NM_130839.5(UBE3A):c.477A>T (p.Ala159=)
|
rs28528079
|
0.03018
|
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)
|
rs61734190
|
0.02311
|
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)
|
rs143736974
|
0.00628
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)
|
rs55882518
|
0.00433
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)
|
rs61750965
|
0.00379
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
|
rs148934699
|
0.00336
|
NM_007315.4(STAT1):c.633+6T>A
|
rs45459703
|
0.00335
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys)
|
rs115365142
|
0.00260
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
NM_024884.3(L2HGDH):c.408+14T>C
|
rs77736285
|
0.00215
|
NM_002206.3(ITGA7):c.2958+16G>A
|
rs200586885
|
0.00207
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00206
|
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)
|
rs148385798
|
0.00205
|
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)
|
rs147437033
|
0.00195
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_014679.5(CEP57):c.677G>A (p.Arg226His)
|
rs143711180
|
0.00168
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00156
|
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)
|
rs144461610
|
0.00148
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)
|
rs147802438
|
0.00131
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
NM_130839.5(UBE3A):c.618A>T (p.Ala206=)
|
rs143484751
|
0.00121
|
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His)
|
rs187563594
|
0.00121
|
NM_001364905.1(LRBA):c.5754+15T>C
|
rs112952572
|
0.00118
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)
|
rs202232792
|
0.00115
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_000553.6(WRN):c.720T>G (p.Asn240Lys)
|
rs148229804
|
0.00085
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)
|
rs201734382
|
0.00070
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668
|
0.00054
|
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)
|
rs150331504
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_199242.3(UNC13D):c.2553+5C>G
|
rs201930023
|
0.00051
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)
|
rs544247912
|
0.00040
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)
|
rs786203769
|
0.00034
|
NM_000817.3(GAD1):c.1184+17G>A
|
rs180969459
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
NM_020529.3(NFKBIA):c.337-20G>A
|
rs371120371
|
0.00021
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_005535.3(IL12RB1):c.581-17G>A
|
rs370354493
|
0.00019
|
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)
|
rs140196536
|
0.00018
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626
|
0.00016
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)
|
rs35194393
|
0.00014
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)
|
rs145666157
|
0.00013
|
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)
|
rs765282250
|
0.00012
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val)
|
rs201647225
|
0.00011
|
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met)
|
rs376888531
|
0.00011
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
|
rs200945282
|
0.00009
|
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)
|
rs369930675
|
0.00009
|
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)
|
rs371360176
|
0.00008
|
NM_000383.4(AIRE):c.652+15G>A
|
rs760027964
|
0.00007
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr)
|
rs770206566
|
0.00006
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)
|
rs753924410
|
0.00006
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)
|
rs200075817
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser)
|
rs779247029
|
0.00004
|
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu)
|
rs779629382
|
0.00004
|
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)
|
rs749376396
|
0.00004
|
NM_007315.4(STAT1):c.1727+13G>A
|
rs377146580
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00004
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)
|
rs748614674
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)
|
rs777826268
|
0.00003
|
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)
|
rs759524625
|
0.00002
|
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)
|
rs747376669
|
0.00002
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu)
|
rs146814571
|
0.00002
|
NM_000038.6(APC):c.7262C>T (p.Ser2421Leu)
|
rs536557651
|
0.00001
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)
|
rs372546614
|
0.00001
|
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)
|
rs751955670
|
0.00001
|
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)
|
rs773545852
|
0.00001
|
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)
|
rs751708490
|
0.00001
|
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)
|
rs1459518095
|
0.00001
|
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val)
|
rs147599098
|
0.00001
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val)
|
rs1299043216
|
0.00001
|
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser)
|
rs746344900
|
0.00001
|
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)
|
rs762234006
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)
|
rs80357457
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His)
|
rs587781761
|
0.00001
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000045.4(ARG1):c.75A>G (p.Glu25=)
|
rs755973004
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)
|
rs562257963
|
|
NM_002878.4(RAD51D):c.738+14C>T
|
rs374761868
|
|
NM_004946.3(DOCK2):c.3073-8A>G
|
rs113289730
|
|
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)
|
rs1276607391
|
|
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp)
|
rs1300327079
|
|
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val)
|
rs540563766
|
|