NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_000088.4(COL1A1):c.299-20C>G
|
rs2256835
|
0.54824
|
NM_000088.4(COL1A1):c.4249-12G>A
|
rs2249492
|
0.52233
|
NM_000088.4(COL1A1):c.2560-18C>G
|
rs2075559
|
0.50861
|
NM_000088.4(COL1A1):c.1930-14T>C
|
rs2696247
|
0.13425
|
NM_000088.4(COL1A1):c.642+18A>C
|
rs16948767
|
0.12150
|
NM_000088.4(COL1A1):c.177G>T (p.Arg59=)
|
rs1057297
|
0.04003
|
NM_000088.4(COL1A1):c.2343+34C>A
|
rs149027707
|
0.00591
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000088.4(COL1A1):c.999C>T (p.Pro333=)
|
rs62637627
|
0.00222
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)
|
rs148659814
|
0.00085
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=)
|
rs113437353
|
0.00061
|
NM_000088.4(COL1A1):c.1461+7G>A
|
rs374268357
|
0.00054
|
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=)
|
rs142312753
|
0.00054
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
NM_000088.4(COL1A1):c.1984-7C>G
|
rs376886366
|
0.00043
|
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser)
|
rs145446512
|
0.00041
|
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)
|
rs764381074
|
0.00038
|
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)
|
rs41317351
|
0.00038
|
NM_000088.4(COL1A1):c.2668-12A>G
|
rs200355573
|
0.00037
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
NM_000088.4(COL1A1):c.1206T>G (p.Ala402=)
|
rs141411256
|
0.00014
|
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=)
|
rs757237837
|
0.00014
|
NM_000088.4(COL1A1):c.391C>A (p.Arg131=)
|
rs776611767
|
0.00010
|
NM_000088.4(COL1A1):c.3124G>A (p.Ala1042Thr)
|
rs746939680
|
0.00008
|
NM_000088.4(COL1A1):c.1515+17G>A
|
rs778395663
|
0.00006
|
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)
|
rs200188855
|
0.00006
|
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)
|
rs150803124
|
0.00006
|
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)
|
rs774001209
|
0.00006
|
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=)
|
rs200145743
|
0.00006
|
NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=)
|
rs369138260
|
0.00006
|
NM_000088.4(COL1A1):c.1200+5G>A
|
rs374322003
|
0.00005
|
NM_000088.4(COL1A1):c.1236T>C (p.Pro412=)
|
rs560859897
|
0.00005
|
NM_000088.4(COL1A1):c.690A>G (p.Gly230=)
|
rs776786081
|
0.00005
|
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=)
|
rs137937544
|
0.00004
|
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly)
|
rs746847841
|
0.00004
|
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)
|
rs768808806
|
0.00004
|
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg)
|
rs941273260
|
0.00004
|
NM_000088.4(COL1A1):c.45C>T (p.Ala15=)
|
rs140295356
|
0.00004
|
NM_000088.4(COL1A1):c.298+6G>T
|
rs753705753
|
0.00003
|
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=)
|
rs753536372
|
0.00003
|
NM_000088.4(COL1A1):c.3222C>T (p.Pro1074=)
|
rs764134427
|
0.00002
|
NM_000088.4(COL1A1):c.336A>T (p.Gly112=)
|
rs749946056
|
0.00002
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=)
|
rs745797859
|
0.00002
|
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu)
|
rs577626107
|
0.00002
|
NM_000088.4(COL1A1):c.1056+3G>A
|
rs367802613
|
0.00001
|
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp)
|
rs769791947
|
0.00001
|
NM_000088.4(COL1A1):c.2387G>A (p.Arg796His)
|
rs72651662
|
0.00001
|
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)
|
rs779337831
|
0.00001
|
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val)
|
rs1339193404
|
0.00001
|
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=)
|
rs913216741
|
0.00001
|
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=)
|
rs772906802
|
0.00001
|
NM_000088.4(COL1A1):c.334-4A>G
|
rs200621584
|
0.00001
|
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)
|
rs370529603
|
0.00001
|
NM_000088.4(COL1A1):c.3813T>A (p.Ser1271Arg)
|
rs1341583755
|
0.00001
|
NM_000088.4(COL1A1):c.4200C>T (p.Ala1400=)
|
rs764510425
|
0.00001
|
NM_000088.4(COL1A1):c.663T>C (p.Gly221=)
|
rs770083936
|
0.00001
|
NM_000088.4(COL1A1):c.*239_*244dup
|
|
|
NM_000088.4(COL1A1):c.*240_*244del
|
|
|
NM_000088.4(COL1A1):c.*241_*244dup
|
|
|
NM_000088.4(COL1A1):c.*242_*244del
|
|
|
NM_000088.4(COL1A1):c.*242_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*243_*244del
|
|
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*244del
|
|
|
NM_000088.4(COL1A1):c.*244dup
|
|
|
NM_000088.4(COL1A1):c.-7T>C
|
|
|
NM_000088.4(COL1A1):c.-8G>C
|
|
|
NM_000088.4(COL1A1):c.-9G>A
|
|
|
NM_000088.4(COL1A1):c.1002+5G>A
|
|
|
NM_000088.4(COL1A1):c.1003-30T>C
|
|
|
NM_000088.4(COL1A1):c.1011C>G (p.Thr337=)
|
|
|
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)
|
rs66494876
|
|
NM_000088.4(COL1A1):c.1155+6T>C
|
|
|
NM_000088.4(COL1A1):c.1300-4G>A
|
|
|
NM_000088.4(COL1A1):c.1354-1G>T
|
|
|
NM_000088.4(COL1A1):c.1462-3C>A
|
rs2144572314
|
|
NM_000088.4(COL1A1):c.1515+15C>T
|
rs758006385
|
|
NM_000088.4(COL1A1):c.1544del (p.Gly515fs)
|
|
|
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.1822-2del
|
|
|
NM_000088.4(COL1A1):c.1879C>T (p.Pro627Ser)
|
|
|
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=)
|
rs1301142840
|
|
NM_000088.4(COL1A1):c.1984-6C>T
|
rs373873548
|
|
NM_000088.4(COL1A1):c.2028+2T>A
|
|
|
NM_000088.4(COL1A1):c.2084del (p.Gly695fs)
|
rs72651641
|
|
NM_000088.4(COL1A1):c.2282G>A (p.Gly761Asp)
|
|
|
NM_000088.4(COL1A1):c.2345G>C (p.Gly782Ala)
|
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
NM_000088.4(COL1A1):c.2397+9A>C
|
|
|
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)
|
rs886042260
|
|
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala)
|
rs66929517
|
|
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)
|
|
|
NM_000088.4(COL1A1):c.2523del (p.Gly842fs)
|
rs72653133
|
|
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu)
|
rs72653142
|
|
NM_000088.4(COL1A1):c.2598C>G (p.Gly866=)
|
rs1388778878
|
|
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)
|
rs1567755602
|
|
NM_000088.4(COL1A1):c.2975G>A (p.Gly992Asp)
|
|
|
NM_000088.4(COL1A1):c.2990del (p.Pro997fs)
|
rs1598288648
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3046-20CT[9]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser)
|
rs66523073
|
|
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.3162del (p.Gly1055fs)
|
rs72654794
|
|
NM_000088.4(COL1A1):c.3207+1G>C
|
rs1555572239
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.3232G>A (p.Val1078Ile)
|
|
|
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)
|
rs72654802
|
|
NM_000088.4(COL1A1):c.3251G>T (p.Arg1084Leu)
|
|
|
NM_000088.4(COL1A1):c.3369+5G>C
|
rs1555572075
|
|
NM_000088.4(COL1A1):c.3509del (p.Arg1170fs)
|
|
|
NM_000088.4(COL1A1):c.3553_3555delinsACTCCTGGTCCC (p.Gly1184_Pro1185insThrProGly)
|
|
|
NM_000088.4(COL1A1):c.3665del (p.Asn1222fs)
|
|
|
NM_000088.4(COL1A1):c.370-6C>G
|
|
|
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg)
|
rs1555571769
|
|
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp)
|
rs34940368
|
|
NM_000088.4(COL1A1):c.4005+1del
|
|
|
NM_000088.4(COL1A1):c.4006-40G>A
|
|
|
NM_000088.4(COL1A1):c.4067G>T (p.Arg1356Leu)
|
rs149820303
|
|
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn)
|
rs72656349
|
|
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr)
|
rs72656351
|
|
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)
|
rs72667016
|
|
NM_000088.4(COL1A1):c.449C>T (p.Pro150Leu)
|
|
|
NM_000088.4(COL1A1):c.65_66delinsTT (p.Gly22Val)
|
|
|
NM_000088.4(COL1A1):c.66C>T (p.Gly22=)
|
|
|
NM_000088.4(COL1A1):c.937C>A (p.Pro313Thr)
|
|
|
NM_000088.4(COL1A1):c.957+4del
|
|
|
NM_000088.4(COL1A1):c.957+6T>C
|
|
|
NM_000088.4(COL1A1):c.958-27T>G
|
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|