Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-243663032-AACTT-A c.*6+3_*6+6delAAGT splice_region AKT3 1 83120 1.20308E-5 41560 0 NA
1-243663036-TAC-T c.*6+1_*6+2delGT splice_donor AKT3 1 83196 1.20198E-5 41598 0 NA
1-243663037-ACTT-A c.*5_*6+1delAAG splice_donor AKT3 1 83200 1.20192E-5 41600 0 3.98781E-6
1-243663038-C-T c.*6+1G>A splice_donor AKT3 1 83218 1.20166E-5 41609 0 8.51934E-6
1-243663047-AT-A p.Lys465fs frameshift AKT3 1 83270 1.20091E-5 41635 0 6.37227E-5
1-243663047-A-AT p.Ter466fs frameshift AKT3 1 83270 1.20091E-5 41635 0 2.53224E-5
1-243663048-T-C p.Lys465Lys synonymous AKT3 1 83272 1.20088E-5 41636 0 NA
1-243663057-G-A p.Asn462Asn synonymous AKT3 1 83298 1.20051E-5 41649 0 NA
1-243663062-CCAGCATGCCA-C p.Cys457fs frameshift AKT3 1 83326 1.20011E-5 41663 0 NA
1-243663070-C-CCA p.Gly458fs frameshift AKT3 1 83342 1.19988E-5 41671 0 8.33486E-6
1-243663074-A-C p.Cys457Gly missense AKT3 1 83356 1.19967E-5 41678 0 NA
1-243663081-T-TTGC p.Gln454dup disruptive_inframe_insertion AKT3 1 83352 1.19973E-5 41676 0 7.96781E-6
1-243663089-C-T c.1355-1G>A splice_acceptor AKT3 5 83350 5.9988E-5 41675 0 2.22873E-4
1-243668552-T-C p.Ter480Ter stop_retained AKT3 1 83336 1.19996E-5 41668 0 3.18613E-5
1-243668575-G-C p.Ser472Ser synonymous AKT3 112 83368 0.00134344 41684 0 0.00315427
1-243668581-T-C p.Gln470Gln synonymous AKT3 1 83374 1.19941E-5 41687 0 7.95361E-6
1-243668593-C-T p.Pro466Pro synonymous AKT3 1 83364 1.19956E-5 41682 0 2.86624E-4
1-243668594-G-A p.Pro466Leu missense AKT3 1 83368 1.1995E-5 41684 0 NA
1-243668605-A-G p.Asn462Asn synonymous AKT3 1 83376 1.19939E-5 41688 0 1.59068E-5
1-243668632-A-G p.Asp453Asp synonymous AKT3 52 83346 6.23905E-4 41673 0 0.00111451
1-243668633-T-C p.Asp453Gly missense AKT3 1 83346 1.19982E-5 41673 0 8.27417E-6
1-243675626-A-AT p.Tyr452fs frameshift AKT3 1 81560 1.22609E-5 40780 0 NA
1-243675626-A-G p.Tyr452His missense+splice_region AKT3 1 81560 1.22609E-5 40780 0 3.18512E-5
1-243675644-T-C p.Ile446Val missense AKT3 1 82322 1.21474E-5 41161 0 2.23946E-5
1-243675705-T-C p.Gln425Gln synonymous AKT3 2 82722 2.41774E-5 41361 0 1.73958E-5
1-243675722-G-A p.Pro420Ser missense AKT3 3 82588 3.63249E-5 41294 0 1.8257E-5
1-243675730-T-TTTTTATCATATACATCTTGCCAGTTTACTCCA c.1252-3_1252-2insTGGAGTAAACTGGCAAGATGTATATGATAAAA splice_region AKT3 1 82458 1.21274E-5 41229 0 NA
1-243675732-T-TA c.1252-5_1252-4insT splice_region AKT3 1 82388 1.21377E-5 41194 0 NA
1-243675734-A-T c.1252-6T>A splice_region AKT3 1 82300 1.21507E-5 41150 0 3.18451E-5
1-243708807-C-G c.1251+5G>C splice_region AKT3 1 82528 1.21171E-5 41264 0 NA
1-243708821-A-G p.Tyr414Tyr synonymous AKT3 1 82730 1.20875E-5 41365 0 1.1965E-5
1-243708822-T-C p.Tyr414Cys missense AKT3 2 82750 2.41692E-5 41375 0 3.98759E-6
1-243708861-C-T p.Arg401Lys missense AKT3 2 82892 2.41278E-5 41446 0 3.18512E-5
1-243708904-G-T c.1164-5C>A splice_region AKT3 1 82616 1.21042E-5 41308 0 8.30703E-6
1-243708906-G-A c.1164-7C>T splice_region AKT3 2 82582 2.42184E-5 41291 0 2.01253E-5
1-243716090-T-C p.Thr368Thr synonymous AKT3 4 83164 4.80977E-5 41582 0 9.89364E-5
1-243716112-T-C p.Glu361Gly missense AKT3 7 83264 8.40699E-5 41632 0 9.55057E-5
1-243716144-G-A p.Asp350Asp synonymous AKT3 1 83302 1.20045E-5 41651 0 3.58072E-5
1-243716150-G-A p.Asn348Asn synonymous AKT3 2 83304 2.40085E-5 41652 0 9.06529E-5
1-243716159-A-G p.Pro345Pro synonymous AKT3 1 83308 1.20036E-5 41654 0 NA
1-243716189-G-A p.Val335Val synonymous AKT3 1 83270 1.20091E-5 41635 0 NA
1-243716198-T-C p.Leu332Leu synonymous AKT3 1 83250 1.2012E-5 41625 0 3.18449E-5
1-243716225-A-G p.Tyr323Tyr synonymous AKT3 1 83134 1.20288E-5 41567 0 8.28226E-6
1-243716247-T-TCTGGTGCCAGATATTCTGGAGTGCCACAGAATGTCTTCATGGTGGCTGC c.949-3_949-2insGCAGCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAG splice_region AKT3 2 82830 2.41458E-5 41415 1 NA
1-243727016-G-A c.948+6C>T splice_region AKT3 1 82362 1.21415E-5 41181 0 NA
1-243727069-C-CT p.Ala301fs frameshift AKT3 1 82734 1.20869E-5 41367 0 NA
1-243727072-C-A p.Ala300Ser missense AKT3 1 82732 1.20872E-5 41366 0 NA
1-243727106-T-G p.Thr288Thr synonymous AKT3 1 82762 1.20828E-5 41381 0 4.00966E-6
1-243727107-G-A p.Thr288Ile missense AKT3 1 82760 1.20831E-5 41380 0 NA
1-243727115-T-C p.Ile285Met missense AKT3 2 82764 2.41651E-5 41382 0 3.99623E-6
1-243727117-T-C p.Ile285Val missense AKT3 1 82744 1.20855E-5 41372 0 8.26952E-6
1-243727130-G-A p.Asp280Asp synonymous AKT3 5 82686 6.04697E-5 41343 0 0.00100705
1-243727152-T-TTGAGATCACGGTACACAATCTTTCCGGAATGTAGATAGTCCAA c.820-3_820-2insTTGGACTATCTACATTCCGGAAAGATTGTGTACCGTGATCTCA splice_region AKT3 4 82580 4.84379E-5 41290 2 NA
1-243736226-A-T c.819+2T>A splice_donor AKT3 1 82002 1.21948E-5 41001 0 0.00797783
1-243736231-G-T p.Leu272Leu synonymous AKT3 1 82484 1.21236E-5 41242 0 7.52559E-5
1-243736240-G-A p.Tyr269Tyr synonymous AKT3 4 82788 4.83162E-5 41394 0 4.31808E-4
1-243736252-T-C p.Gly265Gly synonymous AKT3 1 82914 1.20607E-5 41457 0 3.99348E-6
1-243736255-G-A p.Ser264Ser synonymous AKT3 20 82914 2.41214E-4 41457 0 5.04032E-4
1-243736301-C-T p.Arg249His missense AKT3 1 83146 1.2027E-5 41573 0 8.27828E-6
1-243736329-C-G p.Glu240Gln missense AKT3 1 83140 1.20279E-5 41570 0 NA
1-243736355-A-G c.697-5T>C splice_region AKT3 1 82978 1.20514E-5 41489 0 NA
1-243776976-G-A p.Gly231Gly synonymous AKT3 1 82172 1.21696E-5 41086 0 3.30338E-5
1-243777049-T-C c.628-8A>G splice_region AKT3 1 81324 1.22965E-5 40662 0 NA
1-243778416-A-T p.Thr203Thr synonymous AKT3 1 82910 1.20613E-5 41455 0 NA
1-243778442-T-C p.Thr195Ala missense AKT3 1 82916 1.20604E-5 41458 0 NA
1-243778461-A-G p.Asp188Asp splice_region+synonymous AKT3 3 82686 3.62818E-5 41343 0 3.18695E-5
1-243800916-T-C p.Ala186Ala synonymous AKT3 1 82636 1.21013E-5 41318 0 NA
1-243800952-A-G p.Tyr174Tyr synonymous AKT3 4 83048 4.81649E-5 41524 0 3.33478E-5
1-243800970-C-T p.Lys168Lys synonymous AKT3 1 83140 1.20279E-5 41570 0 1.67026E-5
1-243800975-CTCG-C p.Arg166del conservative_inframe_deletion AKT3 1 83140 1.20279E-5 41570 0 NA
1-243800993-TC-T p.Val162fs frameshift AKT3 2 83106 2.40657E-5 41553 1 NA
1-243801042-T-G p.Thr144Thr splice_region+synonymous AKT3 2 82628 2.42049E-5 41314 0 NA
1-243809188-T-C c.429+7A>G splice_region AKT3 2 82950 2.41109E-5 41475 0 3.18471E-5
1-243809215-T-C p.Thr137Ala missense AKT3 1 83178 1.20224E-5 41589 0 8.00051E-6
1-243809219-G-A p.Ala135Ala synonymous AKT3 1 83152 1.20262E-5 41576 0 8.27993E-6
1-243809240-T-C p.Ile128Met missense AKT3 1 83166 1.20241E-5 41583 0 3.98705E-6
1-243809242-T-C p.Ile128Val missense AKT3 1 83168 1.20239E-5 41584 0 7.97289E-6
1-243809279-C-T p.Glu115Glu synonymous AKT3 1 83078 1.20369E-5 41539 0 7.97385E-6
1-243809300-T-A p.Arg108Ser missense AKT3 1 82940 1.20569E-5 41470 0 8.05562E-6
1-243809302-T-C p.Arg108Gly missense AKT3 1 82940 1.20569E-5 41470 0 NA
1-243809305-C-T p.Asp107Asn missense AKT3 1 82938 1.20572E-5 41469 0 NA
1-243809311-C-T p.Val105Ile missense AKT3 1 82934 1.20578E-5 41467 0 4.02742E-6
1-243809318-G-T p.Ile102Ile synonymous AKT3 14 82840 1.69E-4 41420 0 1.6269E-5
1-243809339-C-CCTTTCCTCTGGAGTATCTACATGAAATGTTCTCT c.285-1_285insAGAGAACATTTCATGTAGATACTCCAGAGGAAAG splice_acceptor AKT3 4 82608 4.84215E-5 41304 2 NA
1-243828072-A-C c.284+2T>G splice_donor AKT3 6 80950 7.41198E-5 40475 3 NA
1-243828085-A-G p.Thr91Thr synonymous AKT3 1 81686 1.2242E-5 40843 0 NA
1-243828108-C-G p.Glu84Gln missense AKT3 1 82652 1.20989E-5 41326 0 NA
1-243828130-A-G p.Cys76Cys synonymous AKT3 1 82764 1.20825E-5 41382 0 1.64842E-5
1-243828163-T-C p.Glu65Glu synonymous AKT3 2 82284 2.43061E-5 41142 0 3.18654E-5
1-243858900-T-C p.Ser55Ser synonymous AKT3 11 82502 1.3333E-4 41251 0 5.03525E-4
1-243858918-A-G p.Tyr49Tyr synonymous AKT3 7 82686 8.46576E-5 41343 0 8.09094E-6
1-243859026-A-G c.47-8T>C splice_region AKT3 1 82192 1.21666E-5 41096 0 NA
1-244006437-A-C p.Val12Val synonymous AKT3 1 83014 1.20462E-5 41507 0 NA
1-244006457-T-C p.Ile6Val missense AKT3 2 82996 2.40975E-5 41498 0 3.97902E-5
1-244006459-G-A p.Thr5Ile missense AKT3 1 82990 1.20496E-5 41495 0 4.94951E-5
1-244006460-T-C p.Thr5Ala missense AKT3 1 82978 1.20514E-5 41489 0 NA
1-244006520-T-C c.-48A>G 5_prime_UTR_premature_start_codon_gain AKT3 1 82490 1.21227E-5 41245 0 3.33322E-5
1-244006570-T-C c.-98A>G 5_prime_UTR_premature_start_codon_gain AKT3 1 80392 1.2439E-5 40196 0 NA
1-244006588-G-A c.-112-4C>T splice_region AKT3 2 77850 2.56904E-5 38925 0 NA
1-244006838-A-T c.-113+8T>A splice_region AKT3 1 35392 2.8255E-5 17696 0 NA
1-244006839-C-T c.-113+7G>A splice_region AKT3 1 34898 2.86549E-5 17449 0 NA
1-244006844-AC-A c.-113+1delG splice_donor AKT3 4 34424 1.16198E-4 17212 0 2.23044E-4
1-244006844-A-G c.-113+2T>C splice_donor AKT3 2 34424 5.8099E-5 17212 0 NA
1-244013336-T-A c.-113+6A>T splice_region AKT3 1 24318 4.11218E-5 12159 0 3.30491E-5
1-244013349-G-A c.-120C>T 5_prime_UTR_premature_start_codon_gain AKT3 1 24064 4.15558E-5 12032 0 2.29373E-4
1-244013355-G-A c.-126C>T 5_prime_UTR_premature_start_codon_gain AKT3 1 24146 4.14147E-5 12073 0 NA
1-244013361-G-A c.-132C>T 5_prime_UTR_premature_start_codon_gain AKT3 1 23982 4.16979E-5 11991 0 NA