NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00502
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
|
rs74315329
|
0.00089
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter)
|
rs77200626
|
0.00064
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)
|
rs72549380
|
0.00024
|
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
|
rs189261858
|
0.00023
|
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)
|
rs28937879
|
0.00022
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)
|
rs142859678
|
0.00019
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
|
rs121918002
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000478.6(ALPL):c.407G>A (p.Arg136His)
|
rs121918011
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
NM_000237.3(LPL):c.272G>A (p.Trp91Ter)
|
rs118204070
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000517.6(HBA2):c.143del (p.Asp48fs)
|
rs281864539
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)
|
rs374340059
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter)
|
rs140111105
|
0.00004
|
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)
|
rs28940285
|
0.00004
|
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)
|
rs775305020
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000358.3(TGFBI):c.371G>A (p.Arg124His)
|
rs121909211
|
0.00003
|
NM_000387.6(SLC25A20):c.199-10T>G
|
rs541208710
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)
|
rs121917822
|
0.00003
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)
|
rs145961131
|
0.00002
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
rs80359003
|
0.00001
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000132.4(F8):c.1649G>A (p.Arg550His)
|
rs137852418
|
0.00001
|
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
|
rs137852428
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)
|
rs121909210
|
0.00001
|
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)
|
rs886041637
|
0.00001
|
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)
|
rs397515626
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)
|
rs773257111
|
0.00001
|
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)
|
rs121909571
|
0.00001
|
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)
|
rs760714959
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000552.5(VWF):c.100C>T (p.Arg34Ter)
|
rs61753984
|
0.00001
|
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)
|
rs61749398
|
0.00001
|
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)
|
rs61750606
|
0.00001
|
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)
|
rs61750612
|
0.00001
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)
|
rs886040888
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_005208.5(CRYBA1):c.215+1G>A
|
rs1264025914
|
0.00001
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.514del (p.Gln172fs)
|
rs80357872
|
0.00001
|
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)
|
rs992128517
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_018075.5(ANO10):c.1219-1G>T
|
rs1318561721
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_021870.2(FGG):c.902G>A (p.Arg301His)
|
rs121913088
|
0.00001
|
NM_021871.4(FGA):c.104G>A (p.Arg35His)
|
rs121909607
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
|
|
|
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
|
|
|
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
|
|
|
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
|
|
|
NC_000004.12:g.(?_110618049)_(110622472_?)del
|
|
|
NC_000006.12:g.(?_1610445)_(1612107_?)del
|
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000044.6(AR):c.2505C>G (p.Tyr835Ter)
|
rs2147537887
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000059.4(BRCA2):c.1362del (p.Lys454fs)
|
rs80359282
|
|
NM_000059.4(BRCA2):c.1586_1587del (p.Asn528_Phe529insTer)
|
rs1017181748
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs)
|
rs1555283355
|
|
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)
|
rs886038101
|
|
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)
|
rs80359446
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)
|
rs80359679
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)
|
rs80359099
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000064.4(C3):c.481C>T (p.Arg161Trp)
|
rs776423109
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)
|
rs199907548
|
|
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)
|
rs932032926
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs)
|
rs1555572401
|
|
NM_000088.4(COL1A1):c.299-2A>G
|
|
|
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg)
|
rs587779638
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
NM_000111.3(SLC26A3):c.1514+1G>A
|
|
|
NM_000111.3(SLC26A3):c.571-1G>T
|
rs386833485
|
|
NM_000132.4(F8):c.1172G>A (p.Arg391His)
|
rs28935499
|
|
NM_000132.4(F8):c.1203G>A (p.Trp401Ter)
|
rs2124106016
|
|
NM_000132.4(F8):c.1443+2T>G
|
rs2073420861
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)
|
rs387906434
|
|
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs)
|
rs2124046974
|
|
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
|
|
|
NM_000132.4(F8):c.5855T>A (p.Val1952Glu)
|
rs2123996355
|
|
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)
|
rs137852453
|
|
NM_000132.4(F8):c.6506G>A (p.Arg2169His)
|
rs137852461
|
|
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)
|
rs137852464
|
|
NM_000132.4(F8):c.6545G>A (p.Arg2182His)
|
rs137852466
|
|
NM_000132.4(F8):c.671-1G>A
|
rs1255271151
|
|
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)
|
rs137852354
|
|
NM_000133.4(F9):c.1138G>A (p.Ala380Thr)
|
rs2148367990
|
|
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
|
rs886039550
|
|
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter)
|
rs922684362
|
|
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)
|
rs121918487
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.641dup (p.Tyr214Ter)
|
rs2128821490
|
|
NM_000162.5(GCK):c.940del (p.Leu314fs)
|
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974
|
|
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)
|
rs121918408
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs)
|
rs1114167721
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs)
|
rs2104443138
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3560_3563del (p.Glu1187fs)
|
rs2104521805
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)
|
rs2104541388
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
NM_000179.3(MSH6):c.850dup (p.Asp284fs)
|
rs267608062
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)
|
rs104894355
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)
|
rs199473522
|
|
NM_000249.4(MLH1):c.150dup (p.Val51fs)
|
rs63749956
|
|
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter)
|
rs63751689
|
|
NM_000249.4(MLH1):c.1896+1del
|
rs267607868
|
|
NM_000249.4(MLH1):c.672del (p.Ser225fs)
|
rs587779031
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.911del (p.Asp304fs)
|
rs1553647969
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1993del (p.His665fs)
|
rs1667251882
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.2067+1G>A
|
rs1444727212
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter)
|
rs1565622952
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu)
|
rs74315330
|
|
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
|
|
|
NM_000268.4(NF2):c.1039G>T (p.Glu347Ter)
|
|
|
NM_000268.4(NF2):c.10del (p.Ala4fs)
|
rs2064712705
|
|
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro)
|
rs2147082680
|
|
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
|
rs2065661533
|
|
NM_000268.4(NF2):c.363+1G>A
|
rs1601583839
|
|
NM_000268.4(NF2):c.448-1G>A
|
rs2146966216
|
|
NM_000268.4(NF2):c.476del (p.Lys159fs)
|
|
|
NM_000268.4(NF2):c.499G>T (p.Glu167Ter)
|
|
|
NM_000268.4(NF2):c.517-1G>A
|
rs1064796632
|
|
NM_000268.4(NF2):c.553G>T (p.Glu185Ter)
|
rs2146972508
|
|
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
|
rs1555993336
|
|
NM_000277.3(PAH):c.60+2del
|
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)
|
rs398123325
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.1623del (p.Asn541_Leu542insTer)
|
|
|
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)
|
rs1948534542
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)
|
rs121913297
|
|
NM_000321.3(RB1):c.2520+3_2520+6del
|
rs1131690858
|
|
NM_000321.3(RB1):c.2663+1G>A
|
rs2138359672
|
|
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)
|
rs121913296
|
|
NM_000321.3(RB1):c.619C>T (p.Gln207Ter)
|
rs2138107604
|
|
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)
|
rs1131690863
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
|
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000325.6(PITX2):c.343_364del (p.Arg115fs)
|
rs1057519483
|
|
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu)
|
rs1057519484
|
|
NM_000325.6(PITX2):c.714_735del (p.Thr239fs)
|
rs1057519487
|
|
NM_000325.6(PITX2):c.784_785del (p.Ser262fs)
|
rs1057519488
|
|
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter)
|
rs1057519489
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000346.4(SOX9):c.432-2A>T
|
rs1908139210
|
|
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)
|
rs1057517700
|
|
NM_000350.3(ABCA4):c.6386+1G>A
|
rs745654673
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)
|
rs121909208
|
|
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)
|
rs121909209
|
|
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)
|
rs121909210
|
|
NM_000369.5(TSHR):c.1839C>A (p.Tyr613Ter)
|
|
|
NM_000371.4(TTR):c.94C>G (p.Leu32Val)
|
rs2144406525
|
|
NM_000383.4(AIRE):c.349del (p.Ala117fs)
|
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)
|
rs193922433
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000419.5(ITGA2B):c.1545-1G>A
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
|
|
|
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter)
|
rs2114674584
|
|
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.809+1G>T
|
|
|
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs)
|
rs558109660
|
|
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000503.6(EYA1):c.1598-2del
|
|
|
NM_000517.6(HBA2):c.95+2_95+6del
|
rs41474145
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)
|
rs875989899
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000545.8(HNF1A):c.1522G>T (p.Glu508Ter)
|
|
|
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)
|
rs766191969
|
|
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
|
rs730882001
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)
|
rs45517348
|
|
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)
|
rs45485092
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
NM_000551.4(VHL):c.341-1G>A
|
rs1575927648
|
|
NM_000551.4(VHL):c.575del (p.Pro192fs)
|
rs2125130735
|
|
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del)
|
rs267607305
|
|
NM_000552.5(VWF):c.2072del (p.Pro691fs)
|
rs267607309
|
|
NM_000552.5(VWF):c.276dup (p.Asp93Ter)
|
rs61753988
|
|
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)
|
rs61749384
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)
|
rs61750071
|
|
NM_000552.5(VWF):c.4121G>A (p.Arg1374His)
|
rs61750072
|
|
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)
|
rs61750584
|
|
NM_000552.5(VWF):c.5314delG
|
|
|
NM_000552.5(VWF):c.6798+2T>A
|
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000834.5(GRIN2B):c.3937_3940del (p.Glu1313fs)
|
|
|
NM_001001548.3(CD36):c.332_333del (p.Thr111fs)
|
rs572295823
|
|
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)
|
rs1575155995
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter)
|
rs2151783909
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001020658.2(PUM1):c.213dup (p.Ala72fs)
|
rs2124008285
|
|
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln)
|
rs104893995
|
|
NM_001024630.4(RUNX2):c.884del (p.Pro295fs)
|
rs2150421218
|
|
NM_001029896.2(WDR45):c.2T>C (p.Met1Thr)
|
rs1569523565
|
|
NM_001029896.2(WDR45):c.827+1G>C
|
rs1557083958
|
|
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)
|
rs137853113
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)
|
rs796053180
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.3113+1G>T
|
rs267606599
|
|
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter)
|
rs1555614635
|
|
NM_001042492.3(NF1):c.3496+2T>C
|
rs766143785
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs)
|
rs2151556401
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.997dup (p.Tyr333fs)
|
rs1567835183
|
|
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met)
|
rs104895219
|
|
NM_001083614.2(EARS2):c.212del (p.Phe71fs)
|
rs778413603
|
|
NM_001083619.3(GRIA2):c.506del (p.Ala169fs)
|
rs2126885680
|
|
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)
|
rs1555710726
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs)
|
|
|
NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro)
|
rs104895502
|
|
NM_001127392.3(MYRF):c.648C>A (p.Tyr216Ter)
|
rs753113267
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter)
|
rs2152763931
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter)
|
rs1555314116
|
|
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)
|
rs1588307140
|
|
NM_001174147.2(LMX1B):c.741+1G>A
|
rs1427331961
|
|
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs)
|
rs2134409720
|
|
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)
|
rs1085307154
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter)
|
rs199546979
|
|
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs)
|
rs2151378140
|
|
NM_001349338.3(FOXP1):c.738del (p.Asn247fs)
|
rs2106872055
|
|
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs)
|
rs1057518171
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter)
|
rs770083296
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
|
|
|
NM_001365902.3(NFIX):c.765_766del (p.Ile256fs)
|
rs2145434937
|
|
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs)
|
rs1554985737
|
|
NM_001368894.2(PAX6):c.1225+1G>A
|
rs1554982537
|
|
NM_001368894.2(PAX6):c.280_283dup (p.Pro95fs)
|
rs1554985378
|
|
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)
|
rs1554985305
|
|
NM_001368894.2(PAX6):c.3G>T (p.Met1Ile)
|
rs1554986754
|
|
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)
|
rs1554983571
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)
|
rs1554983229
|
|
NM_001369268.1(ACAN):c.492C>A (p.Tyr164Ter)
|
rs375322679
|
|
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu)
|
rs121909575
|
|
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)
|
rs770257115
|
|
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
|
|
|
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)
|
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001378418.1(TCF20):c.364dup (p.Gln122fs)
|
rs777979354
|
|
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)
|
rs1971438573
|
|
NM_001379403.1(WDR26):c.1498del (p.His500fs)
|
rs2102897826
|
|
NM_001399.5(EDA):c.252del (p.Gly85fs)
|
rs1569272328
|
|
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)
|
rs1057519471
|
|
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)
|
rs1057519472
|
|
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)
|
rs1057519482
|
|
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter)
|
rs760676014
|
|
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)
|
rs1057519475
|
|
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)
|
rs1057519477
|
|
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)
|
rs1057519478
|
|
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs)
|
rs1057519479
|
|
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)
|
rs1057519480
|
|
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)
|
rs1057519481
|
|
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)
|
rs2113110837
|
|
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter)
|
rs775301566
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
NM_001655.5(ARCN1):c.431dup (p.Arg145fs)
|
rs2135542081
|
|
NM_001655.5(ARCN1):c.508C>T (p.Arg170Ter)
|
rs1018525321
|
|
NM_001844.5(COL2A1):c.1420-1G>A
|
|
|
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
|
rs58064122
|
|
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)
|
rs104893637
|
|
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)
|
rs121913617
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)
|
rs80338835
|
|
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp)
|
rs1218945005
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)
|
rs3730271
|
|
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)
|
rs2143450145
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter)
|
rs2146417384
|
|
NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)
|
|
|
NM_003079.5(SMARCE1):c.587del (p.Phe196fs)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter)
|
rs55683010
|
|
NM_003119.4(SPG7):c.1151-1G>C
|
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003172.4(SURF1):c.833+1G>A
|
rs782609482
|
|
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
|
|
|
NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs)
|
|
|
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs)
|
rs1555196984
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003742.4(ABCB11):c.99-2A>G
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)
|
rs397514498
|
|
NM_004069.6(AP2S1):c.44G>A (p.Arg15His)
|
rs397514499
|
|
NM_004247.4(EFTUD2):c.1719+1G>A
|
rs2145460853
|
|
NM_004364.5(CEBPA):c.209del (p.Pro70fs)
|
rs2145263762
|
|
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
|
|
|
NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)
|
|
|
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)
|
|
|
NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
|
NM_004656.4(BAP1):c.1480_1481del (p.Asp494fs)
|
rs2153226700
|
|
NM_004656.4(BAP1):c.206del (p.Thr69fs)
|
|
|
NM_004656.4(BAP1):c.932-151G>A
|
rs1705120040
|
|
NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter)
|
|
|
NM_004855.5(PIGB):c.847-10A>G
|
rs779296101
|
|
NM_005121.3(MED13):c.2524C>T (p.Gln842Ter)
|
rs2143471373
|
|
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter)
|
rs1569539359
|
|
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
|
rs397517154
|
|
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)
|
rs1204045237
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.631-2A>G
|
|
|
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)
|
rs797045074
|
|
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)
|
rs483352809
|
|
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)
|
rs2117255599
|
|
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
|
rs104894082
|
|
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)
|
rs104894083
|
|
NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)
|
|
|
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter)
|
rs2150886525
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
NM_006767.4(LZTR1):c.401-1G>A
|
|
|
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter)
|
rs138247472
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007262.5(PARK7):c.105dup (p.Ala36fs)
|
rs781600849
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)
|
rs80356904
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)
|
rs398122677
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter)
|
rs397509108
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4357+6T>C
|
rs80358143
|
|
NM_007294.4(BRCA1):c.4484+1del
|
rs397509181
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter)
|
rs2058786429
|
|
NM_012330.4(KAT6B):c.1993+1G>A
|
rs2133733164
|
|
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs)
|
rs1554403626
|
|
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs)
|
rs2034485034
|
|
NM_013275.6(ANKRD11):c.4370_4371del (p.Lys1457fs)
|
rs2151750249
|
|
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
|
|
|
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)
|
rs2125682979
|
|
NM_015065.3(EXPH5):c.4917C>A (p.Cys1639Ter)
|
rs763170220
|
|
NM_015378.4(VPS13D):c.5725+2dup
|
|
|
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs)
|
rs121909834
|
|
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter)
|
rs762662276
|
|
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)
|
rs2135597189
|
|
NM_016222.4(DDX41):c.1621+5G>T
|
rs2127435833
|
|
NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)
|
|
|
NM_017780.4(CHD7):c.1989dup (p.Glu664fs)
|
rs2150669971
|
|
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
|
|
|
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
|
|
|
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
|
|
|
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)
|
rs387907093
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)
|
rs374268850
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs)
|
rs747160538
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)
|
rs121434621
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020988.3(GNAO1):c.724-8G>A
|
rs1085307876
|
|
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)
|
rs1554944271
|
|
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)
|
rs2151665554
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
NM_022893.4(BCL11A):c.1A>G (p.Met1Val)
|
rs1573109761
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
NM_024426.6(WT1):c.769C>T (p.Gln257Ter)
|
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3296del (p.Thr1099fs)
|
rs1966508003
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
|
rs587780332
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter)
|
rs2146377060
|
|
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter)
|
rs886041983
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_033380.3(COL4A5):c.2917+2T>A
|
|
|
NM_033380.3(COL4A5):c.3016+1G>A
|
|
|
NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter)
|
|
|
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)
|
rs1064793307
|
|
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
|
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_144997.7(FLCN):c.1021del (p.Arg341fs)
|
rs1060502368
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1426dup (p.Asp476fs)
|
rs1131690835
|
|
NM_144997.7(FLCN):c.946_947del (p.Ser316fs)
|
rs1597591875
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152515.5(CKAP2L):c.501del (p.Asn167fs)
|
rs2104884982
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)
|
rs754081635
|
|
NM_177438.3(DICER1):c.5326C>T (p.Gln1776Ter)
|
rs2139811410
|
|
NM_177438.3(DICER1):c.712del (p.Thr238fs)
|
rs2140259982
|
|
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu)
|
rs1064795110
|
|
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)
|
rs587777357
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.1255-1_1256del
|
rs1554514380
|
|
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)
|
rs1563313372
|
|
NM_197968.4(ZMYM2):c.2833dup (p.Ala945fs)
|
rs2140777563
|
|
NM_197968.4(ZMYM2):c.978del (p.Val327fs)
|
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
|
|
|
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter)
|
rs2126600867
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
der(6)t(6;10)(p25.2;q26.3)
|
|
|