ClinVar Miner

List of variants studied for 5-oxoprolinase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.3027C>T (p.Ala1009=) rs11136253 0.99656
NM_017570.5(OPLAH):c.850A>C (p.Ser284Arg) rs3935209 0.21869
NM_017570.5(OPLAH):c.1836T>C (p.Phe612=) rs11993554 0.15837
NM_017570.5(OPLAH):c.12C>G (p.Pro4=) rs7003860 0.14109
NM_017570.5(OPLAH):c.92G>A (p.Arg31Gln) rs7004867 0.08180
NM_017570.5(OPLAH):c.222C>T (p.Ile74=) rs6558292 0.06128
NM_017570.5(OPLAH):c.1578C>T (p.Asp526=) rs72695427 0.05544
NM_017570.5(OPLAH):c.1018G>A (p.Val340Ile) rs55916375 0.05428
NM_017570.5(OPLAH):c.2151C>T (p.Ile717=) rs115894989 0.05162
NM_017570.5(OPLAH):c.2636C>T (p.Ala879Val) rs61743013 0.04434
NM_017570.5(OPLAH):c.3721-20del rs148937107 0.03336
NM_017570.5(OPLAH):c.2832C>T (p.Tyr944=) rs61732533 0.03206
NM_017570.5(OPLAH):c.3462-9C>T rs148291810 0.02230
NM_017570.5(OPLAH):c.1750G>T (p.Gly584Cys) rs10107332 0.01535
NM_017570.5(OPLAH):c.1375C>T (p.Arg459Cys) rs117057524 0.01100
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=) rs61740339 0.00958
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_017570.5(OPLAH):c.3720+8C>T rs374770909 0.00674
NM_017570.5(OPLAH):c.1502G>A (p.Arg501Gln) rs78071726 0.00484
NM_017570.5(OPLAH):c.805C>T (p.Arg269Cys) rs201078986 0.00434
NM_017570.5(OPLAH):c.402G>A (p.Leu134=) rs200748510 0.00423
NM_017570.5(OPLAH):c.443G>C (p.Gly148Ala) rs111254751 0.00403
NM_017570.5(OPLAH):c.171+6C>A rs117389174 0.00370
NM_017570.5(OPLAH):c.471G>A (p.Thr157=) rs145079111 0.00324
NM_017570.5(OPLAH):c.1921C>T (p.Arg641Cys) rs150735438 0.00296
NM_017570.5(OPLAH):c.2163G>T (p.Val721=) rs369464657 0.00294
NM_017570.5(OPLAH):c.1633G>A (p.Val545Met) rs116776822 0.00272
NM_017570.5(OPLAH):c.2792A>G (p.Gln931Arg) rs200702041 0.00262
NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg) rs11777194 0.00176
NM_017570.5(OPLAH):c.949+12G>A rs142819774 0.00156
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=) rs186192116 0.00142
NM_017570.5(OPLAH):c.154C>T (p.Arg52Cys) rs182298526 0.00140
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=) rs370115329 0.00121
NM_017570.5(OPLAH):c.1318A>G (p.Asn440Asp) rs200098915 0.00111
NM_017570.5(OPLAH):c.1089-5C>T rs77001213 0.00106
NM_017570.5(OPLAH):c.2097-8C>T rs376189869 0.00099
NM_017570.5(OPLAH):c.1918G>A (p.Gly640Ser) rs201454549 0.00095
NM_017570.5(OPLAH):c.1501C>T (p.Arg501Trp) rs147294871 0.00078
NM_017570.5(OPLAH):c.2523G>A (p.Pro841=) rs187500280 0.00073
NM_017570.5(OPLAH):c.1933C>T (p.Arg645Cys) rs201475103 0.00056
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) rs144920839 0.00054
NM_017570.5(OPLAH):c.2096+8G>A rs372984548 0.00053
NM_017570.5(OPLAH):c.2512-7C>A rs541135459 0.00050
NM_017570.5(OPLAH):c.2880T>G (p.Ala960=) rs372144482 0.00047
NM_017570.5(OPLAH):c.36C>T (p.Ile12=) rs532622317 0.00045
NM_017570.5(OPLAH):c.158G>A (p.Arg53His) rs370049811 0.00042
NM_017570.5(OPLAH):c.1039C>G (p.Leu347Val) rs181530163 0.00037
NM_017570.5(OPLAH):c.1973G>T (p.Arg658Leu) rs148181675 0.00036
NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val) rs202100905 0.00027
NM_017570.5(OPLAH):c.145G>A (p.Glu49Lys) rs782616822 0.00026
NM_017570.5(OPLAH):c.573C>G (p.Leu191=) rs375794631 0.00025
NM_017570.5(OPLAH):c.2048G>T (p.Gly683Val) rs559740801 0.00024
NM_017570.5(OPLAH):c.2693C>T (p.Thr898Met) rs199829912 0.00024
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=) rs373638784 0.00020
NM_017570.5(OPLAH):c.734T>C (p.Ile245Thr) rs556057842 0.00017
NM_017570.5(OPLAH):c.1424C>T (p.Ala475Val) rs374935079 0.00015
NM_017570.5(OPLAH):c.3808C>T (p.Leu1270=) rs776933028 0.00015
NM_017570.5(OPLAH):c.3820G>A (p.Glu1274Lys) rs371840526 0.00014
NM_017570.5(OPLAH):c.714C>T (p.Asp238=) rs372974283 0.00014
NM_017570.5(OPLAH):c.209A>C (p.Asp70Ala) rs371222393 0.00012
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=) rs373169020 0.00011
NM_017570.5(OPLAH):c.430C>T (p.Arg144Cys) rs782533601 0.00011
NM_017570.5(OPLAH):c.1754C>T (p.Thr585Met) rs370157218 0.00010
NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=) rs201482072 0.00010
NM_017570.5(OPLAH):c.2568C>T (p.His856=) rs377155890 0.00009
NM_017570.5(OPLAH):c.1850T>C (p.Met617Thr) rs370801470 0.00008
NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp) rs782702109 0.00008
NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln) rs554854985 0.00007
NM_017570.5(OPLAH):c.135C>T (p.Asp45=) rs373510142 0.00006
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=) rs369897941 0.00006
NM_017570.5(OPLAH):c.2273G>A (p.Arg758His) rs200773486 0.00006
NM_017570.5(OPLAH):c.3019-11G>A rs562417499 0.00006
NM_017570.5(OPLAH):c.313_316del (p.Arg105fs) rs782750497 0.00006
NM_017570.5(OPLAH):c.1030G>A (p.Ala344Thr) rs199914741 0.00005
NM_017570.5(OPLAH):c.212C>G (p.Ser71Cys) rs782130905 0.00005
NM_017570.5(OPLAH):c.2367C>T (p.Ile789=) rs1304694945 0.00005
NM_017570.5(OPLAH):c.271C>T (p.Arg91Trp) rs575947480 0.00005
NM_017570.5(OPLAH):c.1046T>G (p.Ile349Ser) rs782468679 0.00004
NM_017570.5(OPLAH):c.2512-6C>T rs532077880 0.00004
NM_017570.5(OPLAH):c.463+15G>A rs369287805 0.00004
NM_017570.5(OPLAH):c.1438C>T (p.Pro480Ser) rs782479445 0.00003
NM_017570.5(OPLAH):c.1674T>G (p.Cys558Trp) rs1234462205 0.00003
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=) rs782559583 0.00003
NM_017570.5(OPLAH):c.646G>A (p.Val216Met) rs374238208 0.00003
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu) rs781785267 0.00003
NM_017570.5(OPLAH):c.1128C>G (p.Ala376=) rs782052817 0.00002
NM_017570.5(OPLAH):c.1300G>A (p.Val434Ile) rs536115347 0.00002
NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu) rs782808832 0.00002
NM_017570.5(OPLAH):c.187C>T (p.Leu63=) rs782424960 0.00002
NM_017570.5(OPLAH):c.1884G>A (p.Pro628=) rs373083081 0.00002
NM_017570.5(OPLAH):c.1939G>A (p.Glu647Lys) rs371821782 0.00002
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys) rs371837669 0.00002
NM_017570.5(OPLAH):c.2957C>T (p.Ser986Leu) rs1332726078 0.00002
NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys) rs568623659 0.00001
NM_017570.5(OPLAH):c.11C>T (p.Pro4Leu) rs1461320056 0.00001
NM_017570.5(OPLAH):c.1265C>T (p.Ala422Val) rs375526531 0.00001
NM_017570.5(OPLAH):c.136G>A (p.Ala46Thr) rs781819330 0.00001
NM_017570.5(OPLAH):c.137C>T (p.Ala46Val) rs782757072 0.00001
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=) rs782608385 0.00001
NM_017570.5(OPLAH):c.1806G>A (p.Ser602=) rs782390629 0.00001
NM_017570.5(OPLAH):c.1909C>T (p.Arg637Trp) rs782125024 0.00001
NM_017570.5(OPLAH):c.210C>T (p.Asp70=) rs781951821 0.00001
NM_017570.5(OPLAH):c.2231G>A (p.Arg744His) rs565620541 0.00001
NM_017570.5(OPLAH):c.2302C>T (p.Arg768Cys) rs939343558 0.00001
NM_017570.5(OPLAH):c.2557C>T (p.Arg853Ter) rs543486699 0.00001
NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg) rs374235442 0.00001
NM_017570.5(OPLAH):c.290C>T (p.Ala97Val) rs781965027 0.00001
NM_017570.5(OPLAH):c.2927A>C (p.Gln976Pro) rs1235708168 0.00001
NM_017570.5(OPLAH):c.2973C>G (p.Asp991Glu) rs782051228 0.00001
NM_017570.5(OPLAH):c.2995C>G (p.Arg999Gly) rs1471350813 0.00001
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter) rs782331682 0.00001
NM_017570.5(OPLAH):c.3394G>A (p.Gly1132Arg) rs782653195 0.00001
NM_017570.5(OPLAH):c.3518G>T (p.Arg1173Leu) rs782094303 0.00001
NM_017570.5(OPLAH):c.587+1G>A rs1272869557 0.00001
NM_017570.5(OPLAH):c.672C>T (p.Pro224=) rs368105559 0.00001
NM_017570.5(OPLAH):c.816C>T (p.Gly272=) rs533428247 0.00001
NM_017570.5(OPLAH):c.861C>T (p.Leu287=) rs781841221 0.00001
NM_017570.5(OPLAH):c.104T>G (p.Leu35Arg)
NM_017570.5(OPLAH):c.1050C>T (p.Asn350=)
NM_017570.5(OPLAH):c.1091C>G (p.Ser364Cys) rs980100537
NM_017570.5(OPLAH):c.1094G>C (p.Gly365Ala)
NM_017570.5(OPLAH):c.1113C>T (p.Pro371=)
NM_017570.5(OPLAH):c.1114G>A (p.Glu372Lys)
NM_017570.5(OPLAH):c.1137A>G (p.Gly379=)
NM_017570.5(OPLAH):c.1140C>T (p.Pro380=)
NM_017570.5(OPLAH):c.1149C>T (p.Tyr383=)
NM_017570.5(OPLAH):c.1156+15C>T
NM_017570.5(OPLAH):c.1156+4A>G
NM_017570.5(OPLAH):c.1156G>T (p.Gly386Trp)
NM_017570.5(OPLAH):c.1199G>A (p.Arg400His)
NM_017570.5(OPLAH):c.1244A>C (p.Asn415Thr) rs2129817333
NM_017570.5(OPLAH):c.1258C>T (p.Pro420Ser) rs1564292461
NM_017570.5(OPLAH):c.1278C>T (p.Ala426=)
NM_017570.5(OPLAH):c.1320C>T (p.Asn440=)
NM_017570.5(OPLAH):c.1331C>T (p.Pro444Leu)
NM_017570.5(OPLAH):c.1347C>A (p.Ser449Arg)
NM_017570.5(OPLAH):c.1363A>G (p.Met455Val)
NM_017570.5(OPLAH):c.1376G>A (p.Arg459His)
NM_017570.5(OPLAH):c.1377C>T (p.Arg459=)
NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser) rs782662415
NM_017570.5(OPLAH):c.1409G>A (p.Arg470His)
NM_017570.5(OPLAH):c.1414C>T (p.Leu472Phe)
NM_017570.5(OPLAH):c.1418C>T (p.Thr473Met)
NM_017570.5(OPLAH):c.1422+16C>T
NM_017570.5(OPLAH):c.1423-5C>T
NM_017570.5(OPLAH):c.1431C>T (p.Gly477=)
NM_017570.5(OPLAH):c.1455G>A (p.Leu485=)
NM_017570.5(OPLAH):c.147A>G (p.Glu49=) rs2129848675
NM_017570.5(OPLAH):c.1513A>G (p.Met505Val)
NM_017570.5(OPLAH):c.1521G>A (p.Thr507=)
NM_017570.5(OPLAH):c.1527C>T (p.His509=)
NM_017570.5(OPLAH):c.1535+16G>A
NM_017570.5(OPLAH):c.1535+3G>T
NM_017570.5(OPLAH):c.1561G>A (p.Gly521Arg)
NM_017570.5(OPLAH):c.157C>T (p.Arg53Cys) rs200381383
NM_017570.5(OPLAH):c.1584G>A (p.Val528=)
NM_017570.5(OPLAH):c.1600C>T (p.Pro534Ser)
NM_017570.5(OPLAH):c.1652T>G (p.Leu551Arg) rs2129808075
NM_017570.5(OPLAH):c.1652del (p.Leu551fs)
NM_017570.5(OPLAH):c.1658G>A (p.Arg553His)
NM_017570.5(OPLAH):c.1667A>G (p.Glu556Gly)
NM_017570.5(OPLAH):c.1680T>G (p.Asp560Glu) rs1564291499
NM_017570.5(OPLAH):c.1690_1706+6dup
NM_017570.5(OPLAH):c.169C>T (p.Gln57Ter)
NM_017570.5(OPLAH):c.171+12C>T
NM_017570.5(OPLAH):c.171+13G>A
NM_017570.5(OPLAH):c.172-5C>T
NM_017570.5(OPLAH):c.1731C>T (p.Phe577=)
NM_017570.5(OPLAH):c.1802G>A (p.Arg601His)
NM_017570.5(OPLAH):c.1824C>T (p.Phe608=)
NM_017570.5(OPLAH):c.1843C>T (p.Arg615Trp)
NM_017570.5(OPLAH):c.1844+18T>G
NM_017570.5(OPLAH):c.1844+8G>C
NM_017570.5(OPLAH):c.1845-14C>T
NM_017570.5(OPLAH):c.1845-20G>A
NM_017570.5(OPLAH):c.1862G>T (p.Gly621Val)
NM_017570.5(OPLAH):c.1880G>A (p.Arg627Gln)
NM_017570.5(OPLAH):c.1883C>T (p.Pro628Leu)
NM_017570.5(OPLAH):c.1897G>A (p.Asp633Asn)
NM_017570.5(OPLAH):c.1924A>T (p.Ser642Cys)
NM_017570.5(OPLAH):c.193C>G (p.Arg65Gly) rs782494513
NM_017570.5(OPLAH):c.1962C>T (p.Thr654=) rs782092076
NM_017570.5(OPLAH):c.1963G>A (p.Gly655Arg)
NM_017570.5(OPLAH):c.1971C>T (p.Pro657=)
NM_017570.5(OPLAH):c.2004G>A (p.Glu668=)
NM_017570.5(OPLAH):c.2007G>C (p.Gly669=)
NM_017570.5(OPLAH):c.203C>T (p.Pro68Leu) rs540750311
NM_017570.5(OPLAH):c.2043G>A (p.Glu681=)
NM_017570.5(OPLAH):c.204G>A (p.Pro68=)
NM_017570.5(OPLAH):c.206_251dup (p.Thr85fs)
NM_017570.5(OPLAH):c.2076C>A (p.Cys692Ter) rs781977956
NM_017570.5(OPLAH):c.2096+15G>A
NM_017570.5(OPLAH):c.2097-20C>G
NM_017570.5(OPLAH):c.2190C>T (p.Gly730=)
NM_017570.5(OPLAH):c.2232C>G (p.Arg744=)
NM_017570.5(OPLAH):c.2238G>A (p.Met746Ile)
NM_017570.5(OPLAH):c.2248+11G>A
NM_017570.5(OPLAH):c.2260C>T (p.Arg754Cys) rs201623019
NM_017570.5(OPLAH):c.2281A>G (p.Ile761Val)
NM_017570.5(OPLAH):c.2334C>T (p.Pro778=)
NM_017570.5(OPLAH):c.2338G>A (p.Gly780Arg)
NM_017570.5(OPLAH):c.2344C>A (p.Leu782Met)
NM_017570.5(OPLAH):c.235A>C (p.Met79Leu)
NM_017570.5(OPLAH):c.2362dup (p.His788fs)
NM_017570.5(OPLAH):c.2442C>T (p.Gly814=)
NM_017570.5(OPLAH):c.2454G>T (p.Leu818=)
NM_017570.5(OPLAH):c.2510C>T (p.Pro837Leu)
NM_017570.5(OPLAH):c.2512-19G>A
NM_017570.5(OPLAH):c.2512-5G>A
NM_017570.5(OPLAH):c.2514G>A (p.Val838=)
NM_017570.5(OPLAH):c.2534G>A (p.Arg845Gln)
NM_017570.5(OPLAH):c.2534G>C (p.Arg845Pro)
NM_017570.5(OPLAH):c.2539G>A (p.Val847Met)
NM_017570.5(OPLAH):c.2588C>T (p.Thr863Ile)
NM_017570.5(OPLAH):c.2608dup (p.His870fs) rs781956288
NM_017570.5(OPLAH):c.2665G>A (p.Gly889Arg)
NM_017570.5(OPLAH):c.2669G>C (p.Gly890Ala) rs781927871
NM_017570.5(OPLAH):c.2669del (p.Gly890fs)
NM_017570.5(OPLAH):c.2677C>T (p.Gln893Ter)
NM_017570.5(OPLAH):c.2686+1G>T
NM_017570.5(OPLAH):c.2687C>T (p.Ala896Val)
NM_017570.5(OPLAH):c.2705G>A (p.Arg902Gln)
NM_017570.5(OPLAH):c.2722C>T (p.Pro908Ser)
NM_017570.5(OPLAH):c.2728T>A (p.Cys910Ser) rs2129764172
NM_017570.5(OPLAH):c.2733C>T (p.Ser911=)
NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys) rs147874057
NM_017570.5(OPLAH):c.2841C>T (p.Asp947=)
NM_017570.5(OPLAH):c.2871+13A>C
NM_017570.5(OPLAH):c.2872-4C>T
NM_017570.5(OPLAH):c.2905C>T (p.Arg969Cys)
NM_017570.5(OPLAH):c.2952G>A (p.Val984=)
NM_017570.5(OPLAH):c.2975A>C (p.Asp992Ala)
NM_017570.5(OPLAH):c.2981C>T (p.Ser994Phe)
NM_017570.5(OPLAH):c.2987dup (p.Arg997fs) rs781818673
NM_017570.5(OPLAH):c.2989C>T (p.Arg997Cys) rs200620019
NM_017570.5(OPLAH):c.3018+18T>C
NM_017570.5(OPLAH):c.3019-14C>T
NM_017570.5(OPLAH):c.3019-2A>G
NM_017570.5(OPLAH):c.3036C>T (p.Asp1012=)
NM_017570.5(OPLAH):c.3117G>T (p.Leu1039=)
NM_017570.5(OPLAH):c.3154-12C>T
NM_017570.5(OPLAH):c.3154-20G>T
NM_017570.5(OPLAH):c.3164C>T (p.Ala1055Val)
NM_017570.5(OPLAH):c.3165G>A (p.Ala1055=) rs28428956
NM_017570.5(OPLAH):c.3177G>C (p.Val1059=)
NM_017570.5(OPLAH):c.3249_3250delinsTT (p.Gln1084Ter)
NM_017570.5(OPLAH):c.3254G>C (p.Arg1085Pro)
NM_017570.5(OPLAH):c.3278C>T (p.Ala1093Val)
NM_017570.5(OPLAH):c.3303+9G>T
NM_017570.5(OPLAH):c.3304-10C>T
NM_017570.5(OPLAH):c.3304-11G>A
NM_017570.5(OPLAH):c.3311T>C (p.Met1104Thr)
NM_017570.5(OPLAH):c.3327G>A (p.Leu1109=)
NM_017570.5(OPLAH):c.3352G>C (p.Glu1118Gln) rs1426386645
NM_017570.5(OPLAH):c.3362C>A (p.Ala1121Glu)
NM_017570.5(OPLAH):c.3372G>A (p.Ala1124=)
NM_017570.5(OPLAH):c.3461+15C>T
NM_017570.5(OPLAH):c.3461+17G>A
NM_017570.5(OPLAH):c.3462-4G>A
NM_017570.5(OPLAH):c.3508G>A (p.Gly1170Ser)
NM_017570.5(OPLAH):c.3512G>C (p.Arg1171Thr) rs2129743421
NM_017570.5(OPLAH):c.3516C>A (p.Gly1172=)
NM_017570.5(OPLAH):c.3518G>A (p.Arg1173His) rs782094303
NM_017570.5(OPLAH):c.3558T>C (p.Phe1186=)
NM_017570.5(OPLAH):c.3559C>T (p.Arg1187Cys)
NM_017570.5(OPLAH):c.35T>C (p.Ile12Thr) rs2129850356
NM_017570.5(OPLAH):c.3612C>G (p.Tyr1204Ter)
NM_017570.5(OPLAH):c.3623-13C>G
NM_017570.5(OPLAH):c.363+3G>A
NM_017570.5(OPLAH):c.3640C>T (p.Arg1214Cys)
NM_017570.5(OPLAH):c.370C>T (p.Pro124Ser)
NM_017570.5(OPLAH):c.3717C>T (p.Pro1239=)
NM_017570.5(OPLAH):c.3721-11del
NM_017570.5(OPLAH):c.3721-11dup rs782568024
NM_017570.5(OPLAH):c.3721-12C>G
NM_017570.5(OPLAH):c.3721-13C>T rs782765595
NM_017570.5(OPLAH):c.3721-15C>A
NM_017570.5(OPLAH):c.3721-16C>G rs566592895
NM_017570.5(OPLAH):c.3721-20G>C rs28433482
NM_017570.5(OPLAH):c.3721-20_3721-18del rs782715961
NM_017570.5(OPLAH):c.3721-20_3721-19del rs781891990
NM_017570.5(OPLAH):c.3745G>C (p.Gly1249Arg)
NM_017570.5(OPLAH):c.3753T>C (p.Gly1251=) rs1587548662
NM_017570.5(OPLAH):c.378T>G (p.Pro126=) rs1587567078
NM_017570.5(OPLAH):c.3822G>A (p.Glu1274=)
NM_017570.5(OPLAH):c.3823C>T (p.His1275Tyr)
NM_017570.5(OPLAH):c.3831C>T (p.Ser1277=)
NM_017570.5(OPLAH):c.415C>T (p.Arg139Cys)
NM_017570.5(OPLAH):c.447C>T (p.Thr149=)
NM_017570.5(OPLAH):c.453G>A (p.Thr151=)
NM_017570.5(OPLAH):c.463+14C>T
NM_017570.5(OPLAH):c.463G>A (p.Gly155Ser)
NM_017570.5(OPLAH):c.466C>T (p.Arg156Cys)
NM_017570.5(OPLAH):c.491A>G (p.Gln164Arg)
NM_017570.5(OPLAH):c.493C>T (p.Gln165Ter) rs1835598414
NM_017570.5(OPLAH):c.501G>T (p.Val167=)
NM_017570.5(OPLAH):c.533G>A (p.Gly178Glu)
NM_017570.5(OPLAH):c.540A>G (p.Leu180=)
NM_017570.5(OPLAH):c.553C>T (p.Arg185Cys)
NM_017570.5(OPLAH):c.554G>T (p.Arg185Leu)
NM_017570.5(OPLAH):c.567G>A (p.Val189=)
NM_017570.5(OPLAH):c.587+10G>A
NM_017570.5(OPLAH):c.654G>A (p.Leu218=)
NM_017570.5(OPLAH):c.684C>T (p.Ile228=)
NM_017570.5(OPLAH):c.702G>A (p.Thr234=)
NM_017570.5(OPLAH):c.711C>T (p.Ala237=)
NM_017570.5(OPLAH):c.718T>C (p.Tyr240His)
NM_017570.5(OPLAH):c.730G>A (p.Ala244Thr)
NM_017570.5(OPLAH):c.744C>T (p.Tyr248=)
NM_017570.5(OPLAH):c.783+14G>C
NM_017570.5(OPLAH):c.784-20C>T
NM_017570.5(OPLAH):c.784-9C>T
NM_017570.5(OPLAH):c.810C>T (p.Ser270=)
NM_017570.5(OPLAH):c.811G>A (p.Asp271Asn)
NM_017570.5(OPLAH):c.843C>G (p.Ser281Arg) rs549502677
NM_017570.5(OPLAH):c.843C>T (p.Ser281=)
NM_017570.5(OPLAH):c.859C>T (p.Leu287Phe)
NM_017570.5(OPLAH):c.863C>T (p.Ser288Leu)
NM_017570.5(OPLAH):c.864G>A (p.Ser288=)
NM_017570.5(OPLAH):c.869C>T (p.Pro290Leu)
NM_017570.5(OPLAH):c.870G>A (p.Pro290=)
NM_017570.5(OPLAH):c.874G>A (p.Gly292Ser)
NM_017570.5(OPLAH):c.876C>T (p.Gly292=)
NM_017570.5(OPLAH):c.893C>G (p.Ser298Ter) rs1554759918
NM_017570.5(OPLAH):c.902C>G (p.Thr301Ser)
NM_017570.5(OPLAH):c.928G>C (p.Val310Leu) rs782711808
NM_017570.5(OPLAH):c.934G>A (p.Gly312Ser)
NM_017570.5(OPLAH):c.950-17C>T
NM_017570.5(OPLAH):c.960G>T (p.Thr320=) rs375010602
NM_017570.5(OPLAH):c.969C>A (p.Ser323Arg) rs398122906
NM_017570.5(OPLAH):c.988G>A (p.Glu330Lys)

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