ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 305
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4645-112A>T rs3128599 0.85666
NM_000093.5(COL5A1):c.4645-111T>G rs3124936 0.85662
NM_000093.5(COL5A1):c.*2395G>T rs4504708 0.76943
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_000093.5(COL5A1):c.4699-219A>G rs3128602 0.75035
NM_000093.5(COL5A1):c.4955-28T>C rs7868111 0.71059
NM_000093.5(COL5A1):c.5067+119C>T rs4842172 0.69021
NM_000093.5(COL5A1):c.*1125A>T rs1134170 0.66610
NM_000093.5(COL5A1):c.4608+31T>C rs9697186 0.65324
NM_000093.5(COL5A1):c.*2501T>C rs3128575 0.63348
NM_000093.5(COL5A1):c.4554+321T>C rs4842171 0.55702
NM_000093.5(COL5A1):c.5136+280G>A rs3128578 0.55167
NM_000093.5(COL5A1):c.4609-278G>C rs35328624 0.54579
NM_000093.5(COL5A1):c.4955-258C>T rs9409997 0.51462
NM_000093.5(COL5A1):c.4955-259C>A rs9409996 0.50392
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_000093.5(COL5A1):c.4609-269G>A rs10657539 0.41039
NM_000093.5(COL5A1):c.5068-279C>A rs55906519 0.32438
NM_000093.5(COL5A1):c.5068-177C>A rs12353380 0.32178
NM_000093.5(COL5A1):c.4698+135C>T rs3128601 0.28726
NM_000093.5(COL5A1):c.5136+421C>T rs4842174 0.23337
NM_000093.5(COL5A1):c.*894T>C rs11103544 0.20603
NM_000093.5(COL5A1):c.4955-311C>T rs56195655 0.20073
NM_000093.5(COL5A1):c.4609-278del rs66657532 0.16442
NM_000093.5(COL5A1):c.5371-289T>C rs11103543 0.15240
NM_000093.5(COL5A1):c.5371-66T>G rs12554062 0.12739
NM_000093.5(COL5A1):c.4555-294G>A rs10858284 0.11489
NM_000093.5(COL5A1):c.5371-42A>C rs114101109 0.07567
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000093.5(COL5A1):c.4608+195G>A rs74960017 0.06286
NM_000093.5(COL5A1):c.*1443G>A rs10895 0.05700
NM_000093.5(COL5A1):c.4644+176G>A rs59721025 0.05263
NM_000093.5(COL5A1):c.4699-24C>T rs45443491 0.04875
NM_000093.5(COL5A1):c.4447-45G>A rs3811147 0.04567
NM_000093.5(COL5A1):c.4609-134A>G rs12346222 0.04553
NM_000093.5(COL5A1):c.4554+263G>A rs55768823 0.04377
NM_000093.5(COL5A1):c.4609-269dup rs141689755 0.03911
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.5137-142C>T rs76439190 0.02791
NM_000093.5(COL5A1):c.5137-104C>T rs77932602 0.02522
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.4609-107G>A rs73664153 0.02347
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
NM_000093.5(COL5A1):c.4644+99C>G rs116680869 0.02154
NM_000093.5(COL5A1):c.4644+129C>G rs114653197 0.02093
NM_000093.5(COL5A1):c.4699-140C>T rs113110193 0.01856
NM_000093.5(COL5A1):c.4698+146G>A rs75918373 0.01816
NM_000093.5(COL5A1):c.4554+307C>A rs117105170 0.01783
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_000093.5(COL5A1):c.4955-119C>T rs112278047 0.01700
NM_000093.5(COL5A1):c.4955-297G>T rs111857754 0.01698
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
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.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.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.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.4607C>T (p.Pro1536Leu) rs761837954 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.5469G>C (p.Ala1823=) rs367657505 0.00009
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.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.*8C>T rs375921390 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.4522C>A (p.Pro1508Thr) rs148687561 0.00004
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) rs367711669 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.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.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.5499G>A (p.Pro1833=) rs765397184 0.00004
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu) rs375540141 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.5136+121C>T rs780650417 0.00003
NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu) rs773728118 0.00002
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu) rs863223459 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.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 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.5136+132G>A rs1839547284 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.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.5461G>A (p.Gly1821Ser) rs773709219 0.00002
NM_000093.5(COL5A1):c.4471A>T (p.Ile1491Phe) rs863223457 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+5G>A rs375489070 0.00001
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His) rs201582108 0.00001
NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala) rs1839028918 0.00001
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu) rs775335297 0.00001
NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro) rs376821494 0.00001
NM_000093.5(COL5A1):c.4678C>G (p.Pro1560Ala) rs371301871 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.4831A>C (p.Ile1611Leu) rs754447923 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.4955G>C (p.Gly1652Ala) rs1206652736 0.00001
NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=) rs367902089 0.00001
NM_000093.5(COL5A1):c.5068-13G>A rs761059323 0.00001
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys) rs375586129 0.00001
NM_000093.5(COL5A1):c.5167G>C (p.Val1723Leu) rs1487625448 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.5263G>A (p.Ala1755Thr) rs776748227 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.5362G>A (p.Gly1788Ser) rs759291514 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.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.5447T>C (p.Met1816Thr) rs780047867 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.5492T>C (p.Val1831Ala) rs532411382 0.00001
NM_000093.5(COL5A1):c.*1786C>G
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.4447-19T>C rs1554806958
NM_000093.5(COL5A1):c.4456G>A (p.Gly1486Ser) rs1554806972
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.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys) rs863223458
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.4494_4502dup (p.Glu1499_Gly1501dup) rs1554807011
NM_000093.5(COL5A1):c.4541C>A (p.Pro1514His) rs2132869183
NM_000093.5(COL5A1):c.4554+258C>G rs4841935
NM_000093.5(COL5A1):c.4555-8C>G rs1393610396
NM_000093.5(COL5A1):c.4561_4569del (p.Thr1521_Pro1523del) rs863223484
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His) rs1378626783
NM_000093.5(COL5A1):c.4598C>T (p.Pro1533Leu) rs1564484099
NM_000093.5(COL5A1):c.4609-272C>A rs113171199
NM_000093.5(COL5A1):c.4609-279_4609-278insCC rs370666409
NM_000093.5(COL5A1):c.4609-279_4609-278insCCC rs370666409
NM_000093.5(COL5A1):c.4609-279dup rs370666409
NM_000093.5(COL5A1):c.4609-77G>C rs7036997
NM_000093.5(COL5A1):c.4619G>T (p.Gly1540Val) rs1564485256
NM_000093.5(COL5A1):c.4638del (p.Ser1547fs) rs1839084305
NM_000093.5(COL5A1):c.4642T>A (p.Ser1548Thr) rs1839084618
NM_000093.5(COL5A1):c.4644+40G>C rs200471891
NM_000093.5(COL5A1):c.4645-13T>G rs1172969421
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.4651A>G (p.Thr1551Ala)
NM_000093.5(COL5A1):c.4684C>A (p.Pro1562Thr)
NM_000093.5(COL5A1):c.4685C>G (p.Pro1562Arg) rs772020996
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4697C>A (p.Pro1566Gln) rs375540141
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) rs1131691996
NM_000093.5(COL5A1):c.4699-3C>G rs746861627
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys) rs149212775
NM_000093.5(COL5A1):c.4797G>C (p.Glu1599Asp) rs2132883972
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)
NM_000093.5(COL5A1):c.4824G>A (p.Met1608Ile)
NM_000093.5(COL5A1):c.4844_4845del (p.Leu1615fs) rs1554808136
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_000093.5(COL5A1):c.4864A>C (p.Ile1622Leu)
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.4910G>T (p.Arg1637Leu)
NM_000093.5(COL5A1):c.4944C>A (p.Asp1648Glu)
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.4955-139C>G rs7855787
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=) rs998985081
NM_000093.5(COL5A1):c.4969G>A (p.Asp1657Asn) rs892181156
NM_000093.5(COL5A1):c.4984T>C (p.Cys1662Arg) rs2132887638
NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly) rs1588599794
NM_000093.5(COL5A1):c.5000T>C (p.Phe1667Ser) rs2132887689
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg) rs368448060
NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs) rs2132887747
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
NM_000093.5(COL5A1):c.5068-116del rs57187666
NM_000093.5(COL5A1):c.5068-141C>A rs112040689
NM_000093.5(COL5A1):c.5136+105G>A
NM_000093.5(COL5A1):c.5136+114G>C
NM_000093.5(COL5A1):c.5136+117C>T
NM_000093.5(COL5A1):c.5136+122G>A
NM_000093.5(COL5A1):c.5136+126del
NM_000093.5(COL5A1):c.5136+373G>A rs10123667
NM_000093.5(COL5A1):c.5136+72G>A
NM_000093.5(COL5A1):c.5136+77G>A rs377732839
NM_000093.5(COL5A1):c.5137-7C>G rs376750863
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=) rs772597610
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp) rs201379514
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000093.5(COL5A1):c.5227_5235del (p.Thr1743_His1745del) rs1064796096
NM_000093.5(COL5A1):c.5236T>A (p.Cys1746Ser)
NM_000093.5(COL5A1):c.5243A>G (p.Gln1748Arg) rs2132925725
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr) rs769947722
NM_000093.5(COL5A1):c.5294dup (p.Phe1766fs)
NM_000093.5(COL5A1):c.5297_5305del (p.Phe1766_Gly1768del) rs2132925907
NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=)
NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn) rs863223462
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5351C>A (p.Ala1784Asp)
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs) rs863223475
NM_000093.5(COL5A1):c.5365T>C (p.Cys1789Arg) rs2132926308
NM_000093.5(COL5A1):c.5370+3_5370+8delinsC rs1064794972
NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg)
NM_000093.5(COL5A1):c.5395G>A (p.Val1799Ile) rs863223463
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.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.5(COL5A1):c.5434A>G (p.Ile1812Val)
NM_000093.5(COL5A1):c.5458_5459del (p.Phe1820fs) rs1564191682
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val) rs747656987
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.5(COL5A1):c.5486T>G (p.Phe1829Cys) rs863223483
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246
NM_000093.5(COL5A1):c.5512G>A (p.Gly1838Ser) rs1830130130

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.