ClinVar Miner

List of variants studied for Bethlem myopathy by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1092
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HGVS dbSNP
NC_000002.12:g.(?_236573327)_(237396837_?)dup
NC_000002.12:g.(?_237333450)_(237334889_?)del
NC_000002.12:g.(?_237358501)_(237361194_?)del
NC_000002.12:g.(?_237362747)_(237372158_?)del
NC_000021.9:g.(?_45981831)_(46112597_?)dup
NC_000021.9:g.(?_45981831)_(46132572_?)del
NC_000021.9:g.(?_45989064)_(45989157_?)del
NC_000021.9:g.(?_46111477)_(46121123_?)del
NM_001848.2(COL6A1):c.1002+6_1002+88delTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC rs1556425727
NM_001848.2(COL6A1):c.1003-2delA rs1556425835
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
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)
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.1095_1096invTG (p.Ala366Thr)
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.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1182+5G>C
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)
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)
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.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>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
NM_001848.2(COL6A1):c.1399-8C>G rs749529856
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1459G>A (p.Glu487Lys)
NM_001848.2(COL6A1):c.1462-8C>T rs199849694
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val) rs117340427
NM_001848.2(COL6A1):c.148delC (p.Leu50Terfs) 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.1540G>A (p.Ala514Thr) rs760815168
NM_001848.2(COL6A1):c.1576-1G>A
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.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.162C>T (p.Pro54=) rs775062782
NM_001848.2(COL6A1):c.1644C>T (p.Asp548=) rs182425338
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.1729G>A (p.Glu577Lys) rs552634753
NM_001848.2(COL6A1):c.1741-6G>A rs200334019
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.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1823-1G>T
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
NM_001848.2(COL6A1):c.1825T>C (p.Cys609Arg)
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.1848_1850delCCT (p.Leu617del) rs1085307560
NM_001848.2(COL6A1):c.1855G>A (p.Val619Met) rs150938324
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.1930C>T (p.Arg644Trp) rs146622557
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.2(COL6A1):c.2009T>C (p.Met670Thr) rs776241591
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.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.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2157G>C (p.Pro719=) rs377152990
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.2250+6G>C rs202212586
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.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2431_2434+36del rs759918870
NM_001848.2(COL6A1):c.2434+15_2434+54del40 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+9C>T rs368651226
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) rs146662894
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.2603C>T (p.Ala868Val)
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.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.2663G>A (p.Arg888Gln) rs138351067
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=) rs372931456
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.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.2746G>A (p.Val916Ile) rs563043611
NM_001848.2(COL6A1):c.2751C>T (p.Asn917=) rs767760988
NM_001848.2(COL6A1):c.2758C>T (p.Leu920=) rs141620374
NM_001848.2(COL6A1):c.2768T>G (p.Val923Gly)
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.2784C>T (p.Arg928=) rs775569169
NM_001848.2(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228
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.2852C>T (p.Thr951Met) rs371111712
NM_001848.2(COL6A1):c.2857G>T (p.Ala953Ser)
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.2875G>A (p.Val959Met) rs200959957
NM_001848.2(COL6A1):c.2876T>C (p.Val959Ala) rs144814689
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.2941C>A (p.Pro981Thr)
NM_001848.2(COL6A1):c.2950C>T (p.Arg984Cys)
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.3041G>A (p.Arg1014His)
NM_001848.2(COL6A1):c.3054C>T (p.His1018=) rs141237809
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)
NM_001848.2(COL6A1):c.344G>A (p.Ser115Asn)
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
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.356C>T (p.Ala119Val) rs571641824
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.377G>T (p.Gly126Val)
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.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.596G>A (p.Arg199His)
NM_001848.2(COL6A1):c.5G>A (p.Arg2Lys)
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.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
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)
NM_001848.2(COL6A1):c.69G>A (p.Pro23=) rs149741299
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.717+9C>T rs183868804
NM_001848.2(COL6A1):c.750C>A (p.Phe250Leu) rs748153811
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)
NM_001848.2(COL6A1):c.813A>G (p.Arg271=) rs748184568
NM_001848.2(COL6A1):c.814G>C (p.Gly272Arg)
NM_001848.2(COL6A1):c.821C>T (p.Pro274Leu) rs201093313
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.846_854delAGCCGGAGA (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.85G>A (p.Val29Met)
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.880C>G (p.Pro294Ala) rs141572895
NM_001848.2(COL6A1):c.903+5G>A
NM_001848.2(COL6A1):c.905G>A (p.Gly302Glu) rs1556425566
NM_001848.2(COL6A1):c.930+189C>T rs1556425596
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_001849.3(COL6A2):c.*5G>A rs377195134
NM_001849.3(COL6A2):c.1000-13_1030delCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT rs1555873353
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1000-6C>T rs761428568
NM_001849.3(COL6A2):c.1037_1038delGAinsTT (p.Gly346Val)
NM_001849.3(COL6A2):c.1053+3A>T rs1555873388
NM_001849.3(COL6A2):c.1053+6G>A rs373181368
NM_001849.3(COL6A2):c.1054-2A>G rs886044023
NM_001849.3(COL6A2):c.1059delC (p.Asp354Thrfs) rs1555873508
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.3(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.3(COL6A2):c.1111G>A (p.Gly371Ser)
NM_001849.3(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620
NM_001849.3(COL6A2):c.1130G>A (p.Arg377His) rs148552966
NM_001849.3(COL6A2):c.1138C>T (p.Arg380Cys) rs142880107
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.116-6C>T rs761805565
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
NM_001849.3(COL6A2):c.1181G>C (p.Gly394Ala)
NM_001849.3(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.3(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.3(COL6A2):c.1225G>A (p.Gly409Arg)
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1294A>T (p.Lys432Ter)
NM_001849.3(COL6A2):c.129C>T (p.Cys43=) rs755324001
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1336G>C (p.Asp446His) rs535007570
NM_001849.3(COL6A2):c.1348G>C (p.Glu450Gln) rs757846451
NM_001849.3(COL6A2):c.1356C>T (p.Pro452=) rs886044428
NM_001849.3(COL6A2):c.1357C>T (p.Arg453Cys)
NM_001849.3(COL6A2):c.1358G>A (p.Arg453His) rs878854386
NM_001849.3(COL6A2):c.138C>T (p.His46=) rs201753549
NM_001849.3(COL6A2):c.1402C>T (p.Arg468Ter)
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1458+9_1458+14delCAGTGC rs762583937
NM_001849.3(COL6A2):c.1459-2A>G rs749974929
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332
NM_001849.3(COL6A2):c.1518C>T (p.Pro506=) rs767192013
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) rs147194375
NM_001849.3(COL6A2):c.1641_1667delACCTGGGAGGAAAGGAGAGAAAGGAGA (p.Gly549_Pro557del) rs1555874762
NM_001849.3(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639
NM_001849.3(COL6A2):c.1671+9_1671+10invCA
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) rs144334894
NM_001849.3(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.3(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804
NM_001849.3(COL6A2):c.1751delC (p.Pro584Leufs) rs886044398
NM_001849.3(COL6A2):c.1762G>A (p.Gly588Ser) rs139488626
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1770G>A (p.Thr590=) rs150999832
NM_001849.3(COL6A2):c.1792G>A (p.Val598Met) rs149731632
NM_001849.3(COL6A2):c.1816+9C>T rs1456625954
NM_001849.3(COL6A2):c.1817-4_1817-3dupCC rs149954350
NM_001849.3(COL6A2):c.181T>C (p.Ser61Pro) rs990733473
NM_001849.3(COL6A2):c.1836C>T (p.Gly612=) rs141257132
NM_001849.3(COL6A2):c.1845C>T (p.Asp615=) rs908989305
NM_001849.3(COL6A2):c.1899G>A (p.Leu633=) rs189341312
NM_001849.3(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.3(COL6A2):c.1921G>A (p.Val641Met) rs1032420539
NM_001849.3(COL6A2):c.1925T>C (p.Val642Ala) rs760227367
NM_001849.3(COL6A2):c.1937G>A (p.Gly646Asp)
NM_001849.3(COL6A2):c.1944C>T (p.Ile648=) rs148178994
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=) rs150253422
NM_001849.3(COL6A2):c.1969+10G>C rs201259184
NM_001849.3(COL6A2):c.1970-10C>T rs373369963
NM_001849.3(COL6A2):c.1970-3C>A rs201879417
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) rs114554195
NM_001849.3(COL6A2):c.2153G>A (p.Ser718Asn)
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) rs61735829
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) rs16978875
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077
NM_001849.3(COL6A2):c.2171G>T (p.Arg724Leu) rs145450812
NM_001849.3(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.3(COL6A2):c.2181G>A (p.Ala727=)
NM_001849.3(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2235G>T (p.Arg745=) rs773668391
NM_001849.3(COL6A2):c.2237C>T (p.Ala746Val) rs761863452
NM_001849.3(COL6A2):c.2238G>A (p.Ala746=) rs535581551
NM_001849.3(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495
NM_001849.3(COL6A2):c.2244C>T (p.Cys748=) rs201426778
NM_001849.3(COL6A2):c.2278G>A (p.Gly760Arg)
NM_001849.3(COL6A2):c.229T>C (p.Phe77Leu) rs199736749
NM_001849.3(COL6A2):c.22G>A (p.Val8Met) rs192476178
NM_001849.3(COL6A2):c.2301C>T (p.His767=) rs138371054
NM_001849.3(COL6A2):c.2319C>T (p.Tyr773=) rs377458657
NM_001849.3(COL6A2):c.2326G>A (p.Ala776Thr) rs759293889
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813
NM_001849.3(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.3(COL6A2):c.2375T>C (p.Leu792Pro)
NM_001849.3(COL6A2):c.2386_2388delAAG (p.Lys796del) rs747378168
NM_001849.3(COL6A2):c.2407G>A (p.Asp803Asn) rs761913437
NM_001849.3(COL6A2):c.2410G>A (p.Val804Ile) rs199896699
NM_001849.3(COL6A2):c.2422+6C>T rs371950486
NM_001849.3(COL6A2):c.2435T>C (p.Val812Ala) rs886044025
NM_001849.3(COL6A2):c.2454C>T (p.Cys818=) rs199499499
NM_001849.3(COL6A2):c.2462-5C>T rs760890154
NM_001849.3(COL6A2):c.2462-5dupC rs797044699
NM_001849.3(COL6A2):c.2470G>A (p.Val824Met) rs758758266
NM_001849.3(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.3(COL6A2):c.2483C>T (p.Thr828Met) rs755782924
NM_001849.3(COL6A2):c.2484G>A (p.Thr828=) rs147199350
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile) rs117668143
NM_001849.3(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2524G>A (p.Glu842Lys) rs571051982
NM_001849.3(COL6A2):c.2528G>A (p.Arg843Gln) rs201736323
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.3(COL6A2):c.2580G>A (p.Ala860=) rs146420786
NM_001849.3(COL6A2):c.2584C>T (p.Arg862Trp) rs777822883
NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) rs1042930
NM_001849.3(COL6A2):c.2599C>A (p.Arg867=) rs144484744
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744
NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.3(COL6A2):c.2607C>T (p.Asp869=) rs150219725
NM_001849.3(COL6A2):c.2610C>T (p.Asp870=) rs116817879
NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.2628C>T (p.Arg876=)
NM_001849.3(COL6A2):c.2629G>A (p.Val877Met) rs369396198
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.2634G>A (p.Ala878=) rs143749884
NM_001849.3(COL6A2):c.2656G>A (p.Gly886Ser) rs571488000
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=) rs148249892
NM_001849.3(COL6A2):c.267G>C (p.Gln89His)
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2711C>T (p.Ala904Val) rs376665722
NM_001849.3(COL6A2):c.2713C>T (p.Leu905=) rs753611948
NM_001849.3(COL6A2):c.2738_2740delCCT (p.Ser913del) rs777696289
NM_001849.3(COL6A2):c.2749G>A (p.Val917Met) rs145381639
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2766G>A (p.Val922=) rs557446829
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652
NM_001849.3(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756
NM_001849.3(COL6A2):c.2784C>T (p.Ile928=) rs199501232
NM_001849.3(COL6A2):c.2785G>A (p.Val929Met) rs145527336
NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=) rs373274913
NM_001849.3(COL6A2):c.2798G>A (p.Arg933His) rs374384263
NM_001849.3(COL6A2):c.2802C>T (p.Gly934=) rs151295731
NM_001849.3(COL6A2):c.2804G>A (p.Gly935Glu)
NM_001849.3(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246
NM_001849.3(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703
NM_001849.3(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.3(COL6A2):c.2850C>T (p.Gly950=) rs751192681
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=) rs138074469
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.3(COL6A2):c.2877G>T (p.Glu959Asp)
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=) rs375430758
NM_001849.3(COL6A2):c.2886C>T (p.His962=) rs115970356
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=) rs61735833
NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.3(COL6A2):c.289G>A (p.Gly97Ser) rs750027302
NM_001849.3(COL6A2):c.2902_2934dup (p.Ser978_Asp979insAsnValValProThrValLeuAlaLeuGlySer)
NM_001849.3(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.3(COL6A2):c.2917G>A (p.Val973Met) rs145959270
NM_001849.3(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671
NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) rs150716220
NM_001849.3(COL6A2):c.2944A>G (p.Met982Val) rs190664941
NM_001849.3(COL6A2):c.2960C>T (p.Thr987Met) rs199955442
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.2982C>T (p.Ala994=) rs145460820
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) rs142432514
NM_001849.3(COL6A2):c.2988dup (p.Phe997Valfs) rs1555877364
NM_001849.3(COL6A2):c.2994C>T (p.His998=) rs376362856
NM_001849.3(COL6A2):c.2997G>A (p.Glu999=) rs751494076
NM_001849.3(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952
NM_001849.3(COL6A2):c.3026G>T (p.Gly1009Val)
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_001849.3(COL6A2):c.3047G>A (p.Arg1016His) rs376368468
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.333G>A (p.Pro111=) rs370531466
NM_001849.3(COL6A2):c.340G>A (p.Asp114Asn) rs969934621
NM_001849.3(COL6A2):c.344G>A (p.Arg115Gln) rs145352569
NM_001849.3(COL6A2):c.422T>C (p.Met141Thr)
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
NM_001849.3(COL6A2):c.483C>T (p.Thr161=) rs138312213
NM_001849.3(COL6A2):c.487G>A (p.Gly163Ser) rs769456044
NM_001849.3(COL6A2):c.492C>T (p.His164=) rs140929054
NM_001849.3(COL6A2):c.499G>A (p.Gly167Ser) rs115957676
NM_001849.3(COL6A2):c.510C>T (p.Cys170=) rs142328765
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) rs200710788
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.544G>A (p.Glu182Lys)
NM_001849.3(COL6A2):c.557G>A (p.Arg186Gln)
NM_001849.3(COL6A2):c.581A>G (p.Gln194Arg) rs113509166
NM_001849.3(COL6A2):c.623C>T (p.Pro208Leu)
NM_001849.3(COL6A2):c.624G>A (p.Pro208=) rs146333253
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys) rs113017484
NM_001849.3(COL6A2):c.638G>A (p.Arg213His) rs368064647
NM_001849.3(COL6A2):c.641_645delACGAC (p.Asn214Ilefs) rs1375040481
NM_001849.3(COL6A2):c.643G>A (p.Asp215Asn) rs563449281
NM_001849.3(COL6A2):c.672C>T (p.Thr224=) rs759388890
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.3(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505
NM_001849.3(COL6A2):c.698G>A (p.Arg233His) rs146742517
NM_001849.3(COL6A2):c.714+10G>A rs777394169
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.735+7G>A rs575365107
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.790C>T (p.Arg264Cys) rs760263812
NM_001849.3(COL6A2):c.791G>A (p.Arg264His) rs148029276
NM_001849.3(COL6A2):c.801+1G>A rs794727715
NM_001849.3(COL6A2):c.812G>T (p.Gly271Val) rs794727788
NM_001849.3(COL6A2):c.81G>A (p.Ser27=) rs111639540
NM_001849.3(COL6A2):c.827C>T (p.Pro276Leu) rs757488307
NM_001849.3(COL6A2):c.828G>A (p.Pro276=) rs140790797
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.3(COL6A2):c.839G>A (p.Gly280Asp)
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.863C>T (p.Pro288Leu) rs745566911
NM_001849.3(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.3(COL6A2):c.881T>C (p.Ile294Thr)
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.3(COL6A2):c.942C>T (p.Ala314=) rs531713008
NM_001849.3(COL6A2):c.955-3_955-1delinsAA
NM_001849.3(COL6A2):c.978G>A (p.Lys326=) rs1480541163
NM_001849.3(COL6A2):c.981C>T (p.Asn327=) rs768836349
NM_001849.3(COL6A2):c.987C>T (p.Thr329=) rs748215430
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) rs139399166
NM_001849.3(COL6A2):c.999+7G>A rs199783099
NM_004369.3(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1061G>A (p.Ser354Asn) rs1416475329
NM_004369.3(COL6A3):c.1065C>T (p.Ala355=) rs115155458
NM_004369.3(COL6A3):c.1069C>A (p.Pro357Thr)
NM_004369.3(COL6A3):c.107C>T (p.Ala36Val) rs572020866
NM_004369.3(COL6A3):c.1120G>A (p.Val374Met) rs780353083
NM_004369.3(COL6A3):c.1131C>G (p.Phe377Leu)
NM_004369.3(COL6A3):c.1131C>T (p.Phe377=) rs189772397
NM_004369.3(COL6A3):c.1149C>T (p.Ala383=) rs139016980
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1204G>C (p.Val402Leu) rs746277006
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) rs114511558
NM_004369.3(COL6A3):c.1293G>A (p.Pro431=) rs376912950
NM_004369.3(COL6A3):c.1312+7A>G rs949869773
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.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.1538G>A (p.Arg513Gln) rs139498556
NM_004369.3(COL6A3):c.1566C>A (p.Ala522=) rs771948237
NM_004369.3(COL6A3):c.1575G>A (p.Thr525=)
NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) rs34741387
NM_004369.3(COL6A3):c.1614G>A (p.Thr538=) rs535142787
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.1639G>A (p.Glu547Lys) rs1278327904
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.1699C>T (p.Gln567Ter)
NM_004369.3(COL6A3):c.1740T>G (p.Phe580Leu) rs1553562483
NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) rs34978064
NM_004369.3(COL6A3):c.1785C>G (p.Ile595Met) rs114278376
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.1833C>T (p.Ala611=) rs368242683
NM_004369.3(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185
NM_004369.3(COL6A3):c.186A>G (p.Leu62=) rs773733833
NM_004369.3(COL6A3):c.1897+1G>T
NM_004369.3(COL6A3):c.1914G>A (p.Arg638=) rs34904623
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.2000A>G (p.Asn667Ser)
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.2147G>A (p.Gly716Asp) rs144514259
NM_004369.3(COL6A3):c.2148C>T (p.Gly716=)
NM_004369.3(COL6A3):c.2180A>G (p.Tyr727Cys)
NM_004369.3(COL6A3):c.218A>G (p.Glu73Gly)
NM_004369.3(COL6A3):c.2195C>T (p.Thr732Met)
NM_004369.3(COL6A3):c.2206G>A (p.Gly736Ser) rs150008830
NM_004369.3(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2306C>T (p.Ala769Val) rs753966526
NM_004369.3(COL6A3):c.2307G>A (p.Ala769=)
NM_004369.3(COL6A3):c.2393T>C (p.Leu798Pro)
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>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
NM_004369.3(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.3(COL6A3):c.2517G>A (p.Leu839=) rs187237497
NM_004369.3(COL6A3):c.2529C>T (p.Asp843=) rs556079869
NM_004369.3(COL6A3):c.2620C>T (p.Arg874Ter) rs1553561409
NM_004369.3(COL6A3):c.2666G>A (p.Arg889His)
NM_004369.3(COL6A3):c.2729C>T (p.Thr910Met)
NM_004369.3(COL6A3):c.2845G>A (p.Ala949Thr)
NM_004369.3(COL6A3):c.2864G>A (p.Arg955His) rs112172548
NM_004369.3(COL6A3):c.2895G>T (p.Gln965His) rs775993027
NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) rs76646066
NM_004369.3(COL6A3):c.2958C>G (p.Ile986Met) rs145203676
NM_004369.3(COL6A3):c.2972C>T (p.Ala991Val) rs202185764
NM_004369.3(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
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.3071-7C>T rs370229367
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.3117C>T (p.Gly1039=) rs922629653
NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077
NM_004369.3(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
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.3199G>A (p.Val1067Met) rs148175795
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257
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.3271G>A (p.Val1091Ile)
NM_004369.3(COL6A3):c.3274G>A (p.Val1092Ile) rs576798969
NM_004369.3(COL6A3):c.3287G>A (p.Arg1096His) rs200860322
NM_004369.3(COL6A3):c.3336G>A (p.Leu1112=) rs1553560545
NM_004369.3(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.3424G>A (p.Asp1142Asn) rs777599612
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.3456C>T (p.Ser1152=) rs112815265
NM_004369.3(COL6A3):c.3498C>A (p.Gly1166=) rs1553560457
NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) rs137910388
NM_004369.3(COL6A3):c.3545C>T (p.Pro1182Leu) rs768064422
NM_004369.3(COL6A3):c.3556G>A (p.Val1186Met)
NM_004369.3(COL6A3):c.3598G>T (p.Val1200Phe) rs779028054
NM_004369.3(COL6A3):c.3654G>A (p.Pro1218=) rs778039312
NM_004369.3(COL6A3):c.3699C>T (p.Asp1233=) rs542411896
NM_004369.3(COL6A3):c.3700G>A (p.Val1234Met)
NM_004369.3(COL6A3):c.3725A>C (p.Gln1242Pro) rs1553559646
NM_004369.3(COL6A3):c.3741G>C (p.Glu1247Asp) rs577927810
NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208
NM_004369.3(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127
NM_004369.3(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.3(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496
NM_004369.3(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440
NM_004369.3(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625
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.4032G>A (p.Ser1344=) rs145048734
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.4108G>A (p.Ala1370Thr) rs372234605
NM_004369.3(COL6A3):c.4110C>T (p.Ala1370=) rs1553559241
NM_004369.3(COL6A3):c.4116C>T (p.Asn1372=) rs369620378
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.413C>T (p.Ala138Val)
NM_004369.3(COL6A3):c.4145C>T (p.Ser1382Leu)
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998
NM_004369.3(COL6A3):c.4270C>T (p.Arg1424Cys) rs768522226
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4306G>C (p.Asp1436His) rs1168273415
NM_004369.3(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743
NM_004369.3(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094
NM_004369.3(COL6A3):c.4431C>T (p.Val1477=) rs151289203
NM_004369.3(COL6A3):c.4432G>A (p.Val1478Met) rs374493032
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
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.4534T>A (p.Ser1512Thr) rs1553557796
NM_004369.3(COL6A3):c.4604G>A (p.Arg1535His)
NM_004369.3(COL6A3):c.460T>A (p.Ser154Thr)
NM_004369.3(COL6A3):c.4617G>A (p.Gly1539=) rs1420997887
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.4683G>A (p.Gln1561=) rs113074898
NM_004369.3(COL6A3):c.4684G>T (p.Val1562Leu) rs1553557605
NM_004369.3(COL6A3):c.4691G>A (p.Arg1564His) rs368151192
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.4729A>G (p.Asn1577Asp)
NM_004369.3(COL6A3):c.4742C>G (p.Thr1581Arg) rs1156524068
NM_004369.3(COL6A3):c.4787T>C (p.Val1596Ala)
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.4873G>T (p.Val1625Leu) 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+9C>T rs117345850
NM_004369.3(COL6A3):c.4917C>G (p.Asp1639Glu) rs1553556773
NM_004369.3(COL6A3):c.4922T>A (p.Val1641Glu)
NM_004369.3(COL6A3):c.4994T>C (p.Ile1665Thr) rs1034783532
NM_004369.3(COL6A3):c.5019C>T (p.Gly1673=) rs140516220
NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032
NM_004369.3(COL6A3):c.5068G>A (p.Glu1690Lys) rs144451523
NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) rs34340053
NM_004369.3(COL6A3):c.5128G>A (p.Val1710Ile) rs773631759
NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) rs114338020
NM_004369.3(COL6A3):c.5165G>A (p.Gly1722Asp) rs1553556546
NM_004369.3(COL6A3):c.5179C>T (p.Arg1727Trp) rs143074017
NM_004369.3(COL6A3):c.5180G>A (p.Arg1727Gln)
NM_004369.3(COL6A3):c.5224C>T (p.Arg1742Trp)
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.5308G>C (p.Gly1770Arg)
NM_004369.3(COL6A3):c.5326G>T (p.Val1776Phe) rs754788931
NM_004369.3(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965
NM_004369.3(COL6A3):c.5348C>T (p.Ser1783Leu)
NM_004369.3(COL6A3):c.5394C>T (p.Arg1798=) rs202086524
NM_004369.3(COL6A3):c.5504G>C (p.Cys1835Ser)
NM_004369.3(COL6A3):c.5534G>C (p.Gly1845Ala) rs747200439
NM_004369.3(COL6A3):c.5552T>C (p.Val1851Ala)
NM_004369.3(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443
NM_004369.3(COL6A3):c.5646G>T (p.Ser1882=) rs886055807
NM_004369.3(COL6A3):c.5652C>T (p.Thr1884=) rs200285455
NM_004369.3(COL6A3):c.5657G>A (p.Arg1886His) rs368379003
NM_004369.3(COL6A3):c.5678C>T (p.Thr1893Met)
NM_004369.3(COL6A3):c.5680C>T (p.Pro1894Ser) rs112540218
NM_004369.3(COL6A3):c.5681C>T (p.Pro1894Leu)
NM_004369.3(COL6A3):c.5690C>T (p.Pro1897Leu) rs370806359
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.5743C>T (p.Arg1915Trp) rs201938007
NM_004369.3(COL6A3):c.5752C>A (p.Arg1918Ser) rs750367811
NM_004369.3(COL6A3):c.576G>A (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.5770G>A (p.Val1924Ile) rs778162038
NM_004369.3(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.3(COL6A3):c.581A>G (p.Asn194Ser)
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.5838+5G>A rs1553555753
NM_004369.3(COL6A3):c.5839-3C>T rs112825341
NM_004369.3(COL6A3):c.5869G>A (p.Gly1957Arg) rs554219567
NM_004369.3(COL6A3):c.5877G>C (p.Leu1959=) rs752905591
NM_004369.3(COL6A3):c.5909G>A (p.Arg1970His) rs368635334
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.5977C>T (p.His1993Tyr)
NM_004369.3(COL6A3):c.6001A>G (p.Met2001Val)
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6094G>T (p.Val2032Phe)
NM_004369.3(COL6A3):c.6105G>A (p.Lys2035=) rs35556524
NM_004369.3(COL6A3):c.6117G>C (p.Gln2039His) rs750063736
NM_004369.3(COL6A3):c.6129C>T (p.Arg2043=) rs576524993
NM_004369.3(COL6A3):c.6130G>A (p.Gly2044Arg)
NM_004369.3(COL6A3):c.6138C>T (p.Ile2046=) rs115401779
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.6182G>A (p.Arg2061Gln) rs376715966
NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6210C>T (p.Pro2070=) rs774374140
NM_004369.3(COL6A3):c.6211-3C>T rs139622600
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6212_6309+28del rs1553553313
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.6230G>T (p.Gly2077Val) rs1553553646
NM_004369.3(COL6A3):c.6237C>T (p.Asn2079=) rs34390834
NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.3(COL6A3):c.6242C>G (p.Thr2081Ser)
NM_004369.3(COL6A3):c.624C>T (p.Asp208=) rs757316338
NM_004369.3(COL6A3):c.6263C>T (p.Pro2088Leu)
NM_004369.3(COL6A3):c.6289C>T (p.Arg2097Trp) rs148252611
NM_004369.3(COL6A3):c.6309+1G>A
NM_004369.3(COL6A3):c.6310-2A>G
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6372T>C (p.Pro2124=) rs894679602
NM_004369.3(COL6A3):c.6422C>A (p.Pro2141His) rs369169235
NM_004369.3(COL6A3):c.6452T>C (p.Val2151Ala)
NM_004369.3(COL6A3):c.6528C>T (p.Leu2176=) rs560225578
NM_004369.3(COL6A3):c.6592G>A (p.Gly2198Ser)
NM_004369.3(COL6A3):c.6613C>A (p.Pro2205Thr) rs748768672
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715
NM_004369.3(COL6A3):c.6654G>T (p.Pro2218=) rs147537071
NM_004369.3(COL6A3):c.6677C>T (p.Thr2226Ile) rs376621780
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6769G>A (p.Ala2257Thr) rs372154635
NM_004369.3(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513
NM_004369.3(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655
NM_004369.3(COL6A3):c.686C>T (p.Thr229Met) rs141586922
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.6902T>C (p.Val2301Ala)
NM_004369.3(COL6A3):c.6920G>C (p.Arg2307Thr) rs778845754
NM_004369.3(COL6A3):c.6930+4C>T rs375657891
NM_004369.3(COL6A3):c.6956C>T (p.Pro2319Leu) rs751617505
NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.709G>A (p.Ala237Thr) rs1553564820
NM_004369.3(COL6A3):c.7103G>A (p.Gly2368Asp) rs746420745
NM_004369.3(COL6A3):c.7107C>T (p.Asn2369=) rs1410340783
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.7173C>T (p.Tyr2391=) rs114248590
NM_004369.3(COL6A3):c.7175-6C>G rs199723531
NM_004369.3(COL6A3):c.7192G>A (p.Val2398Ile)
NM_004369.3(COL6A3):c.7212C>T (p.Ala2404=) rs1162382032
NM_004369.3(COL6A3):c.7256G>C (p.Gly2419Ala) rs1339553173
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004369.3(COL6A3):c.7266A>C (p.Arg2422=) rs778691629
NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) rs116729313
NM_004369.3(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176
NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=) rs10084221
NM_004369.3(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.3(COL6A3):c.7359G>A (p.Glu2453=) rs114199044
NM_004369.3(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956
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.7402G>A (p.Val2468Ile) rs527516269
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.7475C>T (p.Ser2492Leu) rs754480145
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
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.7551C>T (p.Asn2517=) rs570963533
NM_004369.3(COL6A3):c.7575G>A (p.Gln2525=) rs752232293
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870
NM_004369.3(COL6A3):c.7668G>T (p.Gln2556His) rs1553547891
NM_004369.3(COL6A3):c.7670T>A (p.Ile2557Asn)
NM_004369.3(COL6A3):c.7687G>A (p.Gly2563Arg) rs780964113
NM_004369.3(COL6A3):c.768C>T (p.Val256=) rs79606264
NM_004369.3(COL6A3):c.76C>T (p.Gln26Ter) rs763187844
NM_004369.3(COL6A3):c.7702C>T (p.Leu2568=) rs201479636
NM_004369.3(COL6A3):c.7749G>A (p.Thr2583=) rs758582935
NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) rs144249704
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.7928C>T (p.Ala2643Val) rs111595697
NM_004369.3(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.3(COL6A3):c.7953G>A (p.Met2651Ile) rs369537287
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.8009C>T (p.Ala2670Val) rs142851023
NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) rs79313758
NM_004369.3(COL6A3):c.8137A>G (p.Arg2713Gly) rs772602377
NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) rs35763271
NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028
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.8201G>A (p.Arg2734Gln) rs115116398
NM_004369.3(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706
NM_004369.3(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8416G>A (p.Glu2806Lys)
NM_004369.3(COL6A3):c.8437G>A (p.Gly2813Arg) rs146131332
NM_004369.3(COL6A3):c.8440A>T (p.Arg2814Trp) rs1553546042
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.8465-7delT rs111494366
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
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.8621C>T (p.Thr2874Met) rs779335085
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.8644C>T (p.Pro2882Ser) rs1553544899
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.8744C>T (p.Ala2915Val) rs751532649
NM_004369.3(COL6A3):c.8745G>A (p.Ala2915=) rs112382351
NM_004369.3(COL6A3):c.8750C>A (p.Pro2917His)
NM_004369.3(COL6A3):c.878T>C (p.Met293Thr)
NM_004369.3(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669
NM_004369.3(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456
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.8861C>T (p.Pro2954Leu)
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.8977C>T (p.Arg2993Cys)
NM_004369.3(COL6A3):c.8978G>A (p.Arg2993His) rs201888442
NM_004369.3(COL6A3):c.898_900delTCC (p.Ser300del) rs554176183
NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668
NM_004369.3(COL6A3):c.9041C>T (p.Pro3014Leu) rs758774990
NM_004369.3(COL6A3):c.9045C>T (p.Pro3015=) rs144834964
NM_004369.3(COL6A3):c.9059A>G (p.Tyr3020Cys)
NM_004369.3(COL6A3):c.9061_9063delGAC (p.Asp3021del)
NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.9087T>A (p.Asp3029Glu) rs1553544136
NM_004369.3(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315
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.9148G>A (p.Ala3050Thr) rs114596320
NM_004369.3(COL6A3):c.9209A>G (p.Tyr3070Cys) rs368568929
NM_004369.3(COL6A3):c.9229+4A>C
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.3(COL6A3):c.9250C>T (p.Pro3084Ser)
NM_004369.3(COL6A3):c.9344C>T (p.Pro3115Leu) rs138109666
NM_004369.3(COL6A3):c.9351C>T (p.Asp3117=) rs148821986
NM_004369.3(COL6A3):c.936C>T (p.Leu312=) rs377629176
NM_004369.3(COL6A3):c.9374T>C (p.Ile3125Thr)
NM_004369.3(COL6A3):c.9407G>A (p.Ser3136Asn) rs759514583
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.3(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515
NM_004369.3(COL6A3):c.9494-2A>G
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.958G>A (p.Ala320Thr) rs115819851
NM_004369.3(COL6A3):c.984C>T (p.Phe328=) rs768609958
NM_004370.5(COL12A1):c.100A>G (p.Lys34Glu)
NM_004370.5(COL12A1):c.1053G>T (p.Lys351Asn)
NM_004370.5(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.5(COL12A1):c.113A>C (p.Glu38Ala)
NM_004370.5(COL12A1):c.1152T>C (p.Pro384=) rs200496785
NM_004370.5(COL12A1):c.1175G>A (p.Arg392His) rs755195861
NM_004370.5(COL12A1):c.1176C>T (p.Arg392=) rs751787368
NM_004370.5(COL12A1):c.1177G>A (p.Asp393Asn)
NM_004370.5(COL12A1):c.1186G>A (p.Ala396Thr)
NM_004370.5(COL12A1):c.1276A>G (p.Lys426Glu)
NM_004370.5(COL12A1):c.132A>G (p.Ser44=) rs201454637
NM_004370.5(COL12A1):c.1356G>T (p.Gly452=)
NM_004370.5(COL12A1):c.1434G>C (p.Gln478His)
NM_004370.5(COL12A1):c.1471G>C (p.Glu491Gln)
NM_004370.5(COL12A1):c.1551A>G (p.Thr517=) rs34767467
NM_004370.5(COL12A1):c.1644C>A (p.Ile548=) rs147111006
NM_004370.5(COL12A1):c.1775C>T (p.Ala592Val)
NM_004370.5(COL12A1):c.177G>A (p.Val59=) rs772158281
NM_004370.5(COL12A1):c.1783C>A (p.His595Asn) rs370544100
NM_004370.5(COL12A1):c.188C>T (p.Thr63Met)
NM_004370.5(COL12A1):c.1892-4dup
NM_004370.5(COL12A1):c.1892-6_1892-5insG
NM_004370.5(COL12A1):c.1892-7T>C rs779185109
NM_004370.5(COL12A1):c.1892-7_1892-6insC rs34433354
NM_004370.5(COL12A1):c.1892-8_1892-6delTTA rs199713791
NM_004370.5(COL12A1):c.1896C>T (p.Tyr632=) rs201266825
NM_004370.5(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.5(COL12A1):c.1988A>G (p.His663Arg) rs764241362
NM_004370.5(COL12A1):c.2006C>T (p.Ala669Val) rs201657576
NM_004370.5(COL12A1):c.2007G>A (p.Ala669=) rs77790445
NM_004370.5(COL12A1):c.2038C>G (p.Pro680Ala)
NM_004370.5(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.5(COL12A1):c.2055T>C (p.Ser685=) rs780620827
NM_004370.5(COL12A1):c.2086T>C (p.Leu696=) rs116691242
NM_004370.5(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051
NM_004370.5(COL12A1):c.2180G>A (p.Arg727Gln)
NM_004370.5(COL12A1):c.226A>G (p.Thr76Ala)
NM_004370.5(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088
NM_004370.5(COL12A1):c.2314C>T (p.Pro772Ser)
NM_004370.5(COL12A1):c.2324G>A (p.Arg775Lys)
NM_004370.5(COL12A1):c.2374G>A (p.Val792Ile)
NM_004370.5(COL12A1):c.2480C>T (p.Thr827Met) rs149832668
NM_004370.5(COL12A1):c.2481G>A (p.Thr827=) rs35170847
NM_004370.5(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321
NM_004370.5(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.5(COL12A1):c.2569C>G (p.Gln857Glu)
NM_004370.5(COL12A1):c.2588G>A (p.Gly863Glu)
NM_004370.5(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.5(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.5(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636
NM_004370.5(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.5(COL12A1):c.2714G>A (p.Arg905His)
NM_004370.5(COL12A1):c.2772T>C (p.Tyr924=) rs35429515
NM_004370.5(COL12A1):c.2879C>T (p.Thr960Met) rs200698641
NM_004370.5(COL12A1):c.292G>A (p.Asp98Asn) rs558571598
NM_004370.5(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405
NM_004370.5(COL12A1):c.2968G>T (p.Asp990Tyr)
NM_004370.5(COL12A1):c.29_30delCCinsAA (p.Ala10Glu)
NM_004370.5(COL12A1):c.3021A>G (p.Glu1007=) rs368940290
NM_004370.5(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260
NM_004370.5(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883
NM_004370.5(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681
NM_004370.5(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385
NM_004370.5(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055
NM_004370.5(COL12A1):c.3467A>T (p.Asn1156Ile)
NM_004370.5(COL12A1):c.3534C>T (p.Ser1178=) rs747982811
NM_004370.5(COL12A1):c.3630C>T (p.Ile1210=) rs572531941
NM_004370.5(COL12A1):c.3638C>A (p.Ala1213Glu)
NM_004370.5(COL12A1):c.3650C>A (p.Thr1217Asn)
NM_004370.5(COL12A1):c.3651C>T (p.Thr1217=) rs140319205
NM_004370.5(COL12A1):c.3670C>T (p.Arg1224Cys)
NM_004370.5(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.5(COL12A1):c.3782G>A (p.Ser1261Asn)
NM_004370.5(COL12A1):c.3798G>C (p.Val1266=) rs1210652893
NM_004370.5(COL12A1):c.3810G>A (p.Pro1270=) rs370675782
NM_004370.5(COL12A1):c.3814A>G (p.Lys1272Glu)
NM_004370.5(COL12A1):c.3835+4A>G
NM_004370.5(COL12A1):c.3892C>A (p.Pro1298Thr)
NM_004370.5(COL12A1):c.3899C>T (p.Ala1300Val)
NM_004370.5(COL12A1):c.3905A>G (p.Lys1302Arg)
NM_004370.5(COL12A1):c.3928G>C (p.Gly1310Arg)
NM_004370.5(COL12A1):c.395-2A>C
NM_004370.5(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.5(COL12A1):c.3994delG (p.Ala1332Leufs) rs1554182935
NM_004370.5(COL12A1):c.4000+5G>A rs181257320
NM_004370.5(COL12A1):c.4001-10G>A rs73749974
NM_004370.5(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.5(COL12A1):c.4010A>G (p.Asn1337Ser)
NM_004370.5(COL12A1):c.4052A>G (p.Asp1351Gly)
NM_004370.5(COL12A1):c.4070A>G (p.Asn1357Ser)
NM_004370.5(COL12A1):c.4186C>A (p.Arg1396=) rs115511838
NM_004370.5(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422
NM_004370.5(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189
NM_004370.5(COL12A1):c.42G>A (p.Ala14=)
NM_004370.5(COL12A1):c.4312A>G (p.Ser1438Gly)
NM_004370.5(COL12A1):c.4371G>T (p.Val1457=) rs761741355
NM_004370.5(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178
NM_004370.5(COL12A1):c.4445T>C (p.Ile1482Thr)
NM_004370.5(COL12A1):c.4479G>A (p.Gln1493=) rs370024636
NM_004370.5(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424
NM_004370.5(COL12A1):c.4676T>C (p.Val1559Ala)
NM_004370.5(COL12A1):c.469A>G (p.Lys157Glu)
NM_004370.5(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.5(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.5(COL12A1):c.4853G>T (p.Ser1618Ile)
NM_004370.5(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847
NM_004370.5(COL12A1):c.4917C>T (p.Asp1639=) rs80102965
NM_004370.5(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973
NM_004370.5(COL12A1):c.4958-7A>C rs1332779
NM_004370.5(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593
NM_004370.5(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246
NM_004370.5(COL12A1):c.5093T>C (p.Met1698Thr)
NM_004370.5(COL12A1):c.5098-5C>T rs766762283
NM_004370.5(COL12A1):c.5133C>T (p.Phe1711=) rs180961776
NM_004370.5(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.5(COL12A1):c.5225G>A (p.Arg1742His) rs79830915
NM_004370.5(COL12A1):c.5230+1G>A
NM_004370.5(COL12A1):c.525G>A (p.Glu175=) rs199736979
NM_004370.5(COL12A1):c.5308A>G (p.Thr1770Ala)
NM_004370.5(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467
NM_004370.5(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.5(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239
NM_004370.5(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.5(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604
NM_004370.5(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.5(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.5(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408
NM_004370.5(COL12A1):c.5508G>A (p.Thr1836=) rs77425231
NM_004370.5(COL12A1):c.5547C>A (p.Asn1849Lys)
NM_004370.5(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.5(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309
NM_004370.5(COL12A1):c.5615G>A (p.Arg1872His)
NM_004370.5(COL12A1):c.5676C>T (p.Pro1892=) rs200130428
NM_004370.5(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364
NM_004370.5(COL12A1):c.5767G>A (p.Gly1923Arg)
NM_004370.5(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.5(COL12A1):c.5850C>T (p.Leu1950=) rs779833436
NM_004370.5(COL12A1):c.5873C>G (p.Pro1958Arg)
NM_004370.5(COL12A1):c.5874A>G (p.Pro1958=) rs186035636
NM_004370.5(COL12A1):c.5881G>A (p.Val1961Met)
NM_004370.5(COL12A1):c.5883G>C (p.Val1961=) rs368930149
NM_004370.5(COL12A1):c.5893C>A (p.Arg1965Ser)
NM_004370.5(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.5(COL12A1):c.5954A>G (p.Asn1985Ser)
NM_004370.5(COL12A1):c.5978G>A (p.Arg1993Gln)
NM_004370.5(COL12A1):c.597A>G (p.Gln199=) rs368715192
NM_004370.5(COL12A1):c.5987C>T (p.Pro1996Leu)
NM_004370.5(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761
NM_004370.5(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461
NM_004370.5(COL12A1):c.6070C>T (p.Pro2024Ser)
NM_004370.5(COL12A1):c.607C>A (p.Leu203Ile) rs375673671
NM_004370.5(COL12A1):c.6100T>C (p.Phe2034Leu)
NM_004370.5(COL12A1):c.6120C>T (p.Ser2040=) rs200570792
NM_004370.5(COL12A1):c.6198A>C (p.Pro2066=) rs34619869
NM_004370.5(COL12A1):c.626A>C (p.Lys209Thr) rs75535959
NM_004370.5(COL12A1):c.6281C>A (p.Thr2094Asn) rs201567848
NM_004370.5(COL12A1):c.6345A>G (p.Gly2115=) rs553575841
NM_004370.5(COL12A1):c.6444A>T (p.Ile2148=) rs36002196
NM_004370.5(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866
NM_004370.5(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808
NM_004370.5(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107
NM_004370.5(COL12A1):c.6608T>C (p.Leu2203Ser)
NM_004370.5(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303
NM_004370.5(COL12A1):c.6652G>C (p.Asp2218His)
NM_004370.5(COL12A1):c.6660C>G (p.Phe2220Leu)
NM_004370.5(COL12A1):c.6752G>A (p.Arg2251His) rs151324784
NM_004370.5(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372
NM_004370.5(COL12A1):c.6889G>A (p.Ala2297Thr)
NM_004370.5(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.5(COL12A1):c.6919C>T (p.Pro2307Ser)
NM_004370.5(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.5(COL12A1):c.7025T>C (p.Val2342Ala)
NM_004370.5(COL12A1):c.7048G>T (p.Val2350Leu)
NM_004370.5(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.5(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495
NM_004370.5(COL12A1):c.7269G>A (p.Lys2423=) rs776372586
NM_004370.5(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.5(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.5(COL12A1):c.7338G>T (p.Leu2446Phe)
NM_004370.5(COL12A1):c.741T>G (p.Ile247Met)
NM_004370.5(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511
NM_004370.5(COL12A1):c.7541A>G (p.Asp2514Gly)
NM_004370.5(COL12A1):c.7569G>A (p.Met2523Ile)
NM_004370.5(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285
NM_004370.5(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072
NM_004370.5(COL12A1):c.7840+9T>G rs774128333
NM_004370.5(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.5(COL12A1):c.7854G>C (p.Thr2618=) rs190984968
NM_004370.5(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.5(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.5(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101
NM_004370.5(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763
NM_004370.5(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492
NM_004370.5(COL12A1):c.8179-10A>G rs142509363
NM_004370.5(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939
NM_004370.5(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.5(COL12A1):c.8336G>A (p.Arg2779His)
NM_004370.5(COL12A1):c.834T>G (p.Ala278=) rs16886258
NM_004370.5(COL12A1):c.8361_8378delCCAGGGTCCTCCAGGCCC (p.Pro2791_Pro2796del)
NM_004370.5(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579
NM_004370.5(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131
NM_004370.5(COL12A1):c.8420G>A (p.Arg2807His) rs186328815
NM_004370.5(COL12A1):c.8421C>T (p.Arg2807=) rs371949188
NM_004370.5(COL12A1):c.8465G>A (p.Arg2822Gln)
NM_004370.5(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.5(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.5(COL12A1):c.8495C>G (p.Pro2832Arg)
NM_004370.5(COL12A1):c.8501C>G (p.Pro2834Arg)
NM_004370.5(COL12A1):c.8524-3T>C
NM_004370.5(COL12A1):c.8548A>G (p.Met2850Val)
NM_004370.5(COL12A1):c.8565A>G (p.Pro2855=) rs202239067
NM_004370.5(COL12A1):c.8622A>G (p.Pro2874=) rs368321891
NM_004370.5(COL12A1):c.8639A>G (p.His2880Arg) rs185171880
NM_004370.5(COL12A1):c.8686-5A>T rs749754621
NM_004370.5(COL12A1):c.8751T>A (p.Ser2917Arg)
NM_004370.5(COL12A1):c.8831C>T (p.Pro2944Leu)
NM_004370.5(COL12A1):c.8841G>A (p.Pro2947=) rs767339128
NM_004370.5(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.5(COL12A1):c.8875C>T (p.Pro2959Ser)
NM_004370.5(COL12A1):c.8885G>C (p.Gly2962Ala)
NM_004370.5(COL12A1):c.8925A>G (p.Gly2975=) rs190820180
NM_004370.5(COL12A1):c.8970T>C (p.Gly2990=) rs190501064
NM_004370.5(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477
NM_004370.5(COL12A1):c.9006C>T (p.Pro3002=) rs184663595
NM_004370.5(COL12A1):c.9076C>G (p.Pro3026Ala)
NM_004370.5(COL12A1):c.9083G>A (p.Arg3028His) rs41266761
NM_004370.5(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.5(COL12A1):c.9146G>A (p.Cys3049Tyr)
NM_004370.5(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916
NM_004370.5(COL12A1):c.9187G>A (p.Gly3063Ser)
NM_004370.5(COL12A1):c.922A>T (p.Ile308Phe)
NM_080645.2(COL12A1):c.1796A>G (p.Asn599Ser) rs755536829

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