NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr)
|
rs148679597
|
0.00196
|
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)
|
rs148404807
|
0.00191
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)
|
rs749052307
|
0.00173
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)
|
rs140537724
|
0.00140
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln)
|
rs115209326
|
0.00131
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp)
|
rs144768563
|
0.00113
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_005559.4(LAMA1):c.2808+5G>A
|
rs201030108
|
0.00089
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)
|
rs149775261
|
0.00031
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00026
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_002055.5(GFAP):c.1171+474G>A
|
rs370385098
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)
|
rs369284316
|
0.00005
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)
|
rs377667066
|
0.00004
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)
|
rs757888367
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)
|
rs755818826
|
0.00001
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del)
|
rs864309616
|
|
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)
|
rs565457964
|
|
NM_052813.5(CARD9):c.1434+1G>C
|
rs141992399
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)
|
rs201588551
|
|