NM_001242896.3(DEPDC5):c.484-43G>C
|
rs138286
|
0.97589
|
NM_001242896.3(DEPDC5):c.1666+214A>C
|
rs5749334
|
0.62803
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
NM_001242896.3(DEPDC5):c.3265-3C>T
|
rs371377906
|
0.00108
|
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg)
|
rs201394709
|
0.00071
|
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)
|
rs202083639
|
0.00049
|
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)
|
rs376744360
|
0.00041
|
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)
|
rs201776005
|
0.00023
|
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
|
rs185576553
|
0.00021
|
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val)
|
rs202226316
|
0.00020
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met)
|
rs201603222
|
0.00019
|
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)
|
rs142540948
|
0.00017
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
NM_001242896.3(DEPDC5):c.3264+13G>A
|
rs377268492
|
0.00010
|
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys)
|
rs750467533
|
0.00008
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser)
|
rs371312649
|
0.00006
|
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)
|
rs200797928
|
0.00006
|
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg)
|
rs754608531
|
0.00005
|
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr)
|
rs768264302
|
0.00004
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00004
|
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr)
|
rs373078069
|
0.00004
|
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val)
|
rs370318709
|
0.00004
|
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val)
|
rs529069517
|
0.00004
|
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)
|
rs578244490
|
0.00003
|
NM_001242896.3(DEPDC5):c.4033+5A>G
|
rs886039270
|
0.00003
|
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln)
|
rs200552561
|
0.00003
|
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met)
|
rs575683658
|
0.00003
|
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro)
|
rs774477005
|
0.00002
|
NM_001242896.3(DEPDC5):c.3002G>A (p.Arg1001His)
|
rs1473617562
|
0.00002
|
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg)
|
rs201765981
|
0.00002
|
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
|
rs749809456
|
0.00002
|
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg)
|
rs760541660
|
0.00002
|
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)
|
rs370985865
|
0.00001
|
NM_001242896.3(DEPDC5):c.1261C>G (p.Pro421Ala)
|
rs764297665
|
0.00001
|
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln)
|
rs886039277
|
0.00001
|
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys)
|
rs747546981
|
0.00001
|
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln)
|
rs886039278
|
0.00001
|
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)
|
rs587777459
|
0.00001
|
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln)
|
rs775080915
|
0.00001
|
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)
|
rs587776973
|
0.00001
|
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)
|
rs768241563
|
0.00001
|
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)
|
rs773004067
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys)
|
rs780652126
|
0.00001
|
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile)
|
rs768456731
|
0.00001
|
NM_001242896.3(DEPDC5):c.279+3A>G
|
rs1211730596
|
0.00001
|
NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr)
|
rs763158282
|
0.00001
|
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His)
|
rs1185705971
|
0.00001
|
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter)
|
rs1315483224
|
0.00001
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg)
|
rs778986487
|
0.00001
|
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln)
|
rs1064795095
|
0.00001
|
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu)
|
rs755174447
|
0.00001
|
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu)
|
rs1397187284
|
0.00001
|
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
|
|
|
NC_000022.10:g.(?_32154512)_(32174174_?)del
|
|
|
NC_000022.10:g.32217598_(32218777_32229900)del
|
|
|
NC_000022.11:g.(?_31754902)_(31815232_?)del
|
|
|
NC_000022.11:g.(?_31754902)_(31906517_?)del
|
|
|
NC_000022.11:g.(?_31758526)_(31758653_?)del
|
|
|
NC_000022.11:g.(?_31764955)_(31766688_?)del
|
|
|
NC_000022.11:g.(?_31804142)_(31810661_?)del
|
|
|
NC_000022.11:g.(?_32200123)_(32200234_?)del
|
|
|
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)
|
rs1601970168
|
|
NM_001242896.3(DEPDC5):c.1081+4A>G
|
rs757563918
|
|
NM_001242896.3(DEPDC5):c.1093_1099dup (p.Val367fs)
|
rs886039258
|
|
NM_001242896.3(DEPDC5):c.1114C>T (p.Gln372Ter)
|
rs886039259
|
|
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs)
|
rs879255234
|
|
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
|
|
|
NM_001242896.3(DEPDC5):c.1143+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.1218-13_1218-10del
|
rs150103661
|
|
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
|
|
|
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)
|
rs757511744
|
|
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro)
|
rs2148665735
|
|
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)
|
rs1568963062
|
|
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
|
|
|
NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs)
|
rs886039244
|
|
NM_001242896.3(DEPDC5):c.1390G>A (p.Ala464Thr)
|
|
|
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs)
|
rs2088167973
|
|
NM_001242896.3(DEPDC5):c.1445+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.147-2A>C
|
rs2148027312
|
|
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)
|
rs1057519107
|
|
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)
|
rs886039261
|
|
NM_001242896.3(DEPDC5):c.1625A>C (p.Gln542Pro)
|
rs886039279
|
|
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr)
|
rs1483477312
|
|
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs)
|
rs2148801285
|
|
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs)
|
rs2148801432
|
|
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter)
|
rs886039263
|
|
NM_001242896.3(DEPDC5):c.1828C>A (p.Leu610Ile)
|
rs2089444709
|
|
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
|
|
|
NM_001242896.3(DEPDC5):c.1891del (p.Gln631fs)
|
|
|
NM_001242896.3(DEPDC5):c.193+1G>A
|
rs886039245
|
|
NM_001242896.3(DEPDC5):c.1936dup (p.Ser646fs)
|
rs1569012755
|
|
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs)
|
rs2082694133
|
|
NM_001242896.3(DEPDC5):c.2105G>A (p.Gly702Asp)
|
|
|
NM_001242896.3(DEPDC5):c.2242A>G (p.Thr748Ala)
|
|
|
NM_001242896.3(DEPDC5):c.2354+2T>A
|
rs2148953712
|
|
NM_001242896.3(DEPDC5):c.2355-2A>G
|
rs797044545
|
|
NM_001242896.3(DEPDC5):c.2390del (p.Gln797fs)
|
rs886039264
|
|
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala)
|
rs1569067813
|
|
NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser)
|
rs1370595536
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val)
|
rs1602349641
|
|
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter)
|
rs578185749
|
|
NM_001242896.3(DEPDC5):c.2633+3G>A
|
rs2091504417
|
|
NM_001242896.3(DEPDC5):c.2633+9T>G
|
rs2091505022
|
|
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile)
|
rs2149008846
|
|
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)
|
rs1569083500
|
|
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
|
|
|
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
|
|
|
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp)
|
rs528863179
|
|
NM_001242896.3(DEPDC5):c.2773A>G (p.Ile925Val)
|
|
|
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val)
|
rs1250427988
|
|
NM_001242896.3(DEPDC5):c.279+1G>A
|
rs886039246
|
|
NM_001242896.3(DEPDC5):c.279+1G>C
|
rs886039246
|
|
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
|
|
|
NM_001242896.3(DEPDC5):c.2958del (p.Phe986fs)
|
|
|
NM_001242896.3(DEPDC5):c.3046C>T (p.Gln1016Ter)
|
rs886039265
|
|
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del)
|
rs2149117083
|
|
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp)
|
rs753608617
|
|
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn)
|
rs375884815
|
|
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
|
|
|
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter)
|
rs587777458
|
|
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
|
|
|
NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys)
|
rs777509933
|
|
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile)
|
rs528786894
|
|
NM_001242896.3(DEPDC5):c.3330+5G>C
|
|
|
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs)
|
rs886039266
|
|
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del)
|
rs2092817019
|
|
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val)
|
rs1419496771
|
|
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly)
|
rs886039280
|
|
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
|
|
|
NM_001242896.3(DEPDC5):c.3564-1G>C
|
|
|
NM_001242896.3(DEPDC5):c.3612C>G (p.Cys1204Trp)
|
rs2092932762
|
|
NM_001242896.3(DEPDC5):c.3696+10C>A
|
rs755463750
|
|
NM_001242896.3(DEPDC5):c.3696+5G>A
|
rs886039267
|
|
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys)
|
rs2092987722
|
|
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)
|
rs886039268
|
|
NM_001242896.3(DEPDC5):c.3803G>A (p.Arg1268Gln)
|
rs886039281
|
|
NM_001242896.3(DEPDC5):c.3875A>C (p.Lys1292Thr)
|
rs1602677961
|
|
NM_001242896.3(DEPDC5):c.3887T>C (p.Val1296Ala)
|
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter)
|
rs1309166815
|
|
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
|
|
|
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu)
|
rs1064795095
|
|
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter)
|
rs587776975
|
|
NM_001242896.3(DEPDC5):c.413+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs)
|
rs1339126434
|
|
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu)
|
rs1555930038
|
|
NM_001242896.3(DEPDC5):c.4187del (p.Ala1396fs)
|
rs886039271
|
|
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter)
|
rs786205703
|
|
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs)
|
rs1601755632
|
|
NM_001242896.3(DEPDC5):c.4309G>T (p.Ala1437Ser)
|
rs1555933951
|
|
NM_001242896.3(DEPDC5):c.435G>A (p.Trp145Ter)
|
rs886039247
|
|
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs)
|
rs2148328679
|
|
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter)
|
rs886039273
|
|
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter)
|
rs1603014708
|
|
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
|
|
|
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter)
|
rs797044546
|
|
NM_001242896.3(DEPDC5):c.4606C>T (p.Gln1536Ter)
|
rs886039274
|
|
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp)
|
rs780294726
|
|
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser)
|
rs1229311796
|
|
NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter)
|
rs2149449539
|
|
NM_001242896.3(DEPDC5):c.4790A>G (p.Lys1597Arg)
|
|
|
NM_001242896.3(DEPDC5):c.484-1G>A
|
rs886039249
|
|
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del)
|
rs587776974
|
|
NM_001242896.3(DEPDC5):c.492_496del (p.Arg165fs)
|
rs886039250
|
|
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter)
|
rs886039251
|
|
NM_001242896.3(DEPDC5):c.530T>G (p.Met177Arg)
|
rs2084718245
|
|
NM_001242896.3(DEPDC5):c.546G>A (p.Trp182Ter)
|
|
|
NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr)
|
rs886039275
|
|
NM_001242896.3(DEPDC5):c.59-1G>C
|
rs886039243
|
|
NM_001242896.3(DEPDC5):c.624+1G>A
|
rs886039252
|
|
NM_001242896.3(DEPDC5):c.640C>G (p.His214Asp)
|
rs886039276
|
|
NM_001242896.3(DEPDC5):c.704C>G (p.Pro235Arg)
|
|
|
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)
|
rs587776976
|
|
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter)
|
rs772872014
|
|
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter)
|
rs886039253
|
|
NM_001242896.3(DEPDC5):c.767+1G>A
|
rs2148514247
|
|
NM_001242896.3(DEPDC5):c.767+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg)
|
rs1601925119
|
|
NM_001242896.3(DEPDC5):c.783_786del (p.Asn261fs)
|
rs886039254
|
|
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu)
|
rs187334123
|
|
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
|
|
|
NM_001242896.3(DEPDC5):c.836T>A (p.Ile279Asn)
|
rs2086399384
|
|
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)
|
rs886039255
|
|
NM_001242896.3(DEPDC5):c.872-3C>T
|
rs2086521058
|
|
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser)
|
rs2086522074
|
|
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
|
|
|
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter)
|
rs886039256
|
|
NM_001242896.3(DEPDC5):c.947-1G>A
|
rs2148633437
|
|
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)
|
rs587776977
|
|
NM_001242896.3(DEPDC5):c.985del (p.Thr329fs)
|
rs886039257
|
|
NM_006922.4(SCN3A):c.5947A>C (p.Lys1983Gln)
|
rs774354894
|
|