ClinVar Miner

List of variants in gene COL6A2 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 511
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HGVS dbSNP
NM_001849.3(COL6A2):c.*121C>A rs886057170
NM_001849.3(COL6A2):c.*139G>A rs774514501
NM_001849.3(COL6A2):c.*202C>T rs886057171
NM_001849.3(COL6A2):c.*2G>A rs201875609
NM_001849.3(COL6A2):c.*31C>T rs886057169
NM_001849.3(COL6A2):c.*4C>T rs370155138
NM_001849.3(COL6A2):c.*5G>A rs377195134
NM_001849.3(COL6A2):c.-6G>A rs757279009
NM_001849.3(COL6A2):c.-91_3071dup
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.1026T>C (p.Pro342=) rs1568930411
NM_001849.3(COL6A2):c.1031G>A (p.Cys344Tyr) rs886043223
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.3(COL6A2):c.1043C>T (p.Pro348Leu) rs886043426
NM_001849.3(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637
NM_001849.3(COL6A2):c.1052G>A (p.Arg351Gln)
NM_001849.3(COL6A2):c.1053+3A>T rs1555873388
NM_001849.3(COL6A2):c.1053+6G>A rs373181368
NM_001849.3(COL6A2):c.1054-13_1054-10delACTC rs886043730
NM_001849.3(COL6A2):c.1060G>A (p.Asp354Asn) rs188184732
NM_001849.3(COL6A2):c.1060G>C (p.Asp354His)
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.1071G>C (p.Pro357=)
NM_001849.3(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.3(COL6A2):c.1095G>A (p.Glu365=) rs374673302
NM_001849.3(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.3(COL6A2):c.1105C>T (p.Gln369Ter) rs1568930865
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.1117-7C>A rs202094835
NM_001849.3(COL6A2):c.1117-9C>T rs1057523383
NM_001849.3(COL6A2):c.1118G>C (p.Gly373Ala)
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.1142G>C (p.Arg381Thr) rs1057519185
NM_001849.3(COL6A2):c.115+10G>T rs200797233
NM_001849.3(COL6A2):c.115+6A>G rs886042882
NM_001849.3(COL6A2):c.115+6delA rs578127995
NM_001849.3(COL6A2):c.1151C>T (p.Pro384Leu) rs754947548
NM_001849.3(COL6A2):c.1152G>A (p.Pro384=) rs148423929
NM_001849.3(COL6A2):c.116-11G>A rs886057166
NM_001849.3(COL6A2):c.116-3C>T
NM_001849.3(COL6A2):c.116-7C>T rs774578429
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1181G>C (p.Gly394Ala)
NM_001849.3(COL6A2):c.1198G>A (p.Gly400Arg) rs1064796261
NM_001849.3(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.3(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.3(COL6A2):c.123C>T (p.Thr41=)
NM_001849.3(COL6A2):c.1249C>T (p.Arg417Cys) rs1248584370
NM_001849.3(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494
NM_001849.3(COL6A2):c.1263C>T (p.Gly421=)
NM_001849.3(COL6A2):c.1269+7C>T rs751071208
NM_001849.3(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.3(COL6A2):c.1269G>C (p.Pro423=) rs144136807
NM_001849.3(COL6A2):c.1277G>C (p.Arg426Thr)
NM_001849.3(COL6A2):c.1277_1291del (p.Arg426_Gly430del) rs1555873962
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679
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)
NM_001849.3(COL6A2):c.1358G>A (p.Arg453His) rs878854386
NM_001849.3(COL6A2):c.1359C>T (p.Arg453=) rs750842859
NM_001849.3(COL6A2):c.1395+6G>A rs886042454
NM_001849.3(COL6A2):c.1396-26_1396-10delCCCCAAATTCCTCCCCT
NM_001849.3(COL6A2):c.139G>A (p.Val47Met) rs370171967
NM_001849.3(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.3(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453
NM_001849.3(COL6A2):c.1410G>A (p.Leu470=) rs145012001
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)
NM_001849.3(COL6A2):c.1458+3C>T rs794727186
NM_001849.3(COL6A2):c.1458+3_1458+6delCAGT rs765084926
NM_001849.3(COL6A2):c.1458+9_1458+14delCAGTGC rs762583937
NM_001849.3(COL6A2):c.1459-82_1459-63del rs1331564391
NM_001849.3(COL6A2):c.1459-8G>A
NM_001849.3(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829
NM_001849.3(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.3(COL6A2):c.1472A>G (p.Asp491Gly) rs754954890
NM_001849.3(COL6A2):c.1477G>A (p.Gly493Ser)
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.148G>A (p.Val50Met) rs727502826
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.14C>T (p.Thr5Ile) rs886043160
NM_001849.3(COL6A2):c.1521+4C>T rs886043036
NM_001849.3(COL6A2):c.1521+5G>A rs760353646
NM_001849.3(COL6A2):c.1522-9C>T rs371576207
NM_001849.3(COL6A2):c.1530C>T (p.Pro510=) rs199842179
NM_001849.3(COL6A2):c.1531G>A (p.Gly511Ser)
NM_001849.3(COL6A2):c.1533C>T (p.Gly511=) rs750694212
NM_001849.3(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226
NM_001849.3(COL6A2):c.1562G>A (p.Arg521Gln) rs367693258
NM_001849.3(COL6A2):c.1568C>G (p.Ala523Gly)
NM_001849.3(COL6A2):c.1572+2dup rs1568935182
NM_001849.3(COL6A2):c.1572C>T (p.Pro524=) rs552356380
NM_001849.3(COL6A2):c.1573G>C (p.Gly525Arg) rs1555874709
NM_001849.3(COL6A2):c.1585G>A (p.Glu529Lys) rs200667230
NM_001849.3(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096
NM_001849.3(COL6A2):c.1599C>T (p.Arg533=) rs373635709
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.1609-7G>A rs555312732
NM_001849.3(COL6A2):c.1612G>C (p.Gly538Arg) rs886044032
NM_001849.3(COL6A2):c.1616G>A (p.Arg539Gln)
NM_001849.3(COL6A2):c.1621G>A (p.Asp541Asn)
NM_001849.3(COL6A2):c.162G>A (p.Ser54=)
NM_001849.3(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.3(COL6A2):c.1645G>A (p.Gly549Arg) rs773629714
NM_001849.3(COL6A2):c.1649G>A (p.Arg550Lys)
NM_001849.3(COL6A2):c.1651_1659AAAGGAGAG[1] (p.551_553KGE[1]) rs773493556
NM_001849.3(COL6A2):c.1651_1659AAAGGAGAG[3] (p.551_553KGE[3]) rs773493556
NM_001849.3(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639
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.1702C>T (p.Pro568Ser) rs140097446
NM_001849.3(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu) rs142021066
NM_001849.3(COL6A2):c.1734+10_1734+12delTGG rs1197848901
NM_001849.3(COL6A2):c.1734+14C>T rs886057167
NM_001849.3(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442
NM_001849.3(COL6A2):c.1750C>T (p.Pro584Ser) rs779979272
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.176T>C (p.Met59Thr) rs886043225
NM_001849.3(COL6A2):c.1770+1G>A rs752803039
NM_001849.3(COL6A2):c.1770G>A (p.Thr590=) rs150999832
NM_001849.3(COL6A2):c.1771-8C>T rs886042687
NM_001849.3(COL6A2):c.1771-9G>T rs886042686
NM_001849.3(COL6A2):c.1772A>T (p.Glu591Val) rs1568939145
NM_001849.3(COL6A2):c.1779C>T (p.Asp593=) rs139571947
NM_001849.3(COL6A2):c.1792G>A (p.Val598Met) rs149731632
NM_001849.3(COL6A2):c.1797G>C (p.Arg599Ser) rs370858447
NM_001849.3(COL6A2):c.1816G>C (p.Asp606His) rs747602311
NM_001849.3(COL6A2):c.1817-3delC rs149954350
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.1817-9C>T
NM_001849.3(COL6A2):c.181T>C (p.Ser61Pro) rs990733473
NM_001849.3(COL6A2):c.1828C>T (p.Arg610Cys) rs748283415
NM_001849.3(COL6A2):c.1831T>C (p.Cys611Arg) rs794727399
NM_001849.3(COL6A2):c.1836C>T (p.Gly612=) rs141257132
NM_001849.3(COL6A2):c.1855G>A (p.Val619Ile)
NM_001849.3(COL6A2):c.1860C>T (p.Ile620=) rs367857478
NM_001849.3(COL6A2):c.1869C>T (p.Ser623=) rs760704425
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.1895C>T (p.Thr632Ile)
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1911C>T (p.Phe637=) rs746339542
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.1932G>A (p.Arg644=) rs776676512
NM_001849.3(COL6A2):c.1937G>A (p.Gly646Asp)
NM_001849.3(COL6A2):c.1944C>T (p.Ile648=) rs148178994
NM_001849.3(COL6A2):c.1947T>C (p.Ala649=) rs751668448
NM_001849.3(COL6A2):c.1959G>A (p.Lys653=)
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=) rs150253422
NM_001849.3(COL6A2):c.1963G>A (p.Glu655Lys) rs771886065
NM_001849.3(COL6A2):c.1967C>T (p.Thr656Ile)
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.1970-7_1981dup rs754514524
NM_001849.3(COL6A2):c.1998C>G (p.Ser666Arg) rs398123647
NM_001849.3(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.3(COL6A2):c.2001C>T (p.His667=) rs886042174
NM_001849.3(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335
NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala)
NM_001849.3(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.3(COL6A2):c.2010C>A (p.Thr670=)
NM_001849.3(COL6A2):c.2016G>A (p.Glu672=) rs146323303
NM_001849.3(COL6A2):c.2031C>T (p.Asp677=) rs759646708
NM_001849.3(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.3(COL6A2):c.2058C>T (p.Ser686=) rs370558215
NM_001849.3(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395
NM_001849.3(COL6A2):c.2083G>C (p.Glu695Gln)
NM_001849.3(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.3(COL6A2):c.2098G>A (p.Gly700Ser) rs794727418
NM_001849.3(COL6A2):c.2113T>C (p.Ser705Pro) rs398123648
NM_001849.3(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
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.2145C>T (p.Ile715=) rs1384437929
NM_001849.3(COL6A2):c.2153G>A (p.Ser718Asn)
NM_001849.3(COL6A2):c.2158C>T (p.Arg720Cys)
NM_001849.3(COL6A2):c.2159G>A (p.Arg720His) rs145140058
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.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.2196C>T (p.Asp732=) rs188508745
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.2217C>T (p.Asp739=) rs374795477
NM_001849.3(COL6A2):c.2233C>T (p.Arg745Trp) rs140643748
NM_001849.3(COL6A2):c.2237C>T (p.Ala746Val) rs761863452
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=) rs398123649
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.2248C>T (p.Arg750Cys) rs200709432
NM_001849.3(COL6A2):c.224C>T (p.Pro75Leu) rs750009012
NM_001849.3(COL6A2):c.2250C>T (p.Arg750=) rs200096552
NM_001849.3(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.3(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.3(COL6A2):c.225G>T (p.Pro75=) rs143678454
NM_001849.3(COL6A2):c.2264C>T (p.Thr755Met) rs369954815
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.2326G>A (p.Ala776Thr) rs759293889
NM_001849.3(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.3(COL6A2):c.2349G>A (p.Val783=) rs886044418
NM_001849.3(COL6A2):c.2351G>C (p.Arg784Pro) rs75120695
NM_001849.3(COL6A2):c.2354A>G (p.Asn785Ser)
NM_001849.3(COL6A2):c.2361G>A (p.Thr787=) rs566966690
NM_001849.3(COL6A2):c.2362C>A (p.Leu788Met) rs1235087612
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.2377G>A (p.Val793Ile) rs774600998
NM_001849.3(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.3(COL6A2):c.2392_2394del (p.Ile798del) rs886043731
NM_001849.3(COL6A2):c.2397T>C (p.Asp799=) rs754203636
NM_001849.3(COL6A2):c.2407G>A (p.Asp803Asn) rs761913437
NM_001849.3(COL6A2):c.2409C>T (p.Asp803=) rs745800327
NM_001849.3(COL6A2):c.2410G>A (p.Val804Ile) rs199896699
NM_001849.3(COL6A2):c.2417G>A (p.Cys806Tyr)
NM_001849.3(COL6A2):c.2420C>T (p.Pro807Leu)
NM_001849.3(COL6A2):c.2422+6C>T rs371950486
NM_001849.3(COL6A2):c.2422+7G>A rs773282809
NM_001849.3(COL6A2):c.2422+7G>T rs773282809
NM_001849.3(COL6A2):c.2423-7_2423-6delCT rs756221937
NM_001849.3(COL6A2):c.2423-9C>G rs368725753
NM_001849.3(COL6A2):c.2425C>T (p.Pro809Ser)
NM_001849.3(COL6A2):c.2433C>T (p.Ile811=) rs776788517
NM_001849.3(COL6A2):c.2435T>C (p.Val812Ala) rs886044025
NM_001849.3(COL6A2):c.2436G>A (p.Val812=) rs372745282
NM_001849.3(COL6A2):c.2441C>T (p.Pro814Leu)
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.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.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.2536G>A (p.Glu846Lys) rs772005975
NM_001849.3(COL6A2):c.2538G>A (p.Glu846=) rs144475977
NM_001849.3(COL6A2):c.2556C>T (p.Ala852=) rs148404291
NM_001849.3(COL6A2):c.2557C>T (p.Arg853Trp)
NM_001849.3(COL6A2):c.2561G>A (p.Arg854His)
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2566G>A (p.Val856Met) rs368160013
NM_001849.3(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
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.2585G>A (p.Arg862Gln) rs367658663
NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) rs200488881
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs) rs863224243
NM_001849.3(COL6A2):c.2595G>A (p.Leu865=) rs1474756520
NM_001849.3(COL6A2):c.2599C>A (p.Arg867=) rs144484744
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.3(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230
NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147
NM_001849.3(COL6A2):c.2626C>T (p.Arg876Cys) rs387906608
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.2658C>T (p.Gly886=) rs143168888
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.2679G>A (p.Pro893=) rs748286207
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.2687A>C (p.His896Pro) rs886044383
NM_001849.3(COL6A2):c.2691C>T (p.Asn897=) rs1178660708
NM_001849.3(COL6A2):c.2696C>T (p.Thr899Met) rs771341779
NM_001849.3(COL6A2):c.2698G>A (p.Ala900Thr)
NM_001849.3(COL6A2):c.2702_2722del (p.Ile901_Thr907del) rs886044097
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.2712G>A (p.Ala904=) rs139116075
NM_001849.3(COL6A2):c.2712G>T (p.Ala904=) rs139116075
NM_001849.3(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.3(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.3(COL6A2):c.2742C>T (p.Phe914=)
NM_001849.3(COL6A2):c.2745G>A (p.Ser915=) rs144516266
NM_001849.3(COL6A2):c.2748C>A (p.His916Gln) rs372206114
NM_001849.3(COL6A2):c.2748C>T (p.His916=) rs372206114
NM_001849.3(COL6A2):c.2749G>A (p.Val917Met) rs145381639
NM_001849.3(COL6A2):c.2751G>A (p.Val917=) rs111341650
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.2761G>T (p.Val921Leu) rs398123650
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.2781C>T (p.Ala927=) rs776437060
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.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.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.2830_2832del (p.Phe944del) rs769426922
NM_001849.3(COL6A2):c.2833G>T (p.Val945Leu)
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=) rs532522222
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.2844G>A (p.Thr948=) rs757818559
NM_001849.3(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup)
NM_001849.3(COL6A2):c.2847C>T (p.Asp949=) rs369129061
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.2858G>C (p.Gly953Ala)
NM_001849.3(COL6A2):c.2863G>A (p.Asp955Asn)
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.2882C>T (p.Ala961Val) rs138674440
NM_001849.3(COL6A2):c.2883G>A (p.Ala961=)
NM_001849.3(COL6A2):c.2884C>G (p.His962Asp) rs373184224
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.2904C>T (p.Asn968=) rs143569686
NM_001849.3(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.3(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.3(COL6A2):c.2907G>A (p.Val969=) rs138004735
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)
NM_001849.3(COL6A2):c.2940G>A (p.Val980=) rs886044694
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.2962C>G (p.Leu988Val) rs781544781
NM_001849.3(COL6A2):c.2968C>G (p.Leu990Val) rs746012569
NM_001849.3(COL6A2):c.2968C>T (p.Leu990=) rs746012569
NM_001849.3(COL6A2):c.2977C>T (p.Arg993Cys)
NM_001849.3(COL6A2):c.2981_2983CCG[1] (p.Ala995del) rs768109283
NM_001849.3(COL6A2):c.2985C>T (p.Ala995=) rs752243349
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) rs142432514
NM_001849.3(COL6A2):c.2988dup (p.Phe997fs) rs1555877364
NM_001849.3(COL6A2):c.2991C>G (p.Phe997Leu) rs1555877365
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.2998_3000del (p.Lys1000del) rs750794022
NM_001849.3(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952
NM_001849.3(COL6A2):c.3007G>A (p.Asp1003Asn)
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) rs61735832
NM_001849.3(COL6A2):c.3019C>G (p.Gln1007Glu) rs1555877377
NM_001849.3(COL6A2):c.3024C>T (p.Pro1008=)
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.3034G>A (p.Asp1012Asn) rs372431744
NM_001849.3(COL6A2):c.3046C>T (p.Arg1016Cys) rs373392391
NM_001849.3(COL6A2):c.3047G>A (p.Arg1016His) rs376368468
NM_001849.3(COL6A2):c.3058T>C (p.Ter1020Gln) rs886044576
NM_001849.3(COL6A2):c.332C>T (p.Pro111Leu) rs747184649
NM_001849.3(COL6A2):c.335G>A (p.Gly112Asp) rs776732203
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.345G>A (p.Arg115=) rs138007666
NM_001849.3(COL6A2):c.386G>A (p.Arg129His) rs1267725555
NM_001849.3(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.3(COL6A2):c.408C>T (p.Cys136=)
NM_001849.3(COL6A2):c.410C>T (p.Ala137Val) rs886044462
NM_001849.3(COL6A2):c.411G>A (p.Ala137=) rs528885146
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.431A>G (p.Gln144Arg) rs1555871542
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.459C>T (p.Thr153=) rs764014106
NM_001849.3(COL6A2):c.460G>A (p.Val154Ile)
NM_001849.3(COL6A2):c.472G>A (p.Val158Met) rs201792591
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.493G>A (p.Val165Ile) rs886044102
NM_001849.3(COL6A2):c.503G>T (p.Ser168Ile) rs376564984
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) rs200710788
NM_001849.3(COL6A2):c.535C>T (p.Arg179Trp) rs201470058
NM_001849.3(COL6A2):c.537G>A (p.Arg179=) rs762450920
NM_001849.3(COL6A2):c.542G>A (p.Arg181His) rs371640468
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.567C>T (p.Ala189=) rs563505047
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)
NM_001849.3(COL6A2):c.596A>G (p.Gln199Arg) rs886044068
NM_001849.3(COL6A2):c.605G>A (p.Arg202Gln) rs573648060
NM_001849.3(COL6A2):c.612C>T (p.Ile204=) rs773143298
NM_001849.3(COL6A2):c.619A>G (p.Thr207Ala) rs1568926292
NM_001849.3(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.3(COL6A2):c.623C>T (p.Pro208Leu)
NM_001849.3(COL6A2):c.627C>T (p.His209=) rs545218705
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys) rs113017484
NM_001849.3(COL6A2):c.637C>T (p.Arg213Cys) rs374196682
NM_001849.3(COL6A2):c.638G>A (p.Arg213His) rs368064647
NM_001849.3(COL6A2):c.643G>A (p.Asp215Asn) rs563449281
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=) rs150004111
NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr) rs530625182
NM_001849.3(COL6A2):c.664G>A (p.Asp222Asn)
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>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.715A>G (p.Lys239Glu)
NM_001849.3(COL6A2):c.729C>T (p.Tyr243=) rs200824569
NM_001849.3(COL6A2):c.730G>A (p.Gly244Arg) rs199806576
NM_001849.3(COL6A2):c.735+7G>A rs575365107
NM_001849.3(COL6A2):c.736-7G>A rs375288629
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.773C>G (p.Ser258Cys) rs770303583
NM_001849.3(COL6A2):c.786C>G (p.Gly262=) rs145500808
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.80C>T (p.Ser27Leu)
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.83C>G (p.Pro28Arg)
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.855+8T>C
NM_001849.3(COL6A2):c.863C>T (p.Pro288Leu) rs745566911
NM_001849.3(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.3(COL6A2):c.901-10C>T rs754039292
NM_001849.3(COL6A2):c.901-3C>G
NM_001849.3(COL6A2):c.902G>T (p.Gly301Val) rs1555872965
NM_001849.3(COL6A2):c.904G>A (p.Val302Ile)
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)
NM_001849.3(COL6A2):c.948T>C (p.Gly316=) rs764665426
NM_001849.3(COL6A2):c.94G>A (p.Glu32Lys) rs547648292
NM_001849.3(COL6A2):c.950G>A (p.Arg317His) rs373782637
NM_001849.3(COL6A2):c.954G>A (p.Lys318=) rs878854362
NM_001849.3(COL6A2):c.955-10C>T rs751105293
NM_001849.3(COL6A2):c.955-8C>T rs398123651
NM_001849.3(COL6A2):c.960C>T (p.Ala320=) rs886044473
NM_001849.3(COL6A2):c.961C>T (p.Pro321Ser)
NM_001849.3(COL6A2):c.971C>G (p.Ala324Gly) rs886043229
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+10G>T
NM_001849.3(COL6A2):c.999G>A (p.Lys333=) rs886042908
Single allele

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