| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978130_47978211dup | CA947352022 | COL2A1 | c.2797-86_2797-5dup (p.=) c.3004-86_3004-5dup (p.=) n.2797-86_2797-5dup (p.=) n.2090-86_2090-5dup c.3148-86_3148-5dup (p.=) c.3145-86_3145-5dup (p.=) c.2092-86_2092-5dup (p.=) c.2938-86_2938-5dup (p.=) c.2458-86_2458-5dup (p.=) | |
| 12 | g.47978187C= | CA2034476752 | COL2A1 | c.2797-70G= (p.=) c.3004-70G= (p.=) n.2797-70G= (p.=) n.2090-70G= c.3148-70G= (p.=) c.3145-70G= (p.=) c.2092-70G= (p.=) c.2938-70G= (p.=) c.2458-70G= (p.=) | |
| 12 | g.47978187C>T | CA689437336 | COL2A1 | c.2797-70G>A (p.=) c.3004-70G>A (p.=) n.2797-70G>A (p.=) n.2090-70G>A c.3148-70G>A (p.=) c.3145-70G>A (p.=) c.2092-70G>A (p.=) c.2938-70G>A (p.=) c.2458-70G>A (p.=) | |
| 12 | g.47978188A= | CA2034476753 | COL2A1 | c.2797-71T= (p.=) c.3004-71T= (p.=) n.2797-71T= (p.=) n.2090-71T= c.3148-71T= (p.=) c.3145-71T= (p.=) c.2092-71T= (p.=) c.2938-71T= (p.=) c.2458-71T= (p.=) | |
| 12 | g.47978188A>G | CA236521638 | COL2A1 | c.2797-71T>C (p.=) c.3004-71T>C (p.=) n.2797-71T>C (p.=) n.2090-71T>C c.3148-71T>C (p.=) c.3145-71T>C (p.=) c.2092-71T>C (p.=) c.2938-71T>C (p.=) c.2458-71T>C (p.=) | dbSNP gnomAD |
| 12 | g.47978190G= | CA2034476754 | COL2A1 | c.2797-73C= (p.=) c.3004-73C= (p.=) n.2797-73C= (p.=) n.2090-73C= c.3148-73C= (p.=) c.3145-73C= (p.=) c.2092-73C= (p.=) c.2938-73C= (p.=) c.2458-73C= (p.=) | |
| 12 | g.47978190G>T | CA2034476755 | COL2A1 | c.2797-73C>A (p.=) c.3004-73C>A (p.=) n.2797-73C>A (p.=) n.2090-73C>A c.3148-73C>A (p.=) c.3145-73C>A (p.=) c.2092-73C>A (p.=) c.2938-73C>A (p.=) c.2458-73C>A (p.=) | |
| 12 | g.47978191G= | CA2034476756 | COL2A1 | c.2797-74C= (p.=) c.3004-74C= (p.=) n.2797-74C= (p.=) n.2090-74C= c.3148-74C= (p.=) c.3145-74C= (p.=) c.2092-74C= (p.=) c.2938-74C= (p.=) c.2458-74C= (p.=) | |
| 12 | g.47978191G>T | CA689437340 | COL2A1 | c.2797-74C>A (p.=) c.3004-74C>A (p.=) n.2797-74C>A (p.=) n.2090-74C>A c.3148-74C>A (p.=) c.3145-74C>A (p.=) c.2092-74C>A (p.=) c.2938-74C>A (p.=) c.2458-74C>A (p.=) | |
| 12 | g.47978192A= | CA2034476757 | COL2A1 | c.2797-75T= (p.=) c.3004-75T= (p.=) n.2797-75T= (p.=) n.2090-75T= c.3148-75T= (p.=) c.3145-75T= (p.=) c.2092-75T= (p.=) c.2938-75T= (p.=) c.2458-75T= (p.=) | |
| 12 | g.47978192A>T | CA2034476758 | COL2A1 | c.2797-75T>A (p.=) c.3004-75T>A (p.=) n.2797-75T>A (p.=) n.2090-75T>A c.3148-75T>A (p.=) c.3145-75T>A (p.=) c.2092-75T>A (p.=) c.2938-75T>A (p.=) c.2458-75T>A (p.=) | |
| 12 | g.47978194A= | CA2034476759 | COL2A1 | c.2797-77T= (p.=) c.3004-77T= (p.=) n.2797-77T= (p.=) n.2090-77T= c.3148-77T= (p.=) c.3145-77T= (p.=) c.2092-77T= (p.=) c.2938-77T= (p.=) c.2458-77T= (p.=) | |
| 12 | g.47978194A>T | CA236521639 | COL2A1 | c.2797-77T>A (p.=) c.3004-77T>A (p.=) n.2797-77T>A (p.=) n.2090-77T>A c.3148-77T>A (p.=) c.3145-77T>A (p.=) c.2092-77T>A (p.=) c.2938-77T>A (p.=) c.2458-77T>A (p.=) | dbSNP |
| 12 | g.47978195G>C | CA236521640 | COL2A1 | c.2797-78C>G (p.=) c.3004-78C>G (p.=) n.2797-78C>G (p.=) n.2090-78C>G c.3148-78C>G (p.=) c.3145-78C>G (p.=) c.2092-78C>G (p.=) c.2938-78C>G (p.=) c.2458-78C>G (p.=) | dbSNP |
| 12 | g.47978195G= | CA2034476760 | COL2A1 | c.2797-78C= (p.=) c.3004-78C= (p.=) n.2797-78C= (p.=) n.2090-78C= c.3148-78C= (p.=) c.3145-78C= (p.=) c.2092-78C= (p.=) c.2938-78C= (p.=) c.2458-78C= (p.=) | |
| 12 | g.47978197G= | CA2034476761 | COL2A1 | c.2797-80C= (p.=) c.3004-80C= (p.=) n.2797-80C= (p.=) n.2090-80C= c.3148-80C= (p.=) c.3145-80C= (p.=) c.2092-80C= (p.=) c.2938-80C= (p.=) c.2458-80C= (p.=) | |
| 12 | g.47978197G>T | CA689437346 | COL2A1 | c.2797-80C>A (p.=) c.3004-80C>A (p.=) n.2797-80C>A (p.=) n.2090-80C>A c.3148-80C>A (p.=) c.3145-80C>A (p.=) c.2092-80C>A (p.=) c.2938-80C>A (p.=) c.2458-80C>A (p.=) | |
| 12 | g.47978198C>A | CA2034476763 | COL2A1 | c.2797-81G>T (p.=) c.3004-81G>T (p.=) n.2797-81G>T (p.=) n.2090-81G>T c.3148-81G>T (p.=) c.3145-81G>T (p.=) c.2092-81G>T (p.=) c.2938-81G>T (p.=) c.2458-81G>T (p.=) | |
| 12 | g.47978198C= | CA2034476762 | COL2A1 | c.2797-81G= (p.=) c.3004-81G= (p.=) n.2797-81G= (p.=) n.2090-81G= c.3148-81G= (p.=) c.3145-81G= (p.=) c.2092-81G= (p.=) c.2938-81G= (p.=) c.2458-81G= (p.=) | |
| 12 | g.47978200G>A | CA947352042 | COL2A1 | c.2797-83C>T (p.=) c.3004-83C>T (p.=) n.2797-83C>T (p.=) n.2090-83C>T c.3148-83C>T (p.=) c.3145-83C>T (p.=) c.2092-83C>T (p.=) c.2938-83C>T (p.=) c.2458-83C>T (p.=) | |
| 12 | g.47978200G= | CA2034476764 | COL2A1 | c.2797-83C= (p.=) c.3004-83C= (p.=) n.2797-83C= (p.=) n.2090-83C= c.3148-83C= (p.=) c.3145-83C= (p.=) c.2092-83C= (p.=) c.2938-83C= (p.=) c.2458-83C= (p.=) | |
| 12 | g.47978203A= | CA2034476765 | COL2A1 | c.2797-86T= (p.=) c.3004-86T= (p.=) n.2797-86T= (p.=) n.2090-86T= c.3148-86T= (p.=) c.3145-86T= (p.=) c.2092-86T= (p.=) c.2938-86T= (p.=) c.2458-86T= (p.=) | |
| 12 | g.47978203A>G | CA2034476766 | COL2A1 | c.2797-86T>C (p.=) c.3004-86T>C (p.=) n.2797-86T>C (p.=) n.2090-86T>C c.3148-86T>C (p.=) c.3145-86T>C (p.=) c.2092-86T>C (p.=) c.2938-86T>C (p.=) c.2458-86T>C (p.=) | |
| 12 | g.47978207G>A | CA654728250 | COL2A1 | c.2796+84C>T (p.=) c.3003+84C>T (p.=) n.2796+84C>T (p.=) n.2089+84C>T c.3147+84C>T (p.=) c.3144+84C>T (p.=) c.2091+84C>T (p.=) c.2937+84C>T (p.=) c.2457+84C>T (p.=) | COSMIC |
| 12 | g.47978207G= | CA2034476767 | COL2A1 | c.2796+84C= (p.=) c.3003+84C= (p.=) n.2796+84C= (p.=) n.2089+84C= c.3147+84C= (p.=) c.3144+84C= (p.=) c.2091+84C= (p.=) c.2937+84C= (p.=) c.2457+84C= (p.=) | |
| 12 | g.47978211G>A | CA236521641 | COL2A1 | c.2796+80C>T (p.=) c.3003+80C>T (p.=) n.2796+80C>T (p.=) n.2089+80C>T c.3147+80C>T (p.=) c.3144+80C>T (p.=) c.2091+80C>T (p.=) c.2937+80C>T (p.=) c.2457+80C>T (p.=) | dbSNP |
| 12 | g.47978211G= | CA2034476768 | COL2A1 | c.2796+80C= (p.=) c.3003+80C= (p.=) n.2796+80C= (p.=) n.2089+80C= c.3147+80C= (p.=) c.3144+80C= (p.=) c.2091+80C= (p.=) c.2937+80C= (p.=) c.2457+80C= (p.=) | |
| 12 | g.47978213C>A | CA689437347 | COL2A1 | c.2796+78G>T (p.=) c.3003+78G>T (p.=) n.2796+78G>T (p.=) n.2089+78G>T c.3147+78G>T (p.=) c.3144+78G>T (p.=) c.2091+78G>T (p.=) c.2937+78G>T (p.=) c.2457+78G>T (p.=) | |
| 12 | g.47978213C= | CA2034476769 | COL2A1 | c.2796+78G= (p.=) c.3003+78G= (p.=) n.2796+78G= (p.=) n.2089+78G= c.3147+78G= (p.=) c.3144+78G= (p.=) c.2091+78G= (p.=) c.2937+78G= (p.=) c.2457+78G= (p.=) | |
| 12 | g.47978216G>A | CA947352047 | COL2A1 | c.2796+75C>T (p.=) c.3003+75C>T (p.=) n.2796+75C>T (p.=) n.2089+75C>T c.3147+75C>T (p.=) c.3144+75C>T (p.=) c.2091+75C>T (p.=) c.2937+75C>T (p.=) c.2457+75C>T (p.=) | |
| 12 | g.47978216G= | CA2034476770 | COL2A1 | c.2796+75C= (p.=) c.3003+75C= (p.=) n.2796+75C= (p.=) n.2089+75C= c.3147+75C= (p.=) c.3144+75C= (p.=) c.2091+75C= (p.=) c.2937+75C= (p.=) c.2457+75C= (p.=) | |
| 12 | g.47978221T>G | CA2034476772 | COL2A1 | c.2796+70A>C (p.=) c.3003+70A>C (p.=) n.2796+70A>C (p.=) n.2089+70A>C c.3147+70A>C (p.=) c.3144+70A>C (p.=) c.2091+70A>C (p.=) c.2937+70A>C (p.=) c.2457+70A>C (p.=) | |
| 12 | g.47978221T= | CA2034476771 | COL2A1 | c.2796+70A= (p.=) c.3003+70A= (p.=) n.2796+70A= (p.=) n.2089+70A= c.3147+70A= (p.=) c.3144+70A= (p.=) c.2091+70A= (p.=) c.2937+70A= (p.=) c.2457+70A= (p.=) | |
| 12 | g.47978222G>C | CA236521642 | COL2A1 | c.2796+69C>G (p.=) c.3003+69C>G (p.=) n.2796+69C>G (p.=) n.2089+69C>G c.3147+69C>G (p.=) c.3144+69C>G (p.=) c.2091+69C>G (p.=) c.2937+69C>G (p.=) c.2457+69C>G (p.=) | dbSNP |
| 12 | g.47978222G= | CA2034476773 | COL2A1 | c.2796+69C= (p.=) c.3003+69C= (p.=) n.2796+69C= (p.=) n.2089+69C= c.3147+69C= (p.=) c.3144+69C= (p.=) c.2091+69C= (p.=) c.2937+69C= (p.=) c.2457+69C= (p.=) | |
| 12 | g.47978231G>A | CA236521645 | COL2A1 | c.2796+60C>T (p.=) c.3003+60C>T (p.=) n.2796+60C>T (p.=) n.2089+60C>T c.3147+60C>T (p.=) c.3144+60C>T (p.=) c.2091+60C>T (p.=) c.2937+60C>T (p.=) c.2457+60C>T (p.=) | dbSNP |
| 12 | g.47978231G= | CA2034476774 | COL2A1 | c.2796+60C= (p.=) c.3003+60C= (p.=) n.2796+60C= (p.=) n.2089+60C= c.3147+60C= (p.=) c.3144+60C= (p.=) c.2091+60C= (p.=) c.2937+60C= (p.=) c.2457+60C= (p.=) | |
| 12 | g.47978232G= | CA2034476775 | COL2A1 | c.2796+59C= (p.=) c.3003+59C= (p.=) n.2796+59C= (p.=) n.2089+59C= c.3147+59C= (p.=) c.3144+59C= (p.=) c.2091+59C= (p.=) c.2937+59C= (p.=) c.2457+59C= (p.=) | |
| 12 | g.47978232G>T | CA947352049 | COL2A1 | c.2796+59C>A (p.=) c.3003+59C>A (p.=) n.2796+59C>A (p.=) n.2089+59C>A c.3147+59C>A (p.=) c.3144+59C>A (p.=) c.2091+59C>A (p.=) c.2937+59C>A (p.=) c.2457+59C>A (p.=) | |
| 12 | g.47978238G>C | CA236521653 | COL2A1 | c.2796+53C>G (p.=) c.3003+53C>G (p.=) n.2796+53C>G (p.=) n.2089+53C>G c.3147+53C>G (p.=) c.3144+53C>G (p.=) c.2091+53C>G (p.=) c.2937+53C>G (p.=) c.2457+53C>G (p.=) | dbSNP |
| 12 | g.47978238G= | CA2034476776 | COL2A1 | c.2796+53C= (p.=) c.3003+53C= (p.=) n.2796+53C= (p.=) n.2089+53C= c.3147+53C= (p.=) c.3144+53C= (p.=) c.2091+53C= (p.=) c.2937+53C= (p.=) c.2457+53C= (p.=) | |
| 12 | g.47978239C= | CA2034476777 | COL2A1 | c.2796+52G= (p.=) c.3003+52G= (p.=) n.2796+52G= (p.=) n.2089+52G= c.3147+52G= (p.=) c.3144+52G= (p.=) c.2091+52G= (p.=) c.2937+52G= (p.=) c.2457+52G= (p.=) | |
| 12 | g.47978239C>T | CA947352053 | COL2A1 | c.2796+52G>A (p.=) c.3003+52G>A (p.=) n.2796+52G>A (p.=) n.2089+52G>A c.3147+52G>A (p.=) c.3144+52G>A (p.=) c.2091+52G>A (p.=) c.2937+52G>A (p.=) c.2457+52G>A (p.=) | |
| 12 | g.47978243G>A | CA689437351 | COL2A1 | c.2796+48C>T (p.=) c.3003+48C>T (p.=) n.2796+48C>T (p.=) n.2089+48C>T c.3147+48C>T (p.=) c.3144+48C>T (p.=) c.2091+48C>T (p.=) c.2937+48C>T (p.=) c.2457+48C>T (p.=) | |
| 12 | g.47978243G= | CA2034476778 | COL2A1 | c.2796+48C= (p.=) c.3003+48C= (p.=) n.2796+48C= (p.=) n.2089+48C= c.3147+48C= (p.=) c.3144+48C= (p.=) c.2091+48C= (p.=) c.2937+48C= (p.=) c.2457+48C= (p.=) | |
| 12 | g.47978244G>A | CA6534919 | COL2A1 | c.2796+47C>T (p.=) c.3003+47C>T (p.=) n.2796+47C>T (p.=) n.2089+47C>T c.3147+47C>T (p.=) c.3144+47C>T (p.=) c.2091+47C>T (p.=) c.2937+47C>T (p.=) c.2457+47C>T (p.=) | dbSNP ExAC gnomAD |
| 12 | g.47978244G= | CA2034476779 | COL2A1 | c.2796+47C= (p.=) c.3003+47C= (p.=) n.2796+47C= (p.=) n.2089+47C= c.3147+47C= (p.=) c.3144+47C= (p.=) c.2091+47C= (p.=) c.2937+47C= (p.=) c.2457+47C= (p.=) | |
| 12 | g.47978245C= | CA2034476780 | COL2A1 | c.2796+46G= (p.=) c.3003+46G= (p.=) n.2796+46G= (p.=) n.2089+46G= c.3147+46G= (p.=) c.3144+46G= (p.=) c.2091+46G= (p.=) c.2937+46G= (p.=) c.2457+46G= (p.=) | |
| 12 | g.47978245C>G | CA605231469 | COL2A1 | c.2796+46G>C (p.=) c.3003+46G>C (p.=) n.2796+46G>C (p.=) n.2089+46G>C c.3147+46G>C (p.=) c.3144+46G>C (p.=) c.2091+46G>C (p.=) c.2937+46G>C (p.=) c.2457+46G>C (p.=) | gnomAD |
| 12 | g.47978246A= | CA2034476781 | COL2A1 | c.2796+45T= (p.=) c.3003+45T= (p.=) n.2796+45T= (p.=) n.2089+45T= c.3147+45T= (p.=) c.3144+45T= (p.=) c.2091+45T= (p.=) c.2937+45T= (p.=) c.2457+45T= (p.=) |