Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-31825104-G-A c.*134C>T splice_region AMN1 1 68104 1.46834E-5 34052 0 NA
12-31825105-A-G c.*133T>C splice_region AMN1 1 68194 1.4664E-5 34097 0 NA
12-31825252-A-G p.Trp255Arg missense AMN1 1 81950 1.22026E-5 40975 0 NA
12-31825267-G-A p.Leu250Leu synonymous AMN1 1 82016 1.21927E-5 41008 0 9.89345E-6
12-31825271-G-C p.Asn248Lys missense AMN1 1 82024 1.21916E-5 41012 0 NA
12-31825271-G-A p.Asn248Asn synonymous AMN1 1 82024 1.21916E-5 41012 0 NA
12-31825283-T-C p.Leu244Leu synonymous AMN1 1 82010 1.21936E-5 41005 0 NA
12-31825287-T-C p.Gln243Arg missense AMN1 1 82000 1.21951E-5 41000 0 1.51644E-5
12-31825294-A-G p.Leu241Leu synonymous AMN1 345 81956 0.00420958 40978 8 0.00956633
12-31825296-A-G p.Val240Ala missense AMN1 2 81948 2.44057E-5 40974 0 NA
12-31825314-A-G c.704-3T>C splice_region AMN1 1 81774 1.22288E-5 40887 0 3.35503E-5
12-31841933-G-A c.703+8C>T splice_region AMN1 1 81618 1.22522E-5 40809 0 NA
12-31841967-A-G p.Leu226Pro missense AMN1 2 82116 2.43558E-5 41058 0 4.02541E-6
12-31841974-T-C p.Ile224Val missense AMN1 1 82128 1.21761E-5 41064 0 NA
12-31841976-C-G p.Arg223Pro missense AMN1 1 82090 1.21818E-5 41045 0 1.74566E-5
12-31841977-G-A p.Arg223Cys missense AMN1 33 82114 4.0188E-4 41057 0 2.33183E-4
12-31841982-T-C p.Gln221Arg missense AMN1 1 82188 1.21672E-5 41094 0 NA
12-31841986-G-A p.Pro220Ser missense AMN1 1 82202 1.21652E-5 41101 0 3.18654E-5
12-31841988-CAGT-C p.Tyr218del disruptive_inframe_deletion AMN1 2 82216 2.43262E-5 41108 0 NA
12-31841991-T-G p.Tyr218Ser missense AMN1 22 82202 2.67633E-4 41101 0 0.00100705
12-31841998-G-A p.Leu216Phe missense AMN1 5 82188 6.08361E-5 41094 0 3.18776E-5
12-31842008-G-A p.Val212Val synonymous AMN1 1 82200 1.21655E-5 41100 0 8.63991E-6
12-31842013-C-A p.Ala211Ser missense AMN1 3 82186 3.65026E-5 41093 0 8.04272E-6
12-31842031-C-T p.Val205Ile missense AMN1 4 82086 4.87294E-5 41043 0 0.00151057
12-31842033-C-T p.Cys204Tyr missense AMN1 1 82086 1.21823E-5 41043 0 NA
12-31842052-C-CCT c.592-1_592insAG splice_acceptor AMN1 2 81756 2.4463E-5 40878 1 NA
12-31842056-T-C c.592-4A>G splice_region AMN1 1 81630 1.22504E-5 40815 0 3.18918E-5
12-31850301-TTTC-T p.Lys195del disruptive_inframe_deletion AMN1 1 81798 1.22252E-5 40899 0 NA
12-31850304-C-A p.Lys194Asn missense AMN1 1 81824 1.22214E-5 40912 0 NA
12-31850307-C-T p.Ala193Ala synonymous AMN1 4 81780 4.89117E-5 40890 0 6.25E-4
12-31850308-G-A p.Ala193Val missense AMN1 1 81802 1.22246E-5 40901 0 3.18715E-5
12-31850319-A-G p.Ser189Ser synonymous AMN1 1 81870 1.22145E-5 40935 0 NA
12-31850346-A-G p.Ser180Ser synonymous AMN1 4 81760 4.89237E-5 40880 0 8.31988E-6
12-31850349-T-C p.Val179Val splice_region+synonymous AMN1 2 81666 2.449E-5 40833 0 3.22773E-5
12-31850353-T-TGAGTAGCTGAA c.535-3_535-2insTTCAGCTACTC splice_region AMN1 3 81626 3.6753E-5 40813 1 NA
12-31850677-A-C p.Thr177Thr synonymous AMN1 1 80220 1.24657E-5 40110 0 1.21038E-5
12-31850692-G-A c.-85C>T 5_prime_UTR_premature_start_codon_gain AMN1 1 80352 1.24452E-5 40176 0 7.46888E-5
12-31850699-T-G p.Gln170Pro missense AMN1 1 80404 1.24372E-5 40202 0 NA
12-31850703-A-G c.-96T>C 5_prime_UTR_premature_start_codon_gain AMN1 1 80460 1.24285E-5 40230 0 NA
12-31850707-T-C p.Pro167Pro synonymous AMN1 2 80568 2.48238E-5 40284 0 8.29174E-6
12-31850732-A-G p.Leu159Ser missense AMN1 7 81144 8.62664E-5 40572 0 NA
12-31850759-C-T p.Gly150Asp missense AMN1 1 81524 1.22663E-5 40762 0 1.65667E-5
12-31850763-C-T p.Gly149Ser missense AMN1 1 81552 1.22621E-5 40776 0 8.03439E-6
12-31850769-C-T p.Asp147Asn missense AMN1 1 81544 1.22633E-5 40772 0 NA
12-31850770-G-A c.-163C>T 5_prime_UTR_premature_start_codon_gain AMN1 2 81574 2.45176E-5 40787 0 3.31329E-5
12-31850775-T-A p.Ile145Phe missense AMN1 2 81596 2.4511E-5 40798 0 8.03471E-6
12-31850776-C-T p.Lys144Lys synonymous AMN1 1 81614 1.22528E-5 40807 0 NA
12-31850809-G-A c.-202C>T 5_prime_UTR_premature_start_codon_gain AMN1 3 81634 3.67494E-5 40817 0 2.4107E-5
12-31850818-G-A c.-211C>T 5_prime_UTR_premature_start_codon_gain AMN1 3 81582 3.67728E-5 40791 0 3.31417E-5
12-31850821-A-G p.Thr129Thr synonymous AMN1 3 81568 3.67791E-5 40784 0 1.16005E-4
12-31850828-T-C p.Asn127Ser missense AMN1 6 81450 7.36648E-5 40725 0 3.31521E-5
12-31850849-G-A p.Ala120Val missense AMN1 1 80992 1.23469E-5 40496 0 6.36699E-5
12-31850854-G-A c.-247C>T 5_prime_UTR_premature_start_codon_gain AMN1 5 80826 6.18613E-5 40413 0 2.49016E-5
12-31850854-G-T p.His118Gln missense AMN1 1 80826 1.23723E-5 40413 0 NA
12-31850859-G-T p.Leu117Ile missense AMN1 1 80752 1.23836E-5 40376 0 NA
12-31850891-C-CCTT c.317-1_317insAAG splice_acceptor AMN1 5 79976 6.25188E-5 39988 2 NA
12-31854812-A-C p.Ser101Ala missense AMN1 1 82062 1.21859E-5 41031 0 NA
12-31854815-C-T p.Val100Ile missense AMN1 2 82082 2.43659E-5 41041 0 3.1839E-5
12-31854818-G-A p.Arg99* stop_gained AMN1 4 82104 4.87187E-5 41052 0 1.74046E-5
12-31854828-T-C p.Ser95Ser synonymous AMN1 1 82134 1.21752E-5 41067 0 3.1841E-5
12-31854835-T-C p.Asn93Ser missense AMN1 1 82148 1.21732E-5 41074 0 4.12865E-6
12-31854849-C-A p.Lys88Asn missense AMN1 1 82202 1.21652E-5 41101 0 NA
12-31854854-G-A c.-342C>T 5_prime_UTR_premature_start_codon_gain AMN1 22 82206 2.6762E-4 41103 0 0.00222902
12-31854860-T-C p.Arg85Gly missense AMN1 1 82256 1.21572E-5 41128 0 NA
12-31854879-G-A p.Leu78Leu synonymous AMN1 1 82286 1.21527E-5 41143 0 4.07432E-6
12-31854883-G-A p.Ala77Val missense AMN1 2 82288 2.43049E-5 41144 0 3.1835E-5
12-31854886-G-A p.Ala76Val missense AMN1 1 82304 1.21501E-5 41152 0 NA
12-31854899-C-T p.Asp72Asn missense AMN1 1 82250 1.21581E-5 41125 0 2.68967E-5
12-31854900-G-A p.Cys71Cys synonymous AMN1 2 82250 2.43161E-5 41125 0 2.69382E-5
12-31854907-C-T p.Arg69Gln missense AMN1 2 82214 2.43268E-5 41107 0 3.18593E-5
12-31854908-G-A p.Arg69Trp missense AMN1 3 82242 3.64777E-5 41121 0 9.06783E-6
12-31854909-T-C c.-397A>G 5_prime_UTR_premature_start_codon_gain AMN1 2 82254 2.43149E-5 41127 0 NA
12-31854942-C-A c.172-1G>T splice_acceptor AMN1 1 81720 1.22369E-5 40860 0 NA
12-31854943-T-TCACTTATATTTGAATCTGTTATCTGTCCCTGC c.172-3_172-2insGCAGGGACAGATAACAGATTCAAATATAAGTG splice_region AMN1 1 81690 1.22414E-5 40845 0 NA
12-31854944-A-G c.172-3T>C splice_region AMN1 70 81658 8.57234E-4 40829 0 0.00194181
12-31861855-T-C p.Thr95Ala missense AMN1 1 7988 1.25188E-4 3994 0 NA
12-31861866-T-C p.Asn91Ser missense AMN1 1 8158 1.22579E-4 4079 0 NA
12-31861867-T-C p.Asn91Asp missense AMN1 1 8158 1.22579E-4 4079 0 NA
12-31861867-TT-CC p.GlnAsn90GlnAsp missense AMN1 1 8158 1.22579E-4 4079 0 NA
12-31861877-T-C p.Ser87Ser synonymous AMN1 1 8554 1.16904E-4 4277 0 NA
12-31861879-A-T p.Ser87Thr missense AMN1 1 8620 1.16009E-4 4310 0 3.18573E-5
12-31861883-G-A p.Ser85Ser synonymous AMN1 5 8726 5.73E-4 4363 0 0.00612245
12-31861902-C-T p.Arg79Gln missense AMN1 1 9334 1.07135E-4 4667 0 3.19509E-4
12-31861903-G-A p.Arg79Trp missense AMN1 5 9378 5.33163E-4 4689 0 5.74933E-4
12-31861906-G-T p.Leu78Ile missense AMN1 5 9600 5.20833E-4 4800 0 0.00117985
12-31861929-T-C p.His70Arg missense AMN1 1 11412 8.76271E-5 5706 0 7.26247E-5
12-31861938-C-G p.Gly67Ala missense AMN1 2 12696 1.5753E-4 6348 0 0.00191205
12-31861938-CCT-C p.Gly67fs frameshift AMN1 6 12698 4.72515E-4 6349 0 9.07917E-5
12-31861984-C-T n.299+3G>A splice_region AMN1 1 27348 3.65657E-5 13674 0 6.38284E-5
12-31862032-C-G p.Asp63His missense AMN1 139 43386 0.0032038 21693 0 0.00469169
12-31862036-G-A p.Cys61Cys synonymous AMN1 2 44212 4.52366E-5 22106 0 7.5807E-6
12-31862040-C-T p.Arg60His missense AMN1 2 45200 4.42478E-5 22600 0 1.63292E-4
12-31862041-G-A p.Arg60Cys missense AMN1 9 46378 1.94058E-4 23189 0 6.73854E-4
12-31862056-C-T p.Ala55Thr missense AMN1 2 52020 3.84468E-5 26010 0 6.38162E-5
12-31862057-T-C p.Ser54Ser synonymous AMN1 5 52584 9.5086E-5 26292 0 NA
12-31862062-TT-CC p.AlaIle52AlaVal missense AMN1 1 54002 1.85178E-5 27001 0 NA
12-31862062-T-C p.Ile53Val missense AMN1 2 54000 3.7037E-5 27000 0 7.4509E-6
12-31862071-TGT-CGC p.TyrSer49CysGly missense AMN1 1 56774 1.76137E-5 28387 0 NA
12-31862071-T-C p.Ser50Gly missense AMN1 1 56772 1.76143E-5 28386 0 3.19428E-5
12-31862073-T-C p.Tyr49Cys missense AMN1 4 57266 6.98495E-5 28633 0 6.39877E-5
12-31862090-C-T p.Pro43Pro synonymous AMN1 2 62310 3.20976E-5 31155 0 1.9232E-4
12-31862099-A-G p.Gly40Gly splice_region+synonymous AMN1 2 67350 2.96956E-5 33675 0 1.54378E-5
12-31862104-G-A n.221-3C>T splice_region AMN1 1 70122 1.42609E-5 35061 0 NA
12-31862107-T-TA n.221-7_221-6insT splice_region AMN1 2670 64324 0.0415086 32162 17 0.247168
12-31862107-TA-T n.221-7delT splice_region AMN1 190 68586 0.00277024 34293 0 0.12737
12-31862107-T-TAA n.221-7_221-6insTT splice_region AMN1 10 72066 1.38762E-4 36033 0 0.00309558
12-31862107-TAA-T n.221-8_221-7delTT splice_region AMN1 1 72092 1.38712E-5 36046 0 9.02876E-4
12-31862236-A-G p.Asn54Asn synonymous AMN1 1 82432 1.21312E-5 41216 0 NA
12-31862256-C-T p.Gly48Arg missense AMN1 2 82462 2.42536E-5 41231 0 NA
12-31862260-C-A p.Met46Ile missense AMN1 1 82460 1.21271E-5 41230 0 4.01448E-6
12-31862262-T-C p.Met46Val missense AMN1 1 82468 1.21259E-5 41234 0 3.31813E-5
12-31862264-C-G p.Ser45Thr missense AMN1 2 82458 2.42548E-5 41229 0 1.65901E-5
12-31862269-T-G p.Ile43Ile synonymous AMN1 1 82472 1.21253E-5 41236 0 4.01429E-6
12-31862293-G-T p.Asn35Lys missense AMN1 1 82482 1.21239E-5 41241 0 NA
12-31862300-G-T p.Pro33His missense AMN1 1 82474 1.2125E-5 41237 0 NA
12-31862326-T-A p.Arg24Ser missense AMN1 1 82440 1.213E-5 41220 0 8.69701E-6
12-31862331-A-T p.Ser23Thr missense AMN1 2 82402 2.42713E-5 41201 0 6.3674E-5
12-31862345-A-G p.Phe18Ser missense AMN1 1 82334 1.21457E-5 41167 0 NA
12-31862352-A-G p.Trp16Arg missense AMN1 1 82298 1.2151E-5 41149 0 5.15167E-5
12-31862364-A-ACAGAAAGAAGTCACTGCCACC c.39-6_39-5insGGTGGCAGTGACTTCTTTCTG splice_region AMN1 1 82182 1.21681E-5 41091 0 NA
12-31867813-T-A c.-17+3A>T splice_region AMN1 1 31484 3.17622E-5 15742 0 NA
12-31867888-G-A c.-86-3C>T splice_region AMN1 2 36670 5.45405E-5 18335 0 6.37024E-5
12-31867889-G-C c.-86-4C>G splice_region AMN1 1 36492 2.74033E-5 18246 0 NA
12-31872151-C-T c.-87+1G>A splice_donor AMN1 54 15660 0.00344828 7830 0 0.00840604
12-31872191-A-G c.-126T>C 5_prime_UTR_premature_start_codon_gain AMN1 4 20608 1.94099E-4 10304 0 3.18654E-5
12-31872214-G-C c.-149C>G 5_prime_UTR_premature_start_codon_gain AMN1 1 22242 4.496E-5 11121 0 NA
12-31872253-A-G c.-188T>C 5_prime_UTR_premature_start_codon_gain AMN1 1 23436 4.26694E-5 11718 0 NA
12-31872268-T-C c.-203A>G 5_prime_UTR_premature_start_codon_gain AMN1 1 23526 4.25062E-5 11763 0 NA
12-31881912-G-A c.-233C>T 5_prime_UTR_premature_start_codon_gain AMN1 1 78388 1.27571E-5 39194 0 NA
12-31881924-C-A c.-17+1G>T splice_donor AMN1 1 78658 1.27133E-5 39329 0 NA
12-31881924-C-T c.-17+1G>A splice_donor AMN1 1 78658 1.27133E-5 39329 0 NA
12-31881930-G-T p.Arg5Arg synonymous AMN1 8 78654 1.01711E-4 39327 0 3.18674E-4
12-31881930-G-A p.Arg5Trp missense AMN1 1 78654 1.27139E-5 39327 0 NA
12-31881934-G-C p.Arg3Arg synonymous AMN1 24 78674 3.05056E-4 39337 0 5.7376E-4
12-31881936-G-T p.Arg3Ser missense AMN1 1 78696 1.27071E-5 39348 0 NA
12-31881940-C-A p.Met1? start_lost AMN1 1 78740 1.27E-5 39370 0 3.18552E-5
12-31881952-G-A c.-10C>T 5_prime_UTR_premature_start_codon_gain AMN1 1 78966 1.26637E-5 39483 0 1.9118E-4
12-31881955-T-A c.-13A>T 5_prime_UTR_premature_start_codon_gain AMN1 1 79038 1.26521E-5 39519 0 NA
12-31881984-C-A c.-42G>T 5_prime_UTR_premature_start_codon_gain AMN1 334 79464 0.00420316 39732 2 0.00875
12-31881993-G-A c.-51C>T 5_prime_UTR_premature_start_codon_gain AMN1 1 79242 1.26196E-5 39621 0 NA
12-31882003-G-A c.-61C>T 5_prime_UTR_premature_start_codon_gain AMN1 1 78634 1.27171E-5 39317 0 3.18674E-5
12-31882022-C-A c.-80G>T 5_prime_UTR_premature_start_codon_gain AMN1 1 78346 1.27639E-5 39173 0 NA
12-31882054-C-T c.-112G>A 5_prime_UTR_premature_start_codon_gain AMN1 3 77232 3.8844E-5 38616 0 NA
12-31882054-C-G c.-112G>C 5_prime_UTR_premature_start_codon_gain AMN1 1 77232 1.2948E-5 38616 0 NA