ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 561
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000393.5(COL5A2):c.*848T>C rs72902303 0.00076
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000393.5(COL5A2):c.*904A>C rs778818824 0.00038
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000393.5(COL5A2):c.1923+8T>C rs191193125 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.322+8T>C rs372227642 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_000393.4(COL5A2):c.-176T>A rs570350400 0.00021
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 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.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 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.*126A>G rs755412373 0.00009
NM_000393.5(COL5A2):c.*1961T>C rs886055346 0.00007
NM_000393.5(COL5A2):c.*401A>C rs886055352 0.00007
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 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.437G>A (p.Arg146Gln) rs144430633 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.3201+14C>T rs368713290 0.00005
NM_000393.5(COL5A2):c.*211T>A rs776264833 0.00004
NM_000393.5(COL5A2):c.3310-3T>A rs752705717 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 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.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val) rs370121305 0.00003
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743 0.00003
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser) rs773726323 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132 0.00003
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317 0.00003
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys) rs747946828 0.00003
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn) rs750574093 0.00003
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064 0.00003
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593 0.00003
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673 0.00003
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511 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.697G>A (p.Ala233Thr) rs148005959 0.00003
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415 0.00002
NM_000393.5(COL5A2):c.1564-8A>T rs776187028 0.00002
NM_000393.5(COL5A2):c.1618-7G>A rs77456219 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.1717-3C>T rs760304144 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.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg) rs1286805423 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.3040-8T>C rs886055355 0.00002
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303 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.906+10A>T rs776578452 0.00002
NM_000393.5(COL5A2):c.*1460A>T rs886055349 0.00001
NM_000393.5(COL5A2):c.*1970T>G rs548360577 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.1246C>G (p.Pro416Ala) rs1412825331 0.00001
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049 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.1458G>A (p.Gly486=) rs144540534 0.00001
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441 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.1636G>A (p.Gly546Ser) rs369506320 0.00001
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149 0.00001
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 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.1765C>T (p.Pro589Ser) rs544303636 0.00001
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505 0.00001
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=) rs140541824 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.2008C>A (p.Pro670Thr) rs904166744 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.2130A>G (p.Arg710=) rs1451386429 0.00001
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220 0.00001
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala) rs753363765 0.00001
NM_000393.5(COL5A2):c.2338-10G>A rs1017894646 0.00001
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752 0.00001
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2486C>T (p.Ser829Phe) rs771633594 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp) rs746155819 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 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.2831G>A (p.Arg944His) rs761988412 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.2968G>A (p.Gly990Arg) rs1040238147 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.3200G>A (p.Arg1067His) rs780705330 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.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442 0.00001
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354 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.3633+12A>G rs886055353 0.00001
NM_000393.5(COL5A2):c.3633+14G>T rs776087725 0.00001
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546 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.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn) rs1194645204 0.00001
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg) rs138900123 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.4238A>G (p.Asp1413Gly) rs1685415466 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.4324C>T (p.Arg1442Trp) rs146982082 0.00001
NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val) rs1163031439 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.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.799-7C>A rs879227018 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.911A>G (p.His304Arg) rs1576513195 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.*1465G>T rs886055348
NM_000393.5(COL5A2):c.*1668C>G rs772852972
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1894C>A rs886055347
NM_000393.5(COL5A2):c.*590dup rs200554257
NM_000393.5(COL5A2):c.*694TA[1] rs886055351
NM_000393.5(COL5A2):c.*716A>G rs886055350
NM_000393.5(COL5A2):c.1005+5G>T rs752557532
NM_000393.5(COL5A2):c.1006-9C>G rs73978832
NM_000393.5(COL5A2):c.1010C>A (p.Pro337Gln) rs766349082
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
NM_000393.5(COL5A2):c.1045C>T (p.Pro349Ser)
NM_000393.5(COL5A2):c.1059+6T>C
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His)
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu) rs776312058
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala)
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1126T>C (p.Ser376Pro)
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu) rs1576507871
NM_000393.5(COL5A2):c.1158+3A>G
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)
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala)
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu)
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly) rs1686209467
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val)
NM_000393.5(COL5A2):c.1229C>T (p.Pro410Leu)
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala) rs1430271322
NM_000393.5(COL5A2):c.1244C>T (p.Ser415Phe)
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)
NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys) rs145850743
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser)
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
NM_000393.5(COL5A2):c.1310_1311inv (p.Pro437Leu)
NM_000393.5(COL5A2):c.131A>C (p.Asn44Thr)
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del) rs1686191596
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.5(COL5A2):c.1360C>T (p.Pro454Ser) rs1686191057
NM_000393.5(COL5A2):c.1361C>T (p.Pro454Leu)
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly) rs1686190878
NM_000393.5(COL5A2):c.136C>G (p.Gln46Glu)
NM_000393.5(COL5A2):c.1372A>T (p.Thr458Ser)
NM_000393.5(COL5A2):c.1379C>T (p.Pro460Leu) rs2105603424
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.1402-3C>T
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile)
NM_000393.5(COL5A2):c.1442C>T (p.Pro481Leu)
NM_000393.5(COL5A2):c.1451A>C (p.Glu484Ala)
NM_000393.5(COL5A2):c.1453C>A (p.Pro485Thr)
NM_000393.5(COL5A2):c.1453C>G (p.Pro485Ala)
NM_000393.5(COL5A2):c.1455+6del rs763475800
NM_000393.5(COL5A2):c.1456-3C>G
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg)
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro) rs149305351
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp)
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln)
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu)
NM_000393.5(COL5A2):c.1541C>T (p.Pro514Leu)
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu) rs371125581
NM_000393.5(COL5A2):c.1561A>G (p.Arg521Gly)
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His) rs1260469713
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)
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr)
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
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)
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly)
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro) rs760408439
NM_000393.5(COL5A2):c.1716+13C>T
NM_000393.5(COL5A2):c.1718G>T (p.Gly573Val)
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+4A>G
NM_000393.5(COL5A2):c.1770+6T>C rs1686089547
NM_000393.5(COL5A2):c.1770G>A (p.Leu590=)
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val) rs145169816
NM_000393.5(COL5A2):c.1787A>T (p.Asp596Val) rs768939237
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1798_1800dup (p.Gly600_Pro601insGly)
NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val) rs2105590990
NM_000393.5(COL5A2):c.17C>A (p.Ala6Glu)
NM_000393.5(COL5A2):c.1801C>A (p.Pro601Thr)
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val) rs2105590952
NM_000393.5(COL5A2):c.181A>G (p.Ile61Val)
NM_000393.5(COL5A2):c.182TCTGTG[1] (p.Val63_Cys64del) rs1687236750
NM_000393.5(COL5A2):c.1830G>T (p.Gln610His)
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala) rs1438423994
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)
NM_000393.5(COL5A2):c.1865G>A (p.Ser622Asn)
NM_000393.5(COL5A2):c.1868G>A (p.Ser623Asn) rs2105590768
NM_000393.5(COL5A2):c.1869+3G>A
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu)
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr)
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser)
NM_000393.5(COL5A2):c.1924-17T>C
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys)
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.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.1978-6A>G
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val)
NM_000393.5(COL5A2):c.2031+6C>T rs1686033754
NM_000393.5(COL5A2):c.2032-3T>C
NM_000393.5(COL5A2):c.2032-3T>G
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu) rs1019506931
NM_000393.5(COL5A2):c.2062G>A (p.Glu688Lys)
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.2092C>A (p.Pro698Thr) rs146005731
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr)
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr)
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser)
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg)
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
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)
NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr)
NM_000393.5(COL5A2):c.2281C>G (p.Gln761Glu)
NM_000393.5(COL5A2):c.2295A>G (p.Gly765=)
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg) rs1357408674
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly) rs1032000194
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2345T>A (p.Ile782Lys) rs1198104925
NM_000393.5(COL5A2):c.235G>A (p.Val79Met)
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr)
NM_000393.5(COL5A2):c.2389A>G (p.Arg797Gly) rs2105573986
NM_000393.5(COL5A2):c.2393G>T (p.Gly798Val)
NM_000393.5(COL5A2):c.2404C>A (p.Pro802Thr)
NM_000393.5(COL5A2):c.241G>A (p.Asp81Asn)
NM_000393.5(COL5A2):c.2429G>T (p.Gly810Val)
NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr)
NM_000393.5(COL5A2):c.2434A>C (p.Thr812Pro)
NM_000393.5(COL5A2):c.2446-13A>G
NM_000393.5(COL5A2):c.2446-35_2446-9del rs2105566377
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.2499+6T>G
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln) rs751683516
NM_000393.5(COL5A2):c.2512G>A (p.Glu838Lys)
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)
NM_000393.5(COL5A2):c.2545G>A (p.Gly849Arg) rs368239207
NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg)
NM_000393.5(COL5A2):c.2553+5A>T rs371072906
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.2570C>T (p.Pro857Leu) rs938162476
NM_000393.5(COL5A2):c.2584G>A (p.Glu862Lys) rs1685823479
NM_000393.5(COL5A2):c.2587C>A (p.Pro863Thr)
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu) rs143261719
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro) rs1687234505
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
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)
NM_000393.5(COL5A2):c.2653G>A (p.Gly885Ser)
NM_000393.5(COL5A2):c.2661+17_2661+20delinsCTTGAGTCAAGTTAA
NM_000393.5(COL5A2):c.2661T>C (p.His887=)
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp)
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg) rs2105563064
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln)
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)
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu) rs747843876
NM_000393.5(COL5A2):c.2789G>A (p.Gly930Glu)
NM_000393.5(COL5A2):c.2789G>T (p.Gly930Val)
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)
NM_000393.5(COL5A2):c.281C>T (p.Pro94Leu)
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.2851G>A (p.Gly951Arg)
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.2884C>T (p.Pro962Ser)
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr)
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr) rs1457897938
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val)
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg)
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser) rs1576494351
NM_000393.5(COL5A2):c.2931+5G>T
NM_000393.5(COL5A2):c.2932G>C (p.Gly978Arg) rs2153508067
NM_000393.5(COL5A2):c.2941G>A (p.Gly981Ser) rs2153508066
NM_000393.5(COL5A2):c.2945C>A (p.Pro982His)
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg) rs1576493931
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=) rs1685766586
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.2980A>T (p.Ile994Phe)
NM_000393.5(COL5A2):c.2983G>C (p.Val995Leu)
NM_000393.5(COL5A2):c.3001C>G (p.Arg1001Gly)
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3035C>A (p.Pro1012Gln)
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val)
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile)
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.3103G>A (p.Gly1035Arg) rs1685735868
NM_000393.5(COL5A2):c.3122G>A (p.Gly1041Asp)
NM_000393.5(COL5A2):c.3127G>A (p.Val1043Ile) rs1186405696
NM_000393.5(COL5A2):c.3136C>A (p.Pro1046Thr)
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln) rs1685734191
NM_000393.5(COL5A2):c.3147+5_3147+16del
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser) rs2153507740
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)
NM_000393.5(COL5A2):c.3179G>C (p.Arg1060Pro)
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile) rs1576577162
NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn)
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp)
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val)
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser)
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr)
NM_000393.5(COL5A2):c.3278C>A (p.Ala1093Asp)
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg) rs1576490680
NM_000393.5(COL5A2):c.3295C>G (p.Gln1099Glu)
NM_000393.5(COL5A2):c.3309+6G>A rs775681859
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
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)
NM_000393.5(COL5A2):c.3334C>T (p.Pro1112Ser)
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val) rs981465775
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
NM_000393.5(COL5A2):c.3347G>A (p.Gly1116Glu)
NM_000393.5(COL5A2):c.336+3A>T rs762140704
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg)
NM_000393.5(COL5A2):c.3373G>C (p.Gly1125Arg)
NM_000393.5(COL5A2):c.3380G>A (p.Arg1127His)
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3394G>A (p.Asp1132Asn)
NM_000393.5(COL5A2):c.3395A>G (p.Asp1132Gly)
NM_000393.5(COL5A2):c.3399T>C (p.His1133=)
NM_000393.5(COL5A2):c.3428G>A (p.Gly1143Asp) rs1685595072
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn) rs2105690115
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala)
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
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)
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg)
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)
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)
NM_000393.5(COL5A2):c.3631G>A (p.Glu1211Lys)
NM_000393.5(COL5A2):c.3634-3T>C
NM_000393.5(COL5A2):c.3634G>C (p.Gly1212Arg)
NM_000393.5(COL5A2):c.3635G>A (p.Gly1212Asp)
NM_000393.5(COL5A2):c.3641C>A (p.Pro1214His)
NM_000393.5(COL5A2):c.3656C>A (p.Pro1219Gln)
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu) rs1685515304
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala)
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr)
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro) rs1263127952
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val) rs1685513453
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg)
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr) rs145100971
NM_000393.5(COL5A2):c.3736G>A (p.Asp1246Asn)
NM_000393.5(COL5A2):c.3743T>C (p.Leu1248Pro) rs2153506518
NM_000393.5(COL5A2):c.3748G>A (p.Glu1250Lys)
NM_000393.5(COL5A2):c.3766G>A (p.Ala1256Thr)
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu)
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu) rs1064795177
NM_000393.5(COL5A2):c.3800G>T (p.Gly1267Val)
NM_000393.5(COL5A2):c.3802G>T (p.Val1268Phe)
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
NM_000393.5(COL5A2):c.3847C>T (p.Arg1283Cys)
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val)
NM_000393.5(COL5A2):c.3926-3T>C rs1685452266
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu)
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys) rs2153506166
NM_000393.5(COL5A2):c.3950A>G (p.Gln1317Arg) rs2153506165
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu) rs1685452114
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro)
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu) rs1685449943
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu) rs771590535
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr) rs1157866285
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)
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
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.4114-20A>G rs1057523545
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr) rs1685418656
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg)
NM_000393.5(COL5A2):c.4154C>T (p.Thr1385Ile)
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile) rs1424971937
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe)
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)
NM_000393.5(COL5A2):c.4185A>G (p.Lys1395=)
NM_000393.5(COL5A2):c.4187A>G (p.Glu1396Gly)
NM_000393.5(COL5A2):c.4189G>A (p.Ala1397Thr)
NM_000393.5(COL5A2):c.4207T>A (p.Tyr1403Asn)
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly) rs1685415940
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile)
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly) rs141777954
NM_000393.5(COL5A2):c.429A>G (p.Arg143=) rs1488001302
NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe)
NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile)
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)
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly) rs2153505892
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser) rs775322653
NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)
NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)
NM_000393.5(COL5A2):c.456+3A>C
NM_000393.5(COL5A2):c.457-12C>T rs1387666560
NM_000393.5(COL5A2):c.470C>T (p.Pro157Leu)
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)
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr) rs886055358
NM_000393.5(COL5A2):c.534T>A (p.His178Gln)
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe) rs2105831569
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000393.5(COL5A2):c.567+3G>A
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.622G>A (p.Val208Ile) rs2105658300
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu) rs1686718032
NM_000393.5(COL5A2):c.645+5G>A
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu) rs201941612
NM_000393.5(COL5A2):c.686A>G (p.Gln229Arg) rs1686671999
NM_000393.5(COL5A2):c.690A>G (p.Gln230=)
NM_000393.5(COL5A2):c.724C>T (p.Pro242Ser) rs2105650411
NM_000393.5(COL5A2):c.727G>C (p.Gly243Arg)
NM_000393.5(COL5A2):c.731A>C (p.Asp244Ala)
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.744+7G>A rs774993105
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.798+6C>T
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg)
NM_000393.5(COL5A2):c.853-3C>G
NM_000393.5(COL5A2):c.860G>A (p.Arg287His)
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser)
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser) rs1686522348
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)
NM_000393.5(COL5A2):c.926G>A (p.Gly309Asp)
NM_000393.5(COL5A2):c.928C>A (p.Pro310Thr)
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
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
Single allele

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