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)
|
|
|