ClinVar Miner

List of variants studied for neurocristopathy by Myriad Genetics, Inc.

Included ClinVar conditions (174):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 759
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001370259.2(MEN1):c.-20G>A rs386134244 0.00158
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) rs144599870 0.00145
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044 0.00058
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_004168.4(SDHA):c.456+6G>T rs371735891 0.00047
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00037
NM_004168.4(SDHA):c.622-8T>C rs370714378 0.00037
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_000075.4(CDK4):c.684-4A>T rs370609910 0.00016
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.2607+4C>T rs200634990 0.00015
NM_000075.4(CDK4):c.771G>A (p.Val257=) rs377612647 0.00014
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn) rs774296730 0.00014
NM_020975.6(RET):c.1017G>A (p.Ser339=) rs369810881 0.00014
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00013
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_020975.6(RET):c.1893C>T (p.Asp631=) rs55846256 0.00013
NM_020975.6(RET):c.868-6C>T rs367688294 0.00013
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732 0.00011
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_020975.6(RET):c.2601G>T (p.Glu867Asp) rs141459368 0.00011
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1591G>A (p.Val531Met) rs371056571 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.1880-13C>A rs948277023 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val) rs778728934 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_000075.4(CDK4):c.702A>C (p.Pro234=) rs368081942 0.00006
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_004168.4(SDHA):c.-5C>T rs572126995 0.00006
NM_004168.4(SDHA):c.1064+5G>A rs200021115 0.00006
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) rs377620054 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) rs377767407 0.00006
NM_020975.6(RET):c.2116G>A (p.Val706Met) rs137855422 0.00006
NM_020975.6(RET):c.2409C>T (p.Ile803=) rs535051804 0.00006
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) rs772450693 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) rs772325115 0.00005
NM_020975.6(RET):c.2393-8G>A rs376151644 0.00005
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.784-10C>T rs71526470 0.00004
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser) rs186768244 0.00004
NM_004168.4(SDHA):c.1432+7G>C rs760526397 0.00004
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) rs750327309 0.00004
NM_004168.4(SDHA):c.1930G>A (p.Val644Met) rs3211483 0.00004
NM_004168.4(SDHA):c.456+9C>T rs200565489 0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=) rs765157205 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) rs147014102 0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406 0.00004
NM_020975.6(RET):c.2001A>T (p.Pro667=) rs563316790 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser) rs34617196 0.00004
NM_000075.4(CDK4):c.423G>C (p.Leu141=) rs760242081 0.00003
NM_000075.4(CDK4):c.522+8G>A rs758294834 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000075.4(CDK4):c.753C>G (p.Pro251=) rs757333818 0.00003
NM_000075.4(CDK4):c.84T>C (p.Ser28=) rs763203404 0.00003
NM_000075.4(CDK4):c.870G>C (p.Leu290=) rs1299338481 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_020975.6(RET):c.1018G>T (p.Val340Phe) rs367737920 0.00003
NM_020975.6(RET):c.1063A>G (p.Arg355Gly) rs145402131 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.1878G>A (p.Gln626=) rs147692872 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.2285-4T>G rs376601566 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_000075.4(CDK4):c.178C>T (p.Leu60=) rs1595110993 0.00002
NM_000075.4(CDK4):c.183G>A (p.Arg61=) rs771902016 0.00002
NM_000075.4(CDK4):c.279T>C (p.Phe93=) rs1478574297 0.00002
NM_000075.4(CDK4):c.354+9G>T rs771456729 0.00002
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) rs587778185 0.00002
NM_000075.4(CDK4):c.576A>C (p.Ala192=) rs565563672 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000075.4(CDK4):c.683+7G>A rs565689797 0.00002
NM_000075.4(CDK4):c.906G>A (p.Pro302=) rs375309124 0.00002
NM_000075.4(CDK4):c.96G>C (p.Val32=) rs563392051 0.00002
NM_001370259.2(MEN1):c.1350+6G>A rs746077651 0.00002
NM_001370259.2(MEN1):c.784-16C>T rs754257177 0.00002
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn) rs200021702 0.00002
NM_003001.5(SDHC):c.197C>T (p.Ala66Val) rs760572684 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_004168.4(SDHA):c.109G>A (p.Val37Ile) rs758426529 0.00002
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) rs781747137 0.00002
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) rs751008647 0.00002
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) rs774829203 0.00002
NM_020975.6(RET):c.2041C>G (p.Gln681Glu) rs567241943 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) rs142318626 0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2497C>T (p.Arg833Cys) rs377767422 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_000075.4(CDK4):c.141A>C (p.Gly47=) rs863224320 0.00001
NM_000075.4(CDK4):c.195T>C (p.Ala65=) rs770618992 0.00001
NM_000075.4(CDK4):c.210T>C (p.Asn70=) rs1162061851 0.00001
NM_000075.4(CDK4):c.219-10C>T rs759302811 0.00001
NM_000075.4(CDK4):c.219-5G>C rs1286893141 0.00001
NM_000075.4(CDK4):c.219-7T>C rs543798269 0.00001
NM_000075.4(CDK4):c.222G>A (p.Leu74=) rs565645344 0.00001
NM_000075.4(CDK4):c.228C>T (p.Asp76=) rs772531745 0.00001
NM_000075.4(CDK4):c.24A>C (p.Pro8=) rs756789126 0.00001
NM_000075.4(CDK4):c.252C>T (p.Asp84=) rs780590939 0.00001
NM_000075.4(CDK4):c.288A>G (p.Val96=) rs754092304 0.00001
NM_000075.4(CDK4):c.309T>C (p.Tyr103=) rs554603181 0.00001
NM_000075.4(CDK4):c.348G>A (p.Thr116=) rs761353033 0.00001
NM_000075.4(CDK4):c.355-12C>T rs1004281478 0.00001
NM_000075.4(CDK4):c.355-3T>C rs771392563 0.00001
NM_000075.4(CDK4):c.402T>C (p.Asn134=) rs537039467 0.00001
NM_000075.4(CDK4):c.481C>T (p.Leu161=) rs796860515 0.00001
NM_000075.4(CDK4):c.486C>G (p.Ala162=) rs1595110441 0.00001
NM_000075.4(CDK4):c.501C>T (p.Tyr167=) rs1316207187 0.00001
NM_000075.4(CDK4):c.504G>A (p.Gln168=) rs770086242 0.00001
NM_000075.4(CDK4):c.519C>T (p.Pro173=) rs747084709 0.00001
NM_000075.4(CDK4):c.523-11A>G rs958372242 0.00001
NM_000075.4(CDK4):c.523-16T>C rs368524338 0.00001
NM_000075.4(CDK4):c.534C>T (p.Leu178=) rs11547327 0.00001
NM_000075.4(CDK4):c.543A>C (p.Arg181=) rs745772539 0.00001
NM_000075.4(CDK4):c.597T>C (p.Ser199=) rs1260582581 0.00001
NM_000075.4(CDK4):c.60G>A (p.Val20=) rs1595111186 0.00001
NM_000075.4(CDK4):c.632+8A>G rs1269709231 0.00001
NM_000075.4(CDK4):c.632+9C>T rs1192976748 0.00001
NM_000075.4(CDK4):c.645T>C (p.Cys215=) rs751861614 0.00001
NM_000075.4(CDK4):c.654T>C (p.Ser218=) rs766518915 0.00001
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152 0.00001
NM_000075.4(CDK4):c.663C>T (p.Asp221=) rs1205343806 0.00001
NM_000075.4(CDK4):c.684-10dup rs757684130 0.00001
NM_000075.4(CDK4):c.684-14C>T rs750471090 0.00001
NM_000075.4(CDK4):c.684-5C>T rs765361338 0.00001
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622 0.00001
NM_000075.4(CDK4):c.795G>A (p.Glu265=) rs747521511 0.00001
NM_000075.4(CDK4):c.798G>A (p.Glu266=) rs780522588 0.00001
NM_000075.4(CDK4):c.801G>A (p.Ser267=) rs201744062 0.00001
NM_000075.4(CDK4):c.820-4T>C rs750073768 0.00001
NM_000075.4(CDK4):c.843C>T (p.His281=) rs750061873 0.00001
NM_000075.4(CDK4):c.846G>A (p.Lys282=) rs1248502310 0.00001
NM_000075.4(CDK4):c.864A>T (p.Arg288=) rs1369349270 0.00001
NM_000075.4(CDK4):c.87C>T (p.Gly29=) rs1555201376 0.00001
NM_000075.4(CDK4):c.882T>C (p.Tyr294=) rs1307304019 0.00001
NM_001370259.2(MEN1):c.1186-6G>A rs576193460 0.00001
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) rs1060499974 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370259.2(MEN1):c.913-8C>T rs373893527 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe) rs1473438869 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) rs746165168 0.00001
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) rs151170408 0.00001
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) rs878854625 0.00001
NM_004168.4(SDHA):c.1338del (p.His447fs) rs1735791499 0.00001
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) rs143798161 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) rs747249998 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) rs775827529 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) rs878854638 0.00001
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780 0.00001
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) rs771328239 0.00001
NM_020975.6(RET):c.1008C>G (p.Asn336Lys) rs144981275 0.00001
NM_020975.6(RET):c.1052T>A (p.Val351Glu) rs749449032 0.00001
NM_020975.6(RET):c.1574G>A (p.Arg525Gln) rs752830820 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1760-3C>T rs587781734 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.1915G>A (p.Ala639Thr) rs777122776 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2080C>T (p.Arg694Trp) rs193922700 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) rs1352006130 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2607+5G>A rs143862573 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2758A>G (p.Ile920Val) rs527787676 0.00001
NM_020975.6(RET):c.2776C>G (p.His926Asp) rs774215008 0.00001
NM_020975.6(RET):c.884C>T (p.Thr295Met) rs758159521 0.00001
NM_000075.4(CDK4):c.*10T>A
NM_000075.4(CDK4):c.*2C>A
NM_000075.4(CDK4):c.*6G>A
NM_000075.4(CDK4):c.*9G>A
NM_000075.4(CDK4):c.102C>A (p.Leu34=)
NM_000075.4(CDK4):c.108T>C (p.Ser36=)
NM_000075.4(CDK4):c.111G>A (p.Val37=) rs1456215691
NM_000075.4(CDK4):c.117C>A (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.117C>T (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.123T>C (p.Asn41=)
NM_000075.4(CDK4):c.126A>C (p.Gly42=)
NM_000075.4(CDK4):c.126A>G (p.Gly42=)
NM_000075.4(CDK4):c.12T>C (p.Ser4=) rs1595111261
NM_000075.4(CDK4):c.132A>T (p.Gly44=) rs878853621
NM_000075.4(CDK4):c.135T>C (p.Gly45=)
NM_000075.4(CDK4):c.13C>A (p.Arg5=)
NM_000075.4(CDK4):c.144C>A (p.Gly48=)
NM_000075.4(CDK4):c.144C>T (p.Gly48=)
NM_000075.4(CDK4):c.147T>C (p.Leu49=) rs1060504383
NM_000075.4(CDK4):c.147T>G (p.Leu49=)
NM_000075.4(CDK4):c.153C>T (p.Ile51=) rs1555201373
NM_000075.4(CDK4):c.159A>G (p.Thr53=)
NM_000075.4(CDK4):c.15A>C (p.Arg5=)
NM_000075.4(CDK4):c.165T>G (p.Arg55=) rs1595111002
NM_000075.4(CDK4):c.171G>A (p.Val57=)
NM_000075.4(CDK4):c.177A>G (p.Leu59=)
NM_000075.4(CDK4):c.180G>A (p.Leu60=) rs1555201367
NM_000075.4(CDK4):c.186A>C (p.Arg62=)
NM_000075.4(CDK4):c.189G>A (p.Leu63=) rs2140388192
NM_000075.4(CDK4):c.198T>C (p.Phe66=) rs1595110954
NM_000075.4(CDK4):c.207C>T (p.Pro69=)
NM_000075.4(CDK4):c.216C>A (p.Val72=) rs1294424179
NM_000075.4(CDK4):c.218+8G>T
NM_000075.4(CDK4):c.218+9G>A
NM_000075.4(CDK4):c.219-11A>G
NM_000075.4(CDK4):c.219-11A>T
NM_000075.4(CDK4):c.219-17G>A rs767249235
NM_000075.4(CDK4):c.219-17G>C rs767249235
NM_000075.4(CDK4):c.219-17_219-16delinsAT
NM_000075.4(CDK4):c.219-18A>T
NM_000075.4(CDK4):c.219-20T>C
NM_000075.4(CDK4):c.219-6G>T
NM_000075.4(CDK4):c.220C>T (p.Leu74=)
NM_000075.4(CDK4):c.222G>T (p.Leu74=) rs565645344
NM_000075.4(CDK4):c.246A>C (p.Arg82=) rs2140387517
NM_000075.4(CDK4):c.249T>C (p.Thr83=)
NM_000075.4(CDK4):c.24A>G (p.Pro8=)
NM_000075.4(CDK4):c.255G>A (p.Arg85=)
NM_000075.4(CDK4):c.255G>C (p.Arg85=)
NM_000075.4(CDK4):c.258G>A (p.Glu86=) rs1247612368
NM_000075.4(CDK4):c.261C>A (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.261C>T (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.264G>A (p.Lys88=) rs2140387452
NM_000075.4(CDK4):c.267A>G (p.Val89=) rs886049715
NM_000075.4(CDK4):c.270C>A (p.Thr90=)
NM_000075.4(CDK4):c.271C>T (p.Leu91=) rs949558438
NM_000075.4(CDK4):c.276G>A (p.Val92=) rs918094121
NM_000075.4(CDK4):c.276G>T (p.Val92=)
NM_000075.4(CDK4):c.282G>A (p.Glu94=)
NM_000075.4(CDK4):c.285T>C (p.His95=) rs757492324
NM_000075.4(CDK4):c.298C>T (p.Leu100=)
NM_000075.4(CDK4):c.300A>G (p.Leu100=) rs2140387344
NM_000075.4(CDK4):c.303G>A (p.Arg101=)
NM_000075.4(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.312G>A (p.Leu104=) rs2140387313
NM_000075.4(CDK4):c.324C>G (p.Pro108=) rs774075369
NM_000075.4(CDK4):c.333C>A (p.Gly111=) rs1595110689
NM_000075.4(CDK4):c.334T>C (p.Leu112=) rs1555201318
NM_000075.4(CDK4):c.342C>G (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.342C>T (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.348G>T (p.Thr116=)
NM_000075.4(CDK4):c.351C>A (p.Ile117=)
NM_000075.4(CDK4):c.351C>T (p.Ile117=)
NM_000075.4(CDK4):c.354+10G>A rs1955232744
NM_000075.4(CDK4):c.354+10G>C
NM_000075.4(CDK4):c.354+3G>A rs746395249
NM_000075.4(CDK4):c.354+9G>C rs771456729
NM_000075.4(CDK4):c.355-10T>C rs1595110574
NM_000075.4(CDK4):c.355-14C>T
NM_000075.4(CDK4):c.355-17C>T
NM_000075.4(CDK4):c.355-18C>T
NM_000075.4(CDK4):c.355-7A>C
NM_000075.4(CDK4):c.366C>A (p.Arg122=)
NM_000075.4(CDK4):c.373C>T (p.Leu125=)
NM_000075.4(CDK4):c.375A>G (p.Leu125=) rs2640603
NM_000075.4(CDK4):c.378A>G (p.Arg126=)
NM_000075.4(CDK4):c.381C>T (p.Gly127=) rs781207390
NM_000075.4(CDK4):c.382C>T (p.Leu128=)
NM_000075.4(CDK4):c.390C>T (p.Phe130=)
NM_000075.4(CDK4):c.393T>A (p.Leu131=)
NM_000075.4(CDK4):c.405C>T (p.Cys135=)
NM_000075.4(CDK4):c.408C>T (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.420T>C (p.Asp140=) rs863224321
NM_000075.4(CDK4):c.423G>A (p.Leu141=) rs760242081
NM_000075.4(CDK4):c.42C>G (p.Val14=)
NM_000075.4(CDK4):c.42C>T (p.Val14=) rs786203182
NM_000075.4(CDK4):c.444G>A (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.444G>T (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.453T>C (p.Gly151=) rs2140386487
NM_000075.4(CDK4):c.462C>G (p.Val154=) rs1190412756
NM_000075.4(CDK4):c.466C>T (p.Leu156=)
NM_000075.4(CDK4):c.468G>A (p.Leu156=)
NM_000075.4(CDK4):c.483G>A (p.Leu161=)
NM_000075.4(CDK4):c.48C>G (p.Ala16=) rs1311074831
NM_000075.4(CDK4):c.48C>T (p.Ala16=)
NM_000075.4(CDK4):c.492C>T (p.Ile164=)
NM_000075.4(CDK4):c.498C>T (p.Ser166=)
NM_000075.4(CDK4):c.513T>C (p.Leu171=) rs748319770
NM_000075.4(CDK4):c.519C>A (p.Pro173=)
NM_000075.4(CDK4):c.522+10_522+13del
NM_000075.4(CDK4):c.522+7A>G rs1294665075
NM_000075.4(CDK4):c.522+8del
NM_000075.4(CDK4):c.522+9A>C rs2140386258
NM_000075.4(CDK4):c.523-13C>T
NM_000075.4(CDK4):c.523-17C>T
NM_000075.4(CDK4):c.523-19T>C
NM_000075.4(CDK4):c.523-20A>C
NM_000075.4(CDK4):c.523-20A>G
NM_000075.4(CDK4):c.523-20A>T rs1595110299
NM_000075.4(CDK4):c.523-6C>T
NM_000075.4(CDK4):c.523-7C>T rs2140385923
NM_000075.4(CDK4):c.523-8C>T
NM_000075.4(CDK4):c.528T>C (p.Val176=)
NM_000075.4(CDK4):c.531A>G (p.Thr177=) rs2140385880
NM_000075.4(CDK4):c.534C>G (p.Leu178=) rs11547327
NM_000075.4(CDK4):c.540C>T (p.Tyr180=)
NM_000075.4(CDK4):c.549C>G (p.Pro183=) rs778696237
NM_000075.4(CDK4):c.54G>A (p.Gly18=)
NM_000075.4(CDK4):c.54G>C (p.Gly18=)
NM_000075.4(CDK4):c.54G>T (p.Gly18=)
NM_000075.4(CDK4):c.555T>A (p.Val185=)
NM_000075.4(CDK4):c.561G>T (p.Leu187=) rs864622342
NM_000075.4(CDK4):c.564G>A (p.Gln188=) rs1057521685
NM_000075.4(CDK4):c.567C>T (p.Ser189=) rs144422354
NM_000075.4(CDK4):c.570A>C (p.Thr190=) rs1428628208
NM_000075.4(CDK4):c.570A>G (p.Thr190=)
NM_000075.4(CDK4):c.570A>T (p.Thr190=)
NM_000075.4(CDK4):c.573T>C (p.Tyr191=) rs878853623
NM_000075.4(CDK4):c.588C>T (p.Asp196=) rs2140385708
NM_000075.4(CDK4):c.600T>C (p.Val200=)
NM_000075.4(CDK4):c.603C>G (p.Gly201=) rs2140385667
NM_000075.4(CDK4):c.603C>T (p.Gly201=)
NM_000075.4(CDK4):c.606T>C (p.Cys202=)
NM_000075.4(CDK4):c.609C>A (p.Ile203=) rs864622504
NM_000075.4(CDK4):c.612T>C (p.Phe204=) rs1555201266
NM_000075.4(CDK4):c.630A>C (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.630A>G (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.632+4T>A rs1397979744
NM_000075.4(CDK4):c.632+5dup rs1555201260
NM_000075.4(CDK4):c.632+7G>A rs1955225535
NM_000075.4(CDK4):c.632+7del
NM_000075.4(CDK4):c.633-10C>T
NM_000075.4(CDK4):c.633-13C>T
NM_000075.4(CDK4):c.633-14C>T
NM_000075.4(CDK4):c.633-18T>C rs2140384054
NM_000075.4(CDK4):c.633-20T>C
NM_000075.4(CDK4):c.633-5C>T
NM_000075.4(CDK4):c.633-6C>T rs2140384011
NM_000075.4(CDK4):c.633-8C>T rs536249985
NM_000075.4(CDK4):c.636T>A (p.Pro212=)
NM_000075.4(CDK4):c.639C>A (p.Leu213=) rs2140383965
NM_000075.4(CDK4):c.639C>G (p.Leu213=)
NM_000075.4(CDK4):c.639C>T (p.Leu213=) rs2140383965
NM_000075.4(CDK4):c.63C>T (p.Tyr21=)
NM_000075.4(CDK4):c.648A>C (p.Gly216=) rs2140383924
NM_000075.4(CDK4):c.651C>T (p.Asn217=) rs876659462
NM_000075.4(CDK4):c.666G>A (p.Gln222=) rs1324120646
NM_000075.4(CDK4):c.667T>C (p.Leu223=) rs2140383860
NM_000075.4(CDK4):c.669G>A (p.Leu223=)
NM_000075.4(CDK4):c.672C>A (p.Gly224=)
NM_000075.4(CDK4):c.683+8A>T rs1446831422
NM_000075.4(CDK4):c.683+8del rs2140383751
NM_000075.4(CDK4):c.684-11G>A
NM_000075.4(CDK4):c.684-12T>C
NM_000075.4(CDK4):c.684-17T>C
NM_000075.4(CDK4):c.684-19G>C
NM_000075.4(CDK4):c.684-20A>C
NM_000075.4(CDK4):c.684-20_684-19del
NM_000075.4(CDK4):c.684-4A>G rs370609910
NM_000075.4(CDK4):c.684-7C>T rs1955203177
NM_000075.4(CDK4):c.684-8C>T rs2140383220
NM_000075.4(CDK4):c.690T>A (p.Ile230=)
NM_000075.4(CDK4):c.690T>C (p.Ile230=) rs886049714
NM_000075.4(CDK4):c.693G>C (p.Gly231=)
NM_000075.4(CDK4):c.69C>T (p.Ala23=)
NM_000075.4(CDK4):c.705G>A (p.Glu235=) rs374223296
NM_000075.4(CDK4):c.718C>A (p.Arg240=) rs786203856
NM_000075.4(CDK4):c.726A>T (p.Val242=)
NM_000075.4(CDK4):c.729C>T (p.Ser243=)
NM_000075.4(CDK4):c.730C>T (p.Leu244=) rs2140382971
NM_000075.4(CDK4):c.741A>G (p.Gly247=) rs1595108773
NM_000075.4(CDK4):c.744C>G (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.744C>T (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.747T>C (p.Phe249=) rs886049713
NM_000075.4(CDK4):c.753C>A (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.753C>T (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.759G>A (p.Gly253=)
NM_000075.4(CDK4):c.759G>C (p.Gly253=)
NM_000075.4(CDK4):c.75T>C (p.Asp25=)
NM_000075.4(CDK4):c.762C>T (p.Pro254=) rs753908111
NM_000075.4(CDK4):c.765C>G (p.Arg255=)
NM_000075.4(CDK4):c.768A>G (p.Pro256=)
NM_000075.4(CDK4):c.777G>C (p.Ser259=) rs3211622
NM_000075.4(CDK4):c.780G>A (p.Val260=) rs1955200396
NM_000075.4(CDK4):c.780G>T (p.Val260=)
NM_000075.4(CDK4):c.783A>T (p.Val261=)
NM_000075.4(CDK4):c.786T>C (p.Pro262=)
NM_000075.4(CDK4):c.786T>G (p.Pro262=)
NM_000075.4(CDK4):c.78C>T (p.Pro26=) rs1057523487
NM_000075.4(CDK4):c.801G>C (p.Ser267=) rs201744062
NM_000075.4(CDK4):c.807A>G (p.Ala269=)
NM_000075.4(CDK4):c.811C>T (p.Leu271=)
NM_000075.4(CDK4):c.816G>A (p.Leu272=)
NM_000075.4(CDK4):c.819+7G>A
NM_000075.4(CDK4):c.819+7del rs1217545832
NM_000075.4(CDK4):c.819+8A>T
NM_000075.4(CDK4):c.81C>T (p.His27=)
NM_000075.4(CDK4):c.820-12C>T
NM_000075.4(CDK4):c.820-14G>A
NM_000075.4(CDK4):c.820-17T>C
NM_000075.4(CDK4):c.820-19C>T
NM_000075.4(CDK4):c.820-20A>T
NM_000075.4(CDK4):c.820-6C>T
NM_000075.4(CDK4):c.820-7C>T
NM_000075.4(CDK4):c.820-7_820-6insG
NM_000075.4(CDK4):c.820-8C>T
NM_000075.4(CDK4):c.822A>G (p.Glu274=)
NM_000075.4(CDK4):c.831T>C (p.Thr277=)
NM_000075.4(CDK4):c.837C>T (p.Asn279=)
NM_000075.4(CDK4):c.840A>T (p.Pro280=)
NM_000075.4(CDK4):c.849A>G (p.Arg283=) rs1595107798
NM_000075.4(CDK4):c.852C>A (p.Ile284=)
NM_000075.4(CDK4):c.858C>T (p.Ala286=)
NM_000075.4(CDK4):c.862C>A (p.Arg288=)
NM_000075.4(CDK4):c.867T>C (p.Ala289=)
NM_000075.4(CDK4):c.868C>T (p.Leu290=) rs1555201026
NM_000075.4(CDK4):c.870G>T (p.Leu290=) rs1299338481
NM_000075.4(CDK4):c.876C>T (p.His292=) rs1595107737
NM_000075.4(CDK4):c.879T>C (p.Ser293=)
NM_000075.4(CDK4):c.87C>G (p.Gly29=) rs1555201376
NM_000075.4(CDK4):c.900T>C (p.Gly300=)
NM_000075.4(CDK4):c.900T>G (p.Gly300=)
NM_000075.4(CDK4):c.906G>C (p.Pro302=) rs375309124
NM_000075.4(CDK4):c.911G>A (p.Ter304=)
NM_000075.4(CDK4):c.93T>C (p.Phe31=)
NM_000075.4(CDK4):c.96G>A (p.Val32=)
NM_000075.4(CDK4):c.99C>T (p.Ala33=)
NM_000075.4(CDK4):c.9C>G (p.Thr3=)
NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs) rs1592637081
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1350+3G>A
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter) rs2136089217
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.416del (p.His139fs)
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg) rs1057521110
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs) rs1592649069
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
NM_001370259.2(MEN1):c.824+2T>C
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) rs750904332
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer) rs1553179340
NM_003000.3(SDHB):c.1A>G (p.Met1Val)
NM_003000.3(SDHB):c.200+1G>A rs2101541309
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
NM_003000.3(SDHB):c.210dup (p.Met71fs) rs794728947
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.286+2T>A rs587781270
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs) rs786201316
NM_003000.3(SDHB):c.375_376delinsGT (p.Lys126Ter)
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter) rs1553177676
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.603G>A (p.Trp201Ter)
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.643-1G>A rs1553177292
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter) rs1553177290
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003000.3(SDHB):c.71dup (p.Ala25fs) rs1131691057
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)
NM_003001.5(SDHC):c.118del (p.Arg40fs)
NM_003001.5(SDHC):c.118dup (p.Arg40fs)
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.1A>T (p.Met1Leu) rs755235380
NM_003001.5(SDHC):c.204dup (p.Ile69fs)
NM_003001.5(SDHC):c.21-2A>G rs1131691062
NM_003001.5(SDHC):c.226dup (p.Ile76fs)
NM_003001.5(SDHC):c.242-2_242-1insT
NM_003001.5(SDHC):c.250_251del (p.Leu84fs) rs2102370242
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) rs1553265817
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003001.5(SDHC):c.405+1G>C rs587776653
NM_003001.5(SDHC):c.406-1G>A
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.49del (p.His17fs)
NM_003001.5(SDHC):c.77+1G>C
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.13_14del (p.Trp5fs) rs1566690018
NM_003002.4(SDHD):c.147dup (p.His50fs) rs876659130
NM_003002.4(SDHD):c.305A>G (p.His102Arg) rs104894302
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter) rs1314133983
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)
NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs)
NM_003640.5(ELP1):c.1202_1203del (p.Val401fs)
NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs)
NM_003640.5(ELP1):c.1619_1620insT (p.Glu540fs)
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)
NM_003640.5(ELP1):c.1934del (p.Ala645fs)
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)
NM_003640.5(ELP1):c.2474dup (p.Val826fs)
NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
NM_003640.5(ELP1):c.2562del (p.Leu855fs)
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)
NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs)
NM_003640.5(ELP1):c.2677del (p.His893fs)
NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs)
NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs)
NM_003640.5(ELP1):c.2779del (p.Met927fs)
NM_003640.5(ELP1):c.2795del (p.Gln932fs)
NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs)
NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs)
NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs)
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)
NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs)
NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs)
NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs)
NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs)
NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs)
NM_003640.5(ELP1):c.343_344del (p.Met115fs)
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)
NM_003640.5(ELP1):c.3510del (p.Ser1170fs)
NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs)
NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs)
NM_003640.5(ELP1):c.3624del (p.Glu1209fs)
NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)
NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)
NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer)
NM_003640.5(ELP1):c.574del (p.Asp192fs)
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)
NM_003640.5(ELP1):c.812del (p.Asn271fs)
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)
NM_004168.4(SDHA):c.-28_-20dup
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) rs1553999038
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1065-2A>G
NM_004168.4(SDHA):c.1192del (p.Glu398fs)
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs) rs1385076821
NM_004168.4(SDHA):c.1257del (p.Gln420fs)
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) rs1579407009
NM_004168.4(SDHA):c.1260+1G>T
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1273G>A (p.Val425Met) rs201822097
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
NM_004168.4(SDHA):c.1367C>A (p.Ser456Ter)
NM_004168.4(SDHA):c.1373T>A (p.Leu458Ter)
NM_004168.4(SDHA):c.1432+1G>T rs878854628
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG rs1579410180
NM_004168.4(SDHA):c.1432+2T>G
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1473del (p.Glu491fs)
NM_004168.4(SDHA):c.151-2A>G
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) rs1064793567
NM_004168.4(SDHA):c.1551+1G>C
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1586del (p.Gly529fs)
NM_004168.4(SDHA):c.1608del (p.Cys536fs)
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter) rs1560985916
NM_004168.4(SDHA):c.1615dup (p.Ile539fs) rs1554001843
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1663G>T (p.Gly555Ter)
NM_004168.4(SDHA):c.1664-16_1666del
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs)
NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter)
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs) rs1561010916
NM_004168.4(SDHA):c.1832del (p.Gln611fs) rs1554002451
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.1A>C (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter) rs878854631
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) rs2126542910
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter)
NM_004168.4(SDHA):c.2T>A (p.Met1Lys) rs750380279
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter) rs1423978863
NM_004168.4(SDHA):c.324dup (p.Ala109fs)
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) rs1734957331
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
NM_004168.4(SDHA):c.403del (p.Asp135fs)
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.457-1G>A
NM_004168.4(SDHA):c.464del (p.Asn155fs)
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) rs1560980939
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004168.4(SDHA):c.554dup (p.Ala186fs) rs1173940446
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs)
NM_004168.4(SDHA):c.596_599del (p.Ser199fs)
NM_004168.4(SDHA):c.5dup (p.Val4fs)
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) rs876658486
NM_004168.4(SDHA):c.622-1G>A rs1285132774
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) rs775143272
NM_004168.4(SDHA):c.63+1G>C
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.637dup (p.Thr213fs)
NM_004168.4(SDHA):c.649dup (p.Val217fs)
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.722_726del (p.Asp241fs) rs1553998229
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.775del (p.Tyr259fs) rs1553998606
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter)
NM_004168.4(SDHA):c.786del (p.Tyr263fs) rs1553998613
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.862C>T (p.Gln288Ter)
NM_004168.4(SDHA):c.870dup (p.Glu291fs)
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) rs1560992565
NM_004168.4(SDHA):c.895+1del rs2126568833
NM_004168.4(SDHA):c.895+2T>C
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004168.4(SDHA):c.955A>G (p.Ile319Val) rs377509915
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer) rs886041867
NM_004168.4(SDHA):c.995_996del (p.Pro332fs) rs1560994766
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_004168.4(SDHA):c.99dup (p.His34fs)
NM_004168.4(SDHA):c.9_10dup (p.Val4fs)
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1538C>T (p.Ala513Val) rs149238501
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1777G>A (p.Gly593Arg) rs878855059
NM_020975.6(RET):c.1825T>G (p.Cys609Gly) rs77558292
NM_020975.6(RET):c.1826G>C (p.Cys609Ser) rs77939446
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) rs377767405
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) rs377767440
NM_020975.6(RET):c.2030G>A (p.Arg677Gln) rs536038262
NM_020975.6(RET):c.2111T>A (p.Val704Asp)
NM_020975.6(RET):c.2285-16C>T rs781027098
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2393-14C>G rs144269978
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2492G>T (p.Gly831Val) rs760924186
NM_020975.6(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2531G>T (p.Arg844Leu) rs55947360
NM_020975.6(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020975.6(RET):c.2554A>G (p.Ile852Val) rs561276725
NM_020975.6(RET):c.2608-8C>T
NM_020975.6(RET):c.2641C>G (p.Leu881Val) rs377767427
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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