ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 28

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 376
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HGVS dbSNP gnomAD frequency
NM_001160148.2(DDHD1):c.354C>T (p.His118=) rs2358188 0.73414
NM_001160148.2(DDHD1):c.273C>T (p.Phe91=) rs2358189 0.72157
NM_001160148.2(DDHD1):c.2521+10del rs78491021 0.16131
NM_001160148.2(DDHD1):c.317G>C (p.Gly106Ala) rs117525276 0.04740
NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys) rs73296180 0.01877
NM_001160148.2(DDHD1):c.136G>A (p.Gly46Ser) rs61985140 0.01292
NM_001160148.2(DDHD1):c.453G>A (p.Pro151=) rs141323589 0.00649
NM_001160148.2(DDHD1):c.1012+619C>A rs192493244 0.00343
NM_001160148.2(DDHD1):c.1993-17T>G rs112572275 0.00282
NM_001160148.2(DDHD1):c.1503+10A>T rs180742508 0.00191
NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=) rs138906273 0.00150
NM_001160148.2(DDHD1):c.1191A>G (p.Thr397=) rs139838546 0.00110
NM_001160148.2(DDHD1):c.733G>A (p.Glu245Lys) rs146006539 0.00104
NM_001160148.2(DDHD1):c.156C>T (p.Gly52=) rs367621941 0.00096
NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser) rs148836546 0.00081
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg) rs144016130 0.00073
NM_001160148.2(DDHD1):c.882C>T (p.Asp294=) rs147569085 0.00066
NM_001160148.2(DDHD1):c.1362T>C (p.Pro454=) rs147452605 0.00039
NM_001160148.2(DDHD1):c.1008A>G (p.Lys336=) rs143307366 0.00029
NM_001160148.2(DDHD1):c.204G>A (p.Ala68=) rs139727469 0.00029
NM_001160148.2(DDHD1):c.100T>G (p.Phe34Val) rs771285016 0.00028
NM_001160148.2(DDHD1):c.976G>C (p.Asp326His) rs145456012 0.00022
NM_001160148.2(DDHD1):c.1527G>A (p.Glu509=) rs201393353 0.00019
NM_001160148.2(DDHD1):c.614C>T (p.Pro205Leu) rs533899454 0.00017
NM_001160148.2(DDHD1):c.1120C>A (p.Gln374Lys) rs143813159 0.00016
NM_001160148.2(DDHD1):c.340T>C (p.Ser114Pro) rs756788863 0.00014
NM_001160148.2(DDHD1):c.1119C>T (p.Thr373=) rs557024302 0.00011
NM_001160148.2(DDHD1):c.1217C>T (p.Thr406Ile) rs142005917 0.00011
NM_001160148.2(DDHD1):c.1673A>G (p.Gln558Arg) rs199607183 0.00009
NM_001160148.2(DDHD1):c.278C>T (p.Ser93Phe) rs368145864 0.00008
NM_001160148.2(DDHD1):c.579C>T (p.Ala193=) rs149564453 0.00008
NM_001160148.2(DDHD1):c.812G>T (p.Gly271Val) rs747496321 0.00008
NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys) rs193261227 0.00007
NM_001160148.2(DDHD1):c.2526G>A (p.Glu842=) rs368019624 0.00007
NM_001160148.2(DDHD1):c.12G>A (p.Pro4=) rs973574548 0.00006
NM_001160148.2(DDHD1):c.2667C>T (p.His889=) rs774873200 0.00006
NM_001160148.2(DDHD1):c.513C>G (p.Phe171Leu) rs768701113 0.00006
NM_001160148.2(DDHD1):c.677G>T (p.Gly226Val) rs980371477 0.00006
NM_001160148.2(DDHD1):c.687C>T (p.Asp229=) rs769806406 0.00006
NM_001160148.2(DDHD1):c.831C>T (p.Tyr277=) rs368725055 0.00006
NM_001160148.2(DDHD1):c.838+14C>T rs372898360 0.00006
NM_001160148.2(DDHD1):c.127C>T (p.His43Tyr) rs751145177 0.00005
NM_001160148.2(DDHD1):c.146C>T (p.Pro49Leu) rs747202346 0.00005
NM_001160148.2(DDHD1):c.1787G>A (p.Arg596Gln) rs376878596 0.00005
NM_001160148.2(DDHD1):c.1842+3A>G rs753506242 0.00005
NM_001160148.2(DDHD1):c.2386G>A (p.Val796Ile) rs184982008 0.00005
NM_001160148.2(DDHD1):c.266A>G (p.Tyr89Cys) rs771632283 0.00005
NM_001160148.2(DDHD1):c.280G>C (p.Ala94Pro) rs758060048 0.00005
NM_001160148.2(DDHD1):c.312C>T (p.Ser104=) rs767690171 0.00005
NM_001160148.2(DDHD1):c.1012+613A>G rs771542419 0.00004
NM_001160148.2(DDHD1):c.182G>C (p.Gly61Ala) rs548480563 0.00004
NM_001160148.2(DDHD1):c.2276G>A (p.Gly759Glu) rs763441792 0.00004
NM_001160148.2(DDHD1):c.26C>T (p.Pro9Leu) rs1257301534 0.00004
NM_001160148.2(DDHD1):c.308A>G (p.Tyr103Cys) rs375480208 0.00004
NM_001160148.2(DDHD1):c.405G>A (p.Ala135=) rs368557990 0.00004
NM_001160148.2(DDHD1):c.452C>T (p.Pro151Leu) rs201057717 0.00004
NM_001160148.2(DDHD1):c.1012+647A>C rs746698403 0.00003
NM_001160148.2(DDHD1):c.1396+14A>C rs1406967544 0.00003
NM_001160148.2(DDHD1):c.1529T>C (p.Leu510Pro) rs755632915 0.00003
NM_001160148.2(DDHD1):c.1535G>A (p.Arg512Gln) rs146473667 0.00003
NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs) rs760208786 0.00003
NM_001160148.2(DDHD1):c.1765C>T (p.Arg589Trp) rs780032756 0.00003
NM_001160148.2(DDHD1):c.1895G>A (p.Arg632His) rs749263468 0.00003
NM_001160148.2(DDHD1):c.1993-19T>A rs182455396 0.00003
NM_001160148.2(DDHD1):c.2385C>T (p.Thr795=) rs1483976464 0.00003
NM_001160148.2(DDHD1):c.2437+7T>G rs577522938 0.00003
NM_001160148.2(DDHD1):c.2654A>G (p.Tyr885Cys) rs141960546 0.00003
NM_001160148.2(DDHD1):c.282C>G (p.Ala94=) rs750005961 0.00003
NM_001160148.2(DDHD1):c.322_327dup (p.Ser108_Gly109dup) rs747912386 0.00003
NM_001160148.2(DDHD1):c.337A>G (p.Ser113Gly) rs200797826 0.00003
NM_001160148.2(DDHD1):c.378C>G (p.Val126=) rs773329550 0.00003
NM_001160148.2(DDHD1):c.438C>G (p.Thr146=) rs748129023 0.00003
NM_001160148.2(DDHD1):c.446G>A (p.Gly149Asp) rs375593607 0.00003
NM_001160148.2(DDHD1):c.48C>G (p.Gly16=) rs907736393 0.00003
NM_001160148.2(DDHD1):c.501G>A (p.Glu167=) rs769368061 0.00003
NM_001160148.2(DDHD1):c.751C>T (p.Leu251Phe) rs770654348 0.00003
NM_001160148.2(DDHD1):c.1012+664T>C rs376884109 0.00002
NM_001160148.2(DDHD1):c.14G>C (p.Gly5Ala) rs1184854729 0.00002
NM_001160148.2(DDHD1):c.1795G>A (p.Gly599Arg) rs766773682 0.00002
NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=) rs546774166 0.00002
NM_001160148.2(DDHD1):c.1958G>A (p.Arg653Gln) rs530258908 0.00002
NM_001160148.2(DDHD1):c.1993-8A>T rs952847418 0.00002
NM_001160148.2(DDHD1):c.19G>A (p.Gly7Arg) rs1052951644 0.00002
NM_001160148.2(DDHD1):c.2128A>G (p.Thr710Ala) rs778314127 0.00002
NM_001160148.2(DDHD1):c.2427C>T (p.Leu809=) rs148782241 0.00002
NM_001160148.2(DDHD1):c.2522-8C>T rs768202098 0.00002
NM_001160148.2(DDHD1):c.381G>T (p.Pro127=) rs776947891 0.00002
NM_001160148.2(DDHD1):c.729G>A (p.Gly243=) rs113642168 0.00002
NM_001160148.2(DDHD1):c.836A>G (p.Asn279Ser) rs151013237 0.00002
NM_001160148.2(DDHD1):c.837C>T (p.Asn279=) rs758999007 0.00002
NM_001160148.2(DDHD1):c.965A>C (p.Gln322Pro) rs937254999 0.00002
NM_001160148.2(DDHD1):c.1010A>T (p.Asp337Val) rs139853377 0.00001
NM_001160148.2(DDHD1):c.1012+635G>A rs1887427543 0.00001
NM_001160148.2(DDHD1):c.1012+661A>G rs1179394686 0.00001
NM_001160148.2(DDHD1):c.1012+665G>A rs1232904052 0.00001
NM_001160148.2(DDHD1):c.1013C>T (p.Ala338Val) rs767815843 0.00001
NM_001160148.2(DDHD1):c.1069G>A (p.Val357Ile) rs745452505 0.00001
NM_001160148.2(DDHD1):c.1141+20A>C rs1383141238 0.00001
NM_001160148.2(DDHD1):c.1142-7T>C rs748714439 0.00001
NM_001160148.2(DDHD1):c.1161A>G (p.Arg387=) rs1312004804 0.00001
NM_001160148.2(DDHD1):c.1239T>C (p.His413=) rs1038984158 0.00001
NM_001160148.2(DDHD1):c.1290-5T>C rs767317061 0.00001
NM_001160148.2(DDHD1):c.1321A>G (p.Arg441Gly) rs766121321 0.00001
NM_001160148.2(DDHD1):c.1323G>A (p.Arg441=) rs377387241 0.00001
NM_001160148.2(DDHD1):c.1334A>G (p.Asn445Ser) rs772863841 0.00001
NM_001160148.2(DDHD1):c.1349T>C (p.Val450Ala) rs1764629012 0.00001
NM_001160148.2(DDHD1):c.1357C>T (p.Leu453=) rs761376814 0.00001
NM_001160148.2(DDHD1):c.1373G>A (p.Arg458Gln) rs1884724474 0.00001
NM_001160148.2(DDHD1):c.1378A>C (p.Lys460Gln) rs775155578 0.00001
NM_001160148.2(DDHD1):c.1400C>T (p.Thr467Ile) rs749434386 0.00001
NM_001160148.2(DDHD1):c.1503+5G>C rs370071581 0.00001
NM_001160148.2(DDHD1):c.1539G>A (p.Leu513=) rs767424223 0.00001
NM_001160148.2(DDHD1):c.1553G>T (p.Cys518Phe) rs1291109043 0.00001
NM_001160148.2(DDHD1):c.1597A>G (p.Ile533Val) rs770043699 0.00001
NM_001160148.2(DDHD1):c.1661G>A (p.Arg554Gln) rs755789866 0.00001
NM_001160148.2(DDHD1):c.1679T>C (p.Leu560Pro) rs1060502166 0.00001
NM_001160148.2(DDHD1):c.16C>T (p.Arg6Cys) rs1367342869 0.00001
NM_001160148.2(DDHD1):c.1713G>T (p.Trp571Cys) rs1402569521 0.00001
NM_001160148.2(DDHD1):c.1714A>G (p.Met572Val) rs982856837 0.00001
NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter) rs776191400 0.00001
NM_001160148.2(DDHD1):c.1742A>G (p.Asp581Gly) rs746305110 0.00001
NM_001160148.2(DDHD1):c.1751A>G (p.Tyr584Cys) rs774785090 0.00001
NM_001160148.2(DDHD1):c.1763G>A (p.Arg588Gln) rs746508736 0.00001
NM_001160148.2(DDHD1):c.1766+9T>C rs758336095 0.00001
NM_001160148.2(DDHD1):c.1778T>C (p.Ile593Thr) rs534395173 0.00001
NM_001160148.2(DDHD1):c.1794C>T (p.His598=) rs752148702 0.00001
NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg) rs568294049 0.00001
NM_001160148.2(DDHD1):c.184G>A (p.Glu62Lys) rs1370611484 0.00001
NM_001160148.2(DDHD1):c.1893G>A (p.Leu631=) rs773742131 0.00001
NM_001160148.2(DDHD1):c.1903C>T (p.Arg635Cys) rs1258669542 0.00001
NM_001160148.2(DDHD1):c.1905C>G (p.Arg635=) rs780940236 0.00001
NM_001160148.2(DDHD1):c.1910G>C (p.Gly637Ala) rs1437541554 0.00001
NM_001160148.2(DDHD1):c.1936T>C (p.Leu646=) rs1883264882 0.00001
NM_001160148.2(DDHD1):c.1992+11A>G rs367814989 0.00001
NM_001160148.2(DDHD1):c.1992+13A>G rs1241199136 0.00001
NM_001160148.2(DDHD1):c.2051T>C (p.Ile684Thr) rs761865065 0.00001
NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=) rs377049663 0.00001
NM_001160148.2(DDHD1):c.2194C>T (p.Arg732Cys) rs764869346 0.00001
NM_001160148.2(DDHD1):c.2239A>G (p.Ile747Val) rs899518972 0.00001
NM_001160148.2(DDHD1):c.2283G>A (p.Leu761=) rs1328845748 0.00001
NM_001160148.2(DDHD1):c.2286C>T (p.Phe762=) rs1334344549 0.00001
NM_001160148.2(DDHD1):c.2358G>A (p.Lys786=) rs759300334 0.00001
NM_001160148.2(DDHD1):c.2399C>T (p.Thr800Ile) rs769191532 0.00001
NM_001160148.2(DDHD1):c.2426T>A (p.Leu809His) rs1417863233 0.00001
NM_001160148.2(DDHD1):c.2437+18T>G rs763251928 0.00001
NM_001160148.2(DDHD1):c.2437+9A>C rs754826324 0.00001
NM_001160148.2(DDHD1):c.254G>A (p.Ser85Asn) rs772302393 0.00001
NM_001160148.2(DDHD1):c.2552T>C (p.Leu851Pro) rs1882056310 0.00001
NM_001160148.2(DDHD1):c.2604T>C (p.Thr868=) rs1339243582 0.00001
NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=) rs374202355 0.00001
NM_001160148.2(DDHD1):c.293C>T (p.Ser98Phe) rs907706877 0.00001
NM_001160148.2(DDHD1):c.300G>T (p.Leu100=) rs764049438 0.00001
NM_001160148.2(DDHD1):c.319G>A (p.Glu107Lys) rs770313412 0.00001
NM_001160148.2(DDHD1):c.339C>T (p.Ser113=) rs1331453621 0.00001
NM_001160148.2(DDHD1):c.368C>T (p.Pro123Leu) rs1891530318 0.00001
NM_001160148.2(DDHD1):c.379C>G (p.Pro127Ala) rs765734579 0.00001
NM_001160148.2(DDHD1):c.423G>A (p.Gly141=) rs2503569843 0.00001
NM_001160148.2(DDHD1):c.424G>A (p.Glu142Lys) rs1451425803 0.00001
NM_001160148.2(DDHD1):c.429G>A (p.Arg143=) rs561174238 0.00001
NM_001160148.2(DDHD1):c.441G>A (p.Arg147=) rs1371401647 0.00001
NM_001160148.2(DDHD1):c.455C>T (p.Ala152Val) rs1274664920 0.00001
NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter) rs1891509468 0.00001
NM_001160148.2(DDHD1):c.541C>T (p.Pro181Ser) rs143376013 0.00001
NM_001160148.2(DDHD1):c.570C>G (p.Ile190Met) rs772959138 0.00001
NM_001160148.2(DDHD1):c.576C>T (p.Leu192=) rs1891498139 0.00001
NM_001160148.2(DDHD1):c.578C>T (p.Ala193Val) rs1268767392 0.00001
NM_001160148.2(DDHD1):c.5A>G (p.Asn2Ser) rs1244792265 0.00001
NM_001160148.2(DDHD1):c.601A>G (p.Thr201Ala) rs1317228475 0.00001
NM_001160148.2(DDHD1):c.643G>A (p.Val215Met) rs1166887752 0.00001
NM_001160148.2(DDHD1):c.665C>A (p.Ala222Asp) rs760225486 0.00001
NM_001160148.2(DDHD1):c.721A>C (p.Thr241Pro) rs1186603552 0.00001
NM_001160148.2(DDHD1):c.723G>A (p.Thr241=) rs752038275 0.00001
NM_001160148.2(DDHD1):c.745G>C (p.Val249Leu) rs1387797762 0.00001
NM_001160148.2(DDHD1):c.756G>A (p.Val252=) rs1169901054 0.00001
NM_001160148.2(DDHD1):c.764A>G (p.Glu255Gly) rs1173445982 0.00001
NM_001160148.2(DDHD1):c.838+15G>A rs762784960 0.00001
NM_001160148.2(DDHD1):c.838+16G>A rs772988112 0.00001
NM_001160148.2(DDHD1):c.839-7T>A rs561534404 0.00001
NM_001160148.2(DDHD1):c.863G>A (p.Arg288His) rs904259357 0.00001
NM_001160148.2(DDHD1):c.960G>A (p.Gln320=) rs2139724476 0.00001
NC_000014.8:g.(?_53513486)_(54418940_?)dup
NM_001160148.2(DDHD1):c.*2CT[2] rs3037072
NM_001160148.2(DDHD1):c.1012+17C>A rs1170959132
NM_001160148.2(DDHD1):c.1012+645C>T rs1595179182
NM_001160148.2(DDHD1):c.1015G>A (p.Val339Ile) rs1886607376
NM_001160148.2(DDHD1):c.1044dup (p.Val349fs) rs1886604612
NM_001160148.2(DDHD1):c.1056C>T (p.His352=) rs145960430
NM_001160148.2(DDHD1):c.110G>C (p.Gly37Ala) rs553631939
NM_001160148.2(DDHD1):c.1116T>G (p.Val372=) rs1886597944
NM_001160148.2(DDHD1):c.111C>T (p.Gly37=)
NM_001160148.2(DDHD1):c.1138A>G (p.Lys380Glu)
NM_001160148.2(DDHD1):c.1141+13T>C rs2503246011
NM_001160148.2(DDHD1):c.1141+14A>C
NM_001160148.2(DDHD1):c.1142-3C>T rs1595159763
NM_001160148.2(DDHD1):c.1143A>G (p.Ala381=)
NM_001160148.2(DDHD1):c.1161A>T (p.Arg387Ser) rs1312004804
NM_001160148.2(DDHD1):c.1167T>C (p.His389=)
NM_001160148.2(DDHD1):c.1218C>A (p.Thr406=)
NM_001160148.2(DDHD1):c.1241G>A (p.Gly414Asp) rs762316191
NM_001160148.2(DDHD1):c.1249C>T (p.Gln417Ter) rs2139675094
NM_001160148.2(DDHD1):c.126G>A (p.Glu42=) rs1891571856
NM_001160148.2(DDHD1):c.1289+13_1289+24del rs1886447322
NM_001160148.2(DDHD1):c.1289+19G>T rs2503236202
NM_001160148.2(DDHD1):c.1290-13T>A
NM_001160148.2(DDHD1):c.1292T>C (p.Met431Thr) rs956579171
NM_001160148.2(DDHD1):c.130C>T (p.Leu44=) rs1595289971
NM_001160148.2(DDHD1):c.1342A>G (p.Thr448Ala) rs1884727925
NM_001160148.2(DDHD1):c.136G>T (p.Gly46Cys) rs61985140
NM_001160148.2(DDHD1):c.1371G>A (p.Trp457Ter) rs2503144489
NM_001160148.2(DDHD1):c.1385C>G (p.Thr462Ser) rs1318931375
NM_001160148.2(DDHD1):c.138C>T (p.Gly46=) rs765127742
NM_001160148.2(DDHD1):c.1396+20G>T rs2503144115
NM_001160148.2(DDHD1):c.1397-10G>T rs745641472
NM_001160148.2(DDHD1):c.1397-10_1397-7del rs759422578
NM_001160148.2(DDHD1):c.1397-5del rs752225098
NM_001160148.2(DDHD1):c.1397-9T>G rs528216709
NM_001160148.2(DDHD1):c.1402G>T (p.Val468Phe) rs1398045820
NM_001160148.2(DDHD1):c.1426G>A (p.Val476Ile) rs748624856
NM_001160148.2(DDHD1):c.1448T>C (p.Leu483Pro) rs2139912886
NM_001160148.2(DDHD1):c.1462A>G (p.Met488Val) rs1223998646
NM_001160148.2(DDHD1):c.1473del (p.Met491fs)
NM_001160148.2(DDHD1):c.1474T>G (p.Tyr492Asp) rs2503138698
NM_001160148.2(DDHD1):c.1479T>C (p.Tyr493=)
NM_001160148.2(DDHD1):c.1503+18C>T rs901645051
NM_001160148.2(DDHD1):c.1503+3_1503+6del rs1884601191
NM_001160148.2(DDHD1):c.1503+7G>C rs2139912538
NM_001160148.2(DDHD1):c.1521G>A (p.Gln507=) rs1352286023
NM_001160148.2(DDHD1):c.1551C>T (p.Phe517=) rs1883742047
NM_001160148.2(DDHD1):c.1569C>G (p.Asp523Glu) rs2503095597
NM_001160148.2(DDHD1):c.1583G>T (p.Gly528Val) rs1883739217
NM_001160148.2(DDHD1):c.1637_1638dup (p.Met547Ter) rs2139870889
NM_001160148.2(DDHD1):c.163C>G (p.Pro55Ala) rs1891566193
NM_001160148.2(DDHD1):c.1656A>G (p.Pro552=) rs1883733099
NM_001160148.2(DDHD1):c.1677G>A (p.Leu559=) rs751528984
NM_001160148.2(DDHD1):c.1709G>A (p.Arg570Gln) rs114715404
NM_001160148.2(DDHD1):c.1738C>T (p.Leu580Phe) rs1211548988
NM_001160148.2(DDHD1):c.1758T>A (p.Thr586=) rs4898778
NM_001160148.2(DDHD1):c.1758T>C (p.Thr586=) rs4898778
NM_001160148.2(DDHD1):c.1762C>T (p.Arg588Ter)
NM_001160148.2(DDHD1):c.1766G>A (p.Arg589Gln) rs1446744416
NM_001160148.2(DDHD1):c.1767-7T>C
NM_001160148.2(DDHD1):c.1780GAA[1] (p.Glu595del) rs772636180
NM_001160148.2(DDHD1):c.1786C>T (p.Arg596Trp) rs752912147
NM_001160148.2(DDHD1):c.1791T>C (p.Leu597=) rs1883515997
NM_001160148.2(DDHD1):c.179G>A (p.Arg60His) rs1339949742
NM_001160148.2(DDHD1):c.1824dup (p.Pro609fs)
NM_001160148.2(DDHD1):c.1842+13C>T
NM_001160148.2(DDHD1):c.1842+1G>A rs2139861782
NM_001160148.2(DDHD1):c.1842+6_1842+10del rs1383634209
NM_001160148.2(DDHD1):c.184del (p.Glu62fs) rs2503574858
NM_001160148.2(DDHD1):c.1874del (p.Pro624_Leu625insTer) rs2139850050
NM_001160148.2(DDHD1):c.187C>A (p.Pro63Thr) rs751194687
NM_001160148.2(DDHD1):c.187C>G (p.Pro63Ala) rs751194687
NM_001160148.2(DDHD1):c.1880T>C (p.Val627Ala) rs1595096181
NM_001160148.2(DDHD1):c.189C>G (p.Pro63=) rs1018333893
NM_001160148.2(DDHD1):c.18C>T (p.Arg6=)
NM_001160148.2(DDHD1):c.1905C>T (p.Arg635=) rs780940236
NM_001160148.2(DDHD1):c.1942A>G (p.Arg648Gly) rs2503067287
NM_001160148.2(DDHD1):c.1979C>G (p.Pro660Arg) rs2503066953
NM_001160148.2(DDHD1):c.1992+8G>T
NM_001160148.2(DDHD1):c.1993-19dup rs755741246
NM_001160148.2(DDHD1):c.1993-20A>T
NM_001160148.2(DDHD1):c.1993-3A>G rs2503054455
NM_001160148.2(DDHD1):c.1993-6dup rs1566520467
NM_001160148.2(DDHD1):c.1993-9T>A rs1314546219
NM_001160148.2(DDHD1):c.1993-9del rs755741246
NM_001160148.2(DDHD1):c.1993_2437+5del
NM_001160148.2(DDHD1):c.1996del (p.Tyr666fs) rs2503054402
NM_001160148.2(DDHD1):c.2022A>G (p.Lys674=)
NM_001160148.2(DDHD1):c.207G>T (p.Pro69=)
NM_001160148.2(DDHD1):c.2087A>G (p.Glu696Gly) rs2503053614
NM_001160148.2(DDHD1):c.2097G>C (p.Lys699Asn) rs2503053523
NM_001160148.2(DDHD1):c.2123A>T (p.Glu708Val) rs1339097140
NM_001160148.2(DDHD1):c.2166A>G (p.Pro722=) rs2139839870
NM_001160148.2(DDHD1):c.2167A>G (p.Ser723Gly) rs2139839860
NM_001160148.2(DDHD1):c.2211A>C (p.Glu737Asp) rs2139839642
NM_001160148.2(DDHD1):c.222C>T (p.His74=) rs2503574198
NM_001160148.2(DDHD1):c.2245+7T>G rs774518760
NM_001160148.2(DDHD1):c.2257A>G (p.Ile753Val) rs2503046789
NM_001160148.2(DDHD1):c.2259T>C (p.Ile753=)
NM_001160148.2(DDHD1):c.2262A>T (p.Gly754=) rs2503046755
NM_001160148.2(DDHD1):c.2290A>G (p.Arg764Gly) rs1882877582
NM_001160148.2(DDHD1):c.2299C>T (p.Arg767Cys) rs1057518484
NM_001160148.2(DDHD1):c.2320T>C (p.Ser774Pro) rs2139835148
NM_001160148.2(DDHD1):c.2341A>G (p.Met781Val) rs2503045984
NM_001160148.2(DDHD1):c.2380A>C (p.Thr794Pro) rs1555330109
NM_001160148.2(DDHD1):c.2408A>T (p.His803Leu) rs144016130
NM_001160148.2(DDHD1):c.241G>C (p.Asp81His) rs1347254772
NM_001160148.2(DDHD1):c.2437+10T>C
NM_001160148.2(DDHD1):c.2437+12C>T rs1882862124
NM_001160148.2(DDHD1):c.2437+9A>T rs754826324
NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys) rs147133475
NM_001160148.2(DDHD1):c.245C>T (p.Pro82Leu) rs1273114560
NM_001160148.2(DDHD1):c.246del (p.Cys83fs) rs2139938826
NM_001160148.2(DDHD1):c.2522-1G>T rs2139806225
NM_001160148.2(DDHD1):c.2522-8C>G rs768202098
NM_001160148.2(DDHD1):c.2541del (p.Ile847fs) rs1882057104
NM_001160148.2(DDHD1):c.2577C>G (p.Arg859=) rs1219034460
NM_001160148.2(DDHD1):c.259G>A (p.Glu87Lys) rs1891553460
NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn) rs202164262
NM_001160148.2(DDHD1):c.2668G>C (p.Asp890His) rs202164262
NM_001160148.2(DDHD1):c.2684C>T (p.Pro895Leu) rs749084227
NM_001160148.2(DDHD1):c.268G>A (p.Asp90Asn) rs1057508737
NM_001160148.2(DDHD1):c.2693A>T (p.Asp898Val) rs748343890
NM_001160148.2(DDHD1):c.276C>T (p.Ser92=) rs2503573299
NM_001160148.2(DDHD1):c.282C>T (p.Ala94=) rs750005961
NM_001160148.2(DDHD1):c.284A>C (p.Glu95Ala) rs941823104
NM_001160148.2(DDHD1):c.306C>T (p.Tyr102=) rs2139938237
NM_001160148.2(DDHD1):c.315G>A (p.Glu105=) rs774646790
NM_001160148.2(DDHD1):c.325GGC[10] (p.Gly112_Ser113insGlyGlyGlyGlyGlyGly) rs55671452
NM_001160148.2(DDHD1):c.325GGC[2] (p.Gly111_Gly112del) rs55671452
NM_001160148.2(DDHD1):c.325GGC[5] (p.Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[6] (p.Gly111_Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[8] (p.Gly109_Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[9] (p.Gly112_Ser113insGlyGlyGlyGlyGly) rs55671452
NM_001160148.2(DDHD1):c.336_337insGGCAGC (p.Gly112_Ser113insGlySer) rs140904345
NM_001160148.2(DDHD1):c.339_340insGGCGGC (p.Ser113_Ser114insGlyGly) rs778018412
NM_001160148.2(DDHD1):c.341C>T (p.Ser114Phe) rs753310279
NM_001160148.2(DDHD1):c.344dup (p.Leu115fs)
NM_001160148.2(DDHD1):c.345G>T (p.Leu115Phe) rs2139937244
NM_001160148.2(DDHD1):c.36C>A (p.Pro12=) rs1210171644
NM_001160148.2(DDHD1):c.371C>T (p.Pro124Leu) rs2503570806
NM_001160148.2(DDHD1):c.37G>A (p.Glu13Lys) rs1316038559
NM_001160148.2(DDHD1):c.383C>G (p.Thr128Arg) rs769034450
NM_001160148.2(DDHD1):c.395dup (p.Gly133fs) rs748385953
NM_001160148.2(DDHD1):c.39G>A (p.Glu13=)
NM_001160148.2(DDHD1):c.3G>A (p.Met1Ile) rs1891588735
NM_001160148.2(DDHD1):c.410G>A (p.Gly137Glu) rs1410448655
NM_001160148.2(DDHD1):c.442C>G (p.Leu148Val) rs1477137789
NM_001160148.2(DDHD1):c.450C>A (p.Gly150=) rs1273119901
NM_001160148.2(DDHD1):c.456_463dup (p.His155fs) rs781505420
NM_001160148.2(DDHD1):c.486G>C (p.Glu162Asp) rs2503568940
NM_001160148.2(DDHD1):c.487C>T (p.Leu163=) rs202213647
NM_001160148.2(DDHD1):c.528G>A (p.Lys176=)
NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup) rs752119831
NM_001160148.2(DDHD1):c.53GCG[7] (p.Gly21_Gly22dup) rs752119831
NM_001160148.2(DDHD1):c.553T>C (p.Tyr185His) rs753134553
NM_001160148.2(DDHD1):c.55_56insTCGGCG (p.Gly18_Gly19insValGly) rs1891581048
NM_001160148.2(DDHD1):c.561G>A (p.Ser187=) rs1161786631
NM_001160148.2(DDHD1):c.564C>T (p.Leu188=) rs943322491
NM_001160148.2(DDHD1):c.565C>G (p.Arg189Gly) rs1595287243
NM_001160148.2(DDHD1):c.590T>C (p.Leu197Pro) rs978717532
NM_001160148.2(DDHD1):c.5dup (p.Asn2fs) rs2139941138
NM_001160148.2(DDHD1):c.60C>T (p.Gly20=) rs1381214648
NM_001160148.2(DDHD1):c.610C>T (p.Arg204Trp) rs1303476683
NM_001160148.2(DDHD1):c.620G>T (p.Gly207Val) rs754012753
NM_001160148.2(DDHD1):c.641A>G (p.His214Arg) rs1595286866
NM_001160148.2(DDHD1):c.657G>A (p.Thr219=) rs768308854
NM_001160148.2(DDHD1):c.668C>G (p.Ser223Cys) rs2139934413
NM_001160148.2(DDHD1):c.684T>C (p.Asp228=) rs1382953265
NM_001160148.2(DDHD1):c.688G>T (p.Asp230Tyr) rs147832037
NM_001160148.2(DDHD1):c.688_689delinsAT (p.Asp230Ile) rs1891474773
NM_001160148.2(DDHD1):c.700G>T (p.Ala234Ser) rs200233648
NM_001160148.2(DDHD1):c.702_708del (p.Cys235fs)
NM_001160148.2(DDHD1):c.705C>T (p.Cys235=)
NM_001160148.2(DDHD1):c.716A>G (p.Gln239Arg) rs1189242936
NM_001160148.2(DDHD1):c.718A>G (p.Ser240Gly) rs1891471025
NM_001160148.2(DDHD1):c.730C>T (p.His244Tyr) rs2503565199
NM_001160148.2(DDHD1):c.731del (p.His244fs) rs2503565184
NM_001160148.2(DDHD1):c.732C>G (p.His244Gln)
NM_001160148.2(DDHD1):c.765G>T (p.Glu255Asp) rs2503564641
NM_001160148.2(DDHD1):c.812G>A (p.Gly271Glu) rs747496321
NM_001160148.2(DDHD1):c.816G>A (p.Glu272=) rs2503563831
NM_001160148.2(DDHD1):c.81C>T (p.Gly27=)
NM_001160148.2(DDHD1):c.838+18G>T rs980638622
NM_001160148.2(DDHD1):c.839-13T>C
NM_001160148.2(DDHD1):c.84A>T (p.Ser28=)
NM_001160148.2(DDHD1):c.850A>G (p.Ile284Val) rs371584872
NM_001160148.2(DDHD1):c.934C>G (p.His312Asp)
NM_001160148.2(DDHD1):c.948T>C (p.Phe316=)
NM_001160148.2(DDHD1):c.954C>A (p.Gly318=)
NM_001160148.2(DDHD1):c.971del (p.Asn324fs) rs1887484564
NM_001160148.2(DDHD1):c.983_985del (p.Glu328del) rs780662262
NM_001160148.2(DDHD1):c.98C>A (p.Ala33Glu) rs746372224
NM_001160148.2(DDHD1):c.991A>C (p.Lys331Gln) rs2503298344

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