NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)
|
rs201922477
|
0.00031
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
NM_003937.3(KYNU):c.563G>A (p.Arg188Gln)
|
rs2304705
|
0.00023
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met)
|
rs749925578
|
0.00006
|
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)
|
rs756363870
|
0.00004
|
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)
|
rs760768475
|
0.00003
|
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val)
|
rs370121305
|
0.00003
|
NM_001734.5(C1S):c.347A>G (p.Asn116Ser)
|
rs782390414
|
0.00003
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys)
|
rs770271259
|
0.00001
|
NM_000478.6(ALPL):c.212G>A (p.Arg71His)
|
rs121918003
|
0.00001
|
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)
|
rs769154907
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)
|
rs765863571
|
0.00001
|
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu)
|
rs375606930
|
0.00001
|
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)
|
rs1402362655
|
0.00001
|
NM_032634.4(PIGO):c.95G>A (p.Arg32His)
|
rs550039576
|
0.00001
|
NM_000027.4(AGA):c.722C>A (p.Pro241His)
|
|
|
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg)
|
rs2115875606
|
|
NM_000090.4(COL3A1):c.4023C>T (p.Gly1341=)
|
|
|
NM_000093.5(COL5A1):c.1781G>A (p.Arg594Gln)
|
|
|
NM_000093.5(COL5A1):c.4176+1G>T
|
|
|
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)
|
rs398123224
|
|
NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly)
|
|
|
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
|
|
|
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
|
|
|
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
|
|
|
NM_000478.6(ALPL):c.877_882del (p.Gly293_Asp294del)
|
|
|
NM_000516.7(GNAS):c.967G>C (p.Asp323His)
|
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)
|
|
|
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly)
|
rs751031650
|
|
NM_001080517.3(SETD5):c.2635G>A (p.Glu879Lys)
|
|
|
NM_001081550.2(THOC2):c.4643A>C (p.Glu1548Ala)
|
|
|
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser)
|
rs1599570613
|
|
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter)
|
rs1555710223
|
|
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
|
|
|
NM_001193315.2(VIPAS39):c.1048-1G>T
|
|
|
NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)
|
|
|
NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)
|
|
|
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter)
|
rs748223125
|
|
NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln)
|
rs772454700
|
|
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
|
|
|
NM_001365276.2(TNXB):c.9226C>T (p.Leu3076Phe)
|
|
|
NM_001374353.1(GLI2):c.4495A>G (p.Met1499Val)
|
|
|
NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser)
|
|
|
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)
|
|
|
NM_001378183.1(PIEZO2):c.3450+2T>G
|
|
|
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)
|
|
|
NM_001734.5(C1S):c.2T>C (p.Met1Thr)
|
|
|
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
|
|
|
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
|
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002860.4(ALDH18A1):c.71C>T (p.Thr24Ile)
|
|
|
NM_003107.3(SOX4):c.373_378del (p.Asp125_Tyr126del)
|
|
|
NM_003482.4(KMT2D):c.4853T>C (p.Leu1618Pro)
|
|
|
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)
|
rs1452715535
|
|
NM_003722.5(TP63):c.799G>A (p.Val267Ile)
|
rs768752805
|
|
NM_004423.4(DVL3):c.292del (p.Glu98fs)
|
|
|
NM_004991.4(MECOM):c.3065C>T (p.Ala1022Val)
|
|
|
NM_004991.4(MECOM):c.405C>A (p.Phe135Leu)
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
|
|
|
NM_006939.4(SOS2):c.949G>A (p.Ala317Thr)
|
rs2139702095
|
|
NM_013275.6(ANKRD11):c.5358C>G (p.Asn1786Lys)
|
|
|
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)
|
|
|
NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)
|
|
|
NM_015570.4(AUTS2):c.895T>C (p.Cys299Arg)
|
|
|
NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val)
|
|
|
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)
|
|
|
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
|
|
|
NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del)
|
rs1328266877
|
|
NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro)
|
|
|
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg)
|
rs545055517
|
|
NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp)
|
|
|
NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)
|
|
|
NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg)
|
|
|
NM_170606.3(KMT2C):c.1361T>A (p.Leu454Gln)
|
|
|
NM_170606.3(KMT2C):c.7067C>G (p.Pro2356Arg)
|
|
|
NM_170606.3(KMT2C):c.9262+1G>A
|
|
|
NM_178012.5(TUBB2B):c.22C>T (p.Gln8Ter)
|
|
|