ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 studied for Ehlers-Danlos syndrome, classic type, 1

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Gene type:
ClinVar version:
Total variants: 543
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_000093.5(COL5A1):c.4955-28T>C rs7868111 0.71059
NM_000093.5(COL5A1):c.4608+31T>C rs9697186 0.65324
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000093.5(COL5A1):c.4447-45G>A rs3811147 0.04567
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00678
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000093.5(COL5A1):c.4955-48G>A rs60879388 0.00480
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057 0.00034
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000093.5(COL5A1):c.5371-17G>A rs376639668 0.00025
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val) rs138068984 0.00022
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=) rs140031713 0.00022
NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro) rs768691969 0.00021
NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065 0.00018
NM_000093.5(COL5A1):c.5137-8C>T rs374377228 0.00017
NM_000093.5(COL5A1):c.5370+14G>A rs201082330 0.00016
NM_000093.5(COL5A1):c.4954+16G>A rs370938164 0.00015
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056 0.00012
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633 0.00011
NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His) rs199998065 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=) rs368782334 0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954 0.00009
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959 0.00009
NM_000093.5(COL5A1):c.5370+13C>T rs368524277 0.00009
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611 0.00009
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=) rs367657505 0.00009
NM_000093.5(COL5A1):c.5137-7C>T rs376750863 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306 0.00007
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943 0.00007
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=) rs144081161 0.00007
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) rs142886387 0.00007
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=) rs144672706 0.00006
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000093.5(COL5A1):c.4609-18G>A rs759466196 0.00005
NM_000093.5(COL5A1):c.4645-16T>C rs373762865 0.00005
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) rs147904867 0.00005
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) rs372971566 0.00005
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=) rs537768945 0.00004
NM_000093.5(COL5A1):c.4521C>T (p.Gly1507=) rs552985514 0.00004
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561 0.00004
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) rs367711669 0.00004
NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=) rs999637196 0.00004
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln) rs369501428 0.00004
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=) rs149981025 0.00004
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met) rs201771867 0.00004
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679 0.00004
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn) rs771354369 0.00004
NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=) rs759203958 0.00004
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=) rs747118500 0.00004
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029 0.00004
NM_000093.5(COL5A1):c.5361C>T (p.Asp1787=) rs776090002 0.00004
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=) rs765397184 0.00004
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu) rs375540141 0.00003
NM_000093.5(COL5A1):c.4719C>T (p.Ile1573=) rs966533667 0.00003
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=) rs183904215 0.00003
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln) rs761802703 0.00003
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=) rs760426595 0.00003
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375 0.00003
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg) rs368448060 0.00003
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile) rs764763703 0.00003
NM_000093.5(COL5A1):c.5262C>T (p.Asp1754=) rs771317760 0.00003
NM_000093.5(COL5A1):c.5371-15C>T rs369764872 0.00003
NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu) rs773728118 0.00002
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His) rs373653069 0.00002
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu) rs863223459 0.00002
NM_000093.5(COL5A1):c.4608+19C>T rs200797820 0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu) rs780846555 0.00002
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu) rs1297565068 0.00002
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=) rs370009851 0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000093.5(COL5A1):c.4819G>A (p.Gly1607Ser) rs753525012 0.00002
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser) rs772523567 0.00002
NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys) rs747427505 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.4940C>T (p.Pro1647Leu) rs140669047 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 0.00002
NM_000093.5(COL5A1):c.5029G>A (p.Gly1677Arg) rs768184058 0.00002
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=) rs371875408 0.00002
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His) rs193275092 0.00002
NM_000093.5(COL5A1):c.5193G>A (p.Leu1731=) rs751537287 0.00002
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln) rs767300218 0.00002
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser) rs747231282 0.00002
NM_000093.5(COL5A1):c.5281G>A (p.Asp1761Asn) rs773055539 0.00002
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His) rs150608071 0.00002
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=) rs764817290 0.00002
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603 0.00002
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His) rs746104317 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=) rs200515325 0.00002
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=) rs140744620 0.00002
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met) rs755914340 0.00002
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=) rs768460206 0.00002
NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219 0.00002
NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn) rs1422012959 0.00001
NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038 0.00001
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala) rs1008518818 0.00001
NM_000093.5(COL5A1):c.4554+12G>A rs777162668 0.00001
NM_000093.5(COL5A1):c.4554+3G>A rs370976850 0.00001
NM_000093.5(COL5A1):c.4554+5G>A rs375489070 0.00001
NM_000093.5(COL5A1):c.4555-8C>T rs1393610396 0.00001
NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=) rs770238710 0.00001
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His) rs201582108 0.00001
NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=) rs774464652 0.00001
NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala) rs1839028918 0.00001
NM_000093.5(COL5A1):c.4608+3G>T rs1164584886 0.00001
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu) rs775335297 0.00001
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=) rs762698462 0.00001
NM_000093.5(COL5A1):c.4644+11T>C rs559588659 0.00001
NM_000093.5(COL5A1):c.4644+16C>T rs376268793 0.00001
NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro) rs376821494 0.00001
NM_000093.5(COL5A1):c.4668G>A (p.Glu1556=) rs1457901052 0.00001
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser) rs770278589 0.00001
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=) rs775725420 0.00001
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp) rs758378927 0.00001
NM_000093.5(COL5A1):c.4762G>A (p.Asp1588Asn) rs863223480 0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881 0.00001
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn) rs748610273 0.00001
NM_000093.5(COL5A1):c.4786G>A (p.Gly1596Arg) rs918778766 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr) rs1024649360 0.00001
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=) rs755728242 0.00001
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu) rs754447923 0.00001
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp) rs763091062 0.00001
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=) rs778483767 0.00001
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg) rs730880064 0.00001
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr) rs863223461 0.00001
NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg) rs1273195387 0.00001
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518 0.00001
NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=) rs367902089 0.00001
NM_000093.5(COL5A1):c.5033C>G (p.Ser1678Trp) rs145299315 0.00001
NM_000093.5(COL5A1):c.5067+7A>G rs374122742 0.00001
NM_000093.5(COL5A1):c.5068-13G>A rs761059323 0.00001
NM_000093.5(COL5A1):c.5068-9C>T rs572218532 0.00001
NM_000093.5(COL5A1):c.5099C>T (p.Pro1700Leu) rs751699482 0.00001
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys) rs375586129 0.00001
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg) rs1339470102 0.00001
NM_000093.5(COL5A1):c.5136+17C>T rs765571792 0.00001
NM_000093.5(COL5A1):c.5137-5C>T rs748416238 0.00001
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr) rs760992656 0.00001
NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp) rs1243519195 0.00001
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr) rs753339980 0.00001
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln) rs869025374 0.00001
NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile) rs946316218 0.00001
NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg) rs370607849 0.00001
NM_000093.5(COL5A1):c.5234A>T (p.His1745Leu) rs370607849 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5298C>T (p.Phe1766=) rs1231716528 0.00001
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=) rs754379329 0.00001
NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys) rs759042440 0.00001
NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His) rs778249693 0.00001
NM_000093.5(COL5A1):c.5358G>T (p.Val1786=) rs766205598 0.00001
NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser) rs759291514 0.00001
NM_000093.5(COL5A1):c.5370+12G>A rs752141684 0.00001
NM_000093.5(COL5A1):c.5372C>A (p.Thr1791Asn) rs1258210858 0.00001
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met) rs761036527 0.00001
NM_000093.5(COL5A1):c.5421G>A (p.Val1807=) rs1245708449 0.00001
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro) rs1830127790 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=) rs748940142 0.00001
NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp) rs1251114548 0.00001
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser) rs863223482 0.00001
NM_000093.5(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226 0.00001
NC_000009.12:g.(?_134834951)_(134835224_?)del
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.4447-10T>G rs1227842888
NM_000093.5(COL5A1):c.4447-16C>T
NM_000093.5(COL5A1):c.4447-17T>C
NM_000093.5(COL5A1):c.4447-18G>A
NM_000093.5(COL5A1):c.4447-18G>C
NM_000093.5(COL5A1):c.4447-19T>C rs1554806958
NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg) rs1838935159
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=) rs878853653
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del) rs1838936100
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser) rs1462918582
NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)
NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly) rs1588589560
NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=)
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=)
NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)
NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=) rs764114280
NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser) rs148687561
NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)
NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)
NM_000093.5(COL5A1):c.4530C>A (p.Gly1510=)
NM_000093.5(COL5A1):c.4530C>G (p.Gly1510=)
NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser) rs1489565447
NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs) rs1588589663
NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)
NM_000093.5(COL5A1):c.4554+16C>A
NM_000093.5(COL5A1):c.4554+16C>T
NM_000093.5(COL5A1):c.4554+1G>C rs1564482508
NM_000093.5(COL5A1):c.4554+20T>C
NM_000093.5(COL5A1):c.4554+20T>G
NM_000093.5(COL5A1):c.4554+4C>T
NM_000093.5(COL5A1):c.4554+6T>C
NM_000093.5(COL5A1):c.4555-11G>T rs2132874427
NM_000093.5(COL5A1):c.4555-15T>A rs1057522149
NM_000093.5(COL5A1):c.4555-17T>A
NM_000093.5(COL5A1):c.4555-6T>C rs1588592849
NM_000093.5(COL5A1):c.4564G>T (p.Gly1522Cys)
NM_000093.5(COL5A1):c.4566_4574del (p.Ser1524_Pro1526del)
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His) rs1378626783
NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)
NM_000093.5(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=) rs770238710
NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)
NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala)
NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser) rs1839028504
NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)
NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)
NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs) rs2132874649
NM_000093.5(COL5A1):c.4608+14A>C
NM_000093.5(COL5A1):c.4608+18G>A
NM_000093.5(COL5A1):c.4608+18G>C
NM_000093.5(COL5A1):c.4608+19C>G
NM_000093.5(COL5A1):c.4608+19del
NM_000093.5(COL5A1):c.4608+7A>G rs1554807494
NM_000093.5(COL5A1):c.4608+8T>C
NM_000093.5(COL5A1):c.4609-12CT[3]
NM_000093.5(COL5A1):c.4609-15C>T rs769679819
NM_000093.5(COL5A1):c.4609-6C>T rs1034866420
NM_000093.5(COL5A1):c.4609G>C (p.Gly1537Arg) rs2132877751
NM_000093.5(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=) rs1588594834
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs) rs1839084095
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)
NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)
NM_000093.5(COL5A1):c.4644+10A>C
NM_000093.5(COL5A1):c.4644+10A>G rs373032507
NM_000093.5(COL5A1):c.4644+20G>C
NM_000093.5(COL5A1):c.4644+4A>G rs1478447420
NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)
NM_000093.5(COL5A1):c.4645-10_4645-7del rs2132879221
NM_000093.5(COL5A1):c.4645-12C>A
NM_000093.5(COL5A1):c.4645-17C>A
NM_000093.5(COL5A1):c.4645-21_4645-18del
NM_000093.5(COL5A1):c.4645-4C>T
NM_000093.5(COL5A1):c.4645-5C>T rs1308872784
NM_000093.5(COL5A1):c.4649C>T (p.Pro1550Leu)
NM_000093.5(COL5A1):c.4650A>G (p.Pro1550=)
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser) rs863223460
NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)
NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser) rs1172057382
NM_000093.5(COL5A1):c.4669G>A (p.Ala1557Thr)
NM_000093.5(COL5A1):c.4673dup (p.His1559fs)
NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)
NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
NM_000093.5(COL5A1):c.4688del (p.Pro1563fs)
NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=)
NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)
NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu)
NM_000093.5(COL5A1):c.4695C>G (p.Pro1565=) rs752029679
NM_000093.5(COL5A1):c.4696C>A (p.Pro1566Thr)
NM_000093.5(COL5A1):c.4697C>A (p.Pro1566Gln) rs375540141
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) rs1131691996
NM_000093.5(COL5A1):c.4698+16A>G rs1232246029
NM_000093.5(COL5A1):c.4698+6T>G
NM_000093.5(COL5A1):c.4698+6dup
NM_000093.5(COL5A1):c.4698+9C>A
NM_000093.5(COL5A1):c.4698+9C>T rs753030199
NM_000093.5(COL5A1):c.4699-14G>A
NM_000093.5(COL5A1):c.4699-15T>C
NM_000093.5(COL5A1):c.4699-19C>T
NM_000093.5(COL5A1):c.4699-3C>G rs746861627
NM_000093.5(COL5A1):c.4699-3del rs1554808051
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)
NM_000093.5(COL5A1):c.4711G>C (p.Glu1571Gln)
NM_000093.5(COL5A1):c.4713G>A (p.Glu1571=)
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile) rs543014323
NM_000093.5(COL5A1):c.4714del (p.Val1572fs) rs2132883536
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)
NM_000093.5(COL5A1):c.4738del (p.Ala1580fs)
NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)
NM_000093.5(COL5A1):c.4746G>A (p.Arg1582=)
NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro)
NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly)
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu) rs531431738
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=) rs139332528
NM_000093.5(COL5A1):c.4758del (p.Asn1586fs)
NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=) rs1318402758
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys) rs149212775
NM_000093.5(COL5A1):c.4796A>T (p.Glu1599Val)
NM_000093.5(COL5A1):c.4798A>G (p.Asn1600Asp)
NM_000093.5(COL5A1):c.4805_4813del (p.Val1602_Tyr1604del) rs752240390
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly) rs145175057
NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=)
NM_000093.5(COL5A1):c.4822A>T (p.Met1608Leu)
NM_000093.5(COL5A1):c.4823T>C (p.Met1608Thr)
NM_000093.5(COL5A1):c.4830G>C (p.Glu1610Asp)
NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)
NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs) rs2132884146
NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)
NM_000093.5(COL5A1):c.4847A>G (p.Asn1616Ser)
NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr)
NM_000093.5(COL5A1):c.4856A>G (p.Lys1619Arg)
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr)
NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=) rs2132884435
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=) rs1588598230
NM_000093.5(COL5A1):c.4892C>A (p.Thr1631Lys) rs764446683
NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg) rs764446683
NM_000093.5(COL5A1):c.4897C>G (p.Gln1633Glu) rs1588598244
NM_000093.5(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_000093.5(COL5A1):c.4910G>T (p.Arg1637Leu)
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=) rs2132884637
NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter) rs1219304070
NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr) rs2132884669
NM_000093.5(COL5A1):c.4938C>T (p.His1646=)
NM_000093.5(COL5A1):c.4954+11G>C rs957818279
NM_000093.5(COL5A1):c.4954+11G>T
NM_000093.5(COL5A1):c.4954+15G>T rs2132884821
NM_000093.5(COL5A1):c.4954+17del
NM_000093.5(COL5A1):c.4954+17dup rs757067716
NM_000093.5(COL5A1):c.4954+4A>G rs1564487377
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.4955-15G>A
NM_000093.5(COL5A1):c.4955-1G>C
NM_000093.5(COL5A1):c.4955-20T>G
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp) rs1206652736
NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)
NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)
NM_000093.5(COL5A1):c.4968C>G (p.Val1656=) rs201871481
NM_000093.5(COL5A1):c.4969G>T (p.Asp1657Tyr)
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu) rs1839242243
NM_000093.5(COL5A1):c.4987T>G (p.Ser1663Ala)
NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly) rs1588599794
NM_000093.5(COL5A1):c.4998C>T (p.Ser1666=)
NM_000093.5(COL5A1):c.5009_5011dup (p.Tyr1670_Cys1671insTyr)
NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe) rs1554808357
NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg) rs368448060
NM_000093.5(COL5A1):c.5026G>T (p.Gly1676Trp) rs368448060
NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=)
NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)
NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs) rs2132887783
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu)
NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys) rs1554808365
NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe) rs1588599870
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
NM_000093.5(COL5A1):c.5049T>C (p.Pro1683=)
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg)
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)
NM_000093.5(COL5A1):c.5062G>C (p.Glu1688Gln)
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg) rs1839245619
NM_000093.5(COL5A1):c.5066G>T (p.Gly1689Val)
NM_000093.5(COL5A1):c.5067+18T>C
NM_000093.5(COL5A1):c.5067+1G>A rs1839245948
NM_000093.5(COL5A1):c.5067+4A>G rs2132887922
NM_000093.5(COL5A1):c.5067+5G>A
NM_000093.5(COL5A1):c.5068-14C>G
NM_000093.5(COL5A1):c.5068-14C>T
NM_000093.5(COL5A1):c.5068-19C>T
NM_000093.5(COL5A1):c.5068-20C>T rs908690867
NM_000093.5(COL5A1):c.5071A>G (p.Arg1691Gly)
NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe) rs1564183635
NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)
NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)
NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)
NM_000093.5(COL5A1):c.5105C>T (p.Ser1702Phe)
NM_000093.5(COL5A1):c.5110T>C (p.Phe1704Leu)
NM_000093.5(COL5A1):c.5112C>T (p.Phe1704=)
NM_000093.5(COL5A1):c.5126G>T (p.Arg1709Leu)
NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=) rs2132907681
NM_000093.5(COL5A1):c.5136+13C>T rs1839537836
NM_000093.5(COL5A1):c.5136+15G>A
NM_000093.5(COL5A1):c.5136+16G>T
NM_000093.5(COL5A1):c.5136+18G>A
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT rs1839542247
NM_000093.5(COL5A1):c.5136+8G>C rs770378717
NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=)
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC rs1839537297
NM_000093.5(COL5A1):c.5137-11T>A rs183495554
NM_000093.5(COL5A1):c.5137-12_5137-11del
NM_000093.5(COL5A1):c.5137-15C>A
NM_000093.5(COL5A1):c.5137-18A>G
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=) rs772597610
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=) rs147434147
NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)
NM_000093.5(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr) rs1839797107
NM_000093.5(COL5A1):c.5167G>A (p.Val1723Met)
NM_000093.5(COL5A1):c.5173G>A (p.Val1725Met) rs972629744
NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer) rs2132925550
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp) rs201379514
NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=) rs1839798652
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=)
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000093.5(COL5A1):c.5217C>T (p.His1739=) rs869025374
NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter) rs2132925640
NM_000093.5(COL5A1):c.5226C>T (p.Val1742=) rs1355725982
NM_000093.5(COL5A1):c.5228C>G (p.Thr1743Ser)
NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs) rs2132925682
NM_000093.5(COL5A1):c.5236T>A (p.Cys1746Ser)
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
NM_000093.5(COL5A1):c.5260G>A (p.Asp1754Asn)
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr) rs769947722
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly) rs1839802608
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
NM_000093.5(COL5A1):c.5280del (p.Ser1759_Tyr1760insTer)
NM_000093.5(COL5A1):c.5288C>T (p.Ala1763Val)
NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His) rs2132925845
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs) rs1839803841
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=) rs1564187943
NM_000093.5(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp) rs1588615582
NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro)
NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)
NM_000093.5(COL5A1):c.5308A>G (p.Asn1770Asp) rs2132926010
NM_000093.5(COL5A1):c.5310C>G (p.Asn1770Lys) rs764817290
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)
NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=) rs753245063
NM_000093.5(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_000093.5(COL5A1):c.5318A>G (p.Glu1773Gly)
NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)
NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)
NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=) rs1375535475
NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn) rs863223462
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs) rs1588615658
NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs) rs2132926166
NM_000093.5(COL5A1):c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn) rs2132926191
NM_000093.5(COL5A1):c.5345T>A (p.Ile1782Asn) rs1403819684
NM_000093.5(COL5A1):c.5348G>C (p.Arg1783Pro)
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser) rs143859495
NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro)
NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)
NM_000093.5(COL5A1):c.5360A>G (p.Asp1787Gly)
NM_000093.5(COL5A1):c.5370+15C>T
NM_000093.5(COL5A1):c.5370+16C>T
NM_000093.5(COL5A1):c.5370+17G>A
NM_000093.5(COL5A1):c.5370+18C>T rs370535777
NM_000093.5(COL5A1):c.5370+19G>A
NM_000093.5(COL5A1):c.5370+3_5370+6del rs786200923
NM_000093.5(COL5A1):c.5371-10T>A
NM_000093.5(COL5A1):c.5371-11_*33delinsATGAAGCAAGC
NM_000093.5(COL5A1):c.5371-15C>A
NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC
NM_000093.5(COL5A1):c.5371-4C>T
NM_000093.5(COL5A1):c.5371-6C>A
NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg)
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs) rs1830124408
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.5390A>G (p.Lys1797Arg)
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser) rs755260686
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser) rs554332661
NM_000093.5(COL5A1):c.5414C>A (p.Pro1805His) rs377563294
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg) rs377563294
NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu)
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=) rs1002314921
NM_000093.5(COL5A1):c.5415del (p.Val1807fs) rs2132943031
NM_000093.5(COL5A1):c.5415dup (p.Lys1806fs)
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu) rs1830127605
NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)
NM_000093.5(COL5A1):c.5419G>A (p.Val1807Met)
NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu) rs1588621758
NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter) rs2132943056
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)
NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.5(COL5A1):c.5464G>A (p.Glu1822Lys)
NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val) rs747656987
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=) rs367657505
NM_000093.5(COL5A1):c.5476A>C (p.Lys1826Gln)
NM_000093.5(COL5A1):c.5485T>G (p.Phe1829Val)
NM_000093.5(COL5A1):c.5491G>A (p.Val1831Met)
NM_000093.5(COL5A1):c.5494G>C (p.Gly1832Arg)
NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_000093.5(COL5A1):c.5495G>C (p.Gly1832Ala)
NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704
NM_000093.5(COL5A1):c.5502T>C (p.Ala1834=)
NM_000093.5(COL5A1):c.5502_5503delinsCG (p.Cys1835Gly)
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr)
NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp)
NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=) rs1060504530

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