NM_001018113.3(FANCB):c.-173G>C
|
rs2188383
|
0.63320
|
NM_001018113.3(FANCB):c.1327-10T>C
|
rs2905223
|
0.53797
|
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)
|
rs41309679
|
0.05446
|
NM_001018113.3(FANCB):c.*14T>C
|
rs2375726
|
0.02466
|
NM_001018113.3(FANCB):c.-229T>G
|
rs149617434
|
0.00830
|
NM_001018113.3(FANCB):c.402A>G (p.Leu134=)
|
rs147260208
|
0.00701
|
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala)
|
rs104894963
|
0.00650
|
NM_001018113.3(FANCB):c.*66T>G
|
rs143434225
|
0.00525
|
NM_003413.4(ZIC3):c.*1189A>G
|
rs41300285
|
0.00393
|
NM_003413.4(ZIC3):c.*41A>G
|
rs12387258
|
0.00328
|
NM_003413.4(ZIC3):c.*489A>G
|
rs183286584
|
0.00266
|
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)
|
rs147232392
|
0.00206
|
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)
|
rs140823819
|
0.00113
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_003413.4(ZIC3):c.*260T>C
|
rs41299098
|
0.00074
|
NM_001018113.3(FANCB):c.*33T>C
|
rs187611308
|
0.00068
|
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His)
|
rs140198444
|
0.00053
|
NM_001018113.3(FANCB):c.69T>C (p.Leu23=)
|
rs151173533
|
0.00047
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)
|
rs143976596
|
0.00038
|
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)
|
rs143131218
|
0.00038
|
NM_003413.4(ZIC3):c.-424C>A
|
rs933941596
|
0.00032
|
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)
|
rs201436396
|
0.00031
|
NM_001018113.3(FANCB):c.1371C>T (p.Val457=)
|
rs149695930
|
0.00029
|
NM_003413.4(ZIC3):c.*1540G>A
|
rs184855783
|
0.00026
|
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)
|
rs192743430
|
0.00024
|
NM_003413.4(ZIC3):c.*1237A>T
|
rs772508899
|
0.00024
|
NM_003413.4(ZIC3):c.*26T>C
|
rs370928726
|
0.00024
|
NM_003413.4(ZIC3):c.-335C>T
|
rs181414932
|
0.00022
|
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)
|
rs199909156
|
0.00020
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser)
|
rs78870836
|
0.00018
|
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly)
|
rs148257882
|
0.00015
|
NM_003413.4(ZIC3):c.*1362T>G
|
rs775549541
|
0.00015
|
NM_001018113.3(FANCB):c.*151A>G
|
rs1480015600
|
0.00011
|
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)
|
rs140363445
|
0.00010
|
NM_001018113.3(FANCB):c.504C>G (p.Ser168=)
|
rs373738816
|
0.00010
|
NM_001018113.3(FANCB):c.-111A>G
|
rs185118376
|
0.00009
|
NM_001018113.3(FANCB):c.-232G>A
|
rs756766337
|
0.00009
|
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn)
|
rs148560784
|
0.00009
|
NM_001018113.3(FANCB):c.-230A>T
|
rs1020271259
|
0.00008
|
NM_001018113.3(FANCB):c.330A>C (p.Leu110=)
|
rs201633684
|
0.00008
|
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
|
rs142289802
|
0.00008
|
NM_003413.4(ZIC3):c.-479C>T
|
rs1022475218
|
0.00007
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)
|
rs866138487
|
0.00004
|
NM_003413.4(ZIC3):c.906C>T (p.Cys302=)
|
rs779221820
|
0.00004
|
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala)
|
rs184796918
|
0.00003
|
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)
|
rs377058108
|
0.00003
|
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
|
rs943801800
|
0.00002
|
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)
|
rs761346761
|
0.00002
|
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)
|
rs761492600
|
0.00002
|
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)
|
rs1034395123
|
0.00002
|
NM_003413.4(ZIC3):c.*1581G>A
|
rs1308496629
|
0.00002
|
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu)
|
rs1302645424
|
0.00002
|
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
|
rs764156696
|
0.00001
|
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)
|
rs753030842
|
0.00001
|
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)
|
rs1057515805
|
0.00001
|
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met)
|
rs772802668
|
0.00001
|
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)
|
rs773313492
|
0.00001
|
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)
|
rs773221142
|
0.00001
|
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
|
rs1317100453
|
0.00001
|
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly)
|
rs750381270
|
0.00001
|
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)
|
rs747819351
|
0.00001
|
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)
|
rs374217132
|
0.00001
|
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)
|
rs757610875
|
0.00001
|
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)
|
rs754238911
|
0.00001
|
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)
|
rs1057515808
|
0.00001
|
NM_003413.4(ZIC3):c.*153A>G
|
rs1931418607
|
0.00001
|
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
|
rs1034877221
|
0.00001
|
GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3
|
|
|
GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3
|
|
|
GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1
|
|
|
GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3
|
|
|
GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1
|
|
|
GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1
|
|
|
GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1
|
|
|
GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1
|
|
|
GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3
|
|
|
GRCh37/hg19 17q12(chr17:34815551-36208392)x1
|
|
|
GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3
|
|
|
GRCh37/hg19 1q44(chr1:245900039-246475061)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1
|
|
|
GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3
|
|
|
GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1
|
|
|
GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1
|
|
|
GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1
|
|
|
GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3
|
|
|
GRCh37/hg19 7q35(chr7:147516080-147803861)x1
|
|
|
GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1
|
|
|
NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del)
|
rs587776824
|
|
NM_001018113.3(FANCB):c.-219G>T
|
rs373175926
|
|
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)
|
rs956498867
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)
|
rs2147425036
|
|
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
|
rs776802337
|
|
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)
|
rs993307430
|
|
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)
|
rs2147391126
|
|
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
|
rs2092370985
|
|
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)
|
rs964099207
|
|
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)
|
rs144764663
|
|
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
|
rs2092368698
|
|
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
|
rs2092363086
|
|
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)
|
rs2147386189
|
|
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)
|
rs2147447239
|
|
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)
|
rs970828551
|
|
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)
|
rs2092462570
|
|
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)
|
rs746389250
|
|
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln)
|
rs1057515809
|
|
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
|
rs2092461325
|
|
NM_001018113.3(FANCB):c.952-13C>T
|
rs1057515807
|
|
NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys)
|
rs752504125
|
|
NM_003413.4(ZIC3):c.*1171_*1173del
|
rs1057515786
|
|
NM_003413.4(ZIC3):c.*1492T>C
|
rs1931437482
|
|
NM_003413.4(ZIC3):c.*1715A>G
|
rs1057515787
|
|
NM_003413.4(ZIC3):c.*2024G>C
|
rs113057036
|
|
NM_003413.4(ZIC3):c.*750A>G
|
rs1931426956
|
|
NM_003413.4(ZIC3):c.*798_*802del
|
rs899320157
|
|
NM_003413.4(ZIC3):c.-169A>C
|
rs1931342053
|
|
NM_003413.4(ZIC3):c.1010A>G (p.Lys337Arg)
|
rs1931371643
|
|
NM_003413.4(ZIC3):c.1103del (p.Arg368fs)
|
rs2124185586
|
|
NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup)
|
rs398122850
|
|
NM_016292.3(TRAP1):c.472G>C (p.Asp158His)
|
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|