|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
|
NM_000093.5(COL5A1):c.1569+15C>T
|
rs62574081
|
0.07860
|
|
NM_000093.5(COL5A1):c.2745+15A>T
|
rs79481146
|
0.04269
|
|
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)
|
rs78511105
|
0.03349
|
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03150
|
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02617
|
|
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02489
|
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
|
NM_000093.5(COL5A1):c.2034+24C>T
|
rs41298367
|
0.02041
|
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00985
|
|
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)
|
rs61737941
|
0.00682
|
|
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)
|
rs61737708
|
0.00634
|
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
|
NM_000093.5(COL5A1):c.4231-12G>A
|
rs188473199
|
0.00514
|
|
NM_000093.5(COL5A1):c.-37G>A
|
rs374979485
|
0.00508
|
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00486
|
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00327
|
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00297
|
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00268
|
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
|
NM_000093.5(COL5A1):c.110-19T>C
|
rs148294644
|
0.00239
|
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00238
|
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00152
|
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00141
|
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00131
|
|
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=)
|
rs151173863
|
0.00129
|
|
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)
|
rs201166370
|
0.00123
|
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00102
|
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00102
|
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
|
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)
|
rs78215347
|
0.00101
|
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00095
|
|
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)
|
rs149616140
|
0.00087
|
|
NM_000093.5(COL5A1):c.3528+14C>T
|
rs371865645
|
0.00086
|
|
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)
|
rs143858735
|
0.00066
|
|
NM_000093.5(COL5A1):c.252C>T (p.Ser84=)
|
rs151293601
|
0.00064
|
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
|
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)
|
rs150539264
|
0.00061
|
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00056
|
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
0.00047
|
|
NM_000093.5(COL5A1):c.2089-9C>T
|
rs181246690
|
0.00041
|
|
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00041
|
|
NM_000093.5(COL5A1):c.924+14G>A
|
rs200595318
|
0.00041
|
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
|
NM_000093.5(COL5A1):c.3690+6T>A
|
rs375998368
|
0.00038
|
|
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)
|
rs138251296
|
0.00037
|
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00035
|
|
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=)
|
rs147292897
|
0.00034
|
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
|
NM_000093.5(COL5A1):c.3006+17C>T
|
rs140528268
|
0.00031
|
|
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=)
|
rs370349155
|
0.00031
|
|
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.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00030
|
|
NM_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
0.00024
|
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
|
NM_000093.5(COL5A1):c.1774-7C>A
|
rs371941850
|
0.00021
|
|
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)
|
rs375631252
|
0.00021
|
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00019
|
|
NM_000093.5(COL5A1):c.2844+20G>A
|
rs200916696
|
0.00019
|
|
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.2799+11G>A
|
rs377322092
|
0.00018
|
|
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=)
|
rs199630108
|
0.00017
|
|
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)
|
rs145090868
|
0.00017
|
|
NM_000093.5(COL5A1):c.3114+12G>C
|
rs528913410
|
0.00015
|
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00015
|
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
|
NM_000093.5(COL5A1):c.3906+19C>T
|
rs571788196
|
0.00014
|
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
|
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=)
|
rs200073020
|
0.00014
|
|
NM_000093.5(COL5A1):c.1476C>T (p.Val492=)
|
rs141093527
|
0.00013
|
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00013
|
|
NM_000093.5(COL5A1):c.3744+19C>T
|
rs200498760
|
0.00013
|
|
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile)
|
rs145757313
|
0.00013
|
|
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val)
|
rs112858705
|
0.00013
|
|
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00012
|
|
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.2089-8G>A
|
rs368595229
|
0.00011
|
|
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)
|
rs146195310
|
0.00011
|
|
NM_000093.5(COL5A1):c.3528+19G>T
|
rs200672136
|
0.00011
|
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
|
NM_000093.5(COL5A1):c.-4C>G
|
rs769694875
|
0.00010
|
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
|
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=)
|
rs367804791
|
0.00010
|
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
|
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=)
|
rs764683617
|
0.00009
|
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00009
|
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
|
NM_000093.5(COL5A1):c.1495-11C>A
|
rs199501759
|
0.00008
|
|
NM_000093.5(COL5A1):c.1935+12C>T
|
rs368245632
|
0.00008
|
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00008
|
|
NM_000093.5(COL5A1):c.4068+7G>A
|
rs587780905
|
0.00008
|
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00007
|
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00007
|
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00007
|
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00007
|
|
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)
|
rs372109796
|
0.00007
|
|
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)
|
rs564398230
|
0.00007
|
|
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=)
|
rs551695730
|
0.00007
|
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
0.00006
|
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00006
|
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
|
NM_000093.5(COL5A1):c.2646+14G>A
|
rs200583777
|
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.3780C>T (p.Ser1260=)
|
rs150591401
|
0.00006
|
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
|
NM_000093.5(COL5A1):c.408C>T (p.Pro136=)
|
rs376435758
|
0.00006
|
|
NM_000093.5(COL5A1):c.4231-9G>A
|
rs570545638
|
0.00006
|
|
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=)
|
rs537406193
|
0.00006
|
|
NM_000093.5(COL5A1):c.526A>C (p.Asn176His)
|
rs369396868
|
0.00006
|
|
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)
|
rs144844792
|
0.00006
|
|
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met)
|
rs148548209
|
0.00006
|
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00005
|
|
NM_000093.5(COL5A1):c.2593-15T>C
|
rs747677530
|
0.00005
|
|
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=)
|
rs774035950
|
0.00005
|
|
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
|
rs376248130
|
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.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
|
NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser)
|
rs537950589
|
0.00004
|
|
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)
|
rs367755808
|
0.00004
|
|
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu)
|
rs138259992
|
0.00004
|
|
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)
|
rs377123592
|
0.00004
|
|
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)
|
rs201335857
|
0.00004
|
|
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)
|
rs183114696
|
0.00004
|
|
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu)
|
rs369971694
|
0.00004
|
|
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu)
|
rs770737485
|
0.00004
|
|
NM_000093.5(COL5A1):c.945G>A (p.Thr315=)
|
rs149123775
|
0.00004
|
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00003
|
|
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)
|
rs762108965
|
0.00003
|
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
|
NM_000093.5(COL5A1):c.2386-6G>A
|
rs373383768
|
0.00003
|
|
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys)
|
rs762336160
|
0.00003
|
|
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)
|
rs760754491
|
0.00003
|
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
|
NM_000093.5(COL5A1):c.513C>T (p.Ser171=)
|
rs754997436
|
0.00003
|
|
NM_000093.5(COL5A1):c.615C>A (p.Ile205=)
|
rs201286195
|
0.00003
|
|
NM_000093.5(COL5A1):c.655-16G>A
|
rs371301230
|
0.00003
|
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
|
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)
|
rs763456705
|
0.00002
|
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
|
NM_000093.5(COL5A1):c.2382C>T (p.Val794=)
|
rs758190171
|
0.00002
|
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
|
NM_000093.5(COL5A1):c.2808C>T (p.Ser936=)
|
rs142849628
|
0.00002
|
|
NM_000093.5(COL5A1):c.3906+7G>A
|
rs200333878
|
0.00002
|
|
NM_000093.5(COL5A1):c.-17G>A
|
rs1554772552
|
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.1308G>A (p.Ala436=)
|
rs200959477
|
0.00001
|
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
|
NM_000093.5(COL5A1):c.1674G>A (p.Arg558=)
|
rs746502968
|
0.00001
|
|
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=)
|
rs143647239
|
0.00001
|
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
|
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala)
|
rs751649145
|
0.00001
|
|
NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser)
|
rs943838033
|
0.00001
|
|
NM_000093.5(COL5A1):c.2188-8C>T
|
rs369789387
|
0.00001
|
|
NM_000093.5(COL5A1):c.2430+4A>C
|
rs772211603
|
0.00001
|
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
|
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=)
|
rs144775947
|
0.00001
|
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
|
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=)
|
rs770622608
|
0.00001
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
0.00001
|
|
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)
|
rs1131691874
|
0.00001
|
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
0.00001
|
|
NM_000093.5(COL5A1):c.3366+11C>T
|
rs863223438
|
0.00001
|
|
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
|
rs1462929012
|
0.00001
|
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
|
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)
|
rs775853003
|
0.00001
|
|
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)
|
rs1339426358
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
|
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)
|
rs758197769
|
|
|
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=)
|
rs139406076
|
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])
|
rs745934765
|
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
|
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)
|
rs769010469
|
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
|
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=)
|
rs150993138
|
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
|
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)
|
rs1554798918
|
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
|
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.2592+16C>T
|
rs145429817
|
|
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
|
NM_000093.5(COL5A1):c.3367-14_3367-12del
|
rs750002182
|
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
|
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg)
|
rs772445337
|
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
|
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs)
|
rs794727760
|
|
|
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
|
rs2132864295
|
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
|
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.766G>A (p.Asp256Asn)
|
rs886038237
|
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
rs2490487778
|
|
|
Single allele
|
|
|