Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-133795487-C-T p.Gly375Glu missense ANHX 2 76520 2.6137E-5 38260 0 NA
12-133795507-C-T p.Arg368Arg synonymous ANHX 3 76554 3.9188E-5 38277 0 NA
12-133795515-CCCAGAAGGCATCA-C p.Asp362fs frameshift ANHX 3 76558 3.9186E-5 38279 0 NA
12-133795517-C-T p.Trp365* stop_gained ANHX 1 76560 1.30617E-5 38280 0 NA
12-133795529-C-T p.Gly361Asp missense ANHX 1 76556 1.30623E-5 38278 0 7.45835E-6
12-133795557-C-T p.Val352Met missense+splice_region ANHX 1 76494 1.30729E-5 38247 0 NA
12-133795565-A-G c.1054-8T>C splice_region ANHX 2 76454 2.61595E-5 38227 0 3.19E-5
12-133795864-C-T c.1053+5G>A splice_region ANHX 2 74440 2.68673E-5 37220 0 NA
12-133795868-C-T c.1053+1G>A splice_donor ANHX 1 74476 1.34271E-5 37238 0 NA
12-133795868-C-A c.1053+1G>T splice_donor ANHX 1 74476 1.34271E-5 37238 0 NA
12-133795885-G-A p.Ala346Val missense ANHX 29709 73040 0.40675 36520 6469 0.4736
12-133795885-GC-AT p.Ala346Ile missense ANHX 1 74442 1.34333E-5 37221 0 NA
12-133795890-G-A p.Ser344Ser synonymous ANHX 1 74394 1.34419E-5 37197 0 NA
12-133795894-A-G p.Leu343Pro missense ANHX 1 74340 1.34517E-5 37170 0 7.44957E-6
12-133795895-G-A p.Leu343Leu synonymous ANHX 1 74300 1.34589E-5 37150 0 6.25E-4
12-133795897-T-C p.Glu342Gly missense ANHX 1 74236 1.34706E-5 37118 0 NA
12-133795901-T-C p.Met341Val missense ANHX 1 74172 1.34822E-5 37086 0 1.49154E-5
12-133795916-C-T p.Gly336Ser missense ANHX 11 73562 1.49534E-4 36781 0 1.91278E-4
12-133795917-G-A p.Pro335Pro synonymous ANHX 1 73688 1.35707E-5 36844 0 6.25E-4
12-133795918-G-C p.Pro335Arg missense ANHX 3 73640 4.07387E-5 36820 0 3.18471E-5
12-133795918-G-A p.Pro335Leu missense ANHX 1 73640 1.35796E-5 36820 0 1.50216E-5
12-133795925-C-T p.Ala333Thr missense ANHX 1 73312 1.36403E-5 36656 0 NA
12-133795932-G-A p.Ala330Ala synonymous ANHX 1 73086 1.36825E-5 36543 0 7.58725E-6
12-133795937-G-C p.Pro329Ala missense ANHX 2 72876 2.74439E-5 36438 0 NA
12-133795949-G-C p.Pro325Ala missense ANHX 1 72290 1.38332E-5 36145 0 NA
12-133795952-G-A p.Pro324Ser missense+splice_region ANHX 1 72062 1.38769E-5 36031 0 NA
12-133795960-A-G c.969-7T>C splice_region ANHX 29322 65918 0.444825 32959 6601 0.533297
12-133797797-G-C p.Thr321Ser missense ANHX 1 76200 1.31234E-5 38100 0 NA
12-133797799-G-A p.Leu320Leu synonymous ANHX 2 76208 2.6244E-5 38104 0 9.56145E-5
12-133797819-G-T p.Gln314Lys missense ANHX 1 76206 1.31223E-5 38103 0 NA
12-133797826-G-A p.Pro311Pro synonymous ANHX 3 76180 3.93804E-5 38090 0 9.56206E-5
12-133797835-C-T p.Val308Val synonymous ANHX 1 76146 1.31327E-5 38073 0 2.22992E-5
12-133797839-A-T p.Leu307Gln missense ANHX 1 76120 1.31372E-5 38060 0 NA
12-133797851-A-G p.Val303Ala missense ANHX 1 76044 1.31503E-5 38022 0 NA
12-133797855-G-A p.Arg302Trp missense ANHX 1 75968 1.31634E-5 37984 0 NA
12-133797866-C-T p.Arg298Gln missense ANHX 4 75876 5.27176E-5 37938 0 6.37714E-5
12-133797867-G-A p.Arg298Trp missense ANHX 2 75880 2.63574E-5 37940 0 3.18817E-5
12-133797869-C-T p.Gly297Glu missense ANHX 1 75888 1.31773E-5 37944 0 NA
12-133797870-C-T p.Gly297Arg missense ANHX 2 75858 2.63651E-5 37929 0 7.43417E-6
12-133797901-C-T p.Val286Val synonymous ANHX 3 74948 4.00278E-5 37474 0 7.4479E-6
12-133797903-C-T p.Val286Met missense ANHX 5 74796 6.68485E-5 37398 0 3.72445E-5
12-133797908-T-G p.Gln284Pro missense ANHX 1 74566 1.34109E-5 37283 0 1.49379E-5
12-133797918-C-T p.Gly281Ser missense+splice_region ANHX 6 73606 8.15151E-5 36803 0 6.37592E-5
12-133797919-G-A p.Ser280Ser splice_region+synonymous ANHX 1 73460 1.36129E-5 36730 0 7.51778E-6
12-133797921-TG-T c.840-3delC splice_region ANHX 13 73244 1.77489E-4 36622 0 1.51953E-4
12-133797921-T-TG c.840-3_840-2insC splice_region ANHX 3 73236 4.09635E-5 36618 0 5.31834E-5
12-133797923-G-T c.840-4C>A splice_region ANHX 3 72812 4.1202E-5 36406 0 1.72801E-4
12-133797924-G-A c.840-5C>T splice_region ANHX 6 72688 8.25446E-5 36344 0 6.3743E-5
12-133802899-A-G c.839+5T>C splice_region ANHX 10 75962 1.31645E-4 37981 0 1.59266E-4
12-133802901-T-G c.839+3A>C splice_region ANHX 14 76014 1.84177E-4 38007 0 2.86716E-4
12-133802910-T-C p.Asp278Gly missense ANHX 1 76222 1.31196E-5 38111 0 1.48403E-5
12-133802913-A-T p.Leu277Gln missense ANHX 1 76266 1.3112E-5 38133 0 NA
12-133802922-G-A p.Ser274Leu missense ANHX 1 76340 1.30993E-5 38170 0 NA
12-133802924-G-A p.Val273Val synonymous ANHX 2 76348 2.61958E-5 38174 0 NA
12-133802928-G-A p.Thr272Ile missense ANHX 1 76358 1.30962E-5 38179 0 NA
12-133802939-G-A p.Pro268Pro synonymous ANHX 5 76386 6.5457E-5 38193 0 1.03862E-4
12-133802941-G-T p.Pro268Thr missense ANHX 1 76408 1.30876E-5 38204 0 1.48364E-5
12-133802942-A-C p.Phe267Leu missense ANHX 1 76406 1.3088E-5 38203 0 6.3743E-5
12-133802948-C-T p.Pro265Pro synonymous ANHX 7 76408 9.16134E-5 38204 0 4.45044E-5
12-133802949-G-A p.Pro265Leu missense ANHX 7 76398 9.16254E-5 38199 0 1.27389E-4
12-133802952-G-A p.Ala264Val missense ANHX 1 76422 1.30852E-5 38211 0 NA
12-133802953-C-T p.Ala264Thr missense ANHX 1 76412 1.30869E-5 38206 0 NA
12-133802959-C-T p.Ala262Thr missense ANHX 1 76402 1.30887E-5 38201 0 3.70909E-5
12-133802960-C-T p.Leu261Leu synonymous ANHX 1 76402 1.30887E-5 38201 0 NA
12-133802972-T-C p.Pro257Pro synonymous ANHX 1 76376 1.30931E-5 38188 0 2.96793E-5
12-133802981-G-A p.Thr254Thr synonymous ANHX 1 76306 1.31051E-5 38153 0 NA
12-133802982-G-A p.Thr254Ile missense ANHX 162 76308 0.00212298 38154 0 0.00423513
12-133802982-G-T p.Thr254Asn missense ANHX 1 76308 1.31048E-5 38154 0 NA
12-133802984-G-T p.Thr253Thr synonymous ANHX 29 76280 3.80178E-4 38140 0 9.87387E-4
12-133802984-G-A p.Thr253Thr synonymous ANHX 2 76282 2.62185E-5 38141 0 3.18512E-5
12-133803000-G-A p.Pro248Leu missense ANHX 1 76064 1.31468E-5 38032 0 NA
12-133803001-G-A p.Pro248Ser missense ANHX 1 76064 1.31468E-5 38032 0 1.49169E-5
12-133803018-C-T p.Arg242His missense ANHX 7 75670 9.25069E-5 37835 0 9.56145E-5
12-133803019-G-A p.Arg242Cys missense ANHX 6 75640 7.93231E-5 37820 0 0.00122249
12-133803020-T-A p.Glu241Asp missense ANHX 1 75632 1.32219E-5 37816 0 7.52887E-6
12-133803028-A-G c.719-4T>C splice_region ANHX 1 75314 1.32777E-5 37657 0 NA
12-133803518-T-C c.718+4A>G splice_region ANHX 1 76338 1.30996E-5 38169 0 NA
12-133803527-C-A p.Trp238Leu missense ANHX 1 76428 1.30842E-5 38214 0 3.18552E-5
12-133803530-TGA-T p.Gln237fs frameshift ANHX 1 76436 1.30828E-5 38218 0 NA
12-133803540-C-T p.Asp234Asn missense ANHX 2 76490 2.61472E-5 38245 0 NA
12-133803551-G-C p.Ser230Cys missense ANHX 14562 75886 0.191893 37943 1518 0.237002
12-133803560-C-T p.Arg227His missense ANHX 8 76528 1.04537E-4 38264 0 8.3269E-5
12-133803561-G-A p.Arg227Cys missense ANHX 4 76538 5.22616E-5 38269 0 1.01833E-4
12-133803568-G-T p.Gly224Gly synonymous ANHX 2 76542 2.61294E-5 38271 0 7.52468E-6
12-133803572-G-C p.Ser223* stop_gained ANHX 1 76546 1.3064E-5 38273 0 7.50627E-6
12-133803578-T-C p.Gln221Arg missense ANHX 1 76552 1.3063E-5 38276 0 NA
12-133803585-G-A p.Leu219Phe missense ANHX 1 76562 1.30613E-5 38281 0 9.09256E-5
12-133803586-G-T p.Asp218Glu missense ANHX 2 76554 2.61253E-5 38277 0 7.46425E-6
12-133803600-C-G p.Glu214Gln missense ANHX 2 76560 2.61233E-5 38280 0 3.18552E-5
12-133803602-C-T p.Arg213Lys missense ANHX 6 76556 7.8374E-5 38278 0 2.2362E-5
12-133803605-G-A p.Ala212Val missense ANHX 5 76556 6.53117E-5 38278 0 8.19843E-5
12-133803609-C-T p.Gly211Ser missense ANHX 1 76558 1.3062E-5 38279 0 3.18756E-5
12-133803609-C-A p.Gly211Cys missense ANHX 1 76558 1.3062E-5 38279 0 NA
12-133803620-G-A p.Ala207Val missense ANHX 37 76546 4.83369E-4 38273 0 8.60256E-4
12-133803621-C-G p.Ala207Pro missense ANHX 1 76554 1.30627E-5 38277 0 7.43727E-6
12-133803622-T-A p.Thr206Thr synonymous ANHX 4 76554 5.22507E-5 38277 0 1.91168E-4
12-133803626-G-T p.Ala205Asp missense ANHX 1 76556 1.30623E-5 38278 0 NA
12-133803645-T-C p.Met199Val missense ANHX 5 76566 6.53031E-5 38283 0 9.55901E-5
12-133803653-G-A p.Pro196Leu missense ANHX 1 76578 1.30586E-5 38289 0 NA
12-133803660-C-G p.Ala194Pro missense ANHX 1 76574 1.30593E-5 38287 0 NA
12-133803668-C-T p.Arg191His missense ANHX 7 76570 9.14196E-5 38285 0 0.0028169
12-133803669-G-A p.Arg191Cys missense ANHX 1 76580 1.30582E-5 38290 0 7.43682E-6
12-133803670-G-T p.Arg190Arg synonymous ANHX 2 76584 2.61151E-5 38292 0 7.43716E-6
12-133803671-C-T p.Arg190His missense ANHX 100 76576 0.00130589 38288 1 0.0012747
12-133803672-G-A p.Arg190Cys missense ANHX 1 76582 1.30579E-5 38291 0 NA
12-133803675-G-A p.Arg189Trp missense ANHX 1 76588 1.30569E-5 38294 0 4.46216E-5
12-133803692-T-C p.Asn183Ser missense ANHX 1 76602 1.30545E-5 38301 0 NA
12-133803695-T-C p.Tyr182Cys missense ANHX 2 76600 2.61097E-5 38300 0 NA
12-133803702-G-C p.Gln180Glu missense ANHX 2 76600 2.61097E-5 38300 0 NA
12-133803704-T-G p.Glu179Ala missense ANHX 1 76602 1.30545E-5 38301 0 NA
12-133803708-G-T p.Pro178Thr missense ANHX 2 76608 2.61069E-5 38304 0 NA
12-133803718-C-T p.Thr174Thr synonymous ANHX 1 76616 1.30521E-5 38308 0 7.47977E-6
12-133803719-G-A p.Thr174Met missense ANHX 14 76612 1.82739E-4 38306 0 1.94599E-4
12-133803730-C-T p.Leu170Leu synonymous ANHX 10 76604 1.30541E-4 38302 0 1.27839E-4
12-133803734-T-C p.Asn169Ser missense ANHX 2 76596 2.6111E-5 38298 0 9.045E-5
12-133803744-C-A c.502-6G>T splice_region ANHX 1 76596 1.30555E-5 38298 0 NA
12-133803746-C-G c.502-8G>C splice_region ANHX 1 76592 1.30562E-5 38296 0 NA
12-133804413-C-G p.Glu166Asp missense ANHX 1 76404 1.30883E-5 38202 0 1.48767E-5
12-133804424-T-A p.Ser163Cys missense ANHX 1 76436 1.30828E-5 38218 0 NA
12-133804425-G-T p.Pro162Pro synonymous ANHX 12 76440 1.56986E-4 38220 1 3.25309E-4
12-133804426-G-A p.Pro162Leu missense ANHX 1 76436 1.30828E-5 38218 0 NA
12-133804432-G-T p.Thr160Asn missense ANHX 1 76442 1.30818E-5 38221 0 NA
12-133804433-T-C p.Thr160Ala missense ANHX 1 76440 1.30822E-5 38220 0 NA
12-133804435-T-C p.Asn159Ser missense ANHX 6 76442 7.84909E-5 38221 0 8.12612E-5
12-133804442-C-T p.Gly157Arg missense ANHX 3 76430 3.92516E-5 38215 0 1.60844E-4
12-133804443-C-A p.Val156Val synonymous ANHX 4 76426 5.23382E-5 38213 0 5.20585E-5
12-133804448-C-T p.Ala155Thr missense ANHX 2 76406 2.6176E-5 38203 0 3.22082E-5
12-133804449-G-A p.Phe154Phe synonymous ANHX 2 76414 2.61732E-5 38207 0 3.22186E-5
12-133804466-C-T p.Glu149Lys missense ANHX 2 76350 2.61952E-5 38175 0 NA
12-133804468-C-T p.Arg148His missense ANHX 3 76286 3.93257E-5 38143 0 3.24191E-5
12-133804469-G-C p.Arg148Gly missense ANHX 1 76238 1.31168E-5 38119 0 3.24696E-5
12-133804478-T-C p.Arg145Gly missense ANHX 1 76100 1.31406E-5 38050 0 7.44513E-6
12-133804479-G-A p.Pro144Pro synonymous ANHX 30 76126 3.94084E-4 38063 0 5.84909E-4
12-133804489-C-T p.Arg141Gln missense ANHX 1 75646 1.32195E-5 37823 0 7.4469E-6
12-133804492-C-T p.Ser140Asn missense ANHX 2 75478 2.64978E-5 37739 0 NA
12-133804497-C-T p.Leu138Leu synonymous ANHX 1 75020 1.33298E-5 37510 0 NA
12-133804502-C-T p.Gly137Arg missense ANHX 1 74214 1.34745E-5 37107 0 NA
12-133804510-C-A p.Cys134Phe missense ANHX 1 73314 1.364E-5 36657 0 7.92607E-6
12-133804514-G-C p.Leu133Val missense ANHX 1 73418 1.36206E-5 36709 0 NA
12-133804517-A-G p.Ser132Pro missense ANHX 1 72438 1.38049E-5 36219 0 0.00452489
12-133804517-A-AGGGGGG p.Pro130_Pro131dup conservative_inframe_insertion ANHX 1 72450 1.38026E-5 36225 0 1.37137E-4
12-133804518-G-T p.Pro131Pro synonymous ANHX 25 73022 3.42363E-4 36511 1 0.001287
12-133804520-G-T p.Pro131Thr missense ANHX 2 72674 2.75202E-5 36337 0 NA
12-133804523-G-A p.Pro130Ser missense ANHX 3 71928 4.17084E-5 35964 0 6.58675E-5
12-133804524-C-CG p.Pro130fs frameshift ANHX 1 70596 1.41651E-5 35298 0 NA
12-133804525-G-A p.Pro129Leu missense ANHX 3 71730 4.18235E-5 35865 1 3.29337E-5
12-133804529-G-A p.Pro128Ser missense ANHX 1 72162 1.38577E-5 36081 0 3.25394E-5
12-133804530-G-A p.Asn127Asn synonymous ANHX 12 71966 1.66745E-4 35983 0 0.00164759
12-133808097-G-A c.377+6C>T splice_region ANHX 1 76114 1.31382E-5 38057 0 NA
12-133808098-G-A c.377+5C>T splice_region ANHX 2 76134 2.62695E-5 38067 0 NA
12-133808116-G-A p.Arg122Cys missense ANHX 1 76190 1.31251E-5 38095 0 7.43307E-6
12-133808117-G-C p.Phe121Leu missense ANHX 1 76196 1.3124E-5 38098 0 NA
12-133808126-C-T p.Val118Val synonymous ANHX 4 76196 5.24962E-5 38098 0 3.71581E-5
12-133808128-C-A p.Val118Leu missense ANHX 3 76180 3.93804E-5 38090 0 NA
12-133808128-C-G p.Val118Leu missense ANHX 2 76180 2.62536E-5 38090 0 2.97274E-5
12-133808129-C-T p.Pro117Pro synonymous ANHX 14664 75758 0.193564 37879 1630 0.23625
12-133808129-C-G p.Pro117Pro synonymous ANHX 1 76156 1.31309E-5 38078 0 NA
12-133808133-G-T p.Thr116Asn missense ANHX 1 76140 1.31337E-5 38070 0 NA
12-133808137-G-T p.Leu115Ile missense ANHX 1 76132 1.31351E-5 38066 0 NA
12-133808138-C-T p.Ala114Ala synonymous ANHX 2 76102 2.62805E-5 38051 0 7.43229E-6
12-133808139-G-A p.Ala114Val missense ANHX 670 76060 0.00880884 38030 16 0.0185103
12-133808147-G-A p.Gly111Gly synonymous ANHX 1 76024 1.31537E-5 38012 0 5.20129E-5
12-133808169-C-T p.Arg104His missense ANHX 23 75822 3.03342E-4 37911 0 6.25E-4
12-133808170-G-A p.Arg104Cys missense ANHX 1 75810 1.31909E-5 37905 0 1.4863E-5
12-133808174-G-A p.His102His synonymous ANHX 1 75738 1.32034E-5 37869 0 3.18613E-5
12-133808183-G-A p.Asn99Asn synonymous ANHX 7 75460 9.27644E-5 37730 0 8.296E-5
12-133808186-C-A p.Trp98Cys missense ANHX 1 75410 1.32608E-5 37705 0 NA
12-133808197-C-T p.Val95Met missense ANHX 39 74986 5.20097E-4 37493 1 0.00388601
12-133808204-C-T p.Gln92Gln synonymous ANHX 2 74656 2.67895E-5 37328 0 NA
12-133808208-C-T p.Ser91Asn missense ANHX 2 74318 2.69114E-5 37159 0 NA
12-133808224-G-C p.Gln86Glu missense ANHX 1 72540 1.37855E-5 36270 0 NA
12-133808225-G-A p.Cys85Cys synonymous ANHX 1 72212 1.38481E-5 36106 0 7.48895E-6
12-133808233-G-A c.250-3C>T splice_region ANHX 1 71498 1.39864E-5 35749 0 3.75212E-5
12-133810689-C-T c.249+5G>A splice_region ANHX 26 76126 3.41539E-4 38063 0 4.77142E-4
12-133810703-G-C p.Arg80Arg synonymous ANHX 13668 74704 0.182962 37352 1071 0.237767
12-133810704-C-T p.Arg80His missense ANHX 39 76328 5.10953E-4 38164 0 8.60366E-4
12-133810705-G-A p.Arg80Cys missense ANHX 3 76328 3.93041E-5 38164 0 6.26566E-4
12-133810707-C-G p.Cys79Ser missense ANHX 1 76338 1.30996E-5 38169 0 NA
12-133810710-G-A p.Ala78Val missense ANHX 5 76366 6.54742E-5 38183 0 1.56294E-4
12-133810712-C-T p.Ala77Ala synonymous ANHX 7 76378 9.16494E-5 38189 0 1.27429E-4
12-133810721-C-T p.Gln74Gln synonymous ANHX 1 76466 1.30777E-5 38233 0 1.48743E-5
12-133810729-G-T p.Gln72Lys missense ANHX 1 76490 1.30736E-5 38245 0 NA
12-133810733-G-C p.Asp70Glu missense ANHX 1 76504 1.30712E-5 38252 0 NA
12-133810743-C-T p.Arg67His missense ANHX 2 76538 2.61308E-5 38269 0 2.22952E-5
12-133810744-G-A p.Arg67Cys missense ANHX 1 76538 1.30654E-5 38269 0 1.48617E-5
12-133810745-G-T p.Ala66Ala synonymous ANHX 5 76542 6.53236E-5 38271 0 3.18634E-5
12-133810747-C-T p.Ala66Thr missense ANHX 1 76542 1.30647E-5 38271 0 3.18674E-5
12-133810751-C-T p.Ala64Ala synonymous ANHX 6 76552 7.83781E-5 38276 0 1.59307E-4
12-133810752-G-A p.Ala64Val missense ANHX 7 76544 9.14507E-5 38272 0 0.0025
12-133810764-T-C p.Asp60Gly missense ANHX 1 76568 1.30603E-5 38284 0 7.42953E-6
12-133810765-C-A p.Asp60Tyr missense ANHX 3 76566 3.91819E-5 38283 0 1.48595E-5
12-133810768-C-T p.Ala59Thr missense ANHX 7 76560 9.14316E-5 38280 0 2.97164E-5
12-133810769-G-A p.Asn58Asn synonymous ANHX 6 76566 7.83638E-5 38283 0 1.27372E-4
12-133810770-T-C p.Asn58Ser missense ANHX 1 76570 1.30599E-5 38285 0 NA
12-133810782-T-G p.His54Pro missense ANHX 3 76570 3.91798E-5 38285 0 7.42909E-6
12-133810783-G-A p.His54Tyr missense ANHX 1 76572 1.30596E-5 38286 0 NA
12-133810786-G-A p.Leu53Leu synonymous ANHX 2 76574 2.61185E-5 38287 0 NA
12-133810788-C-T p.Arg52His missense ANHX 9 76564 1.17549E-4 38282 0 1.62417E-4
12-133810789-G-A p.Arg52Cys missense ANHX 5 76568 6.53014E-5 38284 0 1.6239E-4
12-133810789-G-T p.Arg52Ser missense ANHX 1 76568 1.30603E-5 38284 0 NA
12-133810794-T-C p.Gln50Arg missense ANHX 96 76568 0.00125379 38284 0 0.00909091
12-133810802-C-T p.Leu47Leu synonymous ANHX 1 76570 1.30599E-5 38285 0 NA
12-133810810-C-T p.Ala45Thr missense ANHX 1 76564 1.3061E-5 38282 0 7.42986E-6
12-133810832-G-C p.Ala37Ala synonymous ANHX 1 76574 1.30593E-5 38287 0 NA
12-133810835-A-G p.Leu36Leu synonymous ANHX 5 76574 6.52963E-5 38287 0 9.5584E-5
12-133810838-G-A p.Asp35Asp synonymous ANHX 1 76576 1.30589E-5 38288 0 3.18552E-5
12-133810845-T-C p.Gln33Arg missense ANHX 1 76574 1.30593E-5 38287 0 NA
12-133810854-C-T p.Arg30Gln missense ANHX 2 76574 2.61185E-5 38287 0 0.00625
12-133810856-GCA-G p.Cys29fs frameshift ANHX 1 76566 1.30606E-5 38283 0 NA
12-133810861-G-C p.Leu28Val missense ANHX 1 76574 1.30593E-5 38287 0 NA
12-133810864-T-G p.Arg27Arg synonymous ANHX 1 76574 1.30593E-5 38287 0 3.18593E-5
12-133810866-C-G p.Gly26Ala missense ANHX 1 76568 1.30603E-5 38284 0 NA
12-133810867-C-T p.Gly26Ser missense ANHX 1 76570 1.30599E-5 38285 0 NA
12-133810868-C-G p.Ala25Ala synonymous ANHX 2 76570 2.61199E-5 38285 0 6.25E-4
12-133810868-C-T p.Ala25Ala synonymous ANHX 2 76570 2.61199E-5 38285 0 7.42953E-6
12-133810869-G-C p.Ala25Gly missense ANHX 4 76574 5.22371E-5 38287 0 8.9153E-5
12-133810874-G-A p.Thr23Thr synonymous ANHX 1 76566 1.30606E-5 38283 0 3.18715E-5
12-133810880-C-T p.Leu21Leu synonymous ANHX 420 76550 0.00548661 38275 8 0.0111515
12-133810883-C-T p.Glu20Glu synonymous ANHX 4 76560 5.22466E-5 38280 0 1.48602E-5
12-133810886-C-T p.Ala19Ala synonymous ANHX 6 76550 7.83801E-5 38275 0 1.27421E-4
12-133810887-G-A p.Ala19Val missense ANHX 1 76544 1.30644E-5 38272 0 3.18593E-5
12-133810890-G-A p.Pro18Leu missense ANHX 4 76548 5.22548E-5 38274 0 2.97265E-5
12-133810890-G-C p.Pro18Arg missense ANHX 1 76548 1.30637E-5 38274 0 3.18756E-5
12-133810894-G-A p.Pro17Ser missense ANHX 2 76554 2.61253E-5 38277 0 NA
12-133810902-G-A p.Thr14Ile missense ANHX 1 76530 1.30668E-5 38265 0 3.18735E-5
12-133810904-G-A p.Asp13Asp synonymous ANHX 3 76526 3.92024E-5 38263 0 3.18735E-5
12-133810910-A-G p.His11His synonymous ANHX 1 76514 1.30695E-5 38257 0 NA
12-133810911-T-C p.His11Arg missense ANHX 3 76510 3.92106E-5 38255 0 1.6488E-4
12-133810926-G-A p.Thr6Ile missense ANHX 63 76400 8.24607E-4 38200 0 0.001875
12-133810935-C-T p.Ser3Asn missense ANHX 452 76290 0.00592476 38145 1 0.00634121
12-133810937-C-G p.Gln2His missense ANHX 2 76282 2.62185E-5 38141 0 NA
12-133810962-A-G c.-20T>C splice_region ANHX 1 75600 1.32275E-5 37800 0 7.69965E-6
12-133810968-C-T c.-22-4G>A splice_region ANHX 1 75330 1.32749E-5 37665 0 7.81079E-6
12-133810970-A-G c.-22-6T>C splice_region ANHX 2 75274 2.65696E-5 37637 0 3.18634E-5
12-133810984-C-T c.-42G>A 5_prime_UTR_premature_start_codon_gain ANHX 3 74484 4.02771E-5 37242 0 1.32999E-4
12-133811006-C-A c.-64G>T 5_prime_UTR_premature_start_codon_gain ANHX 2 71846 2.78373E-5 35923 0 NA
12-133811058-C-T c.-116G>A 5_prime_UTR_premature_start_codon_gain ANHX 15 58640 2.55798E-4 29320 0 4.77737E-4
12-133811059-G-A c.-117C>T 5_prime_UTR_premature_start_codon_gain ANHX 6 58326 1.0287E-4 29163 0 3.18593E-5
12-133811071-G-A c.-129C>T 5_prime_UTR_premature_start_codon_gain ANHX 5 53324 9.37664E-5 26662 0 3.18573E-5
12-133811144-G-C c.-202C>G 5_prime_UTR_premature_start_codon_gain ANHX 1 27446 3.64352E-5 13723 0 NA
12-133811188-C-T c.-246G>A 5_prime_UTR_premature_start_codon_gain ANHX 5 18886 2.64746E-4 9443 0 NA
12-133811252-G-A c.-310C>T 5_prime_UTR_premature_start_codon_gain ANHX 1 10754 9.29887E-5 5377 0 NA
12-133811253-T-C c.-311A>G 5_prime_UTR_premature_start_codon_gain ANHX 61 10550 0.00578199 5275 0 0.0112811
12-133811258-T-C c.-316A>G 5_prime_UTR_premature_start_codon_gain ANHX 1 9930 1.00705E-4 4965 0 3.18817E-5
12-133811265-C-A c.-323G>T 5_prime_UTR_premature_start_codon_gain ANHX 2 7852 2.54712E-4 3926 0 1.27478E-4
12-133811285-G-A c.-343C>T 5_prime_UTR_premature_start_codon_gain ANHX 12 4656 0.00257732 2328 0 0.00226187
12-133811529-G-A c.-587C>T 5_prime_UTR_premature_start_codon_gain ANHX 5 154 0.0324675 77 0 0.0680224