Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-57204576-G-T p.Gln1097Lys missense AASDH 9 83044 1.08376E-4 41522 0 1.1663E-4
4-57204607-A-ATAAT p.Tyr1086fs frameshift AASDH 1 83126 1.20299E-5 41563 0 NA
4-57204614-T-G p.Asp1084Ala missense AASDH 1 83140 1.20279E-5 41570 0 3.18471E-5
4-57204622-C-T p.Gly1081Gly synonymous AASDH 52 83162 6.25286E-4 41581 0 0.00229299
4-57204631-G-A p.Leu1078Leu synonymous AASDH 1 83192 1.20204E-5 41596 0 6.37105E-5
4-57204634-C-CATTG p.Met1077fs frameshift AASDH 1 83186 1.20213E-5 41593 0 NA
4-57204642-C-G p.Glu1075Gln missense AASDH 2 83200 2.40385E-5 41600 0 5.17714E-5
4-57204644-A-AG p.Leu1074fs frameshift AASDH 1 83200 1.20192E-5 41600 0 NA
4-57204648-C-A p.Val1073Phe missense AASDH 2 83204 2.40373E-5 41602 0 3.98267E-6
4-57204649-C-T p.Val1072Val synonymous AASDH 1 83206 1.20184E-5 41603 0 NA
4-57204652-A-C p.Pro1071Pro synonymous AASDH 1 83202 1.20189E-5 41601 0 NA
4-57204665-A-ACTT p.Glu1066dup conservative_inframe_insertion AASDH 1 83190 1.20207E-5 41595 0 NA
4-57204675-G-T p.Pro1064Thr missense AASDH 1 83198 1.20195E-5 41599 0 NA
4-57204676-A-C p.Leu1063Leu synonymous AASDH 1 83194 1.20201E-5 41597 0 8.24171E-6
4-57204683-T-TAAAC p.Tyr1061fs frameshift AASDH 17 83200 2.04327E-4 41600 0 5.03525E-4
4-57204683-T-C p.Tyr1061Cys missense AASDH 1 83200 1.20192E-5 41600 0 3.18471E-5
4-57204687-C-T p.Val1060Ile missense AASDH 1 83192 1.20204E-5 41596 0 NA
4-57204688-A-ACTT p.Gln1058_Ser1059insArg disruptive_inframe_insertion AASDH 1 83190 1.20207E-5 41595 0 2.47243E-5
4-57204689-C-G p.Ser1059Thr missense AASDH 1 83198 1.20195E-5 41599 0 3.98565E-6
4-57204689-C-CTT p.Ser1059fs frameshift AASDH 4 83198 4.80781E-5 41599 0 4.1214E-5
4-57204696-A-G p.Leu1057Leu synonymous AASDH 3 83208 3.60542E-5 41604 0 1.99276E-5
4-57204706-CTG-C p.Gln1053fs frameshift AASDH 1 83190 1.20207E-5 41595 0 8.24103E-6
4-57204712-T-G p.Glu1051Asp missense AASDH 2 83180 2.40442E-5 41590 0 4.12072E-5
4-57204734-T-C p.Asp1044Gly missense AASDH 2 83126 2.40599E-5 41563 0 NA
4-57204757-C-T p.Met1036Ile missense AASDH 7 83124 8.42115E-5 41562 0 1.27348E-4
4-57204759-T-C p.Met1036Val missense AASDH 1 83136 1.20285E-5 41568 0 8.23859E-6
4-57204769-G-A p.Gly1032Gly synonymous AASDH 1 83130 1.20294E-5 41565 0 3.1839E-5
4-57204773-T-C p.Asn1031Ser missense AASDH 1 83148 1.20267E-5 41574 0 0.00100705
4-57204775-G-GTAGT p.Tyr1030fs frameshift AASDH 4 83146 4.81081E-5 41573 0 3.58072E-5
4-57204777-A-C p.Tyr1030Asp missense AASDH 12262 83040 0.147664 41520 1178 0.184678
4-57204777-A-AGTT p.Asn1029dup conservative_inframe_insertion AASDH 3 83144 3.6082E-5 41572 0 8.24131E-6
4-57204777-AG-CA p.AsnTyr1029AsnAsp missense AASDH 1 83144 1.20273E-5 41572 0 NA
4-57204777-A-T p.Tyr1030Asn missense AASDH 2 83144 2.40547E-5 41572 0 NA
4-57204777-A-G p.Tyr1030His missense AASDH 1 83144 1.20273E-5 41572 0 NA
4-57204778-G-A p.Asn1029Asn synonymous AASDH 1 83158 1.20253E-5 41579 0 6.3678E-5
4-57204782-T-C p.His1028Arg missense AASDH 1 83160 1.2025E-5 41580 0 3.29554E-5
4-57204787-A-C p.Ala1026Ala synonymous AASDH 1 83162 1.20247E-5 41581 0 NA
4-57204788-GC-G p.Ala1026fs frameshift AASDH 1 83158 1.20253E-5 41579 0 NA
4-57204793-C-T p.Pro1024Pro synonymous AASDH 2 83154 2.40518E-5 41577 0 2.47178E-5
4-57204797-G-A p.Thr1023Ile missense AASDH 1 83162 1.20247E-5 41581 0 8.23968E-6
4-57204798-T-C p.Thr1023Ala missense AASDH 5 83158 6.01265E-5 41579 0 4.77407E-5
4-57204803-T-C p.Tyr1021Cys missense AASDH 15 83152 1.80393E-4 41576 0 5.03525E-4
4-57204843-C-T p.Gly1008Ser missense AASDH 1 83166 1.20241E-5 41583 0 3.97969E-6
4-57204859-G-A p.Tyr1002Tyr synonymous AASDH 1 83184 1.20215E-5 41592 0 8.25655E-6
4-57204864-TAAAGC-T p.Cys999fs frameshift AASDH 1 83188 1.2021E-5 41594 0 3.98016E-6
4-57204869-C-T p.Cys999Tyr missense AASDH 1 83188 1.2021E-5 41594 0 3.98102E-6
4-57204876-G-A p.His997Tyr missense AASDH 1 83176 1.20227E-5 41588 0 NA
4-57204878-G-A p.Ser996Phe missense AASDH 1 83170 1.20236E-5 41585 0 7.96673E-6
4-57204886-A-AAAT p.Ile992_Phe993insLeu disruptive_inframe_insertion AASDH 1 83134 1.20288E-5 41567 0 3.98257E-6
4-57204887-A-AAT p.Phe993fs frameshift AASDH 1 83134 1.20288E-5 41567 0 7.96514E-6
4-57204890-A-G p.Ile992Thr missense AASDH 1 83136 1.20285E-5 41568 0 NA
4-57204899-T-C p.Glu989Gly missense AASDH 3 83104 3.60993E-5 41552 0 1.6575E-5
4-57204905-G-A p.Pro987Leu missense AASDH 3 83058 3.61193E-5 41529 0 8.2971E-6
4-57204911-G-T p.Tyr845* stop_gained AASDH 1 83014 1.20462E-5 41507 0 6.25E-4
4-57204916-C-T p.Val844Met missense AASDH 31 82966 3.73647E-4 41483 0 2.86789E-4
4-57204917-G-A p.Pro983Leu missense AASDH 2 82964 2.41068E-5 41482 0 3.59018E-5
4-57204929-A-G p.Ile979Thr missense AASDH 1 82866 1.20677E-5 41433 0 NA
4-57204930-T-C p.Ile979Val missense AASDH 1 82852 1.20697E-5 41426 0 NA
4-57204945-A-G p.Ser974Pro missense AASDH 89 82570 0.00107787 41285 0 0.00471158
4-57204946-G-A p.Leu834Phe missense AASDH 1 82564 1.21118E-5 41282 0 3.18451E-5
4-57204947-A-ATAATT p.Phe973fs frameshift AASDH 1 82554 1.21133E-5 41277 0 NA
4-57204959-T-TGTTCTCCAAAGTGAGTAAAGCAGAGTAAATTCCC c.2908-3_2908-2insGGGAATTTACTCTGCTTTACTCACTTTGGAGAAC splice_region AASDH 2 82186 2.4335E-5 41093 0 NA
4-57204959-T-TGTTCTCC c.2908-3_2908-2insGGAGAAC splice_region AASDH 1 82184 1.21678E-5 41092 0 NA
4-57204960-A-G c.2908-3T>C splice_region AASDH 5467 81674 0.0669368 40837 142 0.0987256
4-57204961-T-G c.2908-4A>C splice_region AASDH 3 82054 3.65613E-5 41027 0 3.1835E-5
4-57204961-T-TAAC c.2908-5_2908-4insGTT splice_region AASDH 1 82054 1.21871E-5 41027 0 6.36699E-5
4-57204961-T-TAA c.2908-5_2908-4insTT splice_region AASDH 1 82054 1.21871E-5 41027 0 3.1835E-5
4-57204964-C-A c.2908-7G>T splice_region AASDH 10 81874 1.22139E-4 40937 0 4.08968E-6
4-57204964-C-CAAG c.2908-8_2908-7insCTT splice_region AASDH 1 81876 1.22136E-5 40938 0 NA
4-57208996-A-G c.2907+5T>C splice_region AASDH 1 72468 1.37992E-5 36234 0 1.0005E-5
4-57208997-T-C c.2907+4A>G splice_region AASDH 2 72584 2.75543E-5 36292 0 1.95282E-5
4-57209005-T-C p.Glu968Gly missense AASDH 1 73720 1.35648E-5 36860 0 NA
4-57209032-T-A p.Asn959Ile missense AASDH 1 78322 1.27678E-5 39161 0 NA
4-57209042-C-A p.Val956Leu missense AASDH 1 79868 1.25207E-5 39934 0 4.29627E-6
4-57209044-C-T p.Cys955Tyr missense AASDH 1 80136 1.24788E-5 40068 0 NA
4-57209049-A-G p.Trp746Arg missense AASDH 2 80540 2.48324E-5 40270 0 2.1159E-5
4-57209051-T-C p.Ile953Val missense AASDH 1 80682 1.23943E-5 40341 0 NA
4-57209061-C-T p.Val742Ile missense AASDH 1 81284 1.23025E-5 40642 0 NA
4-57209068-C-T p.Cys947Tyr missense AASDH 4 81422 4.91268E-5 40711 0 NA
4-57209071-C-T p.Cys946Tyr missense AASDH 14 81520 1.71737E-4 40760 0 6.25E-4
4-57209074-T-C p.Gln945Arg missense AASDH 3 81566 3.678E-5 40783 0 NA
4-57209088-G-A p.Leu733Phe missense AASDH 5 81608 6.12685E-5 40804 0 0.00100705
4-57209089-A-G p.Leu940Pro missense AASDH 1 81592 1.22561E-5 40796 0 NA
4-57209092-G-A p.Pro939Leu missense AASDH 1 81536 1.22645E-5 40768 0 NA
4-57209093-G-A p.Pro939Ser missense AASDH 4 81522 4.90665E-5 40761 0 6.41108E-5
4-57209093-G-C p.Pro939Ala missense AASDH 1 81522 1.22666E-5 40761 0 NA
4-57209099-C-T p.Trp729* stop_gained AASDH 1 81412 1.22832E-5 40706 0 8.27089E-6
4-57209115-A-C p.Ile931Met missense AASDH 2 81314 2.4596E-5 40657 0 1.25271E-5
4-57209116-A-G p.Ile931Thr missense AASDH 2 81296 2.46015E-5 40648 0 1.71445E-4
4-57209121-G-A p.Arg722Cys missense AASDH 20 81128 2.46524E-4 40564 0 6.08506E-4
4-57209127-A-G p.Trp720Arg missense AASDH 1 81098 1.23308E-5 40549 0 4.32552E-6
4-57209132-C-T p.Ala926Thr missense+splice_region AASDH 1 81008 1.23445E-5 40504 0 NA
4-57209137-C-T c.2776-5G>A splice_region AASDH 12 80986 1.48174E-4 40493 0 1.9232E-4
4-57209722-GC-AA c.2775+5_2775+6delGCinsTT splice_region AASDH 1 82326 1.21468E-5 41163 0 NA
4-57209724-C-T c.2775+4G>A splice_region AASDH 1 82510 1.21197E-5 41255 0 1.73711E-5
4-57209739-C-G p.Ala922Pro missense AASDH 2 82734 2.41739E-5 41367 0 2.52806E-5
4-57209741-A-C p.Leu921Arg missense AASDH 1 82832 1.20726E-5 41416 0 NA
4-57209763-CA-C p.Phe913fs frameshift AASDH 1 82998 1.20485E-5 41499 0 4.0084E-6
4-57209768-T-C p.Tyr912Cys missense AASDH 2 83022 2.409E-5 41511 0 5.86373E-5
4-57209788-G-A p.Pro698Ser missense AASDH 1 83088 1.20354E-5 41544 0 8.45594E-6
4-57209798-G-A p.Pro902Leu missense AASDH 2 83054 2.40807E-5 41527 0 0.00100705
4-57209810-A-G p.Val898Ala missense AASDH 1 83074 1.20375E-5 41537 0 3.1841E-5
4-57209818-T-C p.Arg688Gly missense AASDH 1 83042 1.20421E-5 41521 0 4.02742E-6
4-57209842-CT-C p.Lys887fs frameshift AASDH 2 83004 2.40952E-5 41502 0 NA
4-57209849-C-CTATAAATA p.Arg885fs frameshift AASDH 1 83006 1.20473E-5 41503 0 NA
4-57209850-T-TATAAATATCTAAAGCATATGCGTGCTGGTCATGAGATCCAATGTAAATGAGTC c.2653-1_2653insGACTCATTTACATTGGATCTCATGACCAGCACGCATATGCTTTAGATATTTAT splice_acceptor AASDH 2 82982 2.41016E-5 41491 0 NA
4-57209854-C-A c.2653-4G>T splice_region AASDH 2 82902 2.41249E-5 41451 0 9.29938E-6
4-57211301-C-G p.Asp882His missense AASDH 1 83062 1.20392E-5 41531 0 NA
4-57211302-T-C p.Leu881Leu synonymous AASDH 3 83072 3.61133E-5 41536 0 3.19E-5
4-57211304-A-C p.Leu881Val missense AASDH 3 83112 3.60959E-5 41556 0 1.28775E-4
4-57211308-A-G p.Tyr879Tyr synonymous AASDH 1 83160 1.2025E-5 41580 0 NA
4-57211313-C-T p.Ala878Thr missense AASDH 4 83186 4.8085E-5 41593 0 2.38831E-5
4-57211314-G-A p.His877His synonymous AASDH 7 83208 8.41265E-5 41604 0 5.03525E-4
4-57211320-G-T p.Asp875Glu missense AASDH 1 83240 1.20135E-5 41620 0 NA
4-57211325-G-A p.His874Tyr missense AASDH 1 83266 1.20097E-5 41633 0 8.25369E-6
4-57211343-G-A p.Leu868Phe missense AASDH 3 83308 3.60109E-5 41654 0 3.19122E-5
4-57211352-T-C p.Thr865Ala missense AASDH 11979 83150 0.144065 41575 1110 0.183021
4-57211364-T-A p.Thr861Ser missense AASDH 1 83336 1.19996E-5 41668 0 NA
4-57211368-C-T p.Ser859Ser synonymous AASDH 15 83326 1.80016E-4 41663 0 2.55558E-4
4-57211369-G-A p.Ser859Leu missense AASDH 2 83334 2.39998E-5 41667 0 6.38244E-5
4-57211389-A-G p.Thr852Thr synonymous AASDH 1 83320 1.20019E-5 41660 0 NA
4-57211415-C-T p.Gly844Arg missense AASDH 2 83280 2.40154E-5 41640 0 NA
4-57211419-A-G p.Asn842Asn synonymous AASDH 1 83278 1.2008E-5 41639 0 NA
4-57211438-A-G p.Val836Ala missense AASDH 1 83188 1.2021E-5 41594 0 NA
4-57211440-T-C p.Leu835Leu synonymous AASDH 4 83174 4.8092E-5 41587 0 5.88928E-5
4-57211446-A-G p.Asn833Asn synonymous AASDH 1 83140 1.20279E-5 41570 0 NA
4-57211447-T-C p.Asn833Ser missense AASDH 1 83134 1.20288E-5 41567 0 NA
4-57211448-T-G p.Asn833His missense AASDH 1 83136 1.20285E-5 41568 0 8.46912E-6
4-57211455-GC-AA p.Gly830Val missense+splice_region AASDH 4 83034 4.8173E-5 41517 0 NA
4-57211456-C-T p.Gly830Asp missense+splice_region AASDH 1 83014 1.20462E-5 41507 0 2.55877E-5
4-57211462-A-C c.2489-6T>G splice_region AASDH 9 82954 1.08494E-4 41477 0 9.58857E-5
4-57215394-A-G p.Asn841Asn synonymous AASDH 1 82818 1.20747E-5 41409 0 1.22766E-5
4-57215396-T-C p.Asn841Asp missense AASDH 1 82842 1.20712E-5 41421 0 4.08797E-6
4-57215410-C-T p.Arg836Lys missense AASDH 1 83034 1.20433E-5 41517 0 NA
4-57215428-C-T c.2488+1G>A splice_donor AASDH 1 83192 1.20204E-5 41596 0 NA
4-57215439-A-G p.Phe826Phe synonymous AASDH 11 83254 1.32126E-4 41627 0 1.9101E-4
4-57215461-C-T p.Cys819Tyr missense AASDH 1 83292 1.2006E-5 41646 0 NA
4-57215466-T-G p.Ser817Ser synonymous AASDH 1 83298 1.20051E-5 41649 0 NA
4-57215466-T-C p.Ser817Ser synonymous AASDH 1 83298 1.20051E-5 41649 0 NA
4-57215480-G-T p.Arg813Arg synonymous AASDH 63 83284 7.56448E-4 41642 1 0.00291635
4-57215480-G-A p.Arg813* stop_gained AASDH 3 83284 3.60213E-5 41642 0 8.24226E-6
4-57215493-C-G p.Gln808His missense AASDH 1 83300 1.20048E-5 41650 0 8.35395E-5
4-57215500-C-T p.Trp806* stop_gained AASDH 2 83298 2.40102E-5 41649 0 6.3678E-5
4-57215511-C-G p.Gly802Gly synonymous AASDH 2 83280 2.40154E-5 41640 0 3.97814E-6
4-57215517-G-C p.Tyr800* stop_gained AASDH 2 83278 2.40159E-5 41639 0 1.64769E-5
4-57215517-G-A p.Tyr800Tyr synonymous AASDH 1 83278 1.2008E-5 41639 0 NA
4-57215523-G-A p.Asp798Asp synonymous AASDH 154 83258 0.00184967 41629 2 0.00136969
4-57215527-A-G p.Val797Ala missense AASDH 2 83264 2.402E-5 41632 0 NA
4-57215528-C-T p.Val797Ile missense AASDH 1 83270 1.20091E-5 41635 0 NA
4-57215539-CTA-C p.His792fs frameshift AASDH 3 83268 3.60282E-5 41634 0 8.23737E-6
4-57215541-A-G p.His792His synonymous AASDH 2 83274 2.40171E-5 41637 0 7.41388E-5
4-57215543-G-A p.His792Tyr missense AASDH 1 83280 1.20077E-5 41640 0 NA
4-57215544-A-G p.Ser791Ser synonymous AASDH 1 83288 1.20065E-5 41644 0 1.64745E-5
4-57215558-T-C p.Ile787Val missense AASDH 406 83314 0.00487313 41657 5 0.0103211
4-57215559-G-A p.Tyr786Tyr synonymous AASDH 1 83326 1.20011E-5 41663 0 2.47113E-5
4-57215566-G-A p.Thr784Ile missense AASDH 1 83322 1.20016E-5 41661 0 1.64742E-5
4-57215567-T-C p.Thr784Ala missense AASDH 13 83322 1.56021E-4 41661 0 5.03525E-4
4-57215597-C-T p.Val774Ile missense AASDH 4 83348 4.79916E-5 41674 0 1.3522E-4
4-57215598-A-T p.Val773Val synonymous AASDH 1 83344 1.19985E-5 41672 0 3.18451E-5
4-57215604-C-T p.Pro771Pro synonymous AASDH 5 83350 5.9988E-5 41675 0 7.95418E-5
4-57215605-G-A p.Pro771Leu missense AASDH 2 83352 2.39946E-5 41676 0 3.18756E-5
4-57215648-C-T p.Val757Met missense AASDH 1 83350 1.19976E-5 41675 0 3.97798E-6
4-57215649-A-G p.His756His synonymous AASDH 3 83348 3.59937E-5 41674 0 3.29495E-5
4-57215649-A-C p.His756Gln missense AASDH 2 83348 2.39958E-5 41674 0 1.19346E-5
4-57215650-T-C p.His756Arg missense AASDH 2 83346 2.39964E-5 41673 0 NA
4-57215662-T-C p.Lys752Arg missense AASDH 1 83330 1.20005E-5 41665 0 NA
4-57215670-C-A p.Gly749Gly synonymous AASDH 4 83314 4.80111E-5 41657 0 3.18471E-5
4-57215673-T-C p.Ile748Met missense AASDH 1 83306 1.20039E-5 41653 0 NA
4-57215676-C-T p.Ala747Ala synonymous AASDH 15 83280 1.80115E-4 41640 0 4.11848E-5
4-57215677-G-A p.Ala747Val missense AASDH 31896 83030 0.38415 41515 6362 0.396274
4-57215681-G-A p.Pro746Ser missense AASDH 2 83282 2.40148E-5 41641 0 NA
4-57215702-T-C p.Lys739Glu missense AASDH 1 83180 1.20221E-5 41590 0 NA
4-57215708-C-T p.Val737Ile missense AASDH 3 83140 3.60837E-5 41570 0 1.27397E-4
4-57215715-T-C p.Pro734Pro synonymous AASDH 1 83102 1.20334E-5 41551 0 NA
4-57215716-G-A p.Pro734Leu missense AASDH 32 83086 3.85143E-4 41543 0 6.36902E-4
4-57215718-A-C p.Asp733Glu missense AASDH 1 83076 1.20372E-5 41538 0 3.2956E-5
4-57215727-C-T p.Lys730Lys synonymous AASDH 1 83000 1.20482E-5 41500 0 1.59246E-5
4-57215730-C-T p.Gly729Gly synonymous AASDH 1 82996 1.20488E-5 41498 0 1.31878E-4
4-57215741-C-A p.Val726Phe missense AASDH 1 82928 1.20587E-5 41464 0 7.9654E-5
4-57215761-A-G p.Leu719Ser missense AASDH 1 82846 1.20706E-5 41423 0 NA
4-57215775-G-C p.Thr714Thr synonymous AASDH 1 82782 1.20799E-5 41391 0 3.98502E-6
4-57215788-G-C p.Ser710* stop_gained AASDH 3 82764 3.62476E-5 41382 0 1.65027E-5
4-57215803-G-A p.Ala705Val missense AASDH 1140 82682 0.0137878 41341 11 0.015
4-57215803-G-C p.Ala705Gly missense AASDH 1 82700 1.20919E-5 41350 0 NA
4-57215816-G-T p.His701Asn missense AASDH 6 82648 7.2597E-5 41324 0 2.22873E-4
4-57215838-A-C p.Thr693Thr synonymous AASDH 1 82590 1.2108E-5 41295 0 NA
4-57215865-C-T p.Gly684Gly synonymous AASDH 19 82572 2.30102E-4 41286 0 1.63393E-4
4-57215875-A-G p.Leu681Pro missense AASDH 1 82634 1.21016E-5 41317 0 NA
4-57215894-T-A p.Ile675Phe missense AASDH 2 82772 2.41628E-5 41386 0 NA
4-57215899-T-C p.Asn673Ser missense AASDH 1 82794 1.20782E-5 41397 0 5.03525E-4
4-57215922-G-A p.Ala665Ala synonymous AASDH 14 82878 1.68923E-4 41439 0 1.23583E-4
4-57215930-G-T p.Gln663Lys missense AASDH 4 82878 4.82637E-5 41439 0 7.96248E-6
4-57215938-G-C p.Ser660Cys missense AASDH 1 82878 1.20659E-5 41439 0 NA
4-57215956-T-G p.Glu654Ala missense AASDH 4 82926 4.82358E-5 41463 0 NA
4-57215969-C-T p.Asp650Asn missense AASDH 1817 82890 0.0219206 41445 21 0.0248489
4-57215970-G-A p.Ser649Ser synonymous AASDH 3 82934 3.61733E-5 41467 0 3.29495E-5
4-57215974-A-G p.Leu648Pro missense AASDH 1 82956 1.20546E-5 41478 0 8.2375E-6
4-57215989-GC-TT p.Ala643Asn missense AASDH 105 82944 0.00126591 41472 0 NA
4-57215989-G-T p.Ala643Asp missense AASDH 11 82944 1.3262E-4 41472 0 0.0031266
4-57215990-C-T p.Ala643Thr missense AASDH 4 82950 4.82218E-5 41475 0 0.0031246
4-57215990-C-A p.Ala643Ser missense AASDH 1 82950 1.20555E-5 41475 0 8.23778E-6
4-57216012-A-G p.Asp635Asp synonymous AASDH 1 83008 1.2047E-5 41504 0 3.29554E-5
4-57216026-C-T p.Val631Ile missense AASDH 32 83010 3.85496E-4 41505 0 0.00114635
4-57216049-T-C p.Tyr623Cys missense AASDH 1 83082 1.20363E-5 41541 0 3.97985E-6
4-57216051-A-T p.Ile622Ile synonymous AASDH 1 83082 1.20363E-5 41541 0 1.31941E-4
4-57216052-A-G p.Ile622Thr missense AASDH 1 83082 1.20363E-5 41541 0 NA
4-57216081-T-A p.Glu612Asp missense AASDH 6 83150 7.21587E-5 41575 0 3.98083E-5
4-57216094-G-C p.Pro608Arg missense AASDH 1 83144 1.20273E-5 41572 0 3.98311E-6
4-57216096-T-A p.Val607Val synonymous AASDH 1 83144 1.20273E-5 41572 0 8.28899E-6
4-57216108-A-T p.Val603Val synonymous AASDH 1 83138 1.20282E-5 41569 0 NA
4-57216110-C-T p.Val603Ile missense AASDH 1 83138 1.20282E-5 41569 0 8.31518E-6
4-57216112-A-C p.Leu602Arg missense AASDH 2 83138 2.40564E-5 41569 0 NA
4-57216113-G-A p.Leu602Phe missense AASDH 1 83138 1.20282E-5 41569 0 1.19744E-5
4-57216121-A-G p.Ile599Thr missense AASDH 1 83112 1.2032E-5 41556 0 NA
4-57216136-C-T p.Arg594Gln missense AASDH 1 82990 1.20496E-5 41495 0 1.68364E-5
4-57216140-T-C p.Ile593Val missense AASDH 5 82976 6.02584E-5 41488 0 6.37024E-5
4-57216143-A-G p.Ser592Pro missense AASDH 1 82902 1.20624E-5 41451 0 4.02029E-6
4-57216146-T-G p.Lys591Gln missense AASDH 3 82864 3.62039E-5 41432 0 1.60958E-5
4-57216166-T-C p.Asn584Ser missense AASDH 1 82402 1.21356E-5 41201 0 NA
4-57216175-A-C p.Leu581Arg missense AASDH 1 82060 1.21862E-5 41030 0 3.1841E-5
4-57216182-C-T p.Glu579Lys missense AASDH 1 81740 1.22339E-5 40870 0 NA
4-57216188-G-A p.Pro577Ser missense AASDH 1 81502 1.22696E-5 40751 0 2.94395E-5
4-57216213-A-T p.Asn568Lys missense AASDH 3 80740 3.71563E-5 40370 0 NA
4-57216214-T-C p.Asn568Ser missense AASDH 1 80716 1.23891E-5 40358 0 NA
4-57216216-C-G p.Leu567Leu synonymous AASDH 2 80650 2.47985E-5 40325 0 4.50576E-6
4-57216227-A-G c.1693-3T>C splice_region AASDH 1 80338 1.24474E-5 40169 0 NA
4-57216232-T-A c.1693-8A>T splice_region AASDH 2 80152 2.49526E-5 40076 0 NA
4-57217525-A-AT p.Leu559fs frameshift AASDH 1 81048 1.23384E-5 40524 0 NA
4-57217536-A-AG p.Leu555fs frameshift AASDH 1 81260 1.23062E-5 40630 0 8.05795E-6
4-57217543-C-A p.Glu553* stop_gained AASDH 1 81464 1.22754E-5 40732 0 1.65972E-5
4-57217563-T-C p.Glu546Gly missense AASDH 1 81558 1.22612E-5 40779 0 NA
4-57217571-C-G p.Leu543Phe missense AASDH 5 81564 6.13016E-5 40782 0 8.01815E-6
4-57217577-T-G p.Ile541Ile synonymous AASDH 2 81550 2.45248E-5 40775 0 NA
4-57217595-CTTGT-C p.Asn534fs frameshift AASDH 1 81090 1.2332E-5 40545 0 NA
4-57217628-A-T c.1577-5T>A splice_region AASDH 2 79006 2.53145E-5 39503 0 8.67845E-6
4-57219562-T-A c.1576+8A>T splice_region AASDH 1 82622 1.21033E-5 41311 0 4.2809E-5
4-57219570-C-T p.Gly526Ser missense+splice_region AASDH 4 82784 4.83185E-5 41392 0 9.55657E-5
4-57219571-G-A p.His525His splice_region+synonymous AASDH 11 82758 1.32918E-4 41379 0 1.17827E-4
4-57219577-T-C p.Thr523Thr synonymous AASDH 1 82916 1.20604E-5 41458 0 1.65514E-5
4-57219578-G-A p.Thr523Ile missense AASDH 1 82928 1.20587E-5 41464 0 NA
4-57219592-G-A p.Asp518Asp synonymous AASDH 49768 81482 0.610785 40741 15191 0.637994
4-57219595-G-A p.Ile517Ile synonymous AASDH 603 83008 0.00726436 41504 15 0.0152268
4-57219597-T-C p.Ile517Val missense AASDH 1 83024 1.20447E-5 41512 0 NA
4-57219603-C-T p.Val515Ile missense AASDH 2 83050 2.40819E-5 41525 0 3.18431E-5
4-57219613-C-T p.Pro511Pro synonymous AASDH 12079 82698 0.146062 41349 1154 0.184306
4-57219614-G-A p.Pro511Leu missense AASDH 1 83032 1.20435E-5 41516 0 3.18756E-5
4-57219616-G-A p.Val510Val synonymous AASDH 35 83040 4.21484E-4 41520 0 5.41539E-4
4-57219635-T-C p.Tyr504Cys missense AASDH 1 83014 1.20462E-5 41507 0 NA
4-57219642-G-A p.Gln502* stop_gained AASDH 2 82996 2.40975E-5 41498 0 NA
4-57219661-T-C p.Glu495Glu synonymous AASDH 5 83018 6.02279E-5 41509 0 3.18492E-5
4-57219662-T-G p.Glu495Ala missense AASDH 5 83022 6.0225E-5 41511 0 3.18573E-5
4-57219664-T-C p.Lys494Lys synonymous AASDH 1 83012 1.20465E-5 41506 0 1.64867E-5
4-57219683-G-A p.Ser488Phe missense AASDH 1 83018 1.20456E-5 41509 0 3.18532E-5
4-57219687-C-A p.Val487Leu missense AASDH 1 83022 1.2045E-5 41511 0 NA
4-57219692-A-G p.Phe485Ser missense AASDH 1 83020 1.20453E-5 41510 0 3.18552E-5
4-57219714-T-C p.Asn478Asp missense AASDH 3 82982 3.61524E-5 41491 0 NA
4-57219727-T-G p.Ala473Ala synonymous AASDH 1 82938 1.20572E-5 41469 0 NA
4-57219741-C-T p.Val469Met missense AASDH 5 82838 6.03588E-5 41419 0 1.59266E-4
4-57219743-T-C p.Gln468Arg missense AASDH 1 82826 1.20735E-5 41413 0 0.00100806
4-57220200-T-C c.1383+5A>G splice_region AASDH 1 82682 1.20945E-5 41341 0 NA
4-57220207-G-A p.Gln461* stop_gained AASDH 1 82778 1.20805E-5 41389 0 NA
4-57220222-T-C p.Ile456Val missense AASDH 21 83010 2.52982E-4 41505 0 5.03525E-4
4-57220231-G-A p.Arg453Cys missense AASDH 1 83098 1.2034E-5 41549 0 3.19142E-5
4-57220240-G-T p.His450Asn missense AASDH 1 83156 1.20256E-5 41578 0 NA
4-57220242-C-T p.Arg449His missense AASDH 4 83174 4.8092E-5 41587 0 3.98616E-6
4-57220243-G-A p.Arg449Cys missense AASDH 1 83184 1.20215E-5 41592 0 8.2511E-6
4-57220249-TCTGA-T p.Ser445fs frameshift AASDH 27 83214 3.24465E-4 41607 0 5.03525E-4
4-57220255-TGTC-T p.Asp444del conservative_inframe_deletion AASDH 1 83244 1.20129E-5 41622 0 NA
4-57220266-C-A p.Gly441Val missense AASDH 1 83240 1.20135E-5 41620 0 NA
4-57220268-CA-C p.Leu440fs frameshift AASDH 1 82748 1.20849E-5 41374 0 0.0256459
4-57220268-C-CA p.Leu440fs frameshift AASDH 7 83040 8.42967E-5 41520 0 0.0161128
4-57220269-A-C p.Leu440Trp missense AASDH 25 83220 3.00409E-4 41610 0 0.00137989
4-57220270-A-G p.Leu440Leu synonymous AASDH 6 83246 7.20755E-5 41623 0 9.80328E-5
4-57220284-C-G p.Gly435Ala missense AASDH 1 83264 1.201E-5 41632 0 NA
4-57220288-C-A p.Asp434Tyr missense AASDH 1 83262 1.20103E-5 41631 0 1.64832E-5
4-57220303-A-C p.Phe429Val missense AASDH 9 83248 1.08111E-4 41624 0 9.55657E-5
4-57220307-T-G p.Gly427Gly synonymous AASDH 2 83236 2.40281E-5 41618 0 NA
4-57220312-T-C p.Thr426Ala missense AASDH 2 83240 2.40269E-5 41620 0 8.24103E-6
4-57220313-A-G p.Ala425Ala synonymous AASDH 2 83220 2.40327E-5 41610 0 NA
4-57220336-C-T p.Val418Ile missense AASDH 1 83062 1.20392E-5 41531 0 NA
4-57220347-T-C p.Asp414Gly missense AASDH 143 82674 0.00172969 41337 0 0.0020141
4-57220357-AAC-A p.Cys410fs frameshift AASDH 1 82216 1.21631E-5 41108 0 4.14559E-6
4-57220362-ACT-A p.Arg408fs frameshift AASDH 2 81958 2.44027E-5 40979 0 6.37349E-5
4-57220881-T-C p.Gln400Gln synonymous AASDH 1 82394 1.21368E-5 41197 0 4.20918E-6
4-57220889-T-C p.Ser398Gly missense AASDH 1 82442 1.21297E-5 41221 0 NA
4-57220907-A-G p.Phe392Leu missense AASDH 6 82690 7.25602E-5 41345 0 8.06484E-5
4-57220946-G-A p.Leu379Phe missense AASDH 1 82776 1.20808E-5 41388 0 1.6494E-5
4-57220947-T-C p.Pro378Pro synonymous AASDH 2 82756 2.41674E-5 41378 0 1.61086E-5
4-57220948-G-A p.Pro378Leu missense AASDH 1 82742 1.20858E-5 41371 0 1.20769E-5
4-57220956-C-T p.Leu375Leu synonymous AASDH 2 82728 2.41756E-5 41364 1 NA
4-57220964-C-T p.Val373Ile missense AASDH 2 82644 2.42002E-5 41322 0 NA
4-57220974-A-G p.Cys369Cys synonymous AASDH 2 82448 2.42577E-5 41224 0 6.36821E-5
4-57220977-T-TTTGAGAGTAGAGTTAAGAGTCTTCTCTGGAATC c.1104-1_1104insGATTCCAGAGAAGACTCTTAACTCTACTCTCAA splice_acceptor AASDH 1 82400 1.21359E-5 41200 0 NA
4-57220977-TC-T c.1104-1delG splice_acceptor AASDH 1 82400 1.21359E-5 41200 0 NA
4-57220977-T-A p.Lys368Asn missense+splice_region AASDH 5 82400 6.06796E-5 41200 0 1.07518E-4
4-57221344-T-C c.1103+4A>G splice_region AASDH 2 83112 2.40639E-5 41556 0 1.24719E-4
4-57221347-C-T c.1103+1G>A splice_donor AASDH 1 83110 1.20322E-5 41555 0 NA
4-57221348-T-C p.Lys368Arg missense+splice_region AASDH 1905 83054 0.0229369 41527 44 0.0429171
4-57221356-AGAGTT-A p.Asn364fs frameshift AASDH 2 83140 2.40558E-5 41570 0 1.59453E-5
4-57221376-G-A p.Pro359Ser missense AASDH 10 83160 1.2025E-4 41580 0 6.25E-4
4-57221376-G-T p.Pro359Thr missense AASDH 1 83160 1.2025E-5 41580 0 NA
4-57221380-C-T p.Arg357Arg synonymous AASDH 1 83182 1.20218E-5 41591 0 NA
4-57221382-T-C p.Arg357Gly missense AASDH 2 83192 2.40408E-5 41596 0 3.18512E-5
4-57221382-T-G p.Arg357Arg synonymous AASDH 2 83192 2.40408E-5 41596 0 8.24606E-6
4-57221392-C-T p.Ala353Ala synonymous AASDH 4 83188 4.80839E-5 41594 0 1.64894E-5
4-57221393-G-A p.Ala353Val missense AASDH 1 83184 1.20215E-5 41592 0 1.31317E-4
4-57221415-T-C p.Ile346Val missense AASDH 1 83210 1.20178E-5 41605 0 3.97788E-6
4-57221418-C-CA p.Gly345fs frameshift AASDH 4 83230 4.80596E-5 41615 0 NA
4-57221427-T-C p.Asn342Asp missense AASDH 1 83230 1.20149E-5 41615 0 3.97776E-6
4-57221435-T-C p.Gln339Arg missense AASDH 1 83218 1.20166E-5 41609 0 NA
4-57221447-C-G p.Gly335Ala missense AASDH 1 83216 1.20169E-5 41608 0 3.97776E-6
4-57221448-C-T p.Gly335Ser missense AASDH 1 83218 1.20166E-5 41609 0 NA
4-57221453-C-G p.Gly333Ala missense AASDH 6 83222 7.20963E-5 41611 0 9.55171E-5
4-57221461-G-A c.-186C>T 5_prime_UTR_premature_start_codon_gain AASDH 1 83218 1.20166E-5 41609 0 3.18451E-5
4-57221478-A-G c.-203T>C 5_prime_UTR_premature_start_codon_gain AASDH 4 83180 4.80885E-5 41590 0 3.18236E-5
4-57221488-C-T p.Ala321Ala synonymous AASDH 4 83178 4.80896E-5 41589 0 3.58049E-5
4-57221489-G-A p.Ala321Val missense AASDH 1 83174 1.2023E-5 41587 0 6.25E-4
4-57221512-T-G p.Arg313Arg synonymous AASDH 5 83160 6.01251E-5 41580 0 3.1839E-5
4-57221513-C-T p.Arg313Gln missense AASDH 5 83152 6.01308E-5 41576 0 2.47125E-5
4-57221514-G-A p.Arg313* stop_gained AASDH 1 83152 1.20262E-5 41576 0 3.1835E-5
4-57221523-T-C p.Thr310Ala missense AASDH 2 83130 2.40587E-5 41565 0 9.88549E-5
4-57221534-A-C p.Leu306Trp missense AASDH 1 83072 1.20378E-5 41536 0 NA
4-57221534-A-G p.Leu306Ser missense AASDH 1 83072 1.20378E-5 41536 0 8.23968E-6
4-57221536-A-C p.Val305Val synonymous AASDH 1 83068 1.20383E-5 41534 0 NA
4-57221544-A-C p.Ser303Ala missense AASDH 1 83002 1.20479E-5 41501 0 NA
4-57221545-C-T p.Lys302Lys synonymous AASDH 3 82990 3.61489E-5 41495 0 5.03525E-4
4-57221548-G-A p.Ile301Ile synonymous AASDH 2 82952 2.41103E-5 41476 0 3.18532E-5
4-57221578-T-C p.Thr291Thr synonymous AASDH 1 82610 1.21051E-5 41305 0 2.39198E-5
4-57221592-G-A c.862-3C>T splice_region AASDH 1 82276 1.21542E-5 41138 0 8.36092E-6
4-57221594-A-G c.862-5T>C splice_region AASDH 3 82206 3.64937E-5 41103 0 6.37389E-5
4-57237620-C-G p.Leu286Phe missense AASDH 1 83154 1.20259E-5 41577 0 4.23948E-6
4-57237631-C-T p.Val283Met missense AASDH 1 83192 1.20204E-5 41596 0 1.16156E-4
4-57237649-G-A p.Leu277Phe missense AASDH 1 83214 1.20172E-5 41607 0 NA
4-57237653-G-A p.Ser275Ser synonymous AASDH 2 83220 2.40327E-5 41610 0 3.18492E-5
4-57237664-T-C p.Lys272Glu missense AASDH 1 83226 1.20155E-5 41613 0 NA
4-57237667-A-G p.Ser271Pro missense AASDH 1 83222 1.20161E-5 41611 0 NA
4-57237683-G-A c.-381C>T 5_prime_UTR_premature_start_codon_gain AASDH 31789 82842 0.38373 41421 6325 0.389728
4-57237686-A-T p.Thr264Thr synonymous AASDH 2 83226 2.4031E-5 41613 0 1.65306E-5
4-57237688-T-G p.Thr264Pro missense AASDH 9 83228 1.08137E-4 41614 0 3.82312E-4
4-57237689-T-C p.Pro263Pro synonymous AASDH 103 83230 0.00123753 41615 0 0.001875
4-57237691-G-A p.Pro263Ser missense AASDH 1 83234 1.20143E-5 41617 0 NA
4-57237706-AG-A p.Ser258fs frameshift AASDH 1 83232 1.20146E-5 41616 0 NA
4-57237713-A-C p.Ser255Arg missense AASDH 40 83238 4.8055E-4 41619 0 0.00100705
4-57237722-A-C p.Ala252Ala synonymous AASDH 12 83236 1.44168E-4 41618 0 7.58956E-5
4-57237723-G-T p.Ala252Asp missense AASDH 1 83232 1.20146E-5 41616 0 NA
4-57237725-A-C c.-423T>G 5_prime_UTR_premature_start_codon_gain AASDH 2 83234 2.40286E-5 41617 0 NA
4-57237733-T-A p.Ile249Leu missense AASDH 1 83236 1.2014E-5 41618 0 NA
4-57237751-C-T p.Asp243Asn missense AASDH 1 83188 1.2021E-5 41594 0 4.0007E-6
4-57237752-G-A c.-450C>T 5_prime_UTR_premature_start_codon_gain AASDH 2 83186 2.40425E-5 41593 0 3.18512E-5
4-57237754-A-G p.Phe242Leu missense AASDH 1 83184 1.20215E-5 41592 0 NA
4-57237775-A-G p.Phe235Leu missense AASDH 1 83098 1.2034E-5 41549 0 NA
4-57237781-C-T p.Val233Ile missense AASDH 1 83060 1.20395E-5 41530 0 1.65336E-5
4-57237783-T-C p.Asp232Gly missense AASDH 2 83020 2.40906E-5 41510 0 8.35659E-6
4-57237788-T-A p.Gln230His missense AASDH 4 82986 4.82009E-5 41493 0 3.18492E-5
4-57244314-C-A p.Arg223Leu missense+splice_region AASDH 202 83236 0.00242683 41618 1 0.00286679
4-57244314-C-T p.Arg223Gln missense+splice_region AASDH 2 83244 2.40258E-5 41622 0 8.61995E-6
4-57244315-G-A p.Arg223Trp missense+splice_region AASDH 2 83242 2.40263E-5 41621 0 5.03525E-4
4-57244320-T-C p.His221Arg missense AASDH 1 83266 1.20097E-5 41633 0 NA
4-57244323-T-C p.Gln220Arg missense AASDH 2 83270 2.40183E-5 41635 0 8.44452E-6
4-57244325-G-A p.Ile219Ile synonymous AASDH 1 83268 1.20094E-5 41634 0 NA
4-57244347-T-C p.His212Arg missense AASDH 2 83320 2.40038E-5 41660 0 3.31246E-5
4-57244356-C-CT p.Arg209fs frameshift AASDH 1 83320 1.20019E-5 41660 0 NA
4-57244362-A-G p.Ile207Thr missense AASDH 1 83328 1.20008E-5 41664 0 4.95082E-5
4-57244367-C-T p.Pro205Pro synonymous AASDH 1 83320 1.20019E-5 41660 0 3.18329E-5
4-57244373-C-T p.Gly203Gly synonymous AASDH 1 83334 1.19999E-5 41667 0 8.24334E-6
4-57244374-C-T p.Gly203Glu missense AASDH 12 83338 1.43992E-4 41669 0 1.59226E-4
4-57244382-C-T p.Gly200Gly synonymous AASDH 1 83338 1.19993E-5 41669 0 1.27348E-4
4-57244387-A-T p.Ser199Thr missense AASDH 1 83340 1.1999E-5 41670 0 NA
4-57244392-T-A p.His197Leu missense AASDH 242 83334 0.00290398 41667 2 0.00149953
4-57244412-A-G p.His190His synonymous AASDH 2 83352 2.39946E-5 41676 0 8.23683E-6
4-57244414-G-C p.His190Asp missense AASDH 25 83346 2.99954E-4 41673 0 2.22987E-4
4-57244435-GTTC-G p.Glu182del conservative_inframe_deletion AASDH 613 83340 0.00735541 41670 15 0.0152993
4-57244438-C-G p.Glu182Gln missense AASDH 1 83320 1.20019E-5 41660 0 3.97703E-6
4-57244438-C-A p.Glu182* stop_gained AASDH 1 83320 1.20019E-5 41660 0 NA
4-57244442-T-C p.Ala180Ala synonymous AASDH 1 83344 1.19985E-5 41672 0 3.97706E-6
4-57244443-G-T p.Ala180Glu missense AASDH 2 83340 2.39981E-5 41670 0 NA
4-57244449-T-C p.Glu178Gly missense AASDH 92 83334 0.00110399 41667 1 0.0017831
4-57244474-T-C p.Ile170Val missense AASDH 2 83274 2.40171E-5 41637 0 NA
4-57244482-A-C p.Ile167Arg missense AASDH 2 83258 2.40217E-5 41629 0 2.47439E-5
4-57244485-T-G p.Lys166Thr missense AASDH 1 83260 1.20106E-5 41630 0 1.65E-5
4-57244512-T-A p.Asp157Val missense AASDH 17 83174 2.04391E-4 41587 0 5.73248E-4
4-57244523-C-A p.Leu153Phe missense AASDH 2 83156 2.40512E-5 41578 0 3.18613E-5
4-57244525-AGT-A p.Asn152fs frameshift AASDH 2 83160 2.405E-5 41580 0 3.18674E-5
4-57244531-C-T p.Val151Met missense AASDH 2 83162 2.40494E-5 41581 0 3.98229E-6
4-57244544-C-G p.Trp146Cys missense AASDH 2 83142 2.40552E-5 41571 0 NA
4-57244548-T-C p.His145Arg missense AASDH 1 83144 1.20273E-5 41572 0 3.98295E-6
4-57244558-A-G p.Phe142Leu missense AASDH 1 83130 1.20294E-5 41565 0 NA
4-57244559-G-A p.Leu141Leu synonymous AASDH 2 83132 2.40581E-5 41566 0 3.585E-5
4-57244566-A-G p.Leu139Pro missense AASDH 1 83124 1.20302E-5 41562 0 NA
4-57244568-G-T p.Asp138Glu missense AASDH 4 83122 4.8122E-5 41561 0 1.19591E-4
4-57244579-C-CTACATA p.Val134_Glu135insTyrVal conservative_inframe_insertion AASDH 1 83138 1.20282E-5 41569 0 NA
4-57244580-C-T p.Val134Val synonymous AASDH 116 83126 0.00139547 41563 0 0.0020141
4-57244596-T-C p.Tyr129Cys missense AASDH 2 83096 2.40685E-5 41548 0 4.28368E-5
4-57244599-T-C p.Asn128Ser missense AASDH 1 83092 1.20349E-5 41546 0 8.68644E-6
4-57244606-A-G p.Leu126Leu synonymous AASDH 2 83044 2.40836E-5 41522 0 NA
4-57244629-TTC-T p.Lys118fs frameshift AASDH 4 82816 4.82998E-5 41408 0 2.92255E-5
4-57244629-T-C p.Lys118Arg missense+splice_region AASDH 1 82816 1.2075E-5 41408 0 9.74184E-6
4-57244630-T-TATTAATTTGTTTTTTTTCAA c.352-1_352insTTGAAAAAAAACAAATTAAT splice_acceptor AASDH 1 82802 1.2077E-5 41401 0 NA
4-57244635-G-A c.352-5C>T splice_region AASDH 1 82698 1.20922E-5 41349 0 NA
4-57248591-A-G n.403T>C splice_region AASDH 6693 80028 0.0836332 40014 340 0.1827
4-57248638-CTTACA-C p.Asn117fs frameshift AASDH 4 82628 4.84097E-5 41314 0 2.21962E-5
4-57248643-A-G p.Asn117Asn splice_region+synonymous AASDH 1 82812 1.20755E-5 41406 0 3.18451E-5
4-57248650-TG-T p.Gln115fs frameshift AASDH 1 82938 1.20572E-5 41469 0 3.18613E-5
4-57248651-GT-G p.Lys114fs frameshift AASDH 1 82942 1.20566E-5 41471 0 1.79606E-5
4-57248651-G-GT p.Gln115fs frameshift AASDH 3 82938 3.61716E-5 41469 0 2.69585E-4
4-57248651-G-C p.Gln115Glu missense AASDH 1 82942 1.20566E-5 41471 0 1.58579E-5
4-57248651-G-T p.Gln115Lys missense AASDH 1 82942 1.20566E-5 41471 0 NA
4-57248656-T-C p.Lys113Arg missense AASDH 3 83012 3.61394E-5 41506 0 NA
4-57248659-T-C p.Glu112Gly missense AASDH 51 83052 6.14073E-4 41526 0 7.87549E-4
4-57248659-TC-CT p.Glu112Arg missense AASDH 1 83054 1.20404E-5 41527 0 NA
4-57248671-T-C p.Tyr108Cys missense AASDH 2 83162 2.40494E-5 41581 0 2.23544E-5
4-57248698-T-C p.His99Arg missense AASDH 2 83278 2.40159E-5 41639 0 4.00407E-6
4-57248714-G-A p.Pro94Ser missense AASDH 12 83322 1.4402E-4 41661 0 6.25E-4
4-57248716-G-C p.Pro93Arg missense AASDH 1913 83254 0.0229779 41627 45 0.043005
4-57248716-G-A p.Pro93Leu missense AASDH 2 83324 2.40027E-5 41662 0 8.42574E-6
4-57248721-A-C p.Asp91Glu missense AASDH 6 83320 7.20115E-5 41660 0 4.00182E-6
4-57248727-C-T p.Glu89Glu synonymous AASDH 98 83330 0.00117605 41665 0 0.00283674
4-57248733-A-G p.Pro87Pro synonymous AASDH 12 83324 1.44016E-4 41662 0 6.68092E-5
4-57248742-A-C p.Ala84Ala synonymous AASDH 120 83330 0.00144006 41665 0 0.00101904
4-57248748-C-T p.Pro82Pro synonymous AASDH 4 83316 4.801E-5 41658 0 2.48051E-5
4-57248749-G-A p.Pro82Leu missense AASDH 1 83310 1.20034E-5 41655 0 1.66806E-5
4-57248755-T-C p.Gln80Arg missense AASDH 5 83314 6.00139E-5 41657 0 3.18492E-5
4-57248759-G-T p.Leu79Ile missense AASDH 1 83310 1.20034E-5 41655 0 NA
4-57248760-A-C p.Ile78Met missense AASDH 1 83304 1.20042E-5 41652 0 NA
4-57248761-A-G p.Ile78Thr missense+splice_region AASDH 1 83300 1.20048E-5 41650 0 NA
4-57248768-A-G c.231-5T>C splice_region AASDH 1 83288 1.20065E-5 41644 0 NA
4-57248769-G-GA c.231-7_231-6insT splice_region AASDH 4 83288 4.80261E-5 41644 0 NA
4-57250236-C-T p.Gly77Glu missense+splice_region AASDH 2 83112 2.40639E-5 41556 0 8.51832E-6
4-57250243-T-C p.Ile75Val missense AASDH 7 83174 8.41609E-5 41587 0 5.17767E-5
4-57250248-G-T p.Ser73Tyr missense AASDH 3 83228 3.60456E-5 41614 0 9.55231E-5
4-57250251-G-A p.Pro72Leu missense AASDH 1 83256 1.20111E-5 41628 0 1.19393E-5
4-57250255-A-G p.Leu71Leu synonymous AASDH 1 83268 1.20094E-5 41634 0 NA
4-57250274-G-A c.-667C>T 5_prime_UTR_premature_start_codon_gain AASDH 1 83300 1.20048E-5 41650 0 NA
4-57250285-T-C p.Ile61Val missense AASDH 1922 83248 0.0230876 41624 44 0.0429156
4-57250290-C-T p.Arg59Gln missense AASDH 4 83294 4.80227E-5 41647 0 3.18512E-5
4-57250291-G-A p.Arg59Trp missense AASDH 29 83300 3.48139E-4 41650 0 0.00109584
4-57250293-A-T p.Ile58Asn missense AASDH 1 83300 1.20048E-5 41650 0 NA
4-57250300-G-T p.Gln56Lys missense AASDH 1 83310 1.20034E-5 41655 0 NA
4-57250310-G-C p.His52Gln missense AASDH 1 83312 1.20031E-5 41656 0 NA
4-57250313-T-G p.Leu51Phe missense AASDH 1 83320 1.20019E-5 41660 0 NA
4-57250327-T-G p.Asn47His missense AASDH 1 83322 1.20016E-5 41661 0 6.37186E-5
4-57250348-T-C p.Asn40Asp missense AASDH 2 83304 2.40085E-5 41652 0 NA
4-57250348-T-TA p.Asn40fs frameshift AASDH 1 83304 1.20042E-5 41652 0 1.64753E-5
4-57250358-C-A p.Lys36Asn missense AASDH 1 83310 1.20034E-5 41655 0 NA
4-57250359-T-C p.Lys36Arg missense AASDH 1 83310 1.20034E-5 41655 0 NA
4-57250372-A-T p.Tyr32Asn missense AASDH 1 83312 1.20031E-5 41656 0 NA
4-57250373-A-C p.Val31Val synonymous AASDH 1 83310 1.20034E-5 41655 0 NA
4-57250381-G-A p.Leu29Phe missense AASDH 1 83296 1.20054E-5 41648 0 NA
4-57250384-G-C p.Gln28Glu missense AASDH 2 83298 2.40102E-5 41649 0 NA
4-57250386-T-C p.Asn27Ser missense AASDH 1 83300 1.20048E-5 41650 0 NA
4-57250390-T-C p.Asn26Asp missense AASDH 8 83298 9.60407E-5 41649 0 5.03525E-4
4-57250414-C-T p.Val18Ile missense AASDH 1 83268 1.20094E-5 41634 0 3.97719E-6
4-57250416-C-T p.Arg17Lys missense AASDH 40 83270 4.80365E-4 41635 1 3.57953E-5
4-57250418-G-C p.Asp16Glu missense AASDH 1 83264 1.201E-5 41632 0 NA
4-57250420-C-T p.Asp16Asn missense AASDH 4 83266 4.80388E-5 41633 0 5.03525E-4
4-57250424-A-G p.Tyr14Tyr synonymous AASDH 1 83260 1.20106E-5 41630 0 NA
4-57250425-T-C p.Tyr14Cys missense AASDH 1 83264 1.201E-5 41632 0 NA
4-57250431-G-A p.Ser12Phe missense AASDH 1 83240 1.20135E-5 41620 0 1.19331E-5
4-57250438-C-G p.Ala10Pro missense AASDH 2 83206 2.40367E-5 41603 0 8.2481E-6
4-57250442-A-T p.His8Gln missense AASDH 51 83194 6.13025E-4 41597 0 0.00232469
4-57250454-C-T p.Gln4Gln synonymous AASDH 1 83124 1.20302E-5 41562 0 NA
4-57250455-T-C p.Gln4Arg missense AASDH 1 83114 1.20317E-5 41557 0 8.26187E-6
4-57250461-G-A p.Thr2Ile missense AASDH 2 83088 2.40709E-5 41544 0 9.55171E-5
4-57250507-C-CTTAGCAAGTCTCGCGGATTAGGTTTGATCGCATTCGG c.-42-1_-42insCCGAATGCGATCAAACCTAATCCGCGAGACTTGCTAA splice_acceptor AASDH 2 81722 2.44732E-5 40861 1 NA
4-57250507-C-CTTAGCAAGT c.-42-1_-42insACTTGCTAA splice_acceptor AASDH 3 81722 3.67098E-5 40861 1 NA
4-57253577-T-C c.-92A>G 5_prime_UTR_premature_start_codon_gain AASDH 2 2950 6.77966E-4 1475 0 0.00684888