ClinVar Miner

List of variants in gene MED25 studied for Charcot-Marie-Tooth disease type 2

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Gene type:
ClinVar version:
Total variants: 684
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HGVS dbSNP gnomAD frequency
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.01828
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_030973.4(MED25):c.2056C>T (p.Leu686=) rs201969940 0.00598
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_030973.4(MED25):c.688+17G>A rs373952366 0.00188
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_030973.4(MED25):c.354C>T (p.Leu118=) rs145574885 0.00110
NM_030973.4(MED25):c.151C>T (p.Pro51Ser) rs147869920 0.00104
NM_030973.4(MED25):c.1374+9C>T rs574703435 0.00090
NM_030973.4(MED25):c.638T>C (p.Val213Ala) rs144892223 0.00081
NM_030973.4(MED25):c.602C>T (p.Pro201Leu) rs144354024 0.00054
NM_030973.4(MED25):c.689-3C>T rs199623358 0.00047
NM_030973.4(MED25):c.664C>T (p.Leu222=) rs147538736 0.00046
NM_030973.4(MED25):c.1677G>C (p.Met559Ile) rs369006637 0.00041
NM_030973.4(MED25):c.1231-8C>T rs200594031 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_030973.4(MED25):c.679G>A (p.Val227Met) rs369825113 0.00036
NM_030973.4(MED25):c.2208C>T (p.Ser736=) rs376796439 0.00030
NM_030973.4(MED25):c.1434G>A (p.Lys478=) rs181389801 0.00028
NM_030973.4(MED25):c.1062C>T (p.Ser354=) rs140345077 0.00026
NM_030973.4(MED25):c.404+16A>G rs190980102 0.00026
NM_030973.4(MED25):c.134+20C>T rs372600662 0.00022
NM_030973.4(MED25):c.1002C>T (p.Gly334=) rs142842628 0.00021
NM_030973.4(MED25):c.1132G>A (p.Gly378Ser) rs138166258 0.00020
NM_030973.4(MED25):c.1482C>T (p.Phe494=) rs185234938 0.00018
NM_030973.4(MED25):c.247C>G (p.Gln83Glu) rs143148835 0.00018
NM_030973.4(MED25):c.1095G>A (p.Pro365=) rs373128874 0.00017
NM_030973.4(MED25):c.733G>C (p.Val245Leu) rs771068558 0.00016
NM_030973.4(MED25):c.306-10del rs772259172 0.00015
NM_030973.4(MED25):c.1747-19_1747-18del rs752695799 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_030973.4(MED25):c.629C>T (p.Pro210Leu) rs370423922 0.00014
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) rs370994862 0.00013
NM_030973.4(MED25):c.1533C>T (p.Leu511=) rs376038328 0.00013
NM_030973.4(MED25):c.1786G>A (p.Val596Ile) rs369707406 0.00013
NM_030973.4(MED25):c.305+17T>G rs763308680 0.00013
NM_030973.4(MED25):c.1438C>G (p.Leu480Val) rs148214958 0.00011
NM_030973.4(MED25):c.286A>G (p.Thr96Ala) rs201460460 0.00011
NM_030973.4(MED25):c.689T>C (p.Val230Ala) rs199982073 0.00011
NM_030973.4(MED25):c.1377C>T (p.Thr459=) rs374928221 0.00010
NM_030973.4(MED25):c.2181G>A (p.Pro727=) rs775431728 0.00010
NM_030973.4(MED25):c.1055C>T (p.Pro352Leu) rs764267049 0.00009
NM_030973.4(MED25):c.181-13C>T rs377070498 0.00009
NM_030973.4(MED25):c.1906C>A (p.Arg636=) rs761434818 0.00009
NM_030973.4(MED25):c.819+15G>A rs772300740 0.00009
NM_030973.4(MED25):c.942C>T (p.Pro314=) rs373971747 0.00009
NM_030973.4(MED25):c.1801G>A (p.Ala601Thr) rs767338688 0.00008
NM_030973.4(MED25):c.1101+4G>A rs746210338 0.00007
NM_030973.4(MED25):c.1227A>G (p.Gln409=) rs769851706 0.00007
NM_030973.4(MED25):c.1756C>T (p.Arg586Cys) rs752175666 0.00007
NM_030973.4(MED25):c.2146+12C>T rs778556242 0.00007
NM_030973.4(MED25):c.570G>C (p.Ala190=) rs759800230 0.00007
NM_030973.4(MED25):c.825C>T (p.Pro275=) rs771874021 0.00007
NM_030973.4(MED25):c.1038G>T (p.Leu346=) rs759964732 0.00006
NM_030973.4(MED25):c.1675-6G>A rs374698299 0.00006
NM_030973.4(MED25):c.1746+17C>T rs376067132 0.00006
NM_030973.4(MED25):c.1762C>T (p.Pro588Ser) rs777358313 0.00006
NM_030973.4(MED25):c.418C>T (p.Arg140Trp) rs781140315 0.00006
NM_030973.4(MED25):c.802G>A (p.Val268Ile) rs1015978148 0.00006
NM_030973.4(MED25):c.843T>C (p.Ala281=) rs765788595 0.00006
NM_030973.4(MED25):c.1572C>T (p.Gly524=) rs559482732 0.00005
NM_030973.4(MED25):c.1785C>T (p.Thr595=) rs530025381 0.00005
NM_030973.4(MED25):c.1841C>T (p.Pro614Leu) rs201294692 0.00005
NM_030973.4(MED25):c.2146+17G>T rs561588731 0.00005
NM_030973.4(MED25):c.1076C>T (p.Thr359Met) rs750201507 0.00004
NM_030973.4(MED25):c.1335C>T (p.Pro445=) rs372191174 0.00004
NM_030973.4(MED25):c.1605C>T (p.Asn535=) rs922801210 0.00004
NM_030973.4(MED25):c.1873G>A (p.Ala625Thr) rs1038939766 0.00004
NM_030973.4(MED25):c.1964C>T (p.Pro655Leu) rs202187834 0.00004
NM_030973.4(MED25):c.1966-12G>C rs754403001 0.00004
NM_030973.4(MED25):c.1989C>T (p.Pro663=) rs762594410 0.00004
NM_030973.4(MED25):c.2046G>A (p.Pro682=) rs755620011 0.00004
NM_030973.4(MED25):c.2071T>C (p.Leu691=) rs75970529 0.00004
NM_030973.4(MED25):c.2147-16C>T rs569169080 0.00004
NM_030973.4(MED25):c.2209G>A (p.Val737Ile) rs767118345 0.00004
NM_030973.4(MED25):c.232C>G (p.Pro78Ala) rs773539397 0.00004
NM_030973.4(MED25):c.306-9C>T rs1458825800 0.00004
NM_030973.4(MED25):c.309C>A (p.Phe103Leu) rs918394135 0.00004
NM_030973.4(MED25):c.342C>T (p.Ile114=) rs367931150 0.00004
NM_030973.4(MED25):c.4G>C (p.Val2Leu) rs780512266 0.00004
NM_030973.4(MED25):c.689-11C>T rs767365955 0.00004
NM_030973.4(MED25):c.800C>T (p.Pro267Leu) rs757939861 0.00004
NM_030973.4(MED25):c.810G>A (p.Pro270=) rs369512125 0.00004
NM_030973.4(MED25):c.855G>A (p.Ala285=) rs374949762 0.00004
NM_030973.4(MED25):c.1141C>T (p.Pro381Ser) rs751399299 0.00003
NM_030973.4(MED25):c.1167C>T (p.Leu389=) rs992676211 0.00003
NM_030973.4(MED25):c.1168G>A (p.Gly390Ser) rs752599816 0.00003
NM_030973.4(MED25):c.1508C>T (p.Thr503Met) rs759574296 0.00003
NM_030973.4(MED25):c.1593C>T (p.Ser531=) rs774774157 0.00003
NM_030973.4(MED25):c.1747-13C>G rs372428025 0.00003
NM_030973.4(MED25):c.1764G>A (p.Pro588=) rs758729127 0.00003
NM_030973.4(MED25):c.1998C>T (p.Ser666=) rs774172228 0.00003
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu) rs764017333 0.00003
NM_030973.4(MED25):c.2098C>T (p.Pro700Ser) rs745533616 0.00003
NM_030973.4(MED25):c.2147-8C>T rs754555048 0.00003
NM_030973.4(MED25):c.2193G>A (p.Pro731=) rs374361800 0.00003
NM_030973.4(MED25):c.600C>T (p.Pro200=) rs753910880 0.00003
NM_030973.4(MED25):c.678C>T (p.Leu226=) rs770604129 0.00003
NM_030973.4(MED25):c.688+16C>T rs536606686 0.00003
NM_030973.4(MED25):c.764C>G (p.Ala255Gly) rs763825256 0.00003
NM_030973.4(MED25):c.771C>T (p.Leu257=) rs201142674 0.00003
NM_030973.4(MED25):c.904C>T (p.Arg302Cys) rs775122561 0.00003
NM_030973.4(MED25):c.956C>A (p.Pro319His) rs139822988 0.00003
NM_030973.4(MED25):c.96C>T (p.Phe32=) rs138246339 0.00003
NM_030973.4(MED25):c.1094C>T (p.Pro365Leu) rs536678372 0.00002
NM_030973.4(MED25):c.1102-10C>T rs775817056 0.00002
NM_030973.4(MED25):c.1212G>A (p.Gly404=) rs781693362 0.00002
NM_030973.4(MED25):c.1278A>T (p.Ser426=) rs1235405156 0.00002
NM_030973.4(MED25):c.131T>G (p.Ile44Ser) rs376462101 0.00002
NM_030973.4(MED25):c.135-14T>C rs765934196 0.00002
NM_030973.4(MED25):c.1604A>G (p.Asn535Ser) rs1198078458 0.00002
NM_030973.4(MED25):c.1691C>T (p.Ala564Val) rs750211605 0.00002
NM_030973.4(MED25):c.180+17C>G rs770514045 0.00002
NM_030973.4(MED25):c.181-7C>T rs1640511 0.00002
NM_030973.4(MED25):c.1861C>T (p.Pro621Ser) rs543247926 0.00002
NM_030973.4(MED25):c.1891C>T (p.Pro631Ser) rs764083423 0.00002
NM_030973.4(MED25):c.1900A>G (p.Ile634Val) rs776084741 0.00002
NM_030973.4(MED25):c.1950C>T (p.Leu650=) rs749309483 0.00002
NM_030973.4(MED25):c.1973C>T (p.Thr658Ile) rs768469811 0.00002
NM_030973.4(MED25):c.2113C>A (p.Pro705Thr) rs367802464 0.00002
NM_030973.4(MED25):c.2163C>T (p.Ser721=) rs749606105 0.00002
NM_030973.4(MED25):c.315C>T (p.Gly105=) rs1441161522 0.00002
NM_030973.4(MED25):c.368A>C (p.Gln123Pro) rs750315392 0.00002
NM_030973.4(MED25):c.405-6T>C rs1053967709 0.00002
NM_030973.4(MED25):c.557G>A (p.Arg186Gln) rs1376475717 0.00002
NM_030973.4(MED25):c.569C>T (p.Ala190Val) rs780526739 0.00002
NM_030973.4(MED25):c.618G>A (p.Pro206=) rs772693264 0.00002
NM_030973.4(MED25):c.688+8C>T rs201112045 0.00002
NM_030973.4(MED25):c.697G>A (p.Gly233Ser) rs778397363 0.00002
NM_030973.4(MED25):c.747C>T (p.Pro249=) rs111621037 0.00002
NM_030973.4(MED25):c.748G>A (p.Ala250Thr) rs371817340 0.00002
NM_030973.4(MED25):c.769C>G (p.Leu257Val) rs1057519203 0.00002
NM_030973.4(MED25):c.81C>T (p.Asn27=) rs761471079 0.00002
NM_030973.4(MED25):c.846G>T (p.Gln282His) rs762885909 0.00002
NM_030973.4(MED25):c.852C>T (p.Ala284=) rs200117024 0.00002
NM_030973.4(MED25):c.943G>A (p.Gly315Arg) rs1483220422 0.00002
NM_030973.4(MED25):c.1003G>A (p.Ala335Thr) rs1018204701 0.00001
NM_030973.4(MED25):c.1006C>T (p.Pro336Ser) rs780177056 0.00001
NM_030973.4(MED25):c.1039G>C (p.Val347Leu) rs146715554 0.00001
NM_030973.4(MED25):c.1047T>C (p.Thr349=) rs1256377019 0.00001
NM_030973.4(MED25):c.1053C>G (p.Ala351=) rs760698791 0.00001
NM_030973.4(MED25):c.1080A>C (p.Ala360=) rs1378976996 0.00001
NM_030973.4(MED25):c.1086C>T (p.Pro362=) rs780086993 0.00001
NM_030973.4(MED25):c.1101+1G>A rs769486726 0.00001
NM_030973.4(MED25):c.1102-9C>T rs747438443 0.00001
NM_030973.4(MED25):c.1103C>A (p.Ala368Glu) rs769174134 0.00001
NM_030973.4(MED25):c.1103C>T (p.Ala368Val) rs769174134 0.00001
NM_030973.4(MED25):c.1108A>G (p.Thr370Ala) rs201553319 0.00001
NM_030973.4(MED25):c.112C>A (p.His38Asn) rs1191519479 0.00001
NM_030973.4(MED25):c.1143A>G (p.Pro381=) rs200571306 0.00001
NM_030973.4(MED25):c.1157C>T (p.Ala386Val) rs1427321438 0.00001
NM_030973.4(MED25):c.1170T>A (p.Gly390=) rs755612050 0.00001
NM_030973.4(MED25):c.117C>G (p.Tyr39Ter) rs749356375 0.00001
NM_030973.4(MED25):c.1190A>G (p.Asn397Ser) rs756897347 0.00001
NM_030973.4(MED25):c.1209C>T (p.Ser403=) rs954895925 0.00001
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg) rs1213960931 0.00001
NM_030973.4(MED25):c.1230+7G>T rs1412475364 0.00001
NM_030973.4(MED25):c.1271C>T (p.Thr424Met) rs2074060664 0.00001
NM_030973.4(MED25):c.1308C>T (p.Gly436=) rs750031901 0.00001
NM_030973.4(MED25):c.1322C>T (p.Thr441Met) rs754342751 0.00001
NM_030973.4(MED25):c.135-3C>T rs750459702 0.00001
NM_030973.4(MED25):c.135-4A>G rs765245928 0.00001
NM_030973.4(MED25):c.135-9C>T rs764466098 0.00001
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter) rs758524310 0.00001
NM_030973.4(MED25):c.1374+10G>A rs768381941 0.00001
NM_030973.4(MED25):c.1375-20G>A rs755187047 0.00001
NM_030973.4(MED25):c.1375-4G>A rs372057910 0.00001
NM_030973.4(MED25):c.1375-5C>T rs368189393 0.00001
NM_030973.4(MED25):c.1395C>A (p.Phe465Leu) rs143046644 0.00001
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp) rs759187460 0.00001
NM_030973.4(MED25):c.1437C>T (p.Asp479=) rs1484444238 0.00001
NM_030973.4(MED25):c.1442A>G (p.Glu481Gly) rs2074064696 0.00001
NM_030973.4(MED25):c.1455C>T (p.Gly485=) rs765634152 0.00001
NM_030973.4(MED25):c.145G>T (p.Gly49Cys) rs780112917 0.00001
NM_030973.4(MED25):c.1476C>T (p.Asn492=) rs750836603 0.00001
NM_030973.4(MED25):c.1511C>T (p.Ala504Val) rs1479368676 0.00001
NM_030973.4(MED25):c.1525C>T (p.Arg509Cys) rs1418129935 0.00001
NM_030973.4(MED25):c.1527C>T (p.Arg509=) rs756350936 0.00001
NM_030973.4(MED25):c.1584C>T (p.Tyr528=) rs776192919 0.00001
NM_030973.4(MED25):c.1675-18C>T rs2074089100 0.00001
NM_030973.4(MED25):c.1675-4G>A rs1202670954 0.00001
NM_030973.4(MED25):c.1678G>C (p.Gly560Arg) rs866498468 0.00001
NM_030973.4(MED25):c.16G>C (p.Glu6Gln) rs755457665 0.00001
NM_030973.4(MED25):c.1746+10G>A rs777447509 0.00001
NM_030973.4(MED25):c.1747-15G>C rs1253524565 0.00001
NM_030973.4(MED25):c.1757G>A (p.Arg586His) rs1184393042 0.00001
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs) rs763039409 0.00001
NM_030973.4(MED25):c.1824A>G (p.Gln608=) rs756851712 0.00001
NM_030973.4(MED25):c.1888C>A (p.Pro630Thr) rs900142190 0.00001
NM_030973.4(MED25):c.1899C>T (p.Pro633=) rs1225715903 0.00001
NM_030973.4(MED25):c.189G>T (p.Gly63=) rs770307133 0.00001
NM_030973.4(MED25):c.1959A>G (p.Pro653=) rs757384751 0.00001
NM_030973.4(MED25):c.1968G>A (p.Pro656=) rs370950491 0.00001
NM_030973.4(MED25):c.1971G>A (p.Gln657=) rs746754098 0.00001
NM_030973.4(MED25):c.2023G>A (p.Ala675Thr) rs1448159136 0.00001
NM_030973.4(MED25):c.2042C>T (p.Pro681Leu) rs974538844 0.00001
NM_030973.4(MED25):c.2043G>A (p.Pro681=) rs762374581 0.00001
NM_030973.4(MED25):c.2115C>T (p.Pro705=) rs542955462 0.00001
NM_030973.4(MED25):c.2116G>A (p.Ala706Thr) rs762953015 0.00001
NM_030973.4(MED25):c.213C>T (p.Phe71=) rs745454610 0.00001
NM_030973.4(MED25):c.2168G>A (p.Gly723Asp) rs2074102870 0.00001
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) rs765135124 0.00001
NM_030973.4(MED25):c.2226C>T (p.Ile742=) rs921978271 0.00001
NM_030973.4(MED25):c.235G>A (p.Glu79Lys) rs1359745073 0.00001
NM_030973.4(MED25):c.23C>T (p.Pro8Leu) rs980805046 0.00001
NM_030973.4(MED25):c.255C>T (p.His85=) rs1009581878 0.00001
NM_030973.4(MED25):c.275A>T (p.Tyr92Phe) rs549136898 0.00001
NM_030973.4(MED25):c.292C>T (p.Leu98Phe) rs753652217 0.00001
NM_030973.4(MED25):c.295G>A (p.Asp99Asn) rs778775959 0.00001
NM_030973.4(MED25):c.29G>T (p.Arg10Leu) rs545524810 0.00001
NM_030973.4(MED25):c.316G>A (p.Gly106Arg) rs147136530 0.00001
NM_030973.4(MED25):c.339C>T (p.Leu113=) rs772212895 0.00001
NM_030973.4(MED25):c.344C>T (p.Ala115Val) rs764375282 0.00001
NM_030973.4(MED25):c.384C>T (p.Phe128=) rs1204577575 0.00001
NM_030973.4(MED25):c.407G>A (p.Gly136Asp) rs1391030807 0.00001
NM_030973.4(MED25):c.413C>T (p.Thr138Met) rs200785685 0.00001
NM_030973.4(MED25):c.432C>A (p.Leu144=) rs150534771 0.00001
NM_030973.4(MED25):c.447C>T (p.Pro149=) rs543246660 0.00001
NM_030973.4(MED25):c.456G>A (p.Leu152=) rs1457594431 0.00001
NM_030973.4(MED25):c.480G>A (p.Thr160=) rs753591952 0.00001
NM_030973.4(MED25):c.502A>T (p.Asn168Tyr) rs1189793403 0.00001
NM_030973.4(MED25):c.508G>A (p.Val170Met) rs561534872 0.00001
NM_030973.4(MED25):c.525+6G>A rs1012023208 0.00001
NM_030973.4(MED25):c.526-16G>A rs756139455 0.00001
NM_030973.4(MED25):c.526-4A>G rs1302269788 0.00001
NM_030973.4(MED25):c.556C>T (p.Arg186Trp) rs776291104 0.00001
NM_030973.4(MED25):c.574C>T (p.Arg192Trp) rs201157765 0.00001
NM_030973.4(MED25):c.617C>T (p.Pro206Leu) rs368059409 0.00001
NM_030973.4(MED25):c.651G>A (p.Pro217=) rs532875863 0.00001
NM_030973.4(MED25):c.688+20C>T rs763013887 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_030973.4(MED25):c.801C>T (p.Pro267=) rs779737748 0.00001
NM_030973.4(MED25):c.820-14C>G rs1252422114 0.00001
NM_030973.4(MED25):c.908-17C>T rs778037401 0.00001
NM_030973.4(MED25):c.911C>T (p.Ser304Leu) rs546822136 0.00001
NM_030973.4(MED25):c.912G>A (p.Ser304=) rs1407395842 0.00001
NM_030973.4(MED25):c.931C>G (p.Gln311Glu) rs2074049438 0.00001
NM_030973.4(MED25):c.954C>T (p.Pro318=) rs554447029 0.00001
NM_030973.4(MED25):c.9C>T (p.Pro3=) rs1362017240 0.00001
NC_000019.10:g.(?_49828429)_(49829110_?)del
NC_000019.9:g.(?_50332011)_(50333471_?)del
NM_030973.4(MED25):c.1014A>G (p.Pro338=) rs1034116832
NM_030973.4(MED25):c.1025C>T (p.Ser342Phe) rs1600325791
NM_030973.4(MED25):c.1026C>G (p.Ser342=) rs1600325797
NM_030973.4(MED25):c.102G>A (p.Gly34=) rs755369870
NM_030973.4(MED25):c.102G>T (p.Gly34=) rs755369870
NM_030973.4(MED25):c.102del (p.Leu35fs) rs2073953986
NM_030973.4(MED25):c.1038G>A (p.Leu346=)
NM_030973.4(MED25):c.1041C>T (p.Val347=) rs1555802298
NM_030973.4(MED25):c.1048G>A (p.Val350Met)
NM_030973.4(MED25):c.105C>G (p.Leu35=)
NM_030973.4(MED25):c.105C>T (p.Leu35=)
NM_030973.4(MED25):c.1060T>C (p.Ser354Pro) rs2123880302
NM_030973.4(MED25):c.1065C>A (p.Gly355=) rs779070350
NM_030973.4(MED25):c.1068G>A (p.Leu356=) rs2074050942
NM_030973.4(MED25):c.1077G>A (p.Thr359=)
NM_030973.4(MED25):c.1078G>A (p.Ala360Thr)
NM_030973.4(MED25):c.1079C>G (p.Ala360Gly) rs2123880339
NM_030973.4(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.4(MED25):c.107G>T (p.Arg36Leu) rs1555800954
NM_030973.4(MED25):c.1097C>G (p.Ser366Cys)
NM_030973.4(MED25):c.1101+14C>T
NM_030973.4(MED25):c.1101+15G>A
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.1101+8C>T
NM_030973.4(MED25):c.1102-13T>G
NM_030973.4(MED25):c.1102-14C>T rs748971798
NM_030973.4(MED25):c.1102-4G>T
NM_030973.4(MED25):c.1107C>T (p.Gly369=) rs1450112631
NM_030973.4(MED25):c.1116C>G (p.Ala372=)
NM_030973.4(MED25):c.1128G>A (p.Val376=)
NM_030973.4(MED25):c.112C>T (p.His38Tyr)
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
NM_030973.4(MED25):c.1133G>A (p.Gly378Asp) rs1600326536
NM_030973.4(MED25):c.1148_1165del (p.Gln383_Ala388del) rs765219800
NM_030973.4(MED25):c.1148_1165dup (p.Gln383_Ala388dup) rs765219800
NM_030973.4(MED25):c.114C>T (p.His38=) rs2073954243
NM_030973.4(MED25):c.1150C>G (p.Leu384Val) rs1248219304
NM_030973.4(MED25):c.1160C>G (p.Pro387Arg) rs1433808506
NM_030973.4(MED25):c.1176G>A (p.Gln392=)
NM_030973.4(MED25):c.1179G>C (p.Gln393His) rs951202638
NM_030973.4(MED25):c.1188C>T (p.Ser396=)
NM_030973.4(MED25):c.1198C>T (p.Leu400=) rs778576788
NM_030973.4(MED25):c.1201G>A (p.Ala401Thr) rs1219247533
NM_030973.4(MED25):c.1202C>T (p.Ala401Val) rs868663771
NM_030973.4(MED25):c.1203C>T (p.Ala401=) rs1322031888
NM_030973.4(MED25):c.1230+11dup
NM_030973.4(MED25):c.1230+12G>C
NM_030973.4(MED25):c.1230+20A>G
NM_030973.4(MED25):c.1230+5G>C rs2074057180
NM_030973.4(MED25):c.1230+6G>A rs2074057196
NM_030973.4(MED25):c.1230+7G>A
NM_030973.4(MED25):c.1231-16C>T
NM_030973.4(MED25):c.1231-20T>G
NM_030973.4(MED25):c.1231-3C>T
NM_030973.4(MED25):c.1231-5dup rs778157941
NM_030973.4(MED25):c.123C>G (p.Leu41=)
NM_030973.4(MED25):c.123C>T (p.Leu41=)
NM_030973.4(MED25):c.1243G>A (p.Ala415Thr) rs771844561
NM_030973.4(MED25):c.1244C>T (p.Ala415Val) rs775141134
NM_030973.4(MED25):c.124C>T (p.Pro42Ser) rs199588409
NM_030973.4(MED25):c.1250T>C (p.Val417Ala) rs2123882109
NM_030973.4(MED25):c.1263C>G (p.Thr421=)
NM_030973.4(MED25):c.1272G>A (p.Thr424=)
NM_030973.4(MED25):c.1275G>A (p.Arg425=)
NM_030973.4(MED25):c.1288C>G (p.Gln430Glu) rs2074060785
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
NM_030973.4(MED25):c.1304A>G (p.His435Arg)
NM_030973.4(MED25):c.1323G>A (p.Thr441=)
NM_030973.4(MED25):c.134+14C>T
NM_030973.4(MED25):c.134+15C>T
NM_030973.4(MED25):c.134+17C>T
NM_030973.4(MED25):c.134+8C>T rs2123860485
NM_030973.4(MED25):c.135-11T>C
NM_030973.4(MED25):c.135-12C>G
NM_030973.4(MED25):c.135-12C>T
NM_030973.4(MED25):c.135-15T>C
NM_030973.4(MED25):c.135-15T>G rs1256237742
NM_030973.4(MED25):c.135-17A>G
NM_030973.4(MED25):c.135-5C>T rs758925407
NM_030973.4(MED25):c.1350G>A (p.Met450Ile) rs1568623987
NM_030973.4(MED25):c.1359C>T (p.Ile453=)
NM_030973.4(MED25):c.1363C>A (p.Gln455Lys)
NM_030973.4(MED25):c.1369C>T (p.Leu457=) rs566536708
NM_030973.4(MED25):c.1374+18G>A
NM_030973.4(MED25):c.1374G>A (p.Leu458=) rs2074062447
NM_030973.4(MED25):c.1375-10T>A
NM_030973.4(MED25):c.1375-15C>T
NM_030973.4(MED25):c.1375-16T>C
NM_030973.4(MED25):c.1375-5dup
NM_030973.4(MED25):c.1375-7C>T rs2123882866
NM_030973.4(MED25):c.1377C>A (p.Thr459=)
NM_030973.4(MED25):c.138T>C (p.Tyr46=) rs758573961
NM_030973.4(MED25):c.1391del (p.Leu464fs)
NM_030973.4(MED25):c.1395C>T (p.Phe465=)
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del) rs2073952891
NM_030973.4(MED25):c.140_144del (p.Phe47fs) rs2123860743
NM_030973.4(MED25):c.1410G>A (p.Met470Ile)
NM_030973.4(MED25):c.1416G>A (p.Gln472=)
NM_030973.4(MED25):c.1430A>G (p.Asn477Ser) rs2074064545
NM_030973.4(MED25):c.1438del (p.Leu480fs) rs2123882986
NM_030973.4(MED25):c.145G>C (p.Gly49Arg)
NM_030973.4(MED25):c.1482+12G>A
NM_030973.4(MED25):c.1482+14A>G
NM_030973.4(MED25):c.1482+16G>A
NM_030973.4(MED25):c.1482+21dup
NM_030973.4(MED25):c.1482+9A>G rs2123883050
NM_030973.4(MED25):c.1483-13G>A rs886054581
NM_030973.4(MED25):c.1483-5C>G
NM_030973.4(MED25):c.1491C>T (p.Cys497=)
NM_030973.4(MED25):c.1497C>T (p.His499=) rs2074084856
NM_030973.4(MED25):c.1501C>T (p.Pro501Ser) rs2074084894
NM_030973.4(MED25):c.1504del (p.His502fs) rs2123886765
NM_030973.4(MED25):c.1512G>A (p.Ala504=)
NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer) rs775019484
NM_030973.4(MED25):c.1521G>A (p.Glu507=)
NM_030973.4(MED25):c.1526G>A (p.Arg509His) rs1156431468
NM_030973.4(MED25):c.1527C>G (p.Arg509=)
NM_030973.4(MED25):c.1548G>A (p.Ser516=)
NM_030973.4(MED25):c.1548G>C (p.Ser516=) rs370402922
NM_030973.4(MED25):c.1559A>T (p.Lys520Met) rs2074085416
NM_030973.4(MED25):c.1566_1569del (p.Phe522fs) rs2074085486
NM_030973.4(MED25):c.1567A>T (p.Met523Leu) rs1568625142
NM_030973.4(MED25):c.1590_1603del (p.Ser531fs) rs1239980123
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) rs964471885
NM_030973.4(MED25):c.1599C>T (p.Phe533=)
NM_030973.4(MED25):c.15C>T (p.Ser5=) rs1568617655
NM_030973.4(MED25):c.1602C>T (p.Val534=)
NM_030973.4(MED25):c.1615C>G (p.Gln539Glu)
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs) rs770792425
NM_030973.4(MED25):c.1643A>C (p.Gln548Pro) rs2074086161
NM_030973.4(MED25):c.1643A>G (p.Gln548Arg) rs2074086161
NM_030973.4(MED25):c.1655_1663del (p.Leu552_Gln554del) rs2123887022
NM_030973.4(MED25):c.1674+17C>T
NM_030973.4(MED25):c.1674+19C>G rs752522
NM_030973.4(MED25):c.1674+19C>T rs752522
NM_030973.4(MED25):c.1674+8T>A
NM_030973.4(MED25):c.1677G>A (p.Met559Ile) rs369006637
NM_030973.4(MED25):c.1677G>T (p.Met559Ile) rs369006637
NM_030973.4(MED25):c.1679G>C (p.Gly560Ala)
NM_030973.4(MED25):c.1680_1682del (p.Gly561del)
NM_030973.4(MED25):c.1682G>T (p.Gly561Val) rs1474701596
NM_030973.4(MED25):c.1686G>A (p.Gln562=)
NM_030973.4(MED25):c.1692A>T (p.Ala564=)
NM_030973.4(MED25):c.1693C>T (p.Pro565Ser)
NM_030973.4(MED25):c.1696_1697del (p.Pro566fs) rs2074089681
NM_030973.4(MED25):c.1702C>T (p.Leu568=)
NM_030973.4(MED25):c.1703T>C (p.Leu568Pro) rs2123887728
NM_030973.4(MED25):c.1704G>A (p.Leu568=) rs1222662917
NM_030973.4(MED25):c.170T>C (p.Phe57Ser) rs2073956256
NM_030973.4(MED25):c.170T>G (p.Phe57Cys)
NM_030973.4(MED25):c.1722C>T (p.Asp574=)
NM_030973.4(MED25):c.1727C>T (p.Ala576Val) rs193291405
NM_030973.4(MED25):c.1730G>A (p.Arg577Lys)
NM_030973.4(MED25):c.1731G>A (p.Arg577=)
NM_030973.4(MED25):c.1734C>T (p.Pro578=) rs2074090173
NM_030973.4(MED25):c.1746+18G>A
NM_030973.4(MED25):c.1746+20G>A rs2123887846
NM_030973.4(MED25):c.1746+9A>G rs1600330946
NM_030973.4(MED25):c.1747-14dup
NM_030973.4(MED25):c.1747-18T>C rs759379519
NM_030973.4(MED25):c.1747-18del
NM_030973.4(MED25):c.1747-20C>T
NM_030973.4(MED25):c.1749C>A (p.Leu583=)
NM_030973.4(MED25):c.174G>A (p.Gly58=) rs773338897
NM_030973.4(MED25):c.1753C>T (p.Leu585Phe)
NM_030973.4(MED25):c.1755C>G (p.Leu585=) rs1004381819
NM_030973.4(MED25):c.1761A>T (p.Pro587=) rs1568625500
NM_030973.4(MED25):c.1763C>T (p.Pro588Leu)
NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser)
NM_030973.4(MED25):c.1771C>G (p.Gln591Glu) rs1600331179
NM_030973.4(MED25):c.1775C>T (p.Pro592Leu)
NM_030973.4(MED25):c.1788A>G (p.Val596=)
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del) rs764613506
NM_030973.4(MED25):c.1795_1803dup (p.Ser599_Ala601dup) rs764613506
NM_030973.4(MED25):c.1799G>A (p.Gly600Glu) rs1188355950
NM_030973.4(MED25):c.1801del (p.Ala601fs)
NM_030973.4(MED25):c.1805C>T (p.Thr602Met)
NM_030973.4(MED25):c.1806G>A (p.Thr602=)
NM_030973.4(MED25):c.181-14T>C
NM_030973.4(MED25):c.181-17C>G
NM_030973.4(MED25):c.181-20T>C
NM_030973.4(MED25):c.181-4C>T rs2123862076
NM_030973.4(MED25):c.181-8C>T
NM_030973.4(MED25):c.181-9C>T
NM_030973.4(MED25):c.1812GCCCCA[3] (p.605PQ[3]) rs2074092563
NM_030973.4(MED25):c.1830T>G (p.Thr610=)
NM_030973.4(MED25):c.1831G>A (p.Ala611Thr) rs2074092949
NM_030973.4(MED25):c.1833C>G (p.Ala611=)
NM_030973.4(MED25):c.1842G>A (p.Pro614=)
NM_030973.4(MED25):c.1842G>C (p.Pro614=) rs368884119
NM_030973.4(MED25):c.1852C>T (p.Pro618Ser) rs777988894
NM_030973.4(MED25):c.1853C>T (p.Pro618Leu) rs1600331387
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys) rs769034498
NM_030973.4(MED25):c.1857A>G (p.Gln619=)
NM_030973.4(MED25):c.1859G>T (p.Gly620Val)
NM_030973.4(MED25):c.186G>C (p.Gly62=)
NM_030973.4(MED25):c.1875T>A (p.Ala625=)
NM_030973.4(MED25):c.1885C>T (p.Pro629Ser) rs1368000406
NM_030973.4(MED25):c.1888C>G (p.Pro630Ala) rs900142190
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu) rs775342932
NM_030973.4(MED25):c.189G>A (p.Gly63=)
NM_030973.4(MED25):c.189dup (p.Thr64fs)
NM_030973.4(MED25):c.1902C>T (p.Ile634=)
NM_030973.4(MED25):c.1910C>T (p.Pro637Leu) rs764747321
NM_030973.4(MED25):c.1911C>T (p.Pro637=)
NM_030973.4(MED25):c.1912C>T (p.Gln638Ter)
NM_030973.4(MED25):c.1915A>G (p.Asn639Asp) rs776959726
NM_030973.4(MED25):c.1919del (p.Pro640fs) rs1223073957
NM_030973.4(MED25):c.1920T>C (p.Pro640=) rs1600331507
NM_030973.4(MED25):c.192C>A (p.Thr64=)
NM_030973.4(MED25):c.1951C>T (p.Leu651Phe) rs2123888587
NM_030973.4(MED25):c.1952T>G (p.Leu651Arg) rs878855132
NM_030973.4(MED25):c.1953C>T (p.Leu651=) rs2123888595
NM_030973.4(MED25):c.1955A>G (p.Asn652Ser) rs1051416581
NM_030973.4(MED25):c.1965+14G>T
NM_030973.4(MED25):c.1965+16G>C rs1005068403
NM_030973.4(MED25):c.1965+16G>T
NM_030973.4(MED25):c.1966-10_1966-9del rs778581967
NM_030973.4(MED25):c.1966-15T>C
NM_030973.4(MED25):c.1966-18CT[2]
NM_030973.4(MED25):c.1966-5C>G
NM_030973.4(MED25):c.1967C>T (p.Pro656Leu)
NM_030973.4(MED25):c.1972A>C (p.Thr658Pro) rs1030696258
NM_030973.4(MED25):c.1976G>T (p.Gly659Val)
NM_030973.4(MED25):c.1981C>G (p.Pro661Ala) rs748129176
NM_030973.4(MED25):c.1983C>T (p.Pro661=)
NM_030973.4(MED25):c.2026C>A (p.Pro676Thr) rs1263091655
NM_030973.4(MED25):c.2028_2030del (p.Ala677del) rs1600331974
NM_030973.4(MED25):c.2037G>A (p.Leu679=) rs2074097615
NM_030973.4(MED25):c.2055C>T (p.Gly685=)
NM_030973.4(MED25):c.2060G>A (p.Gly687Glu)
NM_030973.4(MED25):c.2061G>A (p.Gly687=) rs751782742
NM_030973.4(MED25):c.2065C>T (p.Pro689Ser) rs1352294152
NM_030973.4(MED25):c.2068_2069del (p.Gln690fs) rs2074097900
NM_030973.4(MED25):c.2070G>C (p.Gln690His)
NM_030973.4(MED25):c.2082A>G (p.Pro694=)
NM_030973.4(MED25):c.2085C>T (p.Leu695=) rs1600332106
NM_030973.4(MED25):c.2095C>G (p.Pro699Ala) rs770600111
NM_030973.4(MED25):c.2099del (p.Pro700fs)
NM_030973.4(MED25):c.20G>T (p.Gly7Val) rs2123860220
NM_030973.4(MED25):c.2109C>T (p.Ser703=)
NM_030973.4(MED25):c.210G>A (p.Val70=)
NM_030973.4(MED25):c.2121A>G (p.Gln707=)
NM_030973.4(MED25):c.2130T>A (p.Pro710=) rs1600332188
NM_030973.4(MED25):c.2132G>A (p.Arg711Gln)
NM_030973.4(MED25):c.2137C>T (p.Pro713Ser)
NM_030973.4(MED25):c.2144dup (p.Gly716fs) rs1568625990
NM_030973.4(MED25):c.2146+13G>A
NM_030973.4(MED25):c.2146+19G>T rs568964675
NM_030973.4(MED25):c.2146+8G>A
NM_030973.4(MED25):c.2146+8del
NM_030973.4(MED25):c.2146+9A>C
NM_030973.4(MED25):c.2147-13C>T
NM_030973.4(MED25):c.2147-19C>T
NM_030973.4(MED25):c.2147-3C>T rs1555803003
NM_030973.4(MED25):c.2147G>A (p.Gly716Asp) rs2074102680
NM_030973.4(MED25):c.2160G>A (p.Leu720=)
NM_030973.4(MED25):c.2181G>C (p.Pro727=)
NM_030973.4(MED25):c.2181G>T (p.Pro727=) rs775431728
NM_030973.4(MED25):c.2185C>T (p.Pro729Ser) rs536619167
NM_030973.4(MED25):c.2191C>T (p.Pro731Ser) rs1236215092
NM_030973.4(MED25):c.2199G>T (p.Leu733=)
NM_030973.4(MED25):c.2200C>T (p.Gln734Ter) rs1600332988
NM_030973.4(MED25):c.2220C>T (p.Asp740=)
NM_030973.4(MED25):c.2235T>C (p.Asp745=)
NM_030973.4(MED25):c.2239A>C (p.Ile747Leu) rs2074103858
NM_030973.4(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.4(MED25):c.229G>C (p.Ala77Pro) rs1290551836
NM_030973.4(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.4(MED25):c.234C>T (p.Pro78=) rs74863643
NM_030973.4(MED25):c.243C>T (p.Tyr81=) rs2123862187
NM_030973.4(MED25):c.248A>G (p.Gln83Arg) rs2073964192
NM_030973.4(MED25):c.259C>G (p.Pro87Ala)
NM_030973.4(MED25):c.273C>T (p.Ala91=) rs1600313252
NM_030973.4(MED25):c.282dup (p.Val95fs) rs1568618345
NM_030973.4(MED25):c.283G>A (p.Val95Ile) rs1475262890
NM_030973.4(MED25):c.287C>G (p.Thr96Ser) rs2123862294
NM_030973.4(MED25):c.288C>G (p.Thr96=) rs2123862300
NM_030973.4(MED25):c.28C>T (p.Arg10Cys)
NM_030973.4(MED25):c.294C>G (p.Leu98=) rs140379422
NM_030973.4(MED25):c.294C>T (p.Leu98=) rs140379422
NM_030973.4(MED25):c.305+14C>G rs773627830
NM_030973.4(MED25):c.305+14C>T
NM_030973.4(MED25):c.305+15A>G rs2123862362
NM_030973.4(MED25):c.305+7T>C
NM_030973.4(MED25):c.306-15G>A
NM_030973.4(MED25):c.306-16C>A
NM_030973.4(MED25):c.306-16C>T
NM_030973.4(MED25):c.306-6C>T
NM_030973.4(MED25):c.311T>C (p.Met104Thr)
NM_030973.4(MED25):c.316G>C (p.Gly106Arg)
NM_030973.4(MED25):c.320G>C (p.Gly107Ala) rs1448711945
NM_030973.4(MED25):c.320del (p.Gly107fs) rs776360611
NM_030973.4(MED25):c.322G>A (p.Gly108Ser) rs2074030164
NM_030973.4(MED25):c.330C>A (p.Ser110Arg) rs898525772
NM_030973.4(MED25):c.340A>G (p.Ile114Val)
NM_030973.4(MED25):c.342C>A (p.Ile114=)
NM_030973.4(MED25):c.343G>A (p.Ala115Thr) rs1433714797
NM_030973.4(MED25):c.345G>A (p.Ala115=)
NM_030973.4(MED25):c.357C>T (p.Ser119=)
NM_030973.4(MED25):c.367C>A (p.Gln123Lys) rs764968113
NM_030973.4(MED25):c.36G>C (p.Gly12=)
NM_030973.4(MED25):c.372G>C (p.Leu124=) rs765814691
NM_030973.4(MED25):c.377A>T (p.Asp126Val) rs751058652
NM_030973.4(MED25):c.389A>G (p.Lys130Arg)
NM_030973.4(MED25):c.393_394delinsCT (p.Met131_Arg132delinsIleCys) rs1555801968
NM_030973.4(MED25):c.397G>A (p.Glu133Lys)
NM_030973.4(MED25):c.404+12dup
NM_030973.4(MED25):c.404+4A>C
NM_030973.4(MED25):c.405-12C>T
NM_030973.4(MED25):c.405-16C>A
NM_030973.4(MED25):c.405-18T>C
NM_030973.4(MED25):c.405-20T>A
NM_030973.4(MED25):c.405-4G>A
NM_030973.4(MED25):c.405-5G>C
NM_030973.4(MED25):c.405-8C>A
NM_030973.4(MED25):c.405T>C (p.Ile135=) rs2123876614
NM_030973.4(MED25):c.406G>A (p.Gly136Ser)
NM_030973.4(MED25):c.414G>A (p.Thr138=) rs1333998604
NM_030973.4(MED25):c.414G>C (p.Thr138=) rs1333998604
NM_030973.4(MED25):c.419G>A (p.Arg140Gln) rs748347831
NM_030973.4(MED25):c.421G>C (p.Val141Leu) rs1398290748
NM_030973.4(MED25):c.432C>T (p.Leu144=) rs150534771
NM_030973.4(MED25):c.438C>T (p.Cys146=)
NM_030973.4(MED25):c.439A>C (p.Asn147His) rs2074034296
NM_030973.4(MED25):c.440A>C (p.Asn147Thr) rs575908777
NM_030973.4(MED25):c.440A>G (p.Asn147Ser)
NM_030973.4(MED25):c.449del (p.Pro150fs) rs1600323331
NM_030973.4(MED25):c.459G>T (p.Leu153Phe) rs1461710400
NM_030973.4(MED25):c.475A>G (p.Thr159Ala)
NM_030973.4(MED25):c.48C>T (p.Ala16=)
NM_030973.4(MED25):c.506T>C (p.Leu169Pro) rs2123876804
NM_030973.4(MED25):c.518T>C (p.Ile173Thr) rs781753774
NM_030973.4(MED25):c.520G>A (p.Gly174Arg)
NM_030973.4(MED25):c.525+11C>T
NM_030973.4(MED25):c.525+12A>G
NM_030973.4(MED25):c.525+20_525+34del rs766617168
NM_030973.4(MED25):c.525G>A (p.Glu175=) rs2074035059
NM_030973.4(MED25):c.526-11C>T
NM_030973.4(MED25):c.526-13C>T
NM_030973.4(MED25):c.526-17C>T
NM_030973.4(MED25):c.526-3C>T
NM_030973.4(MED25):c.527G>A (p.Arg176Gln) rs1364981975
NM_030973.4(MED25):c.544A>G (p.Ile182Val) rs1568622523
NM_030973.4(MED25):c.547G>A (p.Val183Met) rs1555802134
NM_030973.4(MED25):c.558G>A (p.Arg186=) rs761471297
NM_030973.4(MED25):c.575G>A (p.Arg192Gln)
NM_030973.4(MED25):c.588G>A (p.Glu196=)
NM_030973.4(MED25):c.58T>A (p.Phe20Ile)
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020
NM_030973.4(MED25):c.597C>G (p.Ala199=) rs149788020
NM_030973.4(MED25):c.597C>T (p.Ala199=) rs149788020
NM_030973.4(MED25):c.600C>A (p.Pro200=)
NM_030973.4(MED25):c.600C>G (p.Pro200=) rs753910880
NM_030973.4(MED25):c.601C>A (p.Pro201Thr)
NM_030973.4(MED25):c.601C>G (p.Pro201Ala) rs149611039
NM_030973.4(MED25):c.602del (p.Pro201fs) rs748546983
NM_030973.4(MED25):c.602dup (p.Ala202fs) rs748546983
NM_030973.4(MED25):c.603G>A (p.Pro201=)
NM_030973.4(MED25):c.603G>C (p.Pro201=) rs546857153
NM_030973.4(MED25):c.610C>T (p.Leu204=) rs2123878440
NM_030973.4(MED25):c.61G>A (p.Val21Met) rs2073953656
NM_030973.4(MED25):c.630G>A (p.Pro210=)
NM_030973.4(MED25):c.633A>G (p.Thr211=) rs369117035
NM_030973.4(MED25):c.633A>T (p.Thr211=) rs369117035
NM_030973.4(MED25):c.650C>T (p.Pro217Leu)
NM_030973.4(MED25):c.658A>T (p.Met220Leu) rs905166588
NM_030973.4(MED25):c.688+14A>G
NM_030973.4(MED25):c.689-18C>T
NM_030973.4(MED25):c.689-5C>T
NM_030973.4(MED25):c.693_695del (p.Gly233del)
NM_030973.4(MED25):c.6C>T (p.Val2=)
NM_030973.4(MED25):c.703G>A (p.Ala235Thr) rs2074043556
NM_030973.4(MED25):c.705C>G (p.Ala235=)
NM_030973.4(MED25):c.735C>G (p.Val245=) rs774587834
NM_030973.4(MED25):c.739C>T (p.Leu247=)
NM_030973.4(MED25):c.740del (p.Leu247fs) rs2074044055
NM_030973.4(MED25):c.743C>T (p.Pro248Leu)
NM_030973.4(MED25):c.750C>G (p.Ala250=) rs1397405011
NM_030973.4(MED25):c.750C>T (p.Ala250=)
NM_030973.4(MED25):c.755C>T (p.Pro252Leu) rs2074044376
NM_030973.4(MED25):c.761G>A (p.Gly254Asp) rs2074044441
NM_030973.4(MED25):c.769C>T (p.Leu257Phe)
NM_030973.4(MED25):c.773C>T (p.Ser258Leu) rs950408993
NM_030973.4(MED25):c.774A>G (p.Ser258=)
NM_030973.4(MED25):c.784C>T (p.Gln262Ter) rs2074044739
NM_030973.4(MED25):c.787C>A (p.Gln263Lys)
NM_030973.4(MED25):c.787C>T (p.Gln263Ter) rs765215168
NM_030973.4(MED25):c.78C>T (p.Ala26=)
NM_030973.4(MED25):c.794T>C (p.Leu265Pro)
NM_030973.4(MED25):c.801dup (p.Val268fs) rs775072432
NM_030973.4(MED25):c.804C>T (p.Val268=)
NM_030973.4(MED25):c.809C>A (p.Pro270Gln)
NM_030973.4(MED25):c.809C>T (p.Pro270Leu) rs756463606
NM_030973.4(MED25):c.819+19A>G
NM_030973.4(MED25):c.819+7A>G
NM_030973.4(MED25):c.819+9A>G
NM_030973.4(MED25):c.820-10C>T
NM_030973.4(MED25):c.820-11T>G
NM_030973.4(MED25):c.820-12T>C
NM_030973.4(MED25):c.820-16_820-9del
NM_030973.4(MED25):c.820-4A>G rs2074047442
NM_030973.4(MED25):c.820-5C>T
NM_030973.4(MED25):c.820-5del
NM_030973.4(MED25):c.825C>G (p.Pro275=) rs771874021
NM_030973.4(MED25):c.836G>A (p.Ser279Asn)
NM_030973.4(MED25):c.853G>A (p.Ala285Thr) rs1318288681
NM_030973.4(MED25):c.854C>A (p.Ala285Glu) rs191366132
NM_030973.4(MED25):c.867G>A (p.Val289=) rs202119489
NM_030973.4(MED25):c.87A>G (p.Gly29=)
NM_030973.4(MED25):c.888G>A (p.Lys296=) rs2123879803
NM_030973.4(MED25):c.891T>C (p.Ala297=)
NM_030973.4(MED25):c.895C>T (p.Leu299=)
NM_030973.4(MED25):c.897G>A (p.Leu299=) rs1394654443
NM_030973.4(MED25):c.903T>G (p.Pro301=)
NM_030973.4(MED25):c.906C>A (p.Arg302=) rs1182901692
NM_030973.4(MED25):c.906C>G (p.Arg302=) rs1182901692
NM_030973.4(MED25):c.906C>T (p.Arg302=) rs1182901692
NM_030973.4(MED25):c.908-3_908-2del rs766739944
NM_030973.4(MED25):c.908-6C>A
NM_030973.4(MED25):c.915C>A (p.Pro305=)
NM_030973.4(MED25):c.918C>G (p.Ile306Met) rs1447845181
NM_030973.4(MED25):c.924del (p.Leu309fs) rs2074049374
NM_030973.4(MED25):c.930A>T (p.Gln310His) rs2074049426
NM_030973.4(MED25):c.939T>A (p.Ala313=)
NM_030973.4(MED25):c.945A>C (p.Gly315=) rs2123880035
NM_030973.4(MED25):c.947T>G (p.Val316Gly)
NM_030973.4(MED25):c.955C>T (p.Pro319Ser) rs886357105
NM_030973.4(MED25):c.956C>T (p.Pro319Leu) rs139822988
NM_030973.4(MED25):c.959T>G (p.Phe320Cys) rs2074049850
NM_030973.4(MED25):c.962G>C (p.Ser321Thr) rs377259236
NM_030973.4(MED25):c.965A>G (p.Gln322Arg)
NM_030973.4(MED25):c.969C>T (p.Ala323=)
NM_030973.4(MED25):c.973G>C (p.Ala325Pro)
NM_030973.4(MED25):c.98A>G (p.Glu33Gly)

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