ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1242
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
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.5308A>G (p.Thr1770Ala) rs192345009 0.00015
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.5369C>G (p.Ser1790Cys) rs199684959 0.00009
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg) rs540867293 0.00007
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro) rs373259425 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7698-3C>T rs760246080 0.00006
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 0.00005
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.2164+6A>T rs746467248 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val) rs944222774 0.00004
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile) rs374525546 0.00004
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile) rs772992461 0.00004
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428 0.00004
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His) rs748487098 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala) rs760315104 0.00004
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219 0.00004
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=) rs751540913 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 0.00004
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser) rs747966606 0.00004
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522 0.00004
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser) rs772870762 0.00004
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr) rs773855825 0.00004
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val) rs1199162597 0.00004
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634 0.00004
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966 0.00003
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu) rs199503279 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927 0.00003
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=) rs775579405 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=) rs900917198 0.00003
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr) rs1223531902 0.00002
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn) rs759182254 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 0.00002
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121 0.00002
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser) rs932009209 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.2984-2A>G rs760316411 0.00002
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly) rs1385334403 0.00002
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189 0.00002
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr) rs757943935 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser) rs750263276 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg) rs781184043 0.00002
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr) rs780457606 0.00002
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904 0.00002
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile) rs780955667 0.00001
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val) rs780247302 0.00001
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys) rs1769480073 0.00001
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile) rs922525519 0.00001
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg) rs1210901422 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala) rs1310849098 0.00001
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys) rs970722197 0.00001
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_004370.6(COL12A1):c.1289-3C>T rs375570066 0.00001
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser) rs771816024 0.00001
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile) rs368199250 0.00001
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu) rs770461984 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly) rs1445434863 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086 0.00001
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr) rs1292052246 0.00001
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys) rs1440470491 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile) rs758637945 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln) rs1478514196 0.00001
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413 0.00001
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe) rs1031869609 0.00001
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met) rs749609293 0.00001
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala) rs758201181 0.00001
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe) rs756368336 0.00001
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile) rs1318884120 0.00001
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn) rs1198986280 0.00001
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=) rs370677855 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp) rs931765391 0.00001
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala) rs941358850 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu) rs368537733 0.00001
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu) rs375671490 0.00001
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met) rs780466316 0.00001
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu) rs539562135 0.00001
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319 0.00001
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly) rs371518967 0.00001
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085 0.00001
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val) rs774904567 0.00001
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His) rs1768261055 0.00001
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His) rs370188326 0.00001
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His) rs1477957297 0.00001
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser) rs944768236 0.00001
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720 0.00001
NM_004370.6(COL12A1):c.2984-3C>T rs1394199507 0.00001
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys) rs774087407 0.00001
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys) rs760621245 0.00001
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883 0.00001
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile) rs1376226675 0.00001
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala) rs1767720355 0.00001
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys) rs1337121359 0.00001
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp) rs749832842 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu) rs753747530 0.00001
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn) rs1003693918 0.00001
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu) rs990441297 0.00001
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748 0.00001
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met) rs1305647848 0.00001
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile) rs751811370 0.00001
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270 0.00001
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp) rs1183950908 0.00001
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val) rs1056626609 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val) rs1353013260 0.00001
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser) rs1220345277 0.00001
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val) rs1267769116 0.00001
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu) rs763614780 0.00001
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile) rs767232468 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu) rs74383804 0.00001
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser) rs1044813586 0.00001
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn) rs780006734 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln) rs775117257 0.00001
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val) rs1172593477 0.00001
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu) rs751657895 0.00001
NM_004370.6(COL12A1):c.511G>C (p.Asp171His) rs748076280 0.00001
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile) rs370108747 0.00001
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser) rs1329724602 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.5251+4A>G rs781348212 0.00001
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys) rs374747725 0.00001
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile) rs201205563 0.00001
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784 0.00001
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865 0.00001
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604 0.00001
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926 0.00001
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser) rs749681990 0.00001
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr) rs1479368774 0.00001
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg) rs371970739 0.00001
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala) rs750426294 0.00001
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile) rs1239883407 0.00001
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly) rs1370422060 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362 0.00001
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr) rs1162295476 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 0.00001
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu) rs1179773170 0.00001
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His) rs1769820873 0.00001
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met) rs376487916 0.00001
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616 0.00001
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met) rs181357263 0.00001
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro) rs1023244422 0.00001
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu) rs373325814 0.00001
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930 0.00001
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln) rs1769819268 0.00001
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu) rs1366573056 0.00001
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val) rs1339963289 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461 0.00001
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro) rs1298620930 0.00001
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile) rs1158867383 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met) rs1434449708 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys) rs1233096096 0.00001
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val) rs372896052 0.00001
NM_004370.6(COL12A1):c.7210+4T>G rs201950823 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.747G>A (p.Thr249=) rs553802363 0.00001
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala) rs770874037 0.00001
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963 0.00001
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val) rs780133855 0.00001
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu) rs775522044 0.00001
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg) rs770613686 0.00001
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val) rs781269301 0.00001
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly) rs1263587165 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr) rs767580803 0.00001
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys) rs1384761865 0.00001
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile) rs775684324 0.00001
NM_004370.6(COL12A1):c.7950+9A>G rs778327157 0.00001
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 0.00001
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly) rs1011310040 0.00001
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579 0.00001
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly) rs368105517 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser) rs376931672 0.00001
NM_004370.6(COL12A1):c.8524-3T>C rs755782718 0.00001
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155 0.00001
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr) rs1427337137 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile) rs1273649550 0.00001
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492 0.00001
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser) rs1216270127 0.00001
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu) rs771010070 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln) rs778638053 0.00001
NM_004370.6(COL12A1):c.997+6T>C rs377225744 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
NC_000006.11:g.(?_75796253)_(75855181_?)del
NC_000006.11:g.(?_75796263)_(75813546_?)dup
NC_000006.11:g.(?_75806949)_(75807042_?)del
NC_000006.11:g.(?_75833644)_(75847315_?)del
NC_000006.11:g.(?_75858054)_(75912508_?)dup
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr) rs2149467566
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met) rs2149467444
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile) rs1253680957
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln) rs2149467365
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr) rs779083996
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val) rs1032545730
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter) rs2149467117
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr) rs1325717704
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
NM_004370.6(COL12A1):c.125A>G (p.His42Arg) rs760445921
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn) rs2149466995
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val) rs2149466974
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn) rs1769466109
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu) rs1769450841
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met) rs1769449076
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val) rs2149466346
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln) rs779234808
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val) rs1769434215
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys) rs2149466133
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg) rs2149466076
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr) rs1770137078
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=) rs2149466030
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn) rs2149465941
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met) rs1769421436
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp) rs1769421051
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly) rs2149465853
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly) rs1002113974
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu) rs2149465802
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser) rs775466928
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu) rs2149465788
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val) rs1344964508
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn) rs2149465694
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr) rs2149465694
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala) rs1770135564
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly) rs1356178155
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met) rs962496340
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
NM_004370.6(COL12A1):c.1891+4A>C rs148292262
NM_004370.6(COL12A1):c.1891+6T>C
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser) rs952803259
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu) rs200315815
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
NM_004370.6(COL12A1):c.1921del (p.Ser641fs) rs2149462293
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala) rs1769262393
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=) rs2149462277
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu) rs2149479257
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala) rs2149462234
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs) rs1769258754
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val) rs1769258112
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys) rs2149462161
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser) rs1769255982
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn) rs1233438359
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val) rs2149461913
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro) rs1562315490
NM_004370.6(COL12A1):c.2164+6A>G rs746467248
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr) rs1769052023
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala) rs1769051365
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr) rs750973541
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys) rs2149457038
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter) rs1034315777
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val) rs1769044982
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe) rs2149456891
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala) rs2149456824
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp) rs2149456727
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu) rs2149456708
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile) rs1769035606
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr) rs772493333
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp) rs1769033719
NM_004370.6(COL12A1):c.2437+6G>A rs1769033413
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys) rs371428645
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly) rs1768877676
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala) rs1194621615
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val) rs1489423171
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu) rs2149452205
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu) rs2149452194
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu) rs2149452186
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val) rs2149452026
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu) rs777386471
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg) rs2149451801
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp) rs1768851120
NM_004370.6(COL12A1):c.2711-5T>G
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro) rs369193482
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile) rs1768259480
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu) rs370815575
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly) rs1768252416
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del) rs1768250668
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His) rs752812483
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=) rs1768247192
NM_004370.6(COL12A1):c.2983+1G>T
NM_004370.6(COL12A1):c.2983+2T>G
NM_004370.6(COL12A1):c.2983+3A>C
NM_004370.6(COL12A1):c.2983+3del
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe) rs1582147328
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys) rs1767775935
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr) rs1767775644
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala) rs1767774122
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys) rs2149424485
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg) rs2149424441
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile) rs1767764943
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly) rs2149424377
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu) rs772210650
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter) rs868543538
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys) rs2149424189
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu) rs2149423356
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys) rs1767727217
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe) rs2149423302
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn) rs2149423269
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln) rs2149423255
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp) rs1767721141
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala) rs1272550670
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His) rs2149423214
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
NM_004370.6(COL12A1):c.334+4A>T rs1769967046
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met) rs2149423183
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp) rs1420617553
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
NM_004370.6(COL12A1):c.3444-6T>G
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala) rs770692332
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro) rs1190415160
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
NM_004370.6(COL12A1):c.3565+1G>A
NM_004370.6(COL12A1):c.3566-8C>G rs201709757
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln) rs775382202
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr) rs2149417585
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
NM_004370.6(COL12A1):c.3835+3_3835+6del
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys) rs1387157172
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu) rs1489541121
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr) rs1769938135
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His) rs1769937627
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.394+3G>A
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val) rs557573017
NM_004370.6(COL12A1):c.4000+4C>T rs375772555
NM_004370.6(COL12A1):c.4001-11C>A
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val) rs2149415452
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala) rs1335085130
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn) rs1767469659
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn) rs913180274
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser) rs913180274
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met) rs745813975
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile) rs2149415231
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val) rs2149415217
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser) rs1268978531
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn) rs1033092764
NM_004370.6(COL12A1):c.4147+3A>G
NM_004370.6(COL12A1):c.4147+4A>T
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr) rs2149410743
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del) rs1767315080
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser) rs1767312990
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp) rs758640189
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser) rs779038394
NM_004370.6(COL12A1):c.4287+4A>T rs1767305838
NM_004370.6(COL12A1):c.4288-14A>G
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu) rs779064060
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu) rs1767273965
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr) rs1394611159
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys) rs897954123
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
NM_004370.6(COL12A1):c.4417+4A>G rs2149409130
NM_004370.6(COL12A1):c.4417+5G>A
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile) rs1767188215
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=) rs199901074
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys) rs1767180643
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
NM_004370.6(COL12A1):c.4560+8A>G
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu) rs556742432
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly) rs2149475927
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu) rs1226808307
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys) rs1767128506
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser) rs1028650601
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp) rs367865394
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=) rs1767120492
NM_004370.6(COL12A1):c.4690+5G>A rs1767120188
NM_004370.6(COL12A1):c.4691-8T>A
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser) rs2149402848
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly) rs1767009455
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro) rs373006852
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
NM_004370.6(COL12A1):c.4827+3A>G
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro) rs750511139
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile) rs368180489
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser) rs773883741
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
NM_004370.6(COL12A1):c.4954_4957+2dup
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
NM_004370.6(COL12A1):c.4957+11_4957+12inv
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp) rs1766760179
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu) rs1766757762
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala) rs2149475862
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys) rs1369964113
NM_004370.6(COL12A1):c.5097+6T>A
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val) rs2149475842
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn) rs1766737229
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser) rs530680231
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
NM_004370.6(COL12A1):c.5231-9_5231-8del
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr) rs2149394273
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro) rs748487098
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu) rs1766675850
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser) rs2149394149
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys) rs370767331
NM_004370.6(COL12A1):c.5394+5T>G
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
NM_004370.6(COL12A1):c.5395-10T>C
NM_004370.6(COL12A1):c.5395-14C>G
NM_004370.6(COL12A1):c.5395-17G>A
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu) rs754812998
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile) rs1769824140
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly) rs775456254
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys) rs374927144
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup) rs1766496347
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val) rs2149389596
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
NM_004370.6(COL12A1):c.5525-6T>A
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys) rs1769823295
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn) rs2149475753
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu) rs377417661
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly) rs773807635
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln) rs1242897212
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys) rs1766437313
NM_004370.6(COL12A1):c.5664+3A>G rs2149387981
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser) rs2149387327
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr) rs2149387306
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser) rs1766408982
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala) rs1766405494
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val) rs2149387143
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn) rs1766404958
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser) rs2149387040
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=) rs199632288
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile) rs2149385416
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn) rs2149385355
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr) rs2149385355
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys) rs920578725
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro) rs2149385256
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del) rs1766274789
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys) rs1766270191
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu) rs1013402934
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met) rs1766265495
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg) rs569212577
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr) rs1766227819
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser) rs1253942397
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys) rs769518059
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg) rs2149475605
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met) rs1766123299
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn) rs1403624483
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg) rs1766116749
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=) rs1766115548
NM_004370.6(COL12A1):c.6341-9T>A rs1562169801
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg) rs1766019017
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu) rs1769818108
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr) rs1766015017
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu) rs1277921609
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys) rs1469571574
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
NM_004370.6(COL12A1):c.6460+6G>A
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser) rs1582089703
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr) rs920759306
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys) rs2149375589
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
NM_004370.6(COL12A1):c.652A>G (p.Met218Val) rs2149475531
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg) rs756215547
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+6T>C
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu) rs773548520
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu) rs761964344
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser) rs2149374223
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile) rs1257364285
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe) rs1765905733
NM_004370.6(COL12A1):c.6724+6T>C
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg) rs2149373796
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr) rs2149373719
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu) rs1765882595
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys) rs2149372645
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg) rs780038146
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr) rs747966606
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del) rs745810321
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu) rs1765844509
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg) rs1302398240
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu) rs1765839616
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg) rs200443479
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His) rs1765722908
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr) rs1400495680
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala) rs1765717648
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile) rs1231345150
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.7086+4A>G
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
NM_004370.6(COL12A1):c.7210+3dup
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser) rs1290886066
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly) rs1769229174
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala) rs1769227311
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met) rs1769226903
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
NM_004370.6(COL12A1):c.74-2A>T
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala) rs1769137471
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu) rs1470111741
NM_004370.6(COL12A1):c.7519+6T>C rs2149363457
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser) rs1468041100
NM_004370.6(COL12A1):c.7558+5G>A
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu) rs1769053374
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser) rs1168175119
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys) rs2149361441
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser) rs1769052516
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala) rs942074618
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His) rs1364305836
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His) rs1768945805
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys) rs1312651383
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val) rs375113182
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala) rs1768943469
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu) rs1428757896
NM_004370.6(COL12A1):c.7841-3C>T
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu) rs1194345062
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu) rs2149482865
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
NM_004370.6(COL12A1):c.7950+5A>T rs771300269
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe) rs1347122880
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln) rs1768709126
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His) rs1324430356
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met) rs536679905
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met) rs1167733175
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His) rs2149353031
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
NM_004370.6(COL12A1):c.8100+4A>T rs2149352934
NM_004370.6(COL12A1):c.8100+5G>T
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr) rs1768551206
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
NM_004370.6(COL12A1):c.8178+6T>C
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=) rs1768547356
NM_004370.6(COL12A1):c.8179-17T>G
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg) rs1768494060
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.823+4G>A
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8266-8T>A
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr) rs1768418483
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr) rs1473515166
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val) rs1254845133
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp) rs1768363255
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu) rs1768363108
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys) rs1768362148
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser) rs1582050849
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp) rs1768358751
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp) rs1768356411
NM_004370.6(COL12A1):c.8415+2dup
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys) rs2149343509
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser) rs2149343047
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
NM_004370.6(COL12A1):c.8524-3T>G
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg) rs574147225
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=) rs1768087709
NM_004370.6(COL12A1):c.8578-6T>G
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala) rs2149333527
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=) rs1767942315
NM_004370.6(COL12A1):c.8649+6C>T rs1037107431
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=) rs900917198
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly) rs1767765917
NM_004370.6(COL12A1):c.8685+3A>G
NM_004370.6(COL12A1):c.8685+4T>C
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr) rs1319038184
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8752+5A>C
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile) rs1767695881
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly) rs1769748525
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp) rs760317754
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu) rs369768310
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln) rs1767686939
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr) rs1310755474
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr) rs1404705545
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe) rs1767642437
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys) rs1767642101
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val) rs763589676
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+4G>C rs2149325295
NM_004370.6(COL12A1):c.9010+5G>A
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile) rs1767574420
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile) rs1767573014
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro) rs1307746550
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser) rs560180665
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu) rs1767570608
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu) rs1767566470
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly) rs2149322777
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val) rs1769746949
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
NM_004370.6(COL12A1):c.9181+4C>G
NM_004370.6(COL12A1):c.9181+5G>A
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val) rs1442527803
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe) rs370040853
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn) rs1769743212
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.997+2T>C

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