NM_000088.4(COL1A1):c.3223= (p.Ala1075=)
|
rs1800215
|
0.97286
|
NM_000088.4(COL1A1):c.1669-31T>C
|
rs1007086
|
0.64557
|
NM_000088.4(COL1A1):c.104-441G>T
|
rs1800012
|
0.13897
|
NM_000088.4(COL1A1):c.696+54G>A
|
rs73987447
|
0.03766
|
NM_000088.4(COL1A1):c.298+7C>A
|
rs41317345
|
0.01333
|
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=)
|
rs35017779
|
0.01114
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00578
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
NM_000088.4(COL1A1):c.612C>T (p.Pro204=)
|
rs138078016
|
0.00480
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)
|
rs41316725
|
0.00431
|
NM_000088.4(COL1A1):c.2127+60T>C
|
rs112502723
|
0.00414
|
NM_000088.4(COL1A1):c.4005+44G>A
|
rs145008436
|
0.00381
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=)
|
rs144134990
|
0.00245
|
NM_000088.4(COL1A1):c.999C>T (p.Pro333=)
|
rs62637627
|
0.00222
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000088.4(COL1A1):c.2613+14G>A
|
rs41316685
|
0.00101
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)
|
rs148659814
|
0.00085
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)
|
rs138544681
|
0.00069
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala)
|
rs142570406
|
0.00059
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)
|
rs764381074
|
0.00038
|
NM_000088.4(COL1A1):c.588+16G>A
|
rs191715075
|
0.00032
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=)
|
rs41316673
|
0.00026
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)
|
rs149301001
|
0.00019
|
NM_000088.4(COL1A1):c.3100-6C>T
|
rs377123276
|
0.00019
|
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=)
|
rs151328660
|
0.00018
|
NM_000088.4(COL1A1):c.2236-9T>C
|
rs375248255
|
0.00018
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
NM_000088.4(COL1A1):c.588+15C>T
|
rs371817394
|
0.00009
|
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
|
rs369699409
|
0.00008
|
NM_000088.4(COL1A1):c.1983+16C>T
|
rs536312322
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
0.00006
|
NM_000088.4(COL1A1):c.2028+18G>A
|
rs745829877
|
0.00005
|
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)
|
rs772929903
|
0.00005
|
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=)
|
rs761635519
|
0.00004
|
NM_000088.4(COL1A1):c.1930-5T>C
|
rs762377921
|
0.00004
|
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=)
|
rs776229611
|
0.00002
|
NM_000088.4(COL1A1):c.1515+6C>T
|
rs369422507
|
0.00002
|
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala)
|
rs762809403
|
0.00001
|
NM_000088.4(COL1A1):c.1929+11A>G
|
rs1323161515
|
0.00001
|
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val)
|
rs1339193404
|
0.00001
|
NM_000088.4(COL1A1):c.2883C>T (p.Val961=)
|
rs761548060
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr)
|
rs374095521
|
0.00001
|
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)
|
rs72656314
|
0.00001
|
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=)
|
rs768896689
|
0.00001
|
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
|
|
|
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)
|
rs66494876
|
|
NM_000088.4(COL1A1):c.1102G>C (p.Gly368Arg)
|
rs72645367
|
|
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu)
|
rs1555574123
|
|
NM_000088.4(COL1A1):c.1238G>A (p.Gly413Asp)
|
rs72648325
|
|
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val)
|
rs1135401953
|
|
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala)
|
rs1907454557
|
|
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser)
|
rs72648339
|
|
NM_000088.4(COL1A1):c.1382G>C (p.Gly461Ala)
|
rs1598296202
|
|
NM_000088.4(COL1A1):c.1674C>A (p.Pro558=)
|
|
|
NM_000088.4(COL1A1):c.1696G>A (p.Gly566Arg)
|
rs67416837
|
|
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala)
|
rs1598295066
|
|
NM_000088.4(COL1A1):c.1720del (p.Arg574fs)
|
rs1555573621
|
|
NM_000088.4(COL1A1):c.1724G>A (p.Gly575Asp)
|
rs1567759163
|
|
NM_000088.4(COL1A1):c.1767+4A>G
|
rs2144569023
|
|
NM_000088.4(COL1A1):c.1945_1953del (p.Ala649_Pro651del)
|
rs2144563120
|
|
NM_000088.4(COL1A1):c.2021G>A (p.Gly674Glu)
|
rs1567757713
|
|
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del)
|
rs1598302040
|
|
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.2128-1G>C
|
rs67543897
|
|
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
|
|
|
NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg)
|
|
|
NM_000088.4(COL1A1):c.2489G>C (p.Gly830Ala)
|
rs1906940342
|
|
NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp)
|
rs886043749
|
|
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)
|
rs67445413
|
|
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu)
|
rs926503489
|
|
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)
|
rs1567755602
|
|
NM_000088.4(COL1A1):c.2705G>A (p.Gly902Asp)
|
|
|
NM_000088.4(COL1A1):c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914fs)
|
rs2144550352
|
|
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1])
|
rs1555572458
|
|
NM_000088.4(COL1A1):c.2829+1G>A
|
rs72653156
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3046-20CT[7]
|
rs138425306
|
|
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.3118G>A (p.Gly1040Ser)
|
rs72653178
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.3379G>C (p.Gly1127Arg)
|
rs1555572024
|
|
NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg)
|
rs1278821174
|
|
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp)
|
rs886039726
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.3533G>A (p.Gly1178Asp)
|
rs72656329
|
|
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)
|
rs72656330
|
|
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
|
|
|
NM_000088.4(COL1A1):c.3925C>T (p.Gln1309Ter)
|
rs2144534607
|
|
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
|
|
|
NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=)
|
|
|
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)
|
rs982770651
|
|
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
|
|
|
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr)
|
rs1555571536
|
|
NM_000088.4(COL1A1):c.472-13_472-12del
|
rs1210027118
|
|