NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser)
|
rs143812636
|
0.00052
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00030
|
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)
|
rs991748781
|
0.00025
|
NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser)
|
rs372802683
|
0.00025
|
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)
|
rs200629599
|
0.00024
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
NM_017837.4(PIGV):c.134G>A (p.Arg45His)
|
rs148135928
|
0.00011
|
NM_004260.4(RECQL4):c.1132-8C>A
|
rs370660188
|
0.00010
|
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile)
|
rs370696201
|
0.00009
|
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)
|
rs199777870
|
0.00008
|
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val)
|
rs377490218
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)
|
rs763902589
|
0.00004
|
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp)
|
rs779310267
|
0.00003
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val)
|
rs762828757
|
0.00002
|
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly)
|
rs1262508273
|
0.00002
|
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)
|
rs757631575
|
0.00002
|
NM_017617.5(NOTCH1):c.2937C>T (p.His979=)
|
rs1406216361
|
0.00002
|
NM_000135.4(FANCA):c.2013T>C (p.Asp671=)
|
rs1225307143
|
0.00001
|
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)
|
rs1415434775
|
0.00001
|
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro)
|
rs751025656
|
0.00001
|
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro)
|
rs1370113722
|
0.00001
|
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys)
|
rs774250442
|
0.00001
|
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met)
|
rs780282337
|
0.00001
|
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
|
rs767886377
|
0.00001
|
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His)
|
rs768775024
|
0.00001
|
NM_017837.4(PIGV):c.968A>G (p.Lys323Arg)
|
rs774991514
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr)
|
rs1374316194
|
0.00001
|
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe)
|
rs755754734
|
0.00001
|
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser)
|
rs868761818
|
|
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
|
|
|
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe)
|
rs1581251031
|
|
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
|
|
|
NM_001999.4(FBN2):c.255-3C>G
|
rs2112809259
|
|
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)
|
rs1554123065
|
|
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val)
|
rs886038767
|
|
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=)
|
rs1561733846
|
|
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
|
|
|
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)
|
rs774808496
|
|
NM_017837.4(PIGV):c.1464C>T (p.Asn488=)
|
rs973687848
|
|
NM_017837.4(PIGV):c.728T>C (p.Leu243Pro)
|
rs771841963
|
|
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)
|
rs1558825558
|
|
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
|
|
|
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del)
|
rs1573532439
|
|
NM_022725.4(FANCF):c.353G>T (p.Gly118Val)
|
rs200874455
|
|
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu)
|
rs766299864
|
|
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del)
|
rs1302525912
|
|
NM_032634.4(PIGO):c.2388G>A (p.Val796=)
|
rs1563995829
|
|
NM_032634.4(PIGO):c.3194G>C (p.Gly1065Ala)
|
rs1563992617
|
|
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys)
|
rs786204086
|
|
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr)
|
rs876659936
|
|
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
|
|
|
NM_181486.4(TBX5):c.557T>G (p.Val186Gly)
|
rs1555226019
|
|
NM_182961.4(SYNE1):c.-224+1G>A
|
|
|