ClinVar Miner

List of variants reported as uncertain significance for hereditary pulmonary alveolar proteinosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 569
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HGVS dbSNP gnomAD frequency
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721 0.00068
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile) rs146851019 0.00060
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787 0.00049
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070 0.00044
NM_004990.4(MARS1):c.986C>A (p.Pro329His) rs145260922 0.00035
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln) rs150428018 0.00034
NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) rs181719822 0.00032
NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly) rs149432418 0.00031
NM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser) rs147866013 0.00028
NM_172245.4(CSF2RA):c.692C>T (p.Thr231Met) rs149974131 0.00028
NM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn) rs143703263 0.00022
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp) rs151196994 0.00019
NM_172245.4(CSF2RA):c.251G>A (p.Arg84His) rs111646204 0.00019
NM_172245.4(CSF2RA):c.953A>T (p.Asp318Val) rs374398870 0.00019
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln) rs200011880 0.00016
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446 0.00016
NM_172245.4(CSF2RA):c.780+3C>T rs368467031 0.00016
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809 0.00014
NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) rs138753301 0.00013
NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) rs144555820 0.00013
NM_004990.4(MARS1):c.2415G>A (p.Leu805=) rs374963162 0.00012
NM_172245.4(CSF2RA):c.1186G>A (p.Val396Met) rs139686363 0.00010
NM_004990.4(MARS1):c.1049C>T (p.Ser350Leu) rs147637407 0.00009
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594 0.00009
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn) rs748377952 0.00009
NM_004990.4(MARS1):c.2672C>T (p.Pro891Leu) rs148245567 0.00009
NM_004990.4(MARS1):c.298C>G (p.Leu100Val) rs200701235 0.00009
NM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp) rs145093302 0.00009
NM_172245.4(CSF2RA):c.789G>C (p.Gln263His) rs759171777 0.00009
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys) rs772759631 0.00008
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) rs778753999 0.00008
NM_004990.4(MARS1):c.1000G>A (p.Asp334Asn) rs760487210 0.00007
NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) rs190144821 0.00007
NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala) rs774472033 0.00007
NM_004990.4(MARS1):c.1540-3C>T rs372013808 0.00006
NM_004990.4(MARS1):c.1700C>T (p.Ser567Leu) rs143592405 0.00006
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) rs139600659 0.00006
NM_004990.4(MARS1):c.2236G>T (p.Val746Leu) rs765690389 0.00006
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro) rs143003497 0.00006
NM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys) rs141694686 0.00006
NM_172245.4(CSF2RA):c.625C>G (p.Leu209Val) rs201554870 0.00006
NM_004990.4(MARS1):c.1091+2dup rs754216322 0.00005
NM_004990.4(MARS1):c.1097C>G (p.Thr366Ser) rs142248205 0.00005
NM_004990.4(MARS1):c.1567A>G (p.Ile523Val) rs759198038 0.00005
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser) rs776411681 0.00005
NM_004990.4(MARS1):c.2179C>T (p.Arg727Trp) rs369861995 0.00005
NM_004990.4(MARS1):c.2549C>T (p.Thr850Ile) rs760285704 0.00005
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530 0.00005
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392 0.00005
NM_004990.4(MARS1):c.740T>C (p.Leu247Ser) rs763613524 0.00005
NM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys) rs139819371 0.00005
NM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln) rs765357225 0.00005
NM_004990.4(MARS1):c.1126C>T (p.Arg376Ter) rs150674269 0.00004
NM_004990.4(MARS1):c.1448G>A (p.Arg483His) rs779123068 0.00004
NM_004990.4(MARS1):c.1459C>T (p.Arg487Trp) rs551633010 0.00004
NM_004990.4(MARS1):c.1651T>C (p.Phe551Leu) rs778475853 0.00004
NM_004990.4(MARS1):c.2446C>T (p.Arg816Cys) rs368028253 0.00004
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter) rs768234938 0.00004
NM_004990.4(MARS1):c.266C>T (p.Ala89Val) rs781061568 0.00004
NM_004990.4(MARS1):c.577C>G (p.Gln193Glu) rs372283342 0.00004
NM_004990.4(MARS1):c.650C>T (p.Thr217Ile) rs759101321 0.00004
NM_004990.4(MARS1):c.823G>A (p.Val275Ile) rs1017657436 0.00004
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys) rs745584505 0.00004
NM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys) rs779979042 0.00004
NM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser) rs774500472 0.00004
NM_172245.4(CSF2RA):c.689C>T (p.Thr230Met) rs371464087 0.00004
NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) rs200071635 0.00004
NM_004990.4(MARS1):c.1034G>A (p.Arg345His) rs755272942 0.00003
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys) rs767132960 0.00003
NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu) rs562565076 0.00003
NM_004990.4(MARS1):c.1378C>T (p.Arg460Ter) rs764820125 0.00003
NM_004990.4(MARS1):c.1454G>A (p.Trp485Ter) rs746422516 0.00003
NM_004990.4(MARS1):c.1568T>C (p.Ile523Thr) rs201555303 0.00003
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261 0.00003
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile) rs544343105 0.00003
NM_004990.4(MARS1):c.1829C>T (p.Thr610Met) rs749222145 0.00003
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220 0.00003
NM_004990.4(MARS1):c.1967+3A>G rs183042263 0.00003
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075 0.00003
NM_004990.4(MARS1):c.2077C>T (p.His693Tyr) rs559534109 0.00003
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) rs369313141 0.00003
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944 0.00003
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) rs138343927 0.00003
NM_004990.4(MARS1):c.2677G>A (p.Ala893Thr) rs528383629 0.00003
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) rs376785642 0.00003
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223 0.00003
NM_004990.4(MARS1):c.533C>T (p.Thr178Ile) rs1394369709 0.00003
NM_004990.4(MARS1):c.751C>T (p.Arg251Trp) rs765580781 0.00003
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr) rs141105798 0.00003
NM_004990.4(MARS1):c.895C>T (p.Arg299Cys) rs373211996 0.00003
NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) rs760207183 0.00003
NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) rs150603886 0.00003
NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) rs747486085 0.00003
NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) rs753067685 0.00003
NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu) rs1309888844 0.00003
NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) rs144461826 0.00003
NM_172245.4(CSF2RA):c.703G>A (p.Val235Ile) rs754889776 0.00003
NM_172245.4(CSF2RA):c.75G>A (p.Ser25=) rs778872405 0.00003
NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp) rs778181682 0.00003
NM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn) rs373932512 0.00003
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743 0.00002
NM_004990.4(MARS1):c.1201G>A (p.Val401Met) rs774447812 0.00002
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala) rs780028144 0.00002
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) rs754546247 0.00002
NM_004990.4(MARS1):c.1907C>T (p.Thr636Met) rs145038492 0.00002
NM_004990.4(MARS1):c.201-3C>T rs374880860 0.00002
NM_004990.4(MARS1):c.2131A>G (p.Ile711Val) rs746357597 0.00002
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser) rs770756933 0.00002
NM_004990.4(MARS1):c.2204+9G>A rs528310242 0.00002
NM_004990.4(MARS1):c.2285C>T (p.Thr762Met) rs776051748 0.00002
NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr) rs758314169 0.00002
NM_004990.4(MARS1):c.2447G>A (p.Arg816His) rs150482634 0.00002
NM_004990.4(MARS1):c.2471C>T (p.Thr824Met) rs759262797 0.00002
NM_004990.4(MARS1):c.2527C>A (p.Gln843Lys) rs561321660 0.00002
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) rs773914259 0.00002
NM_004990.4(MARS1):c.2612C>T (p.Ala871Val) rs370631429 0.00002
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter) rs958058841 0.00002
NM_004990.4(MARS1):c.279+5G>A rs771256440 0.00002
NM_004990.4(MARS1):c.31G>A (p.Gly11Ser) rs750309467 0.00002
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr) rs147034935 0.00002
NM_004990.4(MARS1):c.71G>C (p.Gly24Ala) rs771461328 0.00002
NM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys) rs200259335 0.00002
NM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu) rs765802143 0.00002
NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) rs772019564 0.00002
NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) rs762604364 0.00002
NM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala) rs759542097 0.00002
NM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys) rs758063598 0.00002
NM_172245.4(CSF2RA):c.416C>T (p.Ala139Val) rs777638014 0.00002
NM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys) rs202122189 0.00002
NM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln) rs1418501378 0.00002
NM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu) rs762456506 0.00002
NM_172245.4(CSF2RA):c.797C>T (p.Thr266Met) rs760548109 0.00002
NM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr) rs2092297530 0.00002
NC_000012.11:g.57892346A>G rs766466297 0.00001
NM_004990.4(MARS1):c.1013T>C (p.Ile338Thr) rs1017492859 0.00001
NM_004990.4(MARS1):c.1016T>C (p.Ile339Thr) rs750435466 0.00001
NM_004990.4(MARS1):c.1024G>A (p.Asp342Asn) rs370644893 0.00001
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser) rs746654999 0.00001
NM_004990.4(MARS1):c.1091+4A>G rs987991720 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_004990.4(MARS1):c.1145A>C (p.Asp382Ala) rs2540290837 0.00001
NM_004990.4(MARS1):c.115G>C (p.Val39Leu) rs564742568 0.00001
NM_004990.4(MARS1):c.1162C>T (p.Arg388Ter) rs754698410 0.00001
NM_004990.4(MARS1):c.1195C>T (p.Arg399Cys) rs777616090 0.00001
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) rs1280661109 0.00001
NM_004990.4(MARS1):c.1297C>T (p.Pro433Ser) rs1450179852 0.00001
NM_004990.4(MARS1):c.1309G>A (p.Val437Ile) rs1484877370 0.00001
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala) rs1359914043 0.00001
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723 0.00001
NM_004990.4(MARS1):c.1379G>A (p.Arg460Gln) rs750231101 0.00001
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568 0.00001
NM_004990.4(MARS1):c.1387G>T (p.Glu463Ter) rs1313001176 0.00001
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys) rs781462684 0.00001
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser) rs778085997 0.00001
NM_004990.4(MARS1):c.1436A>G (p.Gln479Arg) rs749677919 0.00001
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile) rs1173899198 0.00001
NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln) rs901699325 0.00001
NM_004990.4(MARS1):c.1477C>T (p.Arg493Cys) rs747598332 0.00001
NM_004990.4(MARS1):c.1490G>A (p.Arg497Gln) rs773985407 0.00001
NM_004990.4(MARS1):c.1534del (p.Asp512fs) rs1771114461 0.00001
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly) rs567401794 0.00001
NM_004990.4(MARS1):c.1594T>A (p.Tyr532Asn) rs375218777 0.00001
NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys) rs200241086 0.00001
NM_004990.4(MARS1):c.1772A>T (p.Asp591Val) rs775880924 0.00001
NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys) rs764601965 0.00001
NM_004990.4(MARS1):c.1793G>A (p.Arg598His) rs749954063 0.00001
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718 0.00001
NM_004990.4(MARS1):c.188G>A (p.Ser63Asn) rs932854507 0.00001
NM_004990.4(MARS1):c.1910dup (p.Asp637fs) rs1198788537 0.00001
NM_004990.4(MARS1):c.1925A>G (p.Asn642Ser) rs986239126 0.00001
NM_004990.4(MARS1):c.1931C>G (p.Ser644Cys) rs1276192658 0.00001
NM_004990.4(MARS1):c.1968-8C>T rs1209991469 0.00001
NM_004990.4(MARS1):c.1976T>C (p.Met659Thr) rs1156891377 0.00001
NM_004990.4(MARS1):c.201-14C>G rs890326294 0.00001
NM_004990.4(MARS1):c.2039G>A (p.Arg680His) rs750422474 0.00001
NM_004990.4(MARS1):c.2071C>T (p.His691Tyr) rs748378192 0.00001
NM_004990.4(MARS1):c.2086C>T (p.Leu696Phe) rs1877703051 0.00001
NM_004990.4(MARS1):c.2098C>T (p.Arg700Trp) rs771306648 0.00001
NM_004990.4(MARS1):c.2104C>T (p.Arg702Trp) rs587777228 0.00001
NM_004990.4(MARS1):c.2117G>A (p.Arg706His) rs757783733 0.00001
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr) rs1051420158 0.00001
NM_004990.4(MARS1):c.2146A>G (p.Asn716Asp) rs1386767973 0.00001
NM_004990.4(MARS1):c.2149C>A (p.Gln717Lys) rs1422372608 0.00001
NM_004990.4(MARS1):c.2153A>G (p.Tyr718Cys) rs769280984 0.00001
NM_004990.4(MARS1):c.2155A>G (p.Ile719Val) rs773073357 0.00001
NM_004990.4(MARS1):c.2157T>G (p.Ile719Met) rs1877717622 0.00001
NM_004990.4(MARS1):c.2161G>A (p.Val721Met) rs1398823090 0.00001
NM_004990.4(MARS1):c.2237T>G (p.Val746Gly) rs758918563 0.00001
NM_004990.4(MARS1):c.2246C>T (p.Ala749Val) rs1877732691 0.00001
NM_004990.4(MARS1):c.2264T>C (p.Met755Thr) rs745605073 0.00001
NM_004990.4(MARS1):c.2286G>A (p.Thr762=) rs765384958 0.00001
NM_004990.4(MARS1):c.2290A>G (p.Ser764Gly) rs773571063 0.00001
NM_004990.4(MARS1):c.2318T>C (p.Leu773Pro) rs755480968 0.00001
NM_004990.4(MARS1):c.2336G>C (p.Ser779Thr) rs756986496 0.00001
NM_004990.4(MARS1):c.2347A>G (p.Thr783Ala) rs946923506 0.00001
NM_004990.4(MARS1):c.2381A>G (p.Gln794Arg) rs1489534290 0.00001
NM_004990.4(MARS1):c.2391+1G>C rs1056496791 0.00001
NM_004990.4(MARS1):c.2391+3A>G rs995030286 0.00001
NM_004990.4(MARS1):c.244A>C (p.Asn82His) rs758051760 0.00001
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964 0.00001
NM_004990.4(MARS1):c.2489T>C (p.Val830Ala) rs1261994458 0.00001
NM_004990.4(MARS1):c.2504C>A (p.Thr835Lys) rs765394045 0.00001
NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu) rs368995987 0.00001
NM_004990.4(MARS1):c.2590G>A (p.Ala864Thr) rs1359283860 0.00001
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219 0.00001
NM_004990.4(MARS1):c.2650G>A (p.Ala884Thr) rs778165066 0.00001
NM_004990.4(MARS1):c.2662G>A (p.Gly888Arg) rs1877847135 0.00001
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081 0.00001
NM_004990.4(MARS1):c.2686G>C (p.Gly896Arg) rs1241922651 0.00001
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr) rs28382854 0.00001
NM_004990.4(MARS1):c.295G>T (p.Ala99Ser) rs916042745 0.00001
NM_004990.4(MARS1):c.303C>G (p.Tyr101Ter) rs912847491 0.00001
NM_004990.4(MARS1):c.311T>A (p.Val104Glu) rs1275132808 0.00001
NM_004990.4(MARS1):c.323A>G (p.Lys108Arg) rs1037400402 0.00001
NM_004990.4(MARS1):c.371T>C (p.Ile124Thr) rs113917592 0.00001
NM_004990.4(MARS1):c.414+1G>T rs747354935 0.00001
NM_004990.4(MARS1):c.427C>G (p.Leu143Val) rs373685852 0.00001
NM_004990.4(MARS1):c.433G>A (p.Asp145Asn) rs1875799718 0.00001
NM_004990.4(MARS1):c.437T>C (p.Ile146Thr) rs2540259359 0.00001
NM_004990.4(MARS1):c.460C>A (p.Pro154Thr) rs1875801450 0.00001
NM_004990.4(MARS1):c.478G>A (p.Ala160Thr) rs764006401 0.00001
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) rs753083306 0.00001
NM_004990.4(MARS1):c.595C>T (p.Arg199Trp) rs776361792 0.00001
NM_004990.4(MARS1):c.643G>A (p.Ala215Thr) rs187172640 0.00001
NM_004990.4(MARS1):c.653A>G (p.Asn218Ser) rs1875839426 0.00001
NM_004990.4(MARS1):c.664G>A (p.Glu222Lys) rs915134782 0.00001
NM_004990.4(MARS1):c.703A>G (p.Met235Val) rs149140599 0.00001
NM_004990.4(MARS1):c.70G>A (p.Gly24Ser) rs1227531274 0.00001
NM_004990.4(MARS1):c.743C>T (p.Pro248Leu) rs1349993457 0.00001
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078 0.00001
NM_004990.4(MARS1):c.764A>G (p.Asn255Ser) rs1290294795 0.00001
NM_004990.4(MARS1):c.770T>C (p.Val257Ala) rs200308742 0.00001
NM_004990.4(MARS1):c.782C>T (p.Ala261Val) rs769280509 0.00001
NM_004990.4(MARS1):c.789A>C (p.Glu263Asp) rs754922944 0.00001
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) rs776026574 0.00001
NM_004990.4(MARS1):c.86T>C (p.Leu29Pro) rs369180672 0.00001
NM_004990.4(MARS1):c.896G>A (p.Arg299His) rs764072423 0.00001
NM_004990.4(MARS1):c.902G>A (p.Arg301His) rs2540286647 0.00001
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer) rs773474721 0.00001
NM_004990.4(MARS1):c.996C>G (p.Ile332Met) rs771582433 0.00001
NM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile) rs776273359 0.00001
NM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser) rs1186460962 0.00001
NM_172245.4(CSF2RA):c.1044-3C>G rs2083459431 0.00001
NM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu) rs1261417012 0.00001
NM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg) rs1310278957 0.00001
NM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu) rs770606889 0.00001
NM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu) rs202127578 0.00001
NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His) rs749182596 0.00001
NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) rs746211899 0.00001
NM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn) rs1402617835 0.00001
NM_172245.4(CSF2RA):c.266A>G (p.His89Arg) rs746838356 0.00001
NM_172245.4(CSF2RA):c.343+5G>A rs1442528862 0.00001
NM_172245.4(CSF2RA):c.366G>C (p.Gln122His) rs769068799 0.00001
NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val) rs1229396937 0.00001
NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) rs201377602 0.00001
NM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn) rs769648353 0.00001
NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu) rs762982746 0.00001
NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met) rs758879393 0.00001
NM_172245.4(CSF2RA):c.599A>T (p.Glu200Val) rs1161675124 0.00001
NM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu) rs762080666 0.00001
NM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu) rs750757416 0.00001
NM_172245.4(CSF2RA):c.646+3G>A rs373500219 0.00001
NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln) rs147844397 0.00001
NM_172245.4(CSF2RA):c.680G>A (p.Arg227His) rs761247845 0.00001
NM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile) rs779711299 0.00001
NM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn) rs761350119 0.00001
NM_172245.4(CSF2RA):c.780+4G>A rs1467836447 0.00001
NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala) rs775114336 0.00001
NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr) rs746669534 0.00001
NM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg) rs1250271206 0.00001
NM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg) rs200955947 0.00001
NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val) rs1393107041 0.00001
NM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys) rs760925182 0.00001
NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) rs771210487 0.00001
NM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe) rs769866070 0.00001
NC_000012.11:g.(?_56711393)_(58190366_?)dup
NC_000012.11:g.(?_57881874)_(57884447_?)dup
NC_000012.11:g.(?_57883659)_(57884447_?)del
NC_000012.11:g.(?_57891920)_(57898102_?)del
NC_000012.11:g.(?_57891920)_(57898102_?)dup
NC_000012.11:g.(?_57894084)_(57894325_?)del
NC_000012.11:g.(?_57897988)_(57898102_?)del
NC_000012.11:g.(?_57906514)_(57976962_?)dup
NM_004990.4(MARS1):c.1012A>C (p.Ile338Leu) rs376268814
NM_004990.4(MARS1):c.1019A>G (p.His340Arg) rs2540286995
NM_004990.4(MARS1):c.1027A>G (p.Ile343Val) rs2540287006
NM_004990.4(MARS1):c.1027_1028del (p.Ile343fs) rs2540287011
NM_004990.4(MARS1):c.1043A>T (p.Asn348Ile) rs781533160
NM_004990.4(MARS1):c.1052T>C (p.Phe351Ser) rs2140017178
NM_004990.4(MARS1):c.109+7GTGCTG[3] rs763091763
NM_004990.4(MARS1):c.1090A>G (p.Lys364Glu)
NM_004990.4(MARS1):c.1091+3A>G rs2140017230
NM_004990.4(MARS1):c.1092-3C>T rs1876860333
NM_004990.4(MARS1):c.109G>A (p.Asp37Asn) rs2540248847
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr) rs774396381
NM_004990.4(MARS1):c.113G>T (p.Cys38Phe)
NM_004990.4(MARS1):c.1149del (p.Val384fs)
NM_004990.4(MARS1):c.1151T>C (p.Val384Ala) rs2540290855
NM_004990.4(MARS1):c.1159C>G (p.Leu387Val)
NM_004990.4(MARS1):c.115G>A (p.Val39Met) rs564742568
NM_004990.4(MARS1):c.1165T>C (p.Cys389Arg) rs2540290888
NM_004990.4(MARS1):c.1171C>G (p.His391Asp) rs1298599869
NM_004990.4(MARS1):c.119del (p.Val40fs) rs2540254201
NM_004990.4(MARS1):c.1210G>A (p.Val404Met) rs370559405
NM_004990.4(MARS1):c.1229A>G (p.Tyr410Cys) rs202065367
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val) rs1594821386
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg) rs751129809
NM_004990.4(MARS1):c.1270C>G (p.Leu424Val) rs2140019644
NM_004990.4(MARS1):c.1271T>C (p.Leu424Pro) rs2540291184
NM_004990.4(MARS1):c.1273A>G (p.Ile425Val) rs2140019649
NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys) rs1876872025
NM_004990.4(MARS1):c.1293+5G>A rs1876872609
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg) rs1594824607
NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg) rs747060601
NM_004990.4(MARS1):c.133C>T (p.Arg45Trp)
NM_004990.4(MARS1):c.1369-6_1369-2del rs2540312316
NM_004990.4(MARS1):c.136C>T (p.Pro46Ser)
NM_004990.4(MARS1):c.137C>G (p.Pro46Arg) rs767326124
NM_004990.4(MARS1):c.1392G>T (p.Trp464Cys) rs2540312395
NM_004990.4(MARS1):c.13G>A (p.Val5Met) rs587777227
NM_004990.4(MARS1):c.1432G>A (p.Ala478Thr)
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro) rs1333359524
NM_004990.4(MARS1):c.1480T>C (p.Cys494Arg) rs2540312605
NM_004990.4(MARS1):c.1489C>T (p.Arg497Ter) rs368761444
NM_004990.4(MARS1):c.148G>A (p.Val50Ile) rs2540254403
NM_004990.4(MARS1):c.1500del (p.Lys500fs) rs754505518
NM_004990.4(MARS1):c.1513G>A (p.Val505Ile) rs1032041433
NM_004990.4(MARS1):c.1514dup (p.Pro506fs) rs1877536163
NM_004990.4(MARS1):c.1518del (p.Pro506_Leu507insTer) rs2140033925
NM_004990.4(MARS1):c.1531_1539+14del rs1877537061
NM_004990.4(MARS1):c.1539+3A>G
NM_004990.4(MARS1):c.1539G>T (p.Lys513Asn) rs2540312764
NM_004990.4(MARS1):c.1545C>G (p.Phe515Leu)
NM_004990.4(MARS1):c.155A>G (p.Gln52Arg)
NM_004990.4(MARS1):c.1571G>A (p.Gly524Asp)
NM_004990.4(MARS1):c.1598C>G (p.Thr533Arg) rs1877548133
NM_004990.4(MARS1):c.1635+4A>G rs1877550185
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly) rs1875708945
NM_004990.4(MARS1):c.165C>G (p.Ser55Arg) rs540781909
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del) rs1555168270
NM_004990.4(MARS1):c.1705C>G (p.Leu569Val) rs1877561893
NM_004990.4(MARS1):c.1709_1710delinsTT (p.Gly570Val) rs2540313691
NM_004990.4(MARS1):c.1721A>C (p.Asn574Thr) rs2540313705
NM_004990.4(MARS1):c.1727C>G (p.Thr576Ser) rs1357906437
NM_004990.4(MARS1):c.1736G>A (p.Ser579Asn)
NM_004990.4(MARS1):c.1738C>T (p.His580Tyr)
NM_004990.4(MARS1):c.1754-1G>A rs1594833474
NM_004990.4(MARS1):c.1754-1G>C rs1594833474
NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala) rs2540314763
NM_004990.4(MARS1):c.1795G>A (p.Gly599Ser) rs765972233
NM_004990.4(MARS1):c.1802G>C (p.Gly601Ala) rs2140034963
NM_004990.4(MARS1):c.1809T>A (p.Phe603Leu) rs2140034972
NM_004990.4(MARS1):c.180C>A (p.Phe60Leu)
NM_004990.4(MARS1):c.1818G>A (p.Met606Ile)
NM_004990.4(MARS1):c.1853G>A (p.Arg618His) rs764548386
NM_004990.4(MARS1):c.1853G>T (p.Arg618Leu) rs764548386
NM_004990.4(MARS1):c.1859_1862del (p.Tyr620fs) rs1877591168
NM_004990.4(MARS1):c.1859_1862dup (p.Leu622fs) rs1877591168
NM_004990.4(MARS1):c.1870A>G (p.Ile624Val) rs2540315074
NM_004990.4(MARS1):c.1874G>A (p.Arg625Gln) rs759133961
NM_004990.4(MARS1):c.1874G>T (p.Arg625Leu) rs759133961
NM_004990.4(MARS1):c.1891A>C (p.Ser631Arg)
NM_004990.4(MARS1):c.1892G>T (p.Ser631Ile) rs745706047
NM_004990.4(MARS1):c.1901C>T (p.Ser634Phe) rs769611828
NM_004990.4(MARS1):c.1906A>G (p.Thr636Ala) rs2540315198
NM_004990.4(MARS1):c.1932_1933insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAATAATTCT (p.Glu645delinsPhePhePhePhePhePheXaaXaaXaaXaaTer) rs2540315242
NM_004990.4(MARS1):c.1940T>C (p.Leu647Pro) rs2540315288
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly) rs1594835469
NM_004990.4(MARS1):c.1979T>G (p.Phe660Cys) rs2140036938
NM_004990.4(MARS1):c.200+4A>G rs774241581
NM_004990.4(MARS1):c.200+4A>T
NM_004990.4(MARS1):c.200G>A (p.Arg67Gln) rs1285223476
NM_004990.4(MARS1):c.2017G>A (p.Val673Met) rs145672326
NM_004990.4(MARS1):c.2017G>T (p.Val673Leu) rs145672326
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.4(MARS1):c.2038C>T (p.Arg680Cys)
NM_004990.4(MARS1):c.20_22del (p.Asp7del) rs1064796198
NM_004990.4(MARS1):c.2100-1G>A rs2540318798
NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly) rs2540318833
NM_004990.4(MARS1):c.2114dup (p.Leu705fs) rs777324495
NM_004990.4(MARS1):c.212del (p.Leu71fs) rs751080704
NM_004990.4(MARS1):c.212dup (p.Leu71fs)
NM_004990.4(MARS1):c.2134T>C (p.Ser712Pro) rs2540318916
NM_004990.4(MARS1):c.2150A>G (p.Gln717Arg) rs2540318948
NM_004990.4(MARS1):c.2204+3A>C rs752787448
NM_004990.4(MARS1):c.2204+3A>G rs752787448
NM_004990.4(MARS1):c.2204+4_2204+7del rs1327486572
NM_004990.4(MARS1):c.2204+6T>C rs2540319140
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp) rs139536122
NM_004990.4(MARS1):c.2224A>G (p.Thr742Ala) rs2140037579
NM_004990.4(MARS1):c.2227G>A (p.Gly743Ser) rs2540319506
NM_004990.4(MARS1):c.2241T>G (p.Asn747Lys) rs373102265
NM_004990.4(MARS1):c.2244A>G (p.Ile748Met) rs1236763103
NM_004990.4(MARS1):c.2245G>C (p.Ala749Pro)
NM_004990.4(MARS1):c.2273C>T (p.Pro758Leu)
NM_004990.4(MARS1):c.2277_2278del (p.Met760fs)
NM_004990.4(MARS1):c.227A>C (p.Glu76Ala) rs2540255899
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile) rs1594836361
NM_004990.4(MARS1):c.2291G>C (p.Ser764Thr) rs1565652335
NM_004990.4(MARS1):c.2302C>G (p.Gln768Glu) rs2540319759
NM_004990.4(MARS1):c.2314C>T (p.Gln772Ter) rs1248367484
NM_004990.4(MARS1):c.2323C>G (p.Pro775Ala) rs113773319
NM_004990.4(MARS1):c.2333G>A (p.Cys778Tyr) rs2540319835
NM_004990.4(MARS1):c.2356C>T (p.Leu786=) rs371088092
NM_004990.4(MARS1):c.2366T>A (p.Leu789Ter)
NM_004990.4(MARS1):c.2378del (p.His793fs)
NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys) rs1450260973
NM_004990.4(MARS1):c.2398C>T (p.Pro800Ser)
NM_004990.4(MARS1):c.2422G>T (p.Asp808Tyr) rs920533510
NM_004990.4(MARS1):c.2438T>A (p.Leu813Ter) rs2540321669
NM_004990.4(MARS1):c.2446C>G (p.Arg816Gly) rs368028253
NM_004990.4(MARS1):c.2458G>A (p.Gly820Ser) rs2540321753
NM_004990.4(MARS1):c.2462A>G (p.Gln821Arg) rs2540321763
NM_004990.4(MARS1):c.2504del (p.Thr835fs) rs778621936
NM_004990.4(MARS1):c.2507C>G (p.Thr836Arg) rs1159370358
NM_004990.4(MARS1):c.2514G>C (p.Lys838Asn) rs1390874158
NM_004990.4(MARS1):c.2539_2542del (p.Asp847fs)
NM_004990.4(MARS1):c.2540A>C (p.Asp847Ala) rs2540322952
NM_004990.4(MARS1):c.2553A>G (p.Lys851=)
NM_004990.4(MARS1):c.2556+1G>A rs1877828714
NM_004990.4(MARS1):c.2556+3A>G rs2540323018
NM_004990.4(MARS1):c.2556+3A>T rs2540323018
NM_004990.4(MARS1):c.2556+4T>A rs2540323023
NM_004990.4(MARS1):c.2556+5G>A rs1877828855
NM_004990.4(MARS1):c.2563A>G (p.Ile855Val)
NM_004990.4(MARS1):c.2597A>G (p.Lys866Arg)
NM_004990.4(MARS1):c.2607del (p.Ala870fs) rs2540323578
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly) rs1384096624
NM_004990.4(MARS1):c.2631G>C (p.Leu877Phe)
NM_004990.4(MARS1):c.265G>A (p.Ala89Thr) rs2540256081
NM_004990.4(MARS1):c.2673_2674insTTC (p.Pro891_Glu892insPhe) rs2540323866
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val) rs1027516483
NM_004990.4(MARS1):c.2685A>T (p.Lys895Asn) rs1181373475
NM_004990.4(MARS1):c.2685dup (p.Gly896fs) rs2540323920
NM_004990.4(MARS1):c.2691G>C (p.Lys897Asn) rs2540323947
NM_004990.4(MARS1):c.2701_*3del (p.Ter901del) rs1409128703
NM_004990.4(MARS1):c.280C>T (p.Pro94Ser) rs748101663
NM_004990.4(MARS1):c.294_295delinsCC (p.Ala99Pro)
NM_004990.4(MARS1):c.2T>A (p.Met1Lys) rs760194380
NM_004990.4(MARS1):c.31G>C (p.Gly11Arg) rs750309467
NM_004990.4(MARS1):c.328G>C (p.Gly110Arg) rs774655266
NM_004990.4(MARS1):c.337G>T (p.Val113Phe) rs2540257037
NM_004990.4(MARS1):c.343G>A (p.Gly115Ser) rs2139997870
NM_004990.4(MARS1):c.349G>A (p.Val117Met) rs761131110
NM_004990.4(MARS1):c.352C>G (p.Arg118Gly)
NM_004990.4(MARS1):c.356G>A (p.Arg119Lys)
NM_004990.4(MARS1):c.379A>G (p.Ser127Gly) rs1046282755
NM_004990.4(MARS1):c.389G>C (p.Arg130Pro) rs779129819
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser) rs1875583589
NM_004990.4(MARS1):c.397T>G (p.Cys133Gly) rs1875763591
NM_004990.4(MARS1):c.398G>A (p.Cys133Tyr) rs2139998020
NM_004990.4(MARS1):c.415-5C>G rs747351446
NM_004990.4(MARS1):c.421_422del (p.Glu141fs)
NM_004990.4(MARS1):c.425C>G (p.Ser142Cys) rs1875798702
NM_004990.4(MARS1):c.478G>T (p.Ala160Ser) rs764006401
NM_004990.4(MARS1):c.491-3C>T
NM_004990.4(MARS1):c.496C>G (p.Leu166Val)
NM_004990.4(MARS1):c.509A>G (p.His170Arg) rs2540260808
NM_004990.4(MARS1):c.511A>G (p.Ser171Gly) rs142331178
NM_004990.4(MARS1):c.520C>T (p.Gln174Ter) rs2540260857
NM_004990.4(MARS1):c.542C>T (p.Pro181Leu) rs1333749509
NM_004990.4(MARS1):c.564T>G (p.Thr188=) rs778106796
NM_004990.4(MARS1):c.580G>T (p.Gly194Cys) rs779651773
NM_004990.4(MARS1):c.58G>A (p.Gly20Arg)
NM_004990.4(MARS1):c.590C>T (p.Ala197Val) rs768441688
NM_004990.4(MARS1):c.596G>A (p.Arg199Gln) rs150202199
NM_004990.4(MARS1):c.5G>C (p.Arg2Thr) rs1166063337
NM_004990.4(MARS1):c.604C>G (p.Leu202Val)
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) rs1565637642
NM_004990.4(MARS1):c.636G>C (p.Glu212Asp) rs759487895
NM_004990.4(MARS1):c.646G>A (p.Val216Ile)
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp) rs1875839232
NM_004990.4(MARS1):c.659del (p.Pro220fs) rs777370844
NM_004990.4(MARS1):c.667G>A (p.Glu223Lys) rs1249955185
NM_004990.4(MARS1):c.673C>A (p.Leu225Met)
NM_004990.4(MARS1):c.673_696dup (p.Glu232_Ile233insLeuAlaThrLeuSerGluGluGlu) rs774608420
NM_004990.4(MARS1):c.67C>G (p.Arg23Gly) rs2139993470
NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del) rs2540262175
NM_004990.4(MARS1):c.68G>A (p.Arg23Gln) rs1247809884
NM_004990.4(MARS1):c.692A>T (p.Glu231Val) rs755863042
NM_004990.4(MARS1):c.709G>A (p.Val237Ile) rs1368716892
NM_004990.4(MARS1):c.712dup (p.Thr238fs) rs2540262258
NM_004990.4(MARS1):c.73A>G (p.Arg25Gly) rs1875589608
NM_004990.4(MARS1):c.766C>T (p.Pro256Ser)
NM_004990.4(MARS1):c.770+18_770+19del rs2540262574
NM_004990.4(MARS1):c.804C>G (p.Ile268Met) rs1421551773
NM_004990.4(MARS1):c.842T>G (p.Leu281Arg)
NM_004990.4(MARS1):c.846G>T (p.Gly282=)
NM_004990.4(MARS1):c.874G>A (p.Asp292Asn)
NM_004990.4(MARS1):c.874G>C (p.Asp292His) rs566515023
NM_004990.4(MARS1):c.875A>G (p.Asp292Gly) rs202096486
NM_004990.4(MARS1):c.886A>T (p.Arg296Trp) rs2540286116
NM_004990.4(MARS1):c.887+4G>T
NM_004990.4(MARS1):c.887+5A>G rs1565643835
NM_004990.4(MARS1):c.890A>C (p.Tyr297Ser) rs1876748489
NM_004990.4(MARS1):c.893C>G (p.Ser298Cys)
NM_004990.4(MARS1):c.89T>G (p.Ile30Ser) rs1412154411
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.907T>C (p.Trp303Arg) rs2540286663
NM_004990.4(MARS1):c.941A>G (p.Tyr314Cys)
NM_004990.4(MARS1):c.965C>T (p.Ala322Val) rs2540286845
NM_004990.4(MARS1):c.971A>G (p.Glu324Gly) rs1366293111
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) rs145260922
NM_004990.4(MARS1):c.989A>C (p.Gln330Pro) rs747834192
NM_004990.4(MARS1):c.995T>C (p.Ile332Thr) rs1476050845
NM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val) rs143480669
NM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe) rs143480669
NM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser) rs2148651005
NM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys) rs1186460962
NM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr) rs758219814
NM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn) rs2148311272
NM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro) rs2083462723
NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln) rs770606889
NM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln) rs200259335
NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) rs2084015817
NM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys) rs150603886
NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala) rs2523183707
NM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser) rs2090584002
NM_172245.4(CSF2RA):c.14T>C (p.Val5Ala) rs771435926
NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser) rs1457285917
NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys) rs2521404156
NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) rs2090190168
NM_172245.4(CSF2RA):c.220-3del
NM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu) rs201854740
NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) rs2091031726
NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) rs1603428019
NM_172245.4(CSF2RA):c.343+4A>G
NM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys) rs1226419238
NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) rs756668034
NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser) rs2521948661
NM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr) rs148928173
NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly) rs752275921
NM_172245.4(CSF2RA):c.402G>T (p.Met134Ile)
NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys) rs2091060104
NM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly) rs777638014
NM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln) rs151058706
NM_172245.4(CSF2RA):c.437G>A (p.Arg146His) rs759083963
NM_172245.4(CSF2RA):c.43C>T (p.His15Tyr) rs760312267
NM_172245.4(CSF2RA):c.447G>C (p.Gln149His) rs140998163
NM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr) rs1230316461
NM_172245.4(CSF2RA):c.477_479del (p.Arg161del) rs1325137344
NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) rs1603429177
NM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu) rs142203271
NM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala) rs142203271
NM_172245.4(CSF2RA):c.536A>G (p.His179Arg) rs2148416836
NM_172245.4(CSF2RA):c.566G>A (p.Arg189His) rs147180621
NM_172245.4(CSF2RA):c.580G>A (p.Val194Ile) rs2091295557
NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser) rs2522113970
NM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly) rs2148417904
NM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser) rs1437736490
NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) rs768648388
NM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys) rs772324282
NM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg) rs2091712486
NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg) rs371464087
NM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp) rs1603424196
NM_172245.4(CSF2RA):c.703G>T (p.Val235Leu) rs754889776
NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu) rs757087323
NM_172245.4(CSF2RA):c.77-3C>A rs2521665089
NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser) rs2522471599
NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp) rs2522472783
NM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln) rs764272709
NM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro) rs764272709
NM_172245.4(CSF2RA):c.901G>T (p.Val301Phe) rs767644484
NM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe) rs764261104
NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp) rs750933541
NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr) rs758894441
NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro) rs1364009285

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