NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)
|
rs140528529
|
0.00203
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_001378778.1(MPDZ):c.2194T>A (p.Ser732Thr)
|
rs200475640
|
0.00138
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_001369268.1(ACAN):c.5567G>A (p.Ser1856Asn)
|
rs200762388
|
0.00098
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_002160.4(TNC):c.3196C>T (p.Arg1066Cys)
|
rs139280264
|
0.00079
|
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)
|
rs116506614
|
0.00073
|
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)
|
rs139480342
|
0.00068
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_002160.4(TNC):c.1297G>A (p.Asp433Asn)
|
rs147990968
|
0.00052
|
NM_015978.3(TNNI3K):c.1528G>T (p.Val510Leu)
|
rs34335537
|
0.00046
|
NM_018451.5(CPAP):c.2785A>G (p.Lys929Glu)
|
rs141844033
|
0.00046
|
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)
|
rs199747378
|
0.00041
|
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)
|
rs149558726
|
0.00036
|
NM_000642.3(AGL):c.854G>A (p.Arg285Gln)
|
rs144817648
|
0.00026
|
NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln)
|
rs184913582
|
0.00026
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)
|
rs142151614
|
0.00022
|
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
|
rs140692906
|
0.00021
|
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)
|
rs112967046
|
0.00020
|
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)
|
rs140954784
|
0.00019
|
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)
|
rs200095753
|
0.00019
|
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
NM_001369268.1(ACAN):c.1948G>A (p.Val650Met)
|
rs201414869
|
0.00015
|
NM_000642.3(AGL):c.4076G>A (p.Arg1359His)
|
rs201533636
|
0.00014
|
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)
|
rs138001307
|
0.00014
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00014
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_022772.4(EPS8L2):c.13G>A (p.Gly5Arg)
|
rs375020679
|
0.00012
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)
|
rs147619875
|
0.00011
|
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)
|
rs374991526
|
0.00010
|
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)
|
rs370797337
|
0.00009
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)
|
rs200973262
|
0.00008
|
NM_001080432.3(FTO):c.185A>G (p.His62Arg)
|
rs550932456
|
0.00008
|
NM_005908.4(MANBA):c.1916G>A (p.Arg639His)
|
rs536744758
|
0.00008
|
NM_018451.5(CPAP):c.1849C>T (p.Pro617Ser)
|
rs573822147
|
0.00008
|
NM_018451.5(CPAP):c.659C>T (p.Ser220Leu)
|
rs201219786
|
0.00008
|
NM_001378778.1(MPDZ):c.5183T>C (p.Leu1728Pro)
|
rs772792353
|
0.00006
|
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)
|
rs201847956
|
0.00006
|
NM_004341.5(CAD):c.2297T>C (p.Met766Thr)
|
rs138025761
|
0.00006
|
NM_004999.4(MYO6):c.1589A>T (p.Asp530Val)
|
rs373929865
|
0.00006
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
NM_001378609.3(OTOGL):c.975del (p.Leu325fs)
|
rs766753922
|
0.00005
|
NM_018451.5(CENPJ):c.1749A>C (p.Gln583His)
|
rs746938343
|
0.00005
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_001145809.2(MYH14):c.3237G>T (p.Lys1079Asn)
|
rs370658125
|
0.00004
|
NM_001145809.2(MYH14):c.4946G>A (p.Arg1649Gln)
|
rs368076336
|
0.00004
|
NM_001364905.1(LRBA):c.109C>T (p.Pro37Ser)
|
rs374519451
|
0.00004
|
NM_001364905.1(LRBA):c.319C>A (p.Gln107Lys)
|
rs373476644
|
0.00004
|
NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys)
|
rs147024680
|
0.00004
|
NM_012418.4(FSCN2):c.65G>A (p.Arg22His)
|
rs200258773
|
0.00004
|
NM_012418.4(FSCN2):c.733C>T (p.Arg245Ter)
|
rs781864584
|
0.00004
|
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile)
|
rs776033238
|
0.00003
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
NM_004341.5(CAD):c.3008A>G (p.Tyr1003Cys)
|
rs367833212
|
0.00003
|
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)
|
rs183758503
|
0.00003
|
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu)
|
rs1260916310
|
0.00001
|
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser)
|
rs1003748020
|
0.00001
|
NM_000642.3(AGL):c.809G>A (p.Gly270Glu)
|
rs1466350775
|
0.00001
|
NM_001148.6(ANK2):c.3979A>G (p.Met1327Val)
|
rs778074732
|
0.00001
|
NM_001378778.1(MPDZ):c.4879G>A (p.Glu1627Lys)
|
rs772598863
|
0.00001
|
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)
|
rs775660447
|
0.00001
|
NM_002470.4(MYH3):c.787G>T (p.Asp263Tyr)
|
rs771509347
|
0.00001
|
NM_015978.3(TNNI3K):c.1477C>T (p.Arg493Ter)
|
rs201857576
|
0.00001
|
NM_015978.3(TNNI3K):c.1526A>T (p.Glu509Val)
|
rs760008465
|
0.00001
|
NM_015978.3(TNNI3K):c.187C>T (p.Arg63Cys)
|
rs79045456
|
0.00001
|
NM_000081.4(LYST):c.116T>A (p.Met39Lys)
|
|
|
NM_000081.4(LYST):c.9314A>C (p.Lys3105Thr)
|
|
|
NM_000642.3(AGL):c.1643C>T (p.Pro548Leu)
|
|
|
NM_001039141.3(TRIOBP):c.6560T>C (p.Leu2187Pro)
|
|
|
NM_001039141.3(TRIOBP):c.6911G>A (p.Arg2304Gln)
|
|
|
NM_001080432.3(FTO):c.1154A>C (p.Gln385Pro)
|
|
|
NM_001080432.3(FTO):c.287G>A (p.Arg96His)
|
rs139577103
|
|
NM_001080477.4(TENM3):c.1847A>T (p.Asp616Val)
|
|
|
NM_001080477.4(TENM3):c.2065G>A (p.Gly689Ser)
|
|
|
NM_001080477.4(TENM3):c.3400G>A (p.Gly1134Arg)
|
|
|
NM_001080477.4(TENM3):c.5243A>G (p.Glu1748Gly)
|
|
|
NM_001080477.4(TENM3):c.5504G>A (p.Gly1835Asp)
|
|
|
NM_001080779.2(MYO1C):c.1232G>A (p.Trp411Ter)
|
|
|
NM_001080779.2(MYO1C):c.1316A>T (p.Asn439Ile)
|
|
|
NM_001080779.2(MYO1C):c.1351G>A (p.Glu451Lys)
|
|
|
NM_001080779.2(MYO1C):c.185C>T (p.Ala62Val)
|
|
|
NM_001080779.2(MYO1C):c.2252G>A (p.Arg751Gln)
|
|
|
NM_001080779.2(MYO1C):c.427G>A (p.Gly143Arg)
|
|
|
NM_001080779.2(MYO1C):c.775C>T (p.Arg259Trp)
|
|
|
NM_001128840.3(CACNA1D):c.1105G>A (p.Val369Met)
|
|
|
NM_001128840.3(CACNA1D):c.5848C>T (p.Pro1950Ser)
|
|
|
NM_001145809.2(MYH14):c.3931C>T (p.Arg1311Trp)
|
|
|
NM_001145809.2(MYH14):c.5921C>T (p.Ser1974Phe)
|
|
|
NM_001145809.2(MYH14):c.727G>C (p.Glu243Gln)
|
|
|
NM_001148.6(ANK2):c.37G>T (p.Gly13Ter)
|
|
|
NM_001148.6(ANK2):c.49A>G (p.Asn17Asp)
|
|
|
NM_001148.6(ANK2):c.7347C>G (p.His2449Gln)
|
|
|
NM_001177693.2(ARHGEF28):c.1027C>T (p.Arg343Cys)
|
|
|
NM_001177693.2(ARHGEF28):c.1865C>A (p.Thr622Asn)
|
|
|
NM_001177693.2(ARHGEF28):c.1982C>T (p.Ser661Phe)
|
|
|
NM_001177693.2(ARHGEF28):c.4172C>A (p.Thr1391Asn)
|
|
|
NM_001177693.2(ARHGEF28):c.4835T>C (p.Leu1612Pro)
|
|
|
NM_001364905.1(LRBA):c.1348C>T (p.Leu450Phe)
|
|
|
NM_001364905.1(LRBA):c.4048A>T (p.Asn1350Tyr)
|
|
|
NM_001365951.3(KIF1B):c.4126C>T (p.Pro1376Ser)
|
|
|
NM_001365951.3(KIF1B):c.4675A>G (p.Thr1559Ala)
|
|
|
NM_001369268.1(ACAN):c.5726C>G (p.Ser1909Cys)
|
|
|
NM_001369268.1(ACAN):c.5756C>T (p.Ser1919Leu)
|
|
|
NM_001378609.3(OTOGL):c.1556C>T (p.Thr519Met)
|
|
|
NM_001378609.3(OTOGL):c.3413T>G (p.Ile1138Ser)
|
|
|
NM_001378609.3(OTOGL):c.3544G>A (p.Ala1182Thr)
|
|
|
NM_001378609.3(OTOGL):c.5145G>A (p.Trp1715Ter)
|
|
|
NM_001378778.1(MPDZ):c.1739C>G (p.Ser580Cys)
|
rs149265684
|
|
NM_001378778.1(MPDZ):c.3583C>A (p.Pro1195Thr)
|
|
|
NM_001378778.1(MPDZ):c.4295A>T (p.Asn1432Ile)
|
|
|
NM_001378778.1(MPDZ):c.791G>A (p.Gly264Glu)
|
|
|
NM_001852.4(COL9A2):c.313G>A (p.Gly105Arg)
|
|
|
NM_001854.4(COL11A1):c.497G>T (p.Arg166Leu)
|
|
|
NM_002160.4(TNC):c.1873C>T (p.Pro625Ser)
|
|
|
NM_002160.4(TNC):c.2129C>T (p.Thr710Met)
|
|
|
NM_002160.4(TNC):c.2227G>A (p.Glu743Lys)
|
|
|
NM_002160.4(TNC):c.2512G>A (p.Gly838Ser)
|
|
|
NM_002160.4(TNC):c.2705T>A (p.Val902Asp)
|
|
|
NM_002160.4(TNC):c.608G>T (p.Gly203Val)
|
|
|
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
|
|
|
NM_002334.4(LRP4):c.2143C>T (p.Pro715Ser)
|
|
|
NM_002334.4(LRP4):c.860G>C (p.Trp287Ser)
|
|
|
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg)
|
rs199513213
|
|
NM_002470.4(MYH3):c.3104T>G (p.Leu1035Arg)
|
|
|
NM_002470.4(MYH3):c.5345G>A (p.Arg1782Gln)
|
|
|
NM_002470.4(MYH3):c.545G>C (p.Gly182Ala)
|
|
|
NM_003898.4(SYNJ2):c.1637G>A (p.Arg546Gln)
|
|
|
NM_003898.4(SYNJ2):c.179C>T (p.Ala60Val)
|
|
|
NM_003898.4(SYNJ2):c.1850G>A (p.Arg617His)
|
|
|
NM_003898.4(SYNJ2):c.559G>A (p.Gly187Arg)
|
|
|
NM_003898.4(SYNJ2):c.901G>A (p.Val301Met)
|
|
|
NM_004341.5(CAD):c.3494C>T (p.Ala1165Val)
|
|
|
NM_004341.5(CAD):c.5785G>A (p.Val1929Ile)
|
|
|
NM_004431.5(EPHA2):c.556G>A (p.Gly186Ser)
|
|
|
NM_004431.5(EPHA2):c.943C>T (p.Arg315Trp)
|
|
|
NM_004999.4(MYO6):c.1445A>G (p.Gln482Arg)
|
|
|
NM_004999.4(MYO6):c.883C>T (p.Arg295Cys)
|
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_012418.4(FSCN2):c.368C>T (p.Thr123Ile)
|
|
|
NM_012418.4(FSCN2):c.664A>G (p.Lys222Glu)
|
|
|
NM_014520.4(MYBBP1A):c.2407C>T (p.Arg803Cys)
|
|
|
NM_014520.4(MYBBP1A):c.2419C>T (p.Arg807Trp)
|
|
|
NM_014520.4(MYBBP1A):c.2551C>T (p.Pro851Ser)
|
|
|
NM_014520.4(MYBBP1A):c.2906T>A (p.Leu969Ter)
|
|
|
NM_014520.4(MYBBP1A):c.3349C>T (p.Gln1117Ter)
|
|
|
NM_015226.3(CLEC16A):c.1501G>A (p.Val501Met)
|
|
|
NM_015226.3(CLEC16A):c.2066C>T (p.Pro689Leu)
|
|
|
NM_015226.3(CLEC16A):c.913C>T (p.Arg305Trp)
|
|
|
NM_015978.3(TNNI3K):c.1389T>G (p.Ile463Met)
|
|
|
NM_018451.5(CENPJ):c.1220C>A (p.Ser407Tyr)
|
|
|
NM_018451.5(CENPJ):c.3538G>T (p.Glu1180Ter)
|
|
|
NM_018451.5(CENPJ):c.3539A>G (p.Glu1180Gly)
|
|
|
NM_018451.5(CPAP):c.3653C>T (p.Thr1218Met)
|
rs149855336
|
|
NM_022065.5(THADA):c.2006A>G (p.Tyr669Cys)
|
|
|
NM_022065.5(THADA):c.2497G>A (p.Ala833Thr)
|
|
|
NM_022065.5(THADA):c.3715A>T (p.Ile1239Phe)
|
|
|
NM_022065.5(THADA):c.4911G>A (p.Trp1637Ter)
|
|
|
NM_022065.5(THADA):c.5293A>C (p.Thr1765Pro)
|
|
|
NM_022772.4(EPS8L2):c.1141C>T (p.Arg381Cys)
|
|
|
NM_022772.4(EPS8L2):c.805T>C (p.Phe269Leu)
|
|
|
NM_022772.4(EPS8L2):c.814C>T (p.Arg272Trp)
|
rs766514830
|
|
NM_022772.4(EPS8L2):c.922C>T (p.Pro308Ser)
|
|
|
NM_024718.5(RABL6):c.1094C>T (p.Ser365Leu)
|
|
|
NM_024718.5(RABL6):c.1294C>T (p.Leu432=)
|
|
|
NM_024718.5(RABL6):c.842G>A (p.Gly281Asp)
|
|
|
NM_080683.3(PTPN13):c.1625A>G (p.Glu542Gly)
|
|
|
NM_080683.3(PTPN13):c.1931C>T (p.Pro644Leu)
|
|
|
NM_080683.3(PTPN13):c.4184T>G (p.Ile1395Ser)
|
|
|
NM_080683.3(PTPN13):c.7360G>A (p.Glu2454Lys)
|
|
|
NM_206996.4(SPAG17):c.1981del (p.Gln661fs)
|
|
|
NM_206996.4(SPAG17):c.2545T>G (p.Tyr849Asp)
|
|
|
NM_206996.4(SPAG17):c.508A>T (p.Lys170Ter)
|
|
|