ClinVar Miner

List of variants in gene COL6A2 reported as uncertain significance for Bethlem myopathy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 559
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile) rs371386355 0.00017
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671 0.00016
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.1332+3G>A rs201007156 0.00010
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208 0.00010
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=) rs754900547 0.00007
NM_001849.4(COL6A2):c.1053+6G>A rs373181368 0.00006
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=) rs746727003 0.00006
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln) rs368588676 0.00006
NM_001849.4(COL6A2):c.2422+6C>T rs371950486 0.00006
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703 0.00006
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser) rs750027302 0.00006
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) rs544436881 0.00006
NM_001849.4(COL6A2):c.116-3C>T rs767597831 0.00005
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603 0.00005
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652 0.00005
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys) rs374196682 0.00005
NM_001849.4(COL6A2):c.638G>A (p.Arg213His) rs368064647 0.00005
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg) rs768681228 0.00004
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679 0.00004
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys) rs776748046 0.00004
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln) rs768933697 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His) rs145140058 0.00004
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294 0.00004
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His) rs554257211 0.00004
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952 0.00004
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp) rs201470058 0.00004
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val) rs747347320 0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His) rs373782637 0.00004
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser) rs745678446 0.00004
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln) rs747093518 0.00003
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser) rs375694341 0.00003
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=) rs150999832 0.00003
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile) rs7283272 0.00003
NM_001849.4(COL6A2):c.1969+4A>C rs775997945 0.00003
NM_001849.4(COL6A2):c.1969+6C>T rs374669895 0.00003
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala) rs774611719 0.00003
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys) rs748592288 0.00003
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495 0.00003
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198 0.00003
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756 0.00003
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr) rs376173871 0.00003
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met) rs367980010 0.00003
NM_001849.4(COL6A2):c.284G>A (p.Arg95His) rs886042690 0.00003
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg) rs113509166 0.00003
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg) rs886044068 0.00003
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys) rs770150581 0.00003
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu) rs745566911 0.00003
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637 0.00002
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala) rs773528946 0.00002
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=) rs752255976 0.00002
NM_001849.4(COL6A2):c.1270-3C>T rs1488223613 0.00002
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu) rs1252515693 0.00002
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639 0.00002
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys) rs771658013 0.00002
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg) rs757603350 0.00002
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro) rs990733473 0.00002
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp) rs752366811 0.00002
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) rs564873527 0.00002
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys) rs200709432 0.00002
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu) rs199736749 0.00002
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu) rs768417049 0.00002
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly) rs11554668 0.00002
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp) rs373184224 0.00002
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met) rs752700701 0.00002
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) rs762263982 0.00002
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser) rs769456044 0.00002
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln) rs376291264 0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys) rs760263812 0.00002
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu) rs757488307 0.00002
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser) rs2078489585 0.00001
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser) rs1218992420 0.00001
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys) rs1473389233 0.00001
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=) rs762160379 0.00001
NM_001849.4(COL6A2):c.1117-3C>T rs772428654 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494 0.00001
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr) rs760573983 0.00001
NM_001849.4(COL6A2):c.12C>T (p.Gly4=) rs568730672 0.00001
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys) rs781742477 0.00001
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr) rs144735844 0.00001
NM_001849.4(COL6A2):c.1395+6G>A rs886042454 0.00001
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln) rs746541506 0.00001
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453 0.00001
NM_001849.4(COL6A2):c.1458+3C>T rs794727186 0.00001
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe) rs755539822 0.00001
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser) rs553174831 0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1521+5G>A rs760353646 0.00001
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226 0.00001
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=) rs552356380 0.00001
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser) rs1307667500 0.00001
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val) rs376303610 0.00001
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804 0.00001
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442 0.00001
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg) rs917875281 0.00001
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala) rs1487977724 0.00001
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr) rs1420375071 0.00001
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=) rs778401356 0.00001
NM_001849.4(COL6A2):c.1817-7_1817-6insA rs759572010 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr) rs766374821 0.00001
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala) rs760227367 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys) rs139627965 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His) rs749451502 0.00001
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn) rs1348937334 0.00001
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val) rs761863452 0.00001
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu) rs750009012 0.00001
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser) rs773338647 0.00001
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro) rs982360912 0.00001
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) rs727502834 0.00001
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=) rs774494973 0.00001
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser) rs1044778936 0.00001
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala) rs886044025 0.00001
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu) rs775748752 0.00001
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr) rs11554667 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835 0.00001
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys) rs932129947 0.00001
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=) rs377389081 0.00001
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys) rs775590810 0.00001
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp) rs752291709 0.00001
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser) rs780908409 0.00001
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser) rs1228163562 0.00001
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) rs771341779 0.00001
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn) rs773974101 0.00001
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val) rs201842315 0.00001
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser) rs1337272208 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922 0.00001
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr) rs777494468 0.00001
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser) rs370593484 0.00001
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val) rs754518986 0.00001
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu) rs1555877365 0.00001
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn) rs750682710 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His) rs751512548 0.00001
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=) rs751470018 0.00001
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp) rs776732203 0.00001
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn) rs969934621 0.00001
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys) rs557545831 0.00001
NM_001849.4(COL6A2):c.389G>A (p.Arg130His) rs200387819 0.00001
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val) rs886044462 0.00001
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr) rs1454146707 0.00001
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile) rs886044102 0.00001
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys) rs766523982 0.00001
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg) rs751632108 0.00001
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn) rs776631856 0.00001
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp) rs779287707 0.00001
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505 0.00001
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile) rs752359061 0.00001
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu) rs777108595 0.00001
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys) rs1159588931 0.00001
NM_001849.4(COL6A2):c.901-3C>T rs112317259 0.00001
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn) rs759838639 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 0.00001
NC_000021.8:g.(?_47517033)_(47553763_?)dup
NC_000021.8:g.(?_47518024)_47552476dup
NC_000021.8:g.(?_47536545)_(47536748_?)dup
NC_000021.8:g.(?_47551858)_(47552476_?)dup
NC_000021.9:g.(?_46111467)_(46112834_?)dup
NC_000021.9:g.(?_46113998)_(46116063_?)dup
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg) rs2123631275
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg) rs2078490056
NM_001849.4(COL6A2):c.1046_1053+1del
NM_001849.4(COL6A2):c.1053+3A>T rs1555873388
NM_001849.4(COL6A2):c.1053+4dup
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val) rs2078500027
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val) rs1601229481
NM_001849.4(COL6A2):c.1116+6T>G
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg) rs753834270
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1]) rs2123635719
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser) rs2078399168
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
NM_001849.4(COL6A2):c.115+6A>G rs886042882
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala) rs756966358
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly) rs1248584370
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu) rs371383704
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg) rs2123637568
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu) rs761030439
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys) rs761330909
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del) rs2078532600
NM_001849.4(COL6A2):c.1332+20C>T rs1222615509
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser) rs1269914621
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
NM_001849.4(COL6A2):c.1395+5G>C rs1373123496
NM_001849.4(COL6A2):c.1396-26_1396-10del rs1601237036
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn) rs1464567484
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala) rs2123614177
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His) rs1472257957
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp) rs2123645059
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
NM_001849.4(COL6A2):c.1458+3_1458+6del rs765084926
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His) rs2078559618
NM_001849.4(COL6A2):c.1459-5C>G rs1362389378
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly) rs727502829
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser) rs778917725
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del) rs2123646706
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
NM_001849.4(COL6A2):c.1521+4C>T rs886043036
NM_001849.4(COL6A2):c.1522-3C>T
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala) rs756315481
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His) rs2078576778
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly) rs769563817
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser) rs2078577021
NM_001849.4(COL6A2):c.1572+5G>A
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val) rs2123650884
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys) rs2123650926
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3]) rs773493556
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser) rs2078589816
NM_001849.4(COL6A2):c.1671+4_1671+7del rs2078589929
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=) rs2078589880
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr) rs1035008109
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser) rs1172190604
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg) rs2078631679
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser) rs2078397289
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu) rs2123658612
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr) rs779979272
NM_001849.4(COL6A2):c.1751_1770+24dup rs2078635959
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu) rs1568938716
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys) rs142709940
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro) rs147892526
NM_001849.4(COL6A2):c.1816+3G>A
NM_001849.4(COL6A2):c.1816+6G>A
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn) rs747602311
NM_001849.4(COL6A2):c.1817-16C>G
NM_001849.4(COL6A2):c.1817-2dup
NM_001849.4(COL6A2):c.1817-3C>A rs112645828
NM_001849.4(COL6A2):c.1817-3C>G rs112645828
NM_001849.4(COL6A2):c.1817-3C>T rs112645828
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn) rs2078648587
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr) rs2123662036
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala) rs141919484
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
NM_001849.4(COL6A2):c.1969+4A>G rs775997945
NM_001849.4(COL6A2):c.1970-14C>T rs749228434
NM_001849.4(COL6A2):c.1970-3C>T rs201879417
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) rs727502830
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met) rs2123663062
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe) rs2078406730
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp) rs564873527
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del) rs2078657129
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
NM_001849.4(COL6A2):c.2116G>A (p.Ala706Thr)
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro) rs2123663738
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val) rs1555875708
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met) rs2123663867
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly) rs2078660025
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr) rs2123664136
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp) rs2123664140
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
NM_001849.4(COL6A2):c.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His) rs2078662932
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser) rs1601251344
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met) rs1194893303
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro) rs75120695
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser) rs746466184
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn) rs1312736604
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.4(COL6A2):c.2423-3C>T
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
NM_001849.4(COL6A2):c.2462-3C>T rs766469768
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr) rs778134390
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro) rs2078765932
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg) rs2078765932
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
NM_001849.4(COL6A2):c.2497dup (p.Asp833fs)
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val) rs2078767000
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly) rs759689002
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.4(COL6A2):c.2568G>A (p.Val856=) rs2123454687
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla) rs753952104
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys) rs200488881
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys) rs865872231
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg) rs770956606
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
NM_001849.4(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn) rs112139050
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro) rs1290912034
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr) rs2123455277
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg) rs2123455354
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu) rs1426096612
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys) rs1321329142
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu) rs374384263
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del) rs2123455541
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu) rs2123455553
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup) rs775193167
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met) rs147670858
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro) rs2123455695
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn) rs373184224
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala) rs771847588
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser) rs201188174
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup) rs1568948073
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro) rs754429992
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup) rs762259160
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val) rs781544781
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His) rs2123456038
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=) rs6652
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu) rs1555877365
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del) rs750794022
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn) rs1601270126
NM_001849.4(COL6A2):c.300C>G (p.His100Gln) rs765941470
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del) rs2078776370
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys) rs2078776827
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg) rs1365013453
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile) rs2078397134
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr) rs982087527
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly) rs749711324
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn) rs1216448596
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del) rs2078413886
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu) rs376291264
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser) rs765361834
NM_001849.4(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr) rs2078398153
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met) rs760395633
NM_001849.4(COL6A2):c.626A>T (p.His209Leu) rs1413478268
NM_001849.4(COL6A2):c.627C>G (p.His209Gln) rs545218705
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met) rs773058625
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro) rs1208218678
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe) rs2078418524
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del) rs775693562
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
NM_001849.4(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
NM_001849.4(COL6A2):c.735+6T>C rs2078423797
NM_001849.4(COL6A2):c.736-6T>C
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile) rs2123612816
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
NM_001849.4(COL6A2):c.745G>A (p.Val249Met) rs1454103225
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln) rs753370790
NM_001849.4(COL6A2):c.801+2dup rs2123620848
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg) rs778546141
NM_001849.4(COL6A2):c.855+38_856-32del
NM_001849.4(COL6A2):c.856-24_856-10del
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu) rs2123626180
NM_001849.4(COL6A2):c.900+5G>A
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu) rs1472672400
NM_001849.4(COL6A2):c.927+5G>C
NM_001849.4(COL6A2):c.954+3A>G rs2123628260
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val) rs1444127463
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
NM_001849.4(COL6A2):c.999+6G>A
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)

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