ClinVar Miner

List of variants in gene COL6A1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 371
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HGVS dbSNP
GRCh37/hg19 21q22.3(chr21:47402620-47465205)x3
GRCh37/hg19 21q22.3(chr21:47417303-47426252)x3
GRCh37/hg19 21q22.3(chr21:47421947-47427839)x3
GRCh37/hg19 21q22.3(chr21:47423636-47427839)x1
NM_001848.2(COL6A1):c.*8T>G rs886042400
NM_001848.2(COL6A1):c.-1C>T rs377142360
NM_001848.2(COL6A1):c.1002+1G>A rs886043700
NM_001848.2(COL6A1):c.1002+1G>T rs886043700
NM_001848.2(COL6A1):c.1002+2T>G rs1322590833
NM_001848.2(COL6A1):c.1003-10C>T rs182440627
NM_001848.2(COL6A1):c.1003-12_1006del16insGGA rs1556425832
NM_001848.2(COL6A1):c.1003-1G>A rs886043330
NM_001848.2(COL6A1):c.1003-2delA rs1556425835
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.2(COL6A1):c.1015T>C (p.Tyr339His) rs186775751
NM_001848.2(COL6A1):c.1021G>C (p.Gly341Arg) rs886043321
NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.2(COL6A1):c.1024_1032delCTGCCAGGC (p.Leu342_Gly344del) rs398123630
NM_001848.2(COL6A1):c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs) rs886043291
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.1056+1delG rs1556425853
NM_001848.2(COL6A1):c.1056+4A>G rs886043433
NM_001848.2(COL6A1):c.1056+5G>T rs886044511
NM_001848.2(COL6A1):c.1075_1076delGGinsAA (p.Gly359Asn) rs886042646
NM_001848.2(COL6A1):c.1092C>T (p.Pro364=) rs368088970
NM_001848.2(COL6A1):c.1096G>A (p.Ala366Thr) rs183994910
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1122C>T (p.Gly374=) rs373535692
NM_001848.2(COL6A1):c.1132G>C (p.Ala378Pro) rs1057518005
NM_001848.2(COL6A1):c.1164G>A (p.Ser388=) rs756085848
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001848.2(COL6A1):c.1231G>A (p.Asp411Asn)
NM_001848.2(COL6A1):c.1233C>T (p.Asp411=) rs140478280
NM_001848.2(COL6A1):c.1234G>A (p.Glu412Lys) rs751779784
NM_001848.2(COL6A1):c.1236+2T>G rs1037202843
NM_001848.2(COL6A1):c.1236+5G>A rs376327142
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=) rs148630223
NM_001848.2(COL6A1):c.1264G>A (p.Gly422Arg)
NM_001848.2(COL6A1):c.1267G>A (p.Glu423Lys) rs1064796958
NM_001848.2(COL6A1):c.1273-4T>C rs373909354
NM_001848.2(COL6A1):c.1285G>A (p.Glu429Lys) rs755151758
NM_001848.2(COL6A1):c.128A>C (p.Asp43Ala) rs786205555
NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu) rs759834554
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) rs144887329
NM_001848.2(COL6A1):c.1352A>G (p.Gln451Arg) rs764235653
NM_001848.2(COL6A1):c.1379T>C (p.Val460Ala) rs140735590
NM_001848.2(COL6A1):c.138G>C (p.Glu46Asp) rs886043183
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.2(COL6A1):c.1399-3C>T rs200095847
NM_001848.2(COL6A1):c.1399-8C>G rs749529856
NM_001848.2(COL6A1):c.1412C>T (p.Pro471Leu)
NM_001848.2(COL6A1):c.1425delA (p.Gly476Alafs) rs878854398
NM_001848.2(COL6A1):c.1437C>T (p.Gly479=) rs762625409
NM_001848.2(COL6A1):c.1451C>T (p.Pro484Leu)
NM_001848.2(COL6A1):c.1461+7C>T
NM_001848.2(COL6A1):c.1461G>C (p.Glu487Asp) rs1474176856
NM_001848.2(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915
NM_001848.2(COL6A1):c.1505C>T (p.Pro502Leu) rs398123632
NM_001848.2(COL6A1):c.1509G>A (p.Gly503=) rs1368309193
NM_001848.2(COL6A1):c.1525-9C>T rs768508076
NM_001848.2(COL6A1):c.1532A>G (p.Asp511Gly) rs886044367
NM_001848.2(COL6A1):c.1539C>T (p.Pro513=) rs150834054
NM_001848.2(COL6A1):c.1540G>A (p.Ala514Thr) rs760815168
NM_001848.2(COL6A1):c.1553C>A (p.Thr518Asn) rs201935658
NM_001848.2(COL6A1):c.1554C>T (p.Thr518=) rs9637170
NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963
NM_001848.2(COL6A1):c.1566C>T (p.Pro522=) rs753063150
NM_001848.2(COL6A1):c.1575C>T (p.Pro525=) rs781031251
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) rs139243418
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=) rs143755280
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.2(COL6A1):c.1611+1G>A rs886042748
NM_001848.2(COL6A1):c.1611+8C>T
NM_001848.2(COL6A1):c.1611C>A (p.Asn537Lys) rs200023632
NM_001848.2(COL6A1):c.1612-5T>A
NM_001848.2(COL6A1):c.1630G>A (p.Gly544Ser) rs1064794846
NM_001848.2(COL6A1):c.1641_1642del (p.Asp548Argfs)
NM_001848.2(COL6A1):c.1656C>T (p.Ala552=) rs377213930
NM_001848.2(COL6A1):c.1659G>A (p.Gly553=)
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) rs369802454
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=) rs770099663
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) rs374315921
NM_001848.2(COL6A1):c.1693C>T (p.Arg565Ter)
NM_001848.2(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001848.2(COL6A1):c.1710A>C (p.Ala570=)
NM_001848.2(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647
NM_001848.2(COL6A1):c.1741-6G>A rs200334019
NM_001848.2(COL6A1):c.1763C>T (p.Pro588Leu) rs759442615
NM_001848.2(COL6A1):c.1782C>T (p.Cys594=) rs745847824
NM_001848.2(COL6A1):c.1783G>A (p.Glu595Lys) rs367650141
NM_001848.2(COL6A1):c.1814-8C>T rs777017599
NM_001848.2(COL6A1):c.1817G>T (p.Cys606Phe) rs368925441
NM_001848.2(COL6A1):c.1820G>A (p.Cys607Tyr) rs886042538
NM_001848.2(COL6A1):c.1823-8G>T rs184666690
NM_001848.2(COL6A1):c.1823-9C>T rs398123633
NM_001848.2(COL6A1):c.1825T>C (p.Cys609Arg)
NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709
NM_001848.2(COL6A1):c.1830G>T (p.Lys610Asn) rs1355588311
NM_001848.2(COL6A1):c.1837C>A (p.Pro613Thr) rs200770631
NM_001848.2(COL6A1):c.1848_1850delCCT (p.Leu617del) rs1085307560
NM_001848.2(COL6A1):c.1898T>C (p.Ile633Thr)
NM_001848.2(COL6A1):c.1906G>A (p.Asp636Asn)
NM_001848.2(COL6A1):c.1908C>G (p.Asp636Glu) rs886042572
NM_001848.2(COL6A1):c.1911C>T (p.Phe637=) rs552239546
NM_001848.2(COL6A1):c.1931G>A (p.Arg644Gln) rs398123634
NM_001848.2(COL6A1):c.1957-4A>G rs184484842
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.2(COL6A1):c.1973C>T (p.Ser658Leu) rs1260709010
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.2(COL6A1):c.2029C>T (p.Arg677Cys)
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.2034C>T (p.Ser678=) rs750801808
NM_001848.2(COL6A1):c.2035C>T (p.Pro679Ser) rs756467809
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2044C>T (p.Arg682Trp) rs777378283
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2050G>A (p.Val684Met)
NM_001848.2(COL6A1):c.2050G>T (p.Val684Leu) rs138312247
NM_001848.2(COL6A1):c.2091G>A (p.Met697Ile) rs372750707
NM_001848.2(COL6A1):c.2097C>T (p.Gly699=)
NM_001848.2(COL6A1):c.2109G>A (p.Thr703=) rs760649238
NM_001848.2(COL6A1):c.2122C>T (p.Gln708Ter)
NM_001848.2(COL6A1):c.2129C>T (p.Thr710Met)
NM_001848.2(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281
NM_001848.2(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190
NM_001848.2(COL6A1):c.2148G>A (p.Pro716=) rs780032842
NM_001848.2(COL6A1):c.2151C>T (p.Pro717=) rs886042949
NM_001848.2(COL6A1):c.2156C>T (p.Pro719Leu) rs753759904
NM_001848.2(COL6A1):c.2160dup (p.Asn721Glnfs) rs1249738773
NM_001848.2(COL6A1):c.2165G>A (p.Arg722His) rs758242849
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=) rs369502543
NM_001848.2(COL6A1):c.2190G>A (p.Gly730=)
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) rs398123635
NM_001848.2(COL6A1):c.2192G>A (p.Arg731His) rs777293815
NM_001848.2(COL6A1):c.2195C>T (p.Ser732Leu) rs1556432119
NM_001848.2(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957
NM_001848.2(COL6A1):c.2213C>T (p.Thr738Ile) rs1064796728
NM_001848.2(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2251-6C>T rs756140988
NM_001848.2(COL6A1):c.2263G>A (p.Gly755Ser) rs770610890
NM_001848.2(COL6A1):c.226A>C (p.Arg76=) rs886043954
NM_001848.2(COL6A1):c.2275G>A (p.Val759Met) rs373383488
NM_001848.2(COL6A1):c.2285T>C (p.Phe762Ser) rs886042688
NM_001848.2(COL6A1):c.2304G>C (p.Gln768His) rs376567898
NM_001848.2(COL6A1):c.2309A>G (p.Asn770Ser) rs886042972
NM_001848.2(COL6A1):c.2349G>T (p.Arg783=) rs373511343
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) rs149910296
NM_001848.2(COL6A1):c.2358C>T (p.Leu786=) rs886042391
NM_001848.2(COL6A1):c.2360C>T (p.Ser787Leu) rs1203093809
NM_001848.2(COL6A1):c.2413G>A (p.Val805Ile) rs886043403
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) rs760768642
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2434+5G>T rs1360722232
NM_001848.2(COL6A1):c.2435-2A>G rs940473416
NM_001848.2(COL6A1):c.2435-36A>C rs201427546
NM_001848.2(COL6A1):c.2442G>A (p.Lys814=)
NM_001848.2(COL6A1):c.2464+9C>T rs368651226
NM_001848.2(COL6A1):c.2465-7C>T
NM_001848.2(COL6A1):c.2468C>T (p.Thr823Met) rs749442445
NM_001848.2(COL6A1):c.247A>G (p.Asn83Asp) rs1556424177
NM_001848.2(COL6A1):c.2507G>A (p.Gly836Asp) rs794727582
NM_001848.2(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550
NM_001848.2(COL6A1):c.2553C>T (p.Phe851=) rs370632963
NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.2(COL6A1):c.2561G>A (p.Arg854His) rs200732314
NM_001848.2(COL6A1):c.2585C>T (p.Ala862Val) rs766944483
NM_001848.2(COL6A1):c.2592G>A (p.Arg864=) rs766279884
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.2595G>C (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.2601C>T (p.Pro867=) rs200124802
NM_001848.2(COL6A1):c.2607C>G (p.His869Gln) rs777003143
NM_001848.2(COL6A1):c.2610C>T (p.Asp870=) rs759989949
NM_001848.2(COL6A1):c.2611G>A (p.Val871Met) rs374685631
NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027
NM_001848.2(COL6A1):c.261C>T (p.Asn87=) rs770671793
NM_001848.2(COL6A1):c.2626G>A (p.Val876Met) rs573185206
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=) rs540554122
NM_001848.2(COL6A1):c.2643G>A (p.Thr881=)
NM_001848.2(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580
NM_001848.2(COL6A1):c.2660A>G (p.Glu887Gly) rs794727581
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185
NM_001848.2(COL6A1):c.2670G>A (p.Ser890=) rs527265374
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=) rs372931456
NM_001848.2(COL6A1):c.2697C>A (p.Ala899=)
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.2712C>T (p.Val904=)
NM_001848.2(COL6A1):c.2713G>A (p.Asp905Asn)
NM_001848.2(COL6A1):c.2733C>T (p.Asn911=) rs144585693
NM_001848.2(COL6A1):c.2746G>A (p.Val916Ile) rs563043611
NM_001848.2(COL6A1):c.2752G>A (p.Asp918Asn) rs750512162
NM_001848.2(COL6A1):c.2765A>G (p.Tyr922Cys) rs886043011
NM_001848.2(COL6A1):c.2783G>T (p.Arg928Leu)
NM_001848.2(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228
NM_001848.2(COL6A1):c.2789C>T (p.Ala930Val) rs1226087945
NM_001848.2(COL6A1):c.278A>T (p.Tyr93Phe)
NM_001848.2(COL6A1):c.2793G>A (p.Ser931=) rs148561616
NM_001848.2(COL6A1):c.2797G>A (p.Gly933Ser)
NM_001848.2(COL6A1):c.2800G>A (p.Ala934Thr) rs147716407
NM_001848.2(COL6A1):c.2803G>A (p.Ala935Thr) rs766416007
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.2810_2812delAGA (p.Lys937del) rs886043457
NM_001848.2(COL6A1):c.2820G>A (p.Leu940=) rs111451684
NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.2(COL6A1):c.2848G>A (p.Ala950Thr) rs771844518
NM_001848.2(COL6A1):c.2853G>A (p.Thr951=) rs890068806
NM_001848.2(COL6A1):c.2855C>T (p.Pro952Leu) rs1225019573
NM_001848.2(COL6A1):c.2856C>T (p.Pro952=) rs140427635
NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645
NM_001848.2(COL6A1):c.285C>G (p.Asp95Glu) rs145811554
NM_001848.2(COL6A1):c.2863A>G (p.Ile955Val) rs373070436
NM_001848.2(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met) rs200959957
NM_001848.2(COL6A1):c.2876T>C (p.Val959Ala) rs144814689
NM_001848.2(COL6A1):c.2890C>T (p.Arg964Trp) rs375007666
NM_001848.2(COL6A1):c.2891G>A (p.Arg964Gln) rs794727580
NM_001848.2(COL6A1):c.2899A>G (p.Ile967Val) rs777671647
NM_001848.2(COL6A1):c.2910C>T (p.Phe970=) rs759623301
NM_001848.2(COL6A1):c.2914G>A (p.Val972Met) rs1223179643
NM_001848.2(COL6A1):c.2915T>C (p.Val972Ala) rs1131691418
NM_001848.2(COL6A1):c.2920G>A (p.Val974Met)
NM_001848.2(COL6A1):c.2953G>A (p.Val985Ile) rs781394145
NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473
NM_001848.2(COL6A1):c.2983G>A (p.Asp995Asn) rs138673993
NM_001848.2(COL6A1):c.2986G>A (p.Val996Met) rs764765574
NM_001848.2(COL6A1):c.2998G>T (p.Glu1000Ter)
NM_001848.2(COL6A1):c.3009G>A (p.Leu1003=) rs886042992
NM_001848.2(COL6A1):c.3056A>G (p.Gln1019Arg) rs751518356
NM_001848.2(COL6A1):c.311C>T (p.Thr104Met) rs781396484
NM_001848.2(COL6A1):c.315_349del35 (p.Met106Glyfs) rs886043147
NM_001848.2(COL6A1):c.325G>A (p.Gly109Ser) rs368580280
NM_001848.2(COL6A1):c.328C>G (p.Arg110Gly) rs757632221
NM_001848.2(COL6A1):c.329G>A (p.Arg110His) rs773139115
NM_001848.2(COL6A1):c.348C>T (p.Ser116=) rs189444981
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.352G>A (p.Asp118Asn)
NM_001848.2(COL6A1):c.355G>A (p.Ala119Thr)
NM_001848.2(COL6A1):c.356C>T (p.Ala119Val) rs571641824
NM_001848.2(COL6A1):c.357G>A (p.Ala119=) rs747037863
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.366C>T (p.Tyr122=) rs770744511
NM_001848.2(COL6A1):c.376G>A (p.Gly126Ser) rs886043738
NM_001848.2(COL6A1):c.377G>T (p.Gly126Val)
NM_001848.2(COL6A1):c.379A>G (p.Thr127Ala) rs886043850
NM_001848.2(COL6A1):c.381C>T (p.Thr127=) rs75180385
NM_001848.2(COL6A1):c.388G>A (p.Asp130Asn)
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val) rs139648899
NM_001848.2(COL6A1):c.414G>A (p.Glu138=) rs1556424277
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) rs373486149
NM_001848.2(COL6A1):c.424G>C (p.Val142Leu) rs144282452
NM_001848.2(COL6A1):c.429-8C>T
NM_001848.2(COL6A1):c.434C>G (p.Ser145Cys)
NM_001848.2(COL6A1):c.434C>T (p.Ser145Phe)
NM_001848.2(COL6A1):c.519G>A (p.Glu173=)
NM_001848.2(COL6A1):c.525T>A (p.Ala175=) rs761552446
NM_001848.2(COL6A1):c.531C>T (p.Asn177=) rs767176038
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg) rs756141940
NM_001848.2(COL6A1):c.541C>T (p.His181Tyr) rs1556424938
NM_001848.2(COL6A1):c.548G>A (p.Gly183Asp) rs766184155
NM_001848.2(COL6A1):c.549C>T (p.Gly183=) rs398123636
NM_001848.2(COL6A1):c.556G>C (p.Val186Leu) rs886042409
NM_001848.2(COL6A1):c.588+10G>A rs890926408
NM_001848.2(COL6A1):c.588+12_588+13insA rs398123637
NM_001848.2(COL6A1):c.588+8C>G rs398123638
NM_001848.2(COL6A1):c.593C>T (p.Pro198Leu) rs199867193
NM_001848.2(COL6A1):c.595C>T (p.Arg199Cys) rs749628937
NM_001848.2(COL6A1):c.602G>C (p.Ser201Thr) rs868198274
NM_001848.2(COL6A1):c.607A>G (p.Ile203Val) rs886044481
NM_001848.2(COL6A1):c.609C>T (p.Ile203=) rs369590506
NM_001848.2(COL6A1):c.614C>T (p.Thr205Met) rs1343618467
NM_001848.2(COL6A1):c.623C>T (p.Thr208Met) rs372199631
NM_001848.2(COL6A1):c.624G>A (p.Thr208=) rs573282005
NM_001848.2(COL6A1):c.628C>T (p.Arg210Trp) rs950115468
NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.2(COL6A1):c.641C>T (p.Thr214Met)
NM_001848.2(COL6A1):c.646G>T (p.Ala216Ser) rs750465594
NM_001848.2(COL6A1):c.665G>A (p.Arg222His) rs780638665
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
NM_001848.2(COL6A1):c.667G>A (p.Asp223Asn) rs199842980
NM_001848.2(COL6A1):c.674A>T (p.Glu225Val) rs886043858
NM_001848.2(COL6A1):c.680C>T (p.Ala227Val)
NM_001848.2(COL6A1):c.696C>T (p.Ile232=)
NM_001848.2(COL6A1):c.705C>T (p.Ile235=) rs536786554
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.717C>T (p.Ile239=) rs775349013
NM_001848.2(COL6A1):c.726C>T (p.Asn242=) rs142102852
NM_001848.2(COL6A1):c.738+14C>T rs374896651
NM_001848.2(COL6A1):c.738+8C>G rs1556425058
NM_001848.2(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.2(COL6A1):c.739-10C>G rs886044087
NM_001848.2(COL6A1):c.739-5C>T rs369946755
NM_001848.2(COL6A1):c.741C>A (p.Cys247Ter) rs1057522053
NM_001848.2(COL6A1):c.74C>A (p.Thr25Asn) rs767205402
NM_001848.2(COL6A1):c.750C>A (p.Phe250Leu) rs748153811
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys) rs145849970
NM_001848.2(COL6A1):c.763G>A (p.Ala255Thr) rs145473829
NM_001848.2(COL6A1):c.776C>T (p.Pro259Leu) rs767905829
NM_001848.2(COL6A1):c.780G>A (p.Gly260=) rs143396975
NM_001848.2(COL6A1):c.782_789delTCCGGGGC (p.Leu261Argfs) rs886043354
NM_001848.2(COL6A1):c.784C>T (p.Arg262Trp) rs752259110
NM_001848.2(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.2(COL6A1):c.789C>T (p.Gly263=) rs148364156
NM_001848.2(COL6A1):c.790G>A (p.Asp264Asn)
NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu) rs757230924
NM_001848.2(COL6A1):c.795C>T (p.Pro265=)
NM_001848.2(COL6A1):c.805-2A>G rs398123639
NM_001848.2(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.2(COL6A1):c.811C>T (p.Arg271Ter) rs1391624796
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001848.2(COL6A1):c.815G>A (p.Gly272Asp) rs1064793840
NM_001848.2(COL6A1):c.821C>T (p.Pro274Leu) rs201093313
NM_001848.2(COL6A1):c.822G>A (p.Pro274=) rs886044503
NM_001848.2(COL6A1):c.823G>C (p.Gly275Arg)
NM_001848.2(COL6A1):c.829C>T (p.Pro277Ser)
NM_001848.2(COL6A1):c.833G>A (p.Gly278Glu) rs886043106
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.2(COL6A1):c.842G>A (p.Gly281Glu) rs886041383
NM_001848.2(COL6A1):c.846_854delAGCCGGAGA (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.859-18T>A rs398123641
NM_001848.2(COL6A1):c.859-1G>C rs1556425531
NM_001848.2(COL6A1):c.859-22A>G rs398123642
NM_001848.2(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.2(COL6A1):c.903+1G>T
NM_001848.2(COL6A1):c.903+3_903+7delACGTGinsCCTTC rs886044204
NM_001848.2(COL6A1):c.904-10G>A rs794727027
NM_001848.2(COL6A1):c.904-2A>G rs1057519174
NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.2(COL6A1):c.904G>C (p.Gly302Arg) rs794727028
NM_001848.2(COL6A1):c.911A>G (p.Lys304Arg) rs1064794736
NM_001848.2(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.2(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.2(COL6A1):c.930+10G>A rs772379034
NM_001848.2(COL6A1):c.930+189C>T rs1556425596
NM_001848.2(COL6A1):c.930+1G>A rs886042902
NM_001848.2(COL6A1):c.931-1G>A
NM_001848.2(COL6A1):c.931-1G>C rs886042354
NM_001848.2(COL6A1):c.931-3C>A rs747284546
NM_001848.2(COL6A1):c.931-5C>T rs371841573
NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.2(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.2(COL6A1):c.957+1G>A rs886044535
NM_001848.2(COL6A1):c.957+2T>C rs794727060
NM_001848.2(COL6A1):c.957+6C>G rs374926748
NM_001848.2(COL6A1):c.957+6C>T rs374926748
NM_001848.2(COL6A1):c.957+7G>A rs764488809
NM_001848.2(COL6A1):c.957+7G>C rs764488809
NM_001848.2(COL6A1):c.957G>A (p.Lys319=) rs1057520625
NM_001848.2(COL6A1):c.957G>T (p.Lys319Asn) rs1057520625
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.958-10C>T rs200508160
NM_001848.2(COL6A1):c.958-9G>A
NM_001848.2(COL6A1):c.97+6T>G
NM_001848.2(COL6A1):c.974G>A (p.Arg325His) rs1471278793
NM_001848.2(COL6A1):c.98-2_103delAGACTGCC rs1556423703
NM_001848.2(COL6A1):c.98-3C>G rs1353609979
NM_001848.2(COL6A1):c.98-6G>A rs886042599
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) rs373948031
NM_001848.2(COL6A1):c.996C>T (p.Gly332=) rs11702055
NM_001848.2(COL6A1):c.9G>T (p.Ala3=) rs369561233

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