|
NM_004608.4(TBX6):c.-49+34G>T
|
rs3809627
|
0.40816
|
|
NM_004608.4(TBX6):c.354-762T>C
|
rs115865007
|
0.00631
|
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
|
NM_022356.4(P3H1):c.1080+1G>T
|
rs72659351
|
0.00068
|
|
NM_016004.5(IFT52):c.157G>A (p.Val53Met)
|
rs137979762
|
0.00043
|
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
|
NR_023343.3(RNU4ATAC):n.8C>T
|
rs370715569
|
0.00025
|
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
|
NR_023343.3(RNU4ATAC):n.37G>A
|
rs756026847
|
0.00013
|
|
NM_006371.5(CRTAP):c.471+2C>A
|
rs137853943
|
0.00010
|
|
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter)
|
rs72659361
|
0.00009
|
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
|
NM_020928.2(ZSWIM6):c.31G>A (p.Ala11Thr)
|
rs1038709799
|
0.00006
|
|
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser)
|
rs764053825
|
0.00004
|
|
NM_021939.4(FKBP10):c.1402C>T (p.Arg468Trp)
|
rs542334549
|
0.00004
|
|
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser)
|
rs72651658
|
0.00001
|
|
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)
|
rs1270099780
|
0.00001
|
|
NM_003036.4(SKI):c.2026C>T (p.His676Tyr)
|
rs1376096484
|
0.00001
|
|
NM_006854.4(KDELR2):c.505C>T (p.Arg169Cys)
|
rs1363157649
|
0.00001
|
|
NM_015909.4(NBAS):c.5297T>C (p.Leu1766Pro)
|
rs1294584287
|
0.00001
|
|
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)
|
rs397514674
|
0.00001
|
|
NM_000088.4(COL1A1):c.2990dup (p.Gly998fs)
|
rs1598288648
|
|
|
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs)
|
|
|
|
NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter)
|
|
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
|
NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu)
|
rs72658116
|
|
|
NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys)
|
|
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
|
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)
|
rs72658179
|
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
|
NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)
|
rs72659306
|
|
|
NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg)
|
|
|
|
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)
|
rs1554395970
|
|
|
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)
|
rs906553840
|
|
|
NM_000095.3(COMP):c.1285_1286dup (p.Cys430fs)
|
|
|
|
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)
|
rs193922900
|
|
|
NM_000095.3(COMP):c.2092C>T (p.Arg698Ter)
|
rs763098832
|
|
|
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)
|
rs121918488
|
|
|
NM_000141.5(FGFR2):c.1700C>T (p.Ala567Val)
|
rs2133943742
|
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
|
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)
|
rs74315303
|
|
|
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter)
|
rs74315386
|
|
|
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)
|
rs104893989
|
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
|
NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe)
|
rs2153344901
|
|
|
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)
|
rs886039819
|
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
|
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp)
|
rs2136590361
|
|
|
NM_001852.4(COL9A2):c.1009-2A>C
|
rs2124065362
|
|
|
NM_001854.4(COL11A1):c.2862+3A>G
|
|
|
|
NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)
|
|
|
|
NM_002335.4(LRP5):c.787T>C (p.Cys263Arg)
|
rs2153139472
|
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
|
NM_003722.5(TP63):c.1670G>T (p.Gly557Val)
|
rs2108864735
|
|
|
NM_003995.4(NPR2):c.1117T>C (p.Tyr373His)
|
|
|
|
NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala)
|
|
|
|
NM_004260.4(RECQL4):c.-1C>T
|
|
|
|
NM_004273.5(CHST3):c.1109G>A (p.Arg370His)
|
rs1355385307
|
|
|
NM_004273.5(CHST3):c.141-1_141inv
|
|
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
|
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser)
|
rs2151319330
|
|
|
NM_004608.4(TBX6):c.373C>T (p.Arg125Ter)
|
|
|
|
NM_005430.4(WNT1):c.860dup (p.His287fs)
|
rs2137625424
|
|
|
NM_005515.4(MNX1):c.852+1G>A
|
rs1563700419
|
|
|
NM_005529.7(HSPG2):c.11890G>A (p.Gly3964Arg)
|
|
|
|
NM_005529.7(HSPG2):c.6259C>T (p.Arg2087Ter)
|
|
|
|
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)
|
rs1405064021
|
|
|
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)
|
rs193922921
|
|
|
NM_012330.4(KAT6B):c.3255AGA[3] (p.Glu1089_Asp1090insGlu)
|
|
|
|
NM_012330.4(KAT6B):c.3590del (p.Pro1197fs)
|
|
|
|
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val)
|
|
|
|
NM_015425.6(POLR1A):c.1612-3dup
|
|
|
|
NM_017633.3(TENT5A):c.749dup (p.Met251fs)
|
rs2127726557
|
|
|
NM_020223.4(FAM20C):c.600G>C (p.Pro200=)
|
rs201631664
|
|
|
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp)
|
rs138891224
|
|
|
NM_020754.4(ARHGAP31):c.2471C>T (p.Ser824Phe)
|
rs1395872373
|
|
|
NM_021224.6(ZNF462):c.3478G>A (p.Val1160Ile)
|
|
|
|
NM_021224.6(ZNF462):c.4147G>C (p.Asp1383His)
|
|
|
|
NM_021939.4(FKBP10):c.1276dup (p.Gln426fs)
|
rs1567856056
|
|
|
NM_022356.4(P3H1):c.2209T>C (p.Ter737Arg)
|
|
|
|
NM_022356.4(P3H1):c.927del (p.Phe309fs)
|
|
|
|
NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter)
|
rs1465820080
|
|