Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-15120487-T-C n.473A>G splice_region ACBD7 1 82398 1.21362E-5 41199 0 6.47668E-4
10-15120536-C-T p.Gly87Glu missense ACBD7 1 83082 1.20363E-5 41541 0 NA
10-15120537-C-T p.Gly87Arg missense ACBD7 1 83082 1.20363E-5 41541 0 8.2394E-5
10-15120538-G-A p.Tyr86Tyr synonymous ACBD7 15 83072 1.80566E-4 41536 0 0.00120299
10-15120552-G-C p.Leu82Val missense ACBD7 1 83088 1.20354E-5 41544 0 NA
10-15120559-T-C p.Ala79Ala synonymous ACBD7 11 83094 1.3238E-4 41547 0 0.00125156
10-15120571-A-G p.Tyr75Tyr synonymous ACBD7 4 83108 4.81301E-5 41554 0 6.36862E-5
10-15120580-C-T p.Thr72Thr synonymous ACBD7 1 83104 1.20331E-5 41552 0 8.23968E-6
10-15120581-G-A p.Thr72Met missense ACBD7 1 83106 1.20328E-5 41553 0 1.64791E-5
10-15120583-C-T p.Ala71Ala synonymous ACBD7 1 83108 1.20325E-5 41554 0 6.59207E-5
10-15120584-G-A p.Ala71Val missense ACBD7 1 83120 1.20308E-5 41560 0 1.64815E-5
10-15120586-A-C p.Asp70Glu missense ACBD7 1 83118 1.20311E-5 41559 0 NA
10-15120592-C-T p.Thr68Thr synonymous ACBD7 28 83112 3.36895E-4 41556 0 6.37308E-5
10-15120595-C-T p.Ser67Ser synonymous ACBD7 1 83102 1.20334E-5 41551 0 8.24103E-6
10-15120596-G-A p.Ser67Leu missense ACBD7 2 83102 2.40668E-5 41551 0 7.95963E-6
10-15120598-C-T p.Leu66Leu synonymous ACBD7 1 83112 1.2032E-5 41556 0 3.97978E-6
10-15120599-A-G p.Leu66Ser missense ACBD7 3 83108 3.60976E-5 41554 0 NA
10-15120601-C-T p.Gly65Gly splice_region+synonymous ACBD7 1 83112 1.2032E-5 41556 0 NA
10-15120602-C-T p.Gly65Glu missense+splice_region ACBD7 2 83112 2.40639E-5 41556 0 3.18695E-5
10-15120604-T-C c.194-2A>G splice_acceptor ACBD7 38 83120 4.5717E-4 41560 1 0.003125
10-15120697-G-A p.Leu62Leu synonymous ACBD7 32 82906 3.85979E-4 41453 0 0.00151057
10-15120708-C-T p.Ala59Thr missense ACBD7 1 82900 1.20627E-5 41450 0 6.37592E-5
10-15120716-T-A p.Lys56Ile missense ACBD7 1 82938 1.20572E-5 41469 0 8.37928E-6
10-15120725-C-T p.Gly53Asp missense ACBD7 4 82926 4.82358E-5 41463 0 1.09577E-4
10-15120739-C-T p.Met48Ile missense ACBD7 2 82948 2.41115E-5 41474 0 6.25E-4
10-15120741-T-C p.Met48Val missense ACBD7 3 82960 3.6162E-5 41480 0 8.56282E-6
10-15120747-G-A p.Pro46Ser missense ACBD7 3 82950 3.61664E-5 41475 0 3.18979E-5
10-15120749-C-T p.Cys45Tyr missense ACBD7 1 82946 1.2056E-5 41473 0 3.98886E-6
10-15120751-C-T p.Ala44Ala splice_region+synonymous ACBD7 1 82942 1.20566E-5 41471 0 3.18837E-5
10-15120759-AAAG-A c.131-10_131-8delCTT splice_region ACBD7 7 82924 8.44146E-5 41462 0 3.52131E-5
10-15120914-T-C c.130+8A>G splice_region ACBD7 1 76880 1.30073E-5 38440 0 NA
10-15120919-T-C c.130+3A>G splice_region ACBD7 677 77884 0.00869241 38942 17 0.0178511
10-15120921-C-A c.130+1G>T splice_donor ACBD7 2 78204 2.55741E-5 39102 0 NA
10-15120922-C-T p.Ala44Thr missense+splice_region ACBD7 1 78300 1.27714E-5 39150 0 NA
10-15120926-A-G p.Asn42Asn synonymous ACBD7 1 79864 1.25213E-5 39932 0 1.34427E-4
10-15120942-A-C p.Ile37Arg missense ACBD7 198 81208 0.00243818 40604 1 0.00194703
10-15120949-G-A p.Gln35* stop_gained ACBD7 1 81438 1.22793E-5 40719 0 8.31145E-6
10-15120963-T-C p.Tyr30Cys missense ACBD7 3 82802 3.6231E-5 41401 0 1.95848E-4
10-15120965-G-C p.Leu29Leu synonymous ACBD7 2 82822 2.41482E-5 41411 0 3.2684E-5
10-15120975-A-G p.Leu26Pro missense ACBD7 1 82888 1.20645E-5 41444 0 8.24022E-6
10-15120987-T-C p.Asp22Gly missense ACBD7 2 82940 2.41138E-5 41470 0 NA
10-15120995-T-C p.Ala19Ala synonymous ACBD7 2 82940 2.41138E-5 41470 0 4.00786E-6
10-15120996-G-T p.Ala19Glu missense ACBD7 1 82940 1.20569E-5 41470 0 4.0093E-6
10-15120997-C-T p.Ala19Thr missense ACBD7 7 82916 8.44228E-5 41458 0 6.48298E-5
10-15121008-CT-C p.Arg15fs frameshift ACBD7 1 82940 1.20569E-5 41470 0 NA
10-15121044-A-G c.13-5T>C splice_region ACBD7 2 82632 2.42037E-5 41316 0 NA
10-15121045-G-T c.13-6C>A splice_region ACBD7 1 82630 1.21021E-5 41315 0 3.22622E-5
10-15121046-G-A c.13-7C>T splice_region ACBD7 1 82614 1.21045E-5 41307 0 NA
10-15130723-G-A p.Ala2Val missense ACBD7 1 52334 1.9108E-5 26167 0 9.22628E-6