ClinVar Miner

List of variants in gene PLOD1 studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 907
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_000302.4(PLOD1):c.644-17T>G rs41307745 0.04239
NM_000302.4(PLOD1):c.*440G>C rs11553681 0.03198
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000302.4(PLOD1):c.1329-20G>A rs78527487 0.02519
NM_000302.4(PLOD1):c.*71C>G rs2230899 0.02327
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000302.3(PLOD1):c.-77G>A rs144465849 0.00649
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_000302.4(PLOD1):c.76+17C>T rs113691754 0.00498
NM_000302.4(PLOD1):c.*614G>T rs15431 0.00472
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000302.4(PLOD1):c.1902+13G>A rs199765551 0.00259
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176 0.00170
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_000302.4(PLOD1):c.2028+8G>T rs181951731 0.00092
NM_000302.4(PLOD1):c.843+17G>C rs201244598 0.00086
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_000302.4(PLOD1):c.776G>A (p.Arg259His) rs144226170 0.00076
NM_000302.4(PLOD1):c.976-16C>T rs142329815 0.00073
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796 0.00058
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=) rs139165192 0.00052
NM_000302.4(PLOD1):c.1584+17C>T rs200962113 0.00052
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr) rs565765056 0.00045
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=) rs139468110 0.00034
NM_000302.4(PLOD1):c.608G>A (p.Arg203His) rs145482271 0.00034
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011 0.00032
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387 0.00030
NM_000302.4(PLOD1):c.1471-9C>G rs376476977 0.00029
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000302.4(PLOD1):c.1471-8C>T rs201661871 0.00023
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280 0.00021
NM_000302.4(PLOD1):c.303-16G>A rs369132980 0.00021
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met) rs748526375 0.00019
NM_000302.4(PLOD1):c.411G>A (p.Arg137=) rs151122664 0.00019
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val) rs144702307 0.00017
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp) rs150852515 0.00016
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=) rs139230801 0.00015
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val) rs147924545 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000302.4(PLOD1):c.2028+17C>T rs373318413 0.00014
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.644-11C>T rs375303994 0.00013
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr) rs199669594 0.00013
NM_000302.4(PLOD1):c.843+10C>T rs149399201 0.00013
NM_000302.4(PLOD1):c.853C>T (p.Leu285=) rs370663808 0.00013
NM_000302.4(PLOD1):c.975+14G>A rs371184529 0.00013
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr) rs143604754 0.00012
NM_000302.4(PLOD1):c.2181C>T (p.Pro727=) rs140741046 0.00012
NM_000302.4(PLOD1):c.1608C>T (p.His536=) rs138289419 0.00011
NM_000302.4(PLOD1):c.678G>A (p.Val226=) rs371007185 0.00011
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927 0.00010
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys) rs750301725 0.00010
NM_000302.4(PLOD1):c.*721T>G rs142707437 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686 0.00009
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met) rs752708558 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000302.4(PLOD1):c.643+15C>T rs376661744 0.00008
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly) rs377497101 0.00007
NM_000302.4(PLOD1):c.1218G>A (p.Pro406=) rs754812888 0.00007
NM_000302.4(PLOD1):c.1903-5T>A rs776128914 0.00007
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535 0.00007
NM_000302.4(PLOD1):c.579+16C>T rs552192756 0.00007
NM_000302.4(PLOD1):c.*128A>G rs927504122 0.00006
NM_000302.4(PLOD1):c.*528G>A rs886045215 0.00006
NM_000302.4(PLOD1):c.1651-8C>T rs191817164 0.00006
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val) rs142916043 0.00006
NM_000302.4(PLOD1):c.276G>A (p.Glu92=) rs768169776 0.00006
NM_000302.4(PLOD1):c.534C>T (p.Ser178=) rs113384442 0.00006
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu) rs375416784 0.00006
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val) rs756600025 0.00006
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser) rs538763801 0.00006
NM_000302.4(PLOD1):c.77-7T>C rs371488160 0.00006
NM_000302.4(PLOD1):c.874G>A (p.Val292Met) rs143114026 0.00006
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp) rs11553674 0.00006
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln) rs370305686 0.00005
NM_000302.4(PLOD1):c.1071G>A (p.Ala357=) rs374036329 0.00005
NM_000302.4(PLOD1):c.1202+3G>A rs370358836 0.00005
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys) rs763672034 0.00005
NM_000302.4(PLOD1):c.1470+14G>A rs761691961 0.00005
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124 0.00005
NM_000302.4(PLOD1):c.870C>T (p.Val290=) rs373082170 0.00005
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln) rs992278231 0.00005
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr) rs141881216 0.00005
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp) rs959635301 0.00005
NM_000302.3(PLOD1):c.-64C>G rs886045195 0.00004
NM_000302.4(PLOD1):c.1026C>T (p.Ser342=) rs140159343 0.00004
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.1302C>T (p.Tyr434=) rs759448456 0.00004
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511 0.00004
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311 0.00004
NM_000302.4(PLOD1):c.1471-18C>T rs368968576 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000302.4(PLOD1):c.1629G>C (p.Leu543=) rs764355890 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met) rs770120389 0.00004
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937 0.00004
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767 0.00004
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381 0.00004
NM_000302.4(PLOD1):c.30G>C (p.Leu10=) rs886039113 0.00004
NM_000302.4(PLOD1):c.438C>T (p.Ser146=) rs765725567 0.00004
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343 0.00004
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346 0.00004
NM_000302.4(PLOD1):c.742-5G>A rs746658625 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000302.4(PLOD1):c.930G>A (p.Arg310=) rs751800110 0.00004
NM_000302.4(PLOD1):c.975C>T (p.His325=) rs761576315 0.00004
NM_000302.4(PLOD1):c.*148C>G rs886045211 0.00003
NM_000302.4(PLOD1):c.-39G>T rs769995450 0.00003
NM_000302.4(PLOD1):c.1098-3C>T rs541901674 0.00003
NM_000302.4(PLOD1):c.1110G>A (p.Arg370=) rs148644646 0.00003
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=) rs771685198 0.00003
NM_000302.4(PLOD1):c.1194A>G (p.Gln398=) rs755978483 0.00003
NM_000302.4(PLOD1):c.1197G>A (p.Gln399=) rs753853335 0.00003
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893 0.00003
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys) rs370790682 0.00003
NM_000302.4(PLOD1):c.1293C>T (p.Ser431=) rs776976856 0.00003
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys) rs138698098 0.00003
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828 0.00003
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val) rs369696269 0.00003
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp) rs748646169 0.00003
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290 0.00003
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648 0.00003
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492 0.00003
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile) rs370498584 0.00003
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys) rs754650948 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.336G>A (p.Glu112=) rs746999816 0.00003
NM_000302.4(PLOD1):c.407G>A (p.Arg136His) rs148510973 0.00003
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys) rs780519821 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000302.4(PLOD1):c.684G>A (p.Ala228=) rs183225496 0.00003
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756 0.00003
NM_000302.4(PLOD1):c.774G>A (p.Pro258=) rs753994916 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577 0.00003
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079 0.00003
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=) rs755056846 0.00002
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val) rs763906693 0.00002
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met) rs371223839 0.00002
NM_000302.4(PLOD1):c.1202+7C>T rs1264171984 0.00002
NM_000302.4(PLOD1):c.128G>A (p.Arg43His) rs141704997 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000302.4(PLOD1):c.1554C>T (p.Asn518=) rs759491848 0.00002
NM_000302.4(PLOD1):c.1651-10C>T rs755961387 0.00002
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln) rs150184664 0.00002
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu) rs1485759254 0.00002
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser) rs761352524 0.00002
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser) rs764750668 0.00002
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln) rs1282397747 0.00002
NM_000302.4(PLOD1):c.2013C>T (p.Val671=) rs541261242 0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897 0.00002
NM_000302.4(PLOD1):c.302+5G>A rs749607584 0.00002
NM_000302.4(PLOD1):c.310G>A (p.Val104Met) rs141809154 0.00002
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr) rs1156606108 0.00002
NM_000302.4(PLOD1):c.466+12G>T rs774213935 0.00002
NM_000302.4(PLOD1):c.570G>A (p.Pro190=) rs776173072 0.00002
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp) rs746416126 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln) rs776949094 0.00002
NM_000302.4(PLOD1):c.834G>A (p.Lys278=) rs557353959 0.00002
NM_000302.4(PLOD1):c.844-6G>T rs767068264 0.00002
NM_000302.4(PLOD1):c.861G>A (p.Thr287=) rs747570972 0.00002
NM_000302.4(PLOD1):c.882C>T (p.Ile294=) rs747668784 0.00002
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu) rs760230526 0.00002
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp) rs370736543 0.00002
NM_000302.4(PLOD1):c.939C>T (p.Tyr313=) rs1411565422 0.00002
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser) rs200524993 0.00002
NM_000302.4(PLOD1):c.-58G>A rs552712043 0.00001
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp) rs1195535094 0.00001
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys) rs748344499 0.00001
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891 0.00001
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=) rs1159010003 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr) rs367592901 0.00001
NM_000302.4(PLOD1):c.1097+10G>A rs562510011 0.00001
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys) rs538407894 0.00001
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys) rs373520363 0.00001
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys) rs764179880 0.00001
NM_000302.4(PLOD1):c.117G>A (p.Glu39=) rs779453447 0.00001
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp) rs1428519006 0.00001
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln) rs767839550 0.00001
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro) rs1434675020 0.00001
NM_000302.4(PLOD1):c.1202+14G>A rs757830518 0.00001
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile) rs773517731 0.00001
NM_000302.4(PLOD1):c.1209C>T (p.Val403=) rs1401528073 0.00001
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu) rs753623016 0.00001
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432 0.00001
NM_000302.4(PLOD1):c.1299C>T (p.Asp433=) rs886039111 0.00001
NM_000302.4(PLOD1):c.1317G>A (p.Gln439=) rs1334363341 0.00001
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720 0.00001
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp) rs1204551467 0.00001
NM_000302.4(PLOD1):c.135G>A (p.Lys45=) rs765354146 0.00001
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser) rs758780380 0.00001
NM_000302.4(PLOD1):c.1461C>T (p.Ile487=) rs746099980 0.00001
NM_000302.4(PLOD1):c.1471-17G>A rs373324035 0.00001
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675 0.00001
NM_000302.4(PLOD1):c.1471-6C>T rs751904520 0.00001
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile) rs780133138 0.00001
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048 0.00001
NM_000302.4(PLOD1):c.1515G>A (p.Leu505=) rs1034116707 0.00001
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe) rs1374717198 0.00001
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=) rs1025133534 0.00001
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His) rs773170096 0.00001
NM_000302.4(PLOD1):c.1542C>T (p.Thr514=) rs916626462 0.00001
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr) rs746905101 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val) rs376017234 0.00001
NM_000302.4(PLOD1):c.1659G>A (p.Pro553=) rs778242162 0.00001
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter) rs1433428588 0.00001
NM_000302.4(PLOD1):c.169-6C>T rs766073845 0.00001
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp) rs769499769 0.00001
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu) rs766973023 0.00001
NM_000302.4(PLOD1):c.1872G>A (p.Thr624=) rs1026914936 0.00001
NM_000302.4(PLOD1):c.1887C>T (p.Pro629=) rs1359830439 0.00001
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436 0.00001
NM_000302.4(PLOD1):c.1926C>T (p.Val642=) rs763454814 0.00001
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885 0.00001
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val) rs1487304416 0.00001
NM_000302.4(PLOD1):c.1998C>T (p.Ile666=) rs748080300 0.00001
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln) rs755654001 0.00001
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys) rs748841458 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter) rs373094220 0.00001
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val) rs1415378080 0.00001
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met) rs780253192 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.2172C>T (p.Phe724=) rs1255270684 0.00001
NM_000302.4(PLOD1):c.2175C>T (p.Val725=) rs768818916 0.00001
NM_000302.4(PLOD1):c.246G>A (p.Lys82=) rs1258534388 0.00001
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207 0.00001
NM_000302.4(PLOD1):c.303-7G>A rs1428437805 0.00001
NM_000302.4(PLOD1):c.309C>T (p.Asp103=) rs750096749 0.00001
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp) rs772221158 0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398 0.00001
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln) rs781455578 0.00001
NM_000302.4(PLOD1):c.354G>C (p.Arg118=) rs746072884 0.00001
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser) rs768422539 0.00001
NM_000302.4(PLOD1):c.466+3G>A rs779840832 0.00001
NM_000302.4(PLOD1):c.467-2del rs1440249864 0.00001
NM_000302.4(PLOD1):c.498A>G (p.Lys166=) rs1290621264 0.00001
NM_000302.4(PLOD1):c.54G>A (p.Ala18=) rs1266038179 0.00001
NM_000302.4(PLOD1):c.562T>C (p.Leu188=) rs967684441 0.00001
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser) rs750416079 0.00001
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys) rs534314930 0.00001
NM_000302.4(PLOD1):c.643+13C>A rs1297071034 0.00001
NM_000302.4(PLOD1):c.643+8G>T rs768848010 0.00001
NM_000302.4(PLOD1):c.644-16G>A rs778818723 0.00001
NM_000302.4(PLOD1):c.651C>T (p.Val217=) rs759435283 0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala) rs376643174 0.00001
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg) rs1438879558 0.00001
NM_000302.4(PLOD1):c.741+4G>C rs763641520 0.00001
NM_000302.4(PLOD1):c.741+7G>A rs751215041 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.789C>T (p.Phe263=) rs908800499 0.00001
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp) rs558752942 0.00001
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645 0.00001
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile) rs776894307 0.00001
NM_000302.4(PLOD1):c.844-16G>A rs565657931 0.00001
NM_000302.4(PLOD1):c.846T>C (p.Asp282=) rs755620088 0.00001
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser) rs748920493 0.00001
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met) rs777957649 0.00001
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692 0.00001
NM_000302.4(PLOD1):c.873C>T (p.Gly291=) rs1391173198 0.00001
NM_000302.4(PLOD1):c.894G>A (p.Thr298=) rs763229200 0.00001
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu) rs532145123 0.00001
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln) rs960778465 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000302.4(PLOD1):c.951C>T (p.His317=) rs770032875 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282 0.00001
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_11994837)_(12034865_?)dup
NC_000001.10:g.(?_12008013)_(12008144_?)del
NC_000001.10:g.(?_12008013)_(12010597_?)del
NC_000001.10:g.(?_12014867)_(12014970_?)del
NC_000001.10:g.(?_12020683)_(12027168_?)dup
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.10:g.(?_12022996)_(12026348_?)del
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NC_000001.11:g.(?_11934770)_(11934865_?)dup
NC_000001.11:g.(?_11949763)_(11952745_?)del
NC_000001.11:g.11963531GA[1]
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*461G>T rs1271843257
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter) rs1569713366
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
NM_000302.4(PLOD1):c.1038T>G (p.Ser346=)
NM_000302.4(PLOD1):c.1050G>C (p.Val350=)
NM_000302.4(PLOD1):c.1077A>G (p.Ala359=) rs1569713675
NM_000302.4(PLOD1):c.1097+11G>C
NM_000302.4(PLOD1):c.1097+13C>T
NM_000302.4(PLOD1):c.1097+14C>T
NM_000302.4(PLOD1):c.1097+17A>C
NM_000302.4(PLOD1):c.1097+17A>G
NM_000302.4(PLOD1):c.1097+17A>T
NM_000302.4(PLOD1):c.1097+17dup
NM_000302.4(PLOD1):c.1097+18G>C
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000302.4(PLOD1):c.1097+1G>C
NM_000302.4(PLOD1):c.1097+7T>C
NM_000302.4(PLOD1):c.1098-11C>T
NM_000302.4(PLOD1):c.1098-13C>G
NM_000302.4(PLOD1):c.1098-13C>T rs372681138
NM_000302.4(PLOD1):c.1098-19T>C
NM_000302.4(PLOD1):c.1098-20C>T
NM_000302.4(PLOD1):c.1098-20_1098-19del
NM_000302.4(PLOD1):c.1098-5T>C
NM_000302.4(PLOD1):c.1098-8C>G
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr) rs2100756894
NM_000302.4(PLOD1):c.10C>T (p.Leu4=)
NM_000302.4(PLOD1):c.1101C>T (p.Asp367=)
NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs)
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe) rs749210400
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu) rs2230896
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly) rs998178222
NM_000302.4(PLOD1):c.114C>T (p.Thr38=) rs11553679
NM_000302.4(PLOD1):c.1170C>T (p.Pro390=) rs1482515706
NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs) rs2100756997
NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)
NM_000302.4(PLOD1):c.1186C>T (p.Leu396=)
NM_000302.4(PLOD1):c.1191C>A (p.Ile397=) rs899107980
NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
NM_000302.4(PLOD1):c.1202+11T>A
NM_000302.4(PLOD1):c.1202+12C>A
NM_000302.4(PLOD1):c.1202+13C>T
NM_000302.4(PLOD1):c.1202+15T>C
NM_000302.4(PLOD1):c.1202+19C>T
NM_000302.4(PLOD1):c.1202+1G>A
NM_000302.4(PLOD1):c.1202+2T>C
NM_000302.4(PLOD1):c.1202+9G>C
NM_000302.4(PLOD1):c.1203-10C>G rs1569721056
NM_000302.4(PLOD1):c.1203-13T>C
NM_000302.4(PLOD1):c.1203-16del
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser) rs760764359
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.1230G>T (p.Arg410=)
NM_000302.4(PLOD1):c.1233T>C (p.His411=)
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu) rs2100757756
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro) rs1569721294
NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)
NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
NM_000302.4(PLOD1):c.125G>A (p.Arg42His) rs202116614
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)
NM_000302.4(PLOD1):c.1284T>C (p.Tyr428=)
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala) rs1645800221
NM_000302.4(PLOD1):c.1305G>A (p.Val435=)
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
NM_000302.4(PLOD1):c.1321C>A (p.Arg441=) rs11553676
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln) rs934141011
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe) rs1445338657
NM_000302.4(PLOD1):c.1328+16G>A
NM_000302.4(PLOD1):c.1328+1G>A
NM_000302.4(PLOD1):c.1329-13G>A
NM_000302.4(PLOD1):c.1329-1G>T rs112460511
NM_000302.4(PLOD1):c.1329-6C>T
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000302.4(PLOD1):c.1344G>A (p.Val448=)
NM_000302.4(PLOD1):c.1347C>G (p.Pro449=)
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys) rs1264798278
NM_000302.4(PLOD1):c.1356A>T (p.Ser452=)
NM_000302.4(PLOD1):c.1359C>T (p.Asn453=)
NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
NM_000302.4(PLOD1):c.1386G>A (p.Leu462=)
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val) rs1645803161
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
NM_000302.4(PLOD1):c.1401G>A (p.Gln467=) rs2100758313
NM_000302.4(PLOD1):c.1419C>T (p.His473=)
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro) rs2100758364
NM_000302.4(PLOD1):c.1437C>T (p.Pro479=)
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val) rs2100758386
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser) rs1490187110
NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter) rs1189324317
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
NM_000302.4(PLOD1):c.1464G>A (p.Arg488=) rs2100758413
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg) rs1156431423
NM_000302.4(PLOD1):c.1470+11A>G rs768467070
NM_000302.4(PLOD1):c.1470+12G>A
NM_000302.4(PLOD1):c.1470+13C>T
NM_000302.4(PLOD1):c.1470+18A>G
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1471-13C>T
NM_000302.4(PLOD1):c.1471-14C>T rs2100759144
NM_000302.4(PLOD1):c.1471-16G>T
NM_000302.4(PLOD1):c.1471-17G>C
NM_000302.4(PLOD1):c.1471-17G>T
NM_000302.4(PLOD1):c.1471-18del
NM_000302.4(PLOD1):c.1471-20A>G
NM_000302.4(PLOD1):c.1471-4C>T
NM_000302.4(PLOD1):c.1471-8C>G
NM_000302.4(PLOD1):c.1471-9C>A rs376476977
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT rs1553136318
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn) rs1283020139
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly) rs2100759169
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile) rs750942824
NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)
NM_000302.4(PLOD1):c.1479dup (p.Met494fs) rs1569724692
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys) rs1645810603
NM_000302.4(PLOD1):c.1494C>T (p.Asn498=) rs1645810603
NM_000302.4(PLOD1):c.1511_1513del (p.His504del) rs2100759209
NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
NM_000302.4(PLOD1):c.1546C>T (p.Leu516=)
NM_000302.4(PLOD1):c.1548G>C (p.Leu516=)
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu) rs1429074293
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys) rs758701213
NM_000302.4(PLOD1):c.1578C>T (p.Asn526=)
NM_000302.4(PLOD1):c.1584+11G>C
NM_000302.4(PLOD1):c.1584+12G>T
NM_000302.4(PLOD1):c.1584+16G>A
NM_000302.4(PLOD1):c.1584+1G>A rs746930362
NM_000302.4(PLOD1):c.1584+1G>T
NM_000302.4(PLOD1):c.1584+20A>G
NM_000302.4(PLOD1):c.1585-11A>T
NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]
NM_000302.4(PLOD1):c.1585-19T>C rs1645816365
NM_000302.4(PLOD1):c.1585-2A>G
NM_000302.4(PLOD1):c.1585-5C>A
NM_000302.4(PLOD1):c.1585-7C>T
NM_000302.4(PLOD1):c.1585-9T>G
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.159C>T (p.Tyr53=) rs1569682156
NM_000302.4(PLOD1):c.1605C>T (p.Ile535=)
NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)
NM_000302.4(PLOD1):c.1627C>T (p.Leu543=)
NM_000302.4(PLOD1):c.1632A>T (p.Ala544=)
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1635G>A (p.Gly545=) rs2100760044
NM_000302.4(PLOD1):c.1638G>A (p.Lys546=) rs1569726862
NM_000302.4(PLOD1):c.1646del (p.Glu549fs) rs2100760068
NM_000302.4(PLOD1):c.1650+11T>C
NM_000302.4(PLOD1):c.1650+12G>A
NM_000302.4(PLOD1):c.1650+13del
NM_000302.4(PLOD1):c.1650+15C>T
NM_000302.4(PLOD1):c.1650+16_1650+19del
NM_000302.4(PLOD1):c.1650+18C>A
NM_000302.4(PLOD1):c.1650+19C>T
NM_000302.4(PLOD1):c.1650+20T>C
NM_000302.4(PLOD1):c.1650+8C>T
NM_000302.4(PLOD1):c.1651-16T>A
NM_000302.4(PLOD1):c.1651-19G>A
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser) rs1324129456
NM_000302.4(PLOD1):c.1653C>A (p.Pro551=)
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
NM_000302.4(PLOD1):c.1665C>T (p.Val555=)
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
NM_000302.4(PLOD1):c.168+16G>A
NM_000302.4(PLOD1):c.168+1G>T
NM_000302.4(PLOD1):c.168+9T>C
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.169-12G>A
NM_000302.4(PLOD1):c.169-16G>A
NM_000302.4(PLOD1):c.169-17G>A
NM_000302.4(PLOD1):c.169-4C>T
NM_000302.4(PLOD1):c.1692G>A (p.Val564=)
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe) rs377325169
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys) rs761949919
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val) rs753862253
NM_000302.4(PLOD1):c.1710G>A (p.Val570=)
NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
NM_000302.4(PLOD1):c.1713G>A (p.Glu571=)
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr) rs1645823972
NM_000302.4(PLOD1):c.171G>A (p.Ala57=)
NM_000302.4(PLOD1):c.1722G>A (p.Glu574=)
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp) rs1331435501
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
NM_000302.4(PLOD1):c.174T>G (p.Leu58=) rs2100743311
NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)
NM_000302.4(PLOD1):c.1755+20G>T
NM_000302.4(PLOD1):c.1755+9C>G
NM_000302.4(PLOD1):c.1755+9C>T
NM_000302.4(PLOD1):c.1756-12G>T
NM_000302.4(PLOD1):c.1756-13C>A
NM_000302.4(PLOD1):c.1756-13C>G
NM_000302.4(PLOD1):c.1756-15C>G
NM_000302.4(PLOD1):c.1756-1_1767dup
NM_000302.4(PLOD1):c.1756-20T>G rs1310114003
NM_000302.4(PLOD1):c.1756-6C>A
NM_000302.4(PLOD1):c.1756-7C>T
NM_000302.4(PLOD1):c.1756-9C>T
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.1764C>T (p.Arg588=)
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro) rs2100764621
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala) rs138106022
NM_000302.4(PLOD1):c.1772del (p.Gly591fs) rs1645855563
NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)
NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=)
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1785C>T (p.Asn595=)
NM_000302.4(PLOD1):c.1791G>A (p.Pro597=) rs151051718
NM_000302.4(PLOD1):c.1791G>C (p.Pro597=) rs151051718
NM_000302.4(PLOD1):c.1794T>G (p.Thr598=) rs773916889
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.1800C>T (p.Asp600=)
NM_000302.4(PLOD1):c.1803C>T (p.Ile601=)
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
NM_000302.4(PLOD1):c.1806C>T (p.His602=)
NM_000302.4(PLOD1):c.180A>G (p.Leu60=)
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
NM_000302.4(PLOD1):c.1815G>A (p.Gln605=)
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=) rs372579008
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
NM_000302.4(PLOD1):c.1833G>A (p.Glu611=)
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln) rs768638113
NM_000302.4(PLOD1):c.1839_1902+64del rs2100764790
NM_000302.4(PLOD1):c.183G>A (p.Gly61=)
NM_000302.4(PLOD1):c.1863G>A (p.Ala621=) rs912522044
NM_000302.4(PLOD1):c.1866C>G (p.Pro622=)
NM_000302.4(PLOD1):c.1866C>T (p.Pro622=)
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met) rs760314787
NM_000302.4(PLOD1):c.1878G>A (p.Lys626=)
NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala) rs920188548
NM_000302.4(PLOD1):c.1887C>G (p.Pro629=)
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp) rs1645857603
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys) rs752084194
NM_000302.4(PLOD1):c.1896C>T (p.Tyr632=)
NM_000302.4(PLOD1):c.189C>T (p.Asp63=) rs1259023201
NM_000302.4(PLOD1):c.1902+3G>A rs1645857795
NM_000302.4(PLOD1):c.1903-12G>C
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.1903-15C>T
NM_000302.4(PLOD1):c.1903-17C>T
NM_000302.4(PLOD1):c.1903-18C>A rs750758605
NM_000302.4(PLOD1):c.1903-18C>T rs750758605
NM_000302.4(PLOD1):c.1903-20del
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000302.4(PLOD1):c.1903-2A>T
NM_000302.4(PLOD1):c.1905C>G (p.Ala635=)
NM_000302.4(PLOD1):c.1905C>T (p.Ala635=)
NM_000302.4(PLOD1):c.1908G>A (p.Gln636=)
NM_000302.4(PLOD1):c.1911T>C (p.Phe637=)
NM_000302.4(PLOD1):c.1929C>T (p.Val643=) rs752137195
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.1947G>A (p.Glu649=)
NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)
NM_000302.4(PLOD1):c.1968C>T (p.His656=)
NM_000302.4(PLOD1):c.1971T>C (p.His657=)
NM_000302.4(PLOD1):c.1977C>T (p.Ala659=)
NM_000302.4(PLOD1):c.1986C>T (p.Phe662=)
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr)
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter) rs1434924385
NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=)
NM_000302.4(PLOD1):c.2028+12C>A
NM_000302.4(PLOD1):c.2028+12C>G
NM_000302.4(PLOD1):c.2028+16C>G
NM_000302.4(PLOD1):c.2028+17C>G
NM_000302.4(PLOD1):c.2028+18G>A
NM_000302.4(PLOD1):c.2028+7A>C
NM_000302.4(PLOD1):c.2029-20T>C
NM_000302.4(PLOD1):c.2029-20T>G
NM_000302.4(PLOD1):c.2029-3del rs1273287120
NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)
NM_000302.4(PLOD1):c.2034G>A (p.Gly678=)
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp) rs1281801241
NM_000302.4(PLOD1):c.2043G>T (p.Arg681=) rs2100768727
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=)
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys) rs1010336383
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser) rs2100768765
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val) rs1553137685
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn) rs1645891475
NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
NM_000302.4(PLOD1):c.2115G>A (p.Thr705=)
NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His) rs1645892067
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu) rs2100743367
NM_000302.4(PLOD1):c.2130G>A (p.Gly710=)
NM_000302.4(PLOD1):c.2136C>A (p.Pro712=)
NM_000302.4(PLOD1):c.2136C>T (p.Pro712=)
NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)
NM_000302.4(PLOD1):c.213G>A (p.Ser71=)
NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val) rs2100743381
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser) rs781689639
NM_000302.4(PLOD1):c.2163A>C (p.Ala721=)
NM_000302.4(PLOD1):c.2164del (p.Val722fs) rs1645892679
NM_000302.4(PLOD1):c.2169C>T (p.Ser723=)
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile) rs151247380
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu) rs151247380
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val) rs1034357016
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val) rs1348207190
NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro)
NM_000302.4(PLOD1):c.25C>T (p.Leu9=)
NM_000302.4(PLOD1):c.262C>G (p.His88Asp) rs1645686634
NM_000302.4(PLOD1):c.264C>T (p.His88=)
NM_000302.4(PLOD1):c.272del (p.Lys91fs) rs2100743480
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
NM_000302.4(PLOD1):c.297A>G (p.Ala99=) rs2100743542
NM_000302.4(PLOD1):c.302+3_302+6del rs2100743549
NM_000302.4(PLOD1):c.302+5G>C rs749607584
NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA
NM_000302.4(PLOD1):c.303-13G>C
NM_000302.4(PLOD1):c.303-14T>C
NM_000302.4(PLOD1):c.303-17C>T
NM_000302.4(PLOD1):c.303-18T>G rs2100743986
NM_000302.4(PLOD1):c.303-18_303-17del rs2100743981
NM_000302.4(PLOD1):c.303-20T>G
NM_000302.4(PLOD1):c.303-6C>T rs2100744004
NM_000302.4(PLOD1):c.30G>A (p.Leu10=) rs886039113
NM_000302.4(PLOD1):c.312G>C (p.Val104=)
NM_000302.4(PLOD1):c.313C>T (p.Leu105=) rs1557487050
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
NM_000302.4(PLOD1):c.315G>A (p.Leu105=)
NM_000302.4(PLOD1):c.315_317del (p.Phe106del) rs770511543
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu) rs549517196
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)
NM_000302.4(PLOD1):c.33C>T (p.Gly11=) rs2100729686
NM_000302.4(PLOD1):c.340C>T (p.Leu114=)
NM_000302.4(PLOD1):c.345G>A (p.Lys115=)
NM_000302.4(PLOD1):c.351C>T (p.Phe117=)
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys) rs1645691095
NM_000302.4(PLOD1):c.360C>G (p.Ala120=)
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter) rs1645691337
NM_000302.4(PLOD1):c.369G>C (p.Gln123His) rs1645691361
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile) rs984869224
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu) rs144702307
NM_000302.4(PLOD1):c.384T>G (p.Ala128=)
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
NM_000302.4(PLOD1):c.396C>T (p.Ile132=) rs999062403
NM_000302.4(PLOD1):c.402del (p.Asp135fs) rs886043926
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.417G>A (p.Glu139=)
NM_000302.4(PLOD1):c.423G>A (p.Lys141=)
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
NM_000302.4(PLOD1):c.429G>A (p.Pro143=)
NM_000302.4(PLOD1):c.429G>T (p.Pro143=)
NM_000302.4(PLOD1):c.466+10C>G
NM_000302.4(PLOD1):c.466+13G>T
NM_000302.4(PLOD1):c.466+20G>A
NM_000302.4(PLOD1):c.466+65C>A
NM_000302.4(PLOD1):c.466+7G>A
NM_000302.4(PLOD1):c.467-12A>G
NM_000302.4(PLOD1):c.467-13_467-6del
NM_000302.4(PLOD1):c.467-14C>T
NM_000302.4(PLOD1):c.467-19C>T
NM_000302.4(PLOD1):c.467-20C>T rs1645710680
NM_000302.4(PLOD1):c.467-2A>G
NM_000302.4(PLOD1):c.467-6C>A
NM_000302.4(PLOD1):c.467-8A>C
NM_000302.4(PLOD1):c.474C>A (p.Ile158=)
NM_000302.4(PLOD1):c.474C>T (p.Ile158=)
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.486C>A (p.Pro162=)
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
NM_000302.4(PLOD1):c.48C>T (p.Ala16=)
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) rs1402614845
NM_000302.4(PLOD1):c.507C>T (p.Ala169=)
NM_000302.4(PLOD1):c.510G>A (p.Glu170=)
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly) rs1569694008
NM_000302.4(PLOD1):c.528C>T (p.Ser176=)
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn) rs188165334
NM_000302.4(PLOD1):c.535G>C (p.Asp179His) rs188165334
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr) rs188165334
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
NM_000302.4(PLOD1):c.541C>T (p.Leu181=)
NM_000302.4(PLOD1):c.543G>C (p.Leu181=)
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg) rs2100746537
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.558C>T (p.Ile186=)
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp) rs1645711960
NM_000302.4(PLOD1):c.567C>T (p.Asp189=)
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg) rs375416784
NM_000302.4(PLOD1):c.576G>A (p.Lys192=) rs1645712079
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+12T>C
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000302.4(PLOD1):c.579+3A>C rs1645712158
NM_000302.4(PLOD1):c.579+8G>A
NM_000302.4(PLOD1):c.579+8G>T
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.4(PLOD1):c.580-10T>C rs1645726829
NM_000302.4(PLOD1):c.580-11C>G
NM_000302.4(PLOD1):c.580-12T>A
NM_000302.4(PLOD1):c.580-13T>G
NM_000302.4(PLOD1):c.580-16A>G
NM_000302.4(PLOD1):c.580-19G>A
NM_000302.4(PLOD1):c.580-20T>G
NM_000302.4(PLOD1):c.580-2A>G
NM_000302.4(PLOD1):c.580-4G>T
NM_000302.4(PLOD1):c.580-7C>T
NM_000302.4(PLOD1):c.582G>A (p.Glu194=)
NM_000302.4(PLOD1):c.598C>T (p.Leu200=)
NM_000302.4(PLOD1):c.603C>T (p.Asp201=)
NM_000302.4(PLOD1):c.609C>G (p.Arg203=)
NM_000302.4(PLOD1):c.60C>T (p.Gly20=)
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.618C>A (p.Ile206=)
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.624G>A (p.Gln208=)
NM_000302.4(PLOD1):c.627C>T (p.Asn209=) rs2100748753
NM_000302.4(PLOD1):c.628C>T (p.Leu210=)
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
NM_000302.4(PLOD1):c.639C>T (p.Ala213=)
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu) rs1645566854
NM_000302.4(PLOD1):c.643+10C>T
NM_000302.4(PLOD1):c.643+12C>T
NM_000302.4(PLOD1):c.643+13C>G
NM_000302.4(PLOD1):c.643+16G>C
NM_000302.4(PLOD1):c.643+19G>A
NM_000302.4(PLOD1):c.643+20A>T
NM_000302.4(PLOD1):c.644-15C>T
NM_000302.4(PLOD1):c.644-17_644-16del rs755109500
NM_000302.4(PLOD1):c.644-18G>A
NM_000302.4(PLOD1):c.644-19T>C
NM_000302.4(PLOD1):c.644-2A>G
NM_000302.4(PLOD1):c.648G>A (p.Glu216=) rs150852515
NM_000302.4(PLOD1):c.651C>G (p.Val217=)
NM_000302.4(PLOD1):c.652G>A (p.Val218Met) rs372534520
NM_000302.4(PLOD1):c.654G>A (p.Val218=)
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro) rs1392799816
NM_000302.4(PLOD1):c.674A>G (p.His225Arg) rs1176136454
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu) rs566018612
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn) rs1645742510
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
NM_000302.4(PLOD1):c.711G>A (p.Pro237=)
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu) rs1438879558
NM_000302.4(PLOD1):c.720C>T (p.Ile240=) rs770749842
NM_000302.4(PLOD1):c.723T>C (p.His241=) rs2100750549
NM_000302.4(PLOD1):c.723T>G (p.His241Gln) rs2100750549
NM_000302.4(PLOD1):c.726C>T (p.Gly242=)
NM_000302.4(PLOD1):c.729C>T (p.Asn243=)
NM_000302.4(PLOD1):c.72G>A (p.Pro24=) rs1645566983
NM_000302.4(PLOD1):c.72G>T (p.Pro24=)
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.741+11C>T
NM_000302.4(PLOD1):c.741+12C>T
NM_000302.4(PLOD1):c.741+13C>G
NM_000302.4(PLOD1):c.741+13C>T rs2100750594
NM_000302.4(PLOD1):c.741+16C>T
NM_000302.4(PLOD1):c.741+19C>G
NM_000302.4(PLOD1):c.741+8G>T
NM_000302.4(PLOD1):c.742-13G>A
NM_000302.4(PLOD1):c.742-14C>A
NM_000302.4(PLOD1):c.742-14C>T
NM_000302.4(PLOD1):c.742-9C>A
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
NM_000302.4(PLOD1):c.744G>A (p.Leu248=)
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala) rs774044489
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val) rs2100751390
NM_000302.4(PLOD1):c.759G>A (p.Leu253=)
NM_000302.4(PLOD1):c.759G>C (p.Leu253=) rs762271097
NM_000302.4(PLOD1):c.76+10C>T rs2100729726
NM_000302.4(PLOD1):c.76+11G>A
NM_000302.4(PLOD1):c.76+13A>C
NM_000302.4(PLOD1):c.76+14G>A
NM_000302.4(PLOD1):c.76+15G>T
NM_000302.4(PLOD1):c.76+19G>A
NM_000302.4(PLOD1):c.76+20G>A
NM_000302.4(PLOD1):c.76+22del
NM_000302.4(PLOD1):c.77-13C>A
NM_000302.4(PLOD1):c.77-13C>T
NM_000302.4(PLOD1):c.77-16C>T
NM_000302.4(PLOD1):c.77-17C>A
NM_000302.4(PLOD1):c.77-17C>T rs748925361
NM_000302.4(PLOD1):c.77-18A>G
NM_000302.4(PLOD1):c.77-19T>C
NM_000302.4(PLOD1):c.77-20A>C
NM_000302.4(PLOD1):c.77-20A>G
NM_000302.4(PLOD1):c.77-6C>G
NM_000302.4(PLOD1):c.771C>T (p.Ile257=)
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000302.4(PLOD1):c.777C>T (p.Arg259=) rs1473839953
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn) rs2100751465
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser) rs2100741705
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys) rs1267512667
NM_000302.4(PLOD1):c.825C>T (p.Arg275=)
NM_000302.4(PLOD1):c.828C>T (p.Ser276=)
NM_000302.4(PLOD1):c.843+11G>A
NM_000302.4(PLOD1):c.843+14C>T
NM_000302.4(PLOD1):c.843+15A>G
NM_000302.4(PLOD1):c.844-10C>T rs2100752088
NM_000302.4(PLOD1):c.844-12T>C
NM_000302.4(PLOD1):c.844-13C>T
NM_000302.4(PLOD1):c.844-14C>T
NM_000302.4(PLOD1):c.844-15C>T
NM_000302.4(PLOD1):c.844-16G>T
NM_000302.4(PLOD1):c.844-17C>T
NM_000302.4(PLOD1):c.844-3C>G rs2100752095
NM_000302.4(PLOD1):c.844-6G>C
NM_000302.4(PLOD1):c.844-9C>T
NM_000302.4(PLOD1):c.855G>A (p.Leu285=)
NM_000302.4(PLOD1):c.858C>T (p.Pro286=)
NM_000302.4(PLOD1):c.861G>T (p.Thr287=)
NM_000302.4(PLOD1):c.864C>T (p.Val288=)
NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp) rs1394486748
NM_000302.4(PLOD1):c.873C>A (p.Gly291=)
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu) rs143114026
NM_000302.4(PLOD1):c.876G>A (p.Val292=)
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.907C>T (p.Leu303=)
NM_000302.4(PLOD1):c.90C>T (p.Val30=)
NM_000302.4(PLOD1):c.921G>A (p.Arg307=) rs754534604
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe) rs1438781151
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu) rs1645756307
NM_000302.4(PLOD1):c.942C>G (p.Pro314=)
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
NM_000302.4(PLOD1):c.951C>G (p.His317Gln) rs770032875
NM_000302.4(PLOD1):c.955C>A (p.Arg319=)
NM_000302.4(PLOD1):c.963C>T (p.Phe321=) rs2100752293
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.96G>A (p.Thr32=)
NM_000302.4(PLOD1):c.975+2_975+3insTT
NM_000302.4(PLOD1):c.976-14A>G
NM_000302.4(PLOD1):c.976-15C>A
NM_000302.4(PLOD1):c.976-17C>T
NM_000302.4(PLOD1):c.976-18C>T
NM_000302.4(PLOD1):c.976-2A>G
NM_000302.4(PLOD1):c.976-2A>T rs1375808651
NM_000302.4(PLOD1):c.976-3C>T rs1198690797
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000302.4(PLOD1):c.976-7_976-2dup
NM_000302.4(PLOD1):c.999G>A (p.Val333=)
NM_000302.4(PLOD1):c.9C>T (p.Pro3=)

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