GRCh37/hg19 21q22.3(chr21:4740262047465205)x3


GRCh37/hg19 21q22.3(chr21:4741730347426252)x3


GRCh37/hg19 21q22.3(chr21:4742194747427839)x3


GRCh37/hg19 21q22.3(chr21:4742363647427839)x1


NC_000021.9:g.45987794del

rs66929103 
NM_001848.2(COL6A1):c.*8T>G

rs886042400 
NM_001848.2(COL6A1):c.1C>T

rs377142360 
NM_001848.2(COL6A1):c.368C>T

rs188909662 
NM_001848.2(COL6A1):c.1002+1G>A

rs886043700 
NM_001848.2(COL6A1):c.1002+1G>T

rs886043700 
NM_001848.2(COL6A1):c.1002+2T>G

rs1322590833 
NM_001848.2(COL6A1):c.1002+50C>A

rs11702079 
NM_001848.2(COL6A1):c.1002+55T>C

rs867427345 
NM_001848.2(COL6A1):c.100310C>T

rs182440627 
NM_001848.2(COL6A1):c.100312_1006delinsGGA

rs1556425832 
NM_001848.2(COL6A1):c.10031G>A

rs886043330 
NM_001848.2(COL6A1):c.10032del

rs1556425835 
NM_001848.2(COL6A1):c.100361T>G

rs1980981 
NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu)

rs794727121 
NM_001848.2(COL6A1):c.1015T>C (p.Tyr339His)

rs186775751 
NM_001848.2(COL6A1):c.1021G>C (p.Gly341Arg)

rs886043321 
NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys)

rs886043321 
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val)

rs121912935 
NM_001848.2(COL6A1):c.1024_1032del (p.Leu342_Gly344del)

rs398123630 
NM_001848.2(COL6A1):c.1029A>C (p.Pro343=)

rs1556425843 
NM_001848.2(COL6A1):c.1039_1052del (p.Lys346_Gly347insTer)

rs886043291 
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu)

rs142882745 
NM_001848.2(COL6A1):c.1056+1del

rs1556425853 
NM_001848.2(COL6A1):c.1056+4A>G

rs886043433 
NM_001848.2(COL6A1):c.1056+5G>T

rs886044511 
NM_001848.2(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)

rs886042646 
NM_001848.2(COL6A1):c.1092C>T (p.Pro364=)

rs368088970 
NM_001848.2(COL6A1):c.1096G>A (p.Ala366Thr)

rs183994910 
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly)

rs149338158 
NM_001848.2(COL6A1):c.1119+189T>C

rs10154031 
NM_001848.2(COL6A1):c.1119+209A>G

rs111557860 
NM_001848.2(COL6A1):c.1119+261G>A

rs55726338 
NM_001848.2(COL6A1):c.1122C>T (p.Gly374=)

rs373535692 
NM_001848.2(COL6A1):c.1132G>C (p.Ala378Pro)

rs1057518005 
NM_001848.2(COL6A1):c.1164G>A (p.Ser388=)

rs756085848 
NM_001848.2(COL6A1):c.1182+3G>A

rs62215499 
NM_001848.2(COL6A1):c.1226C>A (p.Ala409Glu)

rs765826390 
NM_001848.2(COL6A1):c.1231G>A (p.Asp411Asn)

rs575394639 
NM_001848.2(COL6A1):c.1233C>T (p.Asp411=)

rs140478280 
NM_001848.2(COL6A1):c.1234G>A (p.Glu412Lys)

rs751779784 
NM_001848.2(COL6A1):c.1236+2T>G

rs1037202843 
NM_001848.2(COL6A1):c.1236+5G>A

rs376327142 
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=)

rs148630223 
NM_001848.2(COL6A1):c.1264G>A (p.Gly422Arg)

rs774032338 
NM_001848.2(COL6A1):c.1267G>A (p.Glu423Lys)

rs1064796958 
NM_001848.2(COL6A1):c.1273138G>A

rs760439 
NM_001848.2(COL6A1):c.1273151G>A

rs760438 
NM_001848.2(COL6A1):c.12734T>C

rs373909354 
NM_001848.2(COL6A1):c.1285G>A (p.Glu429Lys)

rs755151758 
NM_001848.2(COL6A1):c.128A>C (p.Asp43Ala)

rs786205555 
NM_001848.2(COL6A1):c.1335+116C>T

rs2075893 
NM_001848.2(COL6A1):c.1335+27A>C

rs2850173 
NM_001848.2(COL6A1):c.1336152G>T

rs2850174 
NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu)

rs759834554 
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=)

rs144887329 
NM_001848.2(COL6A1):c.1352A>G (p.Gln451Arg)

rs764235653 
NM_001848.2(COL6A1):c.1379T>C (p.Val460Ala)

rs140735590 
NM_001848.2(COL6A1):c.138G>C (p.Glu46Asp)

rs886043183 
NM_001848.2(COL6A1):c.1398+10G>A

rs143438559 
NM_001848.2(COL6A1):c.1398G>A (p.Pro466=)

rs886042955 
NM_001848.2(COL6A1):c.1399111A>G

rs9979532 
NM_001848.2(COL6A1):c.1399129A>G

rs11701583 
NM_001848.2(COL6A1):c.1399272_1399210del

rs1569518630 
NM_001848.2(COL6A1):c.139932T>C

rs2839077 
NM_001848.2(COL6A1):c.13993C>T

rs200095847 
NM_001848.2(COL6A1):c.13998C>G

rs749529856 
NM_001848.2(COL6A1):c.1412C>T (p.Pro471Leu)

rs1569518656 
NM_001848.2(COL6A1):c.1425del (p.Gly476fs)

rs878854398 
NM_001848.2(COL6A1):c.1437C>T (p.Gly479=)

rs762625409 
NM_001848.2(COL6A1):c.1451C>T (p.Pro484Leu)

rs779748438 
NM_001848.2(COL6A1):c.1461+7C>T

rs994516309 
NM_001848.2(COL6A1):c.1461G>C (p.Glu487Asp)

rs1474176856 
NM_001848.2(COL6A1):c.146236A>G

rs2276255 
NM_001848.2(COL6A1):c.1477C>A (p.Pro493Thr)

rs760275915 
NM_001848.2(COL6A1):c.1505C>T (p.Pro502Leu)

rs398123632 
NM_001848.2(COL6A1):c.1509G>A (p.Gly503=)

rs1368309193 
NM_001848.2(COL6A1):c.152560A>G

rs3737437 
NM_001848.2(COL6A1):c.15259C>T

rs768508076 
NM_001848.2(COL6A1):c.1532A>G (p.Asp511Gly)

rs886044367 
NM_001848.2(COL6A1):c.1539C>T (p.Pro513=)

rs150834054 
NM_001848.2(COL6A1):c.1540G>A (p.Ala514Thr)

rs760815168 
NM_001848.2(COL6A1):c.1553C>A (p.Thr518Asn)

rs201935658 
NM_001848.2(COL6A1):c.1554C>T (p.Thr518=)

rs9637170 
NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys)

rs754384963 
NM_001848.2(COL6A1):c.1566C>T (p.Pro522=)

rs753063150 
NM_001848.2(COL6A1):c.1575C>T (p.Pro525=)

rs781031251 
NM_001848.2(COL6A1):c.157678G>C

rs11700844 
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.1611+1G>A

rs886042748 
NM_001848.2(COL6A1):c.1611+217T>C

rs4818811 
NM_001848.2(COL6A1):c.1611+8C>T

rs376055208 
NM_001848.2(COL6A1):c.1611C>A (p.Asn537Lys)

rs200023632 
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=)

rs200023632 
NM_001848.2(COL6A1):c.16125T>A

rs371587579 
NM_001848.2(COL6A1):c.1630G>A (p.Gly544Ser)

rs1064794846 
NM_001848.2(COL6A1):c.1641_1642del (p.Asp548fs)

rs1569518771 
NM_001848.2(COL6A1):c.1656C>T (p.Ala552=)

rs377213930 
NM_001848.2(COL6A1):c.1659G>A (p.Gly553=)

rs746962599 
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=)

rs369802454 
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg)

rs886043521 
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=)

rs770099663 
NM_001848.2(COL6A1):c.167555C>T

rs4819179 
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val)

rs374315921 
NM_001848.2(COL6A1):c.1693C>T (p.Arg565Ter)

rs1304888945 
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.1710A>C (p.Ala570=)

rs763515261 
NM_001848.2(COL6A1):c.1712A>C (p.Lys571Thr)

rs751040647 
NM_001848.2(COL6A1):c.1740+145G>T

rs13048481 
NM_001848.2(COL6A1):c.174151G>A

rs75434097 
NM_001848.2(COL6A1):c.17416G>A

rs200334019 
NM_001848.2(COL6A1):c.1763C>T (p.Pro588Leu)

rs759442615 
NM_001848.2(COL6A1):c.1776+141A>G

rs8131632 
NM_001848.2(COL6A1):c.1776+164G>A

rs73908116 
NM_001848.2(COL6A1):c.1776+174G>A

rs8130255 
NM_001848.2(COL6A1):c.1776+182_1776+183insA

rs796136319 
NM_001848.2(COL6A1):c.1776+188T>C

rs8126900 
NM_001848.2(COL6A1):c.1776+198C>T

rs8131227 
NM_001848.2(COL6A1):c.1776+91C>T

rs8131101 
NM_001848.2(COL6A1):c.1777229G>A

rs35900642 
NM_001848.2(COL6A1):c.1782C>T (p.Cys594=)

rs745847824 
NM_001848.2(COL6A1):c.1783G>A (p.Glu595Lys)

rs367650141 
NM_001848.2(COL6A1):c.1813+137C>T

rs4818812 
NM_001848.2(COL6A1):c.181467_181466insG

rs145985004 
NM_001848.2(COL6A1):c.18146C>G

rs182804464 
NM_001848.2(COL6A1):c.18148C>T

rs777017599 
NM_001848.2(COL6A1):c.1817G>T (p.Cys606Phe)

rs368925441 
NM_001848.2(COL6A1):c.1820G>A (p.Cys607Tyr)

rs886042538 
NM_001848.2(COL6A1):c.1822+185C>T

rs7276374 
NM_001848.2(COL6A1):c.1822+231G>A

rs11700421 
NM_001848.2(COL6A1):c.1822+42G>C

rs13053065 
NM_001848.2(COL6A1):c.1822+45C>G

rs7276098 
NM_001848.2(COL6A1):c.1822+45C>T

rs7276098 
NM_001848.2(COL6A1):c.1822+80G>A

rs7283989 
NM_001848.2(COL6A1):c.1822+88A>G

rs7276782 
NM_001848.2(COL6A1):c.1823196A>G

rs7277078 
NM_001848.2(COL6A1):c.1823199G>T

rs146010507 
NM_001848.2(COL6A1):c.18238G>T

rs184666690 
NM_001848.2(COL6A1):c.18239C>T

rs398123633 
NM_001848.2(COL6A1):c.1825T>C (p.Cys609Arg)

rs763495943 
NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr)

rs768906709 
NM_001848.2(COL6A1):c.1830G>T (p.Lys610Asn)

rs1355588311 
NM_001848.2(COL6A1):c.1837C>A (p.Pro613Thr)

rs200770631 
NM_001848.2(COL6A1):c.1848_1850delCCT

rs1085307560 
NM_001848.2(COL6A1):c.1898T>C (p.Ile633Thr)

rs1237092252 
NM_001848.2(COL6A1):c.1906G>A (p.Asp636Asn)

rs770002676 
NM_001848.2(COL6A1):c.1908C>G (p.Asp636Glu)

rs886042572 
NM_001848.2(COL6A1):c.1911C>T (p.Phe637=)

rs552239546 
NM_001848.2(COL6A1):c.1931G>A (p.Arg644Gln)

rs398123634 
NM_001848.2(COL6A1):c.19574A>G

rs184484842 
NM_001848.2(COL6A1):c.195778G>A

rs8131313 
NM_001848.2(COL6A1):c.195782C>T

rs8132377 
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=)

rs112104768 
NM_001848.2(COL6A1):c.1973C>T (p.Ser658Leu)

rs1260709010 
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=)

rs370780432 
NM_001848.2(COL6A1):c.2029C>T (p.Arg677Cys)

rs189623561 
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys)

rs137964147 
NM_001848.2(COL6A1):c.2034C>T (p.Ser678=)

rs750801808 
NM_001848.2(COL6A1):c.2035C>T (p.Pro679Ser)

rs756467809 
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.2050G>A (p.Val684Met)

rs138312247 
NM_001848.2(COL6A1):c.2050G>T (p.Val684Leu)

rs138312247 
NM_001848.2(COL6A1):c.2091G>A (p.Met697Ile)

rs372750707 
NM_001848.2(COL6A1):c.2097C>T (p.Gly699=)

rs537366421 
NM_001848.2(COL6A1):c.2109G>A (p.Thr703=)

rs760649238 
NM_001848.2(COL6A1):c.2122C>T (p.Gln708Ter)

rs1569519109 
NM_001848.2(COL6A1):c.2129C>T (p.Thr710Met)

rs765641686 
NM_001848.2(COL6A1):c.2132G>A (p.Arg711Gln)

rs766956281 
NM_001848.2(COL6A1):c.2147C>T (p.Pro716Leu)

rs755589190 
NM_001848.2(COL6A1):c.2148G>A (p.Pro716=)

rs780032842 
NM_001848.2(COL6A1):c.2151C>T (p.Pro717=)

rs886042949 
NM_001848.2(COL6A1):c.2156C>T (p.Pro719Leu)

rs753759904 
NM_001848.2(COL6A1):c.2160dup (p.Asn721fs)

rs1249738773 
NM_001848.2(COL6A1):c.2165G>A (p.Arg722His)

rs758242849 
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=)

rs369502543 
NM_001848.2(COL6A1):c.2190G>A (p.Gly730=)

rs777828224 
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys)

rs398123635 
NM_001848.2(COL6A1):c.2192G>A (p.Arg731His)

rs777293815 
NM_001848.2(COL6A1):c.2195C>T (p.Ser732Leu)

rs1556432119 
NM_001848.2(COL6A1):c.2200A>G (p.Thr734Ala)

rs562898957 
NM_001848.2(COL6A1):c.2213C>T (p.Thr738Ile)

rs1064796728 
NM_001848.2(COL6A1):c.2220G>T (p.Pro740=)

rs138976133 
NM_001848.2(COL6A1):c.225129C>T

rs35796750 
NM_001848.2(COL6A1):c.22516C>T

rs756140988 
NM_001848.2(COL6A1):c.2263G>A (p.Gly755Ser)

rs770610890 
NM_001848.2(COL6A1):c.226A>C (p.Arg76=)

rs886043954 
NM_001848.2(COL6A1):c.2275G>A (p.Val759Met)

rs373383488 
NM_001848.2(COL6A1):c.228140G>C

rs3746992 
NM_001848.2(COL6A1):c.22857G>A

rs79487056 
NM_001848.2(COL6A1):c.2285T>C (p.Phe762Ser)

rs886042688 
NM_001848.2(COL6A1):c.2298A>G (p.Ser766=)

rs761665024 
NM_001848.2(COL6A1):c.2304G>C (p.Gln768His)

rs376567898 
NM_001848.2(COL6A1):c.2309A>G (p.Asn770Ser)

rs886042972 
NM_001848.2(COL6A1):c.2349G>T (p.Arg783=)

rs373511343 
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=)

rs149910296 
NM_001848.2(COL6A1):c.2358C>T (p.Leu786=)

rs886042391 
NM_001848.2(COL6A1):c.2360C>T (p.Ser787Leu)

rs1203093809 
NM_001848.2(COL6A1):c.2413G>A (p.Val805Ile)

rs886043403 
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=)

rs760768642 
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His)

rs140547835 
NM_001848.2(COL6A1):c.2434+55G>A

rs2236487 
NM_001848.2(COL6A1):c.2434+5G>T

rs1360722232 
NM_001848.2(COL6A1):c.2434+88C>T

rs2236488 
NM_001848.2(COL6A1):c.24352A>G

rs940473416 
NM_001848.2(COL6A1):c.243536A>C

rs201427546 
NM_001848.2(COL6A1):c.243578G>A

rs76087328 
NM_001848.2(COL6A1):c.2442G>A (p.Lys814=)

rs1569519181 
NM_001848.2(COL6A1):c.2464+70C>G

rs2236489 
NM_001848.2(COL6A1):c.2464+9C>T

rs368651226 
NM_001848.2(COL6A1):c.246572C>T

rs59769541 
NM_001848.2(COL6A1):c.24657C>T

rs376196793 
NM_001848.2(COL6A1):c.2468C>T (p.Thr823Met)

rs749442445 
NM_001848.2(COL6A1):c.247A>G (p.Asn83Asp)

rs1556424177 
NM_001848.2(COL6A1):c.2507G>A (p.Gly836Asp)

rs794727582 
NM_001848.2(COL6A1):c.2512G>A (p.Ala838Thr)

rs529770550 
NM_001848.2(COL6A1):c.2553C>T (p.Phe851=)

rs370632963 
NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro)

rs748327110 
NM_001848.2(COL6A1):c.2561G>A (p.Arg854His)

rs200732314 
NM_001848.2(COL6A1):c.2585C>T (p.Ala862Val)

rs766944483 
NM_001848.2(COL6A1):c.2592G>A (p.Arg864=)

rs766279884 
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=)

rs367832752 
NM_001848.2(COL6A1):c.2595G>C (p.Thr865=)

rs367832752 
NM_001848.2(COL6A1):c.2601C>T (p.Pro867=)

rs200124802 
NM_001848.2(COL6A1):c.2607C>G (p.His869Gln)

rs777003143 
NM_001848.2(COL6A1):c.2610C>T (p.Asp870=)

rs759989949 
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.261C>T (p.Asn87=)

rs770671793 
NM_001848.2(COL6A1):c.2626G>A (p.Val876Met)

rs573185206 
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.2643G>A (p.Thr881=)

rs372725624 
NM_001848.2(COL6A1):c.2653C>T (p.Arg885Cys)

rs746298580 
NM_001848.2(COL6A1):c.2660A>G (p.Glu887Gly)

rs794727581 
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp)

rs368307185 
NM_001848.2(COL6A1):c.2670G>A (p.Ser890=)

rs527265374 
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=)

rs372931456 
NM_001848.2(COL6A1):c.2697C>A (p.Ala899=)

rs1569519211 
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=)

rs139018148 
NM_001848.2(COL6A1):c.2712C>T (p.Val904=)

rs780582491 
NM_001848.2(COL6A1):c.2713G>A (p.Asp905Asn)

rs149331149 
NM_001848.2(COL6A1):c.2733C>T (p.Asn911=)

rs144585693 
NM_001848.2(COL6A1):c.273G>A (p.Leu91=)

rs759821375 
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.2752G>A (p.Asp918Asn)

rs750512162 
NM_001848.2(COL6A1):c.2765A>G (p.Tyr922Cys)

rs886043011 
NM_001848.2(COL6A1):c.2783G>T (p.Arg928Leu)

rs144671871 
NM_001848.2(COL6A1):c.2785G>A (p.Glu929Lys)

rs145846228 
NM_001848.2(COL6A1):c.2789C>T (p.Ala930Val)

rs1226087945 
NM_001848.2(COL6A1):c.278A>T (p.Tyr93Phe)

rs1569517702 
NM_001848.2(COL6A1):c.2793G>A (p.Ser931=)

rs148561616 
NM_001848.2(COL6A1):c.2797G>A (p.Gly933Ser)

rs201835072 
NM_001848.2(COL6A1):c.2800G>A (p.Ala934Thr)

rs147716407 
NM_001848.2(COL6A1):c.2803G>A (p.Ala935Thr)

rs766416007 
NM_001848.2(COL6A1):c.2807_2809AGA[1] (p.Lys937del)

rs886043457 
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.2821C>T (p.Leu941Phe)

rs147882179 
NM_001848.2(COL6A1):c.2848G>A (p.Ala950Thr)

rs771844518 
NM_001848.2(COL6A1):c.2853G>A (p.Thr951=)

rs890068806 
NM_001848.2(COL6A1):c.2855C>T (p.Pro952Leu)

rs1225019573 
NM_001848.2(COL6A1):c.2856C>T (p.Pro952=)

rs140427635 
NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr)

rs150378645 
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.2873C>A (p.Ala958Asp)

rs763228065 
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.2890C>T (p.Arg964Trp)

rs375007666 
NM_001848.2(COL6A1):c.2891G>A (p.Arg964Gln)

rs794727580 
NM_001848.2(COL6A1):c.2899A>G (p.Ile967Val)

rs777671647 
NM_001848.2(COL6A1):c.2910C>T (p.Phe970=)

rs759623301 
NM_001848.2(COL6A1):c.2914G>A (p.Val972Met)

rs1223179643 
NM_001848.2(COL6A1):c.2915T>C (p.Val972Ala)

rs1131691418 
NM_001848.2(COL6A1):c.2920G>A (p.Val974Met)

rs751999785 
NM_001848.2(COL6A1):c.2953G>A (p.Val985Ile)

rs781394145 
NM_001848.2(COL6A1):c.2958G>C (p.Leu986=)

rs886057157 
NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln)

rs141663473 
NM_001848.2(COL6A1):c.2983G>A (p.Asp995Asn)

rs138673993 
NM_001848.2(COL6A1):c.2986G>A (p.Val996Met)

rs764765574 
NM_001848.2(COL6A1):c.2994C>T (p.Tyr998=)

rs148405880 
NM_001848.2(COL6A1):c.2998G>T (p.Glu1000Ter)

rs201456885 
NM_001848.2(COL6A1):c.3009G>A (p.Leu1003=)

rs886042992 
NM_001848.2(COL6A1):c.3034C>T (p.Leu1012=)

rs150509473 
NM_001848.2(COL6A1):c.3056A>G (p.Gln1019Arg)

rs751518356 
NM_001848.2(COL6A1):c.311C>T (p.Thr104Met)

rs781396484 
NM_001848.2(COL6A1):c.315_349del (p.Met106fs)

rs886043147 
NM_001848.2(COL6A1):c.325G>A (p.Gly109Ser)

rs368580280 
NM_001848.2(COL6A1):c.328C>G (p.Arg110Gly)

rs757632221 
NM_001848.2(COL6A1):c.329G>A (p.Arg110His)

rs773139115 
NM_001848.2(COL6A1):c.348C>T (p.Ser116=)

rs189444981 
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.352G>A (p.Asp118Asn)

rs747665716 
NM_001848.2(COL6A1):c.355G>A (p.Ala119Thr)

rs149392243 
NM_001848.2(COL6A1):c.356C>T (p.Ala119Val)

rs571641824 
NM_001848.2(COL6A1):c.357G>A (p.Ala119=)

rs747037863 
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg)

rs121912936 
NM_001848.2(COL6A1):c.366C>T (p.Tyr122=)

rs770744511 
NM_001848.2(COL6A1):c.376G>A (p.Gly126Ser)

rs886043738 
NM_001848.2(COL6A1):c.377G>T (p.Gly126Val)

rs1300015385 
NM_001848.2(COL6A1):c.379A>G (p.Thr127Ala)

rs886043850 
NM_001848.2(COL6A1):c.381C>T (p.Thr127=)

rs75180385 
NM_001848.2(COL6A1):c.388G>A (p.Asp130Asn)

rs1235398371 
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val)

rs139648899 
NM_001848.2(COL6A1):c.414G>A (p.Glu138=)

rs1556424277 
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.4298C>T

rs768951384 
NM_001848.2(COL6A1):c.434C>G (p.Ser145Cys)

rs781164042 
NM_001848.2(COL6A1):c.434C>T (p.Ser145Phe)

rs781164042 
NM_001848.2(COL6A1):c.519G>A (p.Glu173=)

rs146071423 
NM_001848.2(COL6A1):c.525T>A (p.Ala175=)

rs761552446 
NM_001848.2(COL6A1):c.531C>T (p.Asn177=)

rs767176038 
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg)

rs756141940 
NM_001848.2(COL6A1):c.541C>T (p.His181Tyr)

rs1556424938 
NM_001848.2(COL6A1):c.548G>A (p.Gly183Asp)

rs766184155 
NM_001848.2(COL6A1):c.549C>T (p.Gly183=)

rs398123636 
NM_001848.2(COL6A1):c.556G>C (p.Val186Leu)

rs886042409 
NM_001848.2(COL6A1):c.588+10G>A

rs890926408 
NM_001848.2(COL6A1):c.588+12_588+13insA

rs398123637 
NM_001848.2(COL6A1):c.588+37A>G

rs117470181 
NM_001848.2(COL6A1):c.588+8C>G

rs398123638 
NM_001848.2(COL6A1):c.58957G>A

rs138916267 
NM_001848.2(COL6A1):c.593C>T (p.Pro198Leu)

rs199867193 
NM_001848.2(COL6A1):c.595C>T (p.Arg199Cys)

rs749628937 
NM_001848.2(COL6A1):c.602G>C (p.Ser201Thr)

rs868198274 
NM_001848.2(COL6A1):c.607A>G (p.Ile203Val)

rs886044481 
NM_001848.2(COL6A1):c.609C>T (p.Ile203=)

rs369590506 
NM_001848.2(COL6A1):c.614C>T (p.Thr205Met)

rs1343618467 
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.628C>T (p.Arg210Trp)

rs950115468 
NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys)

rs375217284 
NM_001848.2(COL6A1):c.641C>T (p.Thr214Met)

rs369123247 
NM_001848.2(COL6A1):c.646G>T (p.Ala216Ser)

rs750465594 
NM_001848.2(COL6A1):c.665G>A (p.Arg222His)

rs780638665 
NM_001848.2(COL6A1):c.666C>T (p.Arg222=)

rs372581026 
NM_001848.2(COL6A1):c.667G>A (p.Asp223Asn)

rs199842980 
NM_001848.2(COL6A1):c.674A>T (p.Glu225Val)

rs886043858 
NM_001848.2(COL6A1):c.680C>T (p.Ala227Val)

rs770597799 
NM_001848.2(COL6A1):c.696C>T (p.Ile232=)

rs139148709 
NM_001848.2(COL6A1):c.69G>A (p.Pro23=)

rs149741299 
NM_001848.2(COL6A1):c.705C>T (p.Ile235=)

rs536786554 
NM_001848.2(COL6A1):c.717+4A>G

rs762867111 
NM_001848.2(COL6A1):c.717C>T (p.Ile239=)

rs775349013 
NM_001848.2(COL6A1):c.726C>T (p.Asn242=)

rs142102852 
NM_001848.2(COL6A1):c.738+14C>T

rs374896651 
NM_001848.2(COL6A1):c.738+8C>G

rs1556425058 
NM_001848.2(COL6A1):c.738G>A (p.Val246=)

rs1064797287 
NM_001848.2(COL6A1):c.73910C>G

rs886044087 
NM_001848.2(COL6A1):c.73951C>T

rs62215498 
NM_001848.2(COL6A1):c.7395C>T

rs369946755 
NM_001848.2(COL6A1):c.741C>A (p.Cys247Ter)

rs1057522053 
NM_001848.2(COL6A1):c.74C>A (p.Thr25Asn)

rs767205402 
NM_001848.2(COL6A1):c.750C>A (p.Phe250Leu)

rs748153811 
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys)

rs145849970 
NM_001848.2(COL6A1):c.763G>A (p.Ala255Thr)

rs145473829 
NM_001848.2(COL6A1):c.774_781TCCGGGGC[1] (p.Leu261fs)

rs886043354 
NM_001848.2(COL6A1):c.776C>T (p.Pro259Leu)

rs767905829 
NM_001848.2(COL6A1):c.780G>A (p.Gly260=)

rs143396975 
NM_001848.2(COL6A1):c.784C>T (p.Arg262Trp)

rs752259110 
NM_001848.2(COL6A1):c.788G>A (p.Gly263Asp)

rs886043351 
NM_001848.2(COL6A1):c.789C>T (p.Gly263=)

rs148364156 
NM_001848.2(COL6A1):c.790G>A (p.Asp264Asn)

rs530969007 
NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu)

rs757230924 
NM_001848.2(COL6A1):c.795C>T (p.Pro265=)

rs370641081 
NM_001848.2(COL6A1):c.8052A>G

rs398123639 
NM_001848.2(COL6A1):c.805G>A (p.Gly269Arg)

rs886042856 
NM_001848.2(COL6A1):c.811C>T (p.Arg271Ter)

rs1391624796 
NM_001848.2(COL6A1):c.813A>G (p.Arg271=)

rs748184568 
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser)

rs398123640 
NM_001848.2(COL6A1):c.815G>A (p.Gly272Asp)

rs1064793840 
NM_001848.2(COL6A1):c.822G>A (p.Pro274=)

rs886044503 
NM_001848.2(COL6A1):c.823G>C (p.Gly275Arg)

rs1556425467 
NM_001848.2(COL6A1):c.829C>T (p.Pro277Ser)

rs747542234 
NM_001848.2(COL6A1):c.833G>A (p.Gly278Glu)

rs886043106 
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg)

rs267606746 
NM_001848.2(COL6A1):c.842G>A (p.Gly281Glu)

rs886041383 
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del)

rs1556425474 
NM_001848.2(COL6A1):c.858+188G>C

rs2277813 
NM_001848.2(COL6A1):c.858+62C>T

rs8129814 
NM_001848.2(COL6A1):c.85918T>A

rs398123641 
NM_001848.2(COL6A1):c.8591G>C

rs1556425531 
NM_001848.2(COL6A1):c.85922A>G

rs398123642 
NM_001848.2(COL6A1):c.859G>A (p.Gly287Arg)

rs1057521152 
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg)

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

rs398123643 
NM_001848.2(COL6A1):c.896G>A (p.Gly299Glu)

rs398123644 
NM_001848.2(COL6A1):c.903+1G>T

rs1569518119 
NM_001848.2(COL6A1):c.903+3_903+7delinsCCTTC

rs886044204 
NM_001848.2(COL6A1):c.90410G>A

rs794727027 
NM_001848.2(COL6A1):c.9042A>G

rs1057519174 
NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg)

rs794727028 
NM_001848.2(COL6A1):c.904G>C (p.Gly302Arg)

rs794727028 
NM_001848.2(COL6A1):c.911A>G (p.Lys304Arg)

rs1064794736 
NM_001848.2(COL6A1):c.914G>A (p.Gly305Glu)

rs886042684 
NM_001848.2(COL6A1):c.928_930del (p.Lys310del)

rs886043114 
NM_001848.2(COL6A1):c.930+10G>A

rs772379034 
NM_001848.2(COL6A1):c.930+189C>T

rs1556425596 
NM_001848.2(COL6A1):c.930+1G>A

rs886042902 
NM_001848.2(COL6A1):c.9311G>A

rs886042354 
NM_001848.2(COL6A1):c.9311G>C

rs886042354 
NM_001848.2(COL6A1):c.9313C>A

rs747284546 
NM_001848.2(COL6A1):c.9315C>T

rs371841573 
NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp)

rs886044231 
NM_001848.2(COL6A1):c.941G>A (p.Gly314Glu)

rs1556425679 
NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg)

rs794727059 
NM_001848.2(COL6A1):c.957+1G>A

rs886044535 
NM_001848.2(COL6A1):c.957+2T>C

rs794727060 
NM_001848.2(COL6A1):c.957+6C>G

rs374926748 
NM_001848.2(COL6A1):c.957+6C>T

rs374926748 
NM_001848.2(COL6A1):c.957+7G>A

rs764488809 
NM_001848.2(COL6A1):c.957+7G>C

rs764488809 
NM_001848.2(COL6A1):c.957G>A (p.Lys319=)

rs1057520625 
NM_001848.2(COL6A1):c.957G>T (p.Lys319Asn)

rs1057520625 
NM_001848.2(COL6A1):c.957_957+7del

rs1556425687 
NM_001848.2(COL6A1):c.95810C>T

rs200508160 
NM_001848.2(COL6A1):c.9589G>A

rs375638855 
NM_001848.2(COL6A1):c.97+6T>G

rs1569517559 
NM_001848.2(COL6A1):c.974G>A (p.Arg325His)

rs1471278793 
NM_001848.2(COL6A1):c.98214C>T

rs62215496 
NM_001848.2(COL6A1):c.98320dup

rs72562356 
NM_001848.2(COL6A1):c.983C>G

rs1353609979 
NM_001848.2(COL6A1):c.986G>A

rs886042599 
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.9G>T (p.Ala3=)

rs369561233 
NM_001848.3(COL6A1):c.1002+8G>A

rs759134133 
NM_001848.3(COL6A1):c.100310C>G

rs182440627 
NM_001848.3(COL6A1):c.1056+1G>A

rs398123631 
NM_001848.3(COL6A1):c.1146G>A (p.Ala382=)

rs148492687 
NM_001848.3(COL6A1):c.1287G>A (p.Glu429=)

rs1326051791 
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)

rs376807461 
NM_001848.3(COL6A1):c.1377C>T (p.Pro459=)

rs750717663 
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=)

rs139987124 
NM_001848.3(COL6A1):c.16125T>C

rs371587579 
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=)

rs1603593356 
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=)

rs371878987 
NM_001848.3(COL6A1):c.1761_1764dup (p.Pro589fs)

rs1603593491 
NM_001848.3(COL6A1):c.1764G>A (p.Pro588=)

rs542688326 
NM_001848.3(COL6A1):c.1956+9T>C

rs1198845505 
NM_001848.3(COL6A1):c.1974G>A (p.Ser658=)

rs568596125 
NM_001848.3(COL6A1):c.2019C>T (p.His673=)

rs141424786 
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)

rs377455608 
NM_001848.3(COL6A1):c.2052G>T (p.Val684=)

rs1219591102 
NM_001848.3(COL6A1):c.2166C>A (p.Arg722=)

rs1603594361 
NM_001848.3(COL6A1):c.2220G>C (p.Pro740=)

rs138976133 
NM_001848.3(COL6A1):c.2250+9G>A

rs1342014969 
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=)

rs1603594564 
NM_001848.3(COL6A1):c.2434+15_2434+94del

rs1603594606 
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=)

rs1182297662 
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=)

rs569497612 
NM_001848.3(COL6A1):c.2565G>A (p.Leu855=)

rs1462765947 
NM_001848.3(COL6A1):c.2583A>T (p.Thr861=)

rs151306374 
NM_001848.3(COL6A1):c.2682G>A (p.Leu894=)

rs1166610252 
NM_001848.3(COL6A1):c.2847C>A (p.Gly949=)

rs575066401 
NM_001848.3(COL6A1):c.2964C>T (p.Thr988=)

rs769881364 
NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=)

rs369948305 
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)

rs11553519 
NM_001848.3(COL6A1):c.428+10C>T

rs1437662111 
NM_001848.3(COL6A1):c.428+5G>A

rs1603589628 
NM_001848.3(COL6A1):c.594G>A (p.Pro198=)

rs376592866 
NM_001848.3(COL6A1):c.594G>C (p.Pro198=)

rs376592866 
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)


NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)

rs201093313 
NM_001848.3(COL6A1):c.850G>A

rs121912938 
NM_001848.3(COL6A1):c.876C>T (p.Leu292=)

rs746362485 
NM_001848.3(COL6A1):c.924G>C (p.Gly308=)

rs374654116 
NM_001848.3(COL6A1):c.982_103del

rs1556423703 
NM_001848.3(COL6A1):c.9G>A (p.Ala3=)

rs369561233 