NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_000478.6(ALPL):c.407G>A (p.Arg136His)
|
rs121918011
|
0.00006
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_000518.5(HBB):c.-151C>T
|
rs63751208
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000371.4(TTR):c.118G>A (p.Val40Ile)
|
rs121918093
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
NM_006907.4(PYCR1):c.59dup (p.Ala21fs)
|
rs762218403
|
0.00001
|
NM_000044.6(AR):c.2324G>A (p.Arg775His)
|
rs137852572
|
|
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)
|
rs121913479
|
|
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)
|
rs121913103
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)
|
rs80338785
|
|
NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs)
|
rs1555526309
|
|
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser)
|
rs1568361818
|
|
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr)
|
rs2145441541
|
|
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup)
|
rs774711025
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.5(HBB):c.-81A>G
|
rs33981098
|
|
NM_000518.5(HBB):c.380T>A (p.Val127Glu)
|
rs33925391
|
|
NM_000518.5(HBB):c.90C>T (p.Gly30=)
|
rs35578002
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs)
|
rs1057519511
|
|
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)
|
rs886041971
|
|
NM_001032221.6(STXBP1):c.1702+1G>A
|
rs796053377
|
|
NM_001032221.6(STXBP1):c.325+2_325+3del
|
rs1554776853
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001042492.3(NF1):c.5087del (p.Leu1696fs)
|
rs1555533368
|
|
NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs)
|
rs587776709
|
|
NM_001080517.3(SETD5):c.1783-1G>C
|
rs1553625691
|
|
NM_001080517.3(SETD5):c.1893_1894insA (p.Arg632fs)
|
rs1553625836
|
|
NM_001080517.3(SETD5):c.2508dup (p.Arg837fs)
|
rs1553635477
|
|
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)
|
rs121909120
|
|
NM_001101.5(ACTB):c.350A>T (p.Glu117Val)
|
rs1554329516
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer)
|
rs1064797104
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs)
|
rs1555915854
|
|
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
|
|
|
NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln)
|
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)
|
rs672601366
|
|
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs)
|
rs1555809984
|
|
NM_001291415.2(KDM6A):c.1552_1555dup (p.Trp519fs)
|
rs1556311265
|
|
NM_001303052.2(MYT1L):c.760dup (p.Asp254fs)
|
rs1553324416
|
|
NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter)
|
rs1555984433
|
|
NM_001349338.3(FOXP1):c.975-2A>C
|
rs1553685707
|
|
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs)
|
rs1555953819
|
|
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu)
|
rs1555954105
|
|
NM_001356.5(DDX3X):c.770dup (p.Asn257fs)
|
rs1555953398
|
|
NM_001367721.1(CASK):c.2040-1G>A
|
rs1555977269
|
|
NM_001371928.1(AHDC1):c.3497C>G (p.Ser1166Ter)
|
rs1553158393
|
|
NM_001371928.1(AHDC1):c.550del (p.Ala184fs)
|
rs1553159979
|
|
NM_001372044.2(SHANK3):c.3848del (p.Gly1283fs)
|
rs1569115756
|
|
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)
|
rs180177042
|
|
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter)
|
rs1554265275
|
|
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter)
|
rs1554270809
|
|
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs)
|
rs1554294698
|
|
NM_001374828.1(ARID1B):c.3714+2T>G
|
rs1404726383
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)
|
rs1057519522
|
|
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)
|
rs1553758021
|
|
NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs)
|
rs1553403653
|
|
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs)
|
rs1425609364
|
|
NM_001379403.1(WDR26):c.373_374insA (p.Gly125fs)
|
rs1553364018
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs)
|
rs1553630507
|
|
NM_002074.5(GNB1):c.301A>G (p.Met101Val)
|
rs869312825
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_003482.4(KMT2D):c.14069_14075+1del
|
rs1555186619
|
|
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)
|
rs886041404
|
|
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)
|
rs886041398
|
|
NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs)
|
rs1567977657
|
|
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)
|
rs1057519632
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.449del (p.Phe150fs)
|
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)
|
rs1555943492
|
|
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)
|
rs1553181280
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)
|
rs267606704
|
|
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys)
|
rs1022192010
|
|
NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu)
|
rs886041021
|
|
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
|
rs1057519942
|
|
NM_006565.4(CTCF):c.773_776del (p.Lys258fs)
|
rs1567608876
|
|
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs)
|
rs1554680245
|
|
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)
|
rs879255626
|
|
NM_007327.4(GRIN1):c.1961T>G (p.Phe654Cys)
|
rs1554770262
|
|
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs)
|
rs1554843829
|
|
NM_012330.4(KAT6B):c.4461_4464del (p.Glu1488fs)
|
rs1554845810
|
|
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter)
|
rs1555529551
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)
|
rs797045027
|
|
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter)
|
rs761848111
|
|
NM_014639.4(SKIC3):c.2578-7_2578-3del
|
rs746874042
|
|
NM_014795.4(ZEB2):c.71dup (p.Asn24fs)
|
rs1553971826
|
|
NM_014946.4(SPAST):c.1375A>G (p.Arg459Gly)
|
rs1553318238
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer)
|
rs1555912709
|
|
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs)
|
rs1554401434
|
|
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)
|
rs1554480537
|
|
NM_016628.5(WAC):c.1437+1G>A
|
rs1554791124
|
|
NM_017635.5(KMT5B):c.255del (p.Ser86fs)
|
rs1555034768
|
|
NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs)
|
rs1558148010
|
|
NM_018489.3(ASH1L):c.6803_6804delinsTTCTCA (p.Cys2268fs)
|
rs1553245038
|
|
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)
|
rs761820222
|
|
NM_024665.7(TBL1XR1):c.874dup (p.Ile292fs)
|
rs1553813646
|
|
NM_024757.5(EHMT1):c.2214_2230dup (p.Phe744fs)
|
rs1554880275
|
|
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs)
|
rs1598091391
|
|
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)
|
rs1555566042
|
|
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)
|
rs786201003
|
|
NM_130837.3(OPA1):c.1035+1G>A
|
rs727504059
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_170675.5(MEIS2):c.825dup (p.Arg276fs)
|
rs1555456994
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|