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.-556-8T>C
|
rs140968376
|
0.00355
|
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.3743A>G (p.Gln1248Arg)
|
rs143028540
|
0.00068
|
NM_001378120.1(MBD5):c.-831+9dup
|
rs796052705
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
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.4009A>G (p.Ile1337Val)
|
rs115940994
|
0.00028
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu)
|
rs138639760
|
0.00021
|
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.217-16G>C
|
rs377517776
|
0.00011
|
NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=)
|
rs572893308
|
0.00007
|
NM_001378120.1(MBD5):c.-663C>T
|
rs748989182
|
0.00006
|
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.267T>C (p.Asp89=)
|
rs143333632
|
0.00006
|
NM_001378120.1(MBD5):c.1449T>C (p.Ser483=)
|
rs777754350
|
0.00005
|
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His)
|
rs200151142
|
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.2370C>T (p.Ser790=)
|
rs376037852
|
0.00004
|
NM_001378120.1(MBD5):c.2454G>A (p.Thr818=)
|
rs769275989
|
0.00004
|
NM_001378120.1(MBD5):c.327G>A (p.Val109=)
|
rs760258675
|
0.00004
|
NM_001378120.1(MBD5):c.397+20G>A
|
rs201763502
|
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.-826A>G
|
rs1050579064
|
0.00003
|
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala)
|
rs959566693
|
0.00003
|
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro)
|
rs775791197
|
0.00003
|
NM_001378120.1(MBD5):c.1962C>T (p.Asp654=)
|
rs139953766
|
0.00003
|
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg)
|
rs184415910
|
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.943T>G (p.Cys315Gly)
|
rs770076687
|
0.00003
|
NM_001378120.1(MBD5):c.1803C>T (p.Ser601=)
|
rs772321704
|
0.00002
|
NM_001378120.1(MBD5):c.2274C>T (p.Ala758=)
|
rs374820728
|
0.00002
|
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser)
|
rs1358383505
|
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.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.4319G>A (p.Arg1440Gln)
|
rs139042949
|
0.00002
|
NM_001378120.1(MBD5):c.675G>A (p.Ala225=)
|
rs775582219
|
0.00002
|
NM_001378120.1(MBD5):c.*12C>A
|
rs755460512
|
0.00001
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg)
|
rs1370214658
|
0.00001
|
NM_001378120.1(MBD5):c.195A>G (p.Glu65=)
|
rs1480609393
|
0.00001
|
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)
|
rs766104877
|
0.00001
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
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.2213A>G (p.His738Arg)
|
rs528789050
|
0.00001
|
NM_001378120.1(MBD5):c.2519-19T>G
|
rs200810831
|
0.00001
|
NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=)
|
rs968871300
|
0.00001
|
NM_001378120.1(MBD5):c.3754-6T>C
|
rs149825755
|
0.00001
|
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile)
|
rs1553520435
|
0.00001
|
NM_001378120.1(MBD5):c.398-12C>T
|
rs556768118
|
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.4218G>A (p.Gly1406=)
|
rs1014000010
|
0.00001
|
NM_001378120.1(MBD5):c.4626G>A (p.Lys1542=)
|
rs1467670256
|
0.00001
|
NM_001378120.1(MBD5):c.4671T>C (p.Ser1557=)
|
rs765702142
|
0.00001
|
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=)
|
rs147744781
|
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.4962+16T>G
|
rs760744123
|
0.00001
|
NM_001378120.1(MBD5):c.5107G>A (p.Gly1703Arg)
|
rs1057523369
|
0.00001
|
NM_001378120.1(MBD5):c.60A>G (p.Gln20=)
|
rs1057522537
|
0.00001
|
GRCh37/hg19 2q23.1(chr2:148894900-148979973)
|
|
|
GRCh37/hg19 2q23.1(chr2:148897424-148979973)
|
|
|
GRCh37/hg19 2q23.1(chr2:148901160-148979973)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149201266-149239392)
|
|
|
NM_001378120.1(MBD5):c.-557+6C>A
|
rs1553503044
|
|
NM_001378120.1(MBD5):c.-660A>C
|
rs888498386
|
|
NM_001378120.1(MBD5):c.-693A>G
|
rs1057523808
|
|
NM_001378120.1(MBD5):c.-925+18G>A
|
rs1057522564
|
|
NM_001378120.1(MBD5):c.102G>T (p.Val34=)
|
rs1057522320
|
|
NM_001378120.1(MBD5):c.114-16dup
|
rs758376752
|
|
NM_001378120.1(MBD5):c.114-3C>T
|
rs2105571139
|
|
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)
|
rs1024254683
|
|
NM_001378120.1(MBD5):c.1504C>T (p.Pro502Ser)
|
|
|
NM_001378120.1(MBD5):c.156A>G (p.Thr52=)
|
rs796958008
|
|
NM_001378120.1(MBD5):c.1635T>A (p.Ser545=)
|
rs1057522805
|
|
NM_001378120.1(MBD5):c.1762C>T (p.Leu588=)
|
rs1057522502
|
|
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=)
|
rs772127604
|
|
NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser)
|
rs1057520996
|
|
NM_001378120.1(MBD5):c.2127T>A (p.Ser709Arg)
|
rs763873615
|
|
NM_001378120.1(MBD5):c.2127T>C (p.Ser709=)
|
rs763873615
|
|
NM_001378120.1(MBD5):c.2511T>A (p.Ser837=)
|
rs1553518827
|
|
NM_001378120.1(MBD5):c.2518+4T>C
|
rs1553518830
|
|
NM_001378120.1(MBD5):c.2519-9del
|
rs5835195
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378120.1(MBD5):c.354C>T (p.Ala118=)
|
rs1385280226
|
|
NM_001378120.1(MBD5):c.3753+15T>A
|
rs1057524750
|
|
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=)
|
rs772658882
|
|
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu)
|
rs1681467295
|
|
NM_001378120.1(MBD5):c.4401C>G (p.Val1467=)
|
rs144957555
|
|
NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser)
|
rs747940875
|
|
NM_001378120.1(MBD5):c.4556G>A (p.Arg1519Lys)
|
rs1057518363
|
|
NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=)
|
rs1057521419
|
|
NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=)
|
rs1057523104
|
|
NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=)
|
rs149419174
|
|
NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=)
|
rs1057523158
|
|
NM_001378120.1(MBD5):c.5149C>G (p.Pro1717Ala)
|
rs758847157
|
|
NM_001378120.1(MBD5):c.558G>T (p.Leu186=)
|
rs1553518428
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
NM_001378120.1(MBD5):c.678A>T (p.Ser226=)
|
rs1057523021
|
|
NM_001378120.1(MBD5):c.853G>A (p.Val285Ile)
|
|
|
NM_001378120.1(MBD5):c.908T>G (p.Leu303Trp)
|
rs797045689
|
|
NM_001378120.1(MBD5):c.913A>G (p.Thr305Ala)
|
rs1057521255
|
|
NM_001378120.1(MBD5):c.939A>G (p.Pro313=)
|
rs781250091
|
|
NM_018328.5:c.(-925+1_-924-1)_(-831+1_-830-1)del
|
|
|