NC_000021.9:g.(?_45989064)_(45989157_?)del


NM_001848.2(COL6A1):c.1002+6_1002+88delTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC

rs1556425727 
NM_001848.2(COL6A1):c.10032delA

rs1556425835 
NM_001848.2(COL6A1):c.1003_1056del54

rs398123631 
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val)

rs121912935 
NM_001848.2(COL6A1):c.1029A>C (p.Pro343=)

rs1556425843 
NM_001848.2(COL6A1):c.1030G>C (p.Gly344Arg)


NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu)

rs142882745 
NM_001848.2(COL6A1):c.1047C>T (p.Pro349=)

rs202227298 
NM_001848.2(COL6A1):c.1056+5G>A

rs886044511 
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=)

rs116343553 
NM_001848.2(COL6A1):c.105C>G (p.Pro35=)

rs145579577 
NM_001848.2(COL6A1):c.1095_1096invTG (p.Ala366Thr)


NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly)

rs149338158 
NM_001848.2(COL6A1):c.1122C>T (p.Gly374=)

rs373535692 
NM_001848.2(COL6A1):c.1182+3G>A

rs62215499 
NM_001848.2(COL6A1):c.1182+5G>C


NM_001848.2(COL6A1):c.1190C>T (p.Pro397Leu)

rs746386684 
NM_001848.2(COL6A1):c.1227G>A (p.Ala409=)

rs557250335 
NM_001848.2(COL6A1):c.1231G>A (p.Asp411Asn)


NM_001848.2(COL6A1):c.1271G>A (p.Arg424Gln)

rs761729281 
NM_001848.2(COL6A1):c.12738C>T

rs7280215 
NM_001848.2(COL6A1):c.1294C>A (p.Pro432Thr)


NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln)

rs151158105 
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=)

rs7279254 
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln)

rs35059000 
NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr)

rs886057153 
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=)

rs144887329 
NM_001848.2(COL6A1):c.1378G>T (p.Val460Phe)

rs375452881 
NM_001848.2(COL6A1):c.1379T>C (p.Val460Ala)

rs140735590 
NM_001848.2(COL6A1):c.1397C>T (p.Pro466Leu)

rs746962124 
NM_001848.2(COL6A1):c.1398+10G>A

rs143438559 
NM_001848.2(COL6A1):c.1398+2T>G


NM_001848.2(COL6A1):c.13998C>G

rs749529856 
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=)

rs80244281 
NM_001848.2(COL6A1):c.1459G>A (p.Glu487Lys)


NM_001848.2(COL6A1):c.14628C>T

rs199849694 
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val)

rs117340427 
NM_001848.2(COL6A1):c.148delC (p.Leu50Terfs)

rs1556423728 
NM_001848.2(COL6A1):c.14G>A (p.Arg5His)

rs1556423460 
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=)

rs139987124 
NM_001848.2(COL6A1):c.1508G>A (p.Gly503Glu)

rs1556428597 
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=)

rs35134265 
NM_001848.2(COL6A1):c.1540G>A (p.Ala514Thr)

rs760815168 
NM_001848.2(COL6A1):c.15761G>A


NM_001848.2(COL6A1):c.1584G>A (p.Pro528=)

rs139243418 
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=)

rs143755280 
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg)

rs764556767 
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=)

rs200023632 
NM_001848.2(COL6A1):c.161210G>A

rs141892165 
NM_001848.2(COL6A1):c.16126C>T

rs143812383 
NM_001848.2(COL6A1):c.162C>T (p.Pro54=)

rs775062782 
NM_001848.2(COL6A1):c.1644C>T (p.Asp548=)

rs182425338 
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg)

rs886043521 
NM_001848.2(COL6A1):c.1681G>A (p.Asp561Asn)

rs140517685 
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val)

rs374315921 
NM_001848.2(COL6A1):c.1708G>A (p.Ala570Thr)

rs144358858 
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp)

rs143502850 
NM_001848.2(COL6A1):c.1729G>A (p.Glu577Lys)

rs552634753 
NM_001848.2(COL6A1):c.17416G>A

rs200334019 
NM_001848.2(COL6A1):c.1745C>T (p.Pro582Leu)

rs766478019 
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=)

rs74852641 
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=)

rs148439285 
NM_001848.2(COL6A1):c.18146C>G

rs182804464 
NM_001848.2(COL6A1):c.18231G>T


NM_001848.2(COL6A1):c.18238G>A

rs184666690 
NM_001848.2(COL6A1):c.1825T>C (p.Cys609Arg)


NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr)

rs768906709 
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=)

rs142554239 
NM_001848.2(COL6A1):c.1848_1850delCCT (p.Leu617del)

rs1085307560 
NM_001848.2(COL6A1):c.1855G>A (p.Val619Met)

rs150938324 
NM_001848.2(COL6A1):c.1877T>C (p.Ile626Thr)

rs781626943 
NM_001848.2(COL6A1):c.1908C>G (p.Asp636Glu)

rs886042572 
NM_001848.2(COL6A1):c.1930C>T (p.Arg644Trp)

rs146622557 
NM_001848.2(COL6A1):c.19575C>T

rs78224483 
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=)

rs112104768 
NM_001848.2(COL6A1):c.2009T>C (p.Met670Thr)

rs776241591 
NM_001848.2(COL6A1):c.2022G>A (p.Val674=)

rs764099825 
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys)

rs137964147 
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr)

rs138884734 
NM_001848.2(COL6A1):c.2044C>T (p.Arg682Trp)

rs777378283 
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln)

rs148962954 
NM_001848.2(COL6A1):c.2049C>T (p.Asn683=)

rs143695871 
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=)

rs8132678 
NM_001848.2(COL6A1):c.206710T>C

rs200727020 
NM_001848.2(COL6A1):c.20676A>G

rs113876477 
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=)

rs147219060 
NM_001848.2(COL6A1):c.2157G>C (p.Pro719=)

rs377152990 
NM_001848.2(COL6A1):c.2200A>G (p.Thr734Ala)

rs562898957 
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=)

rs138976133 
NM_001848.2(COL6A1):c.2250+6G>C

rs202212586 
NM_001848.2(COL6A1):c.2343G>A (p.Gln781=)

rs755487987 
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln)

rs200261890 
NM_001848.2(COL6A1):c.2352C>T (p.Pro784=)

rs377558756 
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=)

rs149910296 
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His)

rs140547835 
NM_001848.2(COL6A1):c.2431_2434+36del

rs759918870 
NM_001848.2(COL6A1):c.2434+15_2434+54del40

rs1064795349 
NM_001848.2(COL6A1):c.2434+4C>T

rs202147670 
NM_001848.2(COL6A1):c.2437A>G (p.Lys813Glu)

rs936641232 
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg)

rs11553518 
NM_001848.2(COL6A1):c.2464+9C>T

rs368651226 
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=)

rs146662894 
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=)

rs141463437 
NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro)

rs748327110 
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=)

rs367832752 
NM_001848.2(COL6A1):c.2603C>T (p.Ala868Val)


NM_001848.2(COL6A1):c.2611G>A (p.Val871Met)

rs374685631 
NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp)

rs368561027 
NM_001848.2(COL6A1):c.2615G>A (p.Arg872Gln)

rs377586358 
NM_001848.2(COL6A1):c.2622G>A (p.Ala874=)

rs371763977 
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly)

rs140534207 
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=)

rs540554122 
NM_001848.2(COL6A1):c.2638G>A (p.Gly880Ser)

rs544927344 
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met)

rs150432347 
NM_001848.2(COL6A1):c.2663G>A (p.Arg888Gln)

rs138351067 
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=)

rs372931456 
NM_001848.2(COL6A1):c.2705G>A (p.Ser902Asn)

rs757422397 
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=)

rs139018148 
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=)

rs13879 
NM_001848.2(COL6A1):c.273G>A (p.Leu91=)

rs759821375 
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=)

rs115163637 
NM_001848.2(COL6A1):c.2746G>A (p.Val916Ile)

rs563043611 
NM_001848.2(COL6A1):c.2751C>T (p.Asn917=)

rs767760988 
NM_001848.2(COL6A1):c.2758C>T (p.Leu920=)

rs141620374 
NM_001848.2(COL6A1):c.2768T>G (p.Val923Gly)


NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=)

rs61735853 
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His)

rs144671871 
NM_001848.2(COL6A1):c.2784C>T (p.Arg928=)

rs775569169 
NM_001848.2(COL6A1):c.2785G>A (p.Glu929Lys)

rs145846228 
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu)

rs117583120 
NM_001848.2(COL6A1):c.2820G>A (p.Leu940=)

rs111451684 
NM_001848.2(COL6A1):c.2852C>T (p.Thr951Met)

rs371111712 
NM_001848.2(COL6A1):c.2857G>T (p.Ala953Ser)


NM_001848.2(COL6A1):c.285C>G (p.Asp95Glu)

rs145811554 
NM_001848.2(COL6A1):c.2863A>G (p.Ile955Val)

rs373070436 
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=)

rs138062080 
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys)

rs149534094 
NM_001848.2(COL6A1):c.286G>A (p.Glu96Lys)

rs759023976 
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met)

rs200959957 
NM_001848.2(COL6A1):c.2876T>C (p.Val959Ala)

rs144814689 
NM_001848.2(COL6A1):c.2899A>G (p.Ile967Val)

rs777671647 
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met)

rs769795690 
NM_001848.2(COL6A1):c.2941C>A (p.Pro981Thr)


NM_001848.2(COL6A1):c.2950C>T (p.Arg984Cys)


NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg)

rs141605607 
NM_001848.2(COL6A1):c.3034C>T (p.Leu1012=)

rs150509473 
NM_001848.2(COL6A1):c.3041G>A (p.Arg1014His)


NM_001848.2(COL6A1):c.3054C>T (p.His1018=)

rs141237809 
NM_001848.2(COL6A1):c.324C>T (p.Gly108=)

rs138646508 
NM_001848.2(COL6A1):c.325G>A (p.Gly109Ser)

rs368580280 
NM_001848.2(COL6A1):c.331G>A (p.Asp111Asn)


NM_001848.2(COL6A1):c.344G>A (p.Ser115Asn)


NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn)

rs11553519 
NM_001848.2(COL6A1):c.349G>A (p.Val117Met)

rs150686304 
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala)

rs138899581 
NM_001848.2(COL6A1):c.356C>T (p.Ala119Val)

rs571641824 
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg)

rs121912936 
NM_001848.2(COL6A1):c.377G>T (p.Gly126Val)


NM_001848.2(COL6A1):c.381C>T (p.Thr127=)

rs75180385 
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val)

rs139648899 
NM_001848.2(COL6A1):c.423C>T (p.Leu141=)

rs373486149 
NM_001848.2(COL6A1):c.424G>C (p.Val142Leu)

rs144282452 
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg)

rs756141940 
NM_001848.2(COL6A1):c.554A>G (p.Lys185Arg)

rs754667407 
NM_001848.2(COL6A1):c.579C>T (p.Pro193=)

rs61751027 
NM_001848.2(COL6A1):c.588+8C>G

rs398123638 
NM_001848.2(COL6A1):c.596G>A (p.Arg199His)


NM_001848.2(COL6A1):c.5G>A (p.Arg2Lys)


NM_001848.2(COL6A1):c.609C>T (p.Ile203=)

rs369590506 
NM_001848.2(COL6A1):c.621C>A (p.His207Gln)

rs866987981 
NM_001848.2(COL6A1):c.623C>T (p.Thr208Met)

rs372199631 
NM_001848.2(COL6A1):c.624G>A (p.Thr208=)

rs573282005 
NM_001848.2(COL6A1):c.631C>G (p.Arg211Gly)

rs375217284 
NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys)

rs375217284 
NM_001848.2(COL6A1):c.645G>A (p.Ala215=)

rs115292913 
NM_001848.2(COL6A1):c.666C>T (p.Arg222=)

rs372581026 
NM_001848.2(COL6A1):c.669C>T (p.Asp223=)

rs552000247 
NM_001848.2(COL6A1):c.678G>A (p.Glu226=)

rs1370178953 
NM_001848.2(COL6A1):c.680C>T (p.Ala227Val)


NM_001848.2(COL6A1):c.69G>A (p.Pro23=)

rs149741299 
NM_001848.2(COL6A1):c.717+4A>G

rs762867111 
NM_001848.2(COL6A1):c.717+9C>T

rs183868804 
NM_001848.2(COL6A1):c.750C>A (p.Phe250Leu)

rs748153811 
NM_001848.2(COL6A1):c.763G>A (p.Ala255Thr)

rs145473829 
NM_001848.2(COL6A1):c.777G>A (p.Pro259=)

rs61735854 
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val)


NM_001848.2(COL6A1):c.813A>G (p.Arg271=)

rs748184568 
NM_001848.2(COL6A1):c.814G>C (p.Gly272Arg)


NM_001848.2(COL6A1):c.821C>T (p.Pro274Leu)

rs201093313 
NM_001848.2(COL6A1):c.823G>T (p.Gly275Trp)

rs1556425467 
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val)

rs1556425468 
NM_001848.2(COL6A1):c.846_854delAGCCGGAGA (p.Glu282_Gly284del)

rs1556425474 
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg)

rs121912938 
NM_001848.2(COL6A1):c.85G>A (p.Val29Met)


NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg)

rs121912939 
NM_001848.2(COL6A1):c.868G>T (p.Gly290Trp)

rs121912939 
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg)

rs398123643 
NM_001848.2(COL6A1):c.880C>G (p.Pro294Ala)

rs141572895 
NM_001848.2(COL6A1):c.903+5G>A


NM_001848.2(COL6A1):c.905G>A (p.Gly302Glu)

rs1556425566 
NM_001848.2(COL6A1):c.930+189C>T

rs1556425596 
NM_001848.2(COL6A1):c.957_957+7del

rs1556425687 
NM_001848.2(COL6A1):c.9582A>G

rs1556425717 
NM_001848.2(COL6A1):c.986G>A

rs886042599 
NM_001848.2(COL6A1):c.981C>T (p.Ile327=)

rs138401567 
NM_001848.2(COL6A1):c.984C>T (p.Asp328=)

rs781038607 
NM_001848.2(COL6A1):c.993C>T (p.Asp331=)

rs373948031 
NM_001848.2(COL6A1):c.996C>T (p.Gly332=)

rs11702055 
NM_001848.2(COL6A1):c.997G>A (p.Val333Met)

rs201525908 