ClinVar Miner

List of variants studied for surfactant metabolism dysfunction, pulmonary, 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_172245.4(CSF2RA):c.473+16_473+17del rs36125646 0.45949
NM_172245.4(CSF2RA):c.999G>A (p.Val333=) rs28460440 0.37040
NM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly) rs67006588 0.20721
NM_172245.4(CSF2RA):c.219+19T>G rs28716068 0.19359
NM_172245.4(CSF2RA):c.646+18G>T rs73618037 0.12528
NM_172245.4(CSF2RA):c.561G>A (p.Thr187=) rs73618036 0.02880
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu) rs151058706 0.01345
NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly) rs149059494 0.01010
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) rs138964358 0.00550
NM_172245.4(CSF2RA):c.300T>C (p.Thr100=) rs144521208 0.00349
NM_172245.4(CSF2RA):c.549G>C (p.Leu183=) rs139093878 0.00280
NM_172245.4(CSF2RA):c.647-7G>A rs189869234 0.00195
NM_172245.4(CSF2RA):c.997G>A (p.Val333Met) rs150290042 0.00195
NM_172245.4(CSF2RA):c.1125+17G>A rs190093862 0.00168
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=) rs140581875 0.00155
NM_172245.4(CSF2RA):c.540G>A (p.Leu180=) rs112441738 0.00123
NM_172245.4(CSF2RA):c.77-16T>C rs200837432 0.00105
NM_172245.4(CSF2RA):c.473+12C>T rs769676035 0.00074
NM_172245.4(CSF2RA):c.393G>A (p.Ala131=) rs143104828 0.00071
NM_172245.4(CSF2RA):c.921C>T (p.Ser307=) rs140664183 0.00066
NM_172245.4(CSF2RA):c.967G>A (p.Gly323Ser) rs149884748 0.00064
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_172245.4(CSF2RA):c.946+13C>T rs151211176 0.00057
NM_172245.4(CSF2RA):c.1122C>T (p.Asp374=) rs142692844 0.00049
NM_172245.4(CSF2RA):c.1056A>T (p.Ile352=) rs190606141 0.00043
NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) rs181719822 0.00033
NM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser) rs147866013 0.00031
NM_172245.4(CSF2RA):c.966C>T (p.Leu322=) rs145829351 0.00031
NM_172245.4(CSF2RA):c.987G>C (p.Val329=) rs141107206 0.00030
NM_172245.4(CSF2RA):c.972T>G (p.Ser324=) rs372852278 0.00029
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_172245.4(CSF2RA):c.953A>T (p.Asp318Val) rs374398870 0.00017
NM_172245.4(CSF2RA):c.251G>A (p.Arg84His) rs111646204 0.00016
NM_172245.4(CSF2RA):c.780+3C>T rs368467031 0.00016
NM_172245.4(CSF2RA):c.946+7G>A rs755828505 0.00016
NM_172245.4(CSF2RA):c.1125+8G>A rs185631469 0.00015
NM_172245.4(CSF2RA):c.646+9A>G rs370920708 0.00015
NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) rs138753301 0.00014
NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) rs144555820 0.00014
NM_172245.4(CSF2RA):c.77-12C>T rs374715344 0.00012
NM_172245.4(CSF2RA):c.1186G>A (p.Val396Met) rs139686363 0.00010
NM_172245.4(CSF2RA):c.681T>C (p.Arg227=) rs186487689 0.00010
NM_172245.4(CSF2RA):c.15G>T (p.Val5=) rs372682829 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_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn) rs769648353 0.00008
NM_172245.4(CSF2RA):c.585C>T (p.Asn195=) rs140515543 0.00008
NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) rs760207183 0.00007
NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) rs190144821 0.00007
NM_172245.4(CSF2RA):c.1026C>T (p.Leu342=) rs147163987 0.00006
NM_172245.4(CSF2RA):c.441C>T (p.Asp147=) rs775146027 0.00006
NM_172245.4(CSF2RA):c.447G>A (p.Gln149=) rs140998163 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_172245.4(CSF2RA):c.646+8T>C rs377311347 0.00006
NM_172245.4(CSF2RA):c.708G>A (p.Arg236=) rs749330435 0.00006
NM_172245.4(CSF2RA):c.798G>A (p.Thr266=) rs202145773 0.00006
NM_172245.4(CSF2RA):c.900C>T (p.Asp300=) rs369124146 0.00006
NM_172245.4(CSF2RA):c.960G>C (p.Gly320=) rs183684007 0.00006
NM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln) rs765357225 0.00005
NM_172245.4(CSF2RA):c.417G>A (p.Ala139=) rs368729326 0.00005
NM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys) rs139819371 0.00004
NM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys) rs779979042 0.00004
NM_172245.4(CSF2RA):c.219+7C>T rs188911889 0.00004
NM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser) rs774500472 0.00004
NM_172245.4(CSF2RA):c.429G>A (p.Thr143=) rs368476257 0.00004
NM_172245.4(CSF2RA):c.473+17T>A rs748398430 0.00004
NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) rs144461826 0.00004
NM_172245.4(CSF2RA):c.689C>T (p.Thr230Met) rs371464087 0.00004
NM_172245.4(CSF2RA):c.690G>A (p.Thr230=) rs764895195 0.00004
NM_172245.4(CSF2RA):c.703G>A (p.Val235Ile) rs754889776 0.00004
NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) rs200071635 0.00004
NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) rs150603886 0.00003
NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) rs753067685 0.00003
NM_172245.4(CSF2RA):c.741G>A (p.Ser247=) rs761160075 0.00003
NM_172245.4(CSF2RA):c.75G>A (p.Ser25=) rs778872405 0.00003
NM_172245.4(CSF2RA):c.1020C>T (p.Ile340=) rs763685613 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.1185C>T (p.Thr395=) rs747115277 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.273A>C (p.Gly91=) rs1276943766 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.464G>A (p.Arg155Gln) rs200344796 0.00002
NM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu) rs762456506 0.00002
NM_172245.4(CSF2RA):c.76+7A>G rs750353682 0.00002
NM_172245.4(CSF2RA):c.797C>T (p.Thr266Met) rs760548109 0.00002
NM_172245.4(CSF2RA):c.811-4A>G rs1182113966 0.00002
NM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter) rs756203389 0.00002
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.1044-20A>G rs1159974432 0.00001
NM_172245.4(CSF2RA):c.1044-3C>G rs2083459431 0.00001
NM_172245.4(CSF2RA):c.1044-6T>C rs1191379150 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.1123G>A (p.Glu375Lys) rs200259335 0.00001
NM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu) rs202127578 0.00001
NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) rs746211899 0.00001
NM_172245.4(CSF2RA):c.132G>T (p.Thr44=) rs184550681 0.00001
NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) rs762604364 0.00001
NM_172245.4(CSF2RA):c.156A>G (p.Gln52=) rs774362937 0.00001
NM_172245.4(CSF2RA):c.183C>T (p.Phe61=) rs2090588555 0.00001
NM_172245.4(CSF2RA):c.207C>T (p.Val69=) rs1232725447 0.00001
NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) rs747486085 0.00001
NM_172245.4(CSF2RA):c.220-18C>G rs760668639 0.00001
NM_172245.4(CSF2RA):c.240G>A (p.Ser80=) rs753367293 0.00001
NM_172245.4(CSF2RA):c.294G>A (p.Val98=) rs1450948201 0.00001
NM_172245.4(CSF2RA):c.343+5G>A rs1442528862 0.00001
NM_172245.4(CSF2RA):c.344-20T>C rs754747925 0.00001
NM_172245.4(CSF2RA):c.344-4C>T rs1331567785 0.00001
NM_172245.4(CSF2RA):c.366G>C (p.Gln122His) rs769068799 0.00001
NM_172245.4(CSF2RA):c.408T>C (p.Cys136=) rs767203956 0.00001
NM_172245.4(CSF2RA):c.418A>C (p.Arg140=) rs779991524 0.00001
NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) rs201377602 0.00001
NM_172245.4(CSF2RA):c.474-9A>C rs749572385 0.00001
NM_172245.4(CSF2RA):c.525T>C (p.His175=) rs1244917822 0.00001
NM_172245.4(CSF2RA):c.556T>C (p.Leu186=) rs750843321 0.00001
NM_172245.4(CSF2RA):c.57C>T (p.Leu19=) rs1399172803 0.00001
NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter) rs1395037247 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.610C>T (p.Gln204Ter) rs2091299213 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.647-15G>T rs2091706148 0.00001
NM_172245.4(CSF2RA):c.647-8C>T rs753916767 0.00001
NM_172245.4(CSF2RA):c.675C>T (p.Thr225=) rs200972352 0.00001
NM_172245.4(CSF2RA):c.680G>A (p.Arg227His) rs761247845 0.00001
NM_172245.4(CSF2RA):c.693G>A (p.Thr231=) rs769104113 0.00001
NM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile) rs779711299 0.00001
NM_172245.4(CSF2RA):c.77-6T>C rs765007851 0.00001
NM_172245.4(CSF2RA):c.780+17C>T rs752631677 0.00001
NM_172245.4(CSF2RA):c.780+4G>A rs1467836447 0.00001
NM_172245.4(CSF2RA):c.781-20G>A rs773801980 0.00001
NM_172245.4(CSF2RA):c.787C>T (p.Gln263Ter) rs149151916 0.00001
NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala) rs775114336 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.87A>G (p.Thr29=) rs754016607 0.00001
NM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys) rs760925182 0.00001
NM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn) rs373932512 0.00001
NM_172245.4(CSF2RA):c.946+8T>C rs773221517 0.00001
NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) rs771210487 0.00001
NM_172245.4(CSF2RA):c.954C>T (p.Asp318=) rs759952133 0.00001
NM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe) rs769866070 0.00001
NM_172245.4(CSF2RA):c.996C>T (p.Ile332=) rs186573135 0.00001
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.1043+19G>T
NM_172245.4(CSF2RA):c.1043+1G>A
NM_172245.4(CSF2RA):c.1044-11_1044-10del rs750466661
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)
NM_172245.4(CSF2RA):c.1071G>A (p.Pro357=) rs56960778
NM_172245.4(CSF2RA):c.1071G>T (p.Pro357=) rs56960778
NM_172245.4(CSF2RA):c.1110T>C (p.His370=)
NM_172245.4(CSF2RA):c.1116G>A (p.Val372=) rs754054970
NM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln) rs200259335
NM_172245.4(CSF2RA):c.1125+16C>T
NM_172245.4(CSF2RA):c.1125+20G>A
NM_172245.4(CSF2RA):c.1126-14C>G
NM_172245.4(CSF2RA):c.1126-15C>T
NM_172245.4(CSF2RA):c.1128C>A (p.Ile376=)
NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) rs2084015817
NM_172245.4(CSF2RA):c.1140A>G (p.Glu380=)
NM_172245.4(CSF2RA):c.1164C>T (p.Gly388=)
NM_172245.4(CSF2RA):c.1167C>T (p.Tyr389=)
NM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys) rs150603886
NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His)
NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala)
NM_172245.4(CSF2RA):c.12G>C (p.Leu4=)
NM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser) rs2090584002
NM_172245.4(CSF2RA):c.140dup (p.Leu47fs) rs2148312047
NM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter)
NM_172245.4(CSF2RA):c.14T>C (p.Val5Ala) rs771435926
NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser)
NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys)
NM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn) rs1402617835
NM_172245.4(CSF2RA):c.213A>G (p.Glu71=)
NM_172245.4(CSF2RA):c.216C>G (p.Pro72=) rs1472645884
NM_172245.4(CSF2RA):c.219+18T>A
NM_172245.4(CSF2RA):c.219+20C>G
NM_172245.4(CSF2RA):c.219+8G>A
NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) rs2090190168
NM_172245.4(CSF2RA):c.21C>T (p.Ser7=)
NM_172245.4(CSF2RA):c.220-10A>T
NM_172245.4(CSF2RA):c.220-12G>T
NM_172245.4(CSF2RA):c.220-3del
NM_172245.4(CSF2RA):c.220-6C>G
NM_172245.4(CSF2RA):c.220-6C>T
NM_172245.4(CSF2RA):c.220-7T>C
NM_172245.4(CSF2RA):c.221del (p.Leu74fs)
NM_172245.4(CSF2RA):c.231C>T (p.Asn77=)
NM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu) rs201854740
NM_172245.4(CSF2RA):c.240G>C (p.Ser80=) rs753367293
NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) rs2091031726
NM_172245.4(CSF2RA):c.25C>T (p.Leu9=)
NM_172245.4(CSF2RA):c.266A>G (p.His89Arg)
NM_172245.4(CSF2RA):c.27G>A (p.Leu9=) rs2148243374
NM_172245.4(CSF2RA):c.285G>A (p.Glu95=)
NM_172245.4(CSF2RA):c.291C>T (p.His97=)
NM_172245.4(CSF2RA):c.318A>G (p.Gln106=)
NM_172245.4(CSF2RA):c.330T>C (p.Leu110=)
NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) rs1603428019
NM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter)
NM_172245.4(CSF2RA):c.343+14C>G
NM_172245.4(CSF2RA):c.343+19G>C
NM_172245.4(CSF2RA):c.343+4A>G
NM_172245.4(CSF2RA):c.344-12A>G rs2148382883
NM_172245.4(CSF2RA):c.344-16T>C
NM_172245.4(CSF2RA):c.344-5C>G
NM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys) rs1226419238
NM_172245.4(CSF2RA):c.350_353del (p.Glu117fs)
NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) rs756668034
NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser)
NM_172245.4(CSF2RA):c.357C>T (p.Thr119=) rs1275754551
NM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr) rs148928173
NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly)
NM_172245.4(CSF2RA):c.360T>C (p.Ala120=)
NM_172245.4(CSF2RA):c.368_377del (p.Asn123fs) rs2091055139
NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val)
NM_172245.4(CSF2RA):c.402G>T (p.Met134Ile)
NM_172245.4(CSF2RA):c.414G>A (p.Trp138Ter) rs2091060104
NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys)
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.426G>A (p.Pro142=) rs770309852
NM_172245.4(CSF2RA):c.432C>T (p.Ala144=)
NM_172245.4(CSF2RA):c.437G>A (p.Arg146His)
NM_172245.4(CSF2RA):c.43C>T (p.His15Tyr) rs760312267
NM_172245.4(CSF2RA):c.444C>T (p.Val148=)
NM_172245.4(CSF2RA):c.447G>C (p.Gln149His)
NM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr) rs1230316461
NM_172245.4(CSF2RA):c.473+11A>G
NM_172245.4(CSF2RA):c.473+14_473+15del
NM_172245.4(CSF2RA):c.473+17T>C
NM_172245.4(CSF2RA):c.473+19_473+20del rs780028876
NM_172245.4(CSF2RA):c.474-15T>C
NM_172245.4(CSF2RA):c.474-19G>T
NM_172245.4(CSF2RA):c.477_479del (p.Arg161del) rs1325137344
NM_172245.4(CSF2RA):c.480G>A (p.Arg160=)
NM_172245.4(CSF2RA):c.495T>C (p.Cys165=)
NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) rs1603429177
NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu)
NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu)
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.531A>T (p.Gly177=)
NM_172245.4(CSF2RA):c.536A>G (p.His179Arg) rs2148416836
NM_172245.4(CSF2RA):c.537C>T (p.His179=)
NM_172245.4(CSF2RA):c.547del (p.Leu183fs) rs2148417003
NM_172245.4(CSF2RA):c.552A>G (p.Ser184=)
NM_172245.4(CSF2RA):c.555A>G (p.Gly185=)
NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met)
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.586G>C (p.Gly196Arg)
NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser)
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.646+20T>A rs2091303059
NM_172245.4(CSF2RA):c.647-13G>A rs201508841
NM_172245.4(CSF2RA):c.647-13G>T
NM_172245.4(CSF2RA):c.647-14C>T
NM_172245.4(CSF2RA):c.647-2A>G
NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln)
NM_172245.4(CSF2RA):c.663C>A (p.Pro221=) rs1451010949
NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) rs768648388
NM_172245.4(CSF2RA):c.669dup (p.Val224fs)
NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala)
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)
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.707G>A (p.Arg236Gln) rs1418501378
NM_172245.4(CSF2RA):c.720C>T (p.Pro240=)
NM_172245.4(CSF2RA):c.726C>A (p.Thr242=)
NM_172245.4(CSF2RA):c.744C>T (p.Tyr248=)
NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu)
NM_172245.4(CSF2RA):c.76+11A>G
NM_172245.4(CSF2RA):c.76+14C>T
NM_172245.4(CSF2RA):c.76+17G>A
NM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn) rs761350119
NM_172245.4(CSF2RA):c.768C>T (p.Asp256=)
NM_172245.4(CSF2RA):c.77-10C>T
NM_172245.4(CSF2RA):c.77-11G>A
NM_172245.4(CSF2RA):c.77-14C>A rs776015202
NM_172245.4(CSF2RA):c.77-18A>G
NM_172245.4(CSF2RA):c.77-3C>A
NM_172245.4(CSF2RA):c.774_780+10dup rs377345813
NM_172245.4(CSF2RA):c.780+12C>G
NM_172245.4(CSF2RA):c.780+14C>T
NM_172245.4(CSF2RA):c.780+18G>A
NM_172245.4(CSF2RA):c.780+9G>C
NM_172245.4(CSF2RA):c.781-12T>C
NM_172245.4(CSF2RA):c.781-18G>T
NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser)
NM_172245.4(CSF2RA):c.792T>G (p.Pro264=)
NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp)
NM_172245.4(CSF2RA):c.810+11C>A
NM_172245.4(CSF2RA):c.810+18C>A
NM_172245.4(CSF2RA):c.810+18C>G
NM_172245.4(CSF2RA):c.810+20C>T
NM_172245.4(CSF2RA):c.810+2T>A rs2148504379
NM_172245.4(CSF2RA):c.811-11T>C
NM_172245.4(CSF2RA):c.811-19T>A rs2148593410
NM_172245.4(CSF2RA):c.811-8C>T
NM_172245.4(CSF2RA):c.811-9C>T
NM_172245.4(CSF2RA):c.825T>C (p.Gly275=)
NM_172245.4(CSF2RA):c.828T>C (p.Asp276=)
NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp)
NM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr) rs2092297530
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.855C>T (p.Ser285=) rs2148594229
NM_172245.4(CSF2RA):c.865del (p.Arg289fs)
NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr)
NM_172245.4(CSF2RA):c.879T>C (p.Ser293=)
NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val)
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.917G>A (p.Trp306Ter) rs2092302661
NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp)
NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr)
NM_172245.4(CSF2RA):c.946+14G>A
NM_172245.4(CSF2RA):c.946+17G>A
NM_172245.4(CSF2RA):c.946+18G>A rs2148596332
NM_172245.4(CSF2RA):c.947-10G>C
NM_172245.4(CSF2RA):c.947-14G>A
NM_172245.4(CSF2RA):c.957C>T (p.Asp319=)
NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro)
NM_172245.4(CSF2RA):c.984T>C (p.Tyr328=)
NM_172245.4(CSF2RA):c.99C>G (p.Ala33=)

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