NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_018699.4(PRDM5):c.1282+9C>T
|
rs79915407
|
0.00011
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)
|
rs761259908
|
0.00002
|
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
|
rs1191721014
|
0.00002
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)
|
rs1490728700
|
0.00001
|
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)
|
rs1438879558
|
0.00001
|
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)
|
rs746155819
|
0.00001
|
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)
|
rs267606815
|
0.00001
|
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
|
rs1557178278
|
0.00001
|
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)
|
rs887755283
|
0.00001
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
NM_000093.5(COL5A1):c.1495-7T>A
|
rs1835738568
|
|
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.2646+16del
|
rs1837447151
|
|
NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)
|
rs1837850102
|
|
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)
|
rs1839191116
|
|
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser)
|
rs1834748686
|
|
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala)
|
rs754640324
|
|
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)
|
rs1685766586
|
|
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)
|
rs1685515304
|
|
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)
|
rs145100971
|
|
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)
|
rs1685449943
|
|
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)
|
rs782178831
|
|
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys)
|
rs2067685860
|
|
NM_001110556.2(FLNA):c.622+5G>C
|
rs2067774568
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
NM_001733.7(C1R):c.646C>A (p.Pro216Thr)
|
rs367700816
|
|
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His)
|
rs1769481285
|
|
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu)
|
rs1253194188
|
|
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr)
|
rs1769231502
|
|
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val)
|
rs1769138600
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)
|
rs759022476
|
|