ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, vascular type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 781
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
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.*923A>T rs146222772 0.00146
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) rs199727625 0.00104
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_000090.4(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.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
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.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.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.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.1697C>T (p.Pro566Leu) rs150543864 0.00011
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 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.1701G>A (p.Gly567=) rs765802289 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.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.2277C>T (p.Gly759=) rs763343051 0.00007
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=) rs147250987 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.1995C>T (p.Ala665=) rs149093989 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=) rs148901664 0.00006
NM_000090.4(COL3A1):c.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.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.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.1150-20T>C rs377676752 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=) rs745440847 0.00005
NM_000090.4(COL3A1):c.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.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.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.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.1176T>C (p.Pro392=) rs778702019 0.00003
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=) rs946270867 0.00003
NM_000090.4(COL3A1):c.1816-4T>C rs765128089 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.3576C>T (p.Ala1192=) rs574331101 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.1023C>T (p.Ala341=) rs373392096 0.00002
NM_000090.4(COL3A1):c.1038C>T (p.Ser346=) rs772423521 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.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.2109C>T (p.Pro703=) rs746947080 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.2394T>C (p.Gly798=) rs886038982 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.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.3411C>T (p.Gly1137=) rs776330422 0.00002
NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=) rs776077444 0.00002
NM_000090.4(COL3A1):c.3526-16G>A rs373856456 0.00002
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val) rs148387626 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=) rs113753099 0.00002
NM_000090.4(COL3A1):c.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.528+9A>T rs746532251 0.00002
NM_000090.4(COL3A1):c.582+12C>T rs41272799 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.969C>T (p.Asp323=) rs779278835 0.00002
NM_000090.4(COL3A1):c.1050+7_1050+8del rs759415640 0.00001
NM_000090.4(COL3A1):c.1080T>C (p.Gly360=) rs1231189635 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.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.1294-8T>C rs1226243055 0.00001
NM_000090.4(COL3A1):c.129T>C (p.Asp43=) rs774591764 0.00001
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=) rs1553507953 0.00001
NM_000090.4(COL3A1):c.1348-4T>C rs756811190 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.1455+12A>G rs752647323 0.00001
NM_000090.4(COL3A1):c.1510-17T>C rs768697971 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.1581T>C (p.Asp527=) rs890700564 0.00001
NM_000090.4(COL3A1):c.1716A>C (p.Arg572=) rs751916055 0.00001
NM_000090.4(COL3A1):c.1762-17G>A rs768134782 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.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.1924-4C>T rs755814664 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.2022+12A>G rs745914997 0.00001
NM_000090.4(COL3A1):c.2023-15A>G rs764932588 0.00001
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=) rs768133491 0.00001
NM_000090.4(COL3A1):c.204C>T (p.Asp68=) rs368299739 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.2230-10T>C rs1311894180 0.00001
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=) rs1321267556 0.00001
NM_000090.4(COL3A1):c.2337+16A>G rs759863835 0.00001
NM_000090.4(COL3A1):c.2481A>G (p.Arg827=) rs1355382847 0.00001
NM_000090.4(COL3A1):c.2511C>A (p.Gly837=) rs1157152697 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.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.267A>G (p.Pro89=) rs998965783 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.2766A>C (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=) rs915948354 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.3040-12T>C rs757034411 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.3202-5C>A rs1417576506 0.00001
NM_000090.4(COL3A1):c.3219T>G (p.Ala1073=) rs767247799 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.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.3418-15A>G rs754815421 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.3606C>T (p.Ala1202=) rs755573602 0.00001
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000090.4(COL3A1):c.3687C>T (p.Ile1229=) rs1246267310 0.00001
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) rs368556405 0.00001
NM_000090.4(COL3A1):c.3824-11T>G rs766096022 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.3963T>C (p.Ala1321=) rs1057523548 0.00001
NM_000090.4(COL3A1):c.3975C>T (p.His1325=) rs1167154450 0.00001
NM_000090.4(COL3A1):c.4011+8A>C rs781175426 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.414T>G (p.Pro138=) rs1454063115 0.00001
NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=) rs527694833 0.00001
NM_000090.4(COL3A1):c.4224C>T (p.Phe1408=) rs549672243 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.4284C>A (p.Val1428=) rs746436515 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.507C>T (p.Leu169=) rs142437505 0.00001
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr) rs374476865 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.621G>A (p.Gly207=) rs779352711 0.00001
NM_000090.4(COL3A1):c.637-15T>C rs747387258 0.00001
NM_000090.4(COL3A1):c.669A>T (p.Pro223=) rs1034042392 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.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.759A>G (p.Pro253=) rs376198106 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.80-8T>C rs1241543816 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.853-20C>G rs773768258 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.945G>A (p.Gly315=) rs372206736 0.00001
NM_000090.4(COL3A1):c.952-18G>A rs996947690 0.00001
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) rs1229792348 0.00001
NM_000090.4(COL3A1):c.1017A>T (p.Gly339=)
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=) rs1688218162
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.1051-8A>G
NM_000090.4(COL3A1):c.1068A>G (p.Ala356=) rs2153502276
NM_000090.4(COL3A1):c.1086T>C (p.Asn362=) rs1576464711
NM_000090.4(COL3A1):c.1089T>C (p.Gly363=)
NM_000090.4(COL3A1):c.1092C>T (p.Ala364=)
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=)
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=)
NM_000090.4(COL3A1):c.1149+11T>C
NM_000090.4(COL3A1):c.1149+7A>G rs1688231707
NM_000090.4(COL3A1):c.114C>T (p.Ser38=) rs141241764
NM_000090.4(COL3A1):c.1150-4T>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.1152C>T (p.Gly384=) rs1688243975
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.1179T>C (p.Gly393=)
NM_000090.4(COL3A1):c.1194+15C>G
NM_000090.4(COL3A1):c.1194+16T>G
NM_000090.4(COL3A1):c.1195-20T>G
NM_000090.4(COL3A1):c.1195-5C>T
NM_000090.4(COL3A1):c.1197T>A (p.Gly399=)
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1224A>C (p.Gly408=) rs2153502371
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.1254A>G (p.Pro418=) rs2153502381
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=)
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=) rs750476636
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.1294-8T>A
NM_000090.4(COL3A1):c.1294-8_1294-2dup rs1688258466
NM_000090.4(COL3A1):c.1294-9A>G
NM_000090.4(COL3A1):c.1311T>C (p.Asn437=)
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.1335A>G (p.Pro445=) rs1193108024
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.4(COL3A1):c.1347+10A>T
NM_000090.4(COL3A1):c.1347+11C>G rs2153502413
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.1348-5T>C rs2153502431
NM_000090.4(COL3A1):c.1348-8T>A
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=) rs1232746183
NM_000090.4(COL3A1):c.1383A>G (p.Lys461=) rs2153502436
NM_000090.4(COL3A1):c.1386C>T (p.Gly462=)
NM_000090.4(COL3A1):c.1416A>G (p.Glu472=)
NM_000090.4(COL3A1):c.1425A>T (p.Ala475=)
NM_000090.4(COL3A1):c.1443T>C (p.Ala481=)
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.1456-15T>G rs1688273707
NM_000090.4(COL3A1):c.1456-16C>G rs748670622
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=) rs747522483
NM_000090.4(COL3A1):c.1470C>T (p.Phe490=)
NM_000090.4(COL3A1):c.1491T>C (p.Asn497=)
NM_000090.4(COL3A1):c.1500A>G (p.Pro500=)
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.1510-10C>T
NM_000090.4(COL3A1):c.1510-12T>C
NM_000090.4(COL3A1):c.1510-4T>C rs529479786
NM_000090.4(COL3A1):c.153A>G (p.Gln51=)
NM_000090.4(COL3A1):c.1548G>A (p.Gly516=) rs765885725
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.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.1609-10T>C rs762824449
NM_000090.4(COL3A1):c.1609-14C>G rs1243909889
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.1656G>T (p.Gly552=)
NM_000090.4(COL3A1):c.1662+16A>C
NM_000090.4(COL3A1):c.1662+20C>A
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.1663-4T>C
NM_000090.4(COL3A1):c.1663-9del rs770372880
NM_000090.4(COL3A1):c.1701G>T (p.Gly567=)
NM_000090.4(COL3A1):c.1725T>G (p.Pro575=)
NM_000090.4(COL3A1):c.1728T>G (p.Gly576=)
NM_000090.4(COL3A1):c.1740C>T (p.Phe580=) rs2153502690
NM_000090.4(COL3A1):c.1761+13A>G
NM_000090.4(COL3A1):c.1761+16A>G rs368540657
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.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.1762-6C>T rs2153502785
NM_000090.4(COL3A1):c.1794C>T (p.Gly598=)
NM_000090.4(COL3A1):c.1806T>A (p.Pro602=) rs2153502789
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.1836T>C (p.Gly612=) rs1576467117
NM_000090.4(COL3A1):c.1860A>G (p.Pro620=) rs141128796
NM_000090.4(COL3A1):c.1863G>A (p.Gly621=)
NM_000090.4(COL3A1):c.1869+13A>T
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.1870-9C>T rs777339506
NM_000090.4(COL3A1):c.1872G>C (p.Gly624=)
NM_000090.4(COL3A1):c.1905T>C (p.Pro635=)
NM_000090.4(COL3A1):c.1923+9T>C
NM_000090.4(COL3A1):c.1924-14A>T
NM_000090.4(COL3A1):c.1924-8C>A rs1553508534
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=)
NM_000090.4(COL3A1):c.1971G>A (p.Gly657=)
NM_000090.4(COL3A1):c.1974A>G (p.Glu658=)
NM_000090.4(COL3A1):c.1977+16T>A
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.1980T>C (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
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+19del
NM_000090.4(COL3A1):c.2023-17A>C
NM_000090.4(COL3A1):c.2023-17A>G
NM_000090.4(COL3A1):c.2023-4A>G
NM_000090.4(COL3A1):c.2034T>C (p.Gly678=)
NM_000090.4(COL3A1):c.2070G>A (p.Gly690=) rs1337071262
NM_000090.4(COL3A1):c.2085A>G (p.Arg695=)
NM_000090.4(COL3A1):c.2103T>C (p.Pro701=) rs1688401379
NM_000090.4(COL3A1):c.2121+13C>T
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.2142G>A (p.Gly714=)
NM_000090.4(COL3A1):c.2199T>C (p.Gly733=) rs762547633
NM_000090.4(COL3A1):c.2205A>C (p.Gly735=)
NM_000090.4(COL3A1):c.2229+10T>C
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.2238A>G (p.Pro746=) rs1311262989
NM_000090.4(COL3A1):c.2241C>A (p.Gly747=)
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.4(COL3A1):c.2253T>C (p.Ala751=)
NM_000090.4(COL3A1):c.225C>A (p.Pro75=) rs141335164
NM_000090.4(COL3A1):c.2262C>T (p.Val754=)
NM_000090.4(COL3A1):c.2265A>G (p.Pro755=) rs1576468557
NM_000090.4(COL3A1):c.2268G>A (p.Gly756=)
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+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.2284-4C>G rs1576469212
NM_000090.4(COL3A1):c.2298T>G (p.Pro766=) rs1278002435
NM_000090.4(COL3A1):c.2301T>C (p.Ile767=) rs1559059510
NM_000090.4(COL3A1):c.2304T>C (p.Gly768=)
NM_000090.4(COL3A1):c.2319T>C (p.Ala773=) rs2153503232
NM_000090.4(COL3A1):c.2337+15T>C
NM_000090.4(COL3A1):c.2337+7C>A rs1060503874
NM_000090.4(COL3A1):c.2338-7T>C rs1688463217
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=) rs1207914999
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=) rs200452382
NM_000090.4(COL3A1):c.2373T>G (p.Ala791=)
NM_000090.4(COL3A1):c.2391+12del
NM_000090.4(COL3A1):c.2391+16A>G
NM_000090.4(COL3A1):c.2391+18T>C
NM_000090.4(COL3A1):c.2392-16A>C rs2153503297
NM_000090.4(COL3A1):c.2397G>A (p.Glu799=) rs1338674766
NM_000090.4(COL3A1):c.2403T>C (p.Gly801=)
NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)
NM_000090.4(COL3A1):c.2418A>G (p.Pro806=) rs2153503304
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=) rs1688486002
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.4(COL3A1):c.2445+14T>G
NM_000090.4(COL3A1):c.2445+15_2445+18del
NM_000090.4(COL3A1):c.2445+19A>G rs776819930
NM_000090.4(COL3A1):c.2446-10T>A
NM_000090.4(COL3A1):c.2446-12T>C
NM_000090.4(COL3A1):c.2446-3T>C
NM_000090.4(COL3A1):c.2457T>C (p.Gly819=) rs2153503369
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.2499A>G (p.Lys833=)
NM_000090.4(COL3A1):c.24G>A (p.Gly8=) rs754759981
NM_000090.4(COL3A1):c.2511C>T (p.Gly837=)
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+21_2553+22del
NM_000090.4(COL3A1):c.2553+23_2553+26del rs982921278
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.2554-6A>G rs1688514197
NM_000090.4(COL3A1):c.2554-6A>T
NM_000090.4(COL3A1):c.258A>T (p.Ala86=) rs775636888
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.2607+16C>G
NM_000090.4(COL3A1):c.2607+19A>C
NM_000090.4(COL3A1):c.2610T>C (p.Gly870=) rs1474368726
NM_000090.4(COL3A1):c.2622C>T (p.Phe874=)
NM_000090.4(COL3A1):c.2628T>C (p.Gly876=)
NM_000090.4(COL3A1):c.2631T>C (p.Ala877=)
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.2662-11A>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.2685C>T (p.Pro895=)
NM_000090.4(COL3A1):c.2742T>C (p.Pro914=)
NM_000090.4(COL3A1):c.2745C>A (p.Gly915=)
NM_000090.4(COL3A1):c.2745C>T (p.Gly915=)
NM_000090.4(COL3A1):c.2769A>G (p.Lys923=)
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.2824-14A>G
NM_000090.4(COL3A1):c.2824-15C>T
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.283-10C>T
NM_000090.4(COL3A1):c.283-20_283-17del
NM_000090.4(COL3A1):c.2835C>T (p.Gly945=)
NM_000090.4(COL3A1):c.2838A>T (p.Pro946=) rs1576470760
NM_000090.4(COL3A1):c.2841T>C (p.Leu947=) rs1576470766
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.2862A>T (p.Gly954=) rs1377418572
NM_000090.4(COL3A1):c.2886A>G (p.Pro962=)
NM_000090.4(COL3A1):c.2928C>A (p.Val976=) rs2153503539
NM_000090.4(COL3A1):c.2931+20A>G rs1553509243
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.2943G>A (p.Gly981=) rs2153503629
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.2982C>A (p.Pro994=)
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
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.3039+8G>A
NM_000090.4(COL3A1):c.3040-7T>C rs996543982
NM_000090.4(COL3A1):c.3040-8T>G
NM_000090.4(COL3A1):c.3075T>C (p.Asp1025=)
NM_000090.4(COL3A1):c.3093+18G>A
NM_000090.4(COL3A1):c.3093+20A>C
NM_000090.4(COL3A1):c.3094-4A>G
NM_000090.4(COL3A1):c.3094-8G>A
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.3141T>A (p.Gly1047=) rs1443252912
NM_000090.4(COL3A1):c.3150C>T (p.Gly1050=)
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=)
NM_000090.4(COL3A1):c.318C>T (p.Gly106=) rs2153501417
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.3202-7A>G rs201091810
NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=) rs774148328
NM_000090.4(COL3A1):c.321C>T (p.Pro107=)
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.4(COL3A1):c.324G>A (p.Lys108=) rs2153501420
NM_000090.4(COL3A1):c.3255+18T>G
NM_000090.4(COL3A1):c.3255+20G>T
NM_000090.4(COL3A1):c.3255+9T>A rs2153503798
NM_000090.4(COL3A1):c.3256-17A>G
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.3276T>C (p.Gly1092=) rs2153503890
NM_000090.4(COL3A1):c.3291A>G (p.Thr1097=)
NM_000090.4(COL3A1):c.333+14C>T
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.3364-6T>C
NM_000090.4(COL3A1):c.3364-9T>G rs2153503942
NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=) rs1355734194
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=) rs148918486
NM_000090.4(COL3A1):c.3411C>A (p.Gly1137=)
NM_000090.4(COL3A1):c.3417+17G>C
NM_000090.4(COL3A1):c.3417+18A>G
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.3418-4T>C rs1688634628
NM_000090.4(COL3A1):c.3418-9C>T rs2153503964
NM_000090.4(COL3A1):c.3459C>G (p.Thr1153=) rs1576472923
NM_000090.4(COL3A1):c.3465A>G (p.Gly1155=) rs2153503977
NM_000090.4(COL3A1):c.3477C>A (p.Pro1159=)
NM_000090.4(COL3A1):c.3477C>T (p.Pro1159=)
NM_000090.4(COL3A1):c.3492G>T (p.Gly1164=) rs750595642
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=) rs546664098
NM_000090.4(COL3A1):c.3516A>G (p.Arg1172=)
NM_000090.4(COL3A1):c.3522T>A (p.Ser1174=) rs1576472993
NM_000090.4(COL3A1):c.3526-17T>C
NM_000090.4(COL3A1):c.3526-7A>G rs2153504067
NM_000090.4(COL3A1):c.3531C>T (p.Ser1177=) rs1348518346
NM_000090.4(COL3A1):c.3555C>A (p.Gly1185=)
NM_000090.4(COL3A1):c.3570T>A (p.Pro1190=)
NM_000090.4(COL3A1):c.360T>C (p.Asn120=) rs2153501472
NM_000090.4(COL3A1):c.3615T>C (p.Ile1205=)
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=) rs35759441
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.3693C>T (p.Thr1231=) rs368556405
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=) rs1332611074
NM_000090.4(COL3A1):c.36T>G (p.Leu12=)
NM_000090.4(COL3A1):c.3702T>C (p.Ile1234=) rs1576473508
NM_000090.4(COL3A1):c.3729A>G (p.Gly1243=)
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=) rs1688663238
NM_000090.4(COL3A1):c.3753T>C (p.Pro1251=)
NM_000090.4(COL3A1):c.3795G>T (p.Leu1265=)
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=) rs754340753
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+8T>C
NM_000090.4(COL3A1):c.3824-13T>C
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.3852A>T (p.Gly1284=)
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>C (p.Asn1295=)
NM_000090.4(COL3A1):c.390G>T (p.Gly130=) rs771480377
NM_000090.4(COL3A1):c.3922T>C (p.Leu1308=)
NM_000090.4(COL3A1):c.393C>T (p.Ser131=) rs1688052638
NM_000090.4(COL3A1):c.3957T>C (p.Ser1319=)
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=) rs749456336
NM_000090.4(COL3A1):c.399T>G (p.Gly133=)
NM_000090.4(COL3A1):c.39C>G (p.Leu13=) rs1343634872
NM_000090.4(COL3A1):c.4011+16C>A
NM_000090.4(COL3A1):c.4011+17del
NM_000090.4(COL3A1):c.4012-11C>A
NM_000090.4(COL3A1):c.402T>G (p.Ser134=) rs2153501486
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.4071T>G (p.Leu1357=) rs1576474355
NM_000090.4(COL3A1):c.408C>G (p.Gly136=) rs762388691
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=) rs560478513
NM_000090.4(COL3A1):c.414T>C (p.Pro138=)
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=) rs1054676420
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.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.4255-20C>T rs1480528969
NM_000090.4(COL3A1):c.4255-5T>C
NM_000090.4(COL3A1):c.4255-9T>G
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=) rs1553509998
NM_000090.4(COL3A1):c.4311G>C (p.Val1437=) rs1688730215
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=) rs112729086
NM_000090.4(COL3A1):c.435T>A (p.Pro145=) rs1060503875
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=) rs1688732280
NM_000090.4(COL3A1):c.4374G>A (p.Val1458=)
NM_000090.4(COL3A1):c.4377C>T (p.Asp1459=) rs754741078
NM_000090.4(COL3A1):c.4392C>T (p.Cys1464=)
NM_000090.4(COL3A1):c.4396T>C (p.Leu1466=)
NM_000090.4(COL3A1):c.447+12dup
NM_000090.4(COL3A1):c.447+7C>A
NM_000090.4(COL3A1):c.448-11C>T rs766622043
NM_000090.4(COL3A1):c.448-17T>C
NM_000090.4(COL3A1):c.448-6C>T
NM_000090.4(COL3A1):c.477T>C (p.Asp159=)
NM_000090.4(COL3A1):c.498A>T (p.Val166=)
NM_000090.4(COL3A1):c.507C>A (p.Leu169=)
NM_000090.4(COL3A1):c.507C>G (p.Leu169=) rs142437505
NM_000090.4(COL3A1):c.529-8C>T
NM_000090.4(COL3A1):c.529-8del
NM_000090.4(COL3A1):c.531C>T (p.Gly177=) rs41272797
NM_000090.4(COL3A1):c.546C>A (p.Pro182=) rs754584062
NM_000090.4(COL3A1):c.552C>T (p.Pro184=) rs1057521290
NM_000090.4(COL3A1):c.555T>C (p.Pro185=)
NM_000090.4(COL3A1):c.570T>C (p.His190=) rs2153501742
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+20G>A
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>T
NM_000090.4(COL3A1):c.583-7T>C rs886055330
NM_000090.4(COL3A1):c.627T>A (p.Ala209=)
NM_000090.4(COL3A1):c.630T>A (p.Gly210=)
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.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.639C>A (p.Gly213=) rs2153501865
NM_000090.4(COL3A1):c.678T>C (p.Pro226=)
NM_000090.4(COL3A1):c.690+11A>G
NM_000090.4(COL3A1):c.690+12A>G
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.691-4C>G
NM_000090.4(COL3A1):c.708C>G (p.Pro236=) rs775390389
NM_000090.4(COL3A1):c.711A>G (p.Gly237=) rs2153501949
NM_000090.4(COL3A1):c.729A>G (p.Gly243=)
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.79+16T>C rs2153500033
NM_000090.4(COL3A1):c.798+14C>T
NM_000090.4(COL3A1):c.798+8G>C
NM_000090.4(COL3A1):c.799-14T>C
NM_000090.4(COL3A1):c.80-14_80-6dup
NM_000090.4(COL3A1):c.80-18A>T rs1483636821
NM_000090.4(COL3A1):c.80-3C>T
NM_000090.4(COL3A1):c.80-9G>C
NM_000090.4(COL3A1):c.840T>A (p.Ala280=) rs1576463659
NM_000090.4(COL3A1):c.852+16A>T
NM_000090.4(COL3A1):c.852+19C>A
NM_000090.4(COL3A1):c.852+20A>G rs1319479140
NM_000090.4(COL3A1):c.852+20A>T
NM_000090.4(COL3A1):c.853-19A>G
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.87A>G (p.Glu29=)
NM_000090.4(COL3A1):c.888T>G (p.Pro296=)
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+20A>G
NM_000090.4(COL3A1):c.897+20del
NM_000090.4(COL3A1):c.898-19T>C
NM_000090.4(COL3A1):c.898-4G>T
NM_000090.4(COL3A1):c.898-8C>T rs766564882
NM_000090.4(COL3A1):c.915T>G (p.Pro305=) rs2153502119
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.952-14A>C rs2153502162
NM_000090.4(COL3A1):c.952-6T>C rs1576464133
NM_000090.4(COL3A1):c.963T>C (p.Gly321=) rs771292385
NM_000090.4(COL3A1):c.963T>G (p.Gly321=)
NM_000090.4(COL3A1):c.972T>C (p.Gly324=) rs2153502169
NM_000090.4(COL3A1):c.981C>G (p.Gly327=)
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.997-15A>G
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.999C>A (p.Gly333=)

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