NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)
|
rs150539264
|
0.00061
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser)
|
rs139116598
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met)
|
rs145093766
|
0.00019
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu)
|
rs140943202
|
0.00014
|
NM_000093.5(COL5A1):c.2089-8G>A
|
rs368595229
|
0.00014
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)
|
rs374020067
|
0.00011
|
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)
|
rs200590188
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)
|
rs146195310
|
0.00011
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu)
|
rs530442560
|
0.00010
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=)
|
rs367804791
|
0.00010
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00009
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)
|
rs368305377
|
0.00009
|
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg)
|
rs201801000
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)
|
rs201220311
|
0.00008
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)
|
rs372109796
|
0.00008
|
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala)
|
rs556167410
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00007
|
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg)
|
rs863223467
|
0.00007
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=)
|
rs372844807
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)
|
rs144985214
|
0.00005
|
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys)
|
rs1457110544
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln)
|
rs863223467
|
0.00005
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
0.00004
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)
|
rs372168541
|
0.00004
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
0.00004
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu)
|
rs138259992
|
0.00004
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)
|
rs370321707
|
0.00004
|
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)
|
rs183114696
|
0.00004
|
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu)
|
rs770737485
|
0.00004
|
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile)
|
rs762624092
|
0.00004
|
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)
|
rs762108965
|
0.00003
|
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)
|
rs535363331
|
0.00003
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.1827+11C>T
|
rs374795810
|
0.00003
|
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His)
|
rs371580094
|
0.00003
|
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu)
|
rs779540528
|
0.00003
|
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys)
|
rs762336160
|
0.00003
|
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu)
|
rs768531108
|
0.00003
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln)
|
rs141768094
|
0.00003
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
NM_000093.5(COL5A1):c.3815C>A (p.Pro1272Gln)
|
rs369684394
|
0.00003
|
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
|
rs749162303
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn)
|
rs148288567
|
0.00002
|
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala)
|
rs747758069
|
0.00002
|
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val)
|
rs752746395
|
0.00002
|
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)
|
rs763456705
|
0.00002
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys)
|
rs755546104
|
0.00002
|
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu)
|
rs201375465
|
0.00002
|
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)
|
rs375762619
|
0.00002
|
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg)
|
rs1131691360
|
0.00002
|
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile)
|
rs148793863
|
0.00002
|
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
|
rs766839110
|
0.00002
|
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu)
|
rs780406577
|
0.00002
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)
|
rs780601499
|
0.00002
|
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys)
|
rs149717587
|
0.00002
|
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser)
|
rs769814019
|
0.00002
|
NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln)
|
rs758650140
|
0.00002
|
NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr)
|
rs773125713
|
0.00002
|
NM_000093.5(COL5A1):c.526A>C (p.Asn176His)
|
rs369396868
|
0.00002
|
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser)
|
rs1060502260
|
0.00002
|
NM_000093.5(COL5A1):c.1021G>A (p.Val341Met)
|
rs756703956
|
0.00001
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00001
|
NM_000093.5(COL5A1):c.1089C>G (p.Asn363Lys)
|
rs773870913
|
0.00001
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)
|
rs768269251
|
0.00001
|
NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu)
|
rs1052185173
|
0.00001
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu)
|
rs753549769
|
0.00001
|
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)
|
rs1057518771
|
0.00001
|
NM_000093.5(COL5A1):c.1465A>G (p.Thr489Ala)
|
rs863223468
|
0.00001
|
NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu)
|
rs144909439
|
0.00001
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
NM_000093.5(COL5A1):c.164T>C (p.Ile55Thr)
|
rs899196123
|
0.00001
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu)
|
rs749007253
|
0.00001
|
NM_000093.5(COL5A1):c.1840A>C (p.Ser614Arg)
|
rs863223477
|
0.00001
|
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys)
|
rs764603796
|
0.00001
|
NM_000093.5(COL5A1):c.2032C>T (p.Pro678Ser)
|
rs756190610
|
0.00001
|
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu)
|
rs1389473144
|
0.00001
|
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser)
|
rs142612655
|
0.00001
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
NM_000093.5(COL5A1):c.2382C>T (p.Val794=)
|
rs758190171
|
0.00001
|
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val)
|
rs745370910
|
0.00001
|
NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu)
|
rs558752105
|
0.00001
|
NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln)
|
rs1837405294
|
0.00001
|
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His)
|
rs767925708
|
0.00001
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
NM_000093.5(COL5A1):c.2661C>A (p.Phe887Leu)
|
rs1424208076
|
0.00001
|
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val)
|
rs759338898
|
0.00001
|
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=)
|
rs749844592
|
0.00001
|
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)
|
rs1131691874
|
0.00001
|
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln)
|
rs574551567
|
0.00001
|
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser)
|
rs1189111524
|
0.00001
|
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val)
|
rs761639579
|
0.00001
|
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met)
|
rs776676564
|
0.00001
|
NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser)
|
rs193920927
|
0.00001
|
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu)
|
rs1001786208
|
0.00001
|
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser)
|
rs536758248
|
0.00001
|
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser)
|
rs763310793
|
0.00001
|
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His)
|
rs1482501113
|
0.00001
|
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu)
|
rs139039658
|
0.00001
|
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro)
|
rs863223449
|
0.00001
|
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile)
|
rs1057524867
|
0.00001
|
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu)
|
rs749093832
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000093.5(COL5A1):c.3622C>T (p.Leu1208Phe)
|
rs863223450
|
0.00001
|
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)
|
rs1356081271
|
0.00001
|
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile)
|
rs769091549
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
|
rs765217611
|
0.00001
|
NM_000093.5(COL5A1):c.4210C>A (p.Gln1404Lys)
|
rs1441922749
|
0.00001
|
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys)
|
rs376893441
|
0.00001
|
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser)
|
rs370151534
|
0.00001
|
NM_000093.5(COL5A1):c.427C>A (p.His143Asn)
|
rs863223465
|
0.00001
|
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly)
|
rs765920886
|
0.00001
|
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser)
|
rs757989702
|
0.00001
|
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)
|
rs201875250
|
0.00001
|
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser)
|
rs750864661
|
0.00001
|
NM_000093.5(COL5A1):c.458C>A (p.Pro153His)
|
rs771925785
|
0.00001
|
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
|
rs188120737
|
0.00001
|
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys)
|
rs765170704
|
0.00001
|
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln)
|
rs1382944823
|
0.00001
|
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)
|
rs775853003
|
0.00001
|
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly)
|
rs1433120962
|
0.00001
|
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn)
|
rs758431206
|
0.00001
|
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro)
|
rs863223440
|
0.00001
|
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met)
|
rs1312200383
|
0.00001
|
NM_000093.5(COL5A1):c.846C>T (p.Asp282=)
|
rs775736911
|
0.00001
|
NM_000093.5(COL5A1):c.962C>T (p.Pro321Leu)
|
rs1085307805
|
0.00001
|
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys)
|
rs199857770
|
0.00001
|
NM_000093.5(COL5A1):c.977G>A (p.Gly326Glu)
|
rs748152732
|
0.00001
|
GRCh37/hg19 9q34.3(chr9:137434514-137638766)x3
|
|
|
NM_000093.5(COL5A1):c.1021G>T (p.Val341Leu)
|
|
|
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)
|
rs1588479393
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
|
|
|
NM_000093.5(COL5A1):c.1081G>A (p.Glu361Lys)
|
rs1834836876
|
|
NM_000093.5(COL5A1):c.109+8179C>T
|
|
|
NM_000093.5(COL5A1):c.1094A>T (p.Asp365Val)
|
|
|
NM_000093.5(COL5A1):c.1222A>G (p.Thr408Ala)
|
rs1588480833
|
|
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)
|
rs758197769
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])
|
rs745934765
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3])
|
rs745934765
|
|
NM_000093.5(COL5A1):c.1264G>A (p.Asp422Asn)
|
|
|
NM_000093.5(COL5A1):c.12T>G (p.His4Gln)
|
rs368818087
|
|
NM_000093.5(COL5A1):c.1333-3C>G
|
rs1238061655
|
|
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
|
|
|
NM_000093.5(COL5A1):c.1370A>G (p.Glu457Gly)
|
rs2132643376
|
|
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser)
|
rs368168386
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr)
|
rs774936702
|
|
NM_000093.5(COL5A1):c.1431+6T>G
|
rs2132655326
|
|
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu)
|
rs565329216
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.1535T>C (p.Leu512Pro)
|
rs863223442
|
|
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
|
rs878853652
|
|
NM_000093.5(COL5A1):c.157G>C (p.Asp53His)
|
rs763026096
|
|
NM_000093.5(COL5A1):c.1628A>G (p.Glu543Gly)
|
rs2132683265
|
|
NM_000093.5(COL5A1):c.1671G>A (p.Leu557=)
|
|
|
NM_000093.5(COL5A1):c.1687C>G (p.Pro563Ala)
|
|
|
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu)
|
rs753260027
|
|
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
|
|
|
NM_000093.5(COL5A1):c.1726C>A (p.Pro576Thr)
|
|
|
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala)
|
rs754773665
|
|
NM_000093.5(COL5A1):c.1850C>A (p.Ala617Asp)
|
|
|
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)
|
rs781663334
|
|
NM_000093.5(COL5A1):c.1937G>A (p.Gly646Asp)
|
|
|
NM_000093.5(COL5A1):c.1949C>G (p.Pro650Arg)
|
rs150890005
|
|
NM_000093.5(COL5A1):c.2044G>A (p.Gly682Ser)
|
rs1588524307
|
|
NM_000093.5(COL5A1):c.2089-62C>T
|
|
|
NM_000093.5(COL5A1):c.212C>G (p.Pro71Arg)
|
|
|
NM_000093.5(COL5A1):c.2149C>T (p.Pro717Ser)
|
|
|
NM_000093.5(COL5A1):c.2182G>C (p.Ala728Pro)
|
|
|
NM_000093.5(COL5A1):c.2191C>G (p.Leu731Val)
|
|
|
NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg)
|
rs1588527590
|
|
NM_000093.5(COL5A1):c.2331+3G>A
|
|
|
NM_000093.5(COL5A1):c.2385G>A (p.Lys795=)
|
rs1554797638
|
|
NM_000093.5(COL5A1):c.2392G>A (p.Asp798Asn)
|
rs979271877
|
|
NM_000093.5(COL5A1):c.2401C>T (p.Arg801Cys)
|
|
|
NM_000093.5(COL5A1):c.242C>T (p.Ala81Val)
|
|
|
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys)
|
rs1554798924
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
NM_000093.5(COL5A1):c.2524C>A (p.Pro842Thr)
|
rs1588545921
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2578C>T (p.Pro860Ser)
|
|
|
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=)
|
rs143161140
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
NM_000093.5(COL5A1):c.2740C>T (p.Pro914Ser)
|
rs2132802525
|
|
NM_000093.5(COL5A1):c.2741C>T (p.Pro914Leu)
|
|
|
NM_000093.5(COL5A1):c.2771G>C (p.Arg924Pro)
|
rs768711320
|
|
NM_000093.5(COL5A1):c.2807C>G (p.Ser936Cys)
|
|
|
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg)
|
rs1330022009
|
|
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=)
|
rs1421835224
|
|
NM_000093.5(COL5A1):c.2866C>A (p.Pro956Thr)
|
rs2132807920
|
|
NM_000093.5(COL5A1):c.2882G>A (p.Gly961Glu)
|
rs2132807966
|
|
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu)
|
rs376435205
|
|
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)
|
rs759627305
|
|
NM_000093.5(COL5A1):c.2923C>G (p.Pro975Ala)
|
rs2132811634
|
|
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
|
NM_000093.5(COL5A1):c.3013A>G (p.Thr1005Ala)
|
rs863223446
|
|
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys)
|
rs1060502249
|
|
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr)
|
rs1554781477
|
|
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del)
|
rs863223476
|
|
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala)
|
rs751792216
|
|
NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu)
|
|
|
NM_000093.5(COL5A1):c.3197G>C (p.Gly1066Ala)
|
rs2132827340
|
|
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu)
|
rs863223447
|
|
NM_000093.5(COL5A1):c.3254C>T (p.Pro1085Leu)
|
rs1588570027
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg)
|
rs1377049332
|
|
NM_000093.5(COL5A1):c.3389C>T (p.Pro1130Leu)
|
rs1838417405
|
|
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser)
|
rs775559638
|
|
NM_000093.5(COL5A1):c.3415C>T (p.Pro1139Ser)
|
rs1838418529
|
|
NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg)
|
|
|
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu)
|
rs1838466921
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val)
|
rs1588577285
|
|
NM_000093.5(COL5A1):c.3575G>A (p.Gly1192Asp)
|
rs2132844472
|
|
NM_000093.5(COL5A1):c.3582+4A>C
|
rs1064796967
|
|
NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln)
|
rs867211079
|
|
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu)
|
rs748000980
|
|
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu)
|
rs886039091
|
|
NM_000093.5(COL5A1):c.3720T>C (p.Gly1240=)
|
rs1554805072
|
|
NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His)
|
|
|
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala)
|
rs533597740
|
|
NM_000093.5(COL5A1):c.3764G>A (p.Gly1255Asp)
|
rs1064796975
|
|
NM_000093.5(COL5A1):c.3775C>G (p.Pro1259Ala)
|
rs1352207961
|
|
NM_000093.5(COL5A1):c.380A>G (p.Gln127Arg)
|
|
|
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu)
|
rs369684394
|
|
NM_000093.5(COL5A1):c.383T>C (p.Ile128Thr)
|
rs863223464
|
|
NM_000093.5(COL5A1):c.3844G>A (p.Gly1282Arg)
|
rs1838574740
|
|
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
|
|
|
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg)
|
rs201920777
|
|
NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu)
|
rs201920777
|
|
NM_000093.5(COL5A1):c.3938A>G (p.Glu1313Gly)
|
rs2132853684
|
|
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser)
|
rs1838678972
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000093.5(COL5A1):c.4000C>A (p.Pro1334Thr)
|
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala)
|
rs762699995
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser)
|
rs2132856128
|
|
NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu)
|
rs1170899907
|
|
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe)
|
rs145757313
|
|
NM_000093.5(COL5A1):c.4151G>T (p.Gly1384Val)
|
|
|
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
NM_000093.5(COL5A1):c.4176+3A>T
|
rs1554806134
|
|
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup)
|
rs2132861348
|
|
NM_000093.5(COL5A1):c.4235A>T (p.Glu1412Val)
|
rs1838863376
|
|
NM_000093.5(COL5A1):c.4288G>A (p.Ala1430Thr)
|
rs863223455
|
|
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
|
rs864622040
|
|
NM_000093.5(COL5A1):c.4366G>A (p.Gly1456Ser)
|
rs1564481153
|
|
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val)
|
rs1564481157
|
|
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu)
|
rs201335857
|
|
NM_000093.5(COL5A1):c.4392+4A>C
|
rs863223456
|
|
NM_000093.5(COL5A1):c.4392+5G>A
|
rs886043312
|
|
NM_000093.5(COL5A1):c.458C>T (p.Pro153Leu)
|
rs771925785
|
|
NM_000093.5(COL5A1):c.487_488delinsTT (p.Gly163Phe)
|
rs2132570241
|
|
NM_000093.5(COL5A1):c.491+5G>C
|
rs2132570262
|
|
NM_000093.5(COL5A1):c.497A>G (p.His166Arg)
|
rs1057524357
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.523A>C (p.Lys175Gln)
|
|
|
NM_000093.5(COL5A1):c.550A>G (p.Lys184Glu)
|
rs2132572947
|
|
NM_000093.5(COL5A1):c.580A>G (p.Ser194Gly)
|
rs2132573049
|
|
NM_000093.5(COL5A1):c.592A>G (p.Met198Val)
|
rs1833664488
|
|
NM_000093.5(COL5A1):c.594G>A (p.Met198Ile)
|
|
|
NM_000093.5(COL5A1):c.616G>T (p.Val206Leu)
|
rs777065347
|
|
NM_000093.5(COL5A1):c.620T>G (p.Phe207Cys)
|
rs2132573278
|
|
NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu)
|
rs2132454969
|
|
NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala)
|
|
|
NM_000093.5(COL5A1):c.658G>A (p.Asp220Asn)
|
|
|
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
|
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.695C>A (p.Ala232Glu)
|
|
|
NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu)
|
rs1064796482
|
|
NM_000093.5(COL5A1):c.709T>C (p.Cys237Arg)
|
rs2132632719
|
|
NM_000093.5(COL5A1):c.71_74delinsCCCC (p.Leu24_Leu25delinsProPro)
|
|
|
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn)
|
rs886038237
|
|
NM_000093.5(COL5A1):c.779A>T (p.Asp260Val)
|
|
|
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe)
|
rs1383699147
|
|
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser)
|
rs748603743
|
|
NM_000093.5(COL5A1):c.859G>A (p.Gly287Arg)
|
|
|
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.94C>T (p.Pro32Ser)
|
rs886042620
|
|
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
|
|
|
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu)
|
rs576742644
|
|
Single allele
|
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