Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-137843106-T-C p.Ter341Ter stop_retained A4GNT 48362 76010 0.636258 38005 15076 0.654942
3-137843106-TT-CC p.Ter341Trpext*? stop_lost A4GNT 1 83106 1.20328E-5 41553 0 NA
3-137843114-T-C p.Asn339Asp missense A4GNT 1 83170 1.20236E-5 41585 0 NA
3-137843119-G-A p.Pro337Leu missense A4GNT 1 83214 1.20172E-5 41607 0 NA
3-137843123-C-A p.Gly336Cys missense A4GNT 2 83232 2.40292E-5 41616 0 NA
3-137843143-C-A p.Gly329Val missense A4GNT 1 83312 1.20031E-5 41656 0 NA
3-137843152-C-T p.Gly326Asp missense A4GNT 1 83334 1.19999E-5 41667 0 8.23968E-6
3-137843163-G-T p.Asp322Glu missense A4GNT 1 83348 1.19979E-5 41674 0 5.03525E-4
3-137843167-C-T p.Arg321Lys missense A4GNT 2 83352 2.39946E-5 41676 0 8.23805E-6
3-137843172-A-C p.Thr319Thr synonymous A4GNT 11 83354 1.31967E-4 41677 0 2.22944E-4
3-137843187-C-T p.Lys314Lys synonymous A4GNT 1 83360 1.19962E-5 41680 0 NA
3-137843191-C-T p.Arg313His missense A4GNT 1 83358 1.19964E-5 41679 0 8.23655E-6
3-137843194-T-C p.Tyr312Cys missense A4GNT 51 83360 6.11804E-4 41680 0 8.9172E-4
3-137843204-C-G p.Glu309Gln missense A4GNT 4 83370 4.79789E-5 41685 0 3.29457E-5
3-137843213-T-C p.Thr306Ala missense A4GNT 4 83376 4.79754E-5 41688 0 5.27139E-4
3-137843214-G-A p.Asn305Asn synonymous A4GNT 1 83380 1.19933E-5 41690 0 3.9763E-6
3-137843235-C-G p.Arg298Arg synonymous A4GNT 1 83380 1.19933E-5 41690 0 6.3674E-5
3-137843236-C-T p.Arg298Gln missense A4GNT 5 83378 5.99679E-5 41689 0 3.57861E-5
3-137843237-G-A p.Arg298Trp missense A4GNT 8 83378 9.59486E-5 41689 0 1.98813E-5
3-137843237-G-C p.Arg298Gly missense A4GNT 1 83378 1.19936E-5 41689 0 NA
3-137843240-C-T p.Gly297Arg missense A4GNT 7 83380 8.3953E-5 41690 0 6.36862E-5
3-137843240-C-G p.Gly297Arg missense A4GNT 1 83380 1.19933E-5 41690 0 NA
3-137843241-C-T p.Glu296Glu synonymous A4GNT 3 83382 3.5979E-5 41691 0 3.29457E-5
3-137843246-G-T p.Gln295Lys missense A4GNT 291 83378 0.00349013 41689 4 0.00770799
3-137843265-A-T p.His288Gln missense A4GNT 1 83374 1.19941E-5 41687 0 2.47093E-5
3-137843274-A-G p.Tyr285Tyr synonymous A4GNT 1 83370 1.19947E-5 41685 0 8.23655E-6
3-137843282-C-T p.Val283Ile missense A4GNT 1 83374 1.19941E-5 41687 0 3.9764E-6
3-137843283-A-G p.Asn282Asn synonymous A4GNT 348 83366 0.00417436 41683 3 0.0100325
3-137843284-T-C p.Asn282Ser missense A4GNT 1 83376 1.19939E-5 41688 0 9.88403E-5
3-137843290-C-T p.Ser280Asn missense A4GNT 2 83376 2.39877E-5 41688 0 1.64734E-5
3-137843299-G-C p.Thr277Arg missense A4GNT 1 83368 1.1995E-5 41684 0 NA
3-137843318-A-G p.Tyr271His missense A4GNT 1 83354 1.1997E-5 41677 0 3.18451E-5
3-137843320-C-T p.Arg270His missense A4GNT 2 83354 2.3994E-5 41677 0 3.18124E-5
3-137843321-G-A p.Arg270Cys missense A4GNT 7 83346 8.39872E-5 41673 0 0.00100705
3-137843332-C-T p.Arg266Gln missense A4GNT 6 83352 7.19839E-5 41676 0 3.18512E-5
3-137843333-G-A p.Arg266* stop_gained A4GNT 165 83346 0.0019797 41673 2 0.00308957
3-137843342-T-C p.Ile263Val missense A4GNT 1 83348 1.19979E-5 41674 0 NA
3-137843346-G-A p.Tyr261Tyr synonymous A4GNT 1 83354 1.1997E-5 41677 0 NA
3-137843355-T-C p.Gln258Gln synonymous A4GNT 1 83344 1.19985E-5 41672 0 NA
3-137843363-G-A p.His256Tyr missense A4GNT 38 83354 4.55887E-4 41677 0 7.32531E-4
3-137843370-G-A p.Ser253Ser synonymous A4GNT 2 83358 2.39929E-5 41679 0 NA
3-137843376-G-A p.Asn251Asn synonymous A4GNT 1 83358 1.19964E-5 41679 0 3.9764E-6
3-137843382-A-G p.Cys249Cys synonymous A4GNT 1 83360 1.19962E-5 41680 0 NA
3-137843383-C-T p.Cys249Tyr missense A4GNT 1 83368 1.1995E-5 41684 0 1.19296E-5
3-137843393-C-T p.Asp246Asn missense A4GNT 3 83374 3.59824E-5 41687 0 NA
3-137843394-G-A p.Ser245Ser synonymous A4GNT 4 83374 4.79766E-5 41687 0 6.36862E-5
3-137843397-C-T p.Val244Val synonymous A4GNT 3 83372 3.59833E-5 41686 0 NA
3-137843408-A-G p.Phe241Leu missense A4GNT 2 83378 2.39871E-5 41689 0 NA
3-137843408-A-C p.Phe241Val missense A4GNT 1 83378 1.19936E-5 41689 0 NA
3-137843431-C-T p.Arg233Lys missense A4GNT 1 83374 1.19941E-5 41687 0 6.25E-4
3-137843433-C-T p.Leu232Leu synonymous A4GNT 1 83380 1.19933E-5 41690 0 3.9781E-6
3-137843445-C-T p.Met228Ile missense A4GNT 1 83372 1.19944E-5 41686 0 NA
3-137843454-A-T p.Pro225Pro synonymous A4GNT 12 83372 1.43933E-4 41686 0 0.005
3-137843476-G-T p.Ala218Asp missense A4GNT 55215 83182 0.663785 41591 18353 0.654894
3-137843481-A-G p.Asn216Asn synonymous A4GNT 1 83368 1.1995E-5 41684 0 NA
3-137843487-G-T p.His214Gln missense A4GNT 203 83352 0.00243545 41676 2 0.00248439
3-137843496-A-G p.Phe211Phe synonymous A4GNT 1 83352 1.19973E-5 41676 0 1.23644E-4
3-137843501-T-C p.Asn210Asp missense A4GNT 1 83346 1.19982E-5 41673 0 NA
3-137843504-C-G p.Glu209Gln missense A4GNT 2 83348 2.39958E-5 41674 0 NA
3-137843524-G-A p.Pro202Leu missense A4GNT 3 83330 3.60014E-5 41665 0 1.59061E-5
3-137843525-G-A p.Pro202Ser missense A4GNT 1 83330 1.20005E-5 41665 0 6.25E-4
3-137843534-G-T p.Pro199Thr missense A4GNT 1 83318 1.20022E-5 41659 0 3.97665E-6
3-137843537-G-A p.Leu198Phe missense A4GNT 4 83314 4.80111E-5 41657 0 3.29527E-5
3-137843537-G-C p.Leu198Val missense A4GNT 1 83314 1.20028E-5 41657 0 NA
3-137843543-C-G p.Gly196Arg missense A4GNT 2 83302 2.4009E-5 41651 0 NA
3-137843546-A-G p.Phe195Leu missense A4GNT 8 83304 9.60338E-5 41652 0 2.38911E-4
3-137843549-T-C p.Ile194Val missense A4GNT 1 83298 1.20051E-5 41649 0 7.95418E-6
3-137843566-C-T p.Arg188Gln missense A4GNT 3 83256 3.60334E-5 41628 0 3.18552E-5
3-137843567-G-A p.Arg188Trp missense A4GNT 4 83262 4.80411E-5 41631 0 9.0629E-5
3-137843577-C-T p.Ala184Ala synonymous A4GNT 2 83248 2.40246E-5 41624 0 2.47178E-5
3-137843578-G-A p.Ala184Val missense A4GNT 3 83236 3.60421E-5 41618 0 1.98934E-5
3-137843612-T-G p.Ile173Leu missense A4GNT 1 83172 1.20233E-5 41586 0 NA
3-137843624-C-T p.Asp169Asn missense A4GNT 1 83122 1.20305E-5 41561 0 3.1841E-5
3-137843625-G-A p.Thr168Thr synonymous A4GNT 28 83096 3.3696E-4 41548 0 0.00132117
3-137843629-T-C p.Asp167Gly missense A4GNT 7 83080 8.42561E-5 41540 0 3.29592E-5
3-137843633-T-C p.Met166Val missense A4GNT 1 83062 1.20392E-5 41531 0 2.47202E-5
3-137843637-G-T p.Ile164Ile synonymous A4GNT 2 83050 2.40819E-5 41525 1 NA
3-137843638-A-G p.Ile164Thr missense A4GNT 1 83036 1.2043E-5 41518 0 NA
3-137843640-G-A p.Gly163Gly synonymous A4GNT 2 83010 2.40935E-5 41505 0 3.1839E-5
3-137843641-C-G p.Gly163Ala missense A4GNT 1 82990 1.20496E-5 41495 0 NA
3-137843646-G-A p.Tyr161Tyr synonymous A4GNT 2 82944 2.41127E-5 41472 0 1.99033E-5
3-137843649-T-C p.Lys160Lys synonymous A4GNT 3 82934 3.61733E-5 41467 0 3.18492E-5
3-137843669-G-A p.Arg154Cys missense A4GNT 2 82670 2.41926E-5 41335 0 3.1839E-5
3-137843679-C-T p.Ser150Ser synonymous A4GNT 12 82522 1.45416E-4 41261 0 2.39282E-4
3-137843680-G-A p.Ser150Leu missense A4GNT 2 82498 2.4243E-5 41249 0 3.30104E-5
3-137843709-G-A p.Ser140Ser synonymous A4GNT 62 81520 7.6055E-4 40760 0 0.00501253
3-137843715-G-A p.Asn138Asn synonymous A4GNT 2 81172 2.4639E-5 40586 0 3.20128E-5
3-137849702-A-G p.Trp133Arg missense A4GNT 11 83278 1.32088E-4 41639 0 1.63341E-4
3-137849703-T-A p.Ser132Ser synonymous A4GNT 5 83280 6.00384E-5 41640 0 7.96718E-6
3-137849703-T-C p.Ser132Ser synonymous A4GNT 2 83280 2.40154E-5 41640 0 9.16225E-5
3-137849729-G-A p.Leu124Leu synonymous A4GNT 1 83302 1.20045E-5 41651 0 8.25491E-6
3-137849730-C-A p.Arg123Ser missense A4GNT 3 83300 3.60144E-5 41650 0 6.36902E-4
3-137849731-C-A p.Arg123Met missense A4GNT 1 83302 1.20045E-5 41651 0 NA
3-137849731-C-G p.Arg123Thr missense A4GNT 2 83302 2.4009E-5 41651 0 3.18532E-5
3-137849746-G-A p.Pro118Leu missense A4GNT 5 83318 6.0011E-5 41659 0 2.30772E-4
3-137849751-G-A p.Leu116Leu synonymous A4GNT 1 83332 1.20002E-5 41666 0 NA
3-137849759-C-T p.Val114Ile missense A4GNT 3 83332 3.60006E-5 41666 0 1.23278E-4
3-137849760-G-A p.Asn113Asn synonymous A4GNT 1 83336 1.19996E-5 41668 0 1.98842E-5
3-137849761-T-A p.Asn113Ile missense A4GNT 1 83336 1.19996E-5 41668 0 NA
3-137849780-A-G p.Phe107Leu missense A4GNT 1 83348 1.19979E-5 41674 0 NA
3-137849788-G-A p.Ala104Val missense A4GNT 1 83346 1.19982E-5 41673 0 NA
3-137849796-T-C p.Thr101Thr synonymous A4GNT 1 83352 1.19973E-5 41676 0 NA
3-137849808-G-T p.Pro97Pro synonymous A4GNT 433 83354 0.00519471 41677 0 0.00381384
3-137849812-A-G p.Met96Thr missense A4GNT 1 83360 1.19962E-5 41680 0 NA
3-137849814-C-T p.Pro95Pro synonymous A4GNT 2 83356 2.39935E-5 41678 0 1.19299E-5
3-137849815-G-A p.Pro95Leu missense A4GNT 114 83350 0.00136773 41675 0 7.01083E-4
3-137849833-C-T p.Gly89Asp missense A4GNT 1 83344 1.19985E-5 41672 0 8.23723E-6
3-137849847-C-A p.Val84Val synonymous A4GNT 1 83332 1.20002E-5 41666 0 NA
3-137849852-C-G p.Val83Leu missense A4GNT 2 83322 2.40033E-5 41661 0 6.25E-4
3-137849855-G-C p.Pro82Ala missense A4GNT 2 83316 2.4005E-5 41658 0 NA
3-137849861-C-T p.Glu80Lys missense A4GNT 78 83314 9.36217E-4 41657 1 0.00415987
3-137849867-A-G p.Tyr78His missense A4GNT 1 83316 1.20025E-5 41658 0 NA
3-137849876-C-T p.Ala75Thr missense A4GNT 1 83290 1.20062E-5 41645 0 NA
3-137849886-T-A p.Val71Val synonymous A4GNT 140 83252 0.00168164 41626 0 0.00388907
3-137849888-C-T p.Val71Ile missense A4GNT 2050 83224 0.0246323 41612 21 0.0216201
3-137849889-G-C p.Ser70Ser synonymous A4GNT 7 83238 8.40962E-5 41619 0 3.29527E-5
3-137849890-G-A p.Ser70Phe missense A4GNT 2 83226 2.4031E-5 41613 0 NA
3-137849905-T-C p.His65Arg missense A4GNT 6 83200 7.21154E-5 41600 0 9.5706E-5
3-137849907-G-A p.Pro64Pro synonymous A4GNT 1 83188 1.2021E-5 41594 0 6.37674E-5
3-137849908-G-A p.Pro64Leu missense A4GNT 5 83184 6.01077E-5 41592 0 9.56755E-5
3-137849923-T-C p.Glu59Gly missense A4GNT 1 83182 1.20218E-5 41591 0 NA
3-137849949-A-T p.Arg50Arg synonymous A4GNT 1 83168 1.20239E-5 41584 0 NA
3-137849950-C-T p.Arg50His missense A4GNT 1 83176 1.20227E-5 41588 0 1.19374E-5
3-137849951-G-A p.Arg50Cys missense A4GNT 1 83172 1.20233E-5 41586 0 8.23845E-6
3-137849955-G-A p.His48His synonymous A4GNT 2 83192 2.40408E-5 41596 0 1.64764E-5
3-137849961-C-G p.Leu46Leu synonymous A4GNT 2 83194 2.40402E-5 41597 0 NA
3-137849981-G-T p.Gln40Lys missense A4GNT 1 83194 1.20201E-5 41597 0 NA
3-137849999-G-A p.Pro34Ser missense A4GNT 1 83202 1.20189E-5 41601 0 3.9781E-6
3-137850003-A-G p.Cys32Cys synonymous A4GNT 52737 81302 0.648656 40651 17116 0.641866
3-137850007-A-G p.Phe31Ser missense A4GNT 1 83212 1.20175E-5 41606 0 NA
3-137850009-G-A p.Leu30Leu synonymous A4GNT 1 83222 1.20161E-5 41611 0 NA
3-137850019-G-C p.Ser27Cys missense A4GNT 211 83200 0.00253606 41600 1 0.00542265
3-137850037-T-C p.Tyr21Cys missense A4GNT 1 83226 1.20155E-5 41613 0 NA
3-137850039-G-A p.Leu20Leu synonymous A4GNT 6 83238 7.20825E-5 41619 0 6.64011E-5
3-137850044-A-G p.Phe19Leu missense A4GNT 3 83230 3.60447E-5 41615 0 NA
3-137850049-C-A p.Cys17Phe missense A4GNT 1 83212 1.20175E-5 41606 0 NA
3-137850074-G-C p.Leu9Val missense A4GNT 2 83162 2.40494E-5 41581 0 4.03044E-6
3-137850098-T-C p.Met1? start_lost A4GNT 2 82848 2.41406E-5 41424 0 4.26887E-6
3-137850126-T-C c.-26-2A>G splice_acceptor A4GNT 1 79562 1.25688E-5 39781 0 5.39258E-6