NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
NM_000393.5(COL5A2):c.1A>G (p.Met1Val)
|
rs563606558
|
0.00001
|
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr)
|
rs756434709
|
0.00001
|
NM_000093.5(COL5A1):c.841del (p.Glu281fs)
|
rs1554787779
|
|
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs)
|
rs2113698812
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.4725_4726insTACACATCCTTGTGAG (p.Met1576delinsTyrThrSerLeuTer)
|
rs2141272274
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe)
|
rs1555395645
|
|
NM_000346.4(SOX9):c.1132C>T (p.Gln378Ter)
|
rs2143254539
|
|
NM_000346.4(SOX9):c.1379_1380dup (p.Gly461fs)
|
rs2143257416
|
|
NM_000346.4(SOX9):c.68del (p.Ser23fs)
|
rs2143236734
|
|
NM_000451.4(SHOX):c.348del (p.Lys116fs)
|
rs2124165604
|
|
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser)
|
rs104894948
|
|
NM_001189.4(NKX3-2):c.94_100dup (p.Pro34fs)
|
rs2109005842
|
|
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)
|
rs80356506
|
|
NM_001457.4(FLNB):c.541+1G>A
|
rs2106947027
|
|
NM_001844.5(COL2A1):c.1267-2A>G
|
rs2136576254
|
|
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser)
|
rs2136571594
|
|
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp)
|
rs1555167139
|
|
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu)
|
rs2136567637
|
|
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp)
|
rs2136546742
|
|
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala)
|
rs1939004215
|
|
NM_001844.5(COL2A1):c.2680-1G>A
|
rs2136532474
|
|
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg)
|
rs2136526413
|
|
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys)
|
rs2136525233
|
|
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp)
|
rs2136525107
|
|
NM_001844.5(COL2A1):c.4317+1G>A
|
rs2136504667
|
|
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)
|
rs527236145
|
|
NM_001844.5(COL2A1):c.604_609+2del
|
rs2136621947
|
|
NM_001851.6(COL9A1):c.9dup (p.Cys4fs)
|
rs1404756199
|
|
NM_001853.4(COL9A3):c.528dup (p.Ile177fs)
|
rs2147205530
|
|
NM_001853.4(COL9A3):c.638del (p.Pro213fs)
|
rs2147208638
|
|
NM_001854.4(COL11A1):c.4140+3A>T
|
rs1553196515
|
|
NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter)
|
rs2057009434
|
|
NM_004239.4(TRIP11):c.2949_2952del (p.Gln984fs)
|
rs1447415684
|
|
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
|
rs104894800
|
|
NM_021625.5(TRPV4):c.2146G>A (p.Ala716Thr)
|
rs121912635
|
|
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)
|
rs1437304335
|
|