ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 424
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422 0.00015
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His) rs144260440 0.00011
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr) rs142042452 0.00011
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974 0.00010
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His) rs138533702 0.00010
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769 0.00009
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser) rs769622439 0.00007
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile) rs140257722 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu) rs139610730 0.00006
NM_000090.4(COL3A1):c.3035G>A (p.Arg1012Lys) rs865829661 0.00006
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983 0.00006
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg) rs374537884 0.00006
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) rs770168441 0.00004
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849 0.00004
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu) rs534898281 0.00004
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862 0.00004
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062 0.00004
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln) rs778497667 0.00004
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=) rs373963384 0.00003
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln) rs774632188 0.00003
NM_000090.4(COL3A1):c.2022+6A>T rs368117488 0.00003
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser) rs372027308 0.00003
NM_000090.4(COL3A1):c.2305C>T (p.Pro769Ser) rs746504108 0.00003
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) rs778419091 0.00003
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val) rs754503346 0.00003
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln) rs1021622002 0.00002
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys) rs1485092842 0.00002
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530 0.00002
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile) rs769039976 0.00002
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala) rs777180110 0.00002
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) rs775562650 0.00002
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr) rs147054108 0.00002
NM_000090.4(COL3A1):c.3484C>T (p.Pro1162Ser) rs762147747 0.00002
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln) rs369494336 0.00002
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831 0.00002
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His) rs368119434 0.00002
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090 0.00002
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile) rs561556753 0.00002
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro) rs780921226 0.00002
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys) rs138818489 0.00002
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln) rs753589858 0.00002
NM_000090.4(COL3A1):c.-10A>G rs41272793 0.00001
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly) rs748323501 0.00001
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633 0.00001
NM_000090.4(COL3A1):c.1149+3A>G rs1466133249 0.00001
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys) rs187907868 0.00001
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr) rs763720540 0.00001
NM_000090.4(COL3A1):c.1201G>A (p.Ala401Thr) rs373858715 0.00001
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val) rs1372036761 0.00001
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) rs794728035 0.00001
NM_000090.4(COL3A1):c.1307A>G (p.Lys436Arg) rs751471411 0.00001
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser) rs1688260053 0.00001
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His) rs888082655 0.00001
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr) rs745315358 0.00001
NM_000090.4(COL3A1):c.13G>A (p.Val5Met) rs1461198652 0.00001
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser) rs748530632 0.00001
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro) rs374532173 0.00001
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr) rs200866608 0.00001
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912 0.00001
NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser) rs776430998 0.00001
NM_000090.4(COL3A1):c.1558G>A (p.Ala520Thr) rs1410374684 0.00001
NM_000090.4(COL3A1):c.1609-11C>A rs1474506962 0.00001
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335 0.00001
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser) rs752163277 0.00001
NM_000090.4(COL3A1):c.1685G>A (p.Arg562Gln) rs774146040 0.00001
NM_000090.4(COL3A1):c.1761+6T>C rs189483688 0.00001
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp) rs1435010100 0.00001
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile) rs762028131 0.00001
NM_000090.4(COL3A1):c.1801G>A (p.Gly601Arg) rs767889802 0.00001
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu) rs764299277 0.00001
NM_000090.4(COL3A1):c.1816-6T>G rs1474453319 0.00001
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774 0.00001
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) rs794728048 0.00001
NM_000090.4(COL3A1):c.194T>C (p.Ile65Thr) rs1050728178 0.00001
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410 0.00001
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu) rs756822808 0.00001
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met) rs372269408 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000090.4(COL3A1):c.2047C>T (p.Arg683Cys) rs1254414798 0.00001
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) rs753162027 0.00001
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn) rs112714742 0.00001
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=) rs541557925 0.00001
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr) rs1296092212 0.00001
NM_000090.4(COL3A1):c.2479A>G (p.Arg827Gly) rs1309388302 0.00001
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg) rs1363971558 0.00001
NM_000090.4(COL3A1):c.2530C>T (p.Pro844Ser) rs780490668 0.00001
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu) rs943287668 0.00001
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859 0.00001
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu) rs1455100373 0.00001
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser) rs761447734 0.00001
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu) rs780260944 0.00001
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser) rs1431359737 0.00001
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala) rs142457159 0.00001
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480 0.00001
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206 0.00001
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) rs780788248 0.00001
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile) rs747197616 0.00001
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser) rs180938313 0.00001
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516 0.00001
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val) rs952989325 0.00001
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu) rs1328301317 0.00001
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser) rs1464447467 0.00001
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg) rs1688622334 0.00001
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser) rs748793822 0.00001
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870 0.00001
NM_000090.4(COL3A1):c.3478A>T (p.Ile1160Phe) rs1688636735 0.00001
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062 0.00001
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp) rs756858564 0.00001
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser) rs767577382 0.00001
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val) rs779018915 0.00001
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met) rs200052168 0.00001
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr) rs756724842 0.00001
NM_000090.4(COL3A1):c.3821G>A (p.Ser1274Asn) rs1688666675 0.00001
NM_000090.4(COL3A1):c.3824-11T>G rs766096022 0.00001
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser) rs1483989815 0.00001
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524 0.00001
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys) rs149522780 0.00001
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser) rs751807135 0.00001
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser) rs752777683 0.00001
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr) rs547373542 0.00001
NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser) rs547373542 0.00001
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser) rs746580509 0.00001
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg) rs775951025 0.00001
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204 0.00001
NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly) rs1231364424 0.00001
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr) rs747651283 0.00001
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met) rs1012915558 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu) rs908421014 0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340 0.00001
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731 0.00001
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353 0.00001
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met) rs751427069 0.00001
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510 0.00001
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu) rs1016172772 0.00001
NM_000090.4(COL3A1):c.50A>T (p.His17Leu) rs1311785540 0.00001
NM_000090.4(COL3A1):c.578C>T (p.Ser193Phe) rs374532486 0.00001
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) rs751350498 0.00001
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser) rs1325737333 0.00001
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) rs771858477 0.00001
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln) rs760324242 0.00001
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln) rs372025063 0.00001
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser) rs1688161034 0.00001
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr) rs772713162 0.00001
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser) rs1318892403 0.00001
NM_000090.4(COL3A1):c.816T>G (p.Asn272Lys) rs776111781 0.00001
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val) rs1016767830 0.00001
NM_000090.4(COL3A1):c.*3C>A rs1383823798
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser) rs757785982
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
NM_000090.4(COL3A1):c.1010C>T (p.Pro337Leu) rs1688217484
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala) rs1688218490
NM_000090.4(COL3A1):c.1050+3A>G
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile) rs1688228735
NM_000090.4(COL3A1):c.1073C>A (p.Ser358Tyr) rs2153502278
NM_000090.4(COL3A1):c.1091C>T (p.Ala364Val)
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg) rs1464219199
NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly) rs2153502282
NM_000090.4(COL3A1):c.1118C>T (p.Pro373Leu) rs1688230677
NM_000090.4(COL3A1):c.1149+6T>C
NM_000090.4(COL3A1):c.1195-3T>G rs1688248649
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly) rs201380807
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro) rs373858715
NM_000090.4(COL3A1):c.1216G>C (p.Ala406Pro) rs1283408710
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val) rs1026603456
NM_000090.4(COL3A1):c.1229T>C (p.Met410Thr) rs1369779639
NM_000090.4(COL3A1):c.1230G>T (p.Met410Ile) rs2153502373
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp) rs1688252085
NM_000090.4(COL3A1):c.1265A>G (p.Asn422Ser)
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys) rs2153502439
NM_000090.4(COL3A1):c.1442C>G (p.Ala481Gly) rs1688268227
NM_000090.4(COL3A1):c.1455+4C>A
NM_000090.4(COL3A1):c.1456-15T>G rs1688273707
NM_000090.4(COL3A1):c.1460C>T (p.Ala487Val)
NM_000090.4(COL3A1):c.1472G>C (p.Arg491Pro)
NM_000090.4(COL3A1):c.1480G>T (p.Ala494Ser) rs200866608
NM_000090.4(COL3A1):c.1507A>G (p.Lys503Glu) rs1688275818
NM_000090.4(COL3A1):c.1508A>T (p.Lys503Met)
NM_000090.4(COL3A1):c.1513C>G (p.Pro505Ala) rs776430998
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr) rs926106259
NM_000090.4(COL3A1):c.1543G>A (p.Ala515Thr) rs937534609
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg) rs142085247
NM_000090.4(COL3A1):c.1570C>T (p.Pro524Ser) rs1688292530
NM_000090.4(COL3A1):c.1580A>G (p.Asp527Gly) rs1688292723
NM_000090.4(COL3A1):c.1609G>A (p.Gly537Ser) rs1688304002
NM_000090.4(COL3A1):c.1612A>G (p.Met538Val) rs2153502614
NM_000090.4(COL3A1):c.1622G>C (p.Ser541Thr)
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg) rs868705044
NM_000090.4(COL3A1):c.1652C>T (p.Pro551Leu) rs868705044
NM_000090.4(COL3A1):c.1660C>G (p.Pro554Ala) rs1334678815
NM_000090.4(COL3A1):c.1662+4T>G rs1319321003
NM_000090.4(COL3A1):c.1662+6T>C rs2153502633
NM_000090.4(COL3A1):c.1663-9T>G
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn) rs1688319466
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
NM_000090.4(COL3A1):c.1712C>A (p.Pro571His) rs1688321100
NM_000090.4(COL3A1):c.1723C>T (p.Pro575Ser) rs1688321435
NM_000090.4(COL3A1):c.1729G>A (p.Val577Ile) rs1688321543
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr) rs1327158014
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.4(COL3A1):c.1850A>G (p.Gln617Arg) rs1430358032
NM_000090.4(COL3A1):c.1855C>A (p.Pro619Thr) rs780889214
NM_000090.4(COL3A1):c.1855C>T (p.Pro619Ser) rs780889214
NM_000090.4(COL3A1):c.1856C>G (p.Pro619Arg)
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys) rs769039976
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser) rs762129273
NM_000090.4(COL3A1):c.1919T>C (p.Leu640Ser) rs2153502847
NM_000090.4(COL3A1):c.1923+3A>G rs1214796107
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val) rs1440480352
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) rs2153501357
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.4(COL3A1):c.1975C>T (p.Pro659Ser)
NM_000090.4(COL3A1):c.1976C>G (p.Pro659Arg) rs756822808
NM_000090.4(COL3A1):c.1978-25_1978-11del rs2153502936
NM_000090.4(COL3A1):c.1986G>T (p.Lys662Asn) rs1443558947
NM_000090.4(COL3A1):c.2003C>T (p.Pro668Leu) rs1576467905
NM_000090.4(COL3A1):c.2023-4A>T rs749995320
NM_000090.4(COL3A1):c.204C>A (p.Asp68Glu) rs368299739
NM_000090.4(COL3A1):c.205G>T (p.Asp69Tyr) rs112714742
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val) rs199851835
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser) rs1261828944
NM_000090.4(COL3A1):c.209A>G (p.Gln70Arg) rs2153501359
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu) rs1688402397
NM_000090.4(COL3A1):c.2134C>T (p.Pro712Ser) rs1576468303
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu) rs780028064
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe) rs2153503026
NM_000090.4(COL3A1):c.2236C>A (p.Pro746Thr) rs1688417443
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg) rs1688418367
NM_000090.4(COL3A1):c.2259_2260delinsGA (p.Val754Ile) rs2153503068
NM_000090.4(COL3A1):c.2284-13T>G
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser) rs1688032952
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
NM_000090.4(COL3A1):c.2318C>G (p.Ala773Gly) rs2153503231
NM_000090.4(COL3A1):c.235A>G (p.Ile79Val) rs779214140
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser) rs1576460785
NM_000090.4(COL3A1):c.2499A>T (p.Lys833Asn) rs1688501435
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe) rs1688502124
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala) rs780490668
NM_000090.4(COL3A1):c.2540G>A (p.Gly847Asp)
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val) rs1336654706
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) rs755762264
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr) rs758992360
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro) rs1475390693
NM_000090.4(COL3A1):c.2633G>A (p.Arg878His) rs1419949637
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu) rs1447793042
NM_000090.4(COL3A1):c.2720C>T (p.Pro907Leu) rs1688530290
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.2737G>C (p.Ala913Pro)
NM_000090.4(COL3A1):c.2756T>G (p.Val919Gly) rs1426365127
NM_000090.4(COL3A1):c.2791G>C (p.Glu931Gln)
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu) rs753621331
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr) rs1688533171
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.4(COL3A1):c.2823+5G>A rs1559060755
NM_000090.4(COL3A1):c.2823+5G>C rs1559060755
NM_000090.4(COL3A1):c.2823+5_2823+8del
NM_000090.4(COL3A1):c.2824-10T>A rs2153503519
NM_000090.4(COL3A1):c.283C>A (p.Pro95Thr) rs1688039740
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
NM_000090.4(COL3A1):c.2899C>T (p.Pro967Ser)
NM_000090.4(COL3A1):c.2900C>A (p.Pro967His) rs1688539642
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
NM_000090.4(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu) rs1197947308
NM_000090.4(COL3A1):c.2917C>T (p.Pro973Ser) rs1559060895
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.2980C>A (p.Pro994Thr) rs142457159
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu) rs1688563132
NM_000090.4(COL3A1):c.2982C>T (p.Pro994=)
NM_000090.4(COL3A1):c.2992C>G (p.Gln998Glu)
NM_000090.4(COL3A1):c.3001C>T (p.Pro1001Ser) rs777180110
NM_000090.4(COL3A1):c.300T>A (p.Asn100Lys) rs776373729
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys) rs776373729
NM_000090.4(COL3A1):c.3010G>T (p.Ala1004Ser) rs770199071
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
NM_000090.4(COL3A1):c.3044A>G (p.Asn1015Ser) rs1064796863
NM_000090.4(COL3A1):c.305A>T (p.Gln102Leu) rs748033086
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
NM_000090.4(COL3A1):c.3092A>C (p.Lys1031Thr) rs749725146
NM_000090.4(COL3A1):c.3093+3A>C rs771429937
NM_000090.4(COL3A1):c.3100C>A (p.Arg1034Ser)
NM_000090.4(COL3A1):c.3101G>T (p.Arg1034Leu) rs780788248
NM_000090.4(COL3A1):c.3134C>T (p.Ala1045Val)
NM_000090.4(COL3A1):c.3172G>A (p.Ala1058Thr) rs1576471863
NM_000090.4(COL3A1):c.3190A>G (p.Arg1064Gly)
NM_000090.4(COL3A1):c.3201+3G>A
NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg) rs1559052813
NM_000090.4(COL3A1):c.3235G>T (p.Ala1079Ser) rs1688599491
NM_000090.4(COL3A1):c.3250G>T (p.Ala1084Ser) rs113038686
NM_000090.4(COL3A1):c.3255+11_3255+20dup
NM_000090.4(COL3A1):c.3256-43T>C rs587779667
NM_000090.4(COL3A1):c.3258T>A (p.Gly1086=) rs1688619835
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
NM_000090.4(COL3A1):c.3281A>G (p.Lys1094Arg) rs2153503892
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg) rs1224538144
NM_000090.4(COL3A1):c.3317A>G (p.Lys1106Arg)
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg) rs1688621770
NM_000090.4(COL3A1):c.3341A>G (p.Asn1114Ser)
NM_000090.4(COL3A1):c.3363+4A>C
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
NM_000090.4(COL3A1):c.3388A>G (p.Ile1130Val)
NM_000090.4(COL3A1):c.3415A>G (p.Arg1139Gly) rs1688631864
NM_000090.4(COL3A1):c.3418-5C>G rs377392671
NM_000090.4(COL3A1):c.3422C>T (p.Pro1141Leu) rs1576472883
NM_000090.4(COL3A1):c.3425T>G (p.Val1142Gly) rs777307062
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu) rs1378423439
NM_000090.4(COL3A1):c.3478A>G (p.Ile1160Val) rs1688636735
NM_000090.4(COL3A1):c.3525+5G>A rs2153503988
NM_000090.4(COL3A1):c.3551C>G (p.Pro1184Arg) rs1688657446
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser) rs1324996402
NM_000090.4(COL3A1):c.3574_3582del (p.Ala1192_Gly1194del) rs2153504077
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser) rs1275851079
NM_000090.4(COL3A1):c.3595G>A (p.Gly1199Ser) rs2153504082
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val) rs1688658772
NM_000090.4(COL3A1):c.3601_3602delinsTT (p.Gly1201Leu)
NM_000090.4(COL3A1):c.3628G>A (p.Gly1210Ser)
NM_000090.4(COL3A1):c.3637G>C (p.Ala1213Pro) rs1427744978
NM_000090.4(COL3A1):c.3658T>A (p.Tyr1220Asn) rs1688661231
NM_000090.4(COL3A1):c.3670C>T (p.Pro1224Ser)
NM_000090.4(COL3A1):c.3676G>A (p.Asp1226Asn) rs1453881906
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn) rs1688664293
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys) rs1576473569
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu) rs368119434
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln) rs946156674
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser) rs1194692141
NM_000090.4(COL3A1):c.3801C>G (p.Phe1267Leu) rs1042884028
NM_000090.4(COL3A1):c.3803G>C (p.Cys1268Ser) rs1688665916
NM_000090.4(COL3A1):c.3824-13T>G rs1000595244
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu) rs757734757
NM_000090.4(COL3A1):c.3868A>G (p.Ile1290Val)
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr) rs1688690716
NM_000090.4(COL3A1):c.3873G>C (p.Lys1291Asn)
NM_000090.4(COL3A1):c.3907A>G (p.Ile1303Val)
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser) rs1688691968
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu) rs886038983
NM_000090.4(COL3A1):c.3940C>T (p.His1314Tyr) rs1688692678
NM_000090.4(COL3A1):c.3953A>G (p.Asp1318Gly) rs1688692973
NM_000090.4(COL3A1):c.3964G>C (p.Glu1322Gln) rs149522780
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn) rs2153504249
NM_000090.4(COL3A1):c.3996G>A (p.Met1332Ile)
NM_000090.4(COL3A1):c.4046T>C (p.Val1349Ala)
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val) rs945183835
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln) rs1227282800
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu) rs1060500196
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His) rs1029608155
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) rs1158116878
NM_000090.4(COL3A1):c.416G>C (p.Gly139Ala)
NM_000090.4(COL3A1):c.4178T>G (p.Met1393Arg) rs1688707596
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr) rs750849196
NM_000090.4(COL3A1):c.4226C>G (p.Thr1409Ser) rs1688708929
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys) rs1012915558
NM_000090.4(COL3A1):c.4255-11C>A rs766242305
NM_000090.4(COL3A1):c.4255-13T>G rs1688727983
NM_000090.4(COL3A1):c.4255-5del
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg) rs1688728943
NM_000090.4(COL3A1):c.4275C>G (p.Ser1425Arg) rs1688728943
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln) rs772428340
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) rs148015311
NM_000090.4(COL3A1):c.431G>A (p.Cys144Tyr) rs1688053672
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
NM_000090.4(COL3A1):c.4330A>G (p.Ile1444Val) rs1688730862
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr) rs1688732943
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
NM_000090.4(COL3A1):c.493G>C (p.Ala165Pro)
NM_000090.4(COL3A1):c.494C>T (p.Ala165Val)
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del) rs1688079577
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu) rs746628029
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
NM_000090.4(COL3A1):c.582+4_582+7dup
NM_000090.4(COL3A1):c.583-14A>T
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
NM_000090.4(COL3A1):c.605C>T (p.Pro202Leu) rs1688111694
NM_000090.4(COL3A1):c.607C>G (p.Pro203Ala) rs1688111809
NM_000090.4(COL3A1):c.607C>T (p.Pro203Ser) rs1688111809
NM_000090.4(COL3A1):c.617C>G (p.Pro206Arg) rs1268896574
NM_000090.4(COL3A1):c.659C>T (p.Ala220Val) rs867258281
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
NM_000090.4(COL3A1):c.679G>T (p.Ala227Ser)
NM_000090.4(COL3A1):c.739C>A (p.Pro247Thr) rs1688156029
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg) rs748787122
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) rs1688161240
NM_000090.4(COL3A1):c.80C>A (p.Ala27Asp) rs759521597
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000090.4(COL3A1):c.839C>T (p.Ala280Val) rs1422693997
NM_000090.4(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.4(COL3A1):c.852G>A (p.Lys284=)
NM_000090.4(COL3A1):c.86_88del (p.Glu29del) rs1559052566
NM_000090.4(COL3A1):c.898-4G>T
NM_000090.4(COL3A1):c.902C>T (p.Pro301Leu) rs1273313377
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
NM_000090.4(COL3A1):c.911C>T (p.Ala304Val) rs730880061
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser) rs2153502120
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.947C>T (p.Ala316Val) rs2153502123
NM_000090.4(COL3A1):c.958C>T (p.Arg320Trp) rs1386163891
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln) rs778179067
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly) rs1688204324

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