NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)
|
rs55989760
|
0.00018
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)
|
rs747956412
|
0.00003
|
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)
|
rs745870321
|
0.00003
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000478.6(ALPL):c.532T>C (p.Tyr178His)
|
rs1215600806
|
0.00001
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)
|
rs770606360
|
0.00001
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)
|
rs1157736285
|
|
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)
|
rs886040861
|
|
NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter)
|
rs1553986374
|
|
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln)
|
rs1555611692
|
|
NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr)
|
rs2113785077
|
|
NM_001080453.3(INTS1):c.3036del (p.Met1013fs)
|
rs1357982637
|
|
NM_001080453.3(INTS1):c.3430-2A>C
|
rs770569947
|
|
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)
|
rs746453662
|
|
NM_001110556.2(FLNA):c.7059del (p.Phe2353fs)
|
rs2148102202
|
|
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs)
|
rs2145051267
|
|
NM_001127392.3(MYRF):c.789dup (p.Ser264fs)
|
rs769274302
|
|
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
|
rs1851109762
|
|
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val)
|
rs751455326
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile)
|
rs1247870598
|
|
NM_001142864.4(PIEZO1):c.5716_5738del (p.Pro1906fs)
|
rs2142762329
|
|
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro)
|
rs2105822776
|
|
NM_001374353.1(GLI2):c.1889del (p.Lys630fs)
|
rs1573730110
|
|
NM_001378120.1(MBD5):c.936dup (p.Pro313fs)
|
rs2105627349
|
|
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro)
|
rs1597291380
|
|
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp)
|
rs1939463507
|
|
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter)
|
rs986393872
|
|
NM_002585.4(PBX1):c.817T>C (p.Cys273Arg)
|
rs2102336635
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter)
|
rs1602743059
|
|
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)
|
rs2147060430
|
|
NM_004985.5(KRAS):c.220A>C (p.Thr74Pro)
|
rs770020203
|
|
NM_005188.4(CBL):c.1169A>T (p.Asp390Val)
|
rs763058208
|
|
NM_005251.3(FOXC2):c.1027G>T (p.Glu343Ter)
|
rs1223233551
|
|
NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter)
|
rs2143969631
|
|
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
|
rs760571406
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006565.4(CTCF):c.1119T>A (p.His373Gln)
|
rs2142847350
|
|
NM_006565.4(CTCF):c.782-1G>C
|
rs2142827936
|
|
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro)
|
rs1400108198
|
|
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)
|
rs74315515
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_014009.4(FOXP3):c.648-2A>G
|
rs2147947553
|
|
NM_015355.4(SUZ12):c.1451del (p.Gly484fs)
|
rs2142215876
|
|
NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp)
|
rs2150739129
|
|
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter)
|
rs146596670
|
|
NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del)
|
|
|
NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter)
|
rs2148443341
|
|
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)
|
rs137962226
|
|
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp)
|
rs1555933616
|
|
NM_019042.5(PUS7):c.298_299del (p.Ser100fs)
|
rs2133254783
|
|
NM_019042.5(PUS7):c.640_641del (p.Leu214fs)
|
rs769379928
|
|
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile)
|
rs745702205
|
|
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu)
|
rs1574560025
|
|
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs)
|
rs1722830922
|
|
NM_032271.3(TRAF7):c.1112G>A (p.Arg371Gln)
|
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)
|
rs1565369746
|
|
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)
|
rs281874713
|
|
NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg)
|
rs1600577387
|
|
NM_207122.2(EXT2):c.1173G>A (p.Gln391=)
|
rs1457613214
|
|