ClinVar Miner

List of variants in gene COL6A2 studied for Bethlem myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 544
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HGVS dbSNP
NC_000021.9:g.(?_46111457)_(46121143_?)del
NC_000021.9:g.(?_46111467)_(46112834_?)dup
NC_000021.9:g.(?_46111467)_(46121133_?)del
NC_000021.9:g.(?_46111477)_(46121123_?)del
NC_000021.9:g.(?_46113998)_(46116063_?)dup
NM_001849.3(COL6A2):c.*56T>G rs148337125
NM_001849.3(COL6A2):c.*5G>A rs377195134
NM_001849.3(COL6A2):c.-91_3071dup
NM_001849.3(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1000-2A>G rs1555873356
NM_001849.3(COL6A2):c.1012C>T (p.Arg338Cys) rs775751831
NM_001849.3(COL6A2):c.1013G>A (p.Arg338His) rs760872485
NM_001849.3(COL6A2):c.1017C>T (p.Ile339=) rs766157503
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.3(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637
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.1055del rs1555873507
NM_001849.3(COL6A2):c.1059del (p.Asp354fs) rs1555873508
NM_001849.3(COL6A2):c.1060G>A (p.Asp354Asn) rs188184732
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1071G>A (p.Pro357=) rs746727003
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.1096C>T (p.Arg366Ter) rs387906609
NM_001849.3(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626
NM_001849.3(COL6A2):c.1112G>T (p.Gly371Val) rs1601229481
NM_001849.3(COL6A2):c.1117-3C>T rs772428654
NM_001849.3(COL6A2):c.1117-7C>A rs202094835
NM_001849.3(COL6A2):c.1118G>C (p.Gly373Ala) rs773528946
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+10G>T rs200797233
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.115+6del rs578127995
NM_001849.3(COL6A2):c.1152G>A (p.Pro384=) rs148423929
NM_001849.3(COL6A2):c.116-3C>T rs767597831
NM_001849.3(COL6A2):c.116-6C>T rs761805565
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1180-2A>G rs1601232289
NM_001849.3(COL6A2):c.1181G>C (p.Gly394Ala) rs756966358
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) rs1568931875
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.3(COL6A2):c.1263C>T (p.Gly421=) rs778836612
NM_001849.3(COL6A2):c.1277G>C (p.Arg426Thr) rs760573983
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1294A>T (p.Lys432Ter) rs752730608
NM_001849.3(COL6A2):c.129C>T (p.Cys43=) rs755324001
NM_001849.3(COL6A2):c.1332+10C>T rs886042745
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.1346C>G (p.Pro449Arg) rs886044030
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) rs781742477
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.1395+6G>A rs886042454
NM_001849.3(COL6A2):c.1396-26_1396-10del rs1601237036
NM_001849.3(COL6A2):c.139G>A (p.Val47Met) rs370171967
NM_001849.3(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775
NM_001849.3(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453
NM_001849.3(COL6A2):c.1427C>A (p.Pro476His) rs200482836
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1447C>T (p.Pro483Ser) rs375694341
NM_001849.3(COL6A2):c.1458+3C>T rs794727186
NM_001849.3(COL6A2):c.1458+9_1458+14del rs762583937
NM_001849.3(COL6A2):c.1459-2A>G rs749974929
NM_001849.3(COL6A2):c.1461del (p.Ser488fs) rs398123645
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.1477G>A (p.Gly493Ser) rs553174831
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.1498G>C (p.Asp500His) rs770222615
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.1560C>G (p.Pro520=) rs112197239
NM_001849.3(COL6A2):c.1562G>A (p.Arg521Gln) rs367693258
NM_001849.3(COL6A2):c.1568C>G (p.Ala523Gly) rs769563817
NM_001849.3(COL6A2):c.1585G>A (p.Glu529Lys) rs200667230
NM_001849.3(COL6A2):c.1599C>T (p.Arg533=) rs373635709
NM_001849.3(COL6A2):c.1600G>A (p.Gly534Ser) rs1307667500
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.1616G>A (p.Arg539Gln) rs768933697
NM_001849.3(COL6A2):c.1621G>A (p.Asp541Asn) rs138276378
NM_001849.3(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.3(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639
NM_001849.3(COL6A2):c.1671+9C>T rs186428044
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.169G>A (p.Val57Ile) rs768434256
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu) rs142021066
NM_001849.3(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.3(COL6A2):c.1761C>T (p.Pro587=) rs146311719
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.1806C>A (p.Cys602Ter) rs751987553
NM_001849.3(COL6A2):c.1816+9C>T rs1456625954
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
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.1861G>A (p.Asp621Asn) rs267606750
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607
NM_001849.3(COL6A2):c.188C>T (p.Thr63Met) rs201094892
NM_001849.3(COL6A2):c.1899G>A (p.Leu633=) rs189341312
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
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) rs752366811
NM_001849.3(COL6A2):c.1944C>T (p.Ile648=) rs148178994
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=) rs150253422
NM_001849.3(COL6A2):c.1967C>T (p.Thr656Ile) rs371386355
NM_001849.3(COL6A2):c.1969+10G>C rs201259184
NM_001849.3(COL6A2):c.1969+4A>C rs775997945
NM_001849.3(COL6A2):c.1970-10C>T rs373369963
NM_001849.3(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335
NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014
NM_001849.3(COL6A2):c.2016G>A (p.Glu672=) rs146323303
NM_001849.3(COL6A2):c.2039G>A (p.Arg680His) rs1042917
NM_001849.3(COL6A2):c.2043C>T (p.Ile681=) rs373514837
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395
NM_001849.3(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.3(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.3(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) rs114554195
NM_001849.3(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951
NM_001849.3(COL6A2):c.2158C>T (p.Arg720Cys) rs748592288
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=) rs111938213
NM_001849.3(COL6A2):c.2182G>A (p.Val728Met) rs200585528
NM_001849.3(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.3(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.3(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922
NM_001849.3(COL6A2):c.219C>T (p.Phe73=) rs374336669
NM_001849.3(COL6A2):c.2205C>T (p.His735=) rs755147431
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.2251G>A (p.Asp751Asn) rs375884809
NM_001849.3(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294
NM_001849.3(COL6A2):c.2293G>A (p.Glu765Lys) rs369344885
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.2318A>C (p.Tyr773Ser) rs1601251344
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>C (p.Arg784Pro) rs75120695
NM_001849.3(COL6A2):c.2361G>A (p.Thr787=) rs566966690
NM_001849.3(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.3(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.3(COL6A2):c.2386_2388del (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.2420C>T (p.Pro807Leu) rs768417049
NM_001849.3(COL6A2):c.2422+6C>T rs371950486
NM_001849.3(COL6A2):c.2423-9C>G rs368725753
NM_001849.3(COL6A2):c.2425C>T (p.Pro809Ser) rs1044778936
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.2460A>C (p.Thr820=) rs754900547
NM_001849.3(COL6A2):c.2462-5C>T rs760890154
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.2488C>T (p.Arg830Trp) rs373072443
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940
NM_001849.3(COL6A2):c.2490G>A (p.Arg830=) rs748047522
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.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=) rs149697707
NM_001849.3(COL6A2):c.2524G>A (p.Glu842Lys) rs571051982
NM_001849.3(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198
NM_001849.3(COL6A2):c.2528G>A (p.Arg843Gln) rs201736323
NM_001849.3(COL6A2):c.2538G>A (p.Glu846=) rs144475977
NM_001849.3(COL6A2):c.2557C>T (p.Arg853Trp) rs759689002
NM_001849.3(COL6A2):c.2561G>A (p.Arg854His) rs201035005
NM_001849.3(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.3(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.3(COL6A2):c.2575G>A (p.Val859Met) rs370446082
NM_001849.3(COL6A2):c.2580G>A (p.Ala860=) rs146420786
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975
NM_001849.3(COL6A2):c.2584C>T (p.Arg862Trp) rs777822883
NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) rs200488881
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.2611G>A (p.Asp871Asn) rs387906610
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=) rs372413216
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.2659G>A (p.Glu887Lys) rs886043283
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=) rs148249892
NM_001849.3(COL6A2):c.2671G>A (p.Ala891Thr) rs754110764
NM_001849.3(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2696C>T (p.Thr899Met) rs771341779
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2698G>A (p.Ala900Thr) rs768339045
NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722
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_2740del (p.Ser913del) rs777696289
NM_001849.3(COL6A2):c.2742C>T (p.Phe914=) rs747734639
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.2761G>A (p.Val921Met) rs398123650
NM_001849.3(COL6A2):c.2766G>A (p.Val922=) rs557446829
NM_001849.3(COL6A2):c.2769C>A (p.His923Gln) rs140419176
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.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) rs780505425
NM_001849.3(COL6A2):c.2806G>A (p.Ala936Thr) rs376173871
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.2843C>T (p.Thr948Met) rs367980010
NM_001849.3(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup) rs775193167
NM_001849.3(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208
NM_001849.3(COL6A2):c.284G>A (p.Arg95His) rs886042690
NM_001849.3(COL6A2):c.2850C>T (p.Gly950=) rs751192681
NM_001849.3(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=) rs138074469
NM_001849.3(COL6A2):c.2863G>A (p.Asp955Asn) rs773407652
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.3(COL6A2):c.2875G>C (p.Glu959Gln) rs150168522
NM_001849.3(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.3(COL6A2):c.2879C>T (p.Ser960Leu) rs750097119
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=) rs375430758
NM_001849.3(COL6A2):c.2882C>T (p.Ala961Val) rs138674440
NM_001849.3(COL6A2):c.2886C>T (p.His962=) rs115970356
NM_001849.3(COL6A2):c.2887T>G (p.Ser963Ala) rs771847588
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=) rs61735833
NM_001849.3(COL6A2):c.2892G>A (p.Met964Ile) rs747174626
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.Asn968_Ser978dup) rs1568948073
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.2922G>A (p.Leu974=) rs556385546
NM_001849.3(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671
NM_001849.3(COL6A2):c.2929G>A (p.Gly977Ser) rs370593484
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.2938G>A (p.Val980Met) rs140020002
NM_001849.3(COL6A2):c.2944A>G (p.Met982Val) rs190664941
NM_001849.3(COL6A2):c.2950G>A (p.Val984Met) rs752700701
NM_001849.3(COL6A2):c.2960C>T (p.Thr987Met) rs199955442
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) rs149845431
NM_001849.3(COL6A2):c.2977C>T (p.Arg993Cys) rs532656197
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.Phe997fs) rs1555877364
NM_001849.3(COL6A2):c.2994C>T (p.His998=) rs376362856
NM_001849.3(COL6A2):c.2995G>A (p.Glu999Lys) rs142296092
NM_001849.3(COL6A2):c.2997G>A (p.Glu999=) rs751494076
NM_001849.3(COL6A2):c.2998A>G (p.Lys1000Glu) rs151244310
NM_001849.3(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952
NM_001849.3(COL6A2):c.3007G>A (p.Asp1003Asn) rs1601270126
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) rs61735832
NM_001849.3(COL6A2):c.3025G>A (p.Gly1009Ser) rs35887009
NM_001849.3(COL6A2):c.3026G>T (p.Gly1009Val) rs1157175258
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162
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.408C>T (p.Cys136=) rs745970130
NM_001849.3(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
NM_001849.3(COL6A2):c.436C>T (p.Arg146Trp) rs762263982
NM_001849.3(COL6A2):c.446G>A (p.Arg149His) rs143891262
NM_001849.3(COL6A2):c.460G>A (p.Val154Ile) rs751410120
NM_001849.3(COL6A2):c.483C>T (p.Thr161=) rs138312213
NM_001849.3(COL6A2):c.484G>A (p.Asp162Asn) rs1216448596
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.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.542G>A (p.Arg181His) rs371640468
NM_001849.3(COL6A2):c.544G>A (p.Glu182Lys) rs374504636
NM_001849.3(COL6A2):c.545A>G (p.Glu182Gly) rs760509198
NM_001849.3(COL6A2):c.556C>T (p.Arg186Trp) rs754048358
NM_001849.3(COL6A2):c.557G>A (p.Arg186Gln) rs376291264
NM_001849.3(COL6A2):c.568G>A (p.Val190Met) rs150877061
NM_001849.3(COL6A2):c.581A>G (p.Gln194Arg) rs113509166
NM_001849.3(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.3(COL6A2):c.623C>T (p.Pro208Leu) rs559666084
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_645del (p.Asn214fs) 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.673G>A (p.Glu225Lys) rs770150581
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.730G>A (p.Gly244Arg) rs199806576
NM_001849.3(COL6A2):c.735+7G>A rs575365107
NM_001849.3(COL6A2):c.735+9_784del
NM_001849.3(COL6A2):c.736-1G>C rs1601221868
NM_001849.3(COL6A2):c.736-7G>A rs375288629
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
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.80C>T (p.Ser27Leu) rs150057026
NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
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.830del (p.Gly277fs) rs1555872819
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) rs1568928804
NM_001849.3(COL6A2):c.83C>G (p.Pro28Arg) rs778546141
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.855+8T>C rs370008311
NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.3(COL6A2):c.863C>T (p.Pro288Leu) rs745566911
NM_001849.3(COL6A2):c.866G>T (p.Gly289Val) rs886043554
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) rs1568928972
NM_001849.3(COL6A2):c.900+1G>A rs886044261
NM_001849.3(COL6A2):c.902G>T (p.Gly301Val) rs1555872965
NM_001849.3(COL6A2):c.904G>A (p.Val302Ile) rs755822013
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.3(COL6A2):c.933A>T (p.Glu311Asp) rs370624136
NM_001849.3(COL6A2):c.942C>T (p.Ala314=) rs531713008
NM_001849.3(COL6A2):c.946G>A (p.Gly316Ser) rs762882543
NM_001849.3(COL6A2):c.954G>A (p.Lys318=) rs878854362
NM_001849.3(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.3(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_001849.3(COL6A2):c.961C>T (p.Pro321Ser) rs745678446
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.988G>A (p.Asp330Asn) rs139399166
NM_001849.3(COL6A2):c.999+10G>T rs376378709
NM_001849.3(COL6A2):c.999+7G>A rs199783099
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg)
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=)
NM_001849.4(COL6A2):c.1179+1G>A
NM_001849.4(COL6A2):c.1180-10C>T rs777782503
NM_001849.4(COL6A2):c.120G>A (p.Lys40=) rs200025682
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg)
NM_001849.4(COL6A2):c.1249del (p.Arg417fs)
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg)
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys)
NM_001849.4(COL6A2):c.1332+3G>A
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser)
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=) rs1601235960
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val)
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=) rs528087300
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His)
NM_001849.4(COL6A2):c.1459-5C>G
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser)
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs)
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His)
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=) rs1394972929
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His)
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser)
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=) rs377210303
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg)
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr)
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=) rs528635866
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile)
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=)
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=)
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-4_1817-3dup rs149954350
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn)
NM_001849.4(COL6A2):c.186C>A (p.Pro62=) rs762050166
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=) rs143819480
NM_001849.4(COL6A2):c.1926C>G (p.Val642=) rs770537140
NM_001849.4(COL6A2):c.1969+10G>T
NM_001849.4(COL6A2):c.1969+4A>G
NM_001849.4(COL6A2):c.1970-3C>A rs201879417
NM_001849.4(COL6A2):c.1970-9G>A rs747900252
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.1980G>T (p.Val660=) rs201427728
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=) rs776187095
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys)
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp)
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del)
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala)
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=) rs531816975
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His)
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His)
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly)
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=) rs747494120
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile)
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=) rs201571249
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=) rs373731822
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met)
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=) rs530866573
NM_001849.4(COL6A2):c.2395G>A (p.Asp799Asn)
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=)
NM_001849.4(COL6A2):c.2462-3C>T
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2496G>A (p.Val832=) rs567775494
NM_001849.4(COL6A2):c.249C>T (p.Asn83=) rs151032529
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys)
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=) rs376791811
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=) rs374163190
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg)
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His)
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val)
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=) rs139798208
NM_001849.4(COL6A2):c.273G>A (p.Ala91=) rs753168760
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln)
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu)
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His)
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs)
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu)
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys)
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met)
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn)
NM_001849.4(COL6A2):c.291C>T (p.Gly97=)
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr)
NM_001849.4(COL6A2):c.300C>G (p.His100Gln)
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del)
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His)
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys)
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile)
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp)
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly)
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met)
NM_001849.4(COL6A2):c.464A>G (p.His155Arg)
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del)
NM_001849.4(COL6A2):c.498C>T (p.Thr166=) rs762436629
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)
NM_001849.4(COL6A2):c.543_735+396del
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu)
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser)
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val)
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr)
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met)
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe)
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp)
NM_001849.4(COL6A2):c.714+1G>C
NM_001849.4(COL6A2):c.720C>T (p.His240=) rs763803023
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys)
NM_001849.4(COL6A2):c.735+6T>C
NM_001849.4(COL6A2):c.745G>A (p.Val249Met)
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu)
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln)
NM_001849.4(COL6A2):c.801G>A (p.Lys267=)
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu)
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val)
NM_001849.4(COL6A2):c.856-2A>G
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg)
NM_001849.4(COL6A2):c.901-3C>T
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys) rs886042705
NM_001849.4(COL6A2):c.928-10T>A rs747608945
NM_001849.4(COL6A2):c.951C>T (p.Arg317=)
NM_001849.4(COL6A2):c.954+5G>C
NM_001849.4(COL6A2):c.955-2del
NM_001849.4(COL6A2):c.999+9_1053+32del
NM_058174.3(COL6A2):c.1651_1659AAAGGAGAG[1] (p.551_553KGE[1]) rs773493556
NM_058175.2(COL6A2):c.148G>A (p.Val50Met) rs727502826

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