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Gene: ACSM2A

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Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-20471442-T-C c.-590T>C 5_prime_UTR_premature_start_codon_gain ACSM2A 77 79400 9.69773E-4 39700 0 0.00213498
16-20471448-G-A p.Leu4Leu synonymous ACSM2A 7 79404 8.81568E-5 39702 0 1.59357E-4
16-20471449-C-T p.Arg5* stop_gained ACSM2A 5 79406 6.29675E-5 39703 0 1.85282E-4
16-20471450-G-A p.Arg5Gln missense ACSM2A 8121 75852 0.107064 37926 496 0.156464
16-20471455-G-A p.Val7Ile missense ACSM2A 18 79392 2.26723E-4 39696 0 3.18654E-4
16-20471455-G-T p.Val7Phe missense ACSM2A 1 79398 1.25948E-5 39699 0 NA
16-20471457-T-C p.Val7Val synonymous ACSM2A 22 79382 2.77141E-4 39691 1 4.14329E-4
16-20471461-G-A p.Gly9Arg missense ACSM2A 1 79370 1.25992E-5 39685 0 6.69266E-5
16-20471480-G-T p.Gly15Val missense ACSM2A 1 79216 1.26237E-5 39608 0 NA
16-20471483-C-G p.Thr16Ser missense ACSM2A 2 79176 2.52602E-5 39588 0 8.36568E-6
16-20471487-G-C p.Gln17His missense ACSM2A 567 79006 0.00717667 39503 18 0.0161301
16-20471493-C-T p.Ser19Ser synonymous ACSM2A 3 79076 3.79382E-5 39538 0 4.01445E-6
16-20471498-G-A p.Arg21His missense ACSM2A 2 78904 2.53473E-5 39452 0 5.04058E-5
16-20471506-T-C p.Tyr24His missense ACSM2A 19 78682 2.41478E-4 39341 0 8.41354E-4
16-20471508-C-G p.Tyr24* stop_gained ACSM2A 12 78628 1.52617E-4 39314 0 2.27242E-4
16-20471524-C-T c.-508C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 1 78074 1.28084E-5 39037 0 8.45351E-6
16-20471543-GCCAC-G p.His37fs frameshift ACSM2A 1 78354 1.27626E-5 39177 0 NA
16-20471543-GCCA-G p.His37del disruptive_inframe_deletion ACSM2A 5 78352 6.38146E-5 39176 0 3.18654E-5
16-20471545-C-T p.His37Tyr missense ACSM2A 1 78454 1.27463E-5 39227 0 8.0601E-6
16-20471556-G-T p.Val40Val synonymous ACSM2A 18 78900 2.28137E-4 39450 0 0.00243902
16-20471558-C-A p.Pro41Gln missense ACSM2A 1 79014 1.2656E-5 39507 0 4.41129E-5
16-20471559-G-A p.Pro41Pro synonymous ACSM2A 2 79050 2.53004E-5 39525 0 3.18573E-5
16-20471559-G-C p.Pro41Pro synonymous ACSM2A 2 79048 2.53011E-5 39524 0 2.40527E-5
16-20471568-T-C p.Phe44Phe synonymous ACSM2A 90 79140 0.00113723 39570 2 0.00910194
16-20471591-A-G p.Asp52Gly missense ACSM2A 2 79342 2.52073E-5 39671 0 8.33931E-6
16-20471595-C-T c.-437C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 1 79348 1.26027E-5 39674 0 6.78134E-5
16-20471605-A-G p.Met57Val missense ACSM2A 5 79352 6.30104E-5 39676 0 5.96659E-4
16-20476833-C-G c.178-6C>G splice_region ACSM2A 1 79416 1.25919E-5 39708 0 1.19665E-5
16-20476836-C-T c.178-3C>T splice_region ACSM2A 9 79422 1.13319E-4 39711 0 0.00438596
16-20476840-C-T p.Ala60Val missense+splice_region ACSM2A 47 79432 5.91701E-4 39716 0 3.18492E-4
16-20476848-C-A p.Arg63Arg synonymous ACSM2A 7 79428 8.81301E-5 39714 0 1.59286E-4
16-20476848-C-T p.Arg63* stop_gained ACSM2A 1 79430 1.25897E-5 39715 0 5.82072E-4
16-20476850-A-T p.Arg63Arg synonymous ACSM2A 1 79444 1.25875E-5 39722 0 NA
16-20476851-C-T p.Leu64Phe missense ACSM2A 3 79448 3.77605E-5 39724 0 0.00173812
16-20476852-T-C p.Leu64Pro missense ACSM2A 24680 75884 0.325233 37942 4342 0.393819
16-20476862-A-C p.Pro67Pro synonymous ACSM2A 2 79492 2.51598E-5 39746 0 NA
16-20476889-G-A p.Gly76Gly synonymous ACSM2A 38 79458 4.7824E-4 39729 0 8.60092E-4
16-20476893-G-A p.Glu78Lys missense ACSM2A 1560 79290 0.0196746 39645 14 0.0325
16-20476900-T-G p.Met1? start_lost ACSM2A 1 79458 1.25853E-5 39729 0 NA
16-20476905-A-C p.Asn82His missense ACSM2A 1 79462 1.25846E-5 39731 0 NA
16-20476912-G-A p.Arg84Lys missense ACSM2A 17 79468 2.13923E-4 39734 0 7.96267E-6
16-20476914-G-C p.Glu85Gln missense ACSM2A 17 79454 2.1396E-4 39727 0 NA
16-20476917-C-A p.Leu86Met missense ACSM2A 1 79466 1.2584E-5 39733 0 3.29587E-5
16-20476935-C-T p.Gln92* stop_gained ACSM2A 1 79478 1.25821E-5 39739 0 NA
16-20476938-G-A p.Ala93Thr missense ACSM2A 23 79482 2.89374E-4 39741 0 3.18451E-4
16-20476946-C-T c.-311C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 1 79504 1.2578E-5 39752 0 5.64972E-4
16-20476947-G-A p.Val96Ile missense ACSM2A 2 79498 2.51579E-5 39749 0 0.0011325
16-20476954-C-A p.Ser98* stop_gained ACSM2A 2 79484 2.51623E-5 39742 0 3.98168E-6
16-20476954-C-T p.Ser98Leu missense ACSM2A 4 79484 5.03246E-5 39742 0 6.25E-4
16-20476955-G-A p.Ser98Ser synonymous ACSM2A 2 79482 2.51629E-5 39741 0 4.11963E-5
16-20476956-G-C p.Gly99Arg missense ACSM2A 2 79486 2.51617E-5 39743 0 5.67537E-4
16-20476960-C-T p.Ala100Val missense ACSM2A 16 79490 2.01283E-4 39745 0 0.00125
16-20476974-C-T p.Arg105Cys missense ACSM2A 214 79436 0.00269399 39718 0 0.00586062
16-20476975-G-A p.Arg105His missense ACSM2A 1 79454 1.25859E-5 39727 0 1.11487E-4
16-20476983-C-A p.Arg108Ser missense ACSM2A 6 79444 7.55249E-5 39722 0 9.07142E-5
16-20476983-C-T p.Arg108Cys missense ACSM2A 2 79444 2.5175E-5 39722 0 3.2987E-5
16-20476984-G-C p.Arg108Pro missense ACSM2A 14 79436 1.76243E-4 39718 0 6.37024E-4
16-20476988-G-A p.Val109Val synonymous ACSM2A 1 79448 1.25868E-5 39724 0 8.24906E-6
16-20476995-G-A p.Val112Met missense ACSM2A 21 78870 2.66261E-4 39435 0 0.36375
16-20477002-C-T p.Pro114Leu missense ACSM2A 5 79402 6.29707E-5 39701 0 7.96559E-6
16-20477004-C-T p.Arg115* stop_gained ACSM2A 934 79308 0.0117769 39654 39 0.0260426
16-20477005-G-A p.Arg115Gln missense ACSM2A 6 79390 7.55763E-5 39695 0 2.22987E-4
16-20477007-G-C p.Val116Leu missense ACSM2A 2 79390 2.51921E-5 39695 0 3.98286E-6
16-20477019-TGGCTGGTGATCCTG-T p.Val122fs frameshift ACSM2A 3 79332 3.78158E-5 39666 0 NA
16-20477021-G-A p.Trp120* stop_gained ACSM2A 334 79280 0.00421292 39640 1 0.00519009
16-20477026-T-C p.Val122Ala missense ACSM2A 1 79244 1.26193E-5 39622 0 NA
16-20477029-T-A p.Ile123Asn missense ACSM2A 1 79230 1.26215E-5 39615 0 1.67367E-5
16-20477036-C-T c.-221C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 2 79152 2.52678E-5 39576 0 3.98998E-6
16-20477043-C-T p.Arg128* stop_gained ACSM2A 3 79120 3.79171E-5 39560 0 3.19652E-5
16-20477049-G-A p.Gly130Ser missense+splice_region ACSM2A 1 79070 1.2647E-5 39535 0 3.18532E-5
16-20477053-G-A c.388+4G>A splice_region ACSM2A 2 79042 2.5303E-5 39521 0 NA
16-20480827-TC-T c.389-6delC splice_region ACSM2A 2 79310 2.52175E-5 39655 0 8.28295E-6
16-20480837-T-C p.Leu131Pro missense ACSM2A 1 79308 1.26091E-5 39654 0 NA
16-20480863-A-T p.Met140Leu missense ACSM2A 3 79328 3.78177E-5 39664 0 3.18512E-5
16-20480870-C-T p.Ser142Phe missense ACSM2A 1 79308 1.26091E-5 39654 0 8.28514E-6
16-20480883-G-T p.Leu146Leu synonymous ACSM2A 1 79304 1.26097E-5 39652 0 3.98756E-6
16-20480886-T-C p.Tyr147Tyr synonymous ACSM2A 2 79306 2.52188E-5 39653 0 NA
16-20480894-A-T p.Gln150Leu missense ACSM2A 1 79278 1.26138E-5 39639 0 NA
16-20480905-G-A p.Ala154Thr missense ACSM2A 1 79274 1.26145E-5 39637 0 NA
16-20480922-T-C p.Ala159Ala synonymous ACSM2A 2 79340 2.5208E-5 39670 0 3.18451E-5
16-20480924-G-A p.Gly160Glu missense ACSM2A 1 79348 1.26027E-5 39674 0 3.18552E-5
16-20480942-A-G p.Glu166Gly missense ACSM2A 1 79402 1.25941E-5 39701 0 8.23913E-6
16-20480944-G-A p.Val167Met missense ACSM2A 4 79404 5.03753E-5 39702 0 1.07509E-4
16-20480953-G-A p.Val170Met missense ACSM2A 1 79430 1.25897E-5 39715 0 8.23737E-6
16-20480956-G-A p.Ala171Thr missense ACSM2A 6 79440 7.55287E-5 39720 0 3.58352E-5
16-20480960-C-T p.Ser172Phe missense ACSM2A 1 79456 1.25856E-5 39728 0 NA
16-20480964-A-C p.Glu173Asp missense ACSM2A 1 79456 1.25856E-5 39728 0 1.47321E-4
16-20480966-G-A p.Cys174Tyr missense ACSM2A 3 79468 3.7751E-5 39734 0 3.2649E-4
16-20480968-C-T p.Pro175Ser missense ACSM2A 2 79474 2.51655E-5 39737 0 7.16686E-5
16-20480978-G-T p.Arg178Ile missense ACSM2A 1 79488 1.25805E-5 39744 0 3.18512E-5
16-20480984-A-G p.Lys180Arg missense ACSM2A 1 79498 1.25789E-5 39749 0 3.18532E-5
16-20480988-A-G c.-53A>G 5_prime_UTR_premature_start_codon_gain ACSM2A 1 79492 1.25799E-5 39746 0 NA
16-20481004-A-T p.Ser187Cys missense ACSM2A 1 79518 1.25758E-5 39759 0 NA
16-20481005-G-T p.Ser187Ile missense ACSM2A 1 79516 1.25761E-5 39758 0 5.76549E-5
16-20481006-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 1 79524 1.25748E-5 39762 0 NA
16-20481008-G-A p.Cys188Tyr missense ACSM2A 2 79526 2.5149E-5 39763 0 5.76549E-5
16-20481009-T-C p.Cys188Cys synonymous ACSM2A 60 79446 7.5523E-4 39723 0 3.37749E-4
16-20481011-A-G p.Asp189Gly missense ACSM2A 1 79526 1.25745E-5 39763 0 8.23642E-6
16-20481012-T-C p.Asp189Asp synonymous ACSM2A 35 79524 4.40119E-4 39762 0 3.14548E-4
16-20481014-G-C p.Gly190Ala missense ACSM2A 1 79520 1.25755E-5 39760 0 1.64731E-5
16-20481018-G-T p.Trp191Cys missense ACSM2A 1 79518 1.25758E-5 39759 0 NA
16-20481021-G-A p.Leu192Leu synonymous ACSM2A 1 79518 1.25758E-5 39759 0 NA
16-20481027-C-G p.Phe194Leu missense ACSM2A 6 79504 7.54679E-5 39752 0 6.37674E-5
16-20481039-A-G c.-2A>G 5_prime_UTR_premature_start_codon_gain ACSM2A 1 79482 1.25815E-5 39741 0 NA
16-20481042-G-A c.596+1G>A splice_donor ACSM2A 3 79484 3.77434E-5 39742 0 1.40054E-4
16-20481045-A-G c.596+4A>G splice_region ACSM2A 1 79484 1.25811E-5 39742 0 NA
16-20481049-T-A c.596+8T>A splice_region ACSM2A 1 79488 1.25805E-5 39744 0 4.12031E-5
16-20482133-T-C c.597-5T>C splice_region ACSM2A 10 30572 3.27097E-4 15286 0 0.00114628
16-20482143-A-G p.Lys201Arg missense ACSM2A 1 34932 2.8627E-5 17466 0 NA
16-20482153-C-G p.His204Gln missense ACSM2A 211 39822 0.00529858 19911 0 0.0103224
16-20482157-G-C p.Asp206His missense ACSM2A 1 41886 2.38743E-5 20943 0 4.51957E-5
16-20482158-A-T p.Asp206Val missense ACSM2A 3 42320 7.08885E-5 21160 0 2.2589E-4
16-20482159-C-A p.Asp206Glu missense ACSM2A 18 42762 4.20934E-4 21381 1 0.00124228
16-20482159-C-T p.Asp206Asp synonymous ACSM2A 1 42764 2.33842E-5 21382 0 0.00125078
16-20482160-G-A p.Val207Ile missense ACSM2A 2 43320 4.61681E-5 21660 0 8.5034E-5
16-20482281-G-T c.*112+1G>T splice_donor ACSM2A 2 72072 2.775E-5 36036 0 3.1835E-5
16-20482283-G-A c.*112+3G>A splice_region ACSM2A 1 72430 1.38064E-5 36215 0 NA
16-20482288-C-A c.*112+8C>A splice_region ACSM2A 1 73194 1.36623E-5 36597 0 NA
16-20482388-C-T c.597-7C>T splice_region ACSM2A 9 80166 1.12267E-4 40083 0 7.44306E-5
16-20482400-C-G p.Ala201Gly missense ACSM2A 20 80312 2.49029E-4 40156 0 1.51577E-4
16-20482408-A-G p.Thr204Ala missense ACSM2A 1 80446 1.24307E-5 40223 0 NA
16-20482412-A-T p.His205Leu missense ACSM2A 1 80474 1.24264E-5 40237 0 3.18492E-5
16-20482415-A-G p.His206Arg missense ACSM2A 1 80504 1.24217E-5 40252 0 NA
16-20482420-G-A p.Val208Met missense ACSM2A 1 80518 1.24196E-5 40259 0 8.27198E-6
16-20482421-T-A p.Val208Glu missense ACSM2A 1 80516 1.24199E-5 40258 0 3.18552E-5
16-20482422-G-A p.Trp10* stop_gained ACSM2A 1 80530 1.24177E-5 40265 0 NA
16-20482423-G-A p.Trp10* stop_gained ACSM2A 1 80522 1.2419E-5 40261 0 3.98695E-6
16-20482432-A-G p.Ser212Gly missense ACSM2A 1 80606 1.2406E-5 40303 0 1.9938E-5
16-20482444-T-A p.Ser216Thr missense ACSM2A 1 80664 1.23971E-5 40332 0 NA
16-20482456-T-C p.Phe220Leu missense ACSM2A 1 80666 1.23968E-5 40333 0 NA
16-20482463-G-C p.Ser222Thr missense ACSM2A 131 80624 0.00162483 40312 1 8.25458E-4
16-20482464-TG-T p.Thr224fs frameshift ACSM2A 1 80666 1.23968E-5 40333 0 8.28679E-6
16-20482502-A-G p.Tyr235Cys missense ACSM2A 5 80750 6.19195E-5 40375 0 5.0813E-4
16-20482518-C-G c.40-4C>G splice_region ACSM2A 5 80800 6.18812E-5 40400 0 5.06073E-4
16-20482519-A-G p.Lys241Glu missense ACSM2A 1 80788 1.23781E-5 40394 0 4.17837E-5
16-20482529-T-A p.Met244Lys missense ACSM2A 2 80806 2.47506E-5 40403 0 8.37072E-6
16-20482539-G-A c.740+1G>A splice_donor ACSM2A 4 80820 4.94927E-5 40410 0 9.55718E-5
16-20482543-G-A c.740+5G>A splice_region ACSM2A 1 80810 1.23747E-5 40405 0 NA
16-20482544-C-T c.740+6C>T splice_region ACSM2A 1 80808 1.2375E-5 40404 0 NA
16-20482858-T-C p.Gly247Gly splice_region+synonymous ACSM2A 1 80902 1.23606E-5 40451 0 NA
16-20482895-A-G p.Ile260Val missense ACSM2A 5 81038 6.16995E-5 40519 0 3.18451E-5
16-20482896-T-C p.Ile260Thr missense ACSM2A 1 81038 1.23399E-5 40519 0 6.25E-4
16-20482901-G-C p.Asp262His missense ACSM2A 1 81048 1.23384E-5 40524 0 NA
16-20482913-A-C p.Ile266Leu missense ACSM2A 8 81062 9.86899E-5 40531 0 1.27397E-4
16-20482919-A-G p.Asn268Asp missense ACSM2A 3 81068 3.7006E-5 40534 0 5.76815E-5
16-20482920-A-G p.Asn268Ser missense ACSM2A 4 81070 4.93401E-5 40535 0 1.64802E-5
16-20482927-G-C p.Leu270Phe missense ACSM2A 48 81070 5.92081E-4 40535 0 0.00375
16-20482928-T-G p.Cys271Gly missense ACSM2A 72 81048 8.88362E-4 40524 1 0.00654582
16-20482934-CT-C p.Met274fs frameshift ACSM2A 6 81080 7.4001E-5 40540 0 3.18451E-5
16-20482943-C-A p.Pro276Thr missense ACSM2A 1 81088 1.23323E-5 40544 0 5.17034E-5
16-20482943-C-G p.Pro276Ala missense ACSM2A 1 81088 1.23323E-5 40544 0 NA
16-20482948-G-A p.Trp277* stop_gained ACSM2A 3 81080 3.70005E-5 40540 0 8.23995E-6
16-20482949-G-T p.Ala278Ser missense ACSM2A 7 81080 8.63345E-5 40540 0 5.03525E-4
16-20482952-T-C p.Leu279Leu synonymous ACSM2A 1 81078 1.23338E-5 40539 0 NA
16-20482959-C-T p.Ala281Val missense ACSM2A 3 81078 3.70014E-5 40539 0 6.25E-4
16-20482960-A-G p.Ala281Ala synonymous ACSM2A 1 81076 1.23341E-5 40538 0 NA
16-20482961-T-C p.Cys282Arg missense ACSM2A 1 81080 1.23335E-5 40540 0 3.97772E-6
16-20482970-G-C p.Val285Leu missense ACSM2A 1 81064 1.23359E-5 40532 0 8.24974E-6
16-20482973-C-T p.His286Tyr missense ACSM2A 1 81064 1.23359E-5 40532 0 1.19379E-5
16-20482985-A-C p.Lys290Gln missense ACSM2A 1 81058 1.23368E-5 40529 0 NA
16-20482993-C-A p.Asp292Glu missense ACSM2A 1 81054 1.23375E-5 40527 0 1.66622E-5
16-20483000-G-T p.Val295Phe missense ACSM2A 2 81042 2.46786E-5 40521 0 NA
16-20483006-C-T p.Leu297Leu synonymous ACSM2A 1 81032 1.23408E-5 40516 0 NA
16-20483011-G-A p.Lys298Lys splice_region+synonymous ACSM2A 1 80996 1.23463E-5 40498 0 4.05966E-6
16-20483016-G-A c.894+5G>A splice_region ACSM2A 1 80958 1.23521E-5 40479 0 3.18573E-5
16-20486702-A-G p.Ile305Val missense ACSM2A 1 78538 1.27327E-5 39269 0 0.00585374
16-20486718-G-A p.Gly310Asp missense ACSM2A 1 79294 1.26113E-5 39647 0 NA
16-20486720-G-GC p.Ile313fs frameshift ACSM2A 1 79316 1.26078E-5 39658 0 NA
16-20486725-C-T p.Pro312Pro synonymous ACSM2A 6 79318 7.56449E-5 39659 0 5.74053E-4
16-20486732-T-A p.Tyr315Asn missense ACSM2A 1 79300 1.26103E-5 39650 0 3.18451E-5
16-20486735-C-T p.Arg316Trp missense ACSM2A 1 79292 1.26116E-5 39646 0 1.48368E-4
16-20486736-G-A p.Arg316Gln missense ACSM2A 4 79284 5.04515E-5 39642 0 5.17718E-5
16-20486736-G-T p.Arg316Leu missense ACSM2A 1 79280 1.26135E-5 39640 0 NA
16-20486738-A-C p.Met317Leu missense ACSM2A 2 79270 2.52302E-5 39635 0 8.24321E-6
16-20486766-G-C c.974+3G>C splice_region ACSM2A 2 78984 2.53216E-5 39492 0 6.25E-4
16-20486768-T-C c.974+5T>C splice_region ACSM2A 5 78932 6.33457E-5 39466 0 1.19538E-5
16-20486966-C-T c.975-6C>T splice_region ACSM2A 2 80952 2.4706E-5 40476 0 3.98241E-6
16-20486980-TC-T p.His330fs frameshift ACSM2A 1 80952 1.2353E-5 40476 0 1.19428E-5
16-20486980-T-TC p.His330fs frameshift ACSM2A 1 80950 1.23533E-5 40475 0 NA
16-20486983-C-T p.Pro329Leu missense ACSM2A 1 80962 1.23515E-5 40481 0 8.23968E-6
16-20486999-C-T p.Cys334Cys synonymous ACSM2A 93 80966 0.00114863 40483 0 0.00146786
16-20487000-G-A p.Val335Ile missense ACSM2A 23 80966 2.8407E-4 40483 0 2.22958E-4
16-20487003-A-C p.Thr336Pro missense ACSM2A 1 80976 1.23493E-5 40488 0 NA
16-20487009-G-A p.Gly338Arg missense ACSM2A 1 80974 1.23496E-5 40487 0 NA
16-20487011-G-C p.Gly338Gly synonymous ACSM2A 1 80972 1.23499E-5 40486 0 4.94242E-5
16-20487012-G-T p.Glu339* stop_gained ACSM2A 1 80972 1.23499E-5 40486 0 4.94234E-5
16-20487016-C-A p.Ser340Tyr missense ACSM2A 5 80970 6.17513E-5 40485 0 4.37501E-5
16-20487017-C-T p.Ser340Ser synonymous ACSM2A 5 80968 6.17528E-5 40484 0 5.76635E-5
16-20487018-C-T p.Leu341Phe missense ACSM2A 1 80964 1.23512E-5 40482 0 NA
16-20487019-T-C p.Leu341Pro missense ACSM2A 1 80958 1.23521E-5 40479 0 NA
16-20487033-C-T p.Leu346Leu synonymous ACSM2A 402 80944 0.0049664 40472 5 0.00971585
16-20487038-G-A p.Glu347Glu synonymous ACSM2A 1 80962 1.23515E-5 40481 0 5.03525E-4
16-20487058-G-T p.Gly354Val missense ACSM2A 2 80940 2.47097E-5 40470 0 9.55414E-5
16-20487065-C-T p.Asp356Asp synonymous ACSM2A 4 80946 4.94157E-5 40473 0 1.98881E-5
16-20487069-C-T p.Arg358* stop_gained ACSM2A 7 80936 8.64881E-5 40468 0 0.00100705
16-20487069-C-G p.Arg358Gly missense ACSM2A 2 80938 2.47103E-5 40469 0 1.98896E-5
16-20487070-G-C p.Arg358Pro missense ACSM2A 4 80936 4.94218E-5 40468 0 3.295E-5
16-20487070-G-A p.Arg358Gln missense ACSM2A 2 80936 2.47109E-5 40468 0 1.6475E-5
16-20487076-C-T p.Ser360Phe missense ACSM2A 3 80786 3.71351E-5 40393 0 0.00251762
16-20487086-G-A p.Gln363Gln synonymous ACSM2A 4 80920 4.94315E-5 40460 0 3.29576E-5
16-20487088-C-G p.Thr364Arg missense ACSM2A 1 80924 1.23573E-5 40462 0 6.36983E-5
16-20487094-C-T p.Thr366Met missense+splice_region ACSM2A 42 80916 5.19057E-4 40458 0 4.03791E-4
16-20487095-G-A p.Thr366Thr splice_region+synonymous ACSM2A 1 80918 1.23582E-5 40459 0 3.18634E-5
16-20487096-G-C c.1098+1G>C splice_donor ACSM2A 1 80918 1.23582E-5 40459 0 NA
16-20487102-G-T c.1098+7G>T splice_region ACSM2A 1 80912 1.23591E-5 40456 0 NA
16-20487103-T-C c.1098+8T>C splice_region ACSM2A 1 80912 1.23591E-5 40456 0 7.97747E-6
16-20487979-G-A n.1291G>A splice_region ACSM2A 1 38288 2.61178E-5 19144 0 NA
16-20487986-G-C n.1293+5G>C splice_region ACSM2A 1 40226 2.48595E-5 20113 0 NA
16-20487988-G-C n.1293+7G>C splice_region ACSM2A 2 40780 4.90437E-5 20390 0 4.78225E-4
16-20487989-G-A n.1293+8G>A splice_region ACSM2A 4 41030 9.74896E-5 20515 0 4.14567E-4
16-20488694-T-C p.Leu368Leu synonymous ACSM2A 1 77116 1.29675E-5 38558 0 4.56729E-6
16-20488696-A-G p.Leu368Leu synonymous ACSM2A 24456 75602 0.323483 37801 4291 0.37496
16-20488702-C-T p.Cys370Cys synonymous ACSM2A 1 77374 1.29242E-5 38687 0 NA
16-20488704-T-C p.Met371Thr missense ACSM2A 1 77436 1.29139E-5 38718 0 NA
16-20488704-T-A p.Met371Lys missense ACSM2A 1 77436 1.29139E-5 38718 0 NA
16-20488708-T-C p.Val372Val synonymous ACSM2A 1 77470 1.29082E-5 38735 0 NA
16-20488715-A-G p.Thr375Ala missense ACSM2A 4 77592 5.15517E-5 38796 0 3.48736E-5
16-20488716-C-T p.Thr375Ile missense ACSM2A 1 77648 1.28786E-5 38824 0 NA
16-20488731-C-T p.Pro380Leu missense ACSM2A 2 78438 2.54978E-5 39219 0 1.68552E-5
16-20488732-A-G p.Pro380Pro synonymous ACSM2A 1 78556 1.27298E-5 39278 0 4.20801E-6
16-20488741-G-T p.Met383Ile missense ACSM2A 2 79066 2.52953E-5 39533 0 3.18573E-5
16-20488746-C-T p.Thr385Met missense ACSM2A 4 79156 5.05331E-5 39578 0 6.25E-4
16-20488747-G-T p.Thr385Thr synonymous ACSM2A 2 79210 2.52493E-5 39605 0 1.56631E-4
16-20488754-T-C p.Ser388Pro missense ACSM2A 2 79386 2.51934E-5 39693 0 3.18593E-5
16-20488755-C-T p.Ser388Phe missense ACSM2A 1 79388 1.25964E-5 39694 0 4.34892E-6
16-20488763-G-A p.Asp391Asn missense ACSM2A 1 79556 1.25698E-5 39778 0 NA
16-20488776-G-T c.1179+5G>T splice_region ACSM2A 6 79438 7.55306E-5 39719 0 8.6411E-6
16-20488779-C-G c.1179+8C>G splice_region ACSM2A 1 79382 1.25973E-5 39691 0 8.84956E-6
16-20488779-C-T c.1179+8C>T splice_region ACSM2A 1 79382 1.25973E-5 39691 0 3.4503E-4
16-20489890-T-C c.1180-8T>C splice_region ACSM2A 3 80724 3.71637E-5 40362 0 6.25E-4
16-20489896-A-C c.1180-2A>C splice_acceptor ACSM2A 3 80772 3.71416E-5 40386 0 9.55414E-5
16-20489898-A-C p.Ile394Leu missense+splice_region ACSM2A 1 80786 1.23784E-5 40393 0 1.65681E-5
16-20489899-T-G p.Ile394Ser missense+splice_region ACSM2A 3 80792 3.71324E-5 40396 0 3.58609E-5
16-20489906-T-C p.Asp396Asp synonymous ACSM2A 1 80790 1.23778E-5 40395 0 NA
16-20489911-AG-A p.Gly399fs frameshift ACSM2A 1 80796 1.23769E-5 40398 0 NA
16-20489913-G-A p.Gly399Ser missense ACSM2A 1 80794 1.23772E-5 40397 0 3.98289E-6
16-20489915-C-T p.Gly399Gly synonymous ACSM2A 2 80794 2.47543E-5 40397 0 7.96546E-6
16-20489918-C-T p.Asn400Asn synonymous ACSM2A 3 80818 3.71204E-5 40409 0 3.58392E-5
16-20489919-G-A p.Val401Ile missense ACSM2A 23 80812 2.84611E-4 40406 0 3.50388E-4
16-20489924-G-GC p.Gly405fs frameshift ACSM2A 2 80804 2.47513E-5 40402 0 8.26337E-6
16-20489924-GC-G p.Gly405fs frameshift ACSM2A 2 80818 2.4747E-5 40409 0 3.18512E-5
16-20489925-C-T p.Pro403Ser missense ACSM2A 1 80818 1.23735E-5 40409 0 8.26351E-6
16-20489929-C-T p.Pro404Leu missense ACSM2A 10 80842 1.23698E-4 40421 0 9.0843E-5
16-20489929-C-A p.Pro404His missense ACSM2A 6 80844 7.4217E-5 40422 0 1.91095E-4
16-20489930-C-T p.Pro404Pro synonymous ACSM2A 41 80840 5.07175E-4 40420 0 0.0025683
16-20489935-C-T p.Thr406Ile missense ACSM2A 4 80868 4.94633E-5 40434 0 8.25777E-6
16-20489936-A-T p.Thr406Thr synonymous ACSM2A 1 80874 1.23649E-5 40437 0 1.65153E-5
16-20489964-C-A p.Pro416Thr missense ACSM2A 1 80892 1.23622E-5 40446 0 NA
16-20489966-C-T p.Pro416Pro synonymous ACSM2A 5 80890 6.18123E-5 40445 1 1.65256E-5
16-20489973-C-A p.Pro419Thr missense ACSM2A 2 80878 2.47286E-5 40439 0 6.37024E-5
16-20489974-C-T p.Pro419Leu missense ACSM2A 3 80874 3.70947E-5 40437 1 3.9827E-6
16-20489979-G-C p.Gly421Arg missense ACSM2A 2 80838 2.47408E-5 40419 0 7.96737E-6
16-20489984-C-T p.Ile422Ile synonymous ACSM2A 1 80806 1.23753E-5 40403 0 NA
16-20491903-C-T p.Pro430Pro synonymous ACSM2A 1 79314 1.26081E-5 39657 0 6.25E-4
16-20491904-G-A p.Asp431Asn missense ACSM2A 1 79306 1.26094E-5 39653 0 4.12419E-5
16-20491921-C-T p.Asn436Asn synonymous ACSM2A 1 79202 1.26259E-5 39601 0 1.07527E-4
16-20491926-G-A p.Arg438Gln missense ACSM2A 67 77992 8.59062E-4 38996 1 0.0161373
16-20491943-C-T p.Leu444Phe missense ACSM2A 1 78764 1.26962E-5 39382 0 8.26583E-6
16-20491953-G-A p.Arg447Gln missense ACSM2A 1 78194 1.27887E-5 39097 0 0.00181598
16-20491990-G-A p.Met459Ile missense ACSM2A 1 66452 1.50485E-5 33226 0 2.88284E-4
16-20492000-A-G p.Asn463Asp missense ACSM2A 1876 12586 0.149055 6293 483 0.888274
16-20492009-A-G p.Ile466Val missense ACSM2A 1 70104 1.42645E-5 35052 0 0.00435323
16-20492143-G-A c.1410-1G>A splice_acceptor ACSM2A 1 79522 1.25751E-5 39761 0 NA
16-20492144-G-T p.Gly470Gly splice_region+synonymous ACSM2A 3 79520 3.77264E-5 39760 0 4.94527E-5
16-20492148-C-T p.Arg472Trp missense ACSM2A 1 79500 1.25786E-5 39750 0 9.88989E-5
16-20492148-C-G p.Arg472Gly missense ACSM2A 2 79506 2.51553E-5 39753 0 NA
16-20492149-G-C p.Arg472Pro missense ACSM2A 1 79506 1.25777E-5 39753 0 7.96483E-6
16-20492157-C-T p.Pro475Ser missense ACSM2A 1 79504 1.2578E-5 39752 0 7.96381E-6
16-20492157-C-A p.Pro475Thr missense ACSM2A 1 79504 1.2578E-5 39752 0 NA
16-20492158-C-A p.Pro475His missense ACSM2A 1 79504 1.2578E-5 39752 0 2.78738E-5
16-20492161-C-T p.Ser476Leu missense ACSM2A 1 79512 1.25767E-5 39756 0 5.7673E-5
16-20492162-G-A p.Ser476Ser synonymous ACSM2A 3 79514 3.77292E-5 39757 0 4.11916E-5
16-20492184-G-A p.Glu484Lys missense ACSM2A 1 79460 1.25849E-5 39730 0 6.43211E-4
16-20492193-G-T p.Ala487Ser missense ACSM2A 4 79504 5.03119E-5 39752 0 1.64769E-5
16-20492193-G-A p.Ala487Thr missense ACSM2A 1 79514 1.25764E-5 39757 0 NA
16-20492206-C-T p.Thr491Met missense ACSM2A 8 79472 1.00664E-4 39736 0 6.25E-4
16-20492207-G-A p.Thr491Thr synonymous ACSM2A 42 79460 5.28568E-4 39730 0 0.00369974
16-20492214-A-C p.Ile494Leu missense ACSM2A 1 79468 1.25837E-5 39734 0 NA
16-20492214-A-T p.Ile494Phe missense ACSM2A 1 79466 1.2584E-5 39733 0 0.00116009
16-20492228-C-T p.Asp498Asp synonymous ACSM2A 11 79454 1.38445E-4 39727 0 3.82555E-4
16-20492232-G-A p.Val500Ile missense ACSM2A 1 79456 1.25856E-5 39728 0 6.37836E-5
16-20492235-C-T p.Arg501* stop_gained ACSM2A 6 79448 7.55211E-5 39724 0 8.26214E-5
16-20492235-C-G p.Arg501Gly missense ACSM2A 1 79456 1.25856E-5 39728 0 1.27624E-4
16-20492250-G-A c.1509+7G>A splice_region ACSM2A 29 79360 3.65423E-4 39680 0 0.00125
16-20492330-C-T n.1525C>T splice_region ACSM2A 1 74382 1.34441E-5 37191 0 NA
16-20492330-C-A n.1525C>A splice_region ACSM2A 1 74382 1.34441E-5 37191 0 NA
16-20492469-G-C n.1910G>C splice_region ACSM2A 1 38470 2.59943E-5 19235 0 NA
16-20494380-G-A p.Val504Met missense+splice_region ACSM2A 1 81092 1.23317E-5 40546 0 NA
16-20494383-G-A p.Val505Met missense ACSM2A 1 81096 1.23311E-5 40548 0 NA
16-20494389-G-A p.Ala507Thr missense ACSM2A 2 81094 2.46627E-5 40547 0 8.23764E-6
16-20494392-T-C p.Phe508Leu missense ACSM2A 1 81096 1.23311E-5 40548 0 3.97668E-6
16-20494395-G-C p.Val509Leu missense ACSM2A 1 81090 1.2332E-5 40545 0 2.47113E-5
16-20494399-T-C p.Val510Ala missense ACSM2A 7 81100 8.63132E-5 40550 0 1.23554E-4
16-20494408-C-T p.Ser513Leu missense ACSM2A 8831 80944 0.1091 40472 530 0.214375
16-20494409-G-A p.Ser513Ser synonymous ACSM2A 7 81092 8.63217E-5 40546 0 9.56511E-5
16-20494409-G-T p.Ser513Ser synonymous ACSM2A 1 81092 1.23317E-5 40546 0 NA
16-20494418-G-A p.Leu516Leu synonymous ACSM2A 21 81080 2.59003E-4 40540 1 5.03525E-4
16-20494446-G-A p.Glu526Lys missense ACSM2A 17 81082 2.09664E-4 40541 0 2.88279E-4
16-20494448-G-A p.Glu526Glu synonymous ACSM2A 8 81086 9.86607E-5 40543 0 3.97636E-5
16-20494452-C-T p.Gln528* stop_gained ACSM2A 1 81082 1.23332E-5 40541 0 3.97636E-6
16-20494466-G-A p.Lys532Lys synonymous ACSM2A 1 81074 1.23344E-5 40537 0 NA
16-20494477-C-A p.Ala536Asp missense ACSM2A 1 81066 1.23356E-5 40533 0 7.9538E-6
16-20494479-C-G p.Pro537Ala missense ACSM2A 4 81070 4.93401E-5 40535 0 5.03525E-4
16-20494482-T-C p.Tyr538His missense ACSM2A 2 81062 2.46725E-5 40531 0 8.23845E-6
16-20494484-C-T p.Tyr538Tyr synonymous ACSM2A 1 81060 1.23365E-5 40530 0 8.23873E-6
16-20494491-C-T p.Pro541Ser missense ACSM2A 2 81054 2.46749E-5 40527 0 4.77445E-5
16-20494497-A-G p.Lys543Glu missense+splice_region ACSM2A 1 81050 1.23381E-5 40525 0 3.9794E-6
16-20494501-T-G c.1629+2T>G splice_donor ACSM2A 4 81034 4.9362E-5 40517 0 1.64864E-5
16-20497897-T-G p.Ile544Arg missense+splice_region ACSM2A 1 81040 1.23396E-5 40520 0 NA
16-20497913-C-A p.Asn549Lys missense ACSM2A 1 81066 1.23356E-5 40533 0 NA
16-20497916-G-A p.Leu550Leu synonymous ACSM2A 73 81076 9.0039E-4 40538 0 0.00114635
16-20497925-T-C p.Thr553Thr synonymous ACSM2A 1 81090 1.2332E-5 40545 0 8.23669E-6
16-20497944-C-T p.Arg560* stop_gained ACSM2A 29 81092 3.57618E-4 40546 0 0.00146487
16-20497945-G-A p.Arg560Gln missense ACSM2A 3 81100 3.69914E-5 40550 0 6.36983E-5
16-20497947-G-A p.Ala561Thr missense ACSM2A 2 81102 2.46603E-5 40551 0 6.25E-4
16-20497948-C-A p.Ala561Asp missense ACSM2A 1 81100 1.23305E-5 40550 0 7.95286E-6
16-20497956-C-T p.Arg564* stop_gained ACSM2A 9 81100 1.10974E-4 40550 0 0.00251762
16-20497962-A-G p.Lys566Glu missense ACSM2A 2 81098 2.46615E-5 40549 0 NA
16-20497964-G-A p.Lys566Lys synonymous ACSM2A 1 81094 1.23314E-5 40547 0 3.18451E-5
16-20497976-G-T p.Met570Ile missense ACSM2A 1 81102 1.23302E-5 40551 0 3.97652E-6
16-20497979-C-T p.Ser571Ser synonymous ACSM2A 14 81098 1.72631E-4 40549 0 3.50408E-4
16-20497979-C-A p.Ser571Ser synonymous ACSM2A 1 81098 1.23308E-5 40549 0 NA
16-20497980-G-A p.Gly572Arg missense ACSM2A 1 81098 1.23308E-5 40549 0 7.41375E-5
16-20497981-GA-G p.Ala574fs frameshift ACSM2A 20 81096 2.46621E-4 40548 0 5.03525E-4
16-20497986-G-T p.Ala574Ser missense ACSM2A 1 81094 1.23314E-5 40547 0 7.95317E-6
16-20497989-C-T p.Arg575Cys missense ACSM2A 2 81088 2.46646E-5 40544 0 NA
16-20497990-G-A p.Arg575His missense ACSM2A 1 81090 1.2332E-5 40545 0 1.59072E-5
16-20497993-C-T p.Ala576Val missense ACSM2A 3 81088 3.69968E-5 40544 0 5.03525E-4
16-20497993-C-A p.Ala576Glu missense ACSM2A 1 81088 1.23323E-5 40544 0 3.18552E-5
16-20497994-G-A p.Ala576Ala synonymous ACSM2A 5 81088 6.16614E-5 40544 0 1.59256E-4
16-20497995-C-T p.Gln577* stop_gained ACSM2A 4 81086 4.93303E-5 40543 0 6.37064E-5
16-20498103-CATGAAT-C c.*106_*111delGAATAT splice_region ACSM2A 2 79404 2.51876E-5 39702 0 NA
16-20498112-A-C c.*112A>C splice_region ACSM2A 1 78506 1.27379E-5 39253 0 NA



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