ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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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.*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.4608+31T>C rs9697186 0.65324
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.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.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.4955-137C>T rs72774480 0.02351
NM_000093.5(COL5A1):c.4609-107G>A rs73664153 0.02347
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.5068-7T>C rs113256540 0.01472
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.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.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.4554+105C>T rs533312238 0.00172
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.5370+14G>A rs201082330 0.00016
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.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.5370+13C>T rs368524277 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.5154C>T (p.Ala1718=) rs147434147 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.4609-18G>A rs759466196 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.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met) rs201771867 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.*15G>A rs757066762 0.00003
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.5371-15C>T rs369764872 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.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.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 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.5460C>T (p.Phe1820=) rs768460206 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.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.4644+16C>T rs376268793 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.4698+20C>T rs1440361056 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.4943A>G (p.Asp1648Gly) rs746071518 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.5136+17C>T rs765571792 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.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.5453A>G (p.Asn1818Ser) rs863223482 0.00001
NM_000093.5(COL5A1):c.4447-19T>C rs1554806958
NM_000093.5(COL5A1):c.4456G>A (p.Gly1486Ser) rs1554806972
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser) 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.4555-15T>A rs1057522149
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.4608+7A>T rs1554807494
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.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.4692C>A (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.4699-3del rs1554808051
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.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.4892C>A (p.Thr1631Lys) rs764446683
NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg) rs764446683
NM_000093.5(COL5A1):c.4954+17dup rs757067716
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.4955-139C>G rs7855787
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.5000T>C (p.Phe1667Ser) rs2132887689
NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs) rs2132887747
NM_000093.5(COL5A1):c.5068-116del rs57187666
NM_000093.5(COL5A1):c.5068-141C>A rs112040689
NM_000093.5(COL5A1):c.5100G>T (p.Pro1700=) rs371875408
NM_000093.5(COL5A1):c.5136+105G>A
NM_000093.5(COL5A1):c.5136+117C>T
NM_000093.5(COL5A1):c.5136+122G>A
NM_000093.5(COL5A1):c.5136+373G>A rs10123667
NM_000093.5(COL5A1):c.5136+77G>A rs377732839
NM_000093.5(COL5A1):c.5137-20C>T rs1554726232
NM_000093.5(COL5A1):c.5137-7C>G rs376750863
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.5313C>T (p.Asp1771=) rs753245063
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+18C>T rs370535777
NM_000093.5(COL5A1):c.5370+3_5370+8delinsC rs1064794972
NM_000093.5(COL5A1):c.5371-19C>T rs1554727355
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.5468C>T (p.Ala1823Val) rs747656987
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=) rs367657505
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.5(COL5A1):c.5486T>G (p.Phe1829Cys) rs863223483

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