NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)
|
rs150219725
|
0.00130
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
NM_001849.4(COL6A2):c.2423-11C>T
|
rs199952790
|
0.00096
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)
|
rs35887009
|
0.00080
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)
|
rs151244310
|
0.00063
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
NM_001849.4(COL6A2):c.2462-12G>A
|
rs369839157
|
0.00053
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)
|
rs370446082
|
0.00051
|
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=)
|
rs148249892
|
0.00051
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=)
|
rs145460820
|
0.00048
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=)
|
rs111938213
|
0.00043
|
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys)
|
rs142296092
|
0.00035
|
NM_001849.4(COL6A2):c.1970-10C>T
|
rs373369963
|
0.00034
|
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)
|
rs139399166
|
0.00033
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
NM_001849.4(COL6A2):c.1117-7C>A
|
rs202094835
|
0.00031
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
NM_001849.4(COL6A2):c.2423-9C>G
|
rs368725753
|
0.00026
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00026
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00026
|
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)
|
rs377476546
|
0.00024
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)
|
rs139488626
|
0.00022
|
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=)
|
rs528635866
|
0.00021
|
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)
|
rs201736323
|
0.00021
|
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)
|
rs398123650
|
0.00021
|
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)
|
rs201188174
|
0.00021
|
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His)
|
rs148552966
|
0.00020
|
NM_001849.4(COL6A2):c.1522-20G>A
|
rs368072665
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile)
|
rs199896699
|
0.00019
|
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)
|
rs199606147
|
0.00019
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00018
|
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)
|
rs144334894
|
0.00018
|
NM_001849.4(COL6A2):c.2907G>A (p.Val969=)
|
rs138004735
|
0.00018
|
NM_001849.4(COL6A2):c.828G>A (p.Pro276=)
|
rs140790797
|
0.00018
|
NM_001849.4(COL6A2):c.2556C>T (p.Ala852=)
|
rs148404291
|
0.00017
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser)
|
rs571488000
|
0.00016
|
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)
|
rs145527336
|
0.00016
|
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
|
rs200200671
|
0.00016
|
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met)
|
rs142432514
|
0.00016
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
0.00016
|
NM_001849.4(COL6A2):c.942C>T (p.Ala314=)
|
rs531713008
|
0.00016
|
NM_001849.4(COL6A2):c.1816+16C>T
|
rs545974833
|
0.00015
|
NM_001849.4(COL6A2):c.2010C>A (p.Thr670=)
|
rs142065958
|
0.00015
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
NM_001849.4(COL6A2):c.186C>A (p.Pro62=)
|
rs762050166
|
0.00014
|
NM_001849.4(COL6A2):c.1970-13G>A
|
rs369943351
|
0.00014
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
NM_001849.4(COL6A2):c.624G>A (p.Pro208=)
|
rs146333253
|
0.00014
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00013
|
NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn)
|
rs138276378
|
0.00012
|
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys)
|
rs771886065
|
0.00012
|
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp)
|
rs777822883
|
0.00012
|
NM_001849.4(COL6A2):c.2748C>T (p.His916=)
|
rs372206114
|
0.00012
|
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)
|
rs141579198
|
0.00012
|
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met)
|
rs199955442
|
0.00012
|
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys)
|
rs369344885
|
0.00011
|
NM_001849.4(COL6A2):c.2628C>T (p.Arg876=)
|
rs372413216
|
0.00011
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00011
|
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)
|
rs145352569
|
0.00011
|
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=)
|
rs746339542
|
0.00010
|
NM_001849.4(COL6A2):c.2817C>T (p.His939=)
|
rs368164391
|
0.00010
|
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu)
|
rs756253502
|
0.00010
|
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)
|
rs143891262
|
0.00010
|
NM_001849.4(COL6A2):c.116-6C>T
|
rs761805565
|
0.00009
|
NM_001849.4(COL6A2):c.120G>A (p.Lys40=)
|
rs200025682
|
0.00009
|
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)
|
rs878854386
|
0.00009
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile)
|
rs557865000
|
0.00009
|
NM_001849.4(COL6A2):c.22G>A (p.Val8Met)
|
rs192476178
|
0.00009
|
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)
|
rs368160013
|
0.00009
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)
|
rs199501232
|
0.00009
|
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met)
|
rs140020002
|
0.00009
|
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=)
|
rs201635208
|
0.00009
|
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys)
|
rs374504636
|
0.00009
|
NM_001849.4(COL6A2):c.855+19C>T
|
rs373366455
|
0.00009
|
NM_001849.4(COL6A2):c.855+8T>C
|
rs370008311
|
0.00009
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
NM_001849.4(COL6A2):c.1459-13C>T
|
rs370542209
|
0.00008
|
NM_001849.4(COL6A2):c.1671+12C>T
|
rs369570961
|
0.00008
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=)
|
rs530866573
|
0.00008
|
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu)
|
rs779242861
|
0.00008
|
NM_001849.4(COL6A2):c.672C>T (p.Thr224=)
|
rs759388890
|
0.00008
|
NM_001849.4(COL6A2):c.735+9C>T
|
rs377121540
|
0.00008
|
NM_001849.4(COL6A2):c.945C>T (p.Asp315=)
|
rs549800720
|
0.00008
|
NM_001849.4(COL6A2):c.1333-15C>T
|
rs759266010
|
0.00007
|
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=)
|
rs139571947
|
0.00007
|
NM_001849.4(COL6A2):c.1969+10G>C
|
rs201259184
|
0.00007
|
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=)
|
rs199499499
|
0.00007
|
NM_001849.4(COL6A2):c.2462-20G>A
|
rs559932204
|
0.00007
|
NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser)
|
rs373862445
|
0.00007
|
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)
|
rs373813975
|
0.00007
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln)
|
rs757846451
|
0.00006
|
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys)
|
rs143338050
|
0.00006
|
NM_001849.4(COL6A2):c.1671+17C>T
|
rs372188653
|
0.00006
|
NM_001849.4(COL6A2):c.1671+18G>A
|
rs202115968
|
0.00006
|
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser)
|
rs140097446
|
0.00006
|
NM_001849.4(COL6A2):c.196C>T (p.Leu66=)
|
rs201055113
|
0.00006
|
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=)
|
rs146323303
|
0.00006
|
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=)
|
rs373514837
|
0.00006
|
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)
|
rs377376395
|
0.00006
|
NM_001849.4(COL6A2):c.2238G>A (p.Ala746=)
|
rs535581551
|
0.00006
|
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=)
|
rs373731822
|
0.00006
|
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=)
|
rs771772739
|
0.00006
|
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=)
|
rs149697707
|
0.00006
|
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=)
|
rs144475977
|
0.00006
|
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys)
|
rs886043283
|
0.00006
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=)
|
rs139116075
|
0.00006
|
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=)
|
rs765055618
|
0.00006
|
NM_001849.4(COL6A2):c.2874C>T (p.His958=)
|
rs765550338
|
0.00006
|
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=)
|
rs369756029
|
0.00006
|
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)
|
rs145959270
|
0.00006
|
NM_001849.4(COL6A2):c.2994C>T (p.His998=)
|
rs376362856
|
0.00006
|
NM_001849.4(COL6A2):c.402C>T (p.Thr134=)
|
rs201221113
|
0.00006
|
NM_001849.4(COL6A2):c.525G>A (p.Leu175=)
|
rs754034094
|
0.00006
|
NM_001849.4(COL6A2):c.856-14G>A
|
rs759917394
|
0.00006
|
NM_001849.4(COL6A2):c.139G>A (p.Val47Met)
|
rs370171967
|
0.00005
|
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)
|
rs267606749
|
0.00005
|
NM_001849.4(COL6A2):c.1608+15T>A
|
rs759865245
|
0.00005
|
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)
|
rs754196388
|
0.00005
|
NM_001849.4(COL6A2):c.1771-13G>A
|
rs376708282
|
0.00005
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00005
|
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu)
|
rs145450812
|
0.00005
|
NM_001849.4(COL6A2):c.2196C>T (p.Asp732=)
|
rs188508745
|
0.00005
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=)
|
rs201571249
|
0.00005
|
NM_001849.4(COL6A2):c.2322C>T (p.Ser774=)
|
rs200386811
|
0.00005
|
NM_001849.4(COL6A2):c.2462-13C>T
|
rs533454494
|
0.00005
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=)
|
rs748286207
|
0.00005
|
NM_001849.4(COL6A2):c.2757A>G (p.Ala919=)
|
rs758646770
|
0.00005
|
NM_001849.4(COL6A2):c.2847C>T (p.Asp949=)
|
rs369129061
|
0.00005
|
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)
|
rs143569686
|
0.00005
|
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn)
|
rs372431744
|
0.00005
|
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)
|
rs369025432
|
0.00005
|
NM_001849.4(COL6A2):c.536G>A (p.Arg179Gln)
|
rs376139670
|
0.00005
|
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
NM_001849.4(COL6A2):c.736-7G>A
|
rs375288629
|
0.00005
|
NM_001849.4(COL6A2):c.999+15G>A
|
rs372055794
|
0.00005
|
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His)
|
rs760872485
|
0.00004
|
NM_001849.4(COL6A2):c.1017C>T (p.Ile339=)
|
rs766157503
|
0.00004
|
NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys)
|
rs142880107
|
0.00004
|
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=)
|
rs377210303
|
0.00004
|
NM_001849.4(COL6A2):c.1771-14C>T
|
rs200727166
|
0.00004
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
NM_001849.4(COL6A2):c.1970-15G>A
|
rs372285273
|
0.00004
|
NM_001849.4(COL6A2):c.1970-20C>T
|
rs568102534
|
0.00004
|
NM_001849.4(COL6A2):c.1970-8G>C
|
rs771873003
|
0.00004
|
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=)
|
rs776187095
|
0.00004
|
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=)
|
rs370558215
|
0.00004
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
NM_001849.4(COL6A2):c.2395G>A (p.Asp799Asn)
|
rs372936386
|
0.00004
|
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)
|
rs761913437
|
0.00004
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met)
|
rs376841327
|
0.00004
|
NM_001849.4(COL6A2):c.249C>T (p.Asn83=)
|
rs151032529
|
0.00004
|
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys)
|
rs772005975
|
0.00004
|
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp)
|
rs759689002
|
0.00004
|
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)
|
rs200488881
|
0.00004
|
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=)
|
rs376791811
|
0.00004
|
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=)
|
rs374163190
|
0.00004
|
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=)
|
rs757818559
|
0.00004
|
NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn)
|
rs773407652
|
0.00004
|
NM_001849.4(COL6A2):c.2934C>T (p.Ser978=)
|
rs139814466
|
0.00004
|
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=)
|
rs764590595
|
0.00004
|
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=)
|
rs746012569
|
0.00004
|
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys)
|
rs373392391
|
0.00004
|
NM_001849.4(COL6A2):c.411G>A (p.Ala137=)
|
rs528885146
|
0.00004
|
NM_001849.4(COL6A2):c.472G>A (p.Val158Met)
|
rs201792591
|
0.00004
|
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly)
|
rs760509198
|
0.00004
|
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp)
|
rs754048358
|
0.00004
|
NM_001849.4(COL6A2):c.642C>T (p.Asn214=)
|
rs781584161
|
0.00004
|
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)
|
rs530625182
|
0.00004
|
NM_001849.4(COL6A2):c.714+10G>A
|
rs777394169
|
0.00004
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu)
|
rs150057026
|
0.00004
|
NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu)
|
rs778546141
|
0.00004
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
NM_001849.4(COL6A2):c.1180-12C>T
|
rs1189408610
|
0.00003
|
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg)
|
rs762490709
|
0.00003
|
NM_001849.4(COL6A2):c.1287C>T (p.Pro429=)
|
rs755258603
|
0.00003
|
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)
|
rs750842859
|
0.00003
|
NM_001849.4(COL6A2):c.1395+9G>C
|
rs747883263
|
0.00003
|
NM_001849.4(COL6A2):c.1522-7C>T
|
rs200501842
|
0.00003
|
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His)
|
rs781676156
|
0.00003
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
NM_001849.4(COL6A2):c.1671+13G>A
|
rs756078022
|
0.00003
|
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)
|
rs768434256
|
0.00003
|
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met)
|
rs149731632
|
0.00003
|
NM_001849.4(COL6A2):c.1809G>A (p.Gly603=)
|
rs767902639
|
0.00003
|
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)
|
rs758550765
|
0.00003
|
NM_001849.4(COL6A2):c.1872G>A (p.Glu624=)
|
rs147566231
|
0.00003
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
NM_001849.4(COL6A2):c.2235G>T (p.Arg745=)
|
rs773668391
|
0.00003
|
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=)
|
rs377458657
|
0.00003
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
NM_001849.4(COL6A2):c.2461+10G>A
|
rs777710817
|
0.00003
|
NM_001849.4(COL6A2):c.2461+16C>T
|
rs769731536
|
0.00003
|
NM_001849.4(COL6A2):c.2462-17C>T
|
rs1368389922
|
0.00003
|
NM_001849.4(COL6A2):c.2462-5C>T
|
rs760890154
|
0.00003
|
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)
|
rs374166613
|
0.00003
|
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=)
|
rs1474756520
|
0.00003
|
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=)
|
rs139798208
|
0.00003
|
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)
|
rs372523558
|
0.00003
|
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=)
|
rs752243349
|
0.00003
|
NM_001849.4(COL6A2):c.333G>A (p.Pro111=)
|
rs370531466
|
0.00003
|
NM_001849.4(COL6A2):c.471C>T (p.Ala157=)
|
rs372298335
|
0.00003
|
NM_001849.4(COL6A2):c.522G>A (p.Lys174=)
|
rs554016354
|
0.00003
|
NM_001849.4(COL6A2):c.720C>T (p.His240=)
|
rs763803023
|
0.00003
|
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=)
|
rs200824569
|
0.00003
|
NM_001849.4(COL6A2):c.879C>T (p.Pro293=)
|
rs138389174
|
0.00003
|
NM_001849.4(COL6A2):c.903C>T (p.Gly301=)
|
rs541325013
|
0.00003
|
NM_001849.4(COL6A2):c.999+14C>T
|
rs761013382
|
0.00003
|
NM_001849.4(COL6A2):c.1000-6C>T
|
rs761428568
|
0.00002
|
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=)
|
rs760596115
|
0.00002
|
NM_001849.4(COL6A2):c.1053+10G>A
|
rs377311004
|
0.00002
|
NM_001849.4(COL6A2):c.1117-14G>A
|
rs768473305
|
0.00002
|
NM_001849.4(COL6A2):c.115+20G>A
|
rs767925731
|
0.00002
|
NM_001849.4(COL6A2):c.123C>T (p.Thr41=)
|
rs766840536
|
0.00002
|
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
|
rs200167715
|
0.00002
|
NM_001849.4(COL6A2):c.1270-16C>T
|
rs548690364
|
0.00002
|
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His)
|
rs773161640
|
0.00002
|
NM_001849.4(COL6A2):c.1518C>T (p.Pro506=)
|
rs767192013
|
0.00002
|
NM_001849.4(COL6A2):c.168C>T (p.Ser56=)
|
rs749106470
|
0.00002
|
NM_001849.4(COL6A2):c.1776T>C (p.Cys592=)
|
rs748153892
|
0.00002
|
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys)
|
rs748283415
|
0.00002
|
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=)
|
rs143819480
|
0.00002
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
NM_001849.4(COL6A2):c.2055G>A (p.Ser685=)
|
rs752648726
|
0.00002
|
NM_001849.4(COL6A2):c.2217C>T (p.Asp739=)
|
rs374795477
|
0.00002
|
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=)
|
rs200096552
|
0.00002
|
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=)
|
rs747494120
|
0.00002
|
NM_001849.4(COL6A2):c.2271C>T (p.Ile757=)
|
rs771683876
|
0.00002
|
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr)
|
rs759293889
|
0.00002
|
NM_001849.4(COL6A2):c.2349G>A (p.Val783=)
|
rs886044418
|
0.00002
|
NM_001849.4(COL6A2):c.2409C>T (p.Asp803=)
|
rs745800327
|
0.00002
|
NM_001849.4(COL6A2):c.2698G>A (p.Ala900Thr)
|
rs768339045
|
0.00002
|
NM_001849.4(COL6A2):c.273G>A (p.Ala91=)
|
rs753168760
|
0.00002
|
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)
|
rs886057168
|
0.00002
|
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His)
|
rs762812372
|
0.00002
|
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys)
|
rs372022187
|
0.00002
|
NM_001849.4(COL6A2):c.2892G>A (p.Met964Ile)
|
rs747174626
|
0.00002
|
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)
|
rs532656197
|
0.00002
|
NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His)
|
rs376368468
|
0.00002
|
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile)
|
rs751410120
|
0.00002
|
NM_001849.4(COL6A2):c.735+10G>A
|
rs748325597
|
0.00002
|
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu)
|
rs763922121
|
0.00002
|
NM_001849.4(COL6A2):c.900+13G>A
|
rs767295307
|
0.00002
|
NM_001849.4(COL6A2):c.928-10T>A
|
rs747608945
|
0.00002
|
NM_001849.4(COL6A2):c.93C>T (p.Thr31=)
|
rs953778915
|
0.00002
|
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)
|
rs547648292
|
0.00002
|
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)
|
rs775751831
|
0.00001
|
NM_001849.4(COL6A2):c.1053+9C>T
|
rs781673478
|
0.00001
|
NM_001849.4(COL6A2):c.1054-10C>T
|
rs1456017785
|
0.00001
|
NM_001849.4(COL6A2):c.1054-7C>T
|
rs762738666
|
0.00001
|
NM_001849.4(COL6A2):c.1058C>T (p.Pro353Leu)
|
rs767744331
|
0.00001
|
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=)
|
rs1381119779
|
0.00001
|
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)
|
rs768542626
|
0.00001
|
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=)
|
rs148423929
|
0.00001
|
NM_001849.4(COL6A2):c.1180-10C>T
|
rs777782503
|
0.00001
|
NM_001849.4(COL6A2):c.1263C>T (p.Gly421=)
|
rs778836612
|
0.00001
|
NM_001849.4(COL6A2):c.1269+20_1269+21dup
|
rs762054025
|
0.00001
|
NM_001849.4(COL6A2):c.1292C>T (p.Thr431Ile)
|
rs1381049424
|
0.00001
|
NM_001849.4(COL6A2):c.1332+10C>T
|
rs886042745
|
0.00001
|
NM_001849.4(COL6A2):c.1332+11G>A
|
rs915604664
|
0.00001
|
NM_001849.4(COL6A2):c.1332+11G>C
|
rs915604664
|
0.00001
|
NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg)
|
rs886044030
|
0.00001
|
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=)
|
rs886044428
|
0.00001
|
NM_001849.4(COL6A2):c.1395+20C>T
|
rs374032380
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His)
|
rs200482836
|
0.00001
|
NM_001849.4(COL6A2):c.1440T>C (p.Leu480=)
|
rs774677437
|
0.00001
|
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=)
|
rs772436808
|
0.00001
|
NM_001849.4(COL6A2):c.1521+10C>G
|
rs753385303
|
0.00001
|
NM_001849.4(COL6A2):c.1522-12G>A
|
rs770511180
|
0.00001
|
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=)
|
rs199842179
|
0.00001
|
NM_001849.4(COL6A2):c.1554A>G (p.Pro518=)
|
rs779424467
|
0.00001
|
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)
|
rs367693258
|
0.00001
|
NM_001849.4(COL6A2):c.1596A>G (p.Pro532=)
|
rs1337532842
|
0.00001
|
NM_001849.4(COL6A2):c.1608+17G>A
|
rs748591526
|
0.00001
|
NM_001849.4(COL6A2):c.1609-17T>C
|
rs1188602280
|
0.00001
|
NM_001849.4(COL6A2):c.1609-20A>G
|
rs1291554758
|
0.00001
|
NM_001849.4(COL6A2):c.1609-7G>A
|
rs555312732
|
0.00001
|
NM_001849.4(COL6A2):c.1620C>T (p.Gly540=)
|
rs774587547
|
0.00001
|
NM_001849.4(COL6A2):c.1683T>C (p.Gly561=)
|
rs564536740
|
0.00001
|
NM_001849.4(COL6A2):c.1731C>T (p.Pro577=)
|
rs189470660
|
0.00001
|
NM_001849.4(COL6A2):c.1734+14C>T
|
rs886057167
|
0.00001
|
NM_001849.4(COL6A2):c.1735-14C>T
|
rs762776002
|
0.00001
|
NM_001849.4(COL6A2):c.1746C>T (p.Gly582=)
|
rs1158803111
|
0.00001
|
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=)
|
rs1422175519
|
0.00001
|
NM_001849.4(COL6A2):c.1770+11C>T
|
rs755518889
|
0.00001
|
NM_001849.4(COL6A2):c.1770+18C>T
|
rs1040827784
|
0.00001
|
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=)
|
rs751987553
|
0.00001
|
NM_001849.4(COL6A2):c.1816+9C>T
|
rs1456625954
|
0.00001
|
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)
|
rs746193653
|
0.00001
|
NM_001849.4(COL6A2):c.1854C>T (p.Phe618=)
|
rs770024474
|
0.00001
|
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=)
|
rs367857478
|
0.00001
|
NM_001849.4(COL6A2):c.1887C>T (p.Thr629=)
|
rs758542107
|
0.00001
|
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)
|
rs554113319
|
0.00001
|
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met)
|
rs1032420539
|
0.00001
|
NM_001849.4(COL6A2):c.1970-16C>T
|
rs370331777
|
0.00001
|
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met)
|
rs758788067
|
0.00001
|
NM_001849.4(COL6A2):c.1989G>A (p.Val663=)
|
rs944558259
|
0.00001
|
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)
|
rs138948335
|
0.00001
|
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=)
|
rs771823896
|
0.00001
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys)
|
rs763502626
|
0.00001
|
NM_001849.4(COL6A2):c.207C>T (p.His69=)
|
rs754275746
|
0.00001
|
NM_001849.4(COL6A2):c.2082C>T (p.Leu694=)
|
rs763384399
|
0.00001
|
NM_001849.4(COL6A2):c.2118C>T (p.Ala706=)
|
rs759188267
|
0.00001
|
NM_001849.4(COL6A2):c.2121C>G (p.Leu707=)
|
rs764727296
|
0.00001
|
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=)
|
rs531816975
|
0.00001
|
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu)
|
rs746159648
|
0.00001
|
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=)
|
rs1345626063
|
0.00001
|
NM_001849.4(COL6A2):c.2166G>A (p.Lys722=)
|
rs930056910
|
0.00001
|
NM_001849.4(COL6A2):c.2265G>A (p.Thr755=)
|
rs367994212
|
0.00001
|
NM_001849.4(COL6A2):c.2298G>A (p.Lys766=)
|
rs1487961328
|
0.00001
|
NM_001849.4(COL6A2):c.2394C>T (p.Ile798=)
|
rs756575729
|
0.00001
|
NM_001849.4(COL6A2):c.2401A>G (p.Met801Val)
|
rs202155540
|
0.00001
|
NM_001849.4(COL6A2):c.2412C>T (p.Val804=)
|
rs909940106
|
0.00001
|
NM_001849.4(COL6A2):c.2423-18C>T
|
rs866625140
|
0.00001
|
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=)
|
rs776788517
|
0.00001
|
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met)
|
rs746393019
|
0.00001
|
NM_001849.4(COL6A2):c.2457A>G (p.Gln819=)
|
rs201518654
|
0.00001
|
NM_001849.4(COL6A2):c.2461+11G>A
|
rs200484565
|
0.00001
|
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)
|
rs1243558040
|
0.00001
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
NM_001849.4(COL6A2):c.2496G>A (p.Val832=)
|
rs567775494
|
0.00001
|
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His)
|
rs201035005
|
0.00001
|
NM_001849.4(COL6A2):c.2640G>A (p.Leu880=)
|
rs546825359
|
0.00001
|
NM_001849.4(COL6A2):c.2663A>G (p.Gln888Arg)
|
rs750318665
|
0.00001
|
NM_001849.4(COL6A2):c.2713C>T (p.Leu905=)
|
rs753611948
|
0.00001
|
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=)
|
rs747734639
|
0.00001
|
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)
|
rs751630559
|
0.00001
|
NM_001849.4(COL6A2):c.2766G>A (p.Val922=)
|
rs557446829
|
0.00001
|
NM_001849.4(COL6A2):c.2781C>T (p.Ala927=)
|
rs776437060
|
0.00001
|
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu)
|
rs780505425
|
0.00001
|
NM_001849.4(COL6A2):c.2832C>T (p.Phe944=)
|
rs912421199
|
0.00001
|
NM_001849.4(COL6A2):c.2853C>A (p.Val951=)
|
rs745419873
|
0.00001
|
NM_001849.4(COL6A2):c.2862C>T (p.Asn954=)
|
rs761975390
|
0.00001
|
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu)
|
rs750097119
|
0.00001
|
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=)
|
rs759502409
|
0.00001
|
NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile)
|
rs753423696
|
0.00001
|
NM_001849.4(COL6A2):c.2988G>A (p.Val996=)
|
rs1221541120
|
0.00001
|
NM_001849.4(COL6A2):c.3000G>A (p.Lys1000=)
|
rs780794521
|
0.00001
|
NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val)
|
rs1157175258
|
0.00001
|
NM_001849.4(COL6A2):c.315G>A (p.Val105=)
|
rs1467107121
|
0.00001
|
NM_001849.4(COL6A2):c.33C>G (p.Leu11=)
|
rs765568801
|
0.00001
|
NM_001849.4(COL6A2):c.390C>T (p.Arg130=)
|
rs544610322
|
0.00001
|
NM_001849.4(COL6A2):c.408C>T (p.Cys136=)
|
rs745970130
|
0.00001
|
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp)
|
rs749711324
|
0.00001
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
NM_001849.4(COL6A2):c.468C>T (p.Phe156=)
|
rs144117982
|
0.00001
|
NM_001849.4(COL6A2):c.498C>T (p.Thr166=)
|
rs762436629
|
0.00001
|
NM_001849.4(COL6A2):c.576C>T (p.Pro192=)
|
rs757571306
|
0.00001
|
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)
|
rs559666084
|
0.00001
|
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu)
|
rs1355259368
|
0.00001
|
NM_001849.4(COL6A2):c.714+14G>A
|
rs781213927
|
0.00001
|
NM_001849.4(COL6A2):c.726C>T (p.Ala242=)
|
rs767184248
|
0.00001
|
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)
|
rs199806576
|
0.00001
|
NM_001849.4(COL6A2):c.805G>A (p.Ala269Thr)
|
rs1354826916
|
0.00001
|
NM_001849.4(COL6A2):c.864G>A (p.Pro288=)
|
rs375307603
|
0.00001
|
NM_001849.4(COL6A2):c.924G>A (p.Glu308=)
|
rs142674726
|
0.00001
|
NM_001849.4(COL6A2):c.951C>T (p.Arg317=)
|
rs369190399
|
0.00001
|
NM_001849.4(COL6A2):c.955-10C>T
|
rs751105293
|
0.00001
|
NM_001849.4(COL6A2):c.955-17C>T
|
rs372393202
|
0.00001
|
NM_001849.4(COL6A2):c.955-6C>T
|
rs781214021
|
0.00001
|
NM_001849.4(COL6A2):c.978G>A (p.Lys326=)
|
rs1480541163
|
0.00001
|
NM_001849.4(COL6A2):c.987C>T (p.Thr329=)
|
rs748215430
|
0.00001
|
NM_001849.4(COL6A2):c.999+7G>A
|
rs199783099
|
0.00001
|
NM_001849.4(COL6A2):c.1000-10T>C
|
rs1036136617
|
|
NM_001849.4(COL6A2):c.1000-13C>T
|
|
|
NM_001849.4(COL6A2):c.1000-14C>T
|
|
|
NM_001849.4(COL6A2):c.1000-15C>T
|
rs902044548
|
|
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=)
|
rs1568930411
|
|
NM_001849.4(COL6A2):c.102C>T (p.Asn34=)
|
|
|
NM_001849.4(COL6A2):c.1054-12C>T
|
|
|
NM_001849.4(COL6A2):c.1054-7C>G
|
rs762738666
|
|
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His)
|
rs188184732
|
|
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=)
|
rs374673302
|
|
NM_001849.4(COL6A2):c.1110C>T (p.Gly370=)
|
|
|
NM_001849.4(COL6A2):c.1117-4C>T
|
rs2123635658
|
|
NM_001849.4(COL6A2):c.1117-8C>T
|
rs1601231143
|
|
NM_001849.4(COL6A2):c.1119G>A (p.Gly373=)
|
rs760861317
|
|
NM_001849.4(COL6A2):c.115+12C>T
|
|
|
NM_001849.4(COL6A2):c.115+13G>A
|
|
|
NM_001849.4(COL6A2):c.115+16G>A
|
|
|
NM_001849.4(COL6A2):c.115+17G>A
|
|
|
NM_001849.4(COL6A2):c.115+19C>T
|
|
|
NM_001849.4(COL6A2):c.115+19_115+25del
|
rs757969178
|
|
NM_001849.4(COL6A2):c.116-14C>G
|
|
|
NM_001849.4(COL6A2):c.1179+20C>T
|
|
|
NM_001849.4(COL6A2):c.1180-10C>G
|
rs777782503
|
|
NM_001849.4(COL6A2):c.1180-15C>T
|
|
|
NM_001849.4(COL6A2):c.1180-16T>C
|
rs1355356965
|
|
NM_001849.4(COL6A2):c.1180-5_1180-3del
|
rs774369631
|
|
NM_001849.4(COL6A2):c.1191C>T (p.Gly397=)
|
|
|
NM_001849.4(COL6A2):c.1236C>G (p.Gly412=)
|
|
|
NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)
|
|
|
NM_001849.4(COL6A2):c.1251C>G (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1269+14G>A
|
|
|
NM_001849.4(COL6A2):c.1269+17C>A
|
|
|
NM_001849.4(COL6A2):c.1269+7C>T
|
rs751071208
|
|
NM_001849.4(COL6A2):c.1269+9C>T
|
|
|
NM_001849.4(COL6A2):c.1270-8C>A
|
rs1601233823
|
|
NM_001849.4(COL6A2):c.1270-8C>T
|
|
|
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=)
|
rs1601233959
|
|
NM_001849.4(COL6A2):c.129C>T (p.Cys43=)
|
rs755324001
|
|
NM_001849.4(COL6A2):c.1300A>G (p.Ser434Gly)
|
|
|
NM_001849.4(COL6A2):c.1302C>T (p.Ser434=)
|
rs1230708321
|
|
NM_001849.4(COL6A2):c.132C>T (p.Pro44=)
|
rs2123614144
|
|
NM_001849.4(COL6A2):c.1332+11G>T
|
|
|
NM_001849.4(COL6A2):c.1333-12C>T
|
|
|
NM_001849.4(COL6A2):c.1333-5C>T
|
rs2078547153
|
|
NM_001849.4(COL6A2):c.1333-9_1333-5del
|
rs1193152104
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1338C>T (p.Asp446=)
|
|
|
NM_001849.4(COL6A2):c.1368T>C (p.Ala456=)
|
|
|
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=)
|
rs1601235960
|
|
NM_001849.4(COL6A2):c.1395+20_1395+59dup
|
rs1363017776
|
|
NM_001849.4(COL6A2):c.1395+7G>A
|
|
|
NM_001849.4(COL6A2):c.1395+9_1395+38del
|
|
|
NM_001849.4(COL6A2):c.1396-20A>C
|
rs1398193069
|
|
NM_001849.4(COL6A2):c.1396-4C>A
|
|
|
NM_001849.4(COL6A2):c.1396-8T>C
|
|
|
NM_001849.4(COL6A2):c.1398A>G (p.Gly466=)
|
rs758072176
|
|
NM_001849.4(COL6A2):c.1425C>A (p.Gly475=)
|
|
|
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=)
|
rs745867374
|
|
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=)
|
rs528087300
|
|
NM_001849.4(COL6A2):c.1459-11C>T
|
|
|
NM_001849.4(COL6A2):c.1459-13C>G
|
|
|
NM_001849.4(COL6A2):c.1459-17T>C
|
rs2123646541
|
|
NM_001849.4(COL6A2):c.1459-5del
|
|
|
NM_001849.4(COL6A2):c.1459-6C>T
|
rs2078566233
|
|
NM_001849.4(COL6A2):c.1459-7C>G
|
|
|
NM_001849.4(COL6A2):c.1497A>T (p.Gly499=)
|
|
|
NM_001849.4(COL6A2):c.1503A>C (p.Ser501=)
|
rs2123646795
|
|
NM_001849.4(COL6A2):c.150G>T (p.Val50=)
|
rs2123614200
|
|
NM_001849.4(COL6A2):c.1521+10C>T
|
rs753385303
|
|
NM_001849.4(COL6A2):c.1521+19G>A
|
|
|
NM_001849.4(COL6A2):c.1521+9C>T
|
|
|
NM_001849.4(COL6A2):c.1522-12G>C
|
rs770511180
|
|
NM_001849.4(COL6A2):c.1522-13C>T
|
|
|
NM_001849.4(COL6A2):c.1522-17T>C
|
|
|
NM_001849.4(COL6A2):c.1522-20G>C
|
|
|
NM_001849.4(COL6A2):c.1522-8T>C
|
|
|
NM_001849.4(COL6A2):c.1522-9C>A
|
rs371576207
|
|
NM_001849.4(COL6A2):c.1530C>G (p.Pro510=)
|
rs199842179
|
|
NM_001849.4(COL6A2):c.1534A>C (p.Arg512=)
|
|
|
NM_001849.4(COL6A2):c.1572+13C>G
|
rs2078577323
|
|
NM_001849.4(COL6A2):c.1573-13G>A
|
rs771931533
|
|
NM_001849.4(COL6A2):c.1573-14T>C
|
rs2078581898
|
|
NM_001849.4(COL6A2):c.1573-20G>A
|
|
|
NM_001849.4(COL6A2):c.1573-8C>T
|
|
|
NM_001849.4(COL6A2):c.1590C>T (p.Pro530=)
|
rs758975198
|
|
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=)
|
rs1394972929
|
|
NM_001849.4(COL6A2):c.159C>G (p.Thr53=)
|
rs2123614218
|
|
NM_001849.4(COL6A2):c.1608+13C>G
|
|
|
NM_001849.4(COL6A2):c.1608+17G>C
|
|
|
NM_001849.4(COL6A2):c.1609-19C>T
|
|
|
NM_001849.4(COL6A2):c.1614C>G (p.Gly538=)
|
|
|
NM_001849.4(COL6A2):c.1647G>A (p.Gly549=)
|
|
|
NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)
|
|
|
NM_001849.4(COL6A2):c.1671+10A>C
|
rs915786
|
|
NM_001849.4(COL6A2):c.1671+12C>G
|
|
|
NM_001849.4(COL6A2):c.1671+7G>A
|
|
|
NM_001849.4(COL6A2):c.1671+9_1671+10inv
|
|
|
NM_001849.4(COL6A2):c.1672-15_1672-13del
|
|
|
NM_001849.4(COL6A2):c.1672-20C>T
|
|
|
NM_001849.4(COL6A2):c.1689T>G (p.Pro563=)
|
|
|
NM_001849.4(COL6A2):c.1693G>A (p.Glu565Lys)
|
|
|
NM_001849.4(COL6A2):c.1713A>G (p.Pro571=)
|
rs2123658659
|
|
NM_001849.4(COL6A2):c.1734+16G>A
|
|
|
NM_001849.4(COL6A2):c.1734+9G>A
|
|
|
NM_001849.4(COL6A2):c.1735-11_1735-10delinsCT
|
rs2123659310
|
|
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)
|
rs764878153
|
|
NM_001849.4(COL6A2):c.174C>G (p.Thr58=)
|
|
|
NM_001849.4(COL6A2):c.1750C>G (p.Pro584Ala)
|
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
NM_001849.4(COL6A2):c.1770+12A>G
|
|
|
NM_001849.4(COL6A2):c.1770+13T>C
|
|
|
NM_001849.4(COL6A2):c.1770+15G>C
|
|
|
NM_001849.4(COL6A2):c.1771-12T>C
|
|
|
NM_001849.4(COL6A2):c.1771-16G>A
|
|
|
NM_001849.4(COL6A2):c.1771-19C>T
|
|
|
NM_001849.4(COL6A2):c.1771-20G>C
|
|
|
NM_001849.4(COL6A2):c.1771-9G>A
|
|
|
NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)
|
|
|
NM_001849.4(COL6A2):c.1797G>A (p.Arg599=)
|
rs370858447
|
|
NM_001849.4(COL6A2):c.1816+11G>A
|
|
|
NM_001849.4(COL6A2):c.1816+12C>T
|
|
|
NM_001849.4(COL6A2):c.1816+17G>A
|
|
|
NM_001849.4(COL6A2):c.1816+18_1816+30del
|
|
|
NM_001849.4(COL6A2):c.1816+19_1816+28del
|
|
|
NM_001849.4(COL6A2):c.1816+20A>C
|
|
|
NM_001849.4(COL6A2):c.1816+9C>A
|
rs1456625954
|
|
NM_001849.4(COL6A2):c.1817-18A>C
|
|
|
NM_001849.4(COL6A2):c.1817-19G>A
|
rs2123661488
|
|
NM_001849.4(COL6A2):c.1817-4C>A
|
|
|
NM_001849.4(COL6A2):c.1817-4C>T
|
rs373659176
|
|
NM_001849.4(COL6A2):c.1817-9C>T
|
rs766915366
|
|
NM_001849.4(COL6A2):c.1827G>A (p.Lys609=)
|
rs1451931496
|
|
NM_001849.4(COL6A2):c.1840C>T (p.Leu614=)
|
|
|
NM_001849.4(COL6A2):c.1845C>T (p.Asp615=)
|
rs908989305
|
|
NM_001849.4(COL6A2):c.1917C>T (p.Ile639=)
|
|
|
NM_001849.4(COL6A2):c.1929C>T (p.Asn643=)
|
rs1472678084
|
|
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=)
|
rs776676512
|
|
NM_001849.4(COL6A2):c.1935G>A (p.Leu645=)
|
rs1458485829
|
|
NM_001849.4(COL6A2):c.1954C>T (p.Pro652Ser)
|
|
|
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=)
|
rs547589437
|
|
NM_001849.4(COL6A2):c.1969+10G>T
|
rs201259184
|
|
NM_001849.4(COL6A2):c.1969+11C>T
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+17dup
|
rs760398644
|
|
NM_001849.4(COL6A2):c.1969+12_1969+38dup
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+48del
|
rs2123662331
|
|
NM_001849.4(COL6A2):c.1969+12del
|
|
|
NM_001849.4(COL6A2):c.1969+17C>G
|
rs539735984
|
|
NM_001849.4(COL6A2):c.1969+19G>A
|
|
|
NM_001849.4(COL6A2):c.1969+20G>C
|
|
|
NM_001849.4(COL6A2):c.1969+20G>T
|
|
|
NM_001849.4(COL6A2):c.1969+7G>A
|
|
|
NM_001849.4(COL6A2):c.1970-12_1970-9dup
|
|
|
NM_001849.4(COL6A2):c.1970-14C>G
|
|
|
NM_001849.4(COL6A2):c.1970-4G>T
|
|
|
NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)
|
|
|
NM_001849.4(COL6A2):c.1980G>T (p.Val660=)
|
rs201427728
|
|
NM_001849.4(COL6A2):c.1983C>T (p.Gly661=)
|
|
|
NM_001849.4(COL6A2):c.2007C>T (p.Gly669=)
|
rs369568238
|
|
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
|
rs1601216910
|
|
NM_001849.4(COL6A2):c.2022C>T (p.Ile674=)
|
|
|
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=)
|
rs1601249990
|
|
NM_001849.4(COL6A2):c.2044G>A (p.Asp682Asn)
|
|
|
NM_001849.4(COL6A2):c.2070T>C (p.Ala690=)
|
|
|
NM_001849.4(COL6A2):c.2124G>A (p.Lys708=)
|
|
|
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr)
|
rs375608173
|
|
NM_001849.4(COL6A2):c.2148G>A (p.Lys716=)
|
|
|
NM_001849.4(COL6A2):c.2151G>A (p.Glu717=)
|
|
|
NM_001849.4(COL6A2):c.2156G>A (p.Arg719Gln)
|
|
|
NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)
|
|
|
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His)
|
rs145450812
|
|
NM_001849.4(COL6A2):c.2172T>G (p.Arg724=)
|
rs2123663974
|
|
NM_001849.4(COL6A2):c.2175G>A (p.Val725=)
|
rs2123663986
|
|
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=)
|
rs1334569870
|
|
NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)
|
|
|
NM_001849.4(COL6A2):c.21C>T (p.Ser7=)
|
rs760481395
|
|
NM_001849.4(COL6A2):c.2208C>T (p.Asp736=)
|
|
|
NM_001849.4(COL6A2):c.2214G>A (p.Arg738=)
|
|
|
NM_001849.4(COL6A2):c.2218G>A (p.Asp740Asn)
|
|
|
NM_001849.4(COL6A2):c.2226C>T (p.Leu742=)
|
rs775259194
|
|
NM_001849.4(COL6A2):c.2230T>C (p.Leu744=)
|
rs962884368
|
|
NM_001849.4(COL6A2):c.2233C>A (p.Arg745=)
|
rs140643748
|
|
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)
|
rs375884809
|
|
NM_001849.4(COL6A2):c.2256C>T (p.Val752=)
|
|
|
NM_001849.4(COL6A2):c.225G>A (p.Pro75=)
|
|
|
NM_001849.4(COL6A2):c.2297A>C (p.Lys766Thr)
|
|
|
NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)
|
|
|
NM_001849.4(COL6A2):c.2340A>C (p.Pro780=)
|
rs757806161
|
|
NM_001849.4(COL6A2):c.2343G>A (p.Gln781=)
|
|
|
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=)
|
rs775201159
|
|
NM_001849.4(COL6A2):c.2370C>G (p.Ser790=)
|
|
|
NM_001849.4(COL6A2):c.2422+17G>A
|
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2422+8T>C
|
rs1220569382
|
|
NM_001849.4(COL6A2):c.2423-11CT[2]
|
rs756221937
|
|
NM_001849.4(COL6A2):c.2423-12C>T
|
|
|
NM_001849.4(COL6A2):c.2423-17T>C
|
|
|
NM_001849.4(COL6A2):c.2423-18CT[2]
|
rs2123666734
|
|
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCTCTCTCC
|
|
|
NM_001849.4(COL6A2):c.2423-19C>T
|
|
|
NM_001849.4(COL6A2):c.2445C>T (p.Asp815=)
|
rs2078672055
|
|
NM_001849.4(COL6A2):c.2451C>G (p.Pro817=)
|
rs2123667105
|
|
NM_001849.4(COL6A2):c.2461+15C>T
|
rs1057002808
|
|
NM_001849.4(COL6A2):c.2461+9G>A
|
rs2078672583
|
|
NM_001849.4(COL6A2):c.2462-20G>C
|
|
|
NM_001849.4(COL6A2):c.2462-20G>T
|
|
|
NM_001849.4(COL6A2):c.2462-5dup
|
rs797044699
|
|
NM_001849.4(COL6A2):c.2462-8C>T
|
rs1419954494
|
|
NM_001849.4(COL6A2):c.2472G>A (p.Val824=)
|
rs1484313723
|
|
NM_001849.4(COL6A2):c.2500A>G (p.Ile834Val)
|
|
|
NM_001849.4(COL6A2):c.2502C>A (p.Ile834=)
|
rs369040271
|
|
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=)
|
rs369040271
|
|
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
|
|
|
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
|
|
|
NM_001849.4(COL6A2):c.2535T>C (p.Gly845=)
|
rs748054346
|
|
NM_001849.4(COL6A2):c.2571G>A (p.Glu857=)
|
|
|
NM_001849.4(COL6A2):c.2579C>T (p.Ala860Val)
|
|
|
NM_001849.4(COL6A2):c.2580G>T (p.Ala860=)
|
|
|
NM_001849.4(COL6A2):c.2584C>A (p.Arg862=)
|
|
|
NM_001849.4(COL6A2):c.2586G>A (p.Arg862=)
|
|
|
NM_001849.4(COL6A2):c.2599C>A (p.Arg867=)
|
rs144484744
|
|
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln)
|
rs61735831
|
|
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=)
|
rs147044688
|
|
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)
|
rs369396198
|
|
NM_001849.4(COL6A2):c.2637G>C (p.Leu879=)
|
rs1339393899
|
|
NM_001849.4(COL6A2):c.2637G>T (p.Leu879=)
|
|
|
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
|
|
|
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=)
|
rs908318849
|
|
NM_001849.4(COL6A2):c.2670G>A (p.Val890=)
|
|
|
NM_001849.4(COL6A2):c.267G>A (p.Gln89=)
|
|
|
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2706C>T (p.His902=)
|
|
|
NM_001849.4(COL6A2):c.2718G>A (p.Glu906=)
|
|
|
NM_001849.4(COL6A2):c.2751G>A (p.Val917=)
|
rs111341650
|
|
NM_001849.4(COL6A2):c.27C>T (p.Leu9=)
|
|
|
NM_001849.4(COL6A2):c.2811G>A (p.Arg937=)
|
rs200652329
|
|
NM_001849.4(COL6A2):c.2820A>G (p.Ala940=)
|
rs769894173
|
|
NM_001849.4(COL6A2):c.2826G>A (p.Leu942=)
|
rs768497480
|
|
NM_001849.4(COL6A2):c.2826G>C (p.Leu942=)
|
rs768497480
|
|
NM_001849.4(COL6A2):c.2828C>T (p.Ser943Phe)
|
|
|
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)
|
rs111630733
|
|
NM_001849.4(COL6A2):c.2856G>C (p.Thr952=)
|
rs138074469
|
|
NM_001849.4(COL6A2):c.2871G>C (p.Leu957=)
|
rs548194162
|
|
NM_001849.4(COL6A2):c.2874C>G (p.His958Gln)
|
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2880G>T (p.Ser960=)
|
|
|
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
|
|
|
NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)
|
|
|
NM_001849.4(COL6A2):c.291C>T (p.Gly97=)
|
rs1007921670
|
|
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=)
|
rs2078774154
|
|
NM_001849.4(COL6A2):c.2928G>A (p.Leu976=)
|
|
|
NM_001849.4(COL6A2):c.2932A>T (p.Ser978Cys)
|
|
|
NM_001849.4(COL6A2):c.2940G>A (p.Val980=)
|
rs886044694
|
|
NM_001849.4(COL6A2):c.2943C>T (p.Asp981=)
|
|
|
NM_001849.4(COL6A2):c.2961G>T (p.Thr987=)
|
rs149845431
|
|
NM_001849.4(COL6A2):c.2988G>T (p.Val996=)
|
|
|
NM_001849.4(COL6A2):c.2991C>T (p.Phe997=)
|
rs1555877365
|
|
NM_001849.4(COL6A2):c.2997G>A (p.Glu999=)
|
rs751494076
|
|
NM_001849.4(COL6A2):c.300C>T (p.His100=)
|
rs765941470
|
|
NM_001849.4(COL6A2):c.3013C>T (p.Leu1005=)
|
rs2123456173
|
|
NM_001849.4(COL6A2):c.3033C>T (p.Phe1011=)
|
|
|
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys)
|
rs762516507
|
|
NM_001849.4(COL6A2):c.3044T>C (p.Ile1015Thr)
|
|
|
NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)
|
|
|
NM_001849.4(COL6A2):c.312G>A (p.Gln104=)
|
|
|
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
|
|
|
NM_001849.4(COL6A2):c.345G>A (p.Arg115=)
|
rs138007666
|
|
NM_001849.4(COL6A2):c.393C>T (p.Gly131=)
|
|
|
NM_001849.4(COL6A2):c.396C>T (p.Thr132=)
|
|
|
NM_001849.4(COL6A2):c.399C>T (p.Phe133=)
|
rs547695695
|
|
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met)
|
rs866311790
|
|
NM_001849.4(COL6A2):c.486C>T (p.Asp162=)
|
|
|
NM_001849.4(COL6A2):c.513G>A (p.Gly171=)
|
rs1291272464
|
|
NM_001849.4(COL6A2):c.564C>T (p.Phe188=)
|
|
|
NM_001849.4(COL6A2):c.586C>T (p.Leu196=)
|
rs1222208626
|
|
NM_001849.4(COL6A2):c.588G>A (p.Leu196=)
|
|
|
NM_001849.4(COL6A2):c.627C>T (p.His209=)
|
rs545218705
|
|
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)
|
rs563449281
|
|
NM_001849.4(COL6A2):c.678C>T (p.Ile226=)
|
|
|
NM_001849.4(COL6A2):c.702C>T (p.Ile234=)
|
rs1369161493
|
|
NM_001849.4(COL6A2):c.708G>A (p.Lys236=)
|
|
|
NM_001849.4(COL6A2):c.714+18G>A
|
|
|
NM_001849.4(COL6A2):c.714+8G>A
|
rs1489436620
|
|
NM_001849.4(COL6A2):c.714+8G>T
|
|
|
NM_001849.4(COL6A2):c.715-14T>C
|
|
|
NM_001849.4(COL6A2):c.715-18T>C
|
|
|
NM_001849.4(COL6A2):c.736-8C>T
|
|
|
NM_001849.4(COL6A2):c.75C>T (p.Val25=)
|
rs2078398447
|
|
NM_001849.4(COL6A2):c.780C>T (p.Pro260=)
|
rs1021304559
|
|
NM_001849.4(COL6A2):c.802-9T>C
|
|
|
NM_001849.4(COL6A2):c.837T>A (p.Pro279=)
|
|
|
NM_001849.4(COL6A2):c.852A>G (p.Arg284=)
|
|
|
NM_001849.4(COL6A2):c.855+16C>T
|
|
|
NM_001849.4(COL6A2):c.856-15C>T
|
|
|
NM_001849.4(COL6A2):c.856-9C>T
|
|
|
NM_001849.4(COL6A2):c.896C>A (p.Pro299His)
|
|
|
NM_001849.4(COL6A2):c.901-10C>T
|
rs754039292
|
|
NM_001849.4(COL6A2):c.901-11_901-9del
|
|
|
NM_001849.4(COL6A2):c.901-20C>T
|
|
|
NM_001849.4(COL6A2):c.927+12G>T
|
|
|
NM_001849.4(COL6A2):c.927+14C>T
|
|
|
NM_001849.4(COL6A2):c.927+16T>C
|
rs2123627287
|
|
NM_001849.4(COL6A2):c.927+9_927+21del
|
rs2123627262
|
|
NM_001849.4(COL6A2):c.928-11C>T
|
|
|
NM_001849.4(COL6A2):c.928-11del
|
rs2123628057
|
|
NM_001849.4(COL6A2):c.928-18G>A
|
|
|
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
|
|
|
NM_001849.4(COL6A2):c.948T>C (p.Gly316=)
|
rs764665426
|
|
NM_001849.4(COL6A2):c.954+14G>A
|
rs2123628304
|
|
NM_001849.4(COL6A2):c.954+8G>A
|
rs1377719373
|
|
NM_001849.4(COL6A2):c.955-15T>G
|
|
|
NM_001849.4(COL6A2):c.955-19C>T
|
|
|
NM_001849.4(COL6A2):c.990T>C (p.Asp330=)
|
|
|
NM_001849.4(COL6A2):c.999+12C>T
|
|
|
NM_001849.4(COL6A2):c.999+15G>C
|
|
|
NM_001849.4(COL6A2):c.999+18C>T
|
|
|