Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47981775_47981778delinsCCTTCA2034448448COL2A1c.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
12g.47981776C>ACA6535115COL2A1c.2202G>T (p.Lys734Asn)
c.2409G>T (p.Lys803Asn)
n.587G>T
n.1495G>T
c.2553G>T (p.Lys851Asn)
c.2550G>T (p.Lys850Asn)
c.1497G>T (p.Lys499Asn)
n.208+350C>A
c.2343G>T (p.Lys781Asn)
c.1863G>T (p.Lys621Asn)
dbSNP ExAC gnomAD v4
12g.47981776C=CA2034448457COL2A1c.2202G= (p.Lys734=)
c.2409G= (p.Lys803=)
n.587G=
n.1495G=
c.2553G= (p.Lys851=)
c.2550G= (p.Lys850=)
c.1497G= (p.Lys499=)
n.208+350C=
c.2343G= (p.Lys781=)
c.1863G= (p.Lys621=)
12g.47981776C>GCA384545383COL2A1c.2202G>C (p.Lys734Asn)
c.2409G>C (p.Lys803Asn)
n.587G>C
n.1495G>C
c.2553G>C (p.Lys851Asn)
c.2550G>C (p.Lys850Asn)
c.1497G>C (p.Lys499Asn)
n.208+350C>G
c.2343G>C (p.Lys781Asn)
c.1863G>C (p.Lys621Asn)
12g.47981776C>TCA479459192COL2A1c.2202G>A (p.Lys734=)
c.2409G>A (p.Lys803=)
n.587G>A
n.1495G>A
c.2553G>A (p.Lys851=)
c.2550G>A (p.Lys850=)
c.1497G>A (p.Lys499=)
n.208+350C>T
c.2343G>A (p.Lys781=)
c.1863G>A (p.Lys621=)
gnomAD v4
12g.47981778_47981780delCA16042883COL2A1c.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
12g.47981777T>ACA384545386COL2A1c.2201A>T (p.Lys734Met)
c.2408A>T (p.Lys803Met)
n.586A>T
n.1494A>T
c.2552A>T (p.Lys851Met)
c.2549A>T (p.Lys850Met)
c.1496A>T (p.Lys499Met)
n.208+351T>A
c.2342A>T (p.Lys781Met)
c.1862A>T (p.Lys621Met)
12g.47981777T>CCA384545387COL2A1c.2201A>G (p.Lys734Arg)
c.2408A>G (p.Lys803Arg)
n.586A>G
n.1494A>G
c.2552A>G (p.Lys851Arg)
c.2549A>G (p.Lys850Arg)
c.1496A>G (p.Lys499Arg)
n.208+351T>C
c.2342A>G (p.Lys781Arg)
c.1862A>G (p.Lys621Arg)
gnomAD v4
12g.47981777T>GCA384545388COL2A1c.2201A>C (p.Lys734Thr)
c.2408A>C (p.Lys803Thr)
n.586A>C
n.1494A>C
c.2552A>C (p.Lys851Thr)
c.2549A>C (p.Lys850Thr)
c.1496A>C (p.Lys499Thr)
n.208+351T>G
c.2342A>C (p.Lys781Thr)
c.1862A>C (p.Lys621Thr)
12g.47981778T>ACA384545390COL2A1c.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)
12g.47981778T>CCA6535116COL2A1c.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
12g.47981778T>GCA384545389COL2A1c.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)
12g.47981778T=CA2034448462COL2A1c.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=)
12g.47981779delCA2580085571COL2A1c.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
12g.47981779C>ACA384545393COL2A1c.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
12g.47981779C>GCA384545395COL2A1c.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)
12g.47981779C>TCA479459204COL2A1c.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=)
12g.47981780_47981793delCA2573148586COL2A1c.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
12g.47981780T>ACA6535117COL2A1c.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
12g.47981780T>CCA384545400COL2A1c.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
12g.47981780T>GCA384545398COL2A1c.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)
12g.47981780T=CA2034448463COL2A1c.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=)
12g.47981781C>ACA384545403COL2A1c.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
12g.47981781C=CA2034448472COL2A1c.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=)
12g.47981781C>GCA384545404COL2A1c.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)
12g.47981781C>TCA6535118COL2A1c.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
12g.47981782G>ACA6535119COL2A1c.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
12g.47981782G>CCA6535120COL2A1c.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
12g.47981782G=CA2034448482COL2A1c.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=)
12g.47981782G>TCA479459214COL2A1c.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
12g.47981783C>ACA384545414COL2A1c.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
12g.47981783C>GCA384545412COL2A1c.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)
12g.47981783C>TCA384545411COL2A1c.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
12g.47981784C>ACA384545417COL2A1c.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
12g.47981784C>GCA384545418COL2A1c.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)
12g.47981784C>TCA384545420COL2A1c.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)
gnomAD v4
12g.47981785A=CA1630855611COL2A1c.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=)
12g.47981785A>CCA384545422COL2A1c.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
12g.47981785A>GCA147291COL2A1c.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
12g.47981785A>TCA384545424COL2A1c.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)
12g.47981786T>ACA384545430COL2A1c.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)
12g.47981786T>CCA384545426COL2A1c.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)
12g.47981786T>GCA384545428COL2A1c.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)
12g.47981787T>ACA384545434COL2A1c.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)
12g.47981787T>CCA384545436COL2A1c.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
12g.47981787T>GCA236523926COL2A1c.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
12g.47981787T=CA2034448500COL2A1c.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=)
12g.47981788A=CA2034448508COL2A1c.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=)
12g.47981788A>CCA479459232COL2A1c.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
12g.47981788A>GCA479459233COL2A1c.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

Number of alleles fetched