List of variants in gene COL6A2 reported by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 326

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HGVS	dbSNP
NC_000021.8:g.(?_47531371)_(47541057_?)del
NC_000021.8:g.(?_47531391)_(47541037_?)del
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.1000-6C>T	rs761428568
NM_001849.3(COL6A2):c.1012C>T (p.Arg338Cys)	rs775751831
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val)	rs1568930426
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.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)
NM_001849.3(COL6A2):c.1112G>T (p.Gly371Val)
NM_001849.3(COL6A2):c.1117-3C>T	rs772428654
NM_001849.3(COL6A2):c.1118G>C (p.Gly373Ala)
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.116-3C>T
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
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)	rs1568931875
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=)	rs61735827
NM_001849.3(COL6A2):c.1263C>T (p.Gly421=)
NM_001849.3(COL6A2):c.1277G>C (p.Arg426Thr)
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.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)
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.1396-26_1396-10del
NM_001849.3(COL6A2):c.1402C>T (p.Arg468Ter)
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=)	rs149077114
NM_001849.3(COL6A2):c.1447C>T (p.Pro483Ser)
NM_001849.3(COL6A2):c.1458+9_1458+14del	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.1477G>A (p.Gly493Ser)
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.1568C>G (p.Ala523Gly)
NM_001849.3(COL6A2):c.1572+3G>A	rs372414400
NM_001849.3(COL6A2):c.1600G>A (p.Gly534Ser)
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)
NM_001849.3(COL6A2):c.1621G>A (p.Asp541Asn)
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+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.1751del (p.Pro584fs)	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.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.1899G>A (p.Leu633=)	rs189341312
NM_001849.3(COL6A2):c.1912_1914del (p.Val638del)
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.1969+4A>C	rs775997945
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>A (p.Glu668Lys)	rs138948335
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.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)
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.2251G>A (p.Asp751Asn)	rs375884809
NM_001849.3(COL6A2):c.2278G>A (p.Gly760Arg)
NM_001849.3(COL6A2):c.2293G>A (p.Glu765Lys)
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)
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)	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)
NM_001849.3(COL6A2):c.2422+6C>T	rs371950486
NM_001849.3(COL6A2):c.2425C>T (p.Pro809Ser)
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.2527C>T (p.Arg843Trp)	rs376880198
NM_001849.3(COL6A2):c.2528G>A (p.Arg843Gln)	rs201736323
NM_001849.3(COL6A2):c.2557C>T (p.Arg853Trp)
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln)	rs144830948
NM_001849.3(COL6A2):c.2561G>A (p.Arg854His)
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.2575G>A (p.Val859Met)	rs370446082
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.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.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.2659G>A (p.Glu887Lys)	rs886043283
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=)	rs148249892
NM_001849.3(COL6A2):c.2671G>A (p.Ala891Thr)
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.2697G>A (p.Thr899=)	rs11554669
NM_001849.3(COL6A2):c.2698G>A (p.Ala900Thr)
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.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)
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.2846_2857dup (p.Asp949_Thr952dup)
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)
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=)	rs138074469
NM_001849.3(COL6A2):c.2863G>A (p.Asp955Asn)
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.2880G>A (p.Ser960=)	rs375430758
NM_001849.3(COL6A2):c.2886C>T (p.His962=)	rs115970356
NM_001849.3(COL6A2):c.2887T>G (p.Ser963Ala)
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=)	rs61735833
NM_001849.3(COL6A2):c.2892G>A (p.Met964Ile)
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.2935G>A (p.Asp979Asn)	rs141579198
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=)	rs150716220
NM_001849.3(COL6A2):c.2938G>A (p.Val980Met)
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.2977C>T (p.Arg993Cys)
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.3004T>C (p.Tyr1002His)	rs527236952
NM_001849.3(COL6A2):c.3007G>A (p.Asp1003Asn)
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.422T>C (p.Met141Thr)	rs1568925911
NM_001849.3(COL6A2):c.426G>A (p.Thr142=)	rs149480738
NM_001849.3(COL6A2):c.460G>A (p.Val154Ile)
NM_001849.3(COL6A2):c.483C>T (p.Thr161=)	rs138312213
NM_001849.3(COL6A2):c.484G>A (p.Asp162Asn)
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.545A>G (p.Glu182Gly)	rs760509198
NM_001849.3(COL6A2):c.556C>T (p.Arg186Trp)
NM_001849.3(COL6A2):c.557G>A (p.Arg186Gln)
NM_001849.3(COL6A2):c.581A>G (p.Gln194Arg)	rs113509166
NM_001849.3(COL6A2):c.582G>C (p.Gln194His)
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_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)
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
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.80C>T (p.Ser27Leu)
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)	rs1568928804
NM_001849.3(COL6A2):c.83C>G (p.Pro28Arg)
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.857G>A (p.Gly286Glu)	rs727502827
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)	rs1568928972
NM_001849.3(COL6A2):c.904G>A (p.Val302Ile)
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.946G>A (p.Gly316Ser)
NM_001849.3(COL6A2):c.955-3_955-1delinsAA	rs1568929639
NM_001849.3(COL6A2):c.961C>T (p.Pro321Ser)
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_058174.3(COL6A2):c.1817-4_1817-3dup	rs149954350

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