ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 377
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000093.5(COL5A1):c.*1443G>A rs10895 0.05700
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000093.5(COL5A1):c.5068-170C>T rs73664157 0.02947
NM_000093.5(COL5A1):c.*1562A>G rs116561240 0.02592
NM_000093.5(COL5A1):c.*1642G>A rs116053626 0.02360
NM_000093.5(COL5A1):c.4955-137C>T rs72774480 0.02351
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
NM_000093.5(COL5A1):c.*724C>T rs116156416 0.02219
NM_000093.5(COL5A1):c.4554+307C>A rs117105170 0.01783
NM_000093.5(COL5A1):c.*1637C>A rs148823980 0.01576
NM_000093.5(COL5A1):c.*1806C>T rs11556648 0.01480
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000093.5(COL5A1):c.*660G>A rs73664168 0.01440
NM_000093.5(COL5A1):c.5068-128C>A rs113810157 0.01372
NM_000093.5(COL5A1):c.5067+47G>A rs78846229 0.01207
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_000093.5(COL5A1):c.5068-85A>G rs112132700 0.01168
NM_000093.5(COL5A1):c.4447-44C>T rs112700360 0.01108
NM_000093.5(COL5A1):c.4554+102C>T rs73561955 0.01101
NM_000093.5(COL5A1):c.5068-260T>C rs13294921 0.01075
NM_000093.5(COL5A1):c.5068-96G>A rs112225289 0.01043
NM_000093.5(COL5A1):c.4447-101C>T rs80224569 0.00955
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000093.5(COL5A1):c.4698+289C>T rs115080537 0.00920
NM_000093.5(COL5A1):c.*629A>G rs150345666 0.00897
NM_000093.5(COL5A1):c.5136+152C>T rs113504942 0.00827
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000093.5(COL5A1):c.4699-60C>T rs78125481 0.00777
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00678
NM_000093.5(COL5A1):c.4954+21G>T rs143914892 0.00669
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.4609-280del rs1171345687 0.00570
NM_000093.5(COL5A1):c.5371-46C>T rs73664167 0.00567
NM_000093.5(COL5A1):c.*269C>T rs372857096 0.00557
NM_000093.5(COL5A1):c.4447-349G>A rs149799871 0.00556
NM_000093.5(COL5A1):c.4609-281T>G rs542541481 0.00522
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_000093.5(COL5A1):c.4608+232C>T rs141398004 0.00507
NM_000093.5(COL5A1):c.*190G>A rs55748801 0.00500
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000093.5(COL5A1):c.5370+279G>T rs542725585 0.00481
NM_000093.5(COL5A1):c.4955-48G>A rs60879388 0.00480
NM_000093.5(COL5A1):c.4698+136G>A rs369932934 0.00477
NM_000093.5(COL5A1):c.4698+154G>A rs181768633 0.00473
NM_000093.5(COL5A1):c.5136+192G>A rs73561989 0.00466
NM_000093.5(COL5A1):c.5068-86A>G rs552183981 0.00457
NM_000093.5(COL5A1):c.4954+242C>G rs114261060 0.00448
NM_000093.5(COL5A1):c.4698+121C>T rs145056122 0.00425
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.4954+230C>T rs73561969 0.00334
NM_000093.5(COL5A1):c.4554+247C>G rs535186026 0.00328
NM_000093.5(COL5A1):c.4954+128A>G rs111413734 0.00325
NM_000093.5(COL5A1):c.4609-34G>A rs115403176 0.00256
NM_000093.5(COL5A1):c.*58C>T rs56259444 0.00207
NM_000093.5(COL5A1):c.4554+105C>T rs533312238 0.00172
NM_000093.5(COL5A1):c.*2429T>C rs56031840 0.00148
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_000093.5(COL5A1):c.*1343A>G rs77145856 0.00088
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.*424A>G rs574355137 0.00037
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.*145G>A rs181323324 0.00023
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.5136+73G>A rs560195385 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.*608G>A rs537858864 0.00009
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959 0.00009
NM_000093.5(COL5A1):c.5136+55A>G rs374114460 0.00009
NM_000093.5(COL5A1):c.5370+13C>T rs368524277 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.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.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=) rs144672706 0.00006
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000093.5(COL5A1):c.*8C>T rs375921390 0.00005
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.4536C>T (p.Ser1512=) rs367711669 0.00004
NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=) rs999637196 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.4974T>C (p.Pro1658=) rs759203958 0.00004
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=) rs747118500 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.*15G>A rs757066762 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.4905C>T (p.Pro1635=) rs760426595 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.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.4707G>A (p.Pro1569=) rs370009851 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 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.5193G>A (p.Leu1731=) rs751537287 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.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.*1260G>A rs557696379 0.00001
NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038 0.00001
NM_000093.5(COL5A1):c.4518T>C (p.Pro1506=) rs750313963 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.4555-8C>T rs1393610396 0.00001
NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=) rs770238710 0.00001
NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=) rs774464652 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.4698+20C>T rs1440361056 0.00001
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=) rs775725420 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.4791T>C (p.Asn1597=) rs886063677 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.4911C>T (p.Arg1637=) rs778483767 0.00001
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr) rs863223461 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.5136+17C>T rs765571792 0.00001
NM_000093.5(COL5A1):c.5137-5C>T rs748416238 0.00001
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr) rs753339980 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.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.5421G>A (p.Val1807=) rs1245708449 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.*1653dup rs541530510
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.*9G>A
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.4467G>T (p.Gly1489=) rs878853653
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>T (p.Pro1494=)
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.4530C>A (p.Gly1510=)
NM_000093.5(COL5A1):c.4530C>G (p.Gly1510=)
NM_000093.5(COL5A1):c.4554+16C>A
NM_000093.5(COL5A1):c.4554+16C>T
NM_000093.5(COL5A1):c.4554+20T>C
NM_000093.5(COL5A1):c.4554+20T>G
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.4572T>C (p.Ser1524=)
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=) rs770238710
NM_000093.5(COL5A1):c.4584G>A (p.Gly1528=)
NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)
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+7A>T 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.4609-272C>A rs113171199
NM_000093.5(COL5A1):c.4609-279_4609-278insCCC rs370666409
NM_000093.5(COL5A1):c.4609-6C>T rs1034866420
NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=) rs1588594834
NM_000093.5(COL5A1):c.4623A>C (p.Pro1541=)
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+40G>C rs200471891
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.4645-13T>G rs1172969421
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.4650A>G (p.Pro1550=)
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.4653T>C (p.Thr1551=)
NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)
NM_000093.5(COL5A1):c.4656C>T (p.Gly1552=)
NM_000093.5(COL5A1):c.4677C>T (p.His1559=)
NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)
NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)
NM_000093.5(COL5A1):c.4686C>G (p.Pro1562=)
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
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.4695C>G (p.Pro1565=) rs752029679
NM_000093.5(COL5A1):c.4698+16A>G rs1232246029
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.4699-3del rs1554808051
NM_000093.5(COL5A1):c.4701C>T (p.Gly1567=)
NM_000093.5(COL5A1):c.4713G>A (p.Glu1571=)
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)
NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)
NM_000093.5(COL5A1):c.4746G>A (p.Arg1582=)
NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu) rs531431738
NM_000093.5(COL5A1):c.4755G>A (p.Arg1585=)
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=) rs139332528
NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=) rs1318402758
NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)
NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr)
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.4893G>A (p.Thr1631=)
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=) rs2132884637
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.4955-15G>A
NM_000093.5(COL5A1):c.4955-20T>G
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=) rs998985081
NM_000093.5(COL5A1):c.4968C>G (p.Val1656=) rs201871481
NM_000093.5(COL5A1):c.4998C>T (p.Ser1666=)
NM_000093.5(COL5A1):c.5001C>T (p.Phe1667=) rs886038236
NM_000093.5(COL5A1):c.5010C>T (p.Tyr1670=)
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.5028G>A (p.Gly1676=)
NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
NM_000093.5(COL5A1):c.5049T>C (p.Pro1683=)
NM_000093.5(COL5A1):c.5052C>T (p.Asp1684=)
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
NM_000093.5(COL5A1):c.5067+18T>C
NM_000093.5(COL5A1):c.5068-141C>A rs112040689
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.5093A>G (p.Glu1698Gly)
NM_000093.5(COL5A1):c.5100G>T (p.Pro1700=) rs371875408
NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=) rs2132907681
NM_000093.5(COL5A1):c.5136+102C>G
NM_000093.5(COL5A1):c.5136+120G>A
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+77G>A rs377732839
NM_000093.5(COL5A1):c.5136+77G>T
NM_000093.5(COL5A1):c.5136+8G>C rs770378717
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.5137-20C>T rs1554726232
NM_000093.5(COL5A1):c.5137-7C>G rs376750863
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
NM_000093.5(COL5A1):c.5145T>C (p.Tyr1715=)
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=) rs147434147
NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)
NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=) rs1839798652
NM_000093.5(COL5A1):c.5217C>T (p.His1739=) rs869025374
NM_000093.5(COL5A1):c.5226C>T (p.Val1742=) rs1355725982
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=) rs1564187943
NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=)
NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)
NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=) rs753245063
NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=) rs1375535475
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)
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.5371-10T>A
NM_000093.5(COL5A1):c.5371-14T>C
NM_000093.5(COL5A1):c.5371-15C>A
NM_000093.5(COL5A1):c.5371-19C>T rs1554727355
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.5390A>G (p.Lys1797Arg)
NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu)
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=) rs1002314921
NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)
NM_000093.5(COL5A1):c.5457C>T (p.Asp1819=)
NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=) rs367657505
NM_000093.5(COL5A1):c.5502T>C (p.Ala1834=)
NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=) rs1060504530

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