|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
|
NM_000288.4(PEX7):c.116A>C (p.His39Pro)
|
rs61753237
|
0.00003
|
|
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys)
|
rs542184779
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
0.00001
|
|
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile)
|
rs1354476372
|
0.00001
|
|
NM_001287.6(CLCN7):c.739-18G>A
|
rs371893553
|
0.00001
|
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
|
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)
|
|
|
|
NM_000237.3(LPL):c.991A>G (p.Lys331Glu)
|
rs2069982771
|
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
|
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp)
|
rs786205574
|
|
|
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
|
|
|
|
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)
|
rs2134533215
|
|
|
NM_000506.5(F2):c.1270G>A (p.Val424Met)
|
rs1310397756
|
|
|
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)
|
rs2134537035
|
|
|
NM_000506.5(F2):c.995G>C (p.Gly332Ala)
|
rs2134532862
|
|
|
NM_001044385.3(TMEM237):c.137-2A>G
|
|
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
|
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)
|
rs730882206
|
|
|
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del)
|
rs1568724567
|
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
|
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)
|
rs2045472442
|
|
|
NM_002855.5(NECTIN1):c.226C>T (p.Gln76Ter)
|
|
|
|
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)
|
|
|
|
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)
|
rs786205583
|
|
|
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)
|
rs267606726
|
|
|
NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)
|
|
|
|
NM_014780.5(CUL7):c.2863-1G>C
|
|
|
|
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=)
|
rs1553254322
|
|
|
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
|
|
|
|
NM_016100.5(NAA20):c.160A>G (p.Met54Val)
|
rs2146464332
|
|
|
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)
|
|
|
|
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)
|
rs761656636
|
|
|
NM_017721.5(CC2D1A):c.2711-2A>G
|
|
|
|
NM_018136.5(ASPM):c.3742-1G>C
|
|
|
|
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)
|
|
|
|
NM_018249.6(CDK5RAP2):c.5579T>A (p.Leu1860Ter)
|
|
|
|
NM_020661.4(AICDA):c.169G>A (p.Val57Met)
|
rs786205474
|
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
|
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)
|
rs1730093487
|
|
|
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)
|
rs375189195
|
|
|
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
|
|
|
|
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)
|
rs786205636
|
|
|
NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)
|
|
|
|
NM_198428.3(BBS9):c.1553-1G>A
|
|
|
|
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)
|
rs2138066721
|
|