Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-141255250-T-C c.-14-3T>C splice_region AGK 28 83138 3.36789E-4 41569 0 0.00312891
7-141255271-C-T p.Thr2Met missense AGK 1 83252 1.20117E-5 41626 0 3.18552E-5
7-141255272-G-A p.Thr2Thr synonymous AGK 1 83248 1.20123E-5 41624 0 1.65292E-5
7-141255278-C-G p.Phe4Leu missense AGK 1 83318 1.20022E-5 41659 0 NA
7-141255283-A-G p.Lys6Arg missense AGK 242 83328 0.00290419 41664 0 0.00503525
7-141255286-C-T p.Thr7Met missense AGK 6 83332 7.20012E-5 41666 0 5.03525E-4
7-141255291-C-T p.Arg9* stop_gained AGK 4 83342 4.7995E-5 41671 0 6.36983E-5
7-141255292-G-A p.Arg9Gln missense AGK 11 83342 1.31986E-4 41671 0 0.00375
7-141255295-A-G p.Asn10Ser missense AGK 47 83350 5.63887E-4 41675 0 0.00143358
7-141255299-C-A p.His11Gln missense AGK 1 83366 1.19953E-5 41683 0 NA
7-141255308-A-G p.Lys14Lys synonymous AGK 1 83370 1.19947E-5 41685 0 6.25E-4
7-141255313-C-T p.Thr16Ile missense AGK 2 83372 2.39889E-5 41686 0 7.95634E-6
7-141255314-A-G p.Thr16Thr synonymous AGK 5 83372 5.99722E-5 41686 0 4.94674E-5
7-141255321-C-T p.Leu19Phe missense AGK 8 83360 9.59693E-5 41680 0 0.001875
7-141255336-T-G p.Trp24Gly missense AGK 2 83348 2.39958E-5 41674 0 NA
7-141255344-C-G p.Gly26Gly synonymous AGK 1 83318 1.20022E-5 41659 0 8.25151E-6
7-141255356-T-C p.Met1? start_lost AGK 1 83292 1.2006E-5 41646 0 NA
7-141255357-G-A p.Met1? start_lost AGK 2 83286 2.40136E-5 41643 0 3.99313E-6
7-141255364-A-G p.His33Arg missense AGK 3 83262 3.60308E-5 41631 0 2.48077E-5
7-141255365-C-G p.His33Gln missense+splice_region AGK 1 83260 1.20106E-5 41630 0 NA
7-141255367-G-GT c.101_101+1insT splice_donor AGK 1 83246 1.20126E-5 41623 0 NA
7-141255367-G-GTGATAACCTCCTAAGGAGAGCAGCCT c.101_101+1insTGATAACCTCCTAAGGAGAGCAGCCT splice_donor AGK 1 83246 1.20126E-5 41623 0 NA
7-141255368-G-GTAAC c.101+1_101+2insTAAC splice_donor AGK 2 83230 2.40298E-5 41615 0 3.18451E-5
7-141255372-C-T c.101+5C>T splice_region AGK 106 83208 0.00127392 41604 1 0.00334331
7-141255374-A-C c.101+7A>C splice_region AGK 1 83176 1.20227E-5 41588 0 4.14353E-5
7-141255374-ATC-A c.101+8_101+9delTC splice_region AGK 1 83176 1.20227E-5 41588 0 NA
7-141292943-T-C c.102-3T>C splice_region AGK 2 82860 2.41371E-5 41430 0 8.35883E-6
7-141292945-G-A c.102-1G>A splice_acceptor AGK 1 82880 1.20656E-5 41440 0 NA
7-141292948-A-T p.Asp35Val missense+splice_region AGK 1 82916 1.20604E-5 41458 0 NA
7-141292952-C-A p.Asn36Lys missense AGK 4 82934 4.82311E-5 41467 0 0.00125786
7-141292957-T-C p.Leu38Pro missense AGK 1 82966 1.20531E-5 41483 0 NA
7-141292984-A-G p.Gln47Arg missense+splice_region AGK 1 82958 1.20543E-5 41479 0 1.19573E-5
7-141292989-A-G c.141+4A>G splice_region AGK 1 82938 1.20572E-5 41469 0 NA
7-141293110-T-A p.Tyr49* stop_gained AGK 1 76314 1.31038E-5 38157 0 3.18512E-5
7-141293112-A-G p.Gln50Arg missense AGK 6 76030 7.89162E-5 38015 0 3.65604E-5
7-141293114-G-A p.Asp51Asn missense AGK 1 75708 1.32086E-5 37854 0 NA
7-141293115-A-G p.Asp51Gly missense AGK 1 75486 1.32475E-5 37743 0 3.65551E-5
7-141293117-G-T p.Glu52* stop_gained AGK 2 75046 2.66503E-5 37523 0 6.37064E-5
7-141293123-C-T p.Arg54Cys missense AGK 8 73696 1.08554E-4 36848 0 5.86228E-5
7-141293124-G-A p.Arg54His missense AGK 13 73402 1.77107E-4 36701 0 6.37105E-5
7-141293124-G-T p.Arg54Leu missense AGK 1 73402 1.36236E-5 36701 0 6.51525E-6
7-141293136-C-T p.Thr58Ile missense AGK 15 71626 2.09421E-4 35813 0 2.95354E-4
7-141293140-G-T p.Leu59Leu synonymous AGK 1 70966 1.40913E-5 35483 0 NA
7-141293153-G-C p.Gly64Arg missense AGK 1 69082 1.44756E-5 34541 0 NA
7-141296358-T-C c.142-4T>C splice_region AGK 1 82910 1.20613E-5 41455 0 8.24185E-6
7-141296365-T-G p.Phe49Val missense AGK 4 82970 4.82102E-5 41485 0 1.07133E-4
7-141296394-A-G p.His45Arg missense AGK 2 83072 2.40755E-5 41536 0 1.1936E-5
7-141296400-G-A p.Ter47Ter stop_retained AGK 1 83074 1.20375E-5 41537 0 5.03525E-4
7-141296406-G-T p.Lys62Asn missense AGK 8 83064 9.63113E-5 41532 1 0.00125
7-141296407-G-A p.Ala63Thr missense AGK 1 83062 1.20392E-5 41531 0 NA
7-141296410-A-G p.Thr64Ala missense AGK 2 83074 2.40749E-5 41537 0 3.58055E-5
7-141296432-C-T p.Ala71Val missense AGK 2 83016 2.40917E-5 41508 0 1.6478E-5
7-141296449-C-T c.221+8C>T splice_region AGK 3 82900 3.61882E-5 41450 0 2.78651E-5
7-141301006-A-G p.Lys75Glu missense+splice_region AGK 3 82070 3.65542E-5 41035 0 NA
7-141301014-G-A p.Gly74Gly splice_region+synonymous AGK 2 82168 2.43404E-5 41084 0 NA
7-141301015-A-G p.Thr75Ala missense+splice_region AGK 1 82158 1.21717E-5 41079 0 3.99476E-6
7-141301022-T-G p.Phe80Cys missense AGK 1 82258 1.21569E-5 41129 0 3.99326E-6
7-141301040-C-T p.Pro86Leu missense AGK 1 82242 1.21592E-5 41121 0 2.48789E-5
7-141301041-G-C p.Pro86Pro synonymous AGK 1 82262 1.21563E-5 41131 0 NA
7-141301060-A-G p.Met93Val missense AGK 1 82234 1.21604E-5 41117 0 3.99081E-6
7-141301066-G-A p.Val95Met missense AGK 2 82156 2.43439E-5 41078 0 7.99054E-6
7-141301072-A-G p.Ile97Val missense AGK 3 82060 3.65586E-5 41030 0 3.3195E-5
7-141311024-C-T p.Leu109Leu synonymous AGK 2 83104 2.40662E-5 41552 0 9.55657E-5
7-141311028-G-C p.Glu111Gln missense AGK 7 83112 8.42237E-5 41556 0 5.03525E-4
7-141311028-G-A p.Glu111Lys missense AGK 1 83112 1.2032E-5 41556 0 6.36902E-5
7-141311034-A-C p.Met113Leu missense AGK 2 83124 2.40604E-5 41562 0 3.98165E-6
7-141311040-A-C p.Asn115His missense AGK 4 83124 4.81209E-5 41562 0 1.99079E-5
7-141311044-C-T p.Thr116Met missense AGK 1 83114 1.20317E-5 41557 0 3.18512E-5
7-141311050-T-G p.Val118Gly missense AGK 3 83140 3.60837E-5 41570 0 NA
7-141311070-G-C p.Asp125His missense AGK 1 83082 1.20363E-5 41541 0 3.9846E-5
7-141311087-G-C p.Glu130Asp missense+splice_region AGK 2 82988 2.40999E-5 41494 0 1.75577E-5
7-141311088-G-T c.390+1G>T splice_donor AGK 1 82930 1.20584E-5 41465 0 NA
7-141311091-T-A c.390+4T>A splice_region AGK 4 82886 4.82591E-5 41443 0 8.87989E-6
7-141313956-G-A p.Gly134Asp missense AGK 1 80406 1.24369E-5 40203 0 3.19061E-5
7-141313965-G-A p.Arg137Gln missense AGK 8 80194 9.97581E-5 40097 0 5.05041E-5
7-141313971-C-G p.Thr139Arg missense AGK 48 80292 5.97818E-4 40146 0 0.0014027
7-141315263-C-T c.424-8C>T splice_region AGK 2 82814 2.41505E-5 41407 0 6.25782E-4
7-141315265-C-A c.424-6C>A splice_region AGK 2 82874 2.4133E-5 41437 0 6.37105E-5
7-141315265-C-G c.424-6C>G splice_region AGK 3 82874 3.61995E-5 41437 0 9.55657E-5
7-141315266-C-T c.424-5C>T splice_region AGK 92 82876 0.00111009 41438 0 0.00216561
7-141315266-C-A c.424-5C>A splice_region AGK 4 82878 4.82637E-5 41439 0 0.00125313
7-141315266-C-G c.424-5C>G splice_region AGK 6 82880 7.23938E-5 41440 0 6.26959E-4
7-141315267-C-G c.424-4C>G splice_region AGK 137 82888 0.00165283 41444 2 0.00308957
7-141315267-C-A c.424-4C>A splice_region AGK 28 82896 3.37773E-4 41448 0 7.32577E-4
7-141315267-C-T c.424-4C>T splice_region AGK 6 82896 7.23799E-5 41448 0 6.37024E-5
7-141315268-C-A c.424-3C>A splice_region AGK 3 82920 3.61795E-5 41460 0 1.64889E-5
7-141315268-C-T c.424-3C>T splice_region AGK 2 82920 2.41196E-5 41460 0 4.94666E-5
7-141315268-C-G c.424-3C>G splice_region AGK 2 82920 2.41196E-5 41460 0 4.94666E-5
7-141315285-G-T p.Lys146Asn missense AGK 1 83082 1.20363E-5 41541 0 1.64777E-5
7-141315292-A-G p.Ile149Val missense AGK 7 83084 8.42521E-5 41542 0 9.55901E-5
7-141315293-T-C p.Ile149Thr missense AGK 2 83086 2.40714E-5 41543 0 6.25E-4
7-141315303-C-T p.Ile152Ile synonymous AGK 1 83152 1.20262E-5 41576 0 NA
7-141315304-C-G p.Pro153Ala missense AGK 3 83148 3.60802E-5 41574 0 8.2375E-6
7-141315319-A-G p.Ser158Gly missense AGK 1 83170 1.20236E-5 41585 0 NA
7-141315345-C-T p.Ala166Ala synonymous AGK 5 83166 6.01207E-5 41583 0 5.05051E-4
7-141315346-G-A p.Glu167Lys missense AGK 4 83176 4.80908E-5 41588 0 1.91071E-4
7-141315352-G-A p.Gly169Arg missense AGK 1 83172 1.20233E-5 41586 0 8.23737E-6
7-141315355-A-G p.Asn170Asp missense AGK 1 83166 1.20241E-5 41583 0 3.97902E-6
7-141315358-A-G p.Lys171Glu missense AGK 3 83138 3.60846E-5 41569 0 1.64758E-5
7-141315365-A-AACATATTACTGATGCCACACTTGCCATT c.518_518+1insACATATTACTGATGCCACACTTGCCATT splice_donor AGK 2 83092 2.40697E-5 41546 1 NA
7-141315369-G-C c.518+4G>C splice_region AGK 1 83052 1.20406E-5 41526 0 NA
7-141315370-G-A n.285+1G>A splice_donor AGK 1 83044 1.20418E-5 41522 0 NA
7-141321525-CTT-C c.519-6_519-5delTT splice_region AGK 11 82490 1.3335E-4 41245 0 2.23072E-4
7-141321527-T-C c.519-5T>C splice_region AGK 8 82550 9.6911E-5 41275 0 3.98616E-5
7-141321538-T-C p.Ile175Ile synonymous AGK 3 82700 3.62757E-5 41350 0 1.19451E-5
7-141321575-G-A p.Val188Ile missense AGK 4 82854 4.82777E-5 41427 0 3.18512E-5
7-141333694-C-G c.589-7C>G splice_region AGK 4 83078 4.81475E-5 41539 0 NA
7-141333705-A-G p.Glu198Gly missense AGK 1 83162 1.20247E-5 41581 0 8.26187E-6
7-141333710-G-A p.Glu200Lys missense AGK 1 83164 1.20244E-5 41582 0 NA
7-141333723-T-C p.Phe204Ser missense AGK 2 83208 2.40361E-5 41604 0 7.95773E-6
7-141333725-G-A p.Ala205Thr missense AGK 1 83202 1.20189E-5 41601 0 NA
7-141333726-C-T p.Ala205Val missense AGK 1 83196 1.20198E-5 41598 0 NA
7-141333727-A-G p.Ala205Ala synonymous AGK 1 83194 1.20201E-5 41597 0 7.9576E-6
7-141333730-G-T p.Met206Ile missense AGK 1 83196 1.20198E-5 41598 0 NA
7-141333731-A-G p.Thr207Ala missense AGK 10 83182 1.20218E-4 41591 0 6.25E-4
7-141333733-C-T p.Thr207Thr synonymous AGK 5 83192 6.01019E-5 41596 0 1.47221E-4
7-141333734-G-A p.Gly208Ser missense AGK 4 83184 4.80862E-5 41592 0 1.91022E-4
7-141333743-T-C p.Trp211Arg missense AGK 1 83174 1.2023E-5 41587 0 7.95855E-6
7-141333746-G-C p.Gly212Arg missense AGK 1 83186 1.20213E-5 41593 0 NA
7-141333762-C-G p.Ala217Gly missense AGK 1 83128 1.20296E-5 41564 0 3.18431E-5
7-141333765-G-C p.Gly218Ala missense AGK 1 83112 1.2032E-5 41556 0 1.65314E-5
7-141333767-G-A p.Val219Ile missense AGK 7 83070 8.42663E-5 41535 0 1.27364E-4
7-141333783-A-ACTGGTATCTTGGGCCTCTAAAAATC c.668+3_668+4insCTGGTATCTTGGGCCTCTAAAAATC splice_region AGK 2 82930 2.41167E-5 41465 1 NA
7-141336756-A-G c.669-4A>G splice_region AGK 2 82538 2.42313E-5 41269 0 NA
7-141336763-C-A p.Tyr224* stop_gained AGK 1 82586 1.21086E-5 41293 0 3.18654E-5
7-141336775-G-A p.Gly228Gly synonymous AGK 8 82704 9.67305E-5 41352 0 6.37349E-5
7-141336779-C-G p.Leu230Val missense AGK 1 82734 1.20869E-5 41367 0 NA
7-141336786-T-C p.Ile232Thr missense AGK 1 82760 1.20831E-5 41380 0 NA
7-141336804-T-G p.Phe238Cys missense AGK 3 82814 3.62258E-5 41407 0 3.18492E-5
7-141336808-C-G p.Ser239Arg missense AGK 1 82816 1.2075E-5 41408 0 6.25E-4
7-141336824-G-T c.726+7G>T splice_region AGK 1 82704 1.20913E-5 41352 0 NA
7-141341047-GGAGTGGCCTCA-G p.Glu243fs frameshift AGK 2 83226 2.4031E-5 41613 0 NA
7-141341048-G-C p.Glu243Gln missense+splice_region AGK 1 83220 1.20163E-5 41610 0 NA
7-141341063-C-T p.His248Tyr missense AGK 24 83266 2.88233E-4 41633 0 1.59297E-4
7-141341064-A-C p.His248Pro missense AGK 31 83270 3.72283E-4 41635 0 7.0086E-4
7-141341065-T-C p.His248His synonymous AGK 1 83266 1.20097E-5 41633 0 NA
7-141341072-T-C p.Ser251Pro missense AGK 1 83288 1.20065E-5 41644 0 NA
7-141341085-C-T p.Thr255Met missense AGK 7 83288 8.40457E-5 41644 0 1.40352E-4
7-141341086-G-C p.Thr255Thr synonymous AGK 1 83286 1.20068E-5 41643 0 3.98153E-6
7-141341097-A-G p.Glu259Gly missense AGK 1 83278 1.2008E-5 41639 0 3.18532E-5
7-141341103-C-G p.Pro261Arg missense AGK 1 83270 1.20091E-5 41635 0 3.97981E-6
7-141341109-A-G p.Asn263Ser missense AGK 5 83274 6.00428E-5 41637 0 1.91083E-4
7-141341124-C-A p.Thr268Asn missense AGK 97 83266 0.00116494 41633 0 0.003125
7-141341125-C-T p.Thr268Thr synonymous AGK 37 83268 4.44348E-4 41634 0 0.001875
7-141341126-C-T p.Pro269Ser missense AGK 2 83270 2.40183E-5 41635 0 3.18492E-5
7-141341130-T-TA p.Gln271fs frameshift AGK 1 83262 1.20103E-5 41631 0 NA
7-141341144-T-C p.Leu275Leu synonymous AGK 1 83252 1.20117E-5 41626 0 7.96223E-6
7-141341149-C-T p.Tyr276Tyr synonymous AGK 1 83262 1.20103E-5 41631 0 3.98352E-6
7-141341162-C-T p.Arg281* stop_gained AGK 1 83264 1.201E-5 41632 0 8.27787E-6
7-141341166-G-A p.Arg282Lys missense AGK 1 83270 1.20091E-5 41635 0 NA
7-141341168-C-T p.Leu283Phe missense AGK 2 83266 2.40194E-5 41633 0 3.31521E-5
7-141341173-G-A p.Ala284Ala synonymous AGK 10 83288 1.20065E-4 41644 0 1.27437E-4
7-141341190-C-A p.Pro290Gln missense AGK 2 83270 2.40183E-5 41635 0 NA
7-141341192-C-T p.Gln291* stop_gained AGK 2 83266 2.40194E-5 41633 0 4.03636E-6
7-141341605-C-T c.878-6C>T splice_region AGK 1 82028 1.2191E-5 41014 0 NA
7-141341613-C-A p.Leu294Ile missense+splice_region AGK 6 82126 7.30585E-5 41063 0 7.05916E-5
7-141341629-G-C p.Ser299Thr missense AGK 1 82252 1.21578E-5 41126 0 9.43871E-5
7-141341632-C-T p.Pro300Leu missense AGK 1 82246 1.21586E-5 41123 0 9.23645E-5
7-141341633-G-T p.Pro300Pro synonymous AGK 1 82288 1.21524E-5 41144 0 NA
7-141341633-G-A p.Pro300Pro synonymous AGK 2 82286 2.43055E-5 41143 0 NA
7-141341636-G-A p.Glu301Glu synonymous AGK 1 82294 1.21516E-5 41147 0 NA
7-141341673-T-A p.Ser314Thr missense AGK 1 82272 1.21548E-5 41136 0 NA
7-141341678-C-T p.Ile315Ile synonymous AGK 1 82272 1.21548E-5 41136 0 NA
7-141341683-C-G p.Thr317Arg missense AGK 2 82248 2.43167E-5 41124 0 NA
7-141341685-C-T p.Arg318Trp missense AGK 2 82220 2.4325E-5 41110 0 6.36821E-5
7-141341686-G-A p.Arg318Gln missense AGK 1 82246 1.21586E-5 41123 0 5.55062E-5
7-141341687-G-A p.Arg318Arg synonymous AGK 2 82222 2.43244E-5 41111 0 0.00857719
7-141341697-C-A p.Leu322Ile missense AGK 1 82196 1.2166E-5 41098 0 NA
7-141341702-C-T p.Asp323Asp synonymous AGK 2 82262 2.43126E-5 41131 0 5.22139E-6
7-141341704-C-T p.Pro324Leu missense AGK 3 82276 3.64626E-5 41138 0 1.0482E-5
7-141341705-G-A p.Pro324Pro synonymous AGK 5 82296 6.07563E-5 41148 0 6.37227E-5
7-141341706-A-ACAAGCAAAGAAGATTTTCTGAATATCTGCATTGAACCTGACACCAT c.975_975+1insAGCAAAGAAGATTTTCTGAATATCTGCATTGAACCTGACACCATCA splice_donor AGK 2 82294 2.43031E-5 41147 1 NA
7-141349066-AAAG-A p.Glu328del disruptive_inframe_deletion AGK 1 82674 1.20957E-5 41337 0 2.49277E-5
7-141349091-T-C p.Ile335Thr missense AGK 1 82756 1.20837E-5 41378 0 1.66014E-5
7-141349096-C-T p.Pro337Ser missense AGK 2 82728 2.41756E-5 41364 0 NA
7-141349107-C-T p.Ile340Ile synonymous AGK 3 82712 3.62704E-5 41356 0 6.25E-4
7-141349121-TTATAAC-T p.Thr347_Ile348del conservative_inframe_deletion AGK 14 82564 1.69565E-4 41282 0 2.86734E-4
7-141349129-A-G p.Ile348Val missense AGK 5 82404 6.06767E-5 41202 0 7.99092E-6
7-141349131-A-AGG p.Ile346fs frameshift AGK 1 82428 1.21318E-5 41214 0 NA
7-141349133-G-GAA c.1046_1046+1insAA splice_donor AGK 2 82398 2.42724E-5 41199 0 NA
7-141351321-A-C c.1047-4A>C splice_region AGK 1 83136 1.20285E-5 41568 0 2.4759E-5
7-141351330-G-C p.Arg351Pro missense AGK 1 83162 1.20247E-5 41581 0 8.24647E-6
7-141351330-G-A p.Arg351Gln missense AGK 22 83160 2.6455E-4 41580 0 1.64929E-4
7-141351331-A-C p.Arg351Arg synonymous AGK 1 83174 1.2023E-5 41587 0 7.95323E-6
7-141351344-C-A p.Pro356Thr missense AGK 3 83184 3.60646E-5 41592 0 1.59067E-5
7-141351356-G-A p.Val360Met missense AGK 1 83186 1.20213E-5 41593 0 7.95311E-6
7-141351366-C-T p.Thr363Met missense AGK 125 83146 0.00150338 41573 1 6.9202E-4
7-141351367-G-A p.Thr363Thr synonymous AGK 3 83170 3.60707E-5 41585 0 3.97684E-5
7-141351371-T-C p.Cys365Arg missense AGK 1 83150 1.20265E-5 41575 0 NA
7-141351376-C-A p.Leu366Leu synonymous AGK 5 83166 6.01207E-5 41583 0 1.19312E-5
7-141351385-C-T p.Ser369Ser synonymous AGK 2 83144 2.40547E-5 41572 0 NA
7-141351388-G-A p.Gln370Gln synonymous AGK 1 83128 1.20296E-5 41564 0 5.04032E-4
7-141351389-T-G p.Cys371Gly missense AGK 1 83126 1.20299E-5 41563 0 NA
7-141351392-A-G p.Thr372Ala missense AGK 2 83096 2.40685E-5 41548 0 8.24294E-6
7-141351405-C-T p.Pro376Leu missense AGK 4 82982 4.82032E-5 41491 0 4.12385E-5
7-141351408-A-G p.Glu377Gly missense+splice_region AGK 1 82952 1.20552E-5 41476 0 NA
7-141352591-CA-C p.Gly381fs frameshift AGK 1 82490 1.21227E-5 41245 0 1.19688E-5
7-141352591-C-T p.Ala379Val missense AGK 1 82490 1.21227E-5 41245 0 8.24185E-6
7-141352592-A-G p.Ala379Ala synonymous AGK 1 82566 1.21115E-5 41283 0 NA
7-141352603-T-C p.Phe383Ser missense AGK 2 82896 2.41266E-5 41448 0 6.37186E-5
7-141352603-TTAGCA-T p.Ser384fs frameshift AGK 1 82896 1.20633E-5 41448 0 3.18593E-5
7-141352630-C-T p.Ala392Val missense AGK 3 83260 3.60317E-5 41630 0 4.94218E-5
7-141352644-G-A p.Val397Met missense AGK 8 83292 9.60476E-5 41646 0 0.0020141
7-141352652-G-A p.Leu399Leu synonymous AGK 3 83308 3.60109E-5 41654 0 7.41302E-5
7-141352655-C-T p.Leu400Leu synonymous AGK 2 83312 2.40061E-5 41656 0 NA
7-141352689-AAG-A p.Glu414fs frameshift AGK 2 83308 2.40073E-5 41654 0 1.64823E-5
7-141352689-A-G p.Lys412Glu missense AGK 1 83308 1.20036E-5 41654 0 NA
7-141352701-AT-A p.Met416fs frameshift AGK 2 83290 2.40125E-5 41645 0 6.59511E-5
7-141352702-T-G p.Met416Arg missense AGK 1 83290 1.20062E-5 41645 0 NA
7-141352722-T-A p.Ter423Argext*? stop_lost AGK 1 83240 1.20135E-5 41620 0 NA
7-141352723-G-A p.Ter423Ter stop_retained AGK 1 83242 1.20132E-5 41621 0 NA
7-141352724-A-G p.Ter423Trpext*? stop_lost AGK 2 83238 2.40275E-5 41619 0 1.65112E-5
7-141352865-C-T n.567C>T splice_region AGK 574 73090 0.00785333 36545 1 0.0175919
7-141352865-C-G n.567C>G splice_region AGK 2 73182 2.73291E-5 36591 0 NA