GRCh37/hg19 2q23.1(chr2:148883626-149209179)x1
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GRCh37/hg19 2q23.1(chr2:148894900-148979973)
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GRCh37/hg19 2q23.1(chr2:148897424-148979973)
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GRCh37/hg19 2q23.1(chr2:148901160-148979973)x1
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GRCh37/hg19 2q23.1(chr2:148957572-149100105)x1
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GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1
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GRCh37/hg19 2q23.1(chr2:149094014-149166807)x1
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GRCh37/hg19 2q23.1(chr2:149201266-149239392)
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GRCh37/hg19 2q23.1(chr2:149216328-149260078)x1
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MBD5, THR157GLNFSTER4
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NC_000002.11:g.(?_149216328)_(149221508_?)dup
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NC_000002.11:g.(?_149216328)_(149228050_?)del
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NC_000002.12:g.(?_148139385)_(148242336_?)del
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NC_000002.12:g.(?_148157591)_(148226058_?)del
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NC_000002.12:g.(?_148158424)_(148226279_?)del
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NC_000002.12:g.(?_148458739)_(148463939_?)del
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NC_000002.12:g.(?_148458739)_(148512961_?)del
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NC_000002.12:g.(?_148458759)_(148512941_?)del
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NG_017003.3:g.262835_474705del
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NM_001378120.1(MBD5):c.1000del (p.Gln334fs)
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rs1574459612
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NM_001378120.1(MBD5):c.1023_1024delinsGA (p.Pro342Thr)
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NM_001378120.1(MBD5):c.1025dup (p.Ser343fs)
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rs1553518511
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NM_001378120.1(MBD5):c.1039C>T (p.Gln347Ter)
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rs1559086213
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NM_001378120.1(MBD5):c.1114_1115dup (p.Asn372fs)
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rs1553518527
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NM_001378120.1(MBD5):c.1188del (p.Met396fs)
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rs2105630210
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NM_001378120.1(MBD5):c.1379C>A (p.Ser460Ter)
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rs878910680
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NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs)
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rs1680708290
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NM_001378120.1(MBD5):c.143del (p.Glu48fs)
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rs2105571301
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NM_001378120.1(MBD5):c.1449del (p.Ser484fs)
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rs2105633124
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NM_001378120.1(MBD5):c.1499_1500dup (p.Arg501fs)
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rs2105633619
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NM_001378120.1(MBD5):c.14_15del (p.Lys5fs)
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NM_001378120.1(MBD5):c.150del (p.Thr52fs)
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rs398122412
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NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter)
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rs1553518593
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NM_001378120.1(MBD5):c.1648del (p.Ser550fs)
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rs2105635449
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NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter)
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rs1559087186
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NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter)
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rs2105571544
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NM_001378120.1(MBD5):c.188dup (p.Glu65fs)
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NM_001378120.1(MBD5):c.196dup (p.Cys66fs)
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NM_001378120.1(MBD5):c.2025_2028del (p.Met675fs)
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rs1131691713
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NM_001378120.1(MBD5):c.2113del (p.Leu705fs)
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rs2105639771
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NM_001378120.1(MBD5):c.217-1G>C
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rs1707171202
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NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs)
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rs1060501153
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NM_001378120.1(MBD5):c.2321del (p.Pro774fs)
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rs1553518752
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NM_001378120.1(MBD5):c.2356C>T (p.Gln786Ter)
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rs2105642195
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NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter)
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rs1057524832
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NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs)
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rs1559094754
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NM_001378120.1(MBD5):c.2633del (p.Pro878fs)
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rs1553519853
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NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)
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rs794727928
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NM_001378120.1(MBD5):c.3572del (p.Thr1190_Leu1191insTer)
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rs2105093302
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NM_001378120.1(MBD5):c.3598C>T (p.Gln1200Ter)
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NM_001378120.1(MBD5):c.3598del (p.Gln1200fs)
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NM_001378120.1(MBD5):c.361_362del (p.Pro121fs)
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rs1553517973
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NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs)
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NM_001378120.1(MBD5):c.3769del (p.Asp1257fs)
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rs2105123510
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NM_001378120.1(MBD5):c.3790A>T (p.Arg1264Ter)
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rs1450731543
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NM_001378120.1(MBD5):c.379del (p.Ser127fs)
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rs1553517984
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NM_001378120.1(MBD5):c.3824del (p.Pro1275fs)
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rs1574484218
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NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs)
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rs2105124073
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NM_001378120.1(MBD5):c.3907C>T (p.Gln1303Ter)
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rs2105124818
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NM_001378120.1(MBD5):c.397+1G>A
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rs1553517991
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NM_001378120.1(MBD5):c.397+2T>C
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NM_001378120.1(MBD5):c.4318C>T (p.Arg1440Ter)
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rs978179634
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NM_001378120.1(MBD5):c.4398dup (p.Val1467fs)
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rs1553520585
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NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)
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rs886041003
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NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter)
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rs1681473896
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NM_001378120.1(MBD5):c.4585C>T (p.Arg1529Ter)
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rs2105130509
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NM_001378120.1(MBD5):c.4648del (p.Gln1550fs)
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rs1681481862
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NM_001378120.1(MBD5):c.469_476del (p.Thr157fs)
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rs2105622677
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NM_001378120.1(MBD5):c.4704_4728dup (p.Ser1577delinsLeuGlnTrpArgLeuTer)
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NM_001378120.1(MBD5):c.4729del (p.Ser1577fs)
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rs2105131625
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NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs)
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NM_001378120.1(MBD5):c.4819G>T (p.Glu1607Ter)
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NM_001378120.1(MBD5):c.4868G>A (p.Trp1623Ter)
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NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
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NM_001378120.1(MBD5):c.4934C>A (p.Ser1645Ter)
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rs1559099927
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NM_001378120.1(MBD5):c.4946del (p.Ser1649fs)
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NM_001378120.1(MBD5):c.5154del (p.Lys1719fs)
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rs1060501151
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NM_001378120.1(MBD5):c.535_547del (p.Gly179fs)
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rs1680665652
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NM_001378120.1(MBD5):c.546T>G (p.Tyr182Ter)
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rs1559085550
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NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter)
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rs1293936199
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NM_001378120.1(MBD5):c.598dup (p.Arg200fs)
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NM_001378120.1(MBD5):c.601C>T (p.Gln201Ter)
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rs200287454
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NM_001378120.1(MBD5):c.688C>T (p.Gln230Ter)
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rs1085307859
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NM_001378120.1(MBD5):c.68del (p.Val23fs)
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rs2105537032
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NM_001378120.1(MBD5):c.698del (p.Gly233fs)
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rs1680673822
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NM_001378120.1(MBD5):c.707C>G (p.Ser236Ter)
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rs766179352
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NM_001378120.1(MBD5):c.710_725del (p.Ile237fs)
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rs2105625178
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NM_001378120.1(MBD5):c.728del (p.Pro243fs)
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rs1680676671
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NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
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NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)
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NM_001378120.1(MBD5):c.75G>A (p.Trp25Ter)
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rs1553517456
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NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter)
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NM_001378120.1(MBD5):c.890_891del (p.Ile297fs)
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rs796052719
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NM_001378120.1(MBD5):c.947del (p.Asn316fs)
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rs1680684706
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NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)
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rs1553518509
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