ClinVar Miner

List of variants in gene ALDH7A1 studied for Pyridoxine-dependent epilepsy

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Gene type:
ClinVar version:
Total variants: 963
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1317+28G>A rs2306617 0.71415
NM_001182.5(ALDH7A1):c.*807C>G rs1807 0.60056
NM_001182.5(ALDH7A1):c.*2499G>A rs7715516 0.52610
NM_001182.5(ALDH7A1):c.*1749G>T rs744722 0.43161
NM_001182.5(ALDH7A1):c.*1748T>A rs744721 0.43127
NM_001182.5(ALDH7A1):c.*68A>G rs2775 0.42285
NM_001182.5(ALDH7A1):c.*726C>T rs1060857 0.37480
NM_001182.4(ALDH7A1):c.-132A>C rs900641 0.24797
NM_001182.4(ALDH7A1):c.-151C>T rs900640 0.11028
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001182.4(ALDH7A1):c.-60G>A rs144272515 0.03685
NM_001182.5(ALDH7A1):c.518-12T>G rs79544459 0.03492
NM_001182.5(ALDH7A1):c.*2254T>A rs76249070 0.02408
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001182.5(ALDH7A1):c.*1804C>T rs744723 0.01339
NM_001182.5(ALDH7A1):c.*1672A>G rs78029541 0.01247
NM_001182.5(ALDH7A1):c.*1741T>A rs744720 0.01233
NM_001182.5(ALDH7A1):c.*1368A>T rs115645125 0.01210
NM_001182.5(ALDH7A1):c.*2512G>A rs76363408 0.00874
NM_001182.5(ALDH7A1):c.*1446G>A rs114580465 0.00797
NM_001182.5(ALDH7A1):c.*2575T>C rs114287342 0.00792
NM_001182.5(ALDH7A1):c.*2423C>T rs114575585 0.00777
NM_001182.4(ALDH7A1):c.-117G>T rs146562077 0.00663
NM_001182.5(ALDH7A1):c.*2387A>G rs116566135 0.00607
NM_001182.5(ALDH7A1):c.1094-20C>G rs113775968 0.00586
NM_001182.5(ALDH7A1):c.*325A>G rs55923017 0.00504
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.5(ALDH7A1):c.*690T>C rs139905907 0.00352
NM_001182.5(ALDH7A1):c.*1730C>T rs185960737 0.00328
NC_000005.10:g.126595278A>C rs563928852 0.00308
NM_001182.4(ALDH7A1):c.-34G>C rs140627539 0.00261
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001182.5(ALDH7A1):c.*2126G>A rs115168957 0.00188
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248 0.00118
NM_001182.5(ALDH7A1):c.*1288A>G rs190996922 0.00103
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) rs146438406 0.00095
NM_001182.5(ALDH7A1):c.*2549G>C rs556404419 0.00067
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_001182.5(ALDH7A1):c.*2914A>T rs192950824 0.00054
NM_001182.5(ALDH7A1):c.*1693A>C rs557939339 0.00047
NM_001182.5(ALDH7A1):c.774-18G>A rs185333013 0.00043
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_001182.5(ALDH7A1):c.*2492C>T rs768166252 0.00030
NM_001182.5(ALDH7A1):c.*1484T>C rs886059841 0.00029
NM_001182.5(ALDH7A1):c.246+17_246+19dup rs757765046 0.00029
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00028
NM_001182.5(ALDH7A1):c.*2603G>A rs74415886 0.00025
NM_001182.5(ALDH7A1):c.*1836C>A rs763990036 0.00024
NM_001182.5(ALDH7A1):c.*2568_*2569dup rs771970643 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His) rs759866910 0.00022
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001182.5(ALDH7A1):c.*641G>A rs372065850 0.00019
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly) rs141775154 0.00019
NM_001182.5(ALDH7A1):c.193-20C>T rs199762757 0.00018
NM_001182.5(ALDH7A1):c.246+6A>T rs759910341 0.00018
NM_001182.5(ALDH7A1):c.528T>C (p.His176=) rs757135576 0.00018
NM_001182.5(ALDH7A1):c.*2818T>C rs886059833 0.00016
NM_001182.5(ALDH7A1):c.393+15T>C rs183254966 0.00016
NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile) rs61757685 0.00016
NM_001182.5(ALDH7A1):c.1416-11T>C rs577675361 0.00015
NM_001182.5(ALDH7A1):c.*2494T>C rs986689762 0.00014
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726 0.00014
NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=) rs114516357 0.00014
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) rs369859575 0.00013
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=) rs375030056 0.00010
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001182.5(ALDH7A1):c.774-19C>T rs373058643 0.00010
NM_001182.5(ALDH7A1):c.*2314T>C rs561998848 0.00009
NM_001182.5(ALDH7A1):c.*403C>T rs112493228 0.00009
NM_001182.5(ALDH7A1):c.*2370A>G rs1036910923 0.00008
NM_001182.5(ALDH7A1):c.1201-8T>C rs558579795 0.00008
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020 0.00007
NM_001182.5(ALDH7A1):c.780A>G (p.Ala260=) rs772877760 0.00007
NM_001182.5(ALDH7A1):c.*717G>A rs886059847 0.00006
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457 0.00006
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) rs140947675 0.00006
NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro) rs796052256 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001182.5(ALDH7A1):c.998C>T (p.Ala333Val) rs144625212 0.00006
NM_001182.5(ALDH7A1):c.246+9G>C rs1430553508 0.00005
NM_001182.5(ALDH7A1):c.882G>C (p.Leu294=) rs751053781 0.00005
NM_001182.5(ALDH7A1):c.913+8T>C rs766528289 0.00005
NM_001182.5(ALDH7A1):c.*319T>G rs570223278 0.00004
NM_001182.5(ALDH7A1):c.*5G>A rs759591318 0.00004
NM_001182.5(ALDH7A1):c.*65G>A rs886059848 0.00004
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn) rs141701364 0.00004
NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu) rs138675705 0.00004
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=) rs376004978 0.00004
NM_001182.5(ALDH7A1):c.1201-14T>C rs764812810 0.00004
NM_001182.5(ALDH7A1):c.1210C>T (p.Arg404Cys) rs181287032 0.00004
NM_001182.5(ALDH7A1):c.1415+13C>T rs776975478 0.00004
NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=) rs372488916 0.00004
NM_001182.5(ALDH7A1):c.1506T>C (p.Thr502=) rs565405031 0.00004
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln) rs765562932 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001182.5(ALDH7A1):c.183C>A (p.Gly61=) rs374526203 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.417C>T (p.Ile139=) rs772201739 0.00004
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=) rs757704473 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001182.5(ALDH7A1):c.965C>T (p.Ala322Val) rs777483675 0.00004
NM_001182.5(ALDH7A1):c.*1416A>C rs947195444 0.00003
NM_001182.5(ALDH7A1):c.*1441C>T rs541286622 0.00003
NM_001182.5(ALDH7A1):c.*1475C>T rs1030740620 0.00003
NM_001182.5(ALDH7A1):c.*2365C>T rs886059837 0.00003
NM_001182.5(ALDH7A1):c.*3081C>T rs969756877 0.00003
NM_001182.5(ALDH7A1):c.1073G>T (p.Arg358Leu) rs144671885 0.00003
NM_001182.5(ALDH7A1):c.1257C>T (p.His419=) rs778236831 0.00003
NM_001182.5(ALDH7A1):c.1272A>G (p.Ala424=) rs749889093 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.1317+19C>T rs368215460 0.00003
NM_001182.5(ALDH7A1):c.1318-16A>G rs879606419 0.00003
NM_001182.5(ALDH7A1):c.133C>T (p.Leu45=) rs757162735 0.00003
NM_001182.5(ALDH7A1):c.1405C>T (p.Arg469Cys) rs752523070 0.00003
NM_001182.5(ALDH7A1):c.1489+4C>T rs775065938 0.00003
NM_001182.5(ALDH7A1):c.1490-15T>G rs192673749 0.00003
NM_001182.5(ALDH7A1):c.246+8T>A rs1049927397 0.00003
NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=) rs149228266 0.00003
NM_001182.5(ALDH7A1):c.359C>G (p.Ala120Gly) rs549279821 0.00003
NM_001182.5(ALDH7A1):c.394-15G>A rs766287925 0.00003
NM_001182.5(ALDH7A1):c.517+4A>C rs370875826 0.00003
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475 0.00003
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_001182.5(ALDH7A1):c.597A>G (p.Ala199=) rs745357569 0.00003
NM_001182.5(ALDH7A1):c.650+18T>C rs570318899 0.00003
NM_001182.5(ALDH7A1):c.656G>C (p.Gly219Ala) rs202084501 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001182.5(ALDH7A1):c.705C>G (p.Ala235=) rs908023912 0.00003
NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val) rs767172222 0.00003
NM_001182.5(ALDH7A1):c.871+8T>G rs750152298 0.00003
NM_001182.5(ALDH7A1):c.873G>T (p.Gly291=) rs939560417 0.00003
NM_001182.5(ALDH7A1):c.914-13G>A rs148928130 0.00003
NM_001182.5(ALDH7A1):c.952G>A (p.Ala318Thr) rs936151635 0.00003
NM_001182.4(ALDH7A1):c.-62G>A rs1331630599 0.00002
NM_001182.5(ALDH7A1):c.*2190T>C rs559274917 0.00002
NM_001182.5(ALDH7A1):c.*2967T>C rs1310767295 0.00002
NM_001182.5(ALDH7A1):c.*931A>G rs1411566716 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001182.5(ALDH7A1):c.1039G>A (p.Val347Ile) rs757087792 0.00002
NM_001182.5(ALDH7A1):c.1084C>T (p.Pro362Ser) rs532800318 0.00002
NM_001182.5(ALDH7A1):c.1093+7A>G rs746798021 0.00002
NM_001182.5(ALDH7A1):c.1233G>A (p.Pro411=) rs572831296 0.00002
NM_001182.5(ALDH7A1):c.1262C>T (p.Ala421Val) rs753598402 0.00002
NM_001182.5(ALDH7A1):c.1356A>C (p.Lys452Asn) rs756859037 0.00002
NM_001182.5(ALDH7A1):c.1374C>T (p.Ser458=) rs978958073 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_001182.5(ALDH7A1):c.1442T>C (p.Val481Ala) rs144701796 0.00002
NM_001182.5(ALDH7A1):c.153C>T (p.Asn51=) rs752537865 0.00002
NM_001182.5(ALDH7A1):c.1565+15T>C rs375505703 0.00002
NM_001182.5(ALDH7A1):c.16C>T (p.Arg6Cys) rs781779462 0.00002
NM_001182.5(ALDH7A1):c.19G>T (p.Ala7Ser) rs935322440 0.00002
NM_001182.5(ALDH7A1):c.232G>A (p.Ala78Thr) rs750569691 0.00002
NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter) rs757377110 0.00002
NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu) rs994001880 0.00002
NM_001182.5(ALDH7A1):c.33C>G (p.His11Gln) rs753485531 0.00002
NM_001182.5(ALDH7A1):c.355G>A (p.Asp119Asn) rs1212969829 0.00002
NM_001182.5(ALDH7A1):c.35C>T (p.Ala12Val) rs1465540247 0.00002
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241 0.00002
NM_001182.5(ALDH7A1):c.576G>A (p.Thr192=) rs889358689 0.00002
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425 0.00002
NM_001182.5(ALDH7A1):c.717G>A (p.Glu239=) rs768018240 0.00002
NM_001182.5(ALDH7A1):c.826A>G (p.Thr276Ala) rs796052260 0.00002
NM_001182.5(ALDH7A1):c.852G>C (p.Leu284=) rs747107627 0.00002
NM_001182.5(ALDH7A1):c.872-14T>G rs779537981 0.00002
NM_001182.5(ALDH7A1):c.872-19A>G rs747071451 0.00002
NM_001182.5(ALDH7A1):c.930C>T (p.Asp310=) rs202069068 0.00002
NM_001182.5(ALDH7A1):c.*1529A>G rs886059839 0.00001
NM_001182.5(ALDH7A1):c.*2498C>T rs866715101 0.00001
NM_001182.5(ALDH7A1):c.*3124A>G rs572425402 0.00001
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter) rs1015686016 0.00001
NM_001182.5(ALDH7A1):c.1008+11C>T rs367574304 0.00001
NM_001182.5(ALDH7A1):c.1008+1G>A rs1482167835 0.00001
NM_001182.5(ALDH7A1):c.1010T>G (p.Phe337Cys) rs747834606 0.00001
NM_001182.5(ALDH7A1):c.1015C>T (p.His339Tyr) rs768210262 0.00001
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr) rs553114356 0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1088G>A (p.Trp363Ter) rs781254582 0.00001
NM_001182.5(ALDH7A1):c.1093C>T (p.Pro365Ser) rs370869432 0.00001
NM_001182.5(ALDH7A1):c.1094-14T>G rs1057521816 0.00001
NM_001182.5(ALDH7A1):c.1094-4C>T rs977039138 0.00001
NM_001182.5(ALDH7A1):c.1106A>G (p.Tyr369Cys) rs1210400291 0.00001
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_001182.5(ALDH7A1):c.111C>T (p.Pro37=) rs372328305 0.00001
NM_001182.5(ALDH7A1):c.1139T>C (p.Met380Thr) rs1342849296 0.00001
NM_001182.5(ALDH7A1):c.1144C>T (p.Leu382Phe) rs894016061 0.00001
NM_001182.5(ALDH7A1):c.114G>A (p.Gln38=) rs1045930852 0.00001
NM_001182.5(ALDH7A1):c.1156G>A (p.Glu386Lys) rs756568507 0.00001
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) rs935431600 0.00001
NM_001182.5(ALDH7A1):c.118G>A (p.Ala40Thr) rs1457538662 0.00001
NM_001182.5(ALDH7A1):c.119C>T (p.Ala40Val) rs745385277 0.00001
NM_001182.5(ALDH7A1):c.1200+1G>T rs1217642695 0.00001
NM_001182.5(ALDH7A1):c.1201-5A>G rs753508557 0.00001
NM_001182.5(ALDH7A1):c.1211G>A (p.Arg404His) rs771975420 0.00001
NM_001182.5(ALDH7A1):c.1225G>T (p.Val409Leu) rs796052263 0.00001
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639 0.00001
NM_001182.5(ALDH7A1):c.1244C>T (p.Thr415Ile) rs751898560 0.00001
NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr) rs1463447902 0.00001
NM_001182.5(ALDH7A1):c.127A>C (p.Lys43Gln) rs1751698183 0.00001
NM_001182.5(ALDH7A1):c.1293G>A (p.Pro431=) rs538504116 0.00001
NM_001182.5(ALDH7A1):c.1320T>C (p.Asn440=) rs755365818 0.00001
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) rs1057518529 0.00001
NM_001182.5(ALDH7A1):c.139C>T (p.Leu47Phe) rs144684547 0.00001
NM_001182.5(ALDH7A1):c.13C>T (p.Pro5Ser) rs745921838 0.00001
NM_001182.5(ALDH7A1):c.1415+15A>G rs370757950 0.00001
NM_001182.5(ALDH7A1):c.1416-16C>T rs1206254811 0.00001
NM_001182.5(ALDH7A1):c.1416-5C>T rs754803091 0.00001
NM_001182.5(ALDH7A1):c.1466G>A (p.Gly489Glu) rs1423535503 0.00001
NM_001182.5(ALDH7A1):c.1477G>T (p.Gly493Ter) rs767756650 0.00001
NM_001182.5(ALDH7A1):c.1481G>T (p.Gly494Val) rs763418390 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001182.5(ALDH7A1):c.14C>T (p.Pro5Leu) rs977914775 0.00001
NM_001182.5(ALDH7A1):c.1515C>T (p.Gly505=) rs765576421 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.1549A>G (p.Met517Val) rs1749785606 0.00001
NM_001182.5(ALDH7A1):c.1564T>A (p.Cys522Ser) rs745592760 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195 0.00001
NM_001182.5(ALDH7A1):c.1566-4C>G rs376308594 0.00001
NM_001182.5(ALDH7A1):c.1579A>G (p.Ser527Gly) rs761013423 0.00001
NM_001182.5(ALDH7A1):c.1608C>G (p.Ile536Met) rs763737676 0.00001
NM_001182.5(ALDH7A1):c.17G>C (p.Arg6Pro) rs966540476 0.00001
NM_001182.5(ALDH7A1):c.192+11G>C rs529506268 0.00001
NM_001182.5(ALDH7A1):c.193-12T>G rs770632526 0.00001
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) rs1007871645 0.00001
NM_001182.5(ALDH7A1):c.235A>G (p.Arg79Gly) rs794727259 0.00001
NM_001182.5(ALDH7A1):c.236G>A (p.Arg79Lys) rs781361567 0.00001
NM_001182.5(ALDH7A1):c.242G>A (p.Arg81Gln) rs1751621256 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.259G>C (p.Asp87His) rs1197981680 0.00001
NM_001182.5(ALDH7A1):c.263A>T (p.Tyr88Phe) rs376294954 0.00001
NM_001182.5(ALDH7A1):c.274G>C (p.Val92Leu) rs945175192 0.00001
NM_001182.5(ALDH7A1):c.283G>A (p.Ala95Thr) rs551163406 0.00001
NM_001182.5(ALDH7A1):c.309A>C (p.Ala103=) rs1751590460 0.00001
NM_001182.5(ALDH7A1):c.312+15T>C rs1386867089 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001182.5(ALDH7A1):c.312+6T>G rs761501683 0.00001
NM_001182.5(ALDH7A1):c.322C>T (p.Pro108Ser) rs1369193908 0.00001
NM_001182.5(ALDH7A1):c.393+12T>C rs1057522818 0.00001
NM_001182.5(ALDH7A1):c.394-5T>C rs1299570489 0.00001
NM_001182.5(ALDH7A1):c.432G>A (p.Val144=) rs768899130 0.00001
NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs) rs767805540 0.00001
NM_001182.5(ALDH7A1):c.44C>T (p.Thr15Ile) rs1410992204 0.00001
NM_001182.5(ALDH7A1):c.450T>C (p.Tyr150=) rs375095250 0.00001
NM_001182.5(ALDH7A1):c.491T>C (p.Ile164Thr) rs747873042 0.00001
NM_001182.5(ALDH7A1):c.500C>T (p.Pro167Leu) rs1276294117 0.00001
NM_001182.5(ALDH7A1):c.517+8A>G rs925234919 0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585 0.00001
NM_001182.5(ALDH7A1):c.531A>G (p.Ala177=) rs1418827153 0.00001
NM_001182.5(ALDH7A1):c.542A>G (p.Gln181Arg) rs796052257 0.00001
NM_001182.5(ALDH7A1):c.573C>T (p.Ile191=) rs1554100447 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr) rs773503933 0.00001
NM_001182.5(ALDH7A1):c.606T>C (p.Gly202=) rs1438903755 0.00001
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752 0.00001
NM_001182.5(ALDH7A1):c.621C>T (p.Ile207=) rs758236544 0.00001
NM_001182.5(ALDH7A1):c.650+5G>C rs201040092 0.00001
NM_001182.5(ALDH7A1):c.651-10C>A rs1750933772 0.00001
NM_001182.5(ALDH7A1):c.651-19T>A rs1057521334 0.00001
NM_001182.5(ALDH7A1):c.651-3_651-1del rs1337742915 0.00001
NM_001182.5(ALDH7A1):c.651-5T>C rs770931075 0.00001
NM_001182.5(ALDH7A1):c.67A>G (p.Ser23Gly) rs796052266 0.00001
NM_001182.5(ALDH7A1):c.683T>C (p.Val228Ala) rs1162631387 0.00001
NM_001182.5(ALDH7A1):c.696-3T>C rs749516893 0.00001
NM_001182.5(ALDH7A1):c.696-6T>G rs372348364 0.00001
NM_001182.5(ALDH7A1):c.697A>G (p.Ile233Val) rs1750746231 0.00001
NM_001182.5(ALDH7A1):c.722A>G (p.Asn241Ser) rs1428539981 0.00001
NM_001182.5(ALDH7A1):c.73C>T (p.Pro25Ser) rs762624752 0.00001
NM_001182.5(ALDH7A1):c.770T>C (p.Ile257Thr) rs776202861 0.00001
NM_001182.5(ALDH7A1):c.774-12G>T rs1750662606 0.00001
NM_001182.5(ALDH7A1):c.77C>T (p.Ala26Val) rs1751701268 0.00001
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610 0.00001
NM_001182.5(ALDH7A1):c.7C>T (p.Arg3Cys) rs796052265 0.00001
NM_001182.5(ALDH7A1):c.807G>A (p.Leu269=) rs774216010 0.00001
NM_001182.5(ALDH7A1):c.811T>A (p.Ser271Thr) rs1299466765 0.00001
NM_001182.5(ALDH7A1):c.843G>C (p.Gln281His) rs771054683 0.00001
NM_001182.5(ALDH7A1):c.853A>G (p.Met285Val) rs778146305 0.00001
NM_001182.5(ALDH7A1):c.85A>G (p.Met29Val) rs765544488 0.00001
NM_001182.5(ALDH7A1):c.860A>G (p.Gln287Arg) rs796052261 0.00001
NM_001182.5(ALDH7A1):c.871+7G>A rs201353024 0.00001
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) rs1064794240 0.00001
NM_001182.5(ALDH7A1):c.903T>C (p.Asn301=) rs1355403944 0.00001
NM_001182.5(ALDH7A1):c.907A>G (p.Ile303Val) rs765153843 0.00001
NM_001182.5(ALDH7A1):c.913+11C>T rs760906798 0.00001
NM_001182.5(ALDH7A1):c.913+5G>A rs759331064 0.00001
NM_001182.5(ALDH7A1):c.914-4T>G rs771187992 0.00001
NM_001182.5(ALDH7A1):c.950C>T (p.Ser317Leu) rs148052962 0.00001
NM_001182.5(ALDH7A1):c.984del (p.Arg329fs) rs1275490470 0.00001
NM_001182.5(ALDH7A1):c.999G>A (p.Ala333=) rs563675719 0.00001
NC_000005.10:g.(?_126575400)_(126575484_?)del
NC_000005.10:g.(?_126575400)_(126575484_?)dup
NC_000005.10:g.(?_126582831)_(126584032_?)del
NC_000005.9:g.(?_125880657)_(125882101_?)del
NC_000005.9:g.(?_125880657)_(125891727_?)del
NC_000005.9:g.(?_125880657)_(125896836_?)del
NC_000005.9:g.(?_125880657)_(125930890_?)del
NC_000005.9:g.(?_125880657)_(125930890_?)dup
NC_000005.9:g.(?_125881996)_(125882111_?)del
NC_000005.9:g.(?_125881996)_(125882111_?)dup
NC_000005.9:g.(?_125885611)_(125930890_?)dup
NC_000005.9:g.(?_125889959)_(125891727_?)del
NC_000005.9:g.(?_125889959)_(125896836_?)del
NC_000005.9:g.(?_125896755)_(125896836_?)del
NC_000005.9:g.(?_125904022)_(125905143_?)del
NC_000005.9:g.(?_125911092)_(125912923_?)del
NC_000005.9:g.(?_125912751)_(125912923_?)del
NC_000005.9:g.(?_125928336)_(125930890_?)del
NC_000005.9:g.(?_125929344)_(125930707_?)del
NC_000005.9:g.(?_125930679)_(125930890_?)del
NM_001182.4(ALDH7A1):c.1493_1495delGAG rs796052268
NM_001182.5(ALDH7A1):c.*1287G>A rs1048144152
NM_001182.5(ALDH7A1):c.*1290C>T rs1749687779
NM_001182.5(ALDH7A1):c.*1492G>A rs1371020118
NM_001182.5(ALDH7A1):c.*1496T>A rs886059840
NM_001182.5(ALDH7A1):c.*156G>A rs1749730625
NM_001182.5(ALDH7A1):c.*1702del rs5871218
NM_001182.5(ALDH7A1):c.*1748_*1749delinsAT rs386692155
NM_001182.5(ALDH7A1):c.*1839G>A rs886059838
NM_001182.5(ALDH7A1):c.*1844A>T rs1749665523
NM_001182.5(ALDH7A1):c.*21C>T rs868005043
NM_001182.5(ALDH7A1):c.*2409A>C rs776633516
NM_001182.5(ALDH7A1):c.*2464dup rs200155555
NM_001182.5(ALDH7A1):c.*2564G>A rs1749636668
NM_001182.5(ALDH7A1):c.*2584C>A rs886059836
NM_001182.5(ALDH7A1):c.*2700A>T rs886059835
NM_001182.5(ALDH7A1):c.*2781C>T rs886059834
NM_001182.5(ALDH7A1):c.*2820dup rs886059832
NM_001182.5(ALDH7A1):c.*2996_*2997dup rs5871217
NM_001182.5(ALDH7A1):c.*2997dup rs5871217
NM_001182.5(ALDH7A1):c.*3022T>C rs2035471
NM_001182.5(ALDH7A1):c.*352G>A rs1749722984
NM_001182.5(ALDH7A1):c.*404G>A rs533678440
NM_001182.5(ALDH7A1):c.*409del rs556732113
NM_001182.5(ALDH7A1):c.*704G>A rs1749710686
NM_001182.5(ALDH7A1):c.*818G>A rs1138005
NM_001182.5(ALDH7A1):c.*898_*900del rs543290589
NM_001182.5(ALDH7A1):c.1008+17A>G
NM_001182.5(ALDH7A1):c.1008+20C>T rs1243510576
NM_001182.5(ALDH7A1):c.1008+4A>G rs753819188
NM_001182.5(ALDH7A1):c.1008+6T>A
NM_001182.5(ALDH7A1):c.1009-10T>C rs2112762955
NM_001182.5(ALDH7A1):c.1009-14C>T rs1057520220
NM_001182.5(ALDH7A1):c.1009-16A>G
NM_001182.5(ALDH7A1):c.1009-18A>G
NM_001182.5(ALDH7A1):c.1009-1G>A
NM_001182.5(ALDH7A1):c.1009-7C>T
NM_001182.5(ALDH7A1):c.1009-8del
NM_001182.5(ALDH7A1):c.1009-8dup
NM_001182.5(ALDH7A1):c.1009-9T>C
NM_001182.5(ALDH7A1):c.1023C>T (p.Ser341=) rs750258751
NM_001182.5(ALDH7A1):c.1027C>T (p.His343Tyr)
NM_001182.5(ALDH7A1):c.1029T>C (p.His343=) rs1581364693
NM_001182.5(ALDH7A1):c.1035G>A (p.Glu345=)
NM_001182.5(ALDH7A1):c.1047A>G (p.Arg349=) rs1750181426
NM_001182.5(ALDH7A1):c.1051A>G (p.Lys351Glu)
NM_001182.5(ALDH7A1):c.1056G>T (p.Lys352Asn) rs1750181159
NM_001182.5(ALDH7A1):c.1061A>C (p.Tyr354Ser)
NM_001182.5(ALDH7A1):c.1072C>T (p.Arg358Ter) rs768233031
NM_001182.5(ALDH7A1):c.1073G>A (p.Arg358Gln) rs144671885
NM_001182.5(ALDH7A1):c.1080G>A (p.Gly360=)
NM_001182.5(ALDH7A1):c.1083C>T (p.Asn361=)
NM_001182.5(ALDH7A1):c.1084C>A (p.Pro362Thr) rs532800318
NM_001182.5(ALDH7A1):c.1086A>G (p.Pro362=)
NM_001182.5(ALDH7A1):c.1092dup (p.Pro365_Asn366insTer)
NM_001182.5(ALDH7A1):c.1093+13T>G
NM_001182.5(ALDH7A1):c.1093+14T>G
NM_001182.5(ALDH7A1):c.1093+14_1093+16del
NM_001182.5(ALDH7A1):c.1093+19T>C
NM_001182.5(ALDH7A1):c.1093+1G>A rs794727058
NM_001182.5(ALDH7A1):c.1093+2T>C
NM_001182.5(ALDH7A1):c.1094-11TC[3] rs965974461
NM_001182.5(ALDH7A1):c.1094-13T>C
NM_001182.5(ALDH7A1):c.1094-16C>T
NM_001182.5(ALDH7A1):c.1094-18T>G
NM_001182.5(ALDH7A1):c.1094-20C>A
NM_001182.5(ALDH7A1):c.1094-20C>T
NM_001182.5(ALDH7A1):c.1094-5del
NM_001182.5(ALDH7A1):c.1094-6C>T rs1222190381
NM_001182.5(ALDH7A1):c.1094-9T>G
NM_001182.5(ALDH7A1):c.1098T>G (p.Asn366Lys) rs1018483380
NM_001182.5(ALDH7A1):c.10C>T (p.Leu4Phe) rs1211626533
NM_001182.5(ALDH7A1):c.1110G>T (p.Gly370=)
NM_001182.5(ALDH7A1):c.1112C>T (p.Pro371Leu)
NM_001182.5(ALDH7A1):c.1124A>G (p.Lys375Arg) rs1298566677
NM_001182.5(ALDH7A1):c.1126C>A (p.Gln376Lys) rs564187364
NM_001182.5(ALDH7A1):c.1129G>A (p.Ala377Thr) rs750205677
NM_001182.5(ALDH7A1):c.112C>T (p.Gln38Ter)
NM_001182.5(ALDH7A1):c.1131A>C (p.Ala377=)
NM_001182.5(ALDH7A1):c.1134G>A (p.Val378=)
NM_001182.5(ALDH7A1):c.1135A>G (p.Ser379Gly)
NM_001182.5(ALDH7A1):c.1138A>G (p.Met380Val) rs1750106169
NM_001182.5(ALDH7A1):c.1152A>G (p.Ala384=)
NM_001182.5(ALDH7A1):c.1153G>C (p.Val385Leu) rs2112759864
NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly) rs1561651205
NM_001182.5(ALDH7A1):c.1170A>G (p.Lys390=)
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
NM_001182.5(ALDH7A1):c.1175del (p.Gly392fs)
NM_001182.5(ALDH7A1):c.117T>C (p.Tyr39=)
NM_001182.5(ALDH7A1):c.1185G>A (p.Val395=)
NM_001182.5(ALDH7A1):c.1188C>A (p.Val396=)
NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1192G>C (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1192G>T (p.Gly398Trp)
NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) rs864622557
NM_001182.5(ALDH7A1):c.1194G>A (p.Gly398=)
NM_001182.5(ALDH7A1):c.1196G>T (p.Gly399Val) rs1750101998
NM_001182.5(ALDH7A1):c.119C>G (p.Ala40Gly) rs745385277
NM_001182.5(ALDH7A1):c.1200+10G>T
NM_001182.5(ALDH7A1):c.1200+11C>T
NM_001182.5(ALDH7A1):c.1200+12T>G rs2112759721
NM_001182.5(ALDH7A1):c.1200+15G>A
NM_001182.5(ALDH7A1):c.1200+17G>A
NM_001182.5(ALDH7A1):c.1200+17G>C
NM_001182.5(ALDH7A1):c.1200+1G>C
NM_001182.5(ALDH7A1):c.1200+20C>G
NM_001182.5(ALDH7A1):c.1200+6G>A rs897504760
NM_001182.5(ALDH7A1):c.1200+9T>C
NM_001182.5(ALDH7A1):c.1201-11C>A
NM_001182.5(ALDH7A1):c.1201-12T>C
NM_001182.5(ALDH7A1):c.1201-5A>C
NM_001182.5(ALDH7A1):c.1201-5A>T
NM_001182.5(ALDH7A1):c.1201G>A (p.Val401Ile)
NM_001182.5(ALDH7A1):c.1212C>T (p.Arg404=)
NM_001182.5(ALDH7A1):c.1216G>A (p.Gly406Arg)
NM_001182.5(ALDH7A1):c.1224T>C (p.Tyr408=) rs121912710
NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter) rs121912710
NM_001182.5(ALDH7A1):c.1233G>T (p.Pro411=)
NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile) rs1471604421
NM_001182.5(ALDH7A1):c.1237A>G (p.Ile413Val)
NM_001182.5(ALDH7A1):c.1240G>A (p.Val414Met) rs1750021508
NM_001182.5(ALDH7A1):c.1241dup (p.Thr415fs)
NM_001182.5(ALDH7A1):c.1249C>T (p.Leu417Phe) rs1318876453
NM_001182.5(ALDH7A1):c.1258G>T (p.Asp420Tyr) rs758810390
NM_001182.5(ALDH7A1):c.1260T>C (p.Asp420=)
NM_001182.5(ALDH7A1):c.1263G>T (p.Ala421=)
NM_001182.5(ALDH7A1):c.1265C>G (p.Ser422Cys) rs1253321873
NM_001182.5(ALDH7A1):c.126G>T (p.Leu42=)
NM_001182.5(ALDH7A1):c.1272A>C (p.Ala424=)
NM_001182.5(ALDH7A1):c.1278A>G (p.Thr426=)
NM_001182.5(ALDH7A1):c.1280A>G (p.Glu427Gly) rs1311982393
NM_001182.5(ALDH7A1):c.1281G>A (p.Glu427=)
NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp) rs796052271
NM_001182.5(ALDH7A1):c.1284T>C (p.Thr428=)
NM_001182.5(ALDH7A1):c.1289C>A (p.Ala430Asp)
NM_001182.5(ALDH7A1):c.1290T>A (p.Ala430=)
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001182.5(ALDH7A1):c.1302T>C (p.Tyr434=)
NM_001182.5(ALDH7A1):c.130G>T (p.Glu44Ter) rs2112820022
NM_001182.5(ALDH7A1):c.1310A>C (p.Lys437Thr)
NM_001182.5(ALDH7A1):c.1311A>G (p.Lys437=) rs2112755832
NM_001182.5(ALDH7A1):c.1314C>T (p.Phe438=)
NM_001182.5(ALDH7A1):c.1317+11A>G rs1361823176
NM_001182.5(ALDH7A1):c.1317+16G>A
NM_001182.5(ALDH7A1):c.1317+20G>A rs17597559
NM_001182.5(ALDH7A1):c.1317+20G>C rs17597559
NM_001182.5(ALDH7A1):c.1317+6A>G rs1750016047
NM_001182.5(ALDH7A1):c.1317+9G>T
NM_001182.5(ALDH7A1):c.1318-13TC[2]
NM_001182.5(ALDH7A1):c.1318-18del
NM_001182.5(ALDH7A1):c.1318-19C>T
NM_001182.5(ALDH7A1):c.1318-1G>C rs1258470290
NM_001182.5(ALDH7A1):c.1318-7C>T
NM_001182.5(ALDH7A1):c.1318-8C>T
NM_001182.5(ALDH7A1):c.1327G>T (p.Glu443Ter)
NM_001182.5(ALDH7A1):c.1338A>C (p.Ala446=) rs2112752997
NM_001182.5(ALDH7A1):c.1338A>G (p.Ala446=)
NM_001182.5(ALDH7A1):c.1344T>A (p.Asn448Lys)
NM_001182.5(ALDH7A1):c.1347T>A (p.Asn449Lys) rs1342037208
NM_001182.5(ALDH7A1):c.1347T>C (p.Asn449=) rs1342037208
NM_001182.5(ALDH7A1):c.1348G>T (p.Glu450Ter) rs1749947130
NM_001182.5(ALDH7A1):c.1358A>G (p.Gln453Arg)
NM_001182.5(ALDH7A1):c.1359G>A (p.Gln453=)
NM_001182.5(ALDH7A1):c.135G>A (p.Leu45=)
NM_001182.5(ALDH7A1):c.1362A>G (p.Gly454=) rs1749946158
NM_001182.5(ALDH7A1):c.1368A>G (p.Ser456=)
NM_001182.5(ALDH7A1):c.1370G>T (p.Ser457Ile)
NM_001182.5(ALDH7A1):c.1371T>C (p.Ser457=)
NM_001182.5(ALDH7A1):c.1373G>A (p.Ser458Asn)
NM_001182.5(ALDH7A1):c.1375A>G (p.Ile459Val) rs186558364
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1377C>G (p.Ile459Met)
NM_001182.5(ALDH7A1):c.1380T>C (p.Phe460=)
NM_001182.5(ALDH7A1):c.1384A>G (p.Lys462Glu) rs375090702
NM_001182.5(ALDH7A1):c.138G>A (p.Gly46=) rs770975428
NM_001182.5(ALDH7A1):c.138G>T (p.Gly46=)
NM_001182.5(ALDH7A1):c.1392G>C (p.Leu464=)
NM_001182.5(ALDH7A1):c.1394G>A (p.Gly465Asp) rs947628303
NM_001182.5(ALDH7A1):c.1408T>G (p.Trp470Gly)
NM_001182.5(ALDH7A1):c.1411C>T (p.Leu471Phe) rs989375168
NM_001182.5(ALDH7A1):c.1412_1415+9delinsGTTGGG rs1749943369
NM_001182.5(ALDH7A1):c.1415+10dup
NM_001182.5(ALDH7A1):c.1415+11G>A
NM_001182.5(ALDH7A1):c.1415+13_1415+14del
NM_001182.5(ALDH7A1):c.1415+15A>C
NM_001182.5(ALDH7A1):c.1415+19del
NM_001182.5(ALDH7A1):c.1415+1G>T
NM_001182.5(ALDH7A1):c.1415+8T>C rs1182943543
NM_001182.5(ALDH7A1):c.1416-12C>T rs905495939
NM_001182.5(ALDH7A1):c.1416-13C>A
NM_001182.5(ALDH7A1):c.1416-14C>T
NM_001182.5(ALDH7A1):c.1416-19T>C
NM_001182.5(ALDH7A1):c.1416-20A>G
NM_001182.5(ALDH7A1):c.1417C>A (p.Pro473Thr) rs2112752456
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1426T>G (p.Ser476Ala)
NM_001182.5(ALDH7A1):c.1428A>G (p.Ser476=)
NM_001182.5(ALDH7A1):c.1429G>C (p.Asp477His) rs1749935128
NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)
NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)
NM_001182.5(ALDH7A1):c.1437C>T (p.Gly479=)
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.5(ALDH7A1):c.1443A>G (p.Val481=) rs2112752412
NM_001182.5(ALDH7A1):c.1447G>A (p.Val483Ile)
NM_001182.5(ALDH7A1):c.1451A>G (p.Asn484Ser) rs1561648688
NM_001182.5(ALDH7A1):c.1452C>T (p.Asn484=)
NM_001182.5(ALDH7A1):c.1461A>C (p.Thr487=)
NM_001182.5(ALDH7A1):c.1464T>C (p.Ser488=)
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs) rs796052267
NM_001182.5(ALDH7A1):c.1470T>C (p.Ala490=) rs1057520651
NM_001182.5(ALDH7A1):c.1472A>T (p.Glu491Val) rs2112752333
NM_001182.5(ALDH7A1):c.1474A>G (p.Ile492Val) rs1173360765
NM_001182.5(ALDH7A1):c.1480G>A (p.Gly494Ser) rs2112752319
NM_001182.5(ALDH7A1):c.1481G>C (p.Gly494Ala)
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001182.5(ALDH7A1):c.1485C>A (p.Ala495=)
NM_001182.5(ALDH7A1):c.1489+10G>T rs2112752276
NM_001182.5(ALDH7A1):c.1489+12A>T
NM_001182.5(ALDH7A1):c.1489+15A>G
NM_001182.5(ALDH7A1):c.1489+2T>C
NM_001182.5(ALDH7A1):c.1489+5del
NM_001182.5(ALDH7A1):c.1489+6T>C rs763393955
NM_001182.5(ALDH7A1):c.1489+7A>G
NM_001182.5(ALDH7A1):c.1490-15T>A
NM_001182.5(ALDH7A1):c.1490-19T>C
NM_001182.5(ALDH7A1):c.1490-1G>A
NM_001182.5(ALDH7A1):c.1490-20A>T
NM_001182.5(ALDH7A1):c.1490-4C>T
NM_001182.5(ALDH7A1):c.1490-6C>T
NM_001182.5(ALDH7A1):c.1490-7T>C rs1057522259
NM_001182.5(ALDH7A1):c.1491A>G (p.Gly497=) rs764688935
NM_001182.5(ALDH7A1):c.149A>G (p.Glu50Gly) rs2112819973
NM_001182.5(ALDH7A1):c.1507G>A (p.Gly503Ser) rs1749787678
NM_001182.5(ALDH7A1):c.1509T>C (p.Gly503=)
NM_001182.5(ALDH7A1):c.150A>G (p.Glu50=)
NM_001182.5(ALDH7A1):c.1510G>C (p.Gly504Arg) rs1434175322
NM_001182.5(ALDH7A1):c.1512T>C (p.Gly504=)
NM_001182.5(ALDH7A1):c.1514G>T (p.Gly505Val)
NM_001182.5(ALDH7A1):c.1515C>A (p.Gly505=) rs765576421
NM_001182.5(ALDH7A1):c.1517G>A (p.Arg506Lys) rs2112746227
NM_001182.5(ALDH7A1):c.1518G>A (p.Arg506=)
NM_001182.5(ALDH7A1):c.1519G>C (p.Glu507Gln) rs2112746220
NM_001182.5(ALDH7A1):c.1520A>C (p.Glu507Ala) rs80049945
NM_001182.5(ALDH7A1):c.1524T>C (p.Ser508=)
NM_001182.5(ALDH7A1):c.1524dup (p.Gly509fs)
NM_001182.5(ALDH7A1):c.1527C>G (p.Gly509=)
NM_001182.5(ALDH7A1):c.1530T>C (p.Ser510=)
NM_001182.5(ALDH7A1):c.1531G>A (p.Asp511Asn)
NM_001182.5(ALDH7A1):c.1532A>G (p.Asp511Gly) rs1296767826
NM_001182.5(ALDH7A1):c.1536C>A (p.Ala512=)
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=) rs1015790945
NM_001182.5(ALDH7A1):c.1548C>T (p.Tyr516=)
NM_001182.5(ALDH7A1):c.1549A>T (p.Met517Leu) rs1749785606
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) rs1064794774
NM_001182.5(ALDH7A1):c.1553G>A (p.Arg518Lys)
NM_001182.5(ALDH7A1):c.1553G>C (p.Arg518Thr)
NM_001182.5(ALDH7A1):c.1554A>G (p.Arg518=) rs1749785160
NM_001182.5(ALDH7A1):c.1557G>A (p.Arg519=)
NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) rs1554097854
NM_001182.5(ALDH7A1):c.1565+12C>G
NM_001182.5(ALDH7A1):c.1565+18G>A
NM_001182.5(ALDH7A1):c.1565+7A>G
NM_001182.5(ALDH7A1):c.1566-14T>A rs1749740538
NM_001182.5(ALDH7A1):c.1566-14dup rs1396199299
NM_001182.5(ALDH7A1):c.1566-20C>A
NM_001182.5(ALDH7A1):c.1566-20C>T
NM_001182.5(ALDH7A1):c.1566-8C>T
NM_001182.5(ALDH7A1):c.156G>A (p.Glu52=) rs1331857054
NM_001182.5(ALDH7A1):c.1570A>G (p.Ile524Val)
NM_001182.5(ALDH7A1):c.1575C>G (p.Asn525Lys) rs1749738847
NM_001182.5(ALDH7A1):c.1578_1582del (p.Tyr526_Lys528delinsTer)
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.159C>T (p.Gly53=)
NM_001182.5(ALDH7A1):c.160G>A (p.Val54Met) rs1751695700
NM_001182.5(ALDH7A1):c.162G>A (p.Val54=)
NM_001182.5(ALDH7A1):c.165T>C (p.Tyr55=)
NM_001182.5(ALDH7A1):c.168T>C (p.Asn56=)
NM_001182.5(ALDH7A1):c.16C>A (p.Arg6Ser) rs781779462
NM_001182.5(ALDH7A1):c.170G>C (p.Gly57Ala) rs1751695413
NM_001182.5(ALDH7A1):c.177G>A (p.Trp59Ter) rs1064794242
NM_001182.5(ALDH7A1):c.180A>C (p.Gly60=)
NM_001182.5(ALDH7A1):c.182G>C (p.Gly61Ala)
NM_001182.5(ALDH7A1):c.184C>T (p.Arg62Trp) rs1751694421
NM_001182.5(ALDH7A1):c.187G>A (p.Gly63Arg)
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001182.5(ALDH7A1):c.18C>T (p.Arg6=) rs771562794
NM_001182.5(ALDH7A1):c.191_192dup (p.Val65fs) rs796052270
NM_001182.5(ALDH7A1):c.192+10C>G
NM_001182.5(ALDH7A1):c.192+11G>T rs529506268
NM_001182.5(ALDH7A1):c.192+17G>A
NM_001182.5(ALDH7A1):c.192+3A>T rs773814169
NM_001182.5(ALDH7A1):c.192+5G>A rs2112819871
NM_001182.5(ALDH7A1):c.192G>A (p.Glu64=) rs1581409051
NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp) rs1581409051
NM_001182.5(ALDH7A1):c.193-13C>T
NM_001182.5(ALDH7A1):c.193-15T>A
NM_001182.5(ALDH7A1):c.193-15_193-9delinsCCCTTTG
NM_001182.5(ALDH7A1):c.193-17C>T rs2112817301
NM_001182.5(ALDH7A1):c.193-20C>A
NM_001182.5(ALDH7A1):c.193-22ATC[2]
NM_001182.5(ALDH7A1):c.193-5T>C
NM_001182.5(ALDH7A1):c.19_32delinsCACATACTGAGCC (p.Ala7fs) rs1751705211
NM_001182.5(ALDH7A1):c.1A>G (p.Met1Val)
NM_001182.5(ALDH7A1):c.201G>A (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.206A>G (p.Tyr69Cys) rs796052258
NM_001182.5(ALDH7A1):c.207T>C (p.Tyr69=)
NM_001182.5(ALDH7A1):c.20C>T (p.Ala7Val) rs1561674305
NM_001182.5(ALDH7A1):c.213T>C (p.Pro71=) rs1406194717
NM_001182.5(ALDH7A1):c.21G>A (p.Ala7=)
NM_001182.5(ALDH7A1):c.21G>T (p.Ala7=)
NM_001182.5(ALDH7A1):c.21_22delinsTG (p.Leu8Val) rs2112820337
NM_001182.5(ALDH7A1):c.223G>A (p.Glu75Lys)
NM_001182.5(ALDH7A1):c.22C>T (p.Leu8=)
NM_001182.5(ALDH7A1):c.234_235del (p.Arg79fs)
NM_001182.5(ALDH7A1):c.239T>G (p.Val80Gly)
NM_001182.5(ALDH7A1):c.23T>C (p.Leu8Pro) rs796052255
NM_001182.5(ALDH7A1):c.242G>T (p.Arg81Leu) rs1751621256
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs) rs1317880376
NM_001182.5(ALDH7A1):c.246+10_246+11insTGTA
NM_001182.5(ALDH7A1):c.246+15G>C rs975277958
NM_001182.5(ALDH7A1):c.246+16_246+17insTGTT
NM_001182.5(ALDH7A1):c.246+16_246+17insTT
NM_001182.5(ALDH7A1):c.246+18_246+19insTGTA
NM_001182.5(ALDH7A1):c.246+19G>T rs2112817029
NM_001182.5(ALDH7A1):c.246+3A>G
NM_001182.5(ALDH7A1):c.246+4AG[3]
NM_001182.5(ALDH7A1):c.246+6_246+7del rs1554101757
NM_001182.5(ALDH7A1):c.246+6_246+7insAT
NM_001182.5(ALDH7A1):c.246+7GT[16] rs142510783
NM_001182.5(ALDH7A1):c.246+7GT[22] rs142510783
NM_001182.5(ALDH7A1):c.246+7GT[7]
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGT
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGTGT
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGTGTGT rs1751619608
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGTGTGTGT
NM_001182.5(ALDH7A1):c.246+8_246+9insGTAT
NM_001182.5(ALDH7A1):c.247-13A>T
NM_001182.5(ALDH7A1):c.247-13dup
NM_001182.5(ALDH7A1):c.247-16C>T
NM_001182.5(ALDH7A1):c.247-18C>G
NM_001182.5(ALDH7A1):c.247-18C>T
NM_001182.5(ALDH7A1):c.247-1G>A
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001182.5(ALDH7A1):c.247-20C>T
NM_001182.5(ALDH7A1):c.247G>A (p.Ala83Thr) rs1561672611
NM_001182.5(ALDH7A1):c.24G>C (p.Leu8=)
NM_001182.5(ALDH7A1):c.24G>T (p.Leu8=)
NM_001182.5(ALDH7A1):c.261C>G (p.Asp87Glu)
NM_001182.5(ALDH7A1):c.263_264del (p.Asp87_Tyr88insTer)
NM_001182.5(ALDH7A1):c.276A>G (p.Val92=)
NM_001182.5(ALDH7A1):c.27T>C (p.Cys9=)
NM_001182.5(ALDH7A1):c.285A>C (p.Ala95=)
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.286A>G (p.Arg96Gly) rs1751591318
NM_001182.5(ALDH7A1):c.294A>G (p.Ala98=)
NM_001182.5(ALDH7A1):c.296G>A (p.Trp99Ter)
NM_001182.5(ALDH7A1):c.2T>A (p.Met1Lys) rs1168011770
NM_001182.5(ALDH7A1):c.30G>A (p.Val10=)
NM_001182.5(ALDH7A1):c.312+10G>A
NM_001182.5(ALDH7A1):c.312+11C>A
NM_001182.5(ALDH7A1):c.312+11C>G
NM_001182.5(ALDH7A1):c.312+12C>G
NM_001182.5(ALDH7A1):c.312+1G>T
NM_001182.5(ALDH7A1):c.312+2T>A rs1561672504
NM_001182.5(ALDH7A1):c.312+2T>G
NM_001182.5(ALDH7A1):c.313-10C>A rs567441242
NM_001182.5(ALDH7A1):c.313-10C>T
NM_001182.5(ALDH7A1):c.313-13A>C
NM_001182.5(ALDH7A1):c.313-14C>T
NM_001182.5(ALDH7A1):c.313-15G>A rs201720741
NM_001182.5(ALDH7A1):c.313-15G>T
NM_001182.5(ALDH7A1):c.315T>C (p.Ile105=)
NM_001182.5(ALDH7A1):c.316C>A (p.Pro106Thr)
NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu) rs796052269
NM_001182.5(ALDH7A1):c.321T>C (p.Ala107=) rs1325708741
NM_001182.5(ALDH7A1):c.329GAG[1] (p.Gly111del)
NM_001182.5(ALDH7A1):c.330A>T (p.Arg110=)
NM_001182.5(ALDH7A1):c.345A>G (p.Arg115=)
NM_001182.5(ALDH7A1):c.351T>A (p.Ile117=)
NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp) rs549279821
NM_001182.5(ALDH7A1):c.365G>A (p.Arg122Gln) rs796052256
NM_001182.5(ALDH7A1):c.36T>C (p.Ala12=)
NM_001182.5(ALDH7A1):c.382C>T (p.Leu128=)
NM_001182.5(ALDH7A1):c.384A>G (p.Leu128=) rs1392808647
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=) rs1467521069
NM_001182.5(ALDH7A1):c.388_518-1428del
NM_001182.5(ALDH7A1):c.393+10T>C
NM_001182.5(ALDH7A1):c.393+11T>G
NM_001182.5(ALDH7A1):c.393+16A>C
NM_001182.5(ALDH7A1):c.393+17G>T
NM_001182.5(ALDH7A1):c.393+18T>C
NM_001182.5(ALDH7A1):c.393+18dup
NM_001182.5(ALDH7A1):c.393+19A>G
NM_001182.5(ALDH7A1):c.393+1G>A rs2112804344
NM_001182.5(ALDH7A1):c.393+20T>A
NM_001182.5(ALDH7A1):c.393+2T>G
NM_001182.5(ALDH7A1):c.393+9T>G
NM_001182.5(ALDH7A1):c.394-16C>T
NM_001182.5(ALDH7A1):c.394-18G>A
NM_001182.5(ALDH7A1):c.394-1G>A
NM_001182.5(ALDH7A1):c.394-1G>C rs1064794053
NM_001182.5(ALDH7A1):c.394-2A>G rs1450133957
NM_001182.5(ALDH7A1):c.396G>A (p.Val132=)
NM_001182.5(ALDH7A1):c.398C>G (p.Ser133Cys) rs1295063805
NM_001182.5(ALDH7A1):c.39_192+517del
NM_001182.5(ALDH7A1):c.412A>C (p.Lys138Gln)
NM_001182.5(ALDH7A1):c.422T>C (p.Val141Ala) rs1751225927
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) rs199653162
NM_001182.5(ALDH7A1):c.427G>C (p.Gly143Arg)
NM_001182.5(ALDH7A1):c.428G>C (p.Gly143Ala)
NM_001182.5(ALDH7A1):c.42G>C (p.Lys14Asn) rs1751704302
NM_001182.5(ALDH7A1):c.430G>A (p.Val144Met) rs1481441203
NM_001182.5(ALDH7A1):c.434G>A (p.Gly145Asp) rs2112802788
NM_001182.5(ALDH7A1):c.438A>C (p.Glu146Asp) rs1751225267
NM_001182.5(ALDH7A1):c.439G>T (p.Val147Phe)
NM_001182.5(ALDH7A1):c.43A>G (p.Thr15Ala)
NM_001182.5(ALDH7A1):c.442C>G (p.Gln148Glu) rs551773096
NM_001182.5(ALDH7A1):c.442C>T (p.Gln148Ter)
NM_001182.5(ALDH7A1):c.449A>G (p.Tyr150Cys)
NM_001182.5(ALDH7A1):c.458T>C (p.Ile153Thr) rs2112802741
NM_001182.5(ALDH7A1):c.464A>C (p.Asp155Ala)
NM_001182.5(ALDH7A1):c.467A>G (p.Tyr156Cys) rs2112802725
NM_001182.5(ALDH7A1):c.483A>G (p.Ser161=) rs1751224346
NM_001182.5(ALDH7A1):c.485G>A (p.Arg162Lys) rs781569684
NM_001182.5(ALDH7A1):c.487A>G (p.Met163Val) rs1484484387
NM_001182.5(ALDH7A1):c.492T>C (p.Ile164=)
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001182.5(ALDH7A1):c.495A>T (p.Gly165=)
NM_001182.5(ALDH7A1):c.500del (p.Pro167fs)
NM_001182.5(ALDH7A1):c.508C>T (p.Pro170Ser)
NM_001182.5(ALDH7A1):c.509C>T (p.Pro170Leu) rs2112802656
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) rs1444879414
NM_001182.5(ALDH7A1):c.513T>C (p.Ser171=)
NM_001182.5(ALDH7A1):c.517+13A>G
NM_001182.5(ALDH7A1):c.517+14T>C
NM_001182.5(ALDH7A1):c.517+16A>G
NM_001182.5(ALDH7A1):c.517+17G>A rs1371460947
NM_001182.5(ALDH7A1):c.517+5G>A
NM_001182.5(ALDH7A1):c.517+9T>C
NM_001182.5(ALDH7A1):c.518-10_518-9del rs1554100459
NM_001182.5(ALDH7A1):c.518-11T>C rs1390954678
NM_001182.5(ALDH7A1):c.518-14_518delinsCA
NM_001182.5(ALDH7A1):c.518-17C>A
NM_001182.5(ALDH7A1):c.518-18T>A
NM_001182.5(ALDH7A1):c.518-19A>G
NM_001182.5(ALDH7A1):c.518-1G>C rs779494572
NM_001182.5(ALDH7A1):c.518-2A>G
NM_001182.5(ALDH7A1):c.518-2A>T
NM_001182.5(ALDH7A1):c.518-4T>C rs2112794764
NM_001182.5(ALDH7A1):c.518-8G>A rs886059850
NM_001182.5(ALDH7A1):c.518-8G>T
NM_001182.5(ALDH7A1):c.51G>A (p.Lys17=)
NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs) rs765119568
NM_001182.5(ALDH7A1):c.533T>C (p.Leu178Pro) rs2112794713
NM_001182.5(ALDH7A1):c.536T>C (p.Ile179Thr) rs763217060
NM_001182.5(ALDH7A1):c.537T>G (p.Ile179Met)
NM_001182.5(ALDH7A1):c.538dup (p.Glu180fs) rs2112794702
NM_001182.5(ALDH7A1):c.53T>C (p.Leu18Pro) rs1751703307
NM_001182.5(ALDH7A1):c.553G>T (p.Val185Leu) rs61757685
NM_001182.5(ALDH7A1):c.568A>G (p.Ile190Val) rs2112794630
NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val) rs1060499755
NM_001182.5(ALDH7A1):c.574A>G (p.Thr192Ala) rs1751003876
NM_001182.5(ALDH7A1):c.575C>A (p.Thr192Lys)
NM_001182.5(ALDH7A1):c.586T>A (p.Phe196Ile)
NM_001182.5(ALDH7A1):c.588C>T (p.Phe196=)
NM_001182.5(ALDH7A1):c.58G>A (p.Gly20Arg) rs1751702703
NM_001182.5(ALDH7A1):c.593T>C (p.Val198Ala)
NM_001182.5(ALDH7A1):c.595G>A (p.Ala199Thr)
NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val) rs121912709
NM_001182.5(ALDH7A1):c.59G>C (p.Gly20Ala)
NM_001182.5(ALDH7A1):c.600G>T (p.Val200=)
NM_001182.5(ALDH7A1):c.605G>A (p.Gly202Asp)
NM_001182.5(ALDH7A1):c.605G>T (p.Gly202Val)
NM_001182.5(ALDH7A1):c.608G>A (p.Trp203Ter)
NM_001182.5(ALDH7A1):c.612C>T (p.Asn204=)
NM_001182.5(ALDH7A1):c.616G>A (p.Ala206Thr) rs1751000940
NM_001182.5(ALDH7A1):c.619A>T (p.Ile207Phe)
NM_001182.5(ALDH7A1):c.61C>A (p.Pro21Thr) rs2112820209
NM_001182.5(ALDH7A1):c.621_624del (p.Ile207_Ala208insTer)
NM_001182.5(ALDH7A1):c.623C>T (p.Ala208Val) rs200433565
NM_001182.5(ALDH7A1):c.632G>T (p.Cys211Phe) rs1131691976
NM_001182.5(ALDH7A1):c.636A>G (p.Gly212=) rs1750999639
NM_001182.5(ALDH7A1):c.637A>G (p.Asn213Asp)
NM_001182.5(ALDH7A1):c.63T>G (p.Pro21=)
NM_001182.5(ALDH7A1):c.642C>G (p.Val214=)
NM_001182.5(ALDH7A1):c.646C>T (p.Leu216Phe) rs753791407
NM_001182.5(ALDH7A1):c.647T>C (p.Leu216Pro) rs1750999017
NM_001182.5(ALDH7A1):c.650+14A>C
NM_001182.5(ALDH7A1):c.650+14A>T
NM_001182.5(ALDH7A1):c.650+18T>G
NM_001182.5(ALDH7A1):c.650+19C>T
NM_001182.5(ALDH7A1):c.650+7C>G
NM_001182.5(ALDH7A1):c.651-12A>G
NM_001182.5(ALDH7A1):c.651-18T>A rs2112792324
NM_001182.5(ALDH7A1):c.651-25_651-20del rs781687339
NM_001182.5(ALDH7A1):c.651-2A>G
NM_001182.5(ALDH7A1):c.651-6_651-4del
NM_001182.5(ALDH7A1):c.651G>C (p.Trp217Cys) rs1750933255
NM_001182.5(ALDH7A1):c.658G>A (p.Ala220Thr) rs2112792275
NM_001182.5(ALDH7A1):c.663A>C (p.Pro221=)
NM_001182.5(ALDH7A1):c.669T>C (p.Thr223=) rs1335654711
NM_001182.5(ALDH7A1):c.66G>A (p.Trp22Ter)
NM_001182.5(ALDH7A1):c.66G>C (p.Trp22Cys) rs1049217
NM_001182.5(ALDH7A1):c.671C>G (p.Ser224Cys) rs1389146330
NM_001182.5(ALDH7A1):c.671C>T (p.Ser224Phe) rs1389146330
NM_001182.5(ALDH7A1):c.676A>G (p.Ile226Val)
NM_001182.5(ALDH7A1):c.682G>A (p.Val228Met) rs201832111
NM_001182.5(ALDH7A1):c.685G>A (p.Ala229Thr)
NM_001182.5(ALDH7A1):c.686C>T (p.Ala229Val) rs1473102872
NM_001182.5(ALDH7A1):c.688G>A (p.Val230Ile)
NM_001182.5(ALDH7A1):c.692C>G (p.Thr231Arg)
NM_001182.5(ALDH7A1):c.693A>T (p.Thr231=)
NM_001182.5(ALDH7A1):c.695+11G>A
NM_001182.5(ALDH7A1):c.695+12T>G
NM_001182.5(ALDH7A1):c.695+14G>T
NM_001182.5(ALDH7A1):c.695+14del
NM_001182.5(ALDH7A1):c.695+24_695+25insACATGTGGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_001182.5(ALDH7A1):c.695+2T>G
NM_001182.5(ALDH7A1):c.695+3A>C
NM_001182.5(ALDH7A1):c.695+3A>T
NM_001182.5(ALDH7A1):c.695+9A>G rs896157730
NM_001182.5(ALDH7A1):c.696-16G>A
NM_001182.5(ALDH7A1):c.696-16G>T
NM_001182.5(ALDH7A1):c.696-19A>G
NM_001182.5(ALDH7A1):c.696-1G>T
NM_001182.5(ALDH7A1):c.696-4C>G
NM_001182.5(ALDH7A1):c.696-502G>C rs2112786192
NM_001182.5(ALDH7A1):c.697ATA[3] (p.Ile234_Ala235insIle)
NM_001182.5(ALDH7A1):c.699A>T (p.Ile233=)
NM_001182.5(ALDH7A1):c.69C>G (p.Ser23Arg)
NM_001182.5(ALDH7A1):c.69C>T (p.Ser23=) rs763900156
NM_001182.5(ALDH7A1):c.705C>T (p.Ala235=)
NM_001182.5(ALDH7A1):c.71G>C (p.Arg24Thr)
NM_001182.5(ALDH7A1):c.720CAA[1] (p.Asn241del) rs1195228817
NM_001182.5(ALDH7A1):c.723C>T (p.Asn241=)
NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=) rs1420938162
NM_001182.5(ALDH7A1):c.732T>C (p.Pro244=) rs1437011091
NM_001182.5(ALDH7A1):c.739A>G (p.Ile247Val)
NM_001182.5(ALDH7A1):c.750G>A (p.Leu250=) rs2112785354
NM_001182.5(ALDH7A1):c.761G>A (p.Gly254Glu)
NM_001182.5(ALDH7A1):c.765A>C (p.Ala255=)
NM_001182.5(ALDH7A1):c.766G>C (p.Asp256His)
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs) rs1373022366
NM_001182.5(ALDH7A1):c.771T>A (p.Ile257=) rs1057520469
NM_001182.5(ALDH7A1):c.771T>C (p.Ile257=) rs1057520469
NM_001182.5(ALDH7A1):c.773+11A>T
NM_001182.5(ALDH7A1):c.773+15T>C
NM_001182.5(ALDH7A1):c.773+7T>C
NM_001182.5(ALDH7A1):c.773+8A>C
NM_001182.5(ALDH7A1):c.774-14C>T
NM_001182.5(ALDH7A1):c.774-17T>C
NM_001182.5(ALDH7A1):c.774-21_774-18dup
NM_001182.5(ALDH7A1):c.774-2A>G
NM_001182.5(ALDH7A1):c.774-7C>A
NM_001182.5(ALDH7A1):c.774-9C>G
NM_001182.5(ALDH7A1):c.788A>G (p.Lys263Arg) rs1750659916
NM_001182.5(ALDH7A1):c.78C>A (p.Ala26=)
NM_001182.5(ALDH7A1):c.78C>T (p.Ala26=)
NM_001182.5(ALDH7A1):c.791A>T (p.Asp264Val)
NM_001182.5(ALDH7A1):c.796C>G (p.Arg266Gly) rs1270423610
NM_001182.5(ALDH7A1):c.79G>A (p.Ala27Thr)
NM_001182.5(ALDH7A1):c.79G>C (p.Ala27Pro) rs1060502950
NM_001182.5(ALDH7A1):c.807G>C (p.Leu269=)
NM_001182.5(ALDH7A1):c.808C>T (p.Leu270=) rs1173084371
NM_001182.5(ALDH7A1):c.810G>A (p.Leu270=)
NM_001182.5(ALDH7A1):c.810G>C (p.Leu270=)
NM_001182.5(ALDH7A1):c.812C>G (p.Ser271Cys) rs1450375365
NM_001182.5(ALDH7A1):c.813_814insAC (p.Phe272fs)
NM_001182.5(ALDH7A1):c.81C>T (p.Ala27=)
NM_001182.5(ALDH7A1):c.832G>T (p.Val278Leu) rs796262086
NM_001182.5(ALDH7A1):c.834G>C (p.Val278=) rs201948406
NM_001182.5(ALDH7A1):c.834G>T (p.Val278=)
NM_001182.5(ALDH7A1):c.841C>T (p.Gln281Ter) rs1170817007
NM_001182.5(ALDH7A1):c.841del (p.Gln281fs)
NM_001182.5(ALDH7A1):c.848G>A (p.Gly283Asp) rs1181991285
NM_001182.5(ALDH7A1):c.84C>T (p.Phe28=)
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001182.5(ALDH7A1):c.866_871+2dup rs1581378971
NM_001182.5(ALDH7A1):c.871+14T>A rs1554099737
NM_001182.5(ALDH7A1):c.871+15T>G
NM_001182.5(ALDH7A1):c.871+19A>G rs767268119
NM_001182.5(ALDH7A1):c.871+1G>A
NM_001182.5(ALDH7A1):c.871+5G>A
NM_001182.5(ALDH7A1):c.871+8T>A
NM_001182.5(ALDH7A1):c.871G>T (p.Gly291Trp) rs1750656759
NM_001182.5(ALDH7A1):c.872-16A>T
NM_001182.5(ALDH7A1):c.872-18T>C
NM_001182.5(ALDH7A1):c.872-1G>T
NM_001182.5(ALDH7A1):c.872-20T>C
NM_001182.5(ALDH7A1):c.872-6T>C rs1223691153
NM_001182.5(ALDH7A1):c.872-9dup
NM_001182.5(ALDH7A1):c.877dup (p.Ser293fs)
NM_001182.5(ALDH7A1):c.891T>G (p.Leu297=)
NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp) rs1750388096
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) rs121912711
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001182.5(ALDH7A1):c.904G>A (p.Ala302Thr) rs2112771286
NM_001182.5(ALDH7A1):c.908T>C (p.Ile303Thr) rs2112771278
NM_001182.5(ALDH7A1):c.909T>A (p.Ile303=)
NM_001182.5(ALDH7A1):c.913+10C>T
NM_001182.5(ALDH7A1):c.913+12T>C
NM_001182.5(ALDH7A1):c.913+6G>T
NM_001182.5(ALDH7A1):c.913+9G>A rs1750386871
NM_001182.5(ALDH7A1):c.914-118dup rs759132307
NM_001182.5(ALDH7A1):c.914-13G>C rs148928130
NM_001182.5(ALDH7A1):c.914-16T>C
NM_001182.5(ALDH7A1):c.914-19G>A
NM_001182.5(ALDH7A1):c.914-2A>C rs1581368665
NM_001182.5(ALDH7A1):c.916T>A (p.Phe306Ile) rs2112768468
NM_001182.5(ALDH7A1):c.917T>C (p.Phe306Ser) rs1750312560
NM_001182.5(ALDH7A1):c.91_92del (p.Thr31fs) rs1751700395
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)
NM_001182.5(ALDH7A1):c.926C>T (p.Ala309Val)
NM_001182.5(ALDH7A1):c.928G>T (p.Asp310Tyr)
NM_001182.5(ALDH7A1):c.936C>G (p.Ser312Arg) rs1561654302
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001182.5(ALDH7A1):c.948A>G (p.Pro316=)
NM_001182.5(ALDH7A1):c.951A>G (p.Ser317=)
NM_001182.5(ALDH7A1):c.952G>C (p.Ala318Pro) rs936151635
NM_001182.5(ALDH7A1):c.955C>A (p.Leu319Ile) rs775830338
NM_001182.5(ALDH7A1):c.961G>A (p.Ala321Thr) rs746212816
NM_001182.5(ALDH7A1):c.966T>C (p.Ala322=)
NM_001182.5(ALDH7A1):c.969G>A (p.Val323=) rs2112768347
NM_001182.5(ALDH7A1):c.973A>G (p.Thr325Ala) rs2112768333
NM_001182.5(ALDH7A1):c.974C>G (p.Thr325Arg)
NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) rs1554099008
NM_001182.5(ALDH7A1):c.982C>T (p.Gln328Ter) rs1750309299
NM_001182.5(ALDH7A1):c.983A>G (p.Gln328Arg)
NM_001182.5(ALDH7A1):c.985A>T (p.Arg329Trp)
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) rs864622558
NM_001182.5(ALDH7A1):c.986G>C (p.Arg329Thr)
NM_001182.5(ALDH7A1):c.987G>A (p.Arg329=)
NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser) rs761295869
NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)
NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser) rs543182575
NM_001182.5(ALDH7A1):c.995C>T (p.Thr332Ile) rs543182575
NM_001182.5(ALDH7A1):c.996T>C (p.Thr332=)
NM_001182.5(ALDH7A1):c.99C>T (p.Leu33=) rs1418934195
NM_001182.5(ALDH7A1):c.9C>A (p.Arg3=) rs770033340
NM_001182.5(ALDH7A1):c.9C>T (p.Arg3=) rs770033340

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