ClinVar Miner

List of variants studied for lethal multiple pterygium syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 760
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NC_000002.12:g.174764872T>C rs16862847 0.13301
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_000751.3(CHRND):c.932+20G>A rs114022008 0.00793
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_000751.3(CHRND):c.1253-8G>A rs144545619 0.00548
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000751.3(CHRND):c.1371+7G>T rs188395796 0.00350
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=) rs74533173 0.00185
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr) rs149292107 0.00079
NM_000079.4(CHRNA1):c.189+12G>A rs201168898 0.00075
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) rs144533405 0.00065
NM_000751.3(CHRND):c.1253-9C>T rs2853458 0.00057
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) rs146899588 0.00054
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn) rs202209156 0.00051
NM_000751.3(CHRND):c.408C>T (p.Tyr136=) rs112921420 0.00046
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000751.3(CHRND):c.1416C>T (p.Leu472=) rs145857136 0.00041
NM_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_000079.4(CHRNA1):c.780G>A (p.Gly260=) rs148502695 0.00036
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_000751.3(CHRND):c.44C>T (p.Ala15Val) rs142531974 0.00036
NM_000751.3(CHRND):c.813G>A (p.Pro271=) rs147073853 0.00036
NM_000751.3(CHRND):c.1066C>T (p.Pro356Ser) rs147050939 0.00035
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser) rs139190636 0.00035
NM_000751.3(CHRND):c.619+4C>A rs367936158 0.00032
NM_000751.3(CHRND):c.933-9T>C rs199592458 0.00031
NM_000751.3(CHRND):c.1067C>T (p.Pro356Leu) rs200671975 0.00030
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) rs367751078 0.00026
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_000751.3(CHRND):c.805T>C (p.Tyr269His) rs141627135 0.00025
NM_000079.4(CHRNA1):c.861G>A (p.Thr287=) rs144020157 0.00022
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=) rs762327875 0.00021
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) rs151081792 0.00020
NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu) rs137852803 0.00020
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_000751.3(CHRND):c.932+10G>A rs370309294 0.00020
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr) rs146863119 0.00019
NM_000751.3(CHRND):c.728G>A (p.Arg243His) rs148869069 0.00019
NM_000079.4(CHRNA1):c.546C>T (p.Ser182=) rs749002411 0.00016
NM_000079.4(CHRNA1):c.945C>T (p.Val315=) rs371524795 0.00016
NM_000079.4(CHRNA1):c.324A>C (p.Pro108=) rs199555685 0.00014
NM_000079.4(CHRNA1):c.547G>A (p.Asp183Asn) rs145421881 0.00014
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.711C>T (p.Thr237=) rs752356816 0.00014
NM_000751.3(CHRND):c.821-2A>C rs762875734 0.00014
NM_000751.3(CHRND):c.89G>A (p.Arg30Gln) rs142992853 0.00014
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val) rs768878508 0.00013
NM_000079.4(CHRNA1):c.1333G>A (p.Val445Met) rs372104868 0.00013
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_000751.3(CHRND):c.199-19C>T rs145984749 0.00013
NM_000751.3(CHRND):c.305G>A (p.Arg102His) rs147919651 0.00013
NM_000079.4(CHRNA1):c.320G>A (p.Arg107His) rs376844505 0.00012
NM_000751.3(CHRND):c.626G>A (p.Gly209Glu) rs754652646 0.00012
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000079.4(CHRNA1):c.189+18G>A rs201082834 0.00011
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) rs141733086 0.00011
NM_000751.3(CHRND):c.620-7C>T rs532055784 0.00011
NM_000079.4(CHRNA1):c.190-18C>T rs769989280 0.00010
NM_000751.3(CHRND):c.1048-7G>T rs369026633 0.00010
NM_000751.3(CHRND):c.1125G>A (p.Val375=) rs143246852 0.00010
NM_000751.3(CHRND):c.128G>A (p.Arg43Gln) rs759448201 0.00010
NM_000079.4(CHRNA1):c.372G>A (p.Lys124=) rs143047599 0.00009
NM_000079.4(CHRNA1):c.657G>C (p.Leu219=) rs375856493 0.00009
NM_000751.3(CHRND):c.198+7G>A rs372767822 0.00009
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086 0.00009
NM_000751.3(CHRND):c.705C>T (p.Asp235=) rs145634347 0.00009
NM_000079.4(CHRNA1):c.525C>T (p.Val175=) rs186421442 0.00008
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_000751.3(CHRND):c.1531G>A (p.Val511Met) rs759384601 0.00008
NM_000751.3(CHRND):c.360C>T (p.Asp120=) rs764641517 0.00008
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000751.3(CHRND):c.53-16C>T rs776242631 0.00008
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) rs374093236 0.00007
NM_000751.3(CHRND):c.1035G>A (p.Glu345=) rs548168819 0.00007
NM_000751.3(CHRND):c.1126C>T (p.Arg376Trp) rs368819172 0.00007
NM_000751.3(CHRND):c.620-8G>A rs377074477 0.00007
NM_000751.3(CHRND):c.892C>T (p.Arg298Cys) rs377455260 0.00007
NM_000079.4(CHRNA1):c.1199A>G (p.Lys400Arg) rs137916282 0.00006
NM_000079.4(CHRNA1):c.1242+10G>A rs758078454 0.00006
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000079.4(CHRNA1):c.541-15del rs748211851 0.00006
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys) rs368979094 0.00006
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile) rs200102479 0.00006
NM_000079.4(CHRNA1):c.927C>A (p.Ile309=) rs758834482 0.00006
NM_000079.4(CHRNA1):c.955C>T (p.His319Tyr) rs150110639 0.00006
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000751.3(CHRND):c.1476C>T (p.Gly492=) rs748744922 0.00006
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile) rs567130034 0.00006
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) rs146905561 0.00006
NM_000751.3(CHRND):c.415G>A (p.Val139Met) rs147452877 0.00006
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys) rs144063384 0.00006
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln) rs143002322 0.00006
NM_000079.4(CHRNA1):c.112G>A (p.Val38Met) rs569049580 0.00005
NM_000079.4(CHRNA1):c.575A>G (p.Glu192Gly) rs746009147 0.00005
NM_000079.4(CHRNA1):c.63C>T (p.Ser21=) rs751313425 0.00005
NM_000751.3(CHRND):c.225C>G (p.Thr75=) rs146508326 0.00005
NM_000751.3(CHRND):c.260G>A (p.Arg87Gln) rs201264983 0.00005
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639 0.00005
NM_000751.3(CHRND):c.582C>T (p.Pro194=) rs773089899 0.00005
NM_000751.3(CHRND):c.849G>A (p.Ser283=) rs749757968 0.00005
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) rs886055151 0.00004
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000079.4(CHRNA1):c.137G>A (p.Arg46His) rs149851833 0.00004
NM_000079.4(CHRNA1):c.144C>T (p.Val48=) rs766106058 0.00004
NM_000079.4(CHRNA1):c.189+16T>A rs1419917128 0.00004
NM_000079.4(CHRNA1):c.235-18G>A rs1162280178 0.00004
NM_000079.4(CHRNA1):c.345-10C>T rs775001526 0.00004
NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser) rs772271812 0.00004
NM_000079.4(CHRNA1):c.675C>T (p.Phe225=) rs531534298 0.00004
NM_000079.4(CHRNA1):c.750C>T (p.Gly250=) rs186607397 0.00004
NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys) rs536229089 0.00004
NM_000079.4(CHRNA1):c.77G>A (p.Arg26His) rs777813669 0.00004
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_000751.3(CHRND):c.1252+10C>T rs373581541 0.00004
NM_000751.3(CHRND):c.1252+1G>A rs1285705072 0.00004
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000751.3(CHRND):c.1319A>T (p.Asp440Val) rs373747090 0.00004
NM_000751.3(CHRND):c.1442T>C (p.Met481Thr) rs777430398 0.00004
NM_000751.3(CHRND):c.160G>A (p.Val54Ile) rs369869476 0.00004
NM_000751.3(CHRND):c.226A>G (p.Asn76Asp) rs200755491 0.00004
NM_000751.3(CHRND):c.390C>T (p.Asn130=) rs55700159 0.00004
NM_000751.3(CHRND):c.611G>T (p.Gly204Val) rs531000772 0.00004
NM_000751.3(CHRND):c.620-9C>T rs112019415 0.00004
NM_000751.3(CHRND):c.988G>A (p.Val330Met) rs773972915 0.00004
NM_000079.4(CHRNA1):c.1088C>T (p.Thr363Ile) rs146771663 0.00003
NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys) rs199545638 0.00003
NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=) rs776420240 0.00003
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val) rs146464862 0.00003
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_000079.4(CHRNA1):c.801C>T (p.Ile267=) rs1397059147 0.00003
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) rs746404398 0.00003
NM_000751.3(CHRND):c.1100A>G (p.Asp367Gly) rs770099656 0.00003
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln) rs563035306 0.00003
NM_000751.3(CHRND):c.1255C>T (p.Arg419Trp) rs140455307 0.00003
NM_000751.3(CHRND):c.178C>A (p.Leu60Ile) rs200743096 0.00003
NM_000751.3(CHRND):c.353+14C>G rs765810417 0.00003
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp) rs777271963 0.00003
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys) rs376642208 0.00003
NM_000751.3(CHRND):c.882C>T (p.Leu294=) rs1178183798 0.00003
NM_000079.4(CHRNA1):c.1162A>C (p.Lys388Gln) rs202090282 0.00002
NM_000079.4(CHRNA1):c.1171G>A (p.Glu391Lys) rs762411124 0.00002
NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=) rs779379425 0.00002
NM_000079.4(CHRNA1):c.145G>A (p.Val49Met) rs1019158028 0.00002
NM_000079.4(CHRNA1):c.488G>C (p.Ser163Thr) rs375645058 0.00002
NM_000079.4(CHRNA1):c.539C>T (p.Pro180Leu) rs373561258 0.00002
NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln) rs769337073 0.00002
NM_000079.4(CHRNA1):c.841G>A (p.Val281Met) rs764265345 0.00002
NM_000079.4(CHRNA1):c.895C>T (p.Leu299=) rs768256648 0.00002
NM_000079.4(CHRNA1):c.919G>A (p.Ala307Thr) rs550013897 0.00002
NM_000079.4(CHRNA1):c.942C>T (p.Ile314=) rs200535960 0.00002
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) rs762938254 0.00002
NM_000751.3(CHRND):c.1047+16G>A rs1287834322 0.00002
NM_000751.3(CHRND):c.1047+19G>A rs749274268 0.00002
NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln) rs564930869 0.00002
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp) rs55868108 0.00002
NM_000751.3(CHRND):c.1371+10C>A rs762637499 0.00002
NM_000751.3(CHRND):c.1372G>A (p.Glu458Lys) rs140982683 0.00002
NM_000751.3(CHRND):c.1411C>T (p.Arg471Cys) rs533115724 0.00002
NM_000751.3(CHRND):c.1417dup (p.Cys473fs) rs1468893310 0.00002
NM_000751.3(CHRND):c.1552T>G (p.Ter518Glu) rs756238142 0.00002
NM_000751.3(CHRND):c.198+15G>A rs764503079 0.00002
NM_000751.3(CHRND):c.315G>A (p.Pro105=) rs770730077 0.00002
NM_000751.3(CHRND):c.463G>A (p.Val155Ile) rs767201456 0.00002
NM_000751.3(CHRND):c.698G>A (p.Arg233His) rs146416320 0.00002
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000751.3(CHRND):c.928G>A (p.Gly310Ser) rs771670415 0.00002
NM_000751.3(CHRND):c.932+16G>A rs759403975 0.00002
NM_000079.4(CHRNA1):c.1002+17C>G rs777724002 0.00001
NM_000079.4(CHRNA1):c.1003-9T>C rs769523120 0.00001
NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val) rs755304714 0.00001
NM_000079.4(CHRNA1):c.102C>A (p.Asp34Glu) rs377254749 0.00001
NM_000079.4(CHRNA1):c.1045A>G (p.Met349Val) rs760175390 0.00001
NM_000079.4(CHRNA1):c.1097T>C (p.Ile366Thr) rs942359952 0.00001
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=) rs767048858 0.00001
NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg) rs776811077 0.00001
NM_000079.4(CHRNA1):c.118C>T (p.Arg40Trp) rs774423842 0.00001
NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln) rs1180739514 0.00001
NM_000079.4(CHRNA1):c.1244C>T (p.Ala415Val) rs200394375 0.00001
NM_000079.4(CHRNA1):c.1245G>A (p.Ala415=) rs372181669 0.00001
NM_000079.4(CHRNA1):c.124G>T (p.Val42Leu) rs1376655390 0.00001
NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=) rs1553541913 0.00001
NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile) rs754320308 0.00001
NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=) rs761249168 0.00001
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe) rs759664482 0.00001
NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=) rs137852808 0.00001
NM_000079.4(CHRNA1):c.1318A>G (p.Ile440Val) rs1479795714 0.00001
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) rs771587252 0.00001
NM_000079.4(CHRNA1):c.157G>A (p.Val53Met) rs779877755 0.00001
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter) rs750329103 0.00001
NM_000079.4(CHRNA1):c.177G>C (p.Gln59His) rs199899006 0.00001
NM_000079.4(CHRNA1):c.265C>G (p.Pro89Ala) rs912456299 0.00001
NM_000079.4(CHRNA1):c.270T>C (p.Asp90=) rs746590795 0.00001
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) rs779169597 0.00001
NM_000079.4(CHRNA1):c.314T>C (p.Ile105Thr) rs764809207 0.00001
NM_000079.4(CHRNA1):c.327C>T (p.Asp109=) rs1684006081 0.00001
NM_000079.4(CHRNA1):c.330T>C (p.Leu110=) rs763984762 0.00001
NM_000079.4(CHRNA1):c.344+12G>C rs774924187 0.00001
NM_000079.4(CHRNA1):c.344+6C>A rs1438960872 0.00001
NM_000079.4(CHRNA1):c.345-14T>A rs776569258 0.00001
NM_000079.4(CHRNA1):c.35T>C (p.Leu12Pro) rs765824911 0.00001
NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser) rs1235810008 0.00001
NM_000079.4(CHRNA1):c.439T>C (p.Tyr147His) rs1224199250 0.00001
NM_000079.4(CHRNA1):c.449T>G (p.Ile150Ser) rs1040313532 0.00001
NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met) rs200163630 0.00001
NM_000079.4(CHRNA1):c.453C>T (p.Ile151=) rs372122272 0.00001
NM_000079.4(CHRNA1):c.454G>A (p.Val152Ile) rs137852807 0.00001
NM_000079.4(CHRNA1):c.514G>A (p.Asp172Asn) rs1232135247 0.00001
NM_000079.4(CHRNA1):c.51C>T (p.Leu17=) rs751402231 0.00001
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.579C>T (p.Ser193=) rs534185815 0.00001
NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg) rs201147926 0.00001
NM_000079.4(CHRNA1):c.594C>G (p.Ile198Met) rs1054392349 0.00001
NM_000079.4(CHRNA1):c.642C>T (p.Pro214=) rs757027133 0.00001
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) rs745355427 0.00001
NM_000079.4(CHRNA1):c.706G>A (p.Val236Ile) rs1332781017 0.00001
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) rs137852798 0.00001
NM_000079.4(CHRNA1):c.735C>T (p.Phe245=) rs773397465 0.00001
NM_000079.4(CHRNA1):c.749G>A (p.Gly250Asp) rs1261346012 0.00001
NM_000079.4(CHRNA1):c.778+18G>A rs375471139 0.00001
NM_000079.4(CHRNA1):c.779-1_779insA rs771260711 0.00001
NM_000079.4(CHRNA1):c.838A>G (p.Ile280Val) rs1184577812 0.00001
NM_000079.4(CHRNA1):c.840C>T (p.Ile280=) rs754070026 0.00001
NM_000079.4(CHRNA1):c.860C>T (p.Thr287Met) rs370345788 0.00001
NM_000079.4(CHRNA1):c.924C>T (p.Ser308=) rs1175922060 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000751.3(CHRND):c.1084T>A (p.Ser362Thr) rs778769803 0.00001
NM_000751.3(CHRND):c.1088G>A (p.Arg363His) rs748108743 0.00001
NM_000751.3(CHRND):c.1122G>A (p.Leu374=) rs1438844656 0.00001
NM_000751.3(CHRND):c.1143G>C (p.Leu381=) rs1464265235 0.00001
NM_000751.3(CHRND):c.1199T>C (p.Met400Thr) rs774443865 0.00001
NM_000751.3(CHRND):c.1200G>C (p.Met400Ile) rs1691804529 0.00001
NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys) rs1011570439 0.00001
NM_000751.3(CHRND):c.1237C>T (p.Arg413Cys) rs1242056715 0.00001
NM_000751.3(CHRND):c.129G>A (p.Arg43=) rs765106484 0.00001
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_000751.3(CHRND):c.132C>T (p.Pro44=) rs774771779 0.00001
NM_000751.3(CHRND):c.1330T>C (p.Phe444Leu) rs772140028 0.00001
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr) rs573680102 0.00001
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr) rs1085307559 0.00001
NM_000751.3(CHRND):c.1434G>A (p.Thr478=) rs554876874 0.00001
NM_000751.3(CHRND):c.1452C>A (p.Gly484=) rs1221932092 0.00001
NM_000751.3(CHRND):c.1462A>G (p.Ile488Val) rs1317082231 0.00001
NM_000751.3(CHRND):c.1497C>G (p.Pro499=) rs772552126 0.00001
NM_000751.3(CHRND):c.1527C>T (p.Tyr509=) rs572853269 0.00001
NM_000751.3(CHRND):c.1544G>A (p.Arg515His) rs570911554 0.00001
NM_000751.3(CHRND):c.155T>A (p.Val52Glu) rs1260266473 0.00001
NM_000751.3(CHRND):c.159C>T (p.Asp53=) rs370725931 0.00001
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe) rs752410720 0.00001
NM_000751.3(CHRND):c.199-12G>A rs937840228 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys) rs121909509 0.00001
NM_000751.3(CHRND):c.243+1G>A rs751237539 0.00001
NM_000751.3(CHRND):c.244G>A (p.Gly82Ser) rs794727630 0.00001
NM_000751.3(CHRND):c.264G>C (p.Leu88=) rs1029592483 0.00001
NM_000751.3(CHRND):c.314C>T (p.Pro105Leu) rs769160054 0.00001
NM_000751.3(CHRND):c.375C>T (p.Ile125=) rs756324982 0.00001
NM_000751.3(CHRND):c.380A>G (p.Tyr127Cys) rs1231032358 0.00001
NM_000751.3(CHRND):c.435C>T (p.Ala145=) rs1691569899 0.00001
NM_000751.3(CHRND):c.446C>T (p.Ser149Phe) rs762904291 0.00001
NM_000751.3(CHRND):c.447C>T (p.Ser149=) rs371097455 0.00001
NM_000751.3(CHRND):c.510-16C>A rs1038117512 0.00001
NM_000751.3(CHRND):c.524C>T (p.Thr175Met) rs752113659 0.00001
NM_000751.3(CHRND):c.571C>T (p.Arg191Cys) rs778217557 0.00001
NM_000751.3(CHRND):c.606T>C (p.Pro202=) rs762417696 0.00001
NM_000751.3(CHRND):c.624C>T (p.Asn208=) rs1473541483 0.00001
NM_000751.3(CHRND):c.647G>A (p.Arg216Gln) rs746959201 0.00001
NM_000751.3(CHRND):c.662A>G (p.Asn221Ser) rs774497252 0.00001
NM_000751.3(CHRND):c.70G>A (p.Glu24Lys) rs144310284 0.00001
NM_000751.3(CHRND):c.723C>G (p.Ile241Met) rs1416558563 0.00001
NM_000751.3(CHRND):c.769T>C (p.Cys257Arg) rs776218605 0.00001
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser) rs373187583 0.00001
NM_000751.3(CHRND):c.84G>A (p.Leu28=) rs1323332117 0.00001
NM_000751.3(CHRND):c.88C>T (p.Arg30Trp) rs1047325384 0.00001
NM_000751.3(CHRND):c.890A>G (p.Lys297Arg) rs187055404 0.00001
NM_000751.3(CHRND):c.899C>A (p.Pro300His) rs145981548 0.00001
NM_000751.3(CHRND):c.932+3G>A rs772540464 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000751.3(CHRND):c.945C>T (p.Phe315=) rs777931139 0.00001
NM_000751.3(CHRND):c.957G>A (p.Leu319=) rs1691699126 0.00001
NM_000751.3(CHRND):c.984C>G (p.Val328=) rs763965619 0.00001
NC_000002.11:g.(?_175612832)_(175619162_?)del
NC_000002.11:g.(?_175612842)_(175629600_?)dup
NC_000002.11:g.(?_175612852)_(175619162_?)del
NC_000002.11:g.(?_175612852)_(175629122_?)del
NC_000002.11:g.(?_175612852)_(175629122_?)dup
NC_000002.11:g.(?_233194503)_(233399072_?)dup
NC_000002.11:g.(?_233320910)_(233410426_?)dup
NC_000002.11:g.(?_233390906)_(233410446_?)dup
NC_000002.11:g.(?_233390926)_(233400022_?)del
NC_000002.11:g.(?_233396141)_(233398358_?)del
NC_000002.12:g.(?_174747592)_(174754414_?)del
NM_000079.4(CHRNA1):c.1002+10G>C
NM_000079.4(CHRNA1):c.1002+14C>G
NM_000079.4(CHRNA1):c.1002+14C>T
NM_000079.4(CHRNA1):c.1002+5del
NM_000079.4(CHRNA1):c.1002G>A (p.Lys334=)
NM_000079.4(CHRNA1):c.1003-10T>A rs2105344468
NM_000079.4(CHRNA1):c.1003-12T>A rs771405347
NM_000079.4(CHRNA1):c.1003-12_1003-8del rs1251304590
NM_000079.4(CHRNA1):c.1003-3T>C rs1683789512
NM_000079.4(CHRNA1):c.1003-6T>C
NM_000079.4(CHRNA1):c.1003-8T>C rs1683789605
NM_000079.4(CHRNA1):c.1003-8dup
NM_000079.4(CHRNA1):c.1003-9T>A rs769523120
NM_000079.4(CHRNA1):c.1011C>T (p.Ile337=)
NM_000079.4(CHRNA1):c.1012G>C (p.Asp338His)
NM_000079.4(CHRNA1):c.1016C>T (p.Thr339Ile)
NM_000079.4(CHRNA1):c.1021C>T (p.Pro341Ser) rs2105344415
NM_000079.4(CHRNA1):c.103T>G (p.Tyr35Asp) rs1558914914
NM_000079.4(CHRNA1):c.1040C>G (p.Ser347Cys) rs1683788656
NM_000079.4(CHRNA1):c.1047G>A (p.Met349Ile) rs1683788450
NM_000079.4(CHRNA1):c.1048A>C (p.Lys350Gln) rs1683788396
NM_000079.4(CHRNA1):c.1053A>C (p.Arg351Ser) rs2105344397
NM_000079.4(CHRNA1):c.1055C>T (p.Pro352Leu)
NM_000079.4(CHRNA1):c.1058C>A (p.Ser353Tyr) rs1574002549
NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)
NM_000079.4(CHRNA1):c.1071A>G (p.Gln357=)
NM_000079.4(CHRNA1):c.1079del (p.Lys360fs) rs768863116
NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs)
NM_000079.4(CHRNA1):c.1088C>G (p.Thr363Arg) rs146771663
NM_000079.4(CHRNA1):c.1123C>T (p.Pro375Ser)
NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=)
NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)
NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)
NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe)
NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=) rs141280544
NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)
NM_000079.4(CHRNA1):c.1189G>A (p.Glu397Lys)
NM_000079.4(CHRNA1):c.118C>A (p.Arg40=) rs774423842
NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=) rs1683784412
NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr)
NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)
NM_000079.4(CHRNA1):c.1206C>T (p.Ile402=)
NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)
NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn) rs1291588996
NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys)
NM_000079.4(CHRNA1):c.1242+11T>A
NM_000079.4(CHRNA1):c.1242+17G>A
NM_000079.4(CHRNA1):c.1243-3C>T rs1574002055
NM_000079.4(CHRNA1):c.1243-7C>T
NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=)
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) rs17838545
NM_000079.4(CHRNA1):c.1248G>T (p.Ala416=)
NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)
NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=)
NM_000079.4(CHRNA1):c.1267G>A (p.Ala423Thr)
NM_000079.4(CHRNA1):c.1282C>A (p.His428Asn)
NM_000079.4(CHRNA1):c.1284C>T (p.His428=) rs1173467478
NM_000079.4(CHRNA1):c.1307T>C (p.Leu436Pro)
NM_000079.4(CHRNA1):c.1334T>A (p.Val445Glu) rs1304235259
NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp)
NM_000079.4(CHRNA1):c.1345C>T (p.Arg449Ter) rs1345496434
NM_000079.4(CHRNA1):c.1348C>T (p.Leu450Phe)
NM_000079.4(CHRNA1):c.136C>G (p.Arg46Gly)
NM_000079.4(CHRNA1):c.136C>T (p.Arg46Cys)
NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser) rs567683036
NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)
NM_000079.4(CHRNA1):c.14C>G (p.Pro5Arg)
NM_000079.4(CHRNA1):c.150G>T (p.Glu50Asp)
NM_000079.4(CHRNA1):c.155C>T (p.Thr52Ile)
NM_000079.4(CHRNA1):c.181A>C (p.Ile61Leu) rs1574011516
NM_000079.4(CHRNA1):c.189+4A>T rs1684049743
NM_000079.4(CHRNA1):c.189+7_189+8insCCT rs1348568801
NM_000079.4(CHRNA1):c.18C>T (p.Leu6=)
NM_000079.4(CHRNA1):c.190-12T>A
NM_000079.4(CHRNA1):c.190-13dup rs34695580
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.196G>A (p.Val66Ile)
NM_000079.4(CHRNA1):c.218A>C (p.Asn73Thr) rs141121555
NM_000079.4(CHRNA1):c.222del (p.Arg75fs)
NM_000079.4(CHRNA1):c.235-14G>A
NM_000079.4(CHRNA1):c.235-19T>C rs1287601157
NM_000079.4(CHRNA1):c.235-20C>T
NM_000079.4(CHRNA1):c.235-8G>T
NM_000079.4(CHRNA1):c.235-9dup rs1558913982
NM_000079.4(CHRNA1):c.23T>C (p.Leu8Pro)
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter) rs1684009556
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn) rs1684008469
NM_000079.4(CHRNA1):c.273C>G (p.Asp91Glu) rs1684008402
NM_000079.4(CHRNA1):c.274T>A (p.Tyr92Asn)
NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)
NM_000079.4(CHRNA1):c.279C>T (p.Gly93=) rs771749641
NM_000079.4(CHRNA1):c.280G>A (p.Gly94Ser) rs199470444
NM_000079.4(CHRNA1):c.283G>A (p.Val95Met) rs757698567
NM_000079.4(CHRNA1):c.284T>A (p.Val95Glu)
NM_000079.4(CHRNA1):c.292dup (p.Ile98fs) rs753250273
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.303T>C (p.Pro101=) rs2105350637
NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)
NM_000079.4(CHRNA1):c.320G>T (p.Arg107Leu) rs376844505
NM_000079.4(CHRNA1):c.344+14A>G rs1458805086
NM_000079.4(CHRNA1):c.344+15T>C
NM_000079.4(CHRNA1):c.344+17G>C
NM_000079.4(CHRNA1):c.345-19T>A rs572077048
NM_000079.4(CHRNA1):c.345-3T>C
NM_000079.4(CHRNA1):c.345-63_403del
NM_000079.4(CHRNA1):c.345-7A>G rs759145005
NM_000079.4(CHRNA1):c.345-7del
NM_000079.4(CHRNA1):c.348A>C (p.Ala116=)
NM_000079.4(CHRNA1):c.357C>G (p.Asp119Glu) rs773509048
NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr)
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter) rs1683929269
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
NM_000079.4(CHRNA1):c.383T>G (p.Val128Gly) rs1553469444
NM_000079.4(CHRNA1):c.387C>T (p.Leu129=)
NM_000079.4(CHRNA1):c.399T>A (p.Thr133=) rs1443518305
NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)
NM_000079.4(CHRNA1):c.416C>T (p.Thr139Ile)
NM_000079.4(CHRNA1):c.419C>T (p.Pro140Leu) rs1486937748
NM_000079.4(CHRNA1):c.424G>T (p.Ala142Ser)
NM_000079.4(CHRNA1):c.43+11G>A
NM_000079.4(CHRNA1):c.43+20G>T
NM_000079.4(CHRNA1):c.431T>C (p.Phe144Ser)
NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn)
NM_000079.4(CHRNA1):c.44-10G>T rs2105352253
NM_000079.4(CHRNA1):c.44-5C>G rs2105352241
NM_000079.4(CHRNA1):c.44-9C>A rs2105352249
NM_000079.4(CHRNA1):c.451A>G (p.Ile151Val)
NM_000079.4(CHRNA1):c.451A>T (p.Ile151Phe) rs560121316
NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)
NM_000079.4(CHRNA1):c.460C>T (p.His154Tyr) rs1161547381
NM_000079.4(CHRNA1):c.463T>C (p.Phe155Leu)
NM_000079.4(CHRNA1):c.484T>A (p.Cys162Ser)
NM_000079.4(CHRNA1):c.484T>C (p.Cys162Arg) rs773556274
NM_000079.4(CHRNA1):c.510C>G (p.Thr170=)
NM_000079.4(CHRNA1):c.516C>T (p.Asp172=)
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000079.4(CHRNA1):c.52G>A (p.Val18Ile) rs202221890
NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu) rs202221890
NM_000079.4(CHRNA1):c.530C>A (p.Ala177Asp) rs1487449348
NM_000079.4(CHRNA1):c.530C>T (p.Ala177Val)
NM_000079.4(CHRNA1):c.540+16A>C
NM_000079.4(CHRNA1):c.540+17T>A
NM_000079.4(CHRNA1):c.540G>A (p.Pro180=)
NM_000079.4(CHRNA1):c.541-12T>C rs1193318305
NM_000079.4(CHRNA1):c.541-13C>T
NM_000079.4(CHRNA1):c.541-17del
NM_000079.4(CHRNA1):c.548A>C (p.Asp183Ala) rs1444098674
NM_000079.4(CHRNA1):c.548A>T (p.Asp183Val) rs1444098674
NM_000079.4(CHRNA1):c.556G>C (p.Asp186His)
NM_000079.4(CHRNA1):c.556G>T (p.Asp186Tyr)
NM_000079.4(CHRNA1):c.561G>A (p.Leu187=)
NM_000079.4(CHRNA1):c.561G>C (p.Leu187=)
NM_000079.4(CHRNA1):c.562A>C (p.Ser188Arg) rs1683909326
NM_000079.4(CHRNA1):c.581G>A (p.Gly194Glu)
NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)
NM_000079.4(CHRNA1):c.591G>A (p.Val197=)
NM_000079.4(CHRNA1):c.600G>A (p.Glu200=) rs2105347898
NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp)
NM_000079.4(CHRNA1):c.639C>T (p.Cys213=) rs1574006599
NM_000079.4(CHRNA1):c.640C>T (p.Pro214Ser) rs1574006591
NM_000079.4(CHRNA1):c.648C>G (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.648C>T (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.653A>C (p.Tyr218Ser) rs1574006535
NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)
NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val)
NM_000079.4(CHRNA1):c.672C>T (p.His224=) rs1574006465
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His) rs137852809
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) rs137852809
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=) rs143252724
NM_000079.4(CHRNA1):c.708C>T (p.Val236=)
NM_000079.4(CHRNA1):c.70G>A (p.Glu24Lys)
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000079.4(CHRNA1):c.745A>C (p.Thr249Pro) rs1683900619
NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)
NM_000079.4(CHRNA1):c.746C>G (p.Thr249Ser) rs770040016
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.75C>T (p.Thr25=)
NM_000079.4(CHRNA1):c.769A>G (p.Thr257Ala) rs1558911687
NM_000079.4(CHRNA1):c.778+2T>A
NM_000079.4(CHRNA1):c.778+4G>T
NM_000079.4(CHRNA1):c.788T>C (p.Met263Thr)
NM_000079.4(CHRNA1):c.795G>A (p.Leu265=)
NM_000079.4(CHRNA1):c.7C>T (p.Pro3Ser) rs1286101751
NM_000079.4(CHRNA1):c.802T>C (p.Ser268Pro) rs1683819520
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.811C>A (p.Leu271Met)
NM_000079.4(CHRNA1):c.813G>C (p.Leu271=) rs374093236
NM_000079.4(CHRNA1):c.824T>C (p.Val275Ala) rs2105345399
NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser)
NM_000079.4(CHRNA1):c.828C>T (p.Phe276=) rs1683818752
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter) rs1208011631
NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg)
NM_000079.4(CHRNA1):c.874C>T (p.Pro292Ser)
NM_000079.4(CHRNA1):c.876C>A (p.Pro292=)
NM_000079.4(CHRNA1):c.878T>C (p.Leu293Ser) rs2105345351
NM_000079.4(CHRNA1):c.887A>G (p.Lys296Arg)
NM_000079.4(CHRNA1):c.893T>C (p.Met298Thr) rs1574003598
NM_000079.4(CHRNA1):c.901A>G (p.Thr301Ala) rs1683816643
NM_000079.4(CHRNA1):c.902C>A (p.Thr301Asn) rs2105345315
NM_000079.4(CHRNA1):c.905T>A (p.Met302Lys) rs2105345309
NM_000079.4(CHRNA1):c.923C>T (p.Ser308Phe) rs1553469062
NM_000079.4(CHRNA1):c.925A>C (p.Ile309Leu)
NM_000079.4(CHRNA1):c.943G>A (p.Val315Ile)
NM_000079.4(CHRNA1):c.954A>C (p.Thr318=)
NM_000079.4(CHRNA1):c.978T>A (p.His326Gln) rs1574003456
NM_000079.4(CHRNA1):c.984G>A (p.Met328Ile) rs2105345213
NM_000079.4(CHRNA1):c.989A>G (p.Asn330Ser)
NM_000079.4(CHRNA1):c.997C>G (p.Arg333Gly) rs374391312
NM_000079.4(CHRNA1):c.998G>A (p.Arg333Gln)
NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)
NM_000751.3(CHRND):c.1026G>A (p.Val342=) rs1574634359
NM_000751.3(CHRND):c.102A>C (p.Gln34His) rs780478522
NM_000751.3(CHRND):c.1033G>C (p.Glu345Gln) rs758772612
NM_000751.3(CHRND):c.1047+10T>C rs2106211747
NM_000751.3(CHRND):c.1047+15C>T
NM_000751.3(CHRND):c.1047+17G>A rs997482710
NM_000751.3(CHRND):c.1047+20C>T
NM_000751.3(CHRND):c.1047+3G>A
NM_000751.3(CHRND):c.1047+5G>T rs780881475
NM_000751.3(CHRND):c.1048-12A>G
NM_000751.3(CHRND):c.1056G>T (p.Leu352=)
NM_000751.3(CHRND):c.1068G>A (p.Pro356=)
NM_000751.3(CHRND):c.1071G>C (p.Glu357Asp) rs1235160365
NM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)
NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)
NM_000751.3(CHRND):c.1083G>C (p.Met361Ile)
NM_000751.3(CHRND):c.1085C>G (p.Ser362Cys) rs1054895490
NM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)
NM_000751.3(CHRND):c.108G>A (p.Lys36=) rs2106206094
NM_000751.3(CHRND):c.1098G>C (p.Glu366Asp)
NM_000751.3(CHRND):c.1106C>G (p.Pro369Arg) rs1691800096
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
NM_000751.3(CHRND):c.1122G>T (p.Leu374=) rs1438844656
NM_000751.3(CHRND):c.1123G>T (p.Val375Leu)
NM_000751.3(CHRND):c.1151T>A (p.Ile384Asn)
NM_000751.3(CHRND):c.1155C>T (p.Ser385=) rs2106214377
NM_000751.3(CHRND):c.1161C>G (p.Ala387=) rs376017740
NM_000751.3(CHRND):c.1161C>T (p.Ala387=) rs376017740
NM_000751.3(CHRND):c.1167G>T (p.Glu389Asp)
NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)
NM_000751.3(CHRND):c.1187G>A (p.Arg396His) rs770837281
NM_000751.3(CHRND):c.118A>G (p.Lys40Glu) rs1475752234
NM_000751.3(CHRND):c.1197C>A (p.Leu399=) rs2106214422
NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)
NM_000751.3(CHRND):c.1203C>T (p.Phe401=) rs138405676
NM_000751.3(CHRND):c.1218G>T (p.Glu406Asp)
NM_000751.3(CHRND):c.1219C>T (p.Arg407Trp) rs766721840
NM_000751.3(CHRND):c.1223A>G (p.His408Arg)
NM_000751.3(CHRND):c.1233C>T (p.Ala411=) rs1553575402
NM_000751.3(CHRND):c.1237C>A (p.Arg413Ser) rs1242056715
NM_000751.3(CHRND):c.1238G>A (p.Arg413His)
NM_000751.3(CHRND):c.1238G>T (p.Arg413Leu)
NM_000751.3(CHRND):c.1252+16T>A
NM_000751.3(CHRND):c.1252+9C>A
NM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)
NM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)
NM_000751.3(CHRND):c.1253-11C>A
NM_000751.3(CHRND):c.1253-11C>G
NM_000751.3(CHRND):c.1253-13C>A
NM_000751.3(CHRND):c.1290A>T (p.Glu430Asp) rs1691812180
NM_000751.3(CHRND):c.1298A>G (p.Asn433Ser)
NM_000751.3(CHRND):c.1305G>A (p.Leu435=)
NM_000751.3(CHRND):c.1325C>T (p.Ala442Val)
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs) rs1553575435
NM_000751.3(CHRND):c.1367del (p.Asn456fs) rs775837014
NM_000751.3(CHRND):c.1371+17T>C
NM_000751.3(CHRND):c.1371+1G>T
NM_000751.3(CHRND):c.1375A>G (p.Lys459Glu)
NM_000751.3(CHRND):c.1391G>A (p.Arg464Gln) rs1574638484
NM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)
NM_000751.3(CHRND):c.13G>T (p.Val5Leu)
NM_000751.3(CHRND):c.1403C>G (p.Thr468Arg)
NM_000751.3(CHRND):c.1403C>T (p.Thr468Ile) rs374459301
NM_000751.3(CHRND):c.1407G>A (p.Val469=)
NM_000751.3(CHRND):c.140A>T (p.His47Leu)
NM_000751.3(CHRND):c.1411C>G (p.Arg471Gly) rs533115724
NM_000751.3(CHRND):c.1413C>G (p.Arg471=) rs766187603
NM_000751.3(CHRND):c.1422G>A (p.Leu474=)
NM_000751.3(CHRND):c.1428G>A (p.Val476=)
NM_000751.3(CHRND):c.1433C>T (p.Thr478Met)
NM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)
NM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)
NM_000751.3(CHRND):c.1442TGG[2] (p.Val483del)
NM_000751.3(CHRND):c.1444G>C (p.Val482Leu)
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)
NM_000751.3(CHRND):c.1482C>T (p.Tyr494=)
NM_000751.3(CHRND):c.1484A>G (p.Asn495Ser)
NM_000751.3(CHRND):c.148G>A (p.Glu50Lys)
NM_000751.3(CHRND):c.1494A>G (p.Pro498=)
NM_000751.3(CHRND):c.1515C>A (p.Asp505Glu) rs2106215790
NM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)
NM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)
NM_000751.3(CHRND):c.1530C>G (p.Asn510Lys) rs114463490
NM_000751.3(CHRND):c.1535A>G (p.Gln512Arg) rs2106215821
NM_000751.3(CHRND):c.1553A>G (p.Ter518Trp) rs1203669806
NM_000751.3(CHRND):c.1554G>T (p.Ter518Tyr) rs780761579
NM_000751.3(CHRND):c.158A>G (p.Asp53Gly)
NM_000751.3(CHRND):c.167T>C (p.Leu56Pro) rs1553573832
NM_000751.3(CHRND):c.170C>T (p.Ala57Val)
NM_000751.3(CHRND):c.174C>A (p.Leu58=)
NM_000751.3(CHRND):c.178C>G (p.Leu60Val) rs200743096
NM_000751.3(CHRND):c.180C>T (p.Leu60=)
NM_000751.3(CHRND):c.187C>A (p.Leu63Ile) rs2106206284
NM_000751.3(CHRND):c.198+12_198+13insA
NM_000751.3(CHRND):c.198+13C>G
NM_000751.3(CHRND):c.199-13C>T
NM_000751.3(CHRND):c.199-8A>G rs2106207309
NM_000751.3(CHRND):c.211del (p.Glu71fs)
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro) rs1691518594
NM_000751.3(CHRND):c.231G>A (p.Val77=)
NM_000751.3(CHRND):c.236T>C (p.Ile79Thr)
NM_000751.3(CHRND):c.243+9G>A rs1015689711
NM_000751.3(CHRND):c.244-18A>T
NM_000751.3(CHRND):c.244-3C>T
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter) rs2106208285
NM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)
NM_000751.3(CHRND):c.259C>T (p.Arg87Trp)
NM_000751.3(CHRND):c.262C>G (p.Leu88Val) rs180971628
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) rs545298641
NM_000751.3(CHRND):c.27G>C (p.Gly9=) rs554645326
NM_000751.3(CHRND):c.27G>T (p.Gly9=) rs554645326
NM_000751.3(CHRND):c.281A>G (p.Glu94Gly) rs1691557368
NM_000751.3(CHRND):c.292A>G (p.Ile98Val)
NM_000751.3(CHRND):c.298G>C (p.Val100Leu) rs955184518
NM_000751.3(CHRND):c.29T>C (p.Leu10Pro)
NM_000751.3(CHRND):c.2T>C (p.Met1Thr) rs750174953
NM_000751.3(CHRND):c.304C>A (p.Arg102Ser)
NM_000751.3(CHRND):c.304C>T (p.Arg102Cys) rs775578238
NM_000751.3(CHRND):c.312C>G (p.Pro104=)
NM_000751.3(CHRND):c.314C>G (p.Pro105Arg) rs769160054
NM_000751.3(CHRND):c.316dup (p.Asp106fs)
NM_000751.3(CHRND):c.31C>T (p.Leu11=) rs1235166420
NM_000751.3(CHRND):c.336G>A (p.Glu112=)
NM_000751.3(CHRND):c.340G>C (p.Val114Leu)
NM_000751.3(CHRND):c.34G>A (p.Ala12Thr) rs1691456942
NM_000751.3(CHRND):c.361G>A (p.Gly121Ser) rs752699014
NM_000751.3(CHRND):c.361G>C (p.Gly121Arg) rs752699014
NM_000751.3(CHRND):c.364T>C (p.Ser122Pro)
NM_000751.3(CHRND):c.369C>G (p.Phe123Leu)
NM_000751.3(CHRND):c.36del (p.Ala13fs)
NM_000751.3(CHRND):c.378C>T (p.Ser126=)
NM_000751.3(CHRND):c.385T>C (p.Cys129Arg)
NM_000751.3(CHRND):c.389A>G (p.Asn130Ser) rs1553574327
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile) rs1553574327
NM_000751.3(CHRND):c.391G>A (p.Val131Met) rs755141289
NM_000751.3(CHRND):c.391G>C (p.Val131Leu)
NM_000751.3(CHRND):c.409G>A (p.Gly137Ser)
NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)
NM_000751.3(CHRND):c.42G>C (p.Leu14=) rs746207666
NM_000751.3(CHRND):c.440T>C (p.Phe147Ser)
NM_000751.3(CHRND):c.443G>A (p.Arg148His)
NM_000751.3(CHRND):c.449C>G (p.Ser150Cys) rs1441233980
NM_000751.3(CHRND):c.461C>T (p.Ser154Phe) rs2106208649
NM_000751.3(CHRND):c.468C>G (p.Thr156=)
NM_000751.3(CHRND):c.481G>A (p.Asp161Asn)
NM_000751.3(CHRND):c.492C>G (p.Asn164Lys)
NM_000751.3(CHRND):c.494G>T (p.Cys165Phe) rs1258523257
NM_000751.3(CHRND):c.509+11T>C
NM_000751.3(CHRND):c.509+18G>A
NM_000751.3(CHRND):c.510-16C>G
NM_000751.3(CHRND):c.510-17C>A
NM_000751.3(CHRND):c.513C>T (p.Ser171=) rs2106208903
NM_000751.3(CHRND):c.52+15C>A
NM_000751.3(CHRND):c.52+18C>A
NM_000751.3(CHRND):c.52+18C>G
NM_000751.3(CHRND):c.52+6G>A rs1301307735
NM_000751.3(CHRND):c.520T>C (p.Tyr174His)
NM_000751.3(CHRND):c.521_524dup (p.Ala176fs) rs1574630951
NM_000751.3(CHRND):c.528C>T (p.Ala176=)
NM_000751.3(CHRND):c.529A>G (p.Lys177Glu) rs1691581371
NM_000751.3(CHRND):c.53-15G>A
NM_000751.3(CHRND):c.536T>C (p.Ile179Thr)
NM_000751.3(CHRND):c.543G>T (p.Leu181=)
NM_000751.3(CHRND):c.549G>A (p.Leu183=)
NM_000751.3(CHRND):c.570C>G (p.Asn190Lys) rs768218659
NM_000751.3(CHRND):c.571C>G (p.Arg191Gly)
NM_000751.3(CHRND):c.572G>A (p.Arg191His)
NM_000751.3(CHRND):c.582C>G (p.Pro194=) rs773089899
NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn) rs1691584182
NM_000751.3(CHRND):c.619+10del rs2106209037
NM_000751.3(CHRND):c.619+15C>T
NM_000751.3(CHRND):c.619+16G>A
NM_000751.3(CHRND):c.619+16G>C
NM_000751.3(CHRND):c.619+16G>T rs753490642
NM_000751.3(CHRND):c.620-3C>G rs1691619642
NM_000751.3(CHRND):c.620-3C>T
NM_000751.3(CHRND):c.625G>A (p.Gly209Arg) rs766740341
NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)
NM_000751.3(CHRND):c.641T>C (p.Val214Ala) rs1691620619
NM_000751.3(CHRND):c.650C>T (p.Pro217Leu) rs149439815
NM_000751.3(CHRND):c.658G>A (p.Val220Ile)
NM_000751.3(CHRND):c.663C>T (p.Asn221=)
NM_000751.3(CHRND):c.664G>A (p.Val222Met)
NM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs)
NM_000751.3(CHRND):c.68A>T (p.Asn23Ile) rs1691474796
NM_000751.3(CHRND):c.691C>T (p.Pro231Ser)
NM_000751.3(CHRND):c.709A>T (p.Thr237Ser)
NM_000751.3(CHRND):c.710C>T (p.Thr237Ile)
NM_000751.3(CHRND):c.713_715del (p.Phe238del) rs2106210087
NM_000751.3(CHRND):c.718C>T (p.Leu240Phe)
NM_000751.3(CHRND):c.720C>A (p.Leu240=) rs935801687
NM_000751.3(CHRND):c.725T>C (p.Ile242Thr)
NM_000751.3(CHRND):c.726C>T (p.Ile242=) rs1335079963
NM_000751.3(CHRND):c.731G>A (p.Arg244His)
NM_000751.3(CHRND):c.736C>T (p.Pro246Ser)
NM_000751.3(CHRND):c.738C>G (p.Pro246=)
NM_000751.3(CHRND):c.772G>A (p.Val258Met)
NM_000751.3(CHRND):c.784_786del (p.Phe262del)
NM_000751.3(CHRND):c.79C>T (p.Arg27Trp)
NM_000751.3(CHRND):c.820+13G>A rs763880179
NM_000751.3(CHRND):c.820+13G>T
NM_000751.3(CHRND):c.820+17C>G
NM_000751.3(CHRND):c.820+17C>T
NM_000751.3(CHRND):c.820+5G>A
NM_000751.3(CHRND):c.820_820+1del rs879255564
NM_000751.3(CHRND):c.821-19C>T
NM_000751.3(CHRND):c.821-5C>A
NM_000751.3(CHRND):c.822T>G (p.Ser274Arg)
NM_000751.3(CHRND):c.839T>C (p.Val280Ala)
NM_000751.3(CHRND):c.859G>T (p.Ala287Ser) rs1691690683
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) rs121909502
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) rs1574633904
NM_000751.3(CHRND):c.888C>T (p.Ser296=) rs2106211370
NM_000751.3(CHRND):c.88del (p.Arg30fs) rs1266948051
NM_000751.3(CHRND):c.904A>C (p.Thr302Pro) rs561839978
NM_000751.3(CHRND):c.912G>A (p.Met304Ile)
NM_000751.3(CHRND):c.921C>T (p.Pro307=) rs1691694178
NM_000751.3(CHRND):c.929G>A (p.Gly310Asp)
NM_000751.3(CHRND):c.932+17C>A
NM_000751.3(CHRND):c.932+2T>A
NM_000751.3(CHRND):c.932+5G>T
NM_000751.3(CHRND):c.933-19G>A
NM_000751.3(CHRND):c.933-6C>G
NM_000751.3(CHRND):c.933-7C>T
NM_000751.3(CHRND):c.938T>C (p.Leu313Pro)
NM_000751.3(CHRND):c.954G>C (p.Val318=)
NM_000751.3(CHRND):c.956T>C (p.Leu319Pro) rs1553575093
NM_000751.3(CHRND):c.962C>A (p.Thr321Asn) rs776316455
NM_000751.3(CHRND):c.967G>T (p.Val323Phe)
NM_000751.3(CHRND):c.96G>T (p.Leu32=) rs1574627606
NM_000751.3(CHRND):c.982G>T (p.Val328Phe)
NM_000751.3(CHRND):c.983T>A (p.Val328Asp) rs2106211615
NM_000751.3(CHRND):c.987C>T (p.Ile329=)
NM_000751.3(CHRND):c.991C>T (p.Leu331Phe) rs1292476417
NM_000751.3(CHRND):c.993C>T (p.Leu331=)

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