ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, vascular type by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 686
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00017
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=) rs141091206 0.00016
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
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.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.2733T>C (p.Thr911=) rs138961881 0.00013
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=) rs370034518 0.00012
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=) rs146837092 0.00012
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.120G>A (p.Ala40=) rs138115610 0.00010
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=) rs141542949 0.00010
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=) rs375673185 0.00010
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974 0.00010
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His) rs138533702 0.00010
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=) rs765802289 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000090.4(COL3A1):c.3256-12A>G rs763415324 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.1050+6C>T rs528634384 0.00008
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=) rs771034601 0.00008
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=) rs763343051 0.00007
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser) rs769622439 0.00007
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=) rs147250987 0.00007
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000090.4(COL3A1):c.1128C>T (p.His376=) rs771015742 0.00006
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
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.1995C>T (p.Ala665=) rs149093989 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=) rs148901664 0.00006
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu) rs139610730 0.00006
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=) rs112723105 0.00006
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=) rs367872728 0.00006
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=) rs200917999 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983 0.00006
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) rs754584062 0.00006
NM_000090.4(COL3A1):c.873C>T (p.Gly291=) rs138569287 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg) rs374537884 0.00006
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=) rs745440847 0.00005
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=) rs373908002 0.00004
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.1743C>T (p.Pro581=) rs140229974 0.00004
NM_000090.4(COL3A1):c.2148T>C (p.Pro716=) rs146492493 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.2802G>A (p.Ser934=) rs113870310 0.00004
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=) rs756680770 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.3336T>C (p.Pro1112=) rs749357239 0.00004
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly) rs147706051 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.4255-14G>A rs758216726 0.00004
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp) rs760482912 0.00004
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=) rs778702019 0.00003
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln) rs774551212 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.2038C>T (p.Pro680Ser) rs372027308 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr) rs776814693 0.00003
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) rs778419091 0.00003
NM_000090.4(COL3A1):c.39C>T (p.Leu13=) rs1343634872 0.00003
NM_000090.4(COL3A1):c.708C>T (p.Pro236=) rs775390389 0.00003
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=) rs373392096 0.00002
NM_000090.4(COL3A1):c.1038C>T (p.Ser346=) rs772423521 0.00002
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln) rs1021622002 0.00002
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=) rs759650260 0.00002
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=) rs1373257114 0.00002
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=) rs141128796 0.00002
NM_000090.4(COL3A1):c.186C>T (p.Cys62=) rs764749176 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.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=) rs746947080 0.00002
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=) rs772997837 0.00002
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=) rs886038982 0.00002
NM_000090.4(COL3A1):c.2608-10C>T rs1217009146 0.00002
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=) rs41264441 0.00002
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala) rs777180110 0.00002
NM_000090.4(COL3A1):c.300T>C (p.Asn100=) rs776373729 0.00002
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=) rs151192026 0.00002
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) rs775562650 0.00002
NM_000090.4(COL3A1):c.3484C>T (p.Pro1162Ser) rs762147747 0.00002
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln) rs369494336 0.00002
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831 0.00002
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His) rs368119434 0.00002
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val) rs148387626 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=) rs113753099 0.00002
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000090.4(COL3A1):c.432C>T (p.Cys144=) rs539430522 0.00002
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=) rs376207711 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.691-8C>G rs749433733 0.00002
NM_000090.4(COL3A1):c.696A>G (p.Glu232=) rs193922177 0.00002
NM_000090.4(COL3A1):c.804C>T (p.Phe268=) rs267599121 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.969C>T (p.Asp323=) rs779278835 0.00002
NM_000090.4(COL3A1):c.-10A>G rs41272793 0.00001
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.1050+7_1050+8del rs759415640 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.1150-4T>G rs756350810 0.00001
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr) rs763720540 0.00001
NM_000090.4(COL3A1):c.1197T>C (p.Gly399=) rs892020201 0.00001
NM_000090.4(COL3A1):c.1200C>T (p.Pro400=) rs557759394 0.00001
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) rs794728035 0.00001
NM_000090.4(COL3A1):c.129T>C (p.Asp43=) rs774591764 0.00001
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser) rs1688260053 0.00001
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=) rs1553507953 0.00001
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His) rs888082655 0.00001
NM_000090.4(COL3A1):c.1348-4T>C rs756811190 0.00001
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr) rs745315358 0.00001
NM_000090.4(COL3A1):c.13G>A (p.Val5Met) rs1461198652 0.00001
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser) rs748530632 0.00001
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=) rs368765585 0.00001
NM_000090.4(COL3A1):c.1437A>G (p.Pro479=) rs1001916364 0.00001
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro) rs374532173 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.1513C>T (p.Pro505Ser) rs776430998 0.00001
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=) rs761742677 0.00001
NM_000090.4(COL3A1):c.1545A>G (p.Ala515=) rs1250297410 0.00001
NM_000090.4(COL3A1):c.1558G>A (p.Ala520Thr) rs1410374684 0.00001
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=) rs890700564 0.00001
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser) rs752163277 0.00001
NM_000090.4(COL3A1):c.1685G>A (p.Arg562Gln) rs774146040 0.00001
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp) rs1435010100 0.00001
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile) rs762028131 0.00001
NM_000090.4(COL3A1):c.1801G>A (p.Gly601Arg) rs767889802 0.00001
NM_000090.4(COL3A1):c.1816-6T>G rs1474453319 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.1872G>A (p.Gly624=) rs372901096 0.00001
NM_000090.4(COL3A1):c.1893C>T (p.Asp631=) rs1171472504 0.00001
NM_000090.4(COL3A1):c.1924-4C>T rs755814664 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.1978-12C>T rs753526966 0.00001
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met) rs372269408 0.00001
NM_000090.4(COL3A1):c.2023-15A>G rs764932588 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=) rs768133491 0.00001
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) rs753162027 0.00001
NM_000090.4(COL3A1):c.204C>T (p.Asp68=) rs368299739 0.00001
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn) rs112714742 0.00001
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) rs886038228 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.2461C>A (p.Pro821Thr) rs1296092212 0.00001
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser) rs755676319 0.00001
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg) rs1363971558 0.00001
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu) rs943287668 0.00001
NM_000090.4(COL3A1):c.2554-4A>G rs543263157 0.00001
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=) rs774245587 0.00001
NM_000090.4(COL3A1):c.2587C>T (p.Arg863Cys) rs568639668 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.2689G>A (p.Gly897Ser) rs794728054 0.00001
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=) rs754015151 0.00001
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=) rs915948354 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.284C>T (p.Pro95Leu) rs780260944 0.00001
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=) rs780866547 0.00001
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser) rs1431359737 0.00001
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala) rs142457159 0.00001
NM_000090.4(COL3A1):c.3040-12T>C rs757034411 0.00001
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) rs780788248 0.00001
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=) rs1399453028 0.00001
NM_000090.4(COL3A1):c.3114C>T (p.Gly1038=) rs982248094 0.00001
NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu) rs762567565 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.3321A>G (p.Gly1107=) rs1364238191 0.00001
NM_000090.4(COL3A1):c.334-13A>G rs375137220 0.00001
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg) rs1688622334 0.00001
NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=) rs1045040851 0.00001
NM_000090.4(COL3A1):c.3364-8C>T rs779073034 0.00001
NM_000090.4(COL3A1):c.3418-15A>G rs754815421 0.00001
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser) rs748793822 0.00001
NM_000090.4(COL3A1):c.3492G>A (p.Gly1164=) rs750595642 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.3606C>T (p.Ala1202=) rs755573602 0.00001
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000090.4(COL3A1):c.3687C>T (p.Ile1229=) rs1246267310 0.00001
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys) rs1190691997 0.00001
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) rs368556405 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.3824-14T>G rs762561768 0.00001
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser) rs1483989815 0.00001
NM_000090.4(COL3A1):c.3847C>G (p.Gln1283Glu) rs587779467 0.00001
NM_000090.4(COL3A1):c.3852A>G (p.Gly1284=) rs1332063006 0.00001
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=) rs770201950 0.00001
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524 0.00001
NM_000090.4(COL3A1):c.3975C>T (p.His1325=) rs1167154450 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.4080C>G (p.Leu1360=) rs771682647 0.00001
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr) rs547373542 0.00001
NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser) rs547373542 0.00001
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg) rs775951025 0.00001
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204 0.00001
NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly) rs1231364424 0.00001
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr) rs747651283 0.00001
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met) rs1012915558 0.00001
NM_000090.4(COL3A1):c.4257A>G (p.Lys1419=) rs754723643 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 0.00001
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu) rs908421014 0.00001
NM_000090.4(COL3A1):c.4284C>A (p.Val1428=) rs746436515 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.464A>G (p.Tyr155Cys) rs1160176510 0.00001
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu) rs1016172772 0.00001
NM_000090.4(COL3A1):c.507C>T (p.Leu169=) rs142437505 0.00001
NM_000090.4(COL3A1):c.531C>A (p.Gly177=) rs41272797 0.00001
NM_000090.4(COL3A1):c.537A>G (p.Pro179=) rs750191923 0.00001
NM_000090.4(COL3A1):c.621G>A (p.Gly207=) rs779352711 0.00001
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser) rs1325737333 0.00001
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln) rs760324242 0.00001
NM_000090.4(COL3A1):c.745-7T>C rs776306752 0.00001
NM_000090.4(COL3A1):c.747T>C (p.Gly249=) rs1559054631 0.00001
NM_000090.4(COL3A1):c.759A>G (p.Pro253=) rs376198106 0.00001
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) rs113304344 0.00001
NM_000090.4(COL3A1):c.819A>G (p.Gly273=) rs761106446 0.00001
NM_000090.4(COL3A1):c.84T>C (p.Val28=) rs752574994 0.00001
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val) rs1016767830 0.00001
NM_000090.4(COL3A1):c.891A>C (p.Gly297=) rs751603655 0.00001
NM_000090.4(COL3A1):c.897+4A>G rs886039191 0.00001
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg) rs1273313377 0.00001
NM_000090.4(COL3A1):c.945G>A (p.Gly315=) rs372206736 0.00001
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) rs1229792348 0.00001
NM_000090.4(COL3A1):c.-9T>C
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser) rs757785982
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
NM_000090.4(COL3A1):c.1017A>T (p.Gly339=)
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile) rs1688228735
NM_000090.4(COL3A1):c.1058T>C (p.Val353Ala)
NM_000090.4(COL3A1):c.1089T>C (p.Gly363=)
NM_000090.4(COL3A1):c.1092C>T (p.Ala364=)
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser)
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=)
NM_000090.4(COL3A1):c.109C>G (p.Gln37Glu)
NM_000090.4(COL3A1):c.1108G>A (p.Glu370Lys)
NM_000090.4(COL3A1):c.1108G>C (p.Glu370Gln)
NM_000090.4(COL3A1):c.1111C>A (p.Pro371Thr)
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=)
NM_000090.4(COL3A1):c.1150-10G>T
NM_000090.4(COL3A1):c.1150-5C>T
NM_000090.4(COL3A1):c.1150-8A>G
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=) rs1688243975
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
NM_000090.4(COL3A1):c.1195-5C>T
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
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.1234G>A (p.Ala412Thr)
NM_000090.4(COL3A1):c.123T>C (p.Asp41=) rs770961095
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=)
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp) rs1688252085
NM_000090.4(COL3A1):c.1287T>C (p.Gly429=)
NM_000090.4(COL3A1):c.1294-12G>T
NM_000090.4(COL3A1):c.1324G>C (p.Glu442Gln)
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=) rs527291598
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.4(COL3A1):c.1348-11T>C rs1334349221
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys) rs2153502439
NM_000090.4(COL3A1):c.1405T>A (p.Ser469Thr)
NM_000090.4(COL3A1):c.1416A>G (p.Glu472=)
NM_000090.4(COL3A1):c.1435C>G (p.Pro479Ala)
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser) rs1425504057
NM_000090.4(COL3A1):c.1443T>C (p.Ala481=)
NM_000090.4(COL3A1):c.1445C>A (p.Ala482Glu)
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=) rs747522483
NM_000090.4(COL3A1):c.1489A>G (p.Asn497Asp)
NM_000090.4(COL3A1):c.1491T>C (p.Asn497=)
NM_000090.4(COL3A1):c.1505A>G (p.Glu502Gly)
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.1510-14C>A
NM_000090.4(COL3A1):c.1510-4T>C rs529479786
NM_000090.4(COL3A1):c.1531G>C (p.Ala511Pro)
NM_000090.4(COL3A1):c.1536A>C (p.Pro512=) rs975159988
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg) rs142085247
NM_000090.4(COL3A1):c.1577G>A (p.Arg526Lys)
NM_000090.4(COL3A1):c.1590T>C (p.Pro530=) rs1688293277
NM_000090.4(COL3A1):c.1608+4C>T
NM_000090.4(COL3A1):c.1609-10T>C rs762824449
NM_000090.4(COL3A1):c.1624C>A (p.Pro542Thr)
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
NM_000090.4(COL3A1):c.1651C>A (p.Pro551Thr)
NM_000090.4(COL3A1):c.1656G>T (p.Gly552=)
NM_000090.4(COL3A1):c.1658C>T (p.Pro553Leu) rs1330285574
NM_000090.4(COL3A1):c.1663-4T>C
NM_000090.4(COL3A1):c.1663-9del rs770372880
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn) rs1688319466
NM_000090.4(COL3A1):c.1668T>G (p.Ser556Arg) rs1688319570
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
NM_000090.4(COL3A1):c.1697C>G (p.Pro566Arg)
NM_000090.4(COL3A1):c.1712C>T (p.Pro571Leu)
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1761T>A (p.Asp587Glu)
NM_000090.4(COL3A1):c.1762-11T>G rs761637298
NM_000090.4(COL3A1):c.1762-6C>T rs2153502785
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr) rs1327158014
NM_000090.4(COL3A1):c.1765G>T (p.Ala589Ser)
NM_000090.4(COL3A1):c.178G>C (p.Val60Leu)
NM_000090.4(COL3A1):c.1794C>T (p.Gly598=)
NM_000090.4(COL3A1):c.1795C>A (p.Pro599Thr)
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala) rs35795890
NM_000090.4(COL3A1):c.1816-14G>A rs7579815
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=) rs1576467117
NM_000090.4(COL3A1):c.1863G>A (p.Gly621=)
NM_000090.4(COL3A1):c.1867A>G (p.Thr623Ala)
NM_000090.4(COL3A1):c.1869+4A>G
NM_000090.4(COL3A1):c.1870-13_1870-11del rs1312775368
NM_000090.4(COL3A1):c.1878T>A (p.Gly626=)
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn) rs1688031625
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys) rs769039976
NM_000090.4(COL3A1):c.1900C>A (p.Pro634Thr)
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser) rs762129273
NM_000090.4(COL3A1):c.1910C>T (p.Pro637Leu)
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=)
NM_000090.4(COL3A1):c.1957A>C (p.Asn653His)
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) rs2153501357
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.4(COL3A1):c.1976C>A (p.Pro659Gln)
NM_000090.4(COL3A1):c.197T>G (p.Ile66Arg)
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2020A>G (p.Lys674Glu)
NM_000090.4(COL3A1):c.205G>C (p.Asp69His)
NM_000090.4(COL3A1):c.2062T>A (p.Leu688Met)
NM_000090.4(COL3A1):c.2071G>A (p.Ala691Thr)
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val) rs199851835
NM_000090.4(COL3A1):c.2075C>T (p.Pro692Leu)
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
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.2108C>T (p.Pro703Leu) rs1688401669
NM_000090.4(COL3A1):c.2115A>T (p.Gly705=)
NM_000090.4(COL3A1):c.2121+1G>C rs587779675
NM_000090.4(COL3A1):c.2122-3C>T
NM_000090.4(COL3A1):c.2138C>T (p.Pro713Leu)
NM_000090.4(COL3A1):c.2142G>A (p.Gly714=)
NM_000090.4(COL3A1):c.2146C>T (p.Pro716Ser)
NM_000090.4(COL3A1):c.2152G>T (p.Ala718Ser)
NM_000090.4(COL3A1):c.2153C>T (p.Ala718Val)
NM_000090.4(COL3A1):c.2155G>A (p.Ala719Thr)
NM_000090.4(COL3A1):c.2188G>C (p.Glu730Gln)
NM_000090.4(COL3A1):c.218A>G (p.Asp73Gly)
NM_000090.4(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.4(COL3A1):c.2241C>A (p.Gly747=)
NM_000090.4(COL3A1):c.2262C>T (p.Val754=)
NM_000090.4(COL3A1):c.2282G>A (p.Arg761Lys)
NM_000090.4(COL3A1):c.2284-15T>A
NM_000090.4(COL3A1):c.2296C>G (p.Pro766Ala)
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser) rs1688032952
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
NM_000090.4(COL3A1):c.2338-7T>C rs1688463217
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr) rs1179918994
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=) rs200452382
NM_000090.4(COL3A1):c.2373T>G (p.Ala791=)
NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu)
NM_000090.4(COL3A1):c.2392-4T>A
NM_000090.4(COL3A1):c.2392-5T>A
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu) rs2153500011
NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=) rs1688486002
NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser)
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr) rs1688486281
NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val)
NM_000090.4(COL3A1):c.2446-3T>C
NM_000090.4(COL3A1):c.2446-5T>C
NM_000090.4(COL3A1):c.2462C>T (p.Pro821Leu)
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2498A>T (p.Lys833Ile)
NM_000090.4(COL3A1):c.24G>C (p.Gly8=)
NM_000090.4(COL3A1):c.2507G>A (p.Gly836Glu)
NM_000090.4(COL3A1):c.2511C>T (p.Gly837=)
NM_000090.4(COL3A1):c.2515C>T (p.Pro839Ser)
NM_000090.4(COL3A1):c.2530C>A (p.Pro844Thr)
NM_000090.4(COL3A1):c.2533C>A (p.Pro845Thr)
NM_000090.4(COL3A1):c.2554-6A>G rs1688514197
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile)
NM_000090.4(COL3A1):c.2587C>A (p.Arg863Ser)
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) rs755762264
NM_000090.4(COL3A1):c.2588G>T (p.Arg863Leu)
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr) rs758992360
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.4(COL3A1):c.2608-16_2608-12del
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro) rs1475390693
NM_000090.4(COL3A1):c.2632C>T (p.Arg878Cys)
NM_000090.4(COL3A1):c.2639T>C (p.Leu880Pro)
NM_000090.4(COL3A1):c.2657G>C (p.Ser886Thr)
NM_000090.4(COL3A1):c.2662-12A>C
NM_000090.4(COL3A1):c.2669C>T (p.Pro890Leu)
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg) rs1455100373
NM_000090.4(COL3A1):c.2703G>C (p.Lys901Asn)
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu)
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.2742T>C (p.Pro914=)
NM_000090.4(COL3A1):c.2769A>G (p.Lys923=)
NM_000090.4(COL3A1):c.2776G>A (p.Ala926Thr)
NM_000090.4(COL3A1):c.2786C>A (p.Pro929Gln)
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu) rs753621331
NM_000090.4(COL3A1):c.2804C>G (p.Pro935Arg)
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.4(COL3A1):c.2823+4A>G
NM_000090.4(COL3A1):c.2824-3T>C
NM_000090.4(COL3A1):c.283-12del
NM_000090.4(COL3A1):c.2835C>T (p.Gly945=)
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=) rs1688537796
NM_000090.4(COL3A1):c.2853G>A (p.Gly951=)
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
NM_000090.4(COL3A1):c.2867G>C (p.Arg956Pro)
NM_000090.4(COL3A1):c.286A>G (p.Thr96Ala)
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
NM_000090.4(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu) rs1197947308
NM_000090.4(COL3A1):c.2932-6A>T rs1688561621
NM_000090.4(COL3A1):c.2939G>C (p.Ser980Thr)
NM_000090.4(COL3A1):c.2967T>G (p.Ser989Arg)
NM_000090.4(COL3A1):c.2971G>A (p.Glu991Lys)
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu) rs1688563132
NM_000090.4(COL3A1):c.2982C>A (p.Pro994=)
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
NM_000090.4(COL3A1):c.2984C>G (p.Pro995Arg)
NM_000090.4(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.4(COL3A1):c.2998C>T (p.Leu1000Phe)
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys) rs776373729
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
NM_000090.4(COL3A1):c.3046C>A (p.Pro1016Thr)
NM_000090.4(COL3A1):c.3064C>T (p.Pro1022Ser)
NM_000090.4(COL3A1):c.3073G>A (p.Asp1025Asn)
NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala)
NM_000090.4(COL3A1):c.3079T>G (p.Ser1027Ala)
NM_000090.4(COL3A1):c.307G>A (p.Gly103Arg)
NM_000090.4(COL3A1):c.3089G>T (p.Gly1030Val)
NM_000090.4(COL3A1):c.3093+3A>C rs771429937
NM_000090.4(COL3A1):c.3093+4T>C
NM_000090.4(COL3A1):c.3094-8G>A
NM_000090.4(COL3A1):c.3094-8G>T
NM_000090.4(COL3A1):c.30G>C (p.Trp10Cys)
NM_000090.4(COL3A1):c.310C>G (p.Pro104Ala)
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.4(COL3A1):c.3115T>G (p.Ser1039Ala)
NM_000090.4(COL3A1):c.3125C>T (p.Ala1042Val)
NM_000090.4(COL3A1):c.3142C>T (p.His1048Tyr)
NM_000090.4(COL3A1):c.3143A>G (p.His1048Arg) rs2153503727
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser) rs2153503729
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=)
NM_000090.4(COL3A1):c.3200G>T (p.Ser1067Ile)
NM_000090.4(COL3A1):c.3202-15A>G
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser) rs200122671
NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=) rs774148328
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser) rs1688598580
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.4(COL3A1):c.322A>G (p.Lys108Glu)
NM_000090.4(COL3A1):c.3256-44A>G
NM_000090.4(COL3A1):c.3256-6C>T
NM_000090.4(COL3A1):c.3259C>T (p.Pro1087Ser) rs1688619897
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg) rs1224538144
NM_000090.4(COL3A1):c.3313A>G (p.Ile1105Val)
NM_000090.4(COL3A1):c.331C>T (p.Pro111Ser)
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.3349G>T (p.Ala1117Ser)
NM_000090.4(COL3A1):c.3361C>G (p.Pro1121Ala)
NM_000090.4(COL3A1):c.3364-4C>G
NM_000090.4(COL3A1):c.3364-8C>G
NM_000090.4(COL3A1):c.3364G>A (p.Gly1122Ser)
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser) rs1688630479
NM_000090.4(COL3A1):c.338C>T (p.Pro113Leu)
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=) rs148918486
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3403C>A (p.Pro1135Thr)
NM_000090.4(COL3A1):c.3417+4A>G
NM_000090.4(COL3A1):c.3421C>T (p.Pro1141Ser)
NM_000090.4(COL3A1):c.3424G>A (p.Val1142Ile) rs2153503966
NM_000090.4(COL3A1):c.3451G>T (p.Asp1151Tyr)
NM_000090.4(COL3A1):c.3457A>C (p.Thr1153Pro)
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs) rs2153503975
NM_000090.4(COL3A1):c.3469C>A (p.Pro1157Thr)
NM_000090.4(COL3A1):c.3477C>T (p.Pro1159=)
NM_000090.4(COL3A1):c.3516A>G (p.Arg1172=)
NM_000090.4(COL3A1):c.3525+5G>A rs2153503988
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
NM_000090.4(COL3A1):c.3542C>G (p.Pro1181Arg)
NM_000090.4(COL3A1):c.3555C>A (p.Gly1185=)
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser) rs2153504076
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser) rs1324996402
NM_000090.4(COL3A1):c.356G>A (p.Arg119Lys)
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser) rs1275851079
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val) rs1688658772
NM_000090.4(COL3A1):c.3602G>T (p.Gly1201Val)
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr) rs1270244946
NM_000090.4(COL3A1):c.3611C>T (p.Ala1204Val)
NM_000090.4(COL3A1):c.3615T>C (p.Ile1205=)
NM_000090.4(COL3A1):c.3638C>T (p.Ala1213Val)
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=) rs35759441
NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu)
NM_000090.4(COL3A1):c.3683A>C (p.Lys1228Thr)
NM_000090.4(COL3A1):c.3683A>T (p.Lys1228Ile)
NM_000090.4(COL3A1):c.368C>A (p.Pro123His)
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=) rs1332611074
NM_000090.4(COL3A1):c.3697G>C (p.Glu1233Gln)
NM_000090.4(COL3A1):c.3734T>C (p.Ile1245Thr)
NM_000090.4(COL3A1):c.3748A>G (p.Ser1250Gly)
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu)
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn) rs1688664293
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys) rs1576473569
NM_000090.4(COL3A1):c.3796A>G (p.Lys1266Glu)
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser) rs1194692141
NM_000090.4(COL3A1):c.3801C>G (p.Phe1267Leu) rs1042884028
NM_000090.4(COL3A1):c.3818A>T (p.Lys1273Met)
NM_000090.4(COL3A1):c.3823+3A>G
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu) rs757734757
NM_000090.4(COL3A1):c.3868A>G (p.Ile1290Val)
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr) rs1688690716
NM_000090.4(COL3A1):c.3873G>A (p.Lys1291=) rs1688690801
NM_000090.4(COL3A1):c.387A>T (p.Pro129=)
NM_000090.4(COL3A1):c.3882T>C (p.Cys1294=) rs1033051824
NM_000090.4(COL3A1):c.3885T>A (p.Asn1295Lys)
NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr)
NM_000090.4(COL3A1):c.3893C>A (p.Thr1298Asn)
NM_000090.4(COL3A1):c.390G>T (p.Gly130=) rs771480377
NM_000090.4(COL3A1):c.3917A>G (p.Asn1306Ser)
NM_000090.4(COL3A1):c.3922T>C (p.Leu1308=)
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu) rs886038983
NM_000090.4(COL3A1):c.393C>T (p.Ser131=) rs1688052638
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=) rs749456336
NM_000090.4(COL3A1):c.3994A>G (p.Met1332Val)
NM_000090.4(COL3A1):c.399T>G (p.Gly133=)
NM_000090.4(COL3A1):c.4012-10C>G
NM_000090.4(COL3A1):c.4012-11C>A
NM_000090.4(COL3A1):c.402T>G (p.Ser134=) rs2153501486
NM_000090.4(COL3A1):c.4041A>C (p.Glu1347Asp)
NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=) rs1016578152
NM_000090.4(COL3A1):c.4076T>A (p.Leu1359His)
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln) rs1227282800
NM_000090.4(COL3A1):c.408C>G (p.Gly136=) rs762388691
NM_000090.4(COL3A1):c.40G>C (p.Ala14Pro)
NM_000090.4(COL3A1):c.412C>T (p.Pro138Ser)
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=) rs560478513
NM_000090.4(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu) rs1060500196
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) rs1158116878
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=) rs1054676420
NM_000090.4(COL3A1):c.4204G>C (p.Ala1402Pro)
NM_000090.4(COL3A1):c.4205C>A (p.Ala1402Asp) rs1688708521
NM_000090.4(COL3A1):c.4247G>T (p.Gly1416Val)
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys) rs1012915558
NM_000090.4(COL3A1):c.4255-10T>G
NM_000090.4(COL3A1):c.4255-5T>C
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg) rs1688728943
NM_000090.4(COL3A1):c.4280C>T (p.Thr1427Ile)
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln) rs772428340
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) rs148015311
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=) rs112729086
NM_000090.4(COL3A1):c.4374G>A (p.Val1458=)
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr) rs1688732943
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg)
NM_000090.4(COL3A1):c.477T>C (p.Asp159=)
NM_000090.4(COL3A1):c.485C>G (p.Ser162Cys)
NM_000090.4(COL3A1):c.496G>C (p.Val166Leu)
NM_000090.4(COL3A1):c.507C>G (p.Leu169=) rs142437505
NM_000090.4(COL3A1):c.508G>T (p.Ala170Ser)
NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala)
NM_000090.4(COL3A1):c.526G>T (p.Ala176Ser)
NM_000090.4(COL3A1):c.531C>T (p.Gly177=) rs41272797
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu) rs746628029
NM_000090.4(COL3A1):c.546C>A (p.Pro182=) rs754584062
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>C (p.Thr19Pro)
NM_000090.4(COL3A1):c.569A>C (p.His190Pro)
NM_000090.4(COL3A1):c.582+6dup
NM_000090.4(COL3A1):c.583-14A>T
NM_000090.4(COL3A1):c.583-4C>T
NM_000090.4(COL3A1):c.583-6C>A
NM_000090.4(COL3A1):c.583-7T>C rs886055330
NM_000090.4(COL3A1):c.590C>A (p.Pro197Gln)
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
NM_000090.4(COL3A1):c.627T>A (p.Ala209=)
NM_000090.4(COL3A1):c.636A>G (p.Ser212=)
NM_000090.4(COL3A1):c.637-12C>T
NM_000090.4(COL3A1):c.639C>A (p.Gly213=) rs2153501865
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu)
NM_000090.4(COL3A1):c.644C>G (p.Pro215Arg)
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr)
NM_000090.4(COL3A1):c.670T>C (p.Ser224Pro)
NM_000090.4(COL3A1):c.687A>T (p.Lys229Asn)
NM_000090.4(COL3A1):c.691-15T>C
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
NM_000090.4(COL3A1):c.723G>T (p.Glu241Asp)
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly) rs1333421028
NM_000090.4(COL3A1):c.731T>C (p.Leu244Ser)
NM_000090.4(COL3A1):c.758C>G (p.Pro253Arg)
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) rs1688161240
NM_000090.4(COL3A1):c.80-3C>T
NM_000090.4(COL3A1):c.80C>G (p.Ala27Gly)
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
NM_000090.4(COL3A1):c.873C>A (p.Gly291=) rs138569287
NM_000090.4(COL3A1):c.888T>G (p.Pro296=)
NM_000090.4(COL3A1):c.898-8C>T rs766564882
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
NM_000090.4(COL3A1):c.910G>C (p.Ala304Pro)
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser) rs2153502120
NM_000090.4(COL3A1):c.939T>C (p.Leu313=)
NM_000090.4(COL3A1):c.940C>G (p.Pro314Ala)
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.952-11T>A
NM_000090.4(COL3A1):c.958C>G (p.Arg320Gly)
NM_000090.4(COL3A1):c.958C>T (p.Arg320Trp) rs1386163891
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln) rs778179067
NM_000090.4(COL3A1):c.963T>G (p.Gly321=)
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly) rs1688204324
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
NM_000090.4(COL3A1):c.997-4T>A
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000090.4(COL3A1):c.999C>A (p.Gly333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.