ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, vascular type by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 567
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000090.4(COL3A1):c.2229+6G>A rs10186160 0.00015
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422 0.00015
NM_000090.4(COL3A1):c.1347+6T>C rs373343032 0.00011
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.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.528+4C>T rs528758308 0.00009
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
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.1586T>C (p.Val529Ala) rs201980471 0.00006
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu) rs139610730 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.1235C>A (p.Ala412Asp) rs1057519250 0.00005
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln) rs200446048 0.00005
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr) rs372329498 0.00004
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.4075C>A (p.Leu1359Ile) rs1400489265 0.00004
NM_000090.4(COL3A1):c.4159A>G (p.Lys1387Glu) rs145138575 0.00004
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp) rs760482912 0.00004
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp) rs757062073 0.00004
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
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.2125G>T (p.Ala709Ser) rs201468881 0.00003
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr) rs776814693 0.00003
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser) rs759565407 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.1234G>T (p.Ala412Ser) rs768314657 0.00002
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.1873C>T (p.Pro625Ser) rs747419192 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.2110G>A (p.Glu704Lys) rs863223362 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.3497G>A (p.Arg1166Gln) rs369494336 0.00002
NM_000090.4(COL3A1):c.3574G>A (p.Ala1192Thr) rs141587182 0.00002
NM_000090.4(COL3A1):c.3629G>A (p.Gly1210Asp) rs749543804 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.4011+3A>G rs112254545 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.1004C>A (p.Pro335His) rs1688217356 0.00001
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala) rs574831241 0.00001
NM_000090.4(COL3A1):c.1103G>A (p.Arg368Lys) rs781216305 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.113C>A (p.Ser38Tyr) rs755509578 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.1288G>A (p.Gly430Ser) rs1688253514 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.1480G>A (p.Ala494Thr) rs200866608 0.00001
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912 0.00001
NM_000090.4(COL3A1):c.14T>A (p.Val5Glu) rs751315184 0.00001
NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser) rs138166497 0.00001
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335 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.1813C>G (p.Gln605Glu) rs764299277 0.00001
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala) rs376525602 0.00001
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774 0.00001
NM_000090.4(COL3A1):c.1869+6T>G rs730880063 0.00001
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu) rs902780774 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.2074C>A (p.Pro692Thr) rs1160258883 0.00001
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=) rs541557925 0.00001
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711 0.00001
NM_000090.4(COL3A1):c.2290A>G (p.Thr764Ala) rs775003113 0.00001
NM_000090.4(COL3A1):c.2317G>T (p.Ala773Ser) rs1170068141 0.00001
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val) rs370292679 0.00001
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser) rs755676319 0.00001
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu) rs943287668 0.00001
NM_000090.4(COL3A1):c.2539G>A (p.Gly847Ser) rs1688502787 0.00001
NM_000090.4(COL3A1):c.2554-4A>G rs543263157 0.00001
NM_000090.4(COL3A1):c.2567C>T (p.Pro856Leu) rs1688514900 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 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.275C>T (p.Pro92Leu) rs368889070 0.00001
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn) rs929526823 0.00001
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser) rs761447734 0.00001
NM_000090.4(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025 0.00001
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu) rs780260944 0.00001
NM_000090.4(COL3A1):c.2962C>T (p.Leu988Phe) rs978290107 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.3092A>G (p.Lys1031Arg) rs749725146 0.00001
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206 0.00001
NM_000090.4(COL3A1):c.3100C>T (p.Arg1034Cys) rs1178112512 0.00001
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) rs780788248 0.00001
NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu) rs762567565 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.3417+6T>C rs1201578152 0.00001
NM_000090.4(COL3A1):c.3418-5C>A rs377392671 0.00001
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870 0.00001
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062 0.00001
NM_000090.4(COL3A1):c.3583C>T (p.Pro1195Ser) rs137912293 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.3637G>T (p.Ala1213Ser) rs1427744978 0.00001
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser) rs767577382 0.00001
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys) rs1190691997 0.00001
NM_000090.4(COL3A1):c.3712C>T (p.Leu1238Phe) rs1688662674 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.3847C>G (p.Gln1283Glu) rs587779467 0.00001
NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile) rs1688692242 0.00001
NM_000090.4(COL3A1):c.3934C>T (p.Arg1312Trp) rs794728056 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.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.4220A>C (p.Lys1407Thr) rs747651283 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 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.4340A>G (p.Tyr1447Cys) rs1407784923 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.586T>C (p.Ser196Pro) rs751350498 0.00001
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser) rs1325737333 0.00001
NM_000090.4(COL3A1):c.690+3A>G rs1447080385 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.752A>G (p.Lys251Arg) rs151148197 0.00001
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser) rs1688161034 0.00001
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser) rs1318892403 0.00001
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val) rs1016767830 0.00001
NM_000090.4(COL3A1):c.897+4A>G rs886039191 0.00001
NM_000090.4(COL3A1):c.898-14A>G rs763316592 0.00001
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg) rs1273313377 0.00001
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) rs1229792348 0.00001
NC_000002.11:g.(?_189849903)_(189957166_?)dup
NC_000002.11:g.(?_189860831)_(189861242_?)dup
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
NM_000090.4(COL3A1):c.1013C>T (p.Pro338Leu) rs2153502229
NM_000090.4(COL3A1):c.1029C>G (p.Phe343Leu) rs1688218053
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile) rs368703012
NM_000090.4(COL3A1):c.1064C>A (p.Pro355His)
NM_000090.4(COL3A1):c.1072T>C (p.Ser358Pro)
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser)
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg) rs1464219199
NM_000090.4(COL3A1):c.1103G>C (p.Arg368Thr)
NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.4(COL3A1):c.111G>C (p.Gln37His) rs2153501346
NM_000090.4(COL3A1):c.1128C>A (p.His376Gln)
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.1154C>T (p.Pro385Leu)
NM_000090.4(COL3A1):c.1195-13G>A
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.121G>A (p.Asp41Asn) rs794728035
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val) rs1026603456
NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp)
NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser)
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.4(COL3A1):c.1316C>T (p.Ala439Val)
NM_000090.4(COL3A1):c.1336C>T (p.Arg446Cys) rs1238066761
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)
NM_000090.4(COL3A1):c.1347C>G (p.Arg449=)
NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser)
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys) rs2153502439
NM_000090.4(COL3A1):c.1389A>C (p.Glu463Asp)
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser) rs1425504057
NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp)
NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys)
NM_000090.4(COL3A1):c.1455+5G>A rs774425143
NM_000090.4(COL3A1):c.1486C>T (p.Pro496Ser)
NM_000090.4(COL3A1):c.149G>C (p.Cys50Ser)
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr) rs926106259
NM_000090.4(COL3A1):c.1531G>C (p.Ala511Pro)
NM_000090.4(COL3A1):c.1541C>A (p.Pro514His)
NM_000090.4(COL3A1):c.1550C>A (p.Pro517His) rs142085247
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg) rs142085247
NM_000090.4(COL3A1):c.156A>G (p.Ile52Met)
NM_000090.4(COL3A1):c.1608+6G>C rs1688293957
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg) rs868705044
NM_000090.4(COL3A1):c.1658C>T (p.Pro553Leu) rs1330285574
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu) rs1688305869
NM_000090.4(COL3A1):c.1662+4T>C rs1319321003
NM_000090.4(COL3A1):c.1662+4T>G rs1319321003
NM_000090.4(COL3A1):c.1662C>G (p.Pro554=) rs373963384
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn) rs1688319466
NM_000090.4(COL3A1):c.1667G>T (p.Ser556Ile)
NM_000090.4(COL3A1):c.166G>A (p.Asp56Asn)
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
NM_000090.4(COL3A1):c.1706C>G (p.Ser569Cys)
NM_000090.4(COL3A1):c.1762-3T>C
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr) rs1327158014
NM_000090.4(COL3A1):c.1778A>T (p.Asn593Ile)
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala) rs35795890
NM_000090.4(COL3A1):c.1815+6T>C rs1688347657
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.4(COL3A1):c.1840A>G (p.Thr614Ala)
NM_000090.4(COL3A1):c.1865C>T (p.Pro622Leu)
NM_000090.4(COL3A1):c.1869+3A>C rs1576467168
NM_000090.4(COL3A1):c.1873C>G (p.Pro625Ala)
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn) rs1688031625
NM_000090.4(COL3A1):c.1891G>A (p.Asp631Asn) rs1688361531
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys) rs769039976
NM_000090.4(COL3A1):c.18A>C (p.Gln6His)
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser) rs762129273
NM_000090.4(COL3A1):c.1924-13_1924-2del
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val) rs1440480352
NM_000090.4(COL3A1):c.1967C>G (p.Pro656Arg)
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) rs2153501357
NM_000090.4(COL3A1):c.1977+5G>C rs1553508544
NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser) rs1688385247
NM_000090.4(COL3A1):c.1A>T (p.Met1Leu) rs1687765120
NM_000090.4(COL3A1):c.2021A>G (p.Lys674Arg)
NM_000090.4(COL3A1):c.2022+4G>A rs886038865
NM_000090.4(COL3A1):c.2030C>G (p.Ala677Gly) rs2153502991
NM_000090.4(COL3A1):c.2053C>T (p.Pro685Ser)
NM_000090.4(COL3A1):c.2079A>T (p.Gly693=)
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
NM_000090.4(COL3A1):c.2098C>A (p.Pro700Thr)
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser) rs1261828944
NM_000090.4(COL3A1):c.2101C>G (p.Pro701Ala) rs762687549
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu) rs1688401669
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu) rs1688402397
NM_000090.4(COL3A1):c.2121+4del rs1688402573
NM_000090.4(COL3A1):c.2122-11C>G
NM_000090.4(COL3A1):c.2126C>A (p.Ala709Asp)
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.2153C>T (p.Ala718Val)
NM_000090.4(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
NM_000090.4(COL3A1):c.2224G>T (p.Asp742Tyr)
NM_000090.4(COL3A1):c.2226C>A (p.Asp742Glu)
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
NM_000090.4(COL3A1):c.2236C>T (p.Pro746Ser)
NM_000090.4(COL3A1):c.2255A>G (p.Asp752Gly)
NM_000090.4(COL3A1):c.2261T>A (p.Val754Asp) rs200390941
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly) rs2153503070
NM_000090.4(COL3A1):c.2283+5G>A
NM_000090.4(COL3A1):c.2299A>G (p.Ile767Val)
NM_000090.4(COL3A1):c.2299A>T (p.Ile767Phe)
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser) rs1688032952
NM_000090.4(COL3A1):c.22G>A (p.Gly8Arg) rs1687765852
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp) rs370292679
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser) rs749803388
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr) rs1179918994
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His) rs1332613006
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu) rs2153500011
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser) rs1576460785
NM_000090.4(COL3A1):c.2445+5G>A rs587779636
NM_000090.4(COL3A1):c.2446-15T>A
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe) rs1688502124
NM_000090.4(COL3A1):c.2522T>C (p.Val841Ala) rs1466306398
NM_000090.4(COL3A1):c.2525C>T (p.Ala842Val)
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala) rs780490668
NM_000090.4(COL3A1):c.253T>C (p.Cys85Arg)
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile)
NM_000090.4(COL3A1):c.257C>T (p.Ala86Val)
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) rs755762264
NM_000090.4(COL3A1):c.2593A>G (p.Ser865Gly)
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.2623C>T (p.Pro875Ser) rs761222859
NM_000090.4(COL3A1):c.2633G>T (p.Arg878Leu) rs1419949637
NM_000090.4(COL3A1):c.2647_2655dup (p.Gly885_Ser886insProProGly)
NM_000090.4(COL3A1):c.2661T>C (p.Asn887=) rs1306865410
NM_000090.4(COL3A1):c.2668C>G (p.Pro890Ala) rs794728053
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu) rs1447793042
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg) rs1455100373
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu)
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.2784A>C (p.Gln928His) rs2153503501
NM_000090.4(COL3A1):c.278C>A (p.Thr93Asn) rs2153501376
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.4(COL3A1):c.2867G>T (p.Arg956Leu)
NM_000090.4(COL3A1):c.2876C>T (p.Ala959Val) rs2153503530
NM_000090.4(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
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.2927T>C (p.Val976Ala) rs886038939
NM_000090.4(COL3A1):c.2931+3G>C
NM_000090.4(COL3A1):c.2958_2959insCGT (p.Asn986_Gly987insArg)
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.2981C>A (p.Pro994His) rs1688563132
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu) rs1688563132
NM_000090.4(COL3A1):c.2983C>T (p.Pro995Ser) rs1421131137
NM_000090.4(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.4(COL3A1):c.2993A>G (p.Gln998Arg) rs139859476
NM_000090.4(COL3A1):c.2993A>T (p.Gln998Leu) rs139859476
NM_000090.4(COL3A1):c.301G>T (p.Gly101Cys)
NM_000090.4(COL3A1):c.3025G>C (p.Glu1009Gln)
NM_000090.4(COL3A1):c.3028C>T (p.Pro1010Ser)
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
NM_000090.4(COL3A1):c.3040-3C>G rs2153503706
NM_000090.4(COL3A1):c.3065C>T (p.Pro1022Leu)
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala)
NM_000090.4(COL3A1):c.3082C>T (p.Pro1028Ser) rs2153503710
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
NM_000090.4(COL3A1):c.3093+3A>C rs771429937
NM_000090.4(COL3A1):c.3093+5A>G rs1688583785
NM_000090.4(COL3A1):c.3093G>A (p.Lys1031=) rs1688583589
NM_000090.4(COL3A1):c.3119C>T (p.Pro1040Leu)
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser) rs2153503729
NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser) rs1576471847
NM_000090.4(COL3A1):c.3170C>G (p.Pro1057Arg) rs1576471860
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.4(COL3A1):c.3204CCCTGCTGG[3] (p.1069PAG[3]) rs771791598
NM_000090.4(COL3A1):c.3209C>G (p.Ala1070Gly)
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser) rs1688598580
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg)
NM_000090.4(COL3A1):c.3256-43T>G rs587779667
NM_000090.4(COL3A1):c.3259C>T (p.Pro1087Ser) rs1688619897
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu) rs576166457
NM_000090.4(COL3A1):c.3277G>A (p.Asp1093Asn) rs2153503891
NM_000090.4(COL3A1):c.3314T>G (p.Ile1105Ser)
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr)
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg) rs1688621770
NM_000090.4(COL3A1):c.333+4A>G rs1688041454
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu) rs1376067428
NM_000090.4(COL3A1):c.334-3T>C rs2153501467
NM_000090.4(COL3A1):c.3353C>T (p.Pro1118Leu)
NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp)
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser) rs1688630479
NM_000090.4(COL3A1):c.3381G>T (p.Gln1127His)
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val) rs1688631496
NM_000090.4(COL3A1):c.3412C>T (p.Pro1138Ser)
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys) rs964468427
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser) rs1287518692
NM_000090.4(COL3A1):c.3451G>A (p.Asp1151Asn) rs1688635701
NM_000090.4(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup) rs1576472935
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu) rs1378423439
NM_000090.4(COL3A1):c.347T>C (p.Ile116Thr)
NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro)
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr) rs1559052973
NM_000090.4(COL3A1):c.350C>T (p.Pro117Leu)
NM_000090.4(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.4(COL3A1):c.3523G>A (p.Glu1175Lys) rs1688638293
NM_000090.4(COL3A1):c.3524A>C (p.Glu1175Ala) rs2153503986
NM_000090.4(COL3A1):c.3529T>A (p.Ser1177Thr) rs1006132401
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln) rs2153504073
NM_000090.4(COL3A1):c.3538C>T (p.His1180Tyr)
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser) rs2153504076
NM_000090.4(COL3A1):c.3560C>A (p.Pro1187His)
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser) rs1324996402
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser) rs2153504081
NM_000090.4(COL3A1):c.3592G>A (p.Gly1198Ser)
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr) rs1270244946
NM_000090.4(COL3A1):c.3616G>T (p.Ala1206Ser) rs2153504088
NM_000090.4(COL3A1):c.3619G>A (p.Gly1207Arg)
NM_000090.4(COL3A1):c.3640G>A (p.Gly1214Ser)
NM_000090.4(COL3A1):c.3656A>G (p.Tyr1219Cys)
NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His)
NM_000090.4(COL3A1):c.3695A>G (p.Asp1232Gly)
NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys)
NM_000090.4(COL3A1):c.3710C>T (p.Ser1237Leu)
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
NM_000090.4(COL3A1):c.3749G>A (p.Ser1250Asn)
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu)
NM_000090.4(COL3A1):c.3756T>G (p.Asp1252Glu)
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.3806A>G (p.His1269Arg) rs751092650
NM_000090.4(COL3A1):c.380G>A (p.Gly127Glu) rs2153501474
NM_000090.4(COL3A1):c.3823+4T>C
NM_000090.4(COL3A1):c.3839A>C (p.Asp1280Ala) rs2153504230
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala) rs759132286
NM_000090.4(COL3A1):c.3850G>A (p.Gly1284Arg)
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu) rs757734757
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr) rs1688690716
NM_000090.4(COL3A1):c.3885T>A (p.Asn1295Lys)
NM_000090.4(COL3A1):c.3885T>G (p.Asn1295Lys)
NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr)
NM_000090.4(COL3A1):c.3890A>C (p.Glu1297Ala)
NM_000090.4(COL3A1):c.3907A>T (p.Ile1303Leu)
NM_000090.4(COL3A1):c.3911G>C (p.Ser1304Thr)
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser) rs1688691968
NM_000090.4(COL3A1):c.3914C>G (p.Ala1305Gly) rs1060500197
NM_000090.4(COL3A1):c.3926A>G (p.Asn1309Ser) rs1060500201
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu) rs886038983
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn) rs2153504249
NM_000090.4(COL3A1):c.3971A>G (p.Lys1324Arg) rs2153504251
NM_000090.4(COL3A1):c.3985G>C (p.Gly1329Arg)
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr) rs1688694132
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.4(COL3A1):c.4001G>T (p.Gly1334Val)
NM_000090.4(COL3A1):c.4007T>G (p.Phe1336Cys)
NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His)
NM_000090.4(COL3A1):c.4015A>G (p.Ser1339Gly)
NM_000090.4(COL3A1):c.4017C>G (p.Ser1339Arg)
NM_000090.4(COL3A1):c.401C>T (p.Ser134Phe)
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly) rs1688703417
NM_000090.4(COL3A1):c.4046T>G (p.Val1349Gly)
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val) rs945183835
NM_000090.4(COL3A1):c.4078C>A (p.Leu1360Ile)
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln) rs1227282800
NM_000090.4(COL3A1):c.4097A>G (p.Gln1366Arg)
NM_000090.4(COL3A1):c.409C>A (p.Pro137Thr) rs1553506950
NM_000090.4(COL3A1):c.409C>T (p.Pro137Ser)
NM_000090.4(COL3A1):c.4102A>G (p.Ile1368Val) rs2153504325
NM_000090.4(COL3A1):c.4108T>C (p.Tyr1370His) rs2153504327
NM_000090.4(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His) rs1029608155
NM_000090.4(COL3A1):c.4148G>A (p.Ser1383Asn)
NM_000090.4(COL3A1):c.4151G>A (p.Gly1384Glu)
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) rs1158116878
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys) rs768168922
NM_000090.4(COL3A1):c.4205C>A (p.Ala1402Asp) rs1688708521
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu) rs549672243
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.4255-1G>T rs1688728266
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn) rs754723643
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.4283T>C (p.Val1428Ala)
NM_000090.4(COL3A1):c.4290A>C (p.Glu1430Asp)
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln) rs772428340
NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile)
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) rs148015311
NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.4(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.4(COL3A1):c.4334C>A (p.Ala1445Glu)
NM_000090.4(COL3A1):c.4351G>C (p.Gly1451Arg) rs1688731786
NM_000090.4(COL3A1):c.436A>G (p.Thr146Ala)
NM_000090.4(COL3A1):c.4370G>A (p.Gly1457Asp) rs1688732362
NM_000090.4(COL3A1):c.4373T>G (p.Val1458Gly)
NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val) rs1576474944
NM_000090.4(COL3A1):c.4394T>C (p.Phe1465Ser) rs1553510018
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
NM_000090.4(COL3A1):c.443C>T (p.Pro148Leu)
NM_000090.4(COL3A1):c.447+14G>A
NM_000090.4(COL3A1):c.447G>A (p.Gln149=)
NM_000090.4(COL3A1):c.469T>A (p.Ser157Thr) rs1576461726
NM_000090.4(COL3A1):c.473A>G (p.Tyr158Cys) rs2153501637
NM_000090.4(COL3A1):c.488G>T (p.Gly163Val)
NM_000090.4(COL3A1):c.494C>A (p.Ala165Glu)
NM_000090.4(COL3A1):c.495A>G (p.Ala165=) rs2153501641
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del) rs1688079577
NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys)
NM_000090.4(COL3A1):c.532C>T (p.Pro178Ser)
NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg)
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu) rs746628029
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala) rs1688100904
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
NM_000090.4(COL3A1):c.568C>T (p.His190Tyr)
NM_000090.4(COL3A1):c.582+6dup
NM_000090.4(COL3A1):c.583-4C>G
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val) rs1342128671
NM_000090.4(COL3A1):c.616C>T (p.Pro206Ser) rs1688112134
NM_000090.4(COL3A1):c.624A>G (p.Gln208=) rs527415370
NM_000090.4(COL3A1):c.625G>A (p.Ala209Thr) rs1688112510
NM_000090.4(COL3A1):c.62T>A (p.Ile21Asn)
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu)
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
NM_000090.4(COL3A1):c.662T>C (p.Ile221Thr)
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala) rs1325737333
NM_000090.4(COL3A1):c.676C>T (p.Pro226Ser)
NM_000090.4(COL3A1):c.677C>T (p.Pro226Leu)
NM_000090.4(COL3A1):c.691-27_691-8del
NM_000090.4(COL3A1):c.707C>G (p.Pro236Arg) rs1688155159
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly) rs1333421028
NM_000090.4(COL3A1):c.740C>T (p.Pro247Leu)
NM_000090.4(COL3A1):c.745-3T>C
NM_000090.4(COL3A1):c.745-3T>G
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg) rs748787122
NM_000090.4(COL3A1):c.751A>G (p.Lys251Glu)
NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu)
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) rs1688161240
NM_000090.4(COL3A1):c.79+2_79+3dup rs1687768135
NM_000090.4(COL3A1):c.79+4A>G
NM_000090.4(COL3A1):c.798+4A>C
NM_000090.4(COL3A1):c.798+6T>C
NM_000090.4(COL3A1):c.815A>G (p.Asn272Ser)
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000090.4(COL3A1):c.825G>C (p.Lys275Asn)
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
NM_000090.4(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.4(COL3A1):c.852+3A>G
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
NM_000090.4(COL3A1):c.86_88del (p.Glu29del) rs1559052566
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.4(COL3A1):c.895A>G (p.Met299Val)
NM_000090.4(COL3A1):c.910G>T (p.Ala304Ser)
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser) rs1204385773
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.948T>A (p.Ala316=) rs1688194214
NM_000090.4(COL3A1):c.951+7A>G
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln) rs778179067
NM_000090.4(COL3A1):c.962_963insAAATGACGGTGCTCGAGG (p.Gly327_Ser328insAsnAspGlyAlaArgGly)
NM_000090.4(COL3A1):c.977G>A (p.Arg326Gln)
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)

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