41563 0 2.38783E-5
5-35039573-T-C p.His73Arg missense AGXT2 3 83120 3.60924E-5 41560 0 NA
5-35039578-C-T p.Lys71Lys synonymous AGXT2 2 83108 2.40651E-5 41554 0 NA
5-35039579-T-A p.Lys71Met missense AGXT2 1 83094 1.20346E-5 41547 0 3.58218E-5
5-35039597-C-T p.Arg65His missense AGXT2 3 82968 3.61585E-5 41484 0 5.09165E-4
5-35039599-G-T p.Asn64Lys missense AGXT2 2 82930 2.41167E-5 41465 0 1.65243E-5
5-35039606-C-T p.Gly62Asp missense AGXT2 1 82840 1.20715E-5 41420 0 NA
5-35039608-A-G p.Leu61Leu synonymous AGXT2 2 82818 2.41493E-5 41409 0 6.36862E-5
5-35039611-G-A p.Ser60Ser splice_region+synonymous AGXT2 1 82796 1.20779E-5 41398 0 9.55292E-5
5-35039617-T-G c.178-4A>C splice_region AGXT2 3 82636 3.63038E-5 41318 0 2.79085E-5
5-35040698-G-A p.Phe53Phe synonymous AGXT2 2 83150 2.40529E-5 41575 0 1.64745E-5
5-35040702-T-G p.Asp52Ala missense AGXT2 1 83152 1.20262E-5 41576 0 NA
5-35040704-A-C p.Cys51Trp missense AGXT2 1 83168 1.20239E-5 41584 0 NA
5-35040711-G-A p.Pro49Leu missense AGXT2 2 83186 2.40425E-5 41593 0 NA
5-35040717-C-T p.Arg47Lys missense AGXT2 1 83188 1.2021E-5 41594 0 3.97744E-6
5-35040734-A-T p.Ser41Arg missense AGXT2 1 83194 1.20201E-5 41597 0 3.18512E-5
5-35040744-G-T p.Thr38Asn missense AGXT2 1 83196 1.20198E-5 41598 0 NA
5-35040748-C-A p.Val37Leu missense AGXT2 2 83182 2.40437E-5 41591 0 NA
5-35040756-C-T p.Arg34Gln missense AGXT2 6 83144 7.2164E-5 41572 0 1.19325E-5
5-35040758-G-A p.Ser33Ser synonymous AGXT2 2 83132 2.40581E-5 41566 0 3.29489E-5
5-35040764-A-G p.Gly31Gly synonymous AGXT2 1 83110 1.20322E-5 41555 0 NA
5-35040768-A-G p.Leu30Pro missense+splice_region AGXT2 3 83048 3.61237E-5 41524 0 5.171E-5
5-35040772-A-G c.89-4T>C splice_region AGXT2 1 83018 1.20456E-5 41509 0 8.2375E-6
5-35047902-C-T c.88+8G>A splice_region AGXT2 1 82718 1.20893E-5 41359 0 NA
5-35047909-C-T c.88+1G>A splice_donor AGXT2 5 82778 6.04025E-5 41389 0 7.97251E-5
5-35047938-C-T p.Arg20Arg synonymous AGXT2 7 83012 8.43252E-5 41506 0 4.38524E-4
5-35047942-G-A p.Pro19Leu missense AGXT2 9 83030 1.08395E-4 41515 0 2.38882E-5
5-35047946-C-T p.Ala18Thr missense AGXT2 4 83036 4.81719E-5 41518 0 3.30726E-5
5-35047947-G-A p.Ser17Ser synonymous AGXT2 8 83040 9.63391E-5 41520 0 1.23418E-4
5-35047969-C-G p.Arg10Thr missense AGXT2 2 83122 2.4061E-5 41561 0 NA
5-35047979-G-C p.His7Asp missense AGXT2 1 83160 1.2025E-5 41580 0 NA
5-35047980-T-C p.Arg6Arg synonymous AGXT2 1 83144 1.20273E-5 41572 0 3.18674E-5
5-35047981-C-T p.Arg6Lys missense AGXT2 29 83142 3.48801E-4 41571 0 0.00375
5-35047989-T-C p.Leu3Leu synonymous AGXT2 2 83142 2.40552E-5 41571 0 NA
5-35048006-C-T c.-9G>A 5_prime_UTR_premature_start_codon_gain AGXT2 10 83156 1.20256E-4 41578 0 0.003125
5-35048044-G-A c.-47C>T 5_prime_UTR_premature_start_codon_gain AGXT2 7 82880 8.44595E-5 41440 0 1.36377E-4