Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-134076393-C-T c.*154G>A splice_region AMOTL2 1 59958 1.66783E-5 29979 0 NA
3-134076568-G-A p.Asp774Asp synonymous AMOTL2 1 82984 1.20505E-5 41492 0 NA
3-134076579-C-T p.Asp771Asn missense AMOTL2 1 82976 1.20517E-5 41488 0 8.23764E-6
3-134076581-T-C p.Gln770Arg missense AMOTL2 1 82958 1.20543E-5 41479 0 2.47133E-5
3-134076583-G-T p.Val769Val synonymous AMOTL2 1 82956 1.20546E-5 41478 0 2.78354E-5
3-134076583-G-C p.Val769Val synonymous AMOTL2 1 82956 1.20546E-5 41478 0 3.97649E-6
3-134076587-C-G p.Arg768Thr missense AMOTL2 19 82944 2.2907E-4 41472 0 5.09457E-4
3-134076589-G-C p.Ser767Ser synonymous AMOTL2 1 82948 1.20557E-5 41474 0 3.29516E-5
3-134076598-TAC-T p.Val764fs frameshift AMOTL2 1 82896 1.20633E-5 41448 0 1.98823E-5
3-134076610-A-G c.2285-5T>C splice_region AMOTL2 1 82696 1.20925E-5 41348 0 6.25E-4
3-134077378-T-C c.2284+4A>G splice_region AMOTL2 1 81968 1.21999E-5 40984 0 2.78786E-4
3-134077379-T-C c.2284+3A>G splice_region AMOTL2 1 81986 1.21972E-5 40993 0 NA
3-134077390-G-A p.Ala759Val missense AMOTL2 1 82262 1.21563E-5 41131 0 6.28141E-4
3-134077391-C-T p.Ala759Thr missense AMOTL2 1 82306 1.21498E-5 41153 0 1.60818E-5
3-134077402-C-T p.Ser755Asn missense AMOTL2 2 82452 2.42565E-5 41226 0 3.18573E-5
3-134077409-T-C p.Ser753Gly missense AMOTL2 1 82542 1.2115E-5 41271 0 1.60111E-5
3-134077418-G-A p.Leu750Leu synonymous AMOTL2 1 82648 1.20995E-5 41324 0 NA
3-134077420-A-C p.Leu749Arg missense AMOTL2 1 82664 1.20972E-5 41332 0 3.99355E-6
3-134077429-G-A p.Pro746Leu missense AMOTL2 1 82740 1.20861E-5 41370 0 NA
3-134077434-C-T p.Pro744Pro synonymous AMOTL2 7 82750 8.45921E-5 41375 0 6.25E-4
3-134077435-G-A p.Pro744Leu missense AMOTL2 275 82748 0.00332334 41374 2 0.00343971
3-134077435-G-T p.Pro744Gln missense AMOTL2 2 82754 2.4168E-5 41377 0 3.18492E-5
3-134077449-G-A p.Ser739Ser synonymous AMOTL2 5 82796 6.03894E-5 41398 0 3.82696E-4
3-134077453-G-A p.Thr738Ile missense AMOTL2 1 82800 1.20773E-5 41400 0 4.15724E-5
3-134077454-T-C p.Thr738Ala missense AMOTL2 36 82698 4.35319E-4 41349 0 7.65306E-4
3-134077458-G-A p.Asp736Asp synonymous AMOTL2 1 82828 1.20732E-5 41414 0 NA
3-134077461-T-TG p.Asp736fs frameshift AMOTL2 1 82872 1.20668E-5 41436 0 NA
3-134077462-G-C p.Pro735Arg missense AMOTL2 1 82876 1.20662E-5 41438 0 NA
3-134077462-G-T p.Pro735Gln missense AMOTL2 3 82876 3.61987E-5 41438 0 4.98389E-5
3-134077469-CC-TG p.GluGly732AspSer missense AMOTL2 2 82826 2.4147E-5 41413 0 NA
3-134077470-C-G p.Glu732Asp missense AMOTL2 56234 82016 0.685647 41008 19518 0.737018
3-134077470-C-A p.Glu732Asp missense AMOTL2 31 82852 3.74161E-4 41426 0 3.18959E-4
3-134077482-G-A p.Ser728Ser synonymous AMOTL2 3 82914 3.61821E-5 41457 0 3.18674E-5
3-134077489-T-C p.Asp726Gly missense AMOTL2 178 82978 0.00214515 41489 10 0.00667654
3-134077495-C-T p.Ser724Asn missense AMOTL2 4 83012 4.81858E-5 41506 0 2.78727E-5
3-134077499-C-T p.Gly723Arg missense AMOTL2 4 83022 4.818E-5 41511 0 3.98254E-6
3-134077499-C-G p.Gly723Arg missense AMOTL2 3 83022 3.6135E-5 41511 0 6.25E-4
3-134077500-G-A p.His722His synonymous AMOTL2 19 83020 2.28861E-4 41510 0 3.50542E-4
3-134077507-G-A p.Ala720Val missense AMOTL2 1 83044 1.20418E-5 41522 0 NA
3-134077517-CA-C p.Ala717fs frameshift AMOTL2 1 83028 1.20441E-5 41514 0 NA
3-134077520-G-A p.Pro716Ser missense AMOTL2 3 83010 3.61402E-5 41505 0 5.03525E-4
3-134077523-G-A p.Pro715Ser missense AMOTL2 3 83018 3.61367E-5 41509 0 NA
3-134077525-GCTGTGACCACTGGCTC-G p.Glu709fs frameshift AMOTL2 1 82960 1.2054E-5 41480 0 NA
3-134077525-G-C p.Ala714Gly missense AMOTL2 1 82960 1.2054E-5 41480 0 3.98886E-6
3-134077538-GCTC-G p.Glu709del conservative_inframe_deletion AMOTL2 1 82850 1.207E-5 41425 0 NA
3-134077541-C-A p.Glu709* stop_gained AMOTL2 1 82806 1.20764E-5 41403 0 NA
3-134077542-C-T p.Glu708Glu synonymous AMOTL2 1 82812 1.20755E-5 41406 0 3.32132E-5
3-134077543-T-C p.Glu708Gly missense AMOTL2 5 82798 6.03879E-5 41399 0 3.32171E-5
3-134077544-C-G p.Glu708Gln missense AMOTL2 3 82790 3.62363E-5 41395 0 NA
3-134077547-T-C p.Thr707Ala missense AMOTL2 1 82684 1.20942E-5 41342 0 NA
3-134077550-G-T p.Pro706Thr missense AMOTL2 2 82606 2.42113E-5 41303 0 7.99495E-6
3-134077552-G-A p.Ala705Val missense AMOTL2 1 82540 1.21153E-5 41270 0 8.31961E-6
3-134077556-T-C p.Arg703Gly missense+splice_region AMOTL2 2 82536 2.42319E-5 41268 0 3.20174E-5
3-134077566-A-G c.2105-5T>C splice_region AMOTL2 2 82228 2.43226E-5 41114 0 8.33167E-6
3-134078118-C-T c.2104+7G>A splice_region AMOTL2 1 82888 1.20645E-5 41444 0 3.98435E-6
3-134078136-C-T p.Arg698Gln missense AMOTL2 2 82994 2.40981E-5 41497 0 NA
3-134078137-G-C p.Arg698Gly missense AMOTL2 65 82984 7.83283E-4 41492 1 0.00149758
3-134078139-G-A p.Ala697Val missense AMOTL2 2 83012 2.40929E-5 41506 0 8.25873E-6
3-134078146-C-T p.Ala695Thr missense AMOTL2 1 83034 1.20433E-5 41517 0 6.60687E-5
3-134078147-G-A p.Asp694Asp synonymous AMOTL2 14 83054 1.68565E-4 41527 0 1.59357E-4
3-134078157-T-C p.Gln691Arg missense AMOTL2 1 83072 1.20378E-5 41536 0 2.47762E-5
3-134078160-C-T p.Arg690Gln missense AMOTL2 3 83070 3.61141E-5 41535 0 8.75469E-5
3-134078174-G-A p.Leu685Leu synonymous AMOTL2 8 83076 9.62974E-5 41538 0 1.59297E-4
3-134078187-C-T p.Gly681Asp missense AMOTL2 2 83002 2.40958E-5 41501 0 NA
3-134078197-C-CACCACCCAAAACATTTGGAAGCCAATCCAATCTGGTAGTTATTCCCAT p.Ala677_Gly678insMetGlyIleThrThrArgLeuAspTrpLeuProAsnValLeuGlyGly conservative_inframe_insertion AMOTL2 2 83012 2.40929E-5 41506 1 NA
3-134078197-C-T p.Gly678Arg missense AMOTL2 1 83012 1.20465E-5 41506 0 NA
3-134078205-G-A p.Ala675Val missense AMOTL2 4 83002 4.81916E-5 41501 0 3.18715E-5
3-134078210-C-T p.Ala673Ala synonymous AMOTL2 5 83064 6.01946E-5 41532 0 6.25E-4
3-134078211-G-A p.Ala673Val missense AMOTL2 4 83046 4.81661E-5 41523 0 1.98999E-5
3-134078212-C-T p.Ala673Thr missense AMOTL2 1 83050 1.20409E-5 41525 0 1.59184E-5
3-134078213-G-A p.Phe672Phe synonymous AMOTL2 3 83064 3.61167E-5 41532 0 1.59286E-4
3-134078220-G-A p.Ser670Phe missense AMOTL2 2 83086 2.40714E-5 41543 0 NA
3-134078226-A-G p.Val668Ala missense AMOTL2 1 83062 1.20392E-5 41531 0 3.97826E-6
3-134078228-C-A p.Ser667Ser synonymous AMOTL2 4 83058 4.81591E-5 41529 0 1.65388E-4
3-134078228-C-T p.Ser667Ser synonymous AMOTL2 1 83058 1.20398E-5 41529 0 3.18674E-5
3-134078242-G-A p.Arg663Trp missense AMOTL2 1 83028 1.20441E-5 41514 0 1.65511E-5
3-134078246-G-A p.Ser661Ser synonymous AMOTL2 1 83050 1.20409E-5 41525 0 NA
3-134078251-C-T p.Gly660Ser missense AMOTL2 1 83036 1.2043E-5 41518 0 3.31208E-5
3-134078260-C-A p.Ala657Ser missense AMOTL2 1 83040 1.20424E-5 41520 0 1.11406E-4
3-134078268-G-A p.Pro654Leu missense AMOTL2 3 83044 3.61254E-5 41522 0 3.18715E-5
3-134078276-C-T p.Arg651Arg synonymous AMOTL2 1 83062 1.20392E-5 41531 0 8.30482E-6
3-134078278-T-C p.Arg651Gly missense AMOTL2 2 83056 2.40801E-5 41528 0 9.55901E-5
3-134078283-C-T p.Arg649His missense AMOTL2 6 83038 7.22561E-5 41519 0 1.27445E-4
3-134078284-G-A p.Arg649Cys missense AMOTL2 61 83026 7.3471E-4 41513 0 0.001875
3-134078294-G-A p.Val645Val synonymous AMOTL2 2 83044 2.40836E-5 41522 0 7.96216E-6
3-134078315-C-T p.Glu638Glu synonymous AMOTL2 1 82874 1.20665E-5 41437 0 NA
3-134078317-C-T p.Glu638Lys missense AMOTL2 1 82838 1.20718E-5 41419 0 3.99036E-6
3-134078320-G-A p.Leu637Leu synonymous AMOTL2 1 82798 1.20776E-5 41399 0 NA
3-134078330-A-G p.His633His synonymous AMOTL2 1 82578 1.21098E-5 41289 0 3.18735E-5
3-134078943-C-T c.1883+5G>A splice_region AMOTL2 1 75808 1.31912E-5 37904 0 1.95963E-5
3-134078944-G-A c.1883+4C>T splice_region AMOTL2 5 76124 6.56823E-5 38062 0 3.79156E-4
3-134078957-A-G p.Met625Thr missense AMOTL2 1 78558 1.27294E-5 39279 0 NA
3-134078969-C-T p.Arg621Lys missense AMOTL2 1 79640 1.25565E-5 39820 0 8.89553E-6
3-134078981-G-A p.Thr617Ile missense AMOTL2 2 80182 2.49433E-5 40091 0 NA
3-134078981-G-C p.Thr617Ser missense AMOTL2 1 80182 1.24716E-5 40091 0 NA
3-134078990-C-A p.Gly614Val missense AMOTL2 1 80478 1.24258E-5 40239 0 5.18977E-5
3-134078991-C-T p.Gly614Ser missense AMOTL2 2 80526 2.48367E-5 40263 0 NA
3-134078996-T-C p.Asn612Ser missense AMOTL2 4 80650 4.9597E-5 40325 0 9.55901E-5
3-134078997-T-C p.Asn612Asp missense AMOTL2 1 80696 1.23922E-5 40348 0 NA
3-134079011-G-A p.Pro607Leu missense AMOTL2 2 81078 2.46676E-5 40539 0 2.80647E-5
3-134079019-C-G p.Gln604His missense AMOTL2 28 81162 3.44989E-4 40581 0 2.55211E-4
3-134079020-T-TG p.Gln604fs frameshift AMOTL2 1 81248 1.2308E-5 40624 0 NA
3-134079025-G-A p.Ser602Ser synonymous AMOTL2 1 81412 1.22832E-5 40706 0 NA
3-134079028-A-C p.His601Gln missense AMOTL2 2 81320 2.45942E-5 40660 0 1.20043E-4
3-134079032-C-T p.Arg600Gln missense AMOTL2 2 81398 2.45706E-5 40699 0 0.00151057
3-134079042-T-A p.Thr597Ser missense AMOTL2 2 81602 2.45092E-5 40801 0 1.68597E-5
3-134079050-C-T p.Arg594His missense AMOTL2 3 81728 3.67071E-5 40864 0 1.6833E-5
3-134079051-G-A p.Arg594Cys missense AMOTL2 10 81720 1.22369E-4 40860 0 9.18963E-5
3-134079064-C-T p.Thr589Thr synonymous AMOTL2 409 82080 0.00498294 41040 25 0.0163463
3-134079066-TGGCAGCCGC-T p.Ala586_Ala588del conservative_inframe_deletion AMOTL2 1 82130 1.21758E-5 41065 0 5.1941E-5
3-134079066-T-C p.Thr589Ala missense AMOTL2 1 82130 1.21758E-5 41065 0 1.19864E-5
3-134079067-G-T p.Ala588Ala synonymous AMOTL2 1 82264 1.2156E-5 41132 0 NA
3-134079073-C-T p.Ala586Ala synonymous AMOTL2 3 82444 3.63883E-5 41222 0 2.78962E-5
3-134079074-G-A p.Ala586Val missense AMOTL2 2 82458 2.42548E-5 41229 0 8.33931E-6
3-134079086-AACTGCCTCATGGCAC-A p.Arg577_Phe582delinsLeu disruptive_inframe_deletion AMOTL2 1 82820 1.20744E-5 41410 0 3.98108E-6
3-134079091-C-T p.Arg580Arg synonymous AMOTL2 2 82864 2.41359E-5 41432 0 NA
3-134079094-C-T p.Met579Ile missense AMOTL2 1 82908 1.20616E-5 41454 0 NA
3-134079101-C-T p.Arg577His missense AMOTL2 9 82944 1.08507E-4 41472 0 6.36806E-5
3-134079133-CA-C p.Met566fs frameshift AMOTL2 1 83052 1.20406E-5 41526 0 3.97836E-6
3-134079134-A-G p.Met566Thr missense AMOTL2 1 83044 1.20418E-5 41522 0 3.18634E-5
3-134079148-C-T p.Ala561Ala synonymous AMOTL2 3 82972 3.61568E-5 41486 0 7.95773E-5
3-134079148-C-A p.Ala561Ala synonymous AMOTL2 1 82972 1.20523E-5 41486 0 NA
3-134079149-G-A p.Ala561Val missense AMOTL2 1 82958 1.20543E-5 41479 0 3.18451E-5
3-134079173-C-T p.Arg553Gln missense AMOTL2 3 82748 3.62547E-5 41374 0 3.9814E-5
3-134079181-T-A p.Glu550Asp missense AMOTL2 2 82606 2.42113E-5 41303 0 5.03525E-4
3-134079191-C-T p.Arg547Gln missense AMOTL2 1 82088 1.2182E-5 41044 0 4.78786E-5
3-134079194-A-G p.Leu546Pro missense AMOTL2 12 81920 1.46484E-4 40960 0 2.48143E-5
3-134079198-C-A p.Ala545Ser missense AMOTL2 5 81700 6.11995E-5 40850 0 5.79192E-5
3-134079199-G-A p.Ser544Ser synonymous AMOTL2 2 81658 2.44924E-5 40829 0 1.65546E-5
3-134079202-G-A p.Leu543Leu synonymous AMOTL2 2 81596 2.4511E-5 40798 0 3.18552E-5
3-134079209-G-A p.Pro541Leu missense AMOTL2 30 81384 3.68623E-4 40692 0 2.86789E-4
3-134079219-C-T p.Gly538Ser missense AMOTL2 1 81030 1.23411E-5 40515 0 NA
3-134079224-C-A p.Gly536Val missense AMOTL2 66 81012 8.14694E-4 40506 1 0.00149653
3-134079232-A-G p.Gly533Gly synonymous AMOTL2 1 80470 1.2427E-5 40235 0 NA
3-134079233-C-T p.Gly533Asp missense AMOTL2 5 80768 6.19057E-5 40384 0 0.00125
3-134079235-A-G p.Gly532Gly synonymous AMOTL2 1 80332 1.24483E-5 40166 0 NA
3-134079236-C-G p.Gly532Ala missense AMOTL2 1 80728 1.23873E-5 40364 0 NA
3-134080355-T-G p.Gln525Pro missense+splice_region AMOTL2 3 80006 3.74972E-5 40003 0 NA
3-134080360-T-C p.Ala523Ala synonymous AMOTL2 2 80002 2.49994E-5 40001 0 4.1155E-6
3-134080365-G-A p.Arg522Cys missense AMOTL2 2 79998 2.50006E-5 39999 0 NA
3-134080366-C-A p.Leu521Leu synonymous AMOTL2 2 80060 2.49813E-5 40030 0 9.55597E-5
3-134080367-A-G p.Leu521Pro missense AMOTL2 1 80076 1.24881E-5 40038 0 4.09209E-6
3-134080370-G-A p.Ala520Val missense AMOTL2 193 80034 0.00241148 40017 1 0.00535236
3-134080384-C-A p.Glu515Asp missense AMOTL2 1 79978 1.25034E-5 39989 0 9.4459E-6
3-134080391-C-A p.Arg513Leu missense AMOTL2 2 79816 2.50576E-5 39908 0 3.18654E-5
3-134080396-C-T p.Arg511Arg synonymous AMOTL2 2 79826 2.50545E-5 39913 0 2.02332E-5
3-134080408-C-G p.Glu507Asp missense AMOTL2 1 79612 1.25609E-5 39806 0 NA
3-134080421-C-T p.Arg503Gln missense AMOTL2 1 79904 1.2515E-5 39952 0 1.71075E-5
3-134080450-G-A p.Leu493Leu synonymous AMOTL2 1 79736 1.25414E-5 39868 0 3.18532E-5
3-134080453-C-A p.Ala492Ala synonymous AMOTL2 4 79764 5.01479E-5 39882 0 0.0015121
3-134080454-G-A p.Ala492Val missense AMOTL2 4 79718 5.01769E-5 39859 0 1.6276E-5
3-134080466-C-T p.Arg488Gln missense AMOTL2 1 80172 1.24732E-5 40086 0 3.40229E-5
3-134080467-G-A p.Arg488Trp missense AMOTL2 1 80110 1.24828E-5 40055 0 5.95471E-5
3-134080497-T-G p.Lys478Gln missense AMOTL2 1 80294 1.24542E-5 40147 0 NA
3-134080499-C-T p.Arg477His missense AMOTL2 2 80234 2.49271E-5 40117 0 3.41524E-5
3-134080500-G-A p.Arg477Cys missense AMOTL2 2 80214 2.49333E-5 40107 0 3.41507E-5
3-134080512-C-T p.Glu473Lys missense AMOTL2 2 80104 2.49675E-5 40052 0 1.09863E-4
3-134080513-G-A p.Ala472Ala synonymous AMOTL2 1 80066 1.24897E-5 40033 0 6.37146E-5
3-134080517-C-A p.Arg471Leu missense AMOTL2 1 79980 1.25031E-5 39990 0 8.7353E-6
3-134080517-C-T p.Arg471Gln missense AMOTL2 1 79980 1.25031E-5 39990 0 2.62059E-5
3-134080526-C-T p.Arg468Gln missense AMOTL2 20 79810 2.50595E-4 39905 0 0.00187735
3-134080527-G-A p.Arg468Trp missense AMOTL2 6 79716 7.52672E-5 39858 0 5.32151E-5
3-134080529-C-T p.Gly467Asp missense AMOTL2 2 79860 2.50438E-5 39930 0 4.09823E-6
3-134080534-C-T p.Ala465Ala synonymous AMOTL2 2 79824 2.50551E-5 39912 0 3.18613E-5
3-134080535-G-A p.Ala465Val missense AMOTL2 1 79818 1.25285E-5 39909 0 4.11005E-6
3-134080537-A-G p.Asn464Asn synonymous AMOTL2 1 79860 1.25219E-5 39930 0 3.18837E-5
3-134080538-T-C p.Asn464Ser missense AMOTL2 1 79876 1.25194E-5 39938 0 9.04388E-6
3-134080543-C-A p.Leu462Leu synonymous AMOTL2 1 79866 1.2521E-5 39933 0 NA
3-134080556-A-G p.Leu458Pro missense AMOTL2 1 79732 1.2542E-5 39866 0 NA
3-134080560-G-A p.Leu457Leu synonymous AMOTL2 2 79616 2.51206E-5 39808 0 5.24593E-5
3-134080564-G-C p.Ala455Ala synonymous AMOTL2 1 79462 1.25846E-5 39731 0 2.17226E-5
3-134080567-A-G p.Arg454Arg synonymous AMOTL2 238 79372 0.00299854 39686 4 0.0048129
3-134080568-C-T p.Arg454His missense AMOTL2 2 79442 2.51756E-5 39721 0 4.21539E-5
3-134080571-C-T p.Arg453Gln missense AMOTL2 4 79544 5.02866E-5 39772 0 4.64037E-5
3-134080571-C-A p.Arg453Leu missense AMOTL2 2 79544 2.51433E-5 39772 0 NA
3-134080572-G-C p.Arg453Gly missense AMOTL2 6 79430 7.55382E-5 39715 0 5.05051E-4
3-134080572-G-A p.Arg453Trp missense AMOTL2 2 79430 2.51794E-5 39715 0 1.16306E-5
3-134080581-C-A p.Asp450Tyr missense AMOTL2 3 79602 3.76875E-5 39801 0 NA
3-134080584-C-T p.Glu449Lys missense AMOTL2 16 79560 2.01106E-4 39780 0 6.25E-4
3-134080590-C-T p.Ala447Thr missense AMOTL2 11 79482 1.38396E-4 39741 0 0.00100908
3-134080590-C-A p.Ala447Ser missense AMOTL2 1 79484 1.25811E-5 39742 0 4.53432E-6
3-134080591-G-A p.Gly446Gly synonymous AMOTL2 3 79410 3.77786E-5 39705 0 6.25E-4
3-134080593-C-T p.Gly446Ser missense AMOTL2 3 79488 3.77415E-5 39744 0 5.26519E-5
3-134080596-G-C p.Arg445Gly missense AMOTL2 19 79436 2.39186E-4 39718 0 3.757E-5
3-134080596-G-A p.Arg445Cys missense AMOTL2 5 79436 6.29438E-5 39718 0 0.001875
3-134080613-C-T p.Arg439Gln missense AMOTL2 8 79616 1.00482E-4 39808 0 1.27405E-4
3-134080639-C-G p.Gln430His missense AMOTL2 3 79398 3.77843E-5 39699 0 NA
3-134080644-C-T p.Glu429Lys missense AMOTL2 1 79382 1.25973E-5 39691 0 1.80334E-5
3-134080645-G-A p.Tyr428Tyr synonymous AMOTL2 3 79350 3.78072E-5 39675 0 3.52709E-5
3-134080652-G-A c.1280-3C>T splice_region AMOTL2 2 79350 2.52048E-5 39675 0 3.89347E-5
3-134084654-C-T c.1279+5G>A splice_region AMOTL2 1 82326 1.21468E-5 41163 0 3.98318E-6
3-134084656-C-T c.1279+3G>A splice_region AMOTL2 1 82338 1.21451E-5 41169 0 NA
3-134084657-A-C c.1279+2T>G splice_donor AMOTL2 1 82312 1.21489E-5 41156 0 8.2672E-6
3-134084657-A-G c.1279+2T>C splice_donor AMOTL2 1 82312 1.21489E-5 41156 0 NA
3-134084658-C-T c.1279+1G>A splice_donor AMOTL2 1 82336 1.21454E-5 41168 0 7.96324E-6
3-134084660-C-G p.Gln426His missense+splice_region AMOTL2 269 82360 0.00326615 41180 0 0.00553877
3-134084683-T-C p.Met419Val missense AMOTL2 1 82648 1.20995E-5 41324 0 NA
3-134084695-C-T p.Gly415Ser missense AMOTL2 42 82744 5.0759E-4 41372 0 0.00235059
3-134084696-G-A p.Ala414Ala synonymous AMOTL2 25 82736 3.02166E-4 41368 0 2.10789E-4
3-134084697-G-T p.Ala414Asp missense AMOTL2 1 82750 1.20846E-5 41375 0 NA
3-134084699-C-T p.Gln413Gln synonymous AMOTL2 1 82800 1.20773E-5 41400 0 9.89756E-5
3-134084700-T-C p.Gln413Arg missense AMOTL2 1 82798 1.20776E-5 41399 0 NA
3-134084705-C-T p.Glu411Glu synonymous AMOTL2 3 82862 3.62048E-5 41431 0 1.64948E-5
3-134084709-T-C p.Gln410Arg missense AMOTL2 1 82858 1.20688E-5 41429 0 NA
3-134084711-T-C p.Thr409Thr synonymous AMOTL2 1 82854 1.20694E-5 41427 0 3.18552E-5
3-134084717-G-T p.Ser407Arg missense AMOTL2 1 82888 1.20645E-5 41444 0 NA
3-134084727-C-T p.Arg404His missense AMOTL2 133 82846 0.00160539 41423 0 0.0030605
3-134084728-G-A p.Arg404Cys missense AMOTL2 1 82870 1.20671E-5 41435 0 6.36395E-5
3-134084730-C-T p.Arg403His missense AMOTL2 238 82832 0.00287329 41416 3 0.00522459
3-134084734-T-C p.Asn402Asp missense AMOTL2 1 82866 1.20677E-5 41433 0 1.59286E-4
3-134085122-C-T c.1186+3G>A splice_region AMOTL2 2 83108 2.40651E-5 41554 0 NA
3-134085126-T-G p.Arg395Ser missense+splice_region AMOTL2 32 83116 3.85004E-4 41558 0 4.21293E-4
3-134085126-T-C p.Arg395Arg splice_region+synonymous AMOTL2 1 83116 1.20314E-5 41558 0 NA
3-134085131-G-A p.Leu394Phe missense AMOTL2 1 83144 1.20273E-5 41572 0 NA
3-134085136-C-T p.Arg392Gln missense AMOTL2 21 83154 2.52543E-4 41577 0 6.25E-4
3-134085137-G-A p.Arg392Trp missense AMOTL2 1 83140 1.20279E-5 41570 0 3.58115E-5
3-134085151-A-T p.Leu387Gln missense AMOTL2 1 83192 1.20204E-5 41596 0 NA
3-134085152-GCCT-G p.Arg386del conservative_inframe_deletion AMOTL2 1 83196 1.20198E-5 41598 0 6.36983E-5
3-134085157-C-A p.Arg385Met missense AMOTL2 2 83198 2.4039E-5 41599 0 3.1841E-5
3-134085159-C-A p.Met384Ile missense AMOTL2 1 83196 1.20198E-5 41598 0 3.97674E-6
3-134085181-C-T p.Arg377Gln missense AMOTL2 1 83126 1.20299E-5 41563 0 3.29522E-5
3-134085182-G-T p.Arg377Arg synonymous AMOTL2 1 83126 1.20299E-5 41563 0 8.23805E-6
3-134085200-C-T p.Ala371Thr missense AMOTL2 2 83010 2.40935E-5 41505 0 3.18492E-5
3-134085205-C-T p.Arg369His missense AMOTL2 33 82982 3.97677E-4 41491 0 0.00125
3-134085215-A-C p.Ser366Ala missense AMOTL2 2 82954 2.41097E-5 41477 0 3.18573E-5
3-134085239-C-T p.Ala358Thr missense AMOTL2 2 82768 2.41639E-5 41384 0 NA
3-134085240-C-T p.Glu357Glu synonymous AMOTL2 3 82774 3.62433E-5 41387 0 2.48016E-5
3-134085250-C-T p.Arg354Gln missense AMOTL2 1 82632 1.21018E-5 41316 0 1.66243E-5
3-134085252-C-T p.Gln353Gln synonymous AMOTL2 1 82628 1.21024E-5 41314 0 NA
3-134085273-C-T c.1042-4G>A splice_region AMOTL2 1 82302 1.21504E-5 41151 0 NA
3-134085274-A-G c.1042-5T>C splice_region AMOTL2 1 82292 1.21518E-5 41146 0 NA
3-134086347-T-C p.Ile345Val missense AMOTL2 1 80242 1.24623E-5 40121 0 NA
3-134086350-G-A p.Arg344Cys missense AMOTL2 1 80264 1.24589E-5 40132 0 1.67372E-5
3-134086351-G-T p.Gly343Gly synonymous AMOTL2 1 80248 1.24614E-5 40124 0 3.18573E-5
3-134086352-C-T p.Gly343Asp missense AMOTL2 2 80256 2.49203E-5 40128 0 3.34588E-5
3-134086356-C-G p.Ala342Pro missense AMOTL2 507 80314 0.00631272 40157 23 0.0205437
3-134086363-C-T p.Ala339Ala synonymous AMOTL2 3 80388 3.7319E-5 40194 0 5.01178E-5
3-134086364-G-A p.Ala339Val missense AMOTL2 2 80348 2.48917E-5 40174 0 2.50576E-5
3-134086369-G-A p.Ser337Ser synonymous AMOTL2 1 80466 1.24276E-5 40233 0 4.01897E-6
3-134086379-TC-AT p.Glu334Met missense AMOTL2 2 80544 2.48311E-5 40272 0 NA
3-134086391-C-T p.Arg330Gln missense AMOTL2 1 80562 1.24128E-5 40281 0 3.18512E-5
3-134086392-G-A p.Arg330Trp missense AMOTL2 99 80580 0.00122859 40290 0 5.25838E-4
3-134086397-T-C p.Asn328Ser missense AMOTL2 3 80658 3.71941E-5 40329 0 8.32473E-6
3-134086408-C-T p.Leu324Leu synonymous AMOTL2 1 80760 1.23824E-5 40380 0 NA
3-134086423-C-T p.Arg319Arg synonymous AMOTL2 2 81106 2.46591E-5 40553 0 NA
3-134086431-C-T p.Val317Met missense AMOTL2 7 81292 8.61093E-5 40646 0 1.66586E-4
3-134086432-G-A p.Ala316Ala synonymous AMOTL2 1 81312 1.22983E-5 40656 0 3.18512E-5
3-134086443-G-T p.Gln313Lys missense AMOTL2 1 81840 1.2219E-5 40920 0 6.25E-4
3-134086444-G-A p.Ala312Ala synonymous AMOTL2 1 81838 1.22193E-5 40919 0 5.03525E-4
3-134086450-G-A p.His310His synonymous AMOTL2 12 82014 1.46316E-4 41007 0 1.20044E-4
3-134086455-C-T p.Ala309Thr missense AMOTL2 1 82088 1.2182E-5 41044 0 NA
3-134086456-A-G p.Ser308Ser synonymous AMOTL2 1 82108 1.21791E-5 41054 0 NA
3-134086458-T-C p.Ser308Gly missense AMOTL2 1 82156 1.2172E-5 41078 0 NA
3-134086459-G-A p.Gly307Gly synonymous AMOTL2 1 82162 1.21711E-5 41081 0 NA
3-134086462-C-T p.Ser306Ser synonymous AMOTL2 1 82222 1.21622E-5 41111 0 8.35617E-6
3-134086463-G-A p.Ser306Leu missense AMOTL2 2 82282 2.43067E-5 41141 0 1.04071E-4
3-134086478-G-A p.Ala301Val missense AMOTL2 2 82294 2.43031E-5 41147 0 1.67305E-5
3-134086478-G-T p.Ala301Asp missense AMOTL2 2 82294 2.43031E-5 41147 0 1.20027E-5
3-134086484-G-C p.Ala299Gly missense AMOTL2 1 82300 1.21507E-5 41150 0 6.36983E-5
3-134086484-G-A p.Ala299Val missense AMOTL2 2 82300 2.43013E-5 41150 0 4.00285E-6
3-134086495-C-A p.Gly295Gly synonymous AMOTL2 1 82396 1.21365E-5 41198 0 NA
3-134086508-G-A p.Pro291Leu missense AMOTL2 1 82392 1.21371E-5 41196 0 1.20334E-5
3-134086510-T-G p.Pro290Pro synonymous AMOTL2 4 82364 4.85649E-5 41182 0 6.37877E-5
3-134086510-T-C p.Pro290Pro synonymous AMOTL2 9 82364 1.09271E-4 41182 0 0.00111629
3-134086523-C-T p.Ser286Asn missense AMOTL2 4 82302 4.86015E-5 41151 0 NA
3-134086539-C-T p.Gly281Ser missense AMOTL2 2 82020 2.43843E-5 41010 0 6.37227E-5
3-134086540-G-A p.Leu280Leu synonymous AMOTL2 1300 81946 0.0158641 40973 60 0.0327895
3-134086542-G-C p.Leu280Val missense AMOTL2 8 82026 9.753E-5 41013 0 0.00125
3-134086553-T-C p.His276Arg missense AMOTL2 9 81580 1.10321E-4 40790 0 3.19163E-5
3-134086556-G-C p.Pro275Arg missense AMOTL2 4 81300 4.92005E-5 40650 0 3.18857E-5
3-134086557-G-T p.Pro275Thr missense AMOTL2 1 81248 1.2308E-5 40624 0 NA
3-134086562-G-A p.Pro273Leu missense AMOTL2 1 80880 1.2364E-5 40440 0 4.03398E-6
3-134086563-G-T p.Pro273Thr missense AMOTL2 1 80840 1.23701E-5 40420 0 8.06426E-6
3-134086564-G-A p.Pro272Pro synonymous AMOTL2 1 80786 1.23784E-5 40393 0 NA
3-134086566-G-T p.Pro272Thr missense AMOTL2 1 80676 1.23953E-5 40338 0 NA
3-134086567-G-T p.His271Gln missense AMOTL2 2 80676 2.47905E-5 40338 0 4.02992E-5
3-134086567-G-A p.His271His synonymous AMOTL2 2 80676 2.47905E-5 40338 0 2.01496E-5
3-134086569-G-T p.His271Asn missense AMOTL2 2 80598 2.48145E-5 40299 0 NA
3-134086594-GTAC-G p.Gln261_Tyr262delinsHis disruptive_inframe_deletion AMOTL2 1 80242 1.24623E-5 40121 0 NA
3-134086595-T-C p.Tyr262Cys missense AMOTL2 148 80214 0.00184506 40107 3 0.00386211
3-134086598-T-G p.Gln261Pro missense AMOTL2 1 80160 1.2475E-5 40080 0 3.18918E-5
3-134086609-T-C p.Gln257Gln synonymous AMOTL2 1 80032 1.2495E-5 40016 0 8.53913E-6
3-134086610-TGGA-T p.Leu256del disruptive_inframe_deletion AMOTL2 1 80036 1.24944E-5 40018 0 5.98004E-5
3-134086642-G-A p.Ile246Ile synonymous AMOTL2 3 79178 3.78893E-5 39589 0 2.63722E-5
3-134086646-C-T c.735-1G>A splice_acceptor AMOTL2 1 79080 1.26454E-5 39540 0 NA
3-134086650-G-A c.735-5C>T splice_region AMOTL2 1 78894 1.26752E-5 39447 0 NA
3-134089532-GGA-G c.734+8_734+9delTC splice_region AMOTL2 8 80404 9.94975E-5 40202 0 9.55414E-5
3-134089535-G-C c.734+7C>G splice_region AMOTL2 3 80458 3.72865E-5 40229 0 5.79401E-6
3-134089548-T-G p.Glu243Ala missense AMOTL2 1 80934 1.23557E-5 40467 0 NA
3-134089552-C-T p.Ala242Thr missense AMOTL2 16 81104 1.97278E-4 40552 0 NA
3-134089565-C-T p.Pro237Pro synonymous AMOTL2 4 81528 4.90629E-5 40764 0 2.2946E-5
3-134089573-C-T p.Gly235Ser missense AMOTL2 1 81934 1.22049E-5 40967 0 1.14107E-5
3-134089574-G-A p.Arg234Arg synonymous AMOTL2 472 81938 0.00576045 40969 8 0.0118828
3-134089575-C-T p.Arg234His missense AMOTL2 3 82028 3.65729E-5 41014 0 1.71042E-5
3-134089575-C-A p.Arg234Leu missense AMOTL2 5 82028 6.09548E-5 41014 0 1.59307E-4
3-134089576-G-A p.Arg234Cys missense AMOTL2 1 82076 1.21838E-5 41038 0 3.18634E-5
3-134089581-C-T p.Arg232His missense AMOTL2 6 82224 7.29714E-5 41112 0 6.37186E-5
3-134089582-G-A p.Arg232Cys missense AMOTL2 1 82278 1.21539E-5 41139 0 1.87245E-5
3-134089587-C-T p.Arg230Gln missense AMOTL2 4 82428 4.85272E-5 41214 0 0.00100705
3-134089588-G-A p.Arg230Trp missense AMOTL2 11 82474 1.33375E-4 41237 0 6.25E-4
3-134089590-G-A p.Pro229Leu missense AMOTL2 4 82546 4.84578E-5 41273 0 2.80416E-5
3-134089624-G-C p.Leu218Val missense AMOTL2 4 82628 4.84097E-5 41314 0 2.78391E-5
3-134089624-G-A p.Leu218Leu synonymous AMOTL2 2 82628 2.42049E-5 41314 0 5.21349E-6
3-134089627-C-T p.Val217Ile missense AMOTL2 4 82598 4.84273E-5 41299 0 9.2773E-6
3-134089629-A-G p.Val216Ala missense AMOTL2 1 82586 1.21086E-5 41293 0 NA
3-134089646-T-TG p.Pro211fs frameshift AMOTL2 1 82260 1.21566E-5 41130 0 NA
3-134089650-G-C p.Pro209Arg missense AMOTL2 1 82194 1.21663E-5 41097 0 NA
3-134089651-G-A p.Pro209Ser missense AMOTL2 1 82162 1.21711E-5 41081 0 NA
3-134089654-C-G p.Gly208Arg missense AMOTL2 27 82020 3.29188E-4 41010 0 9.25217E-4
3-134089656-C-A p.Arg207Leu missense AMOTL2 1 81954 1.2202E-5 40977 0 9.11037E-6
3-134089659-G-A p.Ser206Phe missense AMOTL2 2 81894 2.44218E-5 40947 0 9.24471E-6
3-134089661-C-T p.Glu205Glu synonymous AMOTL2 1 81844 1.22184E-5 40922 0 NA
3-134089665-G-A p.Pro204Leu missense AMOTL2 4 81690 4.89656E-5 40845 0 3.18857E-5
3-134089672-C-T p.Glu202Lys missense AMOTL2 1 81496 1.22705E-5 40748 0 8.57008E-6
3-134089676-A-AG p.Ala201fs frameshift AMOTL2 1 81254 1.23071E-5 40627 0 NA
3-134089677-G-A p.Pro200Leu missense AMOTL2 1 81212 1.23135E-5 40606 0 NA
3-134089682-G-A p.Gly198Gly splice_region+synonymous AMOTL2 1 80898 1.23612E-5 40449 0 2.75563E-5
3-134089686-CTCAGTGGGGGGCCCT-C p.Gln192_Leu196del disruptive_inframe_deletion AMOTL2 2 80780 2.47586E-5 40390 0 NA
3-134089692-G-C p.Pro195Arg missense AMOTL2 1 80548 1.2415E-5 40274 0 NA
3-134089692-G-A p.Pro195Leu missense AMOTL2 1 80548 1.2415E-5 40274 0 2.89225E-5
3-134089692-G-GGGGGGCCCTGCTGGTTGCGGGCCAGCTGTGGGAAGCTGTGGGAGGAGCTCATGTGGCT p.Pro195fs frameshift AMOTL2 1 80548 1.2415E-5 40274 0 NA
3-134089706-G-C p.Asn190Lys missense AMOTL2 1 80088 1.24863E-5 40044 0 1.79475E-5
3-134089710-C-G p.Arg189Pro missense AMOTL2 1 79658 1.25537E-5 39829 0 NA
3-134089710-C-T p.Arg189His missense AMOTL2 6 79658 7.5322E-5 39829 0 0.00100705
3-134089711-G-A p.Arg189Cys missense AMOTL2 8 79746 1.00319E-4 39873 0 6.27353E-4
3-134089715-C-T p.Leu187Leu synonymous AMOTL2 1 79664 1.25527E-5 39832 0 8.90393E-6
3-134089733-G-A p.Ser181Ser synonymous AMOTL2 3 79408 3.77796E-5 39704 1 2.4462E-5
3-134089739-G-A p.Ser179Ser synonymous AMOTL2 2 79240 2.52398E-5 39620 0 1.79562E-5
3-134089750-T-C p.Ser176Gly missense AMOTL2 1 79090 1.26438E-5 39545 0 4.11309E-6
3-134089751-G-A p.Pro175Pro synonymous AMOTL2 1 79088 1.26441E-5 39544 0 NA
3-134089758-C-T p.Arg173Gln missense AMOTL2 625 78516 0.00796016 39258 3 0.00882777
3-134089759-G-A p.Arg173Trp missense AMOTL2 1 78646 1.27152E-5 39323 0 6.25E-4
3-134089765-C-T p.Gly171Ser missense AMOTL2 13 78690 1.65205E-4 39345 0 0.00125
3-134089767-T-A p.Asn170Ile missense AMOTL2 2 78986 2.53209E-5 39493 0 NA
3-134089783-A-G p.Leu165Leu synonymous AMOTL2 1 79456 1.25856E-5 39728 0 1.27845E-4
3-134089794-C-T p.Arg161Gln missense AMOTL2 19 79764 2.38203E-4 39882 1 3.83142E-4
3-134089805-C-T p.Ser157Ser synonymous AMOTL2 1 80266 1.24586E-5 40133 0 2.23964E-5
3-134089814-G-A p.His154His synonymous AMOTL2 6 80548 7.44897E-5 40274 0 0.0010101
3-134089817-C-T p.Gly153Gly synonymous AMOTL2 1 80732 1.23867E-5 40366 0 8.76294E-6
3-134089820-A-G p.His152His synonymous AMOTL2 1 80884 1.23634E-5 40442 0 NA
3-134089833-C-T p.Arg148Gln missense AMOTL2 1 81126 1.23265E-5 40563 0 3.19142E-5
3-134089834-G-A p.Arg148Trp missense AMOTL2 19 81110 2.3425E-4 40555 0 0.0025
3-134089837-G-A p.Leu147Leu synonymous AMOTL2 2 81286 2.46045E-5 40643 0 NA
3-134089843-C-T p.Glu145Lys missense AMOTL2 2 81430 2.4561E-5 40715 0 1.35213E-5
3-134089844-G-A p.Asp144Asp splice_region+synonymous AMOTL2 4 81438 4.91171E-5 40719 0 3.73487E-5
3-134089854-C-T p.Arg141Gln missense AMOTL2 5 81586 6.1285E-5 40793 0 6.25E-4
3-134089861-C-T p.Gly139Ser missense AMOTL2 1 81744 1.22333E-5 40872 0 NA
3-134089865-C-T p.Pro137Pro synonymous AMOTL2 97 81714 0.00118707 40857 1 0.00302725
3-134089866-G-A p.Pro137Leu missense AMOTL2 12 81658 1.46954E-4 40829 0 5.04541E-4
3-134089875-C-T p.Arg134His missense AMOTL2 3 81764 3.6691E-5 40882 0 1.21345E-5
3-134089876-G-A p.Arg134Cys missense AMOTL2 1 81766 1.223E-5 40883 0 3.18837E-5
3-134089882-C-G p.Asp132His missense AMOTL2 1 81832 1.22202E-5 40916 0 NA
3-134089884-C-T p.Arg131Gln missense AMOTL2 1 81836 1.22196E-5 40918 0 1.54707E-4
3-134089888-C-A p.Asp130Tyr missense AMOTL2 9 81916 1.09869E-4 40958 0 9.3482E-5
3-134089892-C-G p.Ala128Ala synonymous AMOTL2 2 81972 2.43986E-5 40986 0 3.18715E-5
3-134089895-A-T p.His127Gln missense+splice_region AMOTL2 4 82014 4.87722E-5 41007 0 6.37552E-5
3-134089898-T-C p.Pro126Pro synonymous AMOTL2 1 82074 1.21841E-5 41037 0 NA
3-134089902-C-T p.Arg125Gln missense AMOTL2 7 82088 8.52743E-5 41044 0 8.36316E-6
3-134089903-G-A p.Arg125Trp missense AMOTL2 2 82116 2.43558E-5 41058 0 5.04541E-4
3-134089916-C-T p.Gln120Gln synonymous AMOTL2 1 82272 1.21548E-5 41136 0 4.1229E-6
3-134089921-C-G p.Ala119Pro missense AMOTL2 1 82274 1.21545E-5 41137 0 NA
3-134089922-C-T p.Ala118Ala synonymous AMOTL2 1 82286 1.21527E-5 41143 0 1.64361E-5
3-134089934-C-T p.Ser114Ser synonymous AMOTL2 2 82416 2.42671E-5 41208 0 3.18756E-5
3-134089985-C-T p.Gln97Gln synonymous AMOTL2 2 82684 2.41885E-5 41342 0 3.5985E-5
3-134089998-C-T p.Arg93Gln missense AMOTL2 2 82686 2.41879E-5 41343 0 7.98856E-6
3-134089999-G-A p.Arg93Trp missense AMOTL2 2 82676 2.41908E-5 41338 0 1.72372E-5
3-134090025-T-C p.Asn84Ser missense AMOTL2 1 82442 1.21297E-5 41221 0 3.19366E-5
3-134090032-C-T p.Gly82Ser missense AMOTL2 2 82302 2.43007E-5 41151 0 1.69205E-5
3-134090032-C-A p.Gly82Cys missense AMOTL2 2 82302 2.43007E-5 41151 0 2.53807E-5
3-134090034-C-A p.Gly81Val missense AMOTL2 8 82272 9.72384E-5 41136 0 1.27665E-4
3-134090035-C-T p.Gly81Ser missense AMOTL2 2 82280 2.43072E-5 41140 0 NA
3-134090037-T-G p.Gln80Pro missense AMOTL2 2 82258 2.43137E-5 41129 0 NA
3-134090073-TG-GC p.Gln68Ala missense AMOTL2 1 81838 1.22193E-5 40919 0 NA
3-134090083-C-T p.Val65Met missense AMOTL2 15 81814 1.83343E-4 40907 0 0.00125471
3-134090093-C-T p.Glu61Glu synonymous AMOTL2 3 81864 3.66461E-5 40932 0 6.75162E-5
3-134090097-G-A p.Pro60Leu missense AMOTL2 1 81840 1.2219E-5 40920 0 NA
3-134090110-C-G p.Glu56Gln missense AMOTL2 2 81748 2.44654E-5 40874 0 4.01497E-6
3-134090117-G-A p.Ala53Ala synonymous AMOTL2 1 81750 1.22324E-5 40875 0 8.46926E-6
3-134090127-C-A p.Ser50Ile missense AMOTL2 1 81642 1.22486E-5 40821 0 NA
3-134090133-G-A p.Thr48Ile missense AMOTL2 1 81712 1.22381E-5 40856 0 NA
3-134090136-C-G p.Gly47Ala missense AMOTL2 1 81746 1.2233E-5 40873 0 NA
3-134090149-C-G p.Ala43Pro missense AMOTL2 1 81780 1.22279E-5 40890 0 NA
3-134090156-C-A p.Arg40Ser missense AMOTL2 1 81964 1.22005E-5 40982 0 5.03525E-4
3-134090161-G-A p.Leu39Leu synonymous AMOTL2 2 81998 2.43908E-5 40999 0 3.38639E-5
3-134090171-C-T p.Gln35Gln synonymous AMOTL2 1 82100 1.21803E-5 41050 0 4.02107E-6
3-134090188-T-C p.Thr30Ala missense AMOTL2 1 82252 1.21578E-5 41126 0 8.46726E-6
3-134090189-G-T p.Arg29Arg synonymous AMOTL2 1 82260 1.21566E-5 41130 0 NA
3-134090190-C-T p.Arg29His missense AMOTL2 3 82234 3.64813E-5 41117 0 3.22919E-5
3-134090191-G-A p.Arg29Cys missense AMOTL2 1 82284 1.2153E-5 41142 0 5.03525E-4
3-134090193-G-A p.Thr28Met missense AMOTL2 19 82360 2.30695E-4 41180 0 4.46457E-4
3-134090210-G-A p.Tyr22Tyr synonymous AMOTL2 1 82586 1.21086E-5 41293 0 5.03525E-4
3-134090211-T-C p.Tyr22Cys missense AMOTL2 1 82582 1.21092E-5 41291 0 NA
3-134090214-C-T p.Arg21His missense AMOTL2 1 82594 1.21074E-5 41297 0 1.69025E-5
3-134090215-G-A p.Arg21Cys missense AMOTL2 2 82604 2.42119E-5 41302 0 8.44794E-6
3-134090233-G-A p.Leu15Phe missense AMOTL2 1 82692 1.20931E-5 41346 0 NA
3-134090235-C-T p.Arg14His missense AMOTL2 1 82648 1.20995E-5 41324 0 8.46296E-6
3-134090236-G-A p.Arg14Cys missense AMOTL2 1 82680 1.20948E-5 41340 0 1.69256E-5
3-134090237-G-A p.His13His synonymous AMOTL2 67 82672 8.10432E-4 41336 0 0.0015614
3-134090247-G-A p.Thr10Ile missense AMOTL2 5 82652 6.04946E-5 41326 0 2.88991E-5
3-134090252-C-G p.Ser8Ser synonymous AMOTL2 1 82638 1.2101E-5 41319 0 NA
3-134090253-G-A p.Ser8Leu missense AMOTL2 4 82532 4.8466E-5 41266 0 1.24306E-5
3-134090262-TCCA-T p.Leu4_Glu5delinsGln disruptive_inframe_deletion AMOTL2 2 82550 2.42277E-5 41275 0 NA
3-134090263-C-T p.Glu5Lys missense AMOTL2 1 82522 1.2118E-5 41261 0 NA
3-134090264-C-G p.Leu4Leu synonymous AMOTL2 1 82536 1.21159E-5 41268 0 4.24982E-5
3-134090266-G-T p.Leu4Met missense AMOTL2 2 82482 2.42477E-5 41241 0 NA
3-134090268-G-A p.Thr3Ile missense AMOTL2 1 82436 1.21306E-5 41218 0 8.50644E-6
3-134090270-C-T p.Arg2Arg synonymous AMOTL2 3 82374 3.64193E-5 41187 0 2.92539E-5
3-134090280-C-T p.Arg57Lys missense AMOTL2 5 82172 6.0848E-5 41086 0 2.30868E-4
3-134090282-T-C p.Gln56Gln synonymous AMOTL2 14 82142 1.70437E-4 41071 0 7.18452E-4
3-134090287-T-C p.Ser55Gly missense AMOTL2 3 81890 3.66345E-5 40945 0 1.71559E-5
3-134090292-C-T p.Cys53Tyr missense AMOTL2 1 81624 1.22513E-5 40812 0 6.25E-4
3-134090305-A-G p.Ser49Pro missense AMOTL2 2 81234 2.46202E-5 40617 0 NA
3-134090306-C-A p.Leu48Phe missense AMOTL2 1 81206 1.23144E-5 40603 0 NA
3-134090313-C-T p.Arg46Gln missense AMOTL2 17 80822 2.10339E-4 40411 0 2.54923E-4
3-134090314-G-A p.Arg46Trp missense AMOTL2 4 80828 4.94878E-5 40414 0 1.59327E-4
3-134090319-C-T p.Cys44Tyr missense AMOTL2 1 80670 1.23962E-5 40335 0 8.91266E-6
3-134090326-C-T p.Ala42Thr missense AMOTL2 1 80424 1.24341E-5 40212 0 3.18674E-5
3-134090327-C-A p.Gly41Gly synonymous AMOTL2 2 80426 2.48676E-5 40213 0 1.29051E-5
3-134090340-G-C c.-61-4C>G splice_region AMOTL2 1 80138 1.24785E-5 40069 0 9.38086E-6
3-134090617-G-A c.-155C>T 5_prime_UTR_premature_start_codon_gain AMOTL2 1 11136 8.97989E-5 5568 0 NA
3-134090717-AC-A c.-62+5delG splice_region AMOTL2 11 1064 0.0103383 532 0 0.0182317
3-134090719-C-T c.-62+4G>A splice_region AMOTL2 1 940 0.00106383 470 0 NA
3-134090720-C-A c.-62+3G>T splice_region AMOTL2 1 970 0.00103093 485 0 NA
3-134092353-C-T c.-62+5G>A splice_region AMOTL2 2 24256 8.24538E-5 12128 0 NA
3-134092513-C-G c.-217G>C 5_prime_UTR_premature_start_codon_gain AMOTL2 1 24264 4.12133E-5 12132 0 NA
3-134092630-G-C c.-164C>G 5_prime_UTR_premature_start_codon_gain AMOTL2 9 24262 3.7095E-4 12131 0 6.37389E-5
3-134093000-T-A c.-340A>T 5_prime_UTR_premature_start_codon_gain AMOTL2 1 23490 4.25713E-5 11745 0 0.00115325
3-134093049-C-T c.-389G>A 5_prime_UTR_premature_start_codon_gain AMOTL2 6 24312 2.46792E-4 12156 0 NA
3-134093049-C-G c.-389G>C 5_prime_UTR_premature_start_codon_gain AMOTL2 3 24312 1.23396E-4 12156 0 3.19448E-5
3-134093183-C-A c.-62+1G>T splice_donor AMOTL2 1 24306 4.11421E-5 12153 0 NA
3-134093219-C-T c.-97G>A 5_prime_UTR_premature_start_codon_gain AMOTL2 1 24332 4.10981E-5 12166 0 NA
3-134093335-G-C c.-213C>G 5_prime_UTR_premature_start_codon_gain AMOTL2 1 24420 4.095E-5 12210 0 NA
3-134093340-G-A c.-218C>T 5_prime_UTR_premature_start_codon_gain AMOTL2 1 24404 4.09769E-5 12202 0 NA
3-134093343-T-A c.-221A>T 5_prime_UTR_premature_start_codon_gain AMOTL2 1 24406 4.09735E-5 12203 0 NA
3-134093657-C-T c.-62+3G>A splice_region AMOTL2 1 25540 3.91543E-5 12770 0 NA
3-134093657-C-CA c.-62+2_-62+3insT splice_donor AMOTL2 1 25540 3.91543E-5 12770 0 NA
3-134093666-T-A c.-68A>T 5_prime_UTR_premature_start_codon_gain AMOTL2 1 28062 3.56354E-5 14031 0 NA
3-134094031-C-T p.Gly38Arg missense+splice_region AMOTL2 1 34548 2.89452E-5 17274 0 NA
3-134094047-C-T p.Ala32Ala synonymous AMOTL2 1 34640 2.88684E-5 17320 0 NA
3-134094055-G-C p.Arg30Gly missense AMOTL2 1 34670 2.88434E-5 17335 0 3.11721E-5
3-134094077-G-C p.Thr22Thr synonymous AMOTL2 1 34678 2.88367E-5 17339 0 NA
3-134094080-G-A p.Ile21Ile synonymous AMOTL2 1 34674 2.88401E-5 17337 0 NA
3-134094114-G-A p.Thr10Ile missense AMOTL2 3 34528 8.6886E-5 17264 0 1.09227E-4
3-134094117-C-T p.Gly9Asp missense AMOTL2 1 34488 2.89956E-5 17244 0 NA