NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=)
|
rs6434312
|
0.96092
|
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=)
|
rs2229495
|
0.95762
|
NM_000393.5(COL5A2):c.315C>A (p.Thr105=)
|
rs4128539
|
0.93266
|
NM_000393.5(COL5A2):c.322+157C>T
|
rs4128538
|
0.86911
|
NM_000393.5(COL5A2):c.852+14C>T
|
rs56310996
|
0.14063
|
NM_000393.5(COL5A2):c.568-10G>A
|
rs58106884
|
0.13056
|
NM_000393.5(COL5A2):c.337-26T>C
|
rs56380683
|
0.13043
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
NM_000393.5(COL5A2):c.*1402T>G
|
rs11186
|
0.09269
|
NM_000393.5(COL5A2):c.*392T>C
|
rs1131518
|
0.07495
|
NM_000393.5(COL5A2):c.*298G>A
|
rs7586
|
0.07221
|
NM_000393.5(COL5A2):c.315= (p.Thr105=)
|
rs4128539
|
0.06734
|
NM_000393.5(COL5A2):c.*639G>A
|
rs73981487
|
0.05878
|
NM_000393.5(COL5A2):c.*1165G>A
|
rs13914
|
0.04890
|
NM_000393.5(COL5A2):c.1311= (p.Pro437=)
|
rs2229495
|
0.04238
|
NM_000393.5(COL5A2):c.3411= (p.Gly1137=)
|
rs6434312
|
0.03908
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
NM_000393.5(COL5A2):c.*2131T>A
|
rs113513554
|
0.02206
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
NM_000393.5(COL5A2):c.*1400A>G
|
rs12886
|
0.01556
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000393.5(COL5A2):c.*1669G>A
|
rs76151083
|
0.01378
|
NM_000393.5(COL5A2):c.*2062G>A
|
rs77821675
|
0.01359
|
NM_000393.5(COL5A2):c.*1904C>T
|
rs75096234
|
0.01358
|
NM_000393.5(COL5A2):c.*423C>T
|
rs77413180
|
0.01358
|
NM_000393.5(COL5A2):c.*1960A>G
|
rs76482660
|
0.01355
|
NM_000393.5(COL5A2):c.*1379A>G
|
rs114330868
|
0.01303
|
NM_000393.5(COL5A2):c.*515C>T
|
rs113311693
|
0.01221
|
NM_000393.5(COL5A2):c.*46C>A
|
rs112739705
|
0.01217
|
NM_000393.5(COL5A2):c.403-16T>A
|
rs117085226
|
0.01199
|
NM_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
NM_000393.5(COL5A2):c.2661+20G>A
|
rs79623676
|
0.00876
|
NM_000393.5(COL5A2):c.-34C>T
|
rs114102476
|
0.00807
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_000393.5(COL5A2):c.370-16C>T
|
rs148220961
|
0.00748
|
NM_000393.5(COL5A2):c.2554-14A>G
|
rs142429770
|
0.00703
|
NM_000393.5(COL5A2):c.*476T>C
|
rs138670180
|
0.00689
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_000393.5(COL5A2):c.*798A>G
|
rs116775405
|
0.00567
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000393.5(COL5A2):c.*391A>G
|
rs143552248
|
0.00486
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
NM_000393.5(COL5A2):c.*1852T>C
|
rs116255986
|
0.00479
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
NM_000393.5(COL5A2):c.*525A>G
|
rs10195176
|
0.00418
|
NM_000393.5(COL5A2):c.*1076G>A
|
rs114123906
|
0.00382
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=)
|
rs78870279
|
0.00221
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
NM_000393.5(COL5A2):c.-50C>T
|
rs183260194
|
0.00192
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_000393.5(COL5A2):c.33C>T (p.Leu11=)
|
rs140108893
|
0.00130
|
NM_000393.5(COL5A2):c.3039+15C>T
|
rs114619770
|
0.00125
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
rs146789395
|
0.00119
|
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)
|
rs148786600
|
0.00118
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_000393.5(COL5A2):c.*436A>G
|
rs149313073
|
0.00110
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)
|
rs148590409
|
0.00087
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_000393.5(COL5A2):c.2931+11C>T
|
rs184002749
|
0.00073
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
|
rs142832916
|
0.00066
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000393.5(COL5A2):c.2770-5A>G
|
rs370313198
|
0.00060
|
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=)
|
rs143318792
|
0.00058
|
NM_000393.5(COL5A2):c.798+10C>T
|
rs368165817
|
0.00047
|
NM_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
NM_000393.5(COL5A2):c.322+18C>G
|
rs201708256
|
0.00045
|
NM_000393.5(COL5A2):c.3310-17T>A
|
rs201791446
|
0.00038
|
NM_000393.5(COL5A2):c.745-13G>A
|
rs145442880
|
0.00038
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
NM_000393.5(COL5A2):c.*446G>A
|
rs570467727
|
0.00032
|
NM_000393.5(COL5A2):c.2230-16T>A
|
rs375334470
|
0.00031
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro)
|
rs34395097
|
0.00018
|
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=)
|
rs763068575
|
0.00014
|
NM_000393.5(COL5A2):c.*561T>C
|
rs564981830
|
0.00011
|
NM_000393.5(COL5A2):c.1977+12T>G
|
rs202204374
|
0.00011
|
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=)
|
rs372869641
|
0.00009
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
NM_000393.5(COL5A2):c.1716+9A>G
|
rs201934598
|
0.00006
|
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)
|
rs772448543
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000393.5(COL5A2):c.4114-11T>C
|
rs587780908
|
0.00006
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
0.00006
|
NM_000393.5(COL5A2):c.567+17G>T
|
rs780672109
|
0.00006
|
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)
|
rs761126767
|
0.00005
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
|
rs755909523
|
0.00004
|
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val)
|
rs201022138
|
0.00004
|
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=)
|
rs762976916
|
0.00004
|
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser)
|
rs1388564782
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)
|
rs149305351
|
0.00003
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)
|
rs756550702
|
0.00003
|
NM_000393.5(COL5A2):c.2661+13G>T
|
rs534626192
|
0.00002
|
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg)
|
rs374402209
|
0.00002
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=)
|
rs529257786
|
0.00002
|
NM_000393.5(COL5A2):c.750G>A (p.Pro250=)
|
rs751819198
|
0.00002
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)
|
rs746454126
|
0.00001
|
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu)
|
rs1200990468
|
0.00001
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=)
|
rs574148843
|
0.00001
|
NM_000393.5(COL5A2):c.383G>A (p.Arg128His)
|
rs757439328
|
0.00001
|
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys)
|
rs758136981
|
0.00001
|
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
|
rs531204336
|
0.00001
|
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu)
|
rs1335028282
|
0.00001
|
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly)
|
rs780865605
|
0.00001
|
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)
|
rs538602187
|
|
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val)
|
rs76148000
|
|
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
|
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
|
|
|
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
|
|
|
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
|
|
|
NM_000393.5(COL5A2):c.1717-9dup
|
|
|
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
|
|
|
NM_000393.5(COL5A2):c.1869+12G>A
|
|
|
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
|
|
|
NM_000393.5(COL5A2):c.2086-12del
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12del
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12dup
|
|
|
NM_000393.5(COL5A2):c.2086-23dup
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu)
|
rs150260969
|
|
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
|
|
|
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.2661+20G>T
|
rs79623676
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000393.5(COL5A2):c.3310-19dup
|
rs767565265
|
|
NM_000393.5(COL5A2):c.3363+17del
|
|
|
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
|
|
|
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
|
|
|
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
|
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.799-15dup
|
rs1169314276
|
|
NM_000393.5(COL5A2):c.961-11dup
|
rs542134887
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|