NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_000093.5(COL5A1):c.-364G>C
|
rs780212970
|
0.00064
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
NM_000093.5(COL5A1):c.2331+16G>A
|
rs199654385
|
0.00028
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
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.2700+191C>T
|
rs183885286
|
0.00011
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00009
|
NM_000093.5(COL5A1):c.4068+7G>A
|
rs587780905
|
0.00009
|
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=)
|
rs146757272
|
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.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
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.3258G>A (p.Ala1086=)
|
rs372844807
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000093.5(COL5A1):c.2034C>T (p.Pro678=)
|
rs373100663
|
0.00005
|
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)
|
rs144985214
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
0.00004
|
NM_000093.5(COL5A1):c.1569C>T (p.Pro523=)
|
rs138803413
|
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.2286G>A (p.Pro762=)
|
rs766817444
|
0.00004
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)
|
rs183114696
|
0.00004
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.2484+6C>T
|
rs576976549
|
0.00003
|
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)
|
rs757434449
|
0.00003
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu)
|
rs201375465
|
0.00002
|
NM_000093.5(COL5A1):c.1495-3C>T
|
rs943808454
|
0.00002
|
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg)
|
rs1131691360
|
0.00002
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu)
|
rs1198718473
|
0.00002
|
NM_000093.5(COL5A1):c.3852+3G>A
|
rs1220391738
|
0.00002
|
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser)
|
rs1060502260
|
0.00002
|
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)
|
rs761259908
|
0.00002
|
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn)
|
rs781248560
|
0.00002
|
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn)
|
rs1420950002
|
0.00001
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro)
|
rs757379111
|
0.00001
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1332+4dup
|
rs886063674
|
0.00001
|
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)
|
rs1057518771
|
0.00001
|
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val)
|
rs763650548
|
0.00001
|
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser)
|
rs1238395732
|
0.00001
|
NM_000093.5(COL5A1):c.1678C>G (p.Pro560Ala)
|
rs1321926947
|
0.00001
|
NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly)
|
rs1460929040
|
0.00001
|
NM_000093.5(COL5A1):c.1717G>A (p.Val573Met)
|
rs1304946894
|
0.00001
|
NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp)
|
rs772579783
|
0.00001
|
NM_000093.5(COL5A1):c.1828-3C>G
|
rs369608154
|
0.00001
|
NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser)
|
rs183627101
|
0.00001
|
NM_000093.5(COL5A1):c.1989+4G>A
|
rs1307138217
|
0.00001
|
NM_000093.5(COL5A1):c.214G>A (p.Asp72Asn)
|
rs376115028
|
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.2331+4G>A
|
rs1588532335
|
0.00001
|
NM_000093.5(COL5A1):c.2430+230C>G
|
rs1837207655
|
0.00001
|
NM_000093.5(COL5A1):c.2430+4A>C
|
rs772211603
|
0.00001
|
NM_000093.5(COL5A1):c.2464A>G (p.Met822Val)
|
rs1060502262
|
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.256C>T (p.Pro86Ser)
|
rs1277995091
|
0.00001
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val)
|
rs759338898
|
0.00001
|
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)
|
rs772211736
|
0.00001
|
NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met)
|
rs771090557
|
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.2951C>G (p.Thr984Ser)
|
rs1205167823
|
0.00001
|
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser)
|
rs777368013
|
0.00001
|
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val)
|
rs761639579
|
0.00001
|
NM_000093.5(COL5A1):c.3082C>T (p.Leu1028Phe)
|
rs762810181
|
0.00001
|
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu)
|
rs766852875
|
0.00001
|
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys)
|
rs367905915
|
0.00001
|
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser)
|
rs1838252619
|
0.00001
|
NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala)
|
rs1315080321
|
0.00001
|
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His)
|
rs1482501113
|
0.00001
|
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala)
|
rs926426117
|
0.00001
|
NM_000093.5(COL5A1):c.3346G>T (p.Ala1116Ser)
|
rs1838294621
|
0.00001
|
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro)
|
rs863223449
|
0.00001
|
NM_000093.5(COL5A1):c.3528+12C>T
|
rs927953209
|
0.00001
|
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile)
|
rs1057524867
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys)
|
rs1588448757
|
0.00001
|
NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala)
|
rs1564475073
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser)
|
rs761962890
|
0.00001
|
NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys)
|
rs1370262542
|
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.4276G>A (p.Gly1426Ser)
|
rs374868484
|
0.00001
|
NM_000093.5(COL5A1):c.427C>A (p.His143Asn)
|
rs863223465
|
0.00001
|
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser)
|
rs757989702
|
0.00001
|
NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys)
|
rs1838876394
|
0.00001
|
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser)
|
rs750864661
|
0.00001
|
NM_000093.5(COL5A1):c.460C>T (p.Leu154Phe)
|
rs1554781521
|
0.00001
|
NM_000093.5(COL5A1):c.492-3C>T
|
rs1027866868
|
0.00001
|
NM_000093.5(COL5A1):c.551A>G (p.Lys184Arg)
|
rs1833662587
|
0.00001
|
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)
|
rs1490728700
|
0.00001
|
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly)
|
rs1433120962
|
0.00001
|
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys)
|
rs199857770
|
0.00001
|
NC_000009.11:g.(?_137533651)_(137534142_?)dup
|
|
|
NC_000009.11:g.(?_137534028)_(137534148_?)dup
|
|
|
NC_000009.11:g.(?_137534034)_(137630674_?)dup
|
|
|
NC_000009.11:g.(?_137619102)_(137619253_?)del
|
|
|
NC_000009.11:g.(?_137623322)_(137623993_?)del
|
|
|
NC_000009.11:g.(?_137703323)_(137734200_?)del
|
|
|
NC_000009.12:g.(?_134690892)_(134691099_?)del
|
|
|
NC_000009.12:g.(?_134727246)_(134728827_?)del
|
|
|
NC_000009.12:g.(?_134789143)_(134789218_?)dup
|
|
|
NC_000009.12:g.(?_134842147)_(134842313_?)del
|
|
|
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu)
|
rs1834832160
|
|
NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys)
|
|
|
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)
|
rs1339426358
|
|
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)
|
rs1588479393
|
|
NM_000093.5(COL5A1):c.104G>A (p.Arg35His)
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn)
|
rs1834835178
|
|
NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del)
|
|
|
NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln)
|
|
|
NM_000093.5(COL5A1):c.1077G>C (p.Glu359Asp)
|
|
|
NM_000093.5(COL5A1):c.1078G>A (p.Gly360Arg)
|
|
|
NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp)
|
|
|
NM_000093.5(COL5A1):c.1097A>G (p.Gln366Arg)
|
rs761227399
|
|
NM_000093.5(COL5A1):c.110-3C>G
|
rs1554780148
|
|
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu)
|
rs1834838212
|
|
NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val)
|
|
|
NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser)
|
rs1834838821
|
|
NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly)
|
|
|
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His)
|
rs868555520
|
|
NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr)
|
|
|
NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp)
|
|
|
NM_000093.5(COL5A1):c.1165-2_1169dup
|
rs2132641901
|
|
NM_000093.5(COL5A1):c.1165-4G>T
|
rs1834877909
|
|
NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly)
|
|
|
NM_000093.5(COL5A1):c.1197C>G (p.Asp399Glu)
|
|
|
NM_000093.5(COL5A1):c.1201G>C (p.Glu401Gln)
|
|
|
NM_000093.5(COL5A1):c.1204G>T (p.Gly402Trp)
|
|
|
NM_000093.5(COL5A1):c.1228C>G (p.Arg410Gly)
|
|
|
NM_000093.5(COL5A1):c.122A>G (p.Asp41Gly)
|
|
|
NM_000093.5(COL5A1):c.1239C>G (p.Asp413Glu)
|
rs775974461
|
|
NM_000093.5(COL5A1):c.1239_1241del (p.Asp413del)
|
rs2132642108
|
|
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.1266C>G (p.Asp422Glu)
|
|
|
NM_000093.5(COL5A1):c.126_128del (p.Leu43del)
|
rs1564390373
|
|
NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn)
|
|
|
NM_000093.5(COL5A1):c.1287G>T (p.Glu429Asp)
|
rs2132642256
|
|
NM_000093.5(COL5A1):c.128T>G (p.Leu43Arg)
|
rs2132550843
|
|
NM_000093.5(COL5A1):c.1298G>C (p.Gly433Ala)
|
rs2132642300
|
|
NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val)
|
rs1060502244
|
|
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
|
|
|
NM_000093.5(COL5A1):c.1332+3G>A
|
|
|
NM_000093.5(COL5A1):c.1332+5G>A
|
rs1564417882
|
|
NM_000093.5(COL5A1):c.1333-19T>A
|
rs2132643213
|
|
NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC
|
rs1588481731
|
|
NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val)
|
rs1060502243
|
|
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
|
|
|
NM_000093.5(COL5A1):c.1384G>C (p.Glu462Gln)
|
rs761770226
|
|
NM_000093.5(COL5A1):c.1387C>G (p.Pro463Ala)
|
|
|
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser)
|
rs368168386
|
|
NM_000093.5(COL5A1):c.1406_1407delinsAA (p.Gly469Glu)
|
|
|
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr)
|
rs774936702
|
|
NM_000093.5(COL5A1):c.1429G>T (p.Ala477Ser)
|
rs774936702
|
|
NM_000093.5(COL5A1):c.1431+5G>C
|
rs1835185397
|
|
NM_000093.5(COL5A1):c.1432G>A (p.Gly478Ser)
|
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
NM_000093.5(COL5A1):c.1435C>T (p.Leu479Phe)
|
|
|
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)
|
rs1835194865
|
|
NM_000093.5(COL5A1):c.1442G>T (p.Gly481Val)
|
rs1588488587
|
|
NM_000093.5(COL5A1):c.1454C>T (p.Thr485Ile)
|
|
|
NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg)
|
rs2132655977
|
|
NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala)
|
|
|
NM_000093.5(COL5A1):c.1495-7T>A
|
rs1835738568
|
|
NM_000093.5(COL5A1):c.1522G>A (p.Gly508Arg)
|
|
|
NM_000093.5(COL5A1):c.1537C>T (p.Pro513Ser)
|
|
|
NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu)
|
rs1449896543
|
|
NM_000093.5(COL5A1):c.1553C>T (p.Thr518Ile)
|
|
|
NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr)
|
rs202069285
|
|
NM_000093.5(COL5A1):c.1569+15_1569+16inv
|
|
|
NM_000093.5(COL5A1):c.1569+6T>C
|
rs1588502477
|
|
NM_000093.5(COL5A1):c.162A>T (p.Gly54=)
|
rs764431997
|
|
NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe)
|
|
|
NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys)
|
|
|
NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val)
|
rs767143136
|
|
NM_000093.5(COL5A1):c.1662+6T>C
|
|
|
NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser)
|
|
|
NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)
|
|
|
NM_000093.5(COL5A1):c.1703G>T (p.Gly568Val)
|
|
|
NM_000093.5(COL5A1):c.1720-3T>C
|
rs960627780
|
|
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala)
|
rs751649145
|
|
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.1781G>A (p.Arg594Gln)
|
|
|
NM_000093.5(COL5A1):c.1810G>A (p.Gly604Arg)
|
|
|
NM_000093.5(COL5A1):c.1816C>T (p.Pro606Ser)
|
rs1588506358
|
|
NM_000093.5(COL5A1):c.1819G>A (p.Gly607Arg)
|
|
|
NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln)
|
|
|
NM_000093.5(COL5A1):c.1850C>T (p.Ala617Val)
|
rs1588508705
|
|
NM_000093.5(COL5A1):c.1881+3A>G
|
|
|
NM_000093.5(COL5A1):c.1881+4G>A
|
|
|
NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly)
|
rs2132698898
|
|
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)
|
rs781663334
|
|
NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn)
|
rs918992441
|
|
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr)
|
rs1836060732
|
|
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu)
|
rs150890005
|
|
NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro)
|
rs146074704
|
|
NM_000093.5(COL5A1):c.1989+5G>C
|
|
|
NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln)
|
rs764603796
|
|
NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val)
|
rs1564443811
|
|
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys)
|
rs1564445192
|
|
NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu)
|
|
|
NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala)
|
|
|
NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys)
|
|
|
NM_000093.5(COL5A1):c.2088+4dup
|
rs1836638328
|
|
NM_000093.5(COL5A1):c.2088+5G>T
|
|
|
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His)
|
rs1554796087
|
|
NM_000093.5(COL5A1):c.2138C>T (p.Pro713Leu)
|
|
|
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser)
|
rs1564446104
|
|
NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu)
|
|
|
NM_000093.5(COL5A1):c.2187+4A>G
|
rs919497204
|
|
NM_000093.5(COL5A1):c.2187+6T>C
|
rs1836698236
|
|
NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr)
|
rs2132729311
|
|
NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)
|
|
|
NM_000093.5(COL5A1):c.2232+4G>C
|
rs1060502257
|
|
NM_000093.5(COL5A1):c.2262A>T (p.Gly754=)
|
rs1836755970
|
|
NM_000093.5(COL5A1):c.2266C>T (p.Pro756Ser)
|
|
|
NM_000093.5(COL5A1):c.2275G>C (p.Asp759His)
|
|
|
NM_000093.5(COL5A1):c.2284C>A (p.Pro762Thr)
|
|
|
NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln)
|
|
|
NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg)
|
|
|
NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg)
|
rs1554797269
|
|
NM_000093.5(COL5A1):c.2318A>T (p.Glu773Val)
|
rs759963647
|
|
NM_000093.5(COL5A1):c.2321A>C (p.Lys774Thr)
|
rs1564449370
|
|
NM_000093.5(COL5A1):c.2331+3G>C
|
|
|
NM_000093.5(COL5A1):c.2331+4G>C
|
rs1588532335
|
|
NM_000093.5(COL5A1):c.2331+4_2331+5dup
|
|
|
NM_000093.5(COL5A1):c.2331G>A (p.Gln777=)
|
rs1588532322
|
|
NM_000093.5(COL5A1):c.2332-5T>G
|
rs2132747878
|
|
NM_000093.5(COL5A1):c.2332-9T>A
|
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala)
|
|
|
NM_000093.5(COL5A1):c.2375G>A (p.Arg792Gln)
|
|
|
NM_000093.5(COL5A1):c.2383A>G (p.Lys795Glu)
|
rs2132748056
|
|
NM_000093.5(COL5A1):c.2385+3G>A
|
|
|
NM_000093.5(COL5A1):c.2386-8C>A
|
rs1588539610
|
|
NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp)
|
|
|
NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)
|
|
|
NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly)
|
|
|
NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT
|
|
|
NM_000093.5(COL5A1):c.2430+5G>T
|
|
|
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys)
|
rs1554798924
|
|
NM_000093.5(COL5A1):c.2437G>T (p.Asp813Tyr)
|
rs1837306111
|
|
NM_000093.5(COL5A1):c.246G>T (p.Gln82His)
|
rs777607116
|
|
NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly)
|
|
|
NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser)
|
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
NM_000093.5(COL5A1):c.2518G>C (p.Asp840His)
|
rs1564457054
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2558G>A (p.Gly853Asp)
|
|
|
NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del)
|
rs2132551178
|
|
NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg)
|
|
|
NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr)
|
|
|
NM_000093.5(COL5A1):c.2646+16del
|
rs1837447151
|
|
NM_000093.5(COL5A1):c.2647-3C>G
|
rs746511717
|
|
NM_000093.5(COL5A1):c.2647-3C>T
|
|
|
NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)
|
|
|
NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu)
|
|
|
NM_000093.5(COL5A1):c.266A>G (p.Gln89Arg)
|
rs1554780187
|
|
NM_000093.5(COL5A1):c.2670T>G (p.Phe890Leu)
|
|
|
NM_000093.5(COL5A1):c.2674_2675delinsCT (p.Gly892Leu)
|
rs2132784450
|
|
NM_000093.5(COL5A1):c.2693G>T (p.Gly898Val)
|
rs910417046
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
NM_000093.5(COL5A1):c.2705C>T (p.Thr902Ile)
|
rs1239938844
|
|
NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn)
|
rs533217850
|
|
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln)
|
rs1437668038
|
|
NM_000093.5(COL5A1):c.277+6T>C
|
|
|
NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr)
|
|
|
NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg)
|
|
|
NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly)
|
rs41306397
|
|
NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg)
|
|
|
NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT
|
|
|
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg)
|
rs1330022009
|
|
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp)
|
rs1030105888
|
|
NM_000093.5(COL5A1):c.2844+3A>G
|
rs2132806641
|
|
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=)
|
rs1421835224
|
|
NM_000093.5(COL5A1):c.2851A>C (p.Asn951His)
|
rs1588560410
|
|
NM_000093.5(COL5A1):c.2857C>T (p.Pro953Ser)
|
rs773946732
|
|
NM_000093.5(COL5A1):c.2870C>T (p.Thr957Ile)
|
|
|
NM_000093.5(COL5A1):c.2891G>T (p.Gly964Val)
|
|
|
NM_000093.5(COL5A1):c.2893C>T (p.Pro965Ser)
|
rs755051823
|
|
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu)
|
rs376435205
|
|
NM_000093.5(COL5A1):c.2902C>G (p.Pro968Ala)
|
rs1564466152
|
|
NM_000093.5(COL5A1):c.2929C>G (p.His977Asp)
|
|
|
NM_000093.5(COL5A1):c.2931C>A (p.His977Gln)
|
rs1564466171
|
|
NM_000093.5(COL5A1):c.2950A>T (p.Thr984Ser)
|
rs1837995693
|
|
NM_000093.5(COL5A1):c.2952T>C (p.Thr984=)
|
|
|
NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly)
|
rs2132569560
|
|
NM_000093.5(COL5A1):c.2984C>T (p.Pro995Leu)
|
|
|
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.2988C>A (p.Pro996=)
|
rs374409202
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
|
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
|
rs765082093
|
|
NM_000093.5(COL5A1):c.3006+5G>A
|
|
|
NM_000093.5(COL5A1):c.3007-14G>A
|
rs1838163235
|
|
NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG
|
|
|
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro)
|
rs1554781476
|
|
NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr)
|
|
|
NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr)
|
rs1838166559
|
|
NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser)
|
|
|
NM_000093.5(COL5A1):c.3086C>A (p.Pro1029Gln)
|
rs768531108
|
|
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del)
|
rs863223476
|
|
NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=)
|
|
|
NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val)
|
rs2132827065
|
|
NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp)
|
rs1554803568
|
|
NM_000093.5(COL5A1):c.3185G>C (p.Arg1062Pro)
|
rs771807198
|
|
NM_000093.5(COL5A1):c.3185G>T (p.Arg1062Leu)
|
rs771807198
|
|
NM_000093.5(COL5A1):c.3194C>T (p.Pro1065Leu)
|
rs2132827329
|
|
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser)
|
rs1838247641
|
|
NM_000093.5(COL5A1):c.3205-20A>G
|
rs1198283460
|
|
NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val)
|
rs2132827686
|
|
NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe)
|
|
|
NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu)
|
rs1554803631
|
|
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu)
|
rs863223447
|
|
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
|
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys)
|
rs1383949759
|
|
NM_000093.5(COL5A1):c.3287G>A (p.Gly1096Glu)
|
|
|
NM_000093.5(COL5A1):c.3290C>T (p.Ala1097Val)
|
|
|
NM_000093.5(COL5A1):c.3292G>T (p.Ala1098Ser)
|
|
|
NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile)
|
|
|
NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser)
|
rs1838292124
|
|
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
|
|
|
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys)
|
rs1838292501
|
|
NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser)
|
rs1204892518
|
|
NM_000093.5(COL5A1):c.3337C>T (p.Pro1113Ser)
|
rs1342258419
|
|
NM_000093.5(COL5A1):c.3344C>A (p.Pro1115Gln)
|
rs139039658
|
|
NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val)
|
|
|
NM_000093.5(COL5A1):c.3373A>G (p.Lys1125Glu)
|
|
|
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys)
|
rs1838417062
|
|
NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg)
|
|
|
NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser)
|
|
|
NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val)
|
|
|
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser)
|
rs775559638
|
|
NM_000093.5(COL5A1):c.3412G>T (p.Gly1138Trp)
|
rs2132838695
|
|
NM_000093.5(COL5A1):c.3421G>C (p.Gly1141Arg)
|
rs1269224473
|
|
NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile)
|
rs1564396163
|
|
NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu)
|
|
|
NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg)
|
|
|
NM_000093.5(COL5A1):c.3474+5G>A
|
|
|
NM_000093.5(COL5A1):c.3474+6G>A
|
|
|
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu)
|
rs1838466921
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
NM_000093.5(COL5A1):c.3509A>G (p.Lys1170Arg)
|
rs2132841141
|
|
NM_000093.5(COL5A1):c.3511G>A (p.Gly1171Arg)
|
rs2132841157
|
|
NM_000093.5(COL5A1):c.3528+4_3528+7dup
|
|
|
NM_000093.5(COL5A1):c.3528+5G>A
|
|
|
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys)
|
rs1554781494
|
|
NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)
|
|
|
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val)
|
rs1588577285
|
|
NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His)
|
|
|
NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu)
|
rs2132844501
|
|
NM_000093.5(COL5A1):c.3583-33_3583-15del
|
|
|
NM_000093.5(COL5A1):c.3583-7C>G
|
rs1330304599
|
|
NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp)
|
rs1060502247
|
|
NM_000093.5(COL5A1):c.35C>A (p.Ala12Glu)
|
rs995895784
|
|
NM_000093.5(COL5A1):c.3607C>T (p.Arg1203Trp)
|
|
|
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln)
|
rs1838524385
|
|
NM_000093.5(COL5A1):c.3617A>G (p.Gln1206Arg)
|
rs1838524740
|
|
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu)
|
rs748000980
|
|
NM_000093.5(COL5A1):c.3637G>A (p.Gly1213Ser)
|
|
|
NM_000093.5(COL5A1):c.3643G>A (p.Glu1215Lys)
|
rs2132845104
|
|
NM_000093.5(COL5A1):c.364G>C (p.Glu122Gln)
|
rs1588448757
|
|
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly)
|
rs886063673
|
|
NM_000093.5(COL5A1):c.3662C>T (p.Pro1221Leu)
|
|
|
NM_000093.5(COL5A1):c.3667C>T (p.Pro1223Ser)
|
rs1411675246
|
|
NM_000093.5(COL5A1):c.3690+2dup
|
rs2132845264
|
|
NM_000093.5(COL5A1):c.3691-3C>A
|
|
|
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu)
|
rs886039091
|
|
NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser)
|
|
|
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=)
|
rs763583510
|
|
NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val)
|
rs767843442
|
|
NM_000093.5(COL5A1):c.3744+6T>A
|
|
|
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala)
|
rs533597740
|
|
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser)
|
rs1833612402
|
|
NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser)
|
|
|
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)
|
rs1554805125
|
|
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg)
|
rs772445337
|
|
NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser)
|
|
|
NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg)
|
rs771146636
|
|
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu)
|
rs369684394
|
|
NM_000093.5(COL5A1):c.3827G>T (p.Gly1276Val)
|
rs2132848301
|
|
NM_000093.5(COL5A1):c.384del (p.Ile128fs)
|
rs1833612720
|
|
NM_000093.5(COL5A1):c.3852+4A>T
|
|
|
NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg)
|
rs2132569874
|
|
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
|
|
|
NM_000093.5(COL5A1):c.386G>A (p.Gly129Glu)
|
rs1833612785
|
|
NM_000093.5(COL5A1):c.3873T>C (p.Gly1291=)
|
|
|
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)
|
rs1319735007
|
|
NM_000093.5(COL5A1):c.3878C>T (p.Pro1293Leu)
|
|
|
NM_000093.5(COL5A1):c.388C>G (p.Leu130Val)
|
|
|
NM_000093.5(COL5A1):c.3899G>C (p.Gly1300Ala)
|
|
|
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.3906+8A>G
|
|
|
NM_000093.5(COL5A1):c.3911C>T (p.Pro1304Leu)
|
rs1554805618
|
|
NM_000093.5(COL5A1):c.3916G>A (p.Gly1306Arg)
|
rs1588581652
|
|
NM_000093.5(COL5A1):c.3928G>A (p.Glu1310Lys)
|
|
|
NM_000093.5(COL5A1):c.3941C>T (p.Ser1314Leu)
|
rs2132853691
|
|
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser)
|
rs1838678972
|
|
NM_000093.5(COL5A1):c.3953G>T (p.Gly1318Val)
|
|
|
NM_000093.5(COL5A1):c.3958G>T (p.Ala1320Ser)
|
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu)
|
|
|
NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser)
|
rs1462221629
|
|
NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg)
|
rs1060502254
|
|
NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser)
|
rs759198874
|
|
NM_000093.5(COL5A1):c.4014+4del
|
rs2132854046
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4039C>G (p.Pro1347Ala)
|
|
|
NM_000093.5(COL5A1):c.4039C>T (p.Pro1347Ser)
|
rs769470285
|
|
NM_000093.5(COL5A1):c.4043G>C (p.Gly1348Ala)
|
rs1060502252
|
|
NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr)
|
|
|
NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu)
|
rs1255890421
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
|
|
|
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu)
|
rs2132855475
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro)
|
|
|
NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser)
|
|
|
NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu)
|
|
|
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser)
|
rs2132856128
|
|
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe)
|
rs145757313
|
|
NM_000093.5(COL5A1):c.40C>T (p.Arg14Cys)
|
|
|
NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=)
|
rs1588583076
|
|
NM_000093.5(COL5A1):c.4122+1_4122+42dup
|
rs2132856269
|
|
NM_000093.5(COL5A1):c.4122+4A>C
|
|
|
NM_000093.5(COL5A1):c.4122+4A>G
|
|
|
NM_000093.5(COL5A1):c.4132G>T (p.Gly1378Cys)
|
|
|
NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn)
|
rs863223439
|
|
NM_000093.5(COL5A1):c.4144G>A (p.Glu1382Lys)
|
rs1554806121
|
|
NM_000093.5(COL5A1):c.4150G>C (p.Gly1384Arg)
|
rs2132858757
|
|
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup)
|
rs2132861348
|
|
NM_000093.5(COL5A1):c.4189C>T (p.Pro1397Ser)
|
rs1838819571
|
|
NM_000093.5(COL5A1):c.4192G>T (p.Ala1398Ser)
|
rs759464073
|
|
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=)
|
rs1397888531
|
|
NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His)
|
rs1554806295
|
|
NM_000093.5(COL5A1):c.4230+5C>A
|
|
|
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
|
|
|
NM_000093.5(COL5A1):c.4231-3C>T
|
|
|
NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp)
|
rs1564480902
|
|
NM_000093.5(COL5A1):c.423G>A (p.Glu141=)
|
rs2132569993
|
|
NM_000093.5(COL5A1):c.4245G>C (p.Leu1415Phe)
|
|
|
NM_000093.5(COL5A1):c.4255C>T (p.Pro1419Ser)
|
|
|
NM_000093.5(COL5A1):c.4256C>T (p.Pro1419Leu)
|
rs2132864006
|
|
NM_000093.5(COL5A1):c.4259G>A (p.Gly1420Glu)
|
|
|
NM_000093.5(COL5A1):c.4262A>T (p.Lys1421Met)
|
rs1838864887
|
|
NM_000093.5(COL5A1):c.4275C>G (p.Ile1425Met)
|
rs767372665
|
|
NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu)
|
|
|
NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu)
|
|
|
NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu)
|
rs1554806543
|
|
NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe)
|
|
|
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
|
rs864622040
|
|
NM_000093.5(COL5A1):c.4338+5G>A
|
rs1352729728
|
|
NM_000093.5(COL5A1):c.4339-3C>G
|
rs545993723
|
|
NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg)
|
|
|
NM_000093.5(COL5A1):c.4351C>A (p.Leu1451Ile)
|
rs369740453
|
|
NM_000093.5(COL5A1):c.4351C>T (p.Leu1451Phe)
|
|
|
NM_000093.5(COL5A1):c.4358G>T (p.Gly1453Val)
|
rs1588587440
|
|
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val)
|
rs1564481157
|
|
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=)
|
rs1213186421
|
|
NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser)
|
|
|
NM_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala)
|
|
|
NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala)
|
|
|
NM_000093.5(COL5A1):c.4392+6_4392+24dup
|
|
|
NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)
|
|
|
NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala)
|
|
|
NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His)
|
rs1554806674
|
|
NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro)
|
|
|
NM_000093.5(COL5A1):c.484G>C (p.Asp162His)
|
rs1564396342
|
|
NM_000093.5(COL5A1):c.491+3A>C
|
rs1554781526
|
|
NM_000093.5(COL5A1):c.499A>G (p.Arg167Gly)
|
|
|
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del)
|
|
|
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[3] (p.Pro21_Leu24dup)
|
rs1444295577
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
|
|
|
NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg)
|
|
|
NM_000093.5(COL5A1):c.544G>T (p.Asp182Tyr)
|
|
|
NM_000093.5(COL5A1):c.547_576dup (p.Asp192_Arg193insCysLysLysLysThrThrLysPheLeuAsp)
|
|
|
NM_000093.5(COL5A1):c.548G>A (p.Cys183Tyr)
|
rs1060502251
|
|
NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser)
|
|
|
NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu)
|
rs1365787866
|
|
NM_000093.5(COL5A1):c.592A>G (p.Met198Val)
|
rs1833664488
|
|
NM_000093.5(COL5A1):c.608G>A (p.Gly203Asp)
|
|
|
NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu)
|
|
|
NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser)
|
|
|
NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys)
|
rs763107415
|
|
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
|
|
|
NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg)
|
rs1554787531
|
|
NM_000093.5(COL5A1):c.67CTG[4] (p.Leu27_Leu28del)
|
|
|
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.707A>G (p.Tyr236Cys)
|
rs2132632715
|
|
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr)
|
rs1588475947
|
|
NM_000093.5(COL5A1):c.716A>G (p.His239Arg)
|
|
|
NM_000093.5(COL5A1):c.71T>A (p.Leu24Gln)
|
|
|
NM_000093.5(COL5A1):c.722G>A (p.Ser241Asn)
|
|
|
NM_000093.5(COL5A1):c.729C>G (p.Asp243Glu)
|
rs1834700553
|
|
NM_000093.5(COL5A1):c.730T>C (p.Cys244Arg)
|
|
|
NM_000093.5(COL5A1):c.731G>C (p.Cys244Ser)
|
|
|
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)
|
|
|
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg)
|
rs1831316736
|
|
NM_000093.5(COL5A1):c.786+135A>G
|
rs2132633168
|
|
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe)
|
rs1383699147
|
|
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser)
|
rs1834748686
|
|
NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys)
|
rs1834748686
|
|
NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp)
|
rs1834749472
|
|
NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys)
|
|
|
NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu)
|
rs1588477287
|
|
NM_000093.5(COL5A1):c.861G>T (p.Gly287=)
|
|
|
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala)
|
rs754640324
|
|
NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser)
|
rs754640324
|
|
NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr)
|
|
|
NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys)
|
rs770173348
|
|
NM_000093.5(COL5A1):c.924+8C>G
|
rs2132635461
|
|
NM_000093.5(COL5A1):c.925-11T>G
|
|
|
NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln)
|
rs1410664123
|
|
NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala)
|
|
|
NM_000093.5(COL5A1):c.959T>A (p.Met320Lys)
|
|
|
NM_000093.5(COL5A1):c.960G>A (p.Met320Ile)
|
|
|