ClinVar Miner

List of variants in gene COL3A1 studied for Ehlers-Danlos syndrome, vascular type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2330
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_000090.4(COL3A1):c.2337+23T>A rs2271682 0.71236
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000090.4(COL3A1):c.3824-31C>A rs10204508 0.23605
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_000090.4(COL3A1):c.*799_*800del rs13306265 0.23375
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_000090.4(COL3A1):c.1815+18A>G rs28413125 0.08030
NM_000090.4(COL3A1):c.*43A>G rs8224 0.02368
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.3525+19del rs138061246 0.01120
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_000090.4(COL3A1):c.*34T>G rs191843385 0.00838
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000090.4(COL3A1):c.*88C>T rs11162 0.00708
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000090.4(COL3A1):c.*592T>A rs115345151 0.00630
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000090.4(COL3A1):c.4059= (p.His1353=) rs1516446 0.00491
NM_000090.4(COL3A1):c.-80G>A rs41265575 0.00470
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000090.4(COL3A1):c.3039+16T>G rs41264443 0.00259
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_000090.4(COL3A1):c.*828G>T rs372150712 0.00194
NM_000090.4(COL3A1):c.*674G>A rs190903102 0.00185
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) rs79632685 0.00162
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000090.4(COL3A1):c.*923A>T rs146222772 0.00146
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000090.3(COL3A1):c.-118T>G rs549951495 0.00069
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000090.4(COL3A1):c.3202-14del rs767971610 0.00059
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
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.*467T>A rs886055341 0.00036
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.*622T>C rs572369155 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000090.4(COL3A1):c.799-11A>T rs200148262 0.00021
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.1348-18A>G rs115062076 0.00014
NM_000090.4(COL3A1):c.3040-18T>G rs369590025 0.00014
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000090.4(COL3A1):c.2733T>C (p.Thr911=) rs138961881 0.00013
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788 0.00013
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000090.4(COL3A1):c.*406A>G rs770571552 0.00012
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.1697C>T (p.Pro566Leu) rs150543864 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.3818A>G (p.Lys1273Arg) rs144614075 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.3525+19G>A rs781061046 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.-101G>A rs41265577 0.00009
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.1977+10G>A rs768976215 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.*72A>G rs928894236 0.00007
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.952-7T>A rs371250417 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.1586T>C (p.Val529Ala) rs201980471 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.266C>T (p.Pro89Leu) rs139610730 0.00006
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=) rs112723105 0.00006
NM_000090.4(COL3A1):c.2824-5A>T rs373994011 0.00006
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=) rs367872728 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 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.3418-12A>G rs373367218 0.00006
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983 0.00006
NM_000090.4(COL3A1):c.3993C>T (p.Ser1331=) rs750815694 0.00006
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) rs754584062 0.00006
NM_000090.4(COL3A1):c.744+11A>G rs375977001 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.1150-20T>C rs377676752 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
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.2241C>T (p.Gly747=) rs745440847 0.00005
NM_000090.4(COL3A1):c.2553+7T>C rs951182466 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.1348-13T>C rs753505868 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.2121+18C>A rs587780904 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.2931+8T>C rs949146538 0.00004
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=) rs756680770 0.00004
NM_000090.4(COL3A1):c.3202-17G>A rs769789431 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.4075C>A (p.Leu1359Ile) rs1400489265 0.00004
NM_000090.4(COL3A1):c.4159A>G (p.Lys1387Glu) rs145138575 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.898-20A>G rs368279636 0.00004
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp) rs757062073 0.00004
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln) rs778497667 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.1509+2T>C rs1553508039 0.00003
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=) rs946270867 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.1816-4T>C rs765128089 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.2274T>C (p.Asp758=) rs1060503872 0.00003
NM_000090.4(COL3A1):c.2446-10T>C rs1060500195 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000090.4(COL3A1):c.2608-19A>C rs372917900 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.3532C>T (p.Pro1178Ser) rs759565407 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.447+13C>T rs751726448 0.00003
NM_000090.4(COL3A1):c.708C>T (p.Pro236=) rs775390389 0.00003
NM_000090.4(COL3A1):c.853-7T>C rs377063305 0.00003
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val) rs754503346 0.00003
NM_000090.4(COL3A1):c.*89G>A rs886055335 0.00002
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.1234G>T (p.Ala412Ser) rs768314657 0.00002
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln) rs1021622002 0.00002
NM_000090.4(COL3A1):c.1464T>C (p.Pro488=) rs377706172 0.00002
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=) rs759650260 0.00002
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys) rs1485092842 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.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.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=) rs746947080 0.00002
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362 0.00002
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=) rs772997837 0.00002
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892 0.00002
NM_000090.4(COL3A1):c.2608-10C>T rs1217009146 0.00002
NM_000090.4(COL3A1):c.2823+20T>A rs577105300 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.3069C>A (p.Gly1023=) rs778417073 0.00002
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) rs775562650 0.00002
NM_000090.4(COL3A1):c.3411C>T (p.Gly1137=) rs776330422 0.00002
NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=) rs776077444 0.00002
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr) rs147054108 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.3526-16G>A rs373856456 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.3776C>T (p.Ala1259Val) rs148387626 0.00002
NM_000090.4(COL3A1):c.4011+3A>G rs112254545 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.4176G>A (p.Leu1392=) rs758221289 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.4341T>C (p.Tyr1447=) rs773400185 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.528+9A>T rs746532251 0.00002
NM_000090.4(COL3A1):c.582+12C>T rs41272799 0.00002
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro) rs780921226 0.00002
NM_000090.4(COL3A1):c.690+15C>T rs374426800 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.*643G>A rs1688748242 0.00001
NM_000090.4(COL3A1):c.*740A>T rs1005052846 0.00001
NM_000090.4(COL3A1):c.*818T>C rs886055344 0.00001
NM_000090.4(COL3A1):c.-10A>G rs41272793 0.00001
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.1050+7_1050+8del rs759415640 0.00001
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala) rs574831241 0.00001
NM_000090.4(COL3A1):c.1080T>C (p.Gly360=) rs1231189635 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.1150-19C>T rs1259944548 0.00001
NM_000090.4(COL3A1):c.1150-4T>G rs756350810 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.1194+9T>C rs1244921213 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.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.1294-8T>C rs1226243055 0.00001
NM_000090.4(COL3A1):c.129T>C (p.Asp43=) rs774591764 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.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.1410T>C (p.Pro470=) rs1010477216 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.1455+12A>G rs752647323 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.1509+7A>C rs201740954 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.1557A>C (p.Gly519=) rs754318905 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.1594G>A (p.Gly532Ser) rs138166497 0.00001
NM_000090.4(COL3A1):c.1609-17T>G rs1468376126 0.00001
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335 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.1716A>C (p.Arg572=) rs751916055 0.00001
NM_000090.4(COL3A1):c.1761+6T>C rs189483688 0.00001
NM_000090.4(COL3A1):c.1762-17G>A rs768134782 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.1813C>G (p.Gln605Glu) rs764299277 0.00001
NM_000090.4(COL3A1):c.1815+4C>T rs757154607 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.183C>T (p.Leu61=) rs753474870 0.00001
NM_000090.4(COL3A1):c.1857C>G (p.Pro619=) rs769323072 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.1870-14T>C rs201315795 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.18A>G (p.Gln6=) rs892404442 0.00001
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu) rs902780774 0.00001
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) rs794728048 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.1977+15A>G rs1157414171 0.00001
NM_000090.4(COL3A1):c.1977+19T>C rs1688375431 0.00001
NM_000090.4(COL3A1):c.1978-12C>T rs753526966 0.00001
NM_000090.4(COL3A1):c.1978-13G>A rs763906653 0.00001
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met) rs372269408 0.00001
NM_000090.4(COL3A1):c.2022+12A>G rs745914997 0.00001
NM_000090.4(COL3A1):c.2023-15A>G rs764932588 0.00001
NM_000090.4(COL3A1):c.2023-1G>T rs587779708 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.2047C>T (p.Arg683Cys) rs1254414798 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.2074C>A (p.Pro692Thr) rs1160258883 0.00001
NM_000090.4(COL3A1):c.2121+10C>T rs763630559 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.2230-10T>C rs1311894180 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.2310T>G (p.Pro770=) rs1321267556 0.00001
NM_000090.4(COL3A1):c.2317G>T (p.Ala773Ser) rs1170068141 0.00001
NM_000090.4(COL3A1):c.2337+16A>G rs759863835 0.00001
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr) rs1296092212 0.00001
NM_000090.4(COL3A1):c.2481A>G (p.Arg827=) rs1355382847 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.2511C>A (p.Gly837=) rs1157152697 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.2565T>C (p.Gly855=) rs774245587 0.00001
NM_000090.4(COL3A1):c.2567C>T (p.Pro856Leu) rs1688514900 0.00001
NM_000090.4(COL3A1):c.2587C>T (p.Arg863Cys) rs568639668 0.00001
NM_000090.4(COL3A1):c.258A>C (p.Ala86=) rs775636888 0.00001
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala) rs1158155272 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.267A>G (p.Pro89=) rs998965783 0.00001
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054 0.00001
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=) rs1057524521 0.00001
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=) rs754015151 0.00001
NM_000090.4(COL3A1):c.275C>T (p.Pro92Leu) rs368889070 0.00001
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.2766A>G (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.2848G>A (p.Ala950Thr) rs1170896025 0.00001
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu) rs780260944 0.00001
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) rs768671254 0.00001
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=) rs780866547 0.00001
NM_000090.4(COL3A1):c.2931+9A>T rs752325298 0.00001
NM_000090.4(COL3A1):c.2962C>T (p.Leu988Phe) rs978290107 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.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.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.3163G>A (p.Val1055Ile) rs747197616 0.00001
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser) rs180938313 0.00001
NM_000090.4(COL3A1):c.3202-5C>A rs1417576506 0.00001
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516 0.00001
NM_000090.4(COL3A1):c.3219T>G (p.Ala1073=) rs767247799 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.3298C>T (p.Arg1100Cys) rs755321924 0.00001
NM_000090.4(COL3A1):c.3321A>G (p.Gly1107=) rs1364238191 0.00001
NM_000090.4(COL3A1):c.333+15T>C rs764678861 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.3363+9A>G rs1286958692 0.00001
NM_000090.4(COL3A1):c.3364-8C>T rs779073034 0.00001
NM_000090.4(COL3A1):c.3417+6T>C rs1201578152 0.00001
NM_000090.4(COL3A1):c.3418-15A>G rs754815421 0.00001
NM_000090.4(COL3A1):c.3418-5C>A rs377392671 0.00001
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser) rs748793822 0.00001
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870 0.00001
NM_000090.4(COL3A1):c.3492G>A (p.Gly1164=) rs750595642 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 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.3637G>T (p.Ala1213Ser) rs1427744978 0.00001
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser) rs767577382 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.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.3824-11T>G rs766096022 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.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.3963T>C (p.Ala1321=) rs1057523548 0.00001
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys) rs149522780 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.4011+8A>C rs781175426 0.00001
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser) rs752777683 0.00001
NM_000090.4(COL3A1):c.405T>C (p.Pro135=) rs777238997 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.4100A>G (p.Asn1367Ser) rs746580509 0.00001
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg) rs775951025 0.00001
NM_000090.4(COL3A1):c.414T>G (p.Pro138=) rs1454063115 0.00001
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204 0.00001
NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=) rs527694833 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.4224C>T (p.Phe1408=) rs549672243 0.00001
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met) rs1012915558 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 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.4357G>A (p.Asp1453Asn) rs1131691353 0.00001
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met) rs751427069 0.00001
NM_000090.4(COL3A1):c.448-19A>G rs370705517 0.00001
NM_000090.4(COL3A1):c.448-5C>T rs372900736 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.508G>A (p.Ala170Thr) rs374476865 0.00001
NM_000090.4(COL3A1):c.50A>T (p.His17Leu) rs1311785540 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 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.567T>C (p.Gly189=) rs946410316 0.00001
NM_000090.4(COL3A1):c.582+16G>A rs775731382 0.00001
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) rs751350498 0.00001
NM_000090.4(COL3A1):c.621G>A (p.Gly207=) rs779352711 0.00001
NM_000090.4(COL3A1):c.637-15T>C rs747387258 0.00001
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser) rs1325737333 0.00001
NM_000090.4(COL3A1):c.669A>T (p.Pro223=) rs1034042392 0.00001
NM_000090.4(COL3A1):c.690+3A>G rs1447080385 0.00001
NM_000090.4(COL3A1):c.690+9T>C rs370451250 0.00001
NM_000090.4(COL3A1):c.691-9T>C rs777795873 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.724C>T (p.Arg242Ter) rs1333421028 0.00001
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln) rs372025063 0.00001
NM_000090.4(COL3A1):c.744+15T>C rs755509342 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.752A>G (p.Lys251Arg) rs151148197 0.00001
NM_000090.4(COL3A1):c.759A>G (p.Pro253=) rs376198106 0.00001
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser) rs1688161034 0.00001
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr) rs772713162 0.00001
NM_000090.4(COL3A1):c.79+10T>C rs747389214 0.00001
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) rs113304344 0.00001
NM_000090.4(COL3A1):c.80-13A>C rs566189676 0.00001
NM_000090.4(COL3A1):c.80-8T>C rs1241543816 0.00001
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser) rs1318892403 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.852+2T>C rs201314784 0.00001
NM_000090.4(COL3A1):c.853-20C>G rs773768258 0.00001
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys) rs1333066574 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+10T>C rs375595216 0.00001
NM_000090.4(COL3A1):c.897+16dup rs748754773 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.945G>A (p.Gly315=) rs372206736 0.00001
NM_000090.4(COL3A1):c.952-18G>A rs996947690 0.00001
NM_000090.4(COL3A1):c.962G>T (p.Gly321Val) rs587779588 0.00001
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) rs1229792348 0.00001
COL3A1, GLY373ARG
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189839216)_(189839314_?)del
NC_000002.11:g.(?_189852801)_(189855789_?)dup
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NC_000002.11:g.(?_189856193)_(189856974_?)del
NC_000002.11:g.(?_189860831)_(189861242_?)dup
NC_000002.11:g.(?_189860841)_(189861232_?)del
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer) rs587779510
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]
NM_000090.4(COL3A1):c.*113C>T rs886055336
NM_000090.4(COL3A1):c.*317C>A rs886055337
NM_000090.4(COL3A1):c.*325C>A rs886055338
NM_000090.4(COL3A1):c.*354C>T rs41265555
NM_000090.4(COL3A1):c.*370A>G rs886055339
NM_000090.4(COL3A1):c.*371G>T rs886055340
NM_000090.4(COL3A1):c.*413T>A rs1027214857
NM_000090.4(COL3A1):c.*508T>C rs1688745206
NM_000090.4(COL3A1):c.*600G>T rs1688747004
NM_000090.4(COL3A1):c.*625C>T rs886055342
NM_000090.4(COL3A1):c.*692G>A rs886055343
NM_000090.4(COL3A1):c.*906C>G rs1306575962
NM_000090.4(COL3A1):c.*947C>T rs886055345
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.1013C>T (p.Pro338Leu) rs2153502229
NM_000090.4(COL3A1):c.1017A>T (p.Gly339=)
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp) rs1688217809
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1029C>G (p.Phe343Leu) rs1688218053
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=) rs1688218162
NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg) rs587779419
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile) rs368703012
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala) rs1688218490
NM_000090.4(COL3A1):c.1050+12T>G
NM_000090.4(COL3A1):c.1050+7A>G rs950435405
NM_000090.4(COL3A1):c.1051-14G>C
NM_000090.4(COL3A1):c.1051-1G>C rs866316633
NM_000090.4(COL3A1):c.1051-8A>G
NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser) rs2153502271
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile) rs1688228735
NM_000090.4(COL3A1):c.1058T>C (p.Val353Ala)
NM_000090.4(COL3A1):c.1064C>A (p.Pro355His)
NM_000090.4(COL3A1):c.1068A>G (p.Ala356=) rs2153502276
NM_000090.4(COL3A1):c.1069_1070insACCCTGCAG (p.Ala356_Gly357insAspProAla) rs587779579
NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu) rs2153502277
NM_000090.4(COL3A1):c.1072T>C (p.Ser358Pro)
NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val)
NM_000090.4(COL3A1):c.1086T>C (p.Asn362=) rs1576464711
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser) rs587779499
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.1094C>G (p.Pro365Arg) rs1464219199
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=)
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.4(COL3A1):c.109C>G (p.Gln37Glu)
NM_000090.4(COL3A1):c.1100_1117del (p.Gln367_Gly372del) rs587779525
NM_000090.4(COL3A1):c.1103G>C (p.Arg368Thr)
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del) rs587779686
NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg) rs868138294
NM_000090.4(COL3A1):c.1108G>A (p.Glu370Lys)
NM_000090.4(COL3A1):c.1108G>C (p.Glu370Gln)
NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.4(COL3A1):c.1111C>A (p.Pro371Thr)
NM_000090.4(COL3A1):c.1115G>T (p.Gly372Val) rs587779547
NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla)
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=)
NM_000090.4(COL3A1):c.111G>C (p.Gln37His) rs2153501346
NM_000090.4(COL3A1):c.1124G>A (p.Gly375Glu) rs587779569
NM_000090.4(COL3A1):c.1128C>A (p.His376Gln)
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp) rs1688231067
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg) rs1688231206
NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp) rs587779544
NM_000090.4(COL3A1):c.1149+11T>C
NM_000090.4(COL3A1):c.1149+1G>A rs587779443
NM_000090.4(COL3A1):c.1149+1G>T rs587779443
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.1149+7A>G rs1688231707
NM_000090.4(COL3A1):c.114C>T (p.Ser38=) rs141241764
NM_000090.4(COL3A1):c.1150-10G>T
NM_000090.4(COL3A1):c.1150-11del
NM_000090.4(COL3A1):c.1150-1G>C rs587779520
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC rs587779612
NM_000090.4(COL3A1):c.1150-4T>C
NM_000090.4(COL3A1):c.1150-5C>T
NM_000090.4(COL3A1):c.1150-8A>G
NM_000090.4(COL3A1):c.1150-9TA[3]
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)
NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp)
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=) rs1688243975
NM_000090.4(COL3A1):c.1154C>T (p.Pro385Leu)
NM_000090.4(COL3A1):c.1158T>C (p.Pro386=)
NM_000090.4(COL3A1):c.1161G>A (p.Gly387=) rs2153502344
NM_000090.4(COL3A1):c.1164T>C (p.Ile388=) rs2153502345
NM_000090.4(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.4(COL3A1):c.1179T>C (p.Gly393=)
NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter) rs187907868
NM_000090.4(COL3A1):c.1189_1194+23del rs587779430
NM_000090.4(COL3A1):c.1194+15C>G
NM_000090.4(COL3A1):c.1194+16T>G
NM_000090.4(COL3A1):c.1194+1G>A rs587779459
NM_000090.4(COL3A1):c.1194+1G>C rs587779459
NM_000090.4(COL3A1):c.1195-13G>A
NM_000090.4(COL3A1):c.1195-20T>G
NM_000090.4(COL3A1):c.1195-5C>T
NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.4(COL3A1):c.1197T>A (p.Gly399=)
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.1213G>A (p.Gly405Arg)
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val) rs794728043
NM_000090.4(COL3A1):c.1224A>C (p.Gly408=) rs2153502371
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val) rs1026603456
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1234G>A (p.Ala412Thr)
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp)
NM_000090.4(COL3A1):c.1239G>A (p.Arg413=) rs769162177
NM_000090.4(COL3A1):c.123T>C (p.Asp41=) rs770961095
NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser)
NM_000090.4(COL3A1):c.1240G>T (p.Gly414Cys) rs587779485
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His) rs1408351089
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg) rs587779637
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg) rs587779637
NM_000090.4(COL3A1):c.1254A>G (p.Pro418=) rs2153502381
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=)
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp) rs1688252085
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp) rs587779586
NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser)
NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu) rs2153502383
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=) rs750476636
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) rs1576465155
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser) rs1559056179
NM_000090.4(COL3A1):c.1287T>C (p.Gly429=)
NM_000090.4(COL3A1):c.1293+13G>C
NM_000090.4(COL3A1):c.1293+19T>A
NM_000090.4(COL3A1):c.1294-12G>A
NM_000090.4(COL3A1):c.1294-12G>T
NM_000090.4(COL3A1):c.1294-13del
NM_000090.4(COL3A1):c.1294-1G>C rs1060500204
NM_000090.4(COL3A1):c.1294-3T>G rs587779496
NM_000090.4(COL3A1):c.1294-8T>A
NM_000090.4(COL3A1):c.1294-8_1294-2dup rs1688258466
NM_000090.4(COL3A1):c.1294-9A>G
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp) rs1688258933
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp)
NM_000090.4(COL3A1):c.1311T>C (p.Asn437=)
NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp) rs2153502405
NM_000090.4(COL3A1):c.1316C>T (p.Ala439Val)
NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg)
NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu) rs2153502406
NM_000090.4(COL3A1):c.1324G>C (p.Glu442Gln)
NM_000090.4(COL3A1):c.1329C>A (p.Pro443=) rs527291598
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=) rs527291598
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg) rs587779489
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu) rs1243746897
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.4(COL3A1):c.1336C>T (p.Arg446Cys) rs1238066761
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)
NM_000090.4(COL3A1):c.1347+10A>T
NM_000090.4(COL3A1):c.1347+11C>G rs2153502413
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1347+1G>T rs397509370
NM_000090.4(COL3A1):c.1347+3A>C rs587779453
NM_000090.4(COL3A1):c.1347+5G>C rs587779721
NM_000090.4(COL3A1):c.1347C>G (p.Arg449=)
NM_000090.4(COL3A1):c.1348-10T>G rs2153502430
NM_000090.4(COL3A1):c.1348-11T>C rs1334349221
NM_000090.4(COL3A1):c.1348-15T>A
NM_000090.4(COL3A1):c.1348-16del
NM_000090.4(COL3A1):c.1348-2A>G
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.1348-4dup rs758567906
NM_000090.4(COL3A1):c.1348-5T>C rs2153502431
NM_000090.4(COL3A1):c.1348-5_1348-4del rs758567906
NM_000090.4(COL3A1):c.1348-5_1348-4dup
NM_000090.4(COL3A1):c.1348-8T>A
NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser)
NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys) rs2153502433
NM_000090.4(COL3A1):c.1358G>A (p.Gly453Asp) rs587779621
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=) rs1232746183
NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser)
NM_000090.4(COL3A1):c.1383A>G (p.Lys461=) rs2153502436
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1386C>T (p.Gly462=)
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys) rs2153502439
NM_000090.4(COL3A1):c.1389A>C (p.Glu463Asp)
NM_000090.4(COL3A1):c.1405T>A (p.Ser469Thr)
NM_000090.4(COL3A1):c.1410del (p.Gly471fs) rs587779665
NM_000090.4(COL3A1):c.1412G>A (p.Gly471Glu)
NM_000090.4(COL3A1):c.1416A>G (p.Glu472=)
NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp)
NM_000090.4(COL3A1):c.1425A>T (p.Ala475=)
NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp) rs2153502447
NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu) rs2153502448
NM_000090.4(COL3A1):c.1435C>G (p.Pro479Ala)
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser) rs1425504057
NM_000090.4(COL3A1):c.1438G>A (p.Gly480Arg)
NM_000090.4(COL3A1):c.1442del (p.Ala481fs) rs1688268302
NM_000090.4(COL3A1):c.1443T>C (p.Ala481=)
NM_000090.4(COL3A1):c.1445C>A (p.Ala482Glu)
NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp)
NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys)
NM_000090.4(COL3A1):c.1455+12A>C
NM_000090.4(COL3A1):c.1455+12A>T
NM_000090.4(COL3A1):c.1455+18C>A
NM_000090.4(COL3A1):c.1455+4C>T rs1422454033
NM_000090.4(COL3A1):c.1455+5G>A rs774425143
NM_000090.4(COL3A1):c.1456-10T>G rs587779701
NM_000090.4(COL3A1):c.1456-13_1499del rs1553508025
NM_000090.4(COL3A1):c.1456-15T>G rs1688273707
NM_000090.4(COL3A1):c.1456-16C>G rs748670622
NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp) rs1688274077
NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala) rs1234344050
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=) rs747522483
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.4(COL3A1):c.1470C>T (p.Phe490=)
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.1475G>A (p.Gly492Glu) rs587779500
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val) rs587779500
NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.4(COL3A1):c.1486C>T (p.Pro496Ser)
NM_000090.4(COL3A1):c.1489A>G (p.Asn497Asp)
NM_000090.4(COL3A1):c.1491T>C (p.Asn497=)
NM_000090.4(COL3A1):c.149G>C (p.Cys50Ser)
NM_000090.4(COL3A1):c.1500A>G (p.Pro500=)
NM_000090.4(COL3A1):c.1501G>A (p.Gly501Arg) rs587779523
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.4(COL3A1):c.1505A>G (p.Glu502Gly)
NM_000090.4(COL3A1):c.1509+18C>A
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter)
NM_000090.4(COL3A1):c.1511G>T (p.Gly504Val) rs587779632
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.1536A>C (p.Pro512=) rs975159988
NM_000090.4(COL3A1):c.153A>G (p.Gln51=)
NM_000090.4(COL3A1):c.1541C>A (p.Pro514His)
NM_000090.4(COL3A1):c.1548G>A (p.Gly516=) rs765885725
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs) rs2153502552
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.1556G>A (p.Gly519Glu) rs587779693
NM_000090.4(COL3A1):c.156A>G (p.Ile52Met)
NM_000090.4(COL3A1):c.1577G>A (p.Arg526Lys)
NM_000090.4(COL3A1):c.1587C>T (p.Val529=) rs1688293092
NM_000090.4(COL3A1):c.1590T>C (p.Pro530=) rs1688293277
NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala)
NM_000090.4(COL3A1):c.1602A>C (p.Gly534=)
NM_000090.4(COL3A1):c.1608+12C>T
NM_000090.4(COL3A1):c.1608+13A>G
NM_000090.4(COL3A1):c.1608+20T>G
NM_000090.4(COL3A1):c.1608+4C>T
NM_000090.4(COL3A1):c.1608+6G>C rs1688293957
NM_000090.4(COL3A1):c.1609-10T>C rs762824449
NM_000090.4(COL3A1):c.1609-14C>G rs1243909889
NM_000090.4(COL3A1):c.1609-2A>C rs2153502611
NM_000090.4(COL3A1):c.1617C>A (p.Pro539=) rs141091206
NM_000090.4(COL3A1):c.1617C>G (p.Pro539=) rs141091206
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1624C>A (p.Pro542Thr)
NM_000090.4(COL3A1):c.1636G>A (p.Gly546Arg)
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.4(COL3A1):c.1651C>A (p.Pro551Thr)
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg) rs868705044
NM_000090.4(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg) rs1688305296
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.4(COL3A1):c.1656G>T (p.Gly552=)
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+14T>A rs910613076
NM_000090.4(COL3A1):c.1662+16A>C
NM_000090.4(COL3A1):c.1662+1G>A rs587779535
NM_000090.4(COL3A1):c.1662+1G>C rs587779535
NM_000090.4(COL3A1):c.1662+1G>T rs587779535
NM_000090.4(COL3A1):c.1662+20C>A
NM_000090.4(COL3A1):c.1662+2dup rs587779537
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.1663-13T>G
NM_000090.4(COL3A1):c.1663-15A>C rs2153502677
NM_000090.4(COL3A1):c.1663-19T>A
NM_000090.4(COL3A1):c.1663-19T>C
NM_000090.4(COL3A1):c.1663-1G>A rs749145939
NM_000090.4(COL3A1):c.1663-1G>T
NM_000090.4(COL3A1):c.1663-4T>C
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA rs200204993
NM_000090.4(COL3A1):c.1663-9del rs770372880
NM_000090.4(COL3A1):c.1663G>A (p.Gly555Arg)
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn) rs1688319466
NM_000090.4(COL3A1):c.1667G>T (p.Ser556Ile)
NM_000090.4(COL3A1):c.1668T>G (p.Ser556Arg) rs1688319570
NM_000090.4(COL3A1):c.166G>A (p.Asp56Asn)
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp)
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs)
NM_000090.4(COL3A1):c.1697C>G (p.Pro566Arg)
NM_000090.4(COL3A1):c.1701G>T (p.Gly567=)
NM_000090.4(COL3A1):c.1706C>G (p.Ser569Cys)
NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp) rs2153502685
NM_000090.4(COL3A1):c.1712C>T (p.Pro571Leu)
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
NM_000090.4(COL3A1):c.1718G>A (p.Gly573Asp)
NM_000090.4(COL3A1):c.1725T>G (p.Pro575=)
NM_000090.4(COL3A1):c.1728T>G (p.Gly576=)
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)
NM_000090.4(COL3A1):c.1740C>T (p.Phe580=) rs2153502690
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg) rs121912923
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp) rs1688322272
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.1761+13A>G
NM_000090.4(COL3A1):c.1761+15_1870-100del
NM_000090.4(COL3A1):c.1761+16A>G rs368540657
NM_000090.4(COL3A1):c.1761+1G>A rs1688322811
NM_000090.4(COL3A1):c.1761+2T>C rs587779530
NM_000090.4(COL3A1):c.1761+2T>G rs587779530
NM_000090.4(COL3A1):c.1761+4_1761+5del rs1559057346
NM_000090.4(COL3A1):c.1761+5G>A rs397509372
NM_000090.4(COL3A1):c.1761+5G>T rs397509372
NM_000090.4(COL3A1):c.1761+7T>A
NM_000090.4(COL3A1):c.1761+8C>T
NM_000090.4(COL3A1):c.1761+9C>G
NM_000090.4(COL3A1):c.1761T>A (p.Asp587Glu)
NM_000090.4(COL3A1):c.1762-11T>G rs761637298
NM_000090.4(COL3A1):c.1762-12C>T
NM_000090.4(COL3A1):c.1762-12CTT[2]
NM_000090.4(COL3A1):c.1762-12CTT[5]
NM_000090.4(COL3A1):c.1762-13A>G rs776161087
NM_000090.4(COL3A1):c.1762-14C>T
NM_000090.4(COL3A1):c.1762-16A>G
NM_000090.4(COL3A1):c.1762-18C>T
NM_000090.4(COL3A1):c.1762-1G>T
NM_000090.4(COL3A1):c.1762-2A>G rs587779722
NM_000090.4(COL3A1):c.1762-3T>C
NM_000090.4(COL3A1):c.1762-6C>T rs2153502785
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val) rs587779691
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr) rs1327158014
NM_000090.4(COL3A1):c.1765G>T (p.Ala589Ser)
NM_000090.4(COL3A1):c.1771G>T (p.Gly591Cys)
NM_000090.4(COL3A1):c.1773dup (p.Lys592Ter) rs587779608
NM_000090.4(COL3A1):c.1778A>T (p.Asn593Ile)
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.4(COL3A1):c.1789G>A (p.Gly597Ser)
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.1806T>A (p.Pro602=) rs2153502789
NM_000090.4(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val) rs587779477
NM_000090.4(COL3A1):c.1808del (p.Gly603fs) rs587779594
NM_000090.4(COL3A1):c.1815+6T>C rs1688347657
NM_000090.4(COL3A1):c.1816-14G>A rs7579815
NM_000090.4(COL3A1):c.1816-15T>G
NM_000090.4(COL3A1):c.1816-17A>T
NM_000090.4(COL3A1):c.1816-2A>G
NM_000090.4(COL3A1):c.1816G>C (p.Gly606Arg) rs587779613
NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys)
NM_000090.4(COL3A1):c.181del (p.Leu61fs) rs2153501353
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu)
NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs) rs587779462
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser) rs2153502803
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=) rs1576467117
NM_000090.4(COL3A1):c.1840A>G (p.Thr614Ala)
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla) rs1576467133
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
NM_000090.4(COL3A1):c.1857C>T (p.Pro619=)
NM_000090.4(COL3A1):c.1859del (p.Pro620fs) rs1576467144
NM_000090.4(COL3A1):c.1860A>G (p.Pro620=) rs141128796
NM_000090.4(COL3A1):c.1861G>C (p.Gly621Arg) rs587779616
NM_000090.4(COL3A1):c.1861G>T (p.Gly621Trp) rs587779616
NM_000090.4(COL3A1):c.1862G>A (p.Gly621Glu) rs587779539
NM_000090.4(COL3A1):c.1862G>T (p.Gly621Val) rs587779539
NM_000090.4(COL3A1):c.1863G>A (p.Gly621=)
NM_000090.4(COL3A1):c.1865C>T (p.Pro622Leu)
NM_000090.4(COL3A1):c.1867A>G (p.Thr623Ala)
NM_000090.4(COL3A1):c.1869+13A>T
NM_000090.4(COL3A1):c.1869+1G>C rs587779600
NM_000090.4(COL3A1):c.1869+3A>C rs1576467168
NM_000090.4(COL3A1):c.1869+4A>G
NM_000090.4(COL3A1):c.1869+5G>A rs397509376
NM_000090.4(COL3A1):c.1869+5G>T rs397509376
NM_000090.4(COL3A1):c.1869+9A>C
NM_000090.4(COL3A1):c.1870-12A>G rs1231508385
NM_000090.4(COL3A1):c.1870-13_1870-11del rs1312775368
NM_000090.4(COL3A1):c.1870-18A>G rs2153502834
NM_000090.4(COL3A1):c.1870-20G>A
NM_000090.4(COL3A1):c.1870-2A>G rs587779575
NM_000090.4(COL3A1):c.1870-2A>T rs587779575
NM_000090.4(COL3A1):c.1870-9C>T rs777339506
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) rs1553508463
NM_000090.4(COL3A1):c.1872G>C (p.Gly624=)
NM_000090.4(COL3A1):c.1873C>G (p.Pro625Ala)
NM_000090.4(COL3A1):c.1878T>A (p.Gly626=)
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn) rs1688031625
NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
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.1897G>A (p.Gly633Arg) rs1553508473
NM_000090.4(COL3A1):c.1898G>A (p.Gly633Glu) rs587779611
NM_000090.4(COL3A1):c.18A>C (p.Gln6His)
NM_000090.4(COL3A1):c.1900C>A (p.Pro634Thr)
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser) rs762129273
NM_000090.4(COL3A1):c.1905T>C (p.Pro635=)
NM_000090.4(COL3A1):c.1905del (p.Gly636fs)
NM_000090.4(COL3A1):c.1906G>C (p.Gly636Arg) rs587779522
NM_000090.4(COL3A1):c.1910C>T (p.Pro637Leu)
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs) rs1576467391
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu) rs587779421
NM_000090.4(COL3A1):c.1923+1G>A rs587779573
NM_000090.4(COL3A1):c.1923+1G>C rs587779573
NM_000090.4(COL3A1):c.1923+2_1923+5del rs786200946
NM_000090.4(COL3A1):c.1923+9T>C
NM_000090.4(COL3A1):c.1924-13_1924-2del
NM_000090.4(COL3A1):c.1924-14A>T
NM_000090.4(COL3A1):c.1924-8C>A rs1553508534
NM_000090.4(COL3A1):c.1925G>T (p.Gly642Val) rs587779661
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=)
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val) rs1440480352
NM_000090.4(COL3A1):c.1957A>C (p.Asn653His)
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.4(COL3A1):c.1967C>G (p.Pro656Arg)
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) rs2153501357
NM_000090.4(COL3A1):c.1970G>A (p.Gly657Glu) rs587779699
NM_000090.4(COL3A1):c.1971G>A (p.Gly657=)
NM_000090.4(COL3A1):c.1974A>G (p.Glu658=)
NM_000090.4(COL3A1):c.1974_1977+4del rs587779475
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.4(COL3A1):c.1976C>A (p.Pro659Gln)
NM_000090.4(COL3A1):c.1977+16T>A
NM_000090.4(COL3A1):c.1977+2T>G rs587779603
NM_000090.4(COL3A1):c.1977+5G>C rs1553508544
NM_000090.4(COL3A1):c.1977+7T>C rs2153502908
NM_000090.4(COL3A1):c.1977+9C>G rs184223621
NM_000090.4(COL3A1):c.1978-18A>G
NM_000090.4(COL3A1):c.1978-4C>T
NM_000090.4(COL3A1):c.1978-6_1981del rs587779700
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser) rs1688384382
NM_000090.4(COL3A1):c.1978G>C (p.Gly660Arg)
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp) rs587779493
NM_000090.4(COL3A1):c.197T>G (p.Ile66Arg)
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.1980T>C (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg) rs587779433
NM_000090.4(COL3A1):c.1988G>A (p.Gly663Asp) rs587779454
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
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.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2020A>G (p.Lys674Glu)
NM_000090.4(COL3A1):c.2021A>G (p.Lys674Arg)
NM_000090.4(COL3A1):c.2022+10C>G
NM_000090.4(COL3A1):c.2022+10C>T rs774439359
NM_000090.4(COL3A1):c.2022+14T>A
NM_000090.4(COL3A1):c.2022+17T>C
NM_000090.4(COL3A1):c.2022+19del
NM_000090.4(COL3A1):c.2022+2T>C rs587779429
NM_000090.4(COL3A1):c.2022+4G>A rs886038865
NM_000090.4(COL3A1):c.2022G>A (p.Lys674=) rs587779643
NM_000090.4(COL3A1):c.2022G>T (p.Lys674Asn) rs587779643
NM_000090.4(COL3A1):c.2023-17A>C
NM_000090.4(COL3A1):c.2023-17A>G
NM_000090.4(COL3A1):c.2023-1G>A rs587779708
NM_000090.4(COL3A1):c.2023-4A>G
NM_000090.4(COL3A1):c.2023G>A (p.Gly675Ser) rs2153502988
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
NM_000090.4(COL3A1):c.2030C>G (p.Ala677Gly) rs2153502991
NM_000090.4(COL3A1):c.2032G>C (p.Gly678Arg)
NM_000090.4(COL3A1):c.2034T>C (p.Gly678=)
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp) rs1173194734
NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys) rs2153502995
NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu) rs587779587
NM_000090.4(COL3A1):c.2051G>T (p.Gly684Val) rs587779587
NM_000090.4(COL3A1):c.2053C>T (p.Pro685Ser)
NM_000090.4(COL3A1):c.2059G>C (p.Gly687Arg) rs587779577
NM_000090.4(COL3A1):c.205G>C (p.Asp69His)
NM_000090.4(COL3A1):c.2060G>C (p.Gly687Ala)
NM_000090.4(COL3A1):c.2062T>A (p.Leu688Met)
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del) rs1576468160
NM_000090.4(COL3A1):c.2068G>A (p.Gly690Arg) rs587779474
NM_000090.4(COL3A1):c.2069G>T (p.Gly690Val) rs587779458
NM_000090.4(COL3A1):c.2070G>A (p.Gly690=) rs1337071262
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.2078G>A (p.Gly693Glu)
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val) rs587779442
NM_000090.4(COL3A1):c.2079A>T (p.Gly693=)
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
NM_000090.4(COL3A1):c.2085A>G (p.Arg695=)
NM_000090.4(COL3A1):c.2087G>A (p.Gly696Asp) rs587779591
NM_000090.4(COL3A1):c.2095G>C (p.Gly699Arg) rs587779668
NM_000090.4(COL3A1):c.2095G>T (p.Gly699Cys)
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
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.2103T>C (p.Pro701=) rs1688401379
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser)
NM_000090.4(COL3A1):c.2105G>A (p.Gly702Asp) rs587779512
NM_000090.4(COL3A1):c.2105G>C (p.Gly702Ala) rs587779512
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
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.2113G>A (p.Gly705Arg) rs587779623
NM_000090.4(COL3A1):c.2114G>A (p.Gly705Glu) rs587779460
NM_000090.4(COL3A1):c.2115A>T (p.Gly705=)
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu) rs1688402397
NM_000090.4(COL3A1):c.2119_2121+11del rs2153503009
NM_000090.4(COL3A1):c.2121+13C>T
NM_000090.4(COL3A1):c.2121+1G>C rs587779675
NM_000090.4(COL3A1):c.2121+4del rs1688402573
NM_000090.4(COL3A1):c.2122-11C>G
NM_000090.4(COL3A1):c.2122-19A>G
NM_000090.4(COL3A1):c.2122-3C>T
NM_000090.4(COL3A1):c.2122-9T>A
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.4(COL3A1):c.2126C>A (p.Ala709Asp)
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.4(COL3A1):c.2134_2160del (p.Pro712_Gly720del) rs587779560
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu) rs780028064
NM_000090.4(COL3A1):c.2138C>T (p.Pro713Leu)
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.4(COL3A1):c.2141G>A (p.Gly714Glu) rs587779678
NM_000090.4(COL3A1):c.2142G>A (p.Gly714=)
NM_000090.4(COL3A1):c.2142_2168del (p.Pro715_Gly723del) rs587779657
NM_000090.4(COL3A1):c.2146C>T (p.Pro716Ser)
NM_000090.4(COL3A1):c.2149G>C (p.Gly717Arg)
NM_000090.4(COL3A1):c.2150G>A (p.Gly717Asp) rs587779549
NM_000090.4(COL3A1):c.2152G>T (p.Ala718Ser)
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe) rs2153503026
NM_000090.4(COL3A1):c.2153C>T (p.Ala718Val)
NM_000090.4(COL3A1):c.2155G>A (p.Ala719Thr)
NM_000090.4(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp) rs1576468332
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.4(COL3A1):c.2177G>A (p.Gly726Glu) rs587779698
NM_000090.4(COL3A1):c.2185G>A (p.Gly729Arg) rs587779543
NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu) rs587779680
NM_000090.4(COL3A1):c.2186G>C (p.Gly729Ala)
NM_000090.4(COL3A1):c.2188G>C (p.Glu730Gln)
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter)
NM_000090.4(COL3A1):c.218A>G (p.Asp73Gly)
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.4(COL3A1):c.2199T>C (p.Gly733=) rs762547633
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg) rs587779484
NM_000090.4(COL3A1):c.2205A>C (p.Gly735=)
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.4(COL3A1):c.2212G>T (p.Gly738Cys) rs121912925
NM_000090.4(COL3A1):c.2213G>T (p.Gly738Val) rs587779615
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474
NM_000090.4(COL3A1):c.2224G>T (p.Asp742Tyr)
NM_000090.4(COL3A1):c.2226C>A (p.Asp742Glu)
NM_000090.4(COL3A1):c.2229+10T>C
NM_000090.4(COL3A1):c.2229+1G>A rs1576468385
NM_000090.4(COL3A1):c.222C>T (p.Cys74=) rs1688032683
NM_000090.4(COL3A1):c.2230-18T>A
NM_000090.4(COL3A1):c.2230-18T>C
NM_000090.4(COL3A1):c.2230-5G>A rs74458631
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg) rs2153503061
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
NM_000090.4(COL3A1):c.2231G>T (p.Gly744Val) rs587779697
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
NM_000090.4(COL3A1):c.2236C>T (p.Pro746Ser)
NM_000090.4(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp) rs1688417659
NM_000090.4(COL3A1):c.2241C>A (p.Gly747=)
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg) rs1688418367
NM_000090.4(COL3A1):c.2253T>C (p.Ala751=)
NM_000090.4(COL3A1):c.2255A>G (p.Asp752Gly)
NM_000090.4(COL3A1):c.2257G>T (p.Gly753Cys) rs2153503066
NM_000090.4(COL3A1):c.225C>A (p.Pro75=) rs141335164
NM_000090.4(COL3A1):c.2261T>A (p.Val754Asp) rs200390941
NM_000090.4(COL3A1):c.2262C>T (p.Val754=)
NM_000090.4(COL3A1):c.2265A>G (p.Pro755=) rs1576468557
NM_000090.4(COL3A1):c.2266G>A (p.Gly756Arg)
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2268G>A (p.Gly756=)
NM_000090.4(COL3A1):c.2269A>G (p.Lys757Glu)
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly) rs2153503070
NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp) rs587779418
NM_000090.4(COL3A1):c.2282G>A (p.Arg761Lys)
NM_000090.4(COL3A1):c.2283+12C>T
NM_000090.4(COL3A1):c.2283+15T>C
NM_000090.4(COL3A1):c.2283+17A>T
NM_000090.4(COL3A1):c.2283+1G>A rs1559058970
NM_000090.4(COL3A1):c.2283+5G>A
NM_000090.4(COL3A1):c.2283+8T>A
NM_000090.4(COL3A1):c.2283+9T>A
NM_000090.4(COL3A1):c.2284-15T>A
NM_000090.4(COL3A1):c.2284-17A>G
NM_000090.4(COL3A1):c.2284-2A>G rs587779558
NM_000090.4(COL3A1):c.2284-4C>G rs1576469212
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser) rs587779694
NM_000090.4(COL3A1):c.2284G>C (p.Gly762Arg) rs587779694
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp) rs587779541
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.4(COL3A1):c.2293G>A (p.Gly765Ser) rs587779630
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.4(COL3A1):c.2296C>G (p.Pro766Ala)
NM_000090.4(COL3A1):c.2298T>G (p.Pro766=) rs1278002435
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.2301T>C (p.Ile767=) rs1559059510
NM_000090.4(COL3A1):c.2302G>C (p.Gly768Arg)
NM_000090.4(COL3A1):c.2304T>C (p.Gly768=)
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del) rs2153503227
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.4(COL3A1):c.2319T>C (p.Ala773=) rs2153503232
NM_000090.4(COL3A1):c.2321G>A (p.Gly774Asp)
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu)
NM_000090.4(COL3A1):c.2337+15T>C
NM_000090.4(COL3A1):c.2337+1G>A rs587779663
NM_000090.4(COL3A1):c.2337+2T>C rs587779513
NM_000090.4(COL3A1):c.2337+7C>A rs1060503874
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn)
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu) rs2153500011
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser) rs1576460785
NM_000090.4(COL3A1):c.2446-10T>A
NM_000090.4(COL3A1):c.2446-12T>C
NM_000090.4(COL3A1):c.2446-15T>A
NM_000090.4(COL3A1):c.2446-3T>C
NM_000090.4(COL3A1):c.2446-5T>C
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp) rs2153503368
NM_000090.4(COL3A1):c.2457T>C (p.Gly819=) rs2153503369
NM_000090.4(COL3A1):c.2458G>A (p.Glu820Lys)
NM_000090.4(COL3A1):c.2462C>T (p.Pro821Leu)
NM_000090.4(COL3A1):c.2482G>T (p.Gly828Trp) rs587779486
NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu)
NM_000090.4(COL3A1):c.2484G>T (p.Gly828=)
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter) rs1460396340
NM_000090.4(COL3A1):c.2498A>T (p.Lys833Ile)
NM_000090.4(COL3A1):c.2499A>G (p.Lys833=)
NM_000090.4(COL3A1):c.24G>A (p.Gly8=) rs754759981
NM_000090.4(COL3A1):c.24G>C (p.Gly8=)
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg) rs2153503381
NM_000090.4(COL3A1):c.2501G>A (p.Gly834Asp) rs587779642
NM_000090.4(COL3A1):c.2501G>C (p.Gly834Ala) rs587779642
NM_000090.4(COL3A1):c.2503G>C (p.Glu835Gln)
NM_000090.4(COL3A1):c.2507G>A (p.Gly836Glu)
NM_000090.4(COL3A1):c.2510G>A (p.Gly837Asp) rs587779526
NM_000090.4(COL3A1):c.2511C>T (p.Gly837=)
NM_000090.4(COL3A1):c.2515C>T (p.Pro839Ser)
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>A (p.Pro844Thr)
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala) rs780490668
NM_000090.4(COL3A1):c.2533C>A (p.Pro845Thr)
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs) rs587779653
NM_000090.4(COL3A1):c.253T>C (p.Cys85Arg)
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val) rs1336654706
NM_000090.4(COL3A1):c.2541T>C (p.Gly847=)
NM_000090.4(COL3A1):c.2544T>C (p.Ser848=)
NM_000090.4(COL3A1):c.2547A>G (p.Gly849=) rs2153503385
NM_000090.4(COL3A1):c.2553+11T>C rs1237495499
NM_000090.4(COL3A1):c.2553+17_2553+22del
NM_000090.4(COL3A1):c.2553+1G>A rs587779664
NM_000090.4(COL3A1):c.2553+1G>C rs587779664
NM_000090.4(COL3A1):c.2553+1del rs587779514
NM_000090.4(COL3A1):c.2553+21_2553+22del
NM_000090.4(COL3A1):c.2553+23_2553+26del rs982921278
NM_000090.4(COL3A1):c.2553+2T>C rs587779684
NM_000090.4(COL3A1):c.2553+3A>T rs587779713
NM_000090.4(COL3A1):c.2553+5G>T rs397509371
NM_000090.4(COL3A1):c.2554-10T>C
NM_000090.4(COL3A1):c.2554-11A>G
NM_000090.4(COL3A1):c.2554-14T>A
NM_000090.4(COL3A1):c.2554-1G>A rs587779519
NM_000090.4(COL3A1):c.2554-2A>G
NM_000090.4(COL3A1):c.2554-6A>G rs1688514197
NM_000090.4(COL3A1):c.2554-6A>T
NM_000090.4(COL3A1):c.2554G>T (p.Gly852Cys) rs587779690
NM_000090.4(COL3A1):c.2555G>A (p.Gly852Asp) rs587779494
NM_000090.4(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer) rs1135402747
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys) rs2153503430
NM_000090.4(COL3A1):c.2564G>A (p.Gly855Asp) rs587779466
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.4(COL3A1):c.2573G>T (p.Gly858Val) rs587779717
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile)
NM_000090.4(COL3A1):c.257C>T (p.Ala86Val)
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.258A>T (p.Ala86=) rs775636888
NM_000090.4(COL3A1):c.2593A>G (p.Ser865Gly)
NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp) rs587779417
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
NM_000090.4(COL3A1):c.2604A>T (p.Gly868=) rs1688516007
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.2607+16C>G
NM_000090.4(COL3A1):c.2607+19A>C
NM_000090.4(COL3A1):c.2607+5G>A rs587779457
NM_000090.4(COL3A1):c.2607+5G>T rs587779457
NM_000090.4(COL3A1):c.2608-16_2608-12del
NM_000090.4(COL3A1):c.2610T>C (p.Gly870=) rs1474368726
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro) rs1475390693
NM_000090.4(COL3A1):c.2622C>T (p.Phe874=)
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser) rs761222859
NM_000090.4(COL3A1):c.2628T>C (p.Gly876=)
NM_000090.4(COL3A1):c.2631T>C (p.Ala877=)
NM_000090.4(COL3A1):c.2632C>T (p.Arg878Cys)
NM_000090.4(COL3A1):c.2633G>T (p.Arg878Leu) rs1419949637
NM_000090.4(COL3A1):c.2636G>T (p.Gly879Val) rs587779645
NM_000090.4(COL3A1):c.2639T>C (p.Leu880Pro)
NM_000090.4(COL3A1):c.2645G>A (p.Gly882Asp) rs587779622
NM_000090.4(COL3A1):c.2647_2655dup (p.Gly885_Ser886insProProGly)
NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC rs587779590
NM_000090.4(COL3A1):c.2657G>C (p.Ser886Thr)
NM_000090.4(COL3A1):c.2661+11G>A
NM_000090.4(COL3A1):c.2661+13T>G
NM_000090.4(COL3A1):c.2661+14A>T
NM_000090.4(COL3A1):c.2661+9T>C
NM_000090.4(COL3A1):c.2661T>C (p.Asn887=) rs1306865410
NM_000090.4(COL3A1):c.2662-11A>C
NM_000090.4(COL3A1):c.2662-12A>C
NM_000090.4(COL3A1):c.2662-16A>C
NM_000090.4(COL3A1):c.2662-16A>G
NM_000090.4(COL3A1):c.2662-4G>A
NM_000090.4(COL3A1):c.2662-6T>C rs2153503492
NM_000090.4(COL3A1):c.2668C>G (p.Pro890Ala) rs794728053
NM_000090.4(COL3A1):c.2669C>T (p.Pro890Leu)
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg)
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu) rs1688528616
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.2681G>C (p.Gly894Ala) rs587779589
NM_000090.4(COL3A1):c.2685C>T (p.Pro895=)
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp) rs1688529460
NM_000090.4(COL3A1):c.2699G>A (p.Gly900Asp) rs587779599
NM_000090.4(COL3A1):c.2703G>C (p.Lys901Asn)
NM_000090.4(COL3A1):c.2708G>A (p.Gly903Glu) rs587779505
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu)
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.4(COL3A1):c.2716G>C (p.Gly906Arg)
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp) rs587779483
NM_000090.4(COL3A1):c.2726G>T (p.Gly909Val) rs587779483
NM_000090.4(COL3A1):c.2734G>A (p.Gly912Ser) rs2153503495
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp) rs587779716
NM_000090.4(COL3A1):c.2742T>C (p.Pro914=)
NM_000090.4(COL3A1):c.2743G>A (p.Gly915Ser) rs2153503498
NM_000090.4(COL3A1):c.2745C>A (p.Gly915=)
NM_000090.4(COL3A1):c.2745C>T (p.Gly915=)
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser) rs991559993
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu) rs587779662
NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
NM_000090.4(COL3A1):c.2769A>G (p.Lys923=)
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser) rs587779471
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.4(COL3A1):c.2771G>T (p.Gly924Val) rs587779450
NM_000090.4(COL3A1):c.2776G>A (p.Ala926Thr)
NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp) rs587779432
NM_000090.4(COL3A1):c.2784A>C (p.Gln928His) rs2153503501
NM_000090.4(COL3A1):c.2786C>A (p.Pro929Gln)
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.2797G>A (p.Gly933Arg) rs1688532582
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)
NM_000090.4(COL3A1):c.2798dup (p.Ser934fs)
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu) rs753621331
NM_000090.4(COL3A1):c.2801del (p.Ser934fs)
NM_000090.4(COL3A1):c.2804C>G (p.Pro935Arg)
NM_000090.4(COL3A1):c.2806G>C (p.Gly936Arg) rs587779566
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr) rs1688533171
NM_000090.4(COL3A1):c.2815G>A (p.Gly939Ser) rs587779550
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.4(COL3A1):c.282+13A>T rs754113375
NM_000090.4(COL3A1):c.282+20_282+21del
NM_000090.4(COL3A1):c.282+9A>G rs2153501381
NM_000090.4(COL3A1):c.2823+10T>C
NM_000090.4(COL3A1):c.2823+1G>A rs587779424
NM_000090.4(COL3A1):c.2823+1G>T rs587779424
NM_000090.4(COL3A1):c.2823+4A>G
NM_000090.4(COL3A1):c.2824-14A>G
NM_000090.4(COL3A1):c.2824-15C>T
NM_000090.4(COL3A1):c.2824-1G>A rs587779617
NM_000090.4(COL3A1):c.2824-3T>C
NM_000090.4(COL3A1):c.2824-5A>G rs373994011
NM_000090.4(COL3A1):c.2824-6T>C
NM_000090.4(COL3A1):c.2824-8T>C
NM_000090.4(COL3A1):c.2824-9C>T rs1553509204
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.4(COL3A1):c.2825G>A (p.Gly942Glu) rs587779517
NM_000090.4(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.4(COL3A1):c.283-10C>T
NM_000090.4(COL3A1):c.283-12del
NM_000090.4(COL3A1):c.283-20_283-17del
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.4(COL3A1):c.2835C>T (p.Gly945=)
NM_000090.4(COL3A1):c.2838A>T (p.Pro946=) rs1576470760
NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.4(COL3A1):c.2841T>C (p.Leu947=) rs1576470766
NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg) rs587779447
NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu) rs878853651
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=) rs1688537796
NM_000090.4(COL3A1):c.2850T>C (p.Ala950=)
NM_000090.4(COL3A1):c.2853G>A (p.Gly951=)
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu) rs587779434
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=) rs1377418572
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
NM_000090.4(COL3A1):c.2867G>C (p.Arg956Pro)
NM_000090.4(COL3A1):c.2867G>T (p.Arg956Leu)
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser) rs121912913
NM_000090.4(COL3A1):c.2869G>T (p.Gly957Cys) rs121912913
NM_000090.4(COL3A1):c.286A>G (p.Thr96Ala)
NM_000090.4(COL3A1):c.2870G>A (p.Gly957Asp) rs587779654
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.4(COL3A1):c.2876C>T (p.Ala959Val) rs2153503530
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.4(COL3A1):c.2886A>G (p.Pro962=)
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.4(COL3A1):c.2887G>T (p.Gly963Cys) rs587779640
NM_000090.4(COL3A1):c.2888G>A (p.Gly963Asp) rs587779511
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val) rs587779511
NM_000090.4(COL3A1):c.2888del (p.Gly963fs)
NM_000090.4(COL3A1):c.2897G>T (p.Gly966Val) rs587779571
NM_000090.4(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
NM_000090.4(COL3A1):c.2905G>A (p.Gly969Arg) rs587779580
NM_000090.4(COL3A1):c.2906G>A (p.Gly969Glu)
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.2914G>A (p.Gly972Ser) rs587779723
NM_000090.4(COL3A1):c.2915G>A (p.Gly972Asp) rs587779559
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala) rs587779559
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val) rs587779542
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.4(COL3A1):c.2928C>A (p.Val976=) rs2153503539
NM_000090.4(COL3A1):c.2931+1G>A rs397509373
NM_000090.4(COL3A1):c.2931+20A>G rs1553509243
NM_000090.4(COL3A1):c.2931+3G>C
NM_000090.4(COL3A1):c.2932-10T>A
NM_000090.4(COL3A1):c.2932-10T>C
NM_000090.4(COL3A1):c.2932-15T>C
NM_000090.4(COL3A1):c.2932-16A>T
NM_000090.4(COL3A1):c.2932-6A>T rs1688561621
NM_000090.4(COL3A1):c.2932-8G>A
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser) rs1688561706
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp) rs587779595
NM_000090.4(COL3A1):c.2935G>T (p.Glu979Ter) rs587779488
NM_000090.4(COL3A1):c.2939G>C (p.Ser980Thr)
NM_000090.4(COL3A1):c.2941G>A (p.Gly981Arg) rs587779449
NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg) rs587779449
NM_000090.4(COL3A1):c.2943G>A (p.Gly981=) rs2153503629
NM_000090.4(COL3A1):c.2950_2951delinsAC (p.Gly984Thr) rs1559061242
NM_000090.4(COL3A1):c.2955_2958dup (p.Gly987Ter) rs2153503632
NM_000090.4(COL3A1):c.2958_2959insCGT (p.Asn986_Gly987insArg)
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.4(COL3A1):c.2959G>T (p.Gly987Cys)
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro) rs770525372
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.2977G>T (p.Gly993Cys) rs587779416
NM_000090.4(COL3A1):c.2978G>A (p.Gly993Asp) rs587779456
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.2982C>A (p.Pro994=)
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
NM_000090.4(COL3A1):c.2983C>T (p.Pro995Ser) rs1421131137
NM_000090.4(COL3A1):c.2984C>G (p.Pro995Arg)
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg) rs2153503634
NM_000090.4(COL3A1):c.2987G>A (p.Gly996Glu) rs587779576
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.2995G>A (p.Gly999Ser) rs587779548
NM_000090.4(COL3A1):c.2995G>C (p.Gly999Arg) rs587779548
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp)
NM_000090.4(COL3A1):c.2998C>T (p.Leu1000Phe)
NM_000090.4(COL3A1):c.3006T>C (p.Gly1002=)
NM_000090.4(COL3A1):c.3009G>A (p.Leu1003=)
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=) rs762167409
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys) rs776373729
NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala)
NM_000090.4(COL3A1):c.301G>T (p.Gly101Cys)
NM_000090.4(COL3A1):c.3023G>A (p.Gly1008Asp) rs587779659
NM_000090.4(COL3A1):c.3025G>C (p.Glu1009Gln)
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter)
NM_000090.4(COL3A1):c.3028C>T (p.Pro1010Ser)
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.4(COL3A1):c.3039+154_3525+223del
NM_000090.4(COL3A1):c.3039+1G>A rs587779506
NM_000090.4(COL3A1):c.3039+5G>A rs587779568
NM_000090.4(COL3A1):c.3039+6T>C rs587779532
NM_000090.4(COL3A1):c.3039+8G>A
NM_000090.4(COL3A1):c.3040-127_3255+107del
NM_000090.4(COL3A1):c.3040-3C>G rs2153503706
NM_000090.4(COL3A1):c.3040-7T>C rs996543982
NM_000090.4(COL3A1):c.3040-7dup
NM_000090.4(COL3A1):c.3040-8T>G
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.4(COL3A1):c.3046C>A (p.Pro1016Thr)
NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg) rs1553509397
NM_000090.4(COL3A1):c.3058G>T (p.Gly1020Cys)
NM_000090.4(COL3A1):c.3062_3064del (p.Leu1021del) rs587779529
NM_000090.4(COL3A1):c.3064C>T (p.Pro1022Ser)
NM_000090.4(COL3A1):c.3065C>T (p.Pro1022Leu)
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.4(COL3A1):c.3073G>A (p.Asp1025Asn)
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala)
NM_000090.4(COL3A1):c.3075T>C (p.Asp1025=)
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.3082C>T (p.Pro1028Ser) rs2153503710
NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
NM_000090.4(COL3A1):c.3089G>T (p.Gly1030Val)
NM_000090.4(COL3A1):c.3093+18G>A
NM_000090.4(COL3A1):c.3093+1G>A rs869312034
NM_000090.4(COL3A1):c.3093+1G>T rs869312034
NM_000090.4(COL3A1):c.3093+20A>C
NM_000090.4(COL3A1):c.3093+2T>C rs587779503
NM_000090.4(COL3A1):c.3093+2T>G rs587779503
NM_000090.4(COL3A1):c.3093+3A>C rs771429937
NM_000090.4(COL3A1):c.3093+4T>C
NM_000090.4(COL3A1):c.3093+5A>G rs1688583785
NM_000090.4(COL3A1):c.3093G>A (p.Lys1031=) rs1688583589
NM_000090.4(COL3A1):c.3094-10_3094delinsGT rs1559061674
NM_000090.4(COL3A1):c.3094-4A>G
NM_000090.4(COL3A1):c.3094-8G>A
NM_000090.4(COL3A1):c.3094-8G>T
NM_000090.4(COL3A1):c.3094G>A (p.Gly1032Ser)
NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val) rs587779428
NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter) rs587779677
NM_000090.4(COL3A1):c.30G>C (p.Trp10Cys)
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=) rs1399453028
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val) rs587779582
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.3119C>T (p.Pro1040Leu)
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg) rs1688586251
NM_000090.4(COL3A1):c.3122G>T (p.Gly1041Val) rs587779491
NM_000090.4(COL3A1):c.3125C>T (p.Ala1042Val)
NM_000090.4(COL3A1):c.3126C>T (p.Ala1042=) rs1576471813
NM_000090.4(COL3A1):c.3129T>C (p.Pro1043=)
NM_000090.4(COL3A1):c.3135T>G (p.Ala1045=)
NM_000090.4(COL3A1):c.3140G>A (p.Gly1047Asp) rs587779545
NM_000090.4(COL3A1):c.3141T>A (p.Gly1047=) rs1443252912
NM_000090.4(COL3A1):c.3142C>T (p.His1048Tyr)
NM_000090.4(COL3A1):c.3143A>G (p.His1048Arg) rs2153503727
NM_000090.4(COL3A1):c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly)
NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.4(COL3A1):c.3150C>T (p.Gly1050=)
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser) rs2153503729
NM_000090.4(COL3A1):c.3157G>C (p.Gly1053Arg) rs587779651
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser) rs1576471847
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.4(COL3A1):c.3170C>G (p.Pro1057Arg) rs1576471860
NM_000090.4(COL3A1):c.3176G>T (p.Gly1059Val) rs587779619
NM_000090.4(COL3A1):c.3184G>A (p.Gly1062Ser)
NM_000090.4(COL3A1):c.3185G>A (p.Gly1062Asp)
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=)
NM_000090.4(COL3A1):c.318C>T (p.Gly106=) rs2153501417
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs) rs2153501416
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.4(COL3A1):c.3200G>T (p.Ser1067Ile)
NM_000090.4(COL3A1):c.3201+10C>G rs372405344
NM_000090.4(COL3A1):c.3201+10C>T rs372405344
NM_000090.4(COL3A1):c.3202-15A>G
NM_000090.4(COL3A1):c.3202-17G>T
NM_000090.4(COL3A1):c.3202-20A>G
NM_000090.4(COL3A1):c.3202-20A>T rs1688597270
NM_000090.4(COL3A1):c.3202-2A>G rs587779682
NM_000090.4(COL3A1):c.3202-5C>T rs1417576506
NM_000090.4(COL3A1):c.3202-7A>G rs201091810
NM_000090.4(COL3A1):c.3202-9dup
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.4(COL3A1):c.3203G>A (p.Gly1068Asp)
NM_000090.4(COL3A1):c.3203G>T (p.Gly1068Val) rs587779551
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1]) rs771791598
NM_000090.4(COL3A1):c.3204CCCTGCTGG[3] (p.1069PAG[3]) rs771791598
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.3209C>G (p.Ala1070Gly)
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser) rs1688598580
NM_000090.4(COL3A1):c.321C>T (p.Pro107=)
NM_000090.4(COL3A1):c.3220G>A (p.Gly1074Ser) rs587779554
NM_000090.4(COL3A1):c.3221G>A (p.Gly1074Asp) rs2153503790
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.4(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) rs587779509
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg)
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.4(COL3A1):c.322A>G (p.Lys108Glu)
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.4(COL3A1):c.3239G>A (p.Gly1080Asp) rs587779469
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
NM_000090.4(COL3A1):c.324G>A (p.Lys108=) rs2153501420
NM_000090.4(COL3A1):c.3255+18T>G
NM_000090.4(COL3A1):c.3255+19dup rs1246347975
NM_000090.4(COL3A1):c.3255+1G>A rs587779480
NM_000090.4(COL3A1):c.3255+1G>C rs587779480
NM_000090.4(COL3A1):c.3255+20G>T
NM_000090.4(COL3A1):c.3255+4del
NM_000090.4(COL3A1):c.3255+5G>A rs587779501
NM_000090.4(COL3A1):c.3255+9T>A rs2153503798
NM_000090.4(COL3A1):c.3256-17A>G
NM_000090.4(COL3A1):c.3256-1G>A rs1688619749
NM_000090.4(COL3A1):c.3256-43T>G rs587779667
NM_000090.4(COL3A1):c.3256-44A>G
NM_000090.4(COL3A1):c.3256-6C>T
NM_000090.4(COL3A1):c.3256-8T>C rs2153503883
NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
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.3262C>T (p.Gln1088Ter) rs1328301317
NM_000090.4(COL3A1):c.3266G>A (p.Gly1089Asp) rs587779672
NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val) rs587779672
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
NM_000090.4(COL3A1):c.3274G>T (p.Gly1092Cys) rs2153503888
NM_000090.4(COL3A1):c.3275G>T (p.Gly1092Val) rs587779666
NM_000090.4(COL3A1):c.3276T>C (p.Gly1092=) rs2153503890
NM_000090.4(COL3A1):c.3277G>A (p.Asp1093Asn) rs2153503891
NM_000090.4(COL3A1):c.3284G>A (p.Gly1095Asp) rs587779610
NM_000090.4(COL3A1):c.3284G>T (p.Gly1095Val) rs587779610
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg) rs1224538144
NM_000090.4(COL3A1):c.3290_3291del (p.Thr1097fs) rs2153503895
NM_000090.4(COL3A1):c.3291A>G (p.Thr1097=)
NM_000090.4(COL3A1):c.3292G>C (p.Gly1098Arg) rs2153503896
NM_000090.4(COL3A1):c.3293G>T (p.Gly1098Val) rs587779614
NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg) rs587779439
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.4(COL3A1):c.3312C>T (p.Gly1104=) rs752919642
NM_000090.4(COL3A1):c.3313A>G (p.Ile1105Val)
NM_000090.4(COL3A1):c.3314T>G (p.Ile1105Ser)
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr)
NM_000090.4(COL3A1):c.331C>T (p.Pro111Ser)
NM_000090.4(COL3A1):c.3320G>C (p.Gly1107Ala)
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg) rs1688621770
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.333+14C>T
NM_000090.4(COL3A1):c.333+4A>G rs1688041454
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu) rs1376067428
NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp)
NM_000090.4(COL3A1):c.334-2A>G rs1553506938
NM_000090.4(COL3A1):c.334-3T>C rs2153501467
NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val) rs587779445
NM_000090.4(COL3A1):c.3349G>T (p.Ala1117Ser)
NM_000090.4(COL3A1):c.3353C>T (p.Pro1118Leu)
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp)
NM_000090.4(COL3A1):c.3361C>G (p.Pro1121Ala)
NM_000090.4(COL3A1):c.3363+12C>T
NM_000090.4(COL3A1):c.3363+18G>C
NM_000090.4(COL3A1):c.3364-12C>T
NM_000090.4(COL3A1):c.3364-16C>T
NM_000090.4(COL3A1):c.3364-20T>C
NM_000090.4(COL3A1):c.3364-2A>C rs587779546
NM_000090.4(COL3A1):c.3364-4C>G
NM_000090.4(COL3A1):c.3364-6T>C
NM_000090.4(COL3A1):c.3364-8C>G
NM_000090.4(COL3A1):c.3364-9T>G rs2153503942
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.3375T>C (p.Gly1125=) rs1355734194
NM_000090.4(COL3A1):c.3381G>T (p.Gln1127His)
NM_000090.4(COL3A1):c.3383G>T (p.Gly1128Val) rs2153503949
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.3392G>T (p.Gly1131Val)
NM_000090.4(COL3A1):c.3403C>A (p.Pro1135Thr)
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val) rs1688631496
NM_000090.4(COL3A1):c.3410G>A (p.Gly1137Asp) rs587779720
NM_000090.4(COL3A1):c.3411C>A (p.Gly1137=)
NM_000090.4(COL3A1):c.3412C>T (p.Pro1138Ser)
NM_000090.4(COL3A1):c.3417+17G>C
NM_000090.4(COL3A1):c.3417+18A>G
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000090.4(COL3A1):c.3417+1G>C rs587779444
NM_000090.4(COL3A1):c.3417+1G>T rs587779444
NM_000090.4(COL3A1):c.3417+2T>C
NM_000090.4(COL3A1):c.3417+4A>G
NM_000090.4(COL3A1):c.3417+4_3417+5del rs1553509630
NM_000090.4(COL3A1):c.3417+5G>A rs587779448
NM_000090.4(COL3A1):c.3417+7A>G
NM_000090.4(COL3A1):c.3417+9C>A
NM_000090.4(COL3A1):c.3418-19T>C
NM_000090.4(COL3A1):c.3418-1G>T rs587779562
NM_000090.4(COL3A1):c.3418-2A>G rs587779502
NM_000090.4(COL3A1):c.3418-2A>T rs587779502
NM_000090.4(COL3A1):c.3418-4T>C rs1688634628
NM_000090.4(COL3A1):c.3418-9C>T rs2153503964
NM_000090.4(COL3A1):c.3419G>A (p.Gly1140Glu) rs587779648
NM_000090.4(COL3A1):c.3421C>T (p.Pro1141Ser)
NM_000090.4(COL3A1):c.3424G>A (p.Val1142Ile) rs2153503966
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys) rs964468427
NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del) rs1576472890
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser) rs1287518692
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp) rs1688635593
NM_000090.4(COL3A1):c.3451G>A (p.Asp1151Asn) rs1688635701
NM_000090.4(COL3A1):c.3451G>T (p.Asp1151Tyr)
NM_000090.4(COL3A1):c.3457A>C (p.Thr1153Pro)
NM_000090.4(COL3A1):c.3459C>G (p.Thr1153=) rs1576472923
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs) rs2153503975
NM_000090.4(COL3A1):c.3465A>G (p.Gly1155=) rs2153503977
NM_000090.4(COL3A1):c.3469C>A (p.Pro1157Thr)
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.4(COL3A1):c.3473G>A (p.Gly1158Asp) rs587779472
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.3477C>A (p.Pro1159=)
NM_000090.4(COL3A1):c.3477C>T (p.Pro1159=)
NM_000090.4(COL3A1):c.347T>C (p.Ile116Thr)
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.4(COL3A1):c.3482G>T (p.Gly1161Val) rs587779473
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.3490G>C (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.3490G>T (p.Gly1164Trp) rs587779553
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.4(COL3A1):c.3491G>T (p.Gly1164Val) rs587779431
NM_000090.4(COL3A1):c.3492G>T (p.Gly1164=) rs750595642
NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu) rs763107572
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro)
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr) rs1559052973
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.4(COL3A1):c.3500G>T (p.Gly1167Val) rs587779578
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=) rs546664098
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.4(COL3A1):c.3509G>A (p.Gly1170Asp) rs587779465
NM_000090.4(COL3A1):c.3509G>T (p.Gly1170Val) rs587779465
NM_000090.4(COL3A1):c.350C>T (p.Pro117Leu)
NM_000090.4(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.4(COL3A1):c.3516A>G (p.Arg1172=)
NM_000090.4(COL3A1):c.3517G>A (p.Gly1173Arg) rs587779521
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.4(COL3A1):c.3518G>T (p.Gly1173Val) rs121912918
NM_000090.4(COL3A1):c.3522T>A (p.Ser1174=) rs1576472993
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.3525+3A>C rs1553509674
NM_000090.4(COL3A1):c.3525+5G>A rs2153503988
NM_000090.4(COL3A1):c.3526-17T>C
NM_000090.4(COL3A1):c.3526-1G>C
NM_000090.4(COL3A1):c.3526-7A>G rs2153504067
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu) rs587779669
NM_000090.4(COL3A1):c.3529T>A (p.Ser1177Thr) rs1006132401
NM_000090.4(COL3A1):c.3531C>T (p.Ser1177=) rs1348518346
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln) rs2153504073
NM_000090.4(COL3A1):c.3535G>C (p.Gly1179Arg) rs587779574
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.4(COL3A1):c.3538C>T (p.His1180Tyr)
NM_000090.4(COL3A1):c.3542C>G (p.Pro1181Arg)
NM_000090.4(COL3A1):c.3544G>A (p.Gly1182Arg) rs587779683
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu) rs111505097
NM_000090.4(COL3A1):c.3545G>T (p.Gly1182Val) rs111505097
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.4(COL3A1):c.3554G>T (p.Gly1185Val) rs121912917
NM_000090.4(COL3A1):c.3555C>A (p.Gly1185=)
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser) rs2153504076
NM_000090.4(COL3A1):c.3560C>A (p.Pro1187His)
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg) rs587779504
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser) rs1324996402
NM_000090.4(COL3A1):c.356G>A (p.Arg119Lys)
NM_000090.4(COL3A1):c.3570T>A (p.Pro1190=)
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
NM_000090.4(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) rs587779712
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser) rs1275851079
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser) rs2153504081
NM_000090.4(COL3A1):c.3592G>A (p.Gly1198Ser)
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.3604G>T (p.Ala1202Ser) rs1270244946
NM_000090.4(COL3A1):c.360T>C (p.Asn120=) rs2153501472
NM_000090.4(COL3A1):c.3611C>T (p.Ala1204Val)
NM_000090.4(COL3A1):c.3615T>C (p.Ile1205=)
NM_000090.4(COL3A1):c.3616G>T (p.Ala1206Ser) rs2153504088
NM_000090.4(COL3A1):c.3619G>A (p.Gly1207Arg)
NM_000090.4(COL3A1):c.3638C>T (p.Ala1213Val)
NM_000090.4(COL3A1):c.3640G>A (p.Gly1214Ser)
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=) rs35759441
NM_000090.4(COL3A1):c.3656A>G (p.Tyr1219Cys)
NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu)
NM_000090.4(COL3A1):c.366C>T (p.Asp122=) rs749038976
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=) rs1204937173
NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=) rs1688661575
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.3693C>T (p.Thr1231=) rs368556405
NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His)
NM_000090.4(COL3A1):c.3695A>G (p.Asp1232Gly)
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=) rs1332611074
NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys)
NM_000090.4(COL3A1):c.3697G>C (p.Glu1233Gln)
NM_000090.4(COL3A1):c.36T>G (p.Leu12=)
NM_000090.4(COL3A1):c.3702T>C (p.Ile1234=) rs1576473508
NM_000090.4(COL3A1):c.3710C>T (p.Ser1237Leu)
NM_000090.4(COL3A1):c.3729A>G (p.Gly1243=)
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=) rs1688663238
NM_000090.4(COL3A1):c.3734T>C (p.Ile1245Thr)
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs) rs1688663336
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
NM_000090.4(COL3A1):c.3748A>G (p.Ser1250Gly)
NM_000090.4(COL3A1):c.3749G>A (p.Ser1250Asn)
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu)
NM_000090.4(COL3A1):c.3753T>C (p.Pro1251=)
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn) rs1688664293
NM_000090.4(COL3A1):c.3756T>G (p.Asp1252Glu)
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys) rs1576473569
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu) rs368119434
NM_000090.4(COL3A1):c.3779del (p.Arg1260fs)
NM_000090.4(COL3A1):c.3795G>T (p.Leu1265=)
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln) rs946156674
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.3806A>G (p.His1269Arg) rs751092650
NM_000090.4(COL3A1):c.380G>A (p.Gly127Glu) rs2153501474
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=) rs754340753
NM_000090.4(COL3A1):c.3818A>T (p.Lys1273Met)
NM_000090.4(COL3A1):c.3819G>A (p.Lys1273=) rs1219896056
NM_000090.4(COL3A1):c.3823+10G>C rs2153504121
NM_000090.4(COL3A1):c.3823+11T>C
NM_000090.4(COL3A1):c.3823+13G>A
NM_000090.4(COL3A1):c.3823+15C>T
NM_000090.4(COL3A1):c.3823+16T>G
NM_000090.4(COL3A1):c.3823+17_3823+18del rs2153504125
NM_000090.4(COL3A1):c.3823+1G>T rs1576473641
NM_000090.4(COL3A1):c.3823+3A>G
NM_000090.4(COL3A1):c.3823+4T>C
NM_000090.4(COL3A1):c.3823+8T>C
NM_000090.4(COL3A1):c.3824-13T>C
NM_000090.4(COL3A1):c.3824-13dup
NM_000090.4(COL3A1):c.3824-18T>C
NM_000090.4(COL3A1):c.3824-6A>C rs751180610
NM_000090.4(COL3A1):c.3831C>T (p.Tyr1277=)
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)
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.3847C>T (p.Gln1283Ter) rs587779467
NM_000090.4(COL3A1):c.3850G>A (p.Gly1284Arg)
NM_000090.4(COL3A1):c.3852A>T (p.Gly1284=)
NM_000090.4(COL3A1):c.3863A>T (p.Asp1288Val) rs587779658
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.3876A>G (p.Val1292=)
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.3885T>C (p.Asn1295=)
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.3893C>A (p.Thr1298Asn)
NM_000090.4(COL3A1):c.3907A>T (p.Ile1303Leu)
NM_000090.4(COL3A1):c.390G>T (p.Gly130=) rs771480377
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.3917A>G (p.Asn1306Ser)
NM_000090.4(COL3A1):c.3922T>C (p.Leu1308=)
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.393C>T (p.Ser131=) rs1688052638
NM_000090.4(COL3A1):c.3957T>C (p.Ser1319=)
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.4(COL3A1):c.3966del (p.Lys1323fs) rs587779490
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn) rs2153504249
NM_000090.4(COL3A1):c.396del (p.Gly133fs)
NM_000090.4(COL3A1):c.3971A>G (p.Lys1324Arg) rs2153504251
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=) rs749456336
NM_000090.4(COL3A1):c.3985G>C (p.Gly1329Arg)
NM_000090.4(COL3A1):c.3989del (p.Glu1330fs) rs587779647
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr) rs1688694132
NM_000090.4(COL3A1):c.3994A>G (p.Met1332Val)
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.4(COL3A1):c.399T>G (p.Gly133=)
NM_000090.4(COL3A1):c.39C>G (p.Leu13=) rs1343634872
NM_000090.4(COL3A1):c.4001G>T (p.Gly1334Val)
NM_000090.4(COL3A1):c.4007T>G (p.Phe1336Cys)
NM_000090.4(COL3A1):c.4008dup (p.Gln1337fs)
NM_000090.4(COL3A1):c.4011+16C>A
NM_000090.4(COL3A1):c.4011+17del
NM_000090.4(COL3A1):c.4011+1G>A
NM_000090.4(COL3A1):c.4011+1G>T rs112532745
NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His)
NM_000090.4(COL3A1):c.4012-10C>G
NM_000090.4(COL3A1):c.4012-11C>A
NM_000090.4(COL3A1):c.4012-2A>G rs1559063681
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.4023C>T (p.Gly1341=)
NM_000090.4(COL3A1):c.402T>G (p.Ser134=) rs2153501486
NM_000090.4(COL3A1):c.4041A>C (p.Glu1347Asp)
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly) rs1688703417
NM_000090.4(COL3A1):c.4046T>G (p.Val1349Gly)
NM_000090.4(COL3A1):c.4047C>T (p.Val1349=)
NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=) rs1016578152
NM_000090.4(COL3A1):c.4065A>G (p.Ala1355=) rs778893289
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val) rs945183835
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.4(COL3A1):c.4071T>G (p.Leu1357=) rs1576474355
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.4(COL3A1):c.4076T>A (p.Leu1359His)
NM_000090.4(COL3A1):c.4078C>A (p.Leu1360Ile)
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
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.4096C>T (p.Gln1366Ter) rs863224860
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.40G>C (p.Ala14Pro)
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.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.413del (p.Pro138fs) rs587779707
NM_000090.4(COL3A1):c.413dup (p.Gly139fs) rs587779707
NM_000090.4(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His) rs1029608155
NM_000090.4(COL3A1):c.4148G>A (p.Ser1383Asn)
NM_000090.4(COL3A1):c.414T>C (p.Pro138=)
NM_000090.4(COL3A1):c.4151G>A (p.Gly1384Glu)
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) rs1158116878
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys) rs768168922
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.4205C>T (p.Ala1402Val)
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu) rs549672243
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs)
NM_000090.4(COL3A1):c.4247G>T (p.Gly1416Val)
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys) rs1012915558
NM_000090.4(COL3A1):c.4254+10A>T
NM_000090.4(COL3A1):c.4254+15T>G
NM_000090.4(COL3A1):c.4254+16C>T
NM_000090.4(COL3A1):c.4254+18C>T
NM_000090.4(COL3A1):c.4254+20A>G
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.4255-10T>G
NM_000090.4(COL3A1):c.4255-11C>G
NM_000090.4(COL3A1):c.4255-13T>C
NM_000090.4(COL3A1):c.4255-16T>G
NM_000090.4(COL3A1):c.4255-18T>C
NM_000090.4(COL3A1):c.4255-1G>T rs1688728266
NM_000090.4(COL3A1):c.4255-20C>T rs1480528969
NM_000090.4(COL3A1):c.4255-5T>C
NM_000090.4(COL3A1):c.4255-9T>G
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn) rs754723643
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=) rs1553509998
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter)
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.4280C>T (p.Thr1427Ile)
NM_000090.4(COL3A1):c.4283T>C (p.Val1428Ala)
NM_000090.4(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) rs587779719
NM_000090.4(COL3A1):c.4290A>C (p.Glu1430Asp)
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln) rs772428340
NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile)
NM_000090.4(COL3A1):c.4303A>G (p.Lys1435Glu) rs2153504447
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) rs148015311
NM_000090.4(COL3A1):c.4311G>C (p.Val1437=) rs1688730215
NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs) rs2153504449
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs) rs1688730568
NM_000090.4(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.4(COL3A1):c.4334C>A (p.Ala1445Glu)
NM_000090.4(COL3A1):c.4351G>C (p.Gly1451Arg) rs1688731786
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=) rs112729086
NM_000090.4(COL3A1):c.435T>A (p.Pro145=) rs1060503875
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) rs1576474929
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=) rs1688732280
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu) rs1688732322
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.4374G>A (p.Val1458=)
NM_000090.4(COL3A1):c.4377C>T (p.Asp1459=) rs754741078
NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val) rs1576474944
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr) rs1688732943
NM_000090.4(COL3A1):c.4392C>T (p.Cys1464=)
NM_000090.4(COL3A1):c.4394T>C (p.Phe1465Ser) rs1553510018
NM_000090.4(COL3A1):c.4396T>C (p.Leu1466=)
NM_000090.4(COL3A1):c.4399T>C (p.Ter1467Gln) rs587779618
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
NM_000090.4(COL3A1):c.443C>T (p.Pro148Leu)
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
NM_000090.4(COL3A1):c.447+12dup
NM_000090.4(COL3A1):c.447+14G>A
NM_000090.4(COL3A1):c.447+7C>A
NM_000090.4(COL3A1):c.447G>A (p.Gln149=)
NM_000090.4(COL3A1):c.448-11C>T rs766622043
NM_000090.4(COL3A1):c.448-17T>C
NM_000090.4(COL3A1):c.448-1G>T rs1688078187
NM_000090.4(COL3A1):c.448-6C>T
NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg)
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.477T>C (p.Asp159=)
NM_000090.4(COL3A1):c.485C>G (p.Ser162Cys)
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.496G>C (p.Val166Leu)
NM_000090.4(COL3A1):c.498A>T (p.Val166=)
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del) rs1688079577
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)
NM_000090.4(COL3A1):c.500dup (p.Gly168fs)
NM_000090.4(COL3A1):c.507C>A (p.Leu169=)
NM_000090.4(COL3A1):c.507C>G (p.Leu169=) rs142437505
NM_000090.4(COL3A1):c.508G>T (p.Ala170Ser)
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser) rs2153501643
NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys)
NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala)
NM_000090.4(COL3A1):c.526G>T (p.Ala176Ser)
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.529-5T>G rs886055329
NM_000090.4(COL3A1):c.529-8C>T
NM_000090.4(COL3A1):c.529-8del
NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser)
NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala) rs2153501733
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val) rs2153501733
NM_000090.4(COL3A1):c.531C>T (p.Gly177=) rs41272797
NM_000090.4(COL3A1):c.532C>T (p.Pro178Ser)
NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp) rs587779714
NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg)
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.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg) rs121912926
NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys) rs121912926
NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp) rs587779420
NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala) rs587779420
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val) rs587779420
NM_000090.4(COL3A1):c.552C>T (p.Pro184=) rs1057521290
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.555T>C (p.Pro185=)
NM_000090.4(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser) rs587779446
NM_000090.4(COL3A1):c.55A>C (p.Thr19Pro)
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg) rs587779507
NM_000090.4(COL3A1):c.568C>T (p.His190Tyr)
NM_000090.4(COL3A1):c.569A>C (p.His190Pro)
NM_000090.4(COL3A1):c.570T>C (p.His190=) rs2153501742
NM_000090.4(COL3A1):c.570del (p.Pro191fs)
NM_000090.4(COL3A1):c.575G>T (p.Gly192Val) rs587779710
NM_000090.4(COL3A1):c.582+10G>A rs1553507200
NM_000090.4(COL3A1):c.582+14T>C
NM_000090.4(COL3A1):c.582+19G>A
NM_000090.4(COL3A1):c.582+1G>C rs587779508
NM_000090.4(COL3A1):c.582+20G>A
NM_000090.4(COL3A1):c.582+2dup rs587779524
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.582+5G>T rs587779671
NM_000090.4(COL3A1):c.582+5_582+11delinsACA rs1559053784
NM_000090.4(COL3A1):c.582+6T>A rs397509375
NM_000090.4(COL3A1):c.582+6T>C rs397509375
NM_000090.4(COL3A1):c.582+6dup
NM_000090.4(COL3A1):c.583-11C>T
NM_000090.4(COL3A1):c.583-14A>T
NM_000090.4(COL3A1):c.583-16A>C
NM_000090.4(COL3A1):c.583-4C>G
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.583G>A (p.Gly195Arg) rs267599120
NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg) rs267599120
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val) rs1342128671
NM_000090.4(COL3A1):c.590C>A (p.Pro197Gln)
NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg) rs587779601
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg) rs587779436
NM_000090.4(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.4(COL3A1):c.609del (p.Gly204fs)
NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser) rs587779711
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup) rs587779628
NM_000090.4(COL3A1):c.616C>T (p.Pro206Ser) rs1688112134
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.4(COL3A1):c.620G>T (p.Gly207Val) rs587779592
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.627T>A (p.Ala209=)
NM_000090.4(COL3A1):c.629G>T (p.Gly210Val) rs587779515
NM_000090.4(COL3A1):c.62T>A (p.Ile21Asn)
NM_000090.4(COL3A1):c.630T>A (p.Gly210=)
NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA rs587779681
NM_000090.4(COL3A1):c.636+11A>G
NM_000090.4(COL3A1):c.636+12T>C
NM_000090.4(COL3A1):c.636+12_636+15del
NM_000090.4(COL3A1):c.636+17T>A
NM_000090.4(COL3A1):c.636+1G>A rs587779676
NM_000090.4(COL3A1):c.636+5G>A rs587779688
NM_000090.4(COL3A1):c.636A>G (p.Ser212=)
NM_000090.4(COL3A1):c.637-12C>T
NM_000090.4(COL3A1):c.637-13T>C
NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser) rs587779557
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp) rs2153501864
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.647G>A (p.Gly216Glu) rs587779596
NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del) rs2153501869
NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys) rs587779624
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp) rs587779441
NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala) rs587779441
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr)
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
NM_000090.4(COL3A1):c.662T>C (p.Ile221Thr)
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter)
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp) rs587779518
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val) rs587779518
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala) rs1325737333
NM_000090.4(COL3A1):c.670T>C (p.Ser224Pro)
NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp) rs587779533
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.674G>T (p.Gly225Val) rs587779533
NM_000090.4(COL3A1):c.676C>T (p.Pro226Ser)
NM_000090.4(COL3A1):c.677C>T (p.Pro226Leu)
NM_000090.4(COL3A1):c.678T>C (p.Pro226=)
NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg) rs587779470
NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu) rs587779555
NM_000090.4(COL3A1):c.687A>T (p.Lys229Asn)
NM_000090.4(COL3A1):c.690+11A>G
NM_000090.4(COL3A1):c.690+12A>G
NM_000090.4(COL3A1):c.690+1G>A rs587779660
NM_000090.4(COL3A1):c.690+2T>A rs587779497
NM_000090.4(COL3A1):c.690+2T>G rs587779497
NM_000090.4(COL3A1):c.690+7T>C rs2153501873
NM_000090.4(COL3A1):c.691-13T>A
NM_000090.4(COL3A1):c.691-15T>C
NM_000090.4(COL3A1):c.691-1G>A
NM_000090.4(COL3A1):c.691-27_691-8del
NM_000090.4(COL3A1):c.691-2A>G rs1576463100
NM_000090.4(COL3A1):c.691-4C>G
NM_000090.4(COL3A1):c.694G>A (p.Glu232Lys)
NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter) rs2153501942
NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp) rs587779656
NM_000090.4(COL3A1):c.707C>G (p.Pro236Arg) rs1688155159
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
NM_000090.4(COL3A1):c.708C>G (p.Pro236=) rs775390389
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.4(COL3A1):c.711A>G (p.Gly237=) rs2153501949
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.4(COL3A1):c.718G>C (p.Gly240Arg) rs587779468
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.4(COL3A1):c.723G>T (p.Glu241Asp)
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly) rs1333421028
NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg)
NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu) rs587779629
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.4(COL3A1):c.729A>G (p.Gly243=)
NM_000090.4(COL3A1):c.731T>C (p.Leu244Ser)
NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu) rs587779570
NM_000090.4(COL3A1):c.740C>T (p.Pro247Leu)
NM_000090.4(COL3A1):c.744+10C>T
NM_000090.4(COL3A1):c.744+20T>C
NM_000090.4(COL3A1):c.745-18T>G
NM_000090.4(COL3A1):c.745-3T>C
NM_000090.4(COL3A1):c.745-3T>G
NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser) rs2153501969
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val) rs121912927
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg) rs748787122
NM_000090.4(COL3A1):c.751A>G (p.Lys251Glu)
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)
NM_000090.4(COL3A1):c.754G>C (p.Gly252Arg) rs587779705
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.4(COL3A1):c.755G>A (p.Gly252Asp) rs587779464
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.4(COL3A1):c.758C>G (p.Pro253Arg)
NM_000090.4(COL3A1):c.764G>A (p.Gly255Glu) rs587779605
NM_000090.4(COL3A1):c.764G>T (p.Gly255Val) rs587779605
NM_000090.4(COL3A1):c.766del (p.Ile256fs) rs587779455
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu)
NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg) rs2153501976
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) rs1688161240
NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu)
NM_000090.4(COL3A1):c.79+16T>C rs2153500033
NM_000090.4(COL3A1):c.79+2_79+3dup rs1687768135
NM_000090.4(COL3A1):c.79+4A>G
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.4(COL3A1):c.798+14C>T
NM_000090.4(COL3A1):c.798+1G>A rs587779463
NM_000090.4(COL3A1):c.798+4A>C
NM_000090.4(COL3A1):c.798+6T>C
NM_000090.4(COL3A1):c.798+8G>C
NM_000090.4(COL3A1):c.799-14T>C
NM_000090.4(COL3A1):c.799-6del rs767927599
NM_000090.4(COL3A1):c.799G>A (p.Gly267Ser) rs587779718
NM_000090.4(COL3A1):c.80-14_80-6dup
NM_000090.4(COL3A1):c.80-18A>T rs1483636821
NM_000090.4(COL3A1):c.80-1G>C rs1559052551
NM_000090.4(COL3A1):c.80-2A>T rs2153501340
NM_000090.4(COL3A1):c.80-3C>T
NM_000090.4(COL3A1):c.80-9G>C
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.4(COL3A1):c.80C>G (p.Ala27Gly)
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.4(COL3A1):c.815A>G (p.Asn272Ser)
NM_000090.4(COL3A1):c.817G>T (p.Gly273Ter) rs2153502051
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
NM_000090.4(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000090.4(COL3A1):c.825G>C (p.Lys275Asn)
NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser) rs1576463632
NM_000090.4(COL3A1):c.827G>A (p.Gly276Asp) rs587779644
NM_000090.4(COL3A1):c.827G>T (p.Gly276Val) rs587779644
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.4(COL3A1):c.840T>A (p.Ala280=) rs1576463659
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
NM_000090.4(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.4(COL3A1):c.844G>A (p.Gly282Arg) rs587779531
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val) rs1576463663
NM_000090.4(COL3A1):c.852+16A>T
NM_000090.4(COL3A1):c.852+19C>A
NM_000090.4(COL3A1):c.852+1G>A
NM_000090.4(COL3A1):c.852+20A>G rs1319479140
NM_000090.4(COL3A1):c.852+20A>T
NM_000090.4(COL3A1):c.852+3A>G
NM_000090.4(COL3A1):c.853-19A>G
NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser) rs1333066574
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
NM_000090.4(COL3A1):c.86_88del (p.Glu29del) rs1559052566
NM_000090.4(COL3A1):c.873C>A (p.Gly291=) rs138569287
NM_000090.4(COL3A1):c.873C>G (p.Gly291=)
NM_000090.4(COL3A1):c.876A>G (p.Glu292=)
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.4(COL3A1):c.87A>G (p.Glu29=)
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg) rs2153502094
NM_000090.4(COL3A1):c.888T>G (p.Pro296=)
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.4(COL3A1):c.895A>G (p.Met299Val)
NM_000090.4(COL3A1):c.897+12T>A
NM_000090.4(COL3A1):c.897+15T>G
NM_000090.4(COL3A1):c.897+17T>C
NM_000090.4(COL3A1):c.897+1G>A rs1057518372
NM_000090.4(COL3A1):c.897+20A>G
NM_000090.4(COL3A1):c.897+20del
NM_000090.4(COL3A1):c.898-19T>C
NM_000090.4(COL3A1):c.898-1G>C rs587779556
NM_000090.4(COL3A1):c.898-2A>T
NM_000090.4(COL3A1):c.898-4G>T
NM_000090.4(COL3A1):c.898-8C>T rs766564882
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp) rs587779440
NM_000090.4(COL3A1):c.899G>T (p.Gly300Val) rs587779440
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg) rs121912919
NM_000090.4(COL3A1):c.910G>C (p.Ala304Pro)
NM_000090.4(COL3A1):c.910G>T (p.Ala304Ser)
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser) rs1204385773
NM_000090.4(COL3A1):c.915T>G (p.Pro305=) rs2153502119
NM_000090.4(COL3A1):c.922C>T (p.Arg308Ter)
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser) rs2153502120
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs) rs772827388
NM_000090.4(COL3A1):c.939T>C (p.Leu313=)
NM_000090.4(COL3A1):c.940C>G (p.Pro314Ala)
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000090.4(COL3A1):c.944G>T (p.Gly315Val) rs587779487
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+10G>C
NM_000090.4(COL3A1):c.951+18C>T
NM_000090.4(COL3A1):c.951+19A>T
NM_000090.4(COL3A1):c.951+1G>A rs587779652
NM_000090.4(COL3A1):c.951+2T>A rs587779426
NM_000090.4(COL3A1):c.951+2T>C rs587779426
NM_000090.4(COL3A1):c.951+3G>T rs587779452
NM_000090.4(COL3A1):c.951+4A>T rs587779598
NM_000090.4(COL3A1):c.951+4_951+5del rs1559055162
NM_000090.4(COL3A1):c.951+5G>A rs587779422
NM_000090.4(COL3A1):c.951+6T>A rs587779423
NM_000090.4(COL3A1):c.951+6T>C rs587779423
NM_000090.4(COL3A1):c.951+7A>G
NM_000090.4(COL3A1):c.951_951+14del rs587779425
NM_000090.4(COL3A1):c.952-11T>A
NM_000090.4(COL3A1):c.952-14A>C rs2153502162
NM_000090.4(COL3A1):c.952-2del rs2153502163
NM_000090.4(COL3A1):c.952-6T>C rs1576464133
NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys)
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) rs587779655
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.961G>A (p.Gly321Ser) rs1688203788
NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.4(COL3A1):c.962_963insAAATGACGGTGCTCGAGG (p.Gly327_Ser328insAsnAspGlyAlaArgGly)
NM_000090.4(COL3A1):c.963T>C (p.Gly321=) rs771292385
NM_000090.4(COL3A1):c.963T>G (p.Gly321=)
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.972T>C (p.Gly324=) rs2153502169
NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.4(COL3A1):c.977G>A (p.Arg326Gln)
NM_000090.4(COL3A1):c.981C>G (p.Gly327=)
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly) rs1688204324
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
NM_000090.4(COL3A1):c.996+10T>A rs369957068
NM_000090.4(COL3A1):c.996+10T>C rs369957068
NM_000090.4(COL3A1):c.996+13C>T
NM_000090.4(COL3A1):c.996+1G>A rs587779516
NM_000090.4(COL3A1):c.996+2T>A rs587779649
NM_000090.4(COL3A1):c.997-10A>G rs587779670
NM_000090.4(COL3A1):c.997-15A>G
NM_000090.4(COL3A1):c.997-1G>C rs587779687
NM_000090.4(COL3A1):c.997-1G>T rs587779687
NM_000090.4(COL3A1):c.997-2A>G rs587779602
NM_000090.4(COL3A1):c.997-4T>A
NM_000090.4(COL3A1):c.997-4T>G rs2153502225
NM_000090.4(COL3A1):c.997-8T>C rs2153502224
NM_000090.4(COL3A1):c.997-9T>A rs1278617595
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg) rs1688217136
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000090.4(COL3A1):c.999C>A (p.Gly333=)

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