NM_001378120.1(MBD5):c.3545-51G>A
|
rs2121344
|
0.57748
|
NM_001378120.1(MBD5):c.-924-89A>C
|
rs12465610
|
0.30343
|
NM_001378120.1(MBD5):c.*200A>G
|
rs16828708
|
0.28537
|
NM_001378120.1(MBD5):c.-557+247T>C
|
rs2602352
|
0.26966
|
NM_001378120.1(MBD5):c.-557+197A>T
|
rs35177340
|
0.25018
|
NM_001378120.1(MBD5):c.113+221A>G
|
rs10928397
|
0.19908
|
NM_001378120.1(MBD5):c.114-168T>G
|
rs13402768
|
0.13753
|
NM_001378120.1(MBD5):c.3754-48dup
|
rs111476224
|
0.09545
|
NM_001378120.1(MBD5):c.398-286C>T
|
rs56200529
|
0.07330
|
NM_001378120.1(MBD5):c.4963-56G>A
|
rs73003524
|
0.07035
|
NM_001378120.1(MBD5):c.4963-57C>T
|
rs80229097
|
0.03895
|
NM_001378120.1(MBD5):c.4963-136A>G
|
rs115609480
|
0.03662
|
NM_001378120.1(MBD5):c.4962+250A>C
|
rs7574808
|
0.02409
|
NM_001378120.1(MBD5):c.113+166_113+167insG
|
rs111721579
|
0.01441
|
NM_001378120.1(MBD5):c.397+172T>C
|
rs139794670
|
0.00705
|
NM_001378120.1(MBD5):c.1596A>G (p.Val532=)
|
rs114611333
|
0.00588
|
NM_001378120.1(MBD5):c.-557+104G>A
|
rs79508062
|
0.00577
|
NM_001378120.1(MBD5):c.397+150G>A
|
rs116117972
|
0.00545
|
NM_001378120.1(MBD5):c.398-22C>A
|
rs192677180
|
0.00476
|
NM_001378120.1(MBD5):c.297A>G (p.Leu99=)
|
rs77213206
|
0.00431
|
NM_001378120.1(MBD5):c.-829A>G
|
rs186186684
|
0.00397
|
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.2903C>A (p.Ala968Asp)
|
rs72861124
|
0.00294
|
NM_001378120.1(MBD5):c.3545-43G>A
|
rs200344212
|
0.00283
|
NM_001378120.1(MBD5):c.3207C>T (p.Asn1069=)
|
rs181919984
|
0.00242
|
NM_001378120.1(MBD5):c.3169C>T (p.Pro1057Ser)
|
rs188449443
|
0.00240
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
NM_001378120.1(MBD5):c.3112A>G (p.Ser1038Gly)
|
rs562128787
|
0.00123
|
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.216+48T>A
|
rs111722958
|
0.00073
|
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.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.*50A>G
|
rs113386382
|
0.00038
|
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.-933G>A
|
rs992673818
|
0.00029
|
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.2518+47A>G
|
rs371331451
|
0.00026
|
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.2279A>G (p.His760Arg)
|
rs763275881
|
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.3677A>C (p.Gln1226Pro)
|
rs761395486
|
0.00008
|
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu)
|
rs114359726
|
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.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.4139G>A (p.Arg1380Gln)
|
rs368605084
|
0.00006
|
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.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00005
|
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.2711G>A (p.Ser904Asn)
|
rs398124344
|
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.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)
|
rs748142226
|
0.00004
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
NM_001378120.1(MBD5):c.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.1198G>A (p.Val400Ile)
|
rs377568191
|
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.1849C>T (p.His617Tyr)
|
rs367876435
|
0.00003
|
NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg)
|
rs774227790
|
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.2543T>G (p.Ile848Arg)
|
rs184415910
|
0.00003
|
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr)
|
rs769330358
|
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.4047C>T (p.Pro1349=)
|
rs367766748
|
0.00003
|
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)
|
rs200245855
|
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.709A>G (p.Ile237Val)
|
rs751251720
|
0.00003
|
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420
|
0.00003
|
NM_001378120.1(MBD5):c.961A>G (p.Met321Val)
|
rs369869865
|
0.00003
|
NM_001378120.1(MBD5):c.*5G>C
|
rs1682262158
|
0.00002
|
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp)
|
rs757922781
|
0.00002
|
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=)
|
rs761655364
|
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.2751C>G (p.Ser917Arg)
|
rs935799783
|
0.00002
|
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro)
|
rs564759063
|
0.00002
|
NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser)
|
rs754193314
|
0.00002
|
NM_001378120.1(MBD5):c.3771T>C (p.Asp1257=)
|
rs780699486
|
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.476C>T (p.Ser159Phe)
|
rs780774076
|
0.00002
|
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=)
|
rs755570293
|
0.00002
|
NM_001378120.1(MBD5):c.720G>A (p.Arg240=)
|
rs727503997
|
0.00002
|
NM_001378120.1(MBD5):c.-924-3T>C
|
rs1293921044
|
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.113+14A>G
|
rs759575165
|
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.1232C>T (p.Thr411Ile)
|
rs535000990
|
0.00001
|
NM_001378120.1(MBD5):c.1269A>T (p.Val423=)
|
rs746576866
|
0.00001
|
NM_001378120.1(MBD5):c.1341G>A (p.Gly447=)
|
rs886044445
|
0.00001
|
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg)
|
rs766571687
|
0.00001
|
NM_001378120.1(MBD5):c.1618G>C (p.Ala540Pro)
|
rs1169180874
|
0.00001
|
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg)
|
rs116235310
|
0.00001
|
NM_001378120.1(MBD5):c.1784C>T (p.Ala595Val)
|
rs771275834
|
0.00001
|
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser)
|
rs142495834
|
0.00001
|
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp)
|
rs750882049
|
0.00001
|
NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg)
|
rs398124342
|
0.00001
|
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr)
|
rs576930680
|
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.2140C>G (p.His714Asp)
|
rs886054909
|
0.00001
|
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe)
|
rs1438163020
|
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.2311A>G (p.Ser771Gly)
|
rs777686665
|
0.00001
|
NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser)
|
rs768601611
|
0.00001
|
NM_001378120.1(MBD5):c.24C>T (p.Asp8=)
|
rs751181406
|
0.00001
|
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp)
|
rs756065878
|
0.00001
|
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met)
|
rs756787235
|
0.00001
|
NM_001378120.1(MBD5):c.2658G>A (p.Gly886=)
|
rs1182648375
|
0.00001
|
NM_001378120.1(MBD5):c.2762C>T (p.Ser921Phe)
|
rs545034063
|
0.00001
|
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg)
|
rs377062993
|
0.00001
|
NM_001378120.1(MBD5):c.328G>A (p.Ala110Thr)
|
rs1265044011
|
0.00001
|
NM_001378120.1(MBD5):c.3545-10C>G
|
rs1574479997
|
0.00001
|
NM_001378120.1(MBD5):c.3731C>A (p.Ala1244Asp)
|
rs1057522910
|
0.00001
|
NM_001378120.1(MBD5):c.4060A>G (p.Ser1354Gly)
|
rs796052717
|
0.00001
|
NM_001378120.1(MBD5):c.4106T>C (p.Leu1369Pro)
|
rs1406103855
|
0.00001
|
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn)
|
rs763106823
|
0.00001
|
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser)
|
rs1472737578
|
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.4231G>A (p.Glu1411Lys)
|
rs571209967
|
0.00001
|
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn)
|
rs749348330
|
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.4466G>A (p.Gly1489Glu)
|
rs773267074
|
0.00001
|
NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg)
|
rs747948310
|
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.4731C>T (p.Ser1577=)
|
rs777735514
|
0.00001
|
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln)
|
rs763299719
|
0.00001
|
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys)
|
rs577955398
|
0.00001
|
NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=)
|
rs761003936
|
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.5109G>T (p.Gly1703=)
|
rs144358466
|
0.00001
|
NM_001378120.1(MBD5):c.5112+52G>A
|
rs371559673
|
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.520T>A (p.Ser174Thr)
|
rs773716719
|
0.00001
|
NM_001378120.1(MBD5):c.573A>G (p.Gln191=)
|
rs188689135
|
0.00001
|
NM_001378120.1(MBD5):c.588T>C (p.Pro196=)
|
rs373675091
|
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.740C>T (p.Pro247Leu)
|
rs796052707
|
0.00001
|
NM_001378120.1(MBD5):c.801C>G (p.His267Gln)
|
rs747135508
|
0.00001
|
GRCh37/hg19 2q23.1(chr2:148781910-148929896)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148789732-148901245)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148789732-148965615)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148808568-148812188)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148808568-148814430)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148814430-148861205)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148815797-148859188)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:148820550-148914178)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148825739-148914178)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148826079-148959158)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148840142-148963444)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148851963-148929896)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148851964-148954778)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148860592-148974600)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:148862629-148922187)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148883626-149209179)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148893783-149050963)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148913951-148963444)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148932571-148969209)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148938816-149039696)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148954841-149100457)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:148995224-149294556)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149059294-149118330)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149065242-149069742)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149065395-149069742)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149094014-149166807)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149109237-149178974)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149131384-149162368)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149166807-149366862)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149170115-149202550)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149198831-149204775)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149199613-149202176)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149201266-149202550)x0
|
|
|
GRCh37/hg19 2q23.1(chr2:149204841-149244732)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149204841-149266085)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149206411-149239689)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149206411-149242773)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149206411-149244732)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149206821-149266085)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149216328-149260078)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149248413-149250399)x1
|
|
|
NM_001378120.1(MBD5):c.-660A>T
|
rs888498386
|
|
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
|
|
|
NM_001378120.1(MBD5):c.1027T>C (p.Ser343Pro)
|
|
|
NM_001378120.1(MBD5):c.1039C>T (p.Gln347Ter)
|
rs1559086213
|
|
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe)
|
rs1201462027
|
|
NM_001378120.1(MBD5):c.1087C>T (p.Pro363Ser)
|
|
|
NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu)
|
rs794727974
|
|
NM_001378120.1(MBD5):c.1114_1115dup (p.Asn372fs)
|
rs1553518527
|
|
NM_001378120.1(MBD5):c.114-9T>G
|
|
|
NM_001378120.1(MBD5):c.1165G>A (p.Val389Ile)
|
rs2105629940
|
|
NM_001378120.1(MBD5):c.1171A>C (p.Met391Leu)
|
|
|
NM_001378120.1(MBD5):c.1172T>G (p.Met391Arg)
|
|
|
NM_001378120.1(MBD5):c.1221C>T (p.Leu407=)
|
|
|
NM_001378120.1(MBD5):c.1227G>C (p.Leu409Phe)
|
|
|
NM_001378120.1(MBD5):c.1229C>A (p.Pro410Gln)
|
rs2105630503
|
|
NM_001378120.1(MBD5):c.1241C>T (p.Pro414Leu)
|
|
|
NM_001378120.1(MBD5):c.1252A>T (p.Asn418Tyr)
|
|
|
NM_001378120.1(MBD5):c.1276G>C (p.Val426Leu)
|
|
|
NM_001378120.1(MBD5):c.1281G>T (p.Gln427His)
|
|
|
NM_001378120.1(MBD5):c.1291T>C (p.Ser431Pro)
|
|
|
NM_001378120.1(MBD5):c.1326dup (p.Val443fs)
|
rs1553518563
|
|
NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu)
|
rs137977565
|
|
NM_001378120.1(MBD5):c.1330C>A (p.His444Asn)
|
rs2105631769
|
|
NM_001378120.1(MBD5):c.1336A>G (p.Met446Val)
|
|
|
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr)
|
rs2105632032
|
|
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu)
|
rs878910680
|
|
NM_001378120.1(MBD5):c.1385C>T (p.Ser462Leu)
|
|
|
NM_001378120.1(MBD5):c.1417A>G (p.Met473Val)
|
rs1064796951
|
|
NM_001378120.1(MBD5):c.1419G>A (p.Met473Ile)
|
rs1057524543
|
|
NM_001378120.1(MBD5):c.1470_1478del (p.490PRS[1])
|
rs1553518587
|
|
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)
|
rs1024254683
|
|
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter)
|
rs1553518593
|
|
NM_001378120.1(MBD5):c.1558G>T (p.Asp520Tyr)
|
|
|
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser)
|
rs727503998
|
|
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn)
|
rs558138423
|
|
NM_001378120.1(MBD5):c.1597C>A (p.Leu533Ile)
|
rs746692198
|
|
NM_001378120.1(MBD5):c.1628C>T (p.Thr543Ile)
|
|
|
NM_001378120.1(MBD5):c.163C>G (p.Leu55Val)
|
rs2105571487
|
|
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile)
|
rs1574460777
|
|
NM_001378120.1(MBD5):c.1708A>G (p.Asn570Asp)
|
rs890777200
|
|
NM_001378120.1(MBD5):c.172G>A (p.Gly58Arg)
|
|
|
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter)
|
rs1559087186
|
|
NM_001378120.1(MBD5):c.1811del (p.Asn604fs)
|
rs1057518567
|
|
NM_001378120.1(MBD5):c.1831A>C (p.Ser611Arg)
|
|
|
NM_001378120.1(MBD5):c.1835_1837delinsTCT (p.Gly612_Asn613delinsValTyr)
|
|
|
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp)
|
rs398124341
|
|
NM_001378120.1(MBD5):c.1855A>G (p.Thr619Ala)
|
|
|
NM_001378120.1(MBD5):c.1909G>A (p.Gly637Arg)
|
rs750882049
|
|
NM_001378120.1(MBD5):c.1936_1937del (p.Arg645_Asp646insTer)
|
rs1574461269
|
|
NM_001378120.1(MBD5):c.1966T>A (p.Leu656Met)
|
|
|
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly)
|
rs112334672
|
|
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.199C>T (p.Pro67Ser)
|
|
|
NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg)
|
rs766104877
|
|
NM_001378120.1(MBD5):c.2000T>G (p.Leu667Trp)
|
rs796052711
|
|
NM_001378120.1(MBD5):c.2025_2028del (p.Met675fs)
|
rs1131691713
|
|
NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala)
|
rs1394309796
|
|
NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu)
|
rs796052721
|
|
NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe)
|
|
|
NM_001378120.1(MBD5):c.2358G>T (p.Gln786His)
|
rs1574462092
|
|
NM_001378120.1(MBD5):c.2413A>C (p.Asn805His)
|
rs796052712
|
|
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala)
|
rs894958571
|
|
NM_001378120.1(MBD5):c.2418C>T (p.Ser806=)
|
rs1574462203
|
|
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg)
|
rs1060501152
|
|
NM_001378120.1(MBD5):c.2431C>A (p.Pro811Thr)
|
rs796052713
|
|
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter)
|
rs1057524832
|
|
NM_001378120.1(MBD5):c.2498A>T (p.Asn833Ile)
|
rs1131691751
|
|
NM_001378120.1(MBD5):c.2518+5G>A
|
|
|
NM_001378120.1(MBD5):c.2519-9del
|
rs5835195
|
|
NM_001378120.1(MBD5):c.2519-9dup
|
rs5835195
|
|
NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del)
|
rs1681214533
|
|
NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu)
|
rs2105071391
|
|
NM_001378120.1(MBD5):c.2545G>A (p.Ala849Thr)
|
|
|
NM_001378120.1(MBD5):c.254_255del (p.Arg85fs)
|
rs1707172225
|
|
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.2567C>T (p.Pro856Leu)
|
|
|
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.2625T>C (p.Ala875=)
|
|
|
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr)
|
rs752535474
|
|
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu)
|
rs151173122
|
|
NM_001378120.1(MBD5):c.266A>G (p.Asp89Gly)
|
|
|
NM_001378120.1(MBD5):c.2674G>C (p.Val892Leu)
|
|
|
NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe)
|
|
|
NM_001378120.1(MBD5):c.275C>G (p.Ala92Gly)
|
rs2105581712
|
|
NM_001378120.1(MBD5):c.2768C>T (p.Pro923Leu)
|
rs2105073568
|
|
NM_001378120.1(MBD5):c.2794C>T (p.His932Tyr)
|
rs1574477133
|
|
NM_001378120.1(MBD5):c.2837C>A (p.Ala946Glu)
|
|
|
NM_001378120.1(MBD5):c.2842G>A (p.Glu948Lys)
|
rs2105074134
|
|
NM_001378120.1(MBD5):c.2979T>C (p.Leu993=)
|
|
|
NM_001378120.1(MBD5):c.3036C>T (p.Ile1012=)
|
|
|
NM_001378120.1(MBD5):c.3043C>A (p.Leu1015Ile)
|
|
|
NM_001378120.1(MBD5):c.3145C>A (p.Leu1049Ile)
|
|
|
NM_001378120.1(MBD5):c.322G>A (p.Ala108Thr)
|
rs989078419
|
|
NM_001378120.1(MBD5):c.3231T>C (p.Asn1077=)
|
|
|
NM_001378120.1(MBD5):c.3288G>A (p.Ser1096=)
|
|
|
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)
|
rs794727928
|
|
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp)
|
rs765892446
|
|
NM_001378120.1(MBD5):c.3545G>A (p.Gly1182Asp)
|
|
|
NM_001378120.1(MBD5):c.3552G>A (p.Met1184Ile)
|
|
|
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys)
|
rs1200329763
|
|
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=)
|
rs138058889
|
|
NM_001378120.1(MBD5):c.361_362del (p.Pro121fs)
|
rs1553517973
|
|
NM_001378120.1(MBD5):c.3629C>T (p.Pro1210Leu)
|
|
|
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His)
|
rs1465735521
|
|
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu)
|
rs1429887811
|
|
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr)
|
rs1435405119
|
|
NM_001378120.1(MBD5):c.3731C>T (p.Ala1244Val)
|
|
|
NM_001378120.1(MBD5):c.3753+3A>G
|
|
|
NM_001378120.1(MBD5):c.3766G>T (p.Glu1256Ter)
|
rs1064796473
|
|
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.3824del (p.Pro1275fs)
|
rs1574484218
|
|
NM_001378120.1(MBD5):c.3851C>T (p.Pro1284Leu)
|
rs761872951
|
|
NM_001378120.1(MBD5):c.3865C>T (p.Pro1289Ser)
|
|
|
NM_001378120.1(MBD5):c.3899T>G (p.Leu1300Arg)
|
rs1473923947
|
|
NM_001378120.1(MBD5):c.3901G>C (p.Gly1301Arg)
|
rs748975545
|
|
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys)
|
rs796052715
|
|
NM_001378120.1(MBD5):c.392G>A (p.Gly131Glu)
|
|
|
NM_001378120.1(MBD5):c.397+1G>A
|
rs1553517991
|
|
NM_001378120.1(MBD5):c.397+5G>C
|
|
|
NM_001378120.1(MBD5):c.4055C>T (p.Ala1352Val)
|
rs1574484641
|
|
NM_001378120.1(MBD5):c.4073C>T (p.Ala1358Val)
|
|
|
NM_001378120.1(MBD5):c.4075T>C (p.Phe1359Leu)
|
rs796052718
|
|
NM_001378120.1(MBD5):c.409G>A (p.Val137Ile)
|
rs752962199
|
|
NM_001378120.1(MBD5):c.4124C>A (p.Ala1375Glu)
|
|
|
NM_001378120.1(MBD5):c.4192C>T (p.Arg1398Trp)
|
rs558876535
|
|
NM_001378120.1(MBD5):c.4229A>G (p.Asn1410Ser)
|
rs1413458459
|
|
NM_001378120.1(MBD5):c.4234G>A (p.Gly1412Arg)
|
rs2105127672
|
|
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val)
|
rs752035001
|
|
NM_001378120.1(MBD5):c.4246G>A (p.Glu1416Lys)
|
rs1681465796
|
|
NM_001378120.1(MBD5):c.4271A>G (p.His1424Arg)
|
rs794727071
|
|
NM_001378120.1(MBD5):c.4304G>A (p.Ser1435Asn)
|
rs794727072
|
|
NM_001378120.1(MBD5):c.4312G>A (p.Gly1438Arg)
|
rs1681468663
|
|
NM_001378120.1(MBD5):c.4318C>T (p.Arg1440Ter)
|
rs978179634
|
|
NM_001378120.1(MBD5):c.4352A>C (p.His1451Pro)
|
|
|
NM_001378120.1(MBD5):c.4360C>T (p.His1454Tyr)
|
|
|
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
|
|
|
NM_001378120.1(MBD5):c.4398dup (p.Val1467fs)
|
rs1553520585
|
|
NM_001378120.1(MBD5):c.4408C>G (p.Leu1470Val)
|
|
|
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)
|
rs886041003
|
|
NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=)
|
rs748173028
|
|
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn)
|
rs2105129435
|
|
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser)
|
rs762922278
|
|
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly)
|
rs1165120864
|
|
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val)
|
rs898923113
|
|
NM_001378120.1(MBD5):c.4535G>T (p.Arg1512Ile)
|
rs1681477641
|
|
NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=)
|
rs1681478303
|
|
NM_001378120.1(MBD5):c.4573G>T (p.Gly1525Trp)
|
rs1258885082
|
|
NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=)
|
rs1055672536
|
|
NM_001378120.1(MBD5):c.4591A>C (p.Ser1531Arg)
|
rs781154198
|
|
NM_001378120.1(MBD5):c.4616G>A (p.Ser1539Asn)
|
|
|
NM_001378120.1(MBD5):c.464G>T (p.Gly155Val)
|
|
|
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn)
|
rs1278585545
|
|
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
|
|
|
NM_001378120.1(MBD5):c.4698C>A (p.Tyr1566Ter)
|
rs1553520624
|
|
NM_001378120.1(MBD5):c.4750A>C (p.Ser1584Arg)
|
|
|
NM_001378120.1(MBD5):c.4755T>C (p.Pro1585=)
|
|
|
NM_001378120.1(MBD5):c.4809dup (p.Ser1604fs)
|
rs1681487356
|
|
NM_001378120.1(MBD5):c.4824G>C (p.Leu1608Phe)
|
|
|
NM_001378120.1(MBD5):c.4837C>T (p.Pro1613Ser)
|
rs773779478
|
|
NM_001378120.1(MBD5):c.4864G>A (p.Val1622Ile)
|
rs758218596
|
|
NM_001378120.1(MBD5):c.4873C>A (p.Gln1625Lys)
|
|
|
NM_001378120.1(MBD5):c.4884A>G (p.Gly1628=)
|
rs1574485944
|
|
NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly)
|
rs796052706
|
|
NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=)
|
rs149419174
|
|
NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=)
|
rs148394839
|
|
NM_001378120.1(MBD5):c.4963-10C>A
|
rs201439677
|
|
NM_001378120.1(MBD5):c.4975A>T (p.Lys1659Ter)
|
rs1553521650
|
|
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=)
|
rs1057521520
|
|
NM_001378120.1(MBD5):c.5037-198dup
|
rs151097491
|
|
NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro)
|
rs1131691294
|
|
NM_001378120.1(MBD5):c.5128C>G (p.Gln1710Glu)
|
rs2105294920
|
|
NM_001378120.1(MBD5):c.5151C>T (p.Pro1717=)
|
|
|
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn)
|
rs1553523408
|
|
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr)
|
rs1481914876
|
|
NM_001378120.1(MBD5):c.5169G>A (p.Arg1723=)
|
rs1574509614
|
|
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
|
|
|
NM_001378120.1(MBD5):c.523T>C (p.Ser175Pro)
|
|
|
NM_001378120.1(MBD5):c.546T>G (p.Tyr182Ter)
|
rs1559085550
|
|
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter)
|
rs1293936199
|
|
NM_001378120.1(MBD5):c.601C>T (p.Gln201Ter)
|
rs200287454
|
|
NM_001378120.1(MBD5):c.606A>G (p.Arg202=)
|
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
NM_001378120.1(MBD5):c.688C>T (p.Gln230Ter)
|
rs1085307859
|
|
NM_001378120.1(MBD5):c.68del (p.Val23fs)
|
rs2105537032
|
|
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys)
|
rs2105537073
|
|
NM_001378120.1(MBD5):c.753AAG[1] (p.Arg252del)
|
|
|
NM_001378120.1(MBD5):c.754del (p.Arg252fs)
|
|
|
NM_001378120.1(MBD5):c.799C>T (p.His267Tyr)
|
|
|
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr)
|
rs768720064
|
|
NM_001378120.1(MBD5):c.80G>A (p.Arg27His)
|
rs1706965994
|
|
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)
|
|
|
NM_001378120.1(MBD5):c.842A>G (p.His281Arg)
|
rs1680680479
|
|
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs)
|
rs796052719
|
|
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val)
|
rs794727807
|
|
NM_001378120.1(MBD5):c.904A>G (p.Thr302Ala)
|
rs483352748
|
|
NM_001378120.1(MBD5):c.923C>T (p.Pro308Leu)
|
|
|
NM_001378120.1(MBD5):c.968T>C (p.Ile323Thr)
|
rs2105627859
|
|
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)
|
rs1553518509
|
|
NM_001378120.1(MBD5):c.992A>C (p.Lys331Thr)
|
|
|
NM_001378120.1(MBD5):c.997C>T (p.Pro333Ser)
|
|
|
NM_018328.5(MBD5):c.1851T>C (p.His617=)
|
rs372533114
|
|