|
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
|
NM_001844.5(COL2A1):c.446G>A (p.Arg149His)
|
rs763538232
|
0.00002
|
|
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)
|
rs1380248932
|
0.00001
|
|
NM_007317.3(KIF22):c.1387A>G (p.Thr463Ala)
|
rs757545358
|
0.00001
|
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
|
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)
|
rs973621936
|
0.00001
|
|
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)
|
|
|
|
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)
|
|
|
|
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs)
|
rs1555572401
|
|
|
NM_000088.4(COL1A1):c.299-2A>G
|
|
|
|
NM_000112.4(SLC26A2):c.-26+1G>A
|
|
|
|
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)
|
rs121918487
|
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
|
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys)
|
rs1683106396
|
|
|
NM_000346.4(SOX9):c.432-2A>T
|
rs1908139210
|
|
|
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg)
|
rs137852559
|
|
|
NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser)
|
rs1554442015
|
|
|
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln)
|
rs104893995
|
|
|
NM_001024630.4(RUNX2):c.884del (p.Pro295fs)
|
rs2150421218
|
|
|
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)
|
rs1588307140
|
|
|
NM_001174147.2(LMX1B):c.741+1G>A
|
rs1427331961
|
|
|
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
|
|
|
|
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter)
|
rs775301566
|
|
|
NM_001844.5(COL2A1):c.1420-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
|
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
|
|
|
|
NM_001851.6(COL9A1):c.1450-1G>T
|
|
|
|
NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)
|
|
|
|
NM_001854.4(COL11A1):c.1245+6T>A
|
rs2101944852
|
|
|
NM_001854.4(COL11A1):c.3276+1G>C
|
rs2101406339
|
|
|
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)
|
rs104893637
|
|
|
NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter)
|
|
|
|
NM_004247.4(EFTUD2):c.1719+1G>A
|
rs2145460853
|
|
|
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met)
|
rs781402078
|
|
|
NM_004247.4(EFTUD2):c.702+2T>C
|
|
|
|
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
|
|
|
|
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
|
|
|
|
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter)
|
rs2150886525
|
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
|
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser)
|
rs2133358146
|
|
|
NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe)
|
|
|