ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance for intellectual disability, autosomal dominant 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 607
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr) rs370340010 0.00009
NM_001378120.1(MBD5):c.935A>T (p.Lys312Ile) rs146031838 0.00009
NM_001378120.1(MBD5):c.1564C>T (p.Pro522Ser) rs1161083244 0.00008
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) rs114359726 0.00007
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu) rs768570356 0.00006
NM_001378120.1(MBD5):c.370G>C (p.Val124Leu) rs751595371 0.00005
NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val) rs572436251 0.00005
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) rs771672174 0.00004
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp) rs748328427 0.00004
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn) rs398124344 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4732G>A (p.Val1578Ile) rs376249586 0.00004
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala) rs959566693 0.00003
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile) rs748835022 0.00003
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro) rs775791197 0.00003
NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr) rs367876435 0.00003
NM_001378120.1(MBD5):c.2101A>G (p.Met701Val) rs398124343 0.00003
NM_001378120.1(MBD5):c.2122A>G (p.Met708Val) rs796052721 0.00003
NM_001378120.1(MBD5):c.2165G>A (p.Gly722Asp) rs1276079664 0.00003
NM_001378120.1(MBD5):c.2371G>A (p.Gly791Arg) rs769480362 0.00003
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg) rs184415910 0.00003
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr) rs769330358 0.00003
NM_001378120.1(MBD5):c.2621C>A (p.Ala874Glu) rs907317201 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val) rs773522192 0.00003
NM_001378120.1(MBD5):c.4586G>A (p.Arg1529Gln) rs727504000 0.00003
NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys) rs373234696 0.00003
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn) rs750381367 0.00003
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) rs751251720 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378120.1(MBD5):c.1510A>G (p.Met504Val) rs114251920 0.00002
NM_001378120.1(MBD5):c.1873C>T (p.Pro625Ser) rs749574412 0.00002
NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu) rs759990854 0.00002
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser) rs1358383505 0.00002
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala) rs752535474 0.00002
NM_001378120.1(MBD5):c.2770A>G (p.Ile924Val) rs150408488 0.00002
NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn) rs774999439 0.00002
NM_001378120.1(MBD5):c.379A>C (p.Ser127Arg) rs781432636 0.00002
NM_001378120.1(MBD5):c.3847C>G (p.Pro1283Ala) rs764468729 0.00002
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) rs142293829 0.00002
NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln) rs139042949 0.00002
NM_001378120.1(MBD5):c.476C>T (p.Ser159Phe) rs780774076 0.00002
NM_001378120.1(MBD5):c.4811C>T (p.Ser1604Phe) rs774820392 0.00002
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) rs767317924 0.00002
NM_001378120.1(MBD5):c.952T>C (p.Ser318Pro) rs745715010 0.00002
NM_001378120.1(MBD5):c.1012C>T (p.Pro338Ser) rs755505551 0.00001
NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile) rs1201462027 0.00001
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe) rs1230879827 0.00001
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu) rs142661175 0.00001
NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys) rs990365646 0.00001
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) rs766571687 0.00001
NM_001378120.1(MBD5):c.1420A>G (p.Met474Val) rs577567411 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg) rs116235310 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.1709A>G (p.Asn570Ser) rs1277304345 0.00001
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser) rs142495834 0.00001
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg) rs1370214658 0.00001
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp) rs750882049 0.00001
NM_001378120.1(MBD5):c.1935A>C (p.Arg645Ser) rs775494046 0.00001
NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg) rs398124342 0.00001
NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp) rs112334672 0.00001
NM_001378120.1(MBD5):c.1990A>G (p.Thr664Ala) rs142431261 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser) rs983507514 0.00001
NM_001378120.1(MBD5):c.2081G>T (p.Gly694Val) rs1417817158 0.00001
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp) rs886054909 0.00001
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser) rs747127657 0.00001
NM_001378120.1(MBD5):c.2213A>G (p.His738Arg) rs528789050 0.00001
NM_001378120.1(MBD5):c.2227A>C (p.Ser743Arg) rs1442226073 0.00001
NM_001378120.1(MBD5):c.2240G>C (p.Ser747Thr) rs1031639264 0.00001
NM_001378120.1(MBD5):c.2272G>A (p.Ala758Thr) rs921434746 0.00001
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser) rs1294270968 0.00001
NM_001378120.1(MBD5):c.2308C>T (p.His770Tyr) rs778118780 0.00001
NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly) rs777686665 0.00001
NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser) rs768601611 0.00001
NM_001378120.1(MBD5):c.2331C>A (p.Asn777Lys) rs865860163 0.00001
NM_001378120.1(MBD5):c.2381G>A (p.Gly794Glu) rs369612300 0.00001
NM_001378120.1(MBD5):c.2384T>A (p.Met795Lys) rs1446479503 0.00001
NM_001378120.1(MBD5):c.2402T>C (p.Met801Thr) rs756231796 0.00001
NM_001378120.1(MBD5):c.2452A>G (p.Thr818Ala) rs139911474 0.00001
NM_001378120.1(MBD5):c.2471T>C (p.Ile824Thr) rs1286239142 0.00001
NM_001378120.1(MBD5):c.2514A>C (p.Glu838Asp) rs1216163190 0.00001
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp) rs756065878 0.00001
NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile) rs780490918 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378120.1(MBD5):c.2740T>G (p.Leu914Val) rs1346667597 0.00001
NM_001378120.1(MBD5):c.2750G>A (p.Ser917Asn) rs748689212 0.00001
NM_001378120.1(MBD5):c.2795A>G (p.His932Arg) rs140228960 0.00001
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) rs377062993 0.00001
NM_001378120.1(MBD5):c.3673C>A (p.Leu1225Ile) rs776251206 0.00001
NM_001378120.1(MBD5):c.3695C>A (p.Ser1232Tyr) rs1681324168 0.00001
NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys) rs758196921 0.00001
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile) rs1553520435 0.00001
NM_001378120.1(MBD5):c.4054G>T (p.Ala1352Ser) rs373177231 0.00001
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val) rs1057518375 0.00001
NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn) rs1037868450 0.00001
NM_001378120.1(MBD5):c.4124C>T (p.Ala1375Val) rs767306594 0.00001
NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg) rs760629404 0.00001
NM_001378120.1(MBD5):c.4168A>G (p.Arg1390Gly) rs773278945 0.00001
NM_001378120.1(MBD5):c.4170G>T (p.Arg1390Ser) rs1312513915 0.00001
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn) rs749348330 0.00001
NM_001378120.1(MBD5):c.428C>T (p.Ala143Val) rs750151785 0.00001
NM_001378120.1(MBD5):c.437G>T (p.Arg146Ile) rs1411318062 0.00001
NM_001378120.1(MBD5):c.4417C>G (p.Leu1473Val) rs1400713495 0.00001
NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr) rs142913108 0.00001
NM_001378120.1(MBD5):c.4594C>T (p.Arg1532Trp) rs370659853 0.00001
NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg) rs747948310 0.00001
NM_001378120.1(MBD5):c.4601T>C (p.Phe1534Ser) rs755983540 0.00001
NM_001378120.1(MBD5):c.4648C>A (p.Gln1550Lys) rs764472472 0.00001
NM_001378120.1(MBD5):c.4730G>A (p.Ser1577Asn) rs755214586 0.00001
NM_001378120.1(MBD5):c.4820A>T (p.Glu1607Val) rs1470442862 0.00001
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln) rs763299719 0.00001
NM_001378120.1(MBD5):c.4915G>A (p.Glu1639Lys) rs1395912880 0.00001
NM_001378120.1(MBD5):c.4921G>A (p.Asp1641Asn) rs780805788 0.00001
NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile) rs770196931 0.00001
NM_001378120.1(MBD5):c.4963G>A (p.Val1655Met) rs957554797 0.00001
NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln) rs750291645 0.00001
NM_001378120.1(MBD5):c.5036+6C>T rs372049573 0.00001
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys) rs534850589 0.00001
NM_001378120.1(MBD5):c.5179A>G (p.Arg1727Gly) rs1243468520 0.00001
NM_001378120.1(MBD5):c.57A>G (p.Ile19Met) rs757256547 0.00001
NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys) rs777516937 0.00001
NM_001378120.1(MBD5):c.677C>T (p.Ser226Leu) rs1680672960 0.00001
NM_001378120.1(MBD5):c.742G>C (p.Asp248His) rs753529014 0.00001
NM_001378120.1(MBD5):c.801C>G (p.His267Gln) rs747135508 0.00001
NM_001378120.1(MBD5):c.817C>T (p.Leu273Phe) rs776894242 0.00001
NM_001378120.1(MBD5):c.83G>A (p.Arg28His) rs201699340 0.00001
NM_001378120.1(MBD5):c.860C>T (p.Ser287Leu) rs1411303556 0.00001
NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr) rs200561241 0.00001
NM_001378120.1(MBD5):c.962T>C (p.Met321Thr) rs140978568 0.00001
NM_001378120.1(MBD5):c.964G>C (p.Glu322Gln) rs760694122 0.00001
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
NC_000002.11:g.(?_149216308)_(149270530_?)dup
NM_001378120.1(MBD5):c.1010C>A (p.Pro337His)
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
NM_001378120.1(MBD5):c.1016C>T (p.Pro339Leu) rs748307129
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del) rs1388983985
NM_001378120.1(MBD5):c.1025C>A (p.Pro342His) rs1406381561
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe) rs1201462027
NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu)
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_001378120.1(MBD5):c.1081C>T (p.Leu361Phe) rs2105629006
NM_001378120.1(MBD5):c.1084G>A (p.Asp362Asn) rs1335443686
NM_001378120.1(MBD5):c.1084G>C (p.Asp362His) rs1335443686
NM_001378120.1(MBD5):c.1093C>G (p.Pro365Ala)
NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu) rs794727974
NM_001378120.1(MBD5):c.1100A>G (p.Lys367Arg)
NM_001378120.1(MBD5):c.1101A>C (p.Lys367Asn)
NM_001378120.1(MBD5):c.1109A>G (p.Asn370Ser)
NM_001378120.1(MBD5):c.1115A>G (p.Asn372Ser)
NM_001378120.1(MBD5):c.113+5G>A
NM_001378120.1(MBD5):c.1138A>G (p.Ser380Gly) rs1680696075
NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp)
NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser)
NM_001378120.1(MBD5):c.1163A>G (p.Gln388Arg)
NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser)
NM_001378120.1(MBD5):c.1205C>T (p.Pro402Leu)
NM_001378120.1(MBD5):c.1213A>G (p.Ser405Gly) rs1311216238
NM_001378120.1(MBD5):c.1223C>T (p.Pro408Leu)
NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)
NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr)
NM_001378120.1(MBD5):c.1249_1263del (p.Met417_Ser421del) rs1559086500
NM_001378120.1(MBD5):c.1250T>C (p.Met417Thr) rs1574460069
NM_001378120.1(MBD5):c.1251G>A (p.Met417Ile)
NM_001378120.1(MBD5):c.1251G>C (p.Met417Ile) rs1559086508
NM_001378120.1(MBD5):c.1255C>T (p.His419Tyr)
NM_001378120.1(MBD5):c.1256A>G (p.His419Arg) rs1680702734
NM_001378120.1(MBD5):c.1258G>A (p.Gly420Arg) rs1352167434
NM_001378120.1(MBD5):c.1262G>A (p.Ser421Asn) rs2105631080
NM_001378120.1(MBD5):c.1271A>T (p.Gln424Leu) rs2105631231
NM_001378120.1(MBD5):c.1288G>T (p.Ala430Ser) rs2105631326
NM_001378120.1(MBD5):c.1294A>G (p.Thr432Ala)
NM_001378120.1(MBD5):c.1297T>A (p.Ser433Thr) rs2105631414
NM_001378120.1(MBD5):c.1318A>G (p.Thr440Ala)
NM_001378120.1(MBD5):c.1319C>G (p.Thr440Arg) rs1247282095
NM_001378120.1(MBD5):c.1321T>C (p.Ser441Pro)
NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_001378120.1(MBD5):c.1336A>G (p.Met446Val)
NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr)
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr) rs2105632032
NM_001378120.1(MBD5):c.1369C>T (p.Pro457Ser)
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) rs139186486
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
NM_001378120.1(MBD5):c.1381C>T (p.Arg461Cys) rs796052709
NM_001378120.1(MBD5):c.138C>T (p.Cys46=)
NM_001378120.1(MBD5):c.1408G>A (p.Gly470Arg)
NM_001378120.1(MBD5):c.1417A>G (p.Met473Val) rs1064796951
NM_001378120.1(MBD5):c.1417ATG[1] (p.Met474del) rs1680710056
NM_001378120.1(MBD5):c.1433G>A (p.Gly478Glu)
NM_001378120.1(MBD5):c.1441G>C (p.Ala481Pro)
NM_001378120.1(MBD5):c.1453G>A (p.Gly485Ser)
NM_001378120.1(MBD5):c.1457T>A (p.Ile486Asn) rs1680712001
NM_001378120.1(MBD5):c.1462G>A (p.Val488Ile) rs778427674
NM_001378120.1(MBD5):c.1468C>T (p.Pro490Ser)
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.1475C>T (p.Ser492Leu)
NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)
NM_001378120.1(MBD5):c.1520G>A (p.Ser507Asn)
NM_001378120.1(MBD5):c.1528A>G (p.Thr510Ala) rs762417251
NM_001378120.1(MBD5):c.1544A>G (p.His515Arg)
NM_001378120.1(MBD5):c.1551G>C (p.Gln517His)
NM_001378120.1(MBD5):c.1560T>G (p.Asp520Glu) rs113472052
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_001378120.1(MBD5):c.1583G>A (p.Gly528Glu) rs1300246516
NM_001378120.1(MBD5):c.1588A>C (p.Ser530Arg)
NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala)
NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)
NM_001378120.1(MBD5):c.1627A>C (p.Thr543Pro) rs1414607857
NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys) rs1553518618
NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp)
NM_001378120.1(MBD5):c.1646G>A (p.Ser549Asn) rs2105635382
NM_001378120.1(MBD5):c.1667G>A (p.Gly556Asp) rs750365107
NM_001378120.1(MBD5):c.1669T>A (p.Leu557Met) rs2105635656
NM_001378120.1(MBD5):c.1671G>C (p.Leu557Phe)
NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu)
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile) rs1574460777
NM_001378120.1(MBD5):c.1695C>G (p.Ile565Met)
NM_001378120.1(MBD5):c.1697T>G (p.Leu566Trp)
NM_001378120.1(MBD5):c.1698G>C (p.Leu566Phe)
NM_001378120.1(MBD5):c.16G>C (p.Glu6Gln)
NM_001378120.1(MBD5):c.1702C>G (p.Gln568Glu)
NM_001378120.1(MBD5):c.1706A>G (p.His569Arg)
NM_001378120.1(MBD5):c.1718C>T (p.Ser573Phe) rs540723139
NM_001378120.1(MBD5):c.1729A>G (p.Ser577Gly)
NM_001378120.1(MBD5):c.1732A>G (p.Ser578Gly)
NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg)
NM_001378120.1(MBD5):c.1783G>T (p.Ala595Ser) rs1302791673
NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser)
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.1842_1865del (p.Glu615_Thr622del) rs780715275
NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)
NM_001378120.1(MBD5):c.1862A>T (p.Asn621Ile)
NM_001378120.1(MBD5):c.1867A>G (p.Met623Val)
NM_001378120.1(MBD5):c.1868T>C (p.Met623Thr) rs1036713038
NM_001378120.1(MBD5):c.1869G>A (p.Met623Ile) rs1680731400
NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu)
NM_001378120.1(MBD5):c.1879A>G (p.Thr627Ala) rs779256872
NM_001378120.1(MBD5):c.1890G>T (p.Met630Ile) rs1475773218
NM_001378120.1(MBD5):c.1892T>C (p.Leu631Pro)
NM_001378120.1(MBD5):c.1910G>A (p.Gly637Glu)
NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser)
NM_001378120.1(MBD5):c.1961A>G (p.Asp654Gly)
NM_001378120.1(MBD5):c.1962C>A (p.Asp654Glu) rs139953766
NM_001378120.1(MBD5):c.1963G>T (p.Ala655Ser)
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly) rs112334672
NM_001378120.1(MBD5):c.1975A>G (p.Arg659Gly)
NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln) rs1280684603
NM_001378120.1(MBD5):c.1987C>A (p.Pro663Thr)
NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser) rs1057520996
NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met) rs755862882
NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met) rs529715710
NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg) rs766104877
NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn)
NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg)
NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile)
NM_001378120.1(MBD5):c.2038G>A (p.Val680Ile)
NM_001378120.1(MBD5):c.2038G>T (p.Val680Phe)
NM_001378120.1(MBD5):c.2045A>G (p.Lys682Arg)
NM_001378120.1(MBD5):c.2051G>A (p.Gly684Glu) rs1680739908
NM_001378120.1(MBD5):c.2060T>G (p.Leu687Trp)
NM_001378120.1(MBD5):c.2081G>A (p.Gly694Asp)
NM_001378120.1(MBD5):c.2086T>C (p.Phe696Leu)
NM_001378120.1(MBD5):c.2087T>G (p.Phe696Cys)
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala) rs1394309796
NM_001378120.1(MBD5):c.2120C>T (p.Ser707Phe) rs2105639837
NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu) rs796052721
NM_001378120.1(MBD5):c.2124_2125delinsTT (p.Met708_Ser709delinsIleCys)
NM_001378120.1(MBD5):c.2126G>A (p.Ser709Asn)
NM_001378120.1(MBD5):c.2127T>G (p.Ser709Arg) rs763873615
NM_001378120.1(MBD5):c.2147G>A (p.Ser716Asn)
NM_001378120.1(MBD5):c.2153A>G (p.Asn718Ser)
NM_001378120.1(MBD5):c.2164G>C (p.Gly722Arg)
NM_001378120.1(MBD5):c.2164G>T (p.Gly722Cys) rs143584574
NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe)
NM_001378120.1(MBD5):c.2177C>T (p.Ser726Leu) rs781532539
NM_001378120.1(MBD5):c.2200G>A (p.Ala734Thr)
NM_001378120.1(MBD5):c.2234A>G (p.Asn745Ser)
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) rs2105641052
NM_001378120.1(MBD5):c.224A>G (p.Asn75Ser) rs2105581271
NM_001378120.1(MBD5):c.2252A>G (p.Asn751Ser)
NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr) rs1060501150
NM_001378120.1(MBD5):c.2296A>G (p.Thr766Ala)
NM_001378120.1(MBD5):c.2297C>G (p.Thr766Ser)
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
NM_001378120.1(MBD5):c.2350A>G (p.Ile784Val)
NM_001378120.1(MBD5):c.2358G>T (p.Gln786His) rs1574462092
NM_001378120.1(MBD5):c.2359A>T (p.Ile787Phe)
NM_001378120.1(MBD5):c.236G>T (p.Gly79Val)
NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg) rs2105642407
NM_001378120.1(MBD5):c.2381G>T (p.Gly794Val)
NM_001378120.1(MBD5):c.2390G>T (p.Ser797Ile) rs1187810931
NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg) rs1680753685
NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg) rs1060501152
NM_001378120.1(MBD5):c.244G>T (p.Val82Leu)
NM_001378120.1(MBD5):c.2453C>G (p.Thr818Arg) rs1413186409
NM_001378120.1(MBD5):c.2453C>T (p.Thr818Met)
NM_001378120.1(MBD5):c.2462C>T (p.Thr821Ile)
NM_001378120.1(MBD5):c.2465C>T (p.Pro822Leu) rs2105643339
NM_001378120.1(MBD5):c.2472A>G (p.Ile824Met) rs1574462288
NM_001378120.1(MBD5):c.247A>G (p.Lys83Glu) rs1559083055
NM_001378120.1(MBD5):c.2482A>C (p.Ile828Leu) rs2105643462
NM_001378120.1(MBD5):c.2495A>G (p.Tyr832Cys) rs954814725
NM_001378120.1(MBD5):c.2518+6G>A
NM_001378120.1(MBD5):c.2519G>C (p.Gly840Ala) rs2105071209
NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del) rs1681214533
NM_001378120.1(MBD5):c.2527G>A (p.Gly843Arg)
NM_001378120.1(MBD5):c.2527_2529dup (p.Gly843dup) rs2105071357
NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu) rs2105071391
NM_001378120.1(MBD5):c.2539T>C (p.Ser847Pro) rs2105071445
NM_001378120.1(MBD5):c.2546C>T (p.Ala849Val)
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val) rs1574476665
NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu) rs144557654
NM_001378120.1(MBD5):c.2565C>G (p.His855Gln) rs2105071741
NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del)
NM_001378120.1(MBD5):c.2585C>T (p.Thr862Ile) rs1681217722
NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu)
NM_001378120.1(MBD5):c.259G>A (p.Ala87Thr) rs755990856
NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe) rs116207524
NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala) rs753164504
NM_001378120.1(MBD5):c.2617A>G (p.Thr873Ala)
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_001378120.1(MBD5):c.2636T>G (p.Leu879Arg)
NM_001378120.1(MBD5):c.2642G>A (p.Ser881Asn) rs1559094826
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_001378120.1(MBD5):c.2653A>G (p.Ile885Val) rs2105072567
NM_001378120.1(MBD5):c.2686C>A (p.His896Asn)
NM_001378120.1(MBD5):c.268G>A (p.Val90Ile) rs1329667912
NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe)
NM_001378120.1(MBD5):c.2720A>G (p.Asn907Ser) rs2105073027
NM_001378120.1(MBD5):c.2721C>A (p.Asn907Lys)
NM_001378120.1(MBD5):c.2725C>T (p.His909Tyr)
NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val)
NM_001378120.1(MBD5):c.2734C>T (p.His912Tyr) rs1681223936
NM_001378120.1(MBD5):c.2736C>A (p.His912Gln) rs756653034
NM_001378120.1(MBD5):c.2738C>T (p.Pro913Leu)
NM_001378120.1(MBD5):c.2750G>C (p.Ser917Thr)
NM_001378120.1(MBD5):c.2752C>T (p.Leu918Phe)
NM_001378120.1(MBD5):c.2762C>G (p.Ser921Cys)
NM_001378120.1(MBD5):c.2773T>A (p.Ser925Thr)
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe)
NM_001378120.1(MBD5):c.2827C>G (p.Gln943Glu)
NM_001378120.1(MBD5):c.2830C>G (p.Pro944Ala)
NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg)
NM_001378120.1(MBD5):c.28G>A (p.Gly10Arg) rs1706964102
NM_001378120.1(MBD5):c.290C>T (p.Thr97Ile) rs1341554170
NM_001378120.1(MBD5):c.302T>C (p.Ile101Thr) rs1559083106
NM_001378120.1(MBD5):c.308A>G (p.Lys103Arg)
NM_001378120.1(MBD5):c.321T>G (p.Ile107Met) rs1553517962
NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly)
NM_001378120.1(MBD5):c.337C>A (p.His113Asn)
NM_001378120.1(MBD5):c.337C>T (p.His113Tyr)
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp) rs765892446
NM_001378120.1(MBD5):c.3545-3T>C
NM_001378120.1(MBD5):c.3547G>A (p.Asp1183Asn)
NM_001378120.1(MBD5):c.3551T>C (p.Met1184Thr) rs1681317802
NM_001378120.1(MBD5):c.3564C>A (p.Asn1188Lys) rs1559096615
NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys)
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys) rs1200329763
NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn)
NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile) rs750939401
NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser)
NM_001378120.1(MBD5):c.3624G>A (p.Met1208Ile)
NM_001378120.1(MBD5):c.3650A>G (p.Gln1217Arg) rs1681321643
NM_001378120.1(MBD5):c.3650_3652del (p.Gln1217del) rs2105093794
NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe)
NM_001378120.1(MBD5):c.3677A>G (p.Gln1226Arg)
NM_001378120.1(MBD5):c.3679G>A (p.Ala1227Thr)
NM_001378120.1(MBD5):c.3685C>A (p.Gln1229Lys) rs2105094167
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu) rs1429887811
NM_001378120.1(MBD5):c.3692A>C (p.Gln1231Pro)
NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)
NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser)
NM_001378120.1(MBD5):c.3727A>G (p.Met1243Val) rs1681325771
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr) rs1435405119
NM_001378120.1(MBD5):c.3730G>A (p.Ala1244Thr) rs1386609853
NM_001378120.1(MBD5):c.3734G>A (p.Cys1245Tyr) rs1559096858
NM_001378120.1(MBD5):c.3737T>C (p.Leu1246Pro)
NM_001378120.1(MBD5):c.3761T>G (p.Met1254Arg)
NM_001378120.1(MBD5):c.3764A>C (p.Gln1255Pro)
NM_001378120.1(MBD5):c.3766G>A (p.Glu1256Lys) rs1064796473
NM_001378120.1(MBD5):c.3770A>T (p.Asp1257Val) rs1681443164
NM_001378120.1(MBD5):c.3772G>T (p.Ala1258Ser) rs1553520432
NM_001378120.1(MBD5):c.3791G>C (p.Arg1264Thr)
NM_001378120.1(MBD5):c.3797G>T (p.Ser1266Ile) rs2105123807
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile) rs1681444814
NM_001378120.1(MBD5):c.3812T>C (p.Leu1271Pro) rs963277503
NM_001378120.1(MBD5):c.3856C>G (p.Gln1286Glu)
NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln)
NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp)
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys) rs796052715
NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val)
NM_001378120.1(MBD5):c.3925G>T (p.Val1309Phe)
NM_001378120.1(MBD5):c.3931G>T (p.Gly1311Cys)
NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp) rs1352862206
NM_001378120.1(MBD5):c.3934G>T (p.Gly1312Cys) rs1172686822
NM_001378120.1(MBD5):c.3935_3936delinsTT (p.Gly1312Val)
NM_001378120.1(MBD5):c.3938C>G (p.Pro1313Arg)
NM_001378120.1(MBD5):c.3940G>C (p.Gly1314Arg)
NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala) rs1707177360
NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp)
NM_001378120.1(MBD5):c.398-3C>T
NM_001378120.1(MBD5):c.3985G>A (p.Ala1329Thr)
NM_001378120.1(MBD5):c.4002G>T (p.Gln1334His) rs1681454577
NM_001378120.1(MBD5):c.4013C>T (p.Thr1338Ile)
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
NM_001378120.1(MBD5):c.4048A>G (p.Ile1350Val)
NM_001378120.1(MBD5):c.4051C>T (p.Pro1351Ser) rs886054912
NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg)
NM_001378120.1(MBD5):c.4087A>G (p.Ile1363Val)
NM_001378120.1(MBD5):c.4091G>A (p.Gly1364Asp) rs2105126261
NM_001378120.1(MBD5):c.4094A>G (p.Asp1365Gly)
NM_001378120.1(MBD5):c.4096C>T (p.Pro1366Ser)
NM_001378120.1(MBD5):c.4097C>G (p.Pro1366Arg) rs2105126294
NM_001378120.1(MBD5):c.4115C>T (p.Ala1372Val) rs1363547537
NM_001378120.1(MBD5):c.4122T>A (p.Ser1374Arg)
NM_001378120.1(MBD5):c.4126G>A (p.Val1376Ile)
NM_001378120.1(MBD5):c.4135G>C (p.Gly1379Arg) rs1559098890
NM_001378120.1(MBD5):c.413T>C (p.Val138Ala) rs2105622190
NM_001378120.1(MBD5):c.4141A>G (p.Asn1381Asp)
NM_001378120.1(MBD5):c.4142A>G (p.Asn1381Ser)
NM_001378120.1(MBD5):c.4143C>G (p.Asn1381Lys) rs758083193
NM_001378120.1(MBD5):c.4151G>A (p.Gly1384Asp)
NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)
NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg)
NM_001378120.1(MBD5):c.4185A>C (p.Arg1395Ser)
NM_001378120.1(MBD5):c.4187G>A (p.Gly1396Glu)
NM_001378120.1(MBD5):c.4204A>C (p.Asn1402His)
NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu)
NM_001378120.1(MBD5):c.4237G>A (p.Asp1413Asn) rs2105127714
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378120.1(MBD5):c.4247A>C (p.Glu1416Ala)
NM_001378120.1(MBD5):c.4248A>C (p.Glu1416Asp) rs201465308
NM_001378120.1(MBD5):c.424G>A (p.Ala142Thr)
NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn)
NM_001378120.1(MBD5):c.4268G>T (p.Cys1423Phe) rs1486727511
NM_001378120.1(MBD5):c.4276T>G (p.Ser1426Ala) rs1681466995
NM_001378120.1(MBD5):c.4277C>A (p.Ser1426Tyr)
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu) rs1681467295
NM_001378120.1(MBD5):c.4288T>C (p.Trp1430Arg)
NM_001378120.1(MBD5):c.4292A>G (p.Asp1431Gly) rs1681467352
NM_001378120.1(MBD5):c.4293C>G (p.Asp1431Glu)
NM_001378120.1(MBD5):c.4313G>A (p.Gly1438Glu) rs1559099144
NM_001378120.1(MBD5):c.4313G>T (p.Gly1438Val) rs1559099144
NM_001378120.1(MBD5):c.4317G>T (p.Glu1439Asp)
NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile) rs1553518402
NM_001378120.1(MBD5):c.4322A>G (p.Asn1441Ser) rs1574485128
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) rs1681469923
NM_001378120.1(MBD5):c.4336G>A (p.Glu1446Lys)
NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly)
NM_001378120.1(MBD5):c.4387A>G (p.Arg1463Gly)
NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)
NM_001378120.1(MBD5):c.4389G>T (p.Arg1463Ser) rs1371018820
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser) rs1681472341
NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu)
NM_001378120.1(MBD5):c.4414T>C (p.Phe1472Leu)
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn) rs2105129435
NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)
NM_001378120.1(MBD5):c.443T>C (p.Val148Ala)
NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser) rs747940875
NM_001378120.1(MBD5):c.4457A>C (p.Asn1486Thr) rs1681475025
NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu)
NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu) rs370231736
NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys)
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) rs1165120864
NM_001378120.1(MBD5):c.4498A>G (p.Asn1500Asp)
NM_001378120.1(MBD5):c.4499A>T (p.Asn1500Ile)
NM_001378120.1(MBD5):c.4507A>G (p.Lys1503Glu) rs1574485440
NM_001378120.1(MBD5):c.4520T>C (p.Met1507Thr)
NM_001378120.1(MBD5):c.4521G>T (p.Met1507Ile)
NM_001378120.1(MBD5):c.4523G>A (p.Ser1508Asn)
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln) rs1296916399
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4591A>G (p.Ser1531Gly) rs781154198
NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser)
NM_001378120.1(MBD5):c.4637T>C (p.Val1546Ala)
NM_001378120.1(MBD5):c.4642G>A (p.Glu1548Lys)
NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys)
NM_001378120.1(MBD5):c.4651T>C (p.Ser1551Pro)
NM_001378120.1(MBD5):c.4654C>T (p.Pro1552Ser)
NM_001378120.1(MBD5):c.4669A>G (p.Ser1557Gly)
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn) rs1278585545
NM_001378120.1(MBD5):c.4679A>T (p.Asn1560Ile) rs1559099606
NM_001378120.1(MBD5):c.467T>C (p.Ile156Thr) rs1465957655
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
NM_001378120.1(MBD5):c.4691A>G (p.Lys1564Arg)
NM_001378120.1(MBD5):c.4692A>C (p.Lys1564Asn) rs1553520621
NM_001378120.1(MBD5):c.4703A>G (p.His1568Arg) rs999944646
NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln)
NM_001378120.1(MBD5):c.4709A>G (p.Asn1570Ser)
NM_001378120.1(MBD5):c.4741T>C (p.Cys1581Arg) rs1396512077
NM_001378120.1(MBD5):c.4769G>A (p.Ser1590Asn) rs2105131988
NM_001378120.1(MBD5):c.4833T>C (p.Tyr1611=) rs1681489070
NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr) rs773779478
NM_001378120.1(MBD5):c.4837C>G (p.Pro1613Ala) rs773779478
NM_001378120.1(MBD5):c.4848C>G (p.Phe1616Leu)
NM_001378120.1(MBD5):c.4849A>G (p.Asn1617Asp) rs1681490063
NM_001378120.1(MBD5):c.4850A>C (p.Asn1617Thr) rs753754490
NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg)
NM_001378120.1(MBD5):c.4904A>T (p.Lys1635Ile) rs1681492416
NM_001378120.1(MBD5):c.490T>C (p.Cys164Arg)
NM_001378120.1(MBD5):c.4920C>A (p.Asp1640Glu) rs768363712
NM_001378120.1(MBD5):c.4924G>T (p.Val1642Phe) rs770196931
NM_001378120.1(MBD5):c.4931A>T (p.Asn1644Ile)
NM_001378120.1(MBD5):c.4962+6C>A rs2105133581
NM_001378120.1(MBD5):c.4963-2A>T rs2105225632
NM_001378120.1(MBD5):c.4966G>C (p.Glu1656Gln)
NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg)
NM_001378120.1(MBD5):c.4996G>A (p.Gly1666Ser)
NM_001378120.1(MBD5):c.5021G>C (p.Arg1674Pro)
NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser)
NM_001378120.1(MBD5):c.5050A>T (p.Asn1684Tyr)
NM_001378120.1(MBD5):c.5071_5073dup (p.Ile1691_His1692insIle)
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile) rs1682172933
NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly)
NM_001378120.1(MBD5):c.50C>A (p.Pro17Gln)
NM_001378120.1(MBD5):c.50C>T (p.Pro17Leu) rs1706964965
NM_001378120.1(MBD5):c.5103_5104del (p.Met1701fs)
NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro) rs1131691294
NM_001378120.1(MBD5):c.5104_5107del (p.Ser1702fs)
NM_001378120.1(MBD5):c.5130G>C (p.Gln1710His) rs2105294933
NM_001378120.1(MBD5):c.5138G>A (p.Arg1713Lys) rs913152551
NM_001378120.1(MBD5):c.513G>A (p.Met171Ile) rs1301707163
NM_001378120.1(MBD5):c.5140C>A (p.Gln1714Lys)
NM_001378120.1(MBD5):c.5140C>T (p.Gln1714Ter)
NM_001378120.1(MBD5):c.5149C>T (p.Pro1717Ser)
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu) rs1682261070
NM_001378120.1(MBD5):c.5154dup (p.Lys1719fs)
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn) rs1553523408
NM_001378120.1(MBD5):c.5159C>T (p.Pro1720Leu) rs2105295194
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr) rs1481914876
NM_001378120.1(MBD5):c.5175C>G (p.Ile1725Met)
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
NM_001378120.1(MBD5):c.521C>T (p.Ser174Leu)
NM_001378120.1(MBD5):c.524C>T (p.Ser175Leu)
NM_001378120.1(MBD5):c.540G>C (p.Arg180Ser)
NM_001378120.1(MBD5):c.540_541delinsTA (p.Arg180_Leu181delinsSerIle) rs1680666363
NM_001378120.1(MBD5):c.55A>G (p.Ile19Val) rs1559080667
NM_001378120.1(MBD5):c.560C>A (p.Pro187His) rs2105623463
NM_001378120.1(MBD5):c.568CAA[2] (p.Gln192del)
NM_001378120.1(MBD5):c.577G>C (p.Glu193Gln)
NM_001378120.1(MBD5):c.601C>A (p.Gln201Lys)
NM_001378120.1(MBD5):c.611G>A (p.Gly204Asp) rs2105624053
NM_001378120.1(MBD5):c.622C>T (p.His208Tyr) rs1574458957
NM_001378120.1(MBD5):c.623A>G (p.His208Arg)
NM_001378120.1(MBD5):c.629A>G (p.Gln210Arg)
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser)
NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg)
NM_001378120.1(MBD5):c.655G>A (p.Gly219Arg)
NM_001378120.1(MBD5):c.674C>T (p.Ala225Val) rs1680672762
NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys)
NM_001378120.1(MBD5):c.698G>A (p.Gly233Glu) rs1680673882
NM_001378120.1(MBD5):c.706T>C (p.Ser236Pro)
NM_001378120.1(MBD5):c.706T>G (p.Ser236Ala) rs1680674275
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys) rs2105537073
NM_001378120.1(MBD5):c.728C>T (p.Pro243Leu)
NM_001378120.1(MBD5):c.742G>A (p.Asp248Asn)
NM_001378120.1(MBD5):c.754A>G (p.Arg252Gly)
NM_001378120.1(MBD5):c.755G>A (p.Arg252Lys) rs1680677784
NM_001378120.1(MBD5):c.759T>G (p.Ser253Arg)
NM_001378120.1(MBD5):c.779C>A (p.Ala260Asp)
NM_001378120.1(MBD5):c.788C>G (p.Ser263Cys)
NM_001378120.1(MBD5):c.797T>G (p.Ile266Ser) rs2105626027
NM_001378120.1(MBD5):c.800A>G (p.His267Arg) rs796052708
NM_001378120.1(MBD5):c.809G>A (p.Arg270Lys)
NM_001378120.1(MBD5):c.80G>A (p.Arg27His) rs1706965994
NM_001378120.1(MBD5):c.811A>G (p.Thr271Ala) rs899476247
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)
NM_001378120.1(MBD5):c.817C>G (p.Leu273Val) rs776894242
NM_001378120.1(MBD5):c.826C>G (p.Pro276Ala)
NM_001378120.1(MBD5):c.829T>G (p.Ser277Ala)
NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys)
NM_001378120.1(MBD5):c.845G>A (p.Gly282Asp) rs759201974
NM_001378120.1(MBD5):c.857A>G (p.Gln286Arg)
NM_001378120.1(MBD5):c.887A>G (p.Asn296Ser) rs990703439
NM_001378120.1(MBD5):c.889A>C (p.Ile297Leu) rs2105626905
NM_001378120.1(MBD5):c.889A>G (p.Ile297Val) rs2105626905
NM_001378120.1(MBD5):c.893C>T (p.Pro298Leu)
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val) rs794727807
NM_001378120.1(MBD5):c.920G>A (p.Ser307Asn)
NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln)
NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)
NM_001378120.1(MBD5):c.942G>A (p.Met314Ile)
NM_001378120.1(MBD5):c.948T>A (p.Asn316Lys)
NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg)
NM_001378120.1(MBD5):c.979A>G (p.Met327Val) rs1680685772
NM_001378120.1(MBD5):c.989A>G (p.His330Arg) rs750043178
NM_018328.4:c.-925+35305_-557+13791del

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