Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-241807982-C-T c.-301C>T 5_prime_UTR_premature_start_codon_gain AGXT 6 24706 2.42856E-4 12353 0 2.2293E-4
2-241808088-C-T c.-195C>T 5_prime_UTR_premature_start_codon_gain AGXT 1 63834 1.56656E-5 31917 0 NA
2-241808097-C-A c.-186C>A 5_prime_UTR_premature_start_codon_gain AGXT 10 67602 1.47925E-4 33801 0 3.18451E-5
2-241808107-G-A c.-176G>A 5_prime_UTR_premature_start_codon_gain AGXT 6 69634 8.61648E-5 34817 0 NA
2-241808162-C-T c.-121C>T 5_prime_UTR_premature_start_codon_gain AGXT 6 76294 7.86431E-5 38147 0 3.18431E-5
2-241808196-C-A c.-87C>A 5_prime_UTR_premature_start_codon_gain AGXT 1 78142 1.27972E-5 39071 0 NA
2-241808203-C-T c.-80C>T 5_prime_UTR_premature_start_codon_gain AGXT 2 78448 2.54946E-5 39224 0 1.27372E-4
2-241808222-C-G c.-61C>G 5_prime_UTR_premature_start_codon_gain AGXT 1 79300 1.26103E-5 39650 0 NA
2-241808242-G-A c.-41G>A 5_prime_UTR_premature_start_codon_gain AGXT 1 79896 1.25163E-5 39948 0 NA
2-241808259-C-T c.-24C>T 5_prime_UTR_premature_start_codon_gain AGXT 7 80100 8.73908E-5 40050 0 5.26468E-5
2-241808284-TG-AT p.Met1? start_lost AGXT 2 80104 2.49675E-5 40052 0 NA
2-241808284-T-A p.Met1? start_lost AGXT 1 80104 1.24838E-5 40052 0 NA
2-241808285-G-T p.Met1? start_lost AGXT 1 80168 1.24738E-5 40084 0 NA
2-241808286-G-A p.Ala2Thr missense AGXT 3 80172 3.74195E-5 40086 0 NA
2-241808287-C-T p.Ala2Val missense AGXT 1 80196 1.24694E-5 40098 0 NA
2-241808294-C-T p.His4His synonymous AGXT 1 80418 1.2435E-5 40209 0 NA
2-241808307-A-AC p.Lys12fs frameshift AGXT 22 80400 2.73632E-4 40200 0 4.65649E-4
2-241808307-A-ACC p.Lys12fs frameshift AGXT 1 80406 1.24369E-5 40203 0 NA
2-241808308-C-A p.Thr9Asn missense AGXT 790 80656 0.00979468 40328 3 0.0120846
2-241808309-C-A p.Thr9Thr synonymous AGXT 2 80766 2.47629E-5 40383 0 1.14093E-4
2-241808309-C-G p.Thr9Thr synonymous AGXT 1 80766 1.23814E-5 40383 0 0.00125
2-241808309-C-T p.Thr9Thr synonymous AGXT 1 80766 1.23814E-5 40383 0 NA
2-241808310-C-A p.Pro10Thr missense AGXT 2 80826 2.47445E-5 40413 0 6.25E-4
2-241808310-C-G p.Pro10Ala missense AGXT 2 80826 2.47445E-5 40413 0 9.03081E-6
2-241808311-C-T p.Pro10Leu missense AGXT 3 80872 3.70957E-5 40436 0 8.10425E-6
2-241808313-C-T p.Pro11Ser missense AGXT 9 80968 1.11155E-4 40484 0 6.25391E-4
2-241808313-C-A p.Pro11Thr missense AGXT 6 80968 7.41034E-5 40484 0 2.8321E-5
2-241808313-C-G p.Pro11Ala missense AGXT 7 80968 8.64539E-5 40484 0 6.25391E-4
2-241808314-C-T p.Pro11Leu missense AGXT 13111 80748 0.162369 40374 1227 0.159774
2-241808314-C-A p.Pro11His missense AGXT 45 80996 5.55583E-4 40498 0 0.00223214
2-241808314-CC-TG p.Pro11Leu missense AGXT 1 80996 1.23463E-5 40498 0 NA
2-241808314-C-G p.Pro11Arg missense AGXT 7 80996 8.6424E-5 40498 0 7.45156E-4
2-241808317-A-G p.Lys12Arg missense AGXT 18 81204 2.21664E-4 40602 0 9.15656E-4
2-241808318-G-C p.Lys12Asn missense AGXT 1 81200 1.23153E-5 40600 0 8.08505E-6
2-241808318-G-A p.Lys12Lys synonymous AGXT 1 81200 1.23153E-5 40600 0 NA
2-241808321-C-T p.Ala13Ala synonymous AGXT 3 81356 3.6875E-5 40678 0 1.71236E-5
2-241808322-C-T p.Leu14Leu synonymous AGXT 2 81428 2.45616E-5 40714 0 NA
2-241808330-G-A p.Lys16Lys synonymous AGXT 1 81692 1.22411E-5 40846 0 4.03167E-6
2-241808340-A-C p.Ile20Leu missense AGXT 1 81798 1.22252E-5 40899 0 NA
2-241808345-C-T p.Pro21Pro synonymous AGXT 1 81834 1.22199E-5 40917 0 NA
2-241808347-A-G p.Asn22Ser missense AGXT 1041 81796 0.0127268 40898 20 0.0254086
2-241808352-C-A p.Leu24Ile missense AGXT 1 81874 1.22139E-5 40937 0 3.22136E-5
2-241808354-C-G p.Leu24Leu synonymous AGXT 3 81896 3.66318E-5 40948 0 4.02901E-6
2-241808364-C-T p.Pro28Ser missense AGXT 3 81860 3.66479E-5 40930 0 0.0040282
2-241808402-C-T p.Ala40Ala synonymous AGXT 1 81404 1.22844E-5 40702 0 3.29968E-5
2-241808402-CG-C p.Leu43fs frameshift AGXT 1 81404 1.22844E-5 40702 0 1.21327E-5
2-241808404-G-T p.Gly41Val missense AGXT 1 81382 1.22877E-5 40691 0 NA
2-241808405-G-A p.Gly41Gly synonymous AGXT 1 81378 1.22883E-5 40689 0 NA
2-241808407-G-A p.Gly42Glu missense AGXT 1 81354 1.2292E-5 40677 0 8.41723E-6
2-241808410-T-A p.Leu43Gln missense AGXT 1 81234 1.23101E-5 40617 0 1.50052E-4
2-241808418-A-AAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTT p.Ile46fs frameshift AGXT 1 81092 1.23317E-5 40546 0 NA
2-241808420-C-T p.Ile46Ile synonymous AGXT 1 81026 1.23417E-5 40513 0 4.4489E-5
2-241808420-C-G p.Ile46Met missense AGXT 1 81026 1.23417E-5 40513 0 NA
2-241808421-G-A p.Gly47Arg missense AGXT 2 80948 2.47072E-5 40474 0 0.00100806
2-241808427-A-C p.Met49Leu missense AGXT 36 80924 4.44862E-4 40462 0 5.2332E-4
2-241808429-G-A p.Met49Ile missense AGXT 1 80808 1.2375E-5 40404 0 NA
2-241808438-T-C p.Asp52Asp synonymous AGXT 3 80900 3.70828E-5 40450 0 8.53971E-6
2-241808440-T-C p.Met53Thr missense AGXT 1 80886 1.23631E-5 40443 0 NA
2-241808455-T-A c.165+8T>A splice_region AGXT 1 80624 1.24033E-5 40312 0 NA
2-241808579-G-A c.166-8G>A splice_region AGXT 3 82478 3.63733E-5 41239 0 3.9228E-5
2-241808588-T-A p.Ile56Asn missense+splice_region AGXT 1 82692 1.20931E-5 41346 0 5.57249E-5
2-241808601-C-T p.Ile60Ile synonymous AGXT 1 82800 1.20773E-5 41400 0 NA
2-241808619-C-T p.Tyr66Tyr synonymous AGXT 3 82848 3.62109E-5 41424 0 5.77806E-5
2-241808620-G-A p.Val67Met missense AGXT 1 82840 1.20715E-5 41420 0 3.22831E-5
2-241808633-G-C p.Arg71Thr missense AGXT 1 82858 1.20688E-5 41429 0 NA
2-241808635-A-C p.Asn72His missense AGXT 6 82852 7.24183E-5 41426 0 4.37619E-5
2-241808640-A-C p.Pro73Pro synonymous AGXT 1 82838 1.20718E-5 41419 0 3.18939E-5
2-241808653-A-T p.Ile78Phe missense AGXT 1 82872 1.20668E-5 41436 0 NA
2-241808664-G-A p.Ser81Ser synonymous AGXT 8 82768 9.66557E-5 41384 0 6.25E-4
2-241808665-G-C p.Gly82Arg missense AGXT 1 82778 1.20805E-5 41389 0 3.98057E-6
2-241808679-G-A p.Leu86Leu synonymous AGXT 4 82608 4.84215E-5 41304 0 3.18512E-5
2-241808685-C-T p.Ala88Ala synonymous AGXT 13179 81736 0.161239 40868 1249 0.159617
2-241808685-C-A p.Ala88Ala synonymous AGXT 1 82434 1.21309E-5 41217 0 NA
2-241808687-C-T p.Ala89Val missense AGXT 2 82368 2.42813E-5 41184 0 2.54826E-4
2-241808705-A-T p.Glu95Val missense AGXT 5 81846 6.10903E-5 40923 0 9.56084E-5
2-241808717-C-A p.Ser99Tyr missense AGXT 1 81014 1.23435E-5 40507 0 1.67454E-5
2-241808725-G-T p.Val102Phe missense AGXT 2 80218 2.49321E-5 40109 0 NA
2-241808730-G-A p.Gly103Gly synonymous AGXT 1 79670 1.25518E-5 39835 0 3.18593E-5
2-241808752-C-A p.Arg111Arg synonymous AGXT 2 74692 2.67766E-5 37346 0 6.37349E-5
2-241808753-G-A p.Arg111Gln missense AGXT 5 74620 6.70062E-5 37310 0 6.25E-4
2-241808757-C-T p.Ala112Ala synonymous AGXT 1 73264 1.36493E-5 36632 0 3.18634E-5
2-241808758-G-A p.Val113Met missense AGXT 3 73208 4.09791E-5 36604 0 3.18573E-5
2-241808773-C-T p.Arg118Cys missense AGXT 4 67362 5.93807E-5 33681 0 7.16204E-5
2-241808774-G-A p.Arg118His missense AGXT 4 66940 5.9755E-5 33470 0 6.37267E-5
2-241808777-T-C p.Ile119Thr missense+splice_region AGXT 1 66372 1.50666E-5 33186 0 8.86776E-6
2-241808781-T-G c.358+2T>G splice_donor AGXT 1 65130 1.53539E-5 32565 0 1.80868E-5
2-241808783-A-AGG c.358+4_358+5insGG splice_region AGXT 1 64588 1.54828E-5 32294 0 NA
2-241810053-G-C c.359-8G>C splice_region AGXT 1 80852 1.23683E-5 40426 0 4.97364E-5
2-241810058-C-A c.359-3C>A splice_region AGXT 7 80890 8.65373E-5 40445 0 4.46486E-4
2-241810066-C-T p.Arg122* stop_gained AGXT 2 80886 2.47262E-5 40443 0 0.00210084
2-241810067-G-A p.Arg122Gln missense AGXT 3 80896 3.70847E-5 40448 0 NA
2-241810068-A-C p.Arg122Arg synonymous AGXT 2 80916 2.4717E-5 40458 0 NA
2-241810071-G-A p.Val123Val synonymous AGXT 1 80922 1.23576E-5 40461 0 NA
2-241810076-C-G p.Pro125Arg missense AGXT 3 80916 3.70755E-5 40458 0 6.20717E-6
2-241810076-C-T p.Pro125Leu missense AGXT 2 80916 2.4717E-5 40458 0 NA
2-241810087-G-C p.Asp129His missense AGXT 5 80920 6.17894E-5 40460 0 7.96422E-5
2-241810115-AGGT-A p.Val139del disruptive_inframe_deletion AGXT 1 80510 1.24208E-5 40255 0 NA
2-241810116-GG-AA p.GluVal138GluMet missense AGXT 1 80502 1.24221E-5 40251 0 NA
2-241810119-G-A p.Val139Val synonymous AGXT 1 80386 1.244E-5 40193 0 NA
2-241810762-T-C c.424-4T>C splice_region AGXT 22 81064 2.71391E-4 40532 0 2.233E-4
2-241810771-G-A p.Leu143Leu synonymous AGXT 4 81170 4.92793E-5 40585 0 3.55189E-5
2-241810777-G-C p.Gln145His missense AGXT 3 81166 3.69613E-5 40583 0 3.31631E-5
2-241810792-G-A p.Leu150Leu synonymous AGXT 1 81464 1.22754E-5 40732 0 1.82033E-5
2-241810796-T-A p.Phe152Ile missense AGXT 8 81498 9.81619E-5 40749 1 1.71712E-4
2-241810803-C-T p.Thr154Ile missense AGXT 1 81504 1.22693E-5 40752 0 3.18756E-5
2-241810807-C-T p.His155His synonymous AGXT 3 81500 3.68098E-5 40750 0 0.00101523
2-241810807-C-G p.His155Gln missense AGXT 1 81500 1.22699E-5 40750 0 NA
2-241810808-G-A p.Gly156Arg missense AGXT 3 81480 3.68189E-5 40740 0 4.43243E-5
2-241810808-G-C p.Gly156Arg missense AGXT 1 81480 1.2273E-5 40740 0 NA
2-241810815-C-A p.Ser158* stop_gained AGXT 2 81462 2.45513E-5 40731 0 4.41443E-6
2-241810816-G-A p.Ser158Ser synonymous AGXT 1 81442 1.22787E-5 40721 0 3.18837E-5
2-241810822-C-T p.Thr160Thr synonymous AGXT 4 81428 4.91232E-5 40714 0 5.30654E-5
2-241810823-G-A p.Gly161Ser missense AGXT 1 81408 1.22838E-5 40704 0 6.4026E-5
2-241810825-C-G p.Gly161Gly synonymous AGXT 1 81418 1.22823E-5 40709 0 4.44385E-6
2-241810826-G-A p.Val162Met missense AGXT 5 81414 6.14145E-5 40707 0 1.49522E-4
2-241810831-G-A p.Leu163Leu synonymous AGXT 40 81426 4.91244E-4 40713 0 0.00305188
2-241810833-A-T p.Gln164Leu missense AGXT 1 81420 1.2282E-5 40710 0 1.29842E-4
2-241810834-G-A p.Gln164Gln synonymous AGXT 1 81418 1.22823E-5 40709 0 4.49911E-6
2-241810839-T-C p.Leu166Pro missense AGXT 1 81390 1.22865E-5 40695 0 6.37552E-5
2-241810840-T-C p.Leu166Leu synonymous AGXT 1 81398 1.22853E-5 40699 0 3.18959E-5
2-241810849-C-T p.Phe169Phe synonymous AGXT 2 81294 2.46021E-5 40647 0 6.25782E-4
2-241810850-G-A p.Gly170Arg missense AGXT 52 81300 6.39606E-4 40650 0 0.00102337
2-241810861-C-T p.Cys173Cys synonymous AGXT 1 81246 1.23083E-5 40623 0 2.55232E-5
2-241810872-C-A c.524+6C>A splice_region AGXT 15 81156 1.84829E-4 40578 0 3.24925E-4
2-241812397-T-A p.Tyr176Asn missense+splice_region AGXT 1 81308 1.22989E-5 40654 0 3.19142E-5
2-241812405-C-T p.Cys178Cys synonymous AGXT 1 81384 1.22874E-5 40692 0 NA
2-241812408-G-C p.Leu179Leu synonymous AGXT 5 81446 6.13904E-5 40723 0 0.00100705
2-241812408-G-A p.Leu179Leu synonymous AGXT 1 81448 1.22778E-5 40724 0 NA
2-241812418-G-A p.Asp183Asn missense AGXT 1 81532 1.22651E-5 40766 0 NA
2-241812423-G-A p.Ser184Ser synonymous AGXT 4 81526 4.90641E-5 40763 0 5.7771E-5
2-241812428-C-T p.Ala186Val missense AGXT 247 81508 0.00303038 40754 1 0.011416
2-241812438-C-T p.Gly189Gly synonymous AGXT 23 81432 2.82444E-4 40716 0 9.90835E-5
2-241812439-G-A p.Gly190Arg missense AGXT 2 81420 2.4564E-5 40710 0 4.40663E-5
2-241812440-G-C p.Gly190Ala missense AGXT 1 81410 1.22835E-5 40705 0 NA
2-241812441-G-T p.Gly190Gly synonymous AGXT 1 81410 1.22835E-5 40705 0 3.19163E-5
2-241812444-C-T p.Thr191Thr synonymous AGXT 32 81456 3.9285E-4 40728 0 0.00108405
2-241812447-C-A p.Pro192Pro synonymous AGXT 2 81454 2.45537E-5 40727 0 NA
2-241812454-A-G p.Met195Val missense AGXT 2 81350 2.45851E-5 40675 0 8.27034E-6
2-241812459-C-A p.Asp196Glu missense AGXT 2 81238 2.4619E-5 40619 0 6.37714E-5
2-241812460-C-T p.Arg197Trp missense AGXT 3 81206 3.69431E-5 40603 0 7.62281E-5
2-241812461-G-A p.Arg197Gln missense AGXT 247 81172 0.00304292 40586 1 0.0114291
2-241812468-T-A c.595+2T>A splice_donor AGXT 1 81108 1.23292E-5 40554 0 NA
2-241813388-T-C c.596-7T>C splice_region AGXT 7 82240 8.51167E-5 41120 0 6.61846E-5
2-241813399-C-T p.Ile200Ile synonymous AGXT 3 82318 3.6444E-5 41159 0 1.6541E-5
2-241813402-C-A p.Asp201Glu missense AGXT 2 82358 2.42842E-5 41179 0 8.26925E-6
2-241813412-T-C p.Ser205Pro missense AGXT 1 82426 1.21321E-5 41213 0 3.18674E-5
2-241813412-T-G p.Ser205Ala missense AGXT 1 82426 1.21321E-5 41213 0 NA
2-241813414-G-A p.Ser205Ser synonymous AGXT 3 82404 3.6406E-5 41202 0 3.18634E-5
2-241813414-G-C p.Ser205Ser synonymous AGXT 1 82404 1.21353E-5 41202 0 3.98238E-6
2-241813435-C-T p.Asn212Asn synonymous AGXT 7 82416 8.4935E-5 41208 0 6.37674E-5
2-241813436-G-T p.Ala213Ser missense AGXT 1 82386 1.2138E-5 41193 0 NA
2-241813436-G-A p.Ala213Thr missense AGXT 1 82386 1.2138E-5 41193 0 3.98222E-6
2-241813439-C-T p.Pro214Ser missense AGXT 1 82422 1.21327E-5 41211 0 NA
2-241813445-G-A p.Gly216Arg missense AGXT 3 82358 3.64263E-5 41179 0 1.65328E-5
2-241813450-C-T p.Thr217Thr synonymous AGXT 2 82340 2.42895E-5 41170 0 8.26706E-6
2-241813452-C-T p.Ser218Leu missense AGXT 1 82312 1.21489E-5 41156 0 6.37267E-5
2-241813453-G-A p.Ser218Ser synonymous AGXT 9000 81736 0.110111 40868 544 0.128749
2-241813459-C-T p.Ile220Ile synonymous AGXT 4 82278 4.86157E-5 41139 0 1.48888E-4
2-241813475-G-A p.Ala226Thr missense AGXT 1 81912 1.22082E-5 40956 0 3.18715E-5
2-241813486-G-T c.680+7G>T splice_region AGXT 2 81598 2.45104E-5 40799 0 3.59302E-5
2-241814526-AAAG-A p.Lys229del disruptive_inframe_deletion AGXT 1 83024 1.20447E-5 41512 0 NA
2-241814537-A-T p.Tyr231Phe missense AGXT 1 83126 1.20299E-5 41563 0 NA
2-241814542-C-T p.Arg233Cys missense AGXT 4 83142 4.81105E-5 41571 0 8.24443E-5
2-241814543-G-A p.Arg233His missense AGXT 7 83152 8.41832E-5 41576 0 6.37186E-5
2-241814548-A-T p.Thr235Ser missense AGXT 1 83154 1.20259E-5 41577 0 NA
2-241814549-C-T p.Thr235Met missense AGXT 1 83148 1.20267E-5 41574 0 1.19322E-5
2-241814550-G-A p.Thr235Thr synonymous AGXT 581 83150 0.00698737 41575 19 0.0135738
2-241814562-C-T p.Ser239Ser synonymous AGXT 3 83166 3.60724E-5 41583 0 3.29674E-5
2-241814566-T-C p.Tyr241His missense AGXT 1 83160 1.2025E-5 41580 0 3.18634E-5
2-241814576-T-C p.Ile244Thr missense AGXT 6 83140 7.21674E-5 41570 0 6.37755E-5
2-241814577-C-A p.Ile244Ile synonymous AGXT 187 83142 0.00224916 41571 5 0.00952604
2-241814588-C-T p.Ala248Val missense AGXT 6 83052 7.22439E-5 41526 0 8.75225E-5
2-241814606-A-T p.Asp254Val missense AGXT 1 82856 1.20691E-5 41428 0 NA
2-241814607-C-T p.Asp254Asp synonymous AGXT 12 82844 1.44851E-4 41422 1 3.58092E-5
2-241814608-G-A p.Asp255Asn missense AGXT 9 82802 1.08693E-4 41401 0 9.56267E-5
2-241815346-T-C c.777-6T>C splice_region AGXT 1 83032 1.20435E-5 41516 0 NA
2-241815348-CC-TT c.777-4_777-3delCCinsTT splice_region AGXT 1 83032 1.20435E-5 41516 0 NA
2-241815349-C-T c.777-3C>T splice_region AGXT 1 83036 1.2043E-5 41518 0 6.25E-4
2-241815351-G-C c.777-1G>C splice_acceptor AGXT 1 83042 1.20421E-5 41521 0 1.65527E-5
2-241815367-C-A p.Ile264Ile synonymous AGXT 1 83120 1.20308E-5 41560 0 3.18552E-5
2-241815370-C-T p.Pro265Pro synonymous AGXT 4 83134 4.81151E-5 41567 0 8.27376E-6
2-241815371-G-A p.Val266Ile missense AGXT 7 83124 8.42115E-5 41562 0 5.03525E-4
2-241815374-A-G p.Ile267Val missense AGXT 1 83136 1.20285E-5 41568 0 3.97852E-6
2-241815380-C-T p.Leu269Leu synonymous AGXT 20 83146 2.40541E-4 41573 0 7.64526E-4
2-241815381-T-C p.Leu269Pro missense AGXT 1 83146 1.2027E-5 41573 0 NA
2-241815384-A-G p.Tyr270Cys missense AGXT 2 83148 2.40535E-5 41574 0 3.18593E-5
2-241815393-G-A p.Arg273Lys missense AGXT 1 83144 1.20273E-5 41572 0 NA
2-241815397-G-C p.Glu274Asp missense AGXT 1 83142 1.20276E-5 41571 0 6.25E-4
2-241815411-T-C p.Ile279Thr missense AGXT 175 83102 0.00210585 41551 0 0.00187979
2-241815414-C-T p.Ala280Val missense AGXT 439 83082 0.00528394 41541 11 0.0106695
2-241815414-C-A p.Ala280Glu missense AGXT 4 83092 4.81394E-5 41546 0 3.18492E-5
2-241815415-G-A p.Ala280Ala synonymous AGXT 14 83102 1.68468E-4 41551 0 2.54777E-4
2-241815422-G-T c.846+1G>T splice_donor AGXT 3 83068 3.6115E-5 41534 0 1.68327E-5
2-241815426-A-G c.846+5A>G splice_region AGXT 5 83052 6.02032E-5 41526 0 6.37064E-5
2-241815427-T-C c.846+6T>C splice_region AGXT 1 83046 1.20415E-5 41523 0 1.68939E-5
2-241816949-C-A c.847-5C>A splice_region AGXT 1 78336 1.27655E-5 39168 0 NA
2-241816970-G-A p.Trp288* stop_gained AGXT 2 75722 2.64124E-5 37861 1 NA
2-241816972-C-T p.Arg289Cys missense AGXT 33 75056 4.39672E-4 37528 0 0.00125
2-241816973-G-A p.Arg289His missense AGXT 102 74772 0.00136415 37386 0 0.00354191
2-241816980-C-T p.His291His synonymous AGXT 1 73490 1.36073E-5 36745 0 5.7971E-5
2-241816981-C-T p.Arg292Cys missense AGXT 1 73030 1.3693E-5 36515 0 1.95674E-5
2-241816982-G-A p.Arg292His missense AGXT 3 72654 4.12916E-5 36327 0 6.52001E-6
2-241816983-C-T p.Arg292Arg synonymous AGXT 1 72406 1.3811E-5 36203 0 5.67988E-5
2-241816983-C-A p.Arg292Arg synonymous AGXT 13 72404 1.79548E-4 36202 0 0.00125
2-241816986-G-A p.Glu293Glu synonymous AGXT 1 71862 1.39156E-5 35931 0 NA
2-241816989-C-T p.Ala294Ala synonymous AGXT 3 70874 4.23286E-5 35437 0 6.5094E-6
2-241816990-G-A p.Ala295Thr missense AGXT 741 70244 0.0105489 35122 15 0.0220705
2-241816992-G-A p.Ala295Ala synonymous AGXT 8 69512 1.15088E-4 34756 0 9.56389E-5
2-241816993-G-A p.Ala296Thr missense AGXT 1 69236 1.44434E-5 34618 0 NA
2-241816994-C-T p.Ala296Val missense AGXT 6 68938 8.70347E-5 34469 0 6.37796E-5
2-241816995-G-A p.Ala296Ala synonymous AGXT 7 68632 1.01993E-4 34316 0 3.18735E-5
2-241817006-G-T p.Gly300Val missense AGXT 1 66872 1.49539E-5 33436 0 NA
2-241817023-G-A p.Gly306Arg missense AGXT 1 63494 1.57495E-5 31747 0 NA
2-241817031-G-A p.Gln308Gln synonymous AGXT 2 61964 3.22768E-5 30982 0 6.55059E-6
2-241817038-G-A p.Val311Met missense AGXT 1 59702 1.67499E-5 29851 0 5.71167E-5
2-241817047-C-A p.Pro314Thr missense+splice_region AGXT 1 57490 1.73943E-5 28745 0 NA
2-241817048-C-T p.Pro314Leu missense+splice_region AGXT 11 57046 1.92827E-4 28523 0 2.11817E-4
2-241817049-G-A p.Pro314Pro splice_region+synonymous AGXT 5 56944 8.78056E-5 28472 0 0.00223964
2-241817057-G-A c.942+8G>A splice_region AGXT 1 55944 1.7875E-5 27972 0 6.0024E-5
2-241817440-C-T p.Ala315Val missense+splice_region AGXT 2 82178 2.43374E-5 41089 0 3.18715E-5
2-241817441-G-A p.Ala315Ala splice_region+synonymous AGXT 1 82220 1.21625E-5 41110 0 6.25E-4
2-241817441-G-C p.Ala315Ala splice_region+synonymous AGXT 1 82220 1.21625E-5 41110 0 3.18634E-5
2-241817445-C-T p.Arg317Trp missense AGXT 11 82310 1.33641E-4 41155 0 6.37105E-5
2-241817446-G-A p.Arg317Gln missense AGXT 5 82328 6.07327E-5 41164 0 6.25E-4
2-241817446-G-C p.Arg317Pro missense AGXT 1 82328 1.21465E-5 41164 0 2.52998E-5
2-241817452-CCA-C p.Thr320fs frameshift AGXT 1 82416 1.21336E-5 41208 0 NA
2-241817457-G-C p.Val321Leu missense AGXT 1 82398 1.21362E-5 41199 0 NA
2-241817461-C-G p.Thr322Ser missense AGXT 1 82440 1.213E-5 41220 0 NA
2-241817470-C-T p.Ala325Val missense AGXT 1 82418 1.21333E-5 41209 0 NA
2-241817471-TG-T p.Val326fs frameshift AGXT 1 82430 1.21315E-5 41215 0 8.00968E-6
2-241817472-G-A p.Val326Ile missense AGXT 150 82428 0.00181977 41214 0 0.00347289
2-241817477-C-T p.Pro327Pro synonymous AGXT 3 82522 3.63539E-5 41261 0 4.40074E-5
2-241817478-G-A p.Ala328Thr missense AGXT 2 82426 2.42642E-5 41213 0 1.20075E-5
2-241817485-A-G p.Tyr330Cys missense AGXT 1 82610 1.21051E-5 41305 0 NA
2-241817492-G-C p.Trp332Cys missense AGXT 2 82656 2.41967E-5 41328 0 3.18634E-5
2-241817498-C-T p.Asp334Asp synonymous AGXT 2 82680 2.41896E-5 41340 0 6.3743E-5
2-241817502-G-A p.Val336Ile missense AGXT 3 82688 3.6281E-5 41344 0 6.25E-4
2-241817510-C-T p.Tyr338Tyr synonymous AGXT 2 82788 2.41581E-5 41394 0 5.00125E-5
2-241817516-A-G p.Ile340Met missense AGXT 14152 82656 0.171216 41328 1375 0.171875
2-241817519-C-A p.Asp341Glu missense AGXT 29 82822 3.50149E-4 41411 0 5.04032E-4
2-241817526-G-A p.Asp344Asn missense AGXT 3 82786 3.6238E-5 41393 0 1.99446E-5
2-241817532-G-A p.Glu346Lys missense AGXT 1 82804 1.20767E-5 41402 0 8.33653E-6
2-241817544-G-A p.Gly350Ser missense AGXT 18 82748 2.17528E-4 41374 0 6.69173E-4
2-241817549-T-C p.Leu351Leu synonymous AGXT 2 82678 2.41902E-5 41339 0 1.51783E-4
2-241817553-C-A p.Pro353Thr missense AGXT 1 82612 1.21048E-5 41306 0 NA
2-241817559-A-G p.Thr355Ala missense AGXT 1 82532 1.21165E-5 41266 0 NA
2-241817560-C-T p.Thr355Met missense AGXT 1 82496 1.21218E-5 41248 0 2.51046E-5
2-241817564-G-C p.Gly356Gly synonymous AGXT 1 82450 1.21286E-5 41225 0 3.18776E-5
2-241817570-G-A c.1071+3G>A splice_region AGXT 1 82302 1.21504E-5 41151 0 NA
2-241817575-G-A c.1071+8G>A splice_region AGXT 1 82122 1.2177E-5 41061 0 8.42233E-6
2-241818123-C-T c.1072-8C>T splice_region AGXT 1 79434 1.25891E-5 39717 0 NA
2-241818127-C-T c.1072-4C>T splice_region AGXT 1 79666 1.25524E-5 39833 0 5.44188E-5
2-241818142-C-T p.Ile361Ile synonymous AGXT 2 80350 2.48911E-5 40175 0 6.38162E-5
2-241818158-A-G p.Asn367Asp missense AGXT 1 80926 1.2357E-5 40463 0 NA
2-241818166-CCG-C p.Asn372fs frameshift AGXT 1 81092 1.23317E-5 40546 0 NA
2-241818167-C-T p.Arg370Cys missense AGXT 5 81092 6.16584E-5 40546 0 1.22377E-4
2-241818168-G-A p.Arg370His missense AGXT 1 81102 1.23302E-5 40551 0 0.00125
2-241818169-C-T p.Arg370Arg synonymous AGXT 1 81106 1.23295E-5 40553 0 2.93032E-5
2-241818170-G-A p.Glu371Lys missense AGXT 21 81132 2.58837E-4 40566 0 3.12678E-4
2-241818177-T-C p.Val373Ala missense AGXT 1 81212 1.23135E-5 40606 0 NA
2-241818183-G-A p.Arg375His missense AGXT 2 81244 2.46172E-5 40622 0 0.00153061
2-241818184-C-T p.Arg375Arg synonymous AGXT 2 81244 2.46172E-5 40622 0 0.00153374
2-241818185-G-A p.Val376Met missense AGXT 2 81266 2.46105E-5 40633 0 4.60469E-5
2-241818189-C-T p.Thr377Met missense AGXT 8 81278 9.84276E-5 40639 0 4.45216E-5
2-241818190-G-A p.Thr377Thr synonymous AGXT 1 81290 1.23016E-5 40645 0 2.2835E-5
2-241818201-G-A p.Arg381Lys missense AGXT 71 81338 8.72901E-4 40669 0 9.39087E-4
2-241818203-G-A p.Ala382Thr missense AGXT 2 81334 2.459E-5 40667 0 1.69808E-4
2-241818204-C-T p.Ala382Val missense AGXT 1 81318 1.22974E-5 40659 0 4.26821E-5
2-241818205-G-A p.Ala382Ala synonymous AGXT 5 81332 6.14764E-5 40666 0 3.1902E-5
2-241818218-T-G p.Cys387Gly missense AGXT 3 81346 3.68795E-5 40673 0 4.62959E-6
2-241818229-G-A p.Lys390Lys synonymous AGXT 6 81302 7.37989E-5 40651 0 3.76953E-5