Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47978221_47978275del | CA2795861543 | COL2A1 | c.2796+21_2796+75del (n.2796+21_2796+75del) c.3003+21_3003+75del (n.3003+21_3003+75del) n.2089+21_2089+75del c.3147+21_3147+75del (n.3147+21_3147+75del) c.3144+21_3144+75del (n.3144+21_3144+75del) c.2091+21_2091+75del (n.2091+21_2091+75del) c.2937+21_2937+75del (n.2937+21_2937+75del) c.2457+21_2457+75del (n.2457+21_2457+75del) | |
12 | g.47978253del | CA605231472 | COL2A1 | c.2796+40del (n.2796+40del) c.3003+40del (n.3003+40del) n.2089+40del c.3147+40del (n.3147+40del) c.3144+40del (n.3144+40del) c.2091+40del (n.2091+40del) c.2937+40del (n.2937+40del) c.2457+40del (n.2457+40del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47978253G>A | CA6534922 | COL2A1 | c.2796+38C>T (n.2796+38C>T) c.3003+38C>T (n.3003+38C>T) n.2089+38C>T c.3147+38C>T (n.3147+38C>T) c.3144+38C>T (n.3144+38C>T) c.2091+38C>T (n.2091+38C>T) c.2937+38C>T (n.2937+38C>T) c.2457+38C>T (n.2457+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978253G= | CA2034476788 | COL2A1 | c.2796+38C= (n.2796+38C=) c.3003+38C= (n.3003+38C=) n.2089+38C= c.3147+38C= (n.3147+38C=) c.3144+38C= (n.3144+38C=) c.2091+38C= (n.2091+38C=) c.2937+38C= (n.2937+38C=) c.2457+38C= (n.2457+38C=) | |
12 | g.47978255C= | CA2034476789 | COL2A1 | c.2796+36G= (n.2796+36G=) c.3003+36G= (n.3003+36G=) n.2089+36G= c.3147+36G= (n.3147+36G=) c.3144+36G= (n.3144+36G=) c.2091+36G= (n.2091+36G=) c.2937+36G= (n.2937+36G=) c.2457+36G= (n.2457+36G=) | |
12 | g.47978255C>T | CA605231474 | COL2A1 | c.2796+36G>A (n.2796+36G>A) c.3003+36G>A (n.3003+36G>A) n.2089+36G>A c.3147+36G>A (n.3147+36G>A) c.3144+36G>A (n.3144+36G>A) c.2091+36G>A (n.2091+36G>A) c.2937+36G>A (n.2937+36G>A) c.2457+36G>A (n.2457+36G>A) | dbSNP gnomAD v2 |
12 | g.47978256C>A | CA2618500137 | COL2A1 | c.2796+35G>T (n.2796+35G>T) c.3003+35G>T (n.3003+35G>T) n.2089+35G>T c.3147+35G>T (n.3147+35G>T) c.3144+35G>T (n.3144+35G>T) c.2091+35G>T (n.2091+35G>T) c.2937+35G>T (n.2937+35G>T) c.2457+35G>T (n.2457+35G>T) | gnomAD v4 |
12 | g.47978258G>T | CA2618500140 | COL2A1 | c.2796+33C>A (n.2796+33C>A) c.3003+33C>A (n.3003+33C>A) n.2089+33C>A c.3147+33C>A (n.3147+33C>A) c.3144+33C>A (n.3144+33C>A) c.2091+33C>A (n.2091+33C>A) c.2937+33C>A (n.2937+33C>A) c.2457+33C>A (n.2457+33C>A) | gnomAD v4 |
12 | g.47978259C>A | CA2575137410 | COL2A1 | c.2796+32G>T (n.2796+32G>T) c.3003+32G>T (n.3003+32G>T) n.2089+32G>T c.3147+32G>T (n.3147+32G>T) c.3144+32G>T (n.3144+32G>T) c.2091+32G>T (n.2091+32G>T) c.2937+32G>T (n.2937+32G>T) c.2457+32G>T (n.2457+32G>T) | |
12 | g.47978261T>C | CA2575137411 | COL2A1 | c.2796+30A>G (n.2796+30A>G) c.3003+30A>G (n.3003+30A>G) n.2089+30A>G c.3147+30A>G (n.3147+30A>G) c.3144+30A>G (n.3144+30A>G) c.2091+30A>G (n.2091+30A>G) c.2937+30A>G (n.2937+30A>G) c.2457+30A>G (n.2457+30A>G) | |
12 | g.47978262G>A | CA689437367 | COL2A1 | c.2796+29C>T (n.2796+29C>T) c.3003+29C>T (n.3003+29C>T) n.2089+29C>T c.3147+29C>T (n.3147+29C>T) c.3144+29C>T (n.3144+29C>T) c.2091+29C>T (n.2091+29C>T) c.2937+29C>T (n.2937+29C>T) c.2457+29C>T (n.2457+29C>T) | dbSNP gnomAD v4 |
12 | g.47978262G= | CA2034476790 | COL2A1 | c.2796+29C= (n.2796+29C=) c.3003+29C= (n.3003+29C=) n.2089+29C= c.3147+29C= (n.3147+29C=) c.3144+29C= (n.3144+29C=) c.2091+29C= (n.2091+29C=) c.2937+29C= (n.2937+29C=) c.2457+29C= (n.2457+29C=) | |
12 | g.47978262G>T | CA605231475 | COL2A1 | c.2796+29C>A (n.2796+29C>A) c.3003+29C>A (n.3003+29C>A) n.2089+29C>A c.3147+29C>A (n.3147+29C>A) c.3144+29C>A (n.3144+29C>A) c.2091+29C>A (n.2091+29C>A) c.2937+29C>A (n.2937+29C>A) c.2457+29C>A (n.2457+29C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978263dup | CA2840841087 | COL2A1 | c.2796+29dup (n.2796+29dup) c.3003+29dup (n.3003+29dup) n.2089+29dup c.3147+29dup (n.3147+29dup) c.3144+29dup (n.3144+29dup) c.2091+29dup (n.2091+29dup) c.2937+29dup (n.2937+29dup) c.2457+29dup (n.2457+29dup) | |
12 | g.47978263G>C | CA2795861562 | COL2A1 | c.2796+28C>G (n.2796+28C>G) c.3003+28C>G (n.3003+28C>G) n.2089+28C>G c.3147+28C>G (n.3147+28C>G) c.3144+28C>G (n.3144+28C>G) c.2091+28C>G (n.2091+28C>G) c.2937+28C>G (n.2937+28C>G) c.2457+28C>G (n.2457+28C>G) | |
12 | g.47978264A= | CA2034476791 | COL2A1 | c.2796+27T= (n.2796+27T=) c.3003+27T= (n.3003+27T=) n.2089+27T= c.3147+27T= (n.3147+27T=) c.3144+27T= (n.3144+27T=) c.2091+27T= (n.2091+27T=) c.2937+27T= (n.2937+27T=) c.2457+27T= (n.2457+27T=) | |
12 | g.47978264A>G | CA6534923 | COL2A1 | c.2796+27T>C (n.2796+27T>C) c.3003+27T>C (n.3003+27T>C) n.2089+27T>C c.3147+27T>C (n.3147+27T>C) c.3144+27T>C (n.3144+27T>C) c.2091+27T>C (n.2091+27T>C) c.2937+27T>C (n.2937+27T>C) c.2457+27T>C (n.2457+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978265T>A | CA947352064 | COL2A1 | c.2796+26A>T (n.2796+26A>T) c.3003+26A>T (n.3003+26A>T) n.2089+26A>T c.3147+26A>T (n.3147+26A>T) c.3144+26A>T (n.3144+26A>T) c.2091+26A>T (n.2091+26A>T) c.2937+26A>T (n.2937+26A>T) c.2457+26A>T (n.2457+26A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47978265T>G | CA6534924 | COL2A1 | c.2796+26A>C (n.2796+26A>C) c.3003+26A>C (n.3003+26A>C) n.2089+26A>C c.3147+26A>C (n.3147+26A>C) c.3144+26A>C (n.3144+26A>C) c.2091+26A>C (n.2091+26A>C) c.2937+26A>C (n.2937+26A>C) c.2457+26A>C (n.2457+26A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978265T= | CA2034476792 | COL2A1 | c.2796+26A= (n.2796+26A=) c.3003+26A= (n.3003+26A=) n.2089+26A= c.3147+26A= (n.3147+26A=) c.3144+26A= (n.3144+26A=) c.2091+26A= (n.2091+26A=) c.2937+26A= (n.2937+26A=) c.2457+26A= (n.2457+26A=) | |
12 | g.47978266G>A | CA2034476794 | COL2A1 | c.2796+25C>T (n.2796+25C>T) c.3003+25C>T (n.3003+25C>T) n.2089+25C>T c.3147+25C>T (n.3147+25C>T) c.3144+25C>T (n.3144+25C>T) c.2091+25C>T (n.2091+25C>T) c.2937+25C>T (n.2937+25C>T) c.2457+25C>T (n.2457+25C>T) | dbSNP |
12 | g.47978266G= | CA2034476793 | COL2A1 | c.2796+25C= (n.2796+25C=) c.3003+25C= (n.3003+25C=) n.2089+25C= c.3147+25C= (n.3147+25C=) c.3144+25C= (n.3144+25C=) c.2091+25C= (n.2091+25C=) c.2937+25C= (n.2937+25C=) c.2457+25C= (n.2457+25C=) | |
12 | g.47978267G>C | CA6534925 | COL2A1 | c.2796+24C>G (n.2796+24C>G) c.3003+24C>G (n.3003+24C>G) n.2089+24C>G c.3147+24C>G (n.3147+24C>G) c.3144+24C>G (n.3144+24C>G) c.2091+24C>G (n.2091+24C>G) c.2937+24C>G (n.2937+24C>G) c.2457+24C>G (n.2457+24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978267G= | CA2034476795 | COL2A1 | c.2796+24C= (n.2796+24C=) c.3003+24C= (n.3003+24C=) n.2089+24C= c.3147+24C= (n.3147+24C=) c.3144+24C= (n.3144+24C=) c.2091+24C= (n.2091+24C=) c.2937+24C= (n.2937+24C=) c.2457+24C= (n.2457+24C=) | |
12 | g.47978267G>T | CA2795861567 | COL2A1 | c.2796+24C>A (n.2796+24C>A) c.3003+24C>A (n.3003+24C>A) n.2089+24C>A c.3147+24C>A (n.3147+24C>A) c.3144+24C>A (n.3144+24C>A) c.2091+24C>A (n.2091+24C>A) c.2937+24C>A (n.2937+24C>A) c.2457+24C>A (n.2457+24C>A) | |
12 | g.47978268A= | CA2034476796 | COL2A1 | c.2796+23T= (n.2796+23T=) c.3003+23T= (n.3003+23T=) n.2089+23T= c.3147+23T= (n.3147+23T=) c.3144+23T= (n.3144+23T=) c.2091+23T= (n.2091+23T=) c.2937+23T= (n.2937+23T=) c.2457+23T= (n.2457+23T=) | |
12 | g.47978269G>A | CA2618500164 | COL2A1 | c.2796+22C>T (n.2796+22C>T) c.3003+22C>T (n.3003+22C>T) n.2089+22C>T c.3147+22C>T (n.3147+22C>T) c.3144+22C>T (n.3144+22C>T) c.2091+22C>T (n.2091+22C>T) c.2937+22C>T (n.2937+22C>T) c.2457+22C>T (n.2457+22C>T) | gnomAD v4 |
12 | g.47978269G>C | CA6534926 | COL2A1 | c.2796+22C>G (n.2796+22C>G) c.3003+22C>G (n.3003+22C>G) n.2089+22C>G c.3147+22C>G (n.3147+22C>G) c.3144+22C>G (n.3144+22C>G) c.2091+22C>G (n.2091+22C>G) c.2937+22C>G (n.2937+22C>G) c.2457+22C>G (n.2457+22C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978269G= | CA2034476798 | COL2A1 | c.2796+22C= (n.2796+22C=) c.3003+22C= (n.3003+22C=) n.2089+22C= c.3147+22C= (n.3147+22C=) c.3144+22C= (n.3144+22C=) c.2091+22C= (n.2091+22C=) c.2937+22C= (n.2937+22C=) c.2457+22C= (n.2457+22C=) | |
12 | g.47978269G>T | CA2618500169 | COL2A1 | c.2796+22C>A (n.2796+22C>A) c.3003+22C>A (n.3003+22C>A) n.2089+22C>A c.3147+22C>A (n.3147+22C>A) c.3144+22C>A (n.3144+22C>A) c.2091+22C>A (n.2091+22C>A) c.2937+22C>A (n.2937+22C>A) c.2457+22C>A (n.2457+22C>A) | gnomAD v4 |
12 | g.47978269_47978281dup | CA2034476797 | COL2A1 | c.2796+10_2796+22dup (n.2796+10_2796+22dup) c.3003+10_3003+22dup (n.3003+10_3003+22dup) n.2089+10_2089+22dup c.3147+10_3147+22dup (n.3147+10_3147+22dup) c.3144+10_3144+22dup (n.3144+10_3144+22dup) c.2091+10_2091+22dup (n.2091+10_2091+22dup) c.2937+10_2937+22dup (n.2937+10_2937+22dup) c.2457+10_2457+22dup (n.2457+10_2457+22dup) | dbSNP |
12 | g.47978271G>A | CA6534927 | COL2A1 | c.2796+20C>T (n.2796+20C>T) c.3003+20C>T (n.3003+20C>T) n.2089+20C>T c.3147+20C>T (n.3147+20C>T) c.3144+20C>T (n.3144+20C>T) c.2091+20C>T (n.2091+20C>T) c.2937+20C>T (n.2937+20C>T) c.2457+20C>T (n.2457+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978271G= | CA2034476799 | COL2A1 | c.2796+20C= (n.2796+20C=) c.3003+20C= (n.3003+20C=) n.2089+20C= c.3147+20C= (n.3147+20C=) c.3144+20C= (n.3144+20C=) c.2091+20C= (n.2091+20C=) c.2937+20C= (n.2937+20C=) c.2457+20C= (n.2457+20C=) | |
12 | g.47978273G>A | CA605231476 | COL2A1 | c.2796+18C>T (n.2796+18C>T) c.3003+18C>T (n.3003+18C>T) n.2089+18C>T c.3147+18C>T (n.3147+18C>T) c.3144+18C>T (n.3144+18C>T) c.2091+18C>T (n.2091+18C>T) c.2937+18C>T (n.2937+18C>T) c.2457+18C>T (n.2457+18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978273G= | CA2034476800 | COL2A1 | c.2796+18C= (n.2796+18C=) c.3003+18C= (n.3003+18C=) n.2089+18C= c.3147+18C= (n.3147+18C=) c.3144+18C= (n.3144+18C=) c.2091+18C= (n.2091+18C=) c.2937+18C= (n.2937+18C=) c.2457+18C= (n.2457+18C=) | |
12 | g.47978274G>A | CA605231477 | COL2A1 | c.2796+17C>T (n.2796+17C>T) c.3003+17C>T (n.3003+17C>T) n.2089+17C>T c.3147+17C>T (n.3147+17C>T) c.3144+17C>T (n.3144+17C>T) c.2091+17C>T (n.2091+17C>T) c.2937+17C>T (n.2937+17C>T) c.2457+17C>T (n.2457+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47978274G>C | CA2618500205 | COL2A1 | c.2796+17C>G (n.2796+17C>G) c.3003+17C>G (n.3003+17C>G) n.2089+17C>G c.3147+17C>G (n.3147+17C>G) c.3144+17C>G (n.3144+17C>G) c.2091+17C>G (n.2091+17C>G) c.2937+17C>G (n.2937+17C>G) c.2457+17C>G (n.2457+17C>G) | gnomAD v4 |
12 | g.47978274G= | CA2034476801 | COL2A1 | c.2796+17C= (n.2796+17C=) c.3003+17C= (n.3003+17C=) n.2089+17C= c.3147+17C= (n.3147+17C=) c.3144+17C= (n.3144+17C=) c.2091+17C= (n.2091+17C=) c.2937+17C= (n.2937+17C=) c.2457+17C= (n.2457+17C=) | |
12 | g.47978274_47978278delinsGGATA | CA2034476802 | COL2A1 | c.2796+13_2796+17delinsTATCC (n.2796+13_2796+17delinsTATCC) c.3003+13_3003+17delinsTATCC (n.3003+13_3003+17delinsTATCC) n.2089+13_2089+17delinsTATCC c.3147+13_3147+17delinsTATCC (n.3147+13_3147+17delinsTATCC) c.3144+13_3144+17delinsTATCC (n.3144+13_3144+17delinsTATCC) c.2091+13_2091+17delinsTATCC (n.2091+13_2091+17delinsTATCC) c.2937+13_2937+17delinsTATCC (n.2937+13_2937+17delinsTATCC) c.2457+13_2457+17delinsTATCC (n.2457+13_2457+17delinsTATCC) | |
12 | g.47978275G>T | CA2795861580 | COL2A1 | c.2796+16C>A (n.2796+16C>A) c.3003+16C>A (n.3003+16C>A) n.2089+16C>A c.3147+16C>A (n.3147+16C>A) c.3144+16C>A (n.3144+16C>A) c.2091+16C>A (n.2091+16C>A) c.2937+16C>A (n.2937+16C>A) c.2457+16C>A (n.2457+16C>A) | |
12 | g.47978275_47978278del | CA605231478 | COL2A1 | c.2796+13_2796+16del (n.2796+13_2796+16del) c.3003+13_3003+16del (n.3003+13_3003+16del) n.2089+13_2089+16del c.3147+13_3147+16del (n.3147+13_3147+16del) c.3144+13_3144+16del (n.3144+13_3144+16del) c.2091+13_2091+16del (n.2091+13_2091+16del) c.2937+13_2937+16del (n.2937+13_2937+16del) c.2457+13_2457+16del (n.2457+13_2457+16del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47978277T>C | CA6534928 | COL2A1 | c.2796+14A>G (n.2796+14A>G) c.3003+14A>G (n.3003+14A>G) n.2089+14A>G c.3147+14A>G (n.3147+14A>G) c.3144+14A>G (n.3144+14A>G) c.2091+14A>G (n.2091+14A>G) c.2937+14A>G (n.2937+14A>G) c.2457+14A>G (n.2457+14A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978277T= | CA2034476803 | COL2A1 | c.2796+14A= (n.2796+14A=) c.3003+14A= (n.3003+14A=) n.2089+14A= c.3147+14A= (n.3147+14A=) c.3144+14A= (n.3144+14A=) c.2091+14A= (n.2091+14A=) c.2937+14A= (n.2937+14A=) c.2457+14A= (n.2457+14A=) | |
12 | g.47978278A= | CA2034476804 | COL2A1 | c.2796+13T= (n.2796+13T=) c.3003+13T= (n.3003+13T=) n.2089+13T= c.3147+13T= (n.3147+13T=) c.3144+13T= (n.3144+13T=) c.2091+13T= (n.2091+13T=) c.2937+13T= (n.2937+13T=) c.2457+13T= (n.2457+13T=) | |
12 | g.47978278A>C | CA236521688 | COL2A1 | c.2796+13T>G (n.2796+13T>G) c.3003+13T>G (n.3003+13T>G) n.2089+13T>G c.3147+13T>G (n.3147+13T>G) c.3144+13T>G (n.3144+13T>G) c.2091+13T>G (n.2091+13T>G) c.2937+13T>G (n.2937+13T>G) c.2457+13T>G (n.2457+13T>G) | dbSNP |
12 | g.47978279C>A | CA605231479 | COL2A1 | c.2796+12G>T (n.2796+12G>T) c.3003+12G>T (n.3003+12G>T) n.2089+12G>T c.3147+12G>T (n.3147+12G>T) c.3144+12G>T (n.3144+12G>T) c.2091+12G>T (n.2091+12G>T) c.2937+12G>T (n.2937+12G>T) c.2457+12G>T (n.2457+12G>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47978279C= | CA2034476805 | COL2A1 | c.2796+12G= (n.2796+12G=) c.3003+12G= (n.3003+12G=) n.2089+12G= c.3147+12G= (n.3147+12G=) c.3144+12G= (n.3144+12G=) c.2091+12G= (n.2091+12G=) c.2937+12G= (n.2937+12G=) c.2457+12G= (n.2457+12G=) | |
12 | g.47978279C>T | CA6534929 | COL2A1 | c.2796+12G>A (n.2796+12G>A) c.3003+12G>A (n.3003+12G>A) n.2089+12G>A c.3147+12G>A (n.3147+12G>A) c.3144+12G>A (n.3144+12G>A) c.2091+12G>A (n.2091+12G>A) c.2937+12G>A (n.2937+12G>A) c.2457+12G>A (n.2457+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978280C= | CA2034476806 | COL2A1 | c.2796+11G= (n.2796+11G=) c.3003+11G= (n.3003+11G=) n.2089+11G= c.3147+11G= (n.3147+11G=) c.3144+11G= (n.3144+11G=) c.2091+11G= (n.2091+11G=) c.2937+11G= (n.2937+11G=) c.2457+11G= (n.2457+11G=) | |
12 | g.47978280C>G | CA605231480 | COL2A1 | c.2796+11G>C (n.2796+11G>C) c.3003+11G>C (n.3003+11G>C) n.2089+11G>C c.3147+11G>C (n.3147+11G>C) c.3144+11G>C (n.3144+11G>C) c.2091+11G>C (n.2091+11G>C) c.2937+11G>C (n.2937+11G>C) c.2457+11G>C (n.2457+11G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47978281C= | CA2034476807 | COL2A1 | c.2796+10G= (n.2796+10G=) c.3003+10G= (n.3003+10G=) n.2089+10G= c.3147+10G= (n.3147+10G=) c.3144+10G= (n.3144+10G=) c.2091+10G= (n.2091+10G=) c.2937+10G= (n.2937+10G=) c.2457+10G= (n.2457+10G=) | |
12 | g.47978281C>T | CA605231481 | COL2A1 | c.2796+10G>A (n.2796+10G>A) c.3003+10G>A (n.3003+10G>A) n.2089+10G>A c.3147+10G>A (n.3147+10G>A) c.3144+10G>A (n.3144+10G>A) c.2091+10G>A (n.2091+10G>A) c.2937+10G>A (n.2937+10G>A) c.2457+10G>A (n.2457+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978282C= | CA2034476808 | COL2A1 | c.2796+9G= (n.2796+9G=) c.3003+9G= (n.3003+9G=) n.2089+9G= c.3147+9G= (n.3147+9G=) c.3144+9G= (n.3144+9G=) c.2091+9G= (n.2091+9G=) c.2937+9G= (n.2937+9G=) c.2457+9G= (n.2457+9G=) | |
12 | g.47978282C>T | CA6534930 | COL2A1 | c.2796+9G>A (n.2796+9G>A) c.3003+9G>A (n.3003+9G>A) n.2089+9G>A c.3147+9G>A (n.3147+9G>A) c.3144+9G>A (n.3144+9G>A) c.2091+9G>A (n.2091+9G>A) c.2937+9G>A (n.2937+9G>A) c.2457+9G>A (n.2457+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978284C>A | CA6534931 | COL2A1 | c.2796+7G>T (n.2796+7G>T) c.3003+7G>T (n.3003+7G>T) n.2089+7G>T c.3147+7G>T (n.3147+7G>T) c.3144+7G>T (n.3144+7G>T) c.2091+7G>T (n.2091+7G>T) c.2937+7G>T (n.2937+7G>T) c.2457+7G>T (n.2457+7G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978284C= | CA2034476809 | COL2A1 | c.2796+7G= (n.2796+7G=) c.3003+7G= (n.3003+7G=) n.2089+7G= c.3147+7G= (n.3147+7G=) c.3144+7G= (n.3144+7G=) c.2091+7G= (n.2091+7G=) c.2937+7G= (n.2937+7G=) c.2457+7G= (n.2457+7G=) | |
12 | g.47978285A= | CA2034476810 | COL2A1 | c.2796+6T= (n.2796+6T=) c.3003+6T= (n.3003+6T=) n.2089+6T= c.3147+6T= (n.3147+6T=) c.3144+6T= (n.3144+6T=) c.2091+6T= (n.2091+6T=) c.2937+6T= (n.2937+6T=) c.2457+6T= (n.2457+6T=) | |
12 | g.47978285A>C | CA2034476811 | COL2A1 | c.2796+6T>G (n.2796+6T>G) c.3003+6T>G (n.3003+6T>G) n.2089+6T>G c.3147+6T>G (n.3147+6T>G) c.3144+6T>G (n.3144+6T>G) c.2091+6T>G (n.2091+6T>G) c.2937+6T>G (n.2937+6T>G) c.2457+6T>G (n.2457+6T>G) | dbSNP |
12 | g.47978285A>T | CA2580085518 | COL2A1 | c.2796+6T>A (n.2796+6T>A) c.3003+6T>A (n.3003+6T>A) n.2089+6T>A c.3147+6T>A (n.3147+6T>A) c.3144+6T>A (n.3144+6T>A) c.2091+6T>A (n.2091+6T>A) c.2937+6T>A (n.2937+6T>A) c.2457+6T>A (n.2457+6T>A) | ClinVar |
12 | g.47978286C>T | CA2695216647 | COL2A1 | c.2796+5G>A (n.2796+5G>A) c.3003+5G>A (n.3003+5G>A) n.2089+5G>A c.3147+5G>A (n.3147+5G>A) c.3144+5G>A (n.3144+5G>A) c.2091+5G>A (n.2091+5G>A) c.2937+5G>A (n.2937+5G>A) c.2457+5G>A (n.2457+5G>A) | |
12 | g.47978289A>C | CA384541069 | COL2A1 | c.2796+2T>G (n.2796+2T>G) c.3003+2T>G (n.3003+2T>G) n.2089+2T>G c.3147+2T>G (n.3147+2T>G) c.3144+2T>G (n.3144+2T>G) c.2091+2T>G (n.2091+2T>G) c.2937+2T>G (n.2937+2T>G) c.2457+2T>G (n.2457+2T>G) | |
12 | g.47978289A>G | CA384541071 | COL2A1 | c.2796+2T>C (n.2796+2T>C) c.3003+2T>C (n.3003+2T>C) n.2089+2T>C c.3147+2T>C (n.3147+2T>C) c.3144+2T>C (n.3144+2T>C) c.2091+2T>C (n.2091+2T>C) c.2937+2T>C (n.2937+2T>C) c.2457+2T>C (n.2457+2T>C) | |
12 | g.47978289A>T | CA384541072 | COL2A1 | c.2796+2T>A (n.2796+2T>A) c.3003+2T>A (n.3003+2T>A) n.2089+2T>A c.3147+2T>A (n.3147+2T>A) c.3144+2T>A (n.3144+2T>A) c.2091+2T>A (n.2091+2T>A) c.2937+2T>A (n.2937+2T>A) c.2457+2T>A (n.2457+2T>A) | |
12 | g.47978290C>A | CA384541075 | COL2A1 | c.2796+1G>T (n.2796+1G>T) c.3003+1G>T (n.3003+1G>T) n.2089+1G>T c.3147+1G>T (n.3147+1G>T) c.3144+1G>T (n.3144+1G>T) c.2091+1G>T (n.2091+1G>T) c.2937+1G>T (n.2937+1G>T) c.2457+1G>T (n.2457+1G>T) | gnomAD v4 |
12 | g.47978290C>G | CA384541076 | COL2A1 | c.2796+1G>C (n.2796+1G>C) c.3003+1G>C (n.3003+1G>C) n.2089+1G>C c.3147+1G>C (n.3147+1G>C) c.3144+1G>C (n.3144+1G>C) c.2091+1G>C (n.2091+1G>C) c.2937+1G>C (n.2937+1G>C) c.2457+1G>C (n.2457+1G>C) | |
12 | g.47978290C>T | CA384541078 | COL2A1 | c.2796+1G>A (n.2796+1G>A) c.3003+1G>A (n.3003+1G>A) n.2089+1G>A c.3147+1G>A (n.3147+1G>A) c.3144+1G>A (n.3144+1G>A) c.2091+1G>A (n.2091+1G>A) c.2937+1G>A (n.2937+1G>A) c.2457+1G>A (n.2457+1G>A) | |
12 | g.47978291C>A | CA479696633 | COL2A1 | c.2796G>T (p.Ser932=) c.3003G>T (p.Ser1001=) n.2089G>T c.3147G>T (p.Ser1049=) c.3144G>T (p.Ser1048=) c.2091G>T (p.Ser697=) c.2937G>T (p.Ser979=) c.2457G>T (p.Ser819=) | |
12 | g.47978291C= | CA2034476812 | COL2A1 | c.2796G= (p.Ser932=) c.3003G= (p.Ser1001=) n.2089G= c.3147G= (p.Ser1049=) c.3144G= (p.Ser1048=) c.2091G= (p.Ser697=) c.2937G= (p.Ser979=) c.2457G= (p.Ser819=) | |
12 | g.47978291C>G | CA479696631 | COL2A1 | c.2796G>C (p.Ser932=) c.3003G>C (p.Ser1001=) n.2089G>C c.3147G>C (p.Ser1049=) c.3144G>C (p.Ser1048=) c.2091G>C (p.Ser697=) c.2937G>C (p.Ser979=) c.2457G>C (p.Ser819=) | |
12 | g.47978291C>T | CA479696632 | COL2A1 | c.2796G>A (p.Ser932=) c.3003G>A (p.Ser1001=) n.2089G>A c.3147G>A (p.Ser1049=) c.3144G>A (p.Ser1048=) c.2091G>A (p.Ser697=) c.2937G>A (p.Ser979=) c.2457G>A (p.Ser819=) | ClinVar dbSNP gnomAD v4 |
12 | g.47978292G>A | CA6534932 | COL2A1 | c.2795C>T (p.Ser932Leu) c.3002C>T (p.Ser1001Leu) n.2088C>T c.3146C>T (p.Ser1049Leu) c.3143C>T (p.Ser1048Leu) c.2090C>T (p.Ser697Leu) c.2936C>T (p.Ser979Leu) c.2456C>T (p.Ser819Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47978292G>C | CA384541083 | COL2A1 | c.2795C>G (p.Ser932Trp) c.3002C>G (p.Ser1001Trp) n.2088C>G c.3146C>G (p.Ser1049Trp) c.3143C>G (p.Ser1048Trp) c.2090C>G (p.Ser697Trp) c.2936C>G (p.Ser979Trp) c.2456C>G (p.Ser819Trp) | |
12 | g.47978292G= | CA2034476813 | COL2A1 | c.2795C= (p.Ser932=) c.3002C= (p.Ser1001=) n.2088C= c.3146C= (p.Ser1049=) c.3143C= (p.Ser1048=) c.2090C= (p.Ser697=) c.2936C= (p.Ser979=) c.2456C= (p.Ser819=) | |
12 | g.47978292G>T | CA384541081 | COL2A1 | c.2795C>A (p.Ser932Ter) c.3002C>A (p.Ser1001Ter) n.2088C>A c.3146C>A (p.Ser1049Ter) c.3143C>A (p.Ser1048Ter) c.2090C>A (p.Ser697Ter) c.2936C>A (p.Ser979Ter) c.2456C>A (p.Ser819Ter) | |
12 | g.47978293A>C | CA384541086 | COL2A1 | c.2794T>G (p.Ser932Ala) c.3001T>G (p.Ser1001Ala) n.2087T>G c.3145T>G (p.Ser1049Ala) c.3142T>G (p.Ser1048Ala) c.2089T>G (p.Ser697Ala) c.2935T>G (p.Ser979Ala) c.2455T>G (p.Ser819Ala) | |
12 | g.47978293A>G | CA384541087 | COL2A1 | c.2794T>C (p.Ser932Pro) c.3001T>C (p.Ser1001Pro) n.2087T>C c.3145T>C (p.Ser1049Pro) c.3142T>C (p.Ser1048Pro) c.2089T>C (p.Ser697Pro) c.2935T>C (p.Ser979Pro) c.2455T>C (p.Ser819Pro) | |
12 | g.47978293A>T | CA384541089 | COL2A1 | c.2794T>A (p.Ser932Thr) c.3001T>A (p.Ser1001Thr) n.2087T>A c.3145T>A (p.Ser1049Thr) c.3142T>A (p.Ser1048Thr) c.2089T>A (p.Ser697Thr) c.2935T>A (p.Ser979Thr) c.2455T>A (p.Ser819Thr) | |
12 | g.47978293_47978294del | CA2573148632 | COL2A1 | c.2793_2794del (p.Ser932GlyfsTer2) c.3000_3001del (p.Ser1001GlyfsTer2) n.2086_2087del c.3144_3145del (p.Ser1049GlyfsTer2) c.3141_3142del (p.Ser1048GlyfsTer2) c.2088_2089del (p.Ser697GlyfsTer2) c.2934_2935del (p.Ser979GlyfsTer2) c.2454_2455del (p.Ser819GlyfsTer2) | ClinVar dbSNP gnomAD v4 |
12 | g.47978294C>A | CA479696634 | COL2A1 | c.2793G>T (p.Pro931=) c.3000G>T (p.Pro1000=) n.2086G>T c.3144G>T (p.Pro1048=) c.3141G>T (p.Pro1047=) c.2088G>T (p.Pro696=) c.2934G>T (p.Pro978=) c.2454G>T (p.Pro818=) | |
12 | g.47978294C= | CA2034476814 | COL2A1 | c.2793G= (p.Pro931=) c.3000G= (p.Pro1000=) n.2086G= c.3144G= (p.Pro1048=) c.3141G= (p.Pro1047=) c.2088G= (p.Pro696=) c.2934G= (p.Pro978=) c.2454G= (p.Pro818=) | |
12 | g.47978294C>G | CA479696635 | COL2A1 | c.2793G>C (p.Pro931=) c.3000G>C (p.Pro1000=) n.2086G>C c.3144G>C (p.Pro1048=) c.3141G>C (p.Pro1047=) c.2088G>C (p.Pro696=) c.2934G>C (p.Pro978=) c.2454G>C (p.Pro818=) | |
12 | g.47978294C>T | CA6534933 | COL2A1 | c.2793G>A (p.Pro931=) c.3000G>A (p.Pro1000=) n.2086G>A c.3144G>A (p.Pro1048=) c.3141G>A (p.Pro1047=) c.2088G>A (p.Pro696=) c.2934G>A (p.Pro978=) c.2454G>A (p.Pro818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978295G>A | CA6534934 | COL2A1 | c.2792C>T (p.Pro931Leu) c.2999C>T (p.Pro1000Leu) n.2085C>T c.3143C>T (p.Pro1048Leu) c.3140C>T (p.Pro1047Leu) c.2087C>T (p.Pro696Leu) c.2933C>T (p.Pro978Leu) c.2453C>T (p.Pro818Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978295G>C | CA384541094 | COL2A1 | c.2792C>G (p.Pro931Arg) c.2999C>G (p.Pro1000Arg) n.2085C>G c.3143C>G (p.Pro1048Arg) c.3140C>G (p.Pro1047Arg) c.2087C>G (p.Pro696Arg) c.2933C>G (p.Pro978Arg) c.2453C>G (p.Pro818Arg) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47978295G= | CA2034476815 | COL2A1 | c.2792C= (p.Pro931=) c.2999C= (p.Pro1000=) n.2085C= c.3143C= (p.Pro1048=) c.3140C= (p.Pro1047=) c.2087C= (p.Pro696=) c.2933C= (p.Pro978=) c.2453C= (p.Pro818=) | |
12 | g.47978295G>T | CA384541095 | COL2A1 | c.2792C>A (p.Pro931Gln) c.2999C>A (p.Pro1000Gln) n.2085C>A c.3143C>A (p.Pro1048Gln) c.3140C>A (p.Pro1047Gln) c.2087C>A (p.Pro696Gln) c.2933C>A (p.Pro978Gln) c.2453C>A (p.Pro818Gln) | |
12 | g.47978297del | CA2695216648 | COL2A1 | c.2792del (p.Pro931ArgfsTer28) c.2999del (p.Pro1000ArgfsTer28) n.2085del c.3143del (p.Pro1048ArgfsTer28) c.3140del (p.Pro1047ArgfsTer28) c.2087del (p.Pro696ArgfsTer28) c.2933del (p.Pro978ArgfsTer28) c.2453del (p.Pro818ArgfsTer28) | |
12 | g.47978296G>A | CA384541098 | COL2A1 | c.2791C>T (p.Pro931Ser) c.2998C>T (p.Pro1000Ser) n.2084C>T c.3142C>T (p.Pro1048Ser) c.3139C>T (p.Pro1047Ser) c.2086C>T (p.Pro696Ser) c.2932C>T (p.Pro978Ser) c.2452C>T (p.Pro818Ser) | gnomAD v4 |
12 | g.47978296G>C | CA384541099 | COL2A1 | c.2791C>G (p.Pro931Ala) c.2998C>G (p.Pro1000Ala) n.2084C>G c.3142C>G (p.Pro1048Ala) c.3139C>G (p.Pro1047Ala) c.2086C>G (p.Pro696Ala) c.2932C>G (p.Pro978Ala) c.2452C>G (p.Pro818Ala) | |
12 | g.47978296G>T | CA384541100 | COL2A1 | c.2791C>A (p.Pro931Thr) c.2998C>A (p.Pro1000Thr) n.2084C>A c.3142C>A (p.Pro1048Thr) c.3139C>A (p.Pro1047Thr) c.2086C>A (p.Pro696Thr) c.2932C>A (p.Pro978Thr) c.2452C>A (p.Pro818Thr) | ClinVar |
12 | g.47978297G>A | CA6534935 | COL2A1 | c.2790C>T (p.Gly930=) c.2997C>T (p.Gly999=) n.2083C>T c.3141C>T (p.Gly1047=) c.3138C>T (p.Gly1046=) c.2085C>T (p.Gly695=) c.2931C>T (p.Gly977=) c.2451C>T (p.Gly817=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978297G>C | CA6534936 | COL2A1 | c.2790C>G (p.Gly930=) c.2997C>G (p.Gly999=) n.2083C>G c.3141C>G (p.Gly1047=) c.3138C>G (p.Gly1046=) c.2085C>G (p.Gly695=) c.2931C>G (p.Gly977=) c.2451C>G (p.Gly817=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978297G= | CA2034476816 | COL2A1 | c.2790C= (p.Gly930=) c.2997C= (p.Gly999=) n.2083C= c.3141C= (p.Gly1047=) c.3138C= (p.Gly1046=) c.2085C= (p.Gly695=) c.2931C= (p.Gly977=) c.2451C= (p.Gly817=) | |
12 | g.47978297G>T | CA479696636 | COL2A1 | c.2790C>A (p.Gly930=) c.2997C>A (p.Gly999=) n.2083C>A c.3141C>A (p.Gly1047=) c.3138C>A (p.Gly1046=) c.2085C>A (p.Gly695=) c.2931C>A (p.Gly977=) c.2451C>A (p.Gly817=) | dbSNP gnomAD v2 |
12 | g.47978303_47978311del | CA2573148633 | COL2A1 | c.2782_2790del (p.Leu928_Gly930del) c.2989_2997del (p.Leu997_Gly999del) n.2075_2083del c.3133_3141del (p.Leu1045_Gly1047del) c.3130_3138del (p.Leu1044_Gly1046del) c.2077_2085del (p.Leu693_Gly695del) c.2923_2931del (p.Leu975_Gly977del) c.2443_2451del (p.Leu815_Gly817del) | ClinVar dbSNP |
12 | g.47978298C>A | CA384541109 | COL2A1 | c.2789G>T (p.Gly930Val) c.2996G>T (p.Gly999Val) n.2082G>T c.3140G>T (p.Gly1047Val) c.3137G>T (p.Gly1046Val) c.2084G>T (p.Gly695Val) c.2930G>T (p.Gly977Val) c.2450G>T (p.Gly817Val) | |
12 | g.47978298C>G | CA384541110 | COL2A1 | c.2789G>C (p.Gly930Ala) c.2996G>C (p.Gly999Ala) n.2082G>C c.3140G>C (p.Gly1047Ala) c.3137G>C (p.Gly1046Ala) c.2084G>C (p.Gly695Ala) c.2930G>C (p.Gly977Ala) c.2450G>C (p.Gly817Ala) | |
12 | g.47978298C>T | CA384541107 | COL2A1 | c.2789G>A (p.Gly930Asp) c.2996G>A (p.Gly999Asp) n.2082G>A c.3140G>A (p.Gly1047Asp) c.3137G>A (p.Gly1046Asp) c.2084G>A (p.Gly695Asp) c.2930G>A (p.Gly977Asp) c.2450G>A (p.Gly817Asp) | |
12 | g.47978299C>A | CA384541117 | COL2A1 | c.2788G>T (p.Gly930Cys) c.2995G>T (p.Gly999Cys) n.2081G>T c.3139G>T (p.Gly1047Cys) c.3136G>T (p.Gly1046Cys) c.2083G>T (p.Gly695Cys) c.2929G>T (p.Gly977Cys) c.2449G>T (p.Gly817Cys) | ClinVar dbSNP |
12 | g.47978299C>G | CA384541113 | COL2A1 | c.2788G>C (p.Gly930Arg) c.2995G>C (p.Gly999Arg) n.2081G>C c.3139G>C (p.Gly1047Arg) c.3136G>C (p.Gly1046Arg) c.2083G>C (p.Gly695Arg) c.2929G>C (p.Gly977Arg) c.2449G>C (p.Gly817Arg) | |
12 | g.47978299C>T | CA384541115 | COL2A1 | c.2788G>A (p.Gly930Ser) c.2995G>A (p.Gly999Ser) n.2081G>A c.3139G>A (p.Gly1047Ser) c.3136G>A (p.Gly1046Ser) c.2083G>A (p.Gly695Ser) c.2929G>A (p.Gly977Ser) c.2449G>A (p.Gly817Ser) | |
12 | g.47978300A>C | CA479696637 | COL2A1 | c.2787T>G (p.Pro929=) c.2994T>G (p.Pro998=) n.2080T>G c.3138T>G (p.Pro1046=) c.3135T>G (p.Pro1045=) c.2082T>G (p.Pro694=) c.2928T>G (p.Pro976=) c.2448T>G (p.Pro816=) | |
12 | g.47978300A>G | CA479696638 | COL2A1 | c.2787T>C (p.Pro929=) c.2994T>C (p.Pro998=) n.2080T>C c.3138T>C (p.Pro1046=) c.3135T>C (p.Pro1045=) c.2082T>C (p.Pro694=) c.2928T>C (p.Pro976=) c.2448T>C (p.Pro816=) | |
12 | g.47978300A>T | CA479696639 | COL2A1 | c.2787T>A (p.Pro929=) c.2994T>A (p.Pro998=) n.2080T>A c.3138T>A (p.Pro1046=) c.3135T>A (p.Pro1045=) c.2082T>A (p.Pro694=) c.2928T>A (p.Pro976=) c.2448T>A (p.Pro816=) | |
12 | g.47978301G>A | CA6534937 | COL2A1 | c.2786C>T (p.Pro929Leu) c.2993C>T (p.Pro998Leu) n.2079C>T c.3137C>T (p.Pro1046Leu) c.3134C>T (p.Pro1045Leu) c.2081C>T (p.Pro694Leu) c.2927C>T (p.Pro976Leu) c.2447C>T (p.Pro816Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978301G>C | CA384541121 | COL2A1 | c.2786C>G (p.Pro929Arg) c.2993C>G (p.Pro998Arg) n.2079C>G c.3137C>G (p.Pro1046Arg) c.3134C>G (p.Pro1045Arg) c.2081C>G (p.Pro694Arg) c.2927C>G (p.Pro976Arg) c.2447C>G (p.Pro816Arg) | dbSNP |
12 | g.47978301G= | CA2034476817 | COL2A1 | c.2786C= (p.Pro929=) c.2993C= (p.Pro998=) n.2079C= c.3137C= (p.Pro1046=) c.3134C= (p.Pro1045=) c.2081C= (p.Pro694=) c.2927C= (p.Pro976=) c.2447C= (p.Pro816=) | |
12 | g.47978301G>T | CA384541123 | COL2A1 | c.2786C>A (p.Pro929His) c.2993C>A (p.Pro998His) n.2079C>A c.3137C>A (p.Pro1046His) c.3134C>A (p.Pro1045His) c.2081C>A (p.Pro694His) c.2927C>A (p.Pro976His) c.2447C>A (p.Pro816His) | |
12 | g.47978302G>A | CA384541126 | COL2A1 | c.2785C>T (p.Pro929Ser) c.2992C>T (p.Pro998Ser) n.2078C>T c.3136C>T (p.Pro1046Ser) c.3133C>T (p.Pro1045Ser) c.2080C>T (p.Pro694Ser) c.2926C>T (p.Pro976Ser) c.2446C>T (p.Pro816Ser) | dbSNP gnomAD v2 |
12 | g.47978302G>C | CA384541128 | COL2A1 | c.2785C>G (p.Pro929Ala) c.2992C>G (p.Pro998Ala) n.2078C>G c.3136C>G (p.Pro1046Ala) c.3133C>G (p.Pro1045Ala) c.2080C>G (p.Pro694Ala) c.2926C>G (p.Pro976Ala) c.2446C>G (p.Pro816Ala) | |
12 | g.47978302G= | CA2034476818 | COL2A1 | c.2785C= (p.Pro929=) c.2992C= (p.Pro998=) n.2078C= c.3136C= (p.Pro1046=) c.3133C= (p.Pro1045=) c.2080C= (p.Pro694=) c.2926C= (p.Pro976=) c.2446C= (p.Pro816=) | |
12 | g.47978302G>T | CA6534938 | COL2A1 | c.2785C>A (p.Pro929Thr) c.2992C>A (p.Pro998Thr) n.2078C>A c.3136C>A (p.Pro1046Thr) c.3133C>A (p.Pro1045Thr) c.2080C>A (p.Pro694Thr) c.2926C>A (p.Pro976Thr) c.2446C>A (p.Pro816Thr) | dbSNP ExAC gnomAD v2 |
12 | g.47978303del | CA2575137425 | COL2A1 | c.2784del (p.Leu928PhefsTer?) c.2991del (p.Leu997PhefsTer?) n.2077del c.3135del (p.Leu1045PhefsTer?) c.3132del (p.Leu1044PhefsTer?) c.2079del (p.Leu693PhefsTer?) c.2925del (p.Leu975PhefsTer?) c.2445del (p.Leu815PhefsTer?) | |
12 | g.47978303C>A | CA384541130 | COL2A1 | c.2784G>T (p.Leu928Phe) c.2991G>T (p.Leu997Phe) n.2077G>T c.3135G>T (p.Leu1045Phe) c.3132G>T (p.Leu1044Phe) c.2079G>T (p.Leu693Phe) c.2925G>T (p.Leu975Phe) c.2445G>T (p.Leu815Phe) | dbSNP |
12 | g.47978303C= | CA2034476819 | COL2A1 | c.2784G= (p.Leu928=) c.2991G= (p.Leu997=) n.2077G= c.3135G= (p.Leu1045=) c.3132G= (p.Leu1044=) c.2079G= (p.Leu693=) c.2925G= (p.Leu975=) c.2445G= (p.Leu815=) | |
12 | g.47978303C>G | CA384541132 | COL2A1 | c.2784G>C (p.Leu928Phe) c.2991G>C (p.Leu997Phe) n.2077G>C c.3135G>C (p.Leu1045Phe) c.3132G>C (p.Leu1044Phe) c.2079G>C (p.Leu693Phe) c.2925G>C (p.Leu975Phe) c.2445G>C (p.Leu815Phe) | |
12 | g.47978303C>T | CA479696640 | COL2A1 | c.2784G>A (p.Leu928=) c.2991G>A (p.Leu997=) n.2077G>A c.3135G>A (p.Leu1045=) c.3132G>A (p.Leu1044=) c.2079G>A (p.Leu693=) c.2925G>A (p.Leu975=) c.2445G>A (p.Leu815=) | |
12 | g.47978304A= | CA2034476820 | COL2A1 | c.2783T= (p.Leu928=) c.2990T= (p.Leu997=) n.2076T= c.3134T= (p.Leu1045=) c.3131T= (p.Leu1044=) c.2078T= (p.Leu693=) c.2924T= (p.Leu975=) c.2444T= (p.Leu815=) | |
12 | g.47978304A>C | CA384541134 | COL2A1 | c.2783T>G (p.Leu928Trp) c.2990T>G (p.Leu997Trp) n.2076T>G c.3134T>G (p.Leu1045Trp) c.3131T>G (p.Leu1044Trp) c.2078T>G (p.Leu693Trp) c.2924T>G (p.Leu975Trp) c.2444T>G (p.Leu815Trp) | dbSNP gnomAD v4 |
12 | g.47978304A>G | CA384541136 | COL2A1 | c.2783T>C (p.Leu928Ser) c.2990T>C (p.Leu997Ser) n.2076T>C c.3134T>C (p.Leu1045Ser) c.3131T>C (p.Leu1044Ser) c.2078T>C (p.Leu693Ser) c.2924T>C (p.Leu975Ser) c.2444T>C (p.Leu815Ser) | |
12 | g.47978304A>T | CA384541138 | COL2A1 | c.2783T>A (p.Leu928Ter) c.2990T>A (p.Leu997Ter) n.2076T>A c.3134T>A (p.Leu1045Ter) c.3131T>A (p.Leu1044Ter) c.2078T>A (p.Leu693Ter) c.2924T>A (p.Leu975Ter) c.2444T>A (p.Leu815Ter) | |
12 | g.47978305A>C | CA384541140 | COL2A1 | c.2782T>G (p.Leu928Val) c.2989T>G (p.Leu997Val) n.2075T>G c.3133T>G (p.Leu1045Val) c.3130T>G (p.Leu1044Val) c.2077T>G (p.Leu693Val) c.2923T>G (p.Leu975Val) c.2443T>G (p.Leu815Val) | |
12 | g.47978305A>G | CA479696641 | COL2A1 | c.2782T>C (p.Leu928=) c.2989T>C (p.Leu997=) n.2075T>C c.3133T>C (p.Leu1045=) c.3130T>C (p.Leu1044=) c.2077T>C (p.Leu693=) c.2923T>C (p.Leu975=) c.2443T>C (p.Leu815=) | |
12 | g.47978305A>T | CA384541142 | COL2A1 | c.2782T>A (p.Leu928Met) c.2989T>A (p.Leu997Met) n.2075T>A c.3133T>A (p.Leu1045Met) c.3130T>A (p.Leu1044Met) c.2077T>A (p.Leu693Met) c.2923T>A (p.Leu975Met) c.2443T>A (p.Leu815Met) | |
12 | g.47978306G>A | CA479696643 | COL2A1 | c.2781C>T (p.Gly927=) c.2988C>T (p.Gly996=) n.2074C>T c.3132C>T (p.Gly1044=) c.3129C>T (p.Gly1043=) c.2076C>T (p.Gly692=) c.2922C>T (p.Gly974=) c.2442C>T (p.Gly814=) | |
12 | g.47978306G>C | CA479696644 | COL2A1 | c.2781C>G (p.Gly927=) c.2988C>G (p.Gly996=) n.2074C>G c.3132C>G (p.Gly1044=) c.3129C>G (p.Gly1043=) c.2076C>G (p.Gly692=) c.2922C>G (p.Gly974=) c.2442C>G (p.Gly814=) | |
12 | g.47978306G>T | CA479696642 | COL2A1 | c.2781C>A (p.Gly927=) c.2988C>A (p.Gly996=) n.2074C>A c.3132C>A (p.Gly1044=) c.3129C>A (p.Gly1043=) c.2076C>A (p.Gly692=) c.2922C>A (p.Gly974=) c.2442C>A (p.Gly814=) | gnomAD v4 |
12 | g.47978307C>A | CA384541144 | COL2A1 | c.2780G>T (p.Gly927Val) c.2987G>T (p.Gly996Val) n.2073G>T c.3131G>T (p.Gly1044Val) c.3128G>T (p.Gly1043Val) c.2075G>T (p.Gly692Val) c.2921G>T (p.Gly974Val) c.2441G>T (p.Gly814Val) | |
12 | g.47978307C>G | CA384541148 | COL2A1 | c.2780G>C (p.Gly927Ala) c.2987G>C (p.Gly996Ala) n.2073G>C c.3131G>C (p.Gly1044Ala) c.3128G>C (p.Gly1043Ala) c.2075G>C (p.Gly692Ala) c.2921G>C (p.Gly974Ala) c.2441G>C (p.Gly814Ala) | |
12 | g.47978307C>T | CA384541146 | COL2A1 | c.2780G>A (p.Gly927Asp) c.2987G>A (p.Gly996Asp) n.2073G>A c.3131G>A (p.Gly1044Asp) c.3128G>A (p.Gly1043Asp) c.2075G>A (p.Gly692Asp) c.2921G>A (p.Gly974Asp) c.2441G>A (p.Gly814Asp) | |
12 | g.47978308C>A | CA384541151 | COL2A1 | c.2779G>T (p.Gly927Cys) c.2986G>T (p.Gly996Cys) n.2072G>T c.3130G>T (p.Gly1044Cys) c.3127G>T (p.Gly1043Cys) c.2074G>T (p.Gly692Cys) c.2920G>T (p.Gly974Cys) c.2440G>T (p.Gly814Cys) | |
12 | g.47978308C>G | CA384541153 | COL2A1 | c.2779G>C (p.Gly927Arg) c.2986G>C (p.Gly996Arg) n.2072G>C c.3130G>C (p.Gly1044Arg) c.3127G>C (p.Gly1043Arg) c.2074G>C (p.Gly692Arg) c.2920G>C (p.Gly974Arg) c.2440G>C (p.Gly814Arg) | |
12 | g.47978308C>T | CA384541154 | COL2A1 | c.2779G>A (p.Gly927Ser) c.2986G>A (p.Gly996Ser) n.2072G>A c.3130G>A (p.Gly1044Ser) c.3127G>A (p.Gly1043Ser) c.2074G>A (p.Gly692Ser) c.2920G>A (p.Gly974Ser) c.2440G>A (p.Gly814Ser) | |
12 | g.47978309A>C | CA479696645 | COL2A1 | c.2778T>G (p.Pro926=) c.2985T>G (p.Pro995=) n.2071T>G c.3129T>G (p.Pro1043=) c.3126T>G (p.Pro1042=) c.2073T>G (p.Pro691=) c.2919T>G (p.Pro973=) c.2439T>G (p.Pro813=) | |
12 | g.47978309A>G | CA479696646 | COL2A1 | c.2778T>C (p.Pro926=) c.2985T>C (p.Pro995=) n.2071T>C c.3129T>C (p.Pro1043=) c.3126T>C (p.Pro1042=) c.2073T>C (p.Pro691=) c.2919T>C (p.Pro973=) c.2439T>C (p.Pro813=) | gnomAD v4 |
12 | g.47978309A>T | CA479696647 | COL2A1 | c.2778T>A (p.Pro926=) c.2985T>A (p.Pro995=) n.2071T>A c.3129T>A (p.Pro1043=) c.3126T>A (p.Pro1042=) c.2073T>A (p.Pro691=) c.2919T>A (p.Pro973=) c.2439T>A (p.Pro813=) | |
12 | g.47978310G>A | CA384541157 | COL2A1 | c.2777C>T (p.Pro926Leu) c.2984C>T (p.Pro995Leu) n.2070C>T c.3128C>T (p.Pro1043Leu) c.3125C>T (p.Pro1042Leu) c.2072C>T (p.Pro691Leu) c.2918C>T (p.Pro973Leu) c.2438C>T (p.Pro813Leu) | |
12 | g.47978310G>C | CA384541158 | COL2A1 | c.2777C>G (p.Pro926Arg) c.2984C>G (p.Pro995Arg) n.2070C>G c.3128C>G (p.Pro1043Arg) c.3125C>G (p.Pro1042Arg) c.2072C>G (p.Pro691Arg) c.2918C>G (p.Pro973Arg) c.2438C>G (p.Pro813Arg) | |
12 | g.47978310G>T | CA384541161 | COL2A1 | c.2777C>A (p.Pro926His) c.2984C>A (p.Pro995His) n.2070C>A c.3128C>A (p.Pro1043His) c.3125C>A (p.Pro1042His) c.2072C>A (p.Pro691His) c.2918C>A (p.Pro973His) c.2438C>A (p.Pro813His) | |
12 | g.47978312dup | CA2840841088 | COL2A1 | c.2777dup (p.Gly927TrpfsTer8) c.2984dup (p.Gly996TrpfsTer8) n.2070dup c.3128dup (p.Gly1044TrpfsTer8) c.3125dup (p.Gly1043TrpfsTer8) c.2072dup (p.Gly692TrpfsTer8) c.2918dup (p.Gly974TrpfsTer8) c.2438dup (p.Gly814TrpfsTer8) | |
12 | g.47978311G>A | CA384541163 | COL2A1 | c.2776C>T (p.Pro926Ser) c.2983C>T (p.Pro995Ser) n.2069C>T c.3127C>T (p.Pro1043Ser) c.3124C>T (p.Pro1042Ser) c.2071C>T (p.Pro691Ser) c.2917C>T (p.Pro973Ser) c.2437C>T (p.Pro813Ser) | |
12 | g.47978311G>C | CA384541164 | COL2A1 | c.2776C>G (p.Pro926Ala) c.2983C>G (p.Pro995Ala) n.2069C>G c.3127C>G (p.Pro1043Ala) c.3124C>G (p.Pro1042Ala) c.2071C>G (p.Pro691Ala) c.2917C>G (p.Pro973Ala) c.2437C>G (p.Pro813Ala) | |
12 | g.47978311G>T | CA384541166 | COL2A1 | c.2776C>A (p.Pro926Thr) c.2983C>A (p.Pro995Thr) n.2069C>A c.3127C>A (p.Pro1043Thr) c.3124C>A (p.Pro1042Thr) c.2071C>A (p.Pro691Thr) c.2917C>A (p.Pro973Thr) c.2437C>A (p.Pro813Thr) | |
12 | g.47978312G>A | CA6534939 | COL2A1 | c.2775C>T (p.Phe925=) c.2982C>T (p.Phe994=) n.2068C>T c.3126C>T (p.Phe1042=) c.3123C>T (p.Phe1041=) c.2070C>T (p.Phe690=) c.2916C>T (p.Phe972=) c.2436C>T (p.Phe812=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978312G>C | CA384541170 | COL2A1 | c.2775C>G (p.Phe925Leu) c.2982C>G (p.Phe994Leu) n.2068C>G c.3126C>G (p.Phe1042Leu) c.3123C>G (p.Phe1041Leu) c.2070C>G (p.Phe690Leu) c.2916C>G (p.Phe972Leu) c.2436C>G (p.Phe812Leu) | |
12 | g.47978312G= | CA2034476821 | COL2A1 | c.2775C= (p.Phe925=) c.2982C= (p.Phe994=) n.2068C= c.3126C= (p.Phe1042=) c.3123C= (p.Phe1041=) c.2070C= (p.Phe690=) c.2916C= (p.Phe972=) c.2436C= (p.Phe812=) | |
12 | g.47978312G>T | CA384541172 | COL2A1 | c.2775C>A (p.Phe925Leu) c.2982C>A (p.Phe994Leu) n.2068C>A c.3126C>A (p.Phe1042Leu) c.3123C>A (p.Phe1041Leu) c.2070C>A (p.Phe690Leu) c.2916C>A (p.Phe972Leu) c.2436C>A (p.Phe812Leu) | |
12 | g.47978313A= | CA2034476822 | COL2A1 | c.2774T= (p.Phe925=) c.2981T= (p.Phe994=) n.2067T= c.3125T= (p.Phe1042=) c.3122T= (p.Phe1041=) c.2069T= (p.Phe690=) c.2915T= (p.Phe972=) c.2435T= (p.Phe812=) | |
12 | g.47978313A>C | CA384541175 | COL2A1 | c.2774T>G (p.Phe925Cys) c.2981T>G (p.Phe994Cys) n.2067T>G c.3125T>G (p.Phe1042Cys) c.3122T>G (p.Phe1041Cys) c.2069T>G (p.Phe690Cys) c.2915T>G (p.Phe972Cys) c.2435T>G (p.Phe812Cys) | |
12 | g.47978313A>G | CA384541179 | COL2A1 | c.2774T>C (p.Phe925Ser) c.2981T>C (p.Phe994Ser) n.2067T>C c.3125T>C (p.Phe1042Ser) c.3122T>C (p.Phe1041Ser) c.2069T>C (p.Phe690Ser) c.2915T>C (p.Phe972Ser) c.2435T>C (p.Phe812Ser) | |
12 | g.47978313A>T | CA384541177 | COL2A1 | c.2774T>A (p.Phe925Tyr) c.2981T>A (p.Phe994Tyr) n.2067T>A c.3125T>A (p.Phe1042Tyr) c.3122T>A (p.Phe1041Tyr) c.2069T>A (p.Phe690Tyr) c.2915T>A (p.Phe972Tyr) c.2435T>A (p.Phe812Tyr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47978314A= | CA2034476823 | COL2A1 | c.2773T= (p.Phe925=) c.2980T= (p.Phe994=) n.2066T= c.3124T= (p.Phe1042=) c.3121T= (p.Phe1041=) c.2068T= (p.Phe690=) c.2914T= (p.Phe972=) c.2434T= (p.Phe812=) | |
12 | g.47978314A>C | CA384541181 | COL2A1 | c.2773T>G (p.Phe925Val) c.2980T>G (p.Phe994Val) n.2066T>G c.3124T>G (p.Phe1042Val) c.3121T>G (p.Phe1041Val) c.2068T>G (p.Phe690Val) c.2914T>G (p.Phe972Val) c.2434T>G (p.Phe812Val) | |
12 | g.47978314A>G | CA236521734 | COL2A1 | c.2773T>C (p.Phe925Leu) c.2980T>C (p.Phe994Leu) n.2066T>C c.3124T>C (p.Phe1042Leu) c.3121T>C (p.Phe1041Leu) c.2068T>C (p.Phe690Leu) c.2914T>C (p.Phe972Leu) c.2434T>C (p.Phe812Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47978314A>T | CA384541182 | COL2A1 | c.2773T>A (p.Phe925Ile) c.2980T>A (p.Phe994Ile) n.2066T>A c.3124T>A (p.Phe1042Ile) c.3121T>A (p.Phe1041Ile) c.2068T>A (p.Phe690Ile) c.2914T>A (p.Phe972Ile) c.2434T>A (p.Phe812Ile) | |
12 | g.47978315T>A | CA479696648 | COL2A1 | c.2772A>T (p.Gly924=) c.2979A>T (p.Gly993=) n.2065A>T c.3123A>T (p.Gly1041=) c.3120A>T (p.Gly1040=) c.2067A>T (p.Gly689=) c.2913A>T (p.Gly971=) c.2433A>T (p.Gly811=) | COSMIC COSMIC |
12 | g.47978315T>C | CA479696649 | COL2A1 | c.2772A>G (p.Gly924=) c.2979A>G (p.Gly993=) n.2065A>G c.3123A>G (p.Gly1041=) c.3120A>G (p.Gly1040=) c.2067A>G (p.Gly689=) c.2913A>G (p.Gly971=) c.2433A>G (p.Gly811=) | |
12 | g.47978315T>G | CA479696650 | COL2A1 | c.2772A>C (p.Gly924=) c.2979A>C (p.Gly993=) n.2065A>C c.3123A>C (p.Gly1041=) c.3120A>C (p.Gly1040=) c.2067A>C (p.Gly689=) c.2913A>C (p.Gly971=) c.2433A>C (p.Gly811=) | |
12 | g.47978316C>A | CA384541185 | COL2A1 | c.2771G>T (p.Gly924Val) c.2978G>T (p.Gly993Val) n.2064G>T c.3122G>T (p.Gly1041Val) c.3119G>T (p.Gly1040Val) c.2066G>T (p.Gly689Val) c.2912G>T (p.Gly971Val) c.2432G>T (p.Gly811Val) | |
12 | g.47978316C>G | CA384541187 | COL2A1 | c.2771G>C (p.Gly924Ala) c.2978G>C (p.Gly993Ala) n.2064G>C c.3122G>C (p.Gly1041Ala) c.3119G>C (p.Gly1040Ala) c.2066G>C (p.Gly689Ala) c.2912G>C (p.Gly971Ala) c.2432G>C (p.Gly811Ala) | |
12 | g.47978316C>T | CA384541189 | COL2A1 | c.2771G>A (p.Gly924Glu) c.2978G>A (p.Gly993Glu) n.2064G>A c.3122G>A (p.Gly1041Glu) c.3119G>A (p.Gly1040Glu) c.2066G>A (p.Gly689Glu) c.2912G>A (p.Gly971Glu) c.2432G>A (p.Gly811Glu) | |
12 | g.47978317C>A | CA384541192 | COL2A1 | c.2770G>T (p.Gly924Ter) c.2977G>T (p.Gly993Ter) n.2063G>T c.3121G>T (p.Gly1041Ter) c.3118G>T (p.Gly1040Ter) c.2065G>T (p.Gly689Ter) c.2911G>T (p.Gly971Ter) c.2431G>T (p.Gly811Ter) | COSMIC COSMIC |
12 | g.47978317C>G | CA384541194 | COL2A1 | c.2770G>C (p.Gly924Arg) c.2977G>C (p.Gly993Arg) n.2063G>C c.3121G>C (p.Gly1041Arg) c.3118G>C (p.Gly1040Arg) c.2065G>C (p.Gly689Arg) c.2911G>C (p.Gly971Arg) c.2431G>C (p.Gly811Arg) | |
12 | g.47978317C>T | CA384541196 | COL2A1 | c.2770G>A (p.Gly924Arg) c.2977G>A (p.Gly993Arg) n.2063G>A c.3121G>A (p.Gly1041Arg) c.3118G>A (p.Gly1040Arg) c.2065G>A (p.Gly689Arg) c.2911G>A (p.Gly971Arg) c.2431G>A (p.Gly811Arg) | |
12 | g.47978322_47978323del | CA2580615171 | COL2A1 | c.2769_2770del (p.Gly924IlefsTer10) c.2976_2977del (p.Gly993IlefsTer10) n.2062_2063del c.3120_3121del (p.Gly1041IlefsTer10) c.3117_3118del (p.Gly1040IlefsTer10) c.2064_2065del (p.Gly689IlefsTer10) c.2910_2911del (p.Gly971IlefsTer10) c.2430_2431del (p.Gly811IlefsTer10) | ClinVar |
12 | g.47978318T>A | CA384541198 | COL2A1 | c.2769A>T (p.Arg923Ser) c.2976A>T (p.Arg992Ser) n.2062A>T c.3120A>T (p.Arg1040Ser) c.3117A>T (p.Arg1039Ser) c.2064A>T (p.Arg688Ser) c.2910A>T (p.Arg970Ser) c.2430A>T (p.Arg810Ser) | |
12 | g.47978318T>C | CA479696651 | COL2A1 | c.2769A>G (p.Arg923=) c.2976A>G (p.Arg992=) n.2062A>G c.3120A>G (p.Arg1040=) c.3117A>G (p.Arg1039=) c.2064A>G (p.Arg688=) c.2910A>G (p.Arg970=) c.2430A>G (p.Arg810=) | |
12 | g.47978318T>G | CA384541199 | COL2A1 | c.2769A>C (p.Arg923Ser) c.2976A>C (p.Arg992Ser) n.2062A>C c.3120A>C (p.Arg1040Ser) c.3117A>C (p.Arg1039Ser) c.2064A>C (p.Arg688Ser) c.2910A>C (p.Arg970Ser) c.2430A>C (p.Arg810Ser) | |
12 | g.47978319C>A | CA384541202 | COL2A1 | c.2768G>T (p.Arg923Ile) c.2975G>T (p.Arg992Ile) n.2061G>T c.3119G>T (p.Arg1040Ile) c.3116G>T (p.Arg1039Ile) c.2063G>T (p.Arg688Ile) c.2909G>T (p.Arg970Ile) c.2429G>T (p.Arg810Ile) | |
12 | g.47978319C= | CA2034476824 | COL2A1 | c.2768G= (p.Arg923=) c.2975G= (p.Arg992=) n.2061G= c.3119G= (p.Arg1040=) c.3116G= (p.Arg1039=) c.2063G= (p.Arg688=) c.2909G= (p.Arg970=) c.2429G= (p.Arg810=) | |
12 | g.47978319C>G | CA384541204 | COL2A1 | c.2768G>C (p.Arg923Thr) c.2975G>C (p.Arg992Thr) n.2061G>C c.3119G>C (p.Arg1040Thr) c.3116G>C (p.Arg1039Thr) c.2063G>C (p.Arg688Thr) c.2909G>C (p.Arg970Thr) c.2429G>C (p.Arg810Thr) | |
12 | g.47978319C>T | CA384541205 | COL2A1 | c.2768G>A (p.Arg923Lys) c.2975G>A (p.Arg992Lys) n.2061G>A c.3119G>A (p.Arg1040Lys) c.3116G>A (p.Arg1039Lys) c.2063G>A (p.Arg688Lys) c.2909G>A (p.Arg970Lys) c.2429G>A (p.Arg810Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978320T>A | CA384541207 | COL2A1 | c.2767A>T (p.Arg923Ter) c.2974A>T (p.Arg992Ter) n.2060A>T c.3118A>T (p.Arg1040Ter) c.3115A>T (p.Arg1039Ter) c.2062A>T (p.Arg688Ter) c.2908A>T (p.Arg970Ter) c.2428A>T (p.Arg810Ter) | |
12 | g.47978320T>C | CA250688 | COL2A1 | c.2767A>G (p.Arg923Gly) c.2974A>G (p.Arg992Gly) n.2060A>G c.3118A>G (p.Arg1040Gly) c.3115A>G (p.Arg1039Gly) c.2062A>G (p.Arg688Gly) c.2908A>G (p.Arg970Gly) c.2428A>G (p.Arg810Gly) | ClinVar dbSNP |
12 | g.47978320T>G | CA479696652 | COL2A1 | c.2767A>C (p.Arg923=) c.2974A>C (p.Arg992=) n.2060A>C c.3118A>C (p.Arg1040=) c.3115A>C (p.Arg1039=) c.2062A>C (p.Arg688=) c.2908A>C (p.Arg970=) c.2428A>C (p.Arg810=) | |
12 | g.47978320T= | CA2034476825 | COL2A1 | c.2767A= (p.Arg923=) c.2974A= (p.Arg992=) n.2060A= c.3118A= (p.Arg1040=) c.3115A= (p.Arg1039=) c.2062A= (p.Arg688=) c.2908A= (p.Arg970=) c.2428A= (p.Arg810=) | |
12 | g.47978321C>A | CA384541212 | COL2A1 | c.2766G>T (p.Glu922Asp) c.2973G>T (p.Glu991Asp) n.2059G>T c.3117G>T (p.Glu1039Asp) c.3114G>T (p.Glu1038Asp) c.2061G>T (p.Glu687Asp) c.2907G>T (p.Glu969Asp) c.2427G>T (p.Glu809Asp) | |
12 | g.47978321C>G | CA384541214 | COL2A1 | c.2766G>C (p.Glu922Asp) c.2973G>C (p.Glu991Asp) n.2059G>C c.3117G>C (p.Glu1039Asp) c.3114G>C (p.Glu1038Asp) c.2061G>C (p.Glu687Asp) c.2907G>C (p.Glu969Asp) c.2427G>C (p.Glu809Asp) | |
12 | g.47978321C>T | CA479696653 | COL2A1 | c.2766G>A (p.Glu922=) c.2973G>A (p.Glu991=) n.2059G>A c.3117G>A (p.Glu1039=) c.3114G>A (p.Glu1038=) c.2061G>A (p.Glu687=) c.2907G>A (p.Glu969=) c.2427G>A (p.Glu809=) | |
12 | g.47978322T>A | CA384541217 | COL2A1 | c.2765A>T (p.Glu922Val) c.2972A>T (p.Glu991Val) n.2058A>T c.3116A>T (p.Glu1039Val) c.3113A>T (p.Glu1038Val) c.2060A>T (p.Glu687Val) c.2906A>T (p.Glu969Val) c.2426A>T (p.Glu809Val) | |
12 | g.47978322T>C | CA384541218 | COL2A1 | c.2765A>G (p.Glu922Gly) c.2972A>G (p.Glu991Gly) n.2058A>G c.3116A>G (p.Glu1039Gly) c.3113A>G (p.Glu1038Gly) c.2060A>G (p.Glu687Gly) c.2906A>G (p.Glu969Gly) c.2426A>G (p.Glu809Gly) | |
12 | g.47978322T>G | CA384541221 | COL2A1 | c.2765A>C (p.Glu922Ala) c.2972A>C (p.Glu991Ala) n.2058A>C c.3116A>C (p.Glu1039Ala) c.3113A>C (p.Glu1038Ala) c.2060A>C (p.Glu687Ala) c.2906A>C (p.Glu969Ala) c.2426A>C (p.Glu809Ala) | |
12 | g.47978323C>A | CA384541223 | COL2A1 | c.2764G>T (p.Glu922Ter) c.2971G>T (p.Glu991Ter) n.2057G>T c.3115G>T (p.Glu1039Ter) c.3112G>T (p.Glu1038Ter) c.2059G>T (p.Glu687Ter) c.2905G>T (p.Glu969Ter) c.2425G>T (p.Glu809Ter) | |
12 | g.47978323C>G | CA384541225 | COL2A1 | c.2764G>C (p.Glu922Gln) c.2971G>C (p.Glu991Gln) n.2057G>C c.3115G>C (p.Glu1039Gln) c.3112G>C (p.Glu1038Gln) c.2059G>C (p.Glu687Gln) c.2905G>C (p.Glu969Gln) c.2425G>C (p.Glu809Gln) | |
12 | g.47978323C>T | CA384541226 | COL2A1 | c.2764G>A (p.Glu922Lys) c.2971G>A (p.Glu991Lys) n.2057G>A c.3115G>A (p.Glu1039Lys) c.3112G>A (p.Glu1038Lys) c.2059G>A (p.Glu687Lys) c.2905G>A (p.Glu969Lys) c.2425G>A (p.Glu809Lys) | |
12 | g.47978324A>C | CA479696654 | COL2A1 | c.2763T>G (p.Gly921=) c.2970T>G (p.Gly990=) n.2056T>G c.3114T>G (p.Gly1038=) c.3111T>G (p.Gly1037=) c.2058T>G (p.Gly686=) c.2904T>G (p.Gly968=) c.2424T>G (p.Gly808=) | |
12 | g.47978324A>G | CA479696655 | COL2A1 | c.2763T>C (p.Gly921=) c.2970T>C (p.Gly990=) n.2056T>C c.3114T>C (p.Gly1038=) c.3111T>C (p.Gly1037=) c.2058T>C (p.Gly686=) c.2904T>C (p.Gly968=) c.2424T>C (p.Gly808=) | |
12 | g.47978324A>T | CA479696656 | COL2A1 | c.2763T>A (p.Gly921=) c.2970T>A (p.Gly990=) n.2056T>A c.3114T>A (p.Gly1038=) c.3111T>A (p.Gly1037=) c.2058T>A (p.Gly686=) c.2904T>A (p.Gly968=) c.2424T>A (p.Gly808=) | |
12 | g.47978325C>A | CA384541229 | COL2A1 | c.2762G>T (p.Gly921Val) c.2969G>T (p.Gly990Val) n.2055G>T c.3113G>T (p.Gly1038Val) c.3110G>T (p.Gly1037Val) c.2057G>T (p.Gly686Val) c.2903G>T (p.Gly968Val) c.2423G>T (p.Gly808Val) | |
12 | g.47978325C>G | CA384541231 | COL2A1 | c.2762G>C (p.Gly921Ala) c.2969G>C (p.Gly990Ala) n.2055G>C c.3113G>C (p.Gly1038Ala) c.3110G>C (p.Gly1037Ala) c.2057G>C (p.Gly686Ala) c.2903G>C (p.Gly968Ala) c.2423G>C (p.Gly808Ala) | |
12 | g.47978325C>T | CA384541233 | COL2A1 | c.2762G>A (p.Gly921Asp) c.2969G>A (p.Gly990Asp) n.2055G>A c.3113G>A (p.Gly1038Asp) c.3110G>A (p.Gly1037Asp) c.2057G>A (p.Gly686Asp) c.2903G>A (p.Gly968Asp) c.2423G>A (p.Gly808Asp) | |
12 | g.47978326C>A | CA384541239 | COL2A1 | c.2761G>T (p.Gly921Cys) c.2968G>T (p.Gly990Cys) n.2054G>T c.3112G>T (p.Gly1038Cys) c.3109G>T (p.Gly1037Cys) c.2056G>T (p.Gly686Cys) c.2902G>T (p.Gly968Cys) c.2422G>T (p.Gly808Cys) | |
12 | g.47978326C>G | CA384541238 | COL2A1 | c.2761G>C (p.Gly921Arg) c.2968G>C (p.Gly990Arg) n.2054G>C c.3112G>C (p.Gly1038Arg) c.3109G>C (p.Gly1037Arg) c.2056G>C (p.Gly686Arg) c.2902G>C (p.Gly968Arg) c.2422G>C (p.Gly808Arg) | |
12 | g.47978326C>T | CA384541236 | COL2A1 | c.2761G>A (p.Gly921Ser) c.2968G>A (p.Gly990Ser) n.2054G>A c.3112G>A (p.Gly1038Ser) c.3109G>A (p.Gly1037Ser) c.2056G>A (p.Gly686Ser) c.2902G>A (p.Gly968Ser) c.2422G>A (p.Gly808Ser) | |
12 | g.47978327A= | CA2034476826 | COL2A1 | c.2760T= (p.Arg920=) c.2967T= (p.Arg989=) n.2053T= c.3111T= (p.Arg1037=) c.3108T= (p.Arg1036=) c.2055T= (p.Arg685=) c.2901T= (p.Arg967=) c.2421T= (p.Arg807=) | |
12 | g.47978327A>C | CA479696658 | COL2A1 | c.2760T>G (p.Arg920=) c.2967T>G (p.Arg989=) n.2053T>G c.3111T>G (p.Arg1037=) c.3108T>G (p.Arg1036=) c.2055T>G (p.Arg685=) c.2901T>G (p.Arg967=) c.2421T>G (p.Arg807=) | |
12 | g.47978327A>G | CA479696659 | COL2A1 | c.2760T>C (p.Arg920=) c.2967T>C (p.Arg989=) n.2053T>C c.3111T>C (p.Arg1037=) c.3108T>C (p.Arg1036=) c.2055T>C (p.Arg685=) c.2901T>C (p.Arg967=) c.2421T>C (p.Arg807=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47978327A>T | CA479696657 | COL2A1 | c.2760T>A (p.Arg920=) c.2967T>A (p.Arg989=) n.2053T>A c.3111T>A (p.Arg1037=) c.3108T>A (p.Arg1036=) c.2055T>A (p.Arg685=) c.2901T>A (p.Arg967=) c.2421T>A (p.Arg807=) | |
12 | g.47978328C>A | CA384541242 | COL2A1 | c.2759G>T (p.Arg920Leu) c.2966G>T (p.Arg989Leu) n.2052G>T c.3110G>T (p.Arg1037Leu) c.3107G>T (p.Arg1036Leu) c.2054G>T (p.Arg685Leu) c.2900G>T (p.Arg967Leu) c.2420G>T (p.Arg807Leu) | |
12 | g.47978328C= | CA2034476827 | COL2A1 | c.2759G= (p.Arg920=) c.2966G= (p.Arg989=) n.2052G= c.3110G= (p.Arg1037=) c.3107G= (p.Arg1036=) c.2054G= (p.Arg685=) c.2900G= (p.Arg967=) c.2420G= (p.Arg807=) | |
12 | g.47978328C>G | CA384541245 | COL2A1 | c.2759G>C (p.Arg920Pro) c.2966G>C (p.Arg989Pro) n.2052G>C c.3110G>C (p.Arg1037Pro) c.3107G>C (p.Arg1036Pro) c.2054G>C (p.Arg685Pro) c.2900G>C (p.Arg967Pro) c.2420G>C (p.Arg807Pro) | |
12 | g.47978328C>T | CA6534940 | COL2A1 | c.2759G>A (p.Arg920His) c.2966G>A (p.Arg989His) n.2052G>A c.3110G>A (p.Arg1037His) c.3107G>A (p.Arg1036His) c.2054G>A (p.Arg685His) c.2900G>A (p.Arg967His) c.2420G>A (p.Arg807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978329G>A | CA250676 | COL2A1 | c.2758C>T (p.Arg920Cys) c.2965C>T (p.Arg989Cys) n.2051C>T c.3109C>T (p.Arg1037Cys) c.3106C>T (p.Arg1036Cys) c.2053C>T (p.Arg685Cys) c.2899C>T (p.Arg967Cys) c.2419C>T (p.Arg807Cys) | ClinVar dbSNP gnomAD v4 |
12 | g.47978329G>C | CA384541248 | COL2A1 | c.2758C>G (p.Arg920Gly) c.2965C>G (p.Arg989Gly) n.2051C>G c.3109C>G (p.Arg1037Gly) c.3106C>G (p.Arg1036Gly) c.2053C>G (p.Arg685Gly) c.2899C>G (p.Arg967Gly) c.2419C>G (p.Arg807Gly) | |
12 | g.47978329G= | CA2034476828 | COL2A1 | c.2758C= (p.Arg920=) c.2965C= (p.Arg989=) n.2051C= c.3109C= (p.Arg1037=) c.3106C= (p.Arg1036=) c.2053C= (p.Arg685=) c.2899C= (p.Arg967=) c.2419C= (p.Arg807=) | |
12 | g.47978329G>T | CA384541249 | COL2A1 | c.2758C>A (p.Arg920Ser) c.2965C>A (p.Arg989Ser) n.2051C>A c.3109C>A (p.Arg1037Ser) c.3106C>A (p.Arg1036Ser) c.2053C>A (p.Arg685Ser) c.2899C>A (p.Arg967Ser) c.2419C>A (p.Arg807Ser) | |
12 | g.47978330T>A | CA384541250 | COL2A1 | c.2757A>T (p.Gln919His) c.2964A>T (p.Gln988His) n.2050A>T c.3108A>T (p.Gln1036His) c.3105A>T (p.Gln1035His) c.2052A>T (p.Gln684His) c.2898A>T (p.Gln966His) c.2418A>T (p.Gln806His) | |
12 | g.47978330T>C | CA479696660 | COL2A1 | c.2757A>G (p.Gln919=) c.2964A>G (p.Gln988=) n.2050A>G c.3108A>G (p.Gln1036=) c.3105A>G (p.Gln1035=) c.2052A>G (p.Gln684=) c.2898A>G (p.Gln966=) c.2418A>G (p.Gln806=) | ClinVar dbSNP gnomAD v4 |
12 | g.47978330T>G | CA384541251 | COL2A1 | c.2757A>C (p.Gln919His) c.2964A>C (p.Gln988His) n.2050A>C c.3108A>C (p.Gln1036His) c.3105A>C (p.Gln1035His) c.2052A>C (p.Gln684His) c.2898A>C (p.Gln966His) c.2418A>C (p.Gln806His) | |
12 | g.47978331T>A | CA384541254 | COL2A1 | c.2756A>T (p.Gln919Leu) c.2963A>T (p.Gln988Leu) n.2049A>T c.3107A>T (p.Gln1036Leu) c.3104A>T (p.Gln1035Leu) c.2051A>T (p.Gln684Leu) c.2897A>T (p.Gln966Leu) c.2417A>T (p.Gln806Leu) | |
12 | g.47978331T>C | CA384541255 | COL2A1 | c.2756A>G (p.Gln919Arg) c.2963A>G (p.Gln988Arg) n.2049A>G c.3107A>G (p.Gln1036Arg) c.3104A>G (p.Gln1035Arg) c.2051A>G (p.Gln684Arg) c.2897A>G (p.Gln966Arg) c.2417A>G (p.Gln806Arg) | |
12 | g.47978331T>G | CA384541257 | COL2A1 | c.2756A>C (p.Gln919Pro) c.2963A>C (p.Gln988Pro) n.2049A>C c.3107A>C (p.Gln1036Pro) c.3104A>C (p.Gln1035Pro) c.2051A>C (p.Gln684Pro) c.2897A>C (p.Gln966Pro) c.2417A>C (p.Gln806Pro) | |
12 | g.47978332G>A | CA384541260 | COL2A1 | c.2755C>T (p.Gln919Ter) c.2962C>T (p.Gln988Ter) n.2048C>T c.3106C>T (p.Gln1036Ter) c.3103C>T (p.Gln1035Ter) c.2050C>T (p.Gln684Ter) c.2896C>T (p.Gln966Ter) c.2416C>T (p.Gln806Ter) | ClinVar COSMIC COSMIC |
12 | g.47978332G>C | CA384541261 | COL2A1 | c.2755C>G (p.Gln919Glu) c.2962C>G (p.Gln988Glu) n.2048C>G c.3106C>G (p.Gln1036Glu) c.3103C>G (p.Gln1035Glu) c.2050C>G (p.Gln684Glu) c.2896C>G (p.Gln966Glu) c.2416C>G (p.Gln806Glu) | |
12 | g.47978332G>T | CA384541263 | COL2A1 | c.2755C>A (p.Gln919Lys) c.2962C>A (p.Gln988Lys) n.2048C>A c.3106C>A (p.Gln1036Lys) c.3103C>A (p.Gln1035Lys) c.2050C>A (p.Gln684Lys) c.2896C>A (p.Gln966Lys) c.2416C>A (p.Gln806Lys) | gnomAD v4 |
12 | g.47978333C>A | CA479696661 | COL2A1 | c.2754G>T (p.Gly918=) c.2961G>T (p.Gly987=) n.2047G>T c.3105G>T (p.Gly1035=) c.3102G>T (p.Gly1034=) c.2049G>T (p.Gly683=) c.2895G>T (p.Gly965=) c.2415G>T (p.Gly805=) | |
12 | g.47978333C= | CA2034476829 | COL2A1 | c.2754G= (p.Gly918=) c.2961G= (p.Gly987=) n.2047G= c.3105G= (p.Gly1035=) c.3102G= (p.Gly1034=) c.2049G= (p.Gly683=) c.2895G= (p.Gly965=) c.2415G= (p.Gly805=) | |
12 | g.47978333C>G | CA479696662 | COL2A1 | c.2754G>C (p.Gly918=) c.2961G>C (p.Gly987=) n.2047G>C c.3105G>C (p.Gly1035=) c.3102G>C (p.Gly1034=) c.2049G>C (p.Gly683=) c.2895G>C (p.Gly965=) c.2415G>C (p.Gly805=) | |
12 | g.47978333C>T | CA6534941 | COL2A1 | c.2754G>A (p.Gly918=) c.2961G>A (p.Gly987=) n.2047G>A c.3105G>A (p.Gly1035=) c.3102G>A (p.Gly1034=) c.2049G>A (p.Gly683=) c.2895G>A (p.Gly965=) c.2415G>A (p.Gly805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978334C>A | CA384541267 | COL2A1 | c.2753G>T (p.Gly918Val) c.2960G>T (p.Gly987Val) n.2046G>T c.3104G>T (p.Gly1035Val) c.3101G>T (p.Gly1034Val) c.2048G>T (p.Gly683Val) c.2894G>T (p.Gly965Val) c.2414G>T (p.Gly805Val) | |
12 | g.47978334C>G | CA384541271 | COL2A1 | c.2753G>C (p.Gly918Ala) c.2960G>C (p.Gly987Ala) n.2046G>C c.3104G>C (p.Gly1035Ala) c.3101G>C (p.Gly1034Ala) c.2048G>C (p.Gly683Ala) c.2894G>C (p.Gly965Ala) c.2414G>C (p.Gly805Ala) | |
12 | g.47978334C>T | CA384541269 | COL2A1 | c.2753G>A (p.Gly918Glu) c.2960G>A (p.Gly987Glu) n.2046G>A c.3104G>A (p.Gly1035Glu) c.3101G>A (p.Gly1034Glu) c.2048G>A (p.Gly683Glu) c.2894G>A (p.Gly965Glu) c.2414G>A (p.Gly805Glu) | |
12 | g.47978335C>A | CA384541273 | COL2A1 | c.2752G>T (p.Gly918Trp) c.2959G>T (p.Gly987Trp) n.2045G>T c.3103G>T (p.Gly1035Trp) c.3100G>T (p.Gly1034Trp) c.2047G>T (p.Gly683Trp) c.2893G>T (p.Gly965Trp) c.2413G>T (p.Gly805Trp) | |
12 | g.47978335C>G | CA384541275 | COL2A1 | c.2752G>C (p.Gly918Arg) c.2959G>C (p.Gly987Arg) n.2045G>C c.3103G>C (p.Gly1035Arg) c.3100G>C (p.Gly1034Arg) c.2047G>C (p.Gly683Arg) c.2893G>C (p.Gly965Arg) c.2413G>C (p.Gly805Arg) | |
12 | g.47978335C>T | CA384541277 | COL2A1 | c.2752G>A (p.Gly918Arg) c.2959G>A (p.Gly987Arg) n.2045G>A c.3103G>A (p.Gly1035Arg) c.3100G>A (p.Gly1034Arg) c.2047G>A (p.Gly683Arg) c.2893G>A (p.Gly965Arg) c.2413G>A (p.Gly805Arg) | |
12 | g.47978336A>C | CA479696663 | COL2A1 | c.2751T>G (p.Pro917=) c.2958T>G (p.Pro986=) n.2044T>G c.3102T>G (p.Pro1034=) c.3099T>G (p.Pro1033=) c.2046T>G (p.Pro682=) c.2892T>G (p.Pro964=) c.2412T>G (p.Pro804=) | |
12 | g.47978336A>G | CA479696664 | COL2A1 | c.2751T>C (p.Pro917=) c.2958T>C (p.Pro986=) n.2044T>C c.3102T>C (p.Pro1034=) c.3099T>C (p.Pro1033=) c.2046T>C (p.Pro682=) c.2892T>C (p.Pro964=) c.2412T>C (p.Pro804=) | |
12 | g.47978336A>T | CA479696665 | COL2A1 | c.2751T>A (p.Pro917=) c.2958T>A (p.Pro986=) n.2044T>A c.3102T>A (p.Pro1034=) c.3099T>A (p.Pro1033=) c.2046T>A (p.Pro682=) c.2892T>A (p.Pro964=) c.2412T>A (p.Pro804=) | |
12 | g.47978337G>A | CA384541280 | COL2A1 | c.2750C>T (p.Pro917Leu) c.2957C>T (p.Pro986Leu) n.2043C>T c.3101C>T (p.Pro1034Leu) c.3098C>T (p.Pro1033Leu) c.2045C>T (p.Pro682Leu) c.2891C>T (p.Pro964Leu) c.2411C>T (p.Pro804Leu) | |
12 | g.47978337G>C | CA384541282 | COL2A1 | c.2750C>G (p.Pro917Arg) c.2957C>G (p.Pro986Arg) n.2043C>G c.3101C>G (p.Pro1034Arg) c.3098C>G (p.Pro1033Arg) c.2045C>G (p.Pro682Arg) c.2891C>G (p.Pro964Arg) c.2411C>G (p.Pro804Arg) | |
12 | g.47978337G>T | CA384541284 | COL2A1 | c.2750C>A (p.Pro917His) c.2957C>A (p.Pro986His) n.2043C>A c.3101C>A (p.Pro1034His) c.3098C>A (p.Pro1033His) c.2045C>A (p.Pro682His) c.2891C>A (p.Pro964His) c.2411C>A (p.Pro804His) | |
12 | g.47978338G>A | CA384541286 | COL2A1 | c.2749C>T (p.Pro917Ser) c.2956C>T (p.Pro986Ser) n.2042C>T c.3100C>T (p.Pro1034Ser) c.3097C>T (p.Pro1033Ser) c.2044C>T (p.Pro682Ser) c.2890C>T (p.Pro964Ser) c.2410C>T (p.Pro804Ser) | |
12 | g.47978338G>C | CA384541288 | COL2A1 | c.2749C>G (p.Pro917Ala) c.2956C>G (p.Pro986Ala) n.2042C>G c.3100C>G (p.Pro1034Ala) c.3097C>G (p.Pro1033Ala) c.2044C>G (p.Pro682Ala) c.2890C>G (p.Pro964Ala) c.2410C>G (p.Pro804Ala) | |
12 | g.47978338G>T | CA384541290 | COL2A1 | c.2749C>A (p.Pro917Thr) c.2956C>A (p.Pro986Thr) n.2042C>A c.3100C>A (p.Pro1034Thr) c.3097C>A (p.Pro1033Thr) c.2044C>A (p.Pro682Thr) c.2890C>A (p.Pro964Thr) c.2410C>A (p.Pro804Thr) | |
12 | g.47978339C>A | CA479696666 | COL2A1 | c.2748G>T (p.Leu916=) c.2955G>T (p.Leu985=) n.2041G>T c.3099G>T (p.Leu1033=) c.3096G>T (p.Leu1032=) c.2043G>T (p.Leu681=) c.2889G>T (p.Leu963=) c.2409G>T (p.Leu803=) | |
12 | g.47978339C= | CA2034476830 | COL2A1 | c.2748G= (p.Leu916=) c.2955G= (p.Leu985=) n.2041G= c.3099G= (p.Leu1033=) c.3096G= (p.Leu1032=) c.2043G= (p.Leu681=) c.2889G= (p.Leu963=) c.2409G= (p.Leu803=) | |
12 | g.47978339C>G | CA479696667 | COL2A1 | c.2748G>C (p.Leu916=) c.2955G>C (p.Leu985=) n.2041G>C c.3099G>C (p.Leu1033=) c.3096G>C (p.Leu1032=) c.2043G>C (p.Leu681=) c.2889G>C (p.Leu963=) c.2409G>C (p.Leu803=) | |
12 | g.47978339C>T | CA6534942 | COL2A1 | c.2748G>A (p.Leu916=) c.2955G>A (p.Leu985=) n.2041G>A c.3099G>A (p.Leu1033=) c.3096G>A (p.Leu1032=) c.2043G>A (p.Leu681=) c.2889G>A (p.Leu963=) c.2409G>A (p.Leu803=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978340A>C | CA384541295 | COL2A1 | c.2747T>G (p.Leu916Arg) c.2954T>G (p.Leu985Arg) n.2040T>G c.3098T>G (p.Leu1033Arg) c.3095T>G (p.Leu1032Arg) c.2042T>G (p.Leu681Arg) c.2888T>G (p.Leu963Arg) c.2408T>G (p.Leu803Arg) | gnomAD v3 |
12 | g.47978340A>G | CA384541298 | COL2A1 | c.2747T>C (p.Leu916Pro) c.2954T>C (p.Leu985Pro) n.2040T>C c.3098T>C (p.Leu1033Pro) c.3095T>C (p.Leu1032Pro) c.2042T>C (p.Leu681Pro) c.2888T>C (p.Leu963Pro) c.2408T>C (p.Leu803Pro) | |
12 | g.47978340A>T | CA384541294 | COL2A1 | c.2747T>A (p.Leu916Gln) c.2954T>A (p.Leu985Gln) n.2040T>A c.3098T>A (p.Leu1033Gln) c.3095T>A (p.Leu1032Gln) c.2042T>A (p.Leu681Gln) c.2888T>A (p.Leu963Gln) c.2408T>A (p.Leu803Gln) | |
12 | g.47978341G>A | CA479696668 | COL2A1 | c.2746C>T (p.Leu916=) c.2953C>T (p.Leu985=) n.2039C>T c.3097C>T (p.Leu1033=) c.3094C>T (p.Leu1032=) c.2041C>T (p.Leu681=) c.2887C>T (p.Leu963=) c.2407C>T (p.Leu803=) | gnomAD v4 |
12 | g.47978341G>C | CA384541300 | COL2A1 | c.2746C>G (p.Leu916Val) c.2953C>G (p.Leu985Val) n.2039C>G c.3097C>G (p.Leu1033Val) c.3094C>G (p.Leu1032Val) c.2041C>G (p.Leu681Val) c.2887C>G (p.Leu963Val) c.2407C>G (p.Leu803Val) | |
12 | g.47978341G>T | CA384541302 | COL2A1 | c.2746C>A (p.Leu916Met) c.2953C>A (p.Leu985Met) n.2039C>A c.3097C>A (p.Leu1033Met) c.3094C>A (p.Leu1032Met) c.2041C>A (p.Leu681Met) c.2887C>A (p.Leu963Met) c.2407C>A (p.Leu803Met) | |
12 | g.47978342A= | CA2034476831 | COL2A1 | c.2745T= (p.Gly915=) c.2952T= (p.Gly984=) n.2038T= c.3096T= (p.Gly1032=) c.3093T= (p.Gly1031=) c.2040T= (p.Gly680=) c.2886T= (p.Gly962=) c.2406T= (p.Gly802=) | |
12 | g.47978342A>C | CA479696669 | COL2A1 | c.2745T>G (p.Gly915=) c.2952T>G (p.Gly984=) n.2038T>G c.3096T>G (p.Gly1032=) c.3093T>G (p.Gly1031=) c.2040T>G (p.Gly680=) c.2886T>G (p.Gly962=) c.2406T>G (p.Gly802=) | |
12 | g.47978342A>G | CA479696670 | COL2A1 | c.2745T>C (p.Gly915=) c.2952T>C (p.Gly984=) n.2038T>C c.3096T>C (p.Gly1032=) c.3093T>C (p.Gly1031=) c.2040T>C (p.Gly680=) c.2886T>C (p.Gly962=) c.2406T>C (p.Gly802=) | dbSNP |
12 | g.47978342A>T | CA479696671 | COL2A1 | c.2745T>A (p.Gly915=) c.2952T>A (p.Gly984=) n.2038T>A c.3096T>A (p.Gly1032=) c.3093T>A (p.Gly1031=) c.2040T>A (p.Gly680=) c.2886T>A (p.Gly962=) c.2406T>A (p.Gly802=) | |
12 | g.47978343C>A | CA384541305 | COL2A1 | c.2744G>T (p.Gly915Val) c.2951G>T (p.Gly984Val) n.2037G>T c.3095G>T (p.Gly1032Val) c.3092G>T (p.Gly1031Val) c.2039G>T (p.Gly680Val) c.2885G>T (p.Gly962Val) c.2405G>T (p.Gly802Val) | |
12 | g.47978343C>G | CA384541307 | COL2A1 | c.2744G>C (p.Gly915Ala) c.2951G>C (p.Gly984Ala) n.2037G>C c.3095G>C (p.Gly1032Ala) c.3092G>C (p.Gly1031Ala) c.2039G>C (p.Gly680Ala) c.2885G>C (p.Gly962Ala) c.2405G>C (p.Gly802Ala) | |
12 | g.47978343C>T | CA384541309 | COL2A1 | c.2744G>A (p.Gly915Asp) c.2951G>A (p.Gly984Asp) n.2037G>A c.3095G>A (p.Gly1032Asp) c.3092G>A (p.Gly1031Asp) c.2039G>A (p.Gly680Asp) c.2885G>A (p.Gly962Asp) c.2405G>A (p.Gly802Asp) | ClinVar |
12 | g.47978344C>A | CA384541311 | COL2A1 | c.2743G>T (p.Gly915Cys) c.2950G>T (p.Gly984Cys) n.2036G>T c.3094G>T (p.Gly1032Cys) c.3091G>T (p.Gly1031Cys) c.2038G>T (p.Gly680Cys) c.2884G>T (p.Gly962Cys) c.2404G>T (p.Gly802Cys) | COSMIC COSMIC |
12 | g.47978344C>G | CA384541312 | COL2A1 | c.2743G>C (p.Gly915Arg) c.2950G>C (p.Gly984Arg) n.2036G>C c.3094G>C (p.Gly1032Arg) c.3091G>C (p.Gly1031Arg) c.2038G>C (p.Gly680Arg) c.2884G>C (p.Gly962Arg) c.2404G>C (p.Gly802Arg) | ClinVar dbSNP |
12 | g.47978344C>T | CA384541314 | COL2A1 | c.2743G>A (p.Gly915Ser) c.2950G>A (p.Gly984Ser) n.2036G>A c.3094G>A (p.Gly1032Ser) c.3091G>A (p.Gly1031Ser) c.2038G>A (p.Gly680Ser) c.2884G>A (p.Gly962Ser) c.2404G>A (p.Gly802Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47978347_47978349del | CA1139771040 | COL2A1 | c.2741_2743del (p.Val914del) c.2948_2950del (p.Val983del) n.2034_2036del c.3092_3094del (p.Val1031del) c.3089_3091del (p.Val1030del) c.2036_2038del (p.Val679del) c.2882_2884del (p.Val961del) c.2402_2404del (p.Val801del) | |
12 | g.47978345G>A | CA6534943 | COL2A1 | c.2742C>T (p.Val914=) c.2949C>T (p.Val983=) n.2035C>T c.3093C>T (p.Val1031=) c.3090C>T (p.Val1030=) c.2037C>T (p.Val679=) c.2883C>T (p.Val961=) c.2403C>T (p.Val801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978345G>C | CA479696672 | COL2A1 | c.2742C>G (p.Val914=) c.2949C>G (p.Val983=) n.2035C>G c.3093C>G (p.Val1031=) c.3090C>G (p.Val1030=) c.2037C>G (p.Val679=) c.2883C>G (p.Val961=) c.2403C>G (p.Val801=) | |
12 | g.47978345G= | CA2034476832 | COL2A1 | c.2742C= (p.Val914=) c.2949C= (p.Val983=) n.2035C= c.3093C= (p.Val1031=) c.3090C= (p.Val1030=) c.2037C= (p.Val679=) c.2883C= (p.Val961=) c.2403C= (p.Val801=) | |
12 | g.47978345G>T | CA479696673 | COL2A1 | c.2742C>A (p.Val914=) c.2949C>A (p.Val983=) n.2035C>A c.3093C>A (p.Val1031=) c.3090C>A (p.Val1030=) c.2037C>A (p.Val679=) c.2883C>A (p.Val961=) c.2403C>A (p.Val801=) | |
12 | g.47978346A= | CA2034476833 | COL2A1 | c.2741T= (p.Val914=) c.2948T= (p.Val983=) n.2034T= c.3092T= (p.Val1031=) c.3089T= (p.Val1030=) c.2036T= (p.Val679=) c.2882T= (p.Val961=) c.2402T= (p.Val801=) | |
12 | g.47978346A>C | CA384541322 | COL2A1 | c.2741T>G (p.Val914Gly) c.2948T>G (p.Val983Gly) n.2034T>G c.3092T>G (p.Val1031Gly) c.3089T>G (p.Val1030Gly) c.2036T>G (p.Val679Gly) c.2882T>G (p.Val961Gly) c.2402T>G (p.Val801Gly) | |
12 | g.47978346A>G | CA384541325 | COL2A1 | c.2741T>C (p.Val914Ala) c.2948T>C (p.Val983Ala) n.2034T>C c.3092T>C (p.Val1031Ala) c.3089T>C (p.Val1030Ala) c.2036T>C (p.Val679Ala) c.2882T>C (p.Val961Ala) c.2402T>C (p.Val801Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47978346A>T | CA384541327 | COL2A1 | c.2741T>A (p.Val914Asp) c.2948T>A (p.Val983Asp) n.2034T>A c.3092T>A (p.Val1031Asp) c.3089T>A (p.Val1030Asp) c.2036T>A (p.Val679Asp) c.2882T>A (p.Val961Asp) c.2402T>A (p.Val801Asp) | |
12 | g.47978346_47978347dup | CA2580085521 | COL2A1 | c.2740_2741dup (p.Gly915SerfsTer?) c.2947_2948dup (p.Gly984SerfsTer?) n.2033_2034dup c.3091_3092dup (p.Gly1032SerfsTer?) c.3088_3089dup (p.Gly1031SerfsTer?) c.2035_2036dup (p.Gly680SerfsTer?) c.2881_2882dup (p.Gly962SerfsTer?) c.2401_2402dup (p.Gly802SerfsTer?) | ClinVar |
12 | g.47978347C>A | CA384541329 | COL2A1 | c.2740G>T (p.Val914Phe) c.2947G>T (p.Val983Phe) n.2033G>T c.3091G>T (p.Val1031Phe) c.3088G>T (p.Val1030Phe) c.2035G>T (p.Val679Phe) c.2881G>T (p.Val961Phe) c.2401G>T (p.Val801Phe) | |
12 | g.47978347C= | CA2034476834 | COL2A1 | c.2740G= (p.Val914=) c.2947G= (p.Val983=) n.2033G= c.3091G= (p.Val1031=) c.3088G= (p.Val1030=) c.2035G= (p.Val679=) c.2881G= (p.Val961=) c.2401G= (p.Val801=) | |
12 | g.47978347C>G | CA384541332 | COL2A1 | c.2740G>C (p.Val914Leu) c.2947G>C (p.Val983Leu) n.2033G>C c.3091G>C (p.Val1031Leu) c.3088G>C (p.Val1030Leu) c.2035G>C (p.Val679Leu) c.2881G>C (p.Val961Leu) c.2401G>C (p.Val801Leu) | |
12 | g.47978347C>T | CA6534944 | COL2A1 | c.2740G>A (p.Val914Ile) c.2947G>A (p.Val983Ile) n.2033G>A c.3091G>A (p.Val1031Ile) c.3088G>A (p.Val1030Ile) c.2035G>A (p.Val679Ile) c.2881G>A (p.Val961Ile) c.2401G>A (p.Val801Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47978348G>A | CA6534945 | COL2A1 | c.2739C>T (p.Ile913=) c.2946C>T (p.Ile982=) n.2032C>T c.3090C>T (p.Ile1030=) c.3087C>T (p.Ile1029=) c.2034C>T (p.Ile678=) c.2880C>T (p.Ile960=) c.2400C>T (p.Ile800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47978348G>C | CA384541335 | COL2A1 | c.2739C>G (p.Ile913Met) c.2946C>G (p.Ile982Met) n.2032C>G c.3090C>G (p.Ile1030Met) c.3087C>G (p.Ile1029Met) c.2034C>G (p.Ile678Met) c.2880C>G (p.Ile960Met) c.2400C>G (p.Ile800Met) | ClinVar dbSNP |
12 | g.47978348G= | CA2034476835 | COL2A1 | c.2739C= (p.Ile913=) c.2946C= (p.Ile982=) n.2032C= c.3090C= (p.Ile1030=) c.3087C= (p.Ile1029=) c.2034C= (p.Ile678=) c.2880C= (p.Ile960=) c.2400C= (p.Ile800=) | |
12 | g.47978348G>T | CA479696675 | COL2A1 | c.2739C>A (p.Ile913=) c.2946C>A (p.Ile982=) n.2032C>A c.3090C>A (p.Ile1030=) c.3087C>A (p.Ile1029=) c.2034C>A (p.Ile678=) c.2880C>A (p.Ile960=) c.2400C>A (p.Ile800=) | |
12 | g.47978349A>C | CA384541336 | COL2A1 | c.2738T>G (p.Ile913Ser) c.2945T>G (p.Ile982Ser) n.2031T>G c.3089T>G (p.Ile1030Ser) c.3086T>G (p.Ile1029Ser) c.2033T>G (p.Ile678Ser) c.2879T>G (p.Ile960Ser) c.2399T>G (p.Ile800Ser) | |
12 | g.47978349A>G | CA384541337 | COL2A1 | c.2738T>C (p.Ile913Thr) c.2945T>C (p.Ile982Thr) n.2031T>C c.3089T>C (p.Ile1030Thr) c.3086T>C (p.Ile1029Thr) c.2033T>C (p.Ile678Thr) c.2879T>C (p.Ile960Thr) c.2399T>C (p.Ile800Thr) | |
12 | g.47978349A>T | CA384541338 | COL2A1 | c.2738T>A (p.Ile913Asn) c.2945T>A (p.Ile982Asn) n.2031T>A c.3089T>A (p.Ile1030Asn) c.3086T>A (p.Ile1029Asn) c.2033T>A (p.Ile678Asn) c.2879T>A (p.Ile960Asn) c.2399T>A (p.Ile800Asn) | |
12 | g.47978350T>A | CA384541344 | COL2A1 | c.2737A>T (p.Ile913Phe) c.2944A>T (p.Ile982Phe) n.2030A>T c.3088A>T (p.Ile1030Phe) c.3085A>T (p.Ile1029Phe) c.2032A>T (p.Ile678Phe) c.2878A>T (p.Ile960Phe) c.2398A>T (p.Ile800Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978350T>C | CA384541342 | COL2A1 | c.2737A>G (p.Ile913Val) c.2944A>G (p.Ile982Val) n.2030A>G c.3088A>G (p.Ile1030Val) c.3085A>G (p.Ile1029Val) c.2032A>G (p.Ile678Val) c.2878A>G (p.Ile960Val) c.2398A>G (p.Ile800Val) | ClinVar dbSNP |
12 | g.47978350T>G | CA384541340 | COL2A1 | c.2737A>C (p.Ile913Leu) c.2944A>C (p.Ile982Leu) n.2030A>C c.3088A>C (p.Ile1030Leu) c.3085A>C (p.Ile1029Leu) c.2032A>C (p.Ile678Leu) c.2878A>C (p.Ile960Leu) c.2398A>C (p.Ile800Leu) | |
12 | g.47978350T= | CA2034476836 | COL2A1 | c.2737A= (p.Ile913=) c.2944A= (p.Ile982=) n.2030A= c.3088A= (p.Ile1030=) c.3085A= (p.Ile1029=) c.2032A= (p.Ile678=) c.2878A= (p.Ile960=) c.2398A= (p.Ile800=) | |
12 | g.47978351G>A | CA6534946 | COL2A1 | c.2736C>T (p.Gly912=) c.2943C>T (p.Gly981=) n.2029C>T c.3087C>T (p.Gly1029=) c.3084C>T (p.Gly1028=) c.2031C>T (p.Gly677=) c.2877C>T (p.Gly959=) c.2397C>T (p.Gly799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978351G>C | CA479696678 | COL2A1 | c.2736C>G (p.Gly912=) c.2943C>G (p.Gly981=) n.2029C>G c.3087C>G (p.Gly1029=) c.3084C>G (p.Gly1028=) c.2031C>G (p.Gly677=) c.2877C>G (p.Gly959=) c.2397C>G (p.Gly799=) | ClinVar dbSNP |
12 | g.47978351G= | CA2034476837 | COL2A1 | c.2736C= (p.Gly912=) c.2943C= (p.Gly981=) n.2029C= c.3087C= (p.Gly1029=) c.3084C= (p.Gly1028=) c.2031C= (p.Gly677=) c.2877C= (p.Gly959=) c.2397C= (p.Gly799=) | |
12 | g.47978351G>T | CA479696679 | COL2A1 | c.2736C>A (p.Gly912=) c.2943C>A (p.Gly981=) n.2029C>A c.3087C>A (p.Gly1029=) c.3084C>A (p.Gly1028=) c.2031C>A (p.Gly677=) c.2877C>A (p.Gly959=) c.2397C>A (p.Gly799=) | |
12 | g.47978352C>A | CA384541347 | COL2A1 | c.2735G>T (p.Gly912Val) c.2942G>T (p.Gly981Val) n.2028G>T c.3086G>T (p.Gly1029Val) c.3083G>T (p.Gly1028Val) c.2030G>T (p.Gly677Val) c.2876G>T (p.Gly959Val) c.2396G>T (p.Gly799Val) | |
12 | g.47978352C= | CA2034476838 | COL2A1 | c.2735G= (p.Gly912=) c.2942G= (p.Gly981=) n.2028G= c.3086G= (p.Gly1029=) c.3083G= (p.Gly1028=) c.2030G= (p.Gly677=) c.2876G= (p.Gly959=) c.2396G= (p.Gly799=) | |
12 | g.47978352C>G | CA384541349 | COL2A1 | c.2735G>C (p.Gly912Ala) c.2942G>C (p.Gly981Ala) n.2028G>C c.3086G>C (p.Gly1029Ala) c.3083G>C (p.Gly1028Ala) c.2030G>C (p.Gly677Ala) c.2876G>C (p.Gly959Ala) c.2396G>C (p.Gly799Ala) | |
12 | g.47978352C>T | CA384541350 | COL2A1 | c.2735G>A (p.Gly912Asp) c.2942G>A (p.Gly981Asp) n.2028G>A c.3086G>A (p.Gly1029Asp) c.3083G>A (p.Gly1028Asp) c.2030G>A (p.Gly677Asp) c.2876G>A (p.Gly959Asp) c.2396G>A (p.Gly799Asp) | dbSNP gnomAD v2 |
12 | g.47978353dup | CA2499221659 | COL2A1 | c.2735dup (p.Ile913HisfsTer10) c.2942dup (p.Ile982HisfsTer10) n.2028dup c.3086dup (p.Ile1030HisfsTer10) c.3083dup (p.Ile1029HisfsTer10) c.2030dup (p.Ile678HisfsTer10) c.2876dup (p.Ile960HisfsTer10) c.2396dup (p.Ile800HisfsTer10) | ClinVar dbSNP |
12 | g.47978353C>A | CA384541352 | COL2A1 | c.2734G>T (p.Gly912Cys) c.2941G>T (p.Gly981Cys) n.2027G>T c.3085G>T (p.Gly1029Cys) c.3082G>T (p.Gly1028Cys) c.2029G>T (p.Gly677Cys) c.2875G>T (p.Gly959Cys) c.2395G>T (p.Gly799Cys) | |
12 | g.47978353C>G | CA384541358 | COL2A1 | c.2734G>C (p.Gly912Arg) c.2941G>C (p.Gly981Arg) n.2027G>C c.3085G>C (p.Gly1029Arg) c.3082G>C (p.Gly1028Arg) c.2029G>C (p.Gly677Arg) c.2875G>C (p.Gly959Arg) c.2395G>C (p.Gly799Arg) | |
12 | g.47978353C>T | CA384541366 | COL2A1 | c.2734G>A (p.Gly912Ser) c.2941G>A (p.Gly981Ser) n.2027G>A c.3085G>A (p.Gly1029Ser) c.3082G>A (p.Gly1028Ser) c.2029G>A (p.Gly677Ser) c.2875G>A (p.Gly959Ser) c.2395G>A (p.Gly799Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.47978357_47978358del | CA645570666 | COL2A1 | c.2733_2734del (p.Gly912HisfsTer10) c.2940_2941del (p.Gly981HisfsTer10) n.2026_2027del c.3084_3085del (p.Gly1029HisfsTer10) c.3081_3082del (p.Gly1028HisfsTer10) c.2028_2029del (p.Gly677HisfsTer10) c.2874_2875del (p.Gly959HisfsTer10) c.2394_2395del (p.Gly799HisfsTer10) | COSMIC COSMIC |