ClinVar Miner

List of variants in gene COL3A1 studied for Ehlers-Danlos syndrome, type 4

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Total variants: 763
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HGVS dbSNP
COL3A1, GLY373ARG
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NG_007404.1:g.31358_38084del
NG_007404.1:g.32133_36640del
NM_000090.3(COL3A1):c.*113C>T rs886055336
NM_000090.3(COL3A1):c.*317C>A rs886055337
NM_000090.3(COL3A1):c.*325C>A rs886055338
NM_000090.3(COL3A1):c.*34T>G rs191843385
NM_000090.3(COL3A1):c.*354C>T rs41265555
NM_000090.3(COL3A1):c.*370A>G rs886055339
NM_000090.3(COL3A1):c.*371G>T rs886055340
NM_000090.3(COL3A1):c.*406A>G rs770571552
NM_000090.3(COL3A1):c.*43A>G rs8224
NM_000090.3(COL3A1):c.*467T>A rs886055341
NM_000090.3(COL3A1):c.*592T>A rs115345151
NM_000090.3(COL3A1):c.*622T>C rs572369155
NM_000090.3(COL3A1):c.*625C>T rs886055342
NM_000090.3(COL3A1):c.*674G>A rs190903102
NM_000090.3(COL3A1):c.*692G>A rs886055343
NM_000090.3(COL3A1):c.*799_*800delAG rs13306265
NM_000090.3(COL3A1):c.*818T>C rs886055344
NM_000090.3(COL3A1):c.*88C>T rs11162
NM_000090.3(COL3A1):c.*89G>A rs886055335
NM_000090.3(COL3A1):c.*923A>T rs146222772
NM_000090.3(COL3A1):c.*947C>T rs886055345
NM_000090.3(COL3A1):c.-101G>A rs41265577
NM_000090.3(COL3A1):c.-80G>A rs41265575
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg) rs587779419
NM_000090.3(COL3A1):c.1050+6C>T rs528634384
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1069_1070insACCCTGCAG (p.Gly357_Ser358insAspProAla) rs587779579
NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser) rs587779499
NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.3(COL3A1):c.1100_1117del (p.Gln367_Gly372del) rs587779525
NM_000090.3(COL3A1):c.1103_1105GAG[1] (p.Gly369del) rs587779686
NM_000090.3(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val) rs587779547
NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu) rs587779569
NM_000090.3(COL3A1):c.1128C>T (p.His376=) rs771015742
NM_000090.3(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633
NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp) rs587779544
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1149+1G>T (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1149+5G>A (p.Gly351_Pro383del) rs587779538
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1150-1G>C (p.Gly384_Met398del) rs587779520
NM_000090.3(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del) rs587779612
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.3(COL3A1):c.1189_1194+23del (p.Gly384_Met398del) rs587779430
NM_000090.3(COL3A1):c.1194+1G>A (p.Gly384_Met398del) rs587779459
NM_000090.3(COL3A1):c.1194+1G>C (p.Gly384_Met398del) rs587779459
NM_000090.3(COL3A1):c.1194+9T>C rs1244921213
NM_000090.3(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1201G>A (p.Ala401Thr)
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.3(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys) rs587779485
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg) rs587779637
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) rs587779586
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1294-1G>C rs1060500204
NM_000090.3(COL3A1):c.1294-3T>G (p.Gly432_Arg449del) rs587779496
NM_000090.3(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.3(COL3A1):c.1336C>T (p.Arg446Cys)
NM_000090.3(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs587779453
NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs587779721
NM_000090.3(COL3A1):c.1347+6T>C
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1348-4dupT rs758567906
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.3(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp) rs587779621
NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1410del (p.Gly471fs) rs587779665
NM_000090.3(COL3A1):c.1435C>T (p.Pro479Ser)
NM_000090.3(COL3A1):c.1456-10T>G (p.Arg485_Gly486insTyrPheGln) rs587779701
NM_000090.3(COL3A1):c.1456-13_1499del (p.Gly486_Lys503del) rs1553508025
NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.3(COL3A1):c.1475G>A (p.Gly492Glu) rs587779500
NM_000090.3(COL3A1):c.1475G>T (p.Gly492Val) rs587779500
NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) rs111683983
NM_000090.3(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.3(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912
NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg) rs587779523
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
NM_000090.3(COL3A1):c.1509+2T>C rs1553508039
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val) rs587779632
NM_000090.3(COL3A1):c.1525C>T (p.Arg509Cys) rs1485092842
NM_000090.3(COL3A1):c.1526G>A (p.Arg509His) rs568986390
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu) rs587779693
NM_000090.3(COL3A1):c.1584C>T (p.Gly528=) rs946270867
NM_000090.3(COL3A1):c.1585G>A (p.Val529Ile) rs140257722
NM_000090.3(COL3A1):c.1594G>A (p.Gly532Ser)
NM_000090.3(COL3A1):c.1609-17T>G rs1468376126
NM_000090.3(COL3A1):c.1610delG (p.Gly537Alafs*254) rs587779702
NM_000090.3(COL3A1):c.1617C>A (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335
NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.3(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.3(COL3A1):c.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+1G>C (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+1G>T (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+2dupT (p.Gly537_Pro554del) rs587779537
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter)
NM_000090.3(COL3A1):c.1694C>A (p.Pro565His) rs144260440
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1701G>A (p.Gly567=) rs765802289
NM_000090.3(COL3A1):c.1701_2391+367del (p.Gly555_Pro797del)
NM_000090.3(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.3(COL3A1):c.1716A>C (p.Arg572=) rs751916055
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1744G>C (p.Gly582Arg) rs121912923
NM_000090.3(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.3(COL3A1):c.1761+15_1870-100del (p.Gly588_Thr623del)
NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del) rs587779530
NM_000090.3(COL3A1):c.1761+2T>G (p.Gly555_Asp587del) rs587779530
NM_000090.3(COL3A1):c.1761+4_1761+5del rs1559057346
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1761+5G>T rs397509372
NM_000090.3(COL3A1):c.1761+6T>C
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del) rs587779722
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer) rs587779510
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1773dupT (p.Lys592Terfs) rs587779608
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1804C>G (p.Pro602Ala)
NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.3(COL3A1):c.1808G>T (p.Gly603Val) rs587779477
NM_000090.3(COL3A1):c.1808del (p.Gly603fs) rs587779594
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1816-19T>C rs114299724
NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg) rs587779613
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1831_1832del (p.Asn611fs) rs587779462
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1861G>C (p.Gly621Arg) rs587779616
NM_000090.3(COL3A1):c.1861G>T (p.Gly621Trp) rs587779616
NM_000090.3(COL3A1):c.1862G>A (p.Gly621Glu) rs587779539
NM_000090.3(COL3A1):c.1862G>T (p.Gly621Val) rs587779539
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) rs587779600
NM_000090.3(COL3A1):c.1869+3A>C
NM_000090.3(COL3A1):c.1869+5G>A rs397509376
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) rs397509376
NM_000090.3(COL3A1):c.186C>T (p.Cys62=) rs764749176
NM_000090.3(COL3A1):c.1870-2A>G (p.Gly624_Gln641del) rs587779575
NM_000090.3(COL3A1):c.1870-2A>T (p.Gly624_Gln641del) rs587779575
NM_000090.3(COL3A1):c.1870-9C>T rs777339506
NM_000090.3(COL3A1):c.1885A>G (p.Lys629Glu)
NM_000090.3(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile)
NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu) rs587779611
NM_000090.3(COL3A1):c.1906G>C (p.Gly636Arg) rs587779522
NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.3(COL3A1):c.1915G>C (p.Gly639Arg) rs587779435
NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu) rs587779421
NM_000090.3(COL3A1):c.1923+1G>A (p.Gly624_Gln641del) rs587779573
NM_000090.3(COL3A1):c.1923+1G>C (p.Gly624_Gln641del) rs587779573
NM_000090.3(COL3A1):c.1923+2_1923+5del (p.Gly624_Gln641del) rs786200946
NM_000090.3(COL3A1):c.1924-4C>T rs755814664
NM_000090.3(COL3A1):c.1925G>T (p.Gly642Val) rs587779661
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu) rs587779699
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1974_1977+4del rs587779475
NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del) rs587779603
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.1978-6_1981del (p.Gly660_Lys662del) rs587779700
NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp) rs587779493
NM_000090.3(COL3A1):c.1980T>C (p.Gly660=) rs1553508597
NM_000090.3(COL3A1):c.1987G>C (p.Gly663Arg) rs587779433
NM_000090.3(COL3A1):c.1988G>A (p.Gly663Asp) rs587779454
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.1996G>A (p.Gly666Ser)
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
NM_000090.3(COL3A1):c.2022G>A (p.Lys674=) rs587779643
NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn) rs587779643
NM_000090.3(COL3A1):c.2023-1G>A (p.Gly675Valfs*116) rs587779708
NM_000090.3(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.2048G>A (p.Arg683His) rs753162027
NM_000090.3(COL3A1):c.204C>T (p.Asp68=) rs368299739
NM_000090.3(COL3A1):c.2051G>A (p.Gly684Glu)
NM_000090.3(COL3A1):c.2051G>T (p.Gly684Val) rs587779587
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg) rs587779577
NM_000090.3(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.3(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg) rs587779474
NM_000090.3(COL3A1):c.2069G>T (p.Gly690Val) rs587779458
NM_000090.3(COL3A1):c.2074C>A (p.Pro692Thr) rs1160258883
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp) rs587779591
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.2095G>C (p.Gly699Arg) rs587779668
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp) rs587779512
NM_000090.3(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
NM_000090.3(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.3(COL3A1):c.2109C>T (p.Pro703=) rs746947080
NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362
NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg) rs587779623
NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu) rs587779460
NM_000090.3(COL3A1):c.2121+1G>C (p.Gly675_Lys707del) rs587779675
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.3(COL3A1):c.2134_2160del (p.Pro712_Gly720del) rs587779560
NM_000090.3(COL3A1):c.2135C>T (p.Pro712Leu) rs780028064
NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu) rs587779678
NM_000090.3(COL3A1):c.2142_2168del (p.Pro715_Gly723del) rs587779657
NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp) rs587779549
NM_000090.3(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
NM_000090.3(COL3A1):c.2159G>A (p.Gly720Asp)
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu) rs587779698
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg) rs587779543
NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu) rs587779680
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2199T>C (p.Gly733=) rs762547633
NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg) rs587779484
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2212G>T (p.Gly738Cys) rs121912925
NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val) rs587779615
NM_000090.3(COL3A1):c.2220G>A (p.Lys740=) rs541557925
NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474
NM_000090.3(COL3A1):c.2229+1G>A
NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val) rs587779697
NM_000090.3(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.3(COL3A1):c.2241C>T (p.Gly747=) rs745440847
NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.3(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711
NM_000090.3(COL3A1):c.2267G>A
NM_000090.3(COL3A1):c.226A>G (p.Asn76Asp) rs142045411
NM_000090.3(COL3A1):c.2274T>C (p.Asp758=) rs1060503872
NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp) rs587779418
NM_000090.3(COL3A1):c.2283+1G>A rs1559058970
NM_000090.3(COL3A1):c.2284-109_3489del (p.Gly762_Glu1175del)
NM_000090.3(COL3A1):c.2284-2A>G (p.Gly762_Lys779del) rs587779558
NM_000090.3(COL3A1):c.2284G>C (p.Gly762Arg) rs587779694
NM_000090.3(COL3A1):c.2285G>A (p.Gly762Asp) rs587779541
NM_000090.3(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser) rs587779630
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.3(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del) rs587779663
NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del) rs587779513
NM_000090.3(COL3A1):c.2337+7C>A rs1060503874
NM_000090.3(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.3(COL3A1):c.2351C>A (p.Ala784Asp)
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val) rs587779564
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.3(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp) rs587779689
NM_000090.3(COL3A1):c.242T>C (p.Phe81Ser)
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.3(COL3A1):c.2445+2dupT (p.Gly798_Pro815del) rs587779572
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del) rs587779636
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2446-10T>C rs1060500195
NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp) rs587779486
NM_000090.3(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849
NM_000090.3(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp) rs587779642
NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp) rs587779526
NM_000090.3(COL3A1):c.2522T>C (p.Val841Ala)
NM_000090.3(COL3A1):c.2534dup (p.Gly846fs) rs587779653
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2553+1G>C (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2553+1delG (p.Gly816_Ala851del) rs587779514
NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del) rs587779684
NM_000090.3(COL3A1):c.2553+3A>T (p.Gly816_Ala851del) rs587779713
NM_000090.3(COL3A1):c.2553+5G>T rs397509371
NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384) rs587779519
NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys) rs587779690
NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp) rs587779494
NM_000090.3(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro854_Gly855insLeuGlyValLysGlyGluArgGlySer) rs1135402747
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp) rs587779466
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val) rs587779717
NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp) rs587779417
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del) rs587779457
NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del) rs587779457
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
NM_000090.3(COL3A1):c.2636G>T (p.Gly879Val) rs587779645
NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp) rs587779622
NM_000090.3(COL3A1):c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2) rs587779590
NM_000090.3(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859
NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) rs139610730
NM_000090.3(COL3A1):c.2675C>T (p.Pro892Leu) rs1447793042
NM_000090.3(COL3A1):c.2681G>C (p.Gly894Ala) rs587779589
NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp) rs587779599
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu) rs587779505
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
NM_000090.3(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2724G>A (p.Ala908=) rs754015151
NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val) rs587779483
NM_000090.3(COL3A1):c.272C>T (p.Pro91Leu) rs534898281
NM_000090.3(COL3A1):c.2733T>C (p.Thr911=) rs138961881
NM_000090.3(COL3A1):c.2735G>A (p.Gly912Asp) rs587779716
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu) rs587779662
NM_000090.3(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser) rs587779471
NM_000090.3(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.3(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.3(COL3A1):c.2771G>T (p.Gly924Val) rs587779450
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp) rs587779432
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg) rs587779566
NM_000090.3(COL3A1):c.2815G>A (p.Gly939Ser) rs587779550
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.3(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28) rs587779424
NM_000090.3(COL3A1):c.2824-1G>A (p.Gly942Glufs*294) rs587779617
NM_000090.3(COL3A1):c.2824-9C>T rs1553509204
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu) rs587779517
NM_000090.3(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.3(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg) rs587779447
NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) rs878853651
NM_000090.3(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025
NM_000090.3(COL3A1):c.284C>T (p.Pro95Leu) rs780260944
NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu) rs587779434
NM_000090.3(COL3A1):c.2869G>T (p.Gly957Cys) rs121912913
NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp) rs587779654
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.3(COL3A1):c.2887G>T (p.Gly963Cys) rs587779640
NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp) rs587779511
NM_000090.3(COL3A1):c.2897G>T (p.Gly966Val) rs587779571
NM_000090.3(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg) rs587779580
NM_000090.3(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.3(COL3A1):c.2913T>G (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp) rs587779559
NM_000090.3(COL3A1):c.2915G>C (p.Gly972Ala) rs587779559
NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val) rs587779542
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del) rs397509373
NM_000090.3(COL3A1):c.2931+8T>C rs949146538
NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp) rs587779595
NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter) rs587779488
NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg) rs587779449
NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg) rs587779449
NM_000090.3(COL3A1):c.2950_2951delinsAC (p.Gly984Thr) rs1559061242
NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.3(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.3(COL3A1):c.2977G>T (p.Gly993Cys) rs587779416
NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp) rs587779456
NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu) rs587779576
NM_000090.3(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser) rs587779548
NM_000090.3(COL3A1):c.2995G>C (p.Gly999Arg) rs587779548
NM_000090.3(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788
NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp) rs587779659
NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.3(COL3A1):c.3039+154_3525+223del
NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ) rs587779506
NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ) rs587779568
NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ) rs587779532
NM_000090.3(COL3A1):c.3040-127_3255+107del
NM_000090.3(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3062_3064del (p.Leu1021del) rs587779529
NM_000090.3(COL3A1):c.3066A>G (p.Pro1022=) rs756680770
NM_000090.3(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.3(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480
NM_000090.3(COL3A1):c.3093+1G>A rs869312034
NM_000090.3(COL3A1):c.3093+2T>C (p.Gly1014_Lys1031del) rs587779503
NM_000090.3(COL3A1):c.3093+2T>G (p.Gly1014_Lys1031del) rs587779503
NM_000090.3(COL3A1):c.3094-10_3094delinsGT rs1559061674
NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val) rs587779428
NM_000090.3(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206
NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter) rs587779677
NM_000090.3(COL3A1):c.3100C>T (p.Arg1034Cys) rs1178112512
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val) rs587779582
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val) rs587779491
NM_000090.3(COL3A1):c.3132C>T (p.Gly1044=) rs369992399
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp) rs587779545
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg) rs587779651
NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3170C>G (p.Pro1057Arg)
NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val) rs587779619
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3201+10C>G rs372405344
NM_000090.3(COL3A1):c.3202-14delT rs767971610
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val) rs587779551
NM_000090.3(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser) rs587779554
NM_000090.3(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.3(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) rs587779509
NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp) rs587779469
NM_000090.3(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del) rs587779480
NM_000090.3(COL3A1):c.3255+1G>C
NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del) rs587779501
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp) rs587779672
NM_000090.3(COL3A1):c.3266G>T (p.Gly1089Val)
NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val) rs587779666
NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp) rs587779610
NM_000090.3(COL3A1):c.3293G>T (p.Gly1098Val) rs587779614
NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg) rs587779439
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.3(COL3A1):c.3312C>T (p.Gly1104=) rs752919642
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062
NM_000090.3(COL3A1):c.333+15T>C rs764678861
NM_000090.3(COL3A1):c.3336T>C (p.Pro1112=) rs749357239
NM_000090.3(COL3A1):c.3345A>G (p.Pro1115=) rs1045040851
NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val) rs587779445
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3364-2A>C (p.Gly1122_Arg1139del) rs587779546
NM_000090.3(COL3A1):c.3364-8C>T rs779073034
NM_000090.3(COL3A1):c.3375T>C (p.Gly1125=) rs1355734194
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp) rs587779720
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+1G>C (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+1G>T (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+4_3417+5del rs1553509630
NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+) rs587779448
NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY) rs587779562
NM_000090.3(COL3A1):c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW) rs587779502
NM_000090.3(COL3A1):c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL) rs587779502
NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu) rs587779648
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)
NM_000090.3(COL3A1):c.3466C>T (p.His1156Tyr)
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp) rs587779472
NM_000090.3(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup)
NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.3(COL3A1):c.3482G>T (p.Gly1161Val) rs587779473
NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.3490G>C (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.3490G>T (p.Gly1164Trp) rs587779553
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.3491G>T (p.Gly1164Val) rs587779431
NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.3(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.3(COL3A1):c.349C>A (p.Pro117Thr)
NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.3(COL3A1):c.3500G>T (p.Gly1167Val) rs587779578
NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.3(COL3A1):c.3509G>A (p.Gly1170Asp) rs587779465
NM_000090.3(COL3A1):c.3509G>T (p.Gly1170Val) rs587779465
NM_000090.3(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg) rs587779521
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3518G>T (p.Gly1173Val) rs121912918
NM_000090.3(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.3(COL3A1):c.3527_3528delGCinsAA (p.Gly1176Glu) rs587779669
NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg) rs587779574
NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.3(COL3A1):c.3544G>A (p.Gly1182Arg) rs587779683
NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu) rs111505097
NM_000090.3(COL3A1):c.3545G>T (p.Gly1182Val) rs111505097
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.3554G>T (p.Gly1185Val) rs121912917
NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg) rs587779504
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.3(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.3(COL3A1):c.3574G>A (p.Ala1192Thr)
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) rs587779712
NM_000090.3(COL3A1):c.3576C>T (p.Ala1192=) rs574331101
NM_000090.3(COL3A1):c.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.3(COL3A1):c.3593G>A (p.Gly1198Asp)
NM_000090.3(COL3A1):c.3604G>T (p.Ala1202Ser) rs1270244946
NM_000090.3(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3629G>A (p.Gly1210Asp) rs749543804
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3774C>T (p.Pro1258=) rs149790711
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3796A>C (p.Lys1266Gln)
NM_000090.3(COL3A1):c.3808C>A (p.Pro1270Thr)
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3823+1G>T
NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter) rs587779467
NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val) rs587779658
NM_000090.3(COL3A1):c.3914C>G (p.Ala1305Gly) rs1060500197
NM_000090.3(COL3A1):c.3926A>G (p.Asn1309Ser) rs1060500201
NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.3(COL3A1):c.3966del (p.Lys1323fs) rs587779490
NM_000090.3(COL3A1):c.3989del (p.Glu1330fs) rs587779647
NM_000090.3(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4011+1G>T
NM_000090.3(COL3A1):c.4012-2A>G rs1559063681
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) rs113753099
NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) rs1516446
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.3(COL3A1):c.4075C>A (p.Leu1359Ile) rs1400489265
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.409C>A (p.Pro137Thr) rs1553506950
NM_000090.3(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.3(COL3A1):c.413del (p.Pro138fs) rs587779707
NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.3(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.3(COL3A1):c.4257A>G (p.Lys1419=)
NM_000090.3(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.3(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) rs587779719
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.3(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340
NM_000090.3(COL3A1):c.4301G>A (p.Arg1434His)
NM_000090.3(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.3(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.3(COL3A1):c.432C>T (p.Cys144=) rs539430522
NM_000090.3(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.3(COL3A1):c.4338C>T (p.Pro1446=) rs376207711
NM_000090.3(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090
NM_000090.3(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353
NM_000090.3(COL3A1):c.435T>A (p.Pro145=) rs1060503875
NM_000090.3(COL3A1):c.4360C>T (p.Gln1454Ter)
NM_000090.3(COL3A1):c.4382G>T (p.Gly1461Val)
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) rs587779618
NM_000090.3(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510
NM_000090.3(COL3A1):c.469T>A (p.Ser157Thr)
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.529-5T>G rs886055329
NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp) rs587779714
NM_000090.3(COL3A1):c.546C>A (p.Pro182=)
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.547G>C (p.Gly183Arg) rs121912926
NM_000090.3(COL3A1):c.547G>T (p.Gly183Cys) rs121912926
NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp) rs587779420
NM_000090.3(COL3A1):c.548G>C (p.Gly183Ala) rs587779420
NM_000090.3(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.3(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser) rs587779446
NM_000090.3(COL3A1):c.55A>G (p.Thr19Ala)
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg) rs587779507
NM_000090.3(COL3A1):c.575G>T (p.Gly192Val) rs587779710
NM_000090.3(COL3A1):c.582+10G>A rs1553507200
NM_000090.3(COL3A1):c.582+1G>C (p.Gly177_Pro194del) rs587779508
NM_000090.3(COL3A1):c.582+2dupT (p.Gly177_Pro194del) rs587779524
NM_000090.3(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+5G>T (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+5_582+11delinsACA rs1559053784
NM_000090.3(COL3A1):c.582+6T>A (p.Gly177_Pro194del) rs397509375
NM_000090.3(COL3A1):c.582+6T>C rs397509375
NM_000090.3(COL3A1):c.583-7T>C rs886055330
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.583G>C (p.Gly195Arg) rs267599120
NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg) rs587779601
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg) rs587779436
NM_000090.3(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser) rs587779711
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.3(COL3A1):c.615_629dup (p.Gly207_Pro211dup) rs587779628
NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.3(COL3A1):c.620G>T (p.Gly207Val) rs587779592
NM_000090.3(COL3A1):c.621G>A (p.Gly207=) rs779352711
NM_000090.3(COL3A1):c.624A>G (p.Gln208=)
NM_000090.3(COL3A1):c.629G>T (p.Gly210Val) rs587779515
NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del) rs587779681
NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del) rs587779676
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser) rs587779557
NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys) rs587779624
NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp) rs587779441
NM_000090.3(COL3A1):c.656G>C (p.Gly219Ala) rs587779441
NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp) rs587779518
NM_000090.3(COL3A1):c.665G>T (p.Gly222Val) rs587779518
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.674G>T (p.Gly225Val) rs587779533
NM_000090.3(COL3A1):c.682G>C (p.Gly228Arg) rs587779470
NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu) rs587779555
NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del) rs587779660
NM_000090.3(COL3A1):c.690+2T>A (p.Gly213_Asp230del) rs587779497
NM_000090.3(COL3A1):c.690+2T>G (p.Gly213_Asp230del) rs587779497
NM_000090.3(COL3A1):c.691-2A>G
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp) rs587779656
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.718G>C (p.Gly240Arg) rs587779468
NM_000090.3(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.3(COL3A1):c.728G>A (p.Gly243Glu) rs587779629
NM_000090.3(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu) rs587779570
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.3(COL3A1):c.746G>T (p.Gly249Val) rs121912927
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.754G>C (p.Gly252Arg) rs587779705
NM_000090.3(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp) rs587779464
NM_000090.3(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu) rs587779605
NM_000090.3(COL3A1):c.764G>T (p.Gly255Val) rs587779605
NM_000090.3(COL3A1):c.766del (p.Ile256fs) rs587779455
NM_000090.3(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10) rs587779463
NM_000090.3(COL3A1):c.799-6delT rs767927599
NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser) rs587779718
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.80-1G>C rs1559052551
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser)
NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp) rs587779644
NM_000090.3(COL3A1):c.827G>T (p.Gly276Val)
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.3(COL3A1):c.838G>A (p.Ala280Thr)
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg) rs587779531
NM_000090.3(COL3A1):c.845G>T (p.Gly282Val)
NM_000090.3(COL3A1):c.852+2T>C
NM_000090.3(COL3A1):c.873C>A (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.898-1G>C (p.Gly300_Ala317del) rs587779556
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.3(COL3A1):c.899G>A (p.Gly300Asp) rs587779440
NM_000090.3(COL3A1):c.899G>T (p.Gly300Val) rs587779440
NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg) rs121912919
NM_000090.3(COL3A1):c.91G>C (p.Gly31Arg) rs374537884
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs)
NM_000090.3(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) rs587779487
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del) rs587779652
NM_000090.3(COL3A1):c.951+2T>A (p.Gly300_Ala317del) rs587779426
NM_000090.3(COL3A1):c.951+2T>C (p.Gly300_Ala317del) rs587779426
NM_000090.3(COL3A1):c.951+3G>T (p.Gly300_Ala317del) rs587779452
NM_000090.3(COL3A1):c.951+4A>T (p.Gly300_Ala317del) rs587779598
NM_000090.3(COL3A1):c.951+4_951+5del rs1559055162
NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del) rs587779422
NM_000090.3(COL3A1):c.951+6T>A (p.Gly300_Ala317del) rs587779423
NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del) rs587779423
NM_000090.3(COL3A1):c.951_951+14del (p.Gly300_Ala317del) rs587779425
NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.3(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) rs587779655
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.962G>T (p.Gly321Val) rs587779588
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.3(COL3A1):c.996+10T>A rs369957068
NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del) rs587779516
NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del) rs587779649
NM_000090.3(COL3A1):c.997-10A>G (p.Pro332_Gly333insFFQ) rs587779670
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) rs587779687
NM_000090.3(COL3A1):c.997-2A>G (p.Gly333_Lys350del+) rs587779602
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
NM_000090.3(COL3A1):c.[=/3426_3452del27];[=/3440_3466del27]

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