Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-6306739-C-T p.Asp261Asn missense ACER1 4 82088 4.87282E-5 41044 0 9.3027E-5
19-6306741-T-C p.Asp260Gly missense ACER1 2 82098 2.43611E-5 41049 0 2.59853E-5
19-6306744-C-A p.Gly259Val missense ACER1 1 82148 1.21732E-5 41074 0 8.6198E-6
19-6306747-C-T p.Arg258Gln missense ACER1 8 82214 9.7307E-5 41107 0 4.28853E-5
19-6306748-G-A p.Arg258Trp missense ACER1 13 82226 1.58101E-4 41113 0 3.50497E-4
19-6306758-G-A p.Tyr254Tyr synonymous ACER1 3 82346 3.64316E-5 41173 0 1.52017E-4
19-6306760-A-G p.Tyr254His missense ACER1 1 82396 1.21365E-5 41198 0 8.42148E-6
19-6306762-G-A p.Pro253Leu missense ACER1 1 82412 1.21342E-5 41206 0 2.5227E-5
19-6306764-C-T p.Leu252Leu synonymous ACER1 1 82392 1.21371E-5 41196 0 1.19886E-5
19-6306772-C-T p.Val250Met missense ACER1 2 82432 2.42624E-5 41216 0 NA
19-6306772-C-G p.Val250Leu missense ACER1 1 82432 1.21312E-5 41216 0 NA
19-6306773-G-A p.Pro249Pro synonymous ACER1 8 82416 9.70685E-5 41208 0 6.25E-4
19-6306779-A-G p.Ser247Ser synonymous ACER1 1 82524 1.21177E-5 41262 0 NA
19-6306781-T-A p.Ser247Cys missense ACER1 1 82528 1.21171E-5 41264 0 3.9854E-6
19-6306782-G-T p.Asp246Glu missense ACER1 1 82528 1.21171E-5 41264 0 1.1955E-5
19-6306782-G-A p.Asp246Asp synonymous ACER1 1 82528 1.21171E-5 41264 0 8.30979E-6
19-6306785-C-T p.Arg245Arg synonymous ACER1 2 82538 2.42313E-5 41269 0 8.30496E-6
19-6306792-C-T p.Trp243* stop_gained ACER1 1 82602 1.21062E-5 41301 0 3.98438E-6
19-6306798-C-T p.Arg241His missense ACER1 11 82600 1.33172E-4 41300 0 9.56175E-5
19-6306799-G-A p.Arg241Cys missense ACER1 1 82606 1.21057E-5 41303 0 5.03525E-4
19-6306810-G-A p.Thr237Ile missense ACER1 3 82710 3.62713E-5 41355 0 1.65953E-5
19-6306815-A-C p.Gly235Gly synonymous ACER1 28 82724 3.38475E-4 41362 0 5.73285E-4
19-6306822-A-T p.Met233Lys missense ACER1 1 82838 1.20718E-5 41419 0 NA
19-6306829-A-T p.Tyr231Asn missense ACER1 1 82894 1.20636E-5 41447 0 8.30385E-6
19-6306831-T-C p.Asn230Ser missense ACER1 1 82874 1.20665E-5 41437 0 NA
19-6306847-C-T p.Ala225Thr missense ACER1 1 83022 1.2045E-5 41511 0 3.18512E-5
19-6306857-C-T p.Met221Ile missense ACER1 650 83058 0.00782586 41529 3 0.016129
19-6306859-T-C p.Met221Val missense ACER1 1 83078 1.20369E-5 41539 0 3.18613E-5
19-6306860-G-C p.Gly220Gly synonymous ACER1 2 83070 2.40761E-5 41535 0 NA
19-6306862-C-T p.Gly220Ser missense ACER1 1 83078 1.20369E-5 41539 0 NA
19-6306879-C-T p.Ser214Asn missense ACER1 1 83068 1.20383E-5 41534 0 NA
19-6306891-T-A p.His210Leu missense+splice_region ACER1 1 83038 1.20427E-5 41519 0 NA
19-6306891-T-C p.His210Arg missense+splice_region ACER1 2 83038 2.40854E-5 41519 0 NA
19-6306896-G-C c.627-3C>G splice_region ACER1 1 83016 1.20459E-5 41508 0 NA
19-6306901-G-A c.627-8C>T splice_region ACER1 1 82978 1.20514E-5 41489 0 4.29008E-5
19-6307156-G-A c.626+8C>T splice_region ACER1 2 83314 2.40056E-5 41657 0 1.19468E-5
19-6307158-G-A c.626+6C>T splice_region ACER1 1 83304 1.20042E-5 41652 0 3.18552E-5
19-6307162-A-G c.626+2T>C splice_donor ACER1 2 83324 2.40027E-5 41662 0 NA
19-6307179-T-C p.Tyr204Cys missense ACER1 4 83356 4.79869E-5 41678 0 4.94707E-5
19-6307181-G-A p.Phe203Phe synonymous ACER1 2 83358 2.39929E-5 41679 0 1.64902E-5
19-6307190-A-C p.Ile200Met missense ACER1 1 83360 1.19962E-5 41680 0 NA
19-6307204-A-G p.Phe196Leu missense ACER1 1 83362 1.19959E-5 41681 0 NA
19-6307213-G-A p.Leu193Phe missense ACER1 1 83360 1.19962E-5 41680 0 NA
19-6307214-C-A p.Leu192Leu synonymous ACER1 9 83358 1.07968E-4 41679 0 9.56084E-5
19-6307218-C-G p.Arg191Pro missense ACER1 4 83356 4.79869E-5 41678 0 8.2394E-6
19-6307218-C-T p.Arg191His missense ACER1 7 83356 8.39772E-5 41678 0 1.15352E-4
19-6307219-G-A p.Arg191Cys missense ACER1 3 83360 3.59885E-5 41680 0 2.47182E-5
19-6307232-G-C p.Ser186Arg missense ACER1 3 83354 3.59911E-5 41677 0 2.78432E-5
19-6307243-C-T p.Ala183Thr missense ACER1 1 83366 1.19953E-5 41683 0 8.24158E-6
19-6307244-A-G p.Val182Val synonymous ACER1 2 83364 2.39912E-5 41682 0 NA
19-6307246-C-T p.Val182Ile missense ACER1 212 83352 0.00254343 41676 1 0.0040482
19-6307253-T-A p.Leu179Phe missense ACER1 1 83350 1.19976E-5 41675 0 NA
19-6307253-T-C p.Leu179Leu synonymous ACER1 1 83350 1.19976E-5 41675 0 3.19183E-5
19-6307267-C-T p.Val175Ile missense ACER1 1 83340 1.1999E-5 41670 0 NA
19-6307272-A-G p.Ile173Thr missense ACER1 2 83330 2.4001E-5 41665 0 8.24756E-6
19-6307281-C-T p.Arg170Gln missense ACER1 2 83310 2.40067E-5 41655 0 2.7858E-5
19-6307282-G-A p.Arg170Trp missense ACER1 2 83304 2.40085E-5 41652 0 2.786E-5
19-6307297-T-C p.Ser165Gly missense ACER1 1 83236 1.2014E-5 41618 0 NA
19-6307307-G-A c.489-6C>T splice_region ACER1 1 83176 1.20227E-5 41588 0 6.25E-4
19-6309706-A-G c.488+2T>C splice_donor ACER1 1 82806 1.20764E-5 41403 0 NA
19-6309723-C-A p.Cys158Phe missense ACER1 2 82854 2.41388E-5 41427 0 1.99026E-5
19-6309727-C-T p.Val157Met missense ACER1 18 82872 2.17202E-4 41436 0 7.76132E-4
19-6309731-G-A p.Tyr155Tyr synonymous ACER1 1 82910 1.20613E-5 41455 0 7.95805E-6
19-6309737-A-C p.Ile153Met missense ACER1 1 82918 1.20601E-5 41459 0 NA
19-6309743-C-T p.Leu151Leu synonymous ACER1 1 82886 1.20648E-5 41443 0 2.78507E-5
19-6309757-T-C p.Asn147Asp missense ACER1 8 82886 9.65181E-5 41443 0 NA
19-6309758-G-T p.Leu146Leu synonymous ACER1 2 82894 2.41272E-5 41447 0 1.91144E-4
19-6309763-C-T p.Ala145Thr missense ACER1 4 82846 4.82824E-5 41423 0 2.47235E-5
19-6309764-G-A p.Tyr144Tyr synonymous ACER1 1 82860 1.20685E-5 41430 0 4.12072E-5
19-6309764-G-T p.Tyr144* stop_gained ACER1 1 82860 1.20685E-5 41430 0 8.24144E-6
19-6309770-G-T p.Asn142Lys missense ACER1 1 82842 1.20712E-5 41421 0 NA
19-6309770-G-A p.Asn142Asn synonymous ACER1 1 82840 1.20715E-5 41420 0 4.12154E-5
19-6309776-C-T p.Thr140Thr synonymous ACER1 1 82800 1.20773E-5 41400 0 3.18573E-5
19-6309777-G-A p.Thr140Met missense ACER1 4 82818 4.82987E-5 41409 0 3.29799E-5
19-6309783-C-T p.Arg138Gln missense ACER1 3 82790 3.62363E-5 41395 0 0.00100806
19-6309784-G-A p.Arg138Trp missense ACER1 2 82788 2.41581E-5 41394 0 6.25E-4
19-6309788-G-T p.Phe136Leu missense ACER1 1 82826 1.20735E-5 41413 0 NA
19-6309800-G-C p.Thr132Thr synonymous ACER1 3 82760 3.62494E-5 41380 0 1.65055E-5
19-6309812-A-G p.Thr128Thr synonymous ACER1 14 82686 1.69315E-4 41343 0 1.59297E-4
19-6309819-A-C p.Ile126Ser missense ACER1 3 82640 3.6302E-5 41320 0 8.26733E-6
19-6309826-C-G p.Val124Leu missense ACER1 1 82534 1.21162E-5 41267 0 NA
19-6309827-C-T p.Leu123Leu synonymous ACER1 2 82508 2.42401E-5 41254 0 1.15469E-4
19-6309829-G-A p.Leu123Leu synonymous ACER1 1 82474 1.2125E-5 41237 0 1.19454E-5
19-6309831-C-A p.Arg122Leu missense ACER1 3 82396 3.64095E-5 41198 0 NA
19-6309831-C-T p.Arg122His missense ACER1 1 82396 1.21365E-5 41198 0 5.80296E-5
19-6309832-G-A p.Arg122Cys missense ACER1 1 82382 1.21386E-5 41191 0 1.19514E-5
19-6309841-G-A p.Gln119* stop_gained ACER1 3 82128 3.65283E-5 41064 0 3.32513E-5
19-6309846-C-A c.351-1G>T splice_acceptor ACER1 1 81918 1.22073E-5 40959 0 NA
19-6309852-A-T c.351-7T>A splice_region ACER1 24 81712 2.93715E-4 40856 0 0.00105176
19-6312164-TC-T p.Asn116fs frameshift ACER1 4 82944 4.82253E-5 41472 0 2.39887E-5
19-6312164-T-TC p.Asn116fs frameshift ACER1 2 82944 2.41127E-5 41472 0 NA
19-6312169-C-G p.Gly114Ala missense ACER1 4 82996 4.81951E-5 41498 0 5.04032E-4
19-6312170-C-T p.Gly114Arg missense ACER1 1 83016 1.20459E-5 41508 0 8.40817E-6
19-6312193-CG-C p.Arg106fs frameshift ACER1 2 83084 2.4072E-5 41542 0 1.66287E-5
19-6312194-G-A p.Arg106Cys missense ACER1 6 83086 7.22143E-5 41543 0 6.37267E-5
19-6312211-T-C p.Tyr100Cys missense ACER1 2 83114 2.40633E-5 41557 0 3.18796E-5
19-6312219-G-T p.Gly97Gly synonymous ACER1 2 83074 2.40749E-5 41537 0 7.9583E-6
19-6312223-A-G p.Leu96Pro missense ACER1 2 83082 2.40726E-5 41541 0 NA
19-6312224-G-A p.Leu96Leu synonymous ACER1 1 83096 1.20343E-5 41548 0 NA
19-6312225-G-T p.Leu95Leu synonymous ACER1 2 83088 2.40709E-5 41544 0 NA
19-6312231-C-T p.Leu93Leu synonymous ACER1 5 83116 6.01569E-5 41558 0 6.37024E-5
19-6312240-G-A p.Ile90Ile synonymous ACER1 4 83062 4.81568E-5 41531 0 3.30115E-5
19-6312245-C-T p.Glu89Lys missense ACER1 1 83080 1.20366E-5 41540 0 2.78494E-5
19-6312246-G-A p.Asp88Asp synonymous ACER1 3 83070 3.61141E-5 41535 0 8.25123E-6
19-6312259-C-T p.Gly84Asp missense ACER1 2 83052 2.40813E-5 41526 0 1.91302E-4
19-6312263-G-A p.Leu83Leu synonymous ACER1 4 83072 4.8151E-5 41536 0 NA
19-6312273-C-T p.Thr79Thr synonymous ACER1 7 83066 8.42703E-5 41533 0 1.48454E-4
19-6312274-G-A p.Thr79Met missense ACER1 1 83072 1.20378E-5 41536 0 6.37471E-5
19-6312290-T-C p.Met74Val missense ACER1 9195 82878 0.110946 41439 632 0.15798
19-6312293-A-C p.Ser73Ala missense ACER1 1 83072 1.20378E-5 41536 0 NA
19-6312294-G-A p.Phe72Phe synonymous ACER1 2 83078 2.40738E-5 41539 0 NA
19-6312303-T-C c.209-2A>G splice_acceptor ACER1 2 83088 2.40709E-5 41544 0 NA
19-6312305-C-T c.209-4G>A splice_region ACER1 2 83082 2.40726E-5 41541 0 1.59331E-5
19-6312307-G-A c.209-6C>T splice_region ACER1 1 83092 1.20349E-5 41546 0 NA
19-6312308-C-T c.209-7G>A splice_region ACER1 3 83068 3.6115E-5 41534 0 3.18674E-5
19-6312309-G-A c.209-8C>T splice_region ACER1 22 83082 2.64799E-4 41541 0 6.25E-4
19-6312391-C-T c.208+5G>A splice_region ACER1 1 83306 1.20039E-5 41653 0 NA
19-6312405-T-C p.Met67Val missense ACER1 3 83332 3.60006E-5 41666 1 1.19355E-5
19-6312408-A-G p.Phe66Leu missense ACER1 1 83332 1.20002E-5 41666 0 NA
19-6312410-A-G p.Leu65Pro missense ACER1 1 83328 1.20008E-5 41664 0 NA
19-6312423-C-T p.Val61Ile missense ACER1 4 83338 4.79973E-5 41669 0 7.41278E-5
19-6312434-C-T p.Arg57His missense ACER1 1 83340 1.1999E-5 41670 0 1.64728E-5
19-6312435-G-A p.Arg57Cys missense ACER1 1 83340 1.1999E-5 41670 0 3.18796E-5
19-6312440-C-T p.Arg55His missense ACER1 5 83334 5.99995E-5 41667 0 3.18979E-5
19-6312441-G-A p.Arg55Cys missense ACER1 13 83328 1.5601E-4 41664 0 0.0020141
19-6312455-G-A p.Pro50Leu missense ACER1 3 83328 3.60023E-5 41664 0 4.11828E-5
19-6312462-T-A p.Met48Leu missense ACER1 1 83328 1.20008E-5 41664 0 8.23642E-6
19-6312464-A-C p.Leu47Arg missense ACER1 1 83330 1.20005E-5 41665 0 NA
19-6312465-G-C p.Leu47Val missense ACER1 7 83332 8.40013E-5 41666 0 7.5578E-5
19-6312466-G-A p.Leu46Leu synonymous ACER1 2 83330 2.4001E-5 41665 0 1.4718E-4
19-6312471-T-C p.Met45Val missense ACER1 1 83324 1.20013E-5 41662 0 NA
19-6312474-T-C p.Met44Val missense ACER1 1 83332 1.20002E-5 41666 0 3.19081E-5
19-6312483-C-T p.Gly41Arg missense ACER1 6 83290 7.20375E-5 41645 0 5.04032E-4
19-6312483-C-G p.Gly41Arg missense ACER1 5 83290 6.00312E-5 41645 0 3.19285E-5
19-6312484-G-A p.Phe40Phe synonymous ACER1 43 83286 5.16293E-4 41643 0 0.00111614
19-6312494-A-G p.Phe37Ser missense ACER1 1 83260 1.20106E-5 41630 0 NA
19-6312497-G-A p.Pro36Leu missense ACER1 1 83254 1.20114E-5 41627 0 8.23805E-6
19-6312502-A-G p.Asn34Asn synonymous ACER1 1 83228 1.20152E-5 41614 0 NA
19-6312517-CAG-C c.94-9_94-8delCT splice_region ACER1 1 83052 1.20406E-5 41526 0 8.24579E-6
19-6333462-G-A c.93+8C>T splice_region ACER1 2827 79792 0.0354296 39896 63 0.0585845
19-6333465-C-T c.93+5G>A splice_region ACER1 2 80036 2.49888E-5 40018 0 NA
19-6333471-G-A p.Thr31Met missense+splice_region ACER1 2 80200 2.49377E-5 40100 0 9.53362E-6
19-6333476-G-A p.Tyr29Tyr synonymous ACER1 5951 80126 0.0742705 40063 274 0.16893
19-6333484-C-T p.Glu27Lys missense ACER1 1 80540 1.24162E-5 40270 0 0.00201816
19-6333492-A-C p.Leu24Arg missense ACER1 2 80792 2.47549E-5 40396 0 4.61996E-6
19-6333497-C-T p.Ser22Ser synonymous ACER1 14 80898 1.73057E-4 40449 0 1.16545E-4
19-6333498-G-A p.Ser22Leu missense ACER1 89 80900 0.00110012 40450 0 0.00236538
19-6333504-TG-T p.Gln20fs frameshift ACER1 9 81302 1.10698E-4 40651 0 4.58148E-6
19-6333508-A-G p.Phe19Leu missense ACER1 1 81444 1.22784E-5 40722 0 NA
19-6333509-G-C p.Asn18Lys missense ACER1 2 81468 2.45495E-5 40734 0 NA
19-6333510-T-G p.Asn18Thr missense ACER1 42 81482 5.15451E-4 40741 0 0.00114969
19-6333515-C-T p.Glu16Glu synonymous ACER1 1 81610 1.22534E-5 40805 0 NA
19-6333528-A-G p.Val12Ala missense ACER1 1 81648 1.22477E-5 40824 0 NA
19-6333532-C-T p.Glu11Lys missense ACER1 2 81664 2.44906E-5 40832 0 6.37024E-5
19-6333533-G-A p.Ser10Ser synonymous ACER1 2355 81596 0.0288617 40798 66 0.0646465
19-6333543-T-C p.Tyr7Cys missense ACER1 1 81608 1.22537E-5 40804 0 NA
19-6333548-G-A p.Phe5Phe synonymous ACER1 2 81522 2.45333E-5 40761 0 4.94814E-6
19-6333554-G-A p.Ser3Ser synonymous ACER1 2 81448 2.45555E-5 40724 0 NA
19-6333556-T-C p.Ser3Gly missense ACER1 1 81434 1.22799E-5 40717 0 NA
19-6333561-A-G p.Met1? start_lost ACER1 1 81308 1.22989E-5 40654 0 5.18839E-6
19-6333562-T-C p.Met1? start_lost ACER1 2 81282 2.46057E-5 40641 0 3.18695E-5
19-6333598-G-A c.-36C>T 5_prime_UTR_premature_start_codon_gain ACER1 32 79618 4.01919E-4 39809 0 6.68875E-4