ClinVar Miner

List of variants in gene COL6A3 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 753
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HGVS dbSNP
NM_004369.3(COL6A3):c.*7G>C rs4663722
NM_004369.3(COL6A3):c.*7G>T
NM_004369.3(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222
NM_004369.3(COL6A3):c.1007G>A (p.Arg336Gln) rs745667305
NM_004369.3(COL6A3):c.1022G>A (p.Arg341His) rs140510298
NM_004369.3(COL6A3):c.1022G>T (p.Arg341Leu) rs140510298
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1035G>A (p.Gly345=) rs886044426
NM_004369.3(COL6A3):c.1045G>T (p.Val349Leu) rs1464663206
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1065C>T (p.Ala355=) rs115155458
NM_004369.3(COL6A3):c.1066G>A (p.Gly356Arg)
NM_004369.3(COL6A3):c.1077T>C (p.Ser359=) rs886044010
NM_004369.3(COL6A3):c.107C>T (p.Ala36Val) rs572020866
NM_004369.3(COL6A3):c.1080C>T (p.Asp360=) rs762463347
NM_004369.3(COL6A3):c.1087C>T (p.Arg363Cys) rs759280111
NM_004369.3(COL6A3):c.1088G>A (p.Arg363His) rs776329513
NM_004369.3(COL6A3):c.108G>T (p.Ala36=) rs374055173
NM_004369.3(COL6A3):c.1095G>C (p.Gly365=) rs535498742
NM_004369.3(COL6A3):c.1120G>A (p.Val374Met) rs780353083
NM_004369.3(COL6A3):c.1131C>T (p.Phe377=) rs189772397
NM_004369.3(COL6A3):c.1146G>A (p.Gln382=) rs368800027
NM_004369.3(COL6A3):c.1147G>A (p.Ala383Thr) rs146429448
NM_004369.3(COL6A3):c.1150G>A (p.Ala384Thr) rs374267444
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.118_120ATA[1] (p.Ile41del) rs886042334
NM_004369.3(COL6A3):c.11A>T (p.His4Leu) rs777465480
NM_004369.3(COL6A3):c.1208C>T (p.Pro403Leu) rs547651808
NM_004369.3(COL6A3):c.1214T>C (p.Phe405Ser) rs114549120
NM_004369.3(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175
NM_004369.3(COL6A3):c.1217G>A (p.Arg406His) rs753651742
NM_004369.3(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1248G>A (p.Leu416=) rs150219857
NM_004369.3(COL6A3):c.124T>G (p.Phe42Val) rs1559280207
NM_004369.3(COL6A3):c.1263C>T (p.Gly421=) rs775821966
NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) rs114511558
NM_004369.3(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928
NM_004369.3(COL6A3):c.1293G>A (p.Pro431=) rs376912950
NM_004369.3(COL6A3):c.1313-17A>G rs7579816
NM_004369.3(COL6A3):c.1322T>C (p.Val441Ala) rs886042403
NM_004369.3(COL6A3):c.1327A>G (p.Lys443Glu) rs886043683
NM_004369.3(COL6A3):c.1350G>A (p.Val450=) rs886043010
NM_004369.3(COL6A3):c.1370G>T (p.Gly457Val) rs377757978
NM_004369.3(COL6A3):c.1385A>G (p.Asn462Ser) rs200250810
NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) rs112896869
NM_004369.3(COL6A3):c.1394G>A (p.Arg465Gln) rs781231935
NM_004369.3(COL6A3):c.1432G>A (p.Gly478Arg) rs777693832
NM_004369.3(COL6A3):c.1471G>C (p.Asp491His) rs112010940
NM_004369.3(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824
NM_004369.3(COL6A3):c.1478T>C (p.Val493Ala) rs116794756
NM_004369.3(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215
NM_004369.3(COL6A3):c.1513A>G (p.Lys505Glu) rs886044230
NM_004369.3(COL6A3):c.1514A>T (p.Lys505Ile) rs747914812
NM_004369.3(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556
NM_004369.3(COL6A3):c.1557C>T (p.Asp519=) rs145586177
NM_004369.3(COL6A3):c.1558G>A (p.Gly520Ser) rs776270797
NM_004369.3(COL6A3):c.1562C>T (p.Ser521Leu) rs115881121
NM_004369.3(COL6A3):c.1572C>T (p.Tyr524=) rs115973206
NM_004369.3(COL6A3):c.1587A>G (p.Leu529=) rs574912582
NM_004369.3(COL6A3):c.1598G>C (p.Arg533Pro) rs764614021
NM_004369.3(COL6A3):c.1605C>T (p.Asn535=) rs763426415
NM_004369.3(COL6A3):c.1620A>G (p.Ser540=) rs200205650
NM_004369.3(COL6A3):c.1623C>T (p.Ala541=) rs114144694
NM_004369.3(COL6A3):c.1638C>T (p.Ala546=) rs112040282
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.1740T>G (p.Phe580Leu) rs1553562483
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) rs34978064
NM_004369.3(COL6A3):c.1762G>A (p.Asp588Asn) rs886043408
NM_004369.3(COL6A3):c.1785C>T (p.Ile595=) rs114278376
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1795_1796delinsAT (p.Ser599Ile) rs886043319
NM_004369.3(COL6A3):c.1826G>A (p.Arg609Gln)
NM_004369.3(COL6A3):c.1829C>T (p.Ala610Val) rs1273141104
NM_004369.3(COL6A3):c.1846A>G (p.Met616Val) rs886043993
NM_004369.3(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185
NM_004369.3(COL6A3):c.1872C>A (p.Leu624=) rs886044014
NM_004369.3(COL6A3):c.188A>G (p.Tyr63Cys) rs886043105
NM_004369.3(COL6A3):c.1897+3A>G
NM_004369.3(COL6A3):c.1898-5T>C rs373563217
NM_004369.3(COL6A3):c.1914G>A (p.Arg638=) rs34904623
NM_004369.3(COL6A3):c.1920C>A (p.Ile640=) rs988504831
NM_004369.3(COL6A3):c.1939T>A (p.Ser647Thr) rs777409908
NM_004369.3(COL6A3):c.1948G>A (p.Val650Ile) rs149187225
NM_004369.3(COL6A3):c.1958C>A (p.Thr653Asn)
NM_004369.3(COL6A3):c.1961A>G (p.Asn654Ser) rs144501019
NM_004369.3(COL6A3):c.1971T>C (p.Tyr657=) rs970623100
NM_004369.3(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.1977C>T (p.Arg659=) rs141280228
NM_004369.3(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2030G>T (p.Arg677Leu) rs35227432
NM_004369.3(COL6A3):c.2035G>T (p.Gly679Cys)
NM_004369.3(COL6A3):c.2068G>A (p.Glu690Lys)
NM_004369.3(COL6A3):c.2083A>G (p.Thr695Ala) rs1559258597
NM_004369.3(COL6A3):c.2086T>C (p.Tyr696His)
NM_004369.3(COL6A3):c.2094C>T (p.Thr698=) rs1559258559
NM_004369.3(COL6A3):c.2145G>A (p.Ser715=) rs375924639
NM_004369.3(COL6A3):c.2145G>T (p.Ser715=)
NM_004369.3(COL6A3):c.2146G>A (p.Gly716Ser) rs1559258438
NM_004369.3(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259
NM_004369.3(COL6A3):c.2180A>C (p.Tyr727Ser) rs113393241
NM_004369.3(COL6A3):c.2196G>A (p.Thr732=) rs768242367
NM_004369.3(COL6A3):c.2205C>T (p.Gly735=) rs148713779
NM_004369.3(COL6A3):c.2206G>A (p.Gly736Ser) rs150008830
NM_004369.3(COL6A3):c.2218C>T (p.Arg740Cys) rs147182340
NM_004369.3(COL6A3):c.2219G>A (p.Arg740His) rs529827991
NM_004369.3(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304
NM_004369.3(COL6A3):c.2232G>A (p.Pro744=) rs368826874
NM_004369.3(COL6A3):c.2261A>G (p.Gln754Arg) rs762752112
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2303G>A (p.Arg768His) rs575412915
NM_004369.3(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863
NM_004369.3(COL6A3):c.2306C>T (p.Ala769Val) rs753966526
NM_004369.3(COL6A3):c.2324G>T (p.Cys775Phe) rs756337970
NM_004369.3(COL6A3):c.2343G>A (p.Ala781=) rs561804945
NM_004369.3(COL6A3):c.2350G>A (p.Ala784Thr) rs765006452
NM_004369.3(COL6A3):c.2354A>C (p.Glu785Ala) rs1312895317
NM_004369.3(COL6A3):c.2367T>A (p.Ile789=) rs886043400
NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945
NM_004369.3(COL6A3):c.2444C>A (p.Pro815His) rs199601240
NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) rs115387170
NM_004369.3(COL6A3):c.2487C>T (p.Leu829=) rs752530417
NM_004369.3(COL6A3):c.2488G>A (p.Ala830Thr) rs77181645
NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.2497+9C>A rs774198344
NM_004369.3(COL6A3):c.2497+9C>T rs774198344
NM_004369.3(COL6A3):c.2507G>T (p.Arg836Leu) rs763810209
NM_004369.3(COL6A3):c.2525T>C (p.Phe842Ser) rs369930821
NM_004369.3(COL6A3):c.2529C>T (p.Asp843=) rs556079869
NM_004369.3(COL6A3):c.252C>T (p.Asn84=) rs765786832
NM_004369.3(COL6A3):c.2544T>C (p.Leu848=) rs1559255804
NM_004369.3(COL6A3):c.2561T>C (p.Val854Ala)
NM_004369.3(COL6A3):c.2600A>T (p.Asn867Ile) rs751459281
NM_004369.3(COL6A3):c.2613G>A (p.Glu871=) rs1559255553
NM_004369.3(COL6A3):c.2627C>T (p.Ala876Val)
NM_004369.3(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736
NM_004369.3(COL6A3):c.2730G>A (p.Thr910=)
NM_004369.3(COL6A3):c.273C>T (p.Phe91=) rs886042867
NM_004369.3(COL6A3):c.2754C>T (p.Tyr918=) rs114492689
NM_004369.3(COL6A3):c.2756C>T (p.Ala919Val) rs115327470
NM_004369.3(COL6A3):c.2808C>T (p.Ile936=) rs116256579
NM_004369.3(COL6A3):c.2845G>A (p.Ala949Thr)
NM_004369.3(COL6A3):c.284C>T (p.Thr95Met) rs769697782
NM_004369.3(COL6A3):c.285G>A (p.Thr95=) rs373435541
NM_004369.3(COL6A3):c.2863C>T (p.Arg955Cys) rs886043736
NM_004369.3(COL6A3):c.2864G>A (p.Arg955His) rs112172548
NM_004369.3(COL6A3):c.2909C>G (p.Pro970Arg) rs886044591
NM_004369.3(COL6A3):c.290G>A (p.Arg97His) rs201249839
NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) rs76646066
NM_004369.3(COL6A3):c.2932G>A (p.Ala978Thr) rs768292803
NM_004369.3(COL6A3):c.2952G>C (p.Glu984Asp) rs1553561212
NM_004369.3(COL6A3):c.2972C>A (p.Ala991Glu)
NM_004369.3(COL6A3):c.2977A>G (p.Ile993Val) rs886042763
NM_004369.3(COL6A3):c.2984C>T (p.Ala995Val) rs886042163
NM_004369.3(COL6A3):c.2985_2988del (p.Ala996fs) rs1559253935
NM_004369.3(COL6A3):c.2994G>A (p.Ser998=) rs768233315
NM_004369.3(COL6A3):c.29T>C (p.Val10Ala)
NM_004369.3(COL6A3):c.3008G>A (p.Gly1003Glu) rs775536678
NM_004369.3(COL6A3):c.3040A>C (p.Lys1014Gln)
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3045A>G (p.Ser1015=) rs886042836
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069
NM_004369.3(COL6A3):c.3063A>G (p.Pro1021=) rs200098134
NM_004369.3(COL6A3):c.3067C>T (p.Pro1023Ser) rs556864605
NM_004369.3(COL6A3):c.3071-16G>A rs73998896
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3088G>A (p.Val1030Met) rs116238578
NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077
NM_004369.3(COL6A3):c.3129C>T (p.Gly1043=) rs12622093
NM_004369.3(COL6A3):c.3138G>T (p.Leu1046=) rs780402445
NM_004369.3(COL6A3):c.3141G>C (p.Leu1047Phe) rs746229521
NM_004369.3(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.3(COL6A3):c.3178G>A (p.Val1060Met) rs1277217858
NM_004369.3(COL6A3):c.3187G>A (p.Asp1063Asn) rs760543147
NM_004369.3(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3198C>T (p.Arg1066=) rs200621867
NM_004369.3(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814
NM_004369.3(COL6A3):c.3223C>A (p.Arg1075=) rs201962257
NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257
NM_004369.3(COL6A3):c.3228C>G (p.Thr1076=) rs886042997
NM_004369.3(COL6A3):c.3238T>A (p.Phe1080Ile) rs761490778
NM_004369.3(COL6A3):c.3256A>G (p.Met1086Val) rs1559250887
NM_004369.3(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3279C>T (p.Asn1093=)
NM_004369.3(COL6A3):c.3287G>A (p.Arg1096His) rs200860322
NM_004369.3(COL6A3):c.3318C>T (p.Pro1106=) rs1200436620
NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) rs116239777
NM_004369.3(COL6A3):c.3331G>A (p.Ala1111Thr) rs151021451
NM_004369.3(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921
NM_004369.3(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.3445C>T (p.Arg1149Trp) rs113360085
NM_004369.3(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562
NM_004369.3(COL6A3):c.3462C>T (p.Val1154=) rs762152367
NM_004369.3(COL6A3):c.3475G>C (p.Gly1159Arg) rs146313030
NM_004369.3(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) rs137910388
NM_004369.3(COL6A3):c.34G>T (p.Val12Phe) rs137910388
NM_004369.3(COL6A3):c.3501C>T (p.Ile1167=) rs199998363
NM_004369.3(COL6A3):c.3507C>T (p.Asn1169=) rs138426138
NM_004369.3(COL6A3):c.3555C>T (p.Ala1185=) rs373719229
NM_004369.3(COL6A3):c.3569C>A (p.Thr1190Asn) rs369994205
NM_004369.3(COL6A3):c.3588C>T (p.Thr1196=) rs1434102843
NM_004369.3(COL6A3):c.3589G>A (p.Val1197Ile) rs748053172
NM_004369.3(COL6A3):c.3595C>G (p.Gln1199Glu) rs886042510
NM_004369.3(COL6A3):c.3619C>A (p.Gln1207Lys) rs886042393
NM_004369.3(COL6A3):c.3624C>T (p.Leu1208=)
NM_004369.3(COL6A3):c.3629G>A (p.Arg1210His)
NM_004369.3(COL6A3):c.3630C>T (p.Arg1210=) rs757349824
NM_004369.3(COL6A3):c.3664C>T (p.Pro1222Ser) rs1553560314
NM_004369.3(COL6A3):c.3680-4G>A rs376123972
NM_004369.3(COL6A3):c.3680-5C>T rs370146203
NM_004369.3(COL6A3):c.3699C>T (p.Asp1233=) rs542411896
NM_004369.3(COL6A3):c.3715G>A (p.Asp1239Asn) rs563617159
NM_004369.3(COL6A3):c.3732C>T (p.Ala1244=) rs193265138
NM_004369.3(COL6A3):c.3741G>C (p.Glu1247Asp) rs577927810
NM_004369.3(COL6A3):c.374T>C (p.Ile125Thr) rs886044375
NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208
NM_004369.3(COL6A3):c.3754C>T (p.Arg1252Cys) rs563530370
NM_004369.3(COL6A3):c.3755G>A (p.Arg1252His) rs201314411
NM_004369.3(COL6A3):c.3760C>T (p.Leu1254Phe) rs886044373
NM_004369.3(COL6A3):c.3810G>T (p.Arg1270=) rs886042792
NM_004369.3(COL6A3):c.3831C>T (p.Ser1277=) rs114110705
NM_004369.3(COL6A3):c.3832G>A (p.Asp1278Asn)
NM_004369.3(COL6A3):c.3837C>A (p.Asp1279Glu) rs372089952
NM_004369.3(COL6A3):c.3841A>G (p.Lys1281Glu) rs886043888
NM_004369.3(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.3(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.3(COL6A3):c.3859A>T (p.Asn1287Tyr) rs35799634
NM_004369.3(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496
NM_004369.3(COL6A3):c.3894G>A (p.Ala1298=) rs777277026
NM_004369.3(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813
NM_004369.3(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440
NM_004369.3(COL6A3):c.3909G>T (p.Arg1303Ser) rs1559245709
NM_004369.3(COL6A3):c.3923G>A (p.Arg1308Gln) rs774461787
NM_004369.3(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625
NM_004369.3(COL6A3):c.3934G>A (p.Val1312Met) rs144878757
NM_004369.3(COL6A3):c.3944C>T (p.Ala1315Val) rs778458923
NM_004369.3(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800
NM_004369.3(COL6A3):c.3982C>T (p.Leu1328=) rs727503885
NM_004369.3(COL6A3):c.3991C>T (p.Arg1331Cys)
NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) rs34503558
NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775
NM_004369.3(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.3(COL6A3):c.4032G>A (p.Ser1344=) rs145048734
NM_004369.3(COL6A3):c.4047C>T (p.Asp1349=) rs115893145
NM_004369.3(COL6A3):c.4065G>A (p.Pro1355=) rs766856187
NM_004369.3(COL6A3):c.4066G>A (p.Ala1356Thr)
NM_004369.3(COL6A3):c.4090G>A (p.Val1364Met) rs35524572
NM_004369.3(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603
NM_004369.3(COL6A3):c.4104G>A (p.Thr1368=) rs777649526
NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) rs35114079
NM_004369.3(COL6A3):c.410G>A (p.Arg137Gln) rs779126378
NM_004369.3(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.4124del (p.Gln1375fs) rs886042447
NM_004369.3(COL6A3):c.4141A>T (p.Ile1381Phe) rs750951694
NM_004369.3(COL6A3):c.4146G>A (p.Ser1382=) rs114791158
NM_004369.3(COL6A3):c.4146G>T (p.Ser1382=)
NM_004369.3(COL6A3):c.414C>T (p.Ala138=) rs148996231
NM_004369.3(COL6A3):c.4155C>T (p.Pro1385=)
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.415G>A (p.Gly139Ser) rs749386499
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4178C>G (p.Thr1393Ser) rs1559244559
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4197C>A (p.Ser1399Arg)
NM_004369.3(COL6A3):c.4199T>A (p.Leu1400Gln) rs1210132500
NM_004369.3(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998
NM_004369.3(COL6A3):c.421G>A (p.Gly141Arg) rs398124120
NM_004369.3(COL6A3):c.4227G>A (p.Thr1409=) rs142938239
NM_004369.3(COL6A3):c.4234A>T (p.Thr1412Ser) rs764522621
NM_004369.3(COL6A3):c.4239A>G (p.Ser1413=)
NM_004369.3(COL6A3):c.4252A>G (p.Lys1418Glu) rs1367588379
NM_004369.3(COL6A3):c.4252_4254del (p.Lys1418del) rs886043395
NM_004369.3(COL6A3):c.4257C>G (p.Leu1419=) rs145889244
NM_004369.3(COL6A3):c.426C>T (p.Val142=)
NM_004369.3(COL6A3):c.4271G>A (p.Arg1424His) rs149838946
NM_004369.3(COL6A3):c.4285+17G>A rs3791000
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743
NM_004369.3(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.3(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.3(COL6A3):c.4366C>T (p.Arg1456Ter) rs781043870
NM_004369.3(COL6A3):c.438C>T (p.Ile146=) rs781449958
NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094
NM_004369.3(COL6A3):c.4404C>T (p.Ile1468=)
NM_004369.3(COL6A3):c.4413T>C (p.Ser1471=) rs772068886
NM_004369.3(COL6A3):c.4423G>T (p.Val1475Phe) rs886042375
NM_004369.3(COL6A3):c.4425T>C (p.Val1475=) rs779603740
NM_004369.3(COL6A3):c.4431C>T (p.Val1477=) rs151289203
NM_004369.3(COL6A3):c.4436A>T (p.Gln1479Leu) rs369449472
NM_004369.3(COL6A3):c.4448A>T (p.Asp1483Val) rs114736729
NM_004369.3(COL6A3):c.4491C>T (p.Ala1497=) rs558665283
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4504G>T (p.Ala1502Ser)
NM_004369.3(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.3(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.3(COL6A3):c.4524C>G (p.Leu1508=) rs755902927
NM_004369.3(COL6A3):c.4533G>T (p.Gly1511=) rs2645774
NM_004369.3(COL6A3):c.4603C>T (p.Arg1535Cys) rs752225290
NM_004369.3(COL6A3):c.4608A>G (p.Ile1536Met)
NM_004369.3(COL6A3):c.461C>T (p.Ser154Leu) rs147701785
NM_004369.3(COL6A3):c.4662C>T (p.Asp1554=) rs764225803
NM_004369.3(COL6A3):c.4663G>A (p.Asp1555Asn) rs763162762
NM_004369.3(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952
NM_004369.3(COL6A3):c.4671C>T (p.Ser1557=) rs116760648
NM_004369.3(COL6A3):c.4677C>T (p.Phe1559=) rs147215386
NM_004369.3(COL6A3):c.4678G>A (p.Ala1560Thr) rs371631320
NM_004369.3(COL6A3):c.467A>C (p.Asp156Ala) rs150972216
NM_004369.3(COL6A3):c.4683G>A (p.Gln1561=) rs113074898
NM_004369.3(COL6A3):c.4689C>G (p.Ile1563Met) rs201178064
NM_004369.3(COL6A3):c.4690C>G (p.Arg1564Gly) rs200825417
NM_004369.3(COL6A3):c.4697C>T (p.Ser1566Leu) rs752785838
NM_004369.3(COL6A3):c.4726C>T (p.Arg1576Trp) rs773979979
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.4765G>A (p.Asp1589Asn)
NM_004369.3(COL6A3):c.4786G>T (p.Val1596Leu) rs886042267
NM_004369.3(COL6A3):c.4835C>A (p.Ser1612Ter) rs201532239
NM_004369.3(COL6A3):c.4835C>T (p.Ser1612Leu) rs201532239
NM_004369.3(COL6A3):c.4844C>A (p.Pro1615His) rs886044653
NM_004369.3(COL6A3):c.4848C>T (p.Ser1616=) rs200948078
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.4849G>T (p.Ala1617Ser)
NM_004369.3(COL6A3):c.4873G>A (p.Val1625Met) rs398124121
NM_004369.3(COL6A3):c.4888C>T (p.Pro1630Ser) rs145560772
NM_004369.3(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.4900+10G>A rs189411873
NM_004369.3(COL6A3):c.4900+9C>T rs117345850
NM_004369.3(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004369.3(COL6A3):c.4978C>T (p.Arg1660Cys) rs1553556695
NM_004369.3(COL6A3):c.4984G>T (p.Val1662Leu) rs886043879
NM_004369.3(COL6A3):c.5010T>A (p.Tyr1670Ter) rs886042402
NM_004369.3(COL6A3):c.5019C>T (p.Gly1673=) rs140516220
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032
NM_004369.3(COL6A3):c.5085C>G (p.Asp1695Glu) rs886044181
NM_004369.3(COL6A3):c.5095A>C (p.Lys1699Gln) rs1311406995
NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) rs34340053
NM_004369.3(COL6A3):c.5113G>A (p.Ala1705Thr) rs886042488
NM_004369.3(COL6A3):c.5118C>T (p.Ile1706=) rs766291321
NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) rs114338020
NM_004369.3(COL6A3):c.5148C>T (p.His1716=) rs114845780
NM_004369.3(COL6A3):c.5170G>A (p.Glu1724Lys) rs398124122
NM_004369.3(COL6A3):c.5180G>A (p.Arg1727Gln)
NM_004369.3(COL6A3):c.5203G>T (p.Ala1735Ser) rs886044189
NM_004369.3(COL6A3):c.5213G>A (p.Arg1738His) rs774808500
NM_004369.3(COL6A3):c.5225G>A (p.Arg1742Gln) rs886042855
NM_004369.3(COL6A3):c.5253G>A (p.Thr1751=) rs886043174
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.5296C>G (p.Leu1766Val) rs886043939
NM_004369.3(COL6A3):c.5315A>G (p.Lys1772Arg)
NM_004369.3(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965
NM_004369.3(COL6A3):c.5378G>A (p.Ser1793Asn) rs886042944
NM_004369.3(COL6A3):c.5379C>T (p.Ser1793=)
NM_004369.3(COL6A3):c.5387C>T (p.Ala1796Val)
NM_004369.3(COL6A3):c.5392C>T (p.Arg1798Cys) rs886044508
NM_004369.3(COL6A3):c.5393G>A (p.Arg1798His) rs371441617
NM_004369.3(COL6A3):c.5394C>T (p.Arg1798=) rs202086524
NM_004369.3(COL6A3):c.5403C>T (p.Asn1801=) rs114357878
NM_004369.3(COL6A3):c.5418C>T (p.Ser1806=) rs398124123
NM_004369.3(COL6A3):c.5426G>A (p.Ser1809Asn) rs1553556280
NM_004369.3(COL6A3):c.543T>C (p.Asp181=) rs898779231
NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542
NM_004369.3(COL6A3):c.5501-4C>G rs143237699
NM_004369.3(COL6A3):c.550G>A (p.Ala184Thr) rs767499336
NM_004369.3(COL6A3):c.5522T>C (p.Leu1841Pro) rs886043336
NM_004369.3(COL6A3):c.5522T>G (p.Leu1841Arg) rs886043336
NM_004369.3(COL6A3):c.5525G>A (p.Gly1842Glu) rs886042678
NM_004369.3(COL6A3):c.552G>A (p.Ala184=) rs542204130
NM_004369.3(COL6A3):c.5534G>T (p.Gly1845Val) rs747200439
NM_004369.3(COL6A3):c.5542G>T (p.Asp1848Tyr)
NM_004369.3(COL6A3):c.5555T>C (p.Phe1852Ser) rs148488423
NM_004369.3(COL6A3):c.5575G>A (p.Glu1859Lys) rs886043180
NM_004369.3(COL6A3):c.5590G>A (p.Ala1864Thr) rs756521643
NM_004369.3(COL6A3):c.5607C>T (p.Ile1869=) rs751159969
NM_004369.3(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083
NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.5622G>A (p.Arg1874=) rs886044022
NM_004369.3(COL6A3):c.5632A>C (p.Ser1878Arg)
NM_004369.3(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro) rs1559234936
NM_004369.3(COL6A3):c.5634C>T (p.Ser1878=) rs770825082
NM_004369.3(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443
NM_004369.3(COL6A3):c.5645C>T (p.Ser1882Leu) rs368943871
NM_004369.3(COL6A3):c.5649C>A (p.Pro1883=) rs886044430
NM_004369.3(COL6A3):c.5652C>T (p.Thr1884=) rs200285455
NM_004369.3(COL6A3):c.5680C>T (p.Pro1894Ser) rs112540218
NM_004369.3(COL6A3):c.5684C>T (p.Ser1895Leu) rs760532694
NM_004369.3(COL6A3):c.5712C>T (p.Asp1904=) rs151234107
NM_004369.3(COL6A3):c.5734G>A (p.Glu1912Lys) rs113251155
NM_004369.3(COL6A3):c.5750T>C (p.Met1917Thr) rs398124124
NM_004369.3(COL6A3):c.575C>T (p.Pro192Leu) rs563800854
NM_004369.3(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.5822C>T (p.Ser1941Leu) rs778288464
NM_004369.3(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150
NM_004369.3(COL6A3):c.5826G>A (p.Pro1942=)
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.5838+5G>A rs1553555753
NM_004369.3(COL6A3):c.5839-3C>T rs112825341
NM_004369.3(COL6A3):c.5893G>C (p.Ala1965Pro) rs1364239110
NM_004369.3(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_004369.3(COL6A3):c.5910C>T (p.Arg1970=) rs727503884
NM_004369.3(COL6A3):c.5917+28G>C rs73093737
NM_004369.3(COL6A3):c.592T>G (p.Phe198Val) rs754618002
NM_004369.3(COL6A3):c.5953G>A (p.Val1985Met) rs200478135
NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544
NM_004369.3(COL6A3):c.5969G>A (p.Arg1990Gln) rs780489910
NM_004369.3(COL6A3):c.5993G>A (p.Arg1998Gln) rs767725940
NM_004369.3(COL6A3):c.6040G>T (p.Asp2014Tyr) rs376548186
NM_004369.3(COL6A3):c.6045T>C (p.Tyr2015=) rs148877230
NM_004369.3(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695
NM_004369.3(COL6A3):c.6063+13dupT rs11385011
NM_004369.3(COL6A3):c.6063+8T>G rs1171003491
NM_004369.3(COL6A3):c.6064-2A>G rs1553554384
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6066C>T (p.Asp2022=) rs886044237
NM_004369.3(COL6A3):c.6132G>T (p.Gly2044=) rs762950440
NM_004369.3(COL6A3):c.6138C>T (p.Ile2046=) rs115401779
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.6156+5G>A rs112374074
NM_004369.3(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
NM_004369.3(COL6A3):c.6157-16G>A rs112637114
NM_004369.3(COL6A3):c.6157-2A>C rs886041434
NM_004369.3(COL6A3):c.6157-4T>G rs536696110
NM_004369.3(COL6A3):c.6157G>T (p.Gly2053Cys) rs1559228507
NM_004369.3(COL6A3):c.6159T>C (p.Gly2053=) rs1172901266
NM_004369.3(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.3(COL6A3):c.6175G>T (p.Gly2059Cys) rs758124326
NM_004369.3(COL6A3):c.6180C>T (p.Tyr2060=) rs115130936
NM_004369.3(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6210+5G>T rs886044593
NM_004369.3(COL6A3):c.6211-3C>T rs139622600
NM_004369.3(COL6A3):c.6211-4A>G rs398124127
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.3(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.3(COL6A3):c.6237C>T (p.Asn2079=) rs34390834
NM_004369.3(COL6A3):c.6238G>A (p.Gly2080Ser) rs1553553625
NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.3(COL6A3):c.6255G>A (p.Gln2085=) rs777097924
NM_004369.3(COL6A3):c.6282+1G>A rs398124128
NM_004369.3(COL6A3):c.6282+50C>T rs73998889
NM_004369.3(COL6A3):c.6289C>T (p.Arg2097Trp) rs148252611
NM_004369.3(COL6A3):c.6290G>A (p.Arg2097Gln)
NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.6309+40C>T rs112754810
NM_004369.3(COL6A3):c.6310-28_6325del44 rs1553553267
NM_004369.3(COL6A3):c.6312C>T (p.Gly2104=) rs377074792
NM_004369.3(COL6A3):c.6342G>A (p.Leu2114=) rs886043269
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6354+1G>T rs886042883
NM_004369.3(COL6A3):c.6355-1G>A rs113605136
NM_004369.3(COL6A3):c.6369G>A (p.Leu2123=) rs2646254
NM_004369.3(COL6A3):c.6372T>C (p.Pro2124=) rs894679602
NM_004369.3(COL6A3):c.6408+44A>G rs78398512
NM_004369.3(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126
NM_004369.3(COL6A3):c.6425G>A (p.Arg2142Gln) rs766968738
NM_004369.3(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928
NM_004369.3(COL6A3):c.6519C>T (p.Thr2173=) rs776493521
NM_004369.3(COL6A3):c.6533C>G (p.Pro2178Arg) rs762287373
NM_004369.3(COL6A3):c.6538-4C>T rs886044433
NM_004369.3(COL6A3):c.6592-27delC rs60436236
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
NM_004369.3(COL6A3):c.6622G>T (p.Ala2208Ser) rs398124129
NM_004369.3(COL6A3):c.6628-47G>C rs398124130
NM_004369.3(COL6A3):c.6639C>A (p.Gly2213=)
NM_004369.3(COL6A3):c.6639C>T (p.Gly2213=) rs765837100
NM_004369.3(COL6A3):c.6640G>A (p.Gly2214Ser) rs777454204
NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715
NM_004369.3(COL6A3):c.6654G>A (p.Pro2218=) rs147537071
NM_004369.3(COL6A3):c.6677C>T (p.Thr2226Ile) rs376621780
NM_004369.3(COL6A3):c.6749C>T (p.Pro2250Leu) rs140728855
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6754-9C>G rs886038542
NM_004369.3(COL6A3):c.6768C>T (p.Ala2256=) rs550085228
NM_004369.3(COL6A3):c.6769G>A (p.Ala2257Thr) rs372154635
NM_004369.3(COL6A3):c.6796A>G (p.Thr2266Ala) rs1553550496
NM_004369.3(COL6A3):c.6798C>G (p.Thr2266=)
NM_004369.3(COL6A3):c.6798C>T (p.Thr2266=) rs116541926
NM_004369.3(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513
NM_004369.3(COL6A3):c.6817-5T>C rs794727464
NM_004369.3(COL6A3):c.6817-6G>A rs886042773
NM_004369.3(COL6A3):c.6852C>T (p.Ile2284=) rs374952003
NM_004369.3(COL6A3):c.6855G>C (p.Gly2285=) rs3790993
NM_004369.3(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946
NM_004369.3(COL6A3):c.6869G>A (p.Arg2290His)
NM_004369.3(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131
NM_004369.3(COL6A3):c.686C>T (p.Thr229Met) rs141586922
NM_004369.3(COL6A3):c.6871G>T (p.Gly2291Trp) rs727502836
NM_004369.3(COL6A3):c.6879+49G>A rs398124132
NM_004369.3(COL6A3):c.6879G>A (p.Thr2293=) rs886044656
NM_004369.3(COL6A3):c.6880-47T>C rs2646263
NM_004369.3(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576
NM_004369.3(COL6A3):c.6897C>T (p.Asp2299=) rs764508785
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.6899G>A (p.Gly2300Glu) rs145572916
NM_004369.3(COL6A3):c.6902T>C (p.Val2301Ala)
NM_004369.3(COL6A3):c.6930+28C>T rs72986111
NM_004369.3(COL6A3):c.6930+43G>C rs2646264
NM_004369.3(COL6A3):c.6930+4C>T rs375657891
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) rs2646265
NM_004369.3(COL6A3):c.6957A>G (p.Pro2319=) rs777752945
NM_004369.3(COL6A3):c.6966+10C>G
NM_004369.3(COL6A3):c.6966+4A>C rs373940717
NM_004369.3(COL6A3):c.6972C>A (p.Asn2324Lys)
NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.6973C>A (p.Pro2325Thr) rs886044392
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.7024C>T (p.Arg2342Ter) rs886043113
NM_004369.3(COL6A3):c.7029+10C>T rs376525317
NM_004369.3(COL6A3):c.7029+3A>G rs886044464
NM_004369.3(COL6A3):c.7030-4C>G rs886042395
NM_004369.3(COL6A3):c.7031G>A (p.Gly2344Glu)
NM_004369.3(COL6A3):c.7045C>T (p.Pro2349Ser) rs886044470
NM_004369.3(COL6A3):c.704T>C (p.Ile235Thr) rs886043065
NM_004369.3(COL6A3):c.707C>T (p.Thr236Ile) rs886044270
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.709+8C>T rs779535244
NM_004369.3(COL6A3):c.7092+26G>A rs2270656
NM_004369.3(COL6A3):c.7113C>T (p.Gly2371=) rs375729592
NM_004369.3(COL6A3):c.7114G>A (p.Asp2372Asn) rs142002241
NM_004369.3(COL6A3):c.7123G>A (p.Asp2375Asn) rs778371231
NM_004369.3(COL6A3):c.7158A>G (p.Lys2386=)
NM_004369.3(COL6A3):c.7162+48G>A rs112563876
NM_004369.3(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590
NM_004369.3(COL6A3):c.7174+4A>C rs398124133
NM_004369.3(COL6A3):c.7174G>A (p.Gly2392Arg) rs773673162
NM_004369.3(COL6A3):c.7175-32G>A rs6725567
NM_004369.3(COL6A3):c.7175-6C>A rs199723531
NM_004369.3(COL6A3):c.7175-6C>G rs199723531
NM_004369.3(COL6A3):c.7224C>G (p.Asp2408Glu) rs377084627
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004369.3(COL6A3):c.7264C>G (p.Arg2422Gly) rs878854379
NM_004369.3(COL6A3):c.7265G>A (p.Arg2422Gln) rs748029252
NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) rs116729313
NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=) rs10084221
NM_004369.3(COL6A3):c.7342G>T (p.Val2448Phe) rs768564642
NM_004369.3(COL6A3):c.7357G>A (p.Glu2453Lys) rs886044364
NM_004369.3(COL6A3):c.7359G>A (p.Glu2453=) rs114199044
NM_004369.3(COL6A3):c.7368G>A (p.Thr2456=) rs778474394
NM_004369.3(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956
NM_004369.3(COL6A3):c.7376G>A (p.Arg2459Gln) rs777496872
NM_004369.3(COL6A3):c.7398G>A (p.Lys2466=) rs758223638
NM_004369.3(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773
NM_004369.3(COL6A3):c.7401G>A (p.Ser2467=) rs377572272
NM_004369.3(COL6A3):c.7425C>A (p.Asn2475Lys) rs998223951
NM_004369.3(COL6A3):c.7441A>G (p.Thr2481Ala) rs201467603
NM_004369.3(COL6A3):c.7446C>G (p.Ser2482=) rs1439207088
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7461G>A (p.Leu2487=) rs886044388
NM_004369.3(COL6A3):c.7480G>T (p.Val2494Leu) rs886044163
NM_004369.3(COL6A3):c.74C>A (p.Ala25Asp) rs398124134
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) rs2646258
NM_004369.3(COL6A3):c.7513G>A (p.Gly2505Arg) rs545819982
NM_004369.3(COL6A3):c.7514G>T (p.Gly2505Val) rs794727591
NM_004369.3(COL6A3):c.7542del (p.Phe2515fs) rs886043519
NM_004369.3(COL6A3):c.7551C>T (p.Asn2517=) rs570963533
NM_004369.3(COL6A3):c.7558A>T (p.Thr2520Ser) rs144152285
NM_004369.3(COL6A3):c.7575G>A (p.Gln2525=) rs752232293
NM_004369.3(COL6A3):c.7587T>C (p.Ala2529=) rs1559206457
NM_004369.3(COL6A3):c.758C>A (p.Thr253Asn) rs201283466
NM_004369.3(COL6A3):c.7590G>A (p.Val2530=) rs115591088
NM_004369.3(COL6A3):c.7596G>A (p.Lys2532=) rs2291795
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338
NM_004369.3(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.3(COL6A3):c.7645C>A (p.Arg2549=) rs151079701
NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.3(COL6A3):c.7668+21G>C rs11897148
NM_004369.3(COL6A3):c.7669-35C>T rs59232721
NM_004369.3(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346
NM_004369.3(COL6A3):c.7687G>C (p.Gly2563Arg) rs780964113
NM_004369.3(COL6A3):c.768C>T (p.Val256=) rs79606264
NM_004369.3(COL6A3):c.7695G>T (p.Ala2565=)
NM_004369.3(COL6A3):c.7702C>T (p.Leu2568=) rs201479636
NM_004369.3(COL6A3):c.7706C>G (p.Pro2569Arg) rs794727598
NM_004369.3(COL6A3):c.7728C>T (p.Asp2576=) rs886043891
NM_004369.3(COL6A3):c.7749G>A (p.Thr2583=) rs758582935
NM_004369.3(COL6A3):c.774C>T (p.Phe258=) rs766589204
NM_004369.3(COL6A3):c.7754A>G (p.His2585Arg) rs886043033
NM_004369.3(COL6A3):c.7755T>C (p.His2585=) rs145581705
NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) rs141609058
NM_004369.3(COL6A3):c.7768A>G (p.Ile2590Val) rs372278071
NM_004369.3(COL6A3):c.776C>T (p.Ala259Val) rs149924028
NM_004369.3(COL6A3):c.7777A>T (p.Ile2593Phe) rs755107410
NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) rs144249704
NM_004369.3(COL6A3):c.7796_7797del (p.Phe2599fs) rs886042623
NM_004369.3(COL6A3):c.7832C>T (p.Ala2611Val) rs114806654
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.7843G>A (p.Asp2615Asn) rs145884404
NM_004369.3(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547
NM_004369.3(COL6A3):c.786C>T (p.Leu262=) rs111481402
NM_004369.3(COL6A3):c.7879G>A (p.Ala2627Thr) rs776220123
NM_004369.3(COL6A3):c.7908T>C (p.Asn2636=) rs886044691
NM_004369.3(COL6A3):c.7929G>A (p.Ala2643=) rs4433949
NM_004369.3(COL6A3):c.7937T>C (p.Val2646Ala) rs1559201211
NM_004369.3(COL6A3):c.7953G>A (p.Met2651Ile) rs369537287
NM_004369.3(COL6A3):c.7976A>G (p.Gln2659Arg) rs886044041
NM_004369.3(COL6A3):c.7983C>T (p.Phe2661=) rs375222168
NM_004369.3(COL6A3):c.7993G>T (p.Ala2665Ser) rs1559201034
NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) rs80193928
NM_004369.3(COL6A3):c.8007C>T (p.His2669=) rs528369978
NM_004369.3(COL6A3):c.8008G>A (p.Ala2670Thr) rs398124135
NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023
NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) rs79313758
NM_004369.3(COL6A3):c.802C>T (p.Leu268Phe) rs572430889
NM_004369.3(COL6A3):c.8032G>A (p.Ala2678Thr) rs886044342
NM_004369.3(COL6A3):c.804C>G (p.Leu268=) rs372517103
NM_004369.3(COL6A3):c.8073C>A (p.Asp2691Glu) rs886042689
NM_004369.3(COL6A3):c.8097G>A (p.Val2699=) rs115757876
NM_004369.3(COL6A3):c.8140G>T (p.Ala2714Ser) rs748491825
NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) rs35763271
NM_004369.3(COL6A3):c.8161T>G (p.Tyr2721Asp) rs886044361
NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455
NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=) rs140441798
NM_004369.3(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856
NM_004369.3(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706
NM_004369.3(COL6A3):c.8256G>A (p.Leu2752=) rs769124771
NM_004369.3(COL6A3):c.8270G>C (p.Arg2757Thr) rs746608405
NM_004369.3(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.3(COL6A3):c.8344G>A (p.Glu2782Lys) rs794727603
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8359G>A (p.Ala2787Thr) rs763395740
NM_004369.3(COL6A3):c.8375A>G (p.Asp2792Gly) rs886044347
NM_004369.3(COL6A3):c.8376C>T (p.Asp2792=) rs772967228
NM_004369.3(COL6A3):c.8377G>A (p.Val2793Ile) rs569907876
NM_004369.3(COL6A3):c.8393T>C (p.Val2798Ala) rs749169391
NM_004369.3(COL6A3):c.839G>T (p.Arg280Leu) rs370246962
NM_004369.3(COL6A3):c.8406C>T (p.Thr2802=) rs572018781
NM_004369.3(COL6A3):c.8415C>T (p.Asn2805=) rs375442243
NM_004369.3(COL6A3):c.8428A>C (p.Met2810Leu) rs886043574
NM_004369.3(COL6A3):c.8432G>A (p.Arg2811His) rs769656291
NM_004369.3(COL6A3):c.8436C>T (p.Phe2812=) rs571287679
NM_004369.3(COL6A3):c.843G>T (p.Val281=) rs376201065
NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) rs61729844
NM_004369.3(COL6A3):c.8457C>T (p.Phe2819=) rs138683303
NM_004369.3(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119
NM_004369.3(COL6A3):c.8464+20G>C rs398124136
NM_004369.3(COL6A3):c.8465-34C>T rs113165742
NM_004369.3(COL6A3):c.8465-7delT rs111494366
NM_004369.3(COL6A3):c.8465-7dupT rs111494366
NM_004369.3(COL6A3):c.8465G>A (p.Ser2822Asn) rs1334499975
NM_004369.3(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.3(COL6A3):c.8498G>A (p.Arg2833Lys) rs755510736
NM_004369.3(COL6A3):c.8567+2dup rs776144262
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
NM_004369.3(COL6A3):c.8575C>A (p.Pro2859Thr) rs886042577
NM_004369.3(COL6A3):c.8615C>T (p.Thr2872Met) rs759009226
NM_004369.3(COL6A3):c.861C>T (p.Ser287=) rs756380512
NM_004369.3(COL6A3):c.862G>A (p.Asp288Asn) rs115729513
NM_004369.3(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490
NM_004369.3(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698
NM_004369.3(COL6A3):c.8639C>T (p.Thr2880Met) rs770436761
NM_004369.3(COL6A3):c.8698A>C (p.Ile2900Leu) rs1553544853
NM_004369.3(COL6A3):c.8698A>G (p.Ile2900Val) rs1553544853
NM_004369.3(COL6A3):c.8724C>T (p.Ala2908=) rs114684687
NM_004369.3(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650
NM_004369.3(COL6A3):c.8743G>A (p.Ala2915Thr)
NM_004369.3(COL6A3):c.8744C>T (p.Ala2915Val) rs751532649
NM_004369.3(COL6A3):c.8745G>A (p.Ala2915=) rs112382351
NM_004369.3(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818
NM_004369.3(COL6A3):c.8794C>T (p.Pro2932Ser) rs992204564
NM_004369.3(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669
NM_004369.3(COL6A3):c.8805G>A (p.Ala2935=) rs200111289
NM_004369.3(COL6A3):c.8807T>C (p.Val2936Ala) rs1218467207
NM_004369.3(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456
NM_004369.3(COL6A3):c.8820G>A (p.Thr2940=) rs11683438
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.882C>T (p.Phe294=) rs7561625
NM_004369.3(COL6A3):c.8846C>T (p.Pro2949Leu) rs376021820
NM_004369.3(COL6A3):c.8865C>T (p.Pro2955=) rs199936838
NM_004369.3(COL6A3):c.8865_8867del (p.Ala2960del)
NM_004369.3(COL6A3):c.8868_8870TGC[3] (p.Ala2960del) rs35879189
NM_004369.3(COL6A3):c.8868_8870TGC[5] (p.Ala2960dup) rs35879189
NM_004369.3(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743
NM_004369.3(COL6A3):c.8924C>T (p.Ala2975Val) rs557120711
NM_004369.3(COL6A3):c.893C>T (p.Thr298Ile) rs776043658
NM_004369.3(COL6A3):c.8962A>G (p.Met2988Val) rs11690358
NM_004369.3(COL6A3):c.8966-1G>C rs767517186
NM_004369.3(COL6A3):c.8966-3C>A rs190667494
NM_004369.3(COL6A3):c.8970G>A (p.Lys2990=) rs113721676
NM_004369.3(COL6A3):c.8974T>A (p.Ser2992Thr) rs886042804
NM_004369.3(COL6A3):c.8978G>A (p.Arg2993His) rs201888442
NM_004369.3(COL6A3):c.898_900del (p.Ser300del) rs554176183
NM_004369.3(COL6A3):c.9005A>G (p.Glu3002Gly) rs747642083
NM_004369.3(COL6A3):c.9012C>T (p.Ser3004=) rs199519571
NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668
NM_004369.3(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669
NM_004369.3(COL6A3):c.9043C>T (p.Pro3015Ser) rs529079748
NM_004369.3(COL6A3):c.9059A>G (p.Tyr3020Cys)
NM_004369.3(COL6A3):c.9061G>C (p.Asp3021His) rs144054353
NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.9080C>T (p.Ala3027Val) rs1299012840
NM_004369.3(COL6A3):c.9096G>C (p.Leu3032=) rs147327623
NM_004369.3(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315
NM_004369.3(COL6A3):c.9117G>A (p.Thr3039=) rs376780810
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9129C>T (p.Arg3043=) rs10201909
NM_004369.3(COL6A3):c.9130G>A (p.Val3044Ile) rs374628435
NM_004369.3(COL6A3):c.9147C>T (p.Leu3049=) rs183247300
NM_004369.3(COL6A3):c.9180C>G (p.Cys3060Trp) rs376939353
NM_004369.3(COL6A3):c.9192T>G (p.Ser3064=) rs1253951128
NM_004369.3(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992
NM_004369.3(COL6A3):c.9198C>T (p.Val3066=) rs765101399
NM_004369.3(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296
NM_004369.3(COL6A3):c.9209A>G (p.Tyr3070Cys) rs368568929
NM_004369.3(COL6A3):c.9213C>T (p.His3071=) rs2270671
NM_004369.3(COL6A3):c.9230-4A>G rs1559190144
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.3(COL6A3):c.9248C>A (p.Pro3083His) rs760496428
NM_004369.3(COL6A3):c.9250C>T (p.Pro3084Ser) rs1468004640
NM_004369.3(COL6A3):c.9290T>C (p.Leu3097Pro) rs886042363
NM_004369.3(COL6A3):c.9329-33C>T rs398124137
NM_004369.3(COL6A3):c.9339G>A (p.Lys3113=)
NM_004369.3(COL6A3):c.9345G>A (p.Pro3115=) rs748814297
NM_004369.3(COL6A3):c.9351C>T (p.Asp3117=) rs148821986
NM_004369.3(COL6A3):c.9358A>C (p.Thr3120Pro) rs141050617
NM_004369.3(COL6A3):c.936C>T (p.Leu312=) rs377629176
NM_004369.3(COL6A3):c.9394C>T (p.Pro3132Ser) rs147533489
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.3(COL6A3):c.9418T>G (p.Phe3140Val) rs886042448
NM_004369.3(COL6A3):c.9444C>T (p.Asn3148=) rs144291325
NM_004369.3(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515
NM_004369.3(COL6A3):c.9457G>C (p.Gly3153Arg) rs769392747
NM_004369.3(COL6A3):c.9459A>G (p.Gly3153=) rs886044034
NM_004369.3(COL6A3):c.9487G>A (p.Ala3163Thr) rs553486570
NM_004369.3(COL6A3):c.9494-10C>T rs184617787
NM_004369.3(COL6A3):c.9494-26C>T rs13032404
NM_004369.3(COL6A3):c.9494-5C>T rs886043555
NM_004369.3(COL6A3):c.9498C>T (p.Leu3166=) rs150376179
NM_004369.3(COL6A3):c.9508G>A (p.Gly3170Arg) rs568632361
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004369.3(COL6A3):c.958G>A (p.Ala320Thr) rs115819851

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