ClinVar Miner

List of variants in gene ALDH5A1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 385
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_001080.3(ALDH5A1):c.726+8G>A rs2817220 0.25132
NM_001080.3(ALDH5A1):c.1402+7G>A rs12211574 0.07141
NM_001080.3(ALDH5A1):c.610-5C>T rs76752785 0.04857
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_001080.3(ALDH5A1):c.727-15T>C rs13362724 0.01562
NM_001080.3(ALDH5A1):c.726+3G>A rs114082057 0.01442
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile) rs147358733 0.00105
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala) rs142482046 0.00060
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001080.3(ALDH5A1):c.355-9C>G rs375453445 0.00045
NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile) rs148733464 0.00043
NM_001080.3(ALDH5A1):c.1531G>A (p.Gly511Ser) rs377658514 0.00041
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile) rs147439442 0.00026
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=) rs200484487 0.00019
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) rs138912422 0.00019
NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His) rs369366567 0.00018
NM_001080.3(ALDH5A1):c.1014+8C>T rs368394825 0.00016
NM_001080.3(ALDH5A1):c.1080C>T (p.Phe360=) rs571602201 0.00016
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln) rs199500997 0.00016
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130 0.00015
NM_001080.3(ALDH5A1):c.735C>G (p.Ser245Arg) rs141430899 0.00015
NM_001080.3(ALDH5A1):c.1163C>T (p.Ala388Val) rs536355368 0.00014
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser) rs149793005 0.00014
NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala) rs369156704 0.00013
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001080.3(ALDH5A1):c.738G>A (p.Gln246=) rs372881980 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001080.3(ALDH5A1):c.727-13T>G rs187404409 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg) rs72552284 0.00008
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00007
NM_001080.3(ALDH5A1):c.1134T>C (p.Thr378=) rs1258501471 0.00006
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly) rs139719918 0.00006
NM_001080.3(ALDH5A1):c.1285A>T (p.Thr429Ser) rs1283096489 0.00006
NM_001080.3(ALDH5A1):c.1353A>C (p.Thr451=) rs146549665 0.00006
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) rs372455508 0.00006
NM_001080.3(ALDH5A1):c.652G>A (p.Ala218Thr) rs772998296 0.00006
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) rs778127154 0.00006
NM_001080.3(ALDH5A1):c.1169A>G (p.Glu390Gly) rs142677472 0.00005
NM_001080.3(ALDH5A1):c.1381G>A (p.Ala461Thr) rs768957232 0.00005
NM_001080.3(ALDH5A1):c.1412A>C (p.Tyr471Ser) rs71555150 0.00005
NM_001080.3(ALDH5A1):c.676G>A (p.Val226Met) rs770884090 0.00005
NM_001080.3(ALDH5A1):c.1186G>A (p.Val396Met) rs199686669 0.00004
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) rs118203983 0.00004
NM_001080.3(ALDH5A1):c.1277G>A (p.Cys426Tyr) rs764512077 0.00004
NM_001080.3(ALDH5A1):c.1343+20G>A rs374536399 0.00004
NM_001080.3(ALDH5A1):c.1354G>C (p.Glu452Gln) rs781336101 0.00004
NM_001080.3(ALDH5A1):c.1403-20G>A rs201826601 0.00004
NM_001080.3(ALDH5A1):c.1428C>T (p.Ala476=) rs1003592170 0.00004
NM_001080.3(ALDH5A1):c.1530C>T (p.Ser510=) rs780090048 0.00004
NM_001080.3(ALDH5A1):c.1539G>A (p.Gly513=) rs778867668 0.00004
NM_001080.3(ALDH5A1):c.1588G>C (p.Val530Leu) rs1027980375 0.00004
NM_001080.3(ALDH5A1):c.1596C>T (p.Tyr532=) rs370544116 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001080.3(ALDH5A1):c.606C>A (p.Thr202=) rs375585467 0.00004
NM_001080.3(ALDH5A1):c.794A>C (p.Lys265Thr) rs201146454 0.00004
NM_001080.3(ALDH5A1):c.870+14G>A rs375583348 0.00004
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=) rs188108571 0.00004
NM_001080.3(ALDH5A1):c.1014+13G>C rs201217389 0.00003
NM_001080.3(ALDH5A1):c.1051G>T (p.Gly351Cys) rs772638789 0.00003
NM_001080.3(ALDH5A1):c.1173+8dup rs770822292 0.00003
NM_001080.3(ALDH5A1):c.1174-10C>T rs754181566 0.00003
NM_001080.3(ALDH5A1):c.1264C>T (p.Pro422Ser) rs752944770 0.00003
NM_001080.3(ALDH5A1):c.1314G>A (p.Glu438=) rs1471758596 0.00003
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=) rs775722631 0.00003
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys) rs374232934 0.00003
NM_001080.3(ALDH5A1):c.1535T>G (p.Leu512Arg) rs752005255 0.00003
NM_001080.3(ALDH5A1):c.1541G>A (p.Arg514Gln) rs1232923691 0.00003
NM_001080.3(ALDH5A1):c.1558G>A (p.Gly520Ser) rs1179619995 0.00003
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) rs201484501 0.00003
NM_001080.3(ALDH5A1):c.355-4G>C rs775932045 0.00003
NM_001080.3(ALDH5A1):c.490C>T (p.Leu164=) rs749451380 0.00003
NM_001080.3(ALDH5A1):c.533T>C (p.Ile178Thr) rs375773360 0.00003
NM_001080.3(ALDH5A1):c.563C>T (p.Ala188Val) rs779139147 0.00003
NM_001080.3(ALDH5A1):c.583A>G (p.Ile195Val) rs759237061 0.00003
NM_001080.3(ALDH5A1):c.584T>C (p.Ile195Thr) rs923917352 0.00003
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=) rs4646837 0.00003
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=) rs760461822 0.00003
NM_001080.3(ALDH5A1):c.664G>A (p.Gly222Ser) rs766251446 0.00003
NM_001080.3(ALDH5A1):c.696C>T (p.Asp232=) rs145883639 0.00003
NM_001080.3(ALDH5A1):c.1014+7C>A rs1759660737 0.00002
NM_001080.3(ALDH5A1):c.1114A>G (p.Asn372Asp) rs200308698 0.00002
NM_001080.3(ALDH5A1):c.1173+12G>A rs1178556679 0.00002
NM_001080.3(ALDH5A1):c.1173+18T>C rs775059292 0.00002
NM_001080.3(ALDH5A1):c.1188G>A (p.Val396=) rs534575798 0.00002
NM_001080.3(ALDH5A1):c.1299G>C (p.Leu433=) rs781629841 0.00002
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=) rs771829991 0.00002
NM_001080.3(ALDH5A1):c.1336G>C (p.Val446Leu) rs370942126 0.00002
NM_001080.3(ALDH5A1):c.1343+8C>T rs775916984 0.00002
NM_001080.3(ALDH5A1):c.1347C>T (p.Phe449=) rs192771358 0.00002
NM_001080.3(ALDH5A1):c.1506C>T (p.Cys502=) rs200605419 0.00002
NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter) rs758087862 0.00002
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg) rs72552281 0.00002
NM_001080.3(ALDH5A1):c.560G>A (p.Arg187Gln) rs755160772 0.00002
NM_001080.3(ALDH5A1):c.609+9C>G rs369980939 0.00002
NM_001080.3(ALDH5A1):c.609G>A (p.Pro203=) rs142373741 0.00002
NM_001080.3(ALDH5A1):c.690C>T (p.Ala230=) rs544724128 0.00002
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys) rs751888532 0.00002
NM_001080.3(ALDH5A1):c.708C>T (p.Ser236=) rs771725195 0.00002
NM_001080.3(ALDH5A1):c.726+7C>T rs376318673 0.00002
NM_001080.3(ALDH5A1):c.871-13C>T rs778951931 0.00002
NM_001080.3(ALDH5A1):c.960C>T (p.Asn320=) rs781439143 0.00002
NM_001080.3(ALDH5A1):c.1015-2A>C rs769111673 0.00001
NM_001080.3(ALDH5A1):c.1081G>A (p.Ala361Thr) rs1759722342 0.00001
NM_001080.3(ALDH5A1):c.1082C>T (p.Ala361Val) rs763860786 0.00001
NM_001080.3(ALDH5A1):c.1083C>T (p.Ala361=) rs111525061 0.00001
NM_001080.3(ALDH5A1):c.1084G>A (p.Glu362Lys) rs1222413080 0.00001
NM_001080.3(ALDH5A1):c.1102C>T (p.Leu368=) rs767434033 0.00001
NM_001080.3(ALDH5A1):c.1105C>T (p.Arg369Cys) rs772038058 0.00001
NM_001080.3(ALDH5A1):c.1174-9A>C rs370984312 0.00001
NM_001080.3(ALDH5A1):c.1191T>G (p.Asn397Lys) rs923140210 0.00001
NM_001080.3(ALDH5A1):c.1192G>C (p.Asp398His) rs894412564 0.00001
NM_001080.3(ALDH5A1):c.1197C>T (p.Ala399=) rs747534238 0.00001
NM_001080.3(ALDH5A1):c.1216G>A (p.Val406Ile) rs143741652 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1235G>A (p.Arg412Gln) rs760658291 0.00001
NM_001080.3(ALDH5A1):c.1252A>C (p.Asn418His) rs759646740 0.00001
NM_001080.3(ALDH5A1):c.1255T>G (p.Phe419Val) rs1219635429 0.00001
NM_001080.3(ALDH5A1):c.1310A>G (p.Glu437Gly) rs201834553 0.00001
NM_001080.3(ALDH5A1):c.1403-17_1403-15dup rs1454619327 0.00001
NM_001080.3(ALDH5A1):c.1403-18C>A rs757181768 0.00001
NM_001080.3(ALDH5A1):c.1439G>A (p.Arg480Lys) rs1055012664 0.00001
NM_001080.3(ALDH5A1):c.1473C>T (p.Gly491=) rs369192820 0.00001
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser) rs776978579 0.00001
NM_001080.3(ALDH5A1):c.1534C>G (p.Leu512Val) rs1226094055 0.00001
NM_001080.3(ALDH5A1):c.1565A>G (p.Asp522Gly) rs777938693 0.00001
NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter) rs1421988285 0.00001
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr) rs953870735 0.00001
NM_001080.3(ALDH5A1):c.355G>A (p.Glu119Lys) rs763173446 0.00001
NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln) rs753604213 0.00001
NM_001080.3(ALDH5A1):c.411C>A (p.Asp137Glu) rs1216101332 0.00001
NM_001080.3(ALDH5A1):c.432T>C (p.Ala144=) rs746895751 0.00001
NM_001080.3(ALDH5A1):c.439-7A>G rs1437395260 0.00001
NM_001080.3(ALDH5A1):c.461A>G (p.His154Arg) rs141686677 0.00001
NM_001080.3(ALDH5A1):c.481G>A (p.Ala161Thr) rs139486423 0.00001
NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys) rs551902853 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.532A>G (p.Ile178Val) rs751365223 0.00001
NM_001080.3(ALDH5A1):c.541A>G (p.Thr181Ala) rs975269028 0.00001
NM_001080.3(ALDH5A1):c.595G>A (p.Ala199Thr) rs775136518 0.00001
NM_001080.3(ALDH5A1):c.603C>A (p.Ile201=) rs145003796 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080.3(ALDH5A1):c.609+5G>T rs376633237 0.00001
NM_001080.3(ALDH5A1):c.610-2A>G rs1301821497 0.00001
NM_001080.3(ALDH5A1):c.615T>C (p.Asn205=) rs1759307160 0.00001
NM_001080.3(ALDH5A1):c.649G>A (p.Ala217Thr) rs1064796319 0.00001
NM_001080.3(ALDH5A1):c.675C>T (p.Val225=) rs776598651 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001080.3(ALDH5A1):c.711C>T (p.Ala237=) rs893040301 0.00001
NM_001080.3(ALDH5A1):c.781C>G (p.Arg261Gly) rs774496720 0.00001
NM_001080.3(ALDH5A1):c.783A>G (p.Arg261=) rs761068786 0.00001
NM_001080.3(ALDH5A1):c.786G>C (p.Lys262Asn) rs766715554 0.00001
NM_001080.3(ALDH5A1):c.793A>G (p.Lys265Glu) rs760040470 0.00001
NM_001080.3(ALDH5A1):c.798A>T (p.Glu266Asp) rs751098237 0.00001
NM_001080.3(ALDH5A1):c.848C>G (p.Thr283Ser) rs1759548002 0.00001
NM_001080.3(ALDH5A1):c.885C>T (p.His295=) rs367554353 0.00001
NM_001080.3(ALDH5A1):c.923G>A (p.Gly308Asp) rs766161222 0.00001
NM_001080.3(ALDH5A1):c.925G>A (p.Gly309Ser) rs768719885 0.00001
NM_001080.3(ALDH5A1):c.958A>G (p.Asn320Asp) rs912930280 0.00001
NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs) rs747336313 0.00001
NM_001080.3(ALDH5A1):c.978A>T (p.Ala326=) rs1234197652 0.00001
NC_000006.11:g.(?_24495225)_(24523163_?)dup
NC_000006.11:g.(?_24495225)_(24523173_?)dup
NC_000006.11:g.(?_24502731)_(24515558_?)del
NC_000006.11:g.(?_24505077)_(24533940_?)del
NC_000006.11:g.(?_24505087)_(24533940_?)del
NC_000006.11:g.(?_24532327)_(24533940_?)del
NC_000006.12:g.(?_24527977)_(24528186_?)del
NM_001080.3(ALDH5A1):c.1001G>T (p.Arg334Met)
NM_001080.3(ALDH5A1):c.1008T>C (p.Thr336=) rs375086516
NM_001080.3(ALDH5A1):c.1014+12A>G rs2127387325
NM_001080.3(ALDH5A1):c.1014+7C>G
NM_001080.3(ALDH5A1):c.1015-12T>C
NM_001080.3(ALDH5A1):c.1015-19G>A rs1462649062
NM_001080.3(ALDH5A1):c.1015-1G>C rs2127387936
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1019G>C (p.Cys340Ser) rs1365441831
NM_001080.3(ALDH5A1):c.1020T>G (p.Cys340Trp) rs887448536
NM_001080.3(ALDH5A1):c.1064C>T (p.Ala355Val)
NM_001080.3(ALDH5A1):c.1071A>G (p.Val357=) rs2127387956
NM_001080.3(ALDH5A1):c.1080C>G (p.Phe360Leu) rs571602201
NM_001080.3(ALDH5A1):c.1083C>A (p.Ala361=) rs111525061
NM_001080.3(ALDH5A1):c.1091T>C (p.Met364Thr) rs2127387964
NM_001080.3(ALDH5A1):c.1104G>A (p.Leu368=)
NM_001080.3(ALDH5A1):c.1116T>C (p.Asn372=)
NM_001080.3(ALDH5A1):c.1120T>G (p.Phe374Val) rs1561876817
NM_001080.3(ALDH5A1):c.1140G>A (p.Gln380=) rs1759725179
NM_001080.3(ALDH5A1):c.1164G>A (p.Ala388=) rs553384589
NM_001080.3(ALDH5A1):c.1164G>C (p.Ala388=) rs553384589
NM_001080.3(ALDH5A1):c.1164G>T (p.Ala388=) rs553384589
NM_001080.3(ALDH5A1):c.1165G>A (p.Val389Ile)
NM_001080.3(ALDH5A1):c.1173+10T>C
NM_001080.3(ALDH5A1):c.1173+1G>T
NM_001080.3(ALDH5A1):c.1174-16C>T rs1402795545
NM_001080.3(ALDH5A1):c.1174-7T>C rs999796055
NM_001080.3(ALDH5A1):c.1176G>A (p.Val392=)
NM_001080.3(ALDH5A1):c.1243C>A (p.Leu415Ile) rs1581824124
NM_001080.3(ALDH5A1):c.1247G>A (p.Gly416Glu)
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
NM_001080.3(ALDH5A1):c.1269C>T (p.Thr423=) rs1581824153
NM_001080.3(ALDH5A1):c.1273C>T (p.Leu425=)
NM_001080.3(ALDH5A1):c.1289A>G (p.Gln430Arg)
NM_001080.3(ALDH5A1):c.1294A>G (p.Met432Val) rs1561879315
NM_001080.3(ALDH5A1):c.1298T>G (p.Leu433Arg) rs1759857234
NM_001080.3(ALDH5A1):c.1308T>C (p.His436=) rs199500997
NM_001080.3(ALDH5A1):c.1319T>C (p.Phe440Ser) rs1759858234
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) rs1561879345
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser) rs750638943
NM_001080.3(ALDH5A1):c.1325C>G (p.Pro442Arg) rs2127389566
NM_001080.3(ALDH5A1):c.1335A>G (p.Pro445=) rs1401944994
NM_001080.3(ALDH5A1):c.1335A>T (p.Pro445=)
NM_001080.3(ALDH5A1):c.1338T>G (p.Val446=) rs2127389573
NM_001080.3(ALDH5A1):c.1343+11C>T
NM_001080.3(ALDH5A1):c.1343+15C>T rs2127389592
NM_001080.3(ALDH5A1):c.1343+19C>T
NM_001080.3(ALDH5A1):c.1343+20G>T
NM_001080.3(ALDH5A1):c.1343+4A>G rs1554137990
NM_001080.3(ALDH5A1):c.1343+8C>A rs775916984
NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn) rs2127389582
NM_001080.3(ALDH5A1):c.1344-3C>T
NM_001080.3(ALDH5A1):c.1344-4G>A
NM_001080.3(ALDH5A1):c.1344-7T>C
NM_001080.3(ALDH5A1):c.1350T>A (p.Asp450Glu) rs913676708
NM_001080.3(ALDH5A1):c.1351A>G (p.Thr451Ala)
NM_001080.3(ALDH5A1):c.1355AGG[2] (p.Glu454del) rs1759948859
NM_001080.3(ALDH5A1):c.1375G>A (p.Ala459Thr) rs749276622
NM_001080.3(ALDH5A1):c.1375G>T (p.Ala459Ser) rs749276622
NM_001080.3(ALDH5A1):c.1380C>T (p.Asn460=) rs1191466061
NM_001080.3(ALDH5A1):c.1390G>A (p.Val464Ile)
NM_001080.3(ALDH5A1):c.1391T>C (p.Val464Ala) rs1243219538
NM_001080.3(ALDH5A1):c.1398A>G (p.Leu466=) rs1554138222
NM_001080.3(ALDH5A1):c.1402+13C>T
NM_001080.3(ALDH5A1):c.1402+1G>A rs762290992
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001080.3(ALDH5A1):c.1402+2T>C
NM_001080.3(ALDH5A1):c.1403-10C>G
NM_001080.3(ALDH5A1):c.1403-6T>C
NM_001080.3(ALDH5A1):c.1432A>T (p.Ile478Phe)
NM_001080.3(ALDH5A1):c.1462G>T (p.Gly488Cys) rs1161171083
NM_001080.3(ALDH5A1):c.1465A>G (p.Met489Val)
NM_001080.3(ALDH5A1):c.1475T>C (p.Val492Ala) rs2127391187
NM_001080.3(ALDH5A1):c.1488A>G (p.Leu496=) rs2127391197
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu) rs999671766
NM_001080.3(ALDH5A1):c.1506_1521dup (p.Lys508fs) rs1759979356
NM_001080.3(ALDH5A1):c.1514G>A (p.Gly505Asp) rs1449304427
NM_001080.3(ALDH5A1):c.1515T>G (p.Gly505=) rs2127391207
NM_001080.3(ALDH5A1):c.1518A>T (p.Gly506=)
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe) rs578023593
NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter) rs748170674
NM_001080.3(ALDH5A1):c.1550C>G (p.Ser517Cys)
NM_001080.3(ALDH5A1):c.1551C>A (p.Ser517=)
NM_001080.3(ALDH5A1):c.1562T>C (p.Ile521Thr) rs1475837931
NM_001080.3(ALDH5A1):c.1569G>A (p.Glu523=) rs2127391231
NM_001080.3(ALDH5A1):c.1579C>T (p.Leu527Phe)
NM_001080.3(ALDH5A1):c.1580T>C (p.Leu527Pro) rs1467346651
NM_001080.3(ALDH5A1):c.1588G>A (p.Val530Met)
NM_001080.3(ALDH5A1):c.1590G>C (p.Val530=)
NM_001080.3(ALDH5A1):c.1591T>C (p.Cys531Arg) rs2127391249
NM_001080.3(ALDH5A1):c.1603T>A (p.Leu535Met)
NM_001080.3(ALDH5A1):c.1607A>T (p.Ter536Leu) rs1338198433
NM_001080.3(ALDH5A1):c.354+16T>G rs928290089
NM_001080.3(ALDH5A1):c.354+18C>T
NM_001080.3(ALDH5A1):c.354+19A>G
NM_001080.3(ALDH5A1):c.354+23_354+24dup
NM_001080.3(ALDH5A1):c.355-16G>A
NM_001080.3(ALDH5A1):c.355-18T>A
NM_001080.3(ALDH5A1):c.355-19C>T
NM_001080.3(ALDH5A1):c.355-20C>T
NM_001080.3(ALDH5A1):c.355-3C>T rs1759217851
NM_001080.3(ALDH5A1):c.355-6T>C rs1759214273
NM_001080.3(ALDH5A1):c.366A>G (p.Ser122=)
NM_001080.3(ALDH5A1):c.367T>C (p.Leu123=) rs1361924610
NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp) rs201082048
NM_001080.3(ALDH5A1):c.374_375insTGGTACAATTTAATGATAC (p.Arg125_Lys126insGlyThrIleTer)
NM_001080.3(ALDH5A1):c.375G>A (p.Arg125=)
NM_001080.3(ALDH5A1):c.375G>C (p.Arg125=)
NM_001080.3(ALDH5A1):c.377A>G (p.Lys126Arg) rs1759219662
NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs) rs2127382173
NM_001080.3(ALDH5A1):c.388T>C (p.Leu130=)
NM_001080.3(ALDH5A1):c.396A>T (p.Ile132=)
NM_001080.3(ALDH5A1):c.402T>C (p.Asn134=) rs777804457
NM_001080.3(ALDH5A1):c.410A>T (p.Asp137Val) rs2127382180
NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs) rs760542761
NM_001080.3(ALDH5A1):c.424del (p.Ile142fs)
NM_001080.3(ALDH5A1):c.438+11G>A
NM_001080.3(ALDH5A1):c.438+1G>A
NM_001080.3(ALDH5A1):c.439-11A>G rs2127382395
NM_001080.3(ALDH5A1):c.439-13T>C
NM_001080.3(ALDH5A1):c.439-18T>C
NM_001080.3(ALDH5A1):c.460C>T (p.His154Tyr) rs2127382406
NM_001080.3(ALDH5A1):c.464G>A (p.Gly155Glu) rs1554136421
NM_001080.3(ALDH5A1):c.474C>G (p.Leu158=)
NM_001080.3(ALDH5A1):c.518G>C (p.Arg173Pro)
NM_001080.3(ALDH5A1):c.518G>T (p.Arg173Leu) rs369366567
NM_001080.3(ALDH5A1):c.523T>C (p.Tyr175His)
NM_001080.3(ALDH5A1):c.534T>A (p.Ile178=) rs2127382448
NM_001080.3(ALDH5A1):c.539A>G (p.His180Arg)
NM_001080.3(ALDH5A1):c.544_545delinsGT (p.Pro182Val) rs2127382457
NM_001080.3(ALDH5A1):c.546G>A (p.Pro182=) rs779987239
NM_001080.3(ALDH5A1):c.562G>A (p.Ala188Thr) rs1287321413
NM_001080.3(ALDH5A1):c.564C>T (p.Ala188=)
NM_001080.3(ALDH5A1):c.565C>T (p.Leu189=) rs1064796918
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs) rs755029414
NM_001080.3(ALDH5A1):c.567G>C (p.Leu189=)
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=) rs145208127
NM_001080.3(ALDH5A1):c.609+15C>T rs1759252599
NM_001080.3(ALDH5A1):c.609+20A>G rs1759252699
NM_001080.3(ALDH5A1):c.610-12T>C
NM_001080.3(ALDH5A1):c.610-13C>T
NM_001080.3(ALDH5A1):c.610-17T>A
NM_001080.3(ALDH5A1):c.610-4C>G
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) rs1306678453
NM_001080.3(ALDH5A1):c.625G>A (p.Ala209Thr)
NM_001080.3(ALDH5A1):c.637C>T (p.Arg213Trp)
NM_001080.3(ALDH5A1):c.638G>A (p.Arg213Gln)
NM_001080.3(ALDH5A1):c.643G>A (p.Val215Met)
NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs) rs2127382929
NM_001080.3(ALDH5A1):c.663C>A (p.Ala221=) rs760461822
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
NM_001080.3(ALDH5A1):c.671C>A (p.Thr224Asn) rs2127382947
NM_001080.3(ALDH5A1):c.676G>C (p.Val226Leu)
NM_001080.3(ALDH5A1):c.676G>T (p.Val226Leu) rs770884090
NM_001080.3(ALDH5A1):c.678G>A (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.685C>A (p.Pro229Thr)
NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met)
NM_001080.3(ALDH5A1):c.699G>A (p.Thr233=)
NM_001080.3(ALDH5A1):c.702C>T (p.Pro234=) rs934316238
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr) rs62621664
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664
NM_001080.3(ALDH5A1):c.718C>G (p.Leu240Val) rs1759310167
NM_001080.3(ALDH5A1):c.726+11C>G
NM_001080.3(ALDH5A1):c.726+17G>T
NM_001080.3(ALDH5A1):c.726+7_726+8delinsAA
NM_001080.3(ALDH5A1):c.727-15_727-14inv
NM_001080.3(ALDH5A1):c.727-18_733del
NM_001080.3(ALDH5A1):c.753A>C (p.Ser251=)
NM_001080.3(ALDH5A1):c.758T>C (p.Val253Ala) rs1201676111
NM_001080.3(ALDH5A1):c.760T>C (p.Tyr254His) rs2127385849
NM_001080.3(ALDH5A1):c.761A>G (p.Tyr254Cys) rs749228768
NM_001080.3(ALDH5A1):c.762del (p.Val253_Tyr254insTer)
NM_001080.3(ALDH5A1):c.763A>C (p.Asn255His) rs2127385854
NM_001080.3(ALDH5A1):c.765dup (p.Val256fs)
NM_001080.3(ALDH5A1):c.768T>C (p.Val256=)
NM_001080.3(ALDH5A1):c.782G>A (p.Arg261Gln) rs772361710
NM_001080.3(ALDH5A1):c.799G>T (p.Val267Leu) rs1759546145
NM_001080.3(ALDH5A1):c.820G>C (p.Asp274His)
NM_001080.3(ALDH5A1):c.826C>G (p.Leu276Val)
NM_001080.3(ALDH5A1):c.844T>G (p.Phe282Val) rs2127385891
NM_001080.3(ALDH5A1):c.852T>C (p.Gly284=)
NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter) rs2127385894
NM_001080.3(ALDH5A1):c.855A>G (p.Ser285=) rs1759548147
NM_001080.3(ALDH5A1):c.870+15T>C rs2127385913
NM_001080.3(ALDH5A1):c.870+4T>A rs1447034711
NM_001080.3(ALDH5A1):c.870+8A>T
NM_001080.3(ALDH5A1):c.870+9C>T rs1314010241
NM_001080.3(ALDH5A1):c.871-11T>C
NM_001080.3(ALDH5A1):c.871-19T>C
NM_001080.3(ALDH5A1):c.871-6T>C rs1399527090
NM_001080.3(ALDH5A1):c.881A>C (p.His294Pro) rs771163119
NM_001080.3(ALDH5A1):c.896C>A (p.Ser299Tyr) rs2127387282
NM_001080.3(ALDH5A1):c.896_897del (p.Ser299fs) rs2127387279
NM_001080.3(ALDH5A1):c.897T>C (p.Ser299=) rs533586467
NM_001080.3(ALDH5A1):c.913A>G (p.Met305Val)
NM_001080.3(ALDH5A1):c.921G>C (p.Leu307=)
NM_001080.3(ALDH5A1):c.929T>G (p.Leu310Arg)
NM_001080.3(ALDH5A1):c.932C>G (p.Ala311Gly) rs752467613
NM_001080.3(ALDH5A1):c.934C>G (p.Pro312Ala)
NM_001080.3(ALDH5A1):c.936A>G (p.Pro312=)
NM_001080.3(ALDH5A1):c.943G>A (p.Val315Ile)
NM_001080.3(ALDH5A1):c.959A>G (p.Asn320Ser) rs570262377
NM_001080.3(ALDH5A1):c.966C>T (p.Asp322=)
NM_001080.3(ALDH5A1):c.971C>T (p.Ala324Val) rs1759659944
NM_001080.3(ALDH5A1):c.983C>T (p.Ala328Val) rs1043375819
NM_001080.3(ALDH5A1):c.985A>G (p.Met329Val) rs1581818516

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