Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47981775_47981778delinsCCTT | CA2034448448 | COL2A1 | c.2200_2202+1delinsAAGG c.2407_2409+1delinsAAGG n.585_587+1delinsAAGG n.1493_1495+1delinsAAGG c.2551_2553+1delinsAAGG c.2548_2550+1delinsAAGG c.1495_1497+1delinsAAGG n.208+349_208+352delinsCCTT c.2341_2343+1delinsAAGG c.1861_1863+1delinsAAGG | |
12 | g.47981778_47981780del | CA16042883 | COL2A1 | c.2200_2202del (p.Lys734del) c.2407_2409del (p.Lys803del) n.585_587del n.1493_1495del c.2551_2553del (p.Lys851del) c.2548_2550del (p.Lys850del) c.1495_1497del (p.Lys499del) n.208+352_208+354del c.2341_2343del (p.Lys781del) c.1861_1863del (p.Lys621del) | ClinVar dbSNP |
12 | g.47981778T>A | CA384545390 | COL2A1 | c.2200A>T (p.Lys734Ter) c.2407A>T (p.Lys803Ter) n.585A>T n.1493A>T c.2551A>T (p.Lys851Ter) c.2548A>T (p.Lys850Ter) c.1495A>T (p.Lys499Ter) n.208+352T>A c.2341A>T (p.Lys781Ter) c.1861A>T (p.Lys621Ter) | |
12 | g.47981778T>C | CA6535116 | COL2A1 | c.2200A>G (p.Lys734Glu) c.2407A>G (p.Lys803Glu) n.585A>G n.1493A>G c.2551A>G (p.Lys851Glu) c.2548A>G (p.Lys850Glu) c.1495A>G (p.Lys499Glu) n.208+352T>C c.2341A>G (p.Lys781Glu) c.1861A>G (p.Lys621Glu) | dbSNP ExAC gnomAD v4 |
12 | g.47981778T>G | CA384545389 | COL2A1 | c.2200A>C (p.Lys734Gln) c.2407A>C (p.Lys803Gln) n.585A>C n.1493A>C c.2551A>C (p.Lys851Gln) c.2548A>C (p.Lys850Gln) c.1495A>C (p.Lys499Gln) n.208+352T>G c.2341A>C (p.Lys781Gln) c.1861A>C (p.Lys621Gln) | |
12 | g.47981778T= | CA2034448462 | COL2A1 | c.2200A= (p.Lys734=) c.2407A= (p.Lys803=) n.585A= n.1493A= c.2551A= (p.Lys851=) c.2548A= (p.Lys850=) c.1495A= (p.Lys499=) n.208+352T= c.2341A= (p.Lys781=) c.1861A= (p.Lys621=) | |
12 | g.47981779del | CA2580085571 | COL2A1 | c.2199del (p.Lys734ArgfsTer?) c.2406del (p.Lys803ArgfsTer?) n.584del n.1492del c.2550del (p.Lys851ArgfsTer?) c.2547del (p.Lys850ArgfsTer?) c.1494del (p.Lys499ArgfsTer?) n.208+353del c.2340del (p.Lys781ArgfsTer?) c.1860del (p.Lys621ArgfsTer?) | ClinVar |
12 | g.47981779C>A | CA384545393 | COL2A1 | c.2199G>T (p.Glu733Asp) c.2406G>T (p.Glu802Asp) n.584G>T n.1492G>T c.2550G>T (p.Glu850Asp) c.2547G>T (p.Glu849Asp) c.1494G>T (p.Glu498Asp) n.208+353C>A c.2340G>T (p.Glu780Asp) c.1860G>T (p.Glu620Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.47981779C>G | CA384545395 | COL2A1 | c.2199G>C (p.Glu733Asp) c.2406G>C (p.Glu802Asp) n.584G>C n.1492G>C c.2550G>C (p.Glu850Asp) c.2547G>C (p.Glu849Asp) c.1494G>C (p.Glu498Asp) n.208+353C>G c.2340G>C (p.Glu780Asp) c.1860G>C (p.Glu620Asp) | |
12 | g.47981779C>T | CA479459204 | COL2A1 | c.2199G>A (p.Glu733=) c.2406G>A (p.Glu802=) n.584G>A n.1492G>A c.2550G>A (p.Glu850=) c.2547G>A (p.Glu849=) c.1494G>A (p.Glu498=) n.208+353C>T c.2340G>A (p.Glu780=) c.1860G>A (p.Glu620=) | |
12 | g.47981780_47981793del | CA2573148586 | COL2A1 | c.2186_2199del (p.Gly729GlufsTer21) c.2393_2406del (p.Gly798GlufsTer21) n.571_584del n.1479_1492del c.2537_2550del (p.Gly846GlufsTer21) c.2534_2547del (p.Gly845GlufsTer21) c.1481_1494del (p.Gly494GlufsTer21) n.208+354_208+367del c.2327_2340del (p.Gly776GlufsTer21) c.1847_1860del (p.Gly616GlufsTer21) | ClinVar dbSNP |
12 | g.47981780T>A | CA6535117 | COL2A1 | c.2198A>T (p.Glu733Val) c.2405A>T (p.Glu802Val) n.583A>T n.1491A>T c.2549A>T (p.Glu850Val) c.2546A>T (p.Glu849Val) c.1493A>T (p.Glu498Val) n.208+354T>A c.2339A>T (p.Glu780Val) c.1859A>T (p.Glu620Val) | dbSNP ExAC gnomAD v4 |
12 | g.47981780T>C | CA384545400 | COL2A1 | c.2198A>G (p.Glu733Gly) c.2405A>G (p.Glu802Gly) n.583A>G n.1491A>G c.2549A>G (p.Glu850Gly) c.2546A>G (p.Glu849Gly) c.1493A>G (p.Glu498Gly) n.208+354T>C c.2339A>G (p.Glu780Gly) c.1859A>G (p.Glu620Gly) | gnomAD v4 |
12 | g.47981780T>G | CA384545398 | COL2A1 | c.2198A>C (p.Glu733Ala) c.2405A>C (p.Glu802Ala) n.583A>C n.1491A>C c.2549A>C (p.Glu850Ala) c.2546A>C (p.Glu849Ala) c.1493A>C (p.Glu498Ala) n.208+354T>G c.2339A>C (p.Glu780Ala) c.1859A>C (p.Glu620Ala) | |
12 | g.47981780T= | CA2034448463 | COL2A1 | c.2198A= (p.Glu733=) c.2405A= (p.Glu802=) n.583A= n.1491A= c.2549A= (p.Glu850=) c.2546A= (p.Glu849=) c.1493A= (p.Glu498=) n.208+354T= c.2339A= (p.Glu780=) c.1859A= (p.Glu620=) | |
12 | g.47981781C>A | CA384545403 | COL2A1 | c.2197G>T (p.Glu733Ter) c.2404G>T (p.Glu802Ter) n.582G>T n.1490G>T c.2548G>T (p.Glu850Ter) c.2545G>T (p.Glu849Ter) c.1492G>T (p.Glu498Ter) n.208+355C>A c.2338G>T (p.Glu780Ter) c.1858G>T (p.Glu620Ter) | gnomAD v4 |
12 | g.47981781C= | CA2034448472 | COL2A1 | c.2197G= (p.Glu733=) c.2404G= (p.Glu802=) n.582G= n.1490G= c.2548G= (p.Glu850=) c.2545G= (p.Glu849=) c.1492G= (p.Glu498=) n.208+355C= c.2338G= (p.Glu780=) c.1858G= (p.Glu620=) | |
12 | g.47981781C>G | CA384545404 | COL2A1 | c.2197G>C (p.Glu733Gln) c.2404G>C (p.Glu802Gln) n.582G>C n.1490G>C c.2548G>C (p.Glu850Gln) c.2545G>C (p.Glu849Gln) c.1492G>C (p.Glu498Gln) n.208+355C>G c.2338G>C (p.Glu780Gln) c.1858G>C (p.Glu620Gln) | |
12 | g.47981781C>T | CA6535118 | COL2A1 | c.2197G>A (p.Glu733Lys) c.2404G>A (p.Glu802Lys) n.582G>A n.1490G>A c.2548G>A (p.Glu850Lys) c.2545G>A (p.Glu849Lys) c.1492G>A (p.Glu498Lys) n.208+355C>T c.2338G>A (p.Glu780Lys) c.1858G>A (p.Glu620Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47981782G>A | CA6535119 | COL2A1 | c.2196C>T (p.Gly732=) c.2403C>T (p.Gly801=) n.581C>T n.1489C>T c.2547C>T (p.Gly849=) c.2544C>T (p.Gly848=) c.1491C>T (p.Gly497=) n.208+356G>A c.2337C>T (p.Gly779=) c.1857C>T (p.Gly619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47981782G>C | CA6535120 | COL2A1 | c.2196C>G (p.Gly732=) c.2403C>G (p.Gly801=) n.581C>G n.1489C>G c.2547C>G (p.Gly849=) c.2544C>G (p.Gly848=) c.1491C>G (p.Gly497=) n.208+356G>C c.2337C>G (p.Gly779=) c.1857C>G (p.Gly619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47981782G= | CA2034448482 | COL2A1 | c.2196C= (p.Gly732=) c.2403C= (p.Gly801=) n.581C= n.1489C= c.2547C= (p.Gly849=) c.2544C= (p.Gly848=) c.1491C= (p.Gly497=) n.208+356G= c.2337C= (p.Gly779=) c.1857C= (p.Gly619=) | |
12 | g.47981782G>T | CA479459214 | COL2A1 | c.2196C>A (p.Gly732=) c.2403C>A (p.Gly801=) n.581C>A n.1489C>A c.2547C>A (p.Gly849=) c.2544C>A (p.Gly848=) c.1491C>A (p.Gly497=) n.208+356G>T c.2337C>A (p.Gly779=) c.1857C>A (p.Gly619=) | gnomAD v4 |
12 | g.47981783C>A | CA384545414 | COL2A1 | c.2195G>T (p.Gly732Val) c.2402G>T (p.Gly801Val) n.580G>T n.1488G>T c.2546G>T (p.Gly849Val) c.2543G>T (p.Gly848Val) c.1490G>T (p.Gly497Val) n.208+357C>A c.2336G>T (p.Gly779Val) c.1856G>T (p.Gly619Val) | gnomAD v4 |
12 | g.47981783C>G | CA384545412 | COL2A1 | c.2195G>C (p.Gly732Ala) c.2402G>C (p.Gly801Ala) n.580G>C n.1488G>C c.2546G>C (p.Gly849Ala) c.2543G>C (p.Gly848Ala) c.1490G>C (p.Gly497Ala) n.208+357C>G c.2336G>C (p.Gly779Ala) c.1856G>C (p.Gly619Ala) | |
12 | g.47981783C>T | CA384545411 | COL2A1 | c.2195G>A (p.Gly732Asp) c.2402G>A (p.Gly801Asp) n.580G>A n.1488G>A c.2546G>A (p.Gly849Asp) c.2543G>A (p.Gly848Asp) c.1490G>A (p.Gly497Asp) n.208+357C>T c.2336G>A (p.Gly779Asp) c.1856G>A (p.Gly619Asp) | gnomAD v4 |
12 | g.47981784C>A | CA384545417 | COL2A1 | c.2194G>T (p.Gly732Cys) c.2401G>T (p.Gly801Cys) n.579G>T n.1487G>T c.2545G>T (p.Gly849Cys) c.2542G>T (p.Gly848Cys) c.1489G>T (p.Gly497Cys) n.208+358C>A c.2335G>T (p.Gly779Cys) c.1855G>T (p.Gly619Cys) | gnomAD v4 |
12 | g.47981784C>G | CA384545418 | COL2A1 | c.2194G>C (p.Gly732Arg) c.2401G>C (p.Gly801Arg) n.579G>C n.1487G>C c.2545G>C (p.Gly849Arg) c.2542G>C (p.Gly848Arg) c.1489G>C (p.Gly497Arg) n.208+358C>G c.2335G>C (p.Gly779Arg) c.1855G>C (p.Gly619Arg) | |
12 | g.47981784C>T | CA384545420 | COL2A1 | c.2194G>A (p.Gly732Ser) c.2401G>A (p.Gly801Ser) n.579G>A n.1487G>A c.2545G>A (p.Gly849Ser) c.2542G>A (p.Gly848Ser) c.1489G>A (p.Gly497Ser) n.208+358C>T c.2335G>A (p.Gly779Ser) c.1855G>A (p.Gly619Ser) | ClinVar gnomAD v4 |
12 | g.47981785A= | CA1630855611 | COL2A1 | c.2193T= (p.Asn731=) c.2400T= (p.Asn800=) n.578T= n.1486T= c.2544T= (p.Asn848=) c.2541T= (p.Asn847=) c.1488T= (p.Asn496=) n.208+359A= c.2334T= (p.Asn778=) c.1854T= (p.Asn618=) | |
12 | g.47981785A>C | CA384545422 | COL2A1 | c.2193T>G (p.Asn731Lys) c.2400T>G (p.Asn800Lys) n.578T>G n.1486T>G c.2544T>G (p.Asn848Lys) c.2541T>G (p.Asn847Lys) c.1488T>G (p.Asn496Lys) n.208+359A>C c.2334T>G (p.Asn778Lys) c.1854T>G (p.Asn618Lys) | gnomAD v4 |
12 | g.47981785A>G | CA147291 | COL2A1 | c.2193T>C (p.Asn731=) c.2400T>C (p.Asn800=) n.578T>C n.1486T>C c.2544T>C (p.Asn848=) c.2541T>C (p.Asn847=) c.1488T>C (p.Asn496=) n.208+359A>G c.2334T>C (p.Asn778=) c.1854T>C (p.Asn618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47981785A>T | CA384545424 | COL2A1 | c.2193T>A (p.Asn731Lys) c.2400T>A (p.Asn800Lys) n.578T>A n.1486T>A c.2544T>A (p.Asn848Lys) c.2541T>A (p.Asn847Lys) c.1488T>A (p.Asn496Lys) n.208+359A>T c.2334T>A (p.Asn778Lys) c.1854T>A (p.Asn618Lys) | |
12 | g.47981786T>A | CA384545430 | COL2A1 | c.2192A>T (p.Asn731Ile) c.2399A>T (p.Asn800Ile) n.577A>T n.1485A>T c.2543A>T (p.Asn848Ile) c.2540A>T (p.Asn847Ile) c.1487A>T (p.Asn496Ile) n.208+360T>A c.2333A>T (p.Asn778Ile) c.1853A>T (p.Asn618Ile) | |
12 | g.47981786T>C | CA384545426 | COL2A1 | c.2192A>G (p.Asn731Ser) c.2399A>G (p.Asn800Ser) n.577A>G n.1485A>G c.2543A>G (p.Asn848Ser) c.2540A>G (p.Asn847Ser) c.1487A>G (p.Asn496Ser) n.208+360T>C c.2333A>G (p.Asn778Ser) c.1853A>G (p.Asn618Ser) | |
12 | g.47981786T>G | CA384545428 | COL2A1 | c.2192A>C (p.Asn731Thr) c.2399A>C (p.Asn800Thr) n.577A>C n.1485A>C c.2543A>C (p.Asn848Thr) c.2540A>C (p.Asn847Thr) c.1487A>C (p.Asn496Thr) n.208+360T>G c.2333A>C (p.Asn778Thr) c.1853A>C (p.Asn618Thr) | |
12 | g.47981787T>A | CA384545434 | COL2A1 | c.2191A>T (p.Asn731Tyr) c.2398A>T (p.Asn800Tyr) n.576A>T n.1484A>T c.2542A>T (p.Asn848Tyr) c.2539A>T (p.Asn847Tyr) c.1486A>T (p.Asn496Tyr) n.208+361T>A c.2332A>T (p.Asn778Tyr) c.1852A>T (p.Asn618Tyr) | |
12 | g.47981787T>C | CA384545436 | COL2A1 | c.2191A>G (p.Asn731Asp) c.2398A>G (p.Asn800Asp) n.576A>G n.1484A>G c.2542A>G (p.Asn848Asp) c.2539A>G (p.Asn847Asp) c.1486A>G (p.Asn496Asp) n.208+361T>C c.2332A>G (p.Asn778Asp) c.1852A>G (p.Asn618Asp) | gnomAD v4 |
12 | g.47981787T>G | CA236523926 | COL2A1 | c.2191A>C (p.Asn731His) c.2398A>C (p.Asn800His) n.576A>C n.1484A>C c.2542A>C (p.Asn848His) c.2539A>C (p.Asn847His) c.1486A>C (p.Asn496His) n.208+361T>G c.2332A>C (p.Asn778His) c.1852A>C (p.Asn618His) | dbSNP gnomAD v4 |
12 | g.47981787T= | CA2034448500 | COL2A1 | c.2191A= (p.Asn731=) c.2398A= (p.Asn800=) n.576A= n.1484A= c.2542A= (p.Asn848=) c.2539A= (p.Asn847=) c.1486A= (p.Asn496=) n.208+361T= c.2332A= (p.Asn778=) c.1852A= (p.Asn618=) | |
12 | g.47981788A= | CA2034448508 | COL2A1 | c.2190T= (p.Ala730=) c.2397T= (p.Ala799=) n.575T= n.1483T= c.2541T= (p.Ala847=) c.2538T= (p.Ala846=) c.1485T= (p.Ala495=) n.208+362A= c.2331T= (p.Ala777=) c.1851T= (p.Ala617=) | |
12 | g.47981788A>C | CA479459232 | COL2A1 | c.2190T>G (p.Ala730=) c.2397T>G (p.Ala799=) n.575T>G n.1483T>G c.2541T>G (p.Ala847=) c.2538T>G (p.Ala846=) c.1485T>G (p.Ala495=) n.208+362A>C c.2331T>G (p.Ala777=) c.1851T>G (p.Ala617=) | dbSNP |
12 | g.47981788A>G | CA479459233 | COL2A1 | c.2190T>C (p.Ala730=) c.2397T>C (p.Ala799=) n.575T>C n.1483T>C c.2541T>C (p.Ala847=) c.2538T>C (p.Ala846=) c.1485T>C (p.Ala495=) n.208+362A>G c.2331T>C (p.Ala777=) c.1851T>C (p.Ala617=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47981788A>T | CA479459235 | COL2A1 | c.2190T>A (p.Ala730=) c.2397T>A (p.Ala799=) n.575T>A n.1483T>A c.2541T>A (p.Ala847=) c.2538T>A (p.Ala846=) c.1485T>A (p.Ala495=) n.208+362A>T c.2331T>A (p.Ala777=) c.1851T>A (p.Ala617=) | |
12 | g.47981789G>A | CA384545439 | COL2A1 | c.2189C>T (p.Ala730Val) c.2396C>T (p.Ala799Val) n.574C>T n.1482C>T c.2540C>T (p.Ala847Val) c.2537C>T (p.Ala846Val) c.1484C>T (p.Ala495Val) n.208+363G>A c.2330C>T (p.Ala777Val) c.1850C>T (p.Ala617Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47981789G>C | CA384545441 | COL2A1 | c.2189C>G (p.Ala730Gly) c.2396C>G (p.Ala799Gly) n.574C>G n.1482C>G c.2540C>G (p.Ala847Gly) c.2537C>G (p.Ala846Gly) c.1484C>G (p.Ala495Gly) n.208+363G>C c.2330C>G (p.Ala777Gly) c.1850C>G (p.Ala617Gly) | |
12 | g.47981789G= | CA2034448517 | COL2A1 | c.2189C= (p.Ala730=) c.2396C= (p.Ala799=) n.574C= n.1482C= c.2540C= (p.Ala847=) c.2537C= (p.Ala846=) c.1484C= (p.Ala495=) n.208+363G= c.2330C= (p.Ala777=) c.1850C= (p.Ala617=) | |
12 | g.47981789G>T | CA384545442 | COL2A1 | c.2189C>A (p.Ala730Asp) c.2396C>A (p.Ala799Asp) n.574C>A n.1482C>A c.2540C>A (p.Ala847Asp) c.2537C>A (p.Ala846Asp) c.1484C>A (p.Ala495Asp) n.208+363G>T c.2330C>A (p.Ala777Asp) c.1850C>A (p.Ala617Asp) | |
12 | g.47981790C>A | CA384545443 | COL2A1 | c.2188G>T (p.Ala730Ser) c.2395G>T (p.Ala799Ser) n.573G>T n.1481G>T c.2539G>T (p.Ala847Ser) c.2536G>T (p.Ala846Ser) c.1483G>T (p.Ala495Ser) n.208+364C>A c.2329G>T (p.Ala777Ser) c.1849G>T (p.Ala617Ser) | gnomAD v4 |
12 | g.47981790C= | CA2034448520 | COL2A1 | c.2188G= (p.Ala730=) c.2395G= (p.Ala799=) n.573G= n.1481G= c.2539G= (p.Ala847=) c.2536G= (p.Ala846=) c.1483G= (p.Ala495=) n.208+364C= c.2329G= (p.Ala777=) c.1849G= (p.Ala617=) |