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.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
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.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
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.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
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.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_000393.5(COL5A2):c.33C>T (p.Leu11=)
|
rs140108893
|
0.00130
|
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.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.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
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.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
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.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
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.4392T>C (p.Tyr1464=)
|
rs142544320
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=)
|
rs375110673
|
0.00019
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)
|
rs373288848
|
0.00018
|
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr)
|
rs754018138
|
0.00017
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
NM_000393.5(COL5A2):c.288T>C (p.Cys96=)
|
rs577308799
|
0.00016
|
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)
|
rs140851866
|
0.00015
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
NM_000393.5(COL5A2):c.228C>T (p.Cys76=)
|
rs564136480
|
0.00013
|
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)
|
rs149064715
|
0.00013
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=)
|
rs370304175
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000393.5(COL5A2):c.403-3T>C
|
rs369733690
|
0.00010
|
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)
|
rs142895373
|
0.00010
|
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=)
|
rs372869641
|
0.00009
|
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys)
|
rs930378570
|
0.00009
|
NM_000393.5(COL5A2):c.570G>A (p.Pro190=)
|
rs139666335
|
0.00009
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His)
|
rs529317104
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)
|
rs758412337
|
0.00007
|
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)
|
rs368234550
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=)
|
rs773332771
|
0.00006
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)
|
rs199530997
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=)
|
rs1131429
|
0.00006
|
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=)
|
rs138837670
|
0.00006
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
0.00006
|
NM_000393.5(COL5A2):c.735T>G (p.Pro245=)
|
rs148851552
|
0.00006
|
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)
|
rs370774253
|
0.00005
|
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)
|
rs372220538
|
0.00005
|
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)
|
rs761126767
|
0.00005
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=)
|
rs762976916
|
0.00004
|
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=)
|
rs149574060
|
0.00004
|
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
|
rs745845130
|
0.00004
|
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
|
rs201460445
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=)
|
rs760353505
|
0.00004
|
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=)
|
rs199904322
|
0.00004
|
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=)
|
rs754605516
|
0.00004
|
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His)
|
rs150931608
|
0.00004
|
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=)
|
rs142857608
|
0.00004
|
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)
|
rs371225266
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys)
|
rs201961021
|
0.00003
|
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His)
|
rs1039715132
|
0.00003
|
NM_000393.5(COL5A2):c.3717C>T (p.His1239=)
|
rs769790821
|
0.00003
|
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=)
|
rs767144730
|
0.00003
|
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)
|
rs747653593
|
0.00003
|
NM_000393.5(COL5A2):c.399G>A (p.Pro133=)
|
rs369867930
|
0.00003
|
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)
|
rs756550702
|
0.00003
|
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)
|
rs761481937
|
0.00003
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
NM_000393.5(COL5A2):c.537G>A (p.Pro179=)
|
rs762891893
|
0.00003
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=)
|
rs765364009
|
0.00002
|
NM_000393.5(COL5A2):c.2031+3A>G
|
rs201947903
|
0.00002
|
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=)
|
rs375877757
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg)
|
rs374402209
|
0.00002
|
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=)
|
rs1060504380
|
0.00002
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
|
rs1243023432
|
0.00002
|
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys)
|
rs1247714244
|
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.1188C>T (p.Gly396=)
|
rs863223485
|
0.00001
|
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=)
|
rs770622592
|
0.00001
|
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys)
|
rs863223490
|
0.00001
|
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
|
rs1443765130
|
0.00001
|
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser)
|
rs369506320
|
0.00001
|
NM_000393.5(COL5A2):c.1A>G (p.Met1Val)
|
rs563606558
|
0.00001
|
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys)
|
rs144652675
|
0.00001
|
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=)
|
rs549187703
|
0.00001
|
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=)
|
rs138457003
|
0.00001
|
NM_000393.5(COL5A2):c.2392-4A>G
|
rs758314268
|
0.00001
|
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
|
rs1458760818
|
0.00001
|
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)
|
rs200019093
|
0.00001
|
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp)
|
rs778544623
|
0.00001
|
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn)
|
rs745528957
|
0.00001
|
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg)
|
rs1064795616
|
0.00001
|
NM_000393.5(COL5A2):c.270G>A (p.Gly90=)
|
rs756103588
|
0.00001
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=)
|
rs372780282
|
0.00001
|
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=)
|
rs1685766903
|
0.00001
|
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=)
|
rs757271535
|
0.00001
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=)
|
rs777896102
|
0.00001
|
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=)
|
rs756259584
|
0.00001
|
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser)
|
rs187336363
|
0.00001
|
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=)
|
rs746246121
|
0.00001
|
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=)
|
rs1576490715
|
0.00001
|
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp)
|
rs770974455
|
0.00001
|
NM_000393.5(COL5A2):c.3290C>T (p.Ala1097Val)
|
rs1162768110
|
0.00001
|
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=)
|
rs574148843
|
0.00001
|
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=)
|
rs140022057
|
0.00001
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val)
|
rs1064795177
|
0.00001
|
NM_000393.5(COL5A2):c.3883A>G (p.Thr1295Ala)
|
rs765068787
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)
|
rs372897632
|
0.00001
|
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)
|
rs141206016
|
0.00001
|
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=)
|
rs755092575
|
0.00001
|
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr)
|
rs754240060
|
0.00001
|
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)
|
rs146982082
|
0.00001
|
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)
|
rs1430667498
|
0.00001
|
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
|
rs531204336
|
0.00001
|
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala)
|
rs1218677057
|
0.00001
|
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala)
|
rs1686805632
|
0.00001
|
NM_000393.5(COL5A2):c.587C>A (p.Ala196Asp)
|
rs746671710
|
0.00001
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
NM_000393.5(COL5A2):c.798+5G>A
|
rs1296613540
|
0.00001
|
NM_000393.5(COL5A2):c.1005+4T>C
|
|
|
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)
|
rs538602187
|
|
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=)
|
rs863223488
|
|
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln)
|
rs766119748
|
|
NM_000393.5(COL5A2):c.134G>A (p.Gly45Asp)
|
|
|
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro)
|
rs548441536
|
|
NM_000393.5(COL5A2):c.1354C>T (p.Pro452Ser)
|
|
|
NM_000393.5(COL5A2):c.1394G>T (p.Gly465Val)
|
rs886039081
|
|
NM_000393.5(COL5A2):c.141G>A (p.Met47Ile)
|
rs1553519048
|
|
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=)
|
rs368133226
|
|
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
|
|
|
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.151A>C (p.Arg51=)
|
|
|
NM_000393.5(COL5A2):c.1539T>C (p.Gly513=)
|
|
|
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
NM_000393.5(COL5A2):c.1588C>G (p.Pro530Ala)
|
rs772872008
|
|
NM_000393.5(COL5A2):c.1627G>A (p.Gly543Arg)
|
|
|
NM_000393.5(COL5A2):c.1642G>A (p.Val548Ile)
|
|
|
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)
|
rs730880066
|
|
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser)
|
rs372910621
|
|
NM_000393.5(COL5A2):c.1728A>C (p.Gly576=)
|
|
|
NM_000393.5(COL5A2):c.1737T>C (p.Gly579=)
|
|
|
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
|
|
|
NM_000393.5(COL5A2):c.1808G>C (p.Gly603Ala)
|
rs1553515338
|
|
NM_000393.5(COL5A2):c.180G>A (p.Gln60=)
|
rs759303686
|
|
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
|
|
|
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
|
|
|
NM_000393.5(COL5A2):c.191G>C (p.Cys64Ser)
|
|
|
NM_000393.5(COL5A2):c.1923+3dup
|
rs1553515318
|
|
NM_000393.5(COL5A2):c.2009C>A (p.Pro670His)
|
|
|
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=)
|
rs1553515128
|
|
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
|
|
|
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=)
|
rs1307423893
|
|
NM_000393.5(COL5A2):c.2181C>T (p.Leu727=)
|
|
|
NM_000393.5(COL5A2):c.2200G>A (p.Ala734Thr)
|
|
|
NM_000393.5(COL5A2):c.2223C>G (p.Gly741=)
|
|
|
NM_000393.5(COL5A2):c.2232C>A (p.Gly744=)
|
|
|
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=)
|
rs928855762
|
|
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
|
|
|
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser)
|
rs781215270
|
|
NM_000393.5(COL5A2):c.2355A>G (p.Lys785=)
|
|
|
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
|
|
|
NM_000393.5(COL5A2):c.2412C>T (p.Gly804=)
|
|
|
NM_000393.5(COL5A2):c.247G>T (p.Ala83Ser)
|
rs1553519033
|
|
NM_000393.5(COL5A2):c.2489G>C (p.Arg830Pro)
|
|
|
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly)
|
rs367718811
|
|
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
|
|
|
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr)
|
rs863223506
|
|
NM_000393.5(COL5A2):c.261G>T (p.Thr87=)
|
|
|
NM_000393.5(COL5A2):c.2634A>T (p.Gln878His)
|
|
|
NM_000393.5(COL5A2):c.271G>C (p.Glu91Gln)
|
rs730880065
|
|
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=)
|
|
|
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro)
|
rs761988412
|
|
NM_000393.5(COL5A2):c.2838C>T (p.Asp946=)
|
|
|
NM_000393.5(COL5A2):c.2849A>G (p.His950Arg)
|
rs761035694
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.2871A>G (p.Gly957=)
|
|
|
NM_000393.5(COL5A2):c.2997G>C (p.Gly999=)
|
|
|
NM_000393.5(COL5A2):c.3049G>C (p.Gly1017Arg)
|
|
|
NM_000393.5(COL5A2):c.3056T>C (p.Val1019Ala)
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=)
|
rs774936724
|
|
NM_000393.5(COL5A2):c.3093T>C (p.Pro1031=)
|
|
|
NM_000393.5(COL5A2):c.3171C>A (p.Thr1057=)
|
|
|
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=)
|
rs374549843
|
|
NM_000393.5(COL5A2):c.3200G>C (p.Arg1067Pro)
|
|
|
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
|
|
|
NM_000393.5(COL5A2):c.3310-4T>G
|
rs2153507285
|
|
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val)
|
rs981465775
|
|
NM_000393.5(COL5A2):c.3426G>A (p.Lys1142=)
|
|
|
NM_000393.5(COL5A2):c.3465C>A (p.Gly1155=)
|
|
|
NM_000393.5(COL5A2):c.3465C>G (p.Gly1155=)
|
|
|
NM_000393.5(COL5A2):c.3472-3T>A
|
|
|
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
|
|
|
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe)
|
rs768807471
|
|
NM_000393.5(COL5A2):c.3521C>T (p.Pro1174Leu)
|
|
|
NM_000393.5(COL5A2):c.3592C>T (p.Pro1198Ser)
|
|
|
NM_000393.5(COL5A2):c.3649C>T (p.Pro1217Ser)
|
|
|
NM_000393.5(COL5A2):c.3675C>T (p.Pro1225=)
|
rs1576486602
|
|
NM_000393.5(COL5A2):c.3689C>T (p.Thr1230Ile)
|
|
|
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
|
|
|
NM_000393.5(COL5A2):c.3707T>A (p.Ile1236Asn)
|
|
|
NM_000393.5(COL5A2):c.3737A>G (p.Asp1246Gly)
|
|
|
NM_000393.5(COL5A2):c.3747T>C (p.Pro1249=)
|
|
|
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
|
|
|
NM_000393.5(COL5A2):c.3852C>T (p.Ser1284=)
|
|
|
NM_000393.5(COL5A2):c.3967G>A (p.Ala1323Thr)
|
|
|
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=)
|
rs775697182
|
|
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)
|
rs372226064
|
|
NM_000393.5(COL5A2):c.4122T>C (p.Tyr1374=)
|
|
|
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
|
|
|
NM_000393.5(COL5A2):c.4176T>A (p.Leu1392=)
|
|
|
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
|
|
|
NM_000393.5(COL5A2):c.4308G>A (p.Glu1436=)
|
|
|
NM_000393.5(COL5A2):c.4350C>T (p.Cys1450=)
|
|
|
NM_000393.5(COL5A2):c.439G>A (p.Gly147Arg)
|
|
|
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)
|
rs140109751
|
|
NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val)
|
rs886039069
|
|
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
|
|
|
NM_000393.5(COL5A2):c.4428T>C (p.Asp1476=)
|
|
|
NM_000393.5(COL5A2):c.4464A>G (p.Glu1488=)
|
|
|
NM_000393.5(COL5A2):c.4485A>T (p.Pro1495=)
|
|
|
NM_000393.5(COL5A2):c.4491T>C (p.Cys1497=)
|
|
|
NM_000393.5(COL5A2):c.454C>A (p.Pro152Thr)
|
rs1553518198
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu)
|
rs774969990
|
|
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro)
|
rs142855115
|
|
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
|
|
|
NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg)
|
rs1553517410
|
|
NM_000393.5(COL5A2):c.797A>T (p.Asp266Val)
|
|
|
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser)
|
rs1553517181
|
|
NM_000393.5(COL5A2):c.834G>A (p.Val278=)
|
|
|
NM_000393.5(COL5A2):c.861T>G (p.Arg287=)
|
rs1559094497
|
|
NM_000393.5(COL5A2):c.894G>C (p.Leu298=)
|
rs186775192
|
|
NM_000393.5(COL5A2):c.897G>C (p.Lys299Asn)
|
|
|
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.918T>A (p.Gly306=)
|
|
|
NM_000393.5(COL5A2):c.93G>A (p.Glu31=)
|
|
|
NM_000393.5(COL5A2):c.948A>C (p.Ala316=)
|
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
NM_000393.5(COL5A2):c.964G>A (p.Glu322Lys)
|
|
|
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
|
|
|
NM_000393.5(COL5A2):c.989G>A (p.Gly330Asp)
|
rs753514566
|
|