NM_001242896.3(DEPDC5):c.2072T>C (p.Leu691Pro)
|
rs201464790
|
0.00227
|
NM_001242896.3(DEPDC5):c.2075C>T (p.Ser692Phe)
|
rs199783404
|
0.00227
|
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.1321A>G (p.Thr441Ala)
|
rs199749859
|
0.00162
|
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.2354+28C>T
|
rs192889355
|
0.00071
|
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=)
|
rs142197878
|
0.00063
|
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)
|
rs202083639
|
0.00049
|
NM_001242896.3(DEPDC5):c.2354+48G>A
|
rs199622220
|
0.00045
|
NM_001242896.3(DEPDC5):c.3315C>T (p.Ser1105=)
|
rs371969641
|
0.00037
|
NM_001242896.3(DEPDC5):c.1290C>T (p.Pro430=)
|
rs201202102
|
0.00027
|
NM_001242896.3(DEPDC5):c.363+6_363+7del
|
rs748242785
|
0.00027
|
NM_001242896.3(DEPDC5):c.3021G>T (p.Arg1007=)
|
rs201690337
|
0.00024
|
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.1353C>T (p.Asn451=)
|
rs377336412
|
0.00018
|
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)
|
rs142540948
|
0.00017
|
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala)
|
rs370940232
|
0.00011
|
NM_001242896.3(DEPDC5):c.2784C>T (p.Ala928=)
|
rs201146392
|
0.00011
|
NM_001242896.3(DEPDC5):c.2973G>A (p.Glu991=)
|
rs370906184
|
0.00008
|
NM_001242896.3(DEPDC5):c.609A>G (p.Leu203=)
|
rs200639727
|
0.00007
|
NM_001242896.3(DEPDC5):c.3622G>A (p.Ala1208Thr)
|
rs748662185
|
0.00006
|
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)
|
rs200797928
|
0.00006
|
NM_001242896.3(DEPDC5):c.1082-3T>A
|
rs780547994
|
0.00005
|
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp)
|
rs200020310
|
0.00005
|
NM_001242896.3(DEPDC5):c.1509C>T (p.Ser503=)
|
rs376217381
|
0.00005
|
NM_001242896.3(DEPDC5):c.1226C>G (p.Thr409Arg)
|
rs773704927
|
0.00004
|
NM_001242896.3(DEPDC5):c.2592G>A (p.Thr864=)
|
rs763764167
|
0.00004
|
NM_001242896.3(DEPDC5):c.3624G>A (p.Ala1208=)
|
rs367828073
|
0.00004
|
NM_001242896.3(DEPDC5):c.501G>A (p.Thr167=)
|
rs766360619
|
0.00004
|
NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=)
|
rs374037144
|
0.00003
|
NM_001242896.3(DEPDC5):c.3030C>T (p.Thr1010=)
|
rs548885626
|
0.00003
|
NM_001242896.3(DEPDC5):c.3225C>T (p.Ser1075=)
|
rs757534228
|
0.00003
|
NM_001242896.3(DEPDC5):c.3366C>T (p.Asp1122=)
|
rs375702574
|
0.00003
|
NM_001242896.3(DEPDC5):c.4437G>A (p.Arg1479=)
|
rs1057522689
|
0.00003
|
NM_001242896.3(DEPDC5):c.2286C>T (p.Asp762=)
|
rs200465447
|
0.00002
|
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=)
|
rs577652236
|
0.00002
|
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys)
|
rs747546981
|
0.00001
|
NM_001242896.3(DEPDC5):c.1604T>C (p.Ile535Thr)
|
rs1171016858
|
0.00001
|
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)
|
rs587776973
|
0.00001
|
NM_001242896.3(DEPDC5):c.2019C>G (p.Ser673=)
|
rs372975881
|
0.00001
|
NM_001242896.3(DEPDC5):c.2513G>A (p.Arg838Gln)
|
rs1486633691
|
0.00001
|
NM_001242896.3(DEPDC5):c.2633+7A>G
|
rs1169099672
|
0.00001
|
NM_001242896.3(DEPDC5):c.274C>T (p.Pro92Ser)
|
rs774294197
|
0.00001
|
NM_001242896.3(DEPDC5):c.3097G>T (p.Val1033Leu)
|
rs376313159
|
0.00001
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
NM_001242896.3(DEPDC5):c.3735C>T (p.Gly1245=)
|
rs758804451
|
0.00001
|
NM_001242896.3(DEPDC5):c.4019C>T (p.Ala1340Val)
|
rs369270649
|
0.00001
|
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln)
|
rs1064795095
|
0.00001
|
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=)
|
rs377333936
|
0.00001
|
NM_001242896.3(DEPDC5):c.4571A>G (p.Gln1524Arg)
|
rs377585542
|
0.00001
|
GRCh37/hg19 22q12.2(chr22:32150908-32156688)x1
|
|
|
GRCh37/hg19 22q12.2(chr22:32164800-32164849)x1
|
|
|
GRCh37/hg19 22q12.2(chr22:32164800-32164849)x4
|
|
|
GRCh37/hg19 22q12.2(chr22:32174085-32180861)x1
|
|
|
NM_001242896.3(DEPDC5):c.1019T>C (p.Val340Ala)
|
|
|
NM_001242896.3(DEPDC5):c.1122A>C (p.Leu374Phe)
|
|
|
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)
|
rs777844378
|
|
NM_001242896.3(DEPDC5):c.1324+3_1324+6del
|
|
|
NM_001242896.3(DEPDC5):c.137A>T (p.Asp46Val)
|
|
|
NM_001242896.3(DEPDC5):c.138T>C (p.Asp46=)
|
|
|
NM_001242896.3(DEPDC5):c.1403G>A (p.Arg468Lys)
|
rs2088169081
|
|
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)
|
rs1057519107
|
|
NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His)
|
rs372489331
|
|
NM_001242896.3(DEPDC5):c.1550_1565dup (p.Asp522delinsGluGluProGlyPheTer)
|
rs2088917801
|
|
NM_001242896.3(DEPDC5):c.1567G>A (p.Asp523Asn)
|
|
|
NM_001242896.3(DEPDC5):c.1628A>G (p.Tyr543Cys)
|
|
|
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter)
|
rs886039263
|
|
NM_001242896.3(DEPDC5):c.1967C>T (p.Ala656Val)
|
rs2089705243
|
|
NM_001242896.3(DEPDC5):c.196A>T (p.Thr66Ser)
|
rs1556523682
|
|
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu)
|
rs61731667
|
|
NM_001242896.3(DEPDC5):c.2253G>A (p.Ala751=)
|
rs777616535
|
|
NM_001242896.3(DEPDC5):c.2300A>C (p.Gln767Pro)
|
rs1057519238
|
|
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs)
|
rs2082695884
|
|
NM_001242896.3(DEPDC5):c.2354+138A>G
|
|
|
NM_001242896.3(DEPDC5):c.2413del (p.Gln805fs)
|
rs2091205948
|
|
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys)
|
rs953743301
|
|
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala)
|
rs1569067813
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001242896.3(DEPDC5):c.2633+2T>A
|
rs2091504320
|
|
NM_001242896.3(DEPDC5):c.2831C>T (p.Thr944Ile)
|
rs1228740465
|
|
NM_001242896.3(DEPDC5):c.2848C>T (p.Pro950Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2850A>G (p.Pro950=)
|
rs1422399658
|
|
NM_001242896.3(DEPDC5):c.3177A>G (p.Ala1059=)
|
rs776608344
|
|
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter)
|
rs587777458
|
|
NM_001242896.3(DEPDC5):c.3563+4A>G
|
|
|
NM_001242896.3(DEPDC5):c.3600C>A (p.Leu1200=)
|
|
|
NM_001242896.3(DEPDC5):c.3715C>T (p.Leu1239Phe)
|
rs2149267051
|
|
NM_001242896.3(DEPDC5):c.3805G>A (p.Val1269Met)
|
|
|
NM_001242896.3(DEPDC5):c.3973del (p.Ser1325fs)
|
rs2093122605
|
|
NM_001242896.3(DEPDC5):c.4042G>A (p.Val1348Ile)
|
rs1380088913
|
|
NM_001242896.3(DEPDC5):c.4058C>T (p.Thr1353Ile)
|
rs1163140081
|
|
NM_001242896.3(DEPDC5):c.413+7A>G
|
rs1057519230
|
|
NM_001242896.3(DEPDC5):c.414-4T>C
|
rs2148328295
|
|
NM_001242896.3(DEPDC5):c.4189G>C (p.Val1397Leu)
|
|
|
NM_001242896.3(DEPDC5):c.4197dup (p.Glu1400fs)
|
rs2093489538
|
|
NM_001242896.3(DEPDC5):c.4203+1638A>G
|
|
|
NM_001242896.3(DEPDC5):c.4204-6C>T
|
rs746382504
|
|
NM_001242896.3(DEPDC5):c.4283G>A (p.Ser1428Asn)
|
rs1423776421
|
|
NM_001242896.3(DEPDC5):c.4376G>A (p.Ser1459Asn)
|
rs1245607244
|
|
NM_001242896.3(DEPDC5):c.4388A>G (p.Glu1463Gly)
|
rs2149419608
|
|
NM_001242896.3(DEPDC5):c.4519+1G>A
|
rs1555942720
|
|
NM_001242896.3(DEPDC5):c.461G>A (p.Gly154Asp)
|
|
|
NM_001242896.3(DEPDC5):c.4709delinsGGTTT (p.Asp1570fs)
|
rs2149449730
|
|
NM_001242896.3(DEPDC5):c.470G>C (p.Ser157Thr)
|
|
|
NM_001242896.3(DEPDC5):c.608T>C (p.Leu203Pro)
|
|
|
NM_001242896.3(DEPDC5):c.625-2A>G
|
rs1400868304
|
|
NM_001242896.3(DEPDC5):c.675del (p.Tyr226fs)
|
rs2085727488
|
|
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)
|
rs587776976
|
|
NM_001242896.3(DEPDC5):c.716G>A (p.Arg239Gln)
|
rs371511498
|
|
NM_001242896.3(DEPDC5):c.946+5G>T
|
rs2086528141
|
|