ClinVar Miner

List of variants in gene MBD5 studied for Intellectual disability, autosomal dominant 1

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Gene type:
ClinVar version:
Total variants: 1319
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.2519-20T>G rs775650772 0.01348
NM_001378120.1(MBD5):c.2519-18T>G rs555177897 0.00625
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) rs145808884 0.00047
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val) rs115495710 0.00029
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_001378120.1(MBD5):c.2502A>C (p.Gln834His) rs147272790 0.00021
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00019
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.4963-11C>T rs147291009 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.217-16G>C rs377517776 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) rs774513612 0.00011
NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=) rs775314520 0.00010
NM_001378120.1(MBD5):c.1458T>C (p.Ile486=) rs144232195 0.00009
NM_001378120.1(MBD5):c.1965A>C (p.Ala655=) rs774148814 0.00009
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr) rs370340010 0.00009
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 0.00009
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) rs534413662 0.00009
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) rs756608508 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.3677A>C (p.Gln1226Pro) rs761395486 0.00008
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) rs114359726 0.00007
NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=) rs572893308 0.00007
NM_001378120.1(MBD5):c.3690A>G (p.Gly1230=) rs139379552 0.00007
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg) rs201334086 0.00007
NM_001378120.1(MBD5):c.4963-10C>T rs201439677 0.00007
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu) rs768570356 0.00006
NM_001378120.1(MBD5):c.1536C>T (p.Ser512=) rs147908860 0.00006
NM_001378120.1(MBD5):c.1999T>C (p.Leu667=) rs529715710 0.00006
NM_001378120.1(MBD5):c.267T>C (p.Asp89=) rs143333632 0.00006
NM_001378120.1(MBD5):c.3726C>T (p.Pro1242=) rs144464864 0.00006
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) rs150972614 0.00006
NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln) rs368605084 0.00006
NM_001378120.1(MBD5):c.1449T>C (p.Ser483=) rs777754350 0.00005
NM_001378120.1(MBD5):c.183G>A (p.Lys61=) rs140522551 0.00005
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
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.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001378120.1(MBD5):c.113+4A>G rs201821636 0.00004
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) rs771672174 0.00004
NM_001378120.1(MBD5):c.2148T>C (p.Ser716=) rs746698199 0.00004
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp) rs748328427 0.00004
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=) rs376037852 0.00004
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.2454G>A (p.Thr818=) rs769275989 0.00004
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn) rs398124344 0.00004
NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr) rs770801894 0.00004
NM_001378120.1(MBD5):c.327G>A (p.Val109=) rs760258675 0.00004
NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=) rs774912000 0.00004
NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=) rs143854410 0.00004
NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg) rs370534487 0.00004
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu) rs375158010 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.397+20G>A rs201763502 0.00004
NM_001378120.1(MBD5):c.4047C>T (p.Pro1349=) rs367766748 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4161T>C (p.His1387=) rs748321288 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.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) rs776228346 0.00004
NM_001378120.1(MBD5):c.1074T>C (p.Leu358=) rs751940096 0.00003
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.1304C>T (p.Ser435Phe) rs768225923 0.00003
NM_001378120.1(MBD5):c.1327G>A (p.Val443Met) rs137977565 0.00003
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile) rs748835022 0.00003
NM_001378120.1(MBD5):c.1367C>T (p.Ser456Leu) rs775742332 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.1902A>G (p.Thr634=) rs150800810 0.00003
NM_001378120.1(MBD5):c.1962C>T (p.Asp654=) rs139953766 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.2519-17T>C rs1038628491 0.00003
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) rs752445724 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.3603G>A (p.Ser1201=) rs138058889 0.00003
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val) rs773522192 0.00003
NM_001378120.1(MBD5):c.3851C>A (p.Pro1284His) rs761872951 0.00003
NM_001378120.1(MBD5):c.4125G>A (p.Ala1375=) rs142981321 0.00003
NM_001378120.1(MBD5):c.4215T>C (p.His1405=) rs768977000 0.00003
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) rs200245855 0.00003
NM_001378120.1(MBD5):c.4566C>T (p.His1522=) rs1354346236 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.4746G>T (p.Val1582=) rs138337378 0.00003
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn) rs750381367 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 0.00003
NM_001378120.1(MBD5):c.4920C>T (p.Asp1640=) rs768363712 0.00003
NM_001378120.1(MBD5):c.5058T>C (p.His1686=) rs1466985995 0.00003
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) rs751251720 0.00003
NM_001378120.1(MBD5):c.81T>G (p.Arg27=) rs746075256 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.943T>G (p.Cys315Gly) rs770076687 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378120.1(MBD5):c.1008A>G (p.Pro336=) rs1451243161 0.00002
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=) rs762047019 0.00002
NM_001378120.1(MBD5):c.1510A>G (p.Met504Val) rs114251920 0.00002
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp) rs757922781 0.00002
NM_001378120.1(MBD5):c.1606C>G (p.Pro536Ala) rs748471992 0.00002
NM_001378120.1(MBD5):c.1653A>G (p.Val551=) rs765225789 0.00002
NM_001378120.1(MBD5):c.1700A>G (p.Asn567Ser) rs116095017 0.00002
NM_001378120.1(MBD5):c.1803C>T (p.Ser601=) rs772321704 0.00002
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=) rs761655364 0.00002
NM_001378120.1(MBD5):c.1873C>T (p.Pro625Ser) rs749574412 0.00002
NM_001378120.1(MBD5):c.1920T>C (p.Gly640=) rs1031744379 0.00002
NM_001378120.1(MBD5):c.2274C>T (p.Ala758=) rs374820728 0.00002
NM_001378120.1(MBD5):c.2286C>T (p.His762=) rs370574043 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.258C>T (p.Thr86=) rs542137271 0.00002
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu) rs766460176 0.00002
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala) rs752535474 0.00002
NM_001378120.1(MBD5):c.2678G>A (p.Gly893Asp) rs753761893 0.00002
NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg) rs935799783 0.00002
NM_001378120.1(MBD5):c.2770A>G (p.Ile924Val) rs150408488 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn) rs774999439 0.00002
NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser) rs754193314 0.00002
NM_001378120.1(MBD5):c.3585A>G (p.Gln1195=) rs762160418 0.00002
NM_001378120.1(MBD5):c.3586C>G (p.Leu1196Val) rs765790042 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.3924C>T (p.Leu1308=) rs146096552 0.00002
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=) rs762115057 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) rs142293829 0.00002
NM_001378120.1(MBD5):c.4306C>T (p.Pro1436Ser) rs776446296 0.00002
NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln) rs139042949 0.00002
NM_001378120.1(MBD5):c.4351C>T (p.His1451Tyr) rs753060251 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.5092C>T (p.Leu1698=) rs763196924 0.00002
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=) rs755570293 0.00002
NM_001378120.1(MBD5):c.675G>A (p.Ala225=) rs775582219 0.00002
NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu) rs766179352 0.00002
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) rs767317924 0.00002
NM_001378120.1(MBD5):c.720G>A (p.Arg240=) rs727503997 0.00002
NM_001378120.1(MBD5):c.917A>G (p.Lys306Arg) rs1278028464 0.00002
NM_001378120.1(MBD5):c.936A>C (p.Lys312Asn) rs142815487 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.109G>A (p.Val37Ile) rs747911147 0.00001
NM_001378120.1(MBD5):c.1104A>C (p.Pro368=) rs756273559 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.1128T>C (p.Ile376=) rs1680695737 0.00001
NM_001378120.1(MBD5):c.113+14A>G rs759575165 0.00001
NM_001378120.1(MBD5):c.114-19T>G rs745877259 0.00001
NM_001378120.1(MBD5):c.1147T>C (p.Ser383Pro) rs1553518530 0.00001
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe) rs1230879827 0.00001
NM_001378120.1(MBD5):c.1180G>A (p.Val394Ile) rs1411951713 0.00001
NM_001378120.1(MBD5):c.1194T>G (p.Pro398=) rs1559086405 0.00001
NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile) rs535000990 0.00001
NM_001378120.1(MBD5):c.1245T>C (p.Gly415=) rs1483172185 0.00001
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu) rs142661175 0.00001
NM_001378120.1(MBD5):c.1266T>C (p.His422=) rs371026811 0.00001
NM_001378120.1(MBD5):c.1269A>T (p.Val423=) rs746576866 0.00001
NM_001378120.1(MBD5):c.1326C>T (p.Pro442=) rs190279556 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.1468C>G (p.Pro490Ala) rs1165270808 0.00001
NM_001378120.1(MBD5):c.1509A>G (p.Ser503=) rs1465502500 0.00001
NM_001378120.1(MBD5):c.1524T>A (p.Pro508=) rs773043343 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1602T>C (p.Asn534=) rs768359954 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.171T>C (p.Asp57=) rs1707126434 0.00001
NM_001378120.1(MBD5):c.1793A>G (p.Asn598Ser) rs774519380 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.1884C>G (p.Ala628=) rs906942779 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.195A>G (p.Glu65=) rs1480609393 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.1969C>A (p.Arg657=) rs112334672 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.2004T>C (p.Ser668=) rs1451790598 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.2097T>C (p.Ser699=) rs1171949031 0.00001
NM_001378120.1(MBD5):c.211C>T (p.Pro71Ser) rs770840755 0.00001
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp) rs886054909 0.00001
NM_001378120.1(MBD5):c.216+15A>G rs759004187 0.00001
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser) rs747127657 0.00001
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe) rs1438163020 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.2277G>A (p.Val759=) rs750839601 0.00001
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser) rs1294270968 0.00001
NM_001378120.1(MBD5):c.2295C>T (p.Asn765=) rs752044751 0.00001
NM_001378120.1(MBD5):c.2304T>C (p.Phe768=) rs115385046 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.24C>T (p.Asp8=) rs751181406 0.00001
NM_001378120.1(MBD5):c.2514A>C (p.Glu838Asp) rs1216163190 0.00001
NM_001378120.1(MBD5):c.2519-7A>G rs200412749 0.00001
NM_001378120.1(MBD5):c.2520C>T (p.Gly840=) rs201649831 0.00001
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp) rs756065878 0.00001
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro) rs144805912 0.00001
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met) rs756787235 0.00001
NM_001378120.1(MBD5):c.2553G>A (p.Ala851=) rs559879867 0.00001
NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile) rs780490918 0.00001
NM_001378120.1(MBD5):c.2604C>T (p.Gly868=) rs762047043 0.00001
NM_001378120.1(MBD5):c.2647C>T (p.Leu883=) rs1378904136 0.00001
NM_001378120.1(MBD5):c.264A>G (p.Glu88=) rs1385855105 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser) rs778516851 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.3545-10C>G rs1574479997 0.00001
NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=) rs968871300 0.00001
NM_001378120.1(MBD5):c.3651A>G (p.Gln1217=) rs777597807 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.3753+18G>A rs768223778 0.00001
NM_001378120.1(MBD5):c.3754-6T>C rs149825755 0.00001
NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys) rs758196921 0.00001
NM_001378120.1(MBD5):c.3762G>A (p.Met1254Ile) rs373991655 0.00001
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile) rs1553520435 0.00001
NM_001378120.1(MBD5):c.384C>T (p.Pro128=) rs753595652 0.00001
NM_001378120.1(MBD5):c.3874T>C (p.Leu1292=) rs959320564 0.00001
NM_001378120.1(MBD5):c.3882G>A (p.Pro1294=) rs752275705 0.00001
NM_001378120.1(MBD5):c.3891C>T (p.Asp1297=) rs1359066274 0.00001
NM_001378120.1(MBD5):c.3897T>C (p.Ser1299=) rs1377963134 0.00001
NM_001378120.1(MBD5):c.3918T>C (p.Asp1306=) rs1004247100 0.00001
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile) rs973326943 0.00001
NM_001378120.1(MBD5):c.3927T>A (p.Val1309=) rs1574484414 0.00001
NM_001378120.1(MBD5):c.3930G>T (p.Val1310=) rs776127313 0.00001
NM_001378120.1(MBD5):c.3965A>G (p.Tyr1322Cys) rs1234231456 0.00001
NM_001378120.1(MBD5):c.396A>G (p.Thr132=) rs778891789 0.00001
NM_001378120.1(MBD5):c.397+14T>G rs376866744 0.00001
NM_001378120.1(MBD5):c.3979G>A (p.Asp1327Asn) rs752647756 0.00001
NM_001378120.1(MBD5):c.398-12C>T rs556768118 0.00001
NM_001378120.1(MBD5):c.4029T>C (p.Ser1343=) rs1316838361 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.4106T>C (p.Leu1369Pro) rs1406103855 0.00001
NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn) rs1037868450 0.00001
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) rs763106823 0.00001
NM_001378120.1(MBD5):c.4124C>T (p.Ala1375Val) rs767306594 0.00001
NM_001378120.1(MBD5):c.4131T>C (p.Ile1377=) rs1489981026 0.00001
NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg) rs760629404 0.00001
NM_001378120.1(MBD5):c.4134T>C (p.His1378=) rs1051689897 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.4193G>A (p.Arg1398Gln) rs727503999 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) rs1014000010 0.00001
NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys) rs571209967 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.4318C>A (p.Arg1440=) rs978179634 0.00001
NM_001378120.1(MBD5):c.4335C>T (p.Tyr1445=) rs368825815 0.00001
NM_001378120.1(MBD5):c.437G>T (p.Arg146Ile) rs1411318062 0.00001
NM_001378120.1(MBD5):c.4396A>G (p.Asn1466Asp) rs778221567 0.00001
NM_001378120.1(MBD5):c.4417C>G (p.Leu1473Val) rs1400713495 0.00001
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val) rs746105686 0.00001
NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr) rs142913108 0.00001
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu) rs773267074 0.00001
NM_001378120.1(MBD5):c.4467G>T (p.Gly1489=) rs376625886 0.00001
NM_001378120.1(MBD5):c.4592G>T (p.Ser1531Ile) rs750493021 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.4626G>A (p.Lys1542=) rs1467670256 0.00001
NM_001378120.1(MBD5):c.4648C>A (p.Gln1550Lys) rs764472472 0.00001
NM_001378120.1(MBD5):c.4671T>C (p.Ser1557=) rs765702142 0.00001
NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile) rs749436847 0.00001
NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=) rs1470745744 0.00001
NM_001378120.1(MBD5):c.4730G>A (p.Ser1577Asn) rs755214586 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=) rs147744781 0.00001
NM_001378120.1(MBD5):c.4820A>T (p.Glu1607Val) rs1470442862 0.00001
NM_001378120.1(MBD5):c.4827A>C (p.Ile1609=) rs768275565 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.4923C>T (p.Asp1641=) rs747736779 0.00001
NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile) rs770196931 0.00001
NM_001378120.1(MBD5):c.4929C>T (p.His1643=) rs773406626 0.00001
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys) rs577955398 0.00001
NM_001378120.1(MBD5):c.4963G>A (p.Val1655Met) rs957554797 0.00001
NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=) rs761003936 0.00001
NM_001378120.1(MBD5):c.5014C>T (p.Arg1672Cys) rs767034398 0.00001
NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His) rs150519311 0.00001
NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln) rs750291645 0.00001
NM_001378120.1(MBD5):c.502T>C (p.Phe168Leu) rs1225184691 0.00001
NM_001378120.1(MBD5):c.5036+6C>T rs372049573 0.00001
NM_001378120.1(MBD5):c.5113-10T>G rs775307238 0.00001
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys) rs534850589 0.00001
NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=) rs1057522299 0.00001
NM_001378120.1(MBD5):c.5179A>G (p.Arg1727Gly) rs1243468520 0.00001
NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr) rs773716719 0.00001
NM_001378120.1(MBD5):c.549A>G (p.Val183=) rs1327901967 0.00001
NM_001378120.1(MBD5):c.573A>G (p.Gln191=) rs188689135 0.00001
NM_001378120.1(MBD5):c.57A>G (p.Ile19Met) rs757256547 0.00001
NM_001378120.1(MBD5):c.580C>A (p.Leu194Ile) rs767622325 0.00001
NM_001378120.1(MBD5):c.588T>C (p.Pro196=) rs373675091 0.00001
NM_001378120.1(MBD5):c.607T>C (p.Leu203=) rs766270027 0.00001
NM_001378120.1(MBD5):c.60A>G (p.Gln20=) rs1057522537 0.00001
NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys) rs777516937 0.00001
NM_001378120.1(MBD5):c.664C>T (p.Pro222Ser) rs772393394 0.00001
NM_001378120.1(MBD5):c.677C>T (p.Ser226Leu) rs1680672960 0.00001
NM_001378120.1(MBD5):c.682G>A (p.Gly228Ser) rs1321017970 0.00001
NM_001378120.1(MBD5):c.693A>T (p.Ile231=) rs1016661590 0.00001
NM_001378120.1(MBD5):c.742G>C (p.Asp248His) rs753529014 0.00001
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser) rs772659870 0.00001
NM_001378120.1(MBD5):c.798T>A (p.Ile266=) rs1208664164 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
NM_001378120.1(MBD5):c.974G>A (p.Arg325Gln) rs374866920 0.00001
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
MBD5, THR157GLNFSTER4
NC_000002.11:g.(?_149216308)_(149270530_?)dup
NC_000002.11:g.(?_149216328)_(149221508_?)dup
NC_000002.11:g.(?_149216328)_(149228050_?)del
NC_000002.11:g.(?_149216328)_(149270510_?)dup
NC_000002.11:g.(?_149267619)_(149267714_?)dup
NC_000002.12:g.(?_148458739)_(148463939_?)del
NC_000002.12:g.(?_148458739)_(148512961_?)del
NC_000002.12:g.(?_148458759)_(148512941_?)del
NG_017003.3:g.262835_474705del
NM_001378120.1(MBD5):c.1000del (p.Gln334fs) rs1574459612
NM_001378120.1(MBD5):c.1007C>G (p.Pro336Arg)
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.101T>A (p.Val34Glu)
NM_001378120.1(MBD5):c.1021C>A (p.Pro341Thr)
NM_001378120.1(MBD5):c.1023A>C (p.Pro341=)
NM_001378120.1(MBD5):c.1023_1024delinsGA (p.Pro342Thr)
NM_001378120.1(MBD5):c.1025C>A (p.Pro342His) rs1406381561
NM_001378120.1(MBD5):c.1025dup (p.Ser343fs) rs1553518511
NM_001378120.1(MBD5):c.1035T>C (p.Ala345=) rs2105628565
NM_001378120.1(MBD5):c.1036C>A (p.Leu346Ile)
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe) rs1201462027
NM_001378120.1(MBD5):c.1041G>A (p.Gln347=)
NM_001378120.1(MBD5):c.1041G>T (p.Gln347His) rs746751148
NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu)
NM_001378120.1(MBD5):c.1053A>G (p.Leu351=)
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_001378120.1(MBD5):c.1072C>T (p.Leu358Phe)
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.1084G>T (p.Asp362Tyr)
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.1116C>T (p.Asn372=)
NM_001378120.1(MBD5):c.1117C>G (p.Pro373Ala) rs2105629390
NM_001378120.1(MBD5):c.1119T>C (p.Pro373=) rs1574459848
NM_001378120.1(MBD5):c.1119del (p.Val374fs) rs1680695228
NM_001378120.1(MBD5):c.113+5G>A
NM_001378120.1(MBD5):c.113+8C>A rs886054908
NM_001378120.1(MBD5):c.113+8C>T
NM_001378120.1(MBD5):c.113+9T>C
NM_001378120.1(MBD5):c.113+9T>G rs1313785203
NM_001378120.1(MBD5):c.113+9TTA[2]
NM_001378120.1(MBD5):c.1130A>G (p.Asn377Ser) rs2105629613
NM_001378120.1(MBD5):c.1138A>G (p.Ser380Gly) rs1680696075
NM_001378120.1(MBD5):c.114-20T>G
NM_001378120.1(MBD5):c.114-2A>T rs1574451881
NM_001378120.1(MBD5):c.1149A>G (p.Ser383=)
NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp)
NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser)
NM_001378120.1(MBD5):c.1155C>T (p.Val385=)
NM_001378120.1(MBD5):c.1163A>G (p.Gln388Arg)
NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser)
NM_001378120.1(MBD5):c.1170T>C (p.Pro390=)
NM_001378120.1(MBD5):c.1185C>T (p.Ser395=)
NM_001378120.1(MBD5):c.1188del (p.Met396fs) rs2105630210
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.1228C>T (p.Pro410Ser)
NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)
NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr)
NM_001378120.1(MBD5):c.1240C>T (p.Pro414Ser)
NM_001378120.1(MBD5):c.1246C>T (p.His416Tyr)
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) rs1250224277
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.1250T>G (p.Met417Arg)
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.1260G>C (p.Gly420=) rs2105631059
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.1278T>C (p.Val426=)
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.1311T>A (p.Ser437=) rs1574460166
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.1338G>A (p.Met446Ile)
NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr)
NM_001378120.1(MBD5):c.1343C>T (p.Thr448Ile)
NM_001378120.1(MBD5):c.1344T>C (p.Thr448=)
NM_001378120.1(MBD5):c.1356G>A (p.Arg452=)
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr) rs2105632032
NM_001378120.1(MBD5):c.1365A>G (p.Ala455=)
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>A (p.Ser460Ter) rs878910680
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.1382G>T (p.Arg461Leu)
NM_001378120.1(MBD5):c.1386A>G (p.Ser462=) rs2105632499
NM_001378120.1(MBD5):c.1388C>A (p.Ser463Tyr) rs2105632518
NM_001378120.1(MBD5):c.138C>T (p.Cys46=)
NM_001378120.1(MBD5):c.1392C>G (p.Ser464=)
NM_001378120.1(MBD5):c.1394C>T (p.Thr465Ile)
NM_001378120.1(MBD5):c.1398A>T (p.Ser466=)
NM_001378120.1(MBD5):c.1406A>C (p.His469Pro) rs766571687
NM_001378120.1(MBD5):c.1407T>C (p.His469=) rs1365232702
NM_001378120.1(MBD5):c.1408G>A (p.Gly470Arg)
NM_001378120.1(MBD5):c.1413T>C (p.Asn471=)
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.1438C>T (p.Gln480Ter)
NM_001378120.1(MBD5):c.143del (p.Glu48fs) rs2105571301
NM_001378120.1(MBD5):c.1441G>C (p.Ala481Pro)
NM_001378120.1(MBD5):c.1443C>G (p.Ala481=)
NM_001378120.1(MBD5):c.1443C>T (p.Ala481=)
NM_001378120.1(MBD5):c.1449del (p.Ser484fs) rs2105633124
NM_001378120.1(MBD5):c.1450A>G (p.Ser484Gly)
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.1462G>C (p.Val488Leu) 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.1476_1496del (p.Ser495_Arg501del) rs1680712835
NM_001378120.1(MBD5):c.1477_1485del (p.490PRS[1])
NM_001378120.1(MBD5):c.1484CAA[1] (p.Thr496del) rs1680713005
NM_001378120.1(MBD5):c.1499_1500dup (p.Arg501fs) rs2105633619
NM_001378120.1(MBD5):c.14A>G (p.Lys5Arg)
NM_001378120.1(MBD5):c.14_15del (p.Lys5fs)
NM_001378120.1(MBD5):c.1503G>A (p.Arg501=)
NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)
NM_001378120.1(MBD5):c.150del (p.Thr52fs) rs398122412
NM_001378120.1(MBD5):c.1520G>A (p.Ser507Asn)
NM_001378120.1(MBD5):c.1528A>G (p.Thr510Ala) rs762417251
NM_001378120.1(MBD5):c.1539T>C (p.Asp513=)
NM_001378120.1(MBD5):c.1544A>G (p.His515Arg)
NM_001378120.1(MBD5):c.1551G>A (p.Gln517=) rs751801483
NM_001378120.1(MBD5):c.1551G>C (p.Gln517His)
NM_001378120.1(MBD5):c.1560T>G (p.Asp520Glu) rs113472052
NM_001378120.1(MBD5):c.1563C>T (p.Ile521=) rs2105634281
NM_001378120.1(MBD5):c.156A>G (p.Thr52=) rs796958008
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_001378120.1(MBD5):c.1578T>A (p.Ile526=) rs2105634428
NM_001378120.1(MBD5):c.1583G>A (p.Gly528Glu) rs1300246516
NM_001378120.1(MBD5):c.1588A>C (p.Ser530Arg)
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423
NM_001378120.1(MBD5):c.1590T>C (p.Ser530=)
NM_001378120.1(MBD5):c.1593T>C (p.Asn531=)
NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala)
NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)
NM_001378120.1(MBD5):c.1613G>C (p.Ser538Thr)
NM_001378120.1(MBD5):c.1627A>C (p.Thr543Pro) rs1414607857
NM_001378120.1(MBD5):c.162G>C (p.Leu54=)
NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys) rs1553518618
NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp)
NM_001378120.1(MBD5):c.1645A>T (p.Ser549Cys) rs796052710
NM_001378120.1(MBD5):c.1646G>A (p.Ser549Asn) rs2105635382
NM_001378120.1(MBD5):c.1648del (p.Ser550fs) rs2105635449
NM_001378120.1(MBD5):c.1663C>G (p.Pro555Ala) rs1422887607
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.1674G>A (p.Leu558=)
NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu)
NM_001378120.1(MBD5):c.1677A>G (p.Gly559=)
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile) rs1574460777
NM_001378120.1(MBD5):c.1682C>T (p.Pro561Leu) rs1680723459
NM_001378120.1(MBD5):c.1695C>A (p.Ile565=)
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.1710T>C (p.Asn570=)
NM_001378120.1(MBD5):c.1713T>G (p.Ala571=) rs1436943242
NM_001378120.1(MBD5):c.1718C>T (p.Ser573Phe) rs540723139
NM_001378120.1(MBD5):c.1729A>G (p.Ser577Gly)
NM_001378120.1(MBD5):c.1730G>A (p.Ser577Asn)
NM_001378120.1(MBD5):c.1732A>G (p.Ser578Gly)
NM_001378120.1(MBD5):c.1735T>C (p.Leu579=) rs1229800294
NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter) rs1559087186
NM_001378120.1(MBD5):c.1766C>A (p.Ala589Glu)
NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg)
NM_001378120.1(MBD5):c.1773A>G (p.Gln591=)
NM_001378120.1(MBD5):c.1783G>T (p.Ala595Ser) rs1302791673
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser)
NM_001378120.1(MBD5):c.1818A>G (p.Gly606=) rs2105636898
NM_001378120.1(MBD5):c.1828G>T (p.Gly610Cys) rs142495834
NM_001378120.1(MBD5):c.1829G>C (p.Gly610Ala)
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.1842T>C (p.Thr614=) rs1553518662
NM_001378120.1(MBD5):c.1842_1865del (p.Glu615_Thr622del) rs780715275
NM_001378120.1(MBD5):c.1843G>A (p.Glu615Lys)
NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)
NM_001378120.1(MBD5):c.1862A>T (p.Asn621Ile)
NM_001378120.1(MBD5):c.1865C>T (p.Thr622Ile) rs2105637430
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.1872C>T (p.Phe624=) rs540529414
NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu)
NM_001378120.1(MBD5):c.1879A>G (p.Thr627Ala) rs779256872
NM_001378120.1(MBD5):c.188dup (p.Glu65fs)
NM_001378120.1(MBD5):c.1890G>T (p.Met630Ile) rs1475773218
NM_001378120.1(MBD5):c.1891C>G (p.Leu631Val)
NM_001378120.1(MBD5):c.1892T>C (p.Leu631Pro)
NM_001378120.1(MBD5):c.189C>T (p.Gly63=) rs1707127066
NM_001378120.1(MBD5):c.18G>A (p.Glu6=)
NM_001378120.1(MBD5):c.1910G>A (p.Gly637Glu)
NM_001378120.1(MBD5):c.1911G>A (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.1913A>G (p.Gln638Arg) rs1680733017
NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser)
NM_001378120.1(MBD5):c.1941G>A (p.Lys647=) rs2105638169
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.1966T>C (p.Leu656=)
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly) rs112334672
NM_001378120.1(MBD5):c.196dup (p.Cys66fs)
NM_001378120.1(MBD5):c.1974A>G (p.Lys658=) rs2105638538
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.1989T>C (p.Pro663=) rs2105638695
NM_001378120.1(MBD5):c.198T>C (p.Cys66=) rs2105571649
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.1A>G (p.Met1Val)
NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn)
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg)
NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile)
NM_001378120.1(MBD5):c.2035G>A (p.Ala679Thr)
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.2075G>A (p.Gly692Asp)
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.2108A>G (p.Gln703Arg) rs1553518707
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2113del (p.Leu705fs) rs2105639771
NM_001378120.1(MBD5):c.2115A>G (p.Leu705=) rs1680742184
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.2121T>C (p.Ser707=) rs377427161
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.2160C>G (p.Thr720=) rs1680743868
NM_001378120.1(MBD5):c.2163G>T (p.Pro721=) rs1241365384
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.217-18A>G
NM_001378120.1(MBD5):c.217-1G>C rs1707171202
NM_001378120.1(MBD5):c.2170G>A (p.Gly724Arg) rs1553518717
NM_001378120.1(MBD5):c.2172G>A (p.Gly724=)
NM_001378120.1(MBD5):c.2175C>G (p.Ala725=)
NM_001378120.1(MBD5):c.2177C>T (p.Ser726Leu) rs781532539
NM_001378120.1(MBD5):c.2179A>C (p.Asn727His)
NM_001378120.1(MBD5):c.2187T>G (p.Ala729=) rs561323622
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.2257C>T (p.Pro753Ser)
NM_001378120.1(MBD5):c.2258C>A (p.Pro753His)
NM_001378120.1(MBD5):c.2268G>A (p.Gly756=)
NM_001378120.1(MBD5):c.2271A>G (p.Glu757=) rs2105641334
NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr) rs1060501150
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg) rs2105641515
NM_001378120.1(MBD5):c.2296A>G (p.Thr766Ala)
NM_001378120.1(MBD5):c.2297C>G (p.Thr766Ser)
NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs) rs1060501153
NM_001378120.1(MBD5):c.2301C>T (p.Asn767=) rs886054910
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
NM_001378120.1(MBD5):c.2312G>A (p.Ser771Asn)
NM_001378120.1(MBD5):c.2321del (p.Pro774fs) rs1553518752
NM_001378120.1(MBD5):c.2322A>G (p.Pro774=)
NM_001378120.1(MBD5):c.2350A>G (p.Ile784Val)
NM_001378120.1(MBD5):c.2356C>T (p.Gln786Ter) rs2105642195
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.2370C>A (p.Ser790Arg) rs376037852
NM_001378120.1(MBD5):c.2373G>A (p.Gly791=) rs772842301
NM_001378120.1(MBD5):c.2373G>C (p.Gly791=)
NM_001378120.1(MBD5):c.2376C>T (p.Asn792=)
NM_001378120.1(MBD5):c.2377T>C (p.Cys793Arg)
NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg) rs2105642407
NM_001378120.1(MBD5):c.2381G>T (p.Gly794Val)
NM_001378120.1(MBD5):c.2384T>C (p.Met795Thr) rs1446479503
NM_001378120.1(MBD5):c.2388C>T (p.Leu796=)
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.2396C>G (p.Ser799Trp) rs759990854
NM_001378120.1(MBD5):c.2397G>A (p.Ser799=) rs2105642607
NM_001378120.1(MBD5):c.23A>G (p.Asp8Gly)
NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)
NM_001378120.1(MBD5):c.2415T>C (p.Asn805=)
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) rs894958571
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg) rs1060501152
NM_001378120.1(MBD5):c.2426C>T (p.Pro809Leu)
NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser) rs754126406
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter) rs1057524832
NM_001378120.1(MBD5):c.2439G>A (p.Gln813=)
NM_001378120.1(MBD5):c.2442A>G (p.Ser814=) rs2105643173
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>C (p.Ile824=) rs1574462288
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.2508T>C (p.Ser836=)
NM_001378120.1(MBD5):c.2518+16A>G
NM_001378120.1(MBD5):c.2518+6G>A
NM_001378120.1(MBD5):c.2518+7T>A
NM_001378120.1(MBD5):c.2519-10T>C
NM_001378120.1(MBD5):c.2519-10_2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-16T>G
NM_001378120.1(MBD5):c.2519-8C>T rs761957089
NM_001378120.1(MBD5):c.2519-8del rs1467351680
NM_001378120.1(MBD5):c.2519-9del rs5835195
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.2526A>G (p.Ser842=)
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.2530C>T (p.Pro844Ser) rs1283171716
NM_001378120.1(MBD5):c.2539T>C (p.Ser847Pro) rs2105071445
NM_001378120.1(MBD5):c.253A>C (p.Arg85=)
NM_001378120.1(MBD5):c.2541C>A (p.Ser847=) rs1574476656
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.2552C>T (p.Ala851Val) rs144557654
NM_001378120.1(MBD5):c.2558C>A (p.Thr853Asn) rs780490918
NM_001378120.1(MBD5):c.2559C>A (p.Thr853=) rs1681216580
NM_001378120.1(MBD5):c.2565C>G (p.His855Gln) rs2105071741
NM_001378120.1(MBD5):c.2565C>T (p.His855=) rs2105071741
NM_001378120.1(MBD5):c.2567C>T (p.Pro856Leu)
NM_001378120.1(MBD5):c.2577A>G (p.Thr859=) rs2105071848
NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del)
NM_001378120.1(MBD5):c.2585C>T (p.Thr862Ile) rs1681217722
NM_001378120.1(MBD5):c.2586A>C (p.Thr862=) rs1681217813
NM_001378120.1(MBD5):c.2586A>G (p.Thr862=)
NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs) rs1559094754
NM_001378120.1(MBD5):c.2595T>A (p.Leu865=) rs2105072069
NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu)
NM_001378120.1(MBD5):c.2598A>G (p.Gln866=)
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>A (p.Val869Ile) rs116207524
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.2623G>A (p.Ala875Thr)
NM_001378120.1(MBD5):c.2623G>T (p.Ala875Ser)
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_001378120.1(MBD5):c.2633del (p.Pro878fs) rs1553519853
NM_001378120.1(MBD5):c.2636T>G (p.Leu879Arg)
NM_001378120.1(MBD5):c.2637G>C (p.Leu879=) rs2105072411
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.2646G>A (p.Gln882=)
NM_001378120.1(MBD5):c.2648T>C (p.Leu883Pro) rs1681220458
NM_001378120.1(MBD5):c.2649A>G (p.Leu883=) rs1681220561
NM_001378120.1(MBD5):c.2653A>G (p.Ile885Val) rs2105072567
NM_001378120.1(MBD5):c.2674G>C (p.Val892Leu)
NM_001378120.1(MBD5):c.2685G>A (p.Glu895=) rs2105072801
NM_001378120.1(MBD5):c.2686C>A (p.His896Asn)
NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr) rs778516851
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.2724C>G (p.Asn908Lys) rs779824788
NM_001378120.1(MBD5):c.2725C>T (p.His909Tyr)
NM_001378120.1(MBD5):c.2727T>A (p.His909Gln) rs1681223550
NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val)
NM_001378120.1(MBD5):c.2730T>C (p.Leu910=)
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.2740T>C (p.Leu914=)
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.2772C>T (p.Ile924=)
NM_001378120.1(MBD5):c.2773T>A (p.Ser925Thr)
NM_001378120.1(MBD5):c.2778G>A (p.Leu926=) rs760520878
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
NM_001378120.1(MBD5):c.27A>T (p.Gly9=)
NM_001378120.1(MBD5):c.2814A>G (p.Leu938=)
NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe)
NM_001378120.1(MBD5):c.2827C>G (p.Gln943Glu)
NM_001378120.1(MBD5):c.2829G>A (p.Gln943=)
NM_001378120.1(MBD5):c.2829del (p.Gln943fs)
NM_001378120.1(MBD5):c.2830C>G (p.Pro944Ala)
NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg)
NM_001378120.1(MBD5):c.2856G>A (p.Glu952=)
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
NM_001378120.1(MBD5):c.2861A>G (p.Asn954Ser)
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.30G>A (p.Gly10=)
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)
NM_001378120.1(MBD5):c.321T>G (p.Ile107Met) rs1553517962
NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly)
NM_001378120.1(MBD5):c.332C>T (p.Thr111Ile) rs1707174997
NM_001378120.1(MBD5):c.337C>A (p.His113Asn)
NM_001378120.1(MBD5):c.337C>T (p.His113Tyr)
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs) rs794727928
NM_001378120.1(MBD5):c.346dup (p.Met116fs)
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp) rs765892446
NM_001378120.1(MBD5):c.3545-11del
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.3555A>G (p.Ser1185=)
NM_001378120.1(MBD5):c.3558A>C (p.Ser1186=)
NM_001378120.1(MBD5):c.3564C>A (p.Asn1188Lys) rs1559096615
NM_001378120.1(MBD5):c.3566A>G (p.Asn1189Ser)
NM_001378120.1(MBD5):c.3567T>C (p.Asn1189=)
NM_001378120.1(MBD5):c.3572del (p.Thr1190_Leu1191insTer) rs2105093302
NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys)
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys) rs1200329763
NM_001378120.1(MBD5):c.3588G>C (p.Leu1196=)
NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn)
NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile) rs750939401
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=) rs2105093530
NM_001378120.1(MBD5):c.3598C>T (p.Gln1200Ter)
NM_001378120.1(MBD5):c.3598del (p.Gln1200fs)
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=) rs138058889
NM_001378120.1(MBD5):c.3607T>C (p.Leu1203=) rs1574480161
NM_001378120.1(MBD5):c.360T>G (p.His120Gln)
NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser)
NM_001378120.1(MBD5):c.3624G>A (p.Met1208Ile)
NM_001378120.1(MBD5):c.362C>T (p.Pro121Leu)
NM_001378120.1(MBD5):c.3636T>C (p.Asn1212=)
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His) rs1465735521
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.3657C>T (p.Leu1219=)
NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe)
NM_001378120.1(MBD5):c.3660G>A (p.Gln1220=)
NM_001378120.1(MBD5):c.3663G>A (p.Gly1221=) rs774912000
NM_001378120.1(MBD5):c.3666C>T (p.Tyr1222=) rs781114483
NM_001378120.1(MBD5):c.3675C>G (p.Leu1225=) rs1681323012
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.3697A>G (p.Thr1233Ala)
NM_001378120.1(MBD5):c.3699A>G (p.Thr1233=) rs2105094289
NM_001378120.1(MBD5):c.3707G>T (p.Cys1236Phe) rs2105094326
NM_001378120.1(MBD5):c.3714T>C (p.Ala1238=)
NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)
NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser)
NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs)
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.3747C>T (p.Asn1249=)
NM_001378120.1(MBD5):c.3753+11C>A
NM_001378120.1(MBD5):c.3753+15T>A rs1057524750
NM_001378120.1(MBD5):c.3754-15_3754-12del
NM_001378120.1(MBD5):c.3754-20T>C
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.3768A>G (p.Glu1256=) rs1681443066
NM_001378120.1(MBD5):c.3769del (p.Asp1257fs) rs2105123510
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.3786C>G (p.Asn1262Lys) rs771343592
NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=) rs771343592
NM_001378120.1(MBD5):c.3790A>T (p.Arg1264Ter) rs1450731543
NM_001378120.1(MBD5):c.3791G>C (p.Arg1264Thr)
NM_001378120.1(MBD5):c.3793A>C (p.Ile1265Leu)
NM_001378120.1(MBD5):c.3793A>G (p.Ile1265Val) rs774513612
NM_001378120.1(MBD5):c.3797G>T (p.Ser1266Ile) rs2105123807
NM_001378120.1(MBD5):c.379del (p.Ser127fs) rs1553517984
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile) rs1681444814
NM_001378120.1(MBD5):c.3803A>C (p.Gln1268Pro) rs1559098476
NM_001378120.1(MBD5):c.3805C>T (p.Pro1269Ser)
NM_001378120.1(MBD5):c.380G>A (p.Ser127Asn)
NM_001378120.1(MBD5):c.3811C>A (p.Leu1271Ile)
NM_001378120.1(MBD5):c.3812T>C (p.Leu1271Pro) rs963277503
NM_001378120.1(MBD5):c.3813C>T (p.Leu1271=)
NM_001378120.1(MBD5):c.3822_3840del (p.Pro1275fs)
NM_001378120.1(MBD5):c.3827A>C (p.Glu1276Ala)
NM_001378120.1(MBD5):c.3828G>A (p.Glu1276=)
NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs) rs2105124073
NM_001378120.1(MBD5):c.3835A>G (p.Asn1279Asp)
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=) rs772658882
NM_001378120.1(MBD5):c.3840T>C (p.Thr1280=) rs1681446139
NM_001378120.1(MBD5):c.3856C>G (p.Gln1286Glu)
NM_001378120.1(MBD5):c.3864A>C (p.Thr1288=)
NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln)
NM_001378120.1(MBD5):c.3894A>C (p.Pro1298=)
NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp)
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys) rs796052715
NM_001378120.1(MBD5):c.3906A>G (p.Gln1302=)
NM_001378120.1(MBD5):c.3907C>T (p.Gln1303Ter) rs2105124818
NM_001378120.1(MBD5):c.3917A>G (p.Asp1306Gly)
NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val)
NM_001378120.1(MBD5):c.3920G>T (p.Gly1307Val) rs2105124889
NM_001378120.1(MBD5):c.3924C>A (p.Leu1308=)
NM_001378120.1(MBD5):c.3925G>T (p.Val1309Phe)
NM_001378120.1(MBD5):c.3929T>G (p.Val1310Gly)
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.3936C>T (p.Gly1312=)
NM_001378120.1(MBD5):c.3938C>G (p.Pro1313Arg)
NM_001378120.1(MBD5):c.3940G>C (p.Gly1314Arg)
NM_001378120.1(MBD5):c.3944A>G (p.Asp1315Gly)
NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala) rs1707177360
NM_001378120.1(MBD5):c.3959C>T (p.Ala1320Val) rs1479424507
NM_001378120.1(MBD5):c.3963T>C (p.Ile1321=) rs2105125356
NM_001378120.1(MBD5):c.397+10A>G
NM_001378120.1(MBD5):c.397+10A>T rs2105582849
NM_001378120.1(MBD5):c.397+1G>A rs1553517991
NM_001378120.1(MBD5):c.397+2T>C
NM_001378120.1(MBD5):c.397+8A>G
NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp)
NM_001378120.1(MBD5):c.398-11T>C
NM_001378120.1(MBD5):c.398-18T>C
NM_001378120.1(MBD5):c.398-3C>T
NM_001378120.1(MBD5):c.398-5A>G
NM_001378120.1(MBD5):c.398-9T>C
NM_001378120.1(MBD5):c.3985G>A (p.Ala1329Thr)
NM_001378120.1(MBD5):c.3988A>G (p.Ser1330Gly) rs753239849
NM_001378120.1(MBD5):c.398A>G (p.Asn133Ser)
NM_001378120.1(MBD5):c.3991A>T (p.Lys1331Ter)
NM_001378120.1(MBD5):c.4002G>A (p.Gln1334=)
NM_001378120.1(MBD5):c.4002G>T (p.Gln1334His) rs1681454577
NM_001378120.1(MBD5):c.4013C>T (p.Thr1338Ile)
NM_001378120.1(MBD5):c.4017T>C (p.Thr1339=) rs2105125745
NM_001378120.1(MBD5):c.4020A>G (p.Ala1340=) rs1273991401
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
NM_001378120.1(MBD5):c.4032A>C (p.Thr1344=)
NM_001378120.1(MBD5):c.4043G>A (p.Ser1348Asn)
NM_001378120.1(MBD5):c.4048A>G (p.Ile1350Val)
NM_001378120.1(MBD5):c.4051C>T (p.Pro1351Ser) rs886054912
NM_001378120.1(MBD5):c.4055C>T (p.Ala1352Val) rs1574484641
NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg)
NM_001378120.1(MBD5):c.4083C>T (p.Ala1361=) rs2105126139
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.4098A>G (p.Pro1366=) rs2105126312
NM_001378120.1(MBD5):c.4115C>T (p.Ala1372Val) rs1363547537
NM_001378120.1(MBD5):c.4116T>C (p.Ala1372=)
NM_001378120.1(MBD5):c.4122T>A (p.Ser1374Arg)
NM_001378120.1(MBD5):c.4122T>C (p.Ser1374=) rs2105126495
NM_001378120.1(MBD5):c.4126G>A (p.Val1376Ile)
NM_001378120.1(MBD5):c.4127T>A (p.Val1376Asp) rs1227323118
NM_001378120.1(MBD5):c.4127T>C (p.Val1376Ala)
NM_001378120.1(MBD5):c.4134T>G (p.His1378Gln) rs1051689897
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.4159C>A (p.His1387Asn) rs2105127038
NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)
NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg)
NM_001378120.1(MBD5):c.4170G>A (p.Arg1390=) rs1312513915
NM_001378120.1(MBD5):c.417T>C (p.Pro139=)
NM_001378120.1(MBD5):c.4183A>C (p.Arg1395=)
NM_001378120.1(MBD5):c.4184G>C (p.Arg1395Thr)
NM_001378120.1(MBD5):c.4185A>C (p.Arg1395Ser)
NM_001378120.1(MBD5):c.4187G>A (p.Gly1396Glu)
NM_001378120.1(MBD5):c.4188G>A (p.Gly1396=) rs1443120715
NM_001378120.1(MBD5):c.4194G>A (p.Arg1398=) rs2105127403
NM_001378120.1(MBD5):c.4204A>C (p.Asn1402His)
NM_001378120.1(MBD5):c.4209A>G (p.Leu1403=)
NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu)
NM_001378120.1(MBD5):c.421C>T (p.Arg141Trp)
NM_001378120.1(MBD5):c.4230C>T (p.Asn1410=)
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.4240G>A (p.Gly1414Arg)
NM_001378120.1(MBD5):c.4241G>A (p.Gly1414Glu)
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.4254C>A (p.Phe1418Leu)
NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn)
NM_001378120.1(MBD5):c.4268G>T (p.Cys1423Phe) rs1486727511
NM_001378120.1(MBD5):c.4275A>C (p.Thr1425=)
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.4286A>G (p.Gln1429Arg)
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.4293C>T (p.Asp1431=)
NM_001378120.1(MBD5):c.4294G>C (p.Gly1432Arg) rs201334086
NM_001378120.1(MBD5):c.4296G>A (p.Gly1432=)
NM_001378120.1(MBD5):c.4296G>C (p.Gly1432=) rs746043647
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.4318C>T (p.Arg1440Ter) rs978179634
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.4326G>A (p.Arg1442=) rs766189023
NM_001378120.1(MBD5):c.4327T>C (p.Trp1443Arg)
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) rs1681469923
NM_001378120.1(MBD5):c.4336G>A (p.Glu1446Lys)
NM_001378120.1(MBD5):c.4347A>G (p.Leu1449=) rs2105128674
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp) rs1197271060
NM_001378120.1(MBD5):c.4359C>G (p.Gly1453=)
NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly)
NM_001378120.1(MBD5):c.4384G>A (p.Glu1462Lys)
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.43G>A (p.Gly15Ser)
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter) rs886041003
NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu)
NM_001378120.1(MBD5):c.4410G>A (p.Leu1470=)
NM_001378120.1(MBD5):c.4414T>C (p.Phe1472Leu)
NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=) rs748173028
NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter) rs1681473896
NM_001378120.1(MBD5):c.442G>A (p.Val148Ile)
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.4441C>T (p.Leu1481=)
NM_001378120.1(MBD5):c.4446A>G (p.Leu1482=)
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.4464A>G (p.Pro1488=) rs2105129699
NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu)
NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu) rs370231736
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser) rs762922278
NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys)
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) rs1165120864
NM_001378120.1(MBD5):c.4494G>A (p.Arg1498=)
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.4511G>T (p.Arg1504Ile)
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val) rs898923113
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.4543A>G (p.Asn1515Asp)
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=) rs1681478303
NM_001378120.1(MBD5):c.457C>T (p.His153Tyr) rs2105622546
NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=) rs1055672536
NM_001378120.1(MBD5):c.4585C>T (p.Arg1529Ter) rs2105130509
NM_001378120.1(MBD5):c.4589A>G (p.Gln1530Arg) rs1681479202
NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=) rs1057521419
NM_001378120.1(MBD5):c.4591A>C (p.Ser1531Arg) rs781154198
NM_001378120.1(MBD5):c.4591A>G (p.Ser1531Gly) rs781154198
NM_001378120.1(MBD5):c.4596G>A (p.Arg1532=) rs2105130693
NM_001378120.1(MBD5):c.459T>C (p.His153=)
NM_001378120.1(MBD5):c.460G>A (p.Glu154Lys)
NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser)
NM_001378120.1(MBD5):c.4623A>G (p.Ala1541=) rs1574485595
NM_001378120.1(MBD5):c.4634T>C (p.Leu1545Pro) rs1474107442
NM_001378120.1(MBD5):c.4637T>C (p.Val1546Ala)
NM_001378120.1(MBD5):c.4641A>G (p.Leu1547=)
NM_001378120.1(MBD5):c.4642G>A (p.Glu1548Lys)
NM_001378120.1(MBD5):c.4644G>A (p.Glu1548=)
NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys)
NM_001378120.1(MBD5):c.4647G>A (p.Glu1549=)
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.469_476del (p.Thr157fs) rs2105622677
NM_001378120.1(MBD5):c.4703A>G (p.His1568Arg) rs999944646
NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln)
NM_001378120.1(MBD5):c.4704_4728dup (p.Ser1577delinsLeuGlnTrpArgLeuTer)
NM_001378120.1(MBD5):c.4709A>G (p.Asn1570Ser)
NM_001378120.1(MBD5):c.4718T>G (p.Phe1573Cys) rs1406467148
NM_001378120.1(MBD5):c.4722T>C (p.Asn1574=)
NM_001378120.1(MBD5):c.4729del (p.Ser1577fs) rs2105131625
NM_001378120.1(MBD5):c.4733T>G (p.Val1578Gly) rs1681484970
NM_001378120.1(MBD5):c.4734del (p.Asn1579fs)
NM_001378120.1(MBD5):c.4739G>T (p.Gly1580Val)
NM_001378120.1(MBD5):c.4741T>C (p.Cys1581Arg) rs1396512077
NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=) rs1057523104
NM_001378120.1(MBD5):c.4753C>G (p.Pro1585Ala)
NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs)
NM_001378120.1(MBD5):c.4769G>A (p.Ser1590Asn) rs2105131988
NM_001378120.1(MBD5):c.4769G>C (p.Ser1590Thr)
NM_001378120.1(MBD5):c.477T>C (p.Ser159=) rs2105622763
NM_001378120.1(MBD5):c.478G>A (p.Val160Ile)
NM_001378120.1(MBD5):c.4800A>G (p.Pro1600=) rs1553520655
NM_001378120.1(MBD5):c.4823T>G (p.Leu1608Trp)
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.4844C>T (p.Thr1615Met)
NM_001378120.1(MBD5):c.4845G>A (p.Thr1615=) rs759890387
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.4868G>A (p.Trp1623Ter)
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
NM_001378120.1(MBD5):c.4878C>T (p.Ile1626=)
NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg)
NM_001378120.1(MBD5):c.4889C>A (p.Thr1630Asn) rs2105133001
NM_001378120.1(MBD5):c.4890T>C (p.Thr1630=)
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>G (p.Asn1644Ser)
NM_001378120.1(MBD5):c.4931A>T (p.Asn1644Ile)
NM_001378120.1(MBD5):c.4934C>A (p.Ser1645Ter) rs1559099927
NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4946del (p.Ser1649fs)
NM_001378120.1(MBD5):c.4950C>G (p.Pro1650=) rs148394839
NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=) rs148394839
NM_001378120.1(MBD5):c.4962+6C>A rs2105133581
NM_001378120.1(MBD5):c.4962+7C>T
NM_001378120.1(MBD5):c.4963-2A>T rs2105225632
NM_001378120.1(MBD5):c.4963-5C>T
NM_001378120.1(MBD5):c.4966G>C (p.Glu1656Gln)
NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg)
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=) rs1057521520
NM_001378120.1(MBD5):c.4996G>A (p.Gly1666Ser)
NM_001378120.1(MBD5):c.5007C>T (p.Ala1669=) rs2105226035
NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=) rs1057523158
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp) rs1393532031
NM_001378120.1(MBD5):c.5021G>C (p.Arg1674Pro)
NM_001378120.1(MBD5):c.5025A>G (p.Lys1675=) rs1574497842
NM_001378120.1(MBD5):c.5033G>T (p.Arg1678Ile) rs749723920
NM_001378120.1(MBD5):c.5036+8del
NM_001378120.1(MBD5):c.5036A>G (p.Lys1679Arg)
NM_001378120.1(MBD5):c.5037-11A>G
NM_001378120.1(MBD5):c.5037-12C>T
NM_001378120.1(MBD5):c.5037-19T>G
NM_001378120.1(MBD5):c.5037-2A>G
NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser)
NM_001378120.1(MBD5):c.5049A>C (p.Leu1683=)
NM_001378120.1(MBD5):c.504C>A (p.Phe168Leu) rs2105622881
NM_001378120.1(MBD5):c.5050A>T (p.Asn1684Tyr)
NM_001378120.1(MBD5):c.5059T>G (p.Leu1687Val)
NM_001378120.1(MBD5):c.5066C>T (p.Ala1689Val)
NM_001378120.1(MBD5):c.5071_5073dup (p.Ile1691_His1692insIle)
NM_001378120.1(MBD5):c.5073T>A (p.Ile1691=)
NM_001378120.1(MBD5):c.5079G>A (p.Glu1693=)
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile) rs1682172933
NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly)
NM_001378120.1(MBD5):c.5089G>A (p.Glu1697Lys)
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.5109G>A (p.Gly1703=)
NM_001378120.1(MBD5):c.5110A>G (p.Thr1704Ala)
NM_001378120.1(MBD5):c.5112+11T>G rs2105278869
NM_001378120.1(MBD5):c.5113-16A>G
NM_001378120.1(MBD5):c.5113-18C>T
NM_001378120.1(MBD5):c.5113-6T>G rs2105294854
NM_001378120.1(MBD5):c.5121A>T (p.Gln1707His)
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.5151C>T (p.Pro1717=)
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu) rs1682261070
NM_001378120.1(MBD5):c.5154del (p.Lys1719fs) rs1060501151
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.516T>C (p.Ile172=)
NM_001378120.1(MBD5):c.5175C>G (p.Ile1725Met)
NM_001378120.1(MBD5):c.5181A>G (p.Arg1727=)
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.528T>C (p.Asn176=) rs1574458750
NM_001378120.1(MBD5):c.531C>T (p.Ala177=) rs2105623085
NM_001378120.1(MBD5):c.535_547del (p.Gly179fs) rs1680665652
NM_001378120.1(MBD5):c.537A>G (p.Gly179=) rs1204024575
NM_001378120.1(MBD5):c.539G>A (p.Arg180Lys) rs1680666184
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.541C>T (p.Leu181=)
NM_001378120.1(MBD5):c.543A>G (p.Leu181=)
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.589G>T (p.Val197Phe) rs760892595
NM_001378120.1(MBD5):c.591C>G (p.Val197=)
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter) rs1293936199
NM_001378120.1(MBD5):c.598dup (p.Arg200fs)
NM_001378120.1(MBD5):c.599G>T (p.Arg200Leu) rs149278000
NM_001378120.1(MBD5):c.601C>A (p.Gln201Lys)
NM_001378120.1(MBD5):c.603G>A (p.Gln201=)
NM_001378120.1(MBD5):c.606A>T (p.Arg202Ser) rs1553518446
NM_001378120.1(MBD5):c.611G>A (p.Gly204Asp) rs2105624053
NM_001378120.1(MBD5):c.61G>A (p.Val21Ile)
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.633A>G (p.Lys211=)
NM_001378120.1(MBD5):c.638C>T (p.Pro213Leu) rs755861220
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.648C>A (p.Gly216=) rs1188063685
NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser)
NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg)
NM_001378120.1(MBD5):c.654T>C (p.His218=) rs1353208243
NM_001378120.1(MBD5):c.655G>A (p.Gly219Arg)
NM_001378120.1(MBD5):c.666C>T (p.Pro222=) rs1349108004
NM_001378120.1(MBD5):c.66T>C (p.Pro22=)
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser) rs1680672685
NM_001378120.1(MBD5):c.674C>T (p.Ala225Val) rs1680672762
NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys)
NM_001378120.1(MBD5):c.696T>C (p.Tyr232=)
NM_001378120.1(MBD5):c.698G>A (p.Gly233Glu) rs1680673882
NM_001378120.1(MBD5):c.698del (p.Gly233fs) rs1680673822
NM_001378120.1(MBD5):c.706T>C (p.Ser236Pro)
NM_001378120.1(MBD5):c.706T>G (p.Ser236Ala) rs1680674275
NM_001378120.1(MBD5):c.707C>G (p.Ser236Ter) rs766179352
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys) rs2105537073
NM_001378120.1(MBD5):c.710_725del (p.Ile237fs) rs2105625178
NM_001378120.1(MBD5):c.728C>T (p.Pro243Leu)
NM_001378120.1(MBD5):c.728del (p.Pro243fs) rs1680676671
NM_001378120.1(MBD5):c.742G>A (p.Asp248Asn)
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
NM_001378120.1(MBD5):c.753AAG[1] (p.Arg252del)
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.761A>G (p.Asn254Ser)
NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter)
NM_001378120.1(MBD5):c.774T>C (p.His258=)
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.798T>C (p.Ile266=) rs1208664164
NM_001378120.1(MBD5):c.800A>G (p.His267Arg) rs796052708
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr) rs768720064
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.815C>G (p.Pro272Arg)
NM_001378120.1(MBD5):c.817C>G (p.Leu273Val) rs776894242
NM_001378120.1(MBD5):c.81T>C (p.Arg27=) rs746075256
NM_001378120.1(MBD5):c.825A>G (p.Pro275=)
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.830C>G (p.Ser277Ter) rs1029755113
NM_001378120.1(MBD5):c.835A>T (p.Met279Leu)
NM_001378120.1(MBD5):c.840A>G (p.Leu280=) rs2105626382
NM_001378120.1(MBD5):c.845G>A (p.Gly282Asp) rs759201974
NM_001378120.1(MBD5):c.856C>A (p.Gln286Lys)
NM_001378120.1(MBD5):c.857A>G (p.Gln286Arg)
NM_001378120.1(MBD5):c.864C>G (p.Ser288=)
NM_001378120.1(MBD5):c.869C>G (p.Ala290Gly) rs1559085941
NM_001378120.1(MBD5):c.871A>G (p.Met291Val) rs1680681539
NM_001378120.1(MBD5):c.881G>A (p.Arg294Lys)
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.890_891del (p.Ile297fs) rs796052719
NM_001378120.1(MBD5):c.893C>T (p.Pro298Leu)
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val) rs794727807
NM_001378120.1(MBD5):c.900C>T (p.Ser300=) rs2105626982
NM_001378120.1(MBD5):c.912T>A (p.Thr304=)
NM_001378120.1(MBD5):c.920G>A (p.Ser307Asn)
NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln)
NM_001378120.1(MBD5):c.924A>C (p.Pro308=) rs778385281
NM_001378120.1(MBD5):c.936dup (p.Pro313fs) rs2105627349
NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)
NM_001378120.1(MBD5):c.939A>G (p.Pro313=) rs781250091
NM_001378120.1(MBD5):c.941T>C (p.Met314Thr) rs1168673827
NM_001378120.1(MBD5):c.942G>A (p.Met314Ile)
NM_001378120.1(MBD5):c.947del (p.Asn316fs) rs1680684706
NM_001378120.1(MBD5):c.948T>A (p.Asn316Lys)
NM_001378120.1(MBD5):c.955A>G (p.Thr319Ala)
NM_001378120.1(MBD5):c.968T>C (p.Ile323Thr) rs2105627859
NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg)
NM_001378120.1(MBD5):c.979A>G (p.Met327Val) rs1680685772
NM_001378120.1(MBD5):c.987C>T (p.His329=) rs1574459598
NM_001378120.1(MBD5):c.989A>G (p.His330Arg) rs750043178
NM_018328.4:c.-925+35305_-557+13791del

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