NM_001174147.2(LMX1B):c.441A>G (p.Glu147=)
|
rs2277158
|
0.45698
|
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=)
|
rs13295990
|
0.41484
|
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)
|
rs3776070
|
0.19906
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)
|
rs61739916
|
0.03133
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)
|
rs140760439
|
0.00337
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_001009994.3(RIPPLY2):c.240-4T>G
|
rs370933531
|
0.00074
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
NM_020436.5(SALL4):c.541G>A (p.Val181Met)
|
rs139382539
|
0.00052
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)
|
rs201077220
|
0.00034
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)
|
rs199585131
|
0.00024
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)
|
rs587778559
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)
|
rs151319255
|
0.00019
|
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu)
|
rs147140948
|
0.00016
|
NM_013432.5(TONSL):c.2302C>T (p.Arg768Trp)
|
rs747619822
|
0.00016
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln)
|
rs139593707
|
0.00014
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His)
|
rs571684398
|
0.00013
|
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)
|
rs148808709
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_002381.5(MATN3):c.209G>A (p.Arg70His)
|
rs104893640
|
0.00012
|
NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr)
|
rs377348789
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)
|
rs757541406
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His)
|
rs140368271
|
0.00009
|
NM_004260.4(RECQL4):c.2837G>A (p.Arg946His)
|
rs773154902
|
0.00009
|
NM_015909.4(NBAS):c.4031A>T (p.His1344Leu)
|
rs201325677
|
0.00009
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)
|
rs375476174
|
0.00006
|
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg)
|
rs200137805
|
0.00006
|
NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe)
|
rs556988328
|
0.00006
|
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
|
rs202009944
|
0.00006
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
rs756105620
|
0.00004
|
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)
|
rs149820303
|
0.00004
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)
|
rs749003514
|
0.00004
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
NM_002381.5(MATN3):c.693G>C (p.Lys231Asn)
|
rs773642745
|
0.00004
|
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu)
|
rs202053091
|
0.00004
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_052989.3(IFT122):c.349+5G>A
|
rs376595844
|
0.00004
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_002381.5(MATN3):c.656C>A (p.Ala219Asp)
|
rs28939677
|
0.00003
|
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)
|
rs752729755
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00003
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
rs80358559
|
0.00002
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
|
rs104893916
|
0.00002
|
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)
|
rs752532498
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val)
|
rs556023069
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)
|
rs181690344
|
0.00002
|
NM_006031.6(PCNT):c.3465-1G>A
|
rs755084205
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)
|
rs72645341
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000095.3(COMP):c.500G>A (p.Gly167Glu)
|
rs763887855
|
0.00001
|
NM_000112.4(SLC26A2):c.1361A>C (p.Gln454Pro)
|
rs104893921
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr)
|
rs1165230596
|
0.00001
|
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)
|
rs761325047
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)
|
rs561190476
|
0.00001
|
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter)
|
rs80356519
|
0.00001
|
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)
|
rs80356520
|
0.00001
|
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)
|
rs1186241291
|
0.00001
|
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)
|
rs886043832
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser)
|
rs148751593
|
0.00001
|
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)
|
rs372419698
|
0.00001
|
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser)
|
rs1182722973
|
0.00001
|
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)
|
rs187943382
|
0.00001
|
NM_004260.4(RECQL4):c.2059-1G>A
|
rs386833849
|
0.00001
|
NM_004260.4(RECQL4):c.3056-2A>C
|
rs786200889
|
0.00001
|
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp)
|
rs137853232
|
0.00001
|
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His)
|
rs752847936
|
0.00001
|
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His)
|
rs1556889522
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)
|
rs80356758
|
0.00001
|
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)
|
rs773185855
|
0.00001
|
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
|
rs766644919
|
0.00001
|
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)
|
rs954507677
|
0.00001
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln)
|
rs1235525082
|
0.00001
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)
|
rs397515568
|
0.00001
|
NM_080680.3(COL11A2):c.798+67C>T
|
rs772701006
|
0.00001
|
GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
|
|
|
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
|
|
|
GRCh37/hg19 17q22(chr17:56787220-56811584)x1
|
|
|
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)
|
rs1469541725
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)
|
rs55953736
|
|
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)
|
rs80359688
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)
|
rs1401510742
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)
|
rs72653147
|
|
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser)
|
rs1434279534
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
|
rs761672800
|
|
NM_000089.4(COL1A2):c.368C>A (p.Pro123His)
|
rs1791759808
|
|
NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)
|
|
|
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)
|
rs2145902176
|
|
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)
|
rs1601054715
|
|
NM_000095.3(COMP):c.1156_1158del (p.Asn386del)
|
rs397515510
|
|
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)
|
rs193922900
|
|
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)
|
rs193922900
|
|
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)
|
rs137852654
|
|
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)
|
rs312262903
|
|
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)
|
rs397515511
|
|
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)
|
rs312262899
|
|
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)
|
rs312262900
|
|
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)
|
rs312262900
|
|
NM_000095.3(COMP):c.1754C>T (p.Thr585Met)
|
rs312262900
|
|
NM_000095.3(COMP):c.1760A>G (p.His587Arg)
|
rs312262901
|
|
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)
|
rs397515512
|
|
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)
|
rs397515513
|
|
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)
|
rs28936368
|
|
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)
|
rs149551600
|
|
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)
|
rs312262904
|
|
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)
|
rs137852655
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)
|
rs104893920
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)
|
rs121918498
|
|
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe)
|
rs387907372
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys)
|
rs1044021305
|
|
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)
|
rs121913479
|
|
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)
|
rs121913484
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)
|
rs121913105
|
|
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn)
|
rs28928868
|
|
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)
|
rs397515514
|
|
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)
|
rs121913103
|
|
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)
|
rs121913103
|
|
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys)
|
rs121913103
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys)
|
rs121913115
|
|
NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter)
|
rs80338688
|
|
NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter)
|
rs80338688
|
|
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)
|
rs773847165
|
|
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)
|
rs397515537
|
|
NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs)
|
rs730880314
|
|
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala)
|
rs104893993
|
|
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)
|
rs104893992
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu)
|
rs104893991
|
|
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs)
|
rs397515538
|
|
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu)
|
rs113994156
|
|
NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe)
|
rs113994157
|
|
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)
|
rs113994158
|
|
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)
|
rs104894024
|
|
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)
|
rs387907107
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys)
|
rs913431428
|
|
NM_001130144.3(LTBP3):c.2893+1G>T
|
rs2135125210
|
|
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)
|
rs71036212
|
|
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)
|
rs113994160
|
|
NM_001174147.2(LMX1B):c.422_430del (p.Phe141_Cys143del)
|
rs2118986948
|
|
NM_001429.4(EP300):c.2225del (p.Pro742fs)
|
rs2059021664
|
|
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter)
|
rs1555911313
|
|
NM_001429.4(EP300):c.5723dup (p.Thr1909fs)
|
rs1555912182
|
|
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)
|
rs80356517
|
|
NM_001457.4(FLNB):c.442T>A (p.Trp148Arg)
|
rs80356493
|
|
NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del)
|
rs80356498
|
|
NM_001457.4(FLNB):c.4804T>C (p.Ser1602Pro)
|
rs80356501
|
|
NM_001457.4(FLNB):c.4927G>T (p.Ala1643Ser)
|
rs80356502
|
|
NM_001457.4(FLNB):c.512T>A (p.Leu171Gln)
|
rs80356494
|
|
NM_001457.4(FLNB):c.542G>T (p.Gly181Val)
|
rs80356495
|
|
NM_001457.4(FLNB):c.549C>G (p.Cys183Trp)
|
rs80356496
|
|
NM_001457.4(FLNB):c.602C>T (p.Ala201Val)
|
rs80356499
|
|
NM_001457.4(FLNB):c.608A>C (p.Gln203Pro)
|
rs80356497
|
|
NM_001457.4(FLNB):c.629G>T (p.Gly210Val)
|
rs80356500
|
|
NM_001457.4(FLNB):c.6408del (p.Ser2137fs)
|
rs80356521
|
|
NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter)
|
rs80356518
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)
|
rs121912931
|
|
NM_001852.4(COL9A2):c.843_846+4del
|
rs606231376
|
|
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
|
|
|
NM_002335.4(LRP5):c.4349-8C>A
|
rs2153181939
|
|
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)
|
rs397515546
|
|
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)
|
rs104893637
|
|
NM_002381.5(MATN3):c.400G>A (p.Glu134Lys)
|
rs2103484088
|
|
NM_002381.5(MATN3):c.437T>G (p.Leu146Arg)
|
rs2103484073
|
|
NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del)
|
rs2103484013
|
|
NM_002381.5(MATN3):c.518C>A (p.Ala173Asp)
|
rs779413744
|
|
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)
|
rs2103483989
|
|
NM_002381.5(MATN3):c.581T>A (p.Val194Asp)
|
rs104893645
|
|
NM_002381.5(MATN3):c.584C>A (p.Thr195Lys)
|
rs765225021
|
|
NM_002381.5(MATN3):c.626G>C (p.Arg209Pro)
|
rs749845872
|
|
NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn)
|
rs2103483937
|
|
NM_002381.5(MATN3):c.910T>A (p.Cys304Ser)
|
rs104893639
|
|
NM_002449.5(MSX2):c.443C>A (p.Pro148His)
|
rs104893895
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_003995.4(NPR2):c.1557+1G>A
|
rs2132081744
|
|
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser)
|
rs993147176
|
|
NM_004260.4(RECQL4):c.2059-1G>C
|
rs386833849
|
|
NM_004260.4(RECQL4):c.2059-1G>T
|
rs386833849
|
|
NM_004260.4(RECQL4):c.2059-78_3201del
|
|
|
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs)
|
rs746222099
|
|
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met)
|
rs772168426
|
|
NM_004260.4(RECQL4):c.2335_2356del (p.Asp779fs)
|
rs2130678086
|
|
NM_004260.4(RECQL4):c.2506_2518del (p.Ser836fs)
|
rs2130673134
|
|
NM_004260.4(RECQL4):c.3151A>G (p.Ile1051Val)
|
rs1380694111
|
|
NM_004260.4(RECQL4):c.496C>T (p.Gln166Ter)
|
rs2130727746
|
|
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)
|
rs2141203402
|
|
NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)
|
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
|
|
|
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)
|
rs587777113
|
|
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.925-2A>G
|
rs397507561
|
|
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)
|
rs397515388
|
|
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter)
|
rs397515389
|
|
NM_005445.4(SMC3):c.2535+1G>A
|
|
|
NM_005515.4(MNX1):c.403_404insCCGCCG (p.Ala133_Ala134dup)
|
rs1290429302
|
|
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)
|
rs145155624
|
|
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg)
|
rs387907212
|
|
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)
|
rs387907213
|
|
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs)
|
rs1556886127
|
|
NM_006766.5(KAT6A):c.2525del (p.Ser842fs)
|
|
|
NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys)
|
rs758279337
|
|
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu)
|
rs193922922
|
|
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)
|
rs199470470
|
|
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)
|
rs80356755
|
|
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)
|
rs80356756
|
|
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)
|
rs367543008
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)
|
rs80356752
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)
|
rs80356754
|
|
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)
|
rs1555575860
|
|
NM_015386.3(COG4):c.1546G>C (p.Gly516Arg)
|
rs1555575860
|
|
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser)
|
rs1060502237
|
|
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)
|
rs1247729687
|
|
NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg)
|
rs2122962845
|
|
NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile)
|
rs755503899
|
|
NM_020436.5(SALL4):c.2663A>G (p.His888Arg)
|
rs74315429
|
|
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter)
|
rs74315428
|
|
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)
|
rs267607174
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly)
|
rs761864966
|
|
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)
|
rs753380568
|
|
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser)
|
rs761570342
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)
|
rs587780821
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)
|
rs387906981
|
|
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)
|
rs863223403
|
|
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro)
|
rs1564063967
|
|
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)
|
rs1554698681
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)
|
rs753733757
|
|
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)
|
rs267607191
|
|
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)
|
rs267607193
|
|
NM_052989.3(IFT122):c.955del (p.Glu319fs)
|
rs397515567
|
|
NM_058216.3(RAD51C):c.672_705+65dup
|
rs1555597214
|
|
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)
|
rs1555602136
|
|
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu)
|
rs868294395
|
|
NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)
|
rs1555409014
|
|
NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg)
|
rs119103234
|
|
NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly)
|
rs119103234
|
|
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)
|
rs1554929295
|
|
NM_213599.3(ANO5):c.2004del (p.Leu669fs)
|
rs886043172
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
Single allele
|
|
|