ClinVar Miner

List of variants in gene COL6A1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 458
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HGVS dbSNP
NC_000021.9:g.(?_45981831)_(46004033_?)dup
NC_000021.9:g.(?_45986526)_(45987654_?)del
NC_000021.9:g.(?_45989064)_(45989157_?)del
NM_001848.2(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001848.2(COL6A1):c.1003-10C>T rs182440627
NM_001848.2(COL6A1):c.1003-1G>A rs886043330
NM_001848.2(COL6A1):c.1003-1G>T rs886043330
NM_001848.2(COL6A1):c.1003-2A>C rs797045477
NM_001848.2(COL6A1):c.1003-2A>G rs797045477
NM_001848.2(COL6A1):c.1003-2del rs1556425835
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>T (p.Gly341Cys) rs886043321
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.2(COL6A1):c.1029A>C (p.Pro343=) rs1556425843
NM_001848.2(COL6A1):c.1030G>C (p.Gly344Arg) rs1569518250
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.1047C>T (p.Pro349=) rs202227298
NM_001848.2(COL6A1):c.1056+5G>A rs886044511
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) rs116343553
NM_001848.2(COL6A1):c.105C>G (p.Pro35=) rs145579577
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.1160G>A (p.Ser387Asn) rs756884829
NM_001848.2(COL6A1):c.1179C>T (p.Asp393=) rs182068143
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1182+5G>C rs1473206283
NM_001848.2(COL6A1):c.1190C>T (p.Pro397Leu) rs746386684
NM_001848.2(COL6A1):c.1227G>A (p.Ala409=) rs557250335
NM_001848.2(COL6A1):c.1231G>A (p.Asp411Asn) rs575394639
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.1254C>T (p.Asp418=) rs148630223
NM_001848.2(COL6A1):c.1271G>A (p.Arg424Gln) rs761729281
NM_001848.2(COL6A1):c.1273-8C>T rs7280215
NM_001848.2(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=) rs7279254
NM_001848.2(COL6A1):c.1315C>T (p.Arg439Trp) rs368239109
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000
NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) rs144887329
NM_001848.2(COL6A1):c.1378G>A (p.Val460Ile) rs375452881
NM_001848.2(COL6A1):c.1378G>T (p.Val460Phe) rs375452881
NM_001848.2(COL6A1):c.1379T>C (p.Val460Ala) rs140735590
NM_001848.2(COL6A1):c.1397C>T (p.Pro466Leu) rs746962124
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1398+2T>G rs1569518481
NM_001848.2(COL6A1):c.1399-3C>T rs200095847
NM_001848.2(COL6A1):c.1399-8C>G rs749529856
NM_001848.2(COL6A1):c.1437C>T (p.Gly479=) rs762625409
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1447C>T (p.Pro483Ser) rs756017426
NM_001848.2(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527
NM_001848.2(COL6A1):c.1462-8C>T rs199849694
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val) rs117340427
NM_001848.2(COL6A1):c.148del (p.Ala49_Leu50insTer) rs1556423728
NM_001848.2(COL6A1):c.14G>A (p.Arg5His) rs1556423460
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.2(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=) rs35134265
NM_001848.2(COL6A1):c.1525-9C>T rs768508076
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.1575+1G>A rs1002726737
NM_001848.2(COL6A1):c.1575C>T (p.Pro525=) rs781031251
NM_001848.2(COL6A1):c.1576-1G>A rs112814811
NM_001848.2(COL6A1):c.1576-2_1576-1del rs1569518725
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+8C>T rs376055208
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.1619A>G (p.Lys540Arg) rs1603593300
NM_001848.2(COL6A1):c.162C>T (p.Pro54=) rs775062782
NM_001848.2(COL6A1):c.1644C>T (p.Asp548=) rs182425338
NM_001848.2(COL6A1):c.1656C>T (p.Ala552=) rs377213930
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.1681G>A (p.Asp561Asn) rs140517685
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) rs374315921
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.1712A>C (p.Lys571Thr) rs751040647
NM_001848.2(COL6A1):c.1729G>A (p.Glu577Lys) rs552634753
NM_001848.2(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385
NM_001848.2(COL6A1):c.1741-6G>A rs200334019
NM_001848.2(COL6A1):c.1742G>C (p.Gly581Ala) rs1462355816
NM_001848.2(COL6A1):c.1745C>T (p.Pro582Leu) rs766478019
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) rs74852641
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=) rs148439285
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.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1823-1G>T rs1569519030
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
NM_001848.2(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943
NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) rs142554239
NM_001848.2(COL6A1):c.1837C>A (p.Pro613Thr) rs200770631
NM_001848.2(COL6A1):c.1848_1850delCCT rs1085307560
NM_001848.2(COL6A1):c.1855G>A (p.Val619Met) rs150938324
NM_001848.2(COL6A1):c.185T>G (p.Val62Gly) rs1603589342
NM_001848.2(COL6A1):c.1877T>C (p.Ile626Thr) rs781626943
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.1930C>T (p.Arg644Trp) rs146622557
NM_001848.2(COL6A1):c.1931G>A (p.Arg644Gln) rs398123634
NM_001848.2(COL6A1):c.1941G>A (p.Arg647=) rs139914666
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001848.2(COL6A1):c.1957-4A>G rs184484842
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.1959C>G (p.Phe653Leu) rs112104768
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.2(COL6A1):c.1979C>T (p.Ala660Val) rs748997622
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.2(COL6A1):c.1982G>A (p.Gly661Asp) rs771702139
NM_001848.2(COL6A1):c.2009T>C (p.Met670Thr) rs776241591
NM_001848.2(COL6A1):c.2021T>G (p.Val674Gly) rs1255698056
NM_001848.2(COL6A1):c.2022G>A (p.Val674=) rs764099825
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
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.2049C>T (p.Asn683=) rs143695871
NM_001848.2(COL6A1):c.2050G>A (p.Val684Met) rs138312247
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) rs8132678
NM_001848.2(COL6A1):c.2067-10T>C rs200727020
NM_001848.2(COL6A1):c.2067-6A>G rs113876477
NM_001848.2(COL6A1):c.2129C>T (p.Thr710Met) rs765641686
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281
NM_001848.2(COL6A1):c.2157G>C (p.Pro719=) rs377152990
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=) rs369502543
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) rs398123635
NM_001848.2(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2250+6G>C rs202212586
NM_001848.2(COL6A1):c.2298A>G (p.Ser766=) rs761665024
NM_001848.2(COL6A1):c.2304G>C (p.Gln768His) rs376567898
NM_001848.2(COL6A1):c.2343G>A (p.Gln781=) rs755487987
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890
NM_001848.2(COL6A1):c.2352C>T (p.Pro784=) rs377558756
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.2418C>T (p.Thr806=) rs760768642
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2431_2434+36del rs759918870
NM_001848.2(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.2(COL6A1):c.2434+4C>T rs202147670
NM_001848.2(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2464+1G>A rs113290209
NM_001848.2(COL6A1):c.2464+9C>T rs368651226
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) rs146662894
NM_001848.2(COL6A1):c.2481G>A (p.Pro827=) rs772673965
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2518G>A (p.Val840Met) rs751124572
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.2569G>A (p.Glu857Lys) rs570688674
NM_001848.2(COL6A1):c.2573G>A (p.Arg858His) rs537763400
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.2601C>T (p.Pro867=) rs200124802
NM_001848.2(COL6A1):c.2603C>T (p.Ala868Val) rs565089447
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.2615G>A (p.Arg872Gln) rs377586358
NM_001848.2(COL6A1):c.261C>T (p.Asn87=) rs770671793
NM_001848.2(COL6A1):c.2622G>A (p.Ala874=) rs371763977
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.2638G>A (p.Gly880Ser) rs544927344
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) rs150432347
NM_001848.2(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185
NM_001848.2(COL6A1):c.2663G>A (p.Arg888Gln) rs138351067
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=) rs372931456
NM_001848.2(COL6A1):c.269C>T (p.Ala90Val) rs766517983
NM_001848.2(COL6A1):c.2705G>A (p.Ser902Asn) rs757422397
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.2713G>A (p.Asp905Asn) rs149331149
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.273G>A (p.Leu91=) rs759821375
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) rs115163637
NM_001848.2(COL6A1):c.2743G>A (p.Asp915Asn) rs763910773
NM_001848.2(COL6A1):c.2746G>A (p.Val916Ile) rs563043611
NM_001848.2(COL6A1):c.2751C>T (p.Asn917=) rs767760988
NM_001848.2(COL6A1):c.2752G>A (p.Asp918Asn) rs750512162
NM_001848.2(COL6A1):c.2758C>T (p.Leu920=) rs141620374
NM_001848.2(COL6A1):c.2768T>G (p.Val923Gly) rs755340450
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) rs61735853
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.2(COL6A1):c.2783G>T (p.Arg928Leu) rs144671871
NM_001848.2(COL6A1):c.2784C>T (p.Arg928=) rs775569169
NM_001848.2(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228
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.2820G>A (p.Leu940=) rs111451684
NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.2(COL6A1):c.2852C>T (p.Thr951Met) rs371111712
NM_001848.2(COL6A1):c.2853G>A (p.Thr951=) rs890068806
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.2857G>T (p.Ala953Ser) 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.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.286G>A (p.Glu96Lys) rs759023976
NM_001848.2(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.2(COL6A1):c.2874C>T (p.Ala958=) rs769441014
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.2899A>G (p.Ile967Val) rs777671647
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001848.2(COL6A1):c.2920G>A (p.Val974Met) rs751999785
NM_001848.2(COL6A1):c.2941C>A (p.Pro981Thr) rs1569519253
NM_001848.2(COL6A1):c.2950C>T (p.Arg984Cys) rs568039462
NM_001848.2(COL6A1):c.2953G>A (p.Val985Ile) rs781394145
NM_001848.2(COL6A1):c.2958G>C (p.Leu986=) rs886057157
NM_001848.2(COL6A1):c.2963C>G (p.Thr988Ser) rs746046225
NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473
NM_001848.2(COL6A1):c.2994C>T (p.Tyr998=) rs148405880
NM_001848.2(COL6A1):c.2996G>A (p.Gly999Asp) rs1603595132
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607
NM_001848.2(COL6A1):c.3034C>T (p.Leu1012=) rs150509473
NM_001848.2(COL6A1):c.3040C>T (p.Arg1014Cys) rs376764211
NM_001848.2(COL6A1):c.3041G>A (p.Arg1014His) rs369764291
NM_001848.2(COL6A1):c.3054C>T (p.His1018=) rs141237809
NM_001848.2(COL6A1):c.3056A>G (p.Gln1019Arg) rs751518356
NM_001848.2(COL6A1):c.3078G>A (p.Ala1026=) rs190043330
NM_001848.2(COL6A1):c.324C>T (p.Gly108=) rs138646508
NM_001848.2(COL6A1):c.325G>A (p.Gly109Ser) rs368580280
NM_001848.2(COL6A1):c.331G>A (p.Asp111Asn) rs1309822720
NM_001848.2(COL6A1):c.334G>A (p.Ala112Thr) rs568865339
NM_001848.2(COL6A1):c.344G>A (p.Ser115Asn) rs372627181
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.355G>A (p.Ala119Thr) rs149392243
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.375G>C (p.Lys125Asn) rs1603589594
NM_001848.2(COL6A1):c.377G>T (p.Gly126Val) rs1300015385
NM_001848.2(COL6A1):c.381C>T (p.Thr127=) rs75180385
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val) rs139648899
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.509G>C (p.Gly170Ala) rs1309872535
NM_001848.2(COL6A1):c.519G>A (p.Glu173=) rs146071423
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg) rs756141940
NM_001848.2(COL6A1):c.554A>G (p.Lys185Arg) rs754667407
NM_001848.2(COL6A1):c.579C>T (p.Pro193=) rs61751027
NM_001848.2(COL6A1):c.588+8C>G rs398123638
NM_001848.2(COL6A1):c.58C>T (p.Gln20Ter) rs1603589167
NM_001848.2(COL6A1):c.595C>T (p.Arg199Cys) rs749628937
NM_001848.2(COL6A1):c.596G>A (p.Arg199His) rs201213605
NM_001848.2(COL6A1):c.5G>A (p.Arg2Lys) rs1305504243
NM_001848.2(COL6A1):c.609C>T (p.Ile203=) rs369590506
NM_001848.2(COL6A1):c.621C>A (p.His207Gln) rs866987981
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.631C>G (p.Arg211Gly) rs375217284
NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.2(COL6A1):c.641C>T (p.Thr214Met) rs369123247
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
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.669C>T (p.Asp223=) rs552000247
NM_001848.2(COL6A1):c.678G>A (p.Glu226=) rs1370178953
NM_001848.2(COL6A1):c.680C>T (p.Ala227Val) rs770597799
NM_001848.2(COL6A1):c.696C>T (p.Ile232=) rs139148709
NM_001848.2(COL6A1):c.697G>A (p.Asp233Asn) rs1259945808
NM_001848.2(COL6A1):c.69G>A (p.Pro23=) rs149741299
NM_001848.2(COL6A1):c.705C>T (p.Ile235=) rs536786554
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.717+9C>T rs183868804
NM_001848.2(COL6A1):c.726C>T (p.Asn242=) rs142102852
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.777G>A (p.Pro259=) rs61735854
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val) rs886043351
NM_001848.2(COL6A1):c.789C>T (p.Gly263=) rs148364156
NM_001848.2(COL6A1):c.811C>T (p.Arg271Ter) rs1391624796
NM_001848.2(COL6A1):c.813A>G (p.Arg271=) rs748184568
NM_001848.2(COL6A1):c.814G>C (p.Gly272Arg) rs398123640
NM_001848.2(COL6A1):c.823G>T (p.Gly275Trp) rs1556425467
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.859-1G>C rs1556425531
NM_001848.2(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.2(COL6A1):c.85G>A (p.Val29Met) rs766057159
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.2(COL6A1):c.868G>T (p.Gly290Trp) rs121912939
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.878G>A (p.Gly293Glu) rs1603590641
NM_001848.2(COL6A1):c.880C>G (p.Pro294Ala) rs141572895
NM_001848.2(COL6A1):c.887G>T (p.Gly296Val) rs1603590649
NM_001848.2(COL6A1):c.903+1G>T rs1569518119
NM_001848.2(COL6A1):c.903+4C>T rs200380846
NM_001848.2(COL6A1):c.903+5G>A rs759468291
NM_001848.2(COL6A1):c.905G>A (p.Gly302Glu) rs1556425566
NM_001848.2(COL6A1):c.930+189C>T rs1556425596
NM_001848.2(COL6A1):c.931-1G>C rs886042354
NM_001848.2(COL6A1):c.931-5C>T rs371841573
NM_001848.2(COL6A1):c.931-6C>A rs778657187
NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.2(COL6A1):c.957+6C>G rs374926748
NM_001848.2(COL6A1):c.957G>A (p.Lys319=) rs1057520625
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.958-2A>G rs1556425717
NM_001848.2(COL6A1):c.98-6G>A rs886042599
NM_001848.2(COL6A1):c.981C>T (p.Ile327=) rs138401567
NM_001848.2(COL6A1):c.984C>T (p.Asp328=) rs781038607
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.997G>A (p.Val333Met) rs201525908
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA
NM_001848.3(COL6A1):c.1002+8G>A rs759134133
NM_001848.3(COL6A1):c.1003-10C>G rs182440627
NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe)
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1G>T
NM_001848.3(COL6A1):c.1056+3A>C
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)
NM_001848.3(COL6A1):c.1146G>A (p.Ala382=) rs148492687
NM_001848.3(COL6A1):c.1236+3G>A
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser)
NM_001848.3(COL6A1):c.1287G>A (p.Glu429=) rs1326051791
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)
NM_001848.3(COL6A1):c.1377C>T (p.Pro459=) rs750717663
NM_001848.3(COL6A1):c.1488C>T (p.Ala496=) rs776768334
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg)
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1521A>G (p.Glu507=) rs781233511
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu)
NM_001848.3(COL6A1):c.1575+2dup
NM_001848.3(COL6A1):c.1575+6T>C
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
NM_001848.3(COL6A1):c.1612-3C>T
NM_001848.3(COL6A1):c.1612-5T>C rs371587579
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn)
NM_001848.3(COL6A1):c.1675-10T>A
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=) rs1603593356
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr)
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=) rs371878987
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg)
NM_001848.3(COL6A1):c.1740+3G>C
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu)
NM_001848.3(COL6A1):c.1764G>A (p.Pro588=) rs542688326
NM_001848.3(COL6A1):c.1777-3C>T
NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=) rs375448277
NM_001848.3(COL6A1):c.1956+9T>C rs1198845505
NM_001848.3(COL6A1):c.1957-10G>A
NM_001848.3(COL6A1):c.1974G>A (p.Ser658=) rs568596125
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=) rs121912937
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
NM_001848.3(COL6A1):c.2019C>T (p.His673=) rs141424786
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu)
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608
NM_001848.3(COL6A1):c.2052G>T (p.Val684=) rs1219591102
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)
NM_001848.3(COL6A1):c.2066+2T>C
NM_001848.3(COL6A1):c.2166C>A (p.Arg722=) rs1603594361
NM_001848.3(COL6A1):c.2220G>C (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)
NM_001848.3(COL6A1):c.2250+9G>A rs1342014969
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=) rs1603594564
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp)
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)
NM_001848.3(COL6A1):c.2434+15_2434+94del rs1603594606
NM_001848.3(COL6A1):c.2434+7A>C rs769385161
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=) rs1182297662
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=) rs569497612
NM_001848.3(COL6A1):c.2565G>A (p.Leu855=) rs1462765947
NM_001848.3(COL6A1):c.2583A>T (p.Thr861=) rs151306374
NM_001848.3(COL6A1):c.2682G>A (p.Leu894=) rs1166610252
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met)
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys)
NM_001848.3(COL6A1):c.2847C>A (p.Gly949=) rs575066401
NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)
NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu)
NM_001848.3(COL6A1):c.2919C>T (p.Val973=) rs764490258
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)
NM_001848.3(COL6A1):c.2964C>T (p.Thr988=) rs769881364
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)
NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=) rs369948305
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu)
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu)
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001848.3(COL6A1):c.378C>T (p.Gly126=)
NM_001848.3(COL6A1):c.393C>T (p.Cys131=) rs1020779562
NM_001848.3(COL6A1):c.428+10C>T rs1437662111
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg)
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr)
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)
NM_001848.3(COL6A1):c.589-3C>T
NM_001848.3(COL6A1):c.594G>A (p.Pro198=) rs376592866
NM_001848.3(COL6A1):c.594G>C (p.Pro198=) rs376592866
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val)
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu)
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr)
NM_001848.3(COL6A1):c.706G>A (p.Val236Met)
NM_001848.3(COL6A1):c.738+1G>T
NM_001848.3(COL6A1):c.739-6C>G
NM_001848.3(COL6A1):c.739-7C>T rs1603590124
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)
NM_001848.3(COL6A1):c.804+1G>A
NM_001848.3(COL6A1):c.805-2A>C
NM_001848.3(COL6A1):c.805-2A>T
NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg)
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)
NM_001848.3(COL6A1):c.842_858+7del
NM_001848.3(COL6A1):c.850G>A rs121912938
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
NM_001848.3(COL6A1):c.876C>T (p.Leu292=) rs746362485
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)
NM_001848.3(COL6A1):c.924G>C (p.Gly308=) rs374654116
NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys)
NM_001848.3(COL6A1):c.98-2_103del rs1556423703
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
NM_001848.3(COL6A1):c.9G>A (p.Ala3=) rs369561233

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