NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
NM_000093.5(COL5A1):c.2952+11A>T
|
rs4240707
|
0.51337
|
NM_000093.5(COL5A1):c.2430+20C>T
|
rs3124932
|
0.36473
|
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
|
rs3124299
|
0.34823
|
NM_000093.5(COL5A1):c.4176+9T>G
|
rs10858282
|
0.31743
|
NM_000093.5(COL5A1):c.1569+16A>G
|
rs12685946
|
0.29746
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
NM_000093.5(COL5A1):c.3745-18G>A
|
rs45556931
|
0.10766
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
NM_000093.5(COL5A1):c.1569+15C>T
|
rs62574081
|
0.07860
|
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)
|
rs61729545
|
0.06122
|
NM_000093.5(COL5A1):c.2745+15A>T
|
rs79481146
|
0.04340
|
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)
|
rs78511105
|
0.03168
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
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.2799+4T>C
|
rs75815945
|
0.01279
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
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
|
0.00543
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00515
|
NM_000093.5(COL5A1):c.2799+13C>A
|
rs75668257
|
0.00443
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00288
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
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.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
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.277+6T>G
|
rs201910803
|
0.00174
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=)
|
rs151173863
|
0.00129
|
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)
|
rs201166370
|
0.00124
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000093.5(COL5A1):c.924+13C>T
|
rs199836060
|
0.00106
|
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.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)
|
rs139788610
|
0.00087
|
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
|
0.00071
|
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr)
|
rs147868179
|
0.00070
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_000093.5(COL5A1):c.252C>T (p.Ser84=)
|
rs151293601
|
0.00066
|
NM_000093.5(COL5A1):c.3115-14G>A
|
rs368945793
|
0.00065
|
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.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
NM_000093.5(COL5A1):c.2700+16C>T
|
rs371771646
|
0.00056
|
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)
|
rs147008954
|
0.00054
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
0.00047
|
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00044
|
NM_000093.5(COL5A1):c.2089-9C>T
|
rs181246690
|
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.1281G>A (p.Pro427=)
|
rs147292897
|
0.00038
|
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.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
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.2331+16G>A
|
rs199654385
|
0.00028
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
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.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
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.921C>T (p.Pro307=)
|
rs144335980
|
0.00021
|
NM_000093.5(COL5A1):c.999C>T (p.Val333=)
|
rs138702819
|
0.00020
|
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.3185G>A (p.Arg1062Gln)
|
rs771807198
|
0.00018
|
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)
|
rs145090868
|
0.00017
|
NM_000093.5(COL5A1):c.417C>T (p.Leu139=)
|
rs138687282
|
0.00017
|
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val)
|
rs145552797
|
0.00017
|
NM_000093.5(COL5A1):c.1569+20G>A
|
rs200690483
|
0.00016
|
NM_000093.5(COL5A1):c.2287-16T>G
|
rs201161949
|
0.00016
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
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.3114+12G>C
|
rs528913410
|
0.00014
|
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00014
|
NM_000093.5(COL5A1):c.36G>C (p.Ala12=)
|
rs1029930975
|
0.00014
|
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.1720-12A>C
|
rs372891725
|
0.00013
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000093.5(COL5A1):c.2332-16T>A
|
rs369948898
|
0.00013
|
NM_000093.5(COL5A1):c.2845-17C>A
|
rs368737278
|
0.00013
|
NM_000093.5(COL5A1):c.3576C>A (p.Gly1192=)
|
rs141676973
|
0.00013
|
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile)
|
rs145757313
|
0.00013
|
NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=)
|
rs368011067
|
0.00013
|
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val)
|
rs112858705
|
0.00013
|
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
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.2493C>T (p.Ile831=)
|
rs199630108
|
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.3750C>G (p.Pro1250=)
|
rs192806271
|
0.00011
|
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=)
|
rs143794669
|
0.00011
|
NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu)
|
rs377062537
|
0.00011
|
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr)
|
rs370499963
|
0.00010
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=)
|
rs745633063
|
0.00010
|
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.2386-7C>T
|
rs746845504
|
0.00010
|
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=)
|
rs142347159
|
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.1283C>T (p.Ser428Leu)
|
rs770793962
|
0.00009
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.1570-7C>T
|
rs566717644
|
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.1935+12C>T
|
rs368245632
|
0.00009
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
NM_000093.5(COL5A1):c.2331+15C>T
|
rs369093559
|
0.00009
|
NM_000093.5(COL5A1):c.2844+19C>T
|
rs370610276
|
0.00009
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00009
|
NM_000093.5(COL5A1):c.3007-19A>G
|
rs370503113
|
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.3491C>T (p.Pro1164Leu)
|
rs368305377
|
0.00009
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
NM_000093.5(COL5A1):c.3744+19C>T
|
rs200498760
|
0.00009
|
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=)
|
rs541963919
|
0.00009
|
NM_000093.5(COL5A1):c.4068+7G>A
|
rs587780905
|
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.1495-11C>A
|
rs199501759
|
0.00008
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=)
|
rs146757272
|
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.3852+9C>T
|
rs548696863
|
0.00008
|
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala)
|
rs556167410
|
0.00008
|
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=)
|
rs767372665
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00008
|
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=)
|
rs771885855
|
0.00007
|
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=)
|
rs758336822
|
0.00007
|
NM_000093.5(COL5A1):c.3115-10C>T
|
rs1018752469
|
0.00007
|
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)
|
rs564398230
|
0.00007
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00007
|
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu)
|
rs141605663
|
0.00007
|
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=)
|
rs145363211
|
0.00007
|
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln)
|
rs770896795
|
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.934C>G (p.Pro312Ala)
|
rs140105243
|
0.00007
|
NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu)
|
rs746905443
|
0.00006
|
NM_000093.5(COL5A1):c.1668A>G (p.Ala556=)
|
rs750022273
|
0.00006
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
0.00006
|
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.2646+14G>A
|
rs200583777
|
0.00006
|
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=)
|
rs746323129
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=)
|
rs767002656
|
0.00006
|
NM_000093.5(COL5A1):c.3205-18C>G
|
rs199557977
|
0.00006
|
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
|
rs376248130
|
0.00006
|
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=)
|
rs372844807
|
0.00006
|
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=)
|
rs145134399
|
0.00006
|
NM_000093.5(COL5A1):c.3510G>A (p.Lys1170=)
|
rs543950268
|
0.00006
|
NM_000093.5(COL5A1):c.3600G>A (p.Pro1200=)
|
rs187345008
|
0.00006
|
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=)
|
rs150591401
|
0.00006
|
NM_000093.5(COL5A1):c.3906+11G>A
|
rs372939968
|
0.00006
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
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.447G>A (p.Pro149=)
|
rs200290973
|
0.00006
|
NM_000093.5(COL5A1):c.753C>T (p.Thr251=)
|
rs374813957
|
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.936G>A (p.Pro312=)
|
rs150364815
|
0.00006
|
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=)
|
rs200245996
|
0.00005
|
NM_000093.5(COL5A1):c.1165-8C>T
|
rs770303209
|
0.00005
|
NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp)
|
rs745360062
|
0.00005
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=)
|
rs981088114
|
0.00005
|
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)
|
rs372082908
|
0.00005
|
NM_000093.5(COL5A1):c.2034+18G>C
|
rs200055343
|
0.00005
|
NM_000093.5(COL5A1):c.2034C>T (p.Pro678=)
|
rs373100663
|
0.00005
|
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=)
|
rs368590323
|
0.00005
|
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)
|
rs377123592
|
0.00005
|
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp)
|
rs185912761
|
0.00005
|
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=)
|
rs144775947
|
0.00005
|
NM_000093.5(COL5A1):c.2593-15T>C
|
rs747677530
|
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.3087G>A (p.Pro1029=)
|
rs774035950
|
0.00005
|
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=)
|
rs546229885
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000093.5(COL5A1):c.4068+11A>G
|
rs371926479
|
0.00005
|
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=)
|
rs537406193
|
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.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln)
|
rs778297413
|
0.00004
|
NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser)
|
rs537950589
|
0.00004
|
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)
|
rs372168541
|
0.00004
|
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=)
|
rs746510456
|
0.00004
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
0.00004
|
NM_000093.5(COL5A1):c.1569+19C>T
|
rs373086315
|
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.219C>T (p.Val73=)
|
rs774691915
|
0.00004
|
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=)
|
rs772257562
|
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.2286G>A (p.Pro762=)
|
rs766817444
|
0.00004
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val)
|
rs146870918
|
0.00004
|
NM_000093.5(COL5A1):c.2485-10T>C
|
rs369553063
|
0.00004
|
NM_000093.5(COL5A1):c.2592+17G>A
|
rs750947144
|
0.00004
|
NM_000093.5(COL5A1):c.2997C>T (p.Val999=)
|
rs201897490
|
0.00004
|
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)
|
rs370321707
|
0.00004
|
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=)
|
rs770802769
|
0.00004
|
NM_000093.5(COL5A1):c.4044C>T (p.Gly1348=)
|
rs369945188
|
0.00004
|
NM_000093.5(COL5A1):c.4123-20G>A
|
rs751725995
|
0.00004
|
NM_000093.5(COL5A1):c.4155A>G (p.Pro1385=)
|
rs1476164063
|
0.00004
|
NM_000093.5(COL5A1):c.4231-19G>T
|
rs1002531122
|
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.476A>G (p.Asn159Ser)
|
rs551016059
|
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.997G>A (p.Val333Ile)
|
rs762624092
|
0.00004
|
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys)
|
rs769752636
|
0.00003
|
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr)
|
rs755289850
|
0.00003
|
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)
|
rs762108965
|
0.00003
|
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His)
|
rs767752804
|
0.00003
|
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=)
|
rs373846823
|
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.1587C>T (p.Gly529=)
|
rs529255491
|
0.00003
|
NM_000093.5(COL5A1):c.1827+11C>T
|
rs374795810
|
0.00003
|
NM_000093.5(COL5A1):c.192G>A (p.Thr64=)
|
rs746717050
|
0.00003
|
NM_000093.5(COL5A1):c.2035-10C>T
|
rs754111650
|
0.00003
|
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His)
|
rs371580094
|
0.00003
|
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=)
|
rs186098435
|
0.00003
|
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu)
|
rs779540528
|
0.00003
|
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)
|
rs575535171
|
0.00003
|
NM_000093.5(COL5A1):c.2386-6G>A
|
rs373383768
|
0.00003
|
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=)
|
rs769239532
|
0.00003
|
NM_000093.5(COL5A1):c.2430+7C>A
|
rs569413440
|
0.00003
|
NM_000093.5(COL5A1):c.2484+6C>T
|
rs576976549
|
0.00003
|
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys)
|
rs762336160
|
0.00003
|
NM_000093.5(COL5A1):c.2706C>T (p.Thr902=)
|
rs781027757
|
0.00003
|
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln)
|
rs747046727
|
0.00003
|
NM_000093.5(COL5A1):c.2899-13G>T
|
rs761096695
|
0.00003
|
NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala)
|
rs759627305
|
0.00003
|
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=)
|
rs766208976
|
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.3303C>T (p.Ile1101=)
|
rs760754491
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000093.5(COL5A1):c.3529-4G>A
|
rs779064113
|
0.00003
|
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=)
|
rs766961124
|
0.00003
|
NM_000093.5(COL5A1):c.3745-17T>C
|
rs376808101
|
0.00003
|
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln)
|
rs141768094
|
0.00003
|
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=)
|
rs1233949819
|
0.00003
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=)
|
rs551695730
|
0.00003
|
NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu)
|
rs771130127
|
0.00003
|
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=)
|
rs773909152
|
0.00003
|
NM_000093.5(COL5A1):c.4069-16G>A
|
rs201267375
|
0.00003
|
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
|
rs749162303
|
0.00003
|
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)
|
rs759464073
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=)
|
rs759256816
|
0.00003
|
NM_000093.5(COL5A1):c.4392+8A>G
|
rs764596365
|
0.00003
|
NM_000093.5(COL5A1):c.513C>T (p.Ser171=)
|
rs754997436
|
0.00003
|
NM_000093.5(COL5A1):c.603C>T (p.Ile201=)
|
rs747624923
|
0.00003
|
NM_000093.5(COL5A1):c.615C>A (p.Ile205=)
|
rs201286195
|
0.00003
|
NM_000093.5(COL5A1):c.654+11G>A
|
rs750385038
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)
|
rs757434449
|
0.00003
|
NM_000093.5(COL5A1):c.735C>T (p.Asp245=)
|
rs746769184
|
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.1122C>T (p.Ala374=)
|
rs758640551
|
0.00002
|
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.1190C>T (p.Ala397Val)
|
rs537424110
|
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.1284G>A (p.Ser428=)
|
rs745575705
|
0.00002
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
NM_000093.5(COL5A1):c.1332+20C>T
|
rs935688642
|
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.1431+10C>T
|
rs1176378428
|
0.00002
|
NM_000093.5(COL5A1):c.1431+11G>A
|
rs768116740
|
0.00002
|
NM_000093.5(COL5A1):c.1495-3C>T
|
rs943808454
|
0.00002
|
NM_000093.5(COL5A1):c.1508G>A (p.Arg503His)
|
rs146716315
|
0.00002
|
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)
|
rs375762619
|
0.00002
|
NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn)
|
rs779170635
|
0.00002
|
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg)
|
rs1131691360
|
0.00002
|
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=)
|
rs148094039
|
0.00002
|
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=)
|
rs761257919
|
0.00002
|
NM_000093.5(COL5A1):c.1827+16G>A
|
rs745897562
|
0.00002
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
NM_000093.5(COL5A1):c.1882-20C>G
|
rs774254944
|
0.00002
|
NM_000093.5(COL5A1):c.1899C>T (p.Asp633=)
|
rs757951119
|
0.00002
|
NM_000093.5(COL5A1):c.2088+15C>T
|
rs896840592
|
0.00002
|
NM_000093.5(COL5A1):c.2133+18C>T
|
rs751486483
|
0.00002
|
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile)
|
rs148793863
|
0.00002
|
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=)
|
rs373285312
|
0.00002
|
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=)
|
rs763634004
|
0.00002
|
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=)
|
rs767014646
|
0.00002
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
NM_000093.5(COL5A1):c.2646+18T>A
|
rs754790166
|
0.00002
|
NM_000093.5(COL5A1):c.2694C>T (p.Gly898=)
|
rs139394549
|
0.00002
|
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu)
|
rs780406577
|
0.00002
|
NM_000093.5(COL5A1):c.2715G>A (p.Lys905=)
|
rs533217850
|
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.2895C>G (p.Pro965=)
|
rs765189446
|
0.00002
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
NM_000093.5(COL5A1):c.2952+9C>T
|
rs955068180
|
0.00002
|
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)
|
rs780601499
|
0.00002
|
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His)
|
rs754184016
|
0.00002
|
NM_000093.5(COL5A1):c.3258+7C>A
|
rs750710374
|
0.00002
|
NM_000093.5(COL5A1):c.3366+18T>C
|
rs751538872
|
0.00002
|
NM_000093.5(COL5A1):c.3483C>T (p.Ile1161=)
|
rs576483507
|
0.00002
|
NM_000093.5(COL5A1):c.3599C>T (p.Pro1200Leu)
|
rs781363147
|
0.00002
|
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=)
|
rs748000980
|
0.00002
|
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=)
|
rs377422775
|
0.00002
|
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=)
|
rs779638584
|
0.00002
|
NM_000093.5(COL5A1):c.3774A>G (p.Gly1258=)
|
rs938941709
|
0.00002
|
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)
|
rs762625123
|
0.00002
|
NM_000093.5(COL5A1):c.3852+3G>A
|
rs1220391738
|
0.00002
|
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys)
|
rs149717587
|
0.00002
|
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=)
|
rs745918663
|
0.00002
|
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser)
|
rs769814019
|
0.00002
|
NM_000093.5(COL5A1):c.3906+7G>A
|
rs200333878
|
0.00002
|
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=)
|
rs1057524173
|
0.00002
|
NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=)
|
rs951777673
|
0.00002
|
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=)
|
rs145101509
|
0.00002
|
NM_000093.5(COL5A1):c.420C>T (p.Tyr140=)
|
rs540553997
|
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.528T>C (p.Asn176=)
|
rs769674770
|
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.655-16G>A
|
rs371301230
|
0.00002
|
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser)
|
rs751277764
|
0.00001
|
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=)
|
rs761397885
|
0.00001
|
NM_000093.5(COL5A1):c.1044G>A (p.Thr348=)
|
rs1246095864
|
0.00001
|
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=)
|
rs370018361
|
0.00001
|
NM_000093.5(COL5A1):c.1067C>T (p.Thr356Ile)
|
rs777844099
|
0.00001
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00001
|
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn)
|
rs1420950002
|
0.00001
|
NM_000093.5(COL5A1):c.1119G>A (p.Gly373=)
|
rs1060504528
|
0.00001
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
NM_000093.5(COL5A1):c.1131C>T (p.Pro377=)
|
rs747058182
|
0.00001
|
NM_000093.5(COL5A1):c.1134C>T (p.Thr378=)
|
rs373594322
|
0.00001
|
NM_000093.5(COL5A1):c.1140C>T (p.Thr380=)
|
rs749315207
|
0.00001
|
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)
|
rs768269251
|
0.00001
|
NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe)
|
rs773041897
|
0.00001
|
NM_000093.5(COL5A1):c.1172C>T (p.Pro391Leu)
|
rs373102877
|
0.00001
|
NM_000093.5(COL5A1):c.1175C>T (p.Pro392Leu)
|
rs1290737803
|
0.00001
|
NM_000093.5(COL5A1):c.1229G>A (p.Arg410Gln)
|
rs769244075
|
0.00001
|
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=)
|
rs1272170006
|
0.00001
|
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=)
|
rs775974461
|
0.00001
|
NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=)
|
rs746576822
|
0.00001
|
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His)
|
rs760798318
|
0.00001
|
NM_000093.5(COL5A1):c.1272C>A (p.Thr424=)
|
rs758427503
|
0.00001
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=)
|
rs200959477
|
0.00001
|
NM_000093.5(COL5A1):c.1332+4dup
|
rs886063674
|
0.00001
|
NM_000093.5(COL5A1):c.1333-7C>T
|
rs767294965
|
0.00001
|
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu)
|
rs753549769
|
0.00001
|
NM_000093.5(COL5A1):c.1389+14C>T
|
rs1219979772
|
0.00001
|
NM_000093.5(COL5A1):c.1389+7A>T
|
rs1281999280
|
0.00001
|
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)
|
rs1057518771
|
0.00001
|
NM_000093.5(COL5A1):c.1390-18C>T
|
rs1323115421
|
0.00001
|
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=)
|
rs1452745305
|
0.00001
|
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val)
|
rs763650548
|
0.00001
|
NM_000093.5(COL5A1):c.1431+20C>A
|
rs766773815
|
0.00001
|
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser)
|
rs1238395732
|
0.00001
|
NM_000093.5(COL5A1):c.1497C>T (p.Gly499=)
|
rs1473955537
|
0.00001
|
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu)
|
rs778866843
|
0.00001
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
NM_000093.5(COL5A1):c.1570-10A>T
|
rs530036079
|
0.00001
|
NM_000093.5(COL5A1):c.1638G>A (p.Ala546=)
|
rs775508023
|
0.00001
|
NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr)
|
rs761717025
|
0.00001
|
NM_000093.5(COL5A1):c.1663-10T>C
|
rs767306262
|
0.00001
|
NM_000093.5(COL5A1):c.1674G>A (p.Arg558=)
|
rs746502968
|
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.1701A>C (p.Thr567=)
|
rs143647239
|
0.00001
|
NM_000093.5(COL5A1):c.1717G>A (p.Val573Met)
|
rs1304946894
|
0.00001
|
NM_000093.5(COL5A1):c.1720-11T>A
|
rs863223444
|
0.00001
|
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys)
|
rs764609002
|
0.00001
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
NM_000093.5(COL5A1):c.1755G>A (p.Pro585=)
|
rs779658584
|
0.00001
|
NM_000093.5(COL5A1):c.1761C>T (p.Asp587=)
|
rs974596853
|
0.00001
|
NM_000093.5(COL5A1):c.1797G>A (p.Pro599=)
|
rs201463583
|
0.00001
|
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu)
|
rs749007253
|
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.186C>T (p.Cys62=)
|
rs778516121
|
0.00001
|
NM_000093.5(COL5A1):c.1882-4G>T
|
rs1253885983
|
0.00001
|
NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser)
|
rs183627101
|
0.00001
|
NM_000093.5(COL5A1):c.1936-10C>T
|
rs779506561
|
0.00001
|
NM_000093.5(COL5A1):c.1936-15C>G
|
rs755787951
|
0.00001
|
NM_000093.5(COL5A1):c.1943C>G (p.Pro648Arg)
|
rs143211526
|
0.00001
|
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn)
|
rs990265730
|
0.00001
|
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln)
|
rs146074704
|
0.00001
|
NM_000093.5(COL5A1):c.1989+15G>A
|
rs765969450
|
0.00001
|
NM_000093.5(COL5A1):c.1989+4G>A
|
rs1307138217
|
0.00001
|
NM_000093.5(COL5A1):c.198A>C (p.Arg66=)
|
rs1463204835
|
0.00001
|
NM_000093.5(COL5A1):c.1990-12T>C
|
rs776163211
|
0.00001
|
NM_000093.5(COL5A1):c.1995C>T (p.Asp665=)
|
rs765776659
|
0.00001
|
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys)
|
rs764603796
|
0.00001
|
NM_000093.5(COL5A1):c.2019G>T (p.Gly673=)
|
rs139822656
|
0.00001
|
NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu)
|
rs775102627
|
0.00001
|
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu)
|
rs1389473144
|
0.00001
|
NM_000093.5(COL5A1):c.2073T>A (p.Gly691=)
|
rs1037184070
|
0.00001
|
NM_000093.5(COL5A1):c.2133+9C>T
|
rs765287192
|
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.2181C>T (p.Gly727=)
|
rs201298716
|
0.00001
|
NM_000093.5(COL5A1):c.2188-8C>T
|
rs369789387
|
0.00001
|
NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu)
|
rs1422097890
|
0.00001
|
NM_000093.5(COL5A1):c.2226A>G (p.Gly742=)
|
rs1338817325
|
0.00001
|
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=)
|
rs373617798
|
0.00001
|
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg)
|
rs769653444
|
0.00001
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
NM_000093.5(COL5A1):c.2282C>T (p.Pro761Leu)
|
rs150434732
|
0.00001
|
NM_000093.5(COL5A1):c.2331+11G>A
|
rs753145256
|
0.00001
|
NM_000093.5(COL5A1):c.2331+4G>A
|
rs1588532335
|
0.00001
|
NM_000093.5(COL5A1):c.2343C>T (p.Gly781=)
|
rs1384349031
|
0.00001
|
NM_000093.5(COL5A1):c.2382C>T (p.Val794=)
|
rs758190171
|
0.00001
|
NM_000093.5(COL5A1):c.2385+15C>T
|
rs937874882
|
0.00001
|
NM_000093.5(COL5A1):c.2388G>T (p.Gly796=)
|
rs1432407799
|
0.00001
|
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val)
|
rs745370910
|
0.00001
|
NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys)
|
rs1032017865
|
0.00001
|
NM_000093.5(COL5A1):c.2430+4A>C
|
rs772211603
|
0.00001
|
NM_000093.5(COL5A1):c.243G>A (p.Ala81=)
|
rs540291731
|
0.00001
|
NM_000093.5(COL5A1):c.2464A>G (p.Met822Val)
|
rs1060502262
|
0.00001
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
NM_000093.5(COL5A1):c.2485-18C>T
|
rs757531928
|
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.2538G>A (p.Lys846=)
|
rs751065864
|
0.00001
|
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr)
|
rs756903629
|
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.2580C>A (p.Pro860=)
|
rs762553184
|
0.00001
|
NM_000093.5(COL5A1):c.2593-14C>G
|
rs771529245
|
0.00001
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
NM_000093.5(COL5A1):c.2646+12C>T
|
rs751662116
|
0.00001
|
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=)
|
rs770622608
|
0.00001
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser)
|
rs542939338
|
0.00001
|
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val)
|
rs759338898
|
0.00001
|
NM_000093.5(COL5A1):c.2701-12C>G
|
rs751422216
|
0.00001
|
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=)
|
rs749844592
|
0.00001
|
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)
|
rs772211736
|
0.00001
|
NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp)
|
rs1257715072
|
0.00001
|
NM_000093.5(COL5A1):c.2739C>T (p.Gly913=)
|
rs1449725761
|
0.00001
|
NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met)
|
rs771090557
|
0.00001
|
NM_000093.5(COL5A1):c.2746-5T>C
|
rs777834778
|
0.00001
|
NM_000093.5(COL5A1):c.277+10G>T
|
rs774861340
|
0.00001
|
NM_000093.5(COL5A1):c.277+20G>C
|
rs772363522
|
0.00001
|
NM_000093.5(COL5A1):c.277+9C>T
|
rs748589808
|
0.00001
|
NM_000093.5(COL5A1):c.2770C>T (p.Arg924Trp)
|
rs1472700264
|
0.00001
|
NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln)
|
rs768711320
|
0.00001
|
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=)
|
rs774491536
|
0.00001
|
NM_000093.5(COL5A1):c.2800-17del
|
rs1168930103
|
0.00001
|
NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg)
|
rs751950836
|
0.00001
|
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=)
|
rs750716466
|
0.00001
|
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)
|
rs1131691874
|
0.00001
|
NM_000093.5(COL5A1):c.2845-11T>C
|
rs769433136
|
0.00001
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
NM_000093.5(COL5A1):c.2847A>T (p.Gly949=)
|
rs898479012
|
0.00001
|
NM_000093.5(COL5A1):c.2880T>G (p.Pro960=)
|
rs560755167
|
0.00001
|
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=)
|
rs1244102860
|
0.00001
|
NM_000093.5(COL5A1):c.2898+20C>T
|
rs781174331
|
0.00001
|
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser)
|
rs1189111524
|
0.00001
|
NM_000093.5(COL5A1):c.2907A>G (p.Pro969=)
|
rs1281296909
|
0.00001
|
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)
|
rs1205167823
|
0.00001
|
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr)
|
rs774095835
|
0.00001
|
NM_000093.5(COL5A1):c.2967G>A (p.Lys989=)
|
rs1838131061
|
0.00001
|
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser)
|
rs777368013
|
0.00001
|
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=)
|
rs768883188
|
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.3006+11G>A
|
rs749946777
|
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.3082C>T (p.Leu1028Phe)
|
rs762810181
|
0.00001
|
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=)
|
rs140590510
|
0.00001
|
NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=)
|
rs1016663584
|
0.00001
|
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu)
|
rs766852875
|
0.00001
|
NM_000093.5(COL5A1):c.3120C>T (p.Asp1040=)
|
rs1216403908
|
0.00001
|
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys)
|
rs367905915
|
0.00001
|
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His)
|
rs778769810
|
0.00001
|
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser)
|
rs1838252619
|
0.00001
|
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser)
|
rs763310793
|
0.00001
|
NM_000093.5(COL5A1):c.324C>T (p.Ala108=)
|
rs765929345
|
0.00001
|
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=)
|
rs949276689
|
0.00001
|
NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala)
|
rs1315080321
|
0.00001
|
NM_000093.5(COL5A1):c.3299C>T (p.Pro1100Leu)
|
rs564375308
|
0.00001
|
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His)
|
rs1482501113
|
0.00001
|
NM_000093.5(COL5A1):c.3330G>A (p.Gln1110=)
|
rs1461218386
|
0.00001
|
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala)
|
rs926426117
|
0.00001
|
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu)
|
rs139039658
|
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.3366+11C>T
|
rs863223438
|
0.00001
|
NM_000093.5(COL5A1):c.3367-16C>G
|
rs1166753078
|
0.00001
|
NM_000093.5(COL5A1):c.3441C>A (p.Gly1147=)
|
rs755982747
|
0.00001
|
NM_000093.5(COL5A1):c.3453C>T (p.Pro1151=)
|
rs753485525
|
0.00001
|
NM_000093.5(COL5A1):c.3492G>A (p.Pro1164=)
|
rs774312418
|
0.00001
|
NM_000093.5(COL5A1):c.3528+12C>T
|
rs927953209
|
0.00001
|
NM_000093.5(COL5A1):c.3528+15G>A
|
rs541481267
|
0.00001
|
NM_000093.5(COL5A1):c.3529-5C>T
|
rs755227263
|
0.00001
|
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile)
|
rs1057524867
|
0.00001
|
NM_000093.5(COL5A1):c.354C>T (p.Ser118=)
|
rs748711211
|
0.00001
|
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu)
|
rs749093832
|
0.00001
|
NM_000093.5(COL5A1):c.3582+20G>T
|
rs375930756
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000093.5(COL5A1):c.363C>T (p.Asn121=)
|
rs369180922
|
0.00001
|
NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=)
|
rs1351482667
|
0.00001
|
NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys)
|
rs1588448757
|
0.00001
|
NM_000093.5(COL5A1):c.3654A>G (p.Arg1218=)
|
rs1330978908
|
0.00001
|
NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala)
|
rs1564475073
|
0.00001
|
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)
|
rs770392149
|
0.00001
|
NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg)
|
rs771075651
|
0.00001
|
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)
|
rs1356081271
|
0.00001
|
NM_000093.5(COL5A1):c.3733G>A (p.Val1245Met)
|
rs1435045393
|
0.00001
|
NM_000093.5(COL5A1):c.3744+12T>G
|
rs750453604
|
0.00001
|
NM_000093.5(COL5A1):c.3745-20T>A
|
rs760842092
|
0.00001
|
NM_000093.5(COL5A1):c.3771A>G (p.Arg1257=)
|
rs1042269053
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.3852+10G>A
|
rs749190469
|
0.00001
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=)
|
rs879205988
|
0.00001
|
NM_000093.5(COL5A1):c.3921A>G (p.Glu1307=)
|
rs1322220087
|
0.00001
|
NM_000093.5(COL5A1):c.3933G>A (p.Lys1311=)
|
rs1331038066
|
0.00001
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
NM_000093.5(COL5A1):c.3961G>A (p.Gly1321Arg)
|
rs1034436638
|
0.00001
|
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=)
|
rs1363178603
|
0.00001
|
NM_000093.5(COL5A1):c.4015-19C>T
|
rs527971001
|
0.00001
|
NM_000093.5(COL5A1):c.4069-4A>G
|
rs377325113
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000093.5(COL5A1):c.4176+19A>C
|
rs746397034
|
0.00001
|
NM_000093.5(COL5A1):c.4177-8T>A
|
rs1838818747
|
0.00001
|
NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser)
|
rs761962890
|
0.00001
|
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
|
rs765217611
|
0.00001
|
NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys)
|
rs1370262542
|
0.00001
|
NM_000093.5(COL5A1):c.4231-10C>T
|
rs772316957
|
0.00001
|
NM_000093.5(COL5A1):c.4231-13C>T
|
rs558048358
|
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.4289C>G (p.Ala1430Gly)
|
rs765920886
|
0.00001
|
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)
|
rs755495352
|
0.00001
|
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser)
|
rs757989702
|
0.00001
|
NM_000093.5(COL5A1):c.4338+18G>C
|
rs781247782
|
0.00001
|
NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys)
|
rs1838876394
|
0.00001
|
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val)
|
rs369740453
|
0.00001
|
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)
|
rs201875250
|
0.00001
|
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=)
|
rs756096066
|
0.00001
|
NM_000093.5(COL5A1):c.4392+16C>T
|
rs763448522
|
0.00001
|
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser)
|
rs750864661
|
0.00001
|
NM_000093.5(COL5A1):c.4446+16C>T
|
rs1392869887
|
0.00001
|
NM_000093.5(COL5A1):c.456C>T (p.Tyr152=)
|
rs1833616245
|
0.00001
|
NM_000093.5(COL5A1):c.458C>A (p.Pro153His)
|
rs771925785
|
0.00001
|
NM_000093.5(COL5A1):c.460C>T (p.Leu154Phe)
|
rs1554781521
|
0.00001
|
NM_000093.5(COL5A1):c.474C>T (p.Ile158=)
|
rs372769772
|
0.00001
|
NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser)
|
rs764543567
|
0.00001
|
NM_000093.5(COL5A1):c.492-16A>G
|
rs775028310
|
0.00001
|
NM_000093.5(COL5A1):c.492-3C>T
|
rs1027866868
|
0.00001
|
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
|
rs188120737
|
0.00001
|
NM_000093.5(COL5A1):c.540C>A (p.Ile180=)
|
rs374994926
|
0.00001
|
NM_000093.5(COL5A1):c.543C>T (p.Leu181=)
|
rs368485498
|
0.00001
|
NM_000093.5(COL5A1):c.544G>A (p.Asp182Asn)
|
rs761005141
|
0.00001
|
NM_000093.5(COL5A1):c.551A>G (p.Lys184Arg)
|
rs1833662587
|
0.00001
|
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys)
|
rs765170704
|
0.00001
|
NM_000093.5(COL5A1):c.582C>T (p.Ser194=)
|
rs563191799
|
0.00001
|
NM_000093.5(COL5A1):c.595A>G (p.Ile199Val)
|
rs1041369357
|
0.00001
|
NM_000093.5(COL5A1):c.609C>T (p.Gly203=)
|
rs146054551
|
0.00001
|
NM_000093.5(COL5A1):c.610A>G (p.Ile204Val)
|
rs1060502245
|
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.692G>A (p.Arg231Gln)
|
rs373597685
|
0.00001
|
NM_000093.5(COL5A1):c.702T>C (p.Tyr234=)
|
rs767696801
|
0.00001
|
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly)
|
rs1433120962
|
0.00001
|
NM_000093.5(COL5A1):c.723C>T (p.Ser241=)
|
rs1554787555
|
0.00001
|
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn)
|
rs758431206
|
0.00001
|
NM_000093.5(COL5A1):c.756A>C (p.Pro252=)
|
rs1030582099
|
0.00001
|
NM_000093.5(COL5A1):c.762G>T (p.Ser254=)
|
rs767928508
|
0.00001
|
NM_000093.5(COL5A1):c.786+11T>G
|
rs766319028
|
0.00001
|
NM_000093.5(COL5A1):c.787-9C>G
|
rs751472921
|
0.00001
|
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro)
|
rs863223440
|
0.00001
|
NM_000093.5(COL5A1):c.801C>T (p.Asp267=)
|
rs778401280
|
0.00001
|
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=)
|
rs771253587
|
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.849C>T (p.Pro283=)
|
rs761805821
|
0.00001
|
NM_000093.5(COL5A1):c.888C>T (p.Pro296=)
|
rs747624704
|
0.00001
|
NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu)
|
rs1445863121
|
0.00001
|
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys)
|
rs199857770
|
0.00001
|
NM_000093.5(COL5A1):c.987G>A (p.Lys329=)
|
rs769516996
|
0.00001
|
NC_000009.11:g.(?_137533651)_(137534142_?)dup
|
|
|
NC_000009.11:g.(?_137534024)_(137620663_?)del
|
|
|
NC_000009.11:g.(?_137534028)_(137534148_?)dup
|
|
|
NC_000009.11:g.(?_137534034)_(137582945_?)del
|
|
|
NC_000009.11:g.(?_137534034)_(137630674_?)dup
|
|
|
NC_000009.11:g.(?_137582738)_(137593199_?)dup
|
|
|
NC_000009.11:g.(?_137582748)_(137677904_?)del
|
|
|
NC_000009.11:g.(?_137591735)_(137593199_?)del
|
|
|
NC_000009.11:g.(?_137593011)_(137727056_?)del
|
|
|
NC_000009.11:g.(?_137619102)_(137619253_?)del
|
|
|
NC_000009.11:g.(?_137619102)_(137698152_?)dup
|
|
|
NC_000009.11:g.(?_137623322)_(137623993_?)del
|
|
|
NC_000009.11:g.(?_137645560)_137650136del
|
|
|
NC_000009.11:g.(?_137664616)_(137734149_?)del
|
|
|
NC_000009.11:g.(?_137676815)_(137677914_?)del
|
|
|
NC_000009.11:g.(?_137703323)_(137734200_?)del
|
|
|
NC_000009.11:g.(?_137709604)_(137717770_?)del
|
|
|
NC_000009.11:g.(?_137733983)_(137734149_?)del
|
|
|
NC_000009.12:g.(?_134642178)_(134701343_?)del
|
|
|
NC_000009.12:g.(?_134690892)_(134691099_?)del
|
|
|
NC_000009.12:g.(?_134690892)_(134763757_?)del
|
|
|
NC_000009.12:g.(?_134690902)_(134727407_?)del
|
|
|
NC_000009.12:g.(?_134699889)_(134700142_?)del
|
|
|
NC_000009.12:g.(?_134727246)_(134728827_?)del
|
|
|
NC_000009.12:g.(?_134752569)_(134752665_?)del
|
|
|
NC_000009.12:g.(?_134782657)_(134842313_?)del
|
|
|
NC_000009.12:g.(?_134789143)_(134789218_?)dup
|
|
|
NC_000009.12:g.(?_134842147)_(134842313_?)del
|
|
|
NC_000009.12:g.134765683del
|
|
|
NM_000093.4(COL5A1):c.2389delG
|
rs1564453833
|
|
NM_000093.4(COL5A1):c.2594dup
|
rs1837444858
|
|
NM_000093.4(COL5A1):c.3746delG
|
rs35002351
|
|
NM_000093.4(COL5A1):c.4232delG
|
rs1060502259
|
|
NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)
|
|
|
NM_000093.5(COL5A1):c.1008G>A (p.Gly336=)
|
rs2132639237
|
|
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu)
|
rs1834832160
|
|
NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys)
|
|
|
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=)
|
|
|
NM_000093.5(COL5A1):c.1023G>A (p.Val341=)
|
|
|
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)
|
rs1339426358
|
|
NM_000093.5(COL5A1):c.1044G>T (p.Thr348=)
|
rs1246095864
|
|
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)
|
rs1588479393
|
|
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)
|
|
|
NM_000093.5(COL5A1):c.104G>A (p.Arg35His)
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1057G>C (p.Asp353His)
|
|
|
NM_000093.5(COL5A1):c.105del (p.Ala36fs)
|
rs2132455125
|
|
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn)
|
rs1834835178
|
|
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
|
|
|
NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del)
|
|
|
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
|
|
|
NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln)
|
|
|
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter)
|
rs769752636
|
|
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.1084G>A (p.Glu362Lys)
|
|
|
NM_000093.5(COL5A1):c.1089C>T (p.Asn363=)
|
|
|
NM_000093.5(COL5A1):c.109+10C>A
|
rs2132455152
|
|
NM_000093.5(COL5A1):c.109+10C>T
|
rs2132455152
|
|
NM_000093.5(COL5A1):c.109+11C>G
|
|
|
NM_000093.5(COL5A1):c.109+14G>A
|
rs1831318716
|
|
NM_000093.5(COL5A1):c.109+16G>A
|
|
|
NM_000093.5(COL5A1):c.109+18C>A
|
|
|
NM_000093.5(COL5A1):c.109+7G>A
|
rs1429209325
|
|
NM_000093.5(COL5A1):c.1092C>A (p.Pro364=)
|
|
|
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
|
rs1834837756
|
|
NM_000093.5(COL5A1):c.1097A>G (p.Gln366Arg)
|
rs761227399
|
|
NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro)
|
rs2132455136
|
|
NM_000093.5(COL5A1):c.110-10G>A
|
rs746555918
|
|
NM_000093.5(COL5A1):c.110-14C>T
|
|
|
NM_000093.5(COL5A1):c.110-1G>C
|
rs1833255504
|
|
NM_000093.5(COL5A1):c.110-3C>G
|
rs1554780148
|
|
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu)
|
rs1834838212
|
|
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro)
|
rs766771487
|
|
NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val)
|
|
|
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=)
|
|
|
NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser)
|
rs755289850
|
|
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
|
|
|
NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp)
|
rs201829822
|
|
NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly)
|
|
|
NM_000093.5(COL5A1):c.1122C>G (p.Ala374=)
|
rs758640551
|
|
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His)
|
rs868555520
|
|
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)
|
|
|
NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr)
|
|
|
NM_000093.5(COL5A1):c.1161C>T (p.Ser387=)
|
|
|
NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp)
|
|
|
NM_000093.5(COL5A1):c.1164+13C>A
|
rs1298341224
|
|
NM_000093.5(COL5A1):c.1164+19A>G
|
rs1207484470
|
|
NM_000093.5(COL5A1):c.1164+19A>T
|
|
|
NM_000093.5(COL5A1):c.1164+8del
|
|
|
NM_000093.5(COL5A1):c.1165-11T>C
|
|
|
NM_000093.5(COL5A1):c.1165-14dup
|
|
|
NM_000093.5(COL5A1):c.1165-20G>A
|
|
|
NM_000093.5(COL5A1):c.1165-2_1169dup
|
rs2132641901
|
|
NM_000093.5(COL5A1):c.1165-4G>T
|
rs1834877909
|
|
NM_000093.5(COL5A1):c.1170T>G (p.Ala390=)
|
rs1588480757
|
|
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=)
|
|
|
NM_000093.5(COL5A1):c.1191G>A (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly)
|
|
|
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
|
rs1834879370
|
|
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.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.1224G>T (p.Thr408=)
|
rs139406076
|
|
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.1252G>A (p.Asp418Asn)
|
|
|
NM_000093.5(COL5A1):c.1266C>G (p.Asp422Glu)
|
|
|
NM_000093.5(COL5A1):c.126_128del (p.Leu43del)
|
rs1564390373
|
|
NM_000093.5(COL5A1):c.1271C>G (p.Thr424Ser)
|
rs752619850
|
|
NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn)
|
|
|
NM_000093.5(COL5A1):c.127C>T (p.Leu43=)
|
rs2132550837
|
|
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.1290C>T (p.Ile430=)
|
rs572136244
|
|
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
|
|
|
NM_000093.5(COL5A1):c.1298G>C (p.Gly433Ala)
|
rs2132642300
|
|
NM_000093.5(COL5A1):c.129G>A (p.Leu43=)
|
rs1588441009
|
|
NM_000093.5(COL5A1):c.1305G>A (p.Pro435=)
|
|
|
NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val)
|
rs1060502244
|
|
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
|
|
|
NM_000093.5(COL5A1):c.1322T>C (p.Ile441Thr)
|
|
|
NM_000093.5(COL5A1):c.1332+3G>A
|
|
|
NM_000093.5(COL5A1):c.1332+5G>A
|
rs1564417882
|
|
NM_000093.5(COL5A1):c.1332+7G>A
|
rs1834886446
|
|
NM_000093.5(COL5A1):c.1333-11A>T
|
|
|
NM_000093.5(COL5A1):c.1333-19T>A
|
rs2132643213
|
|
NM_000093.5(COL5A1):c.1333-20C>T
|
|
|
NM_000093.5(COL5A1):c.1333-3dup
|
rs773903401
|
|
NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC
|
rs1588481731
|
|
NM_000093.5(COL5A1):c.1333-8A>C
|
rs145620416
|
|
NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val)
|
rs1060502243
|
|
NM_000093.5(COL5A1):c.1356A>G (p.Lys452=)
|
|
|
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
|
|
|
NM_000093.5(COL5A1):c.1364del (p.Lys455fs)
|
rs1564418237
|
|
NM_000093.5(COL5A1):c.1374A>G (p.Pro458=)
|
|
|
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=)
|
rs746091599
|
|
NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met)
|
rs61736827
|
|
NM_000093.5(COL5A1):c.1384G>A (p.Glu462Lys)
|
rs761770226
|
|
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.1389+10T>C
|
rs2132643477
|
|
NM_000093.5(COL5A1):c.1389+15T>C
|
|
|
NM_000093.5(COL5A1):c.1389+17A>T
|
rs1298311702
|
|
NM_000093.5(COL5A1):c.1389+8C>G
|
|
|
NM_000093.5(COL5A1):c.1390-14C>G
|
|
|
NM_000093.5(COL5A1):c.1390-14C>T
|
rs750785912
|
|
NM_000093.5(COL5A1):c.1390-17T>C
|
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000093.5(COL5A1):c.1390-6C>T
|
rs1381061693
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
NM_000093.5(COL5A1):c.1402G>C (p.Glu468Gln)
|
|
|
NM_000093.5(COL5A1):c.1406_1407delinsAA (p.Gly469Glu)
|
|
|
NM_000093.5(COL5A1):c.1407C>T (p.Gly469=)
|
|
|
NM_000093.5(COL5A1):c.1410G>A (p.Pro470=)
|
rs148389741
|
|
NM_000093.5(COL5A1):c.1410G>C (p.Pro470=)
|
rs148389741
|
|
NM_000093.5(COL5A1):c.1428C>G (p.Pro476=)
|
rs745633063
|
|
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+16del
|
rs2132655351
|
|
NM_000093.5(COL5A1):c.1431+1G>A
|
|
|
NM_000093.5(COL5A1):c.1431+5G>C
|
rs1835185397
|
|
NM_000093.5(COL5A1):c.1432-18C>T
|
rs761261485
|
|
NM_000093.5(COL5A1):c.1432-8A>G
|
|
|
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.1445C>T (p.Pro482Leu)
|
rs565329216
|
|
NM_000093.5(COL5A1):c.1454C>T (p.Thr485Ile)
|
|
|
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=)
|
|
|
NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg)
|
rs2132655977
|
|
NM_000093.5(COL5A1):c.1464C>T (p.Pro488=)
|
rs1835195730
|
|
NM_000093.5(COL5A1):c.1470C>T (p.Gly490=)
|
rs2132655989
|
|
NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala)
|
|
|
NM_000093.5(COL5A1):c.1495-6C>T
|
|
|
NM_000093.5(COL5A1):c.1495-7T>A
|
rs1835738568
|
|
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr)
|
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.1503del (p.Gly502fs)
|
rs1554792011
|
|
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
|
|
|
NM_000093.5(COL5A1):c.1521T>G (p.Pro507=)
|
rs1835740030
|
|
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
|
rs878853652
|
|
NM_000093.5(COL5A1):c.1548A>G (p.Pro516=)
|
|
|
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+10dup
|
rs1394440955
|
|
NM_000093.5(COL5A1):c.1569+15C>G
|
|
|
NM_000093.5(COL5A1):c.1569+15_1569+16inv
|
|
|
NM_000093.5(COL5A1):c.1569+1G>A
|
rs2132682690
|
|
NM_000093.5(COL5A1):c.1569+6T>C
|
rs1588502477
|
|
NM_000093.5(COL5A1):c.1570-10dup
|
|
|
NM_000093.5(COL5A1):c.1570-9C>T
|
rs548393414
|
|
NM_000093.5(COL5A1):c.1573C>T (p.Arg525Trp)
|
|
|
NM_000093.5(COL5A1):c.1578T>C (p.Phe526=)
|
rs1835749798
|
|
NM_000093.5(COL5A1):c.1581A>G (p.Gly527=)
|
rs547134376
|
|
NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val)
|
|
|
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)
|
rs769010469
|
|
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=)
|
|
|
NM_000093.5(COL5A1):c.1596G>T (p.Ala532=)
|
|
|
NM_000093.5(COL5A1):c.15C>A (p.Thr5=)
|
|
|
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=)
|
|
|
NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
|
|
|
NM_000093.5(COL5A1):c.1617C>T (p.Val539=)
|
|
|
NM_000093.5(COL5A1):c.1620A>C (p.Ser540=)
|
rs1033262221
|
|
NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter)
|
rs2132683271
|
|
NM_000093.5(COL5A1):c.162A>G (p.Gly54=)
|
|
|
NM_000093.5(COL5A1):c.162A>T (p.Gly54=)
|
rs764431997
|
|
NM_000093.5(COL5A1):c.1630del (p.Ser544fs)
|
rs2132683277
|
|
NM_000093.5(COL5A1):c.1631C>T (p.Ser544Phe)
|
|
|
NM_000093.5(COL5A1):c.1638G>T (p.Ala546=)
|
rs775508023
|
|
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
|
rs201625736
|
|
NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe)
|
|
|
NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys)
|
|
|
NM_000093.5(COL5A1):c.1650C>T (p.Leu550=)
|
|
|
NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
|
|
|
NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val)
|
rs767143136
|
|
NM_000093.5(COL5A1):c.1662+11C>T
|
rs2132683374
|
|
NM_000093.5(COL5A1):c.1662+15_1662+22dup
|
|
|
NM_000093.5(COL5A1):c.1662+1G>A
|
rs1835753446
|
|
NM_000093.5(COL5A1):c.1662+6T>C
|
|
|
NM_000093.5(COL5A1):c.1668A>C (p.Ala556=)
|
|
|
NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser)
|
|
|
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu)
|
rs753260027
|
|
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys)
|
rs1258095362
|
|
NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)
|
|
|
NM_000093.5(COL5A1):c.1716T>G (p.Pro572=)
|
rs2132687220
|
|
NM_000093.5(COL5A1):c.1719+13C>A
|
|
|
NM_000093.5(COL5A1):c.1719+13C>G
|
rs938125770
|
|
NM_000093.5(COL5A1):c.1719+19T>G
|
rs1048557481
|
|
NM_000093.5(COL5A1):c.1719+7C>A
|
rs1384002863
|
|
NM_000093.5(COL5A1):c.1719+8A>T
|
rs747192480
|
|
NM_000093.5(COL5A1):c.1720-136_1929del
|
|
|
NM_000093.5(COL5A1):c.1720-14C>T
|
|
|
NM_000093.5(COL5A1):c.1720-16C>T
|
|
|
NM_000093.5(COL5A1):c.1720-1G>A
|
rs1835880166
|
|
NM_000093.5(COL5A1):c.1720-3T>C
|
rs960627780
|
|
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
|
|
|
NM_000093.5(COL5A1):c.1725C>T (p.Pro575=)
|
|
|
NM_000093.5(COL5A1):c.1727del (p.Pro576fs)
|
rs1488498065
|
|
NM_000093.5(COL5A1):c.1728del (p.Ser578fs)
|
rs2132689832
|
|
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn)
|
|
|
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg)
|
|
|
NM_000093.5(COL5A1):c.1749C>T (p.Gly583=)
|
|
|
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala)
|
rs751649145
|
|
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met)
|
|
|
NM_000093.5(COL5A1):c.1773+15T>G
|
|
|
NM_000093.5(COL5A1):c.1773+17C>A
|
|
|
NM_000093.5(COL5A1):c.1773+9G>A
|
|
|
NM_000093.5(COL5A1):c.1774-16C>A
|
rs755041858
|
|
NM_000093.5(COL5A1):c.1774-16C>T
|
rs755041858
|
|
NM_000093.5(COL5A1):c.1774-1G>A
|
rs2132690733
|
|
NM_000093.5(COL5A1):c.1774-7del
|
|
|
NM_000093.5(COL5A1):c.1774-8C>T
|
rs1411915444
|
|
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.1782A>T (p.Arg594=)
|
|
|
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala)
|
rs754773665
|
|
NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter)
|
rs2132690786
|
|
NM_000093.5(COL5A1):c.1794C>G (p.Gly598=)
|
rs370565229
|
|
NM_000093.5(COL5A1):c.1796C>T (p.Pro599Leu)
|
|
|
NM_000093.5(COL5A1):c.1806G>A (p.Pro602=)
|
|
|
NM_000093.5(COL5A1):c.180C>A (p.Gly60=)
|
|
|
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.1827+8G>T
|
|
|
NM_000093.5(COL5A1):c.1828-11C>T
|
|
|
NM_000093.5(COL5A1):c.1828-12C>G
|
|
|
NM_000093.5(COL5A1):c.1836T>C (p.Ala612=)
|
|
|
NM_000093.5(COL5A1):c.1842T>G (p.Ser614Arg)
|
|
|
NM_000093.5(COL5A1):c.1850C>T (p.Ala617Val)
|
rs1588508705
|
|
NM_000093.5(COL5A1):c.1863T>G (p.Pro621=)
|
|
|
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His)
|
|
|
NM_000093.5(COL5A1):c.1881+14C>T
|
|
|
NM_000093.5(COL5A1):c.1881+3A>G
|
|
|
NM_000093.5(COL5A1):c.1881+4G>A
|
|
|
NM_000093.5(COL5A1):c.1881+9C>T
|
rs1030738880
|
|
NM_000093.5(COL5A1):c.1882-5del
|
rs1554793544
|
|
NM_000093.5(COL5A1):c.1882-9T>C
|
rs1836058051
|
|
NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly)
|
rs2132698898
|
|
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val)
|
|
|
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val)
|
rs777506210
|
|
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=)
|
rs781663334
|
|
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)
|
rs781663334
|
|
NM_000093.5(COL5A1):c.1921G>A (p.Glu641Lys)
|
|
|
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp)
|
rs780322561
|
|
NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn)
|
rs918992441
|
|
NM_000093.5(COL5A1):c.1929C>T (p.Gly643=)
|
|
|
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr)
|
rs1836060732
|
|
NM_000093.5(COL5A1):c.1935+14C>G
|
rs2132699069
|
|
NM_000093.5(COL5A1):c.1935+18G>A
|
|
|
NM_000093.5(COL5A1):c.1936-16C>G
|
rs199694949
|
|
NM_000093.5(COL5A1):c.1937_1946del
|
rs2132717812
|
|
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu)
|
rs150890005
|
|
NM_000093.5(COL5A1):c.1953C>A (p.Ser651=)
|
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
|
|
|
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro)
|
rs146074704
|
|
NM_000093.5(COL5A1):c.1989+14C>T
|
|
|
NM_000093.5(COL5A1):c.1989+17C>T
|
rs981100115
|
|
NM_000093.5(COL5A1):c.1989+1G>C
|
rs1836462685
|
|
NM_000093.5(COL5A1):c.1989+5G>C
|
|
|
NM_000093.5(COL5A1):c.198A>G (p.Arg66=)
|
rs1463204835
|
|
NM_000093.5(COL5A1):c.1990-12del
|
|
|
NM_000093.5(COL5A1):c.1990-12dup
|
rs1445580029
|
|
NM_000093.5(COL5A1):c.1990-5T>C
|
|
|
NM_000093.5(COL5A1):c.1990-6C>G
|
|
|
NM_000093.5(COL5A1):c.1990-7T>C
|
|
|
NM_000093.5(COL5A1):c.1990-9C>T
|
|
|
NM_000093.5(COL5A1):c.1A>G (p.Met1Val)
|
rs2132454722
|
|
NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln)
|
rs764603796
|
|
NM_000093.5(COL5A1):c.2016G>A (p.Arg672=)
|
|
|
NM_000093.5(COL5A1):c.2019G>A (p.Gly673=)
|
rs139822656
|
|
NM_000093.5(COL5A1):c.2019G>C (p.Gly673=)
|
rs139822656
|
|
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp)
|
|
|
NM_000093.5(COL5A1):c.2034+16G>C
|
|
|
NM_000093.5(COL5A1):c.2034+1G>A
|
rs886042173
|
|
NM_000093.5(COL5A1):c.2034+2T>A
|
|
|
NM_000093.5(COL5A1):c.2035-13T>C
|
|
|
NM_000093.5(COL5A1):c.2035-14C>A
|
|
|
NM_000093.5(COL5A1):c.2041C>G (p.Arg681Gly)
|
|
|
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys)
|
rs1564445192
|
|
NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu)
|
|
|
NM_000093.5(COL5A1):c.2047C>T (p.Leu683=)
|
|
|
NM_000093.5(COL5A1):c.2049G>C (p.Leu683=)
|
rs1060504529
|
|
NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala)
|
|
|
NM_000093.5(COL5A1):c.2070A>G (p.Pro690=)
|
rs1060504527
|
|
NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys)
|
|
|
NM_000093.5(COL5A1):c.2082A>G (p.Gly694=)
|
|
|
NM_000093.5(COL5A1):c.2088+16G>A
|
|
|
NM_000093.5(COL5A1):c.2088+18C>T
|
|
|
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.2106C>T (p.Asp702=)
|
|
|
NM_000093.5(COL5A1):c.2109C>T (p.Gly703=)
|
|
|
NM_000093.5(COL5A1):c.2115G>A (p.Pro705=)
|
|
|
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
|
|
|
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr)
|
|
|
NM_000093.5(COL5A1):c.2133+13G>A
|
|
|
NM_000093.5(COL5A1):c.2133+14del
|
|
|
NM_000093.5(COL5A1):c.2133+19G>A
|
rs757103259
|
|
NM_000093.5(COL5A1):c.2134-14C>G
|
|
|
NM_000093.5(COL5A1):c.2134-4G>T
|
|
|
NM_000093.5(COL5A1):c.2138C>T (p.Pro713Leu)
|
|
|
NM_000093.5(COL5A1):c.213G>C (p.Pro71=)
|
|
|
NM_000093.5(COL5A1):c.213G>T (p.Pro71=)
|
rs775666676
|
|
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)
|
rs1554796176
|
|
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter)
|
rs1060502258
|
|
NM_000093.5(COL5A1):c.2148G>A (p.Glu716=)
|
rs368917234
|
|
NM_000093.5(COL5A1):c.2151T>C (p.Pro717=)
|
|
|
NM_000093.5(COL5A1):c.2154C>T (p.Gly718=)
|
rs201785573
|
|
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser)
|
rs1564446104
|
|
NM_000093.5(COL5A1):c.2159C>T (p.Pro720Leu)
|
|
|
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
|
rs863223469
|
|
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)
|
rs863223469
|
|
NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu)
|
|
|
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter)
|
rs1564446117
|
|
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
|
|
|
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
|
|
|
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=)
|
rs150993138
|
|
NM_000093.5(COL5A1):c.2184C>T (p.Ala728=)
|
rs150993138
|
|
NM_000093.5(COL5A1):c.2187+20G>A
|
|
|
NM_000093.5(COL5A1):c.2187+4A>G
|
rs919497204
|
|
NM_000093.5(COL5A1):c.2187+6T>C
|
rs1836698236
|
|
NM_000093.5(COL5A1):c.2188-11C>A
|
|
|
NM_000093.5(COL5A1):c.2188-15C>G
|
rs1308708773
|
|
NM_000093.5(COL5A1):c.2188-15_2188-14del
|
rs2132729217
|
|
NM_000093.5(COL5A1):c.2188-6T>G
|
|
|
NM_000093.5(COL5A1):c.2188-9C>T
|
|
|
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=)
|
|
|
NM_000093.5(COL5A1):c.2208T>A (p.Gly736=)
|
rs2132729303
|
|
NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr)
|
rs2132729311
|
|
NM_000093.5(COL5A1):c.220G>A (p.Ala74Thr)
|
|
|
NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)
|
|
|
NM_000093.5(COL5A1):c.2232+17T>G
|
|
|
NM_000093.5(COL5A1):c.2232+20G>A
|
rs2132729412
|
|
NM_000093.5(COL5A1):c.2232+4G>C
|
rs1060502257
|
|
NM_000093.5(COL5A1):c.2232+7G>A
|
rs2132729384
|
|
NM_000093.5(COL5A1):c.2232+8G>A
|
|
|
NM_000093.5(COL5A1):c.2233-11G>A
|
|
|
NM_000093.5(COL5A1):c.2233-13T>G
|
|
|
NM_000093.5(COL5A1):c.2233-15T>C
|
|
|
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
|
|
|
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.2277C>T (p.Asp759=)
|
|
|
NM_000093.5(COL5A1):c.2284C>A (p.Pro762Thr)
|
|
|
NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln)
|
|
|
NM_000093.5(COL5A1):c.2286+8G>A
|
|
|
NM_000093.5(COL5A1):c.2287-11T>C
|
|
|
NM_000093.5(COL5A1):c.2287-12C>T
|
|
|
NM_000093.5(COL5A1):c.2287-7G>C
|
|
|
NM_000093.5(COL5A1):c.228_229del (p.Arg76fs)
|
rs1060502242
|
|
NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg)
|
|
|
NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg)
|
rs1554797269
|
|
NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
|
|
|
NM_000093.5(COL5A1):c.2316A>G (p.Gly772=)
|
|
|
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+12C>T
|
|
|
NM_000093.5(COL5A1):c.2331+4G>C
|
rs1588532335
|
|
NM_000093.5(COL5A1):c.2331+4_2331+5dup
|
|
|
NM_000093.5(COL5A1):c.2331+7G>C
|
rs2132742244
|
|
NM_000093.5(COL5A1):c.2331G>A (p.Gln777=)
|
rs1588532322
|
|
NM_000093.5(COL5A1):c.2332-14C>G
|
|
|
NM_000093.5(COL5A1):c.2332-20C>T
|
rs1588534559
|
|
NM_000093.5(COL5A1):c.2332-3del
|
rs2132747868
|
|
NM_000093.5(COL5A1):c.2332-5T>G
|
rs2132747878
|
|
NM_000093.5(COL5A1):c.2332-9T>G
|
rs1554797620
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
NM_000093.5(COL5A1):c.2334T>C (p.Gly778=)
|
|
|
NM_000093.5(COL5A1):c.2346C>T (p.Pro782=)
|
|
|
NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala)
|
|
|
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)
|
rs121912933
|
|
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+13C>A
|
|
|
NM_000093.5(COL5A1):c.2385+19A>G
|
|
|
NM_000093.5(COL5A1):c.2385+3G>A
|
|
|
NM_000093.5(COL5A1):c.2386-10A>C
|
rs2132759970
|
|
NM_000093.5(COL5A1):c.2386-3C>G
|
rs1564453831
|
|
NM_000093.5(COL5A1):c.2386-6G>T
|
|
|
NM_000093.5(COL5A1):c.2386-8C>A
|
rs1588539610
|
|
NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp)
|
|
|
NM_000093.5(COL5A1):c.2394T>C (p.Asp798=)
|
rs2132760049
|
|
NM_000093.5(COL5A1):c.2406T>G (p.Gly802=)
|
|
|
NM_000093.5(COL5A1):c.2409G>A (p.Leu803=)
|
rs2132760095
|
|
NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)
|
|
|
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter)
|
rs1032017865
|
|
NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly)
|
|
|
NM_000093.5(COL5A1):c.2429_2430+26del
|
|
|
NM_000093.5(COL5A1):c.2430+11C>T
|
|
|
NM_000093.5(COL5A1):c.2430+16C>T
|
rs530385215
|
|
NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT
|
|
|
NM_000093.5(COL5A1):c.2430+1G>A
|
rs1060502248
|
|
NM_000093.5(COL5A1):c.2430+1G>C
|
|
|
NM_000093.5(COL5A1):c.2430+20_2430+21inv
|
|
|
NM_000093.5(COL5A1):c.2430+5G>T
|
|
|
NM_000093.5(COL5A1):c.2431-13G>A
|
|
|
NM_000093.5(COL5A1):c.2431-13G>T
|
|
|
NM_000093.5(COL5A1):c.2431-20C>T
|
|
|
NM_000093.5(COL5A1):c.2431-7T>C
|
rs1060504531
|
|
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)
|
rs1554798918
|
|
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.2448T>G (p.Pro816=)
|
|
|
NM_000093.5(COL5A1):c.2451G>T (p.Gly817=)
|
rs1554798928
|
|
NM_000093.5(COL5A1):c.2463C>T (p.Asp821=)
|
rs1588542906
|
|
NM_000093.5(COL5A1):c.246G>T (p.Gln82His)
|
rs777607116
|
|
NM_000093.5(COL5A1):c.2478T>C (p.Gly826=)
|
|
|
NM_000093.5(COL5A1):c.2484+14G>A
|
rs371753763
|
|
NM_000093.5(COL5A1):c.2484+1G>T
|
rs1564455577
|
|
NM_000093.5(COL5A1):c.2485-14T>C
|
|
|
NM_000093.5(COL5A1):c.2485-18_2485-16del
|
|
|
NM_000093.5(COL5A1):c.2487G>A (p.Gly829=)
|
|
|
NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly)
|
|
|
NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser)
|
|
|
NM_000093.5(COL5A1):c.2496C>G (p.Gly832=)
|
|
|
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.2535A>G (p.Pro845=)
|
|
|
NM_000093.5(COL5A1):c.2544C>A (p.Arg848=)
|
rs201556585
|
|
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=)
|
rs201556585
|
|
NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg)
|
|
|
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
|
rs1837406273
|
|
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.2558G>A (p.Gly853Asp)
|
|
|
NM_000093.5(COL5A1):c.2559T>C (p.Gly853=)
|
rs1588545978
|
|
NM_000093.5(COL5A1):c.2563C>T (p.Pro855Ser)
|
|
|
NM_000093.5(COL5A1):c.2564C>A (p.Pro855His)
|
|
|
NM_000093.5(COL5A1):c.2565C>T (p.Pro855=)
|
|
|
NM_000093.5(COL5A1):c.2565del (p.Gly856fs)
|
rs1564457102
|
|
NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser)
|
rs1254955559
|
|
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg)
|
|
|
NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del)
|
rs2132551178
|
|
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=)
|
|
|
NM_000093.5(COL5A1):c.2592+16C>G
|
rs145429817
|
|
NM_000093.5(COL5A1):c.2592+16C>T
|
rs145429817
|
|
NM_000093.5(COL5A1):c.2592+20C>A
|
|
|
NM_000093.5(COL5A1):c.2593-10C>G
|
|
|
NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg)
|
|
|
NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr)
|
|
|
NM_000093.5(COL5A1):c.2646+13C>T
|
|
|
NM_000093.5(COL5A1):c.2646+30_2646+93del
|
|
|
NM_000093.5(COL5A1):c.2647-12A>T
|
|
|
NM_000093.5(COL5A1):c.2647-16T>G
|
|
|
NM_000093.5(COL5A1):c.2647-3C>G
|
rs746511717
|
|
NM_000093.5(COL5A1):c.2647-3C>T
|
|
|
NM_000093.5(COL5A1):c.2647-9C>G
|
rs757930358
|
|
NM_000093.5(COL5A1):c.2647-9C>T
|
|
|
NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)
|
|
|
NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu)
|
|
|
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
|
rs1833261804
|
|
NM_000093.5(COL5A1):c.2660del (p.Phe887fs)
|
rs1588551159
|
|
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.2676C>A (p.Gly892=)
|
rs143161140
|
|
NM_000093.5(COL5A1):c.2676C>T (p.Gly892=)
|
rs143161140
|
|
NM_000093.5(COL5A1):c.2688G>A (p.Glu896=)
|
|
|
NM_000093.5(COL5A1):c.268C>T (p.Leu90=)
|
|
|
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.2700+12C>T
|
rs752367004
|
|
NM_000093.5(COL5A1):c.2700+16C>A
|
|
|
NM_000093.5(COL5A1):c.2700+18C>T
|
|
|
NM_000093.5(COL5A1):c.2700+19C>G
|
|
|
NM_000093.5(COL5A1):c.2700+19dup
|
|
|
NM_000093.5(COL5A1):c.2700+20T>G
|
|
|
NM_000093.5(COL5A1):c.2700+2T>C
|
rs1588551226
|
|
NM_000093.5(COL5A1):c.2701-10C>T
|
|
|
NM_000093.5(COL5A1):c.2701-11T>C
|
|
|
NM_000093.5(COL5A1):c.2701-15dup
|
|
|
NM_000093.5(COL5A1):c.2701-1G>A
|
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
NM_000093.5(COL5A1):c.2703G>C (p.Gly901=)
|
|
|
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.2724G>C (p.Pro908=)
|
rs41310207
|
|
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs)
|
rs2132802457
|
|
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter)
|
rs863223478
|
|
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln)
|
rs1437668038
|
|
NM_000093.5(COL5A1):c.273C>T (p.Tyr91=)
|
rs1341789008
|
|
NM_000093.5(COL5A1):c.2745+7A>G
|
rs1588558338
|
|
NM_000093.5(COL5A1):c.2745+9C>T
|
rs1837850960
|
|
NM_000093.5(COL5A1):c.2746-11C>G
|
|
|
NM_000093.5(COL5A1):c.2746-11C>T
|
|
|
NM_000093.5(COL5A1):c.2746-12C>A
|
|
|
NM_000093.5(COL5A1):c.2746-12C>T
|
|
|
NM_000093.5(COL5A1):c.2746-15C>T
|
rs2132802979
|
|
NM_000093.5(COL5A1):c.2746-19T>G
|
|
|
NM_000093.5(COL5A1):c.2746-6G>T
|
|
|
NM_000093.5(COL5A1):c.2746-8C>T
|
|
|
NM_000093.5(COL5A1):c.2754G>A (p.Arg918=)
|
rs776715400
|
|
NM_000093.5(COL5A1):c.277+10G>A
|
|
|
NM_000093.5(COL5A1):c.277+6T>C
|
|
|
NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr)
|
|
|
NM_000093.5(COL5A1):c.278-13_278-12del
|
|
|
NM_000093.5(COL5A1):c.278-4C>T
|
|
|
NM_000093.5(COL5A1):c.278-9C>G
|
|
|
NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg)
|
|
|
NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly)
|
rs41306397
|
|
NM_000093.5(COL5A1):c.2793C>A (p.Gly931=)
|
|
|
NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg)
|
|
|
NM_000093.5(COL5A1):c.2799+10T>C
|
rs941515036
|
|
NM_000093.5(COL5A1):c.2799+10_2799+19del
|
|
|
NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT
|
|
|
NM_000093.5(COL5A1):c.2799+13C>T
|
rs75668257
|
|
NM_000093.5(COL5A1):c.2799+14C>T
|
rs1837863011
|
|
NM_000093.5(COL5A1):c.2800-13_2800-4del
|
|
|
NM_000093.5(COL5A1):c.2800-15_2800-14del
|
|
|
NM_000093.5(COL5A1):c.2800-18C>A
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2800-19C>A
|
|
|
NM_000093.5(COL5A1):c.2800-19C>G
|
|
|
NM_000093.5(COL5A1):c.2800-19C>T
|
|
|
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg)
|
rs1330022009
|
|
NM_000093.5(COL5A1):c.2811A>G (p.Gly937=)
|
|
|
NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser)
|
|
|
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu)
|
rs756440511
|
|
NM_000093.5(COL5A1):c.2841A>G (p.Glu947=)
|
|
|
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp)
|
rs1030105888
|
|
NM_000093.5(COL5A1):c.2844+20G>C
|
|
|
NM_000093.5(COL5A1):c.2844+20G>T
|
|
|
NM_000093.5(COL5A1):c.2844+3A>G
|
rs2132806641
|
|
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=)
|
rs1421835224
|
|
NM_000093.5(COL5A1):c.2845-13T>C
|
|
|
NM_000093.5(COL5A1):c.2845-17C>T
|
|
|
NM_000093.5(COL5A1):c.2845-18G>A
|
|
|
NM_000093.5(COL5A1):c.2845-19G>A
|
|
|
NM_000093.5(COL5A1):c.2851A>C (p.Asn951His)
|
rs1588560410
|
|
NM_000093.5(COL5A1):c.2853T>C (p.Asn951=)
|
|
|
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.2895C>T (p.Pro965=)
|
|
|
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)
|
rs1179967153
|
|
NM_000093.5(COL5A1):c.2898+10G>T
|
|
|
NM_000093.5(COL5A1):c.2898+16C>G
|
|
|
NM_000093.5(COL5A1):c.2898+18T>C
|
|
|
NM_000093.5(COL5A1):c.2898+19G>C
|
|
|
NM_000093.5(COL5A1):c.2898+19G>T
|
|
|
NM_000093.5(COL5A1):c.2899-12T>C
|
|
|
NM_000093.5(COL5A1):c.2899-19C>T
|
|
|
NM_000093.5(COL5A1):c.2899-20T>C
|
|
|
NM_000093.5(COL5A1):c.2899-6C>A
|
|
|
NM_000093.5(COL5A1):c.2899-7T>C
|
|
|
NM_000093.5(COL5A1):c.2899-7dup
|
|
|
NM_000093.5(COL5A1):c.2902C>G (p.Pro968Ala)
|
rs1564466152
|
|
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)
|
rs759627305
|
|
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
|
|
|
NM_000093.5(COL5A1):c.291C>T (p.Pro97=)
|
|
|
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
|
|
|
NM_000093.5(COL5A1):c.2929C>G (p.His977Asp)
|
|
|
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr)
|
|
|
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.2952+10_2952+11delinsAT
|
|
|
NM_000093.5(COL5A1):c.2952+16del
|
|
|
NM_000093.5(COL5A1):c.2952+1G>C
|
|
|
NM_000093.5(COL5A1):c.2952+20G>A
|
|
|
NM_000093.5(COL5A1):c.2952+2_2952+3del
|
rs1588562135
|
|
NM_000093.5(COL5A1):c.2952T>C (p.Thr984=)
|
|
|
NM_000093.5(COL5A1):c.2953-10C>T
|
|
|
NM_000093.5(COL5A1):c.2953-14CT[3]
|
|
|
NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly)
|
rs2132569560
|
|
NM_000093.5(COL5A1):c.2970C>G (p.Thr990=)
|
rs548678914
|
|
NM_000093.5(COL5A1):c.2970C>T (p.Thr990=)
|
|
|
NM_000093.5(COL5A1):c.2975C>T (p.Pro992Leu)
|
|
|
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs)
|
rs1588448655
|
|
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
|
|
|
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.2984C>T (p.Pro995Leu)
|
|
|
NM_000093.5(COL5A1):c.2986C>A (p.Pro996Thr)
|
|
|
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.2988C>A (p.Pro996=)
|
rs374409202
|
|
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=)
|
rs374409202
|
|
NM_000093.5(COL5A1):c.2988del (p.Gly997fs)
|
rs764693725
|
|
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs)
|
rs764693725
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
|
NM_000093.5(COL5A1):c.2997C>G (p.Val999=)
|
|
|
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
|
rs765082093
|
|
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
|
|
|
NM_000093.5(COL5A1):c.3006+1G>A
|
|
|
NM_000093.5(COL5A1):c.3006+5G>A
|
|
|
NM_000093.5(COL5A1):c.3006+8C>A
|
rs1386029156
|
|
NM_000093.5(COL5A1):c.3007-15T>C
|
|
|
NM_000093.5(COL5A1):c.3007-17A>G
|
|
|
NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG
|
|
|
NM_000093.5(COL5A1):c.3007-7C>T
|
|
|
NM_000093.5(COL5A1):c.3015G>T (p.Thr1005=)
|
rs751265351
|
|
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro)
|
rs1554781476
|
|
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val)
|
|
|
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys)
|
rs1060502249
|
|
NM_000093.5(COL5A1):c.3045C>T (p.Gly1015=)
|
|
|
NM_000093.5(COL5A1):c.3054G>T (p.Gly1018=)
|
rs369163868
|
|
NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr)
|
|
|
NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr)
|
rs1838166559
|
|
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)
|
rs863223473
|
|
NM_000093.5(COL5A1):c.3084T>C (p.Leu1028=)
|
rs2132822335
|
|
NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser)
|
|
|
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
|
|
|
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del)
|
rs863223476
|
|
NM_000093.5(COL5A1):c.3114+10T>C
|
rs1057523401
|
|
NM_000093.5(COL5A1):c.3114+1G>A
|
rs1838169083
|
|
NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=)
|
|
|
NM_000093.5(COL5A1):c.3115-10_3115-9del
|
|
|
NM_000093.5(COL5A1):c.3115-12C>T
|
|
|
NM_000093.5(COL5A1):c.3115-4T>G
|
|
|
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala)
|
rs751792216
|
|
NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val)
|
rs2132827065
|
|
NM_000093.5(COL5A1):c.3132A>G (p.Ala1044=)
|
rs2132827122
|
|
NM_000093.5(COL5A1):c.315T>C (p.Thr105=)
|
rs1232024630
|
|
NM_000093.5(COL5A1):c.3162A>T (p.Gly1054=)
|
rs2132827198
|
|
NM_000093.5(COL5A1):c.3163T>C (p.Leu1055=)
|
|
|
NM_000093.5(COL5A1):c.3165A>G (p.Leu1055=)
|
rs1588569724
|
|
NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp)
|
rs1554803568
|
|
NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=)
|
rs943030077
|
|
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter)
|
rs387906606
|
|
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.3189G>A (p.Gly1063=)
|
|
|
NM_000093.5(COL5A1):c.318G>A (p.Val106=)
|
rs372181142
|
|
NM_000093.5(COL5A1):c.3194C>T (p.Pro1065Leu)
|
rs2132827329
|
|
NM_000093.5(COL5A1):c.3204+18C>T
|
|
|
NM_000093.5(COL5A1):c.3204+19G>A
|
|
|
NM_000093.5(COL5A1):c.3205-12A>T
|
|
|
NM_000093.5(COL5A1):c.3205-18C>A
|
rs199557977
|
|
NM_000093.5(COL5A1):c.3205-1G>C
|
|
|
NM_000093.5(COL5A1):c.3205-20A>G
|
rs1198283460
|
|
NM_000093.5(COL5A1):c.3205-5T>C
|
|
|
NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val)
|
rs2132827686
|
|
NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe)
|
|
|
NM_000093.5(COL5A1):c.321del (p.Ala108fs)
|
rs2132569651
|
|
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)
|
|
|
NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu)
|
rs1554803631
|
|
NM_000093.5(COL5A1):c.3234G>C (p.Gly1078=)
|
|
|
NM_000093.5(COL5A1):c.3236C>A (p.Pro1079His)
|
|
|
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu)
|
rs863223447
|
|
NM_000093.5(COL5A1):c.3255T>C (p.Pro1085=)
|
|
|
NM_000093.5(COL5A1):c.3258+13C>G
|
|
|
NM_000093.5(COL5A1):c.3258+20C>T
|
|
|
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
|
|
|
NM_000093.5(COL5A1):c.3259-11C>G
|
|
|
NM_000093.5(COL5A1):c.3259-11C>T
|
|
|
NM_000093.5(COL5A1):c.3259-12G>T
|
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.3261A>T (p.Gly1087=)
|
|
|
NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys)
|
rs1383949759
|
|
NM_000093.5(COL5A1):c.3270G>A (p.Gly1090=)
|
|
|
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
|
|
|
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.3297del (p.Ile1101fs)
|
rs1838291478
|
|
NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile)
|
|
|
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=)
|
rs760754491
|
|
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs)
|
rs1564471440
|
|
NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser)
|
rs1838292124
|
|
NM_000093.5(COL5A1):c.3312A>G (p.Pro1104=)
|
rs1554803839
|
|
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
|
|
|
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys)
|
rs1838292501
|
|
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
|
|
|
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=)
|
|
|
NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser)
|
rs1204892518
|
|
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu)
|
|
|
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.3354G>A (p.Glu1118=)
|
rs2132830826
|
|
NM_000093.5(COL5A1):c.3360G>T (p.Gly1120=)
|
|
|
NM_000093.5(COL5A1):c.3366+12C>A
|
|
|
NM_000093.5(COL5A1):c.3366+20G>T
|
|
|
NM_000093.5(COL5A1):c.3367-11G>C
|
|
|
NM_000093.5(COL5A1):c.3367-13C>G
|
|
|
NM_000093.5(COL5A1):c.3367-14_3367-12del
|
rs750002182
|
|
NM_000093.5(COL5A1):c.3367-15T>G
|
|
|
NM_000093.5(COL5A1):c.3367-16C>T
|
|
|
NM_000093.5(COL5A1):c.3367-4C>T
|
rs1411238332
|
|
NM_000093.5(COL5A1):c.3367-7T>A
|
|
|
NM_000093.5(COL5A1):c.3373A>G (p.Lys1125Glu)
|
|
|
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter)
|
rs2132569692
|
|
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys)
|
rs1838417062
|
|
NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg)
|
|
|
NM_000093.5(COL5A1):c.3384A>G (p.Gln1128=)
|
|
|
NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser)
|
|
|
NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val)
|
|
|
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)
|
|
|
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)
|
rs886042045
|
|
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.3414G>A (p.Gly1138=)
|
|
|
NM_000093.5(COL5A1):c.3421G>C (p.Gly1141Arg)
|
rs1269224473
|
|
NM_000093.5(COL5A1):c.3426C>T (p.Leu1142=)
|
|
|
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
|
rs750169623
|
|
NM_000093.5(COL5A1):c.342C>G (p.Ala114=)
|
rs2132569714
|
|
NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile)
|
rs1564396163
|
|
NM_000093.5(COL5A1):c.3442C>T (p.Pro1148Ser)
|
|
|
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
|
|
|
NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu)
|
|
|
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser)
|
rs1424921275
|
|
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs)
|
rs2132838808
|
|
NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg)
|
|
|
NM_000093.5(COL5A1):c.3468A>C (p.Gly1156=)
|
rs1296980747
|
|
NM_000093.5(COL5A1):c.346C>T (p.Leu116=)
|
|
|
NM_000093.5(COL5A1):c.3474+20A>G
|
|
|
NM_000093.5(COL5A1):c.3474+5G>A
|
|
|
NM_000093.5(COL5A1):c.3474+6G>A
|
|
|
NM_000093.5(COL5A1):c.3475-4C>T
|
|
|
NM_000093.5(COL5A1):c.3475-7C>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.3487G>A (p.Glu1163Lys)
|
|
|
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
|
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
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.3514dup (p.Asp1172fs)
|
rs2132841152
|
|
NM_000093.5(COL5A1):c.3528+13A>G
|
|
|
NM_000093.5(COL5A1):c.3528+14C>G
|
|
|
NM_000093.5(COL5A1):c.3528+5G>A
|
|
|
NM_000093.5(COL5A1):c.3529-16G>C
|
|
|
NM_000093.5(COL5A1):c.3529-1G>T
|
rs1588577214
|
|
NM_000093.5(COL5A1):c.3529-8C>T
|
|
|
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser)
|
|
|
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys)
|
rs1554781494
|
|
NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=)
|
|
|
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)
|
|
|
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val)
|
rs1588577285
|
|
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)
|
rs766961124
|
|
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
|
|
|
NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His)
|
|
|
NM_000093.5(COL5A1):c.3576C>T (p.Gly1192=)
|
|
|
NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu)
|
rs2132844501
|
|
NM_000093.5(COL5A1):c.3582+7A>G
|
|
|
NM_000093.5(COL5A1):c.3582+9C>T
|
rs1838518099
|
|
NM_000093.5(COL5A1):c.3583-17C>T
|
|
|
NM_000093.5(COL5A1):c.3583-33_3583-15del
|
|
|
NM_000093.5(COL5A1):c.3583-6dup
|
rs773032514
|
|
NM_000093.5(COL5A1):c.3583-7C>G
|
rs1330304599
|
|
NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp)
|
rs1060502247
|
|
NM_000093.5(COL5A1):c.3597G>A (p.Glu1199=)
|
rs2132844895
|
|
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.3609G>C (p.Arg1203=)
|
rs369518896
|
|
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter)
|
rs2132844990
|
|
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.3631C>T (p.Gln1211Ter)
|
rs1307084213
|
|
NM_000093.5(COL5A1):c.3637G>A (p.Gly1213Ser)
|
|
|
NM_000093.5(COL5A1):c.3643G>A (p.Glu1215Lys)
|
rs2132845104
|
|
NM_000093.5(COL5A1):c.3648T>C (p.Gly1216=)
|
rs1588577626
|
|
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.3671dup (p.Gly1225fs)
|
rs2132845192
|
|
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs)
|
rs1564475090
|
|
NM_000093.5(COL5A1):c.3690+10G>A
|
|
|
NM_000093.5(COL5A1):c.3690+12G>A
|
rs2132845317
|
|
NM_000093.5(COL5A1):c.3690+2dup
|
rs2132845264
|
|
NM_000093.5(COL5A1):c.3690+8T>G
|
|
|
NM_000093.5(COL5A1):c.3690+8_3690+9del
|
|
|
NM_000093.5(COL5A1):c.3691-13T>G
|
|
|
NM_000093.5(COL5A1):c.3691-3C>A
|
|
|
NM_000093.5(COL5A1):c.3691-6T>C
|
rs1187330689
|
|
NM_000093.5(COL5A1):c.3691-8del
|
rs2132847274
|
|
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu)
|
rs886039091
|
|
NM_000093.5(COL5A1):c.36G>A (p.Ala12=)
|
rs1029930975
|
|
NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser)
|
|
|
NM_000093.5(COL5A1):c.3711C>A (p.Gly1237=)
|
|
|
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=)
|
rs763583510
|
|
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=)
|
|
|
NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val)
|
rs767843442
|
|
NM_000093.5(COL5A1):c.3744+11C>T
|
|
|
NM_000093.5(COL5A1):c.3744+16A>G
|
|
|
NM_000093.5(COL5A1):c.3744+6T>A
|
|
|
NM_000093.5(COL5A1):c.3744+9G>T
|
|
|
NM_000093.5(COL5A1):c.3745-15T>A
|
|
|
NM_000093.5(COL5A1):c.3745-4C>G
|
|
|
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala)
|
rs533597740
|
|
NM_000093.5(COL5A1):c.3747C>G (p.Gly1249=)
|
|
|
NM_000093.5(COL5A1):c.3747C>T (p.Gly1249=)
|
|
|
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser)
|
rs1833612402
|
|
NM_000093.5(COL5A1):c.3752C>T (p.Pro1251Leu)
|
|
|
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser)
|
|
|
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)
|
rs1554805125
|
|
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter)
|
rs748870349
|
|
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
|
|
|
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg)
|
rs772445337
|
|
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr)
|
rs1211791316
|
|
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
|
|
|
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter)
|
rs1554805142
|
|
NM_000093.5(COL5A1):c.3807A>G (p.Gln1269=)
|
|
|
NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser)
|
|
|
NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg)
|
rs771146636
|
|
NM_000093.5(COL5A1):c.3813C>T (p.Pro1271=)
|
|
|
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.3833_3846del (p.Pro1278fs)
|
rs2132848313
|
|
NM_000093.5(COL5A1):c.3834T>C (p.Pro1278=)
|
|
|
NM_000093.5(COL5A1):c.3847G>A (p.Glu1283Lys)
|
|
|
NM_000093.5(COL5A1):c.3852+4A>T
|
|
|
NM_000093.5(COL5A1):c.3853-14C>A
|
|
|
NM_000093.5(COL5A1):c.3853-19A>G
|
|
|
NM_000093.5(COL5A1):c.3853-20C>T
|
|
|
NM_000093.5(COL5A1):c.3853-33_3853-17del
|
|
|
NM_000093.5(COL5A1):c.3853-8C>T
|
|
|
NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr)
|
|
|
NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg)
|
rs2132569874
|
|
NM_000093.5(COL5A1):c.3869C>G (p.Ala1290Gly)
|
|
|
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.3888G>T (p.Pro1296=)
|
rs375631252
|
|
NM_000093.5(COL5A1):c.388C>G (p.Leu130Val)
|
|
|
NM_000093.5(COL5A1):c.3896G>A (p.Gly1299Asp)
|
|
|
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+15G>A
|
rs370937109
|
|
NM_000093.5(COL5A1):c.3906+15G>C
|
rs370937109
|
|
NM_000093.5(COL5A1):c.3906+8A>G
|
|
|
NM_000093.5(COL5A1):c.3907-15G>C
|
|
|
NM_000093.5(COL5A1):c.3907-18C>G
|
rs1838675880
|
|
NM_000093.5(COL5A1):c.3907-20C>T
|
|
|
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.3936C>A (p.Gly1312=)
|
rs367804791
|
|
NM_000093.5(COL5A1):c.3939G>A (p.Glu1313=)
|
rs886063676
|
|
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.3957T>C (p.Ala1319=)
|
|
|
NM_000093.5(COL5A1):c.3958G>T (p.Ala1320Ser)
|
|
|
NM_000093.5(COL5A1):c.3960C>G (p.Ala1320=)
|
|
|
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr)
|
|
|
NM_000093.5(COL5A1):c.3967C>T (p.Pro1323Ser)
|
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu)
|
|
|
NM_000093.5(COL5A1):c.3984T>G (p.Pro1328=)
|
|
|
NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser)
|
rs1462221629
|
|
NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=)
|
rs770802769
|
|
NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg)
|
rs1060502254
|
|
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=)
|
rs1554805651
|
|
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
|
|
|
NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser)
|
rs759198874
|
|
NM_000093.5(COL5A1):c.4005A>G (p.Lys1335=)
|
rs2132853979
|
|
NM_000093.5(COL5A1):c.4014+10C>T
|
rs1434635162
|
|
NM_000093.5(COL5A1):c.4014+12A>G
|
|
|
NM_000093.5(COL5A1):c.4015-13T>G
|
|
|
NM_000093.5(COL5A1):c.4015-18_4015-15del
|
rs1360635637
|
|
NM_000093.5(COL5A1):c.4015-1G>A
|
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4020A>C (p.Pro1340=)
|
rs776564144
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
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.4045C>A (p.Pro1349Thr)
|
|
|
NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr)
|
|
|
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala)
|
rs762699995
|
|
NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu)
|
rs1255890421
|
|
NM_000093.5(COL5A1):c.404C>T (p.Ser135Phe)
|
rs201997623
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
|
|
|
NM_000093.5(COL5A1):c.4053A>C (p.Gly1351=)
|
|
|
NM_000093.5(COL5A1):c.4058C>T (p.Pro1353Leu)
|
|
|
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu)
|
rs2132855475
|
|
NM_000093.5(COL5A1):c.4068+9T>A
|
rs2132855525
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4069-17C>T
|
|
|
NM_000093.5(COL5A1):c.4069-1G>T
|
rs1564478485
|
|
NM_000093.5(COL5A1):c.4069-6C>T
|
rs756079712
|
|
NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro)
|
|
|
NM_000093.5(COL5A1):c.4076A>G (p.Asp1359Gly)
|
|
|
NM_000093.5(COL5A1):c.4081C>A (p.Pro1361Thr)
|
|
|
NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser)
|
|
|
NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu)
|
|
|
NM_000093.5(COL5A1):c.4083C>A (p.Pro1361=)
|
|
|
NM_000093.5(COL5A1):c.4083C>G (p.Pro1361=)
|
rs868648962
|
|
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser)
|
rs2132856128
|
|
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs)
|
rs2132856138
|
|
NM_000093.5(COL5A1):c.4095A>G (p.Lys1365=)
|
|
|
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.4114G>A (p.Gly1372Arg)
|
rs1838729952
|
|
NM_000093.5(COL5A1):c.4122+12A>G
|
|
|
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.4123-10C>T
|
rs1057524402
|
|
NM_000093.5(COL5A1):c.4123-11C>T
|
|
|
NM_000093.5(COL5A1):c.4123-17C>A
|
|
|
NM_000093.5(COL5A1):c.4123-4C>T
|
|
|
NM_000093.5(COL5A1):c.4123-6T>A
|
|
|
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs)
|
rs1131691820
|
|
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.4158G>A (p.Ser1386=)
|
rs1383677988
|
|
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
NM_000093.5(COL5A1):c.4176+11C>G
|
|
|
NM_000093.5(COL5A1):c.4176+17G>C
|
|
|
NM_000093.5(COL5A1):c.4176+20C>T
|
rs2132858882
|
|
NM_000093.5(COL5A1):c.4177-11G>C
|
|
|
NM_000093.5(COL5A1):c.4177-16C>G
|
|
|
NM_000093.5(COL5A1):c.4177-18T>C
|
rs922274540
|
|
NM_000093.5(COL5A1):c.4177-8T>G
|
rs1838818747
|
|
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.4190C>G (p.Pro1397Arg)
|
|
|
NM_000093.5(COL5A1):c.4191C>T (p.Pro1397=)
|
|
|
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.4200C>T (p.Pro1400=)
|
rs752468183
|
|
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs)
|
rs1060502255
|
|
NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His)
|
rs1554806295
|
|
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
|
|
|
NM_000093.5(COL5A1):c.4230+13G>A
|
|
|
NM_000093.5(COL5A1):c.4230+5C>A
|
|
|
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
|
|
|
NM_000093.5(COL5A1):c.4230+7T>C
|
|
|
NM_000093.5(COL5A1):c.4231-11C>T
|
|
|
NM_000093.5(COL5A1):c.4231-12G>C
|
|
|
NM_000093.5(COL5A1):c.4231-16C>T
|
rs1057522679
|
|
NM_000093.5(COL5A1):c.4231-2A>G
|
|
|
NM_000093.5(COL5A1):c.4231-3C>T
|
|
|
NM_000093.5(COL5A1):c.4231-7C>G
|
|
|
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.4251C>T (p.Gly1417=)
|
|
|
NM_000093.5(COL5A1):c.4252C>T (p.Pro1418Ser)
|
rs796151769
|
|
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.4266_4285del (p.Ile1425fs)
|
|
|
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe)
|
|
|
NM_000093.5(COL5A1):c.4275C>G (p.Ile1425Met)
|
rs767372665
|
|
NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu)
|
|
|
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs)
|
rs2132864123
|
|
NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu)
|
|
|
NM_000093.5(COL5A1):c.4287G>A (p.Gly1429=)
|
rs936839849
|
|
NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=)
|
rs936839849
|
|
NM_000093.5(COL5A1):c.4289C>A (p.Ala1430Asp)
|
|
|
NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu)
|
rs1554806543
|
|
NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe)
|
|
|
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
|
rs2132864295
|
|
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met)
|
rs561761305
|
|
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
|
rs864622040
|
|
NM_000093.5(COL5A1):c.4326C>A (p.Ile1442=)
|
rs942145911
|
|
NM_000093.5(COL5A1):c.432G>A (p.Thr144=)
|
rs528963362
|
|
NM_000093.5(COL5A1):c.4338+5G>A
|
rs1352729728
|
|
NM_000093.5(COL5A1):c.4338+7A>G
|
|
|
NM_000093.5(COL5A1):c.4338+9G>A
|
|
|
NM_000093.5(COL5A1):c.4339-15G>A
|
|
|
NM_000093.5(COL5A1):c.4339-3C>G
|
rs545993723
|
|
NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg)
|
|
|
NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=)
|
rs1300586902
|
|
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>G (p.Gly1456=)
|
|
|
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=)
|
rs1213186421
|
|
NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser)
|
|
|
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
|
|
|
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn)
|
rs577270517
|
|
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu)
|
rs201335857
|
|
NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser)
|
rs773125713
|
|
NM_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala)
|
|
|
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs)
|
rs2132864817
|
|
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs)
|
rs2132864836
|
|
NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala)
|
|
|
NM_000093.5(COL5A1):c.4389del (p.Met1464fs)
|
rs2132864849
|
|
NM_000093.5(COL5A1):c.4392+10A>G
|
|
|
NM_000093.5(COL5A1):c.4392+11T>C
|
|
|
NM_000093.5(COL5A1):c.4392+14C>T
|
|
|
NM_000093.5(COL5A1):c.4392+6_4392+24dup
|
|
|
NM_000093.5(COL5A1):c.4393-13C>A
|
|
|
NM_000093.5(COL5A1):c.4393-15del
|
|
|
NM_000093.5(COL5A1):c.4393-16C>T
|
|
|
NM_000093.5(COL5A1):c.4393-1G>A
|
|
|
NM_000093.5(COL5A1):c.4393-6C>T
|
rs2132865196
|
|
NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)
|
|
|
NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala)
|
|
|
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
|
|
|
NM_000093.5(COL5A1):c.441T>C (p.Pro147=)
|
rs1833615155
|
|
NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His)
|
rs1554806674
|
|
NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro)
|
|
|
NM_000093.5(COL5A1):c.4446+14C>T
|
rs1564481400
|
|
NM_000093.5(COL5A1):c.4446+9G>C
|
|
|
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly)
|
|
|
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu)
|
rs373089071
|
|
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
|
|
|
NM_000093.5(COL5A1):c.459C>A (p.Pro153=)
|
rs1588448882
|
|
NM_000093.5(COL5A1):c.459C>T (p.Pro153=)
|
rs1588448882
|
|
NM_000093.5(COL5A1):c.45G>A (p.Pro15=)
|
|
|
NM_000093.5(COL5A1):c.463T>C (p.Phe155Leu)
|
|
|
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp)
|
|
|
NM_000093.5(COL5A1):c.474_491+24del
|
|
|
NM_000093.5(COL5A1):c.484G>C (p.Asp162His)
|
rs1564396342
|
|
NM_000093.5(COL5A1):c.491+10C>A
|
rs757598488
|
|
NM_000093.5(COL5A1):c.491+11A>G
|
|
|
NM_000093.5(COL5A1):c.491+20C>T
|
|
|
NM_000093.5(COL5A1):c.491+3A>C
|
rs1554781526
|
|
NM_000093.5(COL5A1):c.491+9G>A
|
rs752150900
|
|
NM_000093.5(COL5A1):c.492-18C>T
|
|
|
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter)
|
rs1588449879
|
|
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
|
|
|
NM_000093.5(COL5A1):c.499A>G (p.Arg167Gly)
|
|
|
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)
|
|
|
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.514G>A (p.Val172Ile)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
NM_000093.5(COL5A1):c.519C>T (p.His173=)
|
|
|
NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser)
|
|
|
NM_000093.5(COL5A1):c.531C>G (p.Val177=)
|
|
|
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
|
|
|
NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg)
|
|
|
NM_000093.5(COL5A1):c.543C>G (p.Leu181=)
|
|
|
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.561C>G (p.Thr187=)
|
|
|
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
|
|
|
NM_000093.5(COL5A1):c.576C>T (p.Asp192=)
|
|
|
NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser)
|
|
|
NM_000093.5(COL5A1):c.58C>T (p.Leu20=)
|
|
|
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.597C>T (p.Ile199=)
|
rs147008954
|
|
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu)
|
rs371351417
|
|
NM_000093.5(COL5A1):c.608G>A (p.Gly203Asp)
|
|
|
NM_000093.5(COL5A1):c.611T>C (p.Ile204Thr)
|
rs773693941
|
|
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
|
|
|
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
|
|
|
NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu)
|
|
|
NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile)
|
|
|
NM_000093.5(COL5A1):c.63C>T (p.Pro21=)
|
|
|
NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys)
|
rs763107415
|
|
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter)
|
rs2132573338
|
|
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu)
|
|
|
NM_000093.5(COL5A1):c.654+14C>T
|
|
|
NM_000093.5(COL5A1):c.655-17C>A
|
|
|
NM_000093.5(COL5A1):c.655-17C>T
|
rs560814216
|
|
NM_000093.5(COL5A1):c.655-1917_690del
|
|
|
NM_000093.5(COL5A1):c.655-20G>T
|
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
NM_000093.5(COL5A1):c.655-9C>G
|
|
|
NM_000093.5(COL5A1):c.655-9_655-7del
|
|
|
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
|
|
|
NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg)
|
rs1554787531
|
|
NM_000093.5(COL5A1):c.669G>A (p.Gln223=)
|
rs1300899218
|
|
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
|
|
|
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
|
|
|
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.708C>A (p.Tyr236Ter)
|
|
|
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>A (p.Cys244Tyr)
|
|
|
NM_000093.5(COL5A1):c.731G>C (p.Cys244Ser)
|
|
|
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg)
|
rs1831316527
|
|
NM_000093.5(COL5A1):c.753C>A (p.Thr251=)
|
rs374813957
|
|
NM_000093.5(COL5A1):c.75G>A (p.Leu25=)
|
rs2132455041
|
|
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
|
rs144844792
|
|
NM_000093.5(COL5A1):c.762G>A (p.Ser254=)
|
rs767928508
|
|
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.780T>C (p.Asp260=)
|
rs1588476059
|
|
NM_000093.5(COL5A1):c.786+11T>C
|
|
|
NM_000093.5(COL5A1):c.786+15G>T
|
|
|
NM_000093.5(COL5A1):c.786+18G>A
|
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
NM_000093.5(COL5A1):c.786+5G>A
|
rs2132632978
|
|
NM_000093.5(COL5A1):c.786+5G>T
|
|
|
NM_000093.5(COL5A1):c.786+8_786+12del
|
rs1564414492
|
|
NM_000093.5(COL5A1):c.787-13A>G
|
|
|
NM_000093.5(COL5A1):c.787-15G>T
|
|
|
NM_000093.5(COL5A1):c.787-16del
|
|
|
NM_000093.5(COL5A1):c.787-8G>A
|
rs780803048
|
|
NM_000093.5(COL5A1):c.787-8G>C
|
rs780803048
|
|
NM_000093.5(COL5A1):c.787-8G>T
|
|
|
NM_000093.5(COL5A1):c.787-9C>T
|
rs751472921
|
|
NM_000093.5(COL5A1):c.792G>A (p.Thr264=)
|
rs757360763
|
|
NM_000093.5(COL5A1):c.792G>T (p.Thr264=)
|
rs757360763
|
|
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.807G>A (p.Glu269=)
|
|
|
NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys)
|
rs1834748686
|
|
NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
|
|
|
NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp)
|
rs1834749472
|
|
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=)
|
|
|
NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys)
|
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly)
|
|
|
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro)
|
|
|
NM_000093.5(COL5A1):c.858A>G (p.Leu286=)
|
|
|
NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu)
|
rs1588477287
|
|
NM_000093.5(COL5A1):c.861G>T (p.Gly287=)
|
|
|
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
|
|
|
NM_000093.5(COL5A1):c.867G>A (p.Glu289=)
|
|
|
NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser)
|
rs754640324
|
|
NM_000093.5(COL5A1):c.873C>A (p.Thr291=)
|
rs1834751406
|
|
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
|
rs1834751333
|
|
NM_000093.5(COL5A1):c.889G>A (p.Val297Met)
|
|
|
NM_000093.5(COL5A1):c.891G>A (p.Val297=)
|
|
|
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter)
|
rs1554787811
|
|
NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr)
|
|
|
NM_000093.5(COL5A1):c.921C>A (p.Pro307=)
|
|
|
NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys)
|
rs770173348
|
|
NM_000093.5(COL5A1):c.924+14G>C
|
|
|
NM_000093.5(COL5A1):c.924+15G>A
|
|
|
NM_000093.5(COL5A1):c.924+16G>C
|
|
|
NM_000093.5(COL5A1):c.924+17G>A
|
|
|
NM_000093.5(COL5A1):c.924+18G>A
|
|
|
NM_000093.5(COL5A1):c.924+8C>G
|
rs2132635461
|
|
NM_000093.5(COL5A1):c.925-11T>C
|
|
|
NM_000093.5(COL5A1):c.925-11T>G
|
|
|
NM_000093.5(COL5A1):c.925-12C>T
|
|
|
NM_000093.5(COL5A1):c.925-2A>C
|
rs2132639011
|
|
NM_000093.5(COL5A1):c.927G>A (p.Glu309=)
|
|
|
NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln)
|
rs1410664123
|
|
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu)
|
|
|
NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala)
|
|
|
NM_000093.5(COL5A1):c.957C>T (p.Pro319=)
|
rs2132639092
|
|
NM_000093.5(COL5A1):c.959T>A (p.Met320Lys)
|
|
|
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
|
|
|
NM_000093.5(COL5A1):c.960G>A (p.Met320Ile)
|
|
|
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu)
|
rs576742644
|
|
NM_000093.5(COL5A1):c.993G>A (p.Glu331=)
|
rs1834830929
|
|
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs)
|
rs1554803622
|
|