ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1865
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) rs116729313 0.00265
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
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.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00096
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407 0.00096
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324 0.00077
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.7447A>G (p.Lys2483Glu) rs139260335 0.00057
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.786C>T (p.Leu262=) rs111481402 0.00043
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.5839-3C>T rs112825341 0.00037
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His) rs201314411 0.00036
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.9148G>A (p.Ala3050Thr) rs114596320 0.00032
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.1478T>C (p.Val493Ala) rs116794756 0.00030
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.6151C>A (p.Pro2051Thr) rs370397767 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.1572C>T (p.Tyr524=) rs115973206 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 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.8966-3C>A rs190667494 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.3680-4G>A rs376123972 0.00024
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn) rs142002241 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.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00022
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln) rs374134397 0.00021
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) rs376087730 0.00021
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=) rs115155458 0.00019
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.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.7401G>A (p.Ser2467=) rs377572272 0.00017
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=) rs115757876 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.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=) rs200285455 0.00015
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu) rs140728855 0.00015
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met) rs370719148 0.00014
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr) rs372154635 0.00014
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu) rs145572916 0.00014
NM_004369.4(COL6A3):c.6966+4A>C rs373940717 0.00014
NM_004369.4(COL6A3):c.5501-4C>G rs143237699 0.00013
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946 0.00013
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn) rs146872525 0.00013
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu) rs370246962 0.00013
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser) rs144501019 0.00012
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.4066G>A (p.Ala1356Thr) rs143459232 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.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.9117G>A (p.Thr3039=) rs376780810 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.2305G>A (p.Ala769Thr) rs142719863 0.00010
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 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.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu) rs113896755 0.00010
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 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.2144C>T (p.Ser715Leu) rs780115806 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.414C>T (p.Ala138=) rs148996231 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.5020G>A (p.Asp1674Asn) rs778940391 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.5743C>T (p.Arg1915Trp) rs201938007 0.00009
NM_004369.4(COL6A3):c.6157-4T>G rs536696110 0.00009
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590 0.00009
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956 0.00009
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) rs201479636 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.9059A>G (p.Tyr3020Cys) rs371006546 0.00009
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr) rs375022162 0.00008
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.4595C>T (p.Ala1532Val) rs372247515 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.8236G>A (p.Glu2746Lys) rs111395856 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.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu) rs531282669 0.00007
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=) rs550085228 0.00007
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile) rs886044270 0.00007
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln) rs777496872 0.00007
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu) rs547651808 0.00006
NM_004369.4(COL6A3):c.1313-7C>T rs764201905 0.00006
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln) rs149330325 0.00006
NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys) rs200722892 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 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.3732C>T (p.Ala1244=) rs193265138 0.00006
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val) rs778458923 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.4894C>T (p.Arg1632Trp) rs113755498 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.550G>A (p.Ala184Thr) rs767499336 0.00006
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443 0.00006
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala) rs774606469 0.00006
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His) rs148613877 0.00006
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu) rs372281922 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln) rs895701604 0.00006
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe) rs768564642 0.00006
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser) rs144152285 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.7832C>T (p.Ala2611Val) rs114806654 0.00006
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser) rs748491825 0.00006
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu) rs367635298 0.00006
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315 0.00006
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His) rs111295967 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.3671C>T (p.Pro1224Leu) rs754323567 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625 0.00005
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met) rs144878757 0.00005
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr) rs201722265 0.00005
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys) rs144451523 0.00005
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile) rs773631759 0.00005
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln) rs760717002 0.00005
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser) rs112540218 0.00005
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys) rs113251155 0.00005
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser) rs777454204 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.7749G>A (p.Thr2583=) rs758582935 0.00005
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490 0.00005
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly) rs199680718 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.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.2162C>G (p.Ser721Ter) rs377632042 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.2745C>T (p.Asn915=) rs749992393 0.00004
NM_004369.4(COL6A3):c.285G>A (p.Thr95=) rs373435541 0.00004
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala) rs766458324 0.00004
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu) rs775536678 0.00004
NM_004369.4(COL6A3):c.3070+6G>A rs761124398 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.3545C>T (p.Pro1182Leu) rs768064422 0.00004
NM_004369.4(COL6A3):c.3679+5G>T rs138878144 0.00004
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg) rs150548221 0.00004
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp) rs577927810 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.4411A>C (p.Ser1471Arg) rs150321587 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.4742C>G (p.Thr1581Arg) rs1156524068 0.00004
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=) rs200948078 0.00004
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn) rs762035107 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.5393G>A (p.Arg1798His) rs371441617 0.00004
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=) rs114357878 0.00004
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys) rs781624176 0.00004
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=) rs751159969 0.00004
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu) rs370806359 0.00004
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser) rs771489087 0.00004
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg) rs554219567 0.00004
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met) rs200478135 0.00004
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala) rs540633944 0.00004
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln) rs145561490 0.00004
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=) rs374952003 0.00004
NM_004369.4(COL6A3):c.6931-6T>C rs376338674 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.7748C>T (p.Thr2583Met) rs140021275 0.00004
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr) rs776220123 0.00004
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met) rs373680762 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.8415C>T (p.Asn2805=) rs375442243 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met) rs770436761 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.1217G>A (p.Arg406His) rs753651742 0.00003
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met) rs755178814 0.00003
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser) rs375285237 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 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.2161T>C (p.Ser721Pro) rs146794191 0.00003
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His) rs529827991 0.00003
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn) rs544229002 0.00003
NM_004369.4(COL6A3):c.2354A>C (p.Glu785Ala) rs1312895317 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.2561T>C (p.Val854Ala) rs747449879 0.00003
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=) rs367991818 0.00003
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu) rs774161895 0.00003
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser) rs762584015 0.00003
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu) rs371991808 0.00003
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921 0.00003
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser) rs753056634 0.00003
NM_004369.4(COL6A3):c.3629G>A (p.Arg1210His) rs373324548 0.00003
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu) rs75071027 0.00003
NM_004369.4(COL6A3):c.3679+4C>T rs774411894 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.4197C>A (p.Ser1399Arg) rs755091615 0.00003
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=) rs142938239 0.00003
NM_004369.4(COL6A3):c.4285+14G>A rs373893821 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.4697C>T (p.Ser1566Leu) rs752785838 0.00003
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser) rs747965230 0.00003
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=) rs140516220 0.00003
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln) rs1311406995 0.00003
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His) rs774808500 0.00003
NM_004369.4(COL6A3):c.5315A>G (p.Lys1772Arg) rs140929211 0.00003
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe) rs754788931 0.00003
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys) rs886043180 0.00003
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu) rs778288464 0.00003
NM_004369.4(COL6A3):c.5893G>C (p.Ala1965Pro) rs1364239110 0.00003
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln) rs780489910 0.00003
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val) rs201539582 0.00003
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=) rs762950440 0.00003
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) rs113331139 0.00003
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928 0.00003
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=) rs765837100 0.00003
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met) rs141586922 0.00003
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile) rs375640580 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.7687G>C (p.Gly2563Arg) rs780964113 0.00003
NM_004369.4(COL6A3):c.774C>T (p.Phe258=) rs766589204 0.00003
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val) rs372278071 0.00003
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr) rs398124135 0.00003
NM_004369.4(COL6A3):c.804C>G (p.Leu268=) rs372517103 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.8359G>A (p.Ala2787Thr) rs763395740 0.00003
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile) rs569907876 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.8660C>T (p.Thr2887Ile) rs765812583 0.00003
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val) rs751532649 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.9329-33C>T rs398124137 0.00003
NM_004369.4(COL6A3):c.936C>T (p.Leu312=) rs377629176 0.00003
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr) rs1174559820 0.00002
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=) rs548519047 0.00002
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175 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.1571A>G (p.Tyr524Cys) rs147546808 0.00002
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile) rs757748748 0.00002
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys) rs751952844 0.00002
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=) rs763426415 0.00002
NM_004369.4(COL6A3):c.1897+3A>G rs369549597 0.00002
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=) rs988504831 0.00002
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg) rs760976593 0.00002
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) rs768242367 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.2756C>T (p.Ala919Val) rs115327470 0.00002
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=) rs115874872 0.00002
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln) rs762016120 0.00002
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro) rs758482171 0.00002
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn) rs760543147 0.00002
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=) rs886042997 0.00002
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile) rs576798969 0.00002
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=) rs1434102843 0.00002
NM_004369.4(COL6A3):c.3624C>T (p.Leu1208=) rs376997896 0.00002
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) rs542411896 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=) rs114110705 0.00002
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln) rs774461787 0.00002
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe) rs750951694 0.00002
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=) rs770489225 0.00002
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu) rs746868834 0.00002
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile) rs749556880 0.00002
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=) rs371075249 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.4973T>C (p.Val1658Ala) rs377630865 0.00002
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His) rs982703428 0.00002
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr) rs1034783532 0.00002
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=) rs766291321 0.00002
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 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.5528T>C (p.Phe1843Ser) rs770876436 0.00002
NM_004369.4(COL6A3):c.5632A>C (p.Ser1878Arg) rs759503358 0.00002
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=) rs770825082 0.00002
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val) rs754618002 0.00002
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys) rs768330671 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.6210C>T (p.Pro2070=) rs774374140 0.00002
NM_004369.4(COL6A3):c.6234G>A (p.Val2078=) rs775641801 0.00002
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=) rs886043269 0.00002
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr) rs374476448 0.00002
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr) rs750889657 0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln) rs766968738 0.00002
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=) rs777752945 0.00002
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys) rs557578629 0.00002
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp) rs746420745 0.00002
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser) rs778720252 0.00002
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu) rs776496050 0.00002
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln) rs772077690 0.00002
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=) rs1439207088 0.00002
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe) rs755107410 0.00002
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala) rs749169391 0.00002
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His) rs769656291 0.00002
NM_004369.4(COL6A3):c.8596C>T (p.Pro2866Ser) rs764921677 0.00002
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val) rs757146083 0.00002
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile) rs536607503 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.973G>A (p.Ala325Thr) rs905662421 0.00002
NM_004369.4(COL6A3):c.*377C>T rs557107413 0.00001
NM_004369.4(COL6A3):c.*754T>A rs886055801 0.00001
NM_004369.4(COL6A3):c.-6T>C rs746340926 0.00001
NM_004369.4(COL6A3):c.-88A>G rs912938756 0.00001
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222 0.00001
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.1045G>A (p.Val349Met) rs1464663206 0.00001
NM_004369.4(COL6A3):c.1057A>G (p.Ile353Val) rs2078187494 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.1075A>G (p.Ser359Gly) rs114235473 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.1147G>A (p.Ala383Thr) rs146429448 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.1322T>C (p.Val441Ala) rs886042403 0.00001
NM_004369.4(COL6A3):c.1327A>G (p.Lys443Glu) rs886043683 0.00001
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val) rs377757978 0.00001
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys) rs779588195 0.00001
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg) rs777693832 0.00001
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215 0.00001
NM_004369.4(COL6A3):c.1514A>T (p.Lys505Ile) rs747914812 0.00001
NM_004369.4(COL6A3):c.1529C>T (p.Thr510Ile) rs555333405 0.00001
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met) rs1386395959 0.00001
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys) rs188510971 0.00001
NM_004369.4(COL6A3):c.1558G>A (p.Gly520Ser) rs776270797 0.00001
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala) rs770496206 0.00001
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His) rs993649247 0.00001
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser) rs780262157 0.00001
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val) rs756181209 0.00001
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=) rs200205650 0.00001
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His) rs539057609 0.00001
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys) rs1278327904 0.00001
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val) rs753189030 0.00001
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala) rs1362702190 0.00001
NM_004369.4(COL6A3):c.1728C>A (p.Ser576Arg) rs760311733 0.00001
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser) rs2077990679 0.00001
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn) rs886043408 0.00001
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=) rs774234847 0.00001
NM_004369.4(COL6A3):c.1829C>T (p.Ala610Val) rs1273141104 0.00001
NM_004369.4(COL6A3):c.1897+6G>A rs1189511183 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.2027T>G (p.Ile676Ser) rs771749492 0.00001
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu) rs1347014329 0.00001
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=) rs368826874 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys) rs763798987 0.00001
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg) rs762752112 0.00001
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr) rs759150949 0.00001
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val) rs116753562 0.00001
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly) rs773202559 0.00001
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu) rs747957874 0.00001
NM_004369.4(COL6A3):c.2382C>A (p.Ser794Arg) rs1309440736 0.00001
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile) rs768905903 0.00001
NM_004369.4(COL6A3):c.2411C>T (p.Ser804Phe) rs2077916897 0.00001
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=) rs752530417 0.00001
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe) rs1455744375 0.00001
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg) rs200887514 0.00001
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val) rs771091001 0.00001
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly) rs1326943912 0.00001
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys) rs201327438 0.00001
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736 0.00001
NM_004369.4(COL6A3):c.2706T>C (p.Leu902=) rs754060767 0.00001
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe) rs1370199768 0.00001
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp) rs149310819 0.00001
NM_004369.4(COL6A3):c.2732G>T (p.Gly911Val) rs149310819 0.00001
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=) rs116256579 0.00001
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe) rs1441141878 0.00001
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro) rs1339733240 0.00001
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr) rs374960915 0.00001
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met) rs769697782 0.00001
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His) rs775993027 0.00001
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser) rs1226873582 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.3053A>G (p.Asn1018Ser) rs375167315 0.00001
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser) rs556864605 0.00001
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser) rs1465296993 0.00001
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser) rs748313591 0.00001
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His) rs768971873 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.322A>G (p.Asn108Asp) rs2078395425 0.00001
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile) rs761490778 0.00001
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys) rs1425555208 0.00001
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile) rs373915980 0.00001
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp) rs745854120 0.00001
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr) rs369460632 0.00001
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp) rs1574710031 0.00001
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp) rs769494656 0.00001
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe) rs2077785777 0.00001
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn) rs777599612 0.00001
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=) rs762152367 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.3569C>A (p.Thr1190Asn) rs369994205 0.00001
NM_004369.4(COL6A3):c.3575G>A (p.Arg1192His) rs776312405 0.00001
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) rs949598599 0.00001
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys) rs886042393 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.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn) rs563617159 0.00001
NM_004369.4(COL6A3):c.3789C>T (p.Asp1263=) rs779279055 0.00001
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp) rs781735632 0.00001
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127 0.00001
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=) rs886042792 0.00001
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu) rs372089952 0.00001
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu) rs886043888 0.00001
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr) rs35799634 0.00001
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=) rs766856187 0.00001
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala) rs1480888719 0.00001
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys) rs762544728 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.4145C>T (p.Ser1382Leu) rs767829363 0.00001
NM_004369.4(COL6A3):c.415G>A (p.Gly139Ser) rs749386499 0.00001
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val) rs780669785 0.00001
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln) rs1210132500 0.00001
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg) rs398124120 0.00001
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln) rs539986030 0.00001
NM_004369.4(COL6A3):c.4257C>G (p.Leu1419=) rs145889244 0.00001
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His) rs1168273415 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.4524C>G (p.Leu1508=) rs755902927 0.00001
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His) rs115765346 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.4795T>C (p.Phe1599Leu) rs911848582 0.00001
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys) rs1386145634 0.00001
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys) rs931661932 0.00001
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu) rs201532239 0.00001
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn) rs149261556 0.00001
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=) rs767560639 0.00001
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile) rs1341078916 0.00001
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val) rs757496683 0.00001
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg) rs1026210962 0.00001
NM_004369.4(COL6A3):c.5085C>G (p.Asp1695Glu) rs886044181 0.00001
NM_004369.4(COL6A3):c.5092A>G (p.Thr1698Ala) rs762789220 0.00001
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr) rs886042488 0.00001
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu) rs779425587 0.00001
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly) rs1365983591 0.00001
NM_004369.4(COL6A3):c.514G>A (p.Val172Met) rs1270503233 0.00001
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile) rs772640905 0.00001
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu) rs769177221 0.00001
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg) rs756781502 0.00001
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met) rs201147199 0.00001
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=) rs886043174 0.00001
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu) rs764975992 0.00001
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val) rs1477823319 0.00001
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser) rs750040219 0.00001
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys) rs886044508 0.00001
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg) rs751626953 0.00001
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr) rs2077562058 0.00001
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val) rs747200439 0.00001
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn) rs78904746 0.00001
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser) rs148488423 0.00001
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His) rs748330667 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.5655G>C (p.Val1885=) rs756468711 0.00001
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu) rs1423516861 0.00001
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu) rs760532694 0.00001
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys) rs1159000538 0.00001
NM_004369.4(COL6A3):c.5750T>C (p.Met1917Thr) rs398124124 0.00001
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu) rs563800854 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=) rs555406717 0.00001
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala) rs1293700251 0.00001
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=) rs113283088 0.00001
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=) rs727503884 0.00001
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln) rs767725940 0.00001
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe) rs763429012 0.00001
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr) rs376548186 0.00001
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=) rs367696163 0.00001
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys) rs1001689383 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=) rs1172901266 0.00001
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp) rs765647487 0.00001
NM_004369.4(COL6A3):c.6211-9del rs1280994015 0.00001
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser) rs1364892747 0.00001
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=) rs777097924 0.00001
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=) rs894679602 0.00001
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala) rs746104217 0.00001
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=) rs1349524156 0.00001
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=) rs776493521 0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058 0.00001
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu) rs761812649 0.00001
NM_004369.4(COL6A3):c.6592-3C>T rs760143724 0.00001
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser) rs1257553370 0.00001
NM_004369.4(COL6A3):c.6628-47G>C rs398124130 0.00001
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile) rs376621780 0.00001
NM_004369.4(COL6A3):c.6691-3C>T rs757686067 0.00001
NM_004369.4(COL6A3):c.6754-9C>G rs886038542 0.00001
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser) rs1330724943 0.00001
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513 0.00001
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu) rs773775745 0.00001
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr) rs779359869 0.00001
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln) rs777794580 0.00001
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526 0.00001
NM_004369.4(COL6A3):c.6879+49G>A rs398124132 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=) rs764508785 0.00001
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr) rs778845754 0.00001
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys) rs1282952198 0.00001
NM_004369.4(COL6A3):c.6966+10C>G rs995436631 0.00001
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser) rs886044392 0.00001
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys) rs1435064229 0.00001
NM_004369.4(COL6A3):c.7029+3A>G rs886044464 0.00001
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu) rs367725413 0.00001
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr) rs886043065 0.00001
NM_004369.4(COL6A3):c.709+4A>G rs1458579992 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn) rs778371231 0.00001
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=) rs376714139 0.00001
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu) rs377084627 0.00001
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser) rs749446863 0.00001
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln) rs748029252 0.00001
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val) rs1462967965 0.00001
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys) rs900113844 0.00001
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176 0.00001
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln) rs753090057 0.00001
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn) rs1269973980 0.00001
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met) rs747074064 0.00001
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=) rs778474394 0.00001
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg) rs1445471566 0.00001
NM_004369.4(COL6A3):c.7438C>T (p.Leu2480=) rs771258471 0.00001
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu) rs756868798 0.00001
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val) rs794727591 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.7649A>C (p.Gln2550Pro) rs886055805 0.00001
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser) rs1009561726 0.00001
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu) rs886055804 0.00001
NM_004369.4(COL6A3):c.7744C>T (p.Leu2582Phe) rs780850057 0.00001
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala) rs767993846 0.00001
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn) rs756654349 0.00001
NM_004369.4(COL6A3):c.787G>T (p.Asp263Tyr) rs774576681 0.00001
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg) rs886044041 0.00001
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe) rs572430889 0.00001
NM_004369.4(COL6A3):c.8032G>A (p.Ala2678Thr) rs886044342 0.00001
NM_004369.4(COL6A3):c.8073C>A (p.Asp2691Glu) rs886042689 0.00001
NM_004369.4(COL6A3):c.807T>C (p.Leu269=) rs776357610 0.00001
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu) rs778195223 0.00001
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val) rs762902561 0.00001
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln) rs111764507 0.00001
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe) rs141344389 0.00001
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=) rs769124771 0.00001
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr) rs775790310 0.00001
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly) rs779036168 0.00001
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=) rs766217603 0.00001
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly) rs886044347 0.00001
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=) rs772967228 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.8422C>T (p.Pro2808Ser) rs1335582737 0.00001
NM_004369.4(COL6A3):c.8428A>C (p.Met2810Leu) rs886043574 0.00001
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys) rs371361651 0.00001
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg) rs146131332 0.00001
NM_004369.4(COL6A3):c.8465G>A (p.Ser2822Asn) rs1334499975 0.00001
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys) rs755510736 0.00001
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu) rs1296360526 0.00001
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile) rs371745862 0.00001
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met) rs759009226 0.00001
NM_004369.4(COL6A3):c.861C>G (p.Ser287Arg) rs756380512 0.00001
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr) rs377528704 0.00001
NM_004369.4(COL6A3):c.8798C>T (p.Pro2933Leu) rs373550111 0.00001
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala) rs1218467207 0.00001
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu) rs766551222 0.00001
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val) rs557120711 0.00001
NM_004369.4(COL6A3):c.8954C>G (p.Thr2985Ser) rs1700530729 0.00001
NM_004369.4(COL6A3):c.8966-6T>C rs756239147 0.00001
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly) rs747642083 0.00001
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser) rs529079748 0.00001
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr) rs745651769 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp) rs376939353 0.00001
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys) rs368568929 0.00001
NM_004369.4(COL6A3):c.9229+4A>C rs749872311 0.00001
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His) rs760496428 0.00001
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser) rs1468004640 0.00001
NM_004369.4(COL6A3):c.9284T>C (p.Ile3095Thr) rs1064796356 0.00001
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro) rs886042363 0.00001
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg) rs781141962 0.00001
GRCh37/hg19 2q37.3(chr2:238131760-238391406)x3
NC_000002.11:g.(?_238233407)_(238305470_?)dup
NC_000002.11:g.(?_238242073)_(238243552_?)del
NC_000002.11:g.(?_238272973)_(238281000_?)del
NC_000002.11:g.(?_238289548)_(238296837_?)del
NC_000002.12:g.(?_237333450)_(237334889_?)del
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
NM_004369.4(COL6A3):c.*285A>G rs545556564
NM_004369.4(COL6A3):c.*615G>A rs1699811416
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn) rs2106378691
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu) rs140510298
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
NM_004369.4(COL6A3):c.1035G>A (p.Gly345=) rs886044426
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=) rs886044426
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
NM_004369.4(COL6A3):c.1045G>T (p.Val349Leu) rs1464663206
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu) rs2106378611
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=) rs886044010
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
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.1102_1103delinsAT (p.Ala368Ile) rs2106378544
NM_004369.4(COL6A3):c.1125C>T (p.Phe375=) rs2078184502
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu) rs189772397
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
NM_004369.4(COL6A3):c.1148C>G (p.Ala383Gly)
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly) rs2106388893
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn) rs372071064
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly) rs1051157564
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del) rs886042334
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe) rs2078180823
NM_004369.4(COL6A3):c.11A>T (p.His4Leu) rs777465480
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu) rs746277006
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
NM_004369.4(COL6A3):c.1217G>T (p.Arg406Leu) rs753651742
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
NM_004369.4(COL6A3):c.1230C>A (p.Asp410Glu)
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val) rs1559280207
NM_004369.4(COL6A3):c.1275G>T (p.Arg425Ser) rs370549716
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser) rs2078177097
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe) rs2078177026
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
NM_004369.4(COL6A3):c.128T>C (p.Leu43Pro)
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile) rs2106378142
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe) rs2078176426
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr) rs2106370456
NM_004369.4(COL6A3):c.1334A>T (p.Asp445Val)
NM_004369.4(COL6A3):c.1350G>A (p.Val450=) rs886043010
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp) rs777078456
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val) rs2106370357
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser) rs2106370324
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly) rs2078001580
NM_004369.4(COL6A3):c.1439_1450del (p.Asp480_Gln483del)
NM_004369.4(COL6A3):c.1444A>C (p.Ile482Leu)
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val) rs2106370266
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His) rs2077999753
NM_004369.4(COL6A3):c.1504C>T (p.His502Tyr) rs2106370213
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
NM_004369.4(COL6A3):c.1510A>G (p.Thr504Ala)
NM_004369.4(COL6A3):c.1513A>G (p.Lys505Glu) rs886044230
NM_004369.4(COL6A3):c.1514A>G (p.Lys505Arg) rs747914812
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr) rs2077998366
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser) rs775165275
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp) rs369379463
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
NM_004369.4(COL6A3):c.1555G>C (p.Asp519His)
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
NM_004369.4(COL6A3):c.1598G>C (p.Arg533Pro) rs764614021
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
NM_004369.4(COL6A3):c.1687G>T (p.Asp563Tyr)
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
NM_004369.4(COL6A3):c.1694T>C (p.Ile565Thr)
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val) rs765665120
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
NM_004369.4(COL6A3):c.170T>C (p.Leu57Pro)
NM_004369.4(COL6A3):c.1729A>G (p.Ile577Val)
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu) rs1553562483
NM_004369.4(COL6A3):c.1754A>T (p.Lys585Met)
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu) rs76576170
NM_004369.4(COL6A3):c.1795T>C (p.Ser599Pro)
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile) rs886043319
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu) rs2106369723
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
NM_004369.4(COL6A3):c.1834C>G (p.Pro612Ala)
NM_004369.4(COL6A3):c.1838T>G (p.Leu613Trp)
NM_004369.4(COL6A3):c.1839G>T (p.Leu613Phe)
NM_004369.4(COL6A3):c.1846A>G (p.Met616Val) rs886043993
NM_004369.4(COL6A3):c.1868C>G (p.Pro623Arg)
NM_004369.4(COL6A3):c.1872C>A (p.Leu624=) rs886044014
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys) rs886043105
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr) rs769257731
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn) rs1181696188
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala) rs768274647
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile) rs149187225
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
NM_004369.4(COL6A3):c.194T>C (p.Val65Ala)
NM_004369.4(COL6A3):c.1970A>G (p.Tyr657Cys)
NM_004369.4(COL6A3):c.1976G>T (p.Arg659Leu)
NM_004369.4(COL6A3):c.1979A>C (p.Asp660Ala) rs1064797036
NM_004369.4(COL6A3):c.1979A>G (p.Asp660Gly)
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser) rs746265516
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
NM_004369.4(COL6A3):c.2011A>G (p.Ile671Val)
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
NM_004369.4(COL6A3):c.2027T>C (p.Ile676Thr)
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu) rs35227432
NM_004369.4(COL6A3):c.2035G>A (p.Gly679Ser)
NM_004369.4(COL6A3):c.2035G>T (p.Gly679Cys) rs201031137
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp) rs1325552568
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly) rs753741086
NM_004369.4(COL6A3):c.2056A>C (p.Thr686Pro)
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu) rs2106367262
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly) rs2106367237
NM_004369.4(COL6A3):c.2083A>G (p.Thr695Ala) rs1559258597
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
NM_004369.4(COL6A3):c.2086T>C (p.Tyr696His) rs370342622
NM_004369.4(COL6A3):c.2094C>T (p.Thr698=) rs1559258559
NM_004369.4(COL6A3):c.2095A>G (p.Lys699Glu)
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
NM_004369.4(COL6A3):c.2105T>C (p.Ile702Thr) rs141068214
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
NM_004369.4(COL6A3):c.2120G>A (p.Arg707Lys)
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys) rs2106367135
NM_004369.4(COL6A3):c.212T>C (p.Val71Ala)
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val) rs2106367128
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.2146G>A (p.Gly716Ser) rs1559258438
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser) rs113393241
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly) rs138570455
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys) rs370719148
NM_004369.4(COL6A3):c.2210G>T (p.Ser737Ile) rs1553561974
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser) rs1410013839
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys) rs147182340
NM_004369.4(COL6A3):c.2253A>G (p.Thr751=) rs886055809
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
NM_004369.4(COL6A3):c.2322T>A (p.Phe774Leu)
NM_004369.4(COL6A3):c.2324G>T (p.Cys775Phe) rs756337970
NM_004369.4(COL6A3):c.2339A>G (p.Gln780Arg) rs2106366752
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln) rs776048975
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
NM_004369.4(COL6A3):c.2367T>A (p.Ile789=) rs886043400
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp) rs1574719707
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val) rs777869450
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro) rs939675343
NM_004369.4(COL6A3):c.2401G>A (p.Asp801Asn) rs2077916971
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser) rs1574719546
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
NM_004369.4(COL6A3):c.2425C>T (p.Pro809Ser)
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala) rs2106366553
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
NM_004369.4(COL6A3):c.2462G>A (p.Ser821Asn)
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
NM_004369.4(COL6A3):c.2476G>A (p.Glu826Lys)
NM_004369.4(COL6A3):c.2488G>A (p.Ala830Thr) rs77181645
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
NM_004369.4(COL6A3):c.2497+20G>A
NM_004369.4(COL6A3):c.2497+3A>T
NM_004369.4(COL6A3):c.2497+4_2497+9del
NM_004369.4(COL6A3):c.2497+9C>T rs774198344
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
NM_004369.4(COL6A3):c.2507G>T (p.Arg836Leu) rs763810209
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
NM_004369.4(COL6A3):c.2544T>C (p.Leu848=) rs1559255804
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu) rs1574716769
NM_004369.4(COL6A3):c.2566C>T (p.Arg856Cys)
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly) rs2077873907
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val) rs570233756
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys) rs2106364778
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
NM_004369.4(COL6A3):c.2612A>C (p.Glu871Ala)
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=) rs1559255553
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
NM_004369.4(COL6A3):c.2629G>A (p.Val877Met)
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
NM_004369.4(COL6A3):c.264T>A (p.His88Gln)
NM_004369.4(COL6A3):c.2651T>G (p.Val884Gly)
NM_004369.4(COL6A3):c.2655G>T (p.Lys885Asn)
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys) rs780855121
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val) rs2077868769
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) rs2078397283
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met) rs890279367
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys) rs2077868316
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys) rs189356869
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.4(COL6A3):c.273C>T (p.Phe91=) rs886042867
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp) rs2106364518
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys) rs774872934
NM_004369.4(COL6A3):c.2848G>A (p.Gly950Arg)
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys) rs886043736
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly) rs543253703
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala) rs1226873582
NM_004369.4(COL6A3):c.2909C>G (p.Pro970Arg) rs886044591
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser) rs768292803
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu) rs763515820
NM_004369.4(COL6A3):c.2938C>A (p.Pro980Thr) rs769664063
NM_004369.4(COL6A3):c.2938C>G (p.Pro980Ala)
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala) rs2077857997
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
NM_004369.4(COL6A3):c.2952G>C (p.Glu984Asp) rs1553561212
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met) rs145203676
NM_004369.4(COL6A3):c.2972C>A (p.Ala991Glu) rs202185764
NM_004369.4(COL6A3):c.2977A>G (p.Ile993Val) rs886042763
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr) rs2077856364
NM_004369.4(COL6A3):c.2984C>T (p.Ala995Val) rs886042163
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn) rs2106364042
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val) rs1194314017
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln) rs114284669
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu) rs2077853056
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=) rs886042836
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
NM_004369.4(COL6A3):c.3059C>G (p.Ala1020Gly) rs779382813
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser) rs2077852366
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
NM_004369.4(COL6A3):c.3092T>C (p.Val1031Ala)
NM_004369.4(COL6A3):c.3101T>C (p.Leu1034Pro) rs2106361745
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=) rs2077798088
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys) rs2106361725
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
NM_004369.4(COL6A3):c.3127_3129delinsAGT (p.Gly1043Ser)
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=) rs780402445
NM_004369.4(COL6A3):c.3141G>C (p.Leu1047Phe) rs746229521
NM_004369.4(COL6A3):c.3142A>G (p.Lys1048Glu)
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu) rs532449385
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
NM_004369.4(COL6A3):c.3178G>A (p.Val1060Met) rs1277217858
NM_004369.4(COL6A3):c.3186G>C (p.Gln1062His) rs2077794944
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala) rs1238550268
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.3235G>A (p.Glu1079Lys) rs762778512
NM_004369.4(COL6A3):c.3250T>C (p.Ser1084Pro)
NM_004369.4(COL6A3):c.3256A>G (p.Met1086Val) rs1559250887
NM_004369.4(COL6A3):c.326T>C (p.Met109Thr)
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser) rs369460632
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg) rs2106361380
NM_004369.4(COL6A3):c.3307G>C (p.Gly1103Arg)
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
NM_004369.4(COL6A3):c.3318C>T (p.Pro1106=) rs1200436620
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg) rs752924311
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=) rs1553560545
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met) rs1574709919
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg) rs2106361269
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val) rs372844024
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser) rs2077786156
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val) rs2077785980
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile) rs199964760
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
NM_004369.4(COL6A3):c.3429G>T (p.Arg1143Ser)
NM_004369.4(COL6A3):c.3430T>C (p.Ser1144Pro)
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala) rs2106388440
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr) rs2106361118
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg) rs146313030
NM_004369.4(COL6A3):c.3478G>T (p.Ala1160Ser)
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys) rs2106388428
NM_004369.4(COL6A3):c.3494T>A (p.Ile1165Asn)
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.34G>T (p.Val12Phe) rs137910388
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile) rs2077780771
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
NM_004369.4(COL6A3):c.3574C>T (p.Arg1192Cys)
NM_004369.4(COL6A3):c.3579G>T (p.Gln1193His)
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile) rs748053172
NM_004369.4(COL6A3):c.3595C>G (p.Gln1199Glu) rs886042510
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
NM_004369.4(COL6A3):c.3620A>G (p.Gln1207Arg) rs1298604950
NM_004369.4(COL6A3):c.3626C>T (p.Thr1209Ile) rs780311080
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys) rs2077777129
NM_004369.4(COL6A3):c.3650_3651delinsTT (p.Gln1217Leu)
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser) rs1553560314
NM_004369.4(COL6A3):c.3679+5G>A
NM_004369.4(COL6A3):c.3680-14C>G
NM_004369.4(COL6A3):c.3696G>A (p.Arg1232=) rs2077714785
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly) rs1190794379
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro) rs1553559646
NM_004369.4(COL6A3):c.3728G>T (p.Ser1243Ile)
NM_004369.4(COL6A3):c.3737C>T (p.Pro1246Leu)
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu) rs368077444
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
NM_004369.4(COL6A3):c.374T>C (p.Ile125Thr) rs886044375
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe) rs886044373
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly) rs773456951
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
NM_004369.4(COL6A3):c.378G>A (p.Met126Ile)
NM_004369.4(COL6A3):c.3790G>C (p.Val1264Leu)
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=) rs886055808
NM_004369.4(COL6A3):c.3806C>A (p.Thr1269Asn)
NM_004369.4(COL6A3):c.3806C>T (p.Thr1269Ile) rs1064796775
NM_004369.4(COL6A3):c.3810G>T (p.Arg1270=) rs886042792
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu) rs2077710026
NM_004369.4(COL6A3):c.3824A>G (p.Gln1275Arg)
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn) rs752309834
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile) rs2077709263
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.386A>G (p.His129Arg)
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=)
NM_004369.4(COL6A3):c.3874A>G (p.Lys1292Glu) rs2077708555
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met) rs899539198
NM_004369.4(COL6A3):c.3909G>T (p.Arg1303Ser) rs1559245709
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=) rs727503885
NM_004369.4(COL6A3):c.3983T>C (p.Leu1328Pro) rs1202069531
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile) rs779967310
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser) rs750341446
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys) rs750341446
NM_004369.4(COL6A3):c.3995T>A (p.Ile1332Asn)
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
NM_004369.4(COL6A3):c.4010C>G (p.Pro1337Arg)
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.4019T>C (p.Leu1340Pro)
NM_004369.4(COL6A3):c.403G>A (p.Gly135Arg)
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn) rs781033908
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) rs1480888719
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile) rs2077700902
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His) rs2106357056
NM_004369.4(COL6A3):c.4085T>C (p.Phe1362Ser) rs745420792
NM_004369.4(COL6A3):c.4091T>C (p.Val1364Ala)
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr) rs1460462771
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr) rs372234605
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser) rs372234605
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
NM_004369.4(COL6A3):c.4129G>T (p.Glu1377Ter)
NM_004369.4(COL6A3):c.4146G>T (p.Ser1382=) rs114791158
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
NM_004369.4(COL6A3):c.4162G>A (p.Val1388Met)
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp) rs780669785
NM_004369.4(COL6A3):c.4173G>A (p.Val1391=) rs1553559164
NM_004369.4(COL6A3):c.4175G>A (p.Ser1392Asn)
NM_004369.4(COL6A3):c.4178C>G (p.Thr1393Ser) rs1559244559
NM_004369.4(COL6A3):c.4184G>T (p.Arg1395Leu) rs80272723
NM_004369.4(COL6A3):c.4222A>G (p.Ile1408Val)
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser) rs764522621
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=) rs759052298
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu) rs1367588379
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del) rs886043395
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
NM_004369.4(COL6A3):c.426C>T (p.Val142=) rs750780415
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
NM_004369.4(COL6A3):c.4285+3G>A
NM_004369.4(COL6A3):c.4286-7T>G
NM_004369.4(COL6A3):c.4291G>C (p.Glu1431Gln)
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg) rs2077626425
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu) rs775286217
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu) rs144314743
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr) rs2106353352
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.4(COL6A3):c.432G>C (p.Gln144His) rs1574755799
NM_004369.4(COL6A3):c.4346C>A (p.Pro1449Gln)
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val) rs2077624929
NM_004369.4(COL6A3):c.4365T>G (p.Ile1455Met)
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln) rs2077624807
NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly) rs1286385833
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys) rs2077624444
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser) rs771199614
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His) rs2077623565
NM_004369.4(COL6A3):c.4412G>A (p.Ser1471Asn)
NM_004369.4(COL6A3):c.4413T>C (p.Ser1471=) rs772068886
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys) rs2106353213
NM_004369.4(COL6A3):c.4423G>T (p.Val1475Phe) rs886042375
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala) rs1216842831
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
NM_004369.4(COL6A3):c.4442G>A (p.Ser1481Asn)
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg) rs2106353172
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser) rs2077622262
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile) rs2077622262
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
NM_004369.4(COL6A3):c.4466A>G (p.Tyr1489Cys)
NM_004369.4(COL6A3):c.4468C>T (p.Leu1490=) rs2077621767
NM_004369.4(COL6A3):c.4496T>G (p.Val1499Gly)
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu) rs115551245
NM_004369.4(COL6A3):c.4504G>T (p.Ala1502Ser) rs201722265
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp) rs2106353091
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
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.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys) rs766158387
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met) rs766158387
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg) rs1293450770
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
NM_004369.4(COL6A3):c.4529G>T (p.Gly1510Val)
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe) rs1370846981
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr) rs2077618678
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
NM_004369.4(COL6A3):c.4577A>T (p.Asn1526Ile)
NM_004369.4(COL6A3):c.4598G>A (p.Gly1533Glu)
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
NM_004369.4(COL6A3):c.4608A>G (p.Ile1536Met) rs755925219
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr) rs1559279425
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
NM_004369.4(COL6A3):c.4664A>G (p.Asp1555Gly)
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu) rs375207869
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr) rs371631320
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu) rs1553557605
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met) rs201178064
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly) rs200825417
NM_004369.4(COL6A3):c.46T>A (p.Phe16Ile)
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn) rs1473351823
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg) rs1340303980
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp) rs1559239453
NM_004369.4(COL6A3):c.4732A>G (p.Ile1578Val)
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala) rs745755603
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His) rs904372024
NM_004369.4(COL6A3):c.4772G>A (p.Arg1591Lys)
NM_004369.4(COL6A3):c.4777G>T (p.Val1593Phe) rs2077611399
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu) rs886042267
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala) rs1559239279
NM_004369.4(COL6A3):c.479T>C (p.Leu160Pro) rs2106388155
NM_004369.4(COL6A3):c.4817A>G (p.Glu1606Gly) rs1064796167
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val) rs1064796167
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser) rs2106352582
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
NM_004369.4(COL6A3):c.4844C>A (p.Pro1615His) rs886044653
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser) rs200433282
NM_004369.4(COL6A3):c.4853C>A (p.Ala1618Asp)
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val) rs1168631702
NM_004369.4(COL6A3):c.4865C>T (p.Pro1622Leu)
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met) rs398124121
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu) rs398124121
NM_004369.4(COL6A3):c.4880C>T (p.Thr1627Ile) rs149261556
NM_004369.4(COL6A3):c.4900+3A>G rs894493736
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu) rs1553556773
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu) rs1559237565
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val) rs941055048
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu) rs1574991145
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr) rs1574991130
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys) rs1194443961
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys) rs1553556695
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu) rs886043879
NM_004369.4(COL6A3):c.5000A>G (p.Asp1667Gly)
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe) rs1028347478
NM_004369.4(COL6A3):c.5041G>C (p.Val1681Leu)
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu) rs370475865
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val) rs147231661
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
NM_004369.4(COL6A3):c.5123A>G (p.Lys1708Arg) rs770936644
NM_004369.4(COL6A3):c.5126T>A (p.Val1709Glu) rs1553556583
NM_004369.4(COL6A3):c.5137G>A (p.Gly1713Arg)
NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr)
NM_004369.4(COL6A3):c.5148C>T (p.His1716=) rs114845780
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg) rs2077571169
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp) rs1553556546
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
NM_004369.4(COL6A3):c.5170G>A (p.Glu1724Lys) rs398124122
NM_004369.4(COL6A3):c.5176C>A (p.Leu1726Met) rs2106350728
NM_004369.4(COL6A3):c.5203G>T (p.Ala1735Ser) rs886044189
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met) rs2077569879
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln) rs886042855
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn) rs536364005
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
NM_004369.4(COL6A3):c.5296C>G (p.Leu1766Val) rs886043939
NM_004369.4(COL6A3):c.52T>C (p.Ser18Pro)
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp) rs2106350563
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser) rs755698278
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg) rs763289509
NM_004369.4(COL6A3):c.5311G>C (p.Val1771Leu) rs1220526606
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala) rs771598463
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly) rs2077565368
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile) rs2106350461
NM_004369.4(COL6A3):c.5359G>A (p.Gly1787Arg) rs2106350453
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
NM_004369.4(COL6A3):c.5378G>A (p.Ser1793Asn) rs886042944
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys) rs114357878
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) rs2077563075
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn) rs1553556280
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln) rs1463075616
NM_004369.4(COL6A3):c.5440G>A (p.Glu1814Lys)
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser) rs1440752292
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
NM_004369.4(COL6A3):c.5500+3A>C rs1345603228
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser) rs1559235332
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
NM_004369.4(COL6A3):c.5522T>C (p.Leu1841Pro) rs886043336
NM_004369.4(COL6A3):c.5522T>G (p.Leu1841Arg) rs886043336
NM_004369.4(COL6A3):c.5525G>A (p.Gly1842Glu) rs886042678
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala) rs747200439
NM_004369.4(COL6A3):c.5542G>T (p.Asp1848Tyr) rs78904746
NM_004369.4(COL6A3):c.5550T>G (p.Asn1850Lys) rs1482232293
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala) rs1559235183
NM_004369.4(COL6A3):c.5569G>A (p.Gly1857Ser)
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn) rs906293407
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr) rs756521643
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser) rs756521643
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser) rs1465215888
NM_004369.4(COL6A3):c.5622G>A (p.Arg1874=) rs886044022
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro) rs1559234936
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu) rs368943871
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
NM_004369.4(COL6A3):c.5678C>G (p.Thr1893Arg) rs143389941
NM_004369.4(COL6A3):c.5684C>G (p.Ser1895Trp)
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=) rs1026411798
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) rs2106349155
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser) rs750367811
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His) rs139230842
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg) rs1351246573
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys) rs1574987599
NM_004369.4(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser) rs1574987505
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
NM_004369.4(COL6A3):c.5809T>G (p.Phe1937Val)
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp) rs2078384466
NM_004369.4(COL6A3):c.5829C>G (p.Asp1943Glu)
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.5838+5G>A rs1553555753
NM_004369.4(COL6A3):c.5838+9G>C
NM_004369.4(COL6A3):c.5839-9T>G
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe) rs1454153037
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr) rs2078384209
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr) rs1364239110
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala) rs200110562
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr) rs2077502544
NM_004369.4(COL6A3):c.58T>A (p.Phe20Ile)
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala) rs773896666
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_004369.4(COL6A3):c.590T>C (p.Met197Thr)
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
NM_004369.4(COL6A3):c.5924G>T (p.Arg1975Leu) rs375287084
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln) rs1362987398
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly) rs558534346
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr) rs1559231403
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg) rs1326219992
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
NM_004369.4(COL6A3):c.6002T>A (p.Met2001Lys)
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val) rs1211265308
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
NM_004369.4(COL6A3):c.6053C>A (p.Ala2018Glu)
NM_004369.4(COL6A3):c.6063+5dup rs2077478134
NM_004369.4(COL6A3):c.6063+8T>G rs1171003491
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=) rs886044237
NM_004369.4(COL6A3):c.6070A>G (p.Ile2024Val)
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly) rs2106344266
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr) rs758893173
NM_004369.4(COL6A3):c.6092G>A (p.Gly2031Glu)
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe) rs1316305394
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn) rs1574755113
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser) rs767129751
NM_004369.4(COL6A3):c.6124G>C (p.Asp2042His)
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
NM_004369.4(COL6A3):c.6139G>A (p.Gly2047Ser)
NM_004369.4(COL6A3):c.6146T>G (p.Ile2049Ser) rs2077441565
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp) rs2106343480
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys) rs2106343479
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.619C>A (p.His207Asn) rs749985039
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr) rs749985039
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp) rs963783516
NM_004369.4(COL6A3):c.6210+4dup
NM_004369.4(COL6A3):c.6210+5G>T rs886044593
NM_004369.4(COL6A3):c.6210+9_6210+19del
NM_004369.4(COL6A3):c.6211-11T>A
NM_004369.4(COL6A3):c.6211-23_6211-14delinsTTTTGC rs886055806
NM_004369.4(COL6A3):c.6211-4A>G rs398124127
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys) rs2106342311
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys) rs1306849935
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu) rs2106342286
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr) rs2106342283
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val) rs794727188
NM_004369.4(COL6A3):c.6245A>C (p.Gln2082Pro)
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
NM_004369.4(COL6A3):c.6257G>T (p.Gly2086Val) rs1574976543
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
NM_004369.4(COL6A3):c.6270G>T (p.Gln2090His)
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln) rs2106342223
NM_004369.4(COL6A3):c.6282G>A (p.Lys2094=) rs1574976498
NM_004369.4(COL6A3):c.6354+5G>A
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu) rs1574974640
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly) rs530866854
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp) rs2106340479
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg) rs2106340509
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys) rs1574973805
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn) rs2077367323
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro) rs145561490
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu) rs758376967
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu) rs745761792
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg) rs762287373
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
NM_004369.4(COL6A3):c.6538-4C>T rs886044433
NM_004369.4(COL6A3):c.6558A>G (p.Gly2186=) rs2077340902
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu) rs2106339211
NM_004369.4(COL6A3):c.6569G>T (p.Gly2190Val)
NM_004369.4(COL6A3):c.6571C>T (p.Pro2191Ser) rs370056446
NM_004369.4(COL6A3):c.6581C>A (p.Thr2194Asn)
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
NM_004369.4(COL6A3):c.6591+5G>A rs1574971639
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser) rs761353795
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp) rs1319341064
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr) rs748768672
NM_004369.4(COL6A3):c.6614C>T (p.Pro2205Leu)
NM_004369.4(COL6A3):c.6617C>G (p.Pro2206Arg) rs1451371831
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr) rs398124129
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser) rs398124129
NM_004369.4(COL6A3):c.6627+3G>A
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=) rs765837100
NM_004369.4(COL6A3):c.6646G>A (p.Gly2216Ser)
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val) rs2106334478
NM_004369.4(COL6A3):c.6692G>T (p.Gly2231Val)
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
NM_004369.4(COL6A3):c.6703C>T (p.Pro2235Ser)
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala) rs1574963550
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln) rs753307921
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val) rs1473692842
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
NM_004369.4(COL6A3):c.6769G>T (p.Ala2257Ser)
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr) rs2077198497
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
NM_004369.4(COL6A3):c.6794G>C (p.Arg2265Thr)
NM_004369.4(COL6A3):c.6796A>G (p.Thr2266Ala) rs1553550496
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=) rs116541926
NM_004369.4(COL6A3):c.6801T>C (p.Gly2267=) rs2077197822
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn) rs2077197570
NM_004369.4(COL6A3):c.6817-5T>C rs794727464
NM_004369.4(COL6A3):c.6817-6G>A rs886042773
NM_004369.4(COL6A3):c.6823C>A (p.Pro2275Thr)
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg) rs761156771
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr) rs1574958818
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val) rs1186288111
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His) rs398124131
NM_004369.4(COL6A3):c.6871G>T (p.Gly2291Trp) rs727502836
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys) rs759657526
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=) rs886044656
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg) rs1224613890
NM_004369.4(COL6A3):c.6897C>A (p.Asp2299Glu)
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe) rs1559212695
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr) rs2106329002
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser) rs370862741
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His) rs1177122610
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser) rs1243164167
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu) rs751617505
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys) rs113961575
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr) rs886044392
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala) rs886044392
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser) rs2077126598
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
NM_004369.4(COL6A3):c.7029+11G>A
NM_004369.4(COL6A3):c.7030-4C>G rs886042395
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg) rs2106326911
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
NM_004369.4(COL6A3):c.7045C>T (p.Pro2349Ser) rs886044470
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly) rs1482724586
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser) rs934983963
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
NM_004369.4(COL6A3):c.7092+5G>A
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr) rs1553564820
NM_004369.4(COL6A3):c.70C>T (p.His24Tyr)
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
NM_004369.4(COL6A3):c.7162+2dup
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
NM_004369.4(COL6A3):c.7163-2A>G rs1559207854
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly) rs2078202028
NM_004369.4(COL6A3):c.7174+4A>C rs398124133
NM_004369.4(COL6A3):c.7174+5G>A rs777424537
NM_004369.4(COL6A3):c.7174+5G>T
NM_004369.4(COL6A3):c.7175-3C>T
NM_004369.4(COL6A3):c.7175-6C>A rs199723531
NM_004369.4(COL6A3):c.7175-6C>G rs199723531
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu) rs2078201961
NM_004369.4(COL6A3):c.7192G>C (p.Val2398Leu)
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro) rs2077065222
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val) rs2077064946
NM_004369.4(COL6A3):c.7226C>T (p.Thr2409Ile)
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu) rs768794876
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala) rs1339553173
NM_004369.4(COL6A3):c.7264C>G (p.Arg2422Gly) rs878854379
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
NM_004369.4(COL6A3):c.7300A>G (p.Ile2434Val)
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
NM_004369.4(COL6A3):c.7334T>G (p.Val2445Gly)
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met) rs1400293403
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile) rs2106379268
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala) rs2077061420
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys) rs886044364
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp) rs114199044
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu) rs2077060526
NM_004369.4(COL6A3):c.7394G>T (p.Arg2465Met)
NM_004369.4(COL6A3):c.7398G>A (p.Lys2466=) rs758223638
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
NM_004369.4(COL6A3):c.7425C>A (p.Asn2475Lys) rs998223951
NM_004369.4(COL6A3):c.7430A>G (p.Gln2477Arg)
NM_004369.4(COL6A3):c.7435G>A (p.Ala2479Thr)
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) rs1574948119
NM_004369.4(COL6A3):c.7461G>A (p.Leu2487=) rs886044388
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys) rs2106324901
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile) rs2106324896
NM_004369.4(COL6A3):c.7469C>T (p.Ala2490Val)
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
NM_004369.4(COL6A3):c.7480G>T (p.Val2494Leu) rs886044163
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp) rs398124134
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met) rs1446344528
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly) rs749651818
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu) rs2077056501
NM_004369.4(COL6A3):c.7586C>T (p.Ala2529Val)
NM_004369.4(COL6A3):c.7587T>C (p.Ala2529=) rs1559206457
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn) rs201283466
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr) rs2106324714
NM_004369.4(COL6A3):c.7609G>C (p.Gly2537Arg)
NM_004369.4(COL6A3):c.7611G>A (p.Gly2537=) rs145868338
NM_004369.4(COL6A3):c.7616C>T (p.Thr2539Ile) rs2077055134
NM_004369.4(COL6A3):c.7626C>A (p.Phe2542Leu)
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=) rs151079701
NM_004369.4(COL6A3):c.7655T>A (p.Ile2552Asn)
NM_004369.4(COL6A3):c.7668+5G>C
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His) rs1553547891
NM_004369.4(COL6A3):c.7669-3C>T rs763071900
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg) rs780964113
NM_004369.4(COL6A3):c.7695G>T (p.Ala2565=) rs200456255
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile) rs1559203170
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln) rs2077000191
NM_004369.4(COL6A3):c.7706C>G (p.Pro2569Arg) rs794727598
NM_004369.4(COL6A3):c.7728C>T (p.Asp2576=) rs886043891
NM_004369.4(COL6A3):c.7754A>G (p.His2585Arg) rs886043033
NM_004369.4(COL6A3):c.7765+17A>G rs761150742
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu) rs1553546746
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
NM_004369.4(COL6A3):c.77A>C (p.Gln26Pro)
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg) rs1381568881
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu) rs114806654
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn) rs145884404
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
NM_004369.4(COL6A3):c.787G>C (p.Asp263His)
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
NM_004369.4(COL6A3):c.7908T>C (p.Asn2636=) rs886044691
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr) rs2106320038
NM_004369.4(COL6A3):c.7924A>G (p.Ile2642Val)
NM_004369.4(COL6A3):c.7927G>T (p.Ala2643Ser)
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu) rs1419214464
NM_004369.4(COL6A3):c.7937T>C (p.Val2646Ala) rs1559201211
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.4(COL6A3):c.7949A>G (p.Asp2650Gly) rs1553546590
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro) rs1192265506
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr) rs1559201034
NM_004369.4(COL6A3):c.7993G>T (p.Ala2665Ser) rs1559201034
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
NM_004369.4(COL6A3):c.8003A>G (p.Gln2668Arg) rs2106319884
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
NM_004369.4(COL6A3):c.8014_8016dup (p.Ser2672_Glu2673insSer)
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg) rs761740861
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln) rs886055803
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)
NM_004369.4(COL6A3):c.808G>C (p.Glu270Gln)
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val) rs957705259
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe) rs1031349800
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn) rs763974888
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr) rs763974888
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
NM_004369.4(COL6A3):c.8161T>G (p.Tyr2721Asp) rs886044361
NM_004369.4(COL6A3):c.8189C>T (p.Ala2730Val) rs138466455
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp) rs756868781
NM_004369.4(COL6A3):c.8218G>C (p.Val2740Leu) rs754870088
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys) rs144130137
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val) rs770586429
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro) rs2076967534
NM_004369.4(COL6A3):c.8278C>G (p.Leu2760Val)
NM_004369.4(COL6A3):c.8291G>A (p.Cys2764Tyr)
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.4(COL6A3):c.8327G>A (p.Arg2776Lys)
NM_004369.4(COL6A3):c.8337C>A (p.Asn2779Lys) rs1338421880
NM_004369.4(COL6A3):c.8341A>G (p.Lys2781Glu) rs2076965280
NM_004369.4(COL6A3):c.8344G>A (p.Glu2782Lys) rs794727603
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe) rs2106319405
NM_004369.4(COL6A3):c.8384T>C (p.Phe2795Ser)
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu) rs2106319353
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
NM_004369.4(COL6A3):c.8397C>T (p.Asp2799=) rs1553546085
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)
NM_004369.4(COL6A3):c.8411T>C (p.Leu2804Pro) rs1553546077
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp) rs1553546042
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
NM_004369.4(COL6A3):c.8478T>G (p.Phe2826Leu)
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
NM_004369.4(COL6A3):c.8506T>C (p.Cys2836Arg) rs1553545646
NM_004369.4(COL6A3):c.8513G>C (p.Trp2838Ser) rs1272949216
NM_004369.4(COL6A3):c.8515T>A (p.Phe2839Ile)
NM_004369.4(COL6A3):c.8519A>C (p.Gln2840Pro)
NM_004369.4(COL6A3):c.8549A>G (p.Lys2850Arg)
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
NM_004369.4(COL6A3):c.8575C>A (p.Pro2859Thr) rs886042577
NM_004369.4(COL6A3):c.8579A>G (p.Asn2860Ser)
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
NM_004369.4(COL6A3):c.8611G>A (p.Val2871Met)
NM_004369.4(COL6A3):c.861C>T (p.Ser287=) rs756380512
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1]) rs780678900
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3]) rs1167608831
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser) rs1553544899
NM_004369.4(COL6A3):c.8665C>A (p.Pro2889Thr)
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
NM_004369.4(COL6A3):c.8680A>G (p.Thr2894Ala)
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu) rs1553544853
NM_004369.4(COL6A3):c.8698A>G (p.Ile2900Val) rs1553544853
NM_004369.4(COL6A3):c.870C>G (p.Pro290=) rs1574740624
NM_004369.4(COL6A3):c.8723C>G (p.Ala2908Gly)
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His) rs1559194476
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp) rs1455583519
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser) rs2106314453
NM_004369.4(COL6A3):c.8781G>T (p.Met2927Ile)
NM_004369.4(COL6A3):c.8782G>A (p.Ala2928Thr)
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala) rs1700542767
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr) rs1361910233
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
NM_004369.4(COL6A3):c.87A>T (p.Gln29His) rs775946239
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly) rs1440572476
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu) rs36020669
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg) rs1700539745
NM_004369.4(COL6A3):c.8833G>A (p.Val2945Ile)
NM_004369.4(COL6A3):c.8834T>A (p.Val2945Glu) rs2106314327
NM_004369.4(COL6A3):c.8836G>A (p.Ala2946Thr)
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser) rs1700538106
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr) rs773820329
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup) rs35879189
NM_004369.4(COL6A3):c.8869G>A (p.Ala2957Thr)
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val) rs1287394484
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
NM_004369.4(COL6A3):c.8875G>T (p.Ala2959Ser) rs774645319
NM_004369.4(COL6A3):c.8883del (p.Lys2961fs)
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser) rs1256198664
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
NM_004369.4(COL6A3):c.892A>G (p.Thr298Ala)
NM_004369.4(COL6A3):c.8930C>T (p.Pro2977Leu) rs1162901275
NM_004369.4(COL6A3):c.8939C>T (p.Thr2980Ile)
NM_004369.4(COL6A3):c.8945C>T (p.Pro2982Leu) rs1700531524
NM_004369.4(COL6A3):c.8965+9G>A
NM_004369.4(COL6A3):c.8966-3C>T
NM_004369.4(COL6A3):c.8972T>A (p.Met2991Lys)
NM_004369.4(COL6A3):c.8974T>A (p.Ser2992Thr) rs886042804
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr) rs1559270845
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
NM_004369.4(COL6A3):c.898_900del (p.Ser300del) rs554176183
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser) rs1187707448
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
NM_004369.4(COL6A3):c.9029A>T (p.Glu3010Val)
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del) rs756150789
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro) rs1700446197
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val) rs1299012840
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu) rs1553544136
NM_004369.4(COL6A3):c.9096G>C (p.Leu3032=) rs147327623
NM_004369.4(COL6A3):c.91+4A>G
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile) rs564041158
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
NM_004369.4(COL6A3):c.9152G>C (p.Gly3051Ala)
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=) rs1253951128
NM_004369.4(COL6A3):c.9201A>C (p.Arg3067Ser)
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
NM_004369.4(COL6A3):c.9229+4_9229+7del
NM_004369.4(COL6A3):c.9230-4A>G rs1559190144
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser) rs1700374826
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu) rs182976977
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile) rs1700373011
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln) rs1288932366
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
NM_004369.4(COL6A3):c.9328+3G>A
NM_004369.4(COL6A3):c.9329-14T>A
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val) rs781284019
NM_004369.4(COL6A3):c.9330T>A (p.Asp3110Glu) rs1057524148
NM_004369.4(COL6A3):c.9332T>C (p.Ile3111Thr)
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn) rs2078191004
NM_004369.4(COL6A3):c.974C>T (p.Ala325Val)
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr) rs2078190150
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.