ClinVar Miner

List of variants in gene COL12A1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 491
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131 0.00125
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173 0.00072
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594 0.00063
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552 0.00061
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701 0.00048
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00047
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00045
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681 0.00042
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285 0.00041
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449 0.00040
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202 0.00034
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784 0.00033
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277 0.00033
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424 0.00026
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys) rs562076616 0.00026
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg) rs373739940 0.00024
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_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00023
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala) rs200034130 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn) rs185615367 0.00019
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00016
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576 0.00016
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met) rs200443479 0.00016
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys) rs768052470 0.00015
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009 0.00015
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr) rs199654252 0.00015
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser) rs200901687 0.00015
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474 0.00013
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg) rs199692759 0.00012
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala) rs777544552 0.00012
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg) rs752689011 0.00011
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu) rs754916465 0.00009
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00009
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala) rs528319887 0.00009
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys) rs199684959 0.00009
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser) rs200375837 0.00009
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met) rs201657256 0.00008
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641 0.00008
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met) rs200108494 0.00008
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp) rs754228661 0.00008
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu) rs376514006 0.00007
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 0.00007
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe) rs756100330 0.00006
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147 0.00006
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile) rs368113790 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.3952G>A (p.Ala1318Thr) rs41269309 0.00006
NM_004370.6(COL12A1):c.4279C>T (p.Arg1427Cys) rs779038394 0.00006
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His) rs34336755 0.00006
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr) rs576888932 0.00006
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala) rs758182752 0.00006
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp) rs769219928 0.00006
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly) rs374757163 0.00005
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 0.00005
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851 0.00005
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys) rs575168916 0.00005
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His) rs191996302 0.00005
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.4288-5C>T rs544779989 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln) rs757252832 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His) rs756803766 0.00004
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly) rs774882851 0.00004
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu) rs201662983 0.00004
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met) rs572007088 0.00004
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly) rs1180402350 0.00004
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr) rs746982506 0.00004
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala) rs375221786 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp) rs370360673 0.00004
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181 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.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser) rs201810535 0.00004
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser) rs373020081 0.00004
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val) rs753254039 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.5587C>T (p.Arg1863Cys) rs201372309 0.00004
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys) rs775862147 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6608-4G>A rs374995108 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 0.00004
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val) rs752850582 0.00004
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp) rs368686970 0.00004
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met) rs183898615 0.00004
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365 0.00004
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr) rs757556640 0.00004
NM_004370.6(COL12A1):c.794G>A (p.Arg265His) rs778155362 0.00004
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu) rs369360559 0.00004
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu) rs751638930 0.00004
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262 0.00004
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg) rs1357325121 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.3245C>G (p.Thr1082Arg) rs762817385 0.00003
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483 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.385G>A (p.Glu129Lys) rs978290681 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His) rs200125060 0.00003
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His) rs751419788 0.00003
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met) rs373216375 0.00003
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His) rs373006852 0.00003
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys) rs780206104 0.00003
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668 0.00003
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His) rs751986784 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8686-5A>T rs749754621 0.00003
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=) rs375094592 0.00003
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe) rs565496900 0.00002
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 0.00002
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr) rs373583477 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275 0.00002
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3468T>C (p.Asn1156=) rs774082346 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.4255T>A (p.Tyr1419Asn) rs758640189 0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139 0.00002
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg) rs771110521 0.00002
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr) rs772069524 0.00002
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys) rs368481619 0.00002
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu) rs776561287 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 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.8563C>T (p.Pro2855Ser) rs1226171594 0.00002
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln) rs759065663 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln) rs749005420 0.00002
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser) rs370952607 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn) rs563331592 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr) rs775466928 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val) rs769631929 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val) rs770970810 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.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.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_004370.6(COL12A1):c.3550C>A (p.Pro1184Thr) rs1057524309 0.00001
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp) rs746929943 0.00001
NM_004370.6(COL12A1):c.3751T>G (p.Trp1251Gly) rs1767529569 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn) rs76453279 0.00001
NM_004370.6(COL12A1):c.4672A>G (p.Thr1558Ala) rs1217151970 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4805C>T (p.Thr1602Ile) rs1249355387 0.00001
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446 0.00001
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu) rs757825778 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.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 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.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu) rs186836845 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys) rs776701367 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511 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.7813A>C (p.Lys2605Gln) rs200751269 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.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 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.8495C>G (p.Pro2832Arg) rs779184954 0.00001
NM_004370.6(COL12A1):c.8609C>G (p.Pro2870Arg) rs751638930 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
GRCh37/hg19 6q13(chr6:75184521-75899477)x3
NM_004370.6(COL12A1):c.*6T>C rs2149321114
NM_004370.6(COL12A1):c.1037C>T (p.Ser346Phe)
NM_004370.6(COL12A1):c.1093A>C (p.Lys365Gln)
NM_004370.6(COL12A1):c.1111A>G (p.Met371Val) rs2149467349
NM_004370.6(COL12A1):c.1210G>A (p.Val404Ile)
NM_004370.6(COL12A1):c.1259A>T (p.Glu420Val)
NM_004370.6(COL12A1):c.127A>T (p.Met43Leu) rs1770138787
NM_004370.6(COL12A1):c.1283A>T (p.Gln428Leu)
NM_004370.6(COL12A1):c.1315G>A (p.Ala439Thr)
NM_004370.6(COL12A1):c.1403A>G (p.Lys468Arg) rs2149466373
NM_004370.6(COL12A1):c.1519_1525del (p.Ile507fs) rs1554187341
NM_004370.6(COL12A1):c.1574A>G (p.Tyr525Cys) rs756100330
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
NM_004370.6(COL12A1):c.1633A>G (p.Met545Val)
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>G (p.Tyr55Asp) rs1554189322
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1651G>C (p.Gly551Arg)
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1744T>A (p.Ser582Thr)
NM_004370.6(COL12A1):c.1796T>C (p.Val599Ala) rs2149465509
NM_004370.6(COL12A1):c.1803T>G (p.Asp601Glu)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>C (p.Ala631Pro)
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.190+3A>G rs2149482645
NM_004370.6(COL12A1):c.190+5G>A rs2149482639
NM_004370.6(COL12A1):c.1900C>A (p.Pro634Thr) rs1769264339
NM_004370.6(COL12A1):c.2012G>C (p.Gly671Ala) rs1057519171
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr) rs984509796
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2182A>T (p.Asn728Tyr)
NM_004370.6(COL12A1):c.2224A>T (p.Thr742Ser) rs2149457025
NM_004370.6(COL12A1):c.2287G>A (p.Gly763Arg)
NM_004370.6(COL12A1):c.2299G>C (p.Glu767Gln)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2347A>G (p.Ile783Val)
NM_004370.6(COL12A1):c.2354A>G (p.Asp785Gly)
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
NM_004370.6(COL12A1):c.2449C>T (p.Pro817Ser)
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2681C>A (p.Ala894Asp)
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2893C>G (p.Leu965Val) rs771868336
NM_004370.6(COL12A1):c.2972C>A (p.Ala991Asp)
NM_004370.6(COL12A1):c.2977A>G (p.Thr993Ala)
NM_004370.6(COL12A1):c.2983T>G (p.Leu995Val)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3004C>A (p.Leu1002Met)
NM_004370.6(COL12A1):c.301G>C (p.Glu101Gln)
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3052C>T (p.Pro1018Ser)
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile) rs200985706
NM_004370.6(COL12A1):c.311T>C (p.Val104Ala)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3130C>T (p.Pro1044Ser)
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln) rs577784031
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
NM_004370.6(COL12A1):c.334+1G>A
NM_004370.6(COL12A1):c.335-8del rs2149478420
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
NM_004370.6(COL12A1):c.3404T>G (p.Val1135Gly) rs2149423016
NM_004370.6(COL12A1):c.341C>A (p.Thr114Lys) rs1473887805
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His) rs764153192
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.3527C>T (p.Thr1176Ile)
NM_004370.6(COL12A1):c.3593C>G (p.Ala1198Gly)
NM_004370.6(COL12A1):c.3598A>G (p.Ile1200Val)
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.3704G>C (p.Arg1235Thr) rs2149417604
NM_004370.6(COL12A1):c.3730A>G (p.Ser1244Gly)
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
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.3779A>C (p.Lys1260Thr)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3829C>G (p.Leu1277Val)
NM_004370.6(COL12A1):c.3833C>T (p.Thr1278Ile)
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3886A>G (p.Met1296Val)
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
NM_004370.6(COL12A1):c.3961A>G (p.Lys1321Glu)
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4148-4G>C
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
NM_004370.6(COL12A1):c.4195C>T (p.Arg1399Cys)
NM_004370.6(COL12A1):c.4201T>C (p.Phe1401Leu)
NM_004370.6(COL12A1):c.4225T>C (p.Ser1409Pro)
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4387A>G (p.Ser1463Gly)
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn) rs771864984
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4561-3C>T
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.4609C>G (p.Pro1537Ala)
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys) rs373216375
NM_004370.6(COL12A1):c.4637A>T (p.Gln1546Leu)
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4771G>A (p.Gly1591Arg)
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.490G>A (p.Ala164Thr)
NM_004370.6(COL12A1):c.4910T>C (p.Val1637Ala)
NM_004370.6(COL12A1):c.5025G>A (p.Trp1675Ter) rs1554181078
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5051T>C (p.Leu1684Pro)
NM_004370.6(COL12A1):c.5065T>G (p.Trp1689Gly)
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5243C>A (p.Thr1748Lys) rs1766723774
NM_004370.6(COL12A1):c.529A>T (p.Thr177Ser) rs375778726
NM_004370.6(COL12A1):c.5304C>A (p.Ser1768Arg)
NM_004370.6(COL12A1):c.5321A>G (p.Asp1774Gly) rs1064796779
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5498G>A (p.Gly1833Asp)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5638C>T (p.Pro1880Ser)
NM_004370.6(COL12A1):c.566G>C (p.Arg189Thr)
NM_004370.6(COL12A1):c.5702G>A (p.Arg1901Lys)
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
NM_004370.6(COL12A1):c.5759G>A (p.Gly1920Asp)
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5803G>C (p.Gly1935Arg)
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.5816A>G (p.Asn1939Ser)
NM_004370.6(COL12A1):c.5833C>T (p.Pro1945Ser) rs2149385420
NM_004370.6(COL12A1):c.585T>G (p.Asn195Lys) rs2149475684
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.6048C>A (p.Ser2016Arg) rs369770672
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6102T>A (p.Phe2034Leu) rs2149382623
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.6172A>G (p.Ile2058Val)
NM_004370.6(COL12A1):c.6176A>G (p.Tyr2059Cys)
NM_004370.6(COL12A1):c.6202G>A (p.Asp2068Asn) rs751691332
NM_004370.6(COL12A1):c.6250C>G (p.Pro2084Ala)
NM_004370.6(COL12A1):c.6308A>G (p.Asp2103Gly)
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6461-13G>A rs918304438
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6500C>G (p.Thr2167Arg) 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.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+3A>G
NM_004370.6(COL12A1):c.6599G>A (p.Gly2200Asp) rs2149375411
NM_004370.6(COL12A1):c.6604A>G (p.Thr2202Ala) rs2149375402
NM_004370.6(COL12A1):c.6607+3G>A
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6731G>A (p.Arg2244Lys) rs2149373808
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6842G>A (p.Gly2281Glu) rs2149373537
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7463C>G (p.Ser2488Cys)
NM_004370.6(COL12A1):c.7520-6T>C rs2149361702
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
NM_004370.6(COL12A1):c.7531A>G (p.Ile2511Val)
NM_004370.6(COL12A1):c.7540G>A (p.Asp2514Asn)
NM_004370.6(COL12A1):c.7582A>G (p.Asn2528Asp)
NM_004370.6(COL12A1):c.7596G>T (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7616G>A (p.Gly2539Glu)
NM_004370.6(COL12A1):c.7627G>C (p.Glu2543Gln) rs1361188088
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7736T>C (p.Ile2579Thr)
NM_004370.6(COL12A1):c.7777C>T (p.Pro2593Ser)
NM_004370.6(COL12A1):c.7844C>A (p.Ser2615Tyr) rs2149358241
NM_004370.6(COL12A1):c.7868A>G (p.Asn2623Ser)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7930T>C (p.Phe2644Leu)
NM_004370.6(COL12A1):c.7936G>A (p.Gly2646Arg) rs779477270
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.7991T>C (p.Ile2664Thr) rs1768708384
NM_004370.6(COL12A1):c.8081G>T (p.Gly2694Val) rs1131691271
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.8114G>A (p.Ser2705Asn)
NM_004370.6(COL12A1):c.811G>T (p.Val271Phe)
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
NM_004370.6(COL12A1):c.8170C>T (p.Pro2724Ser)
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.8231A>G (p.Asp2744Gly)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8323C>T (p.Pro2775Ser)
NM_004370.6(COL12A1):c.8332C>T (p.Pro2778Ser)
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8342A>T (p.Asp2781Val) rs1197055761
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8459C>T (p.Pro2820Leu) rs1554168325
NM_004370.6(COL12A1):c.8467A>T (p.Thr2823Ser) rs768691372
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.8555C>A (p.Pro2852His)
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8678G>T (p.Gly2893Val) rs2149328791
NM_004370.6(COL12A1):c.8707A>T (p.Met2903Leu)
NM_004370.6(COL12A1):c.8746A>G (p.Ile2916Val) rs2149328494
NM_004370.6(COL12A1):c.8801A>G (p.Tyr2934Cys)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+6T>G
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.902A>T (p.Asn301Ile) rs1769747613
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=) rs572512247
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9109C>A (p.Pro3037Thr)
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.9166G>A (p.Gly3056Arg)
NM_004370.6(COL12A1):c.9172_9173delinsAA (p.Gly3058Asn) rs2149322669
NM_004370.6(COL12A1):c.9181+5G>A

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