ClinVar Miner

List of variants studied for P5CS deficiency

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 508
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_002860.4(ALDH18A1):c.*292C>T rs78053774 0.00329
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_002860.4(ALDH18A1):c.-29+10G>A rs571140165 0.00119
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_002860.4(ALDH18A1):c.*698G>A rs557388312 0.00052
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr) rs150429857 0.00042
NM_002860.4(ALDH18A1):c.*734C>A rs184009046 0.00035
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.933+13T>C rs201520042 0.00032
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_002860.4(ALDH18A1):c.76G>A (p.Val26Ile) rs200242907 0.00024
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His) rs201069261 0.00022
NM_002860.4(ALDH18A1):c.37T>A (p.Phe13Ile) rs376664715 0.00021
NM_002860.4(ALDH18A1):c.96C>A (p.Ile32=) rs11541779 0.00020
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) rs374047257 0.00015
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln) rs771386671 0.00014
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg) rs143635402 0.00014
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) rs141291042 0.00014
NM_002860.4(ALDH18A1):c.1152+8_1152+9del rs373488364 0.00011
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg) rs145197911 0.00011
NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=) rs148228931 0.00010
NM_002860.4(ALDH18A1):c.4T>C (p.Leu2=) rs755446179 0.00010
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln) rs201691969 0.00010
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile) rs142746793 0.00009
NM_002860.4(ALDH18A1):c.678C>T (p.Val226=) rs772829720 0.00008
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) rs368147360 0.00008
NM_002860.4(ALDH18A1):c.-5G>A rs371024575 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_002860.4(ALDH18A1):c.*293G>A rs913851343 0.00006
NM_002860.4(ALDH18A1):c.-140G>A rs931860076 0.00006
NM_002860.4(ALDH18A1):c.1467+16G>A rs371225175 0.00006
NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val) rs529294368 0.00006
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00006
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly) rs372744264 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00006
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) rs774047299 0.00006
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=) rs150056435 0.00004
NM_002860.4(ALDH18A1):c.1078+17A>G rs745857450 0.00004
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) rs745614904 0.00004
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.1485C>T (p.Ile495=) rs777125038 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=) rs141192935 0.00004
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln) rs774274057 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_002860.4(ALDH18A1):c.2206+17T>C rs200513474 0.00004
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile) rs781126562 0.00004
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=) rs1016828034 0.00004
NM_002860.4(ALDH18A1):c.27G>C (p.Gly9=) rs368431558 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=) rs767594147 0.00004
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=) rs745705105 0.00004
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe) rs747291828 0.00004
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr) rs113678237 0.00004
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val) rs371294018 0.00003
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=) rs558532112 0.00003
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg) rs774081826 0.00003
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met) rs769823561 0.00003
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His) rs192921117 0.00003
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys) rs147348068 0.00003
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=) rs770247123 0.00003
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val) rs373239891 0.00003
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) rs770442555 0.00003
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=) rs145806693 0.00003
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=) rs753837028 0.00003
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys) rs202169492 0.00003
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) rs747918055 0.00003
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) rs201841420 0.00003
NM_002860.4(ALDH18A1):c.933+14G>A rs546156675 0.00003
NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=) rs769800738 0.00003
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) rs907590719 0.00002
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His) rs765122458 0.00002
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys) rs763868475 0.00002
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His) rs760865106 0.00002
NM_002860.4(ALDH18A1):c.183C>T (p.Phe61=) rs375400820 0.00002
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=) rs779516879 0.00002
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=) rs1002367939 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) rs369153920 0.00002
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=) rs1278292461 0.00002
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=) rs377506019 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002860.4(ALDH18A1):c.454-9A>G rs775098819 0.00002
NM_002860.4(ALDH18A1):c.465C>T (p.Val155=) rs545084277 0.00002
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His) rs746256246 0.00002
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe) rs1380580792 0.00002
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=) rs754882491 0.00002
NM_002860.4(ALDH18A1):c.-44G>A rs1443127759 0.00001
NM_002860.4(ALDH18A1):c.1041G>A (p.Lys347=) rs2097862079 0.00001
NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=) rs886047512 0.00001
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn) rs1242600175 0.00001
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe) rs758828421 0.00001
NM_002860.4(ALDH18A1):c.1247-19C>G rs772575442 0.00001
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro) rs1413173287 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.1320G>A (p.Leu440=) rs537092003 0.00001
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=) rs771965130 0.00001
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His) rs756168752 0.00001
NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val) rs762154638 0.00001
NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val) rs569086681 0.00001
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr) rs560598479 0.00001
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly) rs796197665 0.00001
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=) rs368774840 0.00001
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg) rs753157831 0.00001
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His) rs754880517 0.00001
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg) rs1085307606 0.00001
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys) rs777991529 0.00001
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser) rs752764884 0.00001
NM_002860.4(ALDH18A1):c.1923+1G>A rs863223315 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_002860.4(ALDH18A1):c.2034G>A (p.Val678=) rs1328125928 0.00001
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly) rs1363547996 0.00001
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys) rs758219423 0.00001
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile) rs756291410 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=) rs773545430 0.00001
NM_002860.4(ALDH18A1):c.378C>T (p.Arg126=) rs773835343 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val) rs1268586078 0.00001
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val) rs201428777 0.00001
NM_002860.4(ALDH18A1):c.558+6A>G rs751771445 0.00001
NM_002860.4(ALDH18A1):c.559-19A>G rs776600555 0.00001
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys) rs201801058 0.00001
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) rs757660360 0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter) rs758543218 0.00001
NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=) rs759465204 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-12T>C rs777274822 0.00001
NM_002860.4(ALDH18A1):c.809-13G>A rs756690468 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val) rs886047513 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_002860.4(ALDH18A1):c.934-7T>A rs772389382 0.00001
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=) rs751578810 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NC_000010.10:g.(?_97376214)_(97376391_?)del
NM_002860.4(ALDH18A1):c.*202T>C rs886047509
NM_002860.4(ALDH18A1):c.*466T>G rs886047508
NM_002860.4(ALDH18A1):c.*644A>G rs1052895099
NM_002860.4(ALDH18A1):c.-120A>G rs181772739
NM_002860.4(ALDH18A1):c.-67C>T rs886047514
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile) rs1346763871
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu) rs868590536
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val) rs933310637
NM_002860.4(ALDH18A1):c.1078+12_1078+14del
NM_002860.4(ALDH18A1):c.1078+20G>A
NM_002860.4(ALDH18A1):c.1078+4A>G rs1566018543
NM_002860.4(ALDH18A1):c.1078+5A>G rs2139591190
NM_002860.4(ALDH18A1):c.1078+6T>C rs919353563
NM_002860.4(ALDH18A1):c.1079-11T>C
NM_002860.4(ALDH18A1):c.1079-16G>T
NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
NM_002860.4(ALDH18A1):c.1137C>G (p.Thr379=)
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
NM_002860.4(ALDH18A1):c.1152+1G>A
NM_002860.4(ALDH18A1):c.1152+6A>C
NM_002860.4(ALDH18A1):c.1153-11C>G
NM_002860.4(ALDH18A1):c.1153-6T>C
NM_002860.4(ALDH18A1):c.1153-8_1153-5del
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg) rs2097858992
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) rs774081826
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
NM_002860.4(ALDH18A1):c.1191G>A (p.Thr397=)
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His) rs1283928441
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly) rs370450551
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln) rs147348068
NM_002860.4(ALDH18A1):c.1246+15A>G
NM_002860.4(ALDH18A1):c.1247-16C>G
NM_002860.4(ALDH18A1):c.1247-17T>A rs1208309079
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro) rs201069261
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter) rs145289559
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
NM_002860.4(ALDH18A1):c.1350C>T (p.Ser450=)
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) rs570730665
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu) rs570730665
NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)
NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro) rs771386671
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=) rs770247123
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) rs757876226
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile) rs778369085
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe) rs778369085
NM_002860.4(ALDH18A1):c.141G>A (p.Pro47=)
NM_002860.4(ALDH18A1):c.141G>T (p.Pro47=) rs748824728
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
NM_002860.4(ALDH18A1):c.1468-2A>C
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=) rs1374293487
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr) rs2139552444
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val) rs1194593234
NM_002860.4(ALDH18A1):c.1503G>A (p.Leu501=) rs77717600
NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln) rs185313265
NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu) rs140745368
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
NM_002860.4(ALDH18A1):c.1596_1600del (p.Val533fs) rs2097844381
NM_002860.4(ALDH18A1):c.1605+11G>C
NM_002860.4(ALDH18A1):c.1605+16T>C
NM_002860.4(ALDH18A1):c.1605+5G>A rs886047510
NM_002860.4(ALDH18A1):c.1606-13T>C
NM_002860.4(ALDH18A1):c.1606-15T>C rs2139542064
NM_002860.4(ALDH18A1):c.1606-18del rs532582192
NM_002860.4(ALDH18A1):c.1606-19_1606-15del
NM_002860.4(ALDH18A1):c.1606-7T>C
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile) rs552325165
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) rs2097840471
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=) rs139035272
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly) rs1231068982
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val) rs1755139847
NM_002860.4(ALDH18A1):c.1801+10A>G
NM_002860.4(ALDH18A1):c.1802-20C>A
NM_002860.4(ALDH18A1):c.1802-20C>G
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
NM_002860.4(ALDH18A1):c.1910T>C (p.Leu637Pro) rs869320690
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
NM_002860.4(ALDH18A1):c.1923+13T>C
NM_002860.4(ALDH18A1):c.1924-11del
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
NM_002860.4(ALDH18A1):c.1926A>G (p.Val642=) rs2139530896
NM_002860.4(ALDH18A1):c.1931T>A (p.Ile644Asn)
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro) rs2097834259
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp) rs2139530815
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg) rs1250411325
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe) rs2097834101
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu) rs766264810
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr) rs989031241
NM_002860.4(ALDH18A1):c.2028A>G (p.Glu676=) rs1327684346
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser) rs2139530277
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn) rs768807587
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr) rs2139530175
NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe) rs375705932
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro) rs753553298
NM_002860.4(ALDH18A1):c.2110+10C>T
NM_002860.4(ALDH18A1):c.2111-12_2111-10del
NM_002860.4(ALDH18A1):c.2111-14T>C
NM_002860.4(ALDH18A1):c.2111-5T>C
NM_002860.4(ALDH18A1):c.2111-7C>A rs542177817
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser) rs1325485951
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs) rs587777858
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)
NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser) rs2097831271
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His) rs774916138
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
NM_002860.4(ALDH18A1):c.2207-14A>T
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile) rs765567477
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) rs762271422
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu) rs762271422
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=) rs148601288
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg) rs2139513759
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe) rs2139513721
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg) rs2139513699
NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg) rs2139670118
NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr) rs553385013
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr) rs121434583
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=) rs537733180
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser) rs1085307589
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val) rs2139670109
NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys) rs2139642020
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
NM_002860.4(ALDH18A1):c.303+10A>T
NM_002860.4(ALDH18A1):c.303+12G>A
NM_002860.4(ALDH18A1):c.303+15A>G
NM_002860.4(ALDH18A1):c.303+4_303+7dup rs772902503
NM_002860.4(ALDH18A1):c.304-3del
NM_002860.4(ALDH18A1):c.304-8A>G rs371815111
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His) rs2097913334
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
NM_002860.4(ALDH18A1):c.357C>G (p.Ala119=) rs767594147
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.366T>C (p.Phe122=) rs2139622090
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe) rs2139621988
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) rs863225045
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) rs1302919102
NM_002860.4(ALDH18A1):c.42C>T (p.Asn14=)
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser) rs2139621272
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile) rs2139670010
NM_002860.4(ALDH18A1):c.522G>A (p.Glu174=) rs1240158166
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)
NM_002860.4(ALDH18A1):c.558+18G>T rs2139620979
NM_002860.4(ALDH18A1):c.559-12T>C
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr) rs747052164
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=) rs1589534526
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) rs201841420
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp) rs2139609482
NM_002860.4(ALDH18A1):c.717+13T>C
NM_002860.4(ALDH18A1):c.717+9A>C
NM_002860.4(ALDH18A1):c.718-20C>T rs1488774481
NM_002860.4(ALDH18A1):c.718-3T>C
NM_002860.4(ALDH18A1):c.718-7A>C rs1230591674
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu) rs2139608040
NM_002860.4(ALDH18A1):c.71C>T (p.Thr24Ile)
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg) rs2139607977
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) rs1555262375
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn) rs2097873418
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
NM_002860.4(ALDH18A1):c.808+3A>G
NM_002860.4(ALDH18A1):c.809-15_809-14del
NM_002860.4(ALDH18A1):c.809-18C>T rs778442273
NM_002860.4(ALDH18A1):c.809-1G>A rs1202802893
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002860.4(ALDH18A1):c.809-8T>C rs1405015772
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=) rs752470665
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser) rs372092118
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
NM_002860.4(ALDH18A1):c.867C>T (p.Pro289=)
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=) rs2097913253
NM_002860.4(ALDH18A1):c.88+13G>C
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) rs768985400
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879
NM_002860.4(ALDH18A1):c.89-3C>T
NM_002860.4(ALDH18A1):c.89-6C>G rs2097895286
NM_002860.4(ALDH18A1):c.89-9T>C
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_002860.4(ALDH18A1):c.933+1G>A rs2139593958
NM_002860.4(ALDH18A1):c.933+6A>C
NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=) rs566528582
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) rs192770256
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)

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