ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance

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ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_000093.5(COL5A1):c.*2485G>A rs146334187 0.00057
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.*55G>A rs533831376 0.00039
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.4676A>C (p.His1559Pro) rs768691969 0.00021
NM_000093.5(COL5A1):c.*2294A>T rs571153134 0.00019
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.*1734G>A rs886063688 0.00016
NM_000093.5(COL5A1):c.*1845A>G rs553877631 0.00016
NM_000093.5(COL5A1):c.*1848C>G rs886063692 0.00016
NM_000093.5(COL5A1):c.*2175G>A rs781775180 0.00016
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.*1887G>A rs886063693 0.00009
NM_000093.5(COL5A1):c.*2410C>G rs886063694 0.00009
NM_000093.5(COL5A1):c.*68C>T rs886063679 0.00009
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.5389A>C (p.Lys1797Gln) rs560106611 0.00009
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.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) rs372971566 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000093.5(COL5A1):c.*1788G>A rs886063690 0.00004
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561 0.00004
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln) rs369501428 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.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029 0.00004
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu) rs375540141 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.*1787G>A rs886063689 0.00002
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.4706C>T (p.Pro1569Leu) rs1297565068 0.00002
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val) rs528826181 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.4848C>G (p.Asn1616Lys) rs747427505 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 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.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.5437G>A (p.Val1813Met) rs755914340 0.00002
NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219 0.00002
NM_000093.5(COL5A1):c.*589G>A rs886063682 0.00001
NM_000093.5(COL5A1):c.*596A>G rs775044518 0.00001
NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn) rs1422012959 0.00001
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala) rs1008518818 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.4586C>A (p.Pro1529His) rs201582108 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.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.4786G>A (p.Gly1596Arg) rs918778766 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 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.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.5125C>T (p.Arg1709Cys) rs375586129 0.00001
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg) rs1339470102 0.00001
NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp) rs1243519195 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.5234A>T (p.His1745Leu) 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.5426A>C (p.Gln1809Pro) rs1830127790 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.5492T>C (p.Val1831Ala) rs532411382 0.00001
NM_000093.5(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226 0.00001
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134842137)_(134842323_?)del
NM_000093.5(COL5A1):c.*1047_*1049dup rs886063686
NM_000093.5(COL5A1):c.*173C>T rs886063680
NM_000093.5(COL5A1):c.*1786C>G
NM_000093.5(COL5A1):c.*1849ACAA[3] rs886063691
NM_000093.5(COL5A1):c.*2252T>C rs529530286
NM_000093.5(COL5A1):c.*235C>T rs886063681
NM_000093.5(COL5A1):c.*700G>C rs750272409
NM_000093.5(COL5A1):c.*727dup rs1554727609
NM_000093.5(COL5A1):c.*865dup rs57599653
NM_000093.5(COL5A1):c.*866_*867insTAG rs886063684
NM_000093.5(COL5A1):c.*867_*868insATAGG rs1554727637
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser) rs1462918582
NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly) rs1588589560
NM_000093.5(COL5A1):c.4494_4502dup (p.Glu1499_Gly1501dup) rs1554807011
NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser) rs1489565447
NM_000093.5(COL5A1):c.4541C>A (p.Pro1514His) rs2132869183
NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)
NM_000093.5(COL5A1):c.4554+4C>T
NM_000093.5(COL5A1):c.4554+6T>C
NM_000093.5(COL5A1):c.4555-6T>G rs1588592849
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.4566_4574del (p.Ser1524_Pro1526del)
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His) rs1378626783
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.4588C>G (p.Pro1530Ala)
NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser) rs1839028504
NM_000093.5(COL5A1):c.4598C>T (p.Pro1533Leu) rs1564484099
NM_000093.5(COL5A1):c.4609-3C>T
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.4619G>T (p.Gly1540Val) rs1564485256
NM_000093.5(COL5A1):c.4642T>A (p.Ser1548Thr) rs1839084618
NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)
NM_000093.5(COL5A1):c.4644+4A>G rs1478447420
NM_000093.5(COL5A1):c.4645-10_4645-7del rs2132879221
NM_000093.5(COL5A1):c.4645-4C>G rs747264682
NM_000093.5(COL5A1):c.4651A>G (p.Thr1551Ala)
NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser) rs863223460
NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser) rs1172057382
NM_000093.5(COL5A1):c.4685C>G (p.Pro1562Arg) rs772020996
NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu)
NM_000093.5(COL5A1):c.4697C>A (p.Pro1566Gln) rs375540141
NM_000093.5(COL5A1):c.4698+6T>G
NM_000093.5(COL5A1):c.4699-3C>G rs746861627
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.4777C>T (p.Leu1593=) rs1318402758
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_4813del (p.Val1602_Tyr1604del) rs752240390
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=)
NM_000093.5(COL5A1):c.4824G>A (p.Met1608Ile)
NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_000093.5(COL5A1):c.4864A>C (p.Ile1622Leu)
NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr)
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.4921G>A (p.Asp1641Asn)
NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr) rs2132884669
NM_000093.5(COL5A1):c.4954+4A>G rs1564487377
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp) rs1206652736
NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)
NM_000093.5(COL5A1):c.4969G>A (p.Asp1657Asn) rs892181156
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu) rs1839242243
NM_000093.5(COL5A1):c.4984T>C (p.Cys1662Arg) rs2132887638
NM_000093.5(COL5A1):c.4987T>G (p.Ser1663Ala)
NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly) rs1588599794
NM_000093.5(COL5A1):c.4994A>T (p.Asp1665Val)
NM_000093.5(COL5A1):c.5000T>C (p.Phe1667Ser) rs2132887689
NM_000093.5(COL5A1):c.5009_5011dup (p.Tyr1670_Cys1671insTyr)
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe) rs1554808357
NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)
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.5036C>A (p.Thr1679Lys) rs1554808365
NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe) rs1588599870
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
NM_000093.5(COL5A1):c.5053AAG[1] (p.Lys1686del)
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+4A>G rs2132887922
NM_000093.5(COL5A1):c.5067+5G>A
NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe) rs1564183635
NM_000093.5(COL5A1):c.5085G>T (p.Trp1695Cys)
NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)
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.5136+105G>A
NM_000093.5(COL5A1):c.5136+117C>T
NM_000093.5(COL5A1):c.5136+122G>A
NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=)
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.5159G>T (p.Gly1720Val) rs1243519195
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr) rs1839797107
NM_000093.5(COL5A1):c.5173G>A (p.Val1725Met) rs972629744
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.5264C>T (p.Ala1755Val)
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.5288C>T (p.Ala1763Val)
NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His) rs2132925845
NM_000093.5(COL5A1):c.5294dup (p.Phe1766fs)
NM_000093.5(COL5A1):c.5297_5305del (p.Phe1766_Gly1768del) rs2132925907
NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp) rs1588615582
NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro)
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.5318A>G (p.Glu1773Gly)
NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)
NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn) rs863223462
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.5351C>A (p.Ala1784Asp)
NM_000093.5(COL5A1):c.5360A>G (p.Asp1787Gly)
NM_000093.5(COL5A1):c.5365T>C (p.Cys1789Arg) rs2132926308
NM_000093.5(COL5A1):c.5371-12C>T rs769740900
NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC
NM_000093.5(COL5A1):c.5371-5C>T
NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg)
NM_000093.5(COL5A1):c.5391G>C (p.Lys1797Asn) rs2132942992
NM_000093.5(COL5A1):c.5395G>A (p.Val1799Ile) rs863223463
NM_000093.5(COL5A1):c.5411C>A (p.Thr1804Asn) rs755260686
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.5416A>G (p.Lys1806Glu) rs1830127605
NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu) rs1588621758
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>T (p.Ala1823Val) rs747656987
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.5(COL5A1):c.5476A>C (p.Lys1826Gln)
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.5512G>A (p.Gly1838Ser) rs1830130130
NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp)

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