ClinVar Miner

List of variants in gene COL5A2 studied for Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00066
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00060
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=) rs375110673 0.00019
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr) rs754018138 0.00017
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799 0.00016
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866 0.00015
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373 0.00010
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570 0.00009
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335 0.00009
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His) rs529317104 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771 0.00006
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825 0.00006
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=) rs1131429 0.00006
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=) rs138837670 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.735T>G (p.Pro245=) rs148851552 0.00006
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538 0.00005
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=) rs762976916 0.00004
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060 0.00004
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130 0.00004
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=) rs201460445 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=) rs760353505 0.00004
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322 0.00004
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516 0.00004
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608 0.00004
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608 0.00004
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=) rs371225266 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys) rs201961021 0.00003
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132 0.00003
NM_000393.5(COL5A2):c.3717C>T (p.His1239=) rs769790821 0.00003
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=) rs767144730 0.00003
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593 0.00003
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930 0.00003
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702 0.00003
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937 0.00003
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151 0.00003
NM_000393.5(COL5A2):c.537G>A (p.Pro179=) rs762891893 0.00003
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009 0.00002
NM_000393.5(COL5A2):c.2031+3A>G rs201947903 0.00002
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=) rs375877757 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg) rs374402209 0.00002
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380 0.00002
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702 0.00002
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175 0.00002
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr) rs1243023432 0.00002
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys) rs1247714244 0.00002
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=) rs529257786 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=) rs863223485 0.00001
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592 0.00001
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490 0.00001
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser) rs369506320 0.00001
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558 0.00001
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys) rs144652675 0.00001
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=) rs549187703 0.00001
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003 0.00001
NM_000393.5(COL5A2):c.2392-4A>G rs758314268 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093 0.00001
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp) rs778544623 0.00001
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.270G>A (p.Gly90=) rs756103588 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282 0.00001
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=) rs1685766903 0.00001
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=) rs757271535 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=) rs777896102 0.00001
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584 0.00001
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363 0.00001
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=) rs746246121 0.00001
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=) rs1576490715 0.00001
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455 0.00001
NM_000393.5(COL5A2):c.3290C>T (p.Ala1097Val) rs1162768110 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843 0.00001
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=) rs140022057 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177 0.00001
NM_000393.5(COL5A2):c.3883A>G (p.Thr1295Ala) rs765068787 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632 0.00001
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys) rs141206016 0.00001
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575 0.00001
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060 0.00001
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp) rs146982082 0.00001
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys) rs1430667498 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057 0.00001
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala) rs1686805632 0.00001
NM_000393.5(COL5A2):c.587C>A (p.Ala196Asp) rs746671710 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.798+5G>A rs1296613540 0.00001
NM_000393.5(COL5A2):c.1005+4T>C
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln) rs766119748
NM_000393.5(COL5A2):c.134G>A (p.Gly45Asp)
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) rs548441536
NM_000393.5(COL5A2):c.1354C>T (p.Pro452Ser)
NM_000393.5(COL5A2):c.1394G>T (p.Gly465Val) rs886039081
NM_000393.5(COL5A2):c.141G>A (p.Met47Ile) rs1553519048
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=) rs368133226
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.151A>C (p.Arg51=)
NM_000393.5(COL5A2):c.1539T>C (p.Gly513=)
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1588C>G (p.Pro530Ala) rs772872008
NM_000393.5(COL5A2):c.1627G>A (p.Gly543Arg)
NM_000393.5(COL5A2):c.1642G>A (p.Val548Ile)
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1728A>C (p.Gly576=)
NM_000393.5(COL5A2):c.1737T>C (p.Gly579=)
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
NM_000393.5(COL5A2):c.1808G>C (p.Gly603Ala) rs1553515338
NM_000393.5(COL5A2):c.180G>A (p.Gln60=) rs759303686
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
NM_000393.5(COL5A2):c.191G>C (p.Cys64Ser)
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.2009C>A (p.Pro670His)
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=) rs1307423893
NM_000393.5(COL5A2):c.2181C>T (p.Leu727=)
NM_000393.5(COL5A2):c.2200G>A (p.Ala734Thr)
NM_000393.5(COL5A2):c.2223C>G (p.Gly741=)
NM_000393.5(COL5A2):c.2232C>A (p.Gly744=)
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=) rs928855762
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2355A>G (p.Lys785=)
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
NM_000393.5(COL5A2):c.2412C>T (p.Gly804=)
NM_000393.5(COL5A2):c.247G>T (p.Ala83Ser) rs1553519033
NM_000393.5(COL5A2):c.2489G>C (p.Arg830Pro)
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr) rs863223506
NM_000393.5(COL5A2):c.261G>T (p.Thr87=)
NM_000393.5(COL5A2):c.2634A>T (p.Gln878His)
NM_000393.5(COL5A2):c.271G>C (p.Glu91Gln) rs730880065
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=)
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro) rs761988412
NM_000393.5(COL5A2):c.2838C>T (p.Asp946=)
NM_000393.5(COL5A2):c.2849A>G (p.His950Arg) rs761035694
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2871A>G (p.Gly957=)
NM_000393.5(COL5A2):c.2997G>C (p.Gly999=)
NM_000393.5(COL5A2):c.3049G>C (p.Gly1017Arg)
NM_000393.5(COL5A2):c.3056T>C (p.Val1019Ala)
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.3093T>C (p.Pro1031=)
NM_000393.5(COL5A2):c.3171C>A (p.Thr1057=)
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3200G>C (p.Arg1067Pro)
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
NM_000393.5(COL5A2):c.3310-4T>G rs2153507285
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val) rs981465775
NM_000393.5(COL5A2):c.3426G>A (p.Lys1142=)
NM_000393.5(COL5A2):c.3465C>A (p.Gly1155=)
NM_000393.5(COL5A2):c.3465C>G (p.Gly1155=)
NM_000393.5(COL5A2):c.3472-3T>A
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3521C>T (p.Pro1174Leu)
NM_000393.5(COL5A2):c.3592C>T (p.Pro1198Ser)
NM_000393.5(COL5A2):c.3649C>T (p.Pro1217Ser)
NM_000393.5(COL5A2):c.3675C>T (p.Pro1225=) rs1576486602
NM_000393.5(COL5A2):c.3689C>T (p.Thr1230Ile)
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
NM_000393.5(COL5A2):c.3707T>A (p.Ile1236Asn)
NM_000393.5(COL5A2):c.3737A>G (p.Asp1246Gly)
NM_000393.5(COL5A2):c.3747T>C (p.Pro1249=)
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
NM_000393.5(COL5A2):c.3852C>T (p.Ser1284=)
NM_000393.5(COL5A2):c.3967G>A (p.Ala1323Thr)
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
NM_000393.5(COL5A2):c.4122T>C (p.Tyr1374=)
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
NM_000393.5(COL5A2):c.4176T>A (p.Leu1392=)
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
NM_000393.5(COL5A2):c.4308G>A (p.Glu1436=)
NM_000393.5(COL5A2):c.4350C>T (p.Cys1450=)
NM_000393.5(COL5A2):c.439G>A (p.Gly147Arg)
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val) rs886039069
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
NM_000393.5(COL5A2):c.4428T>C (p.Asp1476=)
NM_000393.5(COL5A2):c.4464A>G (p.Glu1488=)
NM_000393.5(COL5A2):c.4485A>T (p.Pro1495=)
NM_000393.5(COL5A2):c.4491T>C (p.Cys1497=)
NM_000393.5(COL5A2):c.454C>A (p.Pro152Thr) rs1553518198
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu) rs774969990
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg) rs1553517410
NM_000393.5(COL5A2):c.797A>T (p.Asp266Val)
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_000393.5(COL5A2):c.834G>A (p.Val278=)
NM_000393.5(COL5A2):c.861T>G (p.Arg287=) rs1559094497
NM_000393.5(COL5A2):c.894G>C (p.Leu298=) rs186775192
NM_000393.5(COL5A2):c.897G>C (p.Lys299Asn)
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro) rs545574407
NM_000393.5(COL5A2):c.918T>A (p.Gly306=)
NM_000393.5(COL5A2):c.93G>A (p.Glu31=)
NM_000393.5(COL5A2):c.948A>C (p.Ala316=)
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.964G>A (p.Glu322Lys)
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
NM_000393.5(COL5A2):c.989G>A (p.Gly330Asp) rs753514566

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