NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
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.98-13T>A
|
rs376487446
|
0.00031
|
NM_000393.5(COL5A2):c.1923+8T>C
|
rs191193125
|
0.00029
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
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.1433A>T (p.Glu478Val)
|
rs559110283
|
0.00024
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
NM_000393.5(COL5A2):c.2338-6T>C
|
rs375291199
|
0.00020
|
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=)
|
rs375110673
|
0.00019
|
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)
|
rs372170366
|
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.961-14T>C
|
rs199880428
|
0.00016
|
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)
|
rs140851866
|
0.00015
|
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser)
|
rs376971803
|
0.00014
|
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala)
|
rs542643688
|
0.00013
|
NM_000393.5(COL5A2):c.228C>T (p.Cys76=)
|
rs564136480
|
0.00013
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
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.2855G>A (p.Arg952His)
|
rs139264859
|
0.00011
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
0.00011
|
NM_000393.5(COL5A2):c.906+9A>G
|
rs761662868
|
0.00011
|
NM_000393.5(COL5A2):c.3039+7A>G
|
rs369227715
|
0.00010
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)
|
rs142895373
|
0.00010
|
NM_000393.5(COL5A2):c.2715+11T>C
|
rs371363636
|
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.2770-6T>C
|
rs770409954
|
0.00007
|
NM_000393.5(COL5A2):c.2931+18G>A
|
rs369992922
|
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.4354-20A>G
|
rs568113641
|
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.1617+9G>T
|
rs186490845
|
0.00006
|
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.3969A>C (p.Ala1323=)
|
rs1131429
|
0.00006
|
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=)
|
rs138837670
|
0.00006
|
NM_000393.5(COL5A2):c.735T>G (p.Pro245=)
|
rs148851552
|
0.00006
|
NM_000393.5(COL5A2):c.906+14A>G
|
rs768645507
|
0.00006
|
NM_000393.5(COL5A2):c.985A>G (p.Met329Val)
|
rs140785678
|
0.00006
|
NM_000393.5(COL5A2):c.1005+10C>T
|
rs767297800
|
0.00005
|
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)
|
rs370774253
|
0.00005
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys)
|
rs754429372
|
0.00005
|
NM_000393.5(COL5A2):c.3309+16A>G
|
rs369424272
|
0.00005
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
NM_000393.5(COL5A2):c.1005+11G>A
|
rs371296580
|
0.00004
|
NM_000393.5(COL5A2):c.1105-18T>C
|
rs930742709
|
0.00004
|
NM_000393.5(COL5A2):c.2292G>A (p.Pro764=)
|
rs751503520
|
0.00004
|
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=)
|
rs149574060
|
0.00004
|
NM_000393.5(COL5A2):c.3525+9del
|
rs1279747855
|
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.3613G>A (p.Val1205Ile)
|
rs377660244
|
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.398C>T (p.Pro133Leu)
|
rs374225489
|
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.4453A>C (p.Thr1485Pro)
|
rs11553463
|
0.00004
|
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)
|
rs371225266
|
0.00004
|
NM_000393.5(COL5A2):c.567+7T>C
|
rs755666206
|
0.00004
|
NM_000393.5(COL5A2):c.744+18A>G
|
rs373820975
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_000393.5(COL5A2):c.907-5C>A
|
rs756538217
|
0.00004
|
NM_000393.5(COL5A2):c.1006-8G>A
|
rs200405052
|
0.00003
|
NM_000393.5(COL5A2):c.1059+8T>C
|
rs200968159
|
0.00003
|
NM_000393.5(COL5A2):c.1159-7C>A
|
rs377321742
|
0.00003
|
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr)
|
rs746339285
|
0.00003
|
NM_000393.5(COL5A2):c.1869+17A>G
|
rs776780834
|
0.00003
|
NM_000393.5(COL5A2):c.1923+11A>G
|
rs368776400
|
0.00003
|
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys)
|
rs201961021
|
0.00003
|
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
|
rs267599127
|
0.00003
|
NM_000393.5(COL5A2):c.3148-15C>T
|
rs901541312
|
0.00003
|
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu)
|
rs753383064
|
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.4138C>T (p.Pro1380Ser)
|
rs145755198
|
0.00003
|
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)
|
rs1436390158
|
0.00003
|
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)
|
rs762653511
|
0.00003
|
NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr)
|
rs753194366
|
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.602A>C (p.Lys201Thr)
|
rs758156613
|
0.00003
|
NM_000393.5(COL5A2):c.691-4G>A
|
rs767803370
|
0.00003
|
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr)
|
rs148005959
|
0.00003
|
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr)
|
rs200839338
|
0.00002
|
NM_000393.5(COL5A2):c.1564-8A>T
|
rs776187028
|
0.00002
|
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser)
|
rs200205564
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.1716+13C>G
|
rs779517028
|
0.00002
|
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=)
|
rs765364009
|
0.00002
|
NM_000393.5(COL5A2):c.2446-17T>G
|
rs774566945
|
0.00002
|
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=)
|
rs375877757
|
0.00002
|
NM_000393.5(COL5A2):c.2662-13T>G
|
rs764874823
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=)
|
rs1060504380
|
0.00002
|
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser)
|
rs909634945
|
0.00002
|
NM_000393.5(COL5A2):c.3040-8T>C
|
rs886055355
|
0.00002
|
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser)
|
rs773168254
|
0.00002
|
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val)
|
rs766499543
|
0.00002
|
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)
|
rs748601646
|
0.00002
|
NM_000393.5(COL5A2):c.3363+18G>T
|
rs1465568437
|
0.00002
|
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)
|
rs144890303
|
0.00002
|
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser)
|
rs780899667
|
0.00002
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
NM_000393.5(COL5A2):c.3792G>A (p.Thr1264=)
|
rs773058827
|
0.00002
|
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly)
|
rs555111281
|
0.00002
|
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys)
|
rs1247714244
|
0.00002
|
NM_000393.5(COL5A2):c.4114-14C>G
|
rs777751790
|
0.00002
|
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=)
|
rs965891508
|
0.00002
|
NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn)
|
rs550723518
|
0.00002
|
NM_000393.5(COL5A2):c.44T>C (p.Ile15Thr)
|
rs369394572
|
0.00002
|
NM_000393.5(COL5A2):c.568-11C>T
|
rs375129913
|
0.00002
|
NM_000393.5(COL5A2):c.799-6A>G
|
rs111586240
|
0.00002
|
NM_000393.5(COL5A2):c.1059+13G>C
|
rs1559093269
|
0.00001
|
NM_000393.5(COL5A2):c.1059+15T>C
|
rs772728428
|
0.00001
|
NM_000393.5(COL5A2):c.1059+9A>G
|
rs776100559
|
0.00001
|
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln)
|
rs761072017
|
0.00001
|
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg)
|
rs760117362
|
0.00001
|
NM_000393.5(COL5A2):c.1158+14G>A
|
rs1057523022
|
0.00001
|
NM_000393.5(COL5A2):c.1159-10A>G
|
rs767892138
|
0.00001
|
NM_000393.5(COL5A2):c.1159-13T>C
|
rs756321922
|
0.00001
|
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=)
|
rs863223485
|
0.00001
|
NM_000393.5(COL5A2):c.1302+9T>C
|
rs1199559237
|
0.00001
|
NM_000393.5(COL5A2):c.1365G>A (p.Gln455=)
|
rs1200615943
|
0.00001
|
NM_000393.5(COL5A2):c.142T>C (p.Tyr48His)
|
rs750126490
|
0.00001
|
NM_000393.5(COL5A2):c.1456-10T>C
|
rs918840882
|
0.00001
|
NM_000393.5(COL5A2):c.1527A>C (p.Pro509=)
|
rs202234821
|
0.00001
|
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=)
|
rs770622592
|
0.00001
|
NM_000393.5(COL5A2):c.1611G>A (p.Gly537=)
|
rs1686117535
|
0.00001
|
NM_000393.5(COL5A2):c.1618-17G>A
|
rs1272843185
|
0.00001
|
NM_000393.5(COL5A2):c.1618-8C>T
|
rs746841809
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.1698T>G (p.Pro566=)
|
rs1483483512
|
0.00001
|
NM_000393.5(COL5A2):c.1704T>C (p.Leu568=)
|
rs776228988
|
0.00001
|
NM_000393.5(COL5A2):c.1716+12G>A
|
rs745767713
|
0.00001
|
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
|
rs544303636
|
0.00001
|
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu)
|
rs746458284
|
0.00001
|
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=)
|
rs140541824
|
0.00001
|
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr)
|
rs904166744
|
0.00001
|
NM_000393.5(COL5A2):c.2031+14C>T
|
rs749030256
|
0.00001
|
NM_000393.5(COL5A2):c.2121A>G (p.Leu707=)
|
rs1247190308
|
0.00001
|
NM_000393.5(COL5A2):c.2131-16C>T
|
rs1187598016
|
0.00001
|
NM_000393.5(COL5A2):c.2131-5G>T
|
rs1219841781
|
0.00001
|
NM_000393.5(COL5A2):c.2138G>A (p.Arg713Gln)
|
rs776302656
|
0.00001
|
NM_000393.5(COL5A2):c.2229+10A>G
|
rs1269243284
|
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.2400A>G (p.Pro800=)
|
rs1335810893
|
0.00001
|
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)
|
rs575864379
|
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.2499+18G>T
|
rs1275018864
|
0.00001
|
NM_000393.5(COL5A2):c.2500-12G>T
|
rs749087232
|
0.00001
|
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn)
|
rs745528957
|
0.00001
|
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=)
|
rs1192759045
|
0.00001
|
NM_000393.5(COL5A2):c.2554-5T>C
|
rs373495598
|
0.00001
|
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met)
|
rs778591411
|
0.00001
|
NM_000393.5(COL5A2):c.2623C>T (p.Pro875Ser)
|
rs754389345
|
0.00001
|
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
|
rs760858324
|
0.00001
|
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)
|
rs773515722
|
0.00001
|
NM_000393.5(COL5A2):c.2715+12T>G
|
rs369677461
|
0.00001
|
NM_000393.5(COL5A2):c.2715+16G>A
|
rs774654781
|
0.00001
|
NM_000393.5(COL5A2):c.2715+18T>G
|
rs781686307
|
0.00001
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
NM_000393.5(COL5A2):c.2745C>A (p.Gly915=)
|
rs778360315
|
0.00001
|
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser)
|
rs1189019903
|
0.00001
|
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=)
|
rs141089340
|
0.00001
|
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)
|
rs761988412
|
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.2943C>T (p.Gly981=)
|
rs771950850
|
0.00001
|
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=)
|
rs757271535
|
0.00001
|
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)
|
rs1354785209
|
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.3071C>T (p.Ala1024Val)
|
rs763462242
|
0.00001
|
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser)
|
rs187336363
|
0.00001
|
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=)
|
rs769755441
|
0.00001
|
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=)
|
rs746246121
|
0.00001
|
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys)
|
rs779213867
|
0.00001
|
NM_000393.5(COL5A2):c.3201+8C>A
|
rs751150447
|
0.00001
|
NM_000393.5(COL5A2):c.324T>C (p.Gly108=)
|
rs201881801
|
0.00001
|
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=)
|
rs1576490715
|
0.00001
|
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln)
|
rs369725456
|
0.00001
|
NM_000393.5(COL5A2):c.3330A>G (p.Gly1110=)
|
rs928228342
|
0.00001
|
NM_000393.5(COL5A2):c.3336T>A (p.Pro1112=)
|
rs773532298
|
0.00001
|
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)
|
rs886055354
|
0.00001
|
NM_000393.5(COL5A2):c.3406C>A (p.Arg1136=)
|
rs754843093
|
0.00001
|
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=)
|
rs754108091
|
0.00001
|
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=)
|
rs140022057
|
0.00001
|
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala)
|
rs863223496
|
0.00001
|
NM_000393.5(COL5A2):c.3633+12A>G
|
rs886055353
|
0.00001
|
NM_000393.5(COL5A2):c.3633+14G>T
|
rs776087725
|
0.00001
|
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
|
rs1056466895
|
0.00001
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
|
rs762902468
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser)
|
rs766162092
|
0.00001
|
NM_000393.5(COL5A2):c.3881G>A (p.Arg1294His)
|
rs150063612
|
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.3925+17C>T
|
rs1685506449
|
0.00001
|
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)
|
rs141206016
|
0.00001
|
NM_000393.5(COL5A2):c.4089T>G (p.Gly1363=)
|
rs753760854
|
0.00001
|
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=)
|
rs755092575
|
0.00001
|
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala)
|
rs370026245
|
0.00001
|
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
|
rs754932150
|
0.00001
|
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)
|
rs146982082
|
0.00001
|
NM_000393.5(COL5A2):c.4353+9T>C
|
rs776352996
|
0.00001
|
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met)
|
rs745935107
|
0.00001
|
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)
|
rs1430667498
|
0.00001
|
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)
|
rs781760462
|
0.00001
|
NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=)
|
rs1193385199
|
0.00001
|
NM_000393.5(COL5A2):c.464G>A (p.Arg155His)
|
rs754702218
|
0.00001
|
NM_000393.5(COL5A2):c.528T>A (p.Pro176=)
|
rs751404827
|
0.00001
|
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu)
|
rs766179958
|
0.00001
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
NM_000393.5(COL5A2):c.615G>A (p.Gly205=)
|
rs757199738
|
0.00001
|
NM_000393.5(COL5A2):c.687G>A (p.Gln229=)
|
rs1010903537
|
0.00001
|
NM_000393.5(COL5A2):c.690+17T>C
|
rs1171215082
|
0.00001
|
NM_000393.5(COL5A2):c.690+9C>G
|
rs745863682
|
0.00001
|
NM_000393.5(COL5A2):c.691-15T>G
|
rs756189756
|
0.00001
|
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser)
|
rs763287143
|
0.00001
|
NM_000393.5(COL5A2):c.798+15C>T
|
rs1476791697
|
0.00001
|
NM_000393.5(COL5A2):c.878C>T (p.Pro293Leu)
|
rs754230712
|
0.00001
|
NM_000393.5(COL5A2):c.961-10T>G
|
rs770126461
|
0.00001
|
NM_000393.5(COL5A2):c.969T>C (p.Ala323=)
|
rs781515066
|
0.00001
|
NM_000393.5(COL5A2):c.1005+7G>A
|
rs1402008959
|
|
NM_000393.5(COL5A2):c.1006-11A>G
|
|
|
NM_000393.5(COL5A2):c.1006-19del
|
|
|
NM_000393.5(COL5A2):c.1006-20T>C
|
|
|
NM_000393.5(COL5A2):c.1035G>A (p.Gly345=)
|
|
|
NM_000393.5(COL5A2):c.1059+11_1059+12del
|
|
|
NM_000393.5(COL5A2):c.1059+8T>G
|
|
|
NM_000393.5(COL5A2):c.1060-7T>C
|
rs754055737
|
|
NM_000393.5(COL5A2):c.1074A>C (p.Ala358=)
|
|
|
NM_000393.5(COL5A2):c.10A>G (p.Asn4Asp)
|
|
|
NM_000393.5(COL5A2):c.1105-11T>G
|
rs1057523251
|
|
NM_000393.5(COL5A2):c.1105-13T>A
|
|
|
NM_000393.5(COL5A2):c.1119A>G (p.Ile373Met)
|
|
|
NM_000393.5(COL5A2):c.1122A>G (p.Pro374=)
|
|
|
NM_000393.5(COL5A2):c.1158+20A>G
|
|
|
NM_000393.5(COL5A2):c.1159-11C>T
|
|
|
NM_000393.5(COL5A2):c.1159-12G>C
|
|
|
NM_000393.5(COL5A2):c.1159-16C>T
|
|
|
NM_000393.5(COL5A2):c.1159-18C>T
|
|
|
NM_000393.5(COL5A2):c.1159-8C>T
|
rs1273116792
|
|
NM_000393.5(COL5A2):c.1165G>T (p.Ala389Ser)
|
|
|
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=)
|
rs1553515878
|
|
NM_000393.5(COL5A2):c.117A>T (p.Ile39=)
|
rs1060504379
|
|
NM_000393.5(COL5A2):c.1190C>T (p.Pro397Leu)
|
rs1189039397
|
|
NM_000393.5(COL5A2):c.1203G>A (p.Gln401=)
|
|
|
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser)
|
rs1042644306
|
|
NM_000393.5(COL5A2):c.1244C>G (p.Ser415Cys)
|
|
|
NM_000393.5(COL5A2):c.1257+11A>G
|
|
|
NM_000393.5(COL5A2):c.1257+12G>A
|
rs759316090
|
|
NM_000393.5(COL5A2):c.1257+13C>A
|
|
|
NM_000393.5(COL5A2):c.1302+17T>C
|
|
|
NM_000393.5(COL5A2):c.1302+20C>T
|
|
|
NM_000393.5(COL5A2):c.1303-8T>C
|
|
|
NM_000393.5(COL5A2):c.1308T>C (p.Ser436=)
|
|
|
NM_000393.5(COL5A2):c.1350A>T (p.Gly450=)
|
|
|
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro)
|
rs548441536
|
|
NM_000393.5(COL5A2):c.1402-10T>A
|
|
|
NM_000393.5(COL5A2):c.1402-13A>G
|
|
|
NM_000393.5(COL5A2):c.1402-17C>T
|
|
|
NM_000393.5(COL5A2):c.1402-5T>C
|
|
|
NM_000393.5(COL5A2):c.1443A>C (p.Pro481=)
|
rs1686160458
|
|
NM_000393.5(COL5A2):c.1455+20A>T
|
rs2105600190
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1456-11G>A
|
|
|
NM_000393.5(COL5A2):c.1456-16C>T
|
|
|
NM_000393.5(COL5A2):c.1456-17C>A
|
|
|
NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)
|
|
|
NM_000393.5(COL5A2):c.1459C>T (p.Pro487Ser)
|
|
|
NM_000393.5(COL5A2):c.1464T>C (p.His488=)
|
|
|
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
|
|
|
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1494T>C (p.Gly498=)
|
|
|
NM_000393.5(COL5A2):c.1514C>T (p.Pro505Leu)
|
rs1234716349
|
|
NM_000393.5(COL5A2):c.1532C>G (p.Thr511Arg)
|
|
|
NM_000393.5(COL5A2):c.1563+11A>G
|
|
|
NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)
|
|
|
NM_000393.5(COL5A2):c.1596T>G (p.Ser532=)
|
|
|
NM_000393.5(COL5A2):c.1617+12del
|
|
|
NM_000393.5(COL5A2):c.1617+17A>G
|
|
|
NM_000393.5(COL5A2):c.1617+8T>G
|
|
|
NM_000393.5(COL5A2):c.1617+9G>A
|
|
|
NM_000393.5(COL5A2):c.1625A>T (p.Gln542Leu)
|
|
|
NM_000393.5(COL5A2):c.1626A>G (p.Gln542=)
|
rs745880832
|
|
NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)
|
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1674G>T (p.Gly558=)
|
|
|
NM_000393.5(COL5A2):c.1680A>C (p.Pro560=)
|
|
|
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser)
|
rs372910621
|
|
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=)
|
rs1576503230
|
|
NM_000393.5(COL5A2):c.1717-10T>G
|
|
|
NM_000393.5(COL5A2):c.1717-15G>T
|
|
|
NM_000393.5(COL5A2):c.1770+12A>T
|
rs915090349
|
|
NM_000393.5(COL5A2):c.1770+14A>G
|
|
|
NM_000393.5(COL5A2):c.1771-7T>A
|
|
|
NM_000393.5(COL5A2):c.1771-7_1771-6insTA
|
rs777484785
|
|
NM_000393.5(COL5A2):c.1773T>A (p.Gly591=)
|
rs2105591117
|
|
NM_000393.5(COL5A2):c.1775C>G (p.Ala592Gly)
|
|
|
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)
|
rs145169816
|
|
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
|
|
|
NM_000393.5(COL5A2):c.1809C>A (p.Gly603=)
|
|
|
NM_000393.5(COL5A2):c.180G>A (p.Gln60=)
|
rs759303686
|
|
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=)
|
rs1576502365
|
|
NM_000393.5(COL5A2):c.1830G>A (p.Gln610=)
|
|
|
NM_000393.5(COL5A2):c.1832C>T (p.Pro611Leu)
|
|
|
NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)
|
|
|
NM_000393.5(COL5A2):c.1854C>A (p.Gly618=)
|
|
|
NM_000393.5(COL5A2):c.1869+14A>G
|
|
|
NM_000393.5(COL5A2):c.1869+16A>G
|
|
|
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
|
|
|
NM_000393.5(COL5A2):c.1954C>A (p.Pro652Thr)
|
|
|
NM_000393.5(COL5A2):c.1955C>T (p.Pro652Leu)
|
rs766743234
|
|
NM_000393.5(COL5A2):c.1959T>C (p.Ser653=)
|
|
|
NM_000393.5(COL5A2):c.1971C>T (p.Gly657=)
|
rs1686065633
|
|
NM_000393.5(COL5A2):c.1974G>A (p.Pro658=)
|
|
|
NM_000393.5(COL5A2):c.1977+10T>C
|
|
|
NM_000393.5(COL5A2):c.1977+13dup
|
|
|
NM_000393.5(COL5A2):c.1977+8A>G
|
|
|
NM_000393.5(COL5A2):c.1977+9T>C
|
|
|
NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)
|
|
|
NM_000393.5(COL5A2):c.2013A>G (p.Pro671=)
|
rs2105586702
|
|
NM_000393.5(COL5A2):c.2019C>T (p.Pro673=)
|
rs2105586689
|
|
NM_000393.5(COL5A2):c.2032-13A>T
|
|
|
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=)
|
rs1553515128
|
|
NM_000393.5(COL5A2):c.2061A>C (p.Gly687=)
|
rs2105584664
|
|
NM_000393.5(COL5A2):c.2085+10T>C
|
|
|
NM_000393.5(COL5A2):c.2085+19A>G
|
rs2105584543
|
|
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
|
|
|
NM_000393.5(COL5A2):c.2130+13A>G
|
|
|
NM_000393.5(COL5A2):c.2130+16T>G
|
|
|
NM_000393.5(COL5A2):c.2131-15C>A
|
|
|
NM_000393.5(COL5A2):c.2151G>A (p.Gly717=)
|
|
|
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=)
|
rs1272808206
|
|
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=)
|
rs1307423893
|
|
NM_000393.5(COL5A2):c.2193G>A (p.Lys731=)
|
|
|
NM_000393.5(COL5A2):c.2229+14T>G
|
|
|
NM_000393.5(COL5A2):c.2229+15G>A
|
|
|
NM_000393.5(COL5A2):c.2229+8T>C
|
|
|
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=)
|
rs928855762
|
|
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
|
|
|
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=)
|
rs369130743
|
|
NM_000393.5(COL5A2):c.2310A>G (p.Ala770=)
|
|
|
NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)
|
|
|
NM_000393.5(COL5A2):c.2329G>T (p.Gly777Cys)
|
|
|
NM_000393.5(COL5A2):c.2337+11T>C
|
|
|
NM_000393.5(COL5A2):c.2337+18_2337+29del
|
|
|
NM_000393.5(COL5A2):c.2337+8C>T
|
rs999144463
|
|
NM_000393.5(COL5A2):c.2337+8_2337+10del
|
|
|
NM_000393.5(COL5A2):c.2337+8_2337+11del
|
rs2105574989
|
|
NM_000393.5(COL5A2):c.2338-12G>T
|
|
|
NM_000393.5(COL5A2):c.2338-15T>G
|
|
|
NM_000393.5(COL5A2):c.2340T>A (p.Gly780=)
|
|
|
NM_000393.5(COL5A2):c.2392-15_2392-14insTGTTG
|
|
|
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
|
|
|
NM_000393.5(COL5A2):c.2445+15G>A
|
rs767821578
|
|
NM_000393.5(COL5A2):c.2445+19A>C
|
|
|
NM_000393.5(COL5A2):c.2445+8A>G
|
|
|
NM_000393.5(COL5A2):c.2446-11C>T
|
|
|
NM_000393.5(COL5A2):c.2446-5T>C
|
rs1685846142
|
|
NM_000393.5(COL5A2):c.2446-7T>C
|
rs1685846268
|
|
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=)
|
rs749675749
|
|
NM_000393.5(COL5A2):c.2493C>G (p.Gly831=)
|
|
|
NM_000393.5(COL5A2):c.2499+10A>G
|
rs886055356
|
|
NM_000393.5(COL5A2):c.2499+16_2499+17dup
|
|
|
NM_000393.5(COL5A2):c.2499+19G>C
|
|
|
NM_000393.5(COL5A2):c.2499+8A>G
|
|
|
NM_000393.5(COL5A2):c.2499+9C>G
|
|
|
NM_000393.5(COL5A2):c.2500-14_2500-13del
|
rs2105565157
|
|
NM_000393.5(COL5A2):c.2500-16C>G
|
|
|
NM_000393.5(COL5A2):c.2500-5C>T
|
rs1306555149
|
|
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly)
|
rs367718811
|
|
NM_000393.5(COL5A2):c.250G>C (p.Asp84His)
|
rs745528957
|
|
NM_000393.5(COL5A2):c.2538T>A (p.Gly846=)
|
|
|
NM_000393.5(COL5A2):c.2553+11C>T
|
|
|
NM_000393.5(COL5A2):c.2553+20C>T
|
|
|
NM_000393.5(COL5A2):c.2554-10T>A
|
|
|
NM_000393.5(COL5A2):c.2571T>C (p.Pro857=)
|
|
|
NM_000393.5(COL5A2):c.2598A>G (p.Pro866=)
|
rs757721541
|
|
NM_000393.5(COL5A2):c.2614G>T (p.Ala872Ser)
|
|
|
NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)
|
|
|
NM_000393.5(COL5A2):c.2661+10C>A
|
|
|
NM_000393.5(COL5A2):c.2661+10C>T
|
|
|
NM_000393.5(COL5A2):c.2661+11A>G
|
|
|
NM_000393.5(COL5A2):c.2661+16_2661+17insCTTGAGTC
|
|
|
NM_000393.5(COL5A2):c.2661+20G>T
|
rs79623676
|
|
NM_000393.5(COL5A2):c.2662-16G>C
|
|
|
NM_000393.5(COL5A2):c.2662-6A>G
|
|
|
NM_000393.5(COL5A2):c.2703C>A (p.Thr901=)
|
|
|
NM_000393.5(COL5A2):c.2715+14A>G
|
|
|
NM_000393.5(COL5A2):c.2715+15T>C
|
|
|
NM_000393.5(COL5A2):c.2716-20A>G
|
|
|
NM_000393.5(COL5A2):c.273A>G (p.Glu91=)
|
|
|
NM_000393.5(COL5A2):c.2769+13A>C
|
|
|
NM_000393.5(COL5A2):c.2769+14G>C
|
|
|
NM_000393.5(COL5A2):c.2769+20C>T
|
|
|
NM_000393.5(COL5A2):c.2770-14_2770-11del
|
|
|
NM_000393.5(COL5A2):c.2770-14del
|
|
|
NM_000393.5(COL5A2):c.2770-18C>T
|
|
|
NM_000393.5(COL5A2):c.2770-4C>T
|
rs1576494559
|
|
NM_000393.5(COL5A2):c.27A>G (p.Arg9=)
|
|
|
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=)
|
rs1576494477
|
|
NM_000393.5(COL5A2):c.2830C>T (p.Arg944Cys)
|
|
|
NM_000393.5(COL5A2):c.2835G>A (p.Gly945=)
|
|
|
NM_000393.5(COL5A2):c.2859G>A (p.Val953=)
|
rs1685784025
|
|
NM_000393.5(COL5A2):c.2880C>T (p.Gly960=)
|
|
|
NM_000393.5(COL5A2):c.2892C>A (p.Gly964=)
|
|
|
NM_000393.5(COL5A2):c.2892C>T (p.Gly964=)
|
rs2105558761
|
|
NM_000393.5(COL5A2):c.2901C>T (p.Asp967=)
|
rs2105558694
|
|
NM_000393.5(COL5A2):c.2907G>C (p.Gly969=)
|
rs2105558672
|
|
NM_000393.5(COL5A2):c.291A>G (p.Ser97=)
|
|
|
NM_000393.5(COL5A2):c.2922T>C (p.Asp974=)
|
|
|
NM_000393.5(COL5A2):c.2931+10G>A
|
|
|
NM_000393.5(COL5A2):c.2931+12G>A
|
|
|
NM_000393.5(COL5A2):c.2931+17C>T
|
|
|
NM_000393.5(COL5A2):c.2932-11C>T
|
rs1158417509
|
|
NM_000393.5(COL5A2):c.296C>T (p.Thr99Ile)
|
|
|
NM_000393.5(COL5A2):c.3002G>A (p.Arg1001His)
|
|
|
NM_000393.5(COL5A2):c.3003T>A (p.Arg1001=)
|
|
|
NM_000393.5(COL5A2):c.3015C>T (p.Gly1005=)
|
|
|
NM_000393.5(COL5A2):c.3039+13A>G
|
|
|
NM_000393.5(COL5A2):c.3039+16G>A
|
|
|
NM_000393.5(COL5A2):c.3039+8G>A
|
|
|
NM_000393.5(COL5A2):c.303A>G (p.Gly101=)
|
|
|
NM_000393.5(COL5A2):c.3040-19A>G
|
|
|
NM_000393.5(COL5A2):c.3040-7A>G
|
rs1236877990
|
|
NM_000393.5(COL5A2):c.3044C>A (p.Thr1015Lys)
|
|
|
NM_000393.5(COL5A2):c.3064A>C (p.Thr1022Pro)
|
|
|
NM_000393.5(COL5A2):c.306T>C (p.Gly102=)
|
|
|
NM_000393.5(COL5A2):c.3070G>A (p.Ala1024Thr)
|
|
|
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=)
|
rs774936724
|
|
NM_000393.5(COL5A2):c.3108C>A (p.Pro1036=)
|
rs2153507896
|
|
NM_000393.5(COL5A2):c.3114C>T (p.Gly1038=)
|
|
|
NM_000393.5(COL5A2):c.3147+12A>G
|
|
|
NM_000393.5(COL5A2):c.3148-6T>G
|
|
|
NM_000393.5(COL5A2):c.3148-9T>A
|
|
|
NM_000393.5(COL5A2):c.3159C>A (p.Gly1053=)
|
|
|
NM_000393.5(COL5A2):c.3171C>G (p.Thr1057=)
|
|
|
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=)
|
rs374549843
|
|
NM_000393.5(COL5A2):c.3201+15A>C
|
|
|
NM_000393.5(COL5A2):c.3201+17T>A
|
|
|
NM_000393.5(COL5A2):c.3202-17A>G
|
|
|
NM_000393.5(COL5A2):c.3207T>C (p.Asp1069=)
|
|
|
NM_000393.5(COL5A2):c.322+10T>A
|
rs2105711790
|
|
NM_000393.5(COL5A2):c.322+7A>G
|
|
|
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
|
|
|
NM_000393.5(COL5A2):c.326G>A (p.Arg109Lys)
|
|
|
NM_000393.5(COL5A2):c.3296A>G (p.Gln1099Arg)
|
|
|
NM_000393.5(COL5A2):c.3309+20C>T
|
rs2153507358
|
|
NM_000393.5(COL5A2):c.3309+9G>A
|
|
|
NM_000393.5(COL5A2):c.3310-4T>G
|
rs2153507285
|
|
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=)
|
rs1553513577
|
|
NM_000393.5(COL5A2):c.3351A>G (p.Lys1117=)
|
|
|
NM_000393.5(COL5A2):c.3363+18_3363+21del
|
|
|
NM_000393.5(COL5A2):c.3364-10C>G
|
|
|
NM_000393.5(COL5A2):c.3364-18C>T
|
|
|
NM_000393.5(COL5A2):c.3364-5T>A
|
|
|
NM_000393.5(COL5A2):c.337-15T>C
|
|
|
NM_000393.5(COL5A2):c.337-17T>C
|
|
|
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln)
|
rs562950263
|
|
NM_000393.5(COL5A2):c.3432C>T (p.His1144=)
|
rs1685594948
|
|
NM_000393.5(COL5A2):c.3438C>G (p.Gly1146=)
|
|
|
NM_000393.5(COL5A2):c.3444T>G (p.Thr1148=)
|
rs2153507006
|
|
NM_000393.5(COL5A2):c.3447T>C (p.Gly1149=)
|
rs1576488965
|
|
NM_000393.5(COL5A2):c.3471+11C>T
|
|
|
NM_000393.5(COL5A2):c.3471+17_3471+20del
|
|
|
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe)
|
rs768807471
|
|
NM_000393.5(COL5A2):c.3525+15G>A
|
|
|
NM_000393.5(COL5A2):c.3525+15G>T
|
rs2153506949
|
|
NM_000393.5(COL5A2):c.3525+20A>C
|
|
|
NM_000393.5(COL5A2):c.3526-17G>C
|
|
|
NM_000393.5(COL5A2):c.3526-5T>G
|
|
|
NM_000393.5(COL5A2):c.3573G>T (p.Gly1191=)
|
rs2153506821
|
|
NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)
|
|
|
NM_000393.5(COL5A2):c.3633+14G>A
|
|
|
NM_000393.5(COL5A2):c.3633+17T>C
|
|
|
NM_000393.5(COL5A2):c.3633+9A>T
|
|
|
NM_000393.5(COL5A2):c.3634-4T>C
|
|
|
NM_000393.5(COL5A2):c.3642T>A (p.Pro1214=)
|
|
|
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
|
|
|
NM_000393.5(COL5A2):c.370-9A>T
|
rs2105686943
|
|
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile)
|
rs780628821
|
|
NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)
|
|
|
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=)
|
rs1576486483
|
|
NM_000393.5(COL5A2):c.3798A>G (p.Pro1266=)
|
|
|
NM_000393.5(COL5A2):c.3834G>A (p.Gln1278=)
|
rs2153506504
|
|
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
|
rs772344964
|
|
NM_000393.5(COL5A2):c.3879C>T (p.Ala1293=)
|
rs1685508284
|
|
NM_000393.5(COL5A2):c.3895C>T (p.Leu1299=)
|
|
|
NM_000393.5(COL5A2):c.3903T>C (p.Leu1301=)
|
|
|
NM_000393.5(COL5A2):c.3906C>T (p.Cys1302=)
|
rs532409377
|
|
NM_000393.5(COL5A2):c.3912C>T (p.Ser1304=)
|
|
|
NM_000393.5(COL5A2):c.3918G>A (p.Lys1306=)
|
|
|
NM_000393.5(COL5A2):c.3925+17C>G
|
rs1685506449
|
|
NM_000393.5(COL5A2):c.3926-14A>G
|
rs1377852358
|
|
NM_000393.5(COL5A2):c.3969A>G (p.Ala1323=)
|
rs1131429
|
|
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=)
|
rs775697182
|
|
NM_000393.5(COL5A2):c.402+15C>T
|
|
|
NM_000393.5(COL5A2):c.402+17A>G
|
|
|
NM_000393.5(COL5A2):c.403-15C>G
|
|
|
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=)
|
rs2153506152
|
|
NM_000393.5(COL5A2):c.4044C>A (p.Thr1348=)
|
rs1430568106
|
|
NM_000393.5(COL5A2):c.4076C>A (p.Pro1359His)
|
rs745580343
|
|
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
|
|
|
NM_000393.5(COL5A2):c.4113+16del
|
rs779762130
|
|
NM_000393.5(COL5A2):c.4113+17A>C
|
|
|
NM_000393.5(COL5A2):c.4113+18C>G
|
|
|
NM_000393.5(COL5A2):c.4114-18_4114-17del
|
rs1440458273
|
|
NM_000393.5(COL5A2):c.4114-20_4114-19del
|
|
|
NM_000393.5(COL5A2):c.4137A>G (p.Ser1379=)
|
rs2153505989
|
|
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
|
|
|
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=)
|
rs1685417610
|
|
NM_000393.5(COL5A2):c.4164T>A (p.Thr1388=)
|
|
|
NM_000393.5(COL5A2):c.4179A>G (p.Leu1393=)
|
rs200888890
|
|
NM_000393.5(COL5A2):c.4194C>G (p.Ser1398=)
|
|
|
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=)
|
rs979486002
|
|
NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)
|
|
|
NM_000393.5(COL5A2):c.426A>G (p.Pro142=)
|
|
|
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
|
|
|
NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)
|
|
|
NM_000393.5(COL5A2):c.429A>G (p.Arg143=)
|
rs1488001302
|
|
NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)
|
|
|
NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)
|
|
|
NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=)
|
rs1685413573
|
|
NM_000393.5(COL5A2):c.4353+13T>A
|
|
|
NM_000393.5(COL5A2):c.4353+14G>C
|
|
|
NM_000393.5(COL5A2):c.4353+15A>T
|
rs375110145
|
|
NM_000393.5(COL5A2):c.4353+16T>C
|
|
|
NM_000393.5(COL5A2):c.4353+20C>T
|
|
|
NM_000393.5(COL5A2):c.4353+8C>G
|
rs1057523735
|
|
NM_000393.5(COL5A2):c.4354-6T>A
|
rs1576482939
|
|
NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)
|
|
|
NM_000393.5(COL5A2):c.441G>A (p.Gly147=)
|
|
|
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
|
|
|
NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)
|
|
|
NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=)
|
rs78905646
|
|
NM_000393.5(COL5A2):c.4497G>A (p.Val1499=)
|
rs1249280287
|
|
NM_000393.5(COL5A2):c.450A>C (p.Gly150=)
|
|
|
NM_000393.5(COL5A2):c.456+10C>T
|
|
|
NM_000393.5(COL5A2):c.456+18C>T
|
rs887004952
|
|
NM_000393.5(COL5A2):c.457-18A>G
|
|
|
NM_000393.5(COL5A2):c.457-6T>A
|
rs756707881
|
|
NM_000393.5(COL5A2):c.459C>T (p.Gly153=)
|
rs2105668392
|
|
NM_000393.5(COL5A2):c.507A>G (p.Gln169=)
|
|
|
NM_000393.5(COL5A2):c.519A>C (p.Pro173=)
|
rs1553517803
|
|
NM_000393.5(COL5A2):c.534T>C (p.His178=)
|
|
|
NM_000393.5(COL5A2):c.537G>C (p.Pro179=)
|
|
|
NM_000393.5(COL5A2):c.537G>T (p.Pro179=)
|
|
|
NM_000393.5(COL5A2):c.54A>G (p.Leu18=)
|
rs2105831569
|
|
NM_000393.5(COL5A2):c.552C>G (p.Pro184=)
|
|
|
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)
|
rs775933907
|
|
NM_000393.5(COL5A2):c.559T>C (p.Leu187=)
|
|
|
NM_000393.5(COL5A2):c.567+15T>C
|
|
|
NM_000393.5(COL5A2):c.567+16T>G
|
|
|
NM_000393.5(COL5A2):c.609A>G (p.Gly203=)
|
|
|
NM_000393.5(COL5A2):c.615G>C (p.Gly205=)
|
rs757199738
|
|
NM_000393.5(COL5A2):c.645+12T>G
|
rs2105658220
|
|
NM_000393.5(COL5A2):c.690+12T>G
|
|
|
NM_000393.5(COL5A2):c.690+13A>G
|
|
|
NM_000393.5(COL5A2):c.690+14T>C
|
|
|
NM_000393.5(COL5A2):c.691-18C>A
|
rs1440268271
|
|
NM_000393.5(COL5A2):c.691-20T>C
|
|
|
NM_000393.5(COL5A2):c.693T>A (p.Gly231=)
|
|
|
NM_000393.5(COL5A2):c.744+13_744+16del
|
|
|
NM_000393.5(COL5A2):c.744+17C>G
|
|
|
NM_000393.5(COL5A2):c.744+7G>A
|
rs774993105
|
|
NM_000393.5(COL5A2):c.744+8T>A
|
rs2105650306
|
|
NM_000393.5(COL5A2):c.744+9C>T
|
rs1576516888
|
|
NM_000393.5(COL5A2):c.745-19T>C
|
|
|
NM_000393.5(COL5A2):c.745-4T>C
|
rs781426004
|
|
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)
|
rs556805686
|
|
NM_000393.5(COL5A2):c.761G>A (p.Arg254His)
|
|
|
NM_000393.5(COL5A2):c.798+10C>A
|
|
|
NM_000393.5(COL5A2):c.798+10del
|
|
|
NM_000393.5(COL5A2):c.799-13T>A
|
rs2105645853
|
|
NM_000393.5(COL5A2):c.799-18A>G
|
|
|
NM_000393.5(COL5A2):c.799-7C>T
|
rs879227018
|
|
NM_000393.5(COL5A2):c.799-8C>T
|
|
|
NM_000393.5(COL5A2):c.852+13T>G
|
rs2105645578
|
|
NM_000393.5(COL5A2):c.852+8T>C
|
rs2105645627
|
|
NM_000393.5(COL5A2):c.853-13G>A
|
rs1553516867
|
|
NM_000393.5(COL5A2):c.853-17_853-14del
|
|
|
NM_000393.5(COL5A2):c.853-8C>T
|
|
|
NM_000393.5(COL5A2):c.897G>A (p.Lys299=)
|
|
|
NM_000393.5(COL5A2):c.902A>G (p.His301Arg)
|
|
|
NM_000393.5(COL5A2):c.906+12C>G
|
rs1057521955
|
|
NM_000393.5(COL5A2):c.906+20A>G
|
|
|
NM_000393.5(COL5A2):c.907-12T>G
|
|
|
NM_000393.5(COL5A2):c.907-18T>C
|
|
|
NM_000393.5(COL5A2):c.907-19T>C
|
|
|
NM_000393.5(COL5A2):c.90C>T (p.Asp30=)
|
|
|
NM_000393.5(COL5A2):c.939A>G (p.Glu313=)
|
|
|
NM_000393.5(COL5A2):c.946G>A (p.Ala316Thr)
|
|
|
NM_000393.5(COL5A2):c.960+11A>G
|
|
|
NM_000393.5(COL5A2):c.961-15C>T
|
|
|
NM_000393.5(COL5A2):c.961-18A>G
|
|
|
NM_000393.5(COL5A2):c.97+10C>T
|
|
|
NM_000393.5(COL5A2):c.97+15T>C
|
|
|
NM_000393.5(COL5A2):c.978T>C (p.Thr326=)
|
rs1053327487
|
|
NM_000393.5(COL5A2):c.98-10C>T
|
rs2105712624
|
|
NM_000393.5(COL5A2):c.994A>T (p.Met332Leu)
|
|
|