ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1228
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
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.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.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.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.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.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.6103G>A (p.Gly2035Ser) rs750263276 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 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.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.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.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.(?_75827078)_(75912508_?)dup
NC_000006.11:g.(?_75827078)_(76640888_?)dup
NC_000006.11:g.(?_75833644)_(75847315_?)del
NC_000006.11:g.(?_75858054)_(75912508_?)dup
NC_000006.11:g.(?_75875203)_(75875515_?)dup
NC_000006.11:g.(?_75901397)_(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

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