NM_000088.4(COL1A1):c.104-441=
|
rs1800012
|
0.86103
|
NM_000088.3(COL1A1):c.-2116T=
|
rs1107946
|
0.20098
|
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
0.00009
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)
|
rs72656314
|
0.00001
|
COL1A1, 9-BP DEL
|
|
|
COL1A1, EX22DEL
|
|
|
NM_000088.3(COL1A1):c.-1782delT
|
rs11327935
|
|
NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys)
|
rs66721653
|
|
NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys)
|
rs72645365
|
|
NM_000088.4(COL1A1):c.1299+1G>C
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1301G>T (p.Gly434Val)
|
rs72648333
|
|
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser)
|
rs67682641
|
|
NM_000088.4(COL1A1):c.1598G>A (p.Gly533Asp)
|
rs72648356
|
|
NM_000088.4(COL1A1):c.1705G>C (p.Gly569Arg)
|
rs72648363
|
|
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)
|
rs66527965
|
|
NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys)
|
rs66527965
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp)
|
rs72651618
|
|
NM_000088.4(COL1A1):c.2110G>T (p.Gly704Cys)
|
rs67368147
|
|
NM_000088.4(COL1A1):c.2156G>A (p.Gly719Asp)
|
rs72651646
|
|
NM_000088.4(COL1A1):c.2210G>A (p.Gly737Asp)
|
rs72651651
|
|
NM_000088.4(COL1A1):c.2228G>T (p.Gly743Val)
|
rs72651653
|
|
NM_000088.4(COL1A1):c.2291G>T (p.Gly764Val)
|
rs72651657
|
|
NM_000088.4(COL1A1):c.2341_2451+60del
|
rs1906960583
|
|
NM_000088.4(COL1A1):c.2444G>T (p.Gly815Val)
|
rs66929517
|
|
NM_000088.4(COL1A1):c.2515G>A (p.Gly839Ser)
|
rs72653131
|
|
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg)
|
rs72653136
|
|
NM_000088.4(COL1A1):c.2552G>A (p.Gly851Asp)
|
rs72653137
|
|
NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys)
|
rs72653143
|
|
NM_000088.4(COL1A1):c.2686G>T (p.Gly896Cys)
|
rs72653152
|
|
NM_000088.4(COL1A1):c.2776G>T (p.Gly926Cys)
|
rs72653154
|
|
NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val)
|
rs72653166
|
|
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)
|
rs72653169
|
|
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser)
|
rs66523073
|
|
NM_000088.4(COL1A1):c.3073G>A (p.Gly1025Arg)
|
rs72653172
|
|
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)
|
rs72653178
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly)
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3182G>A (p.Gly1061Asp)
|
rs72654797
|
|
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)
|
rs72654802
|
|
NM_000088.4(COL1A1):c.3244G>T (p.Gly1082Cys)
|
rs72656303
|
|
NM_000088.4(COL1A1):c.3271G>A (p.Gly1091Ser)
|
rs72656306
|
|
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val)
|
rs72656321
|
|
NM_000088.4(COL1A1):c.3496G>T (p.Gly1166Cys)
|
rs72656324
|
|
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)
|
rs72656330
|
|
NM_000088.4(COL1A1):c.3551G>T (p.Gly1184Val)
|
rs72656331
|
|
NM_000088.4(COL1A1):c.3559G>A (p.Gly1187Ser)
|
rs72656332
|
|
NM_000088.4(COL1A1):c.3936G>T (p.Trp1312Cys)
|
rs72656343
|
|
NM_000088.4(COL1A1):c.3969dup (p.Val1324fs)
|
rs2144534312
|
|
NM_000088.4(COL1A1):c.4160C>T (p.Ala1387Val)
|
rs397514672
|
|
NM_000088.4(COL1A1):c.4247del (p.Thr1416fs)
|
rs398122835
|
|
NM_000088.4(COL1A1):c.4358_4362del (p.Glu1453fs)
|
rs72656352
|
|
NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro)
|
rs72656353
|
|
NM_000088.4(COL1A1):c.472-1G>A
|
rs72667020
|
|
NM_000088.4(COL1A1):c.472-2A>T
|
rs72667019
|
|
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)
|
rs72667022
|
|
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)
|
rs1114167408
|
|
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)
|
rs67828806
|
|
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala)
|
rs67828806
|
|
NM_000088.4(COL1A1):c.642+1G>A
|
rs67364703
|
|
NM_000088.4(COL1A1):c.661G>T (p.Gly221Cys)
|
rs72667037
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.944_1123dup (p.Gly320_Lys352delinsValSerThrProGlyProLeuGlyAspProTer)
|
rs2144577336
|
|
NM_000088.4(COL1A1):c.957+5G>A
|
rs72645350
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|