ClinVar Miner

List of variants reported as uncertain significance for 2q23.1 microdeletion syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 608
Download table as spreadsheet
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.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_001386298.1(CIC):c.2917C>T (p.His973Tyr)
NM_004933.3(CDH15):c.160G>T (p.Val54Leu)
NM_018328.4:c.-925+35305_-557+13791del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.