| 15101643 | CV702978 | single nucleotide variant | NM_001037161.2(ACOT1):c.168C>T (p.Thr56=) | not provided [RCV000959133] | likely benign | 14 | 73537589 | 73537589 | Human | | name |
| 15101650 | CV702979 | single nucleotide variant | NM_001037161.2(ACOT1):c.267C>T (p.Pro89=) | not provided [RCV000959134] | likely benign | 14 | 73537688 | 73537688 | Human | | name |
| 15144599 | CV739305 | single nucleotide variant | NM_001037161.2(ACOT1):c.150G>A (p.Ala50=) | not provided [RCV000900028] | benign | 14 | 73537571 | 73537571 | Human | | name |
| 156084867 | CV2249290 | single nucleotide variant | NM_001037161.2(ACOT1):c.46G>A (p.Asp16Asn) | not specified [RCV004118316] | uncertain significance | 14 | 73537467 | 73537467 | Human | | name |
| 401868431 | CV2781206 | single nucleotide variant | NM_001037161.2(ACOT1):c.52C>A (p.Pro18Thr) | not specified [RCV004352247] | uncertain significance | 14 | 73537473 | 73537473 | Human | | name |
| 405694431 | CV3226475 | single nucleotide variant | NM_001037161.2(ACOT1):c.85G>A (p.Glu29Lys) | not provided [RCV003992868] | benign | 14 | 73537506 | 73537506 | Human | | name |
| 156192893 | CV2344123 | single nucleotide variant | NM_001037161.2(ACOT1):c.265C>T (p.Pro89Ser) | not provided [RCV003396852]|not specified [RCV004195722] | likely benign|uncertain significance | 14 | 73537686 | 73537686 | Human | | name |
| 405713071 | CV3299102 | single nucleotide variant | NM_001037161.2(ACOT1):c.199G>C (p.Ala67Pro) | not specified [RCV004427101] | uncertain significance | 14 | 73537620 | 73537620 | Human | | name |
| 15147069 | CV739306 | deletion | NM_001037161.2(ACOT1):c.605del (p.Thr202fs) | not provided [RCV000900441] | likely benign | 14 | 73541640 | 73541640 | Human | | name |
| 156246512 | CV2263756 | single nucleotide variant | NM_001037161.2(ACOT1):c.679G>A (p.Gly227Arg) | not specified [RCV004136045] | uncertain significance | 14 | 73543068 | 73543068 | Human | | name |
| 156244588 | CV2283360 | single nucleotide variant | NM_001037161.2(ACOT1):c.443T>G (p.Leu148Arg) | not specified [RCV004146014] | uncertain significance | 14 | 73537864 | 73537864 | Human | | name |
| 155910652 | CV2303642 | single nucleotide variant | NM_001037161.2(ACOT1):c.754G>A (p.Val252Ile) | not specified [RCV004161723] | uncertain significance | 14 | 73543143 | 73543143 | Human | | name |
| 156278087 | CV2330890 | single nucleotide variant | NM_001037161.2(ACOT1):c.983A>G (p.Asn328Ser) | not specified [RCV004185943] | uncertain significance | 14 | 73543372 | 73543372 | Human | | name |
| 156050397 | CV2336591 | single nucleotide variant | NM_001037161.2(ACOT1):c.383A>G (p.Tyr128Cys) | not provided [RCV003396845]|not specified [RCV004196839] | likely benign|uncertain significance | 14 | 73537804 | 73537804 | Human | | name |
| 156123787 | CV2350053 | single nucleotide variant | NM_001037161.2(ACOT1):c.322G>A (p.Val108Met) | not specified [RCV004199979] | uncertain significance | 14 | 73537743 | 73537743 | Human | | name |
| 156049444 | CV2391085 | single nucleotide variant | NM_001037161.2(ACOT1):c.521G>A (p.Arg174Gln) | not specified [RCV004235074] | uncertain significance | 14 | 73541556 | 73541556 | Human | | name |
| 329364946 | CV2444056 | single nucleotide variant | NM_001037161.2(ACOT1):c.674G>A (p.Gly225Glu) | not specified [RCV004258372] | uncertain significance | 14 | 73543063 | 73543063 | Human | | name |
| 329351632 | CV2459211 | single nucleotide variant | NM_001037161.2(ACOT1):c.829G>A (p.Val277Ile) | not specified [RCV004274652] | uncertain significance | 14 | 73543218 | 73543218 | Human | | name |
| 401721823 | CV2680690 | single nucleotide variant | NM_001037161.2(ACOT1):c.782T>C (p.Val261Ala) | not specified [RCV004291303] | uncertain significance | 14 | 73543171 | 73543171 | Human | | name |
| 401768808 | CV2735438 | single nucleotide variant | NM_001037161.2(ACOT1):c.796C>T (p.Arg266Cys) | not specified [RCV004330998] | uncertain significance | 14 | 73543185 | 73543185 | Human | | name |
| 401869002 | CV2767405 | single nucleotide variant | NM_001037161.2(ACOT1):c.849G>C (p.Lys283Asn) | not specified [RCV004349562] | uncertain significance | 14 | 73543238 | 73543238 | Human | | name |
| 401888337 | CV2788347 | single nucleotide variant | NM_001037161.2(ACOT1):c.520C>T (p.Arg174Trp) | not specified [RCV004352925] | uncertain significance | 14 | 73541555 | 73541555 | Human | | name |
| 405713132 | CV3299112 | single nucleotide variant | NM_001037161.2(ACOT1):c.350G>A (p.Gly117Glu) | not specified [RCV004427111] | uncertain significance | 14 | 73537771 | 73537771 | Human | | name |
| 405713162 | CV3299116 | single nucleotide variant | NM_001037161.2(ACOT1):c.361T>G (p.Cys121Gly) | not specified [RCV004427115] | likely benign | 14 | 73537782 | 73537782 | Human | | name |
| 405713186 | CV3299119 | single nucleotide variant | NM_001037161.2(ACOT1):c.382T>G (p.Tyr128Asp) | not specified [RCV004427118] | likely benign | 14 | 73537803 | 73537803 | Human | | name |
| 405713279 | CV3299133 | single nucleotide variant | NM_001037161.2(ACOT1):c.535G>C (p.Ala179Pro) | not specified [RCV004427132] | uncertain significance | 14 | 73541570 | 73541570 | Human | | name |
| 405713291 | CV3299135 | single nucleotide variant | NM_001037161.2(ACOT1):c.605C>T (p.Thr202Met) | not specified [RCV004427134] | uncertain significance | 14 | 73541640 | 73541640 | Human | | name |
| 405713317 | CV3299139 | single nucleotide variant | NM_001037161.2(ACOT1):c.704G>A (p.Gly235Asp) | not specified [RCV004427138] | uncertain significance | 14 | 73543093 | 73543093 | Human | | name |
| 405713331 | CV3299141 | single nucleotide variant | NM_001037161.2(ACOT1):c.722T>C (p.Met241Thr) | not specified [RCV004427140] | uncertain significance | 14 | 73543111 | 73543111 | Human | | name |
| 407476809 | CV3421473 | single nucleotide variant | NM_001037161.2(ACOT1):c.416T>G (p.Val139Gly) | not specified [RCV004602537] | uncertain significance | 14 | 73537837 | 73537837 | Human | | name |
| 407476814 | CV3421477 | single nucleotide variant | NM_001037161.2(ACOT1):c.926T>C (p.Ile309Thr) | not specified [RCV004602541] | uncertain significance | 14 | 73543315 | 73543315 | Human | | name |
| 407476818 | CV3421483 | single nucleotide variant | NM_001037161.2(ACOT1):c.850G>A (p.Val284Met) | not specified [RCV004602546] | likely benign | 14 | 73543239 | 73543239 | Human | | name |
| 407477345 | CV3421489 | single nucleotide variant | NM_001037161.2(ACOT1):c.917A>T (p.Lys306Met) | not specified [RCV004607158] | uncertain significance | 14 | 73543306 | 73543306 | Human | | name |
| 597718934 | CV3646802 | single nucleotide variant | NM_001037161.2(ACOT1):c.560C>T (p.Ala187Val) | not specified [RCV004887566] | uncertain significance | 14 | 73541595 | 73541595 | Human | | name |
| 597718945 | CV3646805 | single nucleotide variant | NM_001037161.2(ACOT1):c.842G>A (p.Arg281His) | not specified [RCV004887567] | uncertain significance | 14 | 73543231 | 73543231 | Human | | name |
| 597718952 | CV3646810 | single nucleotide variant | NM_001037161.2(ACOT1):c.920G>A (p.Ser307Asn) | not specified [RCV004887568] | uncertain significance | 14 | 73543309 | 73543309 | Human | | name |
| 597718959 | CV3646813 | single nucleotide variant | NM_001037161.2(ACOT1):c.784G>A (p.Gly262Arg) | not specified [RCV004887569] | uncertain significance | 14 | 73543173 | 73543173 | Human | | name |
| 598276733 | CV3949377 | single nucleotide variant | NM_001037161.2(ACOT1):c.791C>T (p.Thr264Ile) | not specified [RCV005305867] | uncertain significance | 14 | 73543180 | 73543180 | Human | | name |
| 598161197 | CV3949388 | single nucleotide variant | NM_001037161.2(ACOT1):c.808G>A (p.Glu270Lys) | not specified [RCV005306961] | uncertain significance | 14 | 73543197 | 73543197 | Human | | name |
| 15149217 | CV739307 | single nucleotide variant | NM_001037161.2(ACOT1):c.824T>C (p.Val275Ala) | not provided [RCV000900888] | benign | 14 | 73543213 | 73543213 | Human | | name |
| 15149223 | CV739308 | single nucleotide variant | NM_001037161.2(ACOT1):c.827G>C (p.Gly276Ala) | not provided [RCV000900889] | benign | 14 | 73543216 | 73543216 | Human | | name |
| 156137674 | CV2280604 | single nucleotide variant | NM_001037161.2(ACOT1):c.1106T>C (p.Leu369Pro) | not specified [RCV004143083] | uncertain significance | 14 | 73543495 | 73543495 | Human | | name |
| 156280886 | CV2321714 | single nucleotide variant | NM_001037161.2(ACOT1):c.1053G>C (p.Gln351His) | not specified [RCV004179713] | uncertain significance | 14 | 73543442 | 73543442 | Human | | name |
| 401724149 | CV2714732 | single nucleotide variant | NM_001037161.2(ACOT1):c.1015T>C (p.Cys339Arg) | not specified [RCV004320304] | uncertain significance | 14 | 73543404 | 73543404 | Human | | name |
| 407476824 | CV3421493 | single nucleotide variant | NM_001037161.2(ACOT1):c.1052A>T (p.Gln351Leu) | not specified [RCV004602554] | uncertain significance | 14 | 73543441 | 73543441 | Human | | name |
| 597718966 | CV3646818 | single nucleotide variant | NM_001037161.2(ACOT1):c.1003G>T (p.Ala335Ser) | not specified [RCV004887570] | uncertain significance | 14 | 73543392 | 73543392 | Human | | name |
| 598161221 | CV3949401 | single nucleotide variant | NM_001037161.2(ACOT1):c.1055T>A (p.Ile352Asn) | not specified [RCV005306966] | uncertain significance | 14 | 73543444 | 73543444 | Human | | name |
| 15166893 | CV702980 | single nucleotide variant | NM_001037161.2(ACOT1):c.1238A>G (p.His413Arg) | not provided [RCV000948938] | likely benign | 14 | 73543627 | 73543627 | Human | | name |
| 12791783 | CV362157 | deletion | NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs) | Generalized hypotonia [RCV000416479] | pathogenic | 14 | 73537826 | 73537839 | Human | 2 | name |
| 15156589 | CV778905 | single nucleotide variant | NM_147161.4(ACOT11):c.884+6G>T | not provided [RCV000969141] | benign | 1 | 54599421 | 54599421 | Human | | name |
| 15173640 | CV778821 | single nucleotide variant | NM_147161.4(ACOT11):c.1629+9G>A | not provided [RCV000972629] | benign | 1 | 54608077 | 54608077 | Human | | name |
| 150482391 | CV1244269 | single nucleotide variant | NM_015547.4(ACOT11):c.1629+2689A>G | not provided [RCV001653116] | benign | 1 | 54610757 | 54610757 | Human | | name |
| 405735709 | CV3295557 | single nucleotide variant | NM_018473.4(ACOT13):c.26G>A (p.Arg9Gln) | not specified [RCV004429932] | uncertain significance | 6 | 24667289 | 24667289 | Human | | name |
| 15156583 | CV707460 | single nucleotide variant | NM_147161.4(ACOT11):c.159G>A (p.Val53=) | not provided [RCV000969140] | benign | 1 | 54584780 | 54584780 | Human | | name |
| 156392534 | CV2386448 | single nucleotide variant | NM_147161.4(ACOT11):c.67C>T (p.Arg23Trp) | not specified [RCV004230819] | uncertain significance | 1 | 54584688 | 54584688 | Human | | name |
| 329392069 | CV2445282 | single nucleotide variant | NM_018473.4(ACOT13):c.45G>T (p.Met15Ile) | not specified [RCV004263910] | uncertain significance | 6 | 24667308 | 24667308 | Human | | name |
| 401729462 | CV2690245 | single nucleotide variant | NM_147161.4(ACOT11):c.86C>T (p.Ala29Val) | not provided [RCV004691576]|not specified [RCV004302250] | uncertain significance | 1 | 54584707 | 54584707 | Human | | name |
| 401915293 | CV2827870 | single nucleotide variant | NM_130767.3(ACOT12):c.477G>A (p.Lys159=) | not provided [RCV003428551] | likely benign | 5 | 81359922 | 81359922 | Human | | name |
| 405736426 | CV3295569 | single nucleotide variant | NM_018473.4(ACOT13):c.45G>A (p.Met15Ile) | not specified [RCV004429944] | uncertain significance | 6 | 24667308 | 24667308 | Human | | name |
| 407488209 | CV3421504 | single nucleotide variant | NM_147161.4(ACOT11):c.32G>A (p.Arg11Gln) | not specified [RCV004603934] | uncertain significance | 1 | 54548341 | 54548341 | Human | | name |
| 597719008 | CV3646847 | single nucleotide variant | NM_147161.4(ACOT11):c.82C>T (p.Arg28Cys) | not specified [RCV004887575] | uncertain significance | 1 | 54584703 | 54584703 | Human | | name |
| 598276775 | CV3949443 | single nucleotide variant | NM_147161.4(ACOT11):c.32G>T (p.Arg11Leu) | not specified [RCV005305909] | uncertain significance | 1 | 54548341 | 54548341 | Human | | name |
| 155920830 | CV2279658 | single nucleotide variant | NM_130767.3(ACOT12):c.136C>T (p.His46Tyr) | not specified [RCV004142153] | uncertain significance | 5 | 81385818 | 81385818 | Human | | name |
| 329373841 | CV2434632 | single nucleotide variant | NM_018473.4(ACOT13):c.185C>T (p.Thr62Met) | not specified [RCV004248356] | uncertain significance | 6 | 24697986 | 24697986 | Human | | name |
| 329401297 | CV2442312 | single nucleotide variant | NM_130767.3(ACOT12):c.280C>A (p.Gln94Lys) | not specified [RCV004264788] | uncertain significance | 5 | 81363868 | 81363868 | Human | | name |
| 401759365 | CV2701515 | single nucleotide variant | NM_147161.4(ACOT11):c.161T>C (p.Leu54Pro) | not specified [RCV004313966] | uncertain significance | 1 | 54584782 | 54584782 | Human | | name |
| 405713599 | CV3295285 | single nucleotide variant | NM_147161.4(ACOT11):c.124C>T (p.Arg42Trp) | not specified [RCV004427180] | uncertain significance | 1 | 54584745 | 54584745 | Human | | name |
| 405713860 | CV3295322 | single nucleotide variant | NM_147161.4(ACOT11):c.284A>G (p.Asp95Gly) | not specified [RCV004427217] | uncertain significance | 1 | 54585877 | 54585877 | Human | | name |
| 405714834 | CV3295462 | single nucleotide variant | NM_130767.3(ACOT12):c.236G>A (p.Arg79Lys) | not specified [RCV004427357] | uncertain significance | 5 | 81371772 | 81371772 | Human | | name |
| 405714858 | CV3295466 | single nucleotide variant | NM_130767.3(ACOT12):c.254T>C (p.Met85Thr) | not specified [RCV004427361] | uncertain significance | 5 | 81371754 | 81371754 | Human | | name |
| 405735600 | CV3295544 | single nucleotide variant | NM_018473.4(ACOT13):c.175T>G (p.Leu59Val) | not specified [RCV004429919] | uncertain significance | 6 | 24697976 | 24697976 | Human | | name |
| 405735624 | CV3295547 | single nucleotide variant | NM_018473.4(ACOT13):c.176T>G (p.Leu59Trp) | not specified [RCV004429922] | uncertain significance | 6 | 24697977 | 24697977 | Human | | name |
| 407488423 | CV3421545 | single nucleotide variant | NM_130767.3(ACOT12):c.149C>T (p.Ser50Phe) | not specified [RCV004603972] | uncertain significance | 5 | 81385805 | 81385805 | Human | | name |
| 597719180 | CV3643092 | single nucleotide variant | NM_018473.4(ACOT13):c.199A>G (p.Ile67Val) | not specified [RCV004887596] | uncertain significance | 6 | 24698000 | 24698000 | Human | | name |
| 597719251 | CV3643101 | single nucleotide variant | NM_018473.4(ACOT13):c.241G>A (p.Gly81Arg) | not specified [RCV004887605] | uncertain significance | 6 | 24698042 | 24698042 | Human | | name |
| 597719033 | CV3646866 | single nucleotide variant | NM_147161.4(ACOT11):c.125G>A (p.Arg42Gln) | not specified [RCV004887578] | uncertain significance | 1 | 54584746 | 54584746 | Human | | name |
| 15104525 | CV719018 | single nucleotide variant | NM_147161.4(ACOT11):c.1518C>T (p.Ile506=) | not provided [RCV000892902] | benign | 1 | 54607957 | 54607957 | Human | | name |
| 156144756 | CV2200187 | single nucleotide variant | NM_147161.4(ACOT11):c.541C>T (p.Arg181Trp) | not specified [RCV004069752] | uncertain significance | 1 | 54594625 | 54594625 | Human | | name |
| 156317289 | CV2203950 | single nucleotide variant | NM_147161.4(ACOT11):c.625T>C (p.Cys209Arg) | not specified [RCV004069996] | uncertain significance | 1 | 54597276 | 54597276 | Human | | name |
| 156398290 | CV2204516 | single nucleotide variant | NM_147161.4(ACOT11):c.641C>T (p.Pro214Leu) | not specified [RCV004079314] | uncertain significance | 1 | 54597292 | 54597292 | Human | | name |
| 156382601 | CV2223555 | single nucleotide variant | NM_130767.3(ACOT12):c.821C>G (p.Ala274Gly) | not specified [RCV004091926] | uncertain significance | 5 | 81344994 | 81344994 | Human | | name |
| 156020018 | CV2230200 | single nucleotide variant | NM_147161.4(ACOT11):c.718G>A (p.Gly240Ser) | not specified [RCV004099829] | uncertain significance | 1 | 54597369 | 54597369 | Human | | name |
| 155951451 | CV2238787 | single nucleotide variant | NM_018473.4(ACOT13):c.341C>A (p.Ala114Glu) | not specified [RCV004109710] | uncertain significance | 6 | 24701533 | 24701533 | Human | | name |
| 156115143 | CV2268749 | single nucleotide variant | NM_147161.4(ACOT11):c.497G>A (p.Arg166Gln) | not specified [RCV004124140] | uncertain significance | 1 | 54594581 | 54594581 | Human | | name |
| 156266189 | CV2275457 | single nucleotide variant | NM_130767.3(ACOT12):c.710G>A (p.Gly237Glu) | not specified [RCV004135328] | uncertain significance | 5 | 81345948 | 81345948 | Human | | name |
| 156256213 | CV2325846 | single nucleotide variant | NM_018473.4(ACOT13):c.316G>C (p.Val106Leu) | not specified [RCV004173723] | uncertain significance | 6 | 24701508 | 24701508 | Human | | name |
| 156192024 | CV2335970 | single nucleotide variant | NM_130767.3(ACOT12):c.823G>A (p.Glu275Lys) | not specified [RCV004189579] | uncertain significance | 5 | 81344992 | 81344992 | Human | | name |
| 155923036 | CV2347430 | single nucleotide variant | NM_147161.4(ACOT11):c.542G>A (p.Arg181Gln) | not specified [RCV004207264] | uncertain significance | 1 | 54594626 | 54594626 | Human | | name |
| 156172339 | CV2355068 | single nucleotide variant | NM_130767.3(ACOT12):c.836G>A (p.Arg279His) | not specified [RCV004198462] | uncertain significance | 5 | 81344979 | 81344979 | Human | | name |
| 156147004 | CV2357977 | single nucleotide variant | NM_147161.4(ACOT11):c.491C>T (p.Thr164Met) | not specified [RCV004209757] | uncertain significance | 1 | 54594575 | 54594575 | Human | | name |
| 156011384 | CV2362239 | single nucleotide variant | NM_130767.3(ACOT12):c.575C>A (p.Pro192His) | not specified [RCV004210035] | uncertain significance | 5 | 81347852 | 81347852 | Human | | name |
| 156281573 | CV2363058 | single nucleotide variant | NM_147161.4(ACOT11):c.631C>T (p.Arg211Cys) | not specified [RCV004211190] | uncertain significance | 1 | 54597282 | 54597282 | Human | | name |
| 156156976 | CV2378639 | single nucleotide variant | NM_130767.3(ACOT12):c.779A>C (p.Glu260Ala) | not specified [RCV004231112] | uncertain significance | 5 | 81345036 | 81345036 | Human | | name |
| 156099605 | CV2392880 | single nucleotide variant | NM_130767.3(ACOT12):c.568C>G (p.Leu190Val) | not specified [RCV004247232] | uncertain significance | 5 | 81347859 | 81347859 | Human | | name |
| 329400207 | CV2440741 | single nucleotide variant | NM_130767.3(ACOT12):c.428G>A (p.Arg143Lys) | not specified [RCV004258688] | uncertain significance | 5 | 81359971 | 81359971 | Human | | name |
| 329363572 | CV2442311 | single nucleotide variant | NM_147161.4(ACOT11):c.323T>G (p.Val108Gly) | not specified [RCV004264787] | uncertain significance | 1 | 54592557 | 54592557 | Human | | name |
| 329364909 | CV2444032 | single nucleotide variant | NM_147161.4(ACOT11):c.560A>G (p.Tyr187Cys) | not specified [RCV004258351] | uncertain significance | 1 | 54594644 | 54594644 | Human | | name |
| 329377680 | CV2449934 | single nucleotide variant | NM_130767.3(ACOT12):c.638C>A (p.Ala213Asp) | not specified [RCV004269006] | uncertain significance | 5 | 81347789 | 81347789 | Human | | name |
| 329397568 | CV2456305 | single nucleotide variant | NM_130767.3(ACOT12):c.713C>T (p.Pro238Leu) | not specified [RCV004275474] | uncertain significance | 5 | 81345945 | 81345945 | Human | | name |
| 329376372 | CV2465147 | single nucleotide variant | NM_147161.4(ACOT11):c.591C>G (p.Asn197Lys) | not specified [RCV004287201] | uncertain significance | 1 | 54594675 | 54594675 | Human | | name |
| 401757249 | CV2675192 | single nucleotide variant | NM_130767.3(ACOT12):c.706C>T (p.Arg236Trp) | not specified [RCV004289964] | uncertain significance | 5 | 81345952 | 81345952 | Human | | name |
| 401730531 | CV2677214 | single nucleotide variant | NM_018473.4(ACOT13):c.299T>C (p.Ile100Thr) | not specified [RCV004295839] | uncertain significance | 6 | 24701491 | 24701491 | Human | | name |
| 401747874 | CV2687618 | single nucleotide variant | NM_130767.3(ACOT12):c.830G>C (p.Arg277Pro) | not specified [RCV004300836] | uncertain significance | 5 | 81344985 | 81344985 | Human | | name |
| 401748117 | CV2698933 | single nucleotide variant | NM_130767.3(ACOT12):c.343C>T (p.Pro115Ser) | not specified [RCV004303470] | uncertain significance | 5 | 81363805 | 81363805 | Human | | name |
| 401761427 | CV2699304 | single nucleotide variant | NM_018473.4(ACOT13):c.406A>G (p.Lys136Glu) | not specified [RCV004305901] | uncertain significance | 6 | 24701598 | 24701598 | Human | | name |
| 401878818 | CV2770290 | single nucleotide variant | NM_130767.3(ACOT12):c.550C>G (p.Gln184Glu) | not specified [RCV004356169] | uncertain significance | 5 | 81347877 | 81347877 | Human | | name |
| 401870226 | CV2792313 | single nucleotide variant | NM_130767.3(ACOT12):c.692A>T (p.Asp231Val) | not specified [RCV004361493] | uncertain significance | 5 | 81345966 | 81345966 | Human | | name |
| 405713995 | CV3295341 | single nucleotide variant | NM_147161.4(ACOT11):c.545G>A (p.Arg182His) | not specified [RCV004427236] | uncertain significance | 1 | 54594629 | 54594629 | Human | | name |
| 405714007 | CV3295343 | single nucleotide variant | NM_147161.4(ACOT11):c.556G>A (p.Val186Ile) | not specified [RCV004427238] | uncertain significance | 1 | 54594640 | 54594640 | Human | | name |
| 405714283 | CV3295383 | single nucleotide variant | NM_147161.4(ACOT11):c.644C>A (p.Ala215Asp) | not specified [RCV004427278] | uncertain significance | 1 | 54597295 | 54597295 | Human | | name |
| 405714380 | CV3295396 | single nucleotide variant | NM_147161.4(ACOT11):c.680T>C (p.Leu227Pro) | not specified [RCV004427291] | uncertain significance | 1 | 54597331 | 54597331 | Human | | name |
| 405714419 | CV3295401 | single nucleotide variant | NM_147161.4(ACOT11):c.767G>A (p.Arg256Gln) | not specified [RCV004427296] | uncertain significance | 1 | 54599298 | 54599298 | Human | | name |
| 405714427 | CV3295403 | single nucleotide variant | NM_147161.4(ACOT11):c.910G>A (p.Ala304Thr) | not specified [RCV004427298] | uncertain significance | 1 | 54601294 | 54601294 | Human | | name |
| 405714433 | CV3295404 | single nucleotide variant | NM_147161.4(ACOT11):c.916C>T (p.Arg306Cys) | not specified [RCV004427299] | uncertain significance | 1 | 54601300 | 54601300 | Human | | name |
| 405714440 | CV3295405 | single nucleotide variant | NM_147161.4(ACOT11):c.917G>A (p.Arg306His) | not specified [RCV004427300] | uncertain significance | 1 | 54601301 | 54601301 | Human | | name |
| 405734847 | CV3295472 | single nucleotide variant | NM_130767.3(ACOT12):c.308T>G (p.Leu103Arg) | not specified [RCV004429847] | uncertain significance | 5 | 81363840 | 81363840 | Human | | name |
| 405734883 | CV3295476 | single nucleotide variant | NM_130767.3(ACOT12):c.337G>C (p.Ala113Pro) | not specified [RCV004429851] | uncertain significance | 5 | 81363811 | 81363811 | Human | | name |
| 405734939 | CV3295483 | single nucleotide variant | NM_130767.3(ACOT12):c.485G>A (p.Ser162Asn) | not specified [RCV004429858] | uncertain significance | 5 | 81359914 | 81359914 | Human | | name |
| 405735053 | CV3295497 | single nucleotide variant | NM_130767.3(ACOT12):c.628G>C (p.Glu210Gln) | not specified [RCV004429872] | uncertain significance | 5 | 81347799 | 81347799 | Human | | name |
| 405735456 | CV3295526 | single nucleotide variant | NM_130767.3(ACOT12):c.830G>A (p.Arg277Gln) | not specified [RCV004429901] | likely benign | 5 | 81344985 | 81344985 | Human | | name |
| 405735531 | CV3295536 | single nucleotide variant | NM_130767.3(ACOT12):c.938G>T (p.Arg313Leu) | not specified [RCV004429911] | uncertain significance | 5 | 81344202 | 81344202 | Human | | name |
| 405735564 | CV3295540 | single nucleotide variant | NM_130767.3(ACOT12):c.944G>A (p.Arg315Gln) | not specified [RCV004429915] | uncertain significance | 5 | 81344196 | 81344196 | Human | | name |
| 407488304 | CV3421523 | single nucleotide variant | NM_130767.3(ACOT12):c.403G>A (p.Val135Met) | not specified [RCV004603952] | uncertain significance | 5 | 81359996 | 81359996 | Human | | name |
| 407488525 | CV3421564 | single nucleotide variant | NM_018473.4(ACOT13):c.300A>G (p.Ile100Met) | not specified [RCV004603990] | uncertain significance | 6 | 24701492 | 24701492 | Human | | name |
| 597719100 | CV3643055 | single nucleotide variant | NM_130767.3(ACOT12):c.865A>G (p.Asn289Asp) | not specified [RCV004887586] | uncertain significance | 5 | 81344950 | 81344950 | Human | | name |
| 597719111 | CV3643064 | single nucleotide variant | NM_130767.3(ACOT12):c.607G>T (p.Gly203Cys) | not specified [RCV004887587] | uncertain significance | 5 | 81347820 | 81347820 | Human | | name |
| 597719119 | CV3643073 | single nucleotide variant | NM_130767.3(ACOT12):c.812A>G (p.Gln271Arg) | not specified [RCV004887588] | uncertain significance | 5 | 81345003 | 81345003 | Human | | name |
| 597719130 | CV3643082 | single nucleotide variant | NM_130767.3(ACOT12):c.818G>C (p.Trp273Ser) | not specified [RCV004887589] | uncertain significance | 5 | 81344997 | 81344997 | Human | | name |
| 597718976 | CV3646824 | single nucleotide variant | NM_147161.4(ACOT11):c.982G>A (p.Ala328Thr) | not specified [RCV004887571] | uncertain significance | 1 | 54601366 | 54601366 | Human | | name |
| 597718994 | CV3646841 | single nucleotide variant | NM_147161.4(ACOT11):c.952A>C (p.Ser318Arg) | not specified [RCV004887573] | uncertain significance | 1 | 54601336 | 54601336 | Human | | name |
| 598276781 | CV3949451 | single nucleotide variant | NM_130767.3(ACOT12):c.958C>T (p.Arg320Cys) | not specified [RCV005305915] | uncertain significance | 5 | 81344182 | 81344182 | Human | | name |
| 598276787 | CV3949461 | single nucleotide variant | NM_130767.3(ACOT12):c.566T>C (p.Val189Ala) | not specified [RCV005305921] | uncertain significance | 5 | 81347861 | 81347861 | Human | | name |
| 598161353 | CV3949467 | single nucleotide variant | NM_130767.3(ACOT12):c.938G>A (p.Arg313His) | not specified [RCV005306990] | uncertain significance | 5 | 81344202 | 81344202 | Human | | name |
| 598161372 | CV3949478 | single nucleotide variant | NM_130767.3(ACOT12):c.970C>A (p.Arg324Ser) | not specified [RCV005306994] | uncertain significance | 5 | 81344170 | 81344170 | Human | | name |
| 598161392 | CV3949488 | single nucleotide variant | NM_130767.3(ACOT12):c.424G>A (p.Glu142Lys) | not specified [RCV005306998] | uncertain significance | 5 | 81359975 | 81359975 | Human | | name |
| 598247907 | CV3949503 | single nucleotide variant | NM_130767.3(ACOT12):c.689T>C (p.Val230Ala) | not specified [RCV005297946] | uncertain significance | 5 | 81345969 | 81345969 | Human | | name |
| 156399414 | CV2205102 | single nucleotide variant | NM_130767.3(ACOT12):c.1456A>G (p.Ile486Val) | not specified [RCV004077703] | likely benign | 5 | 81330876 | 81330876 | Human | | name |
| 156387188 | CV2221433 | single nucleotide variant | NM_147161.4(ACOT11):c.1571G>A (p.Arg524His) | not specified [RCV004096724] | uncertain significance | 1 | 54608010 | 54608010 | Human | | name |
| 156168826 | CV2266701 | single nucleotide variant | NM_130767.3(ACOT12):c.1117A>G (p.Thr373Ala) | not specified [RCV004137536] | likely benign | 5 | 81342683 | 81342683 | Human | | name |
| 156367955 | CV2266907 | single nucleotide variant | NM_130767.3(ACOT12):c.1345A>G (p.Lys449Glu) | not specified [RCV004131569] | uncertain significance | 5 | 81332523 | 81332523 | Human | | name |
| 156360210 | CV2269000 | single nucleotide variant | NM_130767.3(ACOT12):c.1448C>T (p.Pro483Leu) | not specified [RCV004128398] | uncertain significance | 5 | 81330884 | 81330884 | Human | | name |
| 155957996 | CV2282140 | single nucleotide variant | NM_130767.3(ACOT12):c.1213C>T (p.Arg405Cys) | not specified [RCV004138874] | uncertain significance | 5 | 81335817 | 81335817 | Human | | name |
| 156061000 | CV2305454 | single nucleotide variant | NM_130767.3(ACOT12):c.1370G>A (p.Arg457Gln) | not specified [RCV004165175] | uncertain significance | 5 | 81332498 | 81332498 | Human | | name |
| 156163911 | CV2323640 | single nucleotide variant | NM_130767.3(ACOT12):c.1456A>C (p.Ile486Leu) | not specified [RCV004165827] | uncertain significance | 5 | 81330876 | 81330876 | Human | | name |
| 156083280 | CV2330633 | single nucleotide variant | NM_147161.4(ACOT11):c.1187A>C (p.Lys396Thr) | not specified [RCV004183662] | uncertain significance | 1 | 54604380 | 54604380 | Human | | name |
| 156035403 | CV2338904 | single nucleotide variant | NM_130767.3(ACOT12):c.1339A>C (p.Lys447Gln) | not specified [RCV004184496] | uncertain significance | 5 | 81332529 | 81332529 | Human | | name |
| 156127505 | CV2351216 | single nucleotide variant | NM_147161.4(ACOT11):c.1585T>C (p.Cys529Arg) | not specified [RCV004214064] | uncertain significance | 1 | 54608024 | 54608024 | Human | | name |
| 156059060 | CV2383487 | single nucleotide variant | NM_130767.3(ACOT12):c.1312A>G (p.Ile438Val) | not specified [RCV004222498] | uncertain significance | 5 | 81332556 | 81332556 | Human | | name |
| 156064501 | CV2389488 | single nucleotide variant | NM_130767.3(ACOT12):c.1297G>A (p.Asp433Asn) | not specified [RCV004243569] | uncertain significance | 5 | 81332571 | 81332571 | Human | | name |
| 329367696 | CV2427512 | single nucleotide variant | NM_147161.4(ACOT11):c.1039C>T (p.Arg347Trp) | not specified [RCV004250150] | uncertain significance | 1 | 54602678 | 54602678 | Human | | name |
| 329383189 | CV2441989 | single nucleotide variant | NM_147161.4(ACOT11):c.1528T>C (p.Ser510Pro) | not specified [RCV004262160] | uncertain significance | 1 | 54607967 | 54607967 | Human | | name |
| 329399757 | CV2444144 | single nucleotide variant | NM_130767.3(ACOT12):c.1595T>C (p.Ile532Thr) | not specified [RCV004260883] | uncertain significance | 5 | 81330467 | 81330467 | Human | | name |
| 329400886 | CV2449712 | single nucleotide variant | NM_130767.3(ACOT12):c.1385A>G (p.Lys462Arg) | not specified [RCV004268612] | uncertain significance | 5 | 81332483 | 81332483 | Human | | name |
| 329395941 | CV2451794 | single nucleotide variant | NM_130767.3(ACOT12):c.1376A>G (p.Lys459Arg) | not specified [RCV004276478] | likely benign | 5 | 81332492 | 81332492 | Human | | name |
| 329370287 | CV2461663 | single nucleotide variant | NM_147161.4(ACOT11):c.1164C>G (p.Ser388Arg) | not specified [RCV004269829] | uncertain significance | 1 | 54604357 | 54604357 | Human | | name |
| 329399375 | CV2470067 | single nucleotide variant | NM_147161.4(ACOT11):c.1477T>A (p.Ser493Thr) | not specified [RCV004287331] | uncertain significance | 1 | 54607240 | 54607240 | Human | | name |
| 401758492 | CV2694130 | single nucleotide variant | NM_147161.4(ACOT11):c.1523T>C (p.Leu508Pro) | not specified [RCV004302560] | uncertain significance | 1 | 54607962 | 54607962 | Human | | name |
| 401730305 | CV2711190 | single nucleotide variant | NM_147161.4(ACOT11):c.1016G>C (p.Arg339Pro) | not specified [RCV004312987] | uncertain significance | 1 | 54601400 | 54601400 | Human | | name |
| 401753111 | CV2725188 | single nucleotide variant | NM_147161.4(ACOT11):c.1076G>T (p.Arg359Leu) | not specified [RCV004321714] | uncertain significance | 1 | 54602715 | 54602715 | Human | | name |
| 401781521 | CV2726550 | single nucleotide variant | NM_147161.4(ACOT11):c.1016G>A (p.Arg339Gln) | not specified [RCV004328730] | uncertain significance | 1 | 54601400 | 54601400 | Human | | name |
| 401899184 | CV2786028 | single nucleotide variant | NM_130767.3(ACOT12):c.1468A>G (p.Ile490Val) | not specified [RCV004359853] | uncertain significance | 5 | 81330864 | 81330864 | Human | | name |
| 401881170 | CV2789543 | single nucleotide variant | NM_147161.4(ACOT11):c.1464C>G (p.Phe488Leu) | not specified [RCV004360150] | uncertain significance | 1 | 54607227 | 54607227 | Human | | name |
| 401927739 | CV2812813 | single nucleotide variant | NM_147161.4(ACOT11):c.1223C>T (p.Ser408Leu) | not provided [RCV003406505] | likely benign | 1 | 54604416 | 54604416 | Human | | name |
| 405713528 | CV3295275 | single nucleotide variant | NM_147161.4(ACOT11):c.1043G>A (p.Arg348Gln) | not specified [RCV004427170] | uncertain significance | 1 | 54602682 | 54602682 | Human | | name |
| 405713559 | CV3295280 | single nucleotide variant | NM_147161.4(ACOT11):c.1145G>C (p.Ser382Thr) | not specified [RCV004427175] | uncertain significance | 1 | 54603930 | 54603930 | Human | | name |
| 405713574 | CV3295282 | single nucleotide variant | NM_147161.4(ACOT11):c.1150C>G (p.Gln384Glu) | not specified [RCV004427177] | uncertain significance | 1 | 54603935 | 54603935 | Human | | name |
| 405713613 | CV3295287 | single nucleotide variant | NM_147161.4(ACOT11):c.1380G>T (p.Glu460Asp) | not specified [RCV004427182] | uncertain significance | 1 | 54607143 | 54607143 | Human | | name |
| 405713648 | CV3295292 | single nucleotide variant | NM_147161.4(ACOT11):c.1465G>A (p.Val489Met) | not specified [RCV004427187] | uncertain significance | 1 | 54607228 | 54607228 | Human | | name |
| 405713706 | CV3295301 | single nucleotide variant | NM_147161.4(ACOT11):c.1520C>T (p.Ala507Val) | not specified [RCV004427196] | uncertain significance | 1 | 54607959 | 54607959 | Human | | name |
| 405713782 | CV3295312 | single nucleotide variant | NM_147161.4(ACOT11):c.1556C>T (p.Thr519Met) | not specified [RCV004427207] | uncertain significance | 1 | 54607995 | 54607995 | Human | | name |
| 405714552 | CV3295422 | single nucleotide variant | NM_130767.3(ACOT12):c.1324A>G (p.Ile442Val) | not specified [RCV004427317] | likely benign | 5 | 81332544 | 81332544 | Human | | name |
| 405714774 | CV3295454 | single nucleotide variant | NM_130767.3(ACOT12):c.1531A>T (p.Asn511Tyr) | not specified [RCV004427349] | uncertain significance | 5 | 81330531 | 81330531 | Human | | name |
| 405714802 | CV3295458 | single nucleotide variant | NM_130767.3(ACOT12):c.1661C>T (p.Thr554Ile) | not specified [RCV004427353] | likely benign | 5 | 81330401 | 81330401 | Human | | name |
| 407488250 | CV3421513 | single nucleotide variant | NM_147161.4(ACOT11):c.1027G>A (p.Gly343Ser) | not specified [RCV004603942] | uncertain significance | 1 | 54601411 | 54601411 | Human | | name |
| 407488368 | CV3421534 | single nucleotide variant | NM_130767.3(ACOT12):c.1072G>T (p.Ala358Ser) | not specified [RCV004603962] | uncertain significance | 5 | 81342728 | 81342728 | Human | | name |
| 407488485 | CV3421556 | single nucleotide variant | NM_130767.3(ACOT12):c.1453T>C (p.Tyr485His) | not specified [RCV004603982] | uncertain significance | 5 | 81330879 | 81330879 | Human | | name |
| 597719073 | CV3643032 | single nucleotide variant | NM_130767.3(ACOT12):c.1249G>T (p.Asp417Tyr) | not specified [RCV004887583] | uncertain significance | 5 | 81335781 | 81335781 | Human | | name |
| 597719082 | CV3643040 | single nucleotide variant | NM_130767.3(ACOT12):c.1367C>T (p.Ser456Leu) | not specified [RCV004887584] | uncertain significance | 5 | 81332501 | 81332501 | Human | | name |
| 597719092 | CV3643047 | single nucleotide variant | NM_130767.3(ACOT12):c.1123G>A (p.Glu375Lys) | not specified [RCV004887585] | uncertain significance | 5 | 81342677 | 81342677 | Human | | name |
| 597718986 | CV3646831 | single nucleotide variant | NM_147161.4(ACOT11):c.1369C>T (p.Arg457Trp) | not specified [RCV004887572] | uncertain significance | 1 | 54605208 | 54605208 | Human | | name |
| 597719004 | CV3646845 | single nucleotide variant | NM_147161.4(ACOT11):c.1040G>A (p.Arg347Gln) | not specified [RCV004887574] | uncertain significance | 1 | 54602679 | 54602679 | Human | | name |
| 597719017 | CV3646851 | single nucleotide variant | NM_147161.4(ACOT11):c.1340G>A (p.Arg447His) | not specified [RCV004887576] | uncertain significance | 1 | 54605179 | 54605179 | Human | | name |
| 597719025 | CV3646857 | single nucleotide variant | NM_147161.4(ACOT11):c.1282A>G (p.Met428Val) | not specified [RCV004887577] | uncertain significance | 1 | 54605121 | 54605121 | Human | | name |
| 597719040 | CV3646876 | single nucleotide variant | NM_147161.4(ACOT11):c.1331C>T (p.Ser444Leu) | not specified [RCV004887579] | uncertain significance | 1 | 54605170 | 54605170 | Human | | name |
| 597719048 | CV3646882 | single nucleotide variant | NM_130767.3(ACOT12):c.1025A>C (p.His342Pro) | not specified [RCV004887580] | uncertain significance | 5 | 81343837 | 81343837 | Human | | name |
| 597719055 | CV3646889 | single nucleotide variant | NM_130767.3(ACOT12):c.1238G>A (p.Arg413Gln) | not specified [RCV004887581] | uncertain significance | 5 | 81335792 | 81335792 | Human | | name |
| 597719065 | CV3646898 | single nucleotide variant | NM_130767.3(ACOT12):c.1436T>A (p.Val479Asp) | not specified [RCV004887582] | uncertain significance | 5 | 81330896 | 81330896 | Human | | name |
| 598276753 | CV3949411 | single nucleotide variant | NM_147161.4(ACOT11):c.1133C>T (p.Pro378Leu) | not specified [RCV005305887] | uncertain significance | 1 | 54603918 | 54603918 | Human | | name |
| 598276761 | CV3949422 | single nucleotide variant | NM_147161.4(ACOT11):c.1339C>T (p.Arg447Cys) | not specified [RCV005305895] | uncertain significance | 1 | 54605178 | 54605178 | Human | | name |
| 598276768 | CV3949432 | single nucleotide variant | NM_147161.4(ACOT11):c.1145G>A (p.Ser382Asn) | not specified [RCV005305902] | uncertain significance | 1 | 54603930 | 54603930 | Human | | name |
| 598161406 | CV3949498 | single nucleotide variant | NM_130767.3(ACOT12):c.1337A>T (p.Asp446Val) | not specified [RCV005307001] | uncertain significance | 5 | 81332531 | 81332531 | Human | | name |
| 8631724 | CV86930 | single nucleotide variant | NM_130767.2(ACOT12):c.1343C>T (p.Pro448Leu) | Malignant melanoma [RCV000067021] | not provided | 5 | 81332525 | 81332525 | Human | | name |