ClinVar Miner

List of variants reported as uncertain significance for Bethlem myopathy

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3148
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
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_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_004369.4(COL6A3):c.9494-2A>G rs142546062 0.00026
NM_001848.3(COL6A1):c.957+6C>T rs374926748 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met) rs144976132 0.00019
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile) rs371386355 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671 0.00016
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009 0.00015
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.6868C>T (p.Arg2290Cys) rs116608946 0.00013
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn) rs146872525 0.00013
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.1332+3G>A rs201007156 0.00010
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208 0.00010
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956 0.00009
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu) rs754916465 0.00009
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys) rs199684959 0.00009
NM_001848.3(COL6A1):c.1777-3C>T rs111263341 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928 0.00008
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=) rs754900547 0.00007
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile) rs886044270 0.00007
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg) rs540867293 0.00007
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys) rs751779784 0.00006
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001849.4(COL6A2):c.1053+6G>A rs373181368 0.00006
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=) rs746727003 0.00006
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln) rs368588676 0.00006
NM_001849.4(COL6A2):c.2422+6C>T rs371950486 0.00006
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703 0.00006
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser) rs750027302 0.00006
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) rs544436881 0.00006
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val) rs778458923 0.00006
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu) rs372281922 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.7558A>T (p.Thr2520Ser) rs144152285 0.00006
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro) rs373259425 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7698-3C>T rs760246080 0.00006
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser) rs11701912 0.00005
NM_001849.4(COL6A2):c.116-3C>T rs767597831 0.00005
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603 0.00005
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652 0.00005
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys) rs374196682 0.00005
NM_001849.4(COL6A2):c.638G>A (p.Arg213His) rs368064647 0.00005
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu) rs754323567 0.00005
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys) rs144451523 0.00005
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 0.00005
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_001848.3(COL6A1):c.1236+5G>A rs376327142 0.00004
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln) rs761729281 0.00004
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu) rs746962124 0.00004
NM_001848.3(COL6A1):c.1461+4A>G rs201372759 0.00004
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn) rs1372696070 0.00004
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943 0.00004
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=) rs772673965 0.00004
NM_001848.3(COL6A1):c.903+4C>T rs200380846 0.00004
NM_001848.3(COL6A1):c.96G>A (p.Gln32=) rs754988212 0.00004
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg) rs768681228 0.00004
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679 0.00004
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys) rs776748046 0.00004
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln) rs768933697 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His) rs145140058 0.00004
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294 0.00004
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His) rs554257211 0.00004
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952 0.00004
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp) rs201470058 0.00004
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val) rs747347320 0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His) rs373782637 0.00004
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser) rs745678446 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004369.4(COL6A3):c.3070+6G>A rs761124398 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.3741G>C (p.Glu1247Asp) rs577927810 0.00004
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg) rs150321587 0.00004
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn) rs762035107 0.00004
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser) rs771489087 0.00004
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln) rs145561490 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.2164+6A>T rs746467248 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val) rs944222774 0.00004
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile) rs374525546 0.00004
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile) rs772992461 0.00004
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428 0.00004
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His) rs748487098 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala) rs760315104 0.00004
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219 0.00004
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=) rs751540913 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 0.00004
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser) rs747966606 0.00004
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522 0.00004
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser) rs772870762 0.00004
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr) rs773855825 0.00004
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val) rs1199162597 0.00004
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634 0.00004
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser) rs201153092 0.00003
NM_001848.3(COL6A1):c.1957-10G>A rs761863286 0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys) rs375318905 0.00003
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe) rs752045107 0.00003
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val) rs565089447 0.00003
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln) rs747093518 0.00003
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser) rs375694341 0.00003
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=) rs150999832 0.00003
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile) rs7283272 0.00003
NM_001849.4(COL6A2):c.1969+4A>C rs775997945 0.00003
NM_001849.4(COL6A2):c.1969+6C>T rs374669895 0.00003
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala) rs774611719 0.00003
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys) rs748592288 0.00003
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495 0.00003
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198 0.00003
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756 0.00003
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr) rs376173871 0.00003
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met) rs367980010 0.00003
NM_001849.4(COL6A2):c.284G>A (p.Arg95His) rs886042690 0.00003
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg) rs113509166 0.00003
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg) rs886044068 0.00003
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys) rs770150581 0.00003
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu) rs745566911 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.2993C>T (p.Ser998Leu) rs774161895 0.00003
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu) rs371991808 0.00003
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser) rs753056634 0.00003
NM_004369.4(COL6A3):c.3679+4C>T rs774411894 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser) rs747965230 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.5326G>T (p.Val1776Phe) rs754788931 0.00003
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val) rs201539582 0.00003
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) rs113331139 0.00003
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 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.7768A>G (p.Ile2590Val) rs372278071 0.00003
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966 0.00003
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu) rs199503279 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00003
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927 0.00003
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=) rs775579405 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=) rs900917198 0.00003
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe) rs1179596064 0.00002
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met) rs1404246917 0.00002
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527 0.00002
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg) rs202109302 0.00002
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu) rs766478019 0.00002
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser) rs780264446 0.00002
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met) rs764765574 0.00002
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val) rs886044481 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313 0.00002
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637 0.00002
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala) rs773528946 0.00002
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=) rs752255976 0.00002
NM_001849.4(COL6A2):c.1270-3C>T rs1488223613 0.00002
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu) rs1252515693 0.00002
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639 0.00002
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys) rs771658013 0.00002
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg) rs757603350 0.00002
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro) rs990733473 0.00002
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp) rs752366811 0.00002
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) rs564873527 0.00002
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys) rs200709432 0.00002
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu) rs199736749 0.00002
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu) rs768417049 0.00002
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly) rs11554668 0.00002
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp) rs373184224 0.00002
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met) rs752700701 0.00002
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) rs762263982 0.00002
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser) rs769456044 0.00002
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln) rs376291264 0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys) rs760263812 0.00002
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu) rs757488307 0.00002
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr) rs1174559820 0.00002
NM_004369.4(COL6A3):c.1897+3A>G rs369549597 0.00002
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln) rs762016120 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 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.4979G>A (p.Arg1660His) rs982703428 0.00002
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr) rs1034783532 0.00002
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 0.00002
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser) rs770876436 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.6210C>T (p.Pro2070=) rs774374140 0.00002
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr) rs374476448 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.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.8432G>A (p.Arg2811His) rs769656291 0.00002
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr) rs905662421 0.00002
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr) rs1223531902 0.00002
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn) rs759182254 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 0.00002
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121 0.00002
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser) rs932009209 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.2984-2A>G rs760316411 0.00002
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly) rs1385334403 0.00002
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189 0.00002
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr) rs757943935 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser) rs750263276 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00002
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr) rs1228621705 0.00002
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg) rs781184043 0.00002
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr) rs780457606 0.00002
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904 0.00002
NM_001848.3(COL6A1):c.1002+6T>C rs13052179 0.00001
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr) rs2077773578 0.00001
NM_001848.3(COL6A1):c.1182+5G>C rs1473206283 0.00001
NM_001848.3(COL6A1):c.1236+3G>A rs968780030 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876 0.00001
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser) rs2077714741 0.00001
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser) rs1235742792 0.00001
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly) rs2077813854 0.00001
NM_001848.3(COL6A1):c.1575+4A>G rs1306019240 0.00001
NM_001848.3(COL6A1):c.1575+6T>C rs745511169 0.00001
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys) rs2077819024 0.00001
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser) rs771012175 0.00001
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521 0.00001
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys) rs887316220 0.00001
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385 0.00001
NM_001848.3(COL6A1):c.1740+3G>C rs1314703448 0.00001
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala) rs1462355816 0.00001
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe) rs368925441 0.00001
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=) rs750677675 0.00001
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly) rs1255698056 0.00001
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281 0.00001
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg) rs1297620940 0.00001
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser) rs750677189 0.00001
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro) rs2077725343 0.00001
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr) rs1258934082 0.00001
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys) rs1305504243 0.00001
NM_001848.3(COL6A1):c.903+5G>A rs759468291 0.00001
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser) rs2078489585 0.00001
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser) rs1218992420 0.00001
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys) rs1473389233 0.00001
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=) rs762160379 0.00001
NM_001849.4(COL6A2):c.1117-3C>T rs772428654 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494 0.00001
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr) rs760573983 0.00001
NM_001849.4(COL6A2):c.12C>T (p.Gly4=) rs568730672 0.00001
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys) rs781742477 0.00001
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr) rs144735844 0.00001
NM_001849.4(COL6A2):c.1395+6G>A rs886042454 0.00001
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln) rs746541506 0.00001
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453 0.00001
NM_001849.4(COL6A2):c.1458+3C>T rs794727186 0.00001
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe) rs755539822 0.00001
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser) rs553174831 0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1521+5G>A rs760353646 0.00001
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226 0.00001
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=) rs552356380 0.00001
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser) rs1307667500 0.00001
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val) rs376303610 0.00001
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804 0.00001
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442 0.00001
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg) rs917875281 0.00001
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala) rs1487977724 0.00001
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr) rs1420375071 0.00001
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=) rs778401356 0.00001
NM_001849.4(COL6A2):c.1817-7_1817-6insA rs759572010 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr) rs766374821 0.00001
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala) rs760227367 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys) rs139627965 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His) rs749451502 0.00001
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn) rs1348937334 0.00001
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val) rs761863452 0.00001
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu) rs750009012 0.00001
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser) rs773338647 0.00001
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro) rs982360912 0.00001
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) rs727502834 0.00001
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=) rs774494973 0.00001
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser) rs1044778936 0.00001
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala) rs886044025 0.00001
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu) rs775748752 0.00001
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr) rs11554667 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835 0.00001
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys) rs932129947 0.00001
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=) rs377389081 0.00001
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys) rs775590810 0.00001
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp) rs752291709 0.00001
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser) rs780908409 0.00001
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser) rs1228163562 0.00001
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) rs771341779 0.00001
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn) rs773974101 0.00001
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val) rs201842315 0.00001
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser) rs1337272208 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922 0.00001
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr) rs777494468 0.00001
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser) rs370593484 0.00001
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val) rs754518986 0.00001
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu) rs1555877365 0.00001
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn) rs750682710 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His) rs751512548 0.00001
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=) rs751470018 0.00001
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp) rs776732203 0.00001
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn) rs969934621 0.00001
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys) rs557545831 0.00001
NM_001849.4(COL6A2):c.389G>A (p.Arg130His) rs200387819 0.00001
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val) rs886044462 0.00001
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr) rs1454146707 0.00001
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile) rs886044102 0.00001
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys) rs766523982 0.00001
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg) rs751632108 0.00001
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn) rs776631856 0.00001
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp) rs779287707 0.00001
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505 0.00001
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile) rs752359061 0.00001
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu) rs777108595 0.00001
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys) rs1159588931 0.00001
NM_001849.4(COL6A2):c.901-3C>T rs112317259 0.00001
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn) rs759838639 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 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.1075A>G (p.Ser359Gly) rs114235473 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.1380C>G (p.Asn460Lys) rs779588195 0.00001
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215 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.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.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.1759G>T (p.Ala587Ser) rs2077990679 0.00001
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn) rs886043408 0.00001
NM_004369.4(COL6A3):c.1897+6G>A rs1189511183 0.00001
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu) rs1347014329 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.2284G>A (p.Ala762Thr) rs759150949 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.2397G>A (p.Met799Ile) rs768905903 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.2722A>T (p.Ile908Phe) rs1370199768 0.00001
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp) rs149310819 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.2895G>T (p.Gln965His) rs775993027 0.00001
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser) rs1226873582 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.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.3272T>A (p.Val1091Asp) rs745854120 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.3569C>A (p.Thr1190Asn) rs369994205 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.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn) rs563617159 0.00001
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127 0.00001
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu) rs372089952 0.00001
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr) rs35799634 0.00001
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala) rs1480888719 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.4306G>C (p.Asp1436His) rs1168273415 0.00001
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His) rs115765346 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.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.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.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.5642G>A (p.Arg1881His) rs748330667 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.575C>T (p.Pro192Leu) rs563800854 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala) rs1293700251 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.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.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.6309+4T>G rs1421626951 0.00001
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp) rs1235042491 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.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.6677C>T (p.Thr2226Ile) rs376621780 0.00001
NM_004369.4(COL6A3):c.6691-3C>T rs757686067 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.6890G>C (p.Gly2297Ala) rs886043576 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.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.7224C>G (p.Asp2408Glu) rs377084627 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.7364C>A (p.Thr2455Asn) rs1269973980 0.00001
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met) rs747074064 0.00001
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg) rs1445471566 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.7676A>G (p.Asn2559Ser) rs1009561726 0.00001
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu) rs886055804 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.7976A>G (p.Gln2659Arg) rs886044041 0.00001
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe) rs572430889 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.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.8422C>T (p.Pro2808Ser) rs1335582737 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.8498G>A (p.Arg2833Lys) rs755510736 0.00001
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu) rs1296360526 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.8966-6T>C rs756239147 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.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.9290T>C (p.Leu3097Pro) rs886042363 0.00001
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys) rs755613566 0.00001
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser) rs1699901008 0.00001
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=) rs1215789317 0.00001
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515 0.00001
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg) rs781141962 0.00001
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile) rs780955667 0.00001
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val) rs780247302 0.00001
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys) rs1769480073 0.00001
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile) rs922525519 0.00001
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg) rs1210901422 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala) rs1310849098 0.00001
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys) rs970722197 0.00001
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_004370.6(COL12A1):c.1289-3C>T rs375570066 0.00001
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser) rs771816024 0.00001
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile) rs368199250 0.00001
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu) rs770461984 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly) rs1445434863 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086 0.00001
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr) rs1292052246 0.00001
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys) rs1440470491 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile) rs758637945 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln) rs1478514196 0.00001
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413 0.00001
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe) rs1031869609 0.00001
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met) rs749609293 0.00001
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala) rs758201181 0.00001
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe) rs756368336 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile) rs1318884120 0.00001
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn) rs1198986280 0.00001
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=) rs370677855 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp) rs931765391 0.00001
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala) rs941358850 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu) rs368537733 0.00001
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu) rs375671490 0.00001
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met) rs780466316 0.00001
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu) rs539562135 0.00001
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319 0.00001
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly) rs371518967 0.00001
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085 0.00001
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val) rs774904567 0.00001
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His) rs1768261055 0.00001
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His) rs370188326 0.00001
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His) rs1477957297 0.00001
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser) rs944768236 0.00001
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720 0.00001
NM_004370.6(COL12A1):c.2984-3C>T rs1394199507 0.00001
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys) rs774087407 0.00001
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys) rs760621245 0.00001
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883 0.00001
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile) rs1376226675 0.00001
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala) rs1767720355 0.00001
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys) rs1337121359 0.00001
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp) rs749832842 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu) rs753747530 0.00001
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn) rs1003693918 0.00001
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu) rs990441297 0.00001
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748 0.00001
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met) rs1305647848 0.00001
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile) rs751811370 0.00001
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270 0.00001
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp) rs1183950908 0.00001
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val) rs1056626609 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val) rs1353013260 0.00001
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser) rs1220345277 0.00001
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val) rs1267769116 0.00001
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu) rs763614780 0.00001
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile) rs767232468 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu) rs74383804 0.00001
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser) rs1044813586 0.00001
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn) rs780006734 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln) rs775117257 0.00001
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val) rs1172593477 0.00001
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu) rs751657895 0.00001
NM_004370.6(COL12A1):c.511G>C (p.Asp171His) rs748076280 0.00001
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile) rs370108747 0.00001
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser) rs1329724602 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.5251+4A>G rs781348212 0.00001
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys) rs374747725 0.00001
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile) rs201205563 0.00001
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784 0.00001
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865 0.00001
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604 0.00001
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926 0.00001
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser) rs749681990 0.00001
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr) rs1479368774 0.00001
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg) rs371970739 0.00001
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala) rs750426294 0.00001
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile) rs1239883407 0.00001
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly) rs1370422060 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362 0.00001
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr) rs1162295476 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 0.00001
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu) rs1179773170 0.00001
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His) rs1769820873 0.00001
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met) rs376487916 0.00001
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616 0.00001
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met) rs181357263 0.00001
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro) rs1023244422 0.00001
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu) rs373325814 0.00001
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930 0.00001
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln) rs1769819268 0.00001
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu) rs1366573056 0.00001
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val) rs1339963289 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461 0.00001
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro) rs1298620930 0.00001
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile) rs1158867383 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met) rs1434449708 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys) rs1233096096 0.00001
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val) rs372896052 0.00001
NM_004370.6(COL12A1):c.7210+4T>G rs201950823 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.747G>A (p.Thr249=) rs553802363 0.00001
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala) rs770874037 0.00001
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963 0.00001
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val) rs780133855 0.00001
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu) rs775522044 0.00001
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg) rs770613686 0.00001
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val) rs781269301 0.00001
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly) rs1263587165 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr) rs767580803 0.00001
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys) rs1384761865 0.00001
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile) rs775684324 0.00001
NM_004370.6(COL12A1):c.7950+9A>G rs778327157 0.00001
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 0.00001
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly) rs1011310040 0.00001
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579 0.00001
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly) rs368105517 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser) rs376931672 0.00001
NM_004370.6(COL12A1):c.8524-3T>C rs755782718 0.00001
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155 0.00001
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr) rs1427337137 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile) rs1273649550 0.00001
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492 0.00001
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser) rs1216270127 0.00001
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu) rs771010070 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln) rs778638053 0.00001
NM_004370.6(COL12A1):c.997+6T>C rs377225744 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
NC_000002.11:g.(?_237481970)_(238305480_?)dup
NC_000002.11:g.(?_238233407)_(238305470_?)dup
NC_000002.11:g.(?_238233417)_(238428692_?)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.(?_236573327)_(237388194_?)dup
NC_000002.12:g.(?_237333450)_(237334889_?)del
NC_000006.11:g.(?_75796253)_(75855181_?)del
NC_000006.11:g.(?_75796263)_(75813546_?)dup
NC_000006.11:g.(?_75806949)_(75807042_?)del
NC_000006.11:g.(?_75833644)_(75847315_?)del
NC_000006.11:g.(?_75858054)_(75912508_?)dup
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NC_000021.8:g.(?_47400663)_(47425963_?)dup
NC_000021.8:g.(?_47401745)_(47532511_?)dup
NC_000021.8:g.(?_47401755)_(47546465_?)dup
NC_000021.8:g.(?_47410282)_(47410965_?)dup
NC_000021.8:g.(?_47410677)_(47410965_?)dup
NC_000021.8:g.(?_47417315)_(47423927_?)dup
NC_000021.8:g.(?_47423046)_(47429562_?)del
NC_000021.8:g.(?_47517033)_(47553763_?)dup
NC_000021.8:g.(?_47518024)_47552476dup
NC_000021.8:g.(?_47536545)_(47536748_?)dup
NC_000021.8:g.(?_47551858)_(47552476_?)dup
NC_000021.9:g.(?_45981831)_(46004033_?)dup
NC_000021.9:g.(?_46111467)_(46112834_?)dup
NC_000021.9:g.(?_46113998)_(46116063_?)dup
NM_001848.2(COL6A1):c.1568_1575+1dup rs2077817384
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA rs2077768137
NM_001848.3(COL6A1):c.1002+6_1002+89del
NM_001848.3(COL6A1):c.1002+6_1003-135del rs2123472135
NM_001848.3(COL6A1):c.1003-3C>G rs1171069767
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del) rs398123630
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg) rs1569518250
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp) rs142882745
NM_001848.3(COL6A1):c.1056+4A>C rs886043433
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr) rs762443936
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr) rs1603589147
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln) rs144677931
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr) rs2123474648
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala) rs2123474665
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=) rs1423443362
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr) rs983326119
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp) rs772775334
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001848.3(COL6A1):c.1236+5G>C rs376327142
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=) rs1245856941
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336
NM_001848.3(COL6A1):c.1272+3G>A rs2123475120
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser) rs2077783907
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
NM_001848.3(COL6A1):c.1335+3G>A
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys) rs762989478
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe) rs375452881
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys) rs1235513102
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg) rs766667205
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp) rs117340427
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915
NM_001848.3(COL6A1):c.14G>A (p.Arg5His) rs1556423460
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser) rs2123482543
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser) rs2123483067
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu) rs2077817452
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT rs758434455
NM_001848.3(COL6A1):c.1575+2dup rs758434455
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys) rs200023632
NM_001848.3(COL6A1):c.1612-3C>T rs767913216
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg) rs1603593300
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr) rs1397088680
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg) rs2077822326
NM_001848.3(COL6A1):c.1659_1667dup (p.Pro555_Asp557dup) rs2123484082
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
NM_001848.3(COL6A1):c.1674+3_1674+6del
NM_001848.3(COL6A1):c.1675-5T>G
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr) rs775182845
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp) rs755214430
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg) rs1359915404
NM_001848.3(COL6A1):c.1740+3G>A
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu) rs1188795991
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
NM_001848.3(COL6A1):c.178G>T (p.Asp60Tyr) rs2123460260
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
NM_001848.3(COL6A1):c.1813+3_1813+6del
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA rs2077839436
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val) rs1222901174
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe) rs1423091612
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu) rs150938324
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly) rs1603589342
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu) rs552239546
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu) rs112104768
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu) rs1260709010
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu) rs2123459059
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu) rs373731596
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg) rs2123490353
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val) rs2123490392
NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn)
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup) rs2123490613
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
NM_001848.3(COL6A1):c.2251-11_2251-8del
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=) rs1434098396
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr) rs2077853664
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu) rs1203093809
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer) rs2077854422
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC rs2123491106
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT rs1569519146
NM_001848.3(COL6A1):c.2434+14_2434+15inv
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC rs2123491242
NM_001848.3(COL6A1):c.2434+4C>T rs202147670
NM_001848.3(COL6A1):c.2434+5G>T rs1360722232
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln) rs2123491909
NM_001848.3(COL6A1):c.2464+1G>A rs113290209
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val) rs1486288129
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro) rs2077862405
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met) rs1226903258
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly) rs766517983
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del) rs2123492948
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del) rs886043457
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr) rs1569519253
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val) rs1316734507
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp) rs1603595132
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys) rs201456885
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln) rs1180948133
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs) rs766289958
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn) rs1603589594
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val) rs1300015385
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr) rs1454397058
NM_001848.3(COL6A1):c.424G>A (p.Val142Met) rs144282452
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
NM_001848.3(COL6A1):c.428+5G>A rs1603589628
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val) rs2077739763
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg) rs980266782
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala) rs1309872535
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val) rs1385535913
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr) rs2077740453
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr) rs1556424938
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala) rs766184155
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val) rs1273238821
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr) rs2077740811
NM_001848.3(COL6A1):c.588+12_588+13delinsTA rs2123466169
NM_001848.3(COL6A1):c.589-3C>T rs1288681930
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu) rs780638665
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr) rs2077743440
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn) rs2123466789
NM_001848.3(COL6A1):c.717+9C>G
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
NM_001848.3(COL6A1):c.720A>G (p.Lys240=) rs147612667
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
NM_001848.3(COL6A1):c.760-3C>T
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr) rs2077747487
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
NM_001848.3(COL6A1):c.858+5G>A rs2123470416
NM_001848.3(COL6A1):c.858+5G>T
NM_001848.3(COL6A1):c.85G>A (p.Val29Met) rs766057159
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala) rs777764932
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
NM_001848.3(COL6A1):c.894G>C (p.Gln298His) rs371989252
NM_001848.3(COL6A1):c.904-10G>A rs794727027
NM_001848.3(COL6A1):c.904-39A>T rs1569518138
NM_001848.3(COL6A1):c.904-3T>G
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val) rs2077763346
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
NM_001848.3(COL6A1):c.930+20G>A
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val) rs1556425679
NM_001848.3(COL6A1):c.957+4A>T
NM_001848.3(COL6A1):c.958-3_958-2del
NM_001848.3(COL6A1):c.98-6G>A rs886042599
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
NM_001849.3(COL6A2):c.-91_3071dup
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg) rs2123631275
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg) rs2078490056
NM_001849.4(COL6A2):c.1046_1053+1del
NM_001849.4(COL6A2):c.1053+3A>T rs1555873388
NM_001849.4(COL6A2):c.1053+4dup
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val) rs2078500027
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val) rs1601229481
NM_001849.4(COL6A2):c.1116+6T>G
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg) rs753834270
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1]) rs2123635719
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser) rs2078399168
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
NM_001849.4(COL6A2):c.115+6A>G rs886042882
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala) rs756966358
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly) rs1248584370
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu) rs371383704
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg) rs2123637568
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu) rs761030439
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys) rs761330909
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del) rs2078532600
NM_001849.4(COL6A2):c.1332+20C>T rs1222615509
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser) rs1269914621
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
NM_001849.4(COL6A2):c.1395+5G>C rs1373123496
NM_001849.4(COL6A2):c.1396-26_1396-10del rs1601237036
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn) rs1464567484
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala) rs2123614177
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His) rs1472257957
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp) rs2123645059
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
NM_001849.4(COL6A2):c.1458+3_1458+6del rs765084926
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His) rs2078559618
NM_001849.4(COL6A2):c.1459-5C>G rs1362389378
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly) rs727502829
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser) rs778917725
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del) rs2123646706
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
NM_001849.4(COL6A2):c.1521+4C>T rs886043036
NM_001849.4(COL6A2):c.1522-3C>T
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala) rs756315481
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His) rs2078576778
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly) rs769563817
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser) rs2078577021
NM_001849.4(COL6A2):c.1572+5G>A
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val) rs2123650884
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys) rs2123650926
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3]) rs773493556
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser) rs2078589816
NM_001849.4(COL6A2):c.1671+4_1671+7del rs2078589929
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=) rs2078589880
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr) rs1035008109
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser) rs1172190604
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg) rs2078631679
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser) rs2078397289
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu) rs2123658612
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr) rs779979272
NM_001849.4(COL6A2):c.1751_1770+24dup rs2078635959
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu) rs1568938716
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys) rs142709940
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro) rs147892526
NM_001849.4(COL6A2):c.1816+3G>A
NM_001849.4(COL6A2):c.1816+6G>A
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn) rs747602311
NM_001849.4(COL6A2):c.1817-16C>G
NM_001849.4(COL6A2):c.1817-2dup
NM_001849.4(COL6A2):c.1817-3C>A rs112645828
NM_001849.4(COL6A2):c.1817-3C>G rs112645828
NM_001849.4(COL6A2):c.1817-3C>T rs112645828
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn) rs2078648587
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr) rs2123662036
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala) rs141919484
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
NM_001849.4(COL6A2):c.1969+4A>G rs775997945
NM_001849.4(COL6A2):c.1970-14C>T rs749228434
NM_001849.4(COL6A2):c.1970-3C>T rs201879417
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) rs727502830
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met) rs2123663062
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe) rs2078406730
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp) rs564873527
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del) rs2078657129
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
NM_001849.4(COL6A2):c.2116G>A (p.Ala706Thr)
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro) rs2123663738
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val) rs1555875708
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met) rs2123663867
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly) rs2078660025
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr) rs2123664136
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp) rs2123664140
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
NM_001849.4(COL6A2):c.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His) rs2078662932
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser) rs1601251344
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met) rs1194893303
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro) rs75120695
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser) rs746466184
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn) rs1312736604
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.4(COL6A2):c.2423-3C>T
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
NM_001849.4(COL6A2):c.2462-3C>T rs766469768
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr) rs778134390
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro) rs2078765932
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg) rs2078765932
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
NM_001849.4(COL6A2):c.2497dup (p.Asp833fs)
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val) rs2078767000
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly) rs759689002
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.4(COL6A2):c.2568G>A (p.Val856=) rs2123454687
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla) rs753952104
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys) rs200488881
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys) rs865872231
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg) rs770956606
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
NM_001849.4(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn) rs112139050
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro) rs1290912034
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr) rs2123455277
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg) rs2123455354
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu) rs1426096612
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys) rs1321329142
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu) rs374384263
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del) rs2123455541
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu) rs2123455553
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup) rs775193167
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met) rs147670858
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro) rs2123455695
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn) rs373184224
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala) rs771847588
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser) rs201188174
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup) rs1568948073
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro) rs754429992
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup) rs762259160
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val) rs781544781
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His) rs2123456038
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=) rs6652
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu) rs1555877365
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del) rs750794022
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn) rs1601270126
NM_001849.4(COL6A2):c.300C>G (p.His100Gln) rs765941470
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del) rs2078776370
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys) rs2078776827
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg) rs1365013453
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile) rs2078397134
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr) rs982087527
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly) rs749711324
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn) rs1216448596
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del) rs2078413886
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu) rs376291264
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser) rs765361834
NM_001849.4(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr) rs2078398153
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met) rs760395633
NM_001849.4(COL6A2):c.626A>T (p.His209Leu) rs1413478268
NM_001849.4(COL6A2):c.627C>G (p.His209Gln) rs545218705
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met) rs773058625
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro) rs1208218678
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe) rs2078418524
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del) rs775693562
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
NM_001849.4(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
NM_001849.4(COL6A2):c.735+6T>C rs2078423797
NM_001849.4(COL6A2):c.736-6T>C
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile) rs2123612816
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
NM_001849.4(COL6A2):c.745G>A (p.Val249Met) rs1454103225
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln) rs753370790
NM_001849.4(COL6A2):c.801+2dup rs2123620848
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg) rs778546141
NM_001849.4(COL6A2):c.855+38_856-32del
NM_001849.4(COL6A2):c.856-24_856-10del
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu) rs2123626180
NM_001849.4(COL6A2):c.900+5G>A
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu) rs1472672400
NM_001849.4(COL6A2):c.927+5G>C
NM_001849.4(COL6A2):c.954+3A>G rs2123628260
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val) rs1444127463
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
NM_001849.4(COL6A2):c.999+6G>A
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn) rs2106378691
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=) rs886044426
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu) rs2106378611
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile) rs2106378544
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu) rs189772397
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
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.1204G>C (p.Val402Leu) rs746277006
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val) rs1559280207
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.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.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.1435C>A (p.Gln479Lys)
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly) rs2078001580
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.1507C>A (p.Pro503Thr)
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.1540A>G (p.Lys514Glu)
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.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.1688A>T (p.Asp563Val)
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val) rs765665120
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
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.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.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.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>T (p.Val650Phe)
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.2018A>G (p.Asn673Ser)
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.2036G>A (p.Gly679Asp) rs1325552568
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly) rs753741086
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.2084C>T (p.Thr695Ile)
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys) rs2106367135
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val) rs2106367128
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.2214G>T (p.Arg738Ser) rs1410013839
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.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.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.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.2452A>G (p.Thr818Ala) rs2106366553
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
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.2501G>A (p.Ser834Asn)
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu) rs1574716769
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.2621G>A (p.Arg874Gln)
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
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.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.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.2863C>T (p.Arg955Cys) rs886043736
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.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.2945A>C (p.Glu982Ala) rs2077857997
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met) rs145203676
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr) rs2077856364
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.3051C>G (p.His1017Gln)
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.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.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.3188A>C (p.Asp1063Ala) rs1238550268
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.3314C>T (p.Thr1105Ile)
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.3373G>A (p.Gly1125Arg) rs2106361269
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.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.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.3499A>T (p.Ile1167Phe) rs886042996
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.3584G>A (p.Gly1195Glu)
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys) rs2077777129
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>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.373A>T (p.Ile125Leu) rs368077444
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
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.3823C>G (p.Gln1275Glu) rs2077710026
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn) rs752309834
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile) rs2077709263
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.3892G>A (p.Ala1298Thr)
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met) rs899539198
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.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.4004G>C (p.Gly1335Ala)
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
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.4075C>A (p.Leu1359Ile) rs2077700902
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His) rs2106357056
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.4150A>G (p.Ser1384Gly)
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp) rs780669785
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser) rs764522621
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.4285+3G>A
NM_004369.4(COL6A3):c.4286-7T>G
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.4363A>G (p.Ile1455Val) rs2077624929
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln) rs2077624807
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.4415A>T (p.Lys1472Ile)
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys) rs2106353213
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
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.4496T>G (p.Val1499Gly)
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu) rs115551245
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp) rs2106353091
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
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.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.4603C>A (p.Arg1535Ser)
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr) rs1559279425
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu) rs375207869
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.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.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.4786G>T (p.Val1596Leu) rs886042267
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala) rs1559239279
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.4849G>T (p.Ala1617Ser) rs200433282
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val) rs1168631702
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.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.5002A>G (p.Thr1668Ala)
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe) rs1028347478
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.5086T>A (p.Phe1696Ile)
NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr)
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.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.5281G>A (p.Asp1761Asn)
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.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.5372C>A (p.Ser1791Tyr)
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.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.5534G>C (p.Gly1845Ala) rs747200439
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala) rs1559235183
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.5632_5633delinsCC (p.Ser1878Pro) rs1559234936
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
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.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.5765C>G (p.Pro1922Arg) rs1351246573
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys) rs1574987599
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.580A>G (p.Asn194Asp) rs2078384466
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.587A>G (p.His196Arg)
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
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.5900A>C (p.Glu1967Ala) rs773896666
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
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.6022C>G (p.Leu2008Val) rs1211265308
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
NM_004369.4(COL6A3):c.6063+5dup rs2077478134
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.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.6136A>G (p.Ile2046Val)
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
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.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+9_6210+19del
NM_004369.4(COL6A3):c.6211-11T>A
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.6245_6247del (p.Gln2082_Gly2083delinsArg)
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln) rs2106342223
NM_004369.4(COL6A3):c.6283-28A>G
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe) rs765213888
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln) rs79375816
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.4(COL6A3):c.6309+10C>G rs2077385627
NM_004369.4(COL6A3):c.6309+3A>T rs1553553327
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly)
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.6559G>C (p.Val2187Leu) rs2106339211
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.6619G>A (p.Gly2207Arg)
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr) rs398124129
NM_004369.4(COL6A3):c.6627+3G>A
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val) rs2106334478
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
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.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.6802C>T (p.Pro2268Ser)
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn) rs2077197570
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.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.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.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.7039G>A (p.Gly2347Arg) rs2106326911
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
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.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.716A>G (p.Asp239Gly) rs2078202028
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.7178C>T (p.Pro2393Leu)
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu) rs2078201961
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.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.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>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.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.7405C>T (p.Leu2469Phe)
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) rs1574948119
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.746G>A (p.Gly249Glu)
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
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.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.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.7699G>A (p.Val2567Ile) rs1559203170
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln) rs2077000191
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>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.7850A>G (p.Asp2617Gly)
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
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.7913T>C (p.Met2638Thr) rs2106320038
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu) rs1419214464
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro) rs1192265506
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr) rs1559201034
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg) rs761740861
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
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.8196C>G (p.Asn2732Lys)
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp) rs756868781
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.8308G>A (p.Val2770Met) rs886044644
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe) rs2106319405
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu) rs2106319353
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
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.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.8566G>A (p.Val2856Ile)
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
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.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu) rs1553544853
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.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.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.8868TGC[5] (p.Ala2960dup) rs35879189
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val) rs1287394484
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
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.8966-3C>T
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.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.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>T (p.Val305Phe)
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
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.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.9334T>C (p.Cys3112Arg)
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys) rs1699900051
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val) rs886042448
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val) rs1553541451
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)
NM_004369.4(COL6A3):c.9481del (p.Val3161fs)
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro) rs2106297671
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn) rs2078191004
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)
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr) rs2149467566
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met) rs2149467444
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile) rs1253680957
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln) rs2149467365
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr) rs779083996
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val) rs1032545730
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter) rs2149467117
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr) rs1325717704
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
NM_004370.6(COL12A1):c.125A>G (p.His42Arg) rs760445921
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn) rs2149466995
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val) rs2149466974
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn) rs1769466109
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu) rs1769450841
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met) rs1769449076
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val) rs2149466346
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln) rs779234808
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val) rs1769434215
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys) rs2149466133
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg) rs2149466076
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr) rs1770137078
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=) rs2149466030
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn) rs2149465941
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met) rs1769421436
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp) rs1769421051
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly) rs2149465853
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly) rs1002113974
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu) rs2149465802
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser) rs775466928
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu) rs2149465788
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val) rs1344964508
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn) rs2149465694
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr) rs2149465694
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala) rs1770135564
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly) rs1356178155
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met) rs962496340
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
NM_004370.6(COL12A1):c.1891+4A>C rs148292262
NM_004370.6(COL12A1):c.1891+6T>C
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser) rs952803259
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu) rs200315815
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
NM_004370.6(COL12A1):c.1921del (p.Ser641fs) rs2149462293
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala) rs1769262393
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=) rs2149462277
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu) rs2149479257
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala) rs2149462234
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs) rs1769258754
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val) rs1769258112
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys) rs2149462161
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser) rs1769255982
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn) rs1233438359
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val) rs2149461913
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro) rs1562315490
NM_004370.6(COL12A1):c.2164+6A>G rs746467248
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr) rs1769052023
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala) rs1769051365
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr) rs750973541
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys) rs2149457038
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter) rs1034315777
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val) rs1769044982
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe) rs2149456891
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala) rs2149456824
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp) rs2149456727
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu) rs2149456708
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile) rs1769035606
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr) rs772493333
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp) rs1769033719
NM_004370.6(COL12A1):c.2437+6G>A rs1769033413
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys) rs371428645
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly) rs1768877676
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala) rs1194621615
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val) rs1489423171
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu) rs2149452205
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu) rs2149452194
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu) rs2149452186
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val) rs2149452026
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu) rs777386471
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg) rs2149451801
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp) rs1768851120
NM_004370.6(COL12A1):c.2711-5T>G
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro) rs369193482
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile) rs1768259480
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu) rs370815575
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly) rs1768252416
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del) rs1768250668
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His) rs752812483
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=) rs1768247192
NM_004370.6(COL12A1):c.2983+1G>T
NM_004370.6(COL12A1):c.2983+2T>G
NM_004370.6(COL12A1):c.2983+3A>C
NM_004370.6(COL12A1):c.2983+3del
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe) rs1582147328
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys) rs1767775935
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr) rs1767775644
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala) rs1767774122
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys) rs2149424485
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg) rs2149424441
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile) rs1767764943
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly) rs2149424377
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu) rs772210650
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter) rs868543538
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys) rs2149424189
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu) rs2149423356
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys) rs1767727217
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe) rs2149423302
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn) rs2149423269
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln) rs2149423255
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp) rs1767721141
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala) rs1272550670
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His) rs2149423214
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
NM_004370.6(COL12A1):c.334+4A>T rs1769967046
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met) rs2149423183
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp) rs1420617553
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
NM_004370.6(COL12A1):c.3444-6T>G
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala) rs770692332
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro) rs1190415160
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
NM_004370.6(COL12A1):c.3565+1G>A
NM_004370.6(COL12A1):c.3566-8C>G rs201709757
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln) rs775382202
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr) rs2149417585
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
NM_004370.6(COL12A1):c.3835+3_3835+6del
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys) rs1387157172
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu) rs1489541121
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr) rs1769938135
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His) rs1769937627
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.394+3G>A
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val) rs557573017
NM_004370.6(COL12A1):c.4000+4C>T rs375772555
NM_004370.6(COL12A1):c.4001-11C>A
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val) rs2149415452
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala) rs1335085130
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn) rs1767469659
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn) rs913180274
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser) rs913180274
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met) rs745813975
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile) rs2149415231
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val) rs2149415217
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser) rs1268978531
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn) rs1033092764
NM_004370.6(COL12A1):c.4147+3A>G
NM_004370.6(COL12A1):c.4147+4A>T
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr) rs2149410743
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del) rs1767315080
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser) rs1767312990
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp) rs758640189
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser) rs779038394
NM_004370.6(COL12A1):c.4287+4A>T rs1767305838
NM_004370.6(COL12A1):c.4288-14A>G
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu) rs779064060
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu) rs1767273965
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr) rs1394611159
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys) rs897954123
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
NM_004370.6(COL12A1):c.4417+4A>G rs2149409130
NM_004370.6(COL12A1):c.4417+5G>A
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile) rs1767188215
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=) rs199901074
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys) rs1767180643
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
NM_004370.6(COL12A1):c.4560+8A>G
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu) rs556742432
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly) rs2149475927
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu) rs1226808307
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys) rs1767128506
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser) rs1028650601
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp) rs367865394
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=) rs1767120492
NM_004370.6(COL12A1):c.4690+5G>A rs1767120188
NM_004370.6(COL12A1):c.4691-8T>A
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser) rs2149402848
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly) rs1767009455
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro) rs373006852
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
NM_004370.6(COL12A1):c.4827+3A>G
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro) rs750511139
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile) rs368180489
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser) rs773883741
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
NM_004370.6(COL12A1):c.4954_4957+2dup
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
NM_004370.6(COL12A1):c.4957+11_4957+12inv
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp) rs1766760179
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu) rs1766757762
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala) rs2149475862
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys) rs1369964113
NM_004370.6(COL12A1):c.5097+6T>A
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val) rs2149475842
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn) rs1766737229
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser) rs530680231
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
NM_004370.6(COL12A1):c.5231-9_5231-8del
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr) rs2149394273
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro) rs748487098
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu) rs1766675850
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser) rs2149394149
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys) rs370767331
NM_004370.6(COL12A1):c.5394+5T>G
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
NM_004370.6(COL12A1):c.5395-10T>C
NM_004370.6(COL12A1):c.5395-14C>G
NM_004370.6(COL12A1):c.5395-17G>A
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu) rs754812998
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile) rs1769824140
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly) rs775456254
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys) rs374927144
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup) rs1766496347
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val) rs2149389596
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
NM_004370.6(COL12A1):c.5525-6T>A
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys) rs1769823295
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn) rs2149475753
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu) rs377417661
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly) rs773807635
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln) rs1242897212
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys) rs1766437313
NM_004370.6(COL12A1):c.5664+3A>G rs2149387981
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser) rs2149387327
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr) rs2149387306
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser) rs1766408982
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala) rs1766405494
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val) rs2149387143
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn) rs1766404958
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser) rs2149387040
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=) rs199632288
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile) rs2149385416
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn) rs2149385355
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr) rs2149385355
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys) rs920578725
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro) rs2149385256
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del) rs1766274789
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys) rs1766270191
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu) rs1013402934
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met) rs1766265495
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg) rs569212577
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr) rs1766227819
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser) rs1253942397
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys) rs769518059
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg) rs2149475605
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met) rs1766123299
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn) rs1403624483
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg) rs1766116749
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=) rs1766115548
NM_004370.6(COL12A1):c.6341-9T>A rs1562169801
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg) rs1766019017
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu) rs1769818108
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr) rs1766015017
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu) rs1277921609
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys) rs1469571574
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
NM_004370.6(COL12A1):c.6460+6G>A
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser) rs1582089703
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr) rs920759306
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys) rs2149375589
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
NM_004370.6(COL12A1):c.652A>G (p.Met218Val) rs2149475531
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg) rs756215547
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+6T>C
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu) rs773548520
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu) rs761964344
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser) rs2149374223
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile) rs1257364285
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe) rs1765905733
NM_004370.6(COL12A1):c.6724+6T>C
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg) rs2149373796
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr) rs2149373719
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala) rs1765885022
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu) rs1765882595
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys) rs2149372645
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg) rs780038146
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr) rs747966606
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del) rs745810321
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu) rs1765844509
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg) rs1302398240
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu) rs1765839616
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg) rs200443479
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His) rs1765722908
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr) rs1400495680
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala) rs1765717648
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile) rs1231345150
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.7086+4A>G
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val) rs2149366807
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
NM_004370.6(COL12A1):c.7210+3dup
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr) rs1769231502
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser) rs1290886066
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val) rs910431488
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly) rs1769229174
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala) rs1769227311
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met) rs1769226903
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
NM_004370.6(COL12A1):c.74-2A>T
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala) rs1769137471
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu) rs1470111741
NM_004370.6(COL12A1):c.7519+6T>C rs2149363457
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser) rs1468041100
NM_004370.6(COL12A1):c.7558+5G>A
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu) rs1769053374
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser) rs1168175119
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys) rs2149361441
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser) rs1769052516
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala) rs942074618
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His) rs1364305836
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His) rs1768945805
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys) rs1312651383
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val) rs375113182
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala) rs1768943469
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu) rs1428757896
NM_004370.6(COL12A1):c.7841-3C>T
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu) rs1194345062
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu) rs2149482865
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
NM_004370.6(COL12A1):c.7950+5A>T rs771300269
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe) rs1347122880
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln) rs1768709126
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His) rs1324430356
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met) rs536679905
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met) rs1167733175
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His) rs2149353031
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
NM_004370.6(COL12A1):c.8100+4A>T rs2149352934
NM_004370.6(COL12A1):c.8100+5G>T
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr) rs1768551206
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_004370.6(COL12A1):c.8178+6T>C
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=) rs1768547356
NM_004370.6(COL12A1):c.8179-17T>G
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg) rs1768494060
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.823+4G>A
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg)
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8266-8T>A
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr) rs1768418483
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr) rs1473515166
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val) rs1254845133
NM_004370.6(COL12A1):c.8319+5G>A
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp) rs1768363255
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu) rs1768363108
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys) rs1768362148
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser) rs1582050849
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp) rs1768358751
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp) rs1768356411
NM_004370.6(COL12A1):c.8415+2dup
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys) rs2149343509
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser) rs2149343047
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
NM_004370.6(COL12A1):c.8524-3T>G
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg) rs574147225
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=) rs1768087709
NM_004370.6(COL12A1):c.8578-6T>G
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala) rs2149333527
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=) rs1767942315
NM_004370.6(COL12A1):c.8649+6C>T rs1037107431
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=) rs900917198
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly) rs1767765917
NM_004370.6(COL12A1):c.8685+1G>A
NM_004370.6(COL12A1):c.8685+3A>G
NM_004370.6(COL12A1):c.8685+4T>C
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr) rs1319038184
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8752+5A>C
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile) rs1767695881
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly) rs1769748525
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp) rs760317754
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu) rs369768310
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln) rs1767686939
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr) rs1310755474
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr) rs1404705545
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe) rs1767642437
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys) rs1767642101
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val) rs763589676
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+2T>C
NM_004370.6(COL12A1):c.9010+4G>C rs2149325295
NM_004370.6(COL12A1):c.9010+5G>A
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile) rs1767574420
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile) rs1767573014
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro) rs1307746550
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser) rs560180665
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu) rs1767570608
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu) rs1767566470
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly) rs2149322777
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val) rs1769746949
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
NM_004370.6(COL12A1):c.9181+4C>G
NM_004370.6(COL12A1):c.9181+5G>A
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val) rs1442527803
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe) rs370040853
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn) rs1769743212
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.997+2T>C
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)

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