Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-131456809-C-T c.-95C>T 5_prime_UTR_premature_start_codon_gain AKAP7 8 26984 2.96472E-4 13492 0 9.82962E-4
6-131456822-C-T c.-82C>T 5_prime_UTR_premature_start_codon_gain AKAP7 3 28172 1.06489E-4 14086 0 NA
6-131456822-C-G c.-82C>G 5_prime_UTR_premature_start_codon_gain AKAP7 1 28172 3.54962E-5 14086 0 NA
6-131456840-C-T c.-64C>T 5_prime_UTR_premature_start_codon_gain AKAP7 1 28980 3.45066E-5 14490 0 NA
6-131456905-T-A p.Met1? start_lost AKAP7 1 30074 3.32513E-5 15037 0 NA
6-131456920-C-T p.Ala6Val missense+splice_region AKAP7 4 30344 1.31822E-4 15172 0 NA
6-131456930-C-T c.19+8C>T splice_region AKAP7 33 30476 0.00108282 15238 0 0.00154849
6-131466417-T-C n.375-8T>C splice_region AKAP7 2 79526 2.5149E-5 39763 0 5.17224E-6
6-131466421-A-G n.375-4A>G splice_region AKAP7 4 80338 4.97896E-5 40169 0 8.83221E-6
6-131466429-A-T p.Gly7Gly splice_region+synonymous AKAP7 1 80656 1.23983E-5 40328 0 NA
6-131466434-A-C p.Asn10Thr missense AKAP7 1 80990 1.23472E-5 40495 0 4.62347E-6
6-131466437-C-A p.Ser11Tyr missense AKAP7 1 81000 1.23457E-5 40500 0 4.66066E-6
6-131466440-A-G p.Asn12Ser missense AKAP7 1 81086 1.23326E-5 40543 0 5.03525E-4
6-131466445-T-C p.Cys14Arg missense AKAP7 4 81460 4.91039E-5 40730 0 4.44452E-4
6-131466454-G-A p.Val17Ile missense AKAP7 2 81476 2.45471E-5 40738 0 0.001875
6-131466454-G-C p.Val17Leu missense AKAP7 1 81476 1.22736E-5 40738 0 NA
6-131466480-G-A p.Glu3Glu synonymous AKAP7 3 82020 3.65764E-5 41010 0 NA
6-131466481-G-A p.Glu4Lys missense AKAP7 645 82002 0.00786566 41001 23 0.0165487
6-131466490-G-T p.Ala7Ser missense AKAP7 1 82046 1.21883E-5 41023 0 NA
6-131466491-C-G p.Ala7Gly missense AKAP7 3 82036 3.65693E-5 41018 0 1.65006E-5
6-131466493-A-G p.Asn8Asp missense AKAP7 1 82088 1.2182E-5 41044 0 4.20422E-6
6-131466496-A-G p.Thr9Ala missense AKAP7 2 82112 2.4357E-5 41056 0 1.2619E-5
6-131466506-C-T p.Ser12Phe missense AKAP7 5 82042 6.09444E-5 41021 0 1.40227E-4
6-131466512-T-C p.Val14Ala missense AKAP7 1 82000 1.21951E-5 41000 0 NA
6-131466524-T-C p.Phe18Ser missense AKAP7 2 81604 2.45086E-5 40802 0 8.58804E-6
6-131466537-T-G p.Asp22Glu missense AKAP7 6 81034 7.4043E-5 40517 0 1.20596E-4
6-131466539-T-C p.Ile23Thr missense AKAP7 13 80836 1.60819E-4 40418 0 7.63338E-5
6-131466539-T-A p.Ile23Asn missense AKAP7 1 80836 1.23707E-5 40418 0 3.18532E-5
6-131466544-G-T p.Asp25Tyr missense AKAP7 1 80588 1.24088E-5 40294 0 3.18593E-5
6-131466546-T-C p.Asp25Asp synonymous AKAP7 6 80510 7.45249E-5 40255 0 1.82191E-5
6-131481216-A-G p.Ile35Val missense AKAP7 40 83034 4.8173E-4 41517 0 0.00403226
6-131481219-A-T p.Asn36Tyr missense AKAP7 2 83040 2.40848E-5 41520 0 2.59585E-5
6-131481231-A-G p.Ser40Gly missense AKAP7 2 83056 2.40801E-5 41528 0 4.28695E-6
6-131481240-A-G p.Asn43Asp missense AKAP7 2 83098 2.4068E-5 41549 0 NA
6-131481254-G-C p.Lys47Asn missense AKAP7 1 83162 1.20247E-5 41581 0 8.30841E-6
6-131481297-C-T p.Gln62* stop_gained AKAP7 2 83180 2.40442E-5 41590 0 NA
6-131481307-A-G p.Tyr65Cys missense AKAP7 83 83172 9.97932E-4 41586 0 6.19863E-4
6-131481334-AAG-A p.Thr72fs frameshift AKAP7 1 83092 1.20349E-5 41546 0 NA
6-131486217-T-G n.647-4T>G splice_region AKAP7 1 82526 1.21174E-5 41263 0 8.92459E-6
6-131486246-A-G p.Gln84Arg missense AKAP7 1 82922 1.20595E-5 41461 0 NA
6-131486250-TG-T p.Ala86fs frameshift AKAP7 1 82946 1.2056E-5 41473 0 4.00914E-6
6-131486259-A-G p.Ile88Met missense AKAP7 1 82996 1.20488E-5 41498 0 6.25E-4
6-131486268-T-A p.Asp91Glu missense AKAP7 1 83032 1.20435E-5 41516 0 NA
6-131486269-G-A p.Glu92Lys missense AKAP7 2 83036 2.40859E-5 41518 0 9.55718E-5
6-131486272-C-T p.Arg93* stop_gained AKAP7 6 83052 7.22439E-5 41526 0 6.25E-4
6-131486273-G-A p.Arg93Gln missense AKAP7 1 83036 1.2043E-5 41518 0 8.33403E-6
6-131486278-G-A p.Ala95Thr missense AKAP7 1 83068 1.20383E-5 41534 0 NA
6-131486285-C-G p.Ala97Gly missense AKAP7 3 83100 3.61011E-5 41550 0 3.18593E-5
6-131486287-A-G p.Met98Val missense AKAP7 2 83104 2.40662E-5 41552 0 1.66116E-5
6-131486330-A-G p.Gln112Arg missense AKAP7 107 82952 0.0012899 41476 0 0.00117864
6-131486334-A-G p.Leu113Leu synonymous AKAP7 2 82922 2.41191E-5 41461 0 8.13008E-6
6-131486337-A-C p.Leu114Phe missense AKAP7 50 82892 6.03195E-4 41446 0 0.00108294
6-131486358-G-A c.362+1G>A splice_donor AKAP7 3 82596 3.63214E-5 41298 0 8.44324E-6
6-131486362-G-A c.362+5G>A splice_region AKAP7 1 82496 1.21218E-5 41248 0 1.25934E-5
6-131490248-A-G c.363-5A>G splice_region AKAP7 5 83132 6.01453E-5 41566 0 6.6335E-5
6-131490249-C-T c.363-4C>T splice_region AKAP7 35 83138 4.20987E-4 41569 0 2.65186E-4
6-131490260-G-C p.Asp124His missense AKAP7 1 83172 1.20233E-5 41586 0 NA
6-131490263-G-T p.Ala125Ser missense AKAP7 600 83162 0.00721483 41581 7 0.0147799
6-131490266-C-T p.Leu126Phe missense AKAP7 1 83192 1.20204E-5 41596 0 3.30289E-5
6-131490283-A-T p.Pro131Pro synonymous AKAP7 1 83214 1.20172E-5 41607 0 3.98111E-6
6-131490289-A-G p.Ile133Met missense AKAP7 2 83234 2.40286E-5 41617 0 8.24715E-6
6-131490292-A-G p.Glu134Glu synonymous AKAP7 8 83244 9.6103E-5 41622 0 3.58226E-5
6-131490310-A-C p.Lys140Asn missense AKAP7 1 83260 1.20106E-5 41630 0 NA
6-131490310-A-G p.Lys140Lys synonymous AKAP7 1 83260 1.20106E-5 41630 0 1.59136E-5
6-131490312-A-G p.His141Arg missense AKAP7 10 83258 1.20109E-4 41629 0 4.73428E-4
6-131490324-C-T p.Pro145Leu missense AKAP7 181 83258 0.00217397 41629 0 0.0044913
6-131490325-C-A p.Pro145Pro synonymous AKAP7 6 83256 7.20669E-5 41628 0 1.03453E-4
6-131490325-C-T p.Pro145Pro synonymous AKAP7 2 83256 2.40223E-5 41628 0 NA
6-131490327-T-G p.Phe146Cys missense AKAP7 1 83260 1.20106E-5 41630 0 6.25E-4
6-131490328-T-C p.Phe146Phe synonymous AKAP7 1 83266 1.20097E-5 41633 0 8.24226E-6
6-131490329-C-G p.Gln147Glu missense AKAP7 1 83264 1.201E-5 41632 0 NA
6-131490333-G-T p.Gly148Val missense AKAP7 2 83264 2.402E-5 41632 0 2.06043E-4
6-131490345-T-A p.Phe152Tyr missense AKAP7 1 83266 1.20097E-5 41633 0 NA
6-131490346-T-C p.Phe152Phe synonymous AKAP7 1 83264 1.201E-5 41632 0 3.18329E-5
6-131490387-A-G p.His166Arg missense AKAP7 1 83236 1.2014E-5 41618 0 NA
6-131490388-T-C p.His166His synonymous AKAP7 1 83230 1.20149E-5 41615 0 1.64848E-5
6-131490396-C-T p.Ser169Leu missense AKAP7 26 83202 3.12492E-4 41601 0 0.00100806
6-131490401-T-C p.Leu171Leu synonymous AKAP7 1 83184 1.20215E-5 41592 0 3.18431E-5
6-131490413-G-GAGACT c.523_523+1insAGACT splice_donor AKAP7 2 83126 2.40599E-5 41563 1 NA
6-131490414-G-A c.523+1G>A splice_donor AKAP7 1 83116 1.20314E-5 41558 0 NA
6-131490416-A-G c.523+3A>G splice_region AKAP7 3 83114 3.6095E-5 41557 0 3.1837E-5
6-131505695-C-CG n.898_899insG splice_region AKAP7 1 54164 1.84624E-5 27082 0 NA
6-131520601-A-G p.Glu175Gly missense+splice_region AKAP7 2 82282 2.43067E-5 41141 0 NA
6-131520615-A-G p.Thr180Ala missense AKAP7 1 82440 1.213E-5 41220 0 5.03525E-4
6-131520631-G-T p.Gly185Val missense AKAP7 6 82596 7.26427E-5 41298 0 7.44294E-5
6-131520631-G-C p.Gly185Ala missense AKAP7 4 82598 4.84273E-5 41299 0 6.25E-4
6-131520642-G-C p.Gly189Arg missense AKAP7 124 82662 0.00150008 41331 2 0.00334459
6-131520647-G-C p.Glu190Asp missense AKAP7 1 82708 1.20907E-5 41354 0 2.39839E-5
6-131520649-G-A p.Ser191Asn missense AKAP7 2 82710 2.41809E-5 41355 0 6.7937E-5
6-131520655-G-A p.Ser193Asn missense AKAP7 25836 82334 0.313795 41167 4337 0.316213
6-131520662-A-C p.Lys195Asn missense AKAP7 3 82764 3.62476E-5 41382 0 3.18451E-5
6-131520666-CAT-C p.His197fs frameshift AKAP7 1 82760 1.20831E-5 41380 0 NA
6-131520676-T-C p.Phe200Ser missense AKAP7 3 82760 3.62494E-5 41380 0 3.98867E-6
6-131520680-G-A p.Met201Ile missense AKAP7 1 82740 1.20861E-5 41370 0 5.03525E-4
6-131520683-G-A p.Lys202Lys synonymous AKAP7 1 82720 1.2089E-5 41360 0 NA
6-131520688-C-G p.Ser204* stop_gained AKAP7 2 82718 2.41785E-5 41359 0 3.98979E-6
6-131520690-A-G p.Lys205Glu missense AKAP7 1 82710 1.20904E-5 41355 0 3.30573E-5
6-131520691-A-G p.Lys205Arg missense AKAP7 1388 82672 0.0167892 41336 18 0.0216576
6-131520697-C-T p.Pro207Leu missense AKAP7 1 82658 1.2098E-5 41329 0 7.98339E-6
6-131520698-G-A p.Pro207Pro synonymous AKAP7 5 82652 6.04946E-5 41326 0 5.03525E-4
6-131520704-C-T p.Leu209Leu synonymous AKAP7 2 82604 2.42119E-5 41302 0 7.98263E-6
6-131520705-C-T p.Arg210Cys missense AKAP7 2 82598 2.42137E-5 41299 0 4.97224E-5
6-131520706-G-A p.Arg210His missense AKAP7 1 82578 1.21098E-5 41289 0 6.36862E-5
6-131520706-G-T p.Arg210Leu missense AKAP7 1 82578 1.21098E-5 41289 0 NA
6-131520707-T-G p.Arg210Arg synonymous AKAP7 1 82572 1.21106E-5 41286 0 NA
6-131520711-A-G p.Asn212Asp missense+splice_region AKAP7 1 82530 1.21168E-5 41265 0 NA
6-131540795-T-G c.-90-6T>G splice_region AKAP7 11 82690 1.33027E-4 41345 0 8.56414E-6
6-131540796-T-G c.-90-5T>G splice_region AKAP7 8 82704 9.67305E-5 41352 0 1.41196E-4
6-131540799-A-T c.-90-2A>T splice_acceptor AKAP7 1 82744 1.20855E-5 41372 0 NA
6-131540802-G-A p.Gly213Glu missense+splice_region AKAP7 1 82764 1.20825E-5 41382 0 NA
6-131540806-GA-G p.Ile217fs frameshift AKAP7 2 82814 2.41505E-5 41407 0 NA
6-131540816-G-C p.Asp218His missense AKAP7 1 82928 1.20587E-5 41464 0 4.2313E-6
6-131540816-GA-G p.Asp218fs frameshift AKAP7 1 82928 1.20587E-5 41464 0 NA
6-131540818-T-TC p.Asp220fs frameshift AKAP7 1 82926 1.20589E-5 41463 0 4.24041E-6
6-131540827-A-G c.-64A>G 5_prime_UTR_premature_start_codon_gain AKAP7 2 82976 2.41034E-5 41488 0 3.18492E-5
6-131540832-A-C p.Glu223Ala missense AKAP7 2 82992 2.40987E-5 41496 0 0.00125
6-131540840-A-G p.Ile226Val missense AKAP7 1 83014 1.20462E-5 41507 0 4.23474E-6
6-131540844-G-C p.Ser227Thr missense AKAP7 1 83034 1.20433E-5 41517 0 NA
6-131540852-T-G p.Phe230Val missense AKAP7 2 83028 2.40883E-5 41514 0 1.66923E-5
6-131540857-A-G p.Gly231Gly synonymous AKAP7 3 83044 3.61254E-5 41522 0 8.26091E-6
6-131540864-ATAT-A p.Leu235del disruptive_inframe_deletion AKAP7 3 83088 3.61063E-5 41544 0 8.26105E-6
6-131540870-T-A p.Tyr236Asn missense AKAP7 28 83090 3.36984E-4 41545 0 5.06586E-4
6-131540873-C-T p.Arg237Cys missense AKAP7 233 83082 0.00280446 41541 4 0.00570391
6-131540873-C-A p.Arg237Ser missense AKAP7 3 83084 3.6108E-5 41542 0 NA
6-131540874-G-A p.Arg237His missense AKAP7 2 83080 2.40732E-5 41540 0 7.43396E-5
6-131540874-G-T p.Arg237Leu missense AKAP7 2 83080 2.40732E-5 41540 0 5.06073E-4
6-131540875-CA-C p.Ile238fs frameshift AKAP7 1 83100 1.20337E-5 41550 0 NA
6-131540887-C-T p.Cys241Cys synonymous AKAP7 5 83066 6.01931E-5 41533 0 5.06586E-4
6-131540889-C-T p.Ser242Phe missense AKAP7 6 83060 7.22369E-5 41530 0 NA
6-131540916-GTTA-G p.Tyr11del conservative_inframe_deletion AKAP7 1 82910 1.20613E-5 41455 0 NA
6-131540933-T-A p.Ser15Thr missense AKAP7 2 82276 2.43084E-5 41138 0 NA
6-131540944-G-A p.Val18Val synonymous AKAP7 1 81484 1.22723E-5 40742 0 NA
6-131540947-T-C p.Ile19Ile splice_region+synonymous AKAP7 7 81346 8.60522E-5 40673 0 1.64919E-5
6-131540948-GGTGA-G c.58+1_58+4delGTGA splice_donor AKAP7 3 81212 3.69404E-5 40606 0 1.68512E-5
6-131540949-G-GCAAGAAACCTATTGGAATTCGAGACTTAATTAATGAAGCTT c.58+1_58+2insCAAGAAACCTATTGGAATTCGAGACTTAATTAATGAAGCTT splice_donor AKAP7 1 81168 1.23201E-5 40584 0 NA
6-131540949-G-GCAAGAAACC c.58+1_58+2insCAAGAAACC splice_donor AKAP7 2 81168 2.46403E-5 40584 1 NA
6-131540951-G-C c.58+3G>C splice_region AKAP7 3 81118 3.69832E-5 40559 0 5.62284E-6
6-131571346-C-T c.-362C>T 5_prime_UTR_premature_start_codon_gain AKAP7 2 29448 6.79163E-5 14724 0 9.55718E-5
6-131571351-A-G c.-357A>G 5_prime_UTR_premature_start_codon_gain AKAP7 1 30490 3.27976E-5 15245 0 NA
6-131571426-G-A c.-282G>A 5_prime_UTR_premature_start_codon_gain AKAP7 1 49148 2.03467E-5 24574 0 NA
6-131571426-G-T c.-282G>T 5_prime_UTR_premature_start_codon_gain AKAP7 1 49148 2.03467E-5 24574 0 NA
6-131571435-C-T c.-273C>T 5_prime_UTR_premature_start_codon_gain AKAP7 4 51994 7.6932E-5 25997 0 9.55597E-5
6-131571525-C-T c.-183C>T 5_prime_UTR_premature_start_codon_gain AKAP7 2 75612 2.64508E-5 37806 0 NA
6-131571557-C-T c.-151C>T 5_prime_UTR_premature_start_codon_gain AKAP7 1 77992 1.28218E-5 38996 0 0.00194301
6-131571564-G-A c.-144G>A 5_prime_UTR_premature_start_codon_gain AKAP7 11 78256 1.40564E-4 39128 0 2.22987E-4
6-131571593-C-T c.-115C>T 5_prime_UTR_premature_start_codon_gain AKAP7 1 81120 1.23274E-5 40560 0 NA
6-131571599-C-T c.-109C>T 5_prime_UTR_premature_start_codon_gain AKAP7 3 81454 3.68306E-5 40727 0 NA
6-131571600-G-A c.-108G>A 5_prime_UTR_premature_start_codon_gain AKAP7 2 81434 2.45598E-5 40717 0 NA
6-131571626-C-T c.-82C>T 5_prime_UTR_premature_start_codon_gain AKAP7 26 82382 3.15603E-4 41191 0 3.50341E-4
6-131571655-A-G c.-53A>G 5_prime_UTR_premature_start_codon_gain AKAP7 1 82954 1.20549E-5 41477 0 NA
6-131571703-G-A c.-5G>A 5_prime_UTR_premature_start_codon_gain AKAP7 1 83122 1.20305E-5 41561 0 NA
6-131571727-T-G p.Phe7Cys missense AKAP7 1 83124 1.20302E-5 41562 0 3.18431E-5
6-131571731-T-C p.Pro8Pro synonymous AKAP7 31 83098 3.73054E-4 41549 0 7.64234E-4
6-131571736-C-T p.Ser10Leu missense AKAP7 1 83070 1.2038E-5 41535 0 NA
6-131574172-C-A c.50-5C>A splice_region AKAP7 1 83294 1.20057E-5 41647 0 NA
6-131574173-A-C c.50-4A>C splice_region AKAP7 1 83302 1.20045E-5 41651 0 3.98845E-6
6-131574174-CAG-C c.50-2_50-1delAG splice_acceptor AKAP7 1 83296 1.20054E-5 41648 0 NA
6-131574175-A-G c.50-2A>G splice_acceptor AKAP7 2 83300 2.40096E-5 41650 0 NA
6-131574179-G-A p.Glu18Lys missense+splice_region AKAP7 7 83322 8.40114E-5 41661 1 3.8272E-4
6-131574182-T-C p.Leu19Leu synonymous AKAP7 1 83318 1.20022E-5 41659 0 3.98546E-6
6-131574192-C-T p.Ser22Leu missense AKAP7 4 83330 4.80019E-5 41665 0 6.37186E-5
6-131574192-C-G p.Ser22Trp missense AKAP7 1 83330 1.20005E-5 41665 0 NA
6-131574193-G-A p.Ser22Ser synonymous AKAP7 6 83328 7.20046E-5 41664 0 1.65008E-5
6-131574195-C-T p.Ser23Phe missense AKAP7 4 83332 4.80008E-5 41666 0 1.59236E-4
6-131574198-C-A p.Ser24Tyr missense AKAP7 5 83330 6.00024E-5 41665 0 3.18451E-5
6-131574203-G-C p.Val26Leu missense AKAP7 1 83340 1.1999E-5 41670 0 8.24906E-6
6-131574205-C-T p.Val26Val synonymous AKAP7 1 83332 1.20002E-5 41666 0 8.24878E-6
6-131574209-C-T p.Gln28* stop_gained AKAP7 15 83328 1.80012E-4 41664 0 5.77424E-5
6-131574216-A-G p.Tyr30Cys missense AKAP7 1 83324 1.20013E-5 41662 0 3.18492E-5
6-131574217-C-T p.Tyr30Tyr synonymous AKAP7 2 83336 2.39992E-5 41668 0 3.18492E-5
6-131574235-T-C p.Ser36Ser synonymous AKAP7 1 83330 1.20005E-5 41665 0 6.36821E-5
6-131574249-A-AGAG c.118+4_118+5insGAG splice_region AKAP7 1 83292 1.2006E-5 41646 0 NA
6-131602665-T-C c.59-5T>C splice_region AKAP7 1 82394 1.21368E-5 41197 0 NA
6-131602680-C-T p.Asn23Asn synonymous AKAP7 11 82578 1.33207E-4 41289 0 6.3541E-4
6-131602681-G-A p.Gly24Arg missense AKAP7 1 82604 1.2106E-5 41302 0 4.08327E-6
6-131602692-C-T p.Pro27Pro synonymous AKAP7 2 82644 2.42002E-5 41322 0 2.02423E-5
6-131602693-G-A p.Asp28Asn missense AKAP7 1 82652 1.20989E-5 41326 0 NA
6-131602698-C-T p.Asp29Asp synonymous AKAP7 2 82672 2.4192E-5 41336 0 6.36983E-5
6-131602699-G-A p.Ala30Thr missense AKAP7 3 82666 3.62906E-5 41333 0 5.23358E-5
6-131602701-T-C p.Ala30Ala synonymous AKAP7 1 82698 1.20922E-5 41349 0 NA
6-131602725-G-A p.Arg38Arg synonymous AKAP7 2 82746 2.41704E-5 41373 0 8.27486E-6
6-131602725-G-T p.Arg38Ser missense AKAP7 2 82746 2.41704E-5 41373 0 NA
6-131602739-C-T p.Ala43Val missense AKAP7 1 82676 1.20954E-5 41338 0 3.99661E-6
6-131602740-G-A p.Ala43Ala synonymous AKAP7 1 82658 1.2098E-5 41329 0 8.28226E-6
6-131602742-T-C p.Val44Ala missense AKAP7 9 82654 1.08888E-4 41327 0 1.59776E-4
6-131602769-A-C p.Glu53Ala missense AKAP7 2 82574 2.42207E-5 41287 0 NA
6-131602773-AAC-A p.Gln56fs frameshift AKAP7 1 82572 1.21106E-5 41286 0 3.18735E-5
6-131602777-C-T p.Gln56* stop_gained AKAP7 1 82524 1.21177E-5 41262 0 NA
6-131602793-C-T p.Pro61Leu missense AKAP7 1 82418 1.21333E-5 41209 0 2.40302E-5
6-131602793-C-A p.Pro61Gln missense AKAP7 1 82418 1.21333E-5 41209 0 NA
6-131602794-G-A p.Pro61Pro synonymous AKAP7 2 82424 2.42648E-5 41212 0 6.37308E-5
6-131602798-GAG-AAA p.Glu63Lys missense AKAP7 1 82404 1.21353E-5 41202 0 NA
6-131602805-G-A p.Ser65Asn missense AKAP7 1 82350 1.21433E-5 41175 0 3.18695E-5
6-131602818-C-T p.Thr69Thr synonymous AKAP7 3 82366 3.64228E-5 41183 0 4.82664E-5
6-131602819-G-A p.Glu70Lys missense AKAP7 232 82372 0.00281649 41186 2 0.005625
6-131602822-G-A p.Ala71Thr missense AKAP7 1 82366 1.21409E-5 41183 0 3.18512E-5
6-131602838-G-A p.Gly76Asp missense AKAP7 1 82360 1.21418E-5 41180 0 NA
6-131602854-C-T p.Asn81Asn synonymous AKAP7 26 82324 3.15825E-4 41162 0 0.01375
6-131602865-G-A p.Ter85Ter stop_retained AKAP7 1 82250 1.21581E-5 41125 0 8.53592E-6
6-131603524-AT-A n.596-6delT splice_region AKAP7 6 76474 7.8458E-5 38237 0 3.53289E-4
6-131603533-T-C n.596-6T>C splice_region AKAP7 2 76558 2.6124E-5 38279 0 9.65549E-6
6-131603535-T-A n.596-4T>A splice_region AKAP7 1 76498 1.30722E-5 38249 0 NA
6-131603537-A-G n.596-2A>G splice_acceptor AKAP7 1 76188 1.31254E-5 38094 0 NA
6-131603538-G-C n.596-1G>C splice_acceptor AKAP7 1 76860 1.30107E-5 38430 0 3.25013E-5
6-131603540-C-G p.Gly20Gly splice_region+synonymous AKAP7 1 76800 1.30208E-5 38400 0 5.20165E-5
6-131603548-CTAT-C p.Ile24del conservative_inframe_deletion AKAP7 1593 77352 0.0205942 38676 53 0.0298212
6-131603560-G-A p.Arg27Gln missense AKAP7 1 77658 1.2877E-5 38829 0 2.32573E-5
6-131603561-A-C p.Arg27Arg synonymous AKAP7 1 77804 1.28528E-5 38902 0 NA
6-131603561-A-G p.Arg27Arg synonymous AKAP7 1 77804 1.28528E-5 38902 0 8.20883E-5
6-131603564-CTTAA-C p.Ile30fs frameshift AKAP7 1 77768 1.28588E-5 38884 0 6.38203E-5
6-131603572-A-ACCCCCC p.Asn31_Glu32insProPro disruptive_inframe_insertion AKAP7 1 77976 1.28245E-5 38988 0 1.63479E-4
6-131603586-C-T p.Arg36* stop_gained AKAP7 4 78250 5.11182E-5 39125 0 3.19142E-5
6-131603590-A-G p.Glu37Gly missense AKAP7 2 78310 2.55395E-5 39155 0 5.90816E-5
6-131603593-C-T p.Thr38Met missense AKAP7 1 78322 1.27678E-5 39161 0 7.38062E-6
6-131603594-G-A p.Thr38Thr synonymous AKAP7 7 78336 8.93587E-5 39168 0 1.91266E-4
6-131603597-G-T p.Met39Ile missense AKAP7 1 78396 1.27558E-5 39198 0 3.18654E-5
6-131603598-G-T p.Gly40Cys missense AKAP7 1 78466 1.27444E-5 39233 0 NA
6-131603598-G-C p.Gly40Arg missense AKAP7 1 78466 1.27444E-5 39233 0 NA
6-131603611-A-G p.Lys44Arg missense AKAP7 2 78588 2.54492E-5 39294 0 NA
6-131603631-CT-C p.Leu52fs frameshift AKAP7 5 78646 6.3576E-5 39323 0 6.38366E-5
6-131603631-C-CT p.Leu52fs frameshift AKAP7 6 78646 7.62912E-5 39323 0 9.57549E-5
6-131603636-AT-A p.Leu53fs frameshift AKAP7 5 78654 6.35696E-5 39327 0 6.36902E-5
6-131603636-A-C p.Leu52Phe missense AKAP7 2 78654 2.54278E-5 39327 0 NA
6-131603653-A-G p.Gln58Arg missense AKAP7 1 78654 1.27139E-5 39327 0 NA
6-131603672-G-A p.Glu64Glu synonymous AKAP7 1 78634 1.27171E-5 39317 0 NA
6-131603682-G-A p.Gly68Arg missense AKAP7 1 78602 1.27223E-5 39301 0 NA
6-131603689-T-C p.Leu70Pro missense AKAP7 1 78560 1.27291E-5 39280 0 NA
6-131603693-TAAC-T p.Asn73del disruptive_inframe_deletion AKAP7 1 78566 1.27282E-5 39283 0 NA
6-131603697-A-G p.Asn73Asp missense AKAP7 1 78562 1.27288E-5 39281 0 NA
6-131603713-A-G p.Asn78Ser missense AKAP7 1 78498 1.27392E-5 39249 0 NA
6-131603717-C-T p.Asp79Asp synonymous AKAP7 6 78494 7.6439E-5 39247 0 0.00125
6-131603718-G-A p.Val80Ile missense AKAP7 1 78480 1.27421E-5 39240 0 6.25E-4
6-131603724-T-A p.Phe82Ile missense AKAP7 2 78474 2.54861E-5 39237 0 6.36943E-5
6-131603731-C-A p.Thr84Lys missense AKAP7 1 78436 1.27492E-5 39218 0 7.34614E-6
6-131603735-T-A p.Thr85Thr synonymous AKAP7 1 78434 1.27496E-5 39217 0 NA
6-131603742-T-G p.Ter88Gluext*? stop_lost AKAP7 11 78392 1.4032E-4 39196 0 3.18471E-5