NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)
|
rs66664580
|
0.00001
|
NM_000088.4(COL1A1):c.1354-12G>A
|
rs72648337
|
0.00001
|
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys)
|
rs1213427451
|
0.00001
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser)
|
rs72651658
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)
|
rs72656314
|
0.00001
|
NM_000088.3(COL1A1):c.3371del
|
|
|
NM_000088.4(COL1A1):c.104-1G>T
|
rs1555575456
|
|
NM_000088.4(COL1A1):c.104-2A>T
|
rs2144594870
|
|
NM_000088.4(COL1A1):c.1066G>A (p.Gly356Ser)
|
|
|
NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu)
|
rs1085307454
|
|
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)
|
rs72645366
|
|
NM_000088.4(COL1A1):c.1127del (p.Pro376fs)
|
rs72645369
|
|
NM_000088.4(COL1A1):c.1127dup (p.Gly377fs)
|
rs72645369
|
|
NM_000088.4(COL1A1):c.1128del (p.Gly377fs)
|
rs72645370
|
|
NM_000088.4(COL1A1):c.1174G>A (p.Gly392Arg)
|
|
|
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)
|
rs2144576822
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp)
|
rs1135401953
|
|
NM_000088.4(COL1A1):c.1252del (p.Ser418fs)
|
rs2144575699
|
|
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)
|
rs72648330
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1300G>A (p.Gly434Ser)
|
rs1555573969
|
|
NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter)
|
rs1228746935
|
|
NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter)
|
rs762428889
|
|
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter)
|
rs72648343
|
|
NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg)
|
rs72648344
|
|
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser)
|
rs1328384458
|
|
NM_000088.4(COL1A1):c.1465G>T (p.Gly489Ter)
|
rs138570309
|
|
NM_000088.4(COL1A1):c.148C>T (p.Arg50Ter)
|
rs1555575425
|
|
NM_000088.4(COL1A1):c.1516-1G>C
|
rs72648352
|
|
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser)
|
rs67682641
|
|
NM_000088.4(COL1A1):c.1615G>A (p.Gly539Ser)
|
rs1555573699
|
|
NM_000088.4(COL1A1):c.1618del (p.Gly539_Leu540insTer)
|
rs1555573696
|
|
NM_000088.4(COL1A1):c.162del (p.Lys54fs)
|
rs1131691607
|
|
NM_000088.4(COL1A1):c.1670G>A (p.Gly557Asp)
|
|
|
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1696G>A (p.Gly566Arg)
|
rs67416837
|
|
NM_000088.4(COL1A1):c.1768-1G>A
|
rs72648370
|
|
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)
|
rs72651614
|
|
NM_000088.4(COL1A1):c.1804G>A (p.Gly602Arg)
|
rs72651615
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.1875+5G>C
|
rs886041866
|
|
NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg)
|
rs2144563717
|
|
NM_000088.4(COL1A1):c.1930G>A (p.Gly644Ser)
|
rs1057524547
|
|
NM_000088.4(COL1A1):c.197_199delinsTGTTGCC (p.Gly66fs)
|
rs886041871
|
|
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
|
rs193922144
|
|
NM_000088.4(COL1A1):c.2073del (p.Gly692fs)
|
rs72651640
|
|
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)
|
rs68114505
|
|
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)
|
rs67368147
|
|
NM_000088.4(COL1A1):c.2119G>A (p.Gly707Ser)
|
rs886041817
|
|
NM_000088.4(COL1A1):c.2120G>A (p.Gly707Asp)
|
rs1420427521
|
|
NM_000088.4(COL1A1):c.2138G>A (p.Gly713Asp)
|
rs1555573040
|
|
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)
|
rs72651645
|
|
NM_000088.4(COL1A1):c.2235_2235+1del
|
rs2144558158
|
|
NM_000088.4(COL1A1):c.2317G>T (p.Gly773Cys)
|
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
NM_000088.4(COL1A1):c.2408G>T (p.Gly803Val)
|
rs1555572756
|
|
NM_000088.4(COL1A1):c.2425G>A (p.Gly809Ser)
|
rs72651663
|
|
NM_000088.4(COL1A1):c.2445_2446delinsA (p.Pro817fs)
|
rs2144554392
|
|
NM_000088.4(COL1A1):c.2452-1G>A
|
rs72651667
|
|
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)
|
rs67693970
|
|
NM_000088.4(COL1A1):c.2484_2510dup (p.Glu828_Gly836dup)
|
rs1555572656
|
|
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg)
|
rs72653136
|
|
NM_000088.4(COL1A1):c.2550del (p.Gly851fs)
|
rs1114167380
|
|
NM_000088.4(COL1A1):c.2559+1G>A
|
|
|
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)
|
rs67445413
|
|
NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys)
|
rs72653143
|
|
NM_000088.4(COL1A1):c.2615G>T (p.Gly872Val)
|
rs1555572537
|
|
NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter)
|
rs1555575370
|
|
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)
|
rs72653147
|
|
NM_000088.4(COL1A1):c.2715del (p.Gly906fs)
|
rs2144550479
|
|
NM_000088.4(COL1A1):c.2756del (p.Pro919fs)
|
rs2144550253
|
|
NM_000088.4(COL1A1):c.2784del (p.Gly929fs)
|
rs72653155
|
|
NM_000088.4(COL1A1):c.2786dup (p.Ala931fs)
|
rs1598289247
|
|
NM_000088.4(COL1A1):c.2810del (p.Pro937fs)
|
rs2144549885
|
|
NM_000088.4(COL1A1):c.2848G>A (p.Gly950Arg)
|
|
|
NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val)
|
rs72653166
|
|
NM_000088.4(COL1A1):c.2991del (p.Gly998fs)
|
rs886042603
|
|
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs)
|
rs72653168
|
|
NM_000088.4(COL1A1):c.3045+1G>A
|
rs1114167382
|
|
NM_000088.4(COL1A1):c.3046G>A (p.Gly1016Arg)
|
rs1555572331
|
|
NM_000088.4(COL1A1):c.3056G>C (p.Gly1019Ala)
|
rs1135348
|
|
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val)
|
rs67771061
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
NM_000088.4(COL1A1):c.3082G>A (p.Gly1028Ser)
|
|
|
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)
|
rs72653178
|
|
NM_000088.4(COL1A1):c.3123del (p.Ala1042fs)
|
rs886039693
|
|
NM_000088.4(COL1A1):c.3135del (p.Gly1046fs)
|
rs1598288002
|
|
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.3157_3170del (p.Ala1053fs)
|
rs1555572249
|
|
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs)
|
rs72654794
|
|
NM_000088.4(COL1A1):c.3207+1G>A
|
rs1555572239
|
|
NM_000088.4(COL1A1):c.3207+1_3207+2del
|
rs1064796200
|
|
NM_000088.4(COL1A1):c.3208G>A (p.Gly1070Ser)
|
rs1057518221
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.3261+1G>A
|
rs2144543339
|
|
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter)
|
rs2144542850
|
|
NM_000088.4(COL1A1):c.3301G>T (p.Glu1101Ter)
|
rs867628651
|
|
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)
|
rs1260429820
|
|
NM_000088.4(COL1A1):c.3379G>T (p.Gly1127Cys)
|
rs1555572024
|
|
NM_000088.4(COL1A1):c.3406G>A (p.Gly1136Ser)
|
rs1555572015
|
|
NM_000088.4(COL1A1):c.3415G>A (p.Gly1139Ser)
|
rs886041904
|
|
NM_000088.4(COL1A1):c.3416G>A (p.Gly1139Asp)
|
rs1064796499
|
|
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val)
|
rs72656321
|
|
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp)
|
rs886039726
|
|
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)
|
rs1555571916
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)
|
rs762979302
|
|
NM_000088.4(COL1A1):c.358del (p.Arg120fs)
|
rs2144591969
|
|
NM_000088.4(COL1A1):c.3652G>C (p.Ala1218Pro)
|
rs72656337
|
|
NM_000088.4(COL1A1):c.3814+1G>T
|
|
|
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter)
|
rs72656343
|
|
NM_000088.4(COL1A1):c.3G>A (p.Met1Ile)
|
rs1567766329
|
|
NM_000088.4(COL1A1):c.4035del (p.Ala1346fs)
|
rs1064796415
|
|
NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)
|
|
|
NM_000088.4(COL1A1):c.4110C>A (p.Cys1370Ter)
|
rs886041552
|
|
NM_000088.4(COL1A1):c.458dup (p.Gly154fs)
|
rs1114167407
|
|
NM_000088.4(COL1A1):c.472-1G>T
|
rs72667020
|
|
NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter)
|
rs946705319
|
|
NM_000088.4(COL1A1):c.578dup (p.Gly194fs)
|
rs1598300304
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000088.4(COL1A1):c.581G>A (p.Gly194Asp)
|
rs2144587699
|
|
NM_000088.4(COL1A1):c.595C>T (p.Gln199Ter)
|
rs2144587073
|
|
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)
|
rs72667036
|
|
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)
|
rs1555574641
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.967G>T (p.Gly323Ter)
|
|
|
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)
|
rs1555574303
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|