NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
|
rs3124299
|
0.34823
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)
|
rs61729545
|
0.06122
|
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.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
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.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.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.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.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
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.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.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.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.597C>G (p.Ile199Met)
|
rs147008954
|
0.00054
|
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00044
|
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.3402C>T (p.Asp1134=)
|
rs138251296
|
0.00037
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
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.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)
|
rs375631252
|
0.00021
|
NM_000093.5(COL5A1):c.999C>T (p.Val333=)
|
rs138702819
|
0.00020
|
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.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.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.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00014
|
NM_000093.5(COL5A1):c.36G>C (p.Ala12=)
|
rs1029930975
|
0.00014
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=)
|
rs200073020
|
0.00014
|
NM_000093.5(COL5A1):c.1476C>T (p.Val492=)
|
rs141093527
|
0.00013
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000093.5(COL5A1):c.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.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)
|
rs374020067
|
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.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.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.2391C>T (p.Ala797=)
|
rs142347159
|
0.00010
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
NM_000093.5(COL5A1):c.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.3870A>G (p.Ala1290=)
|
rs541963919
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
NM_000093.5(COL5A1):c.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.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.-4C>G
|
rs769694875
|
0.00007
|
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.4157C>T (p.Ser1386Leu)
|
rs141605663
|
0.00007
|
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=)
|
rs145363211
|
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.1668A>G (p.Ala556=)
|
rs750022273
|
0.00006
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
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.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.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.3600G>A (p.Pro1200=)
|
rs187345008
|
0.00006
|
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=)
|
rs150591401
|
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.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.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)
|
rs372082908
|
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.2722C>T (p.Pro908Ser)
|
rs144985214
|
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.4239C>T (p.Ala1413=)
|
rs537406193
|
0.00005
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
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.1527C>T (p.Ala509=)
|
rs746510456
|
0.00004
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
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.2398A>G (p.Ile800Val)
|
rs146870918
|
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.4374C>T (p.Asp1458=)
|
rs201335857
|
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.945G>A (p.Thr315=)
|
rs149123775
|
0.00004
|
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys)
|
rs769752636
|
0.00003
|
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)
|
rs762108965
|
0.00003
|
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=)
|
rs373846823
|
0.00003
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.192G>A (p.Thr64=)
|
rs746717050
|
0.00003
|
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=)
|
rs186098435
|
0.00003
|
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)
|
rs575535171
|
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.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=)
|
rs766208976
|
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.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.3912C>T (p.Pro1304=)
|
rs773909152
|
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.603C>T (p.Ile201=)
|
rs747624923
|
0.00003
|
NM_000093.5(COL5A1):c.615C>A (p.Ile205=)
|
rs201286195
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
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.1208A>T (p.Glu403Val)
|
rs752746395
|
0.00002
|
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=)
|
rs745575705
|
0.00002
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)
|
rs375762619
|
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.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=)
|
rs373285312
|
0.00002
|
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=)
|
rs767014646
|
0.00002
|
NM_000093.5(COL5A1):c.2694C>T (p.Gly898=)
|
rs139394549
|
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.3605C>T (p.Pro1202Leu)
|
rs1198718473
|
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.37C>T (p.Leu13Phe)
|
rs762625123
|
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.4131C>T (p.Pro1377=)
|
rs145101509
|
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.1021G>A (p.Val341Met)
|
rs756703956
|
0.00001
|
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=)
|
rs370018361
|
0.00001
|
NM_000093.5(COL5A1):c.1119G>A (p.Gly373=)
|
rs1060504528
|
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.1175C>T (p.Pro392Leu)
|
rs1290737803
|
0.00001
|
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=)
|
rs1272170006
|
0.00001
|
NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=)
|
rs746576822
|
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.1401C>T (p.Ile467=)
|
rs1452745305
|
0.00001
|
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val)
|
rs763650548
|
0.00001
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
NM_000093.5(COL5A1):c.1638G>A (p.Ala546=)
|
rs775508023
|
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.1797G>A (p.Pro599=)
|
rs201463583
|
0.00001
|
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu)
|
rs749007253
|
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.1900G>A (p.Gly634Ser)
|
rs183627101
|
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.2181C>T (p.Gly727=)
|
rs201298716
|
0.00001
|
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=)
|
rs373617798
|
0.00001
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
NM_000093.5(COL5A1):c.2538G>A (p.Lys846=)
|
rs751065864
|
0.00001
|
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His)
|
rs767925708
|
0.00001
|
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=)
|
rs770622608
|
0.00001
|
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=)
|
rs750716466
|
0.00001
|
NM_000093.5(COL5A1):c.2847A>T (p.Gly949=)
|
rs898479012
|
0.00001
|
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser)
|
rs1189111524
|
0.00001
|
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr)
|
rs774095835
|
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.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.3227A>G (p.Asn1076Ser)
|
rs1838252619
|
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.3299C>T (p.Pro1100Leu)
|
rs564375308
|
0.00001
|
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala)
|
rs926426117
|
0.00001
|
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro)
|
rs863223449
|
0.00001
|
NM_000093.5(COL5A1):c.354C>T (p.Ser118=)
|
rs748711211
|
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.3771A>G (p.Arg1257=)
|
rs1042269053
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys)
|
rs376893441
|
0.00001
|
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser)
|
rs370151534
|
0.00001
|
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)
|
rs755495352
|
0.00001
|
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val)
|
rs369740453
|
0.00001
|
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=)
|
rs756096066
|
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.609C>T (p.Gly203=)
|
rs146054551
|
0.00001
|
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)
|
rs1490728700
|
0.00001
|
NM_000093.5(COL5A1):c.762G>T (p.Ser254=)
|
rs767928508
|
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.888C>T (p.Pro296=)
|
rs747624704
|
0.00001
|
NM_000093.5(COL5A1):c.-1C>A
|
|
|
NM_000093.5(COL5A1):c.1014T>C (p.Tyr338=)
|
|
|
NM_000093.5(COL5A1):c.1017C>T (p.Asp339=)
|
|
|
NM_000093.5(COL5A1):c.1024C>T (p.Pro342Ser)
|
rs886039023
|
|
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.105C>T (p.Arg35=)
|
|
|
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
|
|
|
NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp)
|
|
|
NM_000093.5(COL5A1):c.1105G>C (p.Asp369His)
|
rs777935807
|
|
NM_000093.5(COL5A1):c.1122C>G (p.Ala374=)
|
rs758640551
|
|
NM_000093.5(COL5A1):c.1152C>T (p.Ser384=)
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1195G>A (p.Asp399Asn)
|
|
|
NM_000093.5(COL5A1):c.1206G>T (p.Gly402=)
|
|
|
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.1233C>T (p.Asn411=)
|
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])
|
rs745934765
|
|
NM_000093.5(COL5A1):c.1271C>T (p.Thr424Ile)
|
|
|
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=)
|
rs572136244
|
|
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
|
|
|
NM_000093.5(COL5A1):c.1333-3dup
|
rs773903401
|
|
NM_000093.5(COL5A1):c.1359C>G (p.Gly453=)
|
|
|
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=)
|
rs746091599
|
|
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.1464C>T (p.Pro488=)
|
rs1835195730
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
|
|
|
NM_000093.5(COL5A1):c.1515C>G (p.Gly505=)
|
|
|
NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr)
|
rs202069285
|
|
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)
|
rs769010469
|
|
NM_000093.5(COL5A1):c.1626G>A (p.Gln542=)
|
|
|
NM_000093.5(COL5A1):c.1689G>A (p.Pro563=)
|
|
|
NM_000093.5(COL5A1):c.1724C>G (p.Pro575Arg)
|
|
|
NM_000093.5(COL5A1):c.1762G>C (p.Val588Leu)
|
|
|
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.1788G>T (p.Val596=)
|
|
|
NM_000093.5(COL5A1):c.17G>T (p.Arg6Leu)
|
|
|
NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln)
|
|
|
NM_000093.5(COL5A1):c.1826G>T (p.Arg609Leu)
|
|
|
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=)
|
rs781663334
|
|
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.19T>C (p.Trp7Arg)
|
|
|
NM_000093.5(COL5A1):c.2019G>C (p.Gly673=)
|
rs139822656
|
|
NM_000093.5(COL5A1):c.2022G>C (p.Leu674=)
|
rs552160454
|
|
NM_000093.5(COL5A1):c.202T>C (p.Ser68Pro)
|
rs1554780172
|
|
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His)
|
rs1554796087
|
|
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
|
|
|
NM_000093.5(COL5A1):c.2148G>A (p.Glu716=)
|
rs368917234
|
|
NM_000093.5(COL5A1):c.2151T>C (p.Pro717=)
|
|
|
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
|
|
|
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.2233-3T>C
|
|
|
NM_000093.5(COL5A1):c.226A>G (p.Arg76Gly)
|
|
|
NM_000093.5(COL5A1):c.2281C>A (p.Pro761Thr)
|
|
|
NM_000093.5(COL5A1):c.2366C>G (p.Pro789Arg)
|
|
|
NM_000093.5(COL5A1):c.2435A>G (p.Glu812Gly)
|
|
|
NM_000093.5(COL5A1):c.2482C>G (p.Arg828Gly)
|
|
|
NM_000093.5(COL5A1):c.2500C>T (p.Pro834Ser)
|
|
|
NM_000093.5(COL5A1):c.2503G>A (p.Gly835Ser)
|
rs927467876
|
|
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.2551C>T (p.Pro851Ser)
|
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2598A>T (p.Lys866Asn)
|
|
|
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.270G>A (p.Leu90=)
|
|
|
NM_000093.5(COL5A1):c.273C>T (p.Tyr91=)
|
rs1341789008
|
|
NM_000093.5(COL5A1):c.2759A>G (p.Glu920Gly)
|
|
|
NM_000093.5(COL5A1):c.2766C>A (p.Gly922=)
|
|
|
NM_000093.5(COL5A1):c.279G>T (p.Ala93=)
|
|
|
NM_000093.5(COL5A1):c.2820C>T (p.Gly940=)
|
|
|
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp)
|
rs1030105888
|
|
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
|
|
|
NM_000093.5(COL5A1):c.2982C>T (p.Gly994=)
|
|
|
NM_000093.5(COL5A1):c.2987_2988dup (p.Gly997fs)
|
|
|
NM_000093.5(COL5A1):c.2988C>G (p.Pro996=)
|
|
|
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=)
|
rs374409202
|
|
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro)
|
rs1554781476
|
|
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr)
|
rs1554781477
|
|
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)
|
rs863223473
|
|
NM_000093.5(COL5A1):c.3072T>C (p.Gly1024=)
|
|
|
NM_000093.5(COL5A1):c.309A>G (p.Leu103=)
|
|
|
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
|
|
|
NM_000093.5(COL5A1):c.30C>G (p.Arg10=)
|
|
|
NM_000093.5(COL5A1):c.3201A>G (p.Pro1067=)
|
rs773094034
|
|
NM_000093.5(COL5A1):c.3225C>T (p.Gly1075=)
|
rs1554803625
|
|
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
|
|
|
NM_000093.5(COL5A1):c.3259-5C>T
|
|
|
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
|
|
|
NM_000093.5(COL5A1):c.3357A>G (p.Lys1119=)
|
|
|
NM_000093.5(COL5A1):c.3408C>G (p.Leu1136=)
|
|
|
NM_000093.5(COL5A1):c.341C>G (p.Ala114Gly)
|
|
|
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
|
rs750169623
|
|
NM_000093.5(COL5A1):c.3433C>G (p.Pro1145Ala)
|
|
|
NM_000093.5(COL5A1):c.346C>T (p.Leu116=)
|
|
|
NM_000093.5(COL5A1):c.3483C>G (p.Ile1161Met)
|
|
|
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
|
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
NM_000093.5(COL5A1):c.350T>G (p.Val117Gly)
|
rs1554781492
|
|
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys)
|
rs1554781494
|
|
NM_000093.5(COL5A1):c.3561C>T (p.Pro1187=)
|
|
|
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)
|
rs766961124
|
|
NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln)
|
rs867211079
|
|
NM_000093.5(COL5A1):c.3607C>G (p.Arg1203Gly)
|
|
|
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.3711C>T (p.Gly1237=)
|
rs763583510
|
|
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs)
|
rs1057518653
|
|
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg)
|
rs201920777
|
|
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=)
|
rs367804791
|
|
NM_000093.5(COL5A1):c.3937G>A (p.Glu1313Lys)
|
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000093.5(COL5A1):c.3983del (p.Pro1328fs)
|
rs1554805638
|
|
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=)
|
rs1554805651
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.4128C>T (p.Ser1376=)
|
|
|
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.4200C>T (p.Pro1400=)
|
rs752468183
|
|
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
|
|
|
NM_000093.5(COL5A1):c.4296G>A (p.Gly1432=)
|
|
|
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
|
rs864622040
|
|
NM_000093.5(COL5A1):c.4320A>G (p.Arg1440=)
|
|
|
NM_000093.5(COL5A1):c.432G>A (p.Thr144=)
|
rs528963362
|
|
NM_000093.5(COL5A1):c.432G>T (p.Thr144=)
|
rs528963362
|
|
NM_000093.5(COL5A1):c.433G>A (p.Gly145Arg)
|
|
|
NM_000093.5(COL5A1):c.4427C>A (p.Ser1476Tyr)
|
|
|
NM_000093.5(COL5A1):c.4430G>A (p.Gly1477Asp)
|
|
|
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.527A>G (p.Asn176Ser)
|
|
|
NM_000093.5(COL5A1):c.54del (p.Leu19fs)
|
|
|
NM_000093.5(COL5A1):c.585C>T (p.Asp195=)
|
|
|
NM_000093.5(COL5A1):c.597C>T (p.Ile199=)
|
rs147008954
|
|
NM_000093.5(COL5A1):c.599A>C (p.Asp200Ala)
|
rs1554781695
|
|
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
|
|
|
NM_000093.5(COL5A1):c.655-1G>C
|
rs1554787526
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
|
|
|
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
|
|
|
NM_000093.5(COL5A1):c.67CTG[3] (p.Leu26_Leu28del)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.753C>A (p.Thr251=)
|
rs374813957
|
|
NM_000093.5(COL5A1):c.76C>T (p.Leu26=)
|
|
|
NM_000093.5(COL5A1):c.773A>G (p.Asn258Ser)
|
rs1554787566
|
|
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg)
|
rs1831316736
|
|
NM_000093.5(COL5A1):c.792G>A (p.Thr264=)
|
rs757360763
|
|
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser)
|
rs748603743
|
|
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
|
|
|
NM_000093.5(COL5A1):c.90G>T (p.Ala30=)
|
|
|
NM_000093.5(COL5A1):c.957C>T (p.Pro319=)
|
rs2132639092
|
|
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
|
|
|
NM_000093.5(COL5A1):c.978G>A (p.Gly326=)
|
|
|
NM_000093.5(COL5A1):c.98C>T (p.Pro33Leu)
|
|
|