ClinVar Miner

List of variants in gene COL6A3 reported as likely benign for Bethlem myopathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1246
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396 0.00220
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998 0.00214
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) rs35524572 0.00122
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00096
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00076
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=) rs115401779 0.00076
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser) rs114549120 0.00071
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346 0.00058
NM_004369.4(COL6A3):c.5619C>T (p.His1873=) rs146355600 0.00051
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=) rs114338020 0.00046
NM_004369.4(COL6A3):c.5500+19A>G rs187794916 0.00045
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=) rs144249704 0.00044
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) rs111481402 0.00043
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=) rs148713779 0.00041
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser) rs145560772 0.00041
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=) rs78365682 0.00039
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) rs189772397 0.00038
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083 0.00037
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His) rs201314411 0.00036
NM_004369.4(COL6A3):c.8007C>T (p.His2669=) rs528369978 0.00035
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=) rs113422196 0.00033
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=) rs147537071 0.00031
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706 0.00031
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=) rs114684687 0.00031
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=) rs140441798 0.00030
NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=) rs116760648 0.00029
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380 0.00029
NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=) rs34390834 0.00029
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His) rs144054353 0.00029
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr) rs374267444 0.00028
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=) rs114144694 0.00028
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp) rs113360085 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=) rs375729592 0.00027
NM_004369.4(COL6A3):c.14G>A (p.Arg5Gln) rs765276422 0.00026
NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=) rs115973206 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=) rs143705718 0.00026
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=) rs756243022 0.00026
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=) rs115130936 0.00026
NM_004369.4(COL6A3):c.7092+20T>C rs115681406 0.00026
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) rs368800027 0.00025
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556 0.00024
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg) rs545819982 0.00024
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His) rs201888442 0.00024
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00022
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304 0.00021
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) rs376087730 0.00021
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met) rs144976132 0.00019
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=) rs114791158 0.00019
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=) rs149890179 0.00019
NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu) rs138109666 0.00018
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208 0.00017
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu) rs557448772 0.00017
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=) rs377572272 0.00017
NM_004369.4(COL6A3):c.8464+11C>T rs770508359 0.00017
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=) rs200111289 0.00017
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456 0.00017
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) rs115819851 0.00017
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185 0.00016
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186 0.00016
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455 0.00016
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr) rs151021451 0.00016
NM_004369.4(COL6A3):c.4630C>T (p.Leu1544=) rs1460616364 0.00016
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669 0.00016
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=) rs200285455 0.00015
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met) rs370719148 0.00014
NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His) rs115065877 0.00014
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr) rs372154635 0.00014
NM_004369.4(COL6A3):c.9045C>T (p.Pro3015=) rs144834964 0.00014
NM_004369.4(COL6A3):c.5501-4C>G rs143237699 0.00013
NM_004369.4(COL6A3):c.7175-11A>G rs373913396 0.00013
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser) rs369930821 0.00012
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) rs200098134 0.00012
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu) rs369449472 0.00012
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp) rs143074017 0.00012
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=) rs144592806 0.00012
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=) rs144612879 0.00011
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) rs116541926 0.00011
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg) rs773673162 0.00011
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile) rs369537287 0.00011
NM_004369.4(COL6A3):c.843G>T (p.Val281=) rs376201065 0.00011
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=) rs143006225 0.00011
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=) rs183247300 0.00011
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met) rs780353083 0.00010
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu) rs115881121 0.00010
NM_004369.4(COL6A3):c.186A>G (p.Leu62=) rs773733833 0.00010
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863 0.00010
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 0.00010
NM_004369.4(COL6A3):c.3992G>A (p.Arg1331His) rs751772951 0.00010
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val) rs778808432 0.00010
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=) rs202086524 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu) rs113896755 0.00010
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu) rs376021820 0.00010
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=) rs145586177 0.00009
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His) rs199601240 0.00009
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg) rs755587601 0.00009
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00009
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys) rs563530370 0.00009
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn) rs763162762 0.00009
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952 0.00009
NM_004369.4(COL6A3):c.5501-17G>A rs200723656 0.00009
NM_004369.4(COL6A3):c.552G>A (p.Ala184=) rs542204130 0.00009
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His) rs368379003 0.00009
NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met) rs143389941 0.00009
NM_004369.4(COL6A3):c.5679G>A (p.Thr1893=) rs149151423 0.00009
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp) rs201938007 0.00009
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695 0.00009
NM_004369.4(COL6A3):c.6157-4T>G rs536696110 0.00009
NM_004369.4(COL6A3):c.6211-13T>C rs751001881 0.00009
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590 0.00009
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=) rs768794876 0.00009
NM_004369.4(COL6A3):c.8022C>T (p.Ser2674=) rs149403952 0.00009
NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=) rs138683303 0.00009
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn) rs115729513 0.00009
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928 0.00008
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu) rs572969883 0.00008
NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile) rs751459281 0.00008
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=) rs369620378 0.00008
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282 0.00008
NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=) rs148877230 0.00008
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=) rs368711215 0.00008
NM_004369.4(COL6A3):c.6627+18C>A rs778048349 0.00008
NM_004369.4(COL6A3):c.7266A>C (p.Arg2422=) rs778691629 0.00008
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn) rs747588645 0.00008
NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=) rs571287679 0.00008
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His) rs776329513 0.00007
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=) rs141280228 0.00007
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile) rs111584250 0.00007
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His) rs112172548 0.00007
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe) rs779028054 0.00007
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu) rs140863092 0.00007
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His) rs149838946 0.00007
NM_004369.4(COL6A3):c.4494G>A (p.Pro1498=) rs374885393 0.00007
NM_004369.4(COL6A3):c.5136A>G (p.Lys1712=) rs748590690 0.00007
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=) rs550085228 0.00007
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln) rs777496872 0.00007
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln) rs149330325 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004369.4(COL6A3):c.2523C>T (p.Leu841=) rs142876356 0.00006
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His) rs147897225 0.00006
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=) rs550122375 0.00006
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) rs114492689 0.00006
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys) rs114852262 0.00006
NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=) rs111328076 0.00006
NM_004369.4(COL6A3):c.3679+17T>G rs553819631 0.00006
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=) rs193265138 0.00006
NM_004369.4(COL6A3):c.4048G>A (p.Asp1350Asn) rs752977410 0.00006
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu) rs147701785 0.00006
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=) rs764225803 0.00006
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=) rs147215386 0.00006
NM_004369.4(COL6A3):c.4900+10G>A rs189411873 0.00006
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542 0.00006
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443 0.00006
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln) rs374825188 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe) rs768564642 0.00006
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=) rs115591088 0.00006
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) rs145581705 0.00006
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser) rs748491825 0.00006
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=) rs751580746 0.00006
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315 0.00006
NM_004369.4(COL6A3):c.1312+7A>G rs949869773 0.00005
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His) rs111295967 0.00005
NM_004369.4(COL6A3):c.2695A>G (p.Ile899Val) rs372114508 0.00005
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val) rs202185764 0.00005
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=) rs768233315 0.00005
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=) rs373719229 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr) rs201722265 0.00005
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser) rs112540218 0.00005
NM_004369.4(COL6A3):c.5696A>G (p.Glu1899Gly) rs768711436 0.00005
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys) rs113251155 0.00005
NM_004369.4(COL6A3):c.6355-4G>T rs755204422 0.00005
NM_004369.4(COL6A3):c.6408+16C>T rs531635518 0.00005
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=) rs149697986 0.00005
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala) rs111927395 0.00005
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=) rs369335838 0.00005
NM_004369.4(COL6A3):c.7668+16G>A rs746169209 0.00005
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=) rs758582935 0.00005
NM_004369.4(COL6A3):c.8373C>T (p.Asn2791=) rs770214487 0.00005
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490 0.00005
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly) rs537189097 0.00005
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly) rs199680718 0.00005
NM_004369.4(COL6A3):c.966C>T (p.Ile322=) rs369160080 0.00005
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=) rs775821966 0.00004
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser) rs200250810 0.00004
NM_004369.4(COL6A3):c.1830C>T (p.Ala610=) rs756709812 0.00004
NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr) rs372255458 0.00004
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508 0.00004
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met) rs762162177 0.00004
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259 0.00004
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser) rs150008830 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004369.4(COL6A3):c.2529C>T (p.Asp843=) rs556079869 0.00004
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu) rs369814614 0.00004
NM_004369.4(COL6A3):c.2634T>C (p.Ala878=) rs760857131 0.00004
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=) rs749992393 0.00004
NM_004369.4(COL6A3):c.2748G>C (p.Leu916=) rs1347948544 0.00004
NM_004369.4(COL6A3):c.285G>A (p.Thr95=) rs373435541 0.00004
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=) rs774059985 0.00004
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu) rs775536678 0.00004
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys) rs774406266 0.00004
NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=) rs777242754 0.00004
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His) rs200860322 0.00004
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=) rs368285658 0.00004
NM_004369.4(COL6A3):c.3463G>A (p.Val1155Met) rs774764179 0.00004
NM_004369.4(COL6A3):c.354T>G (p.Thr118=) rs751592191 0.00004
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg) rs150548221 0.00004
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=) rs763648429 0.00004
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=) rs776983763 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=) rs761804539 0.00004
NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met) rs368928992 0.00004
NM_004369.4(COL6A3):c.4285+13C>T rs368338594 0.00004
NM_004369.4(COL6A3):c.4431C>T (p.Val1477=) rs151289203 0.00004
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met) rs374493032 0.00004
NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys) rs752225290 0.00004
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=) rs199759398 0.00004
NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His) rs368151192 0.00004
NM_004369.4(COL6A3):c.4836G>A (p.Ser1612=) rs766930229 0.00004
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=) rs200948078 0.00004
NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser) rs192930227 0.00004
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=) rs140699766 0.00004
NM_004369.4(COL6A3):c.5277A>G (p.Ala1759=) rs567112070 0.00004
NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=) rs760201640 0.00004
NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val) rs772890888 0.00004
NM_004369.4(COL6A3):c.5388G>A (p.Ala1796=) rs116565519 0.00004
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His) rs371441617 0.00004
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=) rs114357878 0.00004
NM_004369.4(COL6A3):c.5500+15G>A rs372876170 0.00004
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=) rs751159969 0.00004
NM_004369.4(COL6A3):c.5681C>T (p.Pro1894Leu) rs376002858 0.00004
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu) rs370806359 0.00004
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg) rs554219567 0.00004
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=) rs375668409 0.00004
NM_004369.4(COL6A3):c.6218G>A (p.Arg2073His) rs185047948 0.00004
NM_004369.4(COL6A3):c.625A>G (p.Ile209Val) rs751370730 0.00004
NM_004369.4(COL6A3):c.6354+18A>C rs774579188 0.00004
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala) rs540633944 0.00004
NM_004369.4(COL6A3):c.6471+20C>T rs370407313 0.00004
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=) rs374952003 0.00004
NM_004369.4(COL6A3):c.6879+15C>T rs368631950 0.00004
NM_004369.4(COL6A3):c.6912A>G (p.Glu2304=) rs746697715 0.00004
NM_004369.4(COL6A3):c.6931-6T>C rs376338674 0.00004
NM_004369.4(COL6A3):c.6967-15C>T rs112451272 0.00004
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala) rs201467603 0.00004
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=) rs570963533 0.00004
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338 0.00004
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln) rs115863049 0.00004
NM_004369.4(COL6A3):c.7746C>T (p.Leu2582=) rs751294512 0.00004
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met) rs140021275 0.00004
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr) rs776220123 0.00004
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala) rs767471920 0.00004
NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly) rs772602377 0.00004
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=) rs113754336 0.00004
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr) rs746608405 0.00004
NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser) rs756294311 0.00004
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=) rs754977455 0.00004
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=) rs375442243 0.00004
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile) rs374628435 0.00004
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=) rs765101399 0.00004
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=) rs748814297 0.00004
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys) rs759280111 0.00003
NM_004369.4(COL6A3):c.1506T>C (p.His502=) rs770990749 0.00003
NM_004369.4(COL6A3):c.1566C>A (p.Ala522=) rs771948237 0.00003
NM_004369.4(COL6A3):c.1614G>A (p.Thr538=) rs535142787 0.00003
NM_004369.4(COL6A3):c.1636G>A (p.Ala546Thr) rs150377792 0.00003
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) rs114278376 0.00003
NM_004369.4(COL6A3):c.1898-5T>C rs373563217 0.00003
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys) rs368161217 0.00003
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser) rs748641277 0.00003
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His) rs529827991 0.00003
NM_004369.4(COL6A3):c.2497+9C>A rs774198344 0.00003
NM_004369.4(COL6A3):c.249C>T (p.Phe83=) rs758434537 0.00003
NM_004369.4(COL6A3):c.252C>T (p.Asn84=) rs765786832 0.00003
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=) rs367991818 0.00003
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser) rs762584015 0.00003
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921 0.00003
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu) rs75071027 0.00003
NM_004369.4(COL6A3):c.3654G>A (p.Pro1218=) rs778039312 0.00003
NM_004369.4(COL6A3):c.3680-18C>G rs528379574 0.00003
NM_004369.4(COL6A3):c.3861C>T (p.Asn1287=) rs113247852 0.00003
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr) rs761799119 0.00003
NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=) rs777277026 0.00003
NM_004369.4(COL6A3):c.3933C>T (p.Asn1311=) rs763164666 0.00003
NM_004369.4(COL6A3):c.4007T>C (p.Val1336Ala) rs760059705 0.00003
NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg) rs755091615 0.00003
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=) rs142938239 0.00003
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=) rs528204718 0.00003
NM_004369.4(COL6A3):c.4285+14G>A rs373893821 0.00003
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=) rs751433682 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_004369.4(COL6A3):c.438C>T (p.Ile146=) rs781449958 0.00003
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile) rs536452909 0.00003
NM_004369.4(COL6A3):c.4402A>G (p.Ile1468Val) rs759366102 0.00003
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val) rs111389165 0.00003
NM_004369.4(COL6A3):c.4866T>A (p.Pro1622=) rs773082911 0.00003
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=) rs140516220 0.00003
NM_004369.4(COL6A3):c.5112C>T (p.Asp1704=) rs759756382 0.00003
NM_004369.4(COL6A3):c.5349G>A (p.Ser1783=) rs752102793 0.00003
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys) rs886043180 0.00003
NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=) rs751915461 0.00003
NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=) rs752905591 0.00003
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln) rs780489910 0.00003
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=) rs762950440 0.00003
NM_004369.4(COL6A3):c.6157-17C>T rs199764618 0.00003
NM_004369.4(COL6A3):c.624C>T (p.Asp208=) rs757316338 0.00003
NM_004369.4(COL6A3):c.6282+7C>T rs779630783 0.00003
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928 0.00003
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=) rs199869924 0.00003
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=) rs765837100 0.00003
NM_004369.4(COL6A3):c.6675G>A (p.Gly2225=) rs538533719 0.00003
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met) rs141586922 0.00003
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=) rs762210213 0.00003
NM_004369.4(COL6A3):c.7356C>T (p.Asn2452=) rs569662223 0.00003
NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile) rs527516269 0.00003
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=) rs749750613 0.00003
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn) rs755138368 0.00003
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870 0.00003
NM_004369.4(COL6A3):c.774C>T (p.Phe258=) rs766589204 0.00003
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val) rs777305410 0.00003
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn) rs765014790 0.00003
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr) rs398124135 0.00003
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028 0.00003
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln) rs115116398 0.00003
NM_004369.4(COL6A3):c.8464+20G>C rs398124136 0.00003
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met) rs779335085 0.00003
NM_004369.4(COL6A3):c.8637G>C (p.Thr2879=) rs1417532835 0.00003
NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile) rs765812583 0.00003
NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser) rs992204564 0.00003
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=) rs199936838 0.00003
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=) rs113721676 0.00003
NM_004369.4(COL6A3):c.91+16G>A rs747662761 0.00003
NM_004369.4(COL6A3):c.936C>T (p.Leu312=) rs377629176 0.00003
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=) rs548519047 0.00002
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=) rs376912950 0.00002
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln) rs781231935 0.00002
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=) rs373281009 0.00002
NM_004369.4(COL6A3):c.1575G>A (p.Thr525=) rs749452623 0.00002
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile) rs757748748 0.00002
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=) rs763426415 0.00002
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=) rs776665419 0.00002
NM_004369.4(COL6A3):c.1897+11G>A rs780688368 0.00002
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=) rs988504831 0.00002
NM_004369.4(COL6A3):c.2059C>T (p.Pro687Ser) rs750291186 0.00002
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg) rs760976593 0.00002
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=) rs561804945 0.00002
NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr) rs765006452 0.00002
NM_004369.4(COL6A3):c.237T>C (p.Ala79=) rs747312241 0.00002
NM_004369.4(COL6A3):c.267C>T (p.Thr89=) rs757243408 0.00002
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val) rs115327470 0.00002
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=) rs115874872 0.00002
NM_004369.4(COL6A3):c.2907G>A (p.Val969=) rs772894785 0.00002
NM_004369.4(COL6A3):c.2958C>T (p.Ile986=) rs145203676 0.00002
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro) rs758482171 0.00002
NM_004369.4(COL6A3):c.3001A>G (p.Lys1001Glu) rs977976932 0.00002
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn) rs760543147 0.00002
NM_004369.4(COL6A3):c.3219C>T (p.Ser1073=) rs747436841 0.00002
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=) rs886042997 0.00002
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=) rs1434102843 0.00002
NM_004369.4(COL6A3):c.3627C>A (p.Thr1209=) rs1230310524 0.00002
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) rs542411896 0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) rs541703064 0.00002
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=) rs114110705 0.00002
NM_004369.4(COL6A3):c.3891C>T (p.Asn1297=) rs200722316 0.00002
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln) rs774461787 0.00002
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=) rs371075249 0.00002
NM_004369.4(COL6A3):c.453T>G (p.Asp151Glu) rs759004319 0.00002
NM_004369.4(COL6A3):c.462G>A (p.Ser154=) rs773051161 0.00002
NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala) rs150972216 0.00002
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn) rs904372024 0.00002
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=) rs766291321 0.00002
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met) rs768420468 0.00002
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=) rs398124123 0.00002
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=) rs770825082 0.00002
NM_004369.4(COL6A3):c.5868C>T (p.Asp1956=) rs777508994 0.00002
NM_004369.4(COL6A3):c.5909G>A (p.Arg1970His) rs368635334 0.00002
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=) rs771602562 0.00002
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=) rs748005373 0.00002
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser) rs115320113 0.00002
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His) rs750063736 0.00002
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His) rs142090771 0.00002
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=) rs886043269 0.00002
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr) rs750889657 0.00002
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=) rs560225578 0.00002
NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys) rs753307921 0.00002
NM_004369.4(COL6A3):c.6759C>T (p.Ser2253=) rs375134458 0.00002
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=) rs777752945 0.00002
NM_004369.4(COL6A3):c.6966+19G>T rs369486630 0.00002
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys) rs557578629 0.00002
NM_004369.4(COL6A3):c.7037C>T (p.Ser2346Leu) rs377168716 0.00002
NM_004369.4(COL6A3):c.7122C>T (p.Ile2374=) rs747377101 0.00002
NM_004369.4(COL6A3):c.7323G>A (p.Arg2441=) rs1255913973 0.00002
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=) rs1439207088 0.00002
NM_004369.4(COL6A3):c.7476G>A (p.Ser2492=) rs150815991 0.00002
NM_004369.4(COL6A3):c.7491C>T (p.Asn2497=) rs751097250 0.00002
NM_004369.4(COL6A3):c.760G>A (p.Gly254Arg) rs571172347 0.00002
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe) rs755107410 0.00002
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=) rs113423040 0.00002
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala) rs749169391 0.00002
NM_004369.4(COL6A3):c.8464+12G>A rs199707923 0.00002
NM_004369.4(COL6A3):c.8511T>C (p.Asp2837=) rs936115881 0.00002
NM_004369.4(COL6A3):c.8583C>T (p.Asn2861=) rs375994186 0.00002
NM_004369.4(COL6A3):c.8646G>A (p.Pro2882=) rs751922269 0.00002
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val) rs757146083 0.00002
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743 0.00002
NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile) rs776043658 0.00002
NM_004369.4(COL6A3):c.8966-20C>T rs557787842 0.00002
NM_004369.4(COL6A3):c.92-12C>G rs759990390 0.00002
NM_004369.4(COL6A3):c.9329-8T>C rs770436782 0.00002
NM_004369.4(COL6A3):c.972C>T (p.Leu324=) rs761334907 0.00002
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln) rs745667305 0.00001
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His) rs140510298 0.00001
NM_004369.4(COL6A3):c.1023C>T (p.Arg341=) rs779564611 0.00001
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn) rs1416475329 0.00001
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg) rs200795795 0.00001
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val) rs572020866 0.00001
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=) rs762463347 0.00001
NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg) rs778069171 0.00001
NM_004369.4(COL6A3):c.1149C>T (p.Ala383=) rs139016980 0.00001
NM_004369.4(COL6A3):c.1152C>A (p.Ala384=) rs1207676038 0.00001
NM_004369.4(COL6A3):c.117T>C (p.Asp39=) rs1574757082 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.1356C>T (p.Gly452=) rs761005162 0.00001
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val) rs377757978 0.00001
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp) rs752738273 0.00001
NM_004369.4(COL6A3):c.1415T>C (p.Ile472Thr) rs757316442 0.00001
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg) rs777693832 0.00001
NM_004369.4(COL6A3):c.1563G>A (p.Ser521=) rs773149146 0.00001
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=) rs200205650 0.00001
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser) rs756045079 0.00001
NM_004369.4(COL6A3):c.1727G>A (p.Ser576Asn) rs1291470412 0.00001
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=) rs774234847 0.00001
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=) rs138036318 0.00001
NM_004369.4(COL6A3):c.1833C>T (p.Ala611=) rs368242683 0.00001
NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp) rs111379417 0.00001
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr) rs777409908 0.00001
NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn) rs753557181 0.00001
NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=) rs970623100 0.00001
NM_004369.4(COL6A3):c.2133C>T (p.Leu711=) rs1166349776 0.00001
NM_004369.4(COL6A3):c.2148C>T (p.Gly716=) rs1204913393 0.00001
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=) rs368826874 0.00001
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg) rs762752112 0.00001
NM_004369.4(COL6A3):c.2307G>A (p.Ala769=) rs780578768 0.00001
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr) rs756337970 0.00001
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val) rs116753562 0.00001
NM_004369.4(COL6A3):c.2352A>G (p.Ala784=) rs759099641 0.00001
NM_004369.4(COL6A3):c.2376C>T (p.Asn792=) rs1038000360 0.00001
NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu) rs374774989 0.00001
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=) rs752530417 0.00001
NM_004369.4(COL6A3):c.2505G>A (p.Lys835=) rs892390706 0.00001
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe) rs1455744375 0.00001
NM_004369.4(COL6A3):c.2589C>T (p.Ile863=) rs376409920 0.00001
NM_004369.4(COL6A3):c.2601T>C (p.Asn867=) rs764115723 0.00001
NM_004369.4(COL6A3):c.2628G>A (p.Ala876=) rs919417658 0.00001
NM_004369.4(COL6A3):c.262C>T (p.His88Tyr) rs773999183 0.00001
NM_004369.4(COL6A3):c.2796T>C (p.Ala932=) rs1158876557 0.00001
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=) rs116256579 0.00001
NM_004369.4(COL6A3):c.2830C>T (p.Leu944=) rs886470638 0.00001
NM_004369.4(COL6A3):c.2847A>G (p.Ala949=) rs746610835 0.00001
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met) rs769697782 0.00001
NM_004369.4(COL6A3):c.290G>A (p.Arg97His) rs201249839 0.00001
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr) rs768292803 0.00001
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met) rs140437593 0.00001
NM_004369.4(COL6A3):c.2973G>A (p.Ala991=) rs541545591 0.00001
NM_004369.4(COL6A3):c.3012T>C (p.Asp1004=) rs745661734 0.00001
NM_004369.4(COL6A3):c.3070+4T>C rs201456189 0.00001
NM_004369.4(COL6A3):c.3071-21_3071-18dup rs1321741683 0.00001
NM_004369.4(COL6A3):c.3071-7C>G rs370229367 0.00001
NM_004369.4(COL6A3):c.3117C>T (p.Gly1039=) rs922629653 0.00001
NM_004369.4(COL6A3):c.3126C>T (p.Ser1042=) rs372619164 0.00001
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=) rs200621867 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=) rs777909478 0.00001
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr) rs369460632 0.00001
NM_004369.4(COL6A3):c.3414C>T (p.Val1138=) rs1022815311 0.00001
NM_004369.4(COL6A3):c.345C>A (p.Thr115=) rs371958092 0.00001
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=) rs762152367 0.00001
NM_004369.4(COL6A3):c.3470G>T (p.Arg1157Met) rs727502838 0.00001
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=) rs199998363 0.00001
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu) rs762240306 0.00001
NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=) rs757349824 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004369.4(COL6A3):c.3714C>T (p.Ile1238=) rs150911180 0.00001
NM_004369.4(COL6A3):c.3738T>C (p.Pro1246=) rs927612906 0.00001
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp) rs781735632 0.00001
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=) rs886042792 0.00001
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu) rs886043888 0.00001
NM_004369.4(COL6A3):c.3989G>C (p.Ser1330Thr) rs779967310 0.00001
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile) rs1220087503 0.00001
NM_004369.4(COL6A3):c.4031C>T (p.Ser1344Leu) rs777759049 0.00001
NM_004369.4(COL6A3):c.4059C>T (p.Asp1353=) rs765355858 0.00001
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=) rs766856187 0.00001
NM_004369.4(COL6A3):c.4068G>A (p.Ala1356=) rs772443916 0.00001
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys) rs762544728 0.00001
NM_004369.4(COL6A3):c.4085T>A (p.Phe1362Tyr) rs745420792 0.00001
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp) rs143819673 0.00001
NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=) rs777649526 0.00001
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln) rs779126378 0.00001
NM_004369.4(COL6A3):c.413C>T (p.Ala138Val) rs1167973119 0.00001
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu) rs767829363 0.00001
NM_004369.4(COL6A3):c.420C>T (p.Asp140=) rs909857244 0.00001
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg) rs398124120 0.00001
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=) rs565366400 0.00001
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln) rs539986030 0.00001
NM_004369.4(COL6A3):c.4263C>T (p.Ala1421=) rs748103971 0.00001
NM_004369.4(COL6A3):c.4270C>T (p.Arg1424Cys) rs768522226 0.00001
NM_004369.4(COL6A3):c.4285+7T>C rs781660921 0.00001
NM_004369.4(COL6A3):c.4286-4G>A rs779028717 0.00001
NM_004369.4(COL6A3):c.4318C>G (p.Leu1440Val) rs1335664006 0.00001
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=) rs747160916 0.00001
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=) rs779603740 0.00001
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val) rs114736729 0.00001
NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=) rs558665283 0.00001
NM_004369.4(COL6A3):c.4497G>A (p.Val1499=) rs749820906 0.00001
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys) rs778816180 0.00001
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His) rs754840728 0.00001
NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=) rs755902927 0.00001
NM_004369.4(COL6A3):c.4561G>A (p.Glu1521Lys) rs113538665 0.00001
NM_004369.4(COL6A3):c.4599G>A (p.Gly1533=) rs778335651 0.00001
NM_004369.4(COL6A3):c.4617G>A (p.Gly1539=) rs1420997887 0.00001
NM_004369.4(COL6A3):c.465G>A (p.Lys155=) rs771817420 0.00001
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys) rs200825417 0.00001
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp) rs773979979 0.00001
NM_004369.4(COL6A3):c.4734C>T (p.Ile1578=) rs774809714 0.00001
NM_004369.4(COL6A3):c.4774C>A (p.Leu1592Met) rs1211026126 0.00001
NM_004369.4(COL6A3):c.482C>T (p.Pro161Leu) rs1190967394 0.00001
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu) rs201532239 0.00001
NM_004369.4(COL6A3):c.4842A>G (p.Gly1614=) rs199531763 0.00001
NM_004369.4(COL6A3):c.486A>G (p.Ser162=) rs1477252497 0.00001
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn) rs149261556 0.00001
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=) rs750374768 0.00001
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=) rs767560639 0.00001
NM_004369.4(COL6A3):c.5127G>A (p.Val1709=) rs747509514 0.00001
NM_004369.4(COL6A3):c.5162T>C (p.Val1721Ala) rs752418797 0.00001
NM_004369.4(COL6A3):c.5163G>A (p.Val1721=) rs759703082 0.00001
NM_004369.4(COL6A3):c.522A>G (p.Ala174=) rs1477904627 0.00001
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg) rs756781502 0.00001
NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu) rs777266074 0.00001
NM_004369.4(COL6A3):c.5348C>T (p.Ser1783Leu) rs1271500443 0.00001
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg) rs1375661246 0.00001
NM_004369.4(COL6A3):c.5457G>A (p.Ala1819=) rs377249790 0.00001
NM_004369.4(COL6A3):c.5501-9C>A rs1426149492 0.00001
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser) rs148488423 0.00001
NM_004369.4(COL6A3):c.5574C>T (p.Phe1858=) rs114259747 0.00001
NM_004369.4(COL6A3):c.5641C>T (p.Arg1881Cys) rs772269570 0.00001
NM_004369.4(COL6A3):c.5646G>A (p.Ser1882=) rs886055807 0.00001
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=) rs886055807 0.00001
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=) rs886044430 0.00001
NM_004369.4(COL6A3):c.5718C>T (p.Tyr1906=) rs200999503 0.00001
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu) rs563800854 0.00001
NM_004369.4(COL6A3):c.5770G>A (p.Val1924Ile) rs778162038 0.00001
NM_004369.4(COL6A3):c.5775C>T (p.Leu1925=) rs764231408 0.00001
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=) rs555406717 0.00001
NM_004369.4(COL6A3):c.5811C>T (p.Phe1937=) rs771317034 0.00001
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=) rs113283088 0.00001
NM_004369.4(COL6A3):c.5832C>T (p.Ser1944=) rs2077534219 0.00001
NM_004369.4(COL6A3):c.5838+7G>C rs369931091 0.00001
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=) rs727503884 0.00001
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr) rs376548186 0.00001
NM_004369.4(COL6A3):c.6064-4G>A rs762819140 0.00001
NM_004369.4(COL6A3):c.6129C>T (p.Arg2043=) rs576524993 0.00001
NM_004369.4(COL6A3):c.6156+16C>T rs779455691 0.00001
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=) rs1172901266 0.00001
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=) rs777351827 0.00001
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=) rs777097924 0.00001
NM_004369.4(COL6A3):c.6264G>A (p.Pro2088=) rs1156803322 0.00001
NM_004369.4(COL6A3):c.6282+9T>C rs1038994935 0.00001
NM_004369.4(COL6A3):c.630A>G (p.Val210=) rs914512334 0.00001
NM_004369.4(COL6A3):c.6354+16C>T rs1314468175 0.00001
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=) rs894679602 0.00001
NM_004369.4(COL6A3):c.6471+8T>C rs747540355 0.00001
NM_004369.4(COL6A3):c.6472-13A>G rs1156922421 0.00001
NM_004369.4(COL6A3):c.64A>G (p.Thr22Ala) rs774784273 0.00001
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=) rs776493521 0.00001
NM_004369.4(COL6A3):c.6691-8T>G rs1308697483 0.00001
NM_004369.4(COL6A3):c.6754-9C>G rs886038542 0.00001
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr) rs745877985 0.00001
NM_004369.4(COL6A3):c.6861G>A (p.Arg2287=) rs551512561 0.00001
NM_004369.4(COL6A3):c.6879+16G>A rs915585400 0.00001
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=) rs764508785 0.00001
NM_004369.4(COL6A3):c.6966+10C>G rs995436631 0.00001
NM_004369.4(COL6A3):c.6978T>C (p.Gly2326=) rs755565292 0.00001
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=) rs773164702 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=) rs376714139 0.00001
NM_004369.4(COL6A3):c.7188C>T (p.Cys2396=) rs1383762763 0.00001
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr) rs1559271365 0.00001
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser) rs749446863 0.00001
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=) rs749075993 0.00001
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=) rs750552221 0.00001
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln) rs753090057 0.00001
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=) rs778474394 0.00001
NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=) rs752232293 0.00001
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val) rs770214397 0.00001
NM_004369.4(COL6A3):c.7668+18G>A rs1234167823 0.00001
NM_004369.4(COL6A3):c.7713G>A (p.Gly2571=) rs756140209 0.00001
NM_004369.4(COL6A3):c.7766-14A>C rs745793481 0.00001
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=) rs535306425 0.00001
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=) rs145136426 0.00001
NM_004369.4(COL6A3):c.807T>C (p.Leu269=) rs776357610 0.00001
NM_004369.4(COL6A3):c.810G>T (p.Glu270Asp) rs964222724 0.00001
NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val) rs1311630536 0.00001
NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys) rs368129741 0.00001
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=) rs769124771 0.00001
NM_004369.4(COL6A3):c.8337C>T (p.Asn2779=) rs1338421880 0.00001
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=) rs772967228 0.00001
NM_004369.4(COL6A3):c.837C>T (p.Ile279=) rs772888162 0.00001
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=) rs201460305 0.00001
NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=) rs572018781 0.00001
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys) rs775200499 0.00001
NM_004369.4(COL6A3):c.8465-20T>C rs746788651 0.00001
NM_004369.4(COL6A3):c.8478T>C (p.Phe2826=) rs748250269 0.00001
NM_004369.4(COL6A3):c.8568-9T>C rs1369507012 0.00001
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met) rs759009226 0.00001
NM_004369.4(COL6A3):c.8622G>A (p.Thr2874=) rs766330730 0.00001
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=) rs768887961 0.00001
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr) rs377528704 0.00001
NM_004369.4(COL6A3):c.8895C>A (p.Thr2965=) rs114008087 0.00001
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala) rs758363294 0.00001
NM_004369.4(COL6A3):c.8907C>T (p.Val2969=) rs201605617 0.00001
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val) rs557120711 0.00001
NM_004369.4(COL6A3):c.8977C>T (p.Arg2993Cys) rs148318789 0.00001
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly) rs747642083 0.00001
NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile) rs769756403 0.00001
NM_004369.4(COL6A3):c.907G>T (p.Ala303Ser) rs1162064854 0.00001
NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met) rs754218170 0.00001
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys) rs368568929 0.00001
NM_004369.4(COL6A3):c.920G>A (p.Gly307Asp) rs149412478 0.00001
NM_004369.4(COL6A3):c.922G>A (p.Ala308Thr) rs779867515 0.00001
NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe) rs112455407 0.00001
NM_004369.4(COL6A3):c.9328+8G>T rs770383420 0.00001
NM_004369.4(COL6A3):c.9329-4A>T rs199800564 0.00001
NM_004369.4(COL6A3):c.976C>G (p.Leu326Val) rs773786663 0.00001
NM_004369.4(COL6A3):c.984C>T (p.Phe328=) rs768609958 0.00001
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu) rs140510298
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=) rs886044010
NM_004369.4(COL6A3):c.108G>A (p.Ala36=) rs374055173
NM_004369.4(COL6A3):c.108G>T (p.Ala36=) rs374055173
NM_004369.4(COL6A3):c.1095G>C (p.Gly365=) rs535498742
NM_004369.4(COL6A3):c.1103C>T (p.Ala368Val)
NM_004369.4(COL6A3):c.1104A>C (p.Ala368=)
NM_004369.4(COL6A3):c.1107G>A (p.Leu369=) rs2106378535
NM_004369.4(COL6A3):c.1119C>T (p.Ser373=)
NM_004369.4(COL6A3):c.1185T>C (p.Asp395=)
NM_004369.4(COL6A3):c.118A>G (p.Ile40Val)
NM_004369.4(COL6A3):c.1197G>A (p.Val399=)
NM_004369.4(COL6A3):c.11A>G (p.His4Arg)
NM_004369.4(COL6A3):c.11A>T (p.His4Leu) rs777465480
NM_004369.4(COL6A3):c.1209G>A (p.Pro403=)
NM_004369.4(COL6A3):c.1212A>G (p.Glu404=)
NM_004369.4(COL6A3):c.1227G>A (p.Gly409=)
NM_004369.4(COL6A3):c.1243T>C (p.Leu415=)
NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu)
NM_004369.4(COL6A3):c.1251G>A (p.Pro417=) rs1162933726
NM_004369.4(COL6A3):c.1279A>G (p.Ile427Val)
NM_004369.4(COL6A3):c.1293G>T (p.Pro431=)
NM_004369.4(COL6A3):c.1312+12C>A rs915562937
NM_004369.4(COL6A3):c.1312+12C>G
NM_004369.4(COL6A3):c.1312+19C>G
NM_004369.4(COL6A3):c.1323C>T (p.Val441=)
NM_004369.4(COL6A3):c.1335C>T (p.Asp445=)
NM_004369.4(COL6A3):c.1344C>T (p.Phe448=) rs2106370423
NM_004369.4(COL6A3):c.1347G>A (p.Leu449=)
NM_004369.4(COL6A3):c.1350G>A (p.Val450=) rs886043010
NM_004369.4(COL6A3):c.1372C>T (p.Leu458=)
NM_004369.4(COL6A3):c.141T>C (p.Ser47=) rs2078403487
NM_004369.4(COL6A3):c.1452G>T (p.Val484=) rs1574726196
NM_004369.4(COL6A3):c.1455A>T (p.Ala485=)
NM_004369.4(COL6A3):c.1494T>C (p.Tyr498=)
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=) rs199969722
NM_004369.4(COL6A3):c.1512A>T (p.Thr504=) rs199969722
NM_004369.4(COL6A3):c.1521A>G (p.Glu507=) rs1259919285
NM_004369.4(COL6A3):c.1531G>A (p.Ala511Thr)
NM_004369.4(COL6A3):c.1533T>C (p.Ala511=) rs2106370154
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp) rs369379463
NM_004369.4(COL6A3):c.1551C>G (p.Pro517=) rs764955459
NM_004369.4(COL6A3):c.1560C>T (p.Gly520=) rs2106370096
NM_004369.4(COL6A3):c.1587A>T (p.Leu529=) rs574912582
NM_004369.4(COL6A3):c.159A>G (p.Glu53=) rs1259558140
NM_004369.4(COL6A3):c.1616G>C (p.Ser539Thr)
NM_004369.4(COL6A3):c.1624G>C (p.Gly542Arg)
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe)
NM_004369.4(COL6A3):c.1656T>G (p.Leu552=) rs141939225
NM_004369.4(COL6A3):c.1665G>T (p.Leu555=)
NM_004369.4(COL6A3):c.1689T>C (p.Asp563=) rs1256532267
NM_004369.4(COL6A3):c.1785C>G (p.Ile595Met) rs114278376
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu) rs76576170
NM_004369.4(COL6A3):c.1825C>A (p.Arg609=)
NM_004369.4(COL6A3):c.182T>C (p.Phe61Ser) rs375649083
NM_004369.4(COL6A3):c.1830C>A (p.Ala610=) rs756709812
NM_004369.4(COL6A3):c.1833C>A (p.Ala611=)
NM_004369.4(COL6A3):c.1839G>A (p.Leu613=)
NM_004369.4(COL6A3):c.184C>T (p.Leu62=)
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)
NM_004369.4(COL6A3):c.1897+16C>G
NM_004369.4(COL6A3):c.1898-10T>C rs573663410
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile) rs149187225
NM_004369.4(COL6A3):c.1962T>C (p.Asn654=) rs1574721263
NM_004369.4(COL6A3):c.2047T>C (p.Phe683Leu)
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=) rs767818130
NM_004369.4(COL6A3):c.2067G>A (p.Thr689=) rs1372723004
NM_004369.4(COL6A3):c.211G>A (p.Val71Met)
NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp)
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.2145G>C (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser) rs113393241
NM_004369.4(COL6A3):c.2184C>T (p.Ala728=)
NM_004369.4(COL6A3):c.2193C>T (p.Phe731=)
NM_004369.4(COL6A3):c.2217C>A (p.Ile739=)
NM_004369.4(COL6A3):c.2226C>T (p.His742=) rs376627571
NM_004369.4(COL6A3):c.2227G>A (p.Val743Met)
NM_004369.4(COL6A3):c.2241G>A (p.Leu747=) rs766815447
NM_004369.4(COL6A3):c.2262G>A (p.Gln754=)
NM_004369.4(COL6A3):c.2276A>G (p.Tyr759Cys)
NM_004369.4(COL6A3):c.2289C>T (p.Ala763=)
NM_004369.4(COL6A3):c.2293G>A (p.Ala765Thr)
NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala)
NM_004369.4(COL6A3):c.2304C>T (p.Arg768=)
NM_004369.4(COL6A3):c.2316G>A (p.Leu772=) rs2077920362
NM_004369.4(COL6A3):c.231T>C (p.His77=)
NM_004369.4(COL6A3):c.2395A>G (p.Met799Val) rs1559257612
NM_004369.4(COL6A3):c.2412C>T (p.Ser804=)
NM_004369.4(COL6A3):c.2457T>C (p.Tyr819=) rs2106366549
NM_004369.4(COL6A3):c.2493G>A (p.Gln831=) rs988131438
NM_004369.4(COL6A3):c.2497+17G>T
NM_004369.4(COL6A3):c.2497+7C>A rs2077913887
NM_004369.4(COL6A3):c.2497+8T>C rs2106366476
NM_004369.4(COL6A3):c.2497+9C>T rs774198344
NM_004369.4(COL6A3):c.2498-15del
NM_004369.4(COL6A3):c.2517G>A (p.Leu839=) rs187237497
NM_004369.4(COL6A3):c.2517G>C (p.Leu839=)
NM_004369.4(COL6A3):c.2595G>A (p.Glu865=)
NM_004369.4(COL6A3):c.2604G>A (p.Val868=)
NM_004369.4(COL6A3):c.2612A>G (p.Glu871Gly)
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=) rs1559255553
NM_004369.4(COL6A3):c.2688G>A (p.Lys896=) rs2106364617
NM_004369.4(COL6A3):c.2724C>G (p.Ile908Met)
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.4(COL6A3):c.2739C>A (p.Ala913=)
NM_004369.4(COL6A3):c.2739C>T (p.Ala913=)
NM_004369.4(COL6A3):c.2751C>T (p.Gly917=)
NM_004369.4(COL6A3):c.2766T>C (p.Tyr922=)
NM_004369.4(COL6A3):c.2790G>A (p.Lys930=)
NM_004369.4(COL6A3):c.2794G>C (p.Ala932Pro)
NM_004369.4(COL6A3):c.2808C>A (p.Ile936=) rs116256579
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys) rs774872934
NM_004369.4(COL6A3):c.2826G>A (p.Gln942=)
NM_004369.4(COL6A3):c.2835G>A (p.Val945=)
NM_004369.4(COL6A3):c.2844C>T (p.Val948=)
NM_004369.4(COL6A3):c.2862C>T (p.Asp954=)
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu) rs763515820
NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu)
NM_004369.4(COL6A3):c.2980C>T (p.Leu994=)
NM_004369.4(COL6A3):c.3021A>T (p.Pro1007=)
NM_004369.4(COL6A3):c.3042A>G (p.Lys1014=) rs915245460
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=) rs886042836
NM_004369.4(COL6A3):c.3071-11C>T
NM_004369.4(COL6A3):c.3071-13G>C
NM_004369.4(COL6A3):c.3071-6T>C
NM_004369.4(COL6A3):c.3071-7C>T rs370229367
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=) rs2077798088
NM_004369.4(COL6A3):c.3108C>T (p.Gly1036=)
NM_004369.4(COL6A3):c.3135T>G (p.Pro1045=) rs2106361675
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=) rs780402445
NM_004369.4(COL6A3):c.3162G>A (p.Val1054=)
NM_004369.4(COL6A3):c.3165G>A (p.Val1055=)
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
NM_004369.4(COL6A3):c.3189C>T (p.Asp1063=)
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=) rs201962257
NM_004369.4(COL6A3):c.3231G>A (p.Arg1077=)
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys) rs762778512
NM_004369.4(COL6A3):c.3252A>G (p.Ser1084=)
NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=)
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=) rs200562443
NM_004369.4(COL6A3):c.3312G>A (p.Pro1104=)
NM_004369.4(COL6A3):c.3320A>T (p.Asn1107Ile)
NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=)
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
NM_004369.4(COL6A3):c.3372G>A (p.Ala1124=) rs772443564
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val) rs372844024
NM_004369.4(COL6A3):c.3387A>T (p.Thr1129=)
NM_004369.4(COL6A3):c.33C>T (p.Ala11=) rs761011715
NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=)
NM_004369.4(COL6A3):c.3483G>T (p.Val1161=)
NM_004369.4(COL6A3):c.3495T>A (p.Ile1165=)
NM_004369.4(COL6A3):c.3498C>A (p.Gly1166=) rs1553560457
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.3542T>G (p.Ile1181Ser) rs920105033
NM_004369.4(COL6A3):c.3543C>T (p.Ile1181=)
NM_004369.4(COL6A3):c.3582G>A (p.Leu1194=)
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile) rs748053172
NM_004369.4(COL6A3):c.3600C>T (p.Val1200=) rs768543487
NM_004369.4(COL6A3):c.3605C>A (p.Ser1202Tyr) rs2106360836
NM_004369.4(COL6A3):c.3651G>A (p.Gln1217=) rs115065877
NM_004369.4(COL6A3):c.3666T>C (p.Pro1222=)
NM_004369.4(COL6A3):c.3672G>A (p.Pro1224=) rs547052866
NM_004369.4(COL6A3):c.3679+10G>A
NM_004369.4(COL6A3):c.3679+13C>T
NM_004369.4(COL6A3):c.3679+14T>G
NM_004369.4(COL6A3):c.3679+17_3679+18del rs759774701
NM_004369.4(COL6A3):c.3679+9G>A
NM_004369.4(COL6A3):c.3680-18C>T
NM_004369.4(COL6A3):c.3720G>A (p.Gly1240=)
NM_004369.4(COL6A3):c.3741G>A (p.Glu1247=) rs577927810
NM_004369.4(COL6A3):c.3747G>C (p.Gln1249His)
NM_004369.4(COL6A3):c.3751G>T (p.Val1251Phe) rs199646208
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=) rs886055808
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.384C>T (p.Ser128=)
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.4(COL6A3):c.3885G>A (p.Val1295=) rs2077708134
NM_004369.4(COL6A3):c.3909G>A (p.Arg1303=)
NM_004369.4(COL6A3):c.3945C>T (p.Ala1315=) rs2106357314
NM_004369.4(COL6A3):c.3981C>A (p.Pro1327=) rs2106357258
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.4011G>T (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=)
NM_004369.4(COL6A3):c.4056G>A (p.Val1352=)
NM_004369.4(COL6A3):c.4060G>A (p.Asp1354Asn)
NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=)
NM_004369.4(COL6A3):c.4095C>G (p.Ala1365=) rs2106357035
NM_004369.4(COL6A3):c.4110C>T (p.Ala1370=) rs1553559241
NM_004369.4(COL6A3):c.4113G>A (p.Arg1371=)
NM_004369.4(COL6A3):c.4122C>T (p.Asp1374=) rs2106356973
NM_004369.4(COL6A3):c.4149G>A (p.Leu1383=)
NM_004369.4(COL6A3):c.4152C>T (p.Ser1384=) rs2077697254
NM_004369.4(COL6A3):c.4164G>A (p.Val1388=)
NM_004369.4(COL6A3):c.4188G>A (p.Glu1396=) rs2077695533
NM_004369.4(COL6A3):c.4218G>A (p.Thr1406=)
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=) rs759052298
NM_004369.4(COL6A3):c.4255C>T (p.Leu1419Phe)
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
NM_004369.4(COL6A3):c.4285+12G>T rs1295105927
NM_004369.4(COL6A3):c.4285+16C>T
NM_004369.4(COL6A3):c.4290T>C (p.Val1430=) rs2077626622
NM_004369.4(COL6A3):c.4311T>G (p.Ile1437Met) rs2646260
NM_004369.4(COL6A3):c.4314C>T (p.Val1438=)
NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=)
NM_004369.4(COL6A3):c.4389T>G (p.Val1463=) rs2106353277
NM_004369.4(COL6A3):c.4391G>A (p.Arg1464Gln)
NM_004369.4(COL6A3):c.4407C>A (p.Gly1469=)
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala) rs1216842831
NM_004369.4(COL6A3):c.4470G>A (p.Leu1490=)
NM_004369.4(COL6A3):c.4476C>G (p.Thr1492=)
NM_004369.4(COL6A3):c.4488G>A (p.Gln1496=) rs369543806
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.4(COL6A3):c.4521G>A (p.Arg1507=)
NM_004369.4(COL6A3):c.4534T>A (p.Ser1512Thr) rs1553557796
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=) rs1574695218
NM_004369.4(COL6A3):c.4548T>C (p.Thr1516=) rs2106352992
NM_004369.4(COL6A3):c.4581C>T (p.Leu1527=) rs1223820832
NM_004369.4(COL6A3):c.45C>G (p.Leu15=)
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
NM_004369.4(COL6A3):c.462G>T (p.Ser154=)
NM_004369.4(COL6A3):c.4635C>T (p.Val1545=)
NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=) rs1017491163
NM_004369.4(COL6A3):c.4647T>A (p.Gly1549=)
NM_004369.4(COL6A3):c.4668G>A (p.Val1556=)
NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=)
NM_004369.4(COL6A3):c.4749G>A (p.Leu1583=)
NM_004369.4(COL6A3):c.4767C>T (p.Asp1589=)
NM_004369.4(COL6A3):c.4776G>T (p.Leu1592=) rs2077611451
NM_004369.4(COL6A3):c.483C>T (p.Pro161=) rs2106388145
NM_004369.4(COL6A3):c.4863A>T (p.Ala1621=)
NM_004369.4(COL6A3):c.4900+9C>A rs117345850
NM_004369.4(COL6A3):c.4901-9C>G
NM_004369.4(COL6A3):c.4929G>C (p.Leu1643=)
NM_004369.4(COL6A3):c.4944C>A (p.Ile1648=)
NM_004369.4(COL6A3):c.4974G>T (p.Val1658=)
NM_004369.4(COL6A3):c.498G>A (p.Lys166=) rs2106388118
NM_004369.4(COL6A3):c.5004A>C (p.Thr1668=)
NM_004369.4(COL6A3):c.5019C>A (p.Gly1673=)
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=) rs370475865
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val) rs147231661
NM_004369.4(COL6A3):c.5148C>T (p.His1716=) rs114845780
NM_004369.4(COL6A3):c.5163G>T (p.Val1721=)
NM_004369.4(COL6A3):c.516G>A (p.Val172=) rs2106388091
NM_004369.4(COL6A3):c.5172G>A (p.Glu1724=)
NM_004369.4(COL6A3):c.5214C>T (p.Arg1738=)
NM_004369.4(COL6A3):c.5224C>A (p.Arg1742=) rs578249894
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp) rs578249894
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_004369.4(COL6A3):c.534G>C (p.Glu178Asp) rs1375292407
NM_004369.4(COL6A3):c.5373C>T (p.Ser1791=)
NM_004369.4(COL6A3):c.5412G>A (p.Glu1804=)
NM_004369.4(COL6A3):c.5415G>A (p.Leu1805=)
NM_004369.4(COL6A3):c.5433A>G (p.Gln1811=) rs2106350355
NM_004369.4(COL6A3):c.5456C>T (p.Ala1819Val) rs764242694
NM_004369.4(COL6A3):c.5500+14T>A
NM_004369.4(COL6A3):c.5500+17G>T
NM_004369.4(COL6A3):c.5500+20T>C rs2077560317
NM_004369.4(COL6A3):c.5500+8C>G rs2077560922
NM_004369.4(COL6A3):c.5501-16C>A
NM_004369.4(COL6A3):c.5501-17G>T rs200723656
NM_004369.4(COL6A3):c.5501-7T>G
NM_004369.4(COL6A3):c.5550T>C (p.Asn1850=)
NM_004369.4(COL6A3):c.5568G>A (p.Lys1856=) rs2106349387
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu) rs368943871
NM_004369.4(COL6A3):c.5649C>T (p.Pro1883=) rs886044430
NM_004369.4(COL6A3):c.5653G>A (p.Val1885Met)
NM_004369.4(COL6A3):c.565G>A (p.Ala189Thr)
NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=)
NM_004369.4(COL6A3):c.5691G>A (p.Pro1897=)
NM_004369.4(COL6A3):c.56G>A (p.Gly19Asp)
NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=)
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His) rs139230842
NM_004369.4(COL6A3):c.575C>G (p.Pro192Arg)
NM_004369.4(COL6A3):c.576G>A (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=)
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.5839-9T>C rs745307761
NM_004369.4(COL6A3):c.5844C>T (p.Val1948=) rs2106347308
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
NM_004369.4(COL6A3):c.5895A>T (p.Ala1965=)
NM_004369.4(COL6A3):c.5918-11T>C
NM_004369.4(COL6A3):c.5918-17T>C rs2106346191
NM_004369.4(COL6A3):c.5918-7T>G rs1004578583
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
NM_004369.4(COL6A3):c.595A>C (p.Asn199His)
NM_004369.4(COL6A3):c.5964G>A (p.Leu1988=)
NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=)
NM_004369.4(COL6A3):c.5997G>A (p.Gly1999=) rs372028656
NM_004369.4(COL6A3):c.6063+13T>A
NM_004369.4(COL6A3):c.6063+14A>T rs1242577749
NM_004369.4(COL6A3):c.6063+14_6063+15insG rs2106345949
NM_004369.4(COL6A3):c.6064-11C>T
NM_004369.4(COL6A3):c.6064-16C>A
NM_004369.4(COL6A3):c.6064-6C>G rs202091342
NM_004369.4(COL6A3):c.6064-7T>G
NM_004369.4(COL6A3):c.6064-8T>G rs2106344303
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=) rs886044237
NM_004369.4(COL6A3):c.610A>T (p.Thr204Ser)
NM_004369.4(COL6A3):c.6147C>T (p.Ile2049=)
NM_004369.4(COL6A3):c.6157-16G>C
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=) rs1574978545
NM_004369.4(COL6A3):c.6210+13T>C
NM_004369.4(COL6A3):c.6210+15T>C rs2106343420
NM_004369.4(COL6A3):c.6211-17T>G
NM_004369.4(COL6A3):c.6213T>C (p.Gly2071=)
NM_004369.4(COL6A3):c.626T>C (p.Ile209Thr)
NM_004369.4(COL6A3):c.6282+20G>A
NM_004369.4(COL6A3):c.6282+8G>A
NM_004369.4(COL6A3):c.6354+12T>A
NM_004369.4(COL6A3):c.6355-10T>C
NM_004369.4(COL6A3):c.6408+17G>A
NM_004369.4(COL6A3):c.6409-13G>A
NM_004369.4(COL6A3):c.6409-19A>G
NM_004369.4(COL6A3):c.6409-8T>C rs2106340546
NM_004369.4(COL6A3):c.6441A>G (p.Glu2147=)
NM_004369.4(COL6A3):c.6450T>C (p.Asp2150=)
NM_004369.4(COL6A3):c.6466G>C (p.Asp2156His) rs1483242059
NM_004369.4(COL6A3):c.6471+17T>C
NM_004369.4(COL6A3):c.6472-15C>T
NM_004369.4(COL6A3):c.6472-7C>G
NM_004369.4(COL6A3):c.6531C>T (p.Gly2177=)
NM_004369.4(COL6A3):c.6537+15A>G
NM_004369.4(COL6A3):c.6538-12T>C
NM_004369.4(COL6A3):c.6538-13T>C rs754557027
NM_004369.4(COL6A3):c.6538-20G>C
NM_004369.4(COL6A3):c.6538-5A>C rs1574971750
NM_004369.4(COL6A3):c.6585G>A (p.Gly2195=) rs1172324866
NM_004369.4(COL6A3):c.6588G>A (p.Lys2196=)
NM_004369.4(COL6A3):c.6591+15G>T
NM_004369.4(COL6A3):c.6591+7G>A
NM_004369.4(COL6A3):c.6592-11T>C
NM_004369.4(COL6A3):c.6592-19_6592-10del rs2077285974
NM_004369.4(COL6A3):c.6592-8T>C rs994267675
NM_004369.4(COL6A3):c.6597C>T (p.Gly2199=)
NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln)
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr) rs748768672
NM_004369.4(COL6A3):c.661G>A (p.Val221Met) rs765527121
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser) rs398124129
NM_004369.4(COL6A3):c.6627+15G>A
NM_004369.4(COL6A3):c.6627+19C>A
NM_004369.4(COL6A3):c.6627+9C>T
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=) rs765837100
NM_004369.4(COL6A3):c.6654G>T (p.Pro2218=) rs147537071
NM_004369.4(COL6A3):c.6666A>G (p.Gly2222=)
NM_004369.4(COL6A3):c.6675G>T (p.Gly2225=) rs538533719
NM_004369.4(COL6A3):c.6690+11C>T
NM_004369.4(COL6A3):c.6690+12C>T
NM_004369.4(COL6A3):c.6690+13G>A
NM_004369.4(COL6A3):c.6691-10C>T
NM_004369.4(COL6A3):c.6691-16T>G rs1211086568
NM_004369.4(COL6A3):c.669A>C (p.Pro223=)
NM_004369.4(COL6A3):c.669A>G (p.Pro223=) rs1246288754
NM_004369.4(COL6A3):c.6717A>G (p.Pro2239=)
NM_004369.4(COL6A3):c.6753+15A>G
NM_004369.4(COL6A3):c.6754-12C>T rs2077199421
NM_004369.4(COL6A3):c.6754-15C>T
NM_004369.4(COL6A3):c.6754-18C>G
NM_004369.4(COL6A3):c.6754-18C>T
NM_004369.4(COL6A3):c.6754-20T>C
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=) rs116541926
NM_004369.4(COL6A3):c.6807G>C (p.Leu2269=)
NM_004369.4(COL6A3):c.6810A>C (p.Gly2270=)
NM_004369.4(COL6A3):c.6816+8T>G
NM_004369.4(COL6A3):c.6817-5T>C rs794727464
NM_004369.4(COL6A3):c.6817-6G>A rs886042773
NM_004369.4(COL6A3):c.6817-9C>G
NM_004369.4(COL6A3):c.684C>T (p.Asp228=) rs771393722
NM_004369.4(COL6A3):c.6855G>A (p.Gly2285=) rs3790993
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His) rs398124131
NM_004369.4(COL6A3):c.6879+13C>T rs754120322
NM_004369.4(COL6A3):c.6879+14G>T
NM_004369.4(COL6A3):c.6879+16G>T
NM_004369.4(COL6A3):c.6879+18T>C
NM_004369.4(COL6A3):c.687G>A (p.Thr229=)
NM_004369.4(COL6A3):c.6880-20C>A
NM_004369.4(COL6A3):c.6880-6T>C rs1023123323
NM_004369.4(COL6A3):c.6880-7C>A
NM_004369.4(COL6A3):c.6880-8A>G rs377004585
NM_004369.4(COL6A3):c.6885T>C (p.Asp2295=)
NM_004369.4(COL6A3):c.6903T>C (p.Val2301=)
NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=)
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
NM_004369.4(COL6A3):c.6930+6dup
NM_004369.4(COL6A3):c.6931-19A>G
NM_004369.4(COL6A3):c.6931-19A>T rs771629624
NM_004369.4(COL6A3):c.6962C>A (p.Pro2321Gln) rs1207239805
NM_004369.4(COL6A3):c.6966+11C>T
NM_004369.4(COL6A3):c.6966+18G>A
NM_004369.4(COL6A3):c.6966+9T>A
NM_004369.4(COL6A3):c.6967-10T>C rs777986767
NM_004369.4(COL6A3):c.6967-18T>A
NM_004369.4(COL6A3):c.7017C>A (p.Ile2339=)
NM_004369.4(COL6A3):c.7029+11G>A
NM_004369.4(COL6A3):c.7029+13_7029+44del
NM_004369.4(COL6A3):c.7029+19T>C
NM_004369.4(COL6A3):c.7030-20G>A
NM_004369.4(COL6A3):c.7030-4C>G rs886042395
NM_004369.4(COL6A3):c.7047A>C (p.Pro2349=) rs1574951790
NM_004369.4(COL6A3):c.705C>A (p.Ile235=)
NM_004369.4(COL6A3):c.705C>T (p.Ile235=) rs993297723
NM_004369.4(COL6A3):c.709+11C>G
NM_004369.4(COL6A3):c.709+12G>A
NM_004369.4(COL6A3):c.709+13C>T
NM_004369.4(COL6A3):c.709+16C>T
NM_004369.4(COL6A3):c.709+18A>C
NM_004369.4(COL6A3):c.709+18A>G
NM_004369.4(COL6A3):c.709+9A>C
NM_004369.4(COL6A3):c.7092+16G>C
NM_004369.4(COL6A3):c.7093-15T>C
NM_004369.4(COL6A3):c.7093-17G>A
NM_004369.4(COL6A3):c.7093-18C>T
NM_004369.4(COL6A3):c.7093-9G>T rs2106325624
NM_004369.4(COL6A3):c.710-6_710-5dup
NM_004369.4(COL6A3):c.7101G>A (p.Lys2367=) rs775666497
NM_004369.4(COL6A3):c.7107C>T (p.Asn2369=) rs1410340783
NM_004369.4(COL6A3):c.7125+11T>C
NM_004369.4(COL6A3):c.7125+12G>A
NM_004369.4(COL6A3):c.7125+15T>C
NM_004369.4(COL6A3):c.7125+19G>C
NM_004369.4(COL6A3):c.7126-12T>C
NM_004369.4(COL6A3):c.7162+11G>A rs540897134
NM_004369.4(COL6A3):c.7175-6C>G rs199723531
NM_004369.4(COL6A3):c.7175-6C>T
NM_004369.4(COL6A3):c.7185G>A (p.Glu2395=)
NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=)
NM_004369.4(COL6A3):c.7212C>T (p.Ala2404=) rs1162382032
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala) rs1339553173
NM_004369.4(COL6A3):c.7314C>G (p.Asn2438Lys)
NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=) rs2106325082
NM_004369.4(COL6A3):c.7328C>T (p.Ala2443Val) rs555176397
NM_004369.4(COL6A3):c.7356C>G (p.Asn2452Lys) rs569662223
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala) rs757349865
NM_004369.4(COL6A3):c.7407C>T (p.Leu2469=) rs2106324946
NM_004369.4(COL6A3):c.7440G>A (p.Leu2480=)
NM_004369.4(COL6A3):c.7446C>T (p.Ser2482=)
NM_004369.4(COL6A3):c.7515A>T (p.Gly2505=)
NM_004369.4(COL6A3):c.7560A>G (p.Thr2520=)
NM_004369.4(COL6A3):c.7581A>G (p.Arg2527=) rs765129895
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)
NM_004369.4(COL6A3):c.7608G>T (p.Ala2536=) rs749750613
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=) rs151079701
NM_004369.4(COL6A3):c.7650G>A (p.Gln2550=)
NM_004369.4(COL6A3):c.7669-15T>C
NM_004369.4(COL6A3):c.7669-16C>T
NM_004369.4(COL6A3):c.7673A>G (p.Asn2558Ser)
NM_004369.4(COL6A3):c.7689G>A (p.Gly2563=) rs1033018695
NM_004369.4(COL6A3):c.771T>C (p.Asn257=)
NM_004369.4(COL6A3):c.7765+15T>C rs777263519
NM_004369.4(COL6A3):c.7766-13T>C rs2076980060
NM_004369.4(COL6A3):c.7766-14A>G
NM_004369.4(COL6A3):c.7766-20G>A
NM_004369.4(COL6A3):c.7770C>T (p.Ile2590=) rs1574940988
NM_004369.4(COL6A3):c.7780G>A (p.Asp2594Asn)
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly) rs984056484
NM_004369.4(COL6A3):c.7825A>C (p.Arg2609=)
NM_004369.4(COL6A3):c.7833G>T (p.Ala2611=) rs535306425
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn) rs145884404
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)
NM_004369.4(COL6A3):c.7848G>A (p.Val2616=)
NM_004369.4(COL6A3):c.7851C>T (p.Asp2617=) rs1235022762
NM_004369.4(COL6A3):c.7854C>T (p.Ile2618=)
NM_004369.4(COL6A3):c.7896G>C (p.Leu2632=) rs1378457056
NM_004369.4(COL6A3):c.7911G>A (p.Glu2637=)
NM_004369.4(COL6A3):c.7917G>A (p.Lys2639=)
NM_004369.4(COL6A3):c.7926A>T (p.Ile2642=) rs2076975766
NM_004369.4(COL6A3):c.7929G>T (p.Ala2643=)
NM_004369.4(COL6A3):c.792C>T (p.Phe264=) rs2106379168
NM_004369.4(COL6A3):c.7960G>A (p.Asp2654Asn)
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168
NM_004369.4(COL6A3):c.7995A>T (p.Ala2665=) rs80193928
NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=)
NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu) rs761740861
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln) rs886055803
NM_004369.4(COL6A3):c.8055G>T (p.Val2685=)
NM_004369.4(COL6A3):c.8082C>A (p.Ser2694=)
NM_004369.4(COL6A3):c.8088G>A (p.Glu2696=)
NM_004369.4(COL6A3):c.8091G>A (p.Lys2697=) rs775318733
NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=)
NM_004369.4(COL6A3):c.8148C>A (p.Gly2716=)
NM_004369.4(COL6A3):c.8163C>T (p.Tyr2721=)
NM_004369.4(COL6A3):c.816C>T (p.Leu272=)
NM_004369.4(COL6A3):c.819A>G (p.Pro273=) rs2106379131
NM_004369.4(COL6A3):c.81G>A (p.Gln27=)
NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=) rs2106319581
NM_004369.4(COL6A3):c.821T>C (p.Ile274Thr)
NM_004369.4(COL6A3):c.8221C>T (p.Leu2741=)
NM_004369.4(COL6A3):c.8235C>A (p.Gly2745=)
NM_004369.4(COL6A3):c.8235C>T (p.Gly2745=) rs534728020
NM_004369.4(COL6A3):c.8310G>C (p.Val2770=) rs766217603
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=) rs1453228535
NM_004369.4(COL6A3):c.8349A>G (p.Val2783=)
NM_004369.4(COL6A3):c.8359G>T (p.Ala2787Ser) rs763395740
NM_004369.4(COL6A3):c.837C>A (p.Ile279=)
NM_004369.4(COL6A3):c.8394G>C (p.Val2798=) rs780134165
NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln) rs370246962
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)
NM_004369.4(COL6A3):c.8421G>A (p.Glu2807=) rs753264980
NM_004369.4(COL6A3):c.8460C>T (p.Val2820=)
NM_004369.4(COL6A3):c.8464+7C>T
NM_004369.4(COL6A3):c.8465-18T>C rs1318549888
NM_004369.4(COL6A3):c.8465-7T>A rs1574936670
NM_004369.4(COL6A3):c.8465-9T>C
NM_004369.4(COL6A3):c.8490A>G (p.Pro2830=)
NM_004369.4(COL6A3):c.8567+20G>A
NM_004369.4(COL6A3):c.8568-10G>T
NM_004369.4(COL6A3):c.8568-12T>A
NM_004369.4(COL6A3):c.8571T>C (p.Asn2857=)
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)
NM_004369.4(COL6A3):c.8592A>G (p.Ser2864=)
NM_004369.4(COL6A3):c.8598T>C (p.Pro2866=)
NM_004369.4(COL6A3):c.861C>T (p.Ser287=) rs756380512
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
NM_004369.4(COL6A3):c.8634T>A (p.Thr2878=) rs768887961
NM_004369.4(COL6A3):c.8640G>A (p.Thr2880=)
NM_004369.4(COL6A3):c.8640G>C (p.Thr2880=) rs746309230
NM_004369.4(COL6A3):c.8667T>C (p.Pro2889=)
NM_004369.4(COL6A3):c.8670A>G (p.Val2890=) rs551264358
NM_004369.4(COL6A3):c.8676C>T (p.Thr2892=)
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=) rs770062985
NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)
NM_004369.4(COL6A3):c.8754G>A (p.Val2918=) rs1332418093
NM_004369.4(COL6A3):c.877A>G (p.Met293Val)
NM_004369.4(COL6A3):c.8780_8781delinsCT (p.Met2927Thr) rs2106314441
NM_004369.4(COL6A3):c.8780_8781inv (p.Met2927Thr)
NM_004369.4(COL6A3):c.8784C>T (p.Ala2928=)
NM_004369.4(COL6A3):c.8799A>G (p.Pro2933=) rs139811166
NM_004369.4(COL6A3):c.8847A>G (p.Pro2949=)
NM_004369.4(COL6A3):c.8862C>T (p.Pro2954=) rs2106314283
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del) rs757584445
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr) rs773820329
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=) rs147324162
NM_004369.4(COL6A3):c.8892G>C (p.Ala2964=) rs147324162
NM_004369.4(COL6A3):c.8895C>T (p.Thr2965=) rs114008087
NM_004369.4(COL6A3):c.8920G>A (p.Ala2974Thr) rs727502837
NM_004369.4(COL6A3):c.8955T>C (p.Thr2985=)
NM_004369.4(COL6A3):c.8966-11C>A
NM_004369.4(COL6A3):c.8966-13A>G
NM_004369.4(COL6A3):c.8966-19G>A
NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys)
NM_004369.4(COL6A3):c.8977C>G (p.Arg2993Gly)
NM_004369.4(COL6A3):c.8985C>G (p.Val2995=) rs2106312595
NM_004369.4(COL6A3):c.8997G>A (p.Glu2999=) rs2106312577
NM_004369.4(COL6A3):c.9045C>G (p.Pro3015=)
NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg)
NM_004369.4(COL6A3):c.9051T>A (p.Pro3017=) rs1574928802
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=) rs147327623
NM_004369.4(COL6A3):c.909C>T (p.Ala303=)
NM_004369.4(COL6A3):c.91+15C>A rs117521066
NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys)
NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=)
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile) rs564041158
NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys)
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=) rs1253951128
NM_004369.4(COL6A3):c.92-19C>A
NM_004369.4(COL6A3):c.92-19C>G
NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=) rs1363089686
NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg)
NM_004369.4(COL6A3):c.9230-19A>G
NM_004369.4(COL6A3):c.9230-20del
NM_004369.4(COL6A3):c.9230-4A>G rs1559190144
NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=) rs77368269
NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=) rs957608376
NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=)
NM_004369.4(COL6A3):c.9328+8G>A
NM_004369.4(COL6A3):c.9329-18C>A
NM_004369.4(COL6A3):c.9329-4A>G
NM_004369.4(COL6A3):c.9329-7A>T
NM_004369.4(COL6A3):c.937G>A (p.Gly313Arg)
NM_004369.4(COL6A3):c.966C>A (p.Ile322=) rs369160080

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