|
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=)
|
rs1887957
|
0.75495
|
|
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr)
|
rs529208
|
0.47790
|
|
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=)
|
rs2297079
|
0.44487
|
|
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val)
|
rs506121
|
0.32449
|
|
NM_000551.4(VHL):c.340+648T>C
|
rs73024533
|
0.01009
|
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
|
NM_001905.4(CTPS1):c.1692-1G>C
|
rs145092287
|
0.00015
|
|
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys)
|
rs146603761
|
0.00014
|
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
|
NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met)
|
rs147992979
|
0.00004
|
|
NM_007059.4(KPTN):c.1021C>T (p.Arg341Trp)
|
rs755446490
|
0.00003
|
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
|
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
|
rs121909512
|
0.00001
|
|
NM_000551.4(VHL):c.340+770T>C
|
rs1346312258
|
0.00001
|
|
NM_000551.4(VHL):c.340+816A>C
|
rs1031288121
|
0.00001
|
|
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)
|
rs121908952
|
0.00001
|
|
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)
|
rs1275511136
|
0.00001
|
|
NM_018518.5(MCM10):c.764+5G>A
|
rs781204418
|
0.00001
|
|
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro)
|
rs1057521090
|
0.00001
|
|
NC_000001.11:g.12617576_12621500del
|
|
|
|
NC_000001.11:g.63129955_63141504dup
|
|
|
|
NC_000001.11:g.63395673_63749318del
|
|
|
|
NC_000006.12:g.7427051ACAA[1]
|
|
|
|
NC_000006.12:g.7673126T>C
|
|
|
|
NC_000023.11:g.25013829_25017090del
|
|
|
|
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
|
|
|
|
NM_000080.4(CHRNE):c.1032+1G>C
|
|
|
|
NM_000138.5(FBN1):c.4265del (p.Asn1422fs)
|
|
|
|
NM_000204.5(CFI):c.191C>T (p.Pro64Leu)
|
|
|
|
NM_000204.5(CFI):c.262C>A (p.Gln88Lys)
|
|
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
|
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg)
|
rs79555199
|
|
|
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys)
|
rs770569237
|
|
|
NM_000372.5(TYR):c.97A>G (p.Lys33Glu)
|
|
|
|
NM_000443.4(ABCB4):c.135+26A>G
|
|
|
|
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
|
|
|
|
NM_000484.4:c.226-7082_355+12976del
|
|
|
|
NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter)
|
rs1597798503
|
|
|
NM_001017915.3(INPP5D):c.1437+2T>C
|
|
|
|
NM_001029896.2(WDR45):c.341+4A>C
|
rs1602539322
|
|
|
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr)
|
rs761834154
|
|
|
NM_001099922.3(ALG13):c.2624G>A (p.Ser875Asn)
|
rs757522953
|
|
|
NM_001110556.2(FLNA):c.7545dup (p.Val2516fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001128225.3(SLC39A13):c.682G>C (p.Asp228His)
|
|
|
|
NM_001202.6(BMP4):c.370+441G>A
|
|
|
|
NM_001367561.1(DOCK7):c.5724+1G>T
|
|
|
|
NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
|
|
|
|
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)
|
rs781213892
|
|
|
NM_001374736.1(DST):c.16584_16587del (p.Asn5529fs)
|
|
|
|
NM_001391963.1(VDAC2):c.587A>G (p.Asn196Ser)
|
|
|
|
NM_001395413.1(POR):c.1484G>C (p.Arg495Pro)
|
|
|
|
NM_001458.5(FLNC):c.7511A>G (p.Asp2504Gly)
|
rs1585171977
|
|
|
NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter)
|
rs1571880832
|
|
|
NM_003052.5(SLC34A1):c.1175-3C>A
|
rs2127355139
|
|
|
NM_003052.5(SLC34A1):c.241dup (p.Glu81fs)
|
rs1174958403
|
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
|
NM_003722.5(TP63):c.1350-75_1492del
|
rs1577195893
|
|
|
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)
|
rs28939089
|
|
|
NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)
|
|
|
|
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del)
|
rs1554861545
|
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
|
NM_005336.6(HDLBP):c.1731+1G>A
|
|
|
|
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn)
|
rs1008156537
|
|
|
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu)
|
rs1575460231
|
|
|
NM_006009.4(TUBA1A):c.1268A>G (p.Glu423Gly)
|
|
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
|
NM_006363.6(SEC23B):c.1512-16A>G
|
|
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
|
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
|
rs1581987022
|
|
|
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
|
|
|
|
NM_014946.4(SPAST):c.1174-1G>A
|
rs1553317024
|
|
|
NM_014991.6(WDFY3):c.2345+1G>A
|
|
|
|
NM_016123.4(IRAK4):c.161+1G>A
|
|
|
|
NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
|
NM_016373.4(WWOX):c.705dup (p.His236fs)
|
rs1597216056
|
|
|
NM_016373.4:c.517-94998_1056+78427del
|
|
|
|
NM_017909.4(RMND1):c.108del (p.Phe36fs)
|
|
|
|
NM_018518.5(MCM10):c.236del (p.Gly79fs)
|
rs2131558198
|
|
|
NM_018713.3(SLC30A10):c.823T>A (p.Trp275Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
|
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
|
|
|
|
NM_032590.5(KDM2B):c.3305G>C (p.Trp1102Ser)
|
|
|
|
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)
|
rs387906632
|
|
|
NM_052874.5(STX1B):c.*3248A>G
|
|
|
|
NM_052874.5(STX1B):c.*3467dup
|
|
|
|
NM_138370.3(PKDCC):c.939dup (p.Leu314fs)
|
|
|
|
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)
|
rs34019455
|
|
|
NM_144658.4(DOCK11):c.1678_1679delinsGT (p.Ser560Val)
|
|
|
|
NM_152703.5(SAMD9L):c.[1076G>A;3353A>G]
|
|
|
|
NM_153240.5(NPHP3):c.1598G>A (p.Gly533Asp)
|
|
|
|
NM_173469.4(UBE2Q2):c.884+2293G>A
|
|
|
|
NM_173630.4(RTTN):c.2315G>A (p.Arg772His)
|
|
|
|
NM_173630.4(RTTN):c.2670_2670+2del
|
|
|
|
NM_178012.5(TUBB2B):c.1139G>A (p.Arg380His)
|
|
|
|
NM_178864.4(NPAS4):c.481_487del (p.Ser161fs)
|
|
|
|
NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer)
|
rs1584808269
|
|
|
NM_198576.4(AGRN):c.5722T>C (p.Trp1908Arg)
|
rs1570259411
|
|
|
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs)
|
rs869312169
|
|
|
Single allele
|
|
|