Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-33988416-T-C p.Lys394Lys synonymous AMACR 1 82058 1.21865E-5 41029 0 3.18492E-5
5-33988421-G-C p.Gln393Glu missense AMACR 1 82078 1.21835E-5 41039 0 NA
5-33988422-G-A p.Ile392Ile synonymous AMACR 1 82058 1.21865E-5 41029 0 NA
5-33988424-T-C p.Ile392Val missense AMACR 1 82052 1.21874E-5 41026 0 NA
5-33988429-CTG-C p.His389fs frameshift AMACR 6 82074 7.31048E-5 41037 0 6.56901E-6
5-33988438-G-A p.Pro387Leu missense AMACR 2 82080 2.43665E-5 41040 0 6.36943E-5
5-33988441-T-C p.Tyr386Cys missense AMACR 5 82074 6.09206E-5 41037 0 0.00102249
5-33988442-A-G p.Tyr386His missense AMACR 1 82082 1.21829E-5 41041 0 5.0015E-5
5-33988445-A-C p.Leu385Val missense AMACR 270 82080 0.00328947 41040 3 0.00694356
5-33988455-C-G p.Lys381Asn missense AMACR 1 82064 1.21856E-5 41032 0 NA
5-33988459-C-A p.Ser380Ile missense AMACR 1 82012 1.21933E-5 41006 0 NA
5-33988468-T-C c.1132-2A>G splice_acceptor AMACR 2 81964 2.4401E-5 40982 0 NA
5-33988469-G-A c.1132-3C>T splice_region AMACR 1 81966 1.22002E-5 40983 0 5.03778E-5
5-33989204-A-G p.Ser381Ser synonymous AMACR 1 83318 1.20022E-5 41659 0 4.13654E-5
5-33989219-ATTAC-A p.Ser375fs frameshift AMACR 1 83334 1.19999E-5 41667 0 NA
5-33989224-T-C p.Ser375Gly missense AMACR 1 83348 1.19979E-5 41674 0 8.25587E-5
5-33989251-G-A p.Gln366* stop_gained AMACR 1 83376 1.19939E-5 41688 0 NA
5-33989264-G-A p.Arg361Arg synonymous AMACR 4 83380 4.79731E-5 41690 0 6.25E-4
5-33989265-C-T p.Arg361His missense AMACR 1 83378 1.19936E-5 41689 0 4.12201E-5
5-33989266-G-A p.Arg361Cys missense AMACR 1 83380 1.19933E-5 41690 0 3.97738E-6
5-33989296-C-T p.Glu351Lys missense AMACR 2 83390 2.39837E-5 41695 0 8.24131E-6
5-33989343-G-A p.Pro335Leu missense AMACR 1 83398 1.19907E-5 41699 0 NA
5-33989353-A-C p.Leu332Val missense AMACR 1 83400 1.19904E-5 41700 0 NA
5-33989370-C-T p.Arg326His missense AMACR 1 83386 1.19924E-5 41693 0 3.18735E-5
5-33989371-G-A p.Arg326Cys missense AMACR 1 83384 1.19927E-5 41692 0 1.64742E-5
5-33989372-G-A p.Pro325Pro synonymous AMACR 4 83382 4.7972E-5 41691 0 6.37146E-5
5-33989375-G-A p.Ser324Ser synonymous AMACR 4 83382 4.7972E-5 41691 0 1.19293E-5
5-33989380-C-T p.Val323Met missense AMACR 1 83388 1.19921E-5 41694 0 NA
5-33989382-T-A p.Asp322Val missense AMACR 2 83388 2.39843E-5 41694 0 4.37417E-5
5-33989403-A-T p.Phe315Tyr missense AMACR 2 83396 2.3982E-5 41698 0 6.37308E-5
5-33989408-G-A p.Gly313Gly synonymous AMACR 1 83396 1.1991E-5 41698 0 3.29478E-5
5-33989409-C-G p.Gly313Ala missense AMACR 2 83396 2.3982E-5 41698 0 NA
5-33989412-C-T p.Arg312Gln missense AMACR 1 83398 1.19907E-5 41699 0 1.64737E-5
5-33989413-G-A p.Arg312Trp missense AMACR 1 83396 1.1991E-5 41698 0 3.29484E-5
5-33989417-CTTG-C p.Asn309del disruptive_inframe_deletion AMACR 1 83392 1.19916E-5 41696 0 1.64737E-5
5-33989432-A-T p.His305Gln missense AMACR 1 83396 1.1991E-5 41698 0 NA
5-33989433-T-A p.His305Leu missense AMACR 2 83394 2.39825E-5 41697 0 NA
5-33989434-G-A p.His305Tyr missense AMACR 3 83390 3.59755E-5 41695 0 8.23696E-6
5-33989458-C-T p.Val297Ile missense AMACR 1 83382 1.1993E-5 41691 0 3.97627E-6
5-33989459-C-T p.Pro296Pro synonymous AMACR 1 83382 1.1993E-5 41691 0 NA
5-33989468-A-G p.Cys293Cys synonymous AMACR 1 83380 1.19933E-5 41690 0 NA
5-33989474-AT-CC p.Asp291Gly missense AMACR 1 83374 1.19941E-5 41687 0 NA
5-33989483-G-A p.Asp288Asp synonymous AMACR 2 83356 2.39935E-5 41678 0 0.00100705
5-33989486-A-C p.Phe287Leu missense AMACR 1 83358 1.19964E-5 41679 0 NA
5-33989489-GA-G p.Ile286fs frameshift AMACR 2 83360 2.39923E-5 41680 0 3.18532E-5
5-33989498-C-A p.Trp283Cys missense AMACR 1 83360 1.19962E-5 41680 0 NA
5-33989500-A-G p.Trp283Arg missense AMACR 1 83346 1.19982E-5 41673 0 NA
5-33989503-C-G p.Glu282Gln missense AMACR 23 83344 2.75965E-4 41672 0 6.87944E-4
5-33989504-T-C p.Ala281Ala synonymous AMACR 3 83342 3.59963E-5 41671 0 5.04032E-4
5-33989506-C-G p.Ala281Pro missense AMACR 2 83340 2.39981E-5 41670 0 1.19299E-5
5-33989510-C-T p.Thr279Thr synonymous AMACR 204 83338 0.00244786 41669 1 0.00907258
5-33989511-G-A p.Thr279Met missense AMACR 1 83334 1.19999E-5 41667 0 1.64747E-5
5-33989518-C-T p.Glu277Lys missense AMACR 59058 82032 0.719939 41016 21457 0.749856
5-33989538-TT-AA p.Lys270Leu missense AMACR 1 83282 1.20074E-5 41641 0 NA
5-33989553-G-A p.Pro265Leu missense AMACR 1 83194 1.20201E-5 41597 0 3.9788E-6
5-33989562-T-C p.Asp262Gly missense AMACR 1 83106 1.20328E-5 41553 0 6.36821E-5
5-33989564-C-T p.Met261Ile missense AMACR 32 83120 3.84986E-4 41560 0 0.00100806
5-33989565-A-G p.Met261Thr missense AMACR 415 83090 0.00499458 41545 5 0.0118145
5-33989577-T-C p.Asn257Ser missense AMACR 2 82978 2.41028E-5 41489 0 3.18431E-5
5-33989582-A-G p.Leu255Leu synonymous AMACR 1 82912 1.2061E-5 41456 0 NA
5-33989608-CTGAGG-C c.740-6_740-2delCCTCA splice_acceptor AMACR 2 82228 2.43226E-5 41114 0 3.18776E-5
5-33989611-AG-A c.740-5delC splice_region AMACR 1 81994 1.2196E-5 40997 0 3.1837E-5
5-33989612-G-C c.740-5C>G splice_region AMACR 2 81926 2.44123E-5 40963 0 8.56399E-6
5-33989613-G-A c.740-6C>T splice_region AMACR 2 81846 2.44361E-5 40923 0 NA
5-33994116-A-T p.Ter230Lysext*? stop_lost AMACR 4899 9380 0.522281 4690 1303 0.520627
5-33994142-C-T p.Arg221His missense AMACR 2 9538 2.09688E-4 4769 0 6.25E-4
5-33994182-T-C n.633+1A>G splice_donor AMACR 323 9522 0.0339214 4761 15 0.143338
5-33994199-T-C p.Tyr202Cys missense AMACR 1 9544 1.04778E-4 4772 0 NA
5-33997112-A-T c.*384T>A splice_region AMACR 3 46080 6.51042E-5 23040 0 3.26392E-5
5-33997358-A-G p.Ter282Glnext*? stop_lost AMACR 1 59198 1.68925E-5 29599 0 NA
5-33997365-C-T p.Pro279Pro synonymous AMACR 1 59182 1.6897E-5 29591 0 6.37105E-5
5-33997366-G-A p.Pro279Leu missense AMACR 2 59184 3.37929E-5 29592 0 6.77117E-5
5-33997367-G-A p.Pro279Ser missense AMACR 1 59184 1.68965E-5 29592 0 NA
5-33997373-C-T p.Gly277Arg missense AMACR 1 59168 1.6901E-5 29584 0 9.28113E-5
5-33997378-T-C p.Asn275Ser missense AMACR 1 59170 1.69005E-5 29585 0 NA
5-33997380-T-C p.Lys260Glu missense AMACR 1 59160 1.69033E-5 29580 0 4.11519E-6
5-33997408-C-A p.Gly265Val missense AMACR 2 59134 3.38215E-5 29567 0 NA
5-33997415-C-G p.Ala263Pro missense AMACR 1 59134 1.69107E-5 29567 0 NA
5-33997423-G-A p.Thr260Ile missense AMACR 7 59134 1.18375E-4 29567 0 0.00125
5-33997425-G-A c.740-7C>T splice_region AMACR 1 59134 1.69107E-5 29567 0 8.18424E-6
5-33997446-C-T p.Met252Ile missense AMACR 6 59108 1.01509E-4 29554 0 3.18492E-5
5-33997461-A-T p.Asp247Glu missense AMACR 1 59084 1.69251E-5 29542 0 NA
5-33997482-G-A p.Gly240Gly synonymous AMACR 1 59072 1.69285E-5 29536 0 3.1839E-5
5-33997484-C-T p.Gly240Ser missense AMACR 2 59078 3.38536E-5 29539 0 1.68183E-5
5-33997485-G-A p.Gly239Gly synonymous AMACR 2 59078 3.38536E-5 29539 0 1.68183E-5
5-33997493-C-A p.Val237Phe missense AMACR 1 59082 1.69256E-5 29541 0 NA
5-33997494-G-A p.Thr236Thr synonymous AMACR 4 59086 6.76979E-5 29543 0 3.1839E-5
5-33997500-T-C p.Gln288Arg missense AMACR 3 59094 5.07666E-5 29547 0 0.00125
5-33997507-C-G p.Cys232Ser missense AMACR 8 59108 1.35345E-4 29554 0 1.2734E-4
5-33997533-G-A p.Ser277Leu missense AMACR 1 59098 1.6921E-5 29549 0 5.03508E-5
5-33997541-T-C p.Met221Val missense AMACR 10 59106 1.69188E-4 29553 0 4.13855E-4
5-33997555-C-T p.Arg216His missense AMACR 2 59096 3.38432E-5 29548 0 2.43044E-4
5-33997556-G-A p.Arg216Cys missense AMACR 4 59096 6.76865E-5 29548 0 6.25E-4
5-33997558-G-A p.Pro215Leu missense AMACR 2 59102 3.38398E-5 29551 0 6.25E-4
5-33997570-C-T p.Gly211Asp missense AMACR 1 59124 1.69136E-5 29562 0 NA
5-33997571-C-T p.Gly211Ser missense AMACR 1 59120 1.69147E-5 29560 0 6.36699E-5
5-33997582-C-T p.Ser207Asn missense AMACR 1 59178 1.68982E-5 29589 0 NA
5-33997592-T-C p.Thr204Ala missense AMACR 2 59244 3.37587E-5 29622 0 1.60344E-5
5-33997598-T-C p.Asn202Asp missense AMACR 1 59272 1.68714E-5 29636 0 NA
5-33997598-T-A p.Asn202Tyr missense AMACR 2 59272 3.37427E-5 29636 0 1.60233E-5
5-33997621-G-C p.Ser194Cys missense+splice_region AMACR 1 59726 1.67431E-5 29863 0 NA
5-33997626-G-A c.579-3C>T splice_region AMACR 1 59828 1.67146E-5 29914 0 3.1841E-5
5-33997630-A-G c.579-7T>C splice_region AMACR 6 59950 1.00083E-4 29975 0 7.00369E-4
5-33998755-G-A p.Ala190Val missense AMACR 1 83364 1.19956E-5 41682 0 4.01513E-6
5-33998761-C-T p.Glu242Lys missense AMACR 1 83380 1.19933E-5 41690 0 8.31753E-6
5-33998767-A-C p.Phe240Val missense AMACR 1 83378 1.19936E-5 41689 0 NA
5-33998768-C-A p.Gln239His missense AMACR 10271 83050 0.123672 41525 626 0.183125
5-33998771-G-C p.Pro185Ala missense AMACR 2 83376 2.39877E-5 41688 0 3.18634E-5
5-33998773-G-A p.Pro238Ser missense AMACR 942 83356 0.0113009 41678 46 0.0240342
5-33998781-G-A p.Ala235Val missense AMACR 1 83384 1.19927E-5 41692 0 3.98352E-6
5-33998796-A-T p.Phe230Tyr missense AMACR 7 83380 8.3953E-5 41690 0 4.94576E-5
5-33998804-A-G p.Trp174Arg missense AMACR 3 83384 3.59781E-5 41692 0 3.18613E-5
5-33998820-G-A p.Thr222Ile missense AMACR 1 83374 1.19941E-5 41687 0 NA
5-33998823-G-A p.Thr221Met missense AMACR 12 83370 1.43937E-4 41685 0 5.03525E-4
5-33998844-T-C p.Asp214Gly missense AMACR 1 83342 1.19988E-5 41671 0 NA
5-33998850-A-G p.Met212Thr missense AMACR 4 83346 4.79927E-5 41673 0 2.38603E-5
5-33998852-G-C p.Asn211Lys missense AMACR 1 83344 1.19985E-5 41672 0 3.97674E-6
5-33998858-T-A p.Thr156Ser missense AMACR 3 83334 3.59997E-5 41667 1 NA
5-33998860-C-G p.Gly209Arg missense AMACR 6 83332 7.20012E-5 41666 0 1.98836E-5
5-33998862-C-A p.Arg208Leu missense AMACR 1 83338 1.19993E-5 41669 0 3.18451E-5
5-33998866-G-A p.Pro207Ser missense AMACR 1 83324 1.20013E-5 41662 0 8.23696E-6
5-33998868-G-A p.Ala206Val missense AMACR 1 83320 1.20019E-5 41660 0 7.95355E-6
5-33998882-C-T p.Glu148Lys missense AMACR 10 83318 1.20022E-4 41659 0 0.00130598
5-33998882-CA-TG p.Leu201Ser missense AMACR 3 83318 3.60066E-5 41659 0 NA
5-33998883-A-G p.Leu201Ser missense AMACR 59053 82700 0.714063 41350 21223 0.73966
5-33998883-A-C p.Leu201Trp missense AMACR 2 83318 2.40044E-5 41659 0 1.64772E-5
5-33998910-C-T p.Ser192Asn missense AMACR 1 83276 1.20083E-5 41638 0 NA
5-33998919-G-T p.Ala189Glu missense AMACR 4 83248 4.80492E-5 41624 0 3.29984E-5
5-33998930-C-T p.Gly132Arg missense+splice_region AMACR 2 83204 2.40373E-5 41602 0 3.1839E-5
5-33998931-A-G p.Val185Ala missense+splice_region AMACR 75 83190 9.01551E-4 41595 0 9.46977E-4
5-33998933-C-CATA c.553-2_553-1insTAT splice_acceptor AMACR 2 83190 2.40414E-5 41595 0 NA
5-33998933-C-CA c.553-2_553-1insT splice_acceptor AMACR 1 83190 1.20207E-5 41595 0 NA
5-34004690-C-A p.Asp181Tyr missense AMACR 2 83360 2.39923E-5 41680 0 3.97703E-6
5-34004693-T-C p.Ile180Val missense AMACR 3 83364 3.59868E-5 41682 0 3.18451E-5
5-34004707-C-T p.Gly175Asp missense AMACR 35837 82668 0.433505 41334 8566 0.41963
5-34004713-C-T p.Arg173His missense AMACR 6 83378 7.19614E-5 41689 0 5.96459E-5
5-34004714-G-A p.Arg173Cys missense AMACR 3 83382 3.5979E-5 41691 0 3.18735E-5
5-34004720-G-A p.Arg171Cys missense AMACR 3 83382 3.5979E-5 41691 0 6.25E-4
5-34004729-G-C p.Leu168Val missense AMACR 1 83404 1.19898E-5 41702 0 NA
5-34004735-T-C p.Met166Val missense AMACR 1 83410 1.1989E-5 41705 0 1.19289E-5
5-34004772-A-G p.Phe153Phe synonymous AMACR 3 83426 3.596E-5 41713 0 6.3678E-5
5-34004778-A-G p.Ala151Ala synonymous AMACR 1 83422 1.19872E-5 41711 0 NA
5-34004793-C-T p.Pro146Pro synonymous AMACR 11 83422 1.3186E-4 41711 0 0.00125
5-34004802-C-T p.Pro143Pro synonymous AMACR 6 83406 7.19373E-5 41703 0 0.00100705
5-34004810-C-T p.Glu141Lys missense AMACR 2 83402 2.39802E-5 41701 0 NA
5-34004821-C-T p.Gly137Asp missense AMACR 1 83400 1.19904E-5 41700 0 4.37449E-5
5-34004839-C-A p.Gly131Val missense+splice_region AMACR 1 83372 1.19944E-5 41686 0 8.30882E-6
5-34004840-C-T c.392-1G>A splice_acceptor AMACR 1 83368 1.1995E-5 41684 0 NA
5-34004841-T-TGACAAAGCCAAATAGTTGATATCGTGGCCAGCTA c.392-3_392-2insTAGCTGGCCACGATATCAACTATTTGGCTTTGTC splice_region AMACR 2 83370 2.39894E-5 41685 1 NA
5-34004841-T-TGACAAAGCCAAATAGTTGATATCGTGGCCAGCTAACCGGCAGAAGCTTCCTG c.392-3_392-2insCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTC splice_region AMACR 2 83370 2.39894E-5 41685 1 NA
5-34004843-C-T c.392-4G>A splice_region AMACR 2 83346 2.39964E-5 41673 0 NA
5-34005885-C-T p.Asp123Asn missense AMACR 1 83384 1.19927E-5 41692 0 3.58203E-5
5-34005899-C-T p.Arg118Gln missense AMACR 1193 83374 0.014309 41687 58 0.0289393
5-34005900-G-A p.Arg118Trp missense AMACR 1 83382 1.1993E-5 41691 0 2.78507E-5
5-34005907-G-A p.Ser115Ser synonymous AMACR 1 83386 1.19924E-5 41693 0 8.2791E-6
5-34005923-A-T p.Phe110Tyr missense AMACR 1 83400 1.19904E-5 41700 0 NA
5-34005929-C-G p.Ser108Thr missense AMACR 2 83398 2.39814E-5 41699 0 3.97741E-6
5-34005933-G-T p.Leu107Met missense AMACR 1 83392 1.19916E-5 41696 0 3.18634E-5
5-34005950-C-T p.Arg101Lys missense AMACR 2 83386 2.39848E-5 41693 0 NA
5-34005954-G-T p.Pro100Thr missense AMACR 1 83384 1.19927E-5 41692 0 NA
5-34005962-C-G p.Arg97Pro missense AMACR 14 83384 1.67898E-4 41692 0 1.07393E-4
5-34005963-G-A p.Arg97Trp missense AMACR 2 83382 2.3986E-5 41691 0 3.18695E-5
5-34005963-G-T p.Arg97Arg synonymous AMACR 8 83382 9.5944E-5 41691 0 3.97763E-5
5-34005969-G-C p.Leu95Val missense AMACR 1 83384 1.19927E-5 41692 0 NA
5-34005987-G-A p.Gln89* stop_gained AMACR 2 83376 2.39877E-5 41688 0 3.18532E-5
5-34005988-G-T p.Leu88Leu synonymous AMACR 1 83376 1.19939E-5 41688 0 NA
5-34005988-GAGTTTCTCC-G p.Met85_Leu88delinsIle disruptive_inframe_deletion AMACR 2 83376 2.39877E-5 41688 0 NA
5-34005999-T-C p.Met85Val missense AMACR 1 83370 1.19947E-5 41685 0 8.29064E-6
5-34006004-C-T p.Gly83Asp missense+splice_region AMACR 2 83360 2.39923E-5 41680 0 NA
5-34006006-T-C c.248-2A>G splice_acceptor AMACR 1 83344 1.19985E-5 41672 0 NA
5-34006008-A-G c.248-4T>C splice_region AMACR 1 83350 1.19976E-5 41675 0 1.27413E-4
5-34006011-A-G c.248-7T>C splice_region AMACR 2 83340 2.39981E-5 41670 0 3.18451E-5
5-34007870-G-C c.247+8C>G splice_region AMACR 10 43454 2.30128E-4 21727 0 3.20616E-4
5-34007878-C-A p.Gly83Cys missense+splice_region AMACR 1 44298 2.25744E-5 22149 0 NA
5-34007882-G-A p.Arg81Arg synonymous AMACR 1 44608 2.24175E-5 22304 0 6.68092E-5
5-34007890-G-C p.Pro79Ala missense AMACR 1 46164 2.16619E-5 23082 0 NA
5-34007903-A-C p.Asp74Glu missense AMACR 1 47868 2.08908E-5 23934 0 NA
5-34007921-A-T p.Arg68Arg synonymous AMACR 3 49454 6.06624E-5 24727 0 NA
5-34007926-G-A p.Arg67Trp missense AMACR 1 49746 2.01021E-5 24873 0 NA
5-34007927-C-G p.Leu66Leu synonymous AMACR 1 49944 2.00224E-5 24972 0 NA
5-34007942-C-T p.Arg61Arg synonymous AMACR 3 50756 5.91063E-5 25378 0 1.12054E-5
5-34007942-CC-GG p.Arg61Pro missense AMACR 1 50756 1.97021E-5 25378 0 NA
5-34007943-C-G p.Arg61Pro missense AMACR 6 50716 1.18306E-4 25358 0 1.75328E-4
5-34007957-G-A p.Asp56Asp synonymous AMACR 1 51910 1.92641E-5 25955 0 NA
5-34007971-A-G p.Ser52Pro missense AMACR 13 52904 2.45728E-4 26452 0 5.96141E-4
5-34007977-T-G p.Lys50Gln missense AMACR 2 53364 3.74785E-5 26682 0 NA
5-34007997-AC-CT p.Val43Arg missense AMACR 4 53850 7.42804E-5 26925 0 NA
5-34007997-A-C p.Val43Gly missense AMACR 1 53850 1.85701E-5 26925 0 9.5761E-5
5-34007998-C-T p.Val43Met missense AMACR 1 53798 1.85881E-5 26899 0 9.56999E-5
5-34008002-G-C p.Tyr41* stop_gained AMACR 2 54094 3.69727E-5 27047 0 NA
5-34008004-A-G p.Tyr41His missense AMACR 1 54290 1.84196E-5 27145 0 NA
5-34008006-C-G p.Arg40Pro missense AMACR 1 54092 1.8487E-5 27046 0 1.65788E-5
5-34008016-G-T p.Pro37Thr missense AMACR 18 54598 3.29682E-4 27299 0 0.00101626
5-34008035-A-C p.Arg30Arg synonymous AMACR 3 55398 5.41536E-5 27699 0 1.0728E-5
5-34008039-G-C p.Ala29Gly missense AMACR 2 55152 3.62634E-5 27576 0 1.72065E-5
5-34008066-C-T p.Cys20Tyr missense AMACR 1 54498 1.83493E-5 27249 0 5.04032E-4
5-34008077-C-T p.Pro16Pro synonymous AMACR 1 52604 1.901E-5 26302 0 2.1161E-5
5-34008082-C-T p.Ala15Thr missense AMACR 1 51924 1.92589E-5 25962 0 8.45594E-6
5-34008088-C-G p.Gly13Arg missense AMACR 1 51236 1.95175E-5 25618 0 5.42437E-5
5-34008093-A-G p.Leu11Pro missense AMACR 1 50536 1.97879E-5 25268 0 NA
5-34008094-G-C p.Leu11Val missense AMACR 1 50340 1.98649E-5 25170 0 NA
5-34008095-C-G p.Glu10Asp missense AMACR 1 50148 1.9941E-5 25074 0 NA
5-34008098-CAC-TAT p.Val9Ile missense AMACR 1 49948 2.00208E-5 24974 0 NA
5-34008100-C-T p.Val9Met missense AMACR 21614 48526 0.445411 24263 5242 0.424125
5-34008112-C-T p.Gly5Ser missense AMACR 1 47706 2.09617E-5 23853 0 4.22976E-6
5-34008121-C-T p.Ala2Thr missense AMACR 1 46350 2.1575E-5 23175 0 NA
5-34008146-G-C c.-22C>G 5_prime_UTR_premature_start_codon_gain AMACR 87 42950 0.00202561 21475 0 0.00563204