NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile)
|
rs150912414
|
0.00029
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)
|
rs374343844
|
0.00004
|
NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val)
|
rs587777189
|
0.00003
|
NM_002887.4(RARS1):c.5A>G (p.Asp2Gly)
|
rs672601372
|
0.00003
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
NM_138691.3(TMC1):c.236+1G>A
|
rs775428246
|
0.00003
|
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)
|
rs121917704
|
0.00002
|
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)
|
rs370694515
|
0.00001
|
NM_001031679.3(MSRB3):c.391-1G>A
|
rs751906778
|
0.00001
|
NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter)
|
rs587777192
|
0.00001
|
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)
|
rs398122992
|
0.00001
|
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
|
rs754162070
|
0.00001
|
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)
|
rs369656775
|
0.00001
|
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro)
|
rs879255657
|
0.00001
|
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)
|
rs387907150
|
0.00001
|
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)
|
rs1301400509
|
0.00001
|
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
|
|
|
NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del
|
|
|
NM_000163.5(GHR):c.267-2A>G
|
rs1757597156
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys)
|
rs372395294
|
|
NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del)
|
rs1060499940
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
NM_000335.5(SCN5A):c.6045G>A (p.Val2015=)
|
rs1060499941
|
|
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)
|
rs796065045
|
|
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)
|
rs869312909
|
|
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)
|
rs869312911
|
|
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)
|
rs773656789
|
|
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)
|
rs869312910
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
|
|
|
NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter)
|
rs919662130
|
|
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)
|
rs940325244
|
|
NM_001197104.2(KMT2A):c.5803-1G>A
|
rs1555044700
|
|
NM_001312673.2(PCYT1A):c.295G>A (p.Ala99Thr)
|
rs587777191
|
|
NM_001312673.2(PCYT1A):c.385G>A (p.Glu129Lys)
|
rs587777194
|
|
NM_001312673.2(PCYT1A):c.448C>G (p.Pro150Ala)
|
rs587777190
|
|
NM_001312673.2(PCYT1A):c.571T>C (p.Phe191Leu)
|
rs587777195
|
|
NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser)
|
rs540053239
|
|
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)
|
rs587777193
|
|
NM_001365902.3(NFIX):c.716C>G (p.Ser239Ter)
|
rs587779381
|
|
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs)
|
rs757946805
|
|
NM_001370466.1(NOD2):c.1639C>T (p.Gln547Ter)
|
rs1264862631
|
|
NM_001378452.1(ITPR1):c.2979_2980insTATA (p.Val994fs)
|
rs1553689752
|
|
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer)
|
rs398122991
|
|
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter)
|
rs398122995
|
|
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs)
|
rs398122993
|
|
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs)
|
rs398122994
|
|
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg)
|
rs869312907
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_002296.4(LBR):c.226C>T (p.Arg76Ter)
|
rs869312905
|
|
NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs)
|
rs869312908
|
|
NM_002633.3(PGM1):c.1091del (p.Asn364fs)
|
rs1557437034
|
|
NM_002887.4(RARS1):c.1846_1847del (p.Tyr616fs)
|
rs1064792894
|
|
NM_002906.4(RDX):c.551+2T>C
|
rs1591158999
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)
|
rs387907306
|
|
NM_003036.4(SKI):c.101G>A (p.Gly34Asp)
|
rs387907305
|
|
NM_003036.4(SKI):c.103C>T (p.Pro35Ser)
|
rs397514590
|
|
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del)
|
rs398122889
|
|
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
|
rs387907303
|
|
NM_003036.4(SKI):c.349G>C (p.Gly117Arg)
|
rs869312901
|
|
NM_003036.4(SKI):c.62T>G (p.Leu21Arg)
|
rs869312902
|
|
NM_003036.4(SKI):c.94C>G (p.Leu32Val)
|
rs387907304
|
|
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His)
|
rs387907278
|
|
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs)
|
rs398122884
|
|
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)
|
rs398122883
|
|
NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter)
|
rs760759052
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
|
rs869312903
|
|
NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter)
|
rs1555188129
|
|
NM_003482.4(KMT2D):c.13207_13208del (p.Asn4403fs)
|
rs1555187577
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
NM_003482.4(KMT2D):c.8366+1G>T
|
rs1057518149
|
|
NM_003791.4(MBTPS1):c.2948G>A (p.Trp983Ter)
|
rs2085516391
|
|
NM_004782.4(SNAP29):c.223del (p.Val75fs)
|
rs869312906
|
|
NM_006767.4(LZTR1):c.320+1del
|
rs1569153870
|
|
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)
|
rs1569154722
|
|
NM_013335.4(GMPPA):c.853+1G>A
|
rs1553624347
|
|
NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)
|
rs387906896
|
|
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
|
|
|
NM_016222.3:c.[711G>T;712C>A]
|
|
|
NM_018668.5(VPS33B):c.350del (p.Pro117fs)
|
rs1555459968
|
|
NM_022817.3(PER2):c.595del (p.Leu199fs)
|
rs1559332542
|
|
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)
|
rs863223403
|
|
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys)
|
rs778100619
|
|
NM_194248.3(OTOF):c.2443del (p.Gln815fs)
|
rs1558485249
|
|
NM_194248.3(OTOF):c.4362+1G>C
|
rs1274464930
|
|
NM_207122.2(EXT2):c.314del (p.Lys105fs)
|
rs1954084273
|
|
NM_212482.4(FN1):c.685+1G>C
|
rs113683179
|
|
Single allele
|
|
|