Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-75910987-G-A c.-50G>A 5_prime_UTR_premature_start_codon_gain ADK 1 78898 1.26746E-5 39449 0 6.41733E-6
10-75911020-G-T c.-17G>T 5_prime_UTR_premature_start_codon_gain ADK 2 79224 2.52449E-5 39612 0 NA
10-75911038-T-A p.Met1? start_lost ADK 2 79238 2.52404E-5 39619 0 9.61631E-5
10-75911043-G-A p.Ala3Thr missense ADK 1 79162 1.26323E-5 39581 0 9.61538E-5
10-75911046-G-A p.Ala4Thr missense ADK 2 79112 2.52806E-5 39556 0 NA
10-75911057-G-C p.Glu7Asp missense ADK 2 78918 2.53428E-5 39459 0 1.92207E-5
10-75911066-C-CA p.Leu13fs frameshift ADK 1 78676 1.27104E-5 39338 0 NA
10-75911079-G-A p.Val15Met missense ADK 1 78362 1.27613E-5 39181 0 NA
10-75911080-T-C p.Val15Ala missense ADK 1 78252 1.27792E-5 39126 0 NA
10-75911100-A-T p.Arg22* stop_gained ADK 1 77168 1.29587E-5 38584 0 NA
10-75936473-G-T c.-158G>T 5_prime_UTR_premature_start_codon_gain ADK 2 44952 4.44919E-5 22476 0 NA
10-75936503-G-C c.-128G>C 5_prime_UTR_premature_start_codon_gain ADK 2 51580 3.87747E-5 25790 0 1.59479E-4
10-75936505-G-C c.-126G>C 5_prime_UTR_premature_start_codon_gain ADK 1 52076 1.92027E-5 26038 0 NA
10-75936562-C-T c.-69C>T 5_prime_UTR_premature_start_codon_gain ADK 1 66774 1.49759E-5 33387 0 3.18735E-5
10-75936605-G-A c.-26G>A 5_prime_UTR_premature_start_codon_gain ADK 1 69758 1.43353E-5 34879 0 NA
10-75936611-C-T c.-20C>T 5_prime_UTR_premature_start_codon_gain ADK 52031 68592 0.758558 34296 20166 0.800625
10-75936631-A-G p.Met1? start_lost ADK 1 70596 1.41651E-5 35298 0 NA
10-75936635-C-T p.Thr2Met missense ADK 1 70390 1.42066E-5 35195 0 NA
10-75936637-T-A p.Ser3Thr missense ADK 4 70428 5.67956E-5 35214 0 6.38284E-5
10-75936644-G-GAGAAAATATTCTCTTTGGAATGGGAAATCCTCTGCTTGACATCTCT c.14_14+1insAGAAAATATTCTCTTTGGAATGGGAAATCCTCTGCTTGACATCTCT splice_donor ADK 2 70536 2.83543E-5 35268 1 NA
10-75936649-C-G c.14+5C>G splice_region ADK 2 70036 2.85567E-5 35018 0 NA
10-75960521-G-T c.66-1G>T splice_acceptor ADK 2 82968 2.41057E-5 41484 0 NA
10-75960534-C-G p.Leu26Leu synonymous ADK 2 83066 2.40772E-5 41533 0 3.18837E-5
10-75960535-T-C p.Phe27Leu missense ADK 2 83064 2.40778E-5 41532 0 3.18573E-5
10-75960540-A-T p.Gly28Gly synonymous ADK 1 83096 1.20343E-5 41548 0 NA
10-75960548-A-G p.Asn31Ser missense ADK 3 83108 3.60976E-5 41554 0 6.37227E-5
10-75960549-T-C p.Asn31Asn synonymous ADK 1 83112 1.2032E-5 41556 0 3.98448E-6
10-75960550-C-A p.Pro32Thr missense ADK 1 83116 1.20314E-5 41558 0 NA
10-75960555-G-C p.Leu33Leu synonymous ADK 1 83106 1.20328E-5 41553 0 NA
10-75960597-G-A c.140+1G>A splice_donor ADK 1 82910 1.20613E-5 41455 0 NA
10-75984290-A-G c.141-6A>G splice_region ADK 1 83100 1.20337E-5 41550 0 7.96432E-6
10-75984291-T-C c.141-5T>C splice_region ADK 9 83104 1.08298E-4 41552 0 3.8219E-4
10-75984296-G-A p.Lys47Lys splice_region+synonymous ADK 3 83138 3.60846E-5 41569 0 3.18552E-5
10-75984312-A-G p.Asn53Asp missense ADK 5 83170 6.01178E-5 41585 0 8.34975E-6
10-75984345-G-C p.Glu64Gln missense ADK 1 83178 1.20224E-5 41589 0 NA
10-75984355-T-C c.194+6T>C splice_region ADK 1 83106 1.20328E-5 41553 0 NA
10-76074425-G-A p.Leu65Leu splice_region+synonymous ADK 3 82804 3.62301E-5 41402 0 8.00403E-5
10-76074446-A-G p.Lys72Lys synonymous ADK 1 82968 1.20528E-5 41484 0 3.98692E-6
10-76074450-A-G p.Lys74Glu missense ADK 5 82996 6.02439E-5 41498 0 3.18796E-5
10-76074456-G-A p.Glu76Lys missense ADK 1 82986 1.20502E-5 41493 0 3.98562E-6
10-76074462-C-T p.His78Tyr missense ADK 1 82982 1.20508E-5 41491 0 NA
10-76074464-T-G p.His78Gln missense ADK 1 82986 1.20502E-5 41493 0 NA
10-76074509-T-C c.273+6T>C splice_region ADK 2 82740 2.41721E-5 41370 0 9.56999E-5
10-76153896-C-T c.274-3C>T splice_region ADK 2 82740 2.41721E-5 41370 0 NA
10-76153918-A-G p.His98Arg missense ADK 1 82876 1.20662E-5 41438 0 6.36862E-5
10-76153940-A-G p.Gly105Gly synonymous ADK 1 82908 1.20616E-5 41454 0 5.04541E-4
10-76153945-T-C p.Ile107Thr missense ADK 1 82916 1.20604E-5 41458 0 3.98178E-6
10-76153949-G-A p.Gly108Gly synonymous ADK 1 82896 1.20633E-5 41448 0 NA
10-76153950-A-G p.Ile109Val missense ADK 5 82888 6.03224E-5 41444 0 0.00100806
10-76153950-A-C p.Ile109Leu missense ADK 2 82888 2.41289E-5 41444 0 3.18431E-5
10-76153959-T-C p.Phe112Leu missense ADK 1 82890 1.20642E-5 41445 0 8.23995E-6
10-76153960-T-C p.Phe112Ser missense ADK 1 82888 1.20645E-5 41444 0 8.23995E-6
10-76154000-G-C p.Val125Val synonymous ADK 3 82638 3.63029E-5 41319 0 2.39101E-5
10-76154015-C-T p.Tyr130Tyr synonymous ADK 7 82562 8.47848E-5 41281 0 0.00100908
10-76154031-C-G p.Pro136Ala missense ADK 1 82464 1.21265E-5 41232 0 3.9875E-6
10-76154051-A-G p.Ala142Ala synonymous ADK 3 82356 3.64272E-5 41178 0 6.36821E-5
10-76154054-C-T p.Cys143Cys synonymous ADK 43 82318 5.22365E-4 41159 0 4.10955E-4
10-76154059-C-G p.Thr145Ser missense ADK 2 82280 2.43072E-5 41140 0 3.9903E-6
10-76154066-C-T p.Asp147Asp synonymous ADK 1 82234 1.21604E-5 41117 0 3.9923E-6
10-76154074-C-CCCTCAT c.446+3_446+4insCCTCAT splice_region ADK 4 82144 4.8695E-5 41072 1 NA
10-76158222-G-T c.447-7G>T splice_region ADK 1 82346 1.21439E-5 41173 0 3.19491E-5
10-76158223-T-G c.447-6T>G splice_region ADK 1 82344 1.21442E-5 41172 0 3.99237E-6
10-76158233-C-T p.Leu151Phe missense ADK 1 82526 1.21174E-5 41263 0 NA
10-76158236-A-G p.Ile152Val missense ADK 4 82556 4.8452E-5 41278 0 1.6891E-5
10-76158257-A-G p.Asn159Asp missense ADK 5 82634 6.05078E-5 41317 0 8.37619E-6
10-76158271-G-A p.Lys163Lys synonymous ADK 1 82578 1.21098E-5 41289 0 6.40451E-5
10-76158272-G-A p.Glu164Lys missense ADK 1 82582 1.21092E-5 41291 0 8.36778E-6
10-76158287-C-T p.Leu169Leu synonymous ADK 2 82542 2.42301E-5 41271 0 1.682E-5
10-76158307-G-A p.Leu175Leu synonymous ADK 1 82470 1.21256E-5 41235 0 NA
10-76158311-G-C p.Glu177Gln missense ADK 1 82458 1.21274E-5 41229 0 NA
10-76158331-T-C p.Tyr183Tyr synonymous ADK 1 82222 1.21622E-5 41111 0 NA
10-76158332-A-G p.Ile184Val missense ADK 2 82214 2.43268E-5 41107 0 9.12126E-6
10-76158338-G-GGC c.555+1_555+2insGC splice_donor ADK 2 82088 2.43641E-5 41044 1 NA
10-76158338-G-GGCTTTTTTCT c.555+1_555+2insGCTTTTTTCT splice_donor ADK 1 82088 1.2182E-5 41044 0 NA
10-76285030-T-C p.Val191Ala missense ADK 1 83056 1.20401E-5 41528 0 3.18776E-5
10-76285044-G-A p.Val196Ile missense ADK 11 83120 1.32339E-4 41560 0 3.97886E-6
10-76285109-G-A p.Pro217Pro synonymous ADK 3 83160 3.6075E-5 41580 0 2.78538E-5
10-76285124-C-T p.Phe222Phe synonymous ADK 1 83114 1.20317E-5 41557 0 6.59359E-5
10-76285136-A-G p.Ser226Ser synonymous ADK 1 83050 1.20409E-5 41525 0 8.24661E-6
10-76285141-T-C p.Met228Thr missense ADK 1 83020 1.20453E-5 41510 0 1.19456E-5
10-76285146-G-A p.Val230Ile missense ADK 1 82990 1.20496E-5 41495 0 8.25328E-6
10-76285163-T-C p.Asp235Asp synonymous ADK 1317 82744 0.0159166 41372 46 0.0337362
10-76287511-C-G n.64-7C>G splice_region ADK 1 73106 1.36788E-5 36553 0 NA
10-76287516-A-C n.64-2A>C splice_acceptor ADK 2 73124 2.73508E-5 36562 0 NA
10-76287518-A-AC n.65dupC splice_region ADK 1 73142 1.3672E-5 36571 0 3.18451E-5
10-76349035-T-G c.727-5T>G splice_region ADK 2 83158 2.40506E-5 41579 0 NA
10-76349035-T-C c.727-5T>C splice_region ADK 1 83158 1.20253E-5 41579 0 NA
10-76349047-C-T p.Ala245Val missense ADK 2 83154 2.40518E-5 41577 0 NA
10-76349050-C-T p.Thr246Ile missense ADK 1 83140 1.20279E-5 41570 0 NA
10-76349058-A-G p.Arg249Gly missense ADK 1 83136 1.20285E-5 41568 0 NA
10-76349062-A-T p.Glu250Val missense ADK 1 83148 1.20267E-5 41574 0 5.57676E-5
10-76349067-G-A p.Gly252Ser missense ADK 2 83150 2.40529E-5 41575 0 NA
10-76349082-TAACCCA-T c.762+8_762+13delAACCCA splice_region ADK 1 83122 1.20305E-5 41561 0 NA
10-76360130-T-G c.763-7T>G splice_region ADK 1 81572 1.22591E-5 40786 0 NA
10-76360141-A-G p.Lys256Arg missense ADK 1 81984 1.21975E-5 40992 0 NA
10-76360146-A-G p.Ile258Val missense ADK 3 82122 3.6531E-5 41061 0 2.42994E-5
10-76360147-T-C p.Ile258Thr missense ADK 1 82160 1.21714E-5 41080 0 NA
10-76360175-C-T p.Ala267Ala synonymous ADK 1 82544 1.21148E-5 41272 0 6.41684E-5
10-76360181-A-G p.Pro269Pro synonymous ADK 1 82588 1.21083E-5 41294 0 NA
10-76360200-C-G p.Gln276Glu missense ADK 1 82730 1.20875E-5 41365 0 NA
10-76360208-C-T p.Ile278Ile synonymous ADK 1 82770 1.20817E-5 41385 0 3.21089E-5
10-76360209-G-A p.Val279Met missense ADK 1 82784 1.20796E-5 41392 0 4.00991E-6
10-76360239-A-G p.Ile289Val missense ADK 1 82818 1.20747E-5 41409 0 6.41478E-5
10-76360251-G-GAAA c.877_877+1insAAA splice_donor ADK 1 82754 1.2084E-5 41377 0 NA
10-76360251-G-GAAAGTGAAGTCACTGCTTTTGCTGTCTTGGATCAAGACCA c.877_877+1insAAAGTGAAGTCACTGCTTTTGCTGTCTTGGATCAAGACCA splice_donor ADK 2 82756 2.41674E-5 41378 1 NA
10-76360256-A-G c.877+5A>G splice_region ADK 1 82710 1.20904E-5 41355 0 4.09614E-6
10-76360258-G-A c.877+7G>A splice_region ADK 1 82694 1.20928E-5 41347 0 NA
10-76429943-A-G p.Ser294Gly missense+splice_region ADK 1 82776 1.20808E-5 41388 0 8.30592E-6
10-76429978-C-G p.Asp305Glu missense ADK 3 82992 3.61481E-5 41496 0 6.25E-4
10-76429980-A-G p.Gln306Arg missense ADK 3 83006 3.6142E-5 41503 0 6.25391E-4
10-76429980-A-T p.Gln306Leu missense ADK 1 83006 1.20473E-5 41503 0 6.25391E-4
10-76429981-G-T p.Gln306His missense ADK 1 83006 1.20473E-5 41503 0 8.26979E-6
10-76429982-A-G p.Lys307Glu missense ADK 3 82996 3.61463E-5 41498 0 3.1835E-5
10-76429985-G-T p.Glu308* stop_gained ADK 2 83016 2.40917E-5 41508 0 NA
10-76429990-T-C p.Ile309Ile synonymous ADK 3 83022 3.6135E-5 41511 0 1.65456E-5
10-76429990-T-G p.Ile309Met missense ADK 2 83022 2.409E-5 41511 0 NA
10-76429991-A-G p.Ile310Val missense ADK 1 83024 1.20447E-5 41512 0 NA
10-76429993-T-C p.Ile310Ile synonymous ADK 1 83018 1.20456E-5 41509 0 3.97975E-6
10-76429999-C-T p.Thr312Thr synonymous ADK 2 83014 2.40923E-5 41507 0 1.65662E-5
10-76430001-A-G p.Asn313Ser missense ADK 26 83004 3.13238E-4 41502 0 2.54647E-4
10-76430007-C-G p.Ala315Gly missense ADK 1 82994 1.20491E-5 41497 0 8.29504E-6
10-76430031-C-G c.964+4C>G splice_region ADK 2 82862 2.41365E-5 41431 0 NA
10-76468066-GCCTGTG-TTTTTTT c.965-13_965-7delGCCTGTGinsTTTTTTT splice_region ADK 1 82576 1.21101E-5 41288 0 NA
10-76468074-T-G c.965-5T>G splice_region ADK 1 82702 1.20916E-5 41351 0 NA
10-76468092-A-G p.Gln326Gln synonymous ADK 2 82712 2.41803E-5 41356 0 8.24334E-6
10-76468101-T-C p.Ser329Ser synonymous ADK 169 82678 0.00204407 41339 2 0.00453848
10-76468108-C-T p.Pro332Ser missense ADK 2 82690 2.41867E-5 41345 0 NA
10-76468109-C-T p.Pro332Leu missense ADK 1 82706 1.2091E-5 41353 0 NA
10-76468116-T-A p.Thr334Thr synonymous ADK 1 82658 1.2098E-5 41329 0 3.99049E-6
10-76468117-G-GTAAGAGA p.Glu335fs frameshift ADK 1 82658 1.2098E-5 41329 0 3.99084E-6
10-76468126-C-T p.Arg338Cys missense ADK 2 82604 2.42119E-5 41302 0 2.39475E-5
10-76468127-G-A p.Arg338His missense ADK 4 82604 4.84238E-5 41302 0 4.94454E-5
10-76468140-T-C p.Tyr342Tyr synonymous ADK 1 82526 1.21174E-5 41263 0 NA
10-76468200-C-T p.His362His synonymous ADK 1 82242 1.21592E-5 41121 0 3.18756E-5
10-76468202-G-A p.Ter363Ter stop_retained ADK 220 82226 0.00267555 41113 2 0.0075
10-76468296-C-G c.*93C>G splice_region ADK 1 79236 1.26205E-5 39618 0 NA