NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)
|
rs148590409
|
0.00087
|
NM_000393.5(COL5A2):c.*848T>C
|
rs72902303
|
0.00076
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000393.5(COL5A2):c.*904A>C
|
rs778818824
|
0.00038
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
|
rs150092345
|
0.00031
|
NM_000393.5(COL5A2):c.1923+8T>C
|
rs191193125
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
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_000393.4(COL5A2):c.-176T>A
|
rs570350400
|
0.00021
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
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.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
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.*126A>G
|
rs755412373
|
0.00009
|
NM_000393.5(COL5A2):c.*1961T>C
|
rs886055346
|
0.00007
|
NM_000393.5(COL5A2):c.*401A>C
|
rs886055352
|
0.00007
|
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)
|
rs758412337
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)
|
rs199530997
|
0.00006
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
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.437G>A (p.Arg146Gln)
|
rs144430633
|
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.3201+14C>T
|
rs368713290
|
0.00005
|
NM_000393.5(COL5A2):c.*211T>A
|
rs776264833
|
0.00004
|
NM_000393.5(COL5A2):c.3310-3T>A
|
rs752705717
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
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.1006-8G>A
|
rs200405052
|
0.00003
|
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val)
|
rs370121305
|
0.00003
|
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu)
|
rs1051400743
|
0.00003
|
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser)
|
rs773726323
|
0.00003
|
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
|
rs267599127
|
0.00003
|
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His)
|
rs1039715132
|
0.00003
|
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)
|
rs151187317
|
0.00003
|
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys)
|
rs747946828
|
0.00003
|
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn)
|
rs750574093
|
0.00003
|
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu)
|
rs753383064
|
0.00003
|
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)
|
rs747653593
|
0.00003
|
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His)
|
rs143163673
|
0.00003
|
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)
|
rs762653511
|
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.697G>A (p.Ala233Thr)
|
rs148005959
|
0.00003
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
NM_000393.5(COL5A2):c.1564-8A>T
|
rs776187028
|
0.00002
|
NM_000393.5(COL5A2):c.1618-7G>A
|
rs77456219
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.1717-3C>T
|
rs760304144
|
0.00002
|
NM_000393.5(COL5A2):c.2031+3A>G
|
rs201947903
|
0.00002
|
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser)
|
rs372270389
|
0.00002
|
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser)
|
rs372904150
|
0.00002
|
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg)
|
rs1286805423
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
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.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)
|
rs748601646
|
0.00002
|
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)
|
rs144890303
|
0.00002
|
NM_000393.5(COL5A2):c.3471+3A>G
|
rs929722223
|
0.00002
|
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
|
rs1243023432
|
0.00002
|
NM_000393.5(COL5A2):c.4163C>G (p.Thr1388Ser)
|
rs771415085
|
0.00002
|
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)
|
rs760569641
|
0.00002
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
NM_000393.5(COL5A2):c.*1460A>T
|
rs886055349
|
0.00001
|
NM_000393.5(COL5A2):c.*1970T>G
|
rs548360577
|
0.00001
|
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu)
|
rs766349082
|
0.00001
|
NM_000393.5(COL5A2):c.1040T>A (p.Leu347His)
|
rs1356274894
|
0.00001
|
NM_000393.5(COL5A2):c.1246C>G (p.Pro416Ala)
|
rs1412825331
|
0.00001
|
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val)
|
rs1391129049
|
0.00001
|
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu)
|
rs757674141
|
0.00001
|
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)
|
rs778385867
|
0.00001
|
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln)
|
rs1553515798
|
0.00001
|
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)
|
rs144540534
|
0.00001
|
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser)
|
rs780495441
|
0.00001
|
NM_000393.5(COL5A2):c.1563+5A>G
|
rs777118100
|
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.1681G>A (p.Gly561Arg)
|
rs1184276149
|
0.00001
|
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His)
|
rs1199481029
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg)
|
rs863223503
|
0.00001
|
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp)
|
rs768322852
|
0.00001
|
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)
|
rs760408439
|
0.00001
|
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile)
|
rs771004951
|
0.00001
|
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
|
rs544303636
|
0.00001
|
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu)
|
rs863223505
|
0.00001
|
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=)
|
rs140541824
|
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.2008C>A (p.Pro670Thr)
|
rs904166744
|
0.00001
|
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr)
|
rs765785677
|
0.00001
|
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)
|
rs772811492
|
0.00001
|
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=)
|
rs1451386429
|
0.00001
|
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr)
|
rs372812220
|
0.00001
|
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala)
|
rs753363765
|
0.00001
|
NM_000393.5(COL5A2):c.2338-10G>A
|
rs1017894646
|
0.00001
|
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val)
|
rs1270917752
|
0.00001
|
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)
|
rs746454126
|
0.00001
|
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
|
rs1458760818
|
0.00001
|
NM_000393.5(COL5A2):c.2486C>T (p.Ser829Phe)
|
rs771633594
|
0.00001
|
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg)
|
rs1064795616
|
0.00001
|
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)
|
rs746155819
|
0.00001
|
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)
|
rs773515722
|
0.00001
|
NM_000393.5(COL5A2):c.2756C>T (p.Pro919Leu)
|
rs1388047059
|
0.00001
|
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)
|
rs747843876
|
0.00001
|
NM_000393.5(COL5A2):c.2791C>T (p.Pro931Ser)
|
rs1182035468
|
0.00001
|
NM_000393.5(COL5A2):c.2800G>C (p.Glu934Gln)
|
rs751499848
|
0.00001
|
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)
|
rs761988412
|
0.00001
|
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr)
|
rs1027615025
|
0.00001
|
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp)
|
rs759604513
|
0.00001
|
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)
|
rs1040238147
|
0.00001
|
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
|
rs768663426
|
0.00001
|
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
|
rs539362640
|
0.00001
|
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His)
|
rs780705330
|
0.00001
|
NM_000393.5(COL5A2):c.3250G>A (p.Ala1084Thr)
|
rs1432653441
|
0.00001
|
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser)
|
rs761543775
|
0.00001
|
NM_000393.5(COL5A2):c.3299G>C (p.Arg1100Thr)
|
rs942673350
|
0.00001
|
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
NM_000393.5(COL5A2):c.3363+2T>C
|
rs1559076442
|
0.00001
|
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)
|
rs886055354
|
0.00001
|
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser)
|
rs367939836
|
0.00001
|
NM_000393.5(COL5A2):c.3586A>G (p.Ile1196Val)
|
rs1271802995
|
0.00001
|
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn)
|
rs1060501907
|
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.3716A>G (p.His1239Arg)
|
rs773321546
|
0.00001
|
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val)
|
rs1064795177
|
0.00001
|
NM_000393.5(COL5A2):c.3832C>A (p.Gln1278Lys)
|
rs147767226
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn)
|
rs1194645204
|
0.00001
|
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn)
|
rs1553512886
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg)
|
rs138900123
|
0.00001
|
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu)
|
rs745580343
|
0.00001
|
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala)
|
rs1169417653
|
0.00001
|
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly)
|
rs1685415466
|
0.00001
|
NM_000393.5(COL5A2):c.4297A>T (p.Ile1433Phe)
|
rs1409867440
|
0.00001
|
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly)
|
rs371259794
|
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.4420A>G (p.Ile1474Val)
|
rs1163031439
|
0.00001
|
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala)
|
rs1218677057
|
0.00001
|
NM_000393.5(COL5A2):c.491C>A (p.Pro164Gln)
|
rs1288294024
|
0.00001
|
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile)
|
rs746289356
|
0.00001
|
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly)
|
rs773748617
|
0.00001
|
NM_000393.5(COL5A2):c.798+5G>A
|
rs1296613540
|
0.00001
|
NM_000393.5(COL5A2):c.799-7C>A
|
rs879227018
|
0.00001
|
NM_000393.5(COL5A2):c.852+4A>T
|
rs376981154
|
0.00001
|
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr)
|
rs146648810
|
0.00001
|
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys)
|
rs779241228
|
0.00001
|
NM_000393.5(COL5A2):c.911A>G (p.His304Arg)
|
rs1576513195
|
0.00001
|
NC_000002.11:g.(?_189898796)_(189953518_?)dup
|
|
|
NC_000002.12:g.(?_189078506)_(189081053_?)del
|
|
|
NC_000002.12:g.(?_189100087)_(189100159_?)del
|
|
|
NM_000393.5(COL5A2):c.*1465G>T
|
rs886055348
|
|
NM_000393.5(COL5A2):c.*1668C>G
|
rs772852972
|
|
NM_000393.5(COL5A2):c.*1764G>T
|
rs554165132
|
|
NM_000393.5(COL5A2):c.*1894C>A
|
rs886055347
|
|
NM_000393.5(COL5A2):c.*590dup
|
rs200554257
|
|
NM_000393.5(COL5A2):c.*694TA[1]
|
rs886055351
|
|
NM_000393.5(COL5A2):c.*716A>G
|
rs886055350
|
|
NM_000393.5(COL5A2):c.1005+5G>T
|
rs752557532
|
|
NM_000393.5(COL5A2):c.1006-9C>G
|
rs73978832
|
|
NM_000393.5(COL5A2):c.1010C>A (p.Pro337Gln)
|
rs766349082
|
|
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
|
|
|
NM_000393.5(COL5A2):c.1045C>T (p.Pro349Ser)
|
|
|
NM_000393.5(COL5A2):c.1059+6T>C
|
|
|
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His)
|
|
|
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)
|
|
|
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu)
|
rs776312058
|
|
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala)
|
|
|
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp)
|
rs886042913
|
|
NM_000393.5(COL5A2):c.1126T>C (p.Ser376Pro)
|
|
|
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu)
|
rs1576507871
|
|
NM_000393.5(COL5A2):c.1158+3A>G
|
|
|
NM_000393.5(COL5A2):c.1158G>A (p.Lys386=)
|
rs2105613322
|
|
NM_000393.5(COL5A2):c.1171C>T (p.Pro391Ser)
|
rs2105605678
|
|
NM_000393.5(COL5A2):c.1171_1172delinsGT (p.Pro391Val)
|
|
|
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile)
|
rs1553515880
|
|
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr)
|
rs1559108874
|
|
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala)
|
|
|
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val)
|
rs758092388
|
|
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu)
|
|
|
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly)
|
rs1686209467
|
|
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val)
|
|
|
NM_000393.5(COL5A2):c.1229C>T (p.Pro410Leu)
|
|
|
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala)
|
rs1430271322
|
|
NM_000393.5(COL5A2):c.1244C>T (p.Ser415Phe)
|
|
|
NM_000393.5(COL5A2):c.1246C>T (p.Pro416Ser)
|
rs1412825331
|
|
NM_000393.5(COL5A2):c.1255C>T (p.Pro419Ser)
|
rs1245178744
|
|
NM_000393.5(COL5A2):c.1261G>T (p.Ala421Ser)
|
|
|
NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
|
|
|
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys)
|
rs145850743
|
|
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
|
|
|
NM_000393.5(COL5A2):c.1310_1311inv (p.Pro437Leu)
|
|
|
NM_000393.5(COL5A2):c.131A>C (p.Asn44Thr)
|
|
|
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser)
|
rs1008978987
|
|
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del)
|
rs1686191596
|
|
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=)
|
rs886055357
|
|
NM_000393.5(COL5A2):c.1360C>T (p.Pro454Ser)
|
rs1686191057
|
|
NM_000393.5(COL5A2):c.1361C>T (p.Pro454Leu)
|
|
|
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly)
|
rs1686190878
|
|
NM_000393.5(COL5A2):c.136C>G (p.Gln46Glu)
|
|
|
NM_000393.5(COL5A2):c.1372A>T (p.Thr458Ser)
|
|
|
NM_000393.5(COL5A2):c.1379C>T (p.Pro460Leu)
|
rs2105603424
|
|
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)
|
rs1553515794
|
|
NM_000393.5(COL5A2):c.1402-3C>T
|
|
|
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly)
|
rs1553515681
|
|
NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile)
|
|
|
NM_000393.5(COL5A2):c.1442C>T (p.Pro481Leu)
|
|
|
NM_000393.5(COL5A2):c.1451A>C (p.Glu484Ala)
|
|
|
NM_000393.5(COL5A2):c.1453C>A (p.Pro485Thr)
|
|
|
NM_000393.5(COL5A2):c.1453C>G (p.Pro485Ala)
|
|
|
NM_000393.5(COL5A2):c.1455+6del
|
rs763475800
|
|
NM_000393.5(COL5A2):c.1456-3C>G
|
|
|
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg)
|
|
|
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro)
|
rs149305351
|
|
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp)
|
|
|
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln)
|
|
|
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu)
|
|
|
NM_000393.5(COL5A2):c.1541C>T (p.Pro514Leu)
|
|
|
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu)
|
rs371125581
|
|
NM_000393.5(COL5A2):c.1561A>G (p.Arg521Gly)
|
|
|
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His)
|
rs1260469713
|
|
NM_000393.5(COL5A2):c.1583G>A (p.Gly528Asp)
|
rs2105595796
|
|
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg)
|
rs1576503605
|
|
NM_000393.5(COL5A2):c.1617G>T (p.Lys539Asn)
|
|
|
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr)
|
|
|
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys)
|
rs863223500
|
|
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg)
|
rs778171609
|
|
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1677T>A (p.Asp559Glu)
|
|
|
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly)
|
|
|
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)
|
rs730880066
|
|
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro)
|
rs760408439
|
|
NM_000393.5(COL5A2):c.1716+13C>T
|
|
|
NM_000393.5(COL5A2):c.1718G>T (p.Gly573Val)
|
|
|
NM_000393.5(COL5A2):c.173C>A (p.Pro58His)
|
rs766925699
|
|
NM_000393.5(COL5A2):c.1753G>A (p.Gly585Arg)
|
rs1686090076
|
|
NM_000393.5(COL5A2):c.1770+4A>G
|
|
|
NM_000393.5(COL5A2):c.1770+6T>C
|
rs1686089547
|
|
NM_000393.5(COL5A2):c.1770G>A (p.Leu590=)
|
|
|
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)
|
rs145169816
|
|
NM_000393.5(COL5A2):c.1787A>T (p.Asp596Val)
|
rs768939237
|
|
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys)
|
rs1060501906
|
|
NM_000393.5(COL5A2):c.1798_1800dup (p.Gly600_Pro601insGly)
|
|
|
NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val)
|
rs2105590990
|
|
NM_000393.5(COL5A2):c.17C>A (p.Ala6Glu)
|
|
|
NM_000393.5(COL5A2):c.1801C>A (p.Pro601Thr)
|
|
|
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
|
|
|
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val)
|
rs2105590952
|
|
NM_000393.5(COL5A2):c.181A>G (p.Ile61Val)
|
|
|
NM_000393.5(COL5A2):c.182TCTGTG[1] (p.Val63_Cys64del)
|
rs1687236750
|
|
NM_000393.5(COL5A2):c.1830G>T (p.Gln610His)
|
|
|
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala)
|
rs1438423994
|
|
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)
|
|
|
NM_000393.5(COL5A2):c.1865G>A (p.Ser622Asn)
|
|
|
NM_000393.5(COL5A2):c.1868G>A (p.Ser623Asn)
|
rs2105590768
|
|
NM_000393.5(COL5A2):c.1869+3G>A
|
|
|
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu)
|
|
|
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr)
|
|
|
NM_000393.5(COL5A2):c.1923+3dup
|
rs1553515318
|
|
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser)
|
|
|
NM_000393.5(COL5A2):c.1924-17T>C
|
|
|
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser)
|
rs1686065578
|
|
NM_000393.5(COL5A2):c.1973C>A (p.Pro658Gln)
|
rs746458284
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
NM_000393.5(COL5A2):c.1978-6A>G
|
|
|
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val)
|
|
|
NM_000393.5(COL5A2):c.2031+6C>T
|
rs1686033754
|
|
NM_000393.5(COL5A2):c.2032-3T>C
|
|
|
NM_000393.5(COL5A2):c.2032-3T>G
|
|
|
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu)
|
rs1019506931
|
|
NM_000393.5(COL5A2):c.2062G>A (p.Glu688Lys)
|
|
|
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala)
|
rs541711311
|
|
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg)
|
rs142224646
|
|
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr)
|
rs146005731
|
|
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr)
|
|
|
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr)
|
|
|
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser)
|
|
|
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg)
|
|
|
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu)
|
rs1553514920
|
|
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro)
|
rs1559083259
|
|
NM_000393.5(COL5A2):c.2234G>T (p.Ser745Ile)
|
rs2105575470
|
|
NM_000393.5(COL5A2):c.2261A>G (p.Asp754Gly)
|
|
|
NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr)
|
|
|
NM_000393.5(COL5A2):c.2281C>G (p.Gln761Glu)
|
|
|
NM_000393.5(COL5A2):c.2295A>G (p.Gly765=)
|
|
|
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg)
|
rs1357408674
|
|
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly)
|
rs1032000194
|
|
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser)
|
rs781215270
|
|
NM_000393.5(COL5A2):c.2345T>A (p.Ile782Lys)
|
rs1198104925
|
|
NM_000393.5(COL5A2):c.235G>A (p.Val79Met)
|
|
|
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr)
|
|
|
NM_000393.5(COL5A2):c.2389A>G (p.Arg797Gly)
|
rs2105573986
|
|
NM_000393.5(COL5A2):c.2393G>T (p.Gly798Val)
|
|
|
NM_000393.5(COL5A2):c.2404C>A (p.Pro802Thr)
|
|
|
NM_000393.5(COL5A2):c.241G>A (p.Asp81Asn)
|
|
|
NM_000393.5(COL5A2):c.2429G>T (p.Gly810Val)
|
|
|
NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr)
|
|
|
NM_000393.5(COL5A2):c.2434A>C (p.Thr812Pro)
|
|
|
NM_000393.5(COL5A2):c.2446-13A>G
|
|
|
NM_000393.5(COL5A2):c.2446-35_2446-9del
|
rs2105566377
|
|
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)
|
|
|
NM_000393.5(COL5A2):c.2499+10A>G
|
rs886055356
|
|
NM_000393.5(COL5A2):c.2499+6T>G
|
|
|
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.2512G>A (p.Glu838Lys)
|
|
|
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
|
|
|
NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)
|
|
|
NM_000393.5(COL5A2):c.2545G>A (p.Gly849Arg)
|
rs368239207
|
|
NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg)
|
|
|
NM_000393.5(COL5A2):c.2553+5A>T
|
rs371072906
|
|
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu)
|
rs148430780
|
|
NM_000393.5(COL5A2):c.256G>A (p.Val86Ile)
|
rs1387694873
|
|
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu)
|
rs938162476
|
|
NM_000393.5(COL5A2):c.2584G>A (p.Glu862Lys)
|
rs1685823479
|
|
NM_000393.5(COL5A2):c.2587C>A (p.Pro863Thr)
|
|
|
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu)
|
rs143261719
|
|
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro)
|
rs1687234505
|
|
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys)
|
rs1553514451
|
|
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu)
|
rs886039694
|
|
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser)
|
rs760858324
|
|
NM_000393.5(COL5A2):c.2642C>T (p.Ala881Val)
|
rs1685821871
|
|
NM_000393.5(COL5A2):c.2650C>A (p.Pro884Thr)
|
|
|
NM_000393.5(COL5A2):c.2653G>A (p.Gly885Ser)
|
|
|
NM_000393.5(COL5A2):c.2661+17_2661+20delinsCTTGAGTCAAGTTAA
|
|
|
NM_000393.5(COL5A2):c.2661T>C (p.His887=)
|
|
|
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp)
|
|
|
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg)
|
rs2105563064
|
|
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln)
|
|
|
NM_000393.5(COL5A2):c.2762G>C (p.Gly921Ala)
|
rs150206569
|
|
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala)
|
rs1349278394
|
|
NM_000393.5(COL5A2):c.2780G>C (p.Gly927Ala)
|
|
|
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu)
|
rs747843876
|
|
NM_000393.5(COL5A2):c.2789G>A (p.Gly930Glu)
|
|
|
NM_000393.5(COL5A2):c.2789G>T (p.Gly930Val)
|
|
|
NM_000393.5(COL5A2):c.2806G>A (p.Gly936Arg)
|
rs1471655044
|
|
NM_000393.5(COL5A2):c.2812G>A (p.Glu938Lys)
|
rs2105559330
|
|
NM_000393.5(COL5A2):c.2816G>A (p.Gly939Glu)
|
|
|
NM_000393.5(COL5A2):c.281C>T (p.Pro94Leu)
|
|
|
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu)
|
rs868695034
|
|
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala)
|
rs1027615025
|
|
NM_000393.5(COL5A2):c.2851G>A (p.Gly951Arg)
|
|
|
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)
|
rs754751410
|
|
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser)
|
rs957007431
|
|
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
|
|
|
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)
|
|
|
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr)
|
|
|
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr)
|
rs1457897938
|
|
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val)
|
|
|
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg)
|
|
|
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser)
|
rs1576494351
|
|
NM_000393.5(COL5A2):c.2931+5G>T
|
|
|
NM_000393.5(COL5A2):c.2932G>C (p.Gly978Arg)
|
rs2153508067
|
|
NM_000393.5(COL5A2):c.2941G>A (p.Gly981Ser)
|
rs2153508066
|
|
NM_000393.5(COL5A2):c.2945C>A (p.Pro982His)
|
|
|
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)
|
rs1576493931
|
|
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)
|
rs1685766586
|
|
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=)
|
rs933589600
|
|
NM_000393.5(COL5A2):c.2980A>T (p.Ile994Phe)
|
|
|
NM_000393.5(COL5A2):c.2983G>C (p.Val995Leu)
|
|
|
NM_000393.5(COL5A2):c.3001C>G (p.Arg1001Gly)
|
|
|
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys)
|
rs863223507
|
|
NM_000393.5(COL5A2):c.3035C>A (p.Pro1012Gln)
|
|
|
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=)
|
rs751945982
|
|
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val)
|
|
|
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile)
|
|
|
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val)
|
rs1685736900
|
|
NM_000393.5(COL5A2):c.3084A>C (p.Lys1028Asn)
|
rs774936724
|
|
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
|
rs1685735868
|
|
NM_000393.5(COL5A2):c.3122G>A (p.Gly1041Asp)
|
|
|
NM_000393.5(COL5A2):c.3127G>A (p.Val1043Ile)
|
rs1186405696
|
|
NM_000393.5(COL5A2):c.3136C>A (p.Pro1046Thr)
|
|
|
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln)
|
rs1685734191
|
|
NM_000393.5(COL5A2):c.3147+5_3147+16del
|
|
|
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser)
|
rs2153507740
|
|
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)
|
|
|
NM_000393.5(COL5A2):c.3179G>C (p.Arg1060Pro)
|
|
|
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
|
rs778501601
|
|
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile)
|
rs1576577162
|
|
NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn)
|
|
|
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp)
|
|
|
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val)
|
|
|
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp)
|
rs1559076883
|
|
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr)
|
|
|
NM_000393.5(COL5A2):c.3278C>A (p.Ala1093Asp)
|
|
|
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg)
|
rs1576490680
|
|
NM_000393.5(COL5A2):c.3295C>G (p.Gln1099Glu)
|
|
|
NM_000393.5(COL5A2):c.3309+6G>A
|
rs775681859
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val)
|
rs1167178682
|
|
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser)
|
rs1685640502
|
|
NM_000393.5(COL5A2):c.3334C>A (p.Pro1112Thr)
|
|
|
NM_000393.5(COL5A2):c.3334C>T (p.Pro1112Ser)
|
|
|
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val)
|
rs981465775
|
|
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
|
|
|
NM_000393.5(COL5A2):c.3347G>A (p.Gly1116Glu)
|
|
|
NM_000393.5(COL5A2):c.336+3A>T
|
rs762140704
|
|
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg)
|
|
|
NM_000393.5(COL5A2):c.3373G>C (p.Gly1125Arg)
|
|
|
NM_000393.5(COL5A2):c.3380G>A (p.Arg1127His)
|
|
|
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
|
|
|
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)
|
rs747946828
|
|
NM_000393.5(COL5A2):c.3394G>A (p.Asp1132Asn)
|
|
|
NM_000393.5(COL5A2):c.3395A>G (p.Asp1132Gly)
|
|
|
NM_000393.5(COL5A2):c.3399T>C (p.His1133=)
|
|
|
NM_000393.5(COL5A2):c.3428G>A (p.Gly1143Asp)
|
rs1685595072
|
|
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn)
|
rs2105690115
|
|
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala)
|
|
|
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu)
|
rs863223508
|
|
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
|
|
|
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His)
|
rs2153506953
|
|
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln)
|
rs1060501905
|
|
NM_000393.5(COL5A2):c.3538C>T (p.Pro1180Ser)
|
|
|
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg)
|
|
|
NM_000393.5(COL5A2):c.3599G>T (p.Gly1200Val)
|
rs1685564185
|
|
NM_000393.5(COL5A2):c.3601G>A (p.Val1201Ile)
|
rs1685564109
|
|
NM_000393.5(COL5A2):c.3605G>A (p.Arg1202Gln)
|
|
|
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp)
|
rs1576488066
|
|
NM_000393.5(COL5A2):c.3613G>T (p.Val1205Leu)
|
rs377660244
|
|
NM_000393.5(COL5A2):c.3625G>C (p.Gly1209Arg)
|
|
|
NM_000393.5(COL5A2):c.3631G>A (p.Glu1211Lys)
|
|
|
NM_000393.5(COL5A2):c.3634-3T>C
|
|
|
NM_000393.5(COL5A2):c.3634G>C (p.Gly1212Arg)
|
|
|
NM_000393.5(COL5A2):c.3635G>A (p.Gly1212Asp)
|
|
|
NM_000393.5(COL5A2):c.3641C>A (p.Pro1214His)
|
|
|
NM_000393.5(COL5A2):c.3656C>A (p.Pro1219Gln)
|
|
|
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)
|
rs1685515304
|
|
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala)
|
|
|
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr)
|
|
|
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro)
|
rs1263127952
|
|
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val)
|
rs1685513453
|
|
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg)
|
|
|
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)
|
rs145100971
|
|
NM_000393.5(COL5A2):c.3736G>A (p.Asp1246Asn)
|
|
|
NM_000393.5(COL5A2):c.3743T>C (p.Leu1248Pro)
|
rs2153506518
|
|
NM_000393.5(COL5A2):c.3748G>A (p.Glu1250Lys)
|
|
|
NM_000393.5(COL5A2):c.3766G>A (p.Ala1256Thr)
|
|
|
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu)
|
|
|
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu)
|
rs1064795177
|
|
NM_000393.5(COL5A2):c.3800G>T (p.Gly1267Val)
|
|
|
NM_000393.5(COL5A2):c.3802G>T (p.Val1268Phe)
|
|
|
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
|
|
|
NM_000393.5(COL5A2):c.3847C>T (p.Arg1283Cys)
|
|
|
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu)
|
rs867460091
|
|
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val)
|
rs1251846979
|
|
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val)
|
|
|
NM_000393.5(COL5A2):c.3926-3T>C
|
rs1685452266
|
|
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp)
|
rs863223497
|
|
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu)
|
|
|
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys)
|
rs2153506166
|
|
NM_000393.5(COL5A2):c.3950A>G (p.Gln1317Arg)
|
rs2153506165
|
|
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu)
|
rs1685452114
|
|
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro)
|
|
|
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)
|
rs1685449943
|
|
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu)
|
rs771590535
|
|
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr)
|
rs1157866285
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
NM_000393.5(COL5A2):c.4081T>C (p.Trp1361Arg)
|
rs761506002
|
|
NM_000393.5(COL5A2):c.4093G>A (p.Asp1365Asn)
|
|
|
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)
|
rs372226064
|
|
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg)
|
rs767685753
|
|
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu)
|
rs759631023
|
|
NM_000393.5(COL5A2):c.4113+3A>G
|
rs1685448298
|
|
NM_000393.5(COL5A2):c.4114-20A>G
|
rs1057523545
|
|
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr)
|
rs1685418656
|
|
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg)
|
|
|
NM_000393.5(COL5A2):c.4154C>T (p.Thr1385Ile)
|
|
|
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile)
|
rs1424971937
|
|
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn)
|
rs771415085
|
|
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile)
|
rs771415085
|
|
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
|
|
|
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe)
|
|
|
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)
|
|
|
NM_000393.5(COL5A2):c.4185A>G (p.Lys1395=)
|
|
|
NM_000393.5(COL5A2):c.4187A>G (p.Glu1396Gly)
|
|
|
NM_000393.5(COL5A2):c.4189G>A (p.Ala1397Thr)
|
|
|
NM_000393.5(COL5A2):c.4207T>A (p.Tyr1403Asn)
|
|
|
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly)
|
rs1685415940
|
|
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile)
|
|
|
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
|
|
|
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)
|
|
|
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly)
|
rs141777954
|
|
NM_000393.5(COL5A2):c.429A>G (p.Arg143=)
|
rs1488001302
|
|
NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe)
|
|
|
NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile)
|
|
|
NM_000393.5(COL5A2):c.437G>C (p.Arg146Pro)
|
rs144430633
|
|
NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly)
|
rs1685396293
|
|
NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg)
|
|
|
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly)
|
rs2153505892
|
|
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)
|
rs775322653
|
|
NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)
|
|
|
NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)
|
|
|
NM_000393.5(COL5A2):c.456+3A>C
|
|
|
NM_000393.5(COL5A2):c.457-12C>T
|
rs1387666560
|
|
NM_000393.5(COL5A2):c.470C>T (p.Pro157Leu)
|
|
|
NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala)
|
rs1686807213
|
|
NM_000393.5(COL5A2):c.479T>C (p.Ile160Thr)
|
rs1177082898
|
|
NM_000393.5(COL5A2):c.500C>A (p.Pro167His)
|
|
|
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr)
|
rs886055358
|
|
NM_000393.5(COL5A2):c.534T>A (p.His178Gln)
|
|
|
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe)
|
rs2105831569
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)
|
rs775933907
|
|
NM_000393.5(COL5A2):c.567+3G>A
|
|
|
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.622G>A (p.Val208Ile)
|
rs2105658300
|
|
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu)
|
rs1686718032
|
|
NM_000393.5(COL5A2):c.645+5G>A
|
|
|
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
|
|
|
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
|
|
|
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu)
|
rs201941612
|
|
NM_000393.5(COL5A2):c.686A>G (p.Gln229Arg)
|
rs1686671999
|
|
NM_000393.5(COL5A2):c.690A>G (p.Gln230=)
|
|
|
NM_000393.5(COL5A2):c.724C>T (p.Pro242Ser)
|
rs2105650411
|
|
NM_000393.5(COL5A2):c.727G>C (p.Gly243Arg)
|
|
|
NM_000393.5(COL5A2):c.731A>C (p.Asp244Ala)
|
|
|
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln)
|
rs1688743702
|
|
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr)
|
rs1686643340
|
|
NM_000393.5(COL5A2):c.744+7G>A
|
rs774993105
|
|
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)
|
rs556805686
|
|
NM_000393.5(COL5A2):c.798+6C>T
|
|
|
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg)
|
|
|
NM_000393.5(COL5A2):c.853-3C>G
|
|
|
NM_000393.5(COL5A2):c.860G>A (p.Arg287His)
|
|
|
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser)
|
|
|
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)
|
rs1211991688
|
|
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser)
|
rs1686522348
|
|
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.905G>T (p.Arg302Leu)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.917G>C (p.Gly306Ala)
|
|
|
NM_000393.5(COL5A2):c.926G>A (p.Gly309Asp)
|
|
|
NM_000393.5(COL5A2):c.928C>A (p.Pro310Thr)
|
|
|
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro)
|
rs1060501908
|
|
NM_000393.5(COL5A2):c.967G>C (p.Ala323Pro)
|
rs2105632778
|
|
NM_000393.5(COL5A2):c.98-22_98-18del
|
|
|
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
|
|
|
Single allele
|
|
|