ClinVar Miner

List of variants reported as likely benign for Ullrich congenital muscular dystrophy 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1376
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.4000+5G>A rs181257320 0.00349
NM_004370.6(COL12A1):c.1892-7T>A rs779185109 0.00210
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825 0.00148
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246 0.00145
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239 0.00141
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131 0.00125
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248 0.00118
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763 0.00101
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303 0.00096
NM_004370.6(COL12A1):c.4958-7A>C rs1332779 0.00083
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173 0.00072
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595 0.00067
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594 0.00062
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552 0.00061
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362 0.00049
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00048
NM_004370.6(COL12A1):c.7950+18T>G rs141529820 0.00044
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681 0.00040
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449 0.00040
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285 0.00040
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580 0.00039
NM_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192 0.00039
NM_004370.6(COL12A1):c.1892-7_1892-6del rs1491398037 0.00038
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785 0.00036
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880 0.00035
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637 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.3954A>T (p.Ala1318=) rs200346099 0.00031
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00029
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811 0.00024
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792 0.00024
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00023
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00023
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354 0.00022
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00022
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=) rs370691983 0.00022
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=) rs202092920 0.00021
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006 0.00019
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn) rs185615367 0.00019
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala) rs200034130 0.00019
NM_004370.6(COL12A1):c.5251+14T>C rs188210409 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408 0.00018
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576 0.00016
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00016
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051 0.00016
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.1471G>C (p.Glu491Gln) rs367630003 0.00014
NM_004370.6(COL12A1):c.3443+16G>A rs371060233 0.00014
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=) rs369770672 0.00014
NM_004370.6(COL12A1):c.8469+14T>C rs370535727 0.00014
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His) rs57396313 0.00014
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474 0.00013
NM_004370.6(COL12A1):c.4001-11C>T rs374279219 0.00013
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149 0.00013
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=) rs376582053 0.00013
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700 0.00013
NM_004370.6(COL12A1):c.1891+4A>G rs148292262 0.00012
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg) rs199692759 0.00012
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg) rs752689011 0.00011
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) rs558571598 0.00011
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala) rs777544552 0.00011
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=) rs373522815 0.00010
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231 0.00010
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968 0.00010
NM_004370.6(COL12A1):c.8523+18G>C rs202002189 0.00010
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala) rs376189614 0.00010
NM_004370.6(COL12A1):c.1050T>C (p.Val350=) rs372113789 0.00009
NM_004370.6(COL12A1):c.3099T>C (p.His1033=) rs751065518 0.00009
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val) rs763883662 0.00009
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979 0.00009
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=) rs373978519 0.00009
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=) rs372068116 0.00009
NM_004370.6(COL12A1):c.8100+16T>A rs201476445 0.00009
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 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.3069C>T (p.Val1023=) rs746395625 0.00008
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala) rs528319887 0.00008
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln) rs760786950 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.8856C>T (p.Ser2952=) rs375760724 0.00008
NM_004370.6(COL12A1):c.1134C>T (p.His378=) rs376523503 0.00007
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00007
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641 0.00007
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu) rs376514006 0.00007
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His) rs191996302 0.00007
NM_004370.6(COL12A1):c.4000+18C>T rs562892044 0.00007
NM_004370.6(COL12A1):c.4288-12T>A rs377491153 0.00007
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=) rs567079114 0.00007
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu) rs373011926 0.00007
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His) rs34336755 0.00007
NM_004370.6(COL12A1):c.9181+20G>A rs763341868 0.00007
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe) rs756100330 0.00006
NM_004370.6(COL12A1):c.1892-6A>T rs60109744 0.00006
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp) rs758146130 0.00006
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met) rs149832668 0.00006
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile) rs368113790 0.00006
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met) rs572007088 0.00006
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=) rs376957850 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val) rs200819563 0.00006
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=) rs201270183 0.00006
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=) rs752068052 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.4644C>T (p.Val1548=) rs747738369 0.00006
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=) rs201965731 0.00006
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578 0.00006
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile) rs372482618 0.00006
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys) rs777948762 0.00006
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys) rs534778154 0.00006
NM_004370.6(COL12A1):c.6210+16A>G rs773629728 0.00006
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=) rs1035643006 0.00006
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala) rs758182752 0.00006
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=) rs568748031 0.00006
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp) rs769219928 0.00006
NM_004370.6(COL12A1):c.7520-17A>G rs770500462 0.00006
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=) rs763305624 0.00006
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=) rs767339128 0.00006
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly) rs374757163 0.00005
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914 0.00005
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147 0.00005
NM_004370.6(COL12A1):c.2438-14A>C rs768551555 0.00005
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=) rs377030726 0.00005
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=) rs191863996 0.00005
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=) rs372499120 0.00005
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=) rs374531525 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.3371C>T (p.Thr1124Met) rs367774920 0.00005
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637 0.00005
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966 0.00005
NM_004370.6(COL12A1):c.4288-5C>T rs544779989 0.00005
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181 0.00005
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met) rs749368197 0.00005
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser) rs201810535 0.00005
NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=) rs770005406 0.00005
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625 0.00005
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=) rs376241836 0.00005
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys) rs200870100 0.00005
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys) rs562076616 0.00005
NM_004370.6(COL12A1):c.633A>G (p.Pro211=) rs541648868 0.00005
NM_004370.6(COL12A1):c.6608-4G>A rs374995108 0.00005
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=) rs554342070 0.00005
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val) rs367980407 0.00005
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365 0.00005
NM_004370.6(COL12A1):c.7558+16T>C rs754091668 0.00005
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln) rs200751269 0.00005
NM_004370.6(COL12A1):c.8179-20T>C rs368174500 0.00005
NM_004370.6(COL12A1):c.8319+17G>A rs753110924 0.00005
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=) rs572512247 0.00005
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser) rs370379561 0.00004
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=) rs192004528 0.00004
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=) rs371148798 0.00004
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val) rs369924790 0.00004
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly) rs774882851 0.00004
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=) rs746946822 0.00004
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292 0.00004
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196 0.00004
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys) rs746059124 0.00004
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=) rs1013417237 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.3021A>G (p.Glu1007=) rs368940290 0.00004
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His) rs79863717 0.00004
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=) rs536622585 0.00004
NM_004370.6(COL12A1):c.3566-8C>A rs201709757 0.00004
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00004
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp) rs370360673 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.5098-13C>T rs186255379 0.00004
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser) rs373020081 0.00004
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.546T>C (p.Val182=) rs764254293 0.00004
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=) rs747217911 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.588G>A (p.Gln196=) rs748928908 0.00004
NM_004370.6(COL12A1):c.6067+19C>A rs766225201 0.00004
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu) rs767845062 0.00004
NM_004370.6(COL12A1):c.6607+8A>G rs781751102 0.00004
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg) rs1053454286 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.7005G>C (p.Gly2335=) rs760111437 0.00004
NM_004370.6(COL12A1):c.7086+14C>T rs778933089 0.00004
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=) rs754178898 0.00004
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met) rs183898615 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.7950+20T>G rs752468536 0.00004
NM_004370.6(COL12A1):c.823+20T>C rs534530101 0.00004
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=) rs555905349 0.00004
NM_004370.6(COL12A1):c.8265+11T>C rs775543292 0.00004
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=) rs187901672 0.00004
NM_004370.6(COL12A1):c.8415+18C>T rs768672391 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.974G>A (p.Gly325Asp) rs776914145 0.00004
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr) rs201085951 0.00003
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln) rs757252832 0.00003
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166 0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=) rs1318149393 0.00003
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=) rs780620827 0.00003
NM_004370.6(COL12A1):c.2165-8T>C rs909913796 0.00003
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=) rs369803330 0.00003
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile) rs375704787 0.00003
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg) rs1357325121 0.00003
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu) rs201662983 0.00003
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg) rs761818931 0.00003
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=) rs1424598359 0.00003
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln) rs577784031 0.00003
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385 0.00003
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala) rs375221786 0.00003
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483 0.00003
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn) rs767422633 0.00003
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys) rs978290681 0.00003
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln) rs549336635 0.00003
NM_004370.6(COL12A1):c.4147+17G>A rs368106123 0.00003
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys) rs780317617 0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His) rs200125060 0.00003
NM_004370.6(COL12A1):c.4288-9T>C rs1582131968 0.00003
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly) rs201651899 0.00003
NM_004370.6(COL12A1):c.432C>T (p.Leu144=) rs528524927 0.00003
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala) rs1304441862 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.4675G>A (p.Val1559Ile) rs373826197 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.492T>C (p.Ala164=) rs748734386 0.00003
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala) rs753055740 0.00003
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro) rs1373816462 0.00003
NM_004370.6(COL12A1):c.5098-19T>C rs201111398 0.00003
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=) rs1479706901 0.00003
NM_004370.6(COL12A1):c.5394+10T>A rs890398079 0.00003
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile) rs757737726 0.00003
NM_004370.6(COL12A1):c.549A>G (p.Gln183=) rs976111576 0.00003
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=) rs372356221 0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668 0.00003
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile) rs542263318 0.00003
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile) rs778672810 0.00003
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His) rs751986784 0.00003
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=) rs199632288 0.00003
NM_004370.6(COL12A1):c.5794+13G>A rs1251026138 0.00003
NM_004370.6(COL12A1):c.5988G>A (p.Pro1996=) rs767451558 0.00003
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=) rs749610874 0.00003
NM_004370.6(COL12A1):c.6141T>C (p.His2047=) rs773648194 0.00003
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr) rs755180015 0.00003
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu) rs771019349 0.00003
NM_004370.6(COL12A1):c.6382T>C (p.Trp2128Arg) rs536091328 0.00003
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=) rs781120781 0.00003
NM_004370.6(COL12A1):c.6947-6T>C rs200538799 0.00003
NM_004370.6(COL12A1):c.7027G>A (p.Val2343Ile) rs201828973 0.00003
NM_004370.6(COL12A1):c.7211-19T>C rs370012355 0.00003
NM_004370.6(COL12A1):c.74-19T>C rs564822630 0.00003
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=) rs745549241 0.00003
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00003
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=) rs373585140 0.00003
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=) rs368616942 0.00003
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met) rs549405420 0.00003
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=) rs761216954 0.00003
NM_004370.6(COL12A1):c.8469+10T>C rs375332527 0.00003
NM_004370.6(COL12A1):c.8523+11T>C rs370728186 0.00003
NM_004370.6(COL12A1):c.8578-4G>A rs780000164 0.00003
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=) rs751804493 0.00003
NM_004370.6(COL12A1):c.8686-5A>T rs749754621 0.00003
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=) rs768543325 0.00003
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00003
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=) rs374037516 0.00003
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=) rs375094592 0.00003
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262 0.00003
NM_004370.6(COL12A1):c.1023T>C (p.Ile341=) rs747827698 0.00002
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe) rs565496900 0.00002
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His) rs775010013 0.00002
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=) rs1242358815 0.00002
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile) rs759237307 0.00002
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=) rs560103397 0.00002
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=) rs781239880 0.00002
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val) rs747479664 0.00002
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys) rs764727126 0.00002
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His) rs756803766 0.00002
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=) rs201511621 0.00002
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=) rs777735047 0.00002
NM_004370.6(COL12A1):c.1891+17A>G rs975477987 0.00002
NM_004370.6(COL12A1):c.191-12T>C rs772991479 0.00002
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362 0.00002
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala) rs755046298 0.00002
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=) rs1039108581 0.00002
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln) rs377480187 0.00002
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile) rs746079159 0.00002
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=) rs776558080 0.00002
NM_004370.6(COL12A1):c.2437+18A>G rs369377480 0.00002
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=) rs201021998 0.00002
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala) rs770324764 0.00002
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr) rs373583477 0.00002
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=) rs747852589 0.00002
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=) rs765497889 0.00002
NM_004370.6(COL12A1):c.2983+17G>A rs753711533 0.00002
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275 0.00002
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=) rs375105807 0.00002
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln) rs757917876 0.00002
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=) rs765327402 0.00002
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=) rs755878864 0.00002
NM_004370.6(COL12A1):c.3443+15C>T rs762336310 0.00002
NM_004370.6(COL12A1):c.3715+18T>C rs556557278 0.00002
NM_004370.6(COL12A1):c.3836-19C>G rs762897672 0.00002
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val) rs749722543 0.00002
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys) rs780568012 0.00002
NM_004370.6(COL12A1):c.394+16A>T rs966863892 0.00002
NM_004370.6(COL12A1):c.4148-4G>A rs146899194 0.00002
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln) rs769711983 0.00002
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His) rs1033545876 0.00002
NM_004370.6(COL12A1):c.4288-19G>C rs1554182346 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.4518A>G (p.Ser1506=) rs201039857 0.00002
NM_004370.6(COL12A1):c.4560+14G>A rs765603514 0.00002
NM_004370.6(COL12A1):c.465T>C (p.Asn155=) rs777308349 0.00002
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr) rs772069524 0.00002
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser) rs757815790 0.00002
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=) rs1262898971 0.00002
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973 0.00002
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys) rs368481619 0.00002
NM_004370.6(COL12A1):c.5098-14C>T rs370402417 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val) rs753254039 0.00002
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser) rs752550335 0.00002
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu) rs776561287 0.00002
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=) rs570972516 0.00002
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=) rs1249793538 0.00002
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=) rs768333048 0.00002
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=) rs774390819 0.00002
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met) rs750550229 0.00002
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg) rs764600940 0.00002
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=) rs779833436 0.00002
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His) rs367908043 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met) rs745630449 0.00002
NM_004370.6(COL12A1):c.5937+13G>T rs769986889 0.00002
NM_004370.6(COL12A1):c.5967G>A (p.Val1989=) rs375766432 0.00002
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp) rs199501842 0.00002
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=) rs200777154 0.00002
NM_004370.6(COL12A1):c.6210+17T>C rs370098714 0.00002
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr) rs576888932 0.00002
NM_004370.6(COL12A1):c.6460+20A>G rs751297089 0.00002
NM_004370.6(COL12A1):c.658+13G>T rs1341256371 0.00002
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=) rs1442019750 0.00002
NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln) rs371417841 0.00002
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=) rs1384590633 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7087-14A>G rs779399089 0.00002
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=) rs1344927209 0.00002
NM_004370.6(COL12A1):c.73+8G>A rs765626825 0.00002
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=) rs777334909 0.00002
NM_004370.6(COL12A1):c.7520-11G>A rs748824474 0.00002
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=) rs755597191 0.00002
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala) rs374843798 0.00002
NM_004370.6(COL12A1):c.7970C>T (p.Ser2657Leu) rs375966663 0.00002
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=) rs1768550709 0.00002
NM_004370.6(COL12A1):c.823+10G>A rs1233608917 0.00002
NM_004370.6(COL12A1):c.8470-4G>T rs768782985 0.00002
NM_004370.6(COL12A1):c.8523+16C>T rs751486526 0.00002
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=) rs372700355 0.00002
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln) rs759065663 0.00002
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala) rs778365596 0.00002
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=) rs372365979 0.00002
NM_004370.6(COL12A1):c.9011-8C>T rs370683755 0.00002
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln) rs749005420 0.00002
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro) rs779895718 0.00002
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg) rs762612450 0.00002
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser) rs375542964 0.00001
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=) rs371748094 0.00001
NM_004370.6(COL12A1):c.1037C>T (p.Ser346Phe) rs750973947 0.00001
NM_004370.6(COL12A1):c.1059T>C (p.Asn353=) rs1375858372 0.00001
NM_004370.6(COL12A1):c.1083G>A (p.Val361=) rs373691118 0.00001
NM_004370.6(COL12A1):c.108A>C (p.Ile36=) rs530562613 0.00001
NM_004370.6(COL12A1):c.10A>C (p.Arg4=) rs1189935795 0.00001
NM_004370.6(COL12A1):c.1127G>A (p.Arg376Gln) rs748453662 0.00001
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser) rs370952607 0.00001
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=) rs751787368 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=) rs1769468260 0.00001
NM_004370.6(COL12A1):c.1243C>T (p.Pro415Ser) rs771512997 0.00001
NM_004370.6(COL12A1):c.1288+18T>C rs199924661 0.00001
NM_004370.6(COL12A1):c.1289-17T>A rs1396216016 0.00001
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp) rs759184281 0.00001
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn) rs563331592 0.00001
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=) rs1004269418 0.00001
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=) rs1376190834 0.00001
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=) rs533536940 0.00001
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=) rs769824937 0.00001
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln) rs768545712 0.00001
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser) rs751220055 0.00001
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=) rs748722008 0.00001
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=) rs1315426605 0.00001
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn) rs1169546055 0.00001
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser) rs543760014 0.00001
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr) rs775466928 0.00001
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys) rs1371486094 0.00001
NM_004370.6(COL12A1):c.1707T>C (p.Val569=) rs1356145004 0.00001
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr) rs755550198 0.00001
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=) rs1769411353 0.00001
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg) rs752633980 0.00001
NM_004370.6(COL12A1):c.177G>A (p.Val59=) rs772158281 0.00001
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=) rs552726593 0.00001
NM_004370.6(COL12A1):c.1839A>G (p.Thr613=) rs940300971 0.00001
NM_004370.6(COL12A1):c.1892-14_1892-13insA rs749742940 0.00001
NM_004370.6(COL12A1):c.18C>T (p.Pro6=) rs1427431369 0.00001
NM_004370.6(COL12A1):c.191-11T>C rs765124645 0.00001
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys) rs760872362 0.00001
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser) rs1436987187 0.00001
NM_004370.6(COL12A1):c.2061T>C (p.Val687=) rs1769249599 0.00001
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=) rs779972390 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=) rs759595683 0.00001
NM_004370.6(COL12A1):c.2164+8G>C rs1350973472 0.00001
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln) rs775023310 0.00001
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=) rs770644269 0.00001
NM_004370.6(COL12A1):c.2225C>G (p.Thr742Ser) rs765784708 0.00001
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu) rs770965835 0.00001
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=) rs1582185053 0.00001
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=) rs752359605 0.00001
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=) rs2533533085 0.00001
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu) rs772979149 0.00001
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val) rs769631929 0.00001
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=) rs1362819622 0.00001
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=) rs781557444 0.00001
NM_004370.6(COL12A1):c.2506G>C (p.Gly836Arg) rs1225234004 0.00001
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val) rs770970810 0.00001
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=) rs1478902650 0.00001
NM_004370.6(COL12A1):c.2577C>T (p.Val859=) rs902436577 0.00001
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter) rs765303183 0.00001
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala) rs1277353575 0.00001
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=) rs756052823 0.00001
NM_004370.6(COL12A1):c.2710+7A>G rs969629618 0.00001
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=) rs1378387209 0.00001
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=) rs1420771479 0.00001
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=) rs780559642 0.00001
NM_004370.6(COL12A1):c.2808G>A (p.Arg936=) rs752888786 0.00001
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=) rs760141819 0.00001
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=) rs777357134 0.00001
NM_004370.6(COL12A1):c.2966G>C (p.Gly989Ala) rs575661919 0.00001
NM_004370.6(COL12A1):c.2983+11T>C rs538734381 0.00001
NM_004370.6(COL12A1):c.2984-7C>T rs1327039652 0.00001
NM_004370.6(COL12A1):c.2984-8T>C rs753544863 0.00001
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=) rs910433493 0.00001
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His) rs752304678 0.00001
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn) rs778135297 0.00001
NM_004370.6(COL12A1):c.3193G>A (p.Val1065Ile) rs752357736 0.00001
NM_004370.6(COL12A1):c.3228T>C (p.Leu1076=) rs1200747699 0.00001
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala) rs368153032 0.00001
NM_004370.6(COL12A1):c.334+8C>T rs1359112911 0.00001
NM_004370.6(COL12A1):c.335-16T>C rs1286151975 0.00001
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu) rs1029379585 0.00001
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=) rs1420617553 0.00001
NM_004370.6(COL12A1):c.3443+10A>T rs1217280037 0.00001
NM_004370.6(COL12A1):c.3443+20G>A rs1463513548 0.00001
NM_004370.6(COL12A1):c.3444-17A>G rs758638126 0.00001
NM_004370.6(COL12A1):c.3444-19A>G rs780942876 0.00001
NM_004370.6(COL12A1):c.3444-8C>T rs765303217 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn) rs370641424 0.00001
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=) rs1474969508 0.00001
NM_004370.6(COL12A1):c.3566-15T>C rs1767545966 0.00001
NM_004370.6(COL12A1):c.3566-6T>C rs777940348 0.00001
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp) rs746929943 0.00001
NM_004370.6(COL12A1):c.363G>A (p.Val121=) rs559388395 0.00001
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys) rs748277540 0.00001
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=) rs374534617 0.00001
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00001
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893 0.00001
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=) rs770806561 0.00001
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=) rs370675782 0.00001
NM_004370.6(COL12A1):c.3835+18G>A rs1461703629 0.00001
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys) rs764448554 0.00001
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys) rs1194355123 0.00001
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=) rs1767517036 0.00001
NM_004370.6(COL12A1):c.390A>T (p.Ile130=) rs763108669 0.00001
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=) rs531318332 0.00001
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=) rs1174895531 0.00001
NM_004370.6(COL12A1):c.395-19G>T rs565833825 0.00001
NM_004370.6(COL12A1):c.395-9G>A rs1769835128 0.00001
NM_004370.6(COL12A1):c.3960A>G (p.Ser1320=) rs767512171 0.00001
NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=) rs368868136 0.00001
NM_004370.6(COL12A1):c.4000+15G>T rs1401413930 0.00001
NM_004370.6(COL12A1):c.4001-6T>C rs767851435 0.00001
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser) rs1187079906 0.00001
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=) rs751690563 0.00001
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247 0.00001
NM_004370.6(COL12A1):c.4086G>A (p.Glu1362=) rs1288804907 0.00001
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=) rs771642899 0.00001
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr) rs778970645 0.00001
NM_004370.6(COL12A1):c.411C>G (p.Ala137=) rs373362080 0.00001
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=) rs1171598389 0.00001
NM_004370.6(COL12A1):c.417T>A (p.Thr139=) rs777652114 0.00001
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=) rs754233830 0.00001
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val) rs780437089 0.00001
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu) rs773936793 0.00001
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile) rs772461470 0.00001
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=) rs1767306131 0.00001
NM_004370.6(COL12A1):c.4288-6C>T rs768371908 0.00001
NM_004370.6(COL12A1):c.42G>A (p.Ala14=) rs758961396 0.00001
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=) rs749367997 0.00001
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg) rs182730243 0.00001
NM_004370.6(COL12A1):c.433G>A (p.Val145Met) rs750624029 0.00001
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=) rs765983584 0.00001
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=) rs749957138 0.00001
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355 0.00001
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=) rs1416289158 0.00001
NM_004370.6(COL12A1):c.4417+15_4417+19del rs768514093 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=) rs372904002 0.00001
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178 0.00001
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025 0.00001
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=) rs1267756642 0.00001
NM_004370.6(COL12A1):c.4560+10G>C rs372490462 0.00001
NM_004370.6(COL12A1):c.4561-15C>T rs777154641 0.00001
NM_004370.6(COL12A1):c.4561-4G>A rs148650016 0.00001
NM_004370.6(COL12A1):c.4561-6G>A rs560550352 0.00001
NM_004370.6(COL12A1):c.456A>G (p.Gly152=) rs761930862 0.00001
NM_004370.6(COL12A1):c.4578A>G (p.Thr1526=) rs1767129489 0.00001
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn) rs76453279 0.00001
NM_004370.6(COL12A1):c.4690+17T>C rs1389040653 0.00001
NM_004370.6(COL12A1):c.4690+7T>C rs1364868781 0.00001
NM_004370.6(COL12A1):c.4690+8A>T rs760044445 0.00001
NM_004370.6(COL12A1):c.4691-13C>T rs371962953 0.00001
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=) rs1429126907 0.00001
NM_004370.6(COL12A1):c.4737C>T (p.His1579=) rs765450196 0.00001
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=) rs1464793469 0.00001
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=) rs749072028 0.00001
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln) rs781463654 0.00001
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=) rs1025841228 0.00001
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=) rs1361287372 0.00001
NM_004370.6(COL12A1):c.4827+16T>C rs535965773 0.00001
NM_004370.6(COL12A1):c.4828-4A>G rs1766927221 0.00001
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=) rs369793258 0.00001
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446 0.00001
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=) rs767188736 0.00001
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=) rs1219807352 0.00001
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=) rs762832336 0.00001
NM_004370.6(COL12A1):c.489T>C (p.Ile163=) rs1301321074 0.00001
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=) rs1447086849 0.00001
NM_004370.6(COL12A1):c.4957+10G>C rs1172874533 0.00001
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593 0.00001
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=) rs1301829570 0.00001
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=) rs757968333 0.00001
NM_004370.6(COL12A1):c.5097+11C>A rs1303824414 0.00001
NM_004370.6(COL12A1):c.5097+20T>G rs770211183 0.00001
NM_004370.6(COL12A1):c.5098-5C>T rs766762283 0.00001
NM_004370.6(COL12A1):c.5147C>T (p.Pro1716Leu) rs1489196995 0.00001
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr) rs780886772 0.00001
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=) rs767349975 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815 0.00001
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys) rs764434325 0.00001
NM_004370.6(COL12A1):c.5230+12G>A rs1217119772 0.00001
NM_004370.6(COL12A1):c.5230+17C>T rs748885203 0.00001
NM_004370.6(COL12A1):c.5230+20A>C rs756121696 0.00001
NM_004370.6(COL12A1):c.5247A>G (p.Thr1749=) rs747633964 0.00001
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467 0.00001
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=) rs1422128161 0.00001
NM_004370.6(COL12A1):c.5394+14A>G rs761581339 0.00001
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=) rs750914354 0.00001
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr) rs1464239210 0.00001
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp) rs775456254 0.00001
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu) rs757825778 0.00001
NM_004370.6(COL12A1):c.5524+10A>G rs1766495289 0.00001
NM_004370.6(COL12A1):c.5524+16G>C rs755749812 0.00001
NM_004370.6(COL12A1):c.5525-20G>A rs748426443 0.00001
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=) rs1478704246 0.00001
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr) rs368110696 0.00001
NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val) rs1220338873 0.00001
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys) rs773807635 0.00001
NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys) rs746619115 0.00001
NM_004370.6(COL12A1):c.5664+14G>T rs371510068 0.00001
NM_004370.6(COL12A1):c.5665-4T>C rs1766411910 0.00001
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428 0.00001
NM_004370.6(COL12A1):c.567G>A (p.Arg189=) rs1214927940 0.00001
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn) rs759905934 0.00001
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=) rs369481796 0.00001
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=) rs780813171 0.00001
NM_004370.6(COL12A1):c.5794+17A>G rs2533284428 0.00001
NM_004370.6(COL12A1):c.5795-14C>T rs1178311224 0.00001
NM_004370.6(COL12A1):c.5938-7C>T rs1343757913 0.00001
NM_004370.6(COL12A1):c.5938-9C>G rs1166562974 0.00001
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=) rs770005423 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 0.00001
NM_004370.6(COL12A1):c.5970T>C (p.His1990=) rs1766272309 0.00001
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu) rs752189896 0.00001
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=) rs374519236 0.00001
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=) rs762626921 0.00001
NM_004370.6(COL12A1):c.6067+12A>G rs1296760560 0.00001
NM_004370.6(COL12A1):c.6068-15A>G rs1040982905 0.00001
NM_004370.6(COL12A1):c.6068-16T>C rs901069346 0.00001
NM_004370.6(COL12A1):c.6068-20A>G rs373620003 0.00001
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=) rs764896298 0.00001
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=) rs1248355913 0.00001
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser) rs202186932 0.00001
NM_004370.6(COL12A1):c.6126G>A (p.Ser2042=) rs868201834 0.00001
NM_004370.6(COL12A1):c.6158A>G (p.Gln2053Arg) rs377224579 0.00001
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val) rs376192452 0.00001
NM_004370.6(COL12A1):c.6210+10A>T rs766320944 0.00001
NM_004370.6(COL12A1):c.6210+20A>T rs377223538 0.00001
NM_004370.6(COL12A1):c.6211-4A>G rs762268779 0.00001
NM_004370.6(COL12A1):c.6211-6C>G rs765739082 0.00001
NM_004370.6(COL12A1):c.6340+12G>A rs749187959 0.00001
NM_004370.6(COL12A1):c.6340+14A>G rs906650054 0.00001
NM_004370.6(COL12A1):c.6340+19C>T rs1244591730 0.00001
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe) rs772205982 0.00001
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu) rs186836845 0.00001
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=) rs372703375 0.00001
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys) rs776701367 0.00001
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=) rs763927693 0.00001
NM_004370.6(COL12A1):c.6607+16T>A rs1765949105 0.00001
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=) rs1458129254 0.00001
NM_004370.6(COL12A1):c.6724+13A>G rs757071502 0.00001
NM_004370.6(COL12A1):c.6725-14G>A rs772653174 0.00001
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=) rs1420789055 0.00001
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=) rs754181144 0.00001
NM_004370.6(COL12A1):c.6872-15A>G rs1194845960 0.00001
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=) rs1189256592 0.00001
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln) rs374405599 0.00001
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963 0.00001
NM_004370.6(COL12A1):c.7023A>G (p.Lys2341=) rs1188817520 0.00001
NM_004370.6(COL12A1):c.7086+15G>A rs762181043 0.00001
NM_004370.6(COL12A1):c.7086+20T>A rs763688186 0.00001
NM_004370.6(COL12A1):c.7087-20C>T rs745891966 0.00001
NM_004370.6(COL12A1):c.7087-8T>C rs2533203563 0.00001
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=) rs1227090004 0.00001
NM_004370.6(COL12A1):c.7210+9A>G rs369099620 0.00001
NM_004370.6(COL12A1):c.7211-11A>G rs754635262 0.00001
NM_004370.6(COL12A1):c.7211-16A>G rs376686717 0.00001
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=) rs368333381 0.00001
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586 0.00001
NM_004370.6(COL12A1):c.73+16C>T rs2533666238 0.00001
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln) rs747410893 0.00001
NM_004370.6(COL12A1):c.7437C>T (p.His2479=) rs775670738 0.00001
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=) rs778626937 0.00001
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met) rs572216195 0.00001
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=) rs895079123 0.00001
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511 0.00001
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys) rs777688811 0.00001
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=) rs1157317368 0.00001
NM_004370.6(COL12A1):c.7520-4G>A rs777213161 0.00001
NM_004370.6(COL12A1):c.7558+17T>C rs1323169221 0.00001
NM_004370.6(COL12A1):c.7559-6G>A rs780041789 0.00001
NM_004370.6(COL12A1):c.75T>C (p.Val25=) rs749054316 0.00001
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=) rs778124838 0.00001
NM_004370.6(COL12A1):c.7698-10T>C rs1209387997 0.00001
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=) rs748445921 0.00001
NM_004370.6(COL12A1):c.7743A>G (p.Leu2581=) rs2533168474 0.00001
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=) rs1768943747 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7841-18C>T rs1400570424 0.00001
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=) rs747657598 0.00001
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val) rs199660424 0.00001
NM_004370.6(COL12A1):c.7950+9A>G rs778327157 0.00001
NM_004370.6(COL12A1):c.801T>C (p.Val267=) rs781375448 0.00001
NM_004370.6(COL12A1):c.804A>G (p.Gly268=) rs754993343 0.00001
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=) rs367966608 0.00001
NM_004370.6(COL12A1):c.810A>G (p.Glu270=) rs1326391180 0.00001
NM_004370.6(COL12A1):c.8178+16T>C rs1013929700 0.00001
NM_004370.6(COL12A1):c.8179-12T>C rs1030461320 0.00001
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=) rs1768493109 0.00001
NM_004370.6(COL12A1):c.8266-10T>C rs377345950 0.00001
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=) rs780813814 0.00001
NM_004370.6(COL12A1):c.8320-9G>A rs1280457942 0.00001
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=) rs767957084 0.00001
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=) rs553998601 0.00001
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser) rs766046177 0.00001
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys) rs1420946359 0.00001
NM_004370.6(COL12A1):c.8469+20G>T rs1768324536 0.00001
NM_004370.6(COL12A1):c.8470-5T>G rs776830409 0.00001
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg) rs779184954 0.00001
NM_004370.6(COL12A1):c.8523+8T>C rs752217139 0.00001
NM_004370.6(COL12A1):c.8524-10T>G rs1426788209 0.00001
NM_004370.6(COL12A1):c.8524-6C>A rs777596531 0.00001
NM_004370.6(COL12A1):c.8541C>T (p.Asp2847=) rs1768091831 0.00001
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser) rs1226171594 0.00001
NM_004370.6(COL12A1):c.8577+14G>A rs775776703 0.00001
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=) rs189999387 0.00001
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala) rs759563506 0.00001
NM_004370.6(COL12A1):c.8630C>A (p.Pro2877His) rs1292131568 0.00001
NM_004370.6(COL12A1):c.8649+7G>A rs1274498192 0.00001
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys) rs1381259753 0.00001
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=) rs1452797732 0.00001
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=) rs376238729 0.00001
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=) rs749317169 0.00001
NM_004370.6(COL12A1):c.8752+15C>G rs769648368 0.00001
NM_004370.6(COL12A1):c.8752+18T>C rs747884941 0.00001
NM_004370.6(COL12A1):c.877C>T (p.Leu293=) rs1434966950 0.00001
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=) rs1177841747 0.00001
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390 0.00001
NM_004370.6(COL12A1):c.8840C>T (p.Pro2947Leu) rs751239090 0.00001
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser) rs201760746 0.00001
NM_004370.6(COL12A1):c.8941+16T>C rs918793352 0.00001
NM_004370.6(COL12A1):c.8942-14T>G rs947201783 0.00001
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu) rs751306147 0.00001
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=) rs1448973629 0.00001
NM_004370.6(COL12A1):c.912A>G (p.Ala304=) rs767135101 0.00001
NM_004370.6(COL12A1):c.9181+18T>C rs867032927 0.00001
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr) rs774136306 0.00001
NM_004370.6(COL12A1):c.939C>T (p.Ile313=) rs1049592759 0.00001
NM_004370.6(COL12A1):c.979T>C (p.Leu327=) rs768698427 0.00001
NM_004370.6(COL12A1):c.997+9A>G rs560228996 0.00001
NM_004370.6(COL12A1):c.1008T>C (p.Pro336=)
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=) rs758331186
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=) rs2149467427
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.6(COL12A1):c.1131G>A (p.Gln377=) rs2533572871
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=) rs2149467274
NM_004370.6(COL12A1):c.1149G>A (p.Gly383=) rs779469667
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=) rs2149467222
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys) rs201657256
NM_004370.6(COL12A1):c.1182C>G (p.Leu394=)
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=) rs763051678
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn) rs184556620
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu) rs775157077
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=) rs2149467023
NM_004370.6(COL12A1):c.1288+12T>G rs2533570836
NM_004370.6(COL12A1):c.1288+15G>A rs909792552
NM_004370.6(COL12A1):c.1289-13T>G rs2533569417
NM_004370.6(COL12A1):c.1289-15T>C rs2149466614
NM_004370.6(COL12A1):c.1289-18C>G
NM_004370.6(COL12A1):c.1289-19A>G rs2533569465
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=) rs1582197367
NM_004370.6(COL12A1):c.1326G>A (p.Val442=)
NM_004370.6(COL12A1):c.1344C>G (p.Ser448=)
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=) rs372285460
NM_004370.6(COL12A1):c.1383C>G (p.Ala461=) rs2533568576
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=) rs2149466384
NM_004370.6(COL12A1):c.141A>G (p.Lys47=) rs2149482731
NM_004370.6(COL12A1):c.1431C>A (p.Val477=)
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=) rs762385473
NM_004370.6(COL12A1):c.1455C>T (p.Ser485=)
NM_004370.6(COL12A1):c.1488A>G (p.Lys496=)
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=) rs2533567552
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>T (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=) rs762584656
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=) rs762584656
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=) rs746732541
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=) rs2149466030
NM_004370.6(COL12A1):c.1566A>G (p.Ala522=) rs1223605511
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=) rs1003898953
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=) rs2533566590
NM_004370.6(COL12A1):c.1620T>C (p.Asn540=)
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=) rs761187970
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=) rs2149465844
NM_004370.6(COL12A1):c.1659A>G (p.Ser553=) rs1479476898
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=) rs2149465802
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=) rs2533565589
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=) rs2533565552
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1785T>C (p.His595=) rs2149465524
NM_004370.6(COL12A1):c.1788G>A (p.Val596=) rs1769408048
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=) rs1484924756
NM_004370.6(COL12A1):c.1860T>C (p.Ile620=) rs2533564300
NM_004370.6(COL12A1):c.1891+13T>C rs2533564011
NM_004370.6(COL12A1):c.1891+14G>A rs2533564000
NM_004370.6(COL12A1):c.1892-6dup rs753233369
NM_004370.6(COL12A1):c.1892-7T>C rs779185109
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT rs560088357
NM_004370.6(COL12A1):c.190+11A>G rs1364667700
NM_004370.6(COL12A1):c.190+18G>A rs2533631013
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=) rs1769263441
NM_004370.6(COL12A1):c.191-16C>A rs2149479283
NM_004370.6(COL12A1):c.191-8A>G rs2533617664
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=) rs2149462302
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=) rs2149462277
NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn) rs751496600
NM_004370.6(COL12A1):c.198T>C (p.Pro66=) rs2533617579
NM_004370.6(COL12A1):c.2001G>A (p.Lys667=)
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=) rs1582191777
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=) rs1039108581
NM_004370.6(COL12A1):c.207A>G (p.Glu69=) rs2149479234
NM_004370.6(COL12A1):c.2097C>T (p.Val699=)
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser) rs752941721
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=) rs2149461949
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=) rs2149461922
NM_004370.6(COL12A1):c.213C>T (p.Thr71=)
NM_004370.6(COL12A1):c.2145A>G (p.Gly715=) rs2533551497
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys) rs370891083
NM_004370.6(COL12A1):c.2165-4T>C rs2533535261
NM_004370.6(COL12A1):c.2166A>G (p.Val722=)
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=) rs1769054230
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr) rs984509796
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser) rs984509796
NM_004370.6(COL12A1):c.2205T>G (p.Thr735=) rs751706012
NM_004370.6(COL12A1):c.2232T>C (p.Thr744=) rs762216341
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=) rs2149456961
NM_004370.6(COL12A1):c.2260C>A (p.Arg754=) rs1034315777
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=) rs982309132
NM_004370.6(COL12A1):c.228C>T (p.Thr76=) rs1432448789
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=) rs2149456858
NM_004370.6(COL12A1):c.2310C>T (p.Thr770=)
NM_004370.6(COL12A1):c.2335C>T (p.Leu779=)
NM_004370.6(COL12A1):c.2376A>C (p.Val792=)
NM_004370.6(COL12A1):c.2400T>C (p.Pro800=)
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=) rs750671040
NM_004370.6(COL12A1):c.2438-11T>C rs759861565
NM_004370.6(COL12A1):c.2438-20G>A rs1217699779
NM_004370.6(COL12A1):c.2438-5T>C rs1768879542
NM_004370.6(COL12A1):c.2445G>T (p.Gly815=)
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=) rs374489011
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=) rs372378385
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=) rs775341470
NM_004370.6(COL12A1):c.2555C>T (p.Ala852Val)
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met) rs764066205
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=) rs2149451975
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=) rs2149451941
NM_004370.6(COL12A1):c.267G>A (p.Glu89=)
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.6(COL12A1):c.2710+10A>G
NM_004370.6(COL12A1):c.2710+11T>C
NM_004370.6(COL12A1):c.2710+17_2710+18insTA rs372515517
NM_004370.6(COL12A1):c.2710+8C>A rs2533515892
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA rs2149451710
NM_004370.6(COL12A1):c.2711-9C>A rs2149439017
NM_004370.6(COL12A1):c.2739T>A (p.Thr913=)
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=) rs1768261405
NM_004370.6(COL12A1):c.2766G>T (p.Gly922=) rs1768261405
NM_004370.6(COL12A1):c.2787A>G (p.Pro929=) rs780559642
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His) rs779848906
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=) rs1401928160
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=) rs375540397
NM_004370.6(COL12A1):c.2856T>C (p.Asn952=) rs2533470219
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=) rs930413173
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=) rs2533470146
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=) rs2533469743
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=) rs2533469709
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483
NM_004370.6(COL12A1):c.2976A>C (p.Thr992=) rs2533469096
NM_004370.6(COL12A1):c.2983+12_2983+14del rs2533468913
NM_004370.6(COL12A1):c.2984-18C>A rs373187867
NM_004370.6(COL12A1):c.2984-18C>G rs373187867
NM_004370.6(COL12A1):c.303A>G (p.Glu101=)
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=) rs753423916
NM_004370.6(COL12A1):c.3060A>G (p.Pro1020=)
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile) rs200985706
NM_004370.6(COL12A1):c.3102G>C (p.Gly1034=)
NM_004370.6(COL12A1):c.3130C>T (p.Pro1044Ser) rs200490883
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=) rs1582146956
NM_004370.6(COL12A1):c.3147G>A (p.Ser1049=)
NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=) rs369168979
NM_004370.6(COL12A1):c.3231G>A (p.Arg1077=)
NM_004370.6(COL12A1):c.3250+16T>G rs1554183547
NM_004370.6(COL12A1):c.3250+7AAT[2] rs778868677
NM_004370.6(COL12A1):c.3251-17T>A
NM_004370.6(COL12A1):c.3251-8C>T rs754632351
NM_004370.6(COL12A1):c.3279C>A (p.Leu1093=) rs536622585
NM_004370.6(COL12A1):c.330A>G (p.Leu110=) rs2149479020
NM_004370.6(COL12A1):c.334+13A>T rs991483498
NM_004370.6(COL12A1):c.335-12G>A
NM_004370.6(COL12A1):c.335-15A>G rs2533613854
NM_004370.6(COL12A1):c.335-20A>G
NM_004370.6(COL12A1):c.335-22TAA[2] rs781308720
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=) rs776878636
NM_004370.6(COL12A1):c.3366C>T (p.His1122=) rs2149423139
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=) rs749287034
NM_004370.6(COL12A1):c.3372G>C (p.Thr1124=) rs749287034
NM_004370.6(COL12A1):c.33C>G (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.33C>T (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.3420C>G (p.Asn1140Lys)
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=) rs752420015
NM_004370.6(COL12A1):c.342A>G (p.Thr114=) rs2149478404
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=) rs2533420334
NM_004370.6(COL12A1):c.3443+20G>C
NM_004370.6(COL12A1):c.3444-15A>G rs2533413686
NM_004370.6(COL12A1):c.3453C>A (p.Thr1151=) rs761059583
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His) rs764153192
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=) rs2533413158
NM_004370.6(COL12A1):c.351G>A (p.Ser117=)
NM_004370.6(COL12A1):c.351G>T (p.Ser117=) rs1219266101
NM_004370.6(COL12A1):c.3528C>A (p.Thr1176=)
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=) rs747982811
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=) rs373031547
NM_004370.6(COL12A1):c.3561T>A (p.Ser1187=) rs1582143439
NM_004370.6(COL12A1):c.3565+11G>A rs1297040946
NM_004370.6(COL12A1):c.3566-16A>G
NM_004370.6(COL12A1):c.3566-19C>G rs779797627
NM_004370.6(COL12A1):c.3566-5G>A rs2149417897
NM_004370.6(COL12A1):c.3566-7A>G rs1468516680
NM_004370.6(COL12A1):c.3566-8C>G rs201709757
NM_004370.6(COL12A1):c.3566-8C>T rs201709757
NM_004370.6(COL12A1):c.3579C>T (p.Leu1193=)
NM_004370.6(COL12A1):c.3588T>C (p.Ala1196=)
NM_004370.6(COL12A1):c.3646A>C (p.Arg1216=) rs2533402435
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.3659G>A (p.Ser1220Asn)
NM_004370.6(COL12A1):c.366G>A (p.Glu122=) rs2533613478
NM_004370.6(COL12A1):c.36G>A (p.Leu12=) rs1353311587
NM_004370.6(COL12A1):c.36G>T (p.Leu12=) rs1353311587
NM_004370.6(COL12A1):c.3715+12C>T
NM_004370.6(COL12A1):c.3715+17T>C rs1424914945
NM_004370.6(COL12A1):c.3716-10G>T rs1266406462
NM_004370.6(COL12A1):c.3716-20T>C rs1176638204
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3817G>A (p.Gly1273Arg)
NM_004370.6(COL12A1):c.3835+11A>C
NM_004370.6(COL12A1):c.3918C>T (p.Leu1306=) rs1442512910
NM_004370.6(COL12A1):c.3939A>G (p.Gln1313=)
NM_004370.6(COL12A1):c.394+11C>T rs2533613133
NM_004370.6(COL12A1):c.394+13C>T
NM_004370.6(COL12A1):c.394+16A>G rs966863892
NM_004370.6(COL12A1):c.394+18T>C
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=) rs570245614
NM_004370.6(COL12A1):c.395-14C>A
NM_004370.6(COL12A1):c.395-19G>C rs565833825
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=) rs1767510193
NM_004370.6(COL12A1):c.39C>A (p.Gly13=)
NM_004370.6(COL12A1):c.4000+14A>G rs1158487390
NM_004370.6(COL12A1):c.4001-18A>G
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=) rs1425739513
NM_004370.6(COL12A1):c.4010A>T (p.Asn1337Ile) rs1187079906
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=) rs1582137847
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=) rs2149415478
NM_004370.6(COL12A1):c.4050T>C (p.Pro1350=) rs2533394276
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=) rs992754948
NM_004370.6(COL12A1):c.4074G>T (p.Val1358=)
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=) rs745813975
NM_004370.6(COL12A1):c.4148-15dup rs1227725033
NM_004370.6(COL12A1):c.4148-20C>A rs1767317341
NM_004370.6(COL12A1):c.4148-4G>C rs146899194
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=) rs2149410580
NM_004370.6(COL12A1):c.423G>A (p.Leu141=) rs755912419
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=) rs2149410457
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=) rs1767306295
NM_004370.6(COL12A1):c.4287+11A>G rs2533376983
NM_004370.6(COL12A1):c.4287+14C>A rs2533376942
NM_004370.6(COL12A1):c.4287+15C>G rs2533376921
NM_004370.6(COL12A1):c.4287+7A>T
NM_004370.6(COL12A1):c.4288-10T>C rs776440408
NM_004370.6(COL12A1):c.4288-15A>G rs2149409487
NM_004370.6(COL12A1):c.4288-6C>G rs768371908
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=) rs2149409419
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=) rs975876036
NM_004370.6(COL12A1):c.42G>C (p.Ala14=) rs758961396
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=) rs2149409308
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=) rs2149409308
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=) rs2533372214
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=) rs2149409171
NM_004370.6(COL12A1):c.4401G>A (p.Lys1467=) rs2533371942
NM_004370.6(COL12A1):c.4404G>A (p.Gly1468=) rs749476681
NM_004370.6(COL12A1):c.4404G>T (p.Gly1468=)
NM_004370.6(COL12A1):c.4417+9G>A rs2533371679
NM_004370.6(COL12A1):c.4418-18G>C rs2533364012
NM_004370.6(COL12A1):c.4418-20C>G rs2149407223
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=) rs2533363960
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=) rs2533363667
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn) rs771864984
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=) rs763276220
NM_004370.6(COL12A1):c.4467C>G (p.Thr1489=) rs773622956
NM_004370.6(COL12A1):c.4473T>C (p.His1491=) rs1435976004
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=) rs2149407078
NM_004370.6(COL12A1):c.4518A>C (p.Ser1506=) rs201039857
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala) rs1367514850
NM_004370.6(COL12A1):c.4560+13T>C
NM_004370.6(COL12A1):c.4561-14A>G
NM_004370.6(COL12A1):c.4561-18C>T rs748934261
NM_004370.6(COL12A1):c.4561-7T>C rs1767131648
NM_004370.6(COL12A1):c.4561-7_4561-2del rs1582127639
NM_004370.6(COL12A1):c.4561-9C>A
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly) rs574863380
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=) rs1767129736
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=) rs762128925
NM_004370.6(COL12A1):c.459A>G (p.Arg153=) rs2533604323
NM_004370.6(COL12A1):c.4605T>C (p.Leu1535=)
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys) rs373216375
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=) rs367865394
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=) rs2533356671
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln) rs754993978
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=) rs2149405550
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=) rs1767122370
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=) rs1767121915
NM_004370.6(COL12A1):c.4690+19T>C rs2533356221
NM_004370.6(COL12A1):c.4690+9C>T rs1402791977
NM_004370.6(COL12A1):c.4691-13C>G rs371962953
NM_004370.6(COL12A1):c.4691-16T>G rs750281471
NM_004370.6(COL12A1):c.4691-20A>C rs2533346637
NM_004370.6(COL12A1):c.46C>T (p.Leu16=) rs2533666495
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4743T>C (p.Thr1581=)
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=) rs2533345843
NM_004370.6(COL12A1):c.4827+12A>G rs2533345222
NM_004370.6(COL12A1):c.4827+16T>G rs535965773
NM_004370.6(COL12A1):c.4828-13G>A
NM_004370.6(COL12A1):c.4828-19T>C rs1766928289
NM_004370.6(COL12A1):c.4828-8T>C rs1766927446
NM_004370.6(COL12A1):c.483C>T (p.Asp161=) rs1769829163
NM_004370.6(COL12A1):c.4842A>G (p.Arg1614=)
NM_004370.6(COL12A1):c.4849A>G (p.Thr1617Ala)
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=) rs1309712355
NM_004370.6(COL12A1):c.4898G>A (p.Ser1633Asn) rs1447209458
NM_004370.6(COL12A1):c.4922G>A (p.Gly1641Glu)
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=) rs1582121295
NM_004370.6(COL12A1):c.4958-16C>T rs1766762555
NM_004370.6(COL12A1):c.4958-4A>T rs778863880
NM_004370.6(COL12A1):c.4958-7A>G rs1332779
NM_004370.6(COL12A1):c.498T>G (p.Leu166=)
NM_004370.6(COL12A1):c.5001A>G (p.Thr1667=)
NM_004370.6(COL12A1):c.5010T>G (p.Gly1670=) rs2533320653
NM_004370.6(COL12A1):c.5040A>G (p.Ser1680=) rs2533320468
NM_004370.6(COL12A1):c.5049T>C (p.Ser1683=) rs765207147
NM_004370.6(COL12A1):c.504T>G (p.Ser168=) rs371436873
NM_004370.6(COL12A1):c.5061A>T (p.Ile1687=)
NM_004370.6(COL12A1):c.5098-10T>C rs968352189
NM_004370.6(COL12A1):c.5098-17T>C rs1405479182
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=) rs1766737359
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=) rs776561287
NM_004370.6(COL12A1):c.5230+19A>G
NM_004370.6(COL12A1):c.5231-18A>C
NM_004370.6(COL12A1):c.5231-8T>C rs1766724577
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=) rs979503995
NM_004370.6(COL12A1):c.5252-11T>C rs776225961
NM_004370.6(COL12A1):c.5252-12A>C rs747721408
NM_004370.6(COL12A1):c.5252-14C>T rs2533311829
NM_004370.6(COL12A1):c.5252-5T>C
NM_004370.6(COL12A1):c.5252-7C>A rs2533311733
NM_004370.6(COL12A1):c.5252-9T>G
NM_004370.6(COL12A1):c.5256C>G (p.Pro1752=) rs2533311664
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=) rs374747725
NM_004370.6(COL12A1):c.5283G>A (p.Val1761=)
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=) rs2149394288
NM_004370.6(COL12A1):c.5328T>A (p.Ala1776=)
NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=) rs1422128161
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=) rs2149394158
NM_004370.6(COL12A1):c.5394+15A>C rs2533310198
NM_004370.6(COL12A1):c.5394+20T>C
NM_004370.6(COL12A1):c.5395-14C>G rs781463753
NM_004370.6(COL12A1):c.5395-15C>G
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=) rs1470703983
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=) rs2533295605
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=) rs2533295422
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=) rs373978519
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.546T>G (p.Val182=) rs764254293
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=) rs766269568
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=) rs1582107388
NM_004370.6(COL12A1):c.5524+13T>G rs2533294476
NM_004370.6(COL12A1):c.5524+18T>C
NM_004370.6(COL12A1):c.5525-11G>A rs375380199
NM_004370.6(COL12A1):c.5525-18G>T rs2533289513
NM_004370.6(COL12A1):c.5550G>A (p.Leu1850=)
NM_004370.6(COL12A1):c.5578T>C (p.Leu1860=)
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=) rs2149388082
NM_004370.6(COL12A1):c.561T>C (p.Asp187=) rs776044625
NM_004370.6(COL12A1):c.5662C>T (p.Leu1888=) rs2533288429
NM_004370.6(COL12A1):c.5664+16_5664+35del rs1333051927
NM_004370.6(COL12A1):c.5664+18T>G
NM_004370.6(COL12A1):c.5665-19G>A rs903881382
NM_004370.6(COL12A1):c.5665-6C>A rs752533898
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=) rs1766410465
NM_004370.6(COL12A1):c.5694C>T (p.Ala1898=) rs2533285440
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=) rs1582103755
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=) rs372890352
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=) rs780813171
NM_004370.6(COL12A1):c.5751T>C (p.Tyr1917=) rs1766405618
NM_004370.6(COL12A1):c.5790G>A (p.Arg1930=) rs2149387040
NM_004370.6(COL12A1):c.5794+8A>G
NM_004370.6(COL12A1):c.5795-16G>A rs2533277822
NM_004370.6(COL12A1):c.580T>C (p.Leu194=) rs2149475695
NM_004370.6(COL12A1):c.5817T>C (p.Asn1939=) rs762625090
NM_004370.6(COL12A1):c.5826A>G (p.Val1942=) rs946595569
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser) rs191233787
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu) rs768626277
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn) rs771175230
NM_004370.6(COL12A1):c.5853T>C (p.Asp1951=)
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=) rs594012
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His) rs199747984
NM_004370.6(COL12A1):c.5937+14T>A rs2149385207
NM_004370.6(COL12A1):c.5937+16A>G
NM_004370.6(COL12A1):c.5937+17T>C rs1023564287
NM_004370.6(COL12A1):c.5937+19del
NM_004370.6(COL12A1):c.5938-9C>T rs1166562974
NM_004370.6(COL12A1):c.593A>G (p.Tyr198Cys)
NM_004370.6(COL12A1):c.5940A>C (p.Ile1980=)
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=) rs2149383950
NM_004370.6(COL12A1):c.5949A>G (p.Pro1983=)
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser) rs373170333
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His) rs201827443
NM_004370.6(COL12A1):c.5982G>A (p.Leu1994=) rs1031342097
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=) rs111547439
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln) rs1265886692
NM_004370.6(COL12A1):c.600G>A (p.Arg200=) rs2149475654
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=) rs747130111
NM_004370.6(COL12A1):c.6060C>T (p.Gly2020=) rs777538791
NM_004370.6(COL12A1):c.6067+17T>C
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=) rs2533265836
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=) rs909100621
NM_004370.6(COL12A1):c.6144T>A (p.Ala2048=) rs748509862
NM_004370.6(COL12A1):c.6171C>T (p.Ile2057=) rs2533264823
NM_004370.6(COL12A1):c.6210+12A>G
NM_004370.6(COL12A1):c.6210+20A>G
NM_004370.6(COL12A1):c.6211-10T>A rs1175645715
NM_004370.6(COL12A1):c.6211-11T>G
NM_004370.6(COL12A1):c.6211-19A>C rs2533255758
NM_004370.6(COL12A1):c.6216A>G (p.Thr2072=)
NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=) rs2533255355
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=) rs2533255334
NM_004370.6(COL12A1):c.6252C>G (p.Pro2084=)
NM_004370.6(COL12A1):c.6264C>T (p.Asp2088=)
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=) rs1403624483
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=) rs2149379927
NM_004370.6(COL12A1):c.6312T>C (p.Gly2104=) rs2533254725
NM_004370.6(COL12A1):c.6318T>C (p.His2106=) rs2533254597
NM_004370.6(COL12A1):c.6340+11T>A
NM_004370.6(COL12A1):c.6340+12G>C rs749187959
NM_004370.6(COL12A1):c.6340+18C>A
NM_004370.6(COL12A1):c.6341-22GT[2]
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His) rs1424010902
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=) rs371734128
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu) rs769755656
NM_004370.6(COL12A1):c.6435A>G (p.Gly2145=)
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=) rs757397618
NM_004370.6(COL12A1):c.6447A>G (p.Val2149=)
NM_004370.6(COL12A1):c.6460+10_6460+11dup rs2149377067
NM_004370.6(COL12A1):c.6501A>T (p.Thr2167=) rs2533237063
NM_004370.6(COL12A1):c.6516C>T (p.His2172=)
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=) rs1486712607
NM_004370.6(COL12A1):c.658+10A>G rs2149475491
NM_004370.6(COL12A1):c.658+13G>A rs1341256371
NM_004370.6(COL12A1):c.658+14A>G
NM_004370.6(COL12A1):c.659-10T>C
NM_004370.6(COL12A1):c.659-8C>T rs1341770677
NM_004370.6(COL12A1):c.6607+14A>C
NM_004370.6(COL12A1):c.6607+14A>T rs1478787519
NM_004370.6(COL12A1):c.6607+7C>T rs200137806
NM_004370.6(COL12A1):c.6608-19T>C rs2149374329
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=) rs1345213553
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=) rs2533231809
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=) rs2149374132
NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=) rs2533231070
NM_004370.6(COL12A1):c.6724+11A>G rs1398653047
NM_004370.6(COL12A1):c.6725-13T>C
NM_004370.6(COL12A1):c.6725-16T>C rs2533229869
NM_004370.6(COL12A1):c.6725-18C>A rs776201248
NM_004370.6(COL12A1):c.6725-6_6725-4del rs2149373848
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=) rs1418152817
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=) rs1765889227
NM_004370.6(COL12A1):c.6735A>G (p.Gly2245=)
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=) rs2149373749
NM_004370.6(COL12A1):c.6759A>G (p.Ser2253=)
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=) rs1765886657
NM_004370.6(COL12A1):c.6871+14G>A rs1202390452
NM_004370.6(COL12A1):c.6871+20G>T rs2533228341
NM_004370.6(COL12A1):c.6872-14T>C rs2533225500
NM_004370.6(COL12A1):c.6872-17T>C
NM_004370.6(COL12A1):c.6894T>A (p.Pro2298=)
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=) rs1194108575
NM_004370.6(COL12A1):c.6942G>A (p.Arg2314=)
NM_004370.6(COL12A1):c.6946+17A>G
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA rs2149372484
NM_004370.6(COL12A1):c.6947-12C>T rs2533214905
NM_004370.6(COL12A1):c.6947-5T>C rs2533214796
NM_004370.6(COL12A1):c.6947-6T>G rs200538799
NM_004370.6(COL12A1):c.6948A>G (p.Val2316=)
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=) rs1364212431
NM_004370.6(COL12A1):c.6978C>T (p.Phe2326=)
NM_004370.6(COL12A1):c.6999C>T (p.Ser2333=)
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=) rs2149369622
NM_004370.6(COL12A1):c.7017T>C (p.Phe2339=) rs2533214140
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751
NM_004370.6(COL12A1):c.702T>C (p.Ser234=) rs1476597997
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=) rs2149369561
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=) rs1055080261
NM_004370.6(COL12A1):c.7086+10del rs2533213421
NM_004370.6(COL12A1):c.7086+15dup
NM_004370.6(COL12A1):c.7087-11T>A rs2149366872
NM_004370.6(COL12A1):c.7087-16del rs2533203716
NM_004370.6(COL12A1):c.7087-6C>T rs2533203536
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=) rs2149366781
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=) rs2149366759
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=) rs2149366746
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=) rs2149366727
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=) rs1341479107
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=) rs2533202347
NM_004370.6(COL12A1):c.7210+19C>G rs747884107
NM_004370.6(COL12A1):c.7210+7G>A rs2533202147
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=) rs2149366384
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=) rs2533199856
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.73+13C>T
NM_004370.6(COL12A1):c.73+19C>T rs2533666214
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=) rs2149366203
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=) rs2533199353
NM_004370.6(COL12A1):c.732G>T (p.Val244=)
NM_004370.6(COL12A1):c.7355-10T>C
NM_004370.6(COL12A1):c.7355-11C>T rs2533191392
NM_004370.6(COL12A1):c.7355-12G>A
NM_004370.6(COL12A1):c.7355-17T>C rs2533191459
NM_004370.6(COL12A1):c.7355-18A>C rs2533191472
NM_004370.6(COL12A1):c.7355-19T>G rs2533191484
NM_004370.6(COL12A1):c.7355-4G>T rs2149363736
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=) rs752364689
NM_004370.6(COL12A1):c.7365C>T (p.Val2455=) rs2533191201
NM_004370.6(COL12A1):c.7371A>G (p.Val2457=)
NM_004370.6(COL12A1):c.7389C>G (p.Val2463=)
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=) rs545442226
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=) rs2533190884
NM_004370.6(COL12A1):c.74-15CT[3] rs756206757
NM_004370.6(COL12A1):c.74-17A>C
NM_004370.6(COL12A1):c.74-18A>G rs2149482912
NM_004370.6(COL12A1):c.7401G>A (p.Glu2467=) rs1022376428
NM_004370.6(COL12A1):c.7431A>G (p.Glu2477=)
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=) rs2149363505
NM_004370.6(COL12A1):c.7519+17A>G rs2149363447
NM_004370.6(COL12A1):c.7519+18T>A rs2149363442
NM_004370.6(COL12A1):c.7558+12T>C
NM_004370.6(COL12A1):c.7558+15T>G
NM_004370.6(COL12A1):c.7558+7A>C
NM_004370.6(COL12A1):c.7559-16C>T
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=) rs2149361484
NM_004370.6(COL12A1):c.7584C>T (p.Asn2528=)
NM_004370.6(COL12A1):c.7605T>C (p.Ala2535=)
NM_004370.6(COL12A1):c.7608T>C (p.Ser2536=)
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=) rs2149361397
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=) rs542659971
NM_004370.6(COL12A1):c.765T>C (p.Asp255=) rs2149475018
NM_004370.6(COL12A1):c.7697+18_7697+20del rs1209114574
NM_004370.6(COL12A1):c.7697+19G>A rs2533180385
NM_004370.6(COL12A1):c.7697+9G>A
NM_004370.6(COL12A1):c.7698-14G>T rs1562140303
NM_004370.6(COL12A1):c.7698-18_7698-15del rs2533169210
NM_004370.6(COL12A1):c.7698-6C>T rs1582070030
NM_004370.6(COL12A1):c.7698-8T>C
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=) rs772064054
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=) rs745685013
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu) rs201158030
NM_004370.6(COL12A1):c.7840+9T>G rs774128333
NM_004370.6(COL12A1):c.7841-4A>G rs1379441265
NM_004370.6(COL12A1):c.7845T>C (p.Ser2615=)
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=) rs201337277
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.6(COL12A1):c.789G>A (p.Glu263=) rs2149474985
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=) rs2533164467
NM_004370.6(COL12A1):c.7950+10_7950+11del rs762026995
NM_004370.6(COL12A1):c.7951-14_7951-13del rs745783404
NM_004370.6(COL12A1):c.7980T>C (p.Val2660=) rs1768709303
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=) rs2533144295
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=) rs2149353076
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=) rs2149352990
NM_004370.6(COL12A1):c.8100+14T>A rs750417570
NM_004370.6(COL12A1):c.8101-16T>C rs757858823
NM_004370.6(COL12A1):c.8101-7T>C
NM_004370.6(COL12A1):c.8101-8G>C
NM_004370.6(COL12A1):c.8136A>G (p.Pro2712=) rs757134644
NM_004370.6(COL12A1):c.8179-11C>A
NM_004370.6(COL12A1):c.8179-15T>C rs1432887620
NM_004370.6(COL12A1):c.8179-16C>A rs1338603176
NM_004370.6(COL12A1):c.823+15G>C rs758763005
NM_004370.6(COL12A1):c.823+15G>T rs758763005
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA rs2533600333
NM_004370.6(COL12A1):c.823+19A>G rs1769794644
NM_004370.6(COL12A1):c.823+8A>C rs1769795222
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=) rs1582055336
NM_004370.6(COL12A1):c.8235C>T (p.Ser2745=)
NM_004370.6(COL12A1):c.824-20C>G rs369499035
NM_004370.6(COL12A1):c.824-20C>T rs369499035
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=) rs2533119200
NM_004370.6(COL12A1):c.8265+20T>A rs1768487243
NM_004370.6(COL12A1):c.8266-14T>A rs2533110609
NM_004370.6(COL12A1):c.8266-8T>C rs1274360736
NM_004370.6(COL12A1):c.8319+15G>A
NM_004370.6(COL12A1):c.8319+16_8319+17del rs2533109993
NM_004370.6(COL12A1):c.8320-12del rs1436326715
NM_004370.6(COL12A1):c.8320-16C>G rs779308474
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=) rs2533103705
NM_004370.6(COL12A1):c.8415+12G>A rs2149344185
NM_004370.6(COL12A1):c.8415+13C>T rs2149344182
NM_004370.6(COL12A1):c.8415+17T>C rs2149344172
NM_004370.6(COL12A1):c.8416-17C>T rs2533099499
NM_004370.6(COL12A1):c.8416-8C>A rs775559307
NM_004370.6(COL12A1):c.8436T>C (p.Gly2812=)
NM_004370.6(COL12A1):c.8442T>C (p.Ala2814=)
NM_004370.6(COL12A1):c.8469+20G>A
NM_004370.6(COL12A1):c.8470-12C>T rs762066101
NM_004370.6(COL12A1):c.8475C>G (p.Thr2825=)
NM_004370.6(COL12A1):c.8493A>G (p.Pro2831=) rs2533095829
NM_004370.6(COL12A1):c.8521A>C (p.Arg2841=)
NM_004370.6(COL12A1):c.8523+17del rs2533095486
NM_004370.6(COL12A1):c.8524-12dup rs1261200705
NM_004370.6(COL12A1):c.8524-15dup rs2149337428
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=) rs1343632710
NM_004370.6(COL12A1):c.8547A>G (p.Ala2849=)
NM_004370.6(COL12A1):c.8573C>T (p.Pro2858Leu) rs764992627
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=) rs1424387745
NM_004370.6(COL12A1):c.8577+20C>T rs1194003667
NM_004370.6(COL12A1):c.8578-11A>T
NM_004370.6(COL12A1):c.8578-19C>G rs2533059281
NM_004370.6(COL12A1):c.8578-8T>C rs2149333586
NM_004370.6(COL12A1):c.8601C>T (p.Val2867=) rs2533058571
NM_004370.6(COL12A1):c.8613T>C (p.Ser2871=) rs1262034183
NM_004370.6(COL12A1):c.8645G>C (p.Arg2882Thr)
NM_004370.6(COL12A1):c.8649+10C>G rs2533058006
NM_004370.6(COL12A1):c.8649+13C>A rs2533057988
NM_004370.6(COL12A1):c.8649+13C>G rs2533057988
NM_004370.6(COL12A1):c.8649+16G>C rs1470399366
NM_004370.6(COL12A1):c.8650-14T>A rs1767767670
NM_004370.6(COL12A1):c.8650-19T>C rs79461746
NM_004370.6(COL12A1):c.8650-20A>C rs1281657456
NM_004370.6(COL12A1):c.867C>T (p.Ser289=) rs2533596584
NM_004370.6(COL12A1):c.8685+13A>T rs368910082
NM_004370.6(COL12A1):c.8685+17A>G rs762116400
NM_004370.6(COL12A1):c.8685+18A>G rs2149328733
NM_004370.6(COL12A1):c.8685+8T>C rs763115734
NM_004370.6(COL12A1):c.8686-6A>G rs780369344
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=) rs2533038445
NM_004370.6(COL12A1):c.8742A>G (p.Gln2914=)
NM_004370.6(COL12A1):c.8752+14T>C rs2533037844
NM_004370.6(COL12A1):c.8752+9del rs2533037946
NM_004370.6(COL12A1):c.8813G>A (p.Arg2938His) rs752206319
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=) rs749283021
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=) rs2149327016
NM_004370.6(COL12A1):c.8832G>T (p.Pro2944=)
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=) rs2149327011
NM_004370.6(COL12A1):c.8838A>G (p.Pro2946=)
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=) rs2149326931
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=) rs942666795
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=) rs774577979
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=) rs760317754
NM_004370.6(COL12A1):c.8891G>A (p.Arg2964Gln)
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=) rs2149326803
NM_004370.6(COL12A1):c.892A>C (p.Asn298His) rs1404705545
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=) rs2149326774
NM_004370.6(COL12A1):c.8941+14G>C rs1362916160
NM_004370.6(COL12A1):c.8942-5C>A rs777153936
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=) rs1281725784
NM_004370.6(COL12A1):c.9011-20T>A rs1336319358
NM_004370.6(COL12A1):c.9011-20_9011-19del rs1393573028
NM_004370.6(COL12A1):c.9011-4C>T
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=) rs754761310
NM_004370.6(COL12A1):c.903C>T (p.Asn301=)
NM_004370.6(COL12A1):c.9066C>T (p.Pro3022=)
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=) rs572512247
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu) rs1239982144
NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=) rs2533014118
NM_004370.6(COL12A1):c.9181+11G>A rs1477952944
NM_004370.6(COL12A1):c.9181+12C>G
NM_004370.6(COL12A1):c.9181+16T>C rs2533013721
NM_004370.6(COL12A1):c.9182-11A>G rs763434722
NM_004370.6(COL12A1):c.9182-19C>A rs1767498861
NM_004370.6(COL12A1):c.985A>G (p.Ser329Gly)
NM_004370.6(COL12A1):c.997+11T>C
NM_004370.6(COL12A1):c.997+15T>G rs2149473736
NM_004370.6(COL12A1):c.997+7A>G rs2533595387
NM_004370.6(COL12A1):c.998-15C>T rs2533573927
NM_004370.6(COL12A1):c.998-17T>C rs1054205917
NM_004370.6(COL12A1):c.998-20G>A

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