ClinVar Miner

List of variants in gene COL6A2 reported as likely benign for Bethlem myopathy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 730
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00130
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00112
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_001849.4(COL6A2):c.115+6del rs578127995 0.00102
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_001849.4(COL6A2):c.2423-11C>T rs199952790 0.00096
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser) rs35887009 0.00080
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val) rs138674440 0.00077
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu) rs151244310 0.00063
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_001849.4(COL6A2):c.2462-12G>A rs369839157 0.00053
NM_001849.4(COL6A2):c.791G>A (p.Arg264His) rs148029276 0.00052
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met) rs370446082 0.00051
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=) rs148249892 0.00051
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=) rs148178994 0.00048
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=) rs145460820 0.00048
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=) rs111938213 0.00043
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys) rs142296092 0.00035
NM_001849.4(COL6A2):c.1970-10C>T rs373369963 0.00034
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) rs139399166 0.00033
NM_001849.4(COL6A2):c.225G>T (p.Pro75=) rs143678454 0.00032
NM_001849.4(COL6A2):c.1117-7C>A rs202094835 0.00031
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_001849.4(COL6A2):c.1522-9C>T rs371576207 0.00029
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230 0.00029
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_001849.4(COL6A2):c.2423-9C>G rs368725753 0.00026
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00026
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00026
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=) rs377476546 0.00024
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=) rs150716220 0.00024
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser) rs139488626 0.00022
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=) rs528635866 0.00021
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln) rs201736323 0.00021
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met) rs398123650 0.00021
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174 0.00021
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His) rs148552966 0.00020
NM_001849.4(COL6A2):c.1522-20G>A rs368072665 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile) rs199896699 0.00019
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) rs149845431 0.00019
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=) rs373635709 0.00018
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=) rs144334894 0.00018
NM_001849.4(COL6A2):c.2907G>A (p.Val969=) rs138004735 0.00018
NM_001849.4(COL6A2):c.828G>A (p.Pro276=) rs140790797 0.00018
NM_001849.4(COL6A2):c.2556C>T (p.Ala852=) rs148404291 0.00017
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser) rs571488000 0.00016
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met) rs145527336 0.00016
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671 0.00016
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met) rs142432514 0.00016
NM_001849.4(COL6A2):c.786C>G (p.Gly262=) rs145500808 0.00016
NM_001849.4(COL6A2):c.942C>T (p.Ala314=) rs531713008 0.00016
NM_001849.4(COL6A2):c.1816+16C>T rs545974833 0.00015
NM_001849.4(COL6A2):c.2010C>A (p.Thr670=) rs142065958 0.00015
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) rs751192681 0.00015
NM_001849.4(COL6A2):c.186C>A (p.Pro62=) rs762050166 0.00014
NM_001849.4(COL6A2):c.1970-13G>A rs369943351 0.00014
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) rs563505047 0.00014
NM_001849.4(COL6A2):c.624G>A (p.Pro208=) rs146333253 0.00014
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=) rs141257132 0.00013
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=) rs201426778 0.00013
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=) rs146420786 0.00013
NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn) rs138276378 0.00012
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys) rs771886065 0.00012
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp) rs777822883 0.00012
NM_001849.4(COL6A2):c.2748C>T (p.His916=) rs372206114 0.00012
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198 0.00012
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met) rs199955442 0.00012
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys) rs369344885 0.00011
NM_001849.4(COL6A2):c.2628C>T (p.Arg876=) rs372413216 0.00011
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) rs374384263 0.00011
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=) rs532522222 0.00011
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln) rs145352569 0.00011
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=) rs746339542 0.00010
NM_001849.4(COL6A2):c.2817C>T (p.His939=) rs368164391 0.00010
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu) rs756253502 0.00010
NM_001849.4(COL6A2):c.446G>A (p.Arg149His) rs143891262 0.00010
NM_001849.4(COL6A2):c.116-6C>T rs761805565 0.00009
NM_001849.4(COL6A2):c.120G>A (p.Lys40=) rs200025682 0.00009
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His) rs878854386 0.00009
NM_001849.4(COL6A2):c.1458+9_1458+14del rs762583937 0.00009
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile) rs557865000 0.00009
NM_001849.4(COL6A2):c.22G>A (p.Val8Met) rs192476178 0.00009
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=) rs199501232 0.00009
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met) rs140020002 0.00009
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=) rs201635208 0.00009
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys) rs374504636 0.00009
NM_001849.4(COL6A2):c.855+19C>T rs373366455 0.00009
NM_001849.4(COL6A2):c.855+8T>C rs370008311 0.00009
NM_001849.4(COL6A2):c.999+10G>T rs376378709 0.00009
NM_001849.4(COL6A2):c.1459-13C>T rs370542209 0.00008
NM_001849.4(COL6A2):c.1671+12C>T rs369570961 0.00008
NM_001849.4(COL6A2):c.2301C>T (p.His767=) rs138371054 0.00008
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=) rs530866573 0.00008
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu) rs779242861 0.00008
NM_001849.4(COL6A2):c.672C>T (p.Thr224=) rs759388890 0.00008
NM_001849.4(COL6A2):c.735+9C>T rs377121540 0.00008
NM_001849.4(COL6A2):c.945C>T (p.Asp315=) rs549800720 0.00008
NM_001849.4(COL6A2):c.1333-15C>T rs759266010 0.00007
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=) rs139571947 0.00007
NM_001849.4(COL6A2):c.1969+10G>C rs201259184 0.00007
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=) rs199499499 0.00007
NM_001849.4(COL6A2):c.2462-20G>A rs559932204 0.00007
NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser) rs373862445 0.00007
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975 0.00007
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=) rs61735832 0.00007
NM_001849.4(COL6A2):c.981C>T (p.Asn327=) rs768836349 0.00007
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln) rs757846451 0.00006
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050 0.00006
NM_001849.4(COL6A2):c.1671+17C>T rs372188653 0.00006
NM_001849.4(COL6A2):c.1671+18G>A rs202115968 0.00006
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser) rs140097446 0.00006
NM_001849.4(COL6A2):c.196C>T (p.Leu66=) rs201055113 0.00006
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=) rs146323303 0.00006
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) rs373514837 0.00006
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395 0.00006
NM_001849.4(COL6A2):c.2238G>A (p.Ala746=) rs535581551 0.00006
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=) rs373731822 0.00006
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=) rs771772739 0.00006
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) rs149697707 0.00006
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=) rs144475977 0.00006
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys) rs886043283 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=) rs139116075 0.00006
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=) rs765055618 0.00006
NM_001849.4(COL6A2):c.2874C>T (p.His958=) rs765550338 0.00006
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=) rs369756029 0.00006
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met) rs145959270 0.00006
NM_001849.4(COL6A2):c.2994C>T (p.His998=) rs376362856 0.00006
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) rs201221113 0.00006
NM_001849.4(COL6A2):c.525G>A (p.Leu175=) rs754034094 0.00006
NM_001849.4(COL6A2):c.856-14G>A rs759917394 0.00006
NM_001849.4(COL6A2):c.139G>A (p.Val47Met) rs370171967 0.00005
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) rs267606749 0.00005
NM_001849.4(COL6A2):c.1608+15T>A rs759865245 0.00005
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg) rs754196388 0.00005
NM_001849.4(COL6A2):c.1771-13G>A rs376708282 0.00005
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=) rs760704425 0.00005
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu) rs145450812 0.00005
NM_001849.4(COL6A2):c.2196C>T (p.Asp732=) rs188508745 0.00005
NM_001849.4(COL6A2):c.2205C>T (p.His735=) rs755147431 0.00005
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=) rs201571249 0.00005
NM_001849.4(COL6A2):c.2322C>T (p.Ser774=) rs200386811 0.00005
NM_001849.4(COL6A2):c.2462-13C>T rs533454494 0.00005
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=) rs748286207 0.00005
NM_001849.4(COL6A2):c.2757A>G (p.Ala919=) rs758646770 0.00005
NM_001849.4(COL6A2):c.2847C>T (p.Asp949=) rs369129061 0.00005
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=) rs143569686 0.00005
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn) rs372431744 0.00005
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys) rs369025432 0.00005
NM_001849.4(COL6A2):c.536G>A (p.Arg179Gln) rs376139670 0.00005
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=) rs150004111 0.00005
NM_001849.4(COL6A2):c.736-7G>A rs375288629 0.00005
NM_001849.4(COL6A2):c.999+15G>A rs372055794 0.00005
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His) rs760872485 0.00004
NM_001849.4(COL6A2):c.1017C>T (p.Ile339=) rs766157503 0.00004
NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys) rs142880107 0.00004
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=) rs377210303 0.00004
NM_001849.4(COL6A2):c.1771-14C>T rs200727166 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.1970-15G>A rs372285273 0.00004
NM_001849.4(COL6A2):c.1970-20C>T rs568102534 0.00004
NM_001849.4(COL6A2):c.1970-8G>C rs771873003 0.00004
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=) rs776187095 0.00004
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=) rs370558215 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_001849.4(COL6A2):c.2395G>A (p.Asp799Asn) rs372936386 0.00004
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn) rs761913437 0.00004
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=) rs748047522 0.00004
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met) rs376841327 0.00004
NM_001849.4(COL6A2):c.249C>T (p.Asn83=) rs151032529 0.00004
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys) rs772005975 0.00004
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp) rs759689002 0.00004
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met) rs200488881 0.00004
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=) rs376791811 0.00004
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=) rs374163190 0.00004
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=) rs757818559 0.00004
NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn) rs773407652 0.00004
NM_001849.4(COL6A2):c.2934C>T (p.Ser978=) rs139814466 0.00004
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=) rs764590595 0.00004
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=) rs746012569 0.00004
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys) rs373392391 0.00004
NM_001849.4(COL6A2):c.411G>A (p.Ala137=) rs528885146 0.00004
NM_001849.4(COL6A2):c.472G>A (p.Val158Met) rs201792591 0.00004
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly) rs760509198 0.00004
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp) rs754048358 0.00004
NM_001849.4(COL6A2):c.642C>T (p.Asn214=) rs781584161 0.00004
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr) rs530625182 0.00004
NM_001849.4(COL6A2):c.714+10G>A rs777394169 0.00004
NM_001849.4(COL6A2):c.735+7G>A rs575365107 0.00004
NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu) rs150057026 0.00004
NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu) rs778546141 0.00004
NM_001849.4(COL6A2):c.115+10G>T rs200797233 0.00003
NM_001849.4(COL6A2):c.1180-12C>T rs1189408610 0.00003
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg) rs762490709 0.00003
NM_001849.4(COL6A2):c.1287C>T (p.Pro429=) rs755258603 0.00003
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=) rs750842859 0.00003
NM_001849.4(COL6A2):c.1395+9G>C rs747883263 0.00003
NM_001849.4(COL6A2):c.1522-7C>T rs200501842 0.00003
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His) rs781676156 0.00003
NM_001849.4(COL6A2):c.162G>A (p.Ser54=) rs780123839 0.00003
NM_001849.4(COL6A2):c.1671+13G>A rs756078022 0.00003
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met) rs149731632 0.00003
NM_001849.4(COL6A2):c.1809G>A (p.Gly603=) rs767902639 0.00003
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His) rs758550765 0.00003
NM_001849.4(COL6A2):c.1872G>A (p.Glu624=) rs147566231 0.00003
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=) rs150253422 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001849.4(COL6A2):c.2235G>T (p.Arg745=) rs773668391 0.00003
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=) rs377458657 0.00003
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 0.00003
NM_001849.4(COL6A2):c.2461+10G>A rs777710817 0.00003
NM_001849.4(COL6A2):c.2461+16C>T rs769731536 0.00003
NM_001849.4(COL6A2):c.2462-17C>T rs1368389922 0.00003
NM_001849.4(COL6A2):c.2462-5C>T rs760890154 0.00003
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr) rs374166613 0.00003
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=) rs1474756520 0.00003
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=) rs139798208 0.00003
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr) rs372523558 0.00003
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=) rs752243349 0.00003
NM_001849.4(COL6A2):c.333G>A (p.Pro111=) rs370531466 0.00003
NM_001849.4(COL6A2):c.471C>T (p.Ala157=) rs372298335 0.00003
NM_001849.4(COL6A2):c.522G>A (p.Lys174=) rs554016354 0.00003
NM_001849.4(COL6A2):c.720C>T (p.His240=) rs763803023 0.00003
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=) rs200824569 0.00003
NM_001849.4(COL6A2):c.879C>T (p.Pro293=) rs138389174 0.00003
NM_001849.4(COL6A2):c.903C>T (p.Gly301=) rs541325013 0.00003
NM_001849.4(COL6A2):c.999+14C>T rs761013382 0.00003
NM_001849.4(COL6A2):c.1000-6C>T rs761428568 0.00002
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=) rs760596115 0.00002
NM_001849.4(COL6A2):c.1053+10G>A rs377311004 0.00002
NM_001849.4(COL6A2):c.1117-14G>A rs768473305 0.00002
NM_001849.4(COL6A2):c.115+20G>A rs767925731 0.00002
NM_001849.4(COL6A2):c.123C>T (p.Thr41=) rs766840536 0.00002
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys) rs200167715 0.00002
NM_001849.4(COL6A2):c.1270-16C>T rs548690364 0.00002
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His) rs773161640 0.00002
NM_001849.4(COL6A2):c.1518C>T (p.Pro506=) rs767192013 0.00002
NM_001849.4(COL6A2):c.168C>T (p.Ser56=) rs749106470 0.00002
NM_001849.4(COL6A2):c.1776T>C (p.Cys592=) rs748153892 0.00002
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys) rs748283415 0.00002
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=) rs143819480 0.00002
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001849.4(COL6A2):c.2055G>A (p.Ser685=) rs752648726 0.00002
NM_001849.4(COL6A2):c.2217C>T (p.Asp739=) rs374795477 0.00002
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=) rs200096552 0.00002
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=) rs747494120 0.00002
NM_001849.4(COL6A2):c.2271C>T (p.Ile757=) rs771683876 0.00002
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr) rs759293889 0.00002
NM_001849.4(COL6A2):c.2349G>A (p.Val783=) rs886044418 0.00002
NM_001849.4(COL6A2):c.2409C>T (p.Asp803=) rs745800327 0.00002
NM_001849.4(COL6A2):c.2698G>A (p.Ala900Thr) rs768339045 0.00002
NM_001849.4(COL6A2):c.273G>A (p.Ala91=) rs753168760 0.00002
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168 0.00002
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His) rs762812372 0.00002
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys) rs372022187 0.00002
NM_001849.4(COL6A2):c.2892G>A (p.Met964Ile) rs747174626 0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys) rs532656197 0.00002
NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His) rs376368468 0.00002
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile) rs751410120 0.00002
NM_001849.4(COL6A2):c.735+10G>A rs748325597 0.00002
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu) rs763922121 0.00002
NM_001849.4(COL6A2):c.900+13G>A rs767295307 0.00002
NM_001849.4(COL6A2):c.928-10T>A rs747608945 0.00002
NM_001849.4(COL6A2):c.93C>T (p.Thr31=) rs953778915 0.00002
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys) rs547648292 0.00002
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys) rs775751831 0.00001
NM_001849.4(COL6A2):c.1053+9C>T rs781673478 0.00001
NM_001849.4(COL6A2):c.1054-10C>T rs1456017785 0.00001
NM_001849.4(COL6A2):c.1054-7C>T rs762738666 0.00001
NM_001849.4(COL6A2):c.1058C>T (p.Pro353Leu) rs767744331 0.00001
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=) rs1381119779 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 0.00001
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=) rs148423929 0.00001
NM_001849.4(COL6A2):c.1180-10C>T rs777782503 0.00001
NM_001849.4(COL6A2):c.1263C>T (p.Gly421=) rs778836612 0.00001
NM_001849.4(COL6A2):c.1269+20_1269+21dup rs762054025 0.00001
NM_001849.4(COL6A2):c.1292C>T (p.Thr431Ile) rs1381049424 0.00001
NM_001849.4(COL6A2):c.1332+10C>T rs886042745 0.00001
NM_001849.4(COL6A2):c.1332+11G>A rs915604664 0.00001
NM_001849.4(COL6A2):c.1332+11G>C rs915604664 0.00001
NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg) rs886044030 0.00001
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=) rs886044428 0.00001
NM_001849.4(COL6A2):c.1395+20C>T rs374032380 0.00001
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=) rs374669775 0.00001
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His) rs200482836 0.00001
NM_001849.4(COL6A2):c.1440T>C (p.Leu480=) rs774677437 0.00001
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=) rs772436808 0.00001
NM_001849.4(COL6A2):c.1521+10C>G rs753385303 0.00001
NM_001849.4(COL6A2):c.1522-12G>A rs770511180 0.00001
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=) rs199842179 0.00001
NM_001849.4(COL6A2):c.1554A>G (p.Pro518=) rs779424467 0.00001
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln) rs367693258 0.00001
NM_001849.4(COL6A2):c.1596A>G (p.Pro532=) rs1337532842 0.00001
NM_001849.4(COL6A2):c.1608+17G>A rs748591526 0.00001
NM_001849.4(COL6A2):c.1609-17T>C rs1188602280 0.00001
NM_001849.4(COL6A2):c.1609-20A>G rs1291554758 0.00001
NM_001849.4(COL6A2):c.1609-7G>A rs555312732 0.00001
NM_001849.4(COL6A2):c.1620C>T (p.Gly540=) rs774587547 0.00001
NM_001849.4(COL6A2):c.1683T>C (p.Gly561=) rs564536740 0.00001
NM_001849.4(COL6A2):c.1731C>T (p.Pro577=) rs189470660 0.00001
NM_001849.4(COL6A2):c.1734+14C>T rs886057167 0.00001
NM_001849.4(COL6A2):c.1735-14C>T rs762776002 0.00001
NM_001849.4(COL6A2):c.1746C>T (p.Gly582=) rs1158803111 0.00001
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=) rs1422175519 0.00001
NM_001849.4(COL6A2):c.1770+11C>T rs755518889 0.00001
NM_001849.4(COL6A2):c.1770+18C>T rs1040827784 0.00001
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=) rs751987553 0.00001
NM_001849.4(COL6A2):c.1816+9C>T rs1456625954 0.00001
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met) rs746193653 0.00001
NM_001849.4(COL6A2):c.1854C>T (p.Phe618=) rs770024474 0.00001
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=) rs367857478 0.00001
NM_001849.4(COL6A2):c.1887C>T (p.Thr629=) rs758542107 0.00001
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile) rs554113319 0.00001
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met) rs1032420539 0.00001
NM_001849.4(COL6A2):c.1970-16C>T rs370331777 0.00001
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met) rs758788067 0.00001
NM_001849.4(COL6A2):c.1989G>A (p.Val663=) rs944558259 0.00001
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335 0.00001
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=) rs771823896 0.00001
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00001
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys) rs763502626 0.00001
NM_001849.4(COL6A2):c.207C>T (p.His69=) rs754275746 0.00001
NM_001849.4(COL6A2):c.2082C>T (p.Leu694=) rs763384399 0.00001
NM_001849.4(COL6A2):c.2118C>T (p.Ala706=) rs759188267 0.00001
NM_001849.4(COL6A2):c.2121C>G (p.Leu707=) rs764727296 0.00001
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=) rs531816975 0.00001
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu) rs746159648 0.00001
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=) rs1345626063 0.00001
NM_001849.4(COL6A2):c.2166G>A (p.Lys722=) rs930056910 0.00001
NM_001849.4(COL6A2):c.2265G>A (p.Thr755=) rs367994212 0.00001
NM_001849.4(COL6A2):c.2298G>A (p.Lys766=) rs1487961328 0.00001
NM_001849.4(COL6A2):c.2394C>T (p.Ile798=) rs756575729 0.00001
NM_001849.4(COL6A2):c.2401A>G (p.Met801Val) rs202155540 0.00001
NM_001849.4(COL6A2):c.2412C>T (p.Val804=) rs909940106 0.00001
NM_001849.4(COL6A2):c.2423-18C>T rs866625140 0.00001
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=) rs776788517 0.00001
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met) rs746393019 0.00001
NM_001849.4(COL6A2):c.2457A>G (p.Gln819=) rs201518654 0.00001
NM_001849.4(COL6A2):c.2461+11G>A rs200484565 0.00001
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro) rs1243558040 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_001849.4(COL6A2):c.2496G>A (p.Val832=) rs567775494 0.00001
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His) rs201035005 0.00001
NM_001849.4(COL6A2):c.2640G>A (p.Leu880=) rs546825359 0.00001
NM_001849.4(COL6A2):c.2663A>G (p.Gln888Arg) rs750318665 0.00001
NM_001849.4(COL6A2):c.2713C>T (p.Leu905=) rs753611948 0.00001
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=) rs747734639 0.00001
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=) rs751630559 0.00001
NM_001849.4(COL6A2):c.2766G>A (p.Val922=) rs557446829 0.00001
NM_001849.4(COL6A2):c.2781C>T (p.Ala927=) rs776437060 0.00001
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu) rs780505425 0.00001
NM_001849.4(COL6A2):c.2832C>T (p.Phe944=) rs912421199 0.00001
NM_001849.4(COL6A2):c.2853C>A (p.Val951=) rs745419873 0.00001
NM_001849.4(COL6A2):c.2862C>T (p.Asn954=) rs761975390 0.00001
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu) rs750097119 0.00001
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=) rs759502409 0.00001
NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile) rs753423696 0.00001
NM_001849.4(COL6A2):c.2988G>A (p.Val996=) rs1221541120 0.00001
NM_001849.4(COL6A2):c.3000G>A (p.Lys1000=) rs780794521 0.00001
NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val) rs1157175258 0.00001
NM_001849.4(COL6A2):c.315G>A (p.Val105=) rs1467107121 0.00001
NM_001849.4(COL6A2):c.33C>G (p.Leu11=) rs765568801 0.00001
NM_001849.4(COL6A2):c.390C>T (p.Arg130=) rs544610322 0.00001
NM_001849.4(COL6A2):c.408C>T (p.Cys136=) rs745970130 0.00001
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp) rs749711324 0.00001
NM_001849.4(COL6A2):c.459C>T (p.Thr153=) rs764014106 0.00001
NM_001849.4(COL6A2):c.468C>T (p.Phe156=) rs144117982 0.00001
NM_001849.4(COL6A2):c.498C>T (p.Thr166=) rs762436629 0.00001
NM_001849.4(COL6A2):c.576C>T (p.Pro192=) rs757571306 0.00001
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu) rs559666084 0.00001
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu) rs1355259368 0.00001
NM_001849.4(COL6A2):c.714+14G>A rs781213927 0.00001
NM_001849.4(COL6A2):c.726C>T (p.Ala242=) rs767184248 0.00001
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg) rs199806576 0.00001
NM_001849.4(COL6A2):c.805G>A (p.Ala269Thr) rs1354826916 0.00001
NM_001849.4(COL6A2):c.864G>A (p.Pro288=) rs375307603 0.00001
NM_001849.4(COL6A2):c.924G>A (p.Glu308=) rs142674726 0.00001
NM_001849.4(COL6A2):c.951C>T (p.Arg317=) rs369190399 0.00001
NM_001849.4(COL6A2):c.955-10C>T rs751105293 0.00001
NM_001849.4(COL6A2):c.955-17C>T rs372393202 0.00001
NM_001849.4(COL6A2):c.955-6C>T rs781214021 0.00001
NM_001849.4(COL6A2):c.978G>A (p.Lys326=) rs1480541163 0.00001
NM_001849.4(COL6A2):c.987C>T (p.Thr329=) rs748215430 0.00001
NM_001849.4(COL6A2):c.999+7G>A rs199783099 0.00001
NM_001849.4(COL6A2):c.1000-10T>C rs1036136617
NM_001849.4(COL6A2):c.1000-13C>T
NM_001849.4(COL6A2):c.1000-14C>T
NM_001849.4(COL6A2):c.1000-15C>T rs902044548
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=) rs1568930411
NM_001849.4(COL6A2):c.102C>T (p.Asn34=)
NM_001849.4(COL6A2):c.1054-12C>T
NM_001849.4(COL6A2):c.1054-7C>G rs762738666
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His) rs188184732
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=) rs374673302
NM_001849.4(COL6A2):c.1110C>T (p.Gly370=)
NM_001849.4(COL6A2):c.1117-4C>T rs2123635658
NM_001849.4(COL6A2):c.1117-8C>T rs1601231143
NM_001849.4(COL6A2):c.1119G>A (p.Gly373=) rs760861317
NM_001849.4(COL6A2):c.115+12C>T
NM_001849.4(COL6A2):c.115+13G>A
NM_001849.4(COL6A2):c.115+16G>A
NM_001849.4(COL6A2):c.115+17G>A
NM_001849.4(COL6A2):c.115+19C>T
NM_001849.4(COL6A2):c.115+19_115+25del rs757969178
NM_001849.4(COL6A2):c.116-14C>G
NM_001849.4(COL6A2):c.1179+20C>T
NM_001849.4(COL6A2):c.1180-10C>G rs777782503
NM_001849.4(COL6A2):c.1180-15C>T
NM_001849.4(COL6A2):c.1180-16T>C rs1355356965
NM_001849.4(COL6A2):c.1180-5_1180-3del rs774369631
NM_001849.4(COL6A2):c.1191C>T (p.Gly397=)
NM_001849.4(COL6A2):c.1236C>G (p.Gly412=)
NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)
NM_001849.4(COL6A2):c.1251C>G (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1269+14G>A
NM_001849.4(COL6A2):c.1269+17C>A
NM_001849.4(COL6A2):c.1269+7C>T rs751071208
NM_001849.4(COL6A2):c.1269+9C>T
NM_001849.4(COL6A2):c.1270-8C>A rs1601233823
NM_001849.4(COL6A2):c.1270-8C>T
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=) rs1601233959
NM_001849.4(COL6A2):c.129C>T (p.Cys43=) rs755324001
NM_001849.4(COL6A2):c.1300A>G (p.Ser434Gly)
NM_001849.4(COL6A2):c.1302C>T (p.Ser434=) rs1230708321
NM_001849.4(COL6A2):c.132C>T (p.Pro44=) rs2123614144
NM_001849.4(COL6A2):c.1332+11G>T
NM_001849.4(COL6A2):c.1333-12C>T
NM_001849.4(COL6A2):c.1333-5C>T rs2078547153
NM_001849.4(COL6A2):c.1333-9_1333-5del rs1193152104
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1338C>T (p.Asp446=)
NM_001849.4(COL6A2):c.1368T>C (p.Ala456=)
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=) rs1601235960
NM_001849.4(COL6A2):c.1395+20_1395+59dup rs1363017776
NM_001849.4(COL6A2):c.1395+7G>A
NM_001849.4(COL6A2):c.1395+9_1395+38del
NM_001849.4(COL6A2):c.1396-20A>C rs1398193069
NM_001849.4(COL6A2):c.1396-4C>A
NM_001849.4(COL6A2):c.1396-8T>C
NM_001849.4(COL6A2):c.1398A>G (p.Gly466=) rs758072176
NM_001849.4(COL6A2):c.1425C>A (p.Gly475=)
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=) rs745867374
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=) rs528087300
NM_001849.4(COL6A2):c.1459-11C>T
NM_001849.4(COL6A2):c.1459-13C>G
NM_001849.4(COL6A2):c.1459-17T>C rs2123646541
NM_001849.4(COL6A2):c.1459-5del
NM_001849.4(COL6A2):c.1459-6C>T rs2078566233
NM_001849.4(COL6A2):c.1459-7C>G
NM_001849.4(COL6A2):c.1497A>T (p.Gly499=)
NM_001849.4(COL6A2):c.1503A>C (p.Ser501=) rs2123646795
NM_001849.4(COL6A2):c.150G>T (p.Val50=) rs2123614200
NM_001849.4(COL6A2):c.1521+10C>T rs753385303
NM_001849.4(COL6A2):c.1521+19G>A
NM_001849.4(COL6A2):c.1521+9C>T
NM_001849.4(COL6A2):c.1522-12G>C rs770511180
NM_001849.4(COL6A2):c.1522-13C>T
NM_001849.4(COL6A2):c.1522-17T>C
NM_001849.4(COL6A2):c.1522-20G>C
NM_001849.4(COL6A2):c.1522-8T>C
NM_001849.4(COL6A2):c.1522-9C>A rs371576207
NM_001849.4(COL6A2):c.1530C>G (p.Pro510=) rs199842179
NM_001849.4(COL6A2):c.1534A>C (p.Arg512=)
NM_001849.4(COL6A2):c.1572+13C>G rs2078577323
NM_001849.4(COL6A2):c.1573-13G>A rs771931533
NM_001849.4(COL6A2):c.1573-14T>C rs2078581898
NM_001849.4(COL6A2):c.1573-20G>A
NM_001849.4(COL6A2):c.1573-8C>T
NM_001849.4(COL6A2):c.1590C>T (p.Pro530=) rs758975198
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=) rs1394972929
NM_001849.4(COL6A2):c.159C>G (p.Thr53=) rs2123614218
NM_001849.4(COL6A2):c.1608+13C>G
NM_001849.4(COL6A2):c.1608+17G>C
NM_001849.4(COL6A2):c.1609-19C>T
NM_001849.4(COL6A2):c.1614C>G (p.Gly538=)
NM_001849.4(COL6A2):c.1647G>A (p.Gly549=)
NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)
NM_001849.4(COL6A2):c.1671+10A>C rs915786
NM_001849.4(COL6A2):c.1671+12C>G
NM_001849.4(COL6A2):c.1671+7G>A
NM_001849.4(COL6A2):c.1671+9_1671+10inv
NM_001849.4(COL6A2):c.1672-15_1672-13del
NM_001849.4(COL6A2):c.1672-20C>T
NM_001849.4(COL6A2):c.1689T>G (p.Pro563=)
NM_001849.4(COL6A2):c.1693G>A (p.Glu565Lys)
NM_001849.4(COL6A2):c.1713A>G (p.Pro571=) rs2123658659
NM_001849.4(COL6A2):c.1734+16G>A
NM_001849.4(COL6A2):c.1734+9G>A
NM_001849.4(COL6A2):c.1735-11_1735-10delinsCT rs2123659310
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=) rs764878153
NM_001849.4(COL6A2):c.174C>G (p.Thr58=)
NM_001849.4(COL6A2):c.1750C>G (p.Pro584Ala)
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.1770+12A>G
NM_001849.4(COL6A2):c.1770+13T>C
NM_001849.4(COL6A2):c.1770+15G>C
NM_001849.4(COL6A2):c.1771-12T>C
NM_001849.4(COL6A2):c.1771-16G>A
NM_001849.4(COL6A2):c.1771-19C>T
NM_001849.4(COL6A2):c.1771-20G>C
NM_001849.4(COL6A2):c.1771-9G>A
NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)
NM_001849.4(COL6A2):c.1797G>A (p.Arg599=) rs370858447
NM_001849.4(COL6A2):c.1816+11G>A
NM_001849.4(COL6A2):c.1816+12C>T
NM_001849.4(COL6A2):c.1816+17G>A
NM_001849.4(COL6A2):c.1816+18_1816+30del
NM_001849.4(COL6A2):c.1816+19_1816+28del
NM_001849.4(COL6A2):c.1816+20A>C
NM_001849.4(COL6A2):c.1816+9C>A rs1456625954
NM_001849.4(COL6A2):c.1817-18A>C
NM_001849.4(COL6A2):c.1817-19G>A rs2123661488
NM_001849.4(COL6A2):c.1817-4C>A
NM_001849.4(COL6A2):c.1817-4C>T rs373659176
NM_001849.4(COL6A2):c.1817-9C>T rs766915366
NM_001849.4(COL6A2):c.1827G>A (p.Lys609=) rs1451931496
NM_001849.4(COL6A2):c.1840C>T (p.Leu614=)
NM_001849.4(COL6A2):c.1845C>T (p.Asp615=) rs908989305
NM_001849.4(COL6A2):c.1917C>T (p.Ile639=)
NM_001849.4(COL6A2):c.1929C>T (p.Asn643=) rs1472678084
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=) rs776676512
NM_001849.4(COL6A2):c.1935G>A (p.Leu645=) rs1458485829
NM_001849.4(COL6A2):c.1954C>T (p.Pro652Ser)
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=) rs547589437
NM_001849.4(COL6A2):c.1969+10G>T rs201259184
NM_001849.4(COL6A2):c.1969+11C>T
NM_001849.4(COL6A2):c.1969+12_1969+17dup rs760398644
NM_001849.4(COL6A2):c.1969+12_1969+38dup
NM_001849.4(COL6A2):c.1969+12_1969+48del rs2123662331
NM_001849.4(COL6A2):c.1969+12del
NM_001849.4(COL6A2):c.1969+17C>G rs539735984
NM_001849.4(COL6A2):c.1969+19G>A
NM_001849.4(COL6A2):c.1969+20G>C
NM_001849.4(COL6A2):c.1969+20G>T
NM_001849.4(COL6A2):c.1969+7G>A
NM_001849.4(COL6A2):c.1970-12_1970-9dup
NM_001849.4(COL6A2):c.1970-14C>G
NM_001849.4(COL6A2):c.1970-4G>T
NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)
NM_001849.4(COL6A2):c.1980G>T (p.Val660=) rs201427728
NM_001849.4(COL6A2):c.1983C>T (p.Gly661=)
NM_001849.4(COL6A2):c.2007C>T (p.Gly669=) rs369568238
NM_001849.4(COL6A2):c.201C>T (p.Leu67=) rs1601216910
NM_001849.4(COL6A2):c.2022C>T (p.Ile674=)
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=) rs1601249990
NM_001849.4(COL6A2):c.2044G>A (p.Asp682Asn)
NM_001849.4(COL6A2):c.2070T>C (p.Ala690=)
NM_001849.4(COL6A2):c.2124G>A (p.Lys708=)
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
NM_001849.4(COL6A2):c.2148G>A (p.Lys716=)
NM_001849.4(COL6A2):c.2151G>A (p.Glu717=)
NM_001849.4(COL6A2):c.2156G>A (p.Arg719Gln)
NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His) rs145450812
NM_001849.4(COL6A2):c.2172T>G (p.Arg724=) rs2123663974
NM_001849.4(COL6A2):c.2175G>A (p.Val725=) rs2123663986
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=) rs1334569870
NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)
NM_001849.4(COL6A2):c.21C>T (p.Ser7=) rs760481395
NM_001849.4(COL6A2):c.2208C>T (p.Asp736=)
NM_001849.4(COL6A2):c.2214G>A (p.Arg738=)
NM_001849.4(COL6A2):c.2218G>A (p.Asp740Asn)
NM_001849.4(COL6A2):c.2226C>T (p.Leu742=) rs775259194
NM_001849.4(COL6A2):c.2230T>C (p.Leu744=) rs962884368
NM_001849.4(COL6A2):c.2233C>A (p.Arg745=) rs140643748
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.4(COL6A2):c.2256C>T (p.Val752=)
NM_001849.4(COL6A2):c.225G>A (p.Pro75=)
NM_001849.4(COL6A2):c.2297A>C (p.Lys766Thr)
NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)
NM_001849.4(COL6A2):c.2340A>C (p.Pro780=) rs757806161
NM_001849.4(COL6A2):c.2343G>A (p.Gln781=)
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=) rs775201159
NM_001849.4(COL6A2):c.2370C>G (p.Ser790=)
NM_001849.4(COL6A2):c.2422+17G>A
NM_001849.4(COL6A2):c.2422+7G>A rs773282809
NM_001849.4(COL6A2):c.2422+8T>C rs1220569382
NM_001849.4(COL6A2):c.2423-11CT[2] rs756221937
NM_001849.4(COL6A2):c.2423-12C>T
NM_001849.4(COL6A2):c.2423-17T>C
NM_001849.4(COL6A2):c.2423-18CT[2] rs2123666734
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCTCTCTCC
NM_001849.4(COL6A2):c.2423-19C>T
NM_001849.4(COL6A2):c.2445C>T (p.Asp815=) rs2078672055
NM_001849.4(COL6A2):c.2451C>G (p.Pro817=) rs2123667105
NM_001849.4(COL6A2):c.2461+15C>T rs1057002808
NM_001849.4(COL6A2):c.2461+9G>A rs2078672583
NM_001849.4(COL6A2):c.2462-20G>C
NM_001849.4(COL6A2):c.2462-20G>T
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2462-8C>T rs1419954494
NM_001849.4(COL6A2):c.2472G>A (p.Val824=) rs1484313723
NM_001849.4(COL6A2):c.2500A>G (p.Ile834Val)
NM_001849.4(COL6A2):c.2502C>A (p.Ile834=) rs369040271
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=) rs369040271
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
NM_001849.4(COL6A2):c.2535T>C (p.Gly845=) rs748054346
NM_001849.4(COL6A2):c.2571G>A (p.Glu857=)
NM_001849.4(COL6A2):c.2579C>T (p.Ala860Val)
NM_001849.4(COL6A2):c.2580G>T (p.Ala860=)
NM_001849.4(COL6A2):c.2584C>A (p.Arg862=)
NM_001849.4(COL6A2):c.2586G>A (p.Arg862=)
NM_001849.4(COL6A2):c.2599C>A (p.Arg867=) rs144484744
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=) rs147044688
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met) rs369396198
NM_001849.4(COL6A2):c.2637G>C (p.Leu879=) rs1339393899
NM_001849.4(COL6A2):c.2637G>T (p.Leu879=)
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=) rs908318849
NM_001849.4(COL6A2):c.2670G>A (p.Val890=)
NM_001849.4(COL6A2):c.267G>A (p.Gln89=)
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2706C>T (p.His902=)
NM_001849.4(COL6A2):c.2718G>A (p.Glu906=)
NM_001849.4(COL6A2):c.2751G>A (p.Val917=) rs111341650
NM_001849.4(COL6A2):c.27C>T (p.Leu9=)
NM_001849.4(COL6A2):c.2811G>A (p.Arg937=) rs200652329
NM_001849.4(COL6A2):c.2820A>G (p.Ala940=) rs769894173
NM_001849.4(COL6A2):c.2826G>A (p.Leu942=) rs768497480
NM_001849.4(COL6A2):c.2826G>C (p.Leu942=) rs768497480
NM_001849.4(COL6A2):c.2828C>T (p.Ser943Phe)
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile) rs111630733
NM_001849.4(COL6A2):c.2856G>C (p.Thr952=) rs138074469
NM_001849.4(COL6A2):c.2871G>C (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2874C>G (p.His958Gln)
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln) rs150168522
NM_001849.4(COL6A2):c.2880G>T (p.Ser960=)
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)
NM_001849.4(COL6A2):c.291C>T (p.Gly97=) rs1007921670
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=) rs2078774154
NM_001849.4(COL6A2):c.2928G>A (p.Leu976=)
NM_001849.4(COL6A2):c.2932A>T (p.Ser978Cys)
NM_001849.4(COL6A2):c.2940G>A (p.Val980=) rs886044694
NM_001849.4(COL6A2):c.2943C>T (p.Asp981=)
NM_001849.4(COL6A2):c.2961G>T (p.Thr987=) rs149845431
NM_001849.4(COL6A2):c.2988G>T (p.Val996=)
NM_001849.4(COL6A2):c.2991C>T (p.Phe997=) rs1555877365
NM_001849.4(COL6A2):c.2997G>A (p.Glu999=) rs751494076
NM_001849.4(COL6A2):c.300C>T (p.His100=) rs765941470
NM_001849.4(COL6A2):c.3013C>T (p.Leu1005=) rs2123456173
NM_001849.4(COL6A2):c.3033C>T (p.Phe1011=)
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys) rs762516507
NM_001849.4(COL6A2):c.3044T>C (p.Ile1015Thr)
NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)
NM_001849.4(COL6A2):c.312G>A (p.Gln104=)
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
NM_001849.4(COL6A2):c.345G>A (p.Arg115=) rs138007666
NM_001849.4(COL6A2):c.393C>T (p.Gly131=)
NM_001849.4(COL6A2):c.396C>T (p.Thr132=)
NM_001849.4(COL6A2):c.399C>T (p.Phe133=) rs547695695
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met) rs866311790
NM_001849.4(COL6A2):c.486C>T (p.Asp162=)
NM_001849.4(COL6A2):c.513G>A (p.Gly171=) rs1291272464
NM_001849.4(COL6A2):c.564C>T (p.Phe188=)
NM_001849.4(COL6A2):c.586C>T (p.Leu196=) rs1222208626
NM_001849.4(COL6A2):c.588G>A (p.Leu196=)
NM_001849.4(COL6A2):c.627C>T (p.His209=) rs545218705
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn) rs563449281
NM_001849.4(COL6A2):c.678C>T (p.Ile226=)
NM_001849.4(COL6A2):c.702C>T (p.Ile234=) rs1369161493
NM_001849.4(COL6A2):c.708G>A (p.Lys236=)
NM_001849.4(COL6A2):c.714+18G>A
NM_001849.4(COL6A2):c.714+8G>A rs1489436620
NM_001849.4(COL6A2):c.714+8G>T
NM_001849.4(COL6A2):c.715-14T>C
NM_001849.4(COL6A2):c.715-18T>C
NM_001849.4(COL6A2):c.736-8C>T
NM_001849.4(COL6A2):c.75C>T (p.Val25=) rs2078398447
NM_001849.4(COL6A2):c.780C>T (p.Pro260=) rs1021304559
NM_001849.4(COL6A2):c.802-9T>C
NM_001849.4(COL6A2):c.837T>A (p.Pro279=)
NM_001849.4(COL6A2):c.852A>G (p.Arg284=)
NM_001849.4(COL6A2):c.855+16C>T
NM_001849.4(COL6A2):c.856-15C>T
NM_001849.4(COL6A2):c.856-9C>T
NM_001849.4(COL6A2):c.896C>A (p.Pro299His)
NM_001849.4(COL6A2):c.901-10C>T rs754039292
NM_001849.4(COL6A2):c.901-11_901-9del
NM_001849.4(COL6A2):c.901-20C>T
NM_001849.4(COL6A2):c.927+12G>T
NM_001849.4(COL6A2):c.927+14C>T
NM_001849.4(COL6A2):c.927+16T>C rs2123627287
NM_001849.4(COL6A2):c.927+9_927+21del rs2123627262
NM_001849.4(COL6A2):c.928-11C>T
NM_001849.4(COL6A2):c.928-11del rs2123628057
NM_001849.4(COL6A2):c.928-18G>A
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
NM_001849.4(COL6A2):c.948T>C (p.Gly316=) rs764665426
NM_001849.4(COL6A2):c.954+14G>A rs2123628304
NM_001849.4(COL6A2):c.954+8G>A rs1377719373
NM_001849.4(COL6A2):c.955-15T>G
NM_001849.4(COL6A2):c.955-19C>T
NM_001849.4(COL6A2):c.990T>C (p.Asp330=)
NM_001849.4(COL6A2):c.999+12C>T
NM_001849.4(COL6A2):c.999+15G>C
NM_001849.4(COL6A2):c.999+18C>T

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