NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_000088.4(COL1A1):c.2830-33C>G
|
rs2586489
|
0.99956
|
NM_000088.4(COL1A1):c.3223= (p.Ala1075=)
|
rs1800215
|
0.97286
|
NM_000088.4(COL1A1):c.2028+39C>T
|
rs2857396
|
0.85962
|
NM_000088.4(COL1A1):c.1984-41G>A
|
rs2586490
|
0.70223
|
NM_000088.4(COL1A1):c.3261+31T>C
|
rs2586488
|
0.66062
|
NM_000088.4(COL1A1):c.299-20C>G
|
rs2256835
|
0.54824
|
NM_000088.4(COL1A1):c.588+33T>C
|
rs35231764
|
0.22664
|
NM_000088.4(COL1A1):c.3815-35T>C
|
rs2277632
|
0.18865
|
NM_000088.4(COL1A1):c.3532-12C>T
|
rs200458986
|
0.00002
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000088.4(COL1A1):c.3045+11C>T
|
rs201349683
|
0.00001
|
NM_000088.4(COL1A1):c.103+16T>C
|
rs548069648
|
|
NM_000088.4(COL1A1):c.1057G>A (p.Gly353Ser)
|
rs66721653
|
|
NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys)
|
rs66721653
|
|
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)
|
rs1907516553
|
|
NM_000088.4(COL1A1):c.1127del (p.Pro376fs)
|
rs72645369
|
|
NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser)
|
rs72648313
|
|
NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser)
|
rs72648322
|
|
NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)
|
rs72648325
|
|
NM_000088.4(COL1A1):c.1299+1G>C
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1631del (p.Pro544fs)
|
|
|
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)
|
rs72651614
|
|
NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter)
|
rs72651615
|
|
NM_000088.4(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp)
|
rs72651618
|
|
NM_000088.4(COL1A1):c.1891_1895del (p.Glu630_Arg631insTer)
|
rs2144563843
|
|
NM_000088.4(COL1A1):c.2110G>T (p.Gly704Cys)
|
rs67368147
|
|
NM_000088.4(COL1A1):c.2335G>A (p.Gly779Ser)
|
rs72651661
|
|
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)
|
rs67693970
|
|
NM_000088.4(COL1A1):c.2490del (p.Asp831fs)
|
rs1906940130
|
|
NM_000088.4(COL1A1):c.2515G>A (p.Gly839Ser)
|
rs72653131
|
|
NM_000088.4(COL1A1):c.2523del (p.Gly842fs)
|
rs72653133
|
|
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser)
|
rs369455732
|
|
NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala)
|
|
|
NM_000088.4(COL1A1):c.2775del (p.Gly926fs)
|
rs878853274
|
|
NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala)
|
rs2144549155
|
|
NM_000088.4(COL1A1):c.2990dup (p.Gly998fs)
|
rs1598288648
|
|
NM_000088.4(COL1A1):c.299_300delAG
|
rs193922154
|
|
NM_000088.4(COL1A1):c.3001G>A (p.Gly1001Ser)
|
|
|
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)
|
rs72653169
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)
|
rs1260429820
|
|
NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro)
|
rs762805085
|
|
NM_000088.4(COL1A1):c.3655G>A (p.Asp1219Asn)
|
rs72656338
|
|
NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)
|
|
|
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)
|
rs1114167402
|
|
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)
|
rs1203106659
|
|
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp)
|
rs34940368
|
|
NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu)
|
rs754555549
|
|
NM_000088.4(COL1A1):c.423del (p.Gly142fs)
|
|
|
NM_000088.4(COL1A1):c.4292C>T (p.Thr1431Ile)
|
rs1114167403
|
|
NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)
|
|
|
NM_000088.4(COL1A1):c.642+1G>A
|
rs67364703
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|