ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance for Ehlers-Danlos syndrome, classic type, 1

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Gene type:
ClinVar version:
Total variants: 527
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000393.5(COL5A2):c.1770+4A>G rs200097779 0.00005
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317 0.00005
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538 0.00004
NM_000393.5(COL5A2):c.3310-3T>A rs752705717 0.00004
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val) rs370121305 0.00003
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673 0.00003
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064 0.00003
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937 0.00003
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415 0.00002
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743 0.00002
NM_000393.5(COL5A2):c.1717-3C>T rs760304144 0.00002
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser) rs773726323 0.00002
NM_000393.5(COL5A2):c.2031+3A>G rs201947903 0.00002
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser) rs372270389 0.00002
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala) rs753363765 0.00002
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg) rs1286805423 0.00002
NM_000393.5(COL5A2):c.2553+5A>T rs371072906 0.00002
NM_000393.5(COL5A2):c.3136C>A (p.Pro1046Thr) rs1576493005 0.00002
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132 0.00002
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455 0.00002
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys) rs747946828 0.00002
NM_000393.5(COL5A2):c.3471+3A>G rs929722223 0.00002
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr) rs1243023432 0.00002
NM_000393.5(COL5A2):c.4163C>G (p.Thr1388Ser) rs771415085 0.00002
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp) rs760569641 0.00002
NM_000393.5(COL5A2):c.1005+4T>C rs1686475981 0.00001
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082 0.00001
NM_000393.5(COL5A2):c.1040T>A (p.Leu347His) rs1356274894 0.00001
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874 0.00001
NM_000393.5(COL5A2):c.1229C>T (p.Pro410Leu) rs775078923 0.00001
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala) rs1430271322 0.00001
NM_000393.5(COL5A2):c.1246C>G (p.Pro416Ala) rs1412825331 0.00001
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049 0.00001
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe) rs768584034 0.00001
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987 0.00001
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu) rs757674141 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798 0.00001
NM_000393.5(COL5A2):c.1402-3C>T rs746439529 0.00001
NM_000393.5(COL5A2):c.1453C>G (p.Pro485Ala) rs757065474 0.00001
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441 0.00001
NM_000393.5(COL5A2):c.1541C>T (p.Pro514Leu) rs1686149079 0.00001
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 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.1618-7G>A rs77456219 0.00001
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser) rs369506320 0.00001
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503 0.00001
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852 0.00001
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439 0.00001
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951 0.00001
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505 0.00001
NM_000393.5(COL5A2):c.1770G>A (p.Leu590=) rs1686089713 0.00001
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906 0.00001
NM_000393.5(COL5A2):c.1865G>A (p.Ser622Asn) rs368816781 0.00001
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu) rs760694980 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.2032-3T>G rs1199275638 0.00001
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677 0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492 0.00001
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr) rs1161664875 0.00001
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=) rs1451386429 0.00001
NM_000393.5(COL5A2):c.2200G>A (p.Ala734Thr) rs774571321 0.00001
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220 0.00001
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270 0.00001
NM_000393.5(COL5A2):c.235G>A (p.Val79Met) rs1181992113 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2429G>T (p.Gly810Val) rs1685852326 0.00001
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln) rs1269087368 0.00001
NM_000393.5(COL5A2):c.2486C>T (p.Ser829Phe) rs771633594 0.00001
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser) rs1251112610 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu) rs938162476 0.00001
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp) rs746155819 0.00001
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu) rs143261719 0.00001
NM_000393.5(COL5A2):c.2661T>C (p.His887=) rs764961048 0.00001
NM_000393.5(COL5A2):c.2756C>T (p.Pro919Leu) rs1388047059 0.00001
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val) rs747843876 0.00001
NM_000393.5(COL5A2):c.2791C>T (p.Pro931Ser) rs1182035468 0.00001
NM_000393.5(COL5A2):c.2800G>C (p.Glu934Gln) rs751499848 0.00001
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025 0.00001
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513 0.00001
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu) rs1685782846 0.00001
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147 0.00001
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00001
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982 0.00001
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile) rs1200980765 0.00001
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser) rs773078129 0.00001
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala) rs768663426 0.00001
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys) rs539362640 0.00001
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601 0.00001
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His) rs780705330 0.00001
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp) rs1685656634 0.00001
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val) rs1411374373 0.00001
NM_000393.5(COL5A2):c.3250G>A (p.Ala1084Thr) rs1432653441 0.00001
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775 0.00001
NM_000393.5(COL5A2):c.3299G>C (p.Arg1100Thr) rs942673350 0.00001
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val) rs981465775 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.3380G>A (p.Arg1127His) rs770497804 0.00001
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn) rs750574093 0.00001
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser) rs367939836 0.00001
NM_000393.5(COL5A2):c.3586A>G (p.Ile1196Val) rs1271802995 0.00001
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907 0.00001
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546 0.00001
NM_000393.5(COL5A2):c.3737A>G (p.Asp1246Gly) rs750939173 0.00001
NM_000393.5(COL5A2):c.3748G>A (p.Glu1250Lys) rs2469221440 0.00001
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177 0.00001
NM_000393.5(COL5A2):c.3832C>A (p.Gln1278Lys) rs147767226 0.00001
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn) rs1194645204 0.00001
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979 0.00001
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886 0.00001
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg) rs138900123 0.00001
NM_000393.5(COL5A2):c.3926-3T>C rs1685452266 0.00001
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu) rs745580343 0.00001
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653 0.00001
NM_000393.5(COL5A2):c.4185A>G (p.Lys1395=) rs1342694343 0.00001
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly) rs1685415466 0.00001
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly) rs1215560539 0.00001
NM_000393.5(COL5A2):c.4297A>T (p.Ile1433Phe) rs1409867440 0.00001
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794 0.00001
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060 0.00001
NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val) rs1163031439 0.00001
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser) rs775322653 0.00001
NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr) rs1227167162 0.00001
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057 0.00001
NM_000393.5(COL5A2):c.491C>A (p.Pro164Gln) rs1288294024 0.00001
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu) rs774969990 0.00001
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115 0.00001
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile) rs746289356 0.00001
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly) rs773748617 0.00001
NM_000393.5(COL5A2):c.798+5G>A rs1296613540 0.00001
NM_000393.5(COL5A2):c.852+4A>T rs376981154 0.00001
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr) rs146648810 0.00001
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys) rs779241228 0.00001
NM_000393.5(COL5A2):c.860G>A (p.Arg287His) rs1200446786 0.00001
NM_000393.5(COL5A2):c.911A>G (p.His304Arg) rs1576513195 0.00001
NM_000393.5(COL5A2):c.929C>T (p.Pro310Leu) rs1422843761 0.00001
NC_000002.11:g.(?_189898796)_(189953518_?)dup
NC_000002.12:g.(?_189078506)_(189081053_?)del
NC_000002.12:g.(?_189100087)_(189100159_?)del
NM_000393.5(COL5A2):c.1005+5G>T rs752557532
NM_000393.5(COL5A2):c.1010C>A (p.Pro337Gln) rs766349082
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg) rs2469338627
NM_000393.5(COL5A2):c.1029G>C (p.Glu343Asp)
NM_000393.5(COL5A2):c.1045C>T (p.Pro349Ser) rs2469338494
NM_000393.5(COL5A2):c.1059+6T>C rs2469338440
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His) rs2469330737
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp) rs2469330715
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu) rs776312058
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala) rs2469321911
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1126T>C (p.Ser376Pro) rs2469321807
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu) rs1576507871
NM_000393.5(COL5A2):c.1158+3A>G rs2469321713
NM_000393.5(COL5A2):c.1158G>A (p.Lys386=) rs2105613322
NM_000393.5(COL5A2):c.1171C>T (p.Pro391Ser) rs2105605678
NM_000393.5(COL5A2):c.1171_1172delinsGT (p.Pro391Val) rs2469314465
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala) rs2469314359
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu) rs2469314342
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly) rs1686209467
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val) rs2469314307
NM_000393.5(COL5A2):c.1244C>T (p.Ser415Phe) rs868256946
NM_000393.5(COL5A2):c.1246C>T (p.Pro416Ser) rs1412825331
NM_000393.5(COL5A2):c.1255C>T (p.Pro419Ser) rs1245178744
NM_000393.5(COL5A2):c.1261G>T (p.Ala421Ser) rs200839338
NM_000393.5(COL5A2):c.1300A>G (p.Thr434Ala)
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys) rs145850743
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser) rs1686192801
NM_000393.5(COL5A2):c.1310_1311inv (p.Pro437Leu)
NM_000393.5(COL5A2):c.131A>C (p.Asn44Thr) rs2469425510
NM_000393.5(COL5A2):c.1360C>T (p.Pro454Ser) rs1686191057
NM_000393.5(COL5A2):c.1361C>T (p.Pro454Leu) rs2469311041
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly) rs1686190878
NM_000393.5(COL5A2):c.136C>G (p.Gln46Glu) rs2469425484
NM_000393.5(COL5A2):c.1372A>T (p.Thr458Ser) rs2469310995
NM_000393.5(COL5A2):c.1379C>T (p.Pro460Leu) rs2105603424
NM_000393.5(COL5A2):c.1399C>T (p.Pro467Ser)
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile) rs932169827
NM_000393.5(COL5A2):c.1442C>T (p.Pro481Leu) rs2469307766
NM_000393.5(COL5A2):c.1451A>C (p.Glu484Ala) rs778752185
NM_000393.5(COL5A2):c.1453C>A (p.Pro485Thr) rs757065474
NM_000393.5(COL5A2):c.1455+6del rs763475800
NM_000393.5(COL5A2):c.1456-3C>G rs1372167655
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg) rs2469306459
NM_000393.5(COL5A2):c.1460C>T (p.Pro487Leu)
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro) rs149305351
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp) rs2469306392
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln) rs200428114
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu) rs2469306189
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu) rs371125581
NM_000393.5(COL5A2):c.1561A>G (p.Arg521Gly) rs2469306067
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1583G>A (p.Gly528Asp) rs2105595796
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg) rs1576503605
NM_000393.5(COL5A2):c.1617G>T (p.Lys539Asn) rs2469302146
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr) rs768348357
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1634G>A (p.Arg545Gln) rs757405120
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg) rs778171609
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.5(COL5A2):c.1677T>A (p.Asp559Glu) rs1398449643
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly) rs2469300589
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.1702C>A (p.Leu568Ile)
NM_000393.5(COL5A2):c.1714C>G (p.Arg572Gly)
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro) rs760408439
NM_000393.5(COL5A2):c.1716+13C>T rs779517028
NM_000393.5(COL5A2):c.1717-31_1717-18del
NM_000393.5(COL5A2):c.1718G>T (p.Gly573Val) rs2469298490
NM_000393.5(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.5(COL5A2):c.1753G>A (p.Gly585Arg) rs1686090076
NM_000393.5(COL5A2):c.1770+6T>C rs1686089547
NM_000393.5(COL5A2):c.1774G>A (p.Ala592Thr)
NM_000393.5(COL5A2):c.1778C>G (p.Pro593Arg)
NM_000393.5(COL5A2):c.1778C>T (p.Pro593Leu)
NM_000393.5(COL5A2):c.1787A>T (p.Asp596Val) rs768939237
NM_000393.5(COL5A2):c.1798_1800dup (p.Gly600_Pro601insGly) rs2469296175
NM_000393.5(COL5A2):c.1799G>A (p.Gly600Asp)
NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val) rs2105590990
NM_000393.5(COL5A2):c.17C>A (p.Ala6Glu) rs2469601925
NM_000393.5(COL5A2):c.1801C>A (p.Pro601Thr) rs2469296166
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp) rs1553515338
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val) rs2105590952
NM_000393.5(COL5A2):c.181A>G (p.Ile61Val) rs1687237119
NM_000393.5(COL5A2):c.181A>T (p.Ile61Phe)
NM_000393.5(COL5A2):c.182TCTGTG[1] (p.Val63_Cys64del) rs1687236750
NM_000393.5(COL5A2):c.1830G>T (p.Gln610His) rs2469296006
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala) rs1438423994
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg) rs1428026630
NM_000393.5(COL5A2):c.1868G>A (p.Ser623Asn) rs2105590768
NM_000393.5(COL5A2):c.1869+3G>A rs1686072492
NM_000393.5(COL5A2):c.1869+7A>G
NM_000393.5(COL5A2):c.1875C>A (p.Asp625Glu)
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr) rs1487147556
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser) rs2469295098
NM_000393.5(COL5A2):c.1924-17T>C rs2469294864
NM_000393.5(COL5A2):c.1930C>T (p.Pro644Ser)
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys) rs2469294761
NM_000393.5(COL5A2):c.1966G>A (p.Val656Met)
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser) rs1686065578
NM_000393.5(COL5A2):c.1973C>A (p.Pro658Gln) rs746458284
NM_000393.5(COL5A2):c.1978-6A>G rs2469290919
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val) rs2469290902
NM_000393.5(COL5A2):c.2031+6C>T rs1686033754
NM_000393.5(COL5A2):c.2032-3T>C rs1199275638
NM_000393.5(COL5A2):c.2036T>A (p.Leu679His)
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu) rs1019506931
NM_000393.5(COL5A2):c.2062G>A (p.Glu688Lys) rs2469287996
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala) rs541711311
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg) rs142224646
NM_000393.5(COL5A2):c.2075C>G (p.Pro692Arg) rs863223492
NM_000393.5(COL5A2):c.2089G>C (p.Val697Leu)
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr) rs146005731
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr) rs2469281045
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser) rs2469425273
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg) rs2469279515
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.5(COL5A2):c.220A>G (p.Ile74Val)
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro) rs1559083259
NM_000393.5(COL5A2):c.2234G>T (p.Ser745Ile) rs2105575470
NM_000393.5(COL5A2):c.2261A>G (p.Asp754Gly) rs755334879
NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr) rs2469425204
NM_000393.5(COL5A2):c.2281C>G (p.Gln761Glu) rs2469276036
NM_000393.5(COL5A2):c.2295A>G (p.Gly765=) rs2469275962
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg) rs1357408674
NM_000393.5(COL5A2):c.2327A>C (p.Lys776Thr)
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly) rs1032000194
NM_000393.5(COL5A2):c.2345T>A (p.Ile782Lys) rs1198104925
NM_000393.5(COL5A2):c.2359G>T (p.Ala787Ser)
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr) rs2469274202
NM_000393.5(COL5A2):c.2389A>G (p.Arg797Gly) rs2105573986
NM_000393.5(COL5A2):c.2391+12_2391+13insAAGAGTAAGTGAAAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAGCACGAGGTCAGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000393.5(COL5A2):c.2393G>T (p.Gly798Val) rs2469267137
NM_000393.5(COL5A2):c.2404C>A (p.Pro802Thr) rs1336044373
NM_000393.5(COL5A2):c.2410G>T (p.Gly804Cys)
NM_000393.5(COL5A2):c.241G>A (p.Asp81Asn) rs2469425124
NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr) rs2469266931
NM_000393.5(COL5A2):c.2434A>C (p.Thr812Pro) rs2469266912
NM_000393.5(COL5A2):c.2446-13A>G rs1371293024
NM_000393.5(COL5A2):c.2479C>A (p.Pro827Thr)
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln) rs751683516
NM_000393.5(COL5A2):c.2512G>A (p.Glu838Lys) rs2469263867
NM_000393.5(COL5A2):c.2545G>A (p.Gly849Arg) rs368239207
NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg) rs863223493
NM_000393.5(COL5A2):c.2554-3T>C
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.5(COL5A2):c.256G>A (p.Val86Ile) rs1387694873
NM_000393.5(COL5A2):c.2584G>A (p.Glu862Lys) rs1685823479
NM_000393.5(COL5A2):c.2587C>A (p.Pro863Thr) rs1380175503
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro) rs1687234505
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2642C>T (p.Ala881Val) rs1685821871
NM_000393.5(COL5A2):c.2650C>A (p.Pro884Thr) rs2469261598
NM_000393.5(COL5A2):c.2653G>A (p.Gly885Ser) rs2469261590
NM_000393.5(COL5A2):c.2661+17_2661+20delinsCTTGAGTCAAGTTAA rs2469261519
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp) rs761453798
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg) rs2105563064
NM_000393.5(COL5A2):c.2683C>G (p.Leu895Val)
NM_000393.5(COL5A2):c.2689G>C (p.Gly897Arg)
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln) rs189320512
NM_000393.5(COL5A2):c.271G>A (p.Glu91Lys)
NM_000393.5(COL5A2):c.2741C>A (p.Ala914Glu)
NM_000393.5(COL5A2):c.2762G>C (p.Gly921Ala) rs150206569
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala) rs1349278394
NM_000393.5(COL5A2):c.2780G>C (p.Gly927Ala) rs887006122
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu) rs747843876
NM_000393.5(COL5A2):c.2789G>A (p.Gly930Glu) rs2469256807
NM_000393.5(COL5A2):c.2789G>T (p.Gly930Val) rs2469256807
NM_000393.5(COL5A2):c.2806G>A (p.Gly936Arg) rs1471655044
NM_000393.5(COL5A2):c.2812G>A (p.Glu938Lys) rs2105559330
NM_000393.5(COL5A2):c.2816G>A (p.Gly939Glu) rs200605931
NM_000393.5(COL5A2):c.281C>T (p.Pro94Leu) rs1687233615
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro) rs761988412
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala) rs1027615025
NM_000393.5(COL5A2):c.284T>C (p.Val95Ala)
NM_000393.5(COL5A2):c.2851G>A (p.Gly951Arg) rs1425213341
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser) rs957007431
NM_000393.5(COL5A2):c.2891G>C (p.Gly964Ala)
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr) rs1193876792
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val) rs2469256000
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg) rs2469255981
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser) rs1576494351
NM_000393.5(COL5A2):c.2931+5G>T rs2105558579
NM_000393.5(COL5A2):c.2932-7A>G
NM_000393.5(COL5A2):c.2932G>C (p.Gly978Arg) rs2153508067
NM_000393.5(COL5A2):c.2939A>G (p.Asp980Gly)
NM_000393.5(COL5A2):c.2941G>A (p.Gly981Ser) rs2153508066
NM_000393.5(COL5A2):c.2945C>A (p.Pro982His) rs1366499731
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg) rs1576493931
NM_000393.5(COL5A2):c.2969G>A (p.Gly990Glu)
NM_000393.5(COL5A2):c.2980A>T (p.Ile994Phe) rs1007365259
NM_000393.5(COL5A2):c.2983G>C (p.Val995Leu) rs888930136
NM_000393.5(COL5A2):c.3001C>G (p.Arg1001Gly) rs863223507
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3035C>A (p.Pro1012Gln) rs2469252702
NM_000393.5(COL5A2):c.3039+3G>A
NM_000393.5(COL5A2):c.3039+6T>A
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val) rs2469249924
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val) rs1685736900
NM_000393.5(COL5A2):c.3084A>C (p.Lys1028Asn) rs774936724
NM_000393.5(COL5A2):c.3122G>A (p.Gly1041Asp) rs781185515
NM_000393.5(COL5A2):c.3127G>A (p.Val1043Ile) rs1186405696
NM_000393.5(COL5A2):c.3136C>T (p.Pro1046Ser)
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln) rs1685734191
NM_000393.5(COL5A2):c.3147+5_3147+16del rs2469249510
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser) rs2153507740
NM_000393.5(COL5A2):c.3179G>A (p.Arg1060Gln)
NM_000393.5(COL5A2):c.3179G>C (p.Arg1060Pro) rs761042179
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile) rs1576577162
NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn) rs2469239941
NM_000393.5(COL5A2):c.3227C>T (p.Ala1076Val)
NM_000393.5(COL5A2):c.3246G>T (p.Gln1082His)
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3259A>G (p.Thr1087Ala)
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser) rs1235942758
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr) rs761543775
NM_000393.5(COL5A2):c.3278C>A (p.Ala1093Asp) rs2469239699
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg) rs1576490680
NM_000393.5(COL5A2):c.3284G>T (p.Gly1095Val)
NM_000393.5(COL5A2):c.3289G>T (p.Ala1097Ser)
NM_000393.5(COL5A2):c.3295C>G (p.Gln1099Glu) rs2469239639
NM_000393.5(COL5A2):c.3309+6G>A rs775681859
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser) rs1685640502
NM_000393.5(COL5A2):c.3334C>A (p.Pro1112Thr) rs553087567
NM_000393.5(COL5A2):c.3334C>T (p.Pro1112Ser) rs553087567
NM_000393.5(COL5A2):c.3338G>A (p.Gly1113Asp)
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu) rs377049803
NM_000393.5(COL5A2):c.3347G>A (p.Gly1116Glu) rs2469237455
NM_000393.5(COL5A2):c.336+3A>T rs762140704
NM_000393.5(COL5A2):c.336+5G>A
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg) rs2469232610
NM_000393.5(COL5A2):c.3373G>C (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys) rs1250788634
NM_000393.5(COL5A2):c.3387C>A (p.Asp1129Glu)
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3394G>A (p.Asp1132Asn) rs2469232502
NM_000393.5(COL5A2):c.3395A>G (p.Asp1132Gly) rs781112304
NM_000393.5(COL5A2):c.3428G>A (p.Gly1143Asp) rs1685595072
NM_000393.5(COL5A2):c.3435A>C (p.Arg1145Ser)
NM_000393.5(COL5A2):c.3445G>A (p.Gly1149Ser)
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn) rs2105690115
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala) rs191227240
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly) rs750486580
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His) rs2153506953
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.5(COL5A2):c.3538C>T (p.Pro1180Ser) rs1275132077
NM_000393.5(COL5A2):c.3566A>C (p.Asn1189Thr)
NM_000393.5(COL5A2):c.3587T>C (p.Ile1196Thr)
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg) rs2469227604
NM_000393.5(COL5A2):c.3592C>T (p.Pro1198Ser) rs1685564435
NM_000393.5(COL5A2):c.3599G>T (p.Gly1200Val) rs1685564185
NM_000393.5(COL5A2):c.3601G>A (p.Val1201Ile) rs1685564109
NM_000393.5(COL5A2):c.3605G>A (p.Arg1202Gln) rs2469227534
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp) rs1576488066
NM_000393.5(COL5A2):c.3613G>T (p.Val1205Leu) rs377660244
NM_000393.5(COL5A2):c.3625G>C (p.Gly1209Arg) rs2469227459
NM_000393.5(COL5A2):c.3631G>A (p.Glu1211Lys) rs2469227441
NM_000393.5(COL5A2):c.3634-3T>C rs2469222036
NM_000393.5(COL5A2):c.3634G>C (p.Gly1212Arg) rs1486324773
NM_000393.5(COL5A2):c.3635G>A (p.Gly1212Asp) rs2469222025
NM_000393.5(COL5A2):c.3641C>A (p.Pro1214His) rs1308734623
NM_000393.5(COL5A2):c.3656C>A (p.Pro1219Gln) rs1685515304
NM_000393.5(COL5A2):c.3683A>T (p.His1228Leu)
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala) rs767234623
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr) rs2469221758
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro) rs1263127952
NM_000393.5(COL5A2):c.3704A>G (p.Asp1235Gly)
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val) rs1685513453
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg) rs1261622137
NM_000393.5(COL5A2):c.3736G>A (p.Asp1246Asn) rs2469221515
NM_000393.5(COL5A2):c.3743T>C (p.Leu1248Pro) rs2153506518
NM_000393.5(COL5A2):c.3766G>A (p.Ala1256Thr) rs2469221389
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu) rs2469221281
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu) rs1064795177
NM_000393.5(COL5A2):c.3800G>T (p.Gly1267Val) rs2469221220
NM_000393.5(COL5A2):c.3802G>T (p.Val1268Phe) rs2469221206
NM_000393.5(COL5A2):c.3806A>G (p.His1269Arg)
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly) rs1685510057
NM_000393.5(COL5A2):c.383G>C (p.Arg128Pro)
NM_000393.5(COL5A2):c.3847C>T (p.Arg1283Cys) rs757841252
NM_000393.5(COL5A2):c.3857A>G (p.Asp1286Gly)
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val) rs1327072014
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu) rs1400525255
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys) rs2153506166
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu) rs1685452114
NM_000393.5(COL5A2):c.4004C>T (p.Thr1335Ile)
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro) rs762420291
NM_000393.5(COL5A2):c.4064C>G (p.Pro1355Arg)
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu) rs771590535
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4081T>C (p.Trp1361Arg) rs761506002
NM_000393.5(COL5A2):c.4093G>A (p.Asp1365Asn) rs2469214027
NM_000393.5(COL5A2):c.4100A>G (p.Asn1367Ser)
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg) rs767685753
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu) rs759631023
NM_000393.5(COL5A2):c.4113+3A>G rs1685448298
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr) rs1685418656
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg) rs2469390363
NM_000393.5(COL5A2):c.4154C>T (p.Thr1385Ile) rs2469209785
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile) rs1424971937
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.5(COL5A2):c.4171C>T (p.Arg1391Cys)
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu) rs150931608
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe) rs200888890
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu) rs1302199988
NM_000393.5(COL5A2):c.4187A>G (p.Glu1396Gly) rs2469209657
NM_000393.5(COL5A2):c.4189G>A (p.Ala1397Thr) rs2469209654
NM_000393.5(COL5A2):c.4190C>G (p.Ala1397Gly)
NM_000393.5(COL5A2):c.419A>C (p.Gln140Pro)
NM_000393.5(COL5A2):c.4207T>A (p.Tyr1403Asn) rs2469209574
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile) rs2469209547
NM_000393.5(COL5A2):c.4282G>A (p.Ala1428Thr)
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val) rs2469209328
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly) rs141777954
NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe) rs1685413023
NM_000393.5(COL5A2):c.4372G>A (p.Gly1458Ser)
NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile) rs1266828570
NM_000393.5(COL5A2):c.437G>C (p.Arg146Pro) rs144430633
NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly) rs1685396293
NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg) rs2469207250
NM_000393.5(COL5A2):c.4404dup (p.Val1469fs)
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly) rs2153505892
NM_000393.5(COL5A2):c.4462G>A (p.Glu1488Lys)
NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp) rs2469206813
NM_000393.5(COL5A2):c.456+3A>C rs1686938255
NM_000393.5(COL5A2):c.470C>T (p.Pro157Leu) rs144754622
NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala) rs1686807213
NM_000393.5(COL5A2):c.479T>C (p.Ile160Thr) rs1177082898
NM_000393.5(COL5A2):c.500C>A (p.Pro167His) rs2469376592
NM_000393.5(COL5A2):c.509C>T (p.Pro170Leu)
NM_000393.5(COL5A2):c.534T>A (p.His178Gln) rs1353353174
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe) rs2105831569
NM_000393.5(COL5A2):c.567+3G>A rs2469376212
NM_000393.5(COL5A2):c.568-11C>A
NM_000393.5(COL5A2):c.568-12T>C
NM_000393.5(COL5A2):c.569C>A (p.Pro190Gln)
NM_000393.5(COL5A2):c.590G>T (p.Gly197Val)
NM_000393.5(COL5A2):c.622G>A (p.Val208Ile) rs2105658300
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu) rs1686718032
NM_000393.5(COL5A2):c.645+5G>A rs2469366129
NM_000393.5(COL5A2):c.647G>A (p.Gly216Asp)
NM_000393.5(COL5A2):c.649C>T (p.Pro217Ser)
NM_000393.5(COL5A2):c.652G>A (p.Val218Ile)
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln) rs201941612
NM_000393.5(COL5A2):c.686A>G (p.Gln229Arg) rs1686671999
NM_000393.5(COL5A2):c.690A>G (p.Gln230=) rs2469359808
NM_000393.5(COL5A2):c.724C>T (p.Pro242Ser) rs2105650411
NM_000393.5(COL5A2):c.727G>C (p.Gly243Arg) rs2469357063
NM_000393.5(COL5A2):c.731A>C (p.Asp244Ala) rs2469357046
NM_000393.5(COL5A2):c.731A>G (p.Asp244Gly)
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln) rs1688743702
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr) rs1686643340
NM_000393.5(COL5A2):c.752T>C (p.Ile251Thr)
NM_000393.5(COL5A2):c.798+6C>T rs766997568
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg) rs2469352465
NM_000393.5(COL5A2):c.830A>G (p.Glu277Gly)
NM_000393.5(COL5A2):c.853-3C>G rs2469345443
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser) rs1482551069
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser) rs1686522348
NM_000393.5(COL5A2):c.898G>A (p.Gly300Ser)
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro) rs545574407
NM_000393.5(COL5A2):c.905G>T (p.Arg302Leu) rs545574407
NM_000393.5(COL5A2):c.917G>C (p.Gly306Ala) rs1477771143
NM_000393.5(COL5A2):c.926G>A (p.Gly309Asp) rs2469342915
NM_000393.5(COL5A2):c.928C>A (p.Pro310Thr) rs2469342905
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.5(COL5A2):c.967G>C (p.Ala323Pro) rs2105632778
NM_000393.5(COL5A2):c.98-22_98-18del rs1193599786
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu) rs1686476730

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