Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47975611_47976075del | CA2573148599 | COL2A1 | c.3294_3401del c.3501_3608del n.2587_2694del n.354_461del c.3645_3752del c.3642_3749del c.2589_2696del c.3435_3542del c.2955_3062del | ClinVar |
12 | g.47975944_47975969dup | CA604848349 | COL2A1 | c.3390+3_3390+28dup c.3597+3_3597+28dup n.2683+3_2683+28dup n.450+3_450+28dup c.3741+3_3741+28dup c.3738+3_3738+28dup c.2685+3_2685+28dup c.3531+3_3531+28dup c.3051+3_3051+28dup | gnomAD v2 gnomAD v4 |
12 | g.47975950T>G | CA2618508035 | COL2A1 | c.3390+13A>C (n.3390+13A>C) c.3597+13A>C (n.3597+13A>C) n.2683+13A>C n.450+13A>C c.3741+13A>C (n.3741+13A>C) c.3738+13A>C (n.3738+13A>C) c.2685+13A>C (n.2685+13A>C) c.3531+13A>C (n.3531+13A>C) c.3051+13A>C (n.3051+13A>C) | gnomAD v4 |
12 | g.47975951_47975959del | CA645570657 | COL2A1 | c.3390+5_3390+13del (n.3390+5_3390+13del) c.3597+5_3597+13del (n.3597+5_3597+13del) n.2683+5_2683+13del n.450+5_450+13del c.3741+5_3741+13del (n.3741+5_3741+13del) c.3738+5_3738+13del (n.3738+5_3738+13del) c.2685+5_2685+13del (n.2685+5_2685+13del) c.3531+5_3531+13del (n.3531+5_3531+13del) c.3051+5_3051+13del (n.3051+5_3051+13del) | COSMIC COSMIC |
12 | g.47975953G>A | CA2618508067 | COL2A1 | c.3390+10C>T (n.3390+10C>T) c.3597+10C>T (n.3597+10C>T) n.2683+10C>T n.450+10C>T c.3741+10C>T (n.3741+10C>T) c.3738+10C>T (n.3738+10C>T) c.2685+10C>T (n.2685+10C>T) c.3531+10C>T (n.3531+10C>T) c.3051+10C>T (n.3051+10C>T) | gnomAD v4 |
12 | g.47975953G>T | CA2618508069 | COL2A1 | c.3390+10C>A (n.3390+10C>A) c.3597+10C>A (n.3597+10C>A) n.2683+10C>A n.450+10C>A c.3741+10C>A (n.3741+10C>A) c.3738+10C>A (n.3738+10C>A) c.2685+10C>A (n.2685+10C>A) c.3531+10C>A (n.3531+10C>A) c.3051+10C>A (n.3051+10C>A) | gnomAD v4 |
12 | g.47975954G>C | CA645570658 | COL2A1 | c.3390+9C>G (n.3390+9C>G) c.3597+9C>G (n.3597+9C>G) n.2683+9C>G n.450+9C>G c.3741+9C>G (n.3741+9C>G) c.3738+9C>G (n.3738+9C>G) c.2685+9C>G (n.2685+9C>G) c.3531+9C>G (n.3531+9C>G) c.3051+9C>G (n.3051+9C>G) | COSMIC COSMIC |
12 | g.47975954G>T | CA2618508073 | COL2A1 | c.3390+9C>A (n.3390+9C>A) c.3597+9C>A (n.3597+9C>A) n.2683+9C>A n.450+9C>A c.3741+9C>A (n.3741+9C>A) c.3738+9C>A (n.3738+9C>A) c.2685+9C>A (n.2685+9C>A) c.3531+9C>A (n.3531+9C>A) c.3051+9C>A (n.3051+9C>A) | gnomAD v4 |
12 | g.47975957A>G | CA2573053661 | COL2A1 | c.3390+6T>C (n.3390+6T>C) c.3597+6T>C (n.3597+6T>C) n.2683+6T>C n.450+6T>C c.3741+6T>C (n.3741+6T>C) c.3738+6T>C (n.3738+6T>C) c.2685+6T>C (n.2685+6T>C) c.3531+6T>C (n.3531+6T>C) c.3051+6T>C (n.3051+6T>C) | ClinVar dbSNP |
12 | g.47975960_47976351delinsTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG | CA2034474748 | COL2A1 | c.3282+163_3390+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA c.3489+163_3597+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA n.2575+163_2683+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA n.342+163_450+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA c.3630+163_3738+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA c.2577+163_2685+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA c.3423+163_3531+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA c.2943+163_3051+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA | |
12 | g.47975961A>C | CA384537246 | COL2A1 | c.3390+2T>G (n.3390+2T>G) c.3597+2T>G (n.3597+2T>G) n.2683+2T>G n.450+2T>G c.3741+2T>G (n.3741+2T>G) c.3738+2T>G (n.3738+2T>G) c.2685+2T>G (n.2685+2T>G) c.3531+2T>G (n.3531+2T>G) c.3051+2T>G (n.3051+2T>G) | |
12 | g.47975961A>G | CA384537247 | COL2A1 | c.3390+2T>C (n.3390+2T>C) c.3597+2T>C (n.3597+2T>C) n.2683+2T>C n.450+2T>C c.3741+2T>C (n.3741+2T>C) c.3738+2T>C (n.3738+2T>C) c.2685+2T>C (n.2685+2T>C) c.3531+2T>C (n.3531+2T>C) c.3051+2T>C (n.3051+2T>C) | |
12 | g.47975961A>T | CA384537248 | COL2A1 | c.3390+2T>A (n.3390+2T>A) c.3597+2T>A (n.3597+2T>A) n.2683+2T>A n.450+2T>A c.3741+2T>A (n.3741+2T>A) c.3738+2T>A (n.3738+2T>A) c.2685+2T>A (n.2685+2T>A) c.3531+2T>A (n.3531+2T>A) c.3051+2T>A (n.3051+2T>A) | |
12 | g.47975961_47976351del | CA281738 | COL2A1 | c.3282+163_3390+2del c.3489+163_3597+2del n.2575+163_2683+2del n.342+163_450+2del c.3633+163_3741+2del c.3630+163_3738+2del c.2577+163_2685+2del c.3423+163_3531+2del c.2943+163_3051+2del | ClinVar dbSNP |
12 | g.47975962C>A | CA384537249 | COL2A1 | c.3390+1G>T (n.3390+1G>T) c.3597+1G>T (n.3597+1G>T) n.2683+1G>T n.450+1G>T c.3741+1G>T (n.3741+1G>T) c.3738+1G>T (n.3738+1G>T) c.2685+1G>T (n.2685+1G>T) c.3531+1G>T (n.3531+1G>T) c.3051+1G>T (n.3051+1G>T) | |
12 | g.47975962C= | CA2034474753 | COL2A1 | c.3390+1G= (n.3390+1G=) c.3597+1G= (n.3597+1G=) n.2683+1G= n.450+1G= c.3741+1G= (n.3741+1G=) c.3738+1G= (n.3738+1G=) c.2685+1G= (n.2685+1G=) c.3531+1G= (n.3531+1G=) c.3051+1G= (n.3051+1G=) | |
12 | g.47975962C>G | CA384537250 | COL2A1 | c.3390+1G>C (n.3390+1G>C) c.3597+1G>C (n.3597+1G>C) n.2683+1G>C n.450+1G>C c.3741+1G>C (n.3741+1G>C) c.3738+1G>C (n.3738+1G>C) c.2685+1G>C (n.2685+1G>C) c.3531+1G>C (n.3531+1G>C) c.3051+1G>C (n.3051+1G>C) | ClinVar dbSNP |
12 | g.47975962C>T | CA384537251 | COL2A1 | c.3390+1G>A (n.3390+1G>A) c.3597+1G>A (n.3597+1G>A) n.2683+1G>A n.450+1G>A c.3741+1G>A (n.3741+1G>A) c.3738+1G>A (n.3738+1G>A) c.2685+1G>A (n.2685+1G>A) c.3531+1G>A (n.3531+1G>A) c.3051+1G>A (n.3051+1G>A) | ClinVar dbSNP |
12 | g.47975963_47976070del | CA281737 | COL2A1 | c.3284_3390+1del c.3491_3597+1del n.2577_2683+1del n.344_450+1del c.3635_3741+1del c.3632_3738+1del c.2579_2685+1del c.3425_3531+1del c.2945_3051+1del | |
12 | g.47975963A>C | CA479451416 | COL2A1 | c.3390T>G (p.Ala1130=) c.3597T>G (p.Ala1199=) n.2683T>G n.450T>G c.3741T>G (p.Ala1247=) c.3738T>G (p.Ala1246=) c.2685T>G (p.Ala895=) c.3531T>G (p.Ala1177=) c.3051T>G (p.Ala1017=) | |
12 | g.47975963A>G | CA479451417 | COL2A1 | c.3390T>C (p.Ala1130=) c.3597T>C (p.Ala1199=) n.2683T>C n.450T>C c.3741T>C (p.Ala1247=) c.3738T>C (p.Ala1246=) c.2685T>C (p.Ala895=) c.3531T>C (p.Ala1177=) c.3051T>C (p.Ala1017=) | |
12 | g.47975963A>T | CA479451418 | COL2A1 | c.3390T>A (p.Ala1130=) c.3597T>A (p.Ala1199=) n.2683T>A n.450T>A c.3741T>A (p.Ala1247=) c.3738T>A (p.Ala1246=) c.2685T>A (p.Ala895=) c.3531T>A (p.Ala1177=) c.3051T>A (p.Ala1017=) | |
12 | g.47975964G>A | CA384537253 | COL2A1 | c.3389C>T (p.Ala1130Val) c.3596C>T (p.Ala1199Val) n.2682C>T n.449C>T c.3740C>T (p.Ala1247Val) c.3737C>T (p.Ala1246Val) c.2684C>T (p.Ala895Val) c.3530C>T (p.Ala1177Val) c.3050C>T (p.Ala1017Val) | |
12 | g.47975964G>C | CA384537254 | COL2A1 | c.3389C>G (p.Ala1130Gly) c.3596C>G (p.Ala1199Gly) n.2682C>G n.449C>G c.3740C>G (p.Ala1247Gly) c.3737C>G (p.Ala1246Gly) c.2684C>G (p.Ala895Gly) c.3530C>G (p.Ala1177Gly) c.3050C>G (p.Ala1017Gly) | |
12 | g.47975964G>T | CA384537252 | COL2A1 | c.3389C>A (p.Ala1130Asp) c.3596C>A (p.Ala1199Asp) n.2682C>A n.449C>A c.3740C>A (p.Ala1247Asp) c.3737C>A (p.Ala1246Asp) c.2684C>A (p.Ala895Asp) c.3530C>A (p.Ala1177Asp) c.3050C>A (p.Ala1017Asp) | |
12 | g.47975964dup | CA2695216623 | COL2A1 | c.3389dup (p.Gly1131TrpfsTer?) c.3596dup (p.Gly1200TrpfsTer?) n.2682dup n.449dup c.3740dup (p.Gly1248TrpfsTer?) c.3737dup (p.Gly1247TrpfsTer?) c.2684dup (p.Gly896TrpfsTer?) c.3530dup (p.Gly1178TrpfsTer?) c.3050dup (p.Gly1018TrpfsTer?) | |
12 | g.47975965C>A | CA384537255 | COL2A1 | c.3388G>T (p.Ala1130Ser) c.3595G>T (p.Ala1199Ser) n.2681G>T n.448G>T c.3739G>T (p.Ala1247Ser) c.3736G>T (p.Ala1246Ser) c.2683G>T (p.Ala895Ser) c.3529G>T (p.Ala1177Ser) c.3049G>T (p.Ala1017Ser) | |
12 | g.47975965C>G | CA384537256 | COL2A1 | c.3388G>C (p.Ala1130Pro) c.3595G>C (p.Ala1199Pro) n.2681G>C n.448G>C c.3739G>C (p.Ala1247Pro) c.3736G>C (p.Ala1246Pro) c.2683G>C (p.Ala895Pro) c.3529G>C (p.Ala1177Pro) c.3049G>C (p.Ala1017Pro) | |
12 | g.47975965C>T | CA384537257 | COL2A1 | c.3388G>A (p.Ala1130Thr) c.3595G>A (p.Ala1199Thr) n.2681G>A n.448G>A c.3739G>A (p.Ala1247Thr) c.3736G>A (p.Ala1246Thr) c.2683G>A (p.Ala895Thr) c.3529G>A (p.Ala1177Thr) c.3049G>A (p.Ala1017Thr) | gnomAD v4 |
12 | g.47975966A>C | CA479451426 | COL2A1 | c.3387T>G (p.Pro1129=) c.3594T>G (p.Pro1198=) n.2680T>G n.447T>G c.3738T>G (p.Pro1246=) c.3735T>G (p.Pro1245=) c.2682T>G (p.Pro894=) c.3528T>G (p.Pro1176=) c.3048T>G (p.Pro1016=) | |
12 | g.47975966A>G | CA479451427 | COL2A1 | c.3387T>C (p.Pro1129=) c.3594T>C (p.Pro1198=) n.2680T>C n.447T>C c.3738T>C (p.Pro1246=) c.3735T>C (p.Pro1245=) c.2682T>C (p.Pro894=) c.3528T>C (p.Pro1176=) c.3048T>C (p.Pro1016=) | |
12 | g.47975966A>T | CA479451428 | COL2A1 | c.3387T>A (p.Pro1129=) c.3594T>A (p.Pro1198=) n.2680T>A n.447T>A c.3738T>A (p.Pro1246=) c.3735T>A (p.Pro1245=) c.2682T>A (p.Pro894=) c.3528T>A (p.Pro1176=) c.3048T>A (p.Pro1016=) | |
12 | g.47975967G>A | CA384537258 | COL2A1 | c.3386C>T (p.Pro1129Leu) c.3593C>T (p.Pro1198Leu) n.2679C>T n.446C>T c.3737C>T (p.Pro1246Leu) c.3734C>T (p.Pro1245Leu) c.2681C>T (p.Pro894Leu) c.3527C>T (p.Pro1176Leu) c.3047C>T (p.Pro1016Leu) | |
12 | g.47975967G>C | CA384537259 | COL2A1 | c.3386C>G (p.Pro1129Arg) c.3593C>G (p.Pro1198Arg) n.2679C>G n.446C>G c.3737C>G (p.Pro1246Arg) c.3734C>G (p.Pro1245Arg) c.2681C>G (p.Pro894Arg) c.3527C>G (p.Pro1176Arg) c.3047C>G (p.Pro1016Arg) | |
12 | g.47975967G>T | CA384537260 | COL2A1 | c.3386C>A (p.Pro1129His) c.3593C>A (p.Pro1198His) n.2679C>A n.446C>A c.3737C>A (p.Pro1246His) c.3734C>A (p.Pro1245His) c.2681C>A (p.Pro894His) c.3527C>A (p.Pro1176His) c.3047C>A (p.Pro1016His) | |
12 | g.47975968G>A | CA384537261 | COL2A1 | c.3385C>T (p.Pro1129Ser) c.3592C>T (p.Pro1198Ser) n.2678C>T n.445C>T c.3736C>T (p.Pro1246Ser) c.3733C>T (p.Pro1245Ser) c.2680C>T (p.Pro894Ser) c.3526C>T (p.Pro1176Ser) c.3046C>T (p.Pro1016Ser) | |
12 | g.47975968G>C | CA384537263 | COL2A1 | c.3385C>G (p.Pro1129Ala) c.3592C>G (p.Pro1198Ala) n.2678C>G n.445C>G c.3736C>G (p.Pro1246Ala) c.3733C>G (p.Pro1245Ala) c.2680C>G (p.Pro894Ala) c.3526C>G (p.Pro1176Ala) c.3046C>G (p.Pro1016Ala) | |
12 | g.47975968G>T | CA384537262 | COL2A1 | c.3385C>A (p.Pro1129Thr) c.3592C>A (p.Pro1198Thr) n.2678C>A n.445C>A c.3736C>A (p.Pro1246Thr) c.3733C>A (p.Pro1245Thr) c.2680C>A (p.Pro894Thr) c.3526C>A (p.Pro1176Thr) c.3046C>A (p.Pro1016Thr) | |
12 | g.47975969G>A | CA236517613 | COL2A1 | c.3384C>T (p.Gly1128=) c.3591C>T (p.Gly1197=) n.2677C>T n.444C>T c.3735C>T (p.Gly1245=) c.3732C>T (p.Gly1244=) c.2679C>T (p.Gly893=) c.3525C>T (p.Gly1175=) c.3045C>T (p.Gly1015=) | ClinVar dbSNP |
12 | g.47975969G>C | CA479451431 | COL2A1 | c.3384C>G (p.Gly1128=) c.3591C>G (p.Gly1197=) n.2677C>G n.444C>G c.3735C>G (p.Gly1245=) c.3732C>G (p.Gly1244=) c.2679C>G (p.Gly893=) c.3525C>G (p.Gly1175=) c.3045C>G (p.Gly1015=) | |
12 | g.47975969G= | CA2034474756 | COL2A1 | c.3384C= (p.Gly1128=) c.3591C= (p.Gly1197=) n.2677C= n.444C= c.3735C= (p.Gly1245=) c.3732C= (p.Gly1244=) c.2679C= (p.Gly893=) c.3525C= (p.Gly1175=) c.3045C= (p.Gly1015=) | |
12 | g.47975969G>T | CA479451430 | COL2A1 | c.3384C>A (p.Gly1128=) c.3591C>A (p.Gly1197=) n.2677C>A n.444C>A c.3735C>A (p.Gly1245=) c.3732C>A (p.Gly1244=) c.2679C>A (p.Gly893=) c.3525C>A (p.Gly1175=) c.3045C>A (p.Gly1015=) | |
12 | g.47975970C>A | CA384537264 | COL2A1 | c.3383G>T (p.Gly1128Val) c.3590G>T (p.Gly1197Val) n.2676G>T n.443G>T c.3734G>T (p.Gly1245Val) c.3731G>T (p.Gly1244Val) c.2678G>T (p.Gly893Val) c.3524G>T (p.Gly1175Val) c.3044G>T (p.Gly1015Val) | |
12 | g.47975970C= | CA2034474764 | COL2A1 | c.3383G= (p.Gly1128=) c.3590G= (p.Gly1197=) n.2676G= n.443G= c.3734G= (p.Gly1245=) c.3731G= (p.Gly1244=) c.2678G= (p.Gly893=) c.3524G= (p.Gly1175=) c.3044G= (p.Gly1015=) | |
12 | g.47975970C>G | CA384537265 | COL2A1 | c.3383G>C (p.Gly1128Ala) c.3590G>C (p.Gly1197Ala) n.2676G>C n.443G>C c.3734G>C (p.Gly1245Ala) c.3731G>C (p.Gly1244Ala) c.2678G>C (p.Gly893Ala) c.3524G>C (p.Gly1175Ala) c.3044G>C (p.Gly1015Ala) | ClinVar dbSNP |
12 | g.47975970C>T | CA384537266 | COL2A1 | c.3383G>A (p.Gly1128Asp) c.3590G>A (p.Gly1197Asp) n.2676G>A n.443G>A c.3734G>A (p.Gly1245Asp) c.3731G>A (p.Gly1244Asp) c.2678G>A (p.Gly893Asp) c.3524G>A (p.Gly1175Asp) c.3044G>A (p.Gly1015Asp) | |
12 | g.47975971C>A | CA384537267 | COL2A1 | c.3382G>T (p.Gly1128Cys) c.3589G>T (p.Gly1197Cys) n.2675G>T n.442G>T c.3733G>T (p.Gly1245Cys) c.3730G>T (p.Gly1244Cys) c.2677G>T (p.Gly893Cys) c.3523G>T (p.Gly1175Cys) c.3043G>T (p.Gly1015Cys) | |
12 | g.47975971C= | CA2034474770 | COL2A1 | c.3382G= (p.Gly1128=) c.3589G= (p.Gly1197=) n.2675G= n.442G= c.3733G= (p.Gly1245=) c.3730G= (p.Gly1244=) c.2677G= (p.Gly893=) c.3523G= (p.Gly1175=) c.3043G= (p.Gly1015=) | |
12 | g.47975971C>G | CA384537268 | COL2A1 | c.3382G>C (p.Gly1128Arg) c.3589G>C (p.Gly1197Arg) n.2675G>C n.442G>C c.3733G>C (p.Gly1245Arg) c.3730G>C (p.Gly1244Arg) c.2677G>C (p.Gly893Arg) c.3523G>C (p.Gly1175Arg) c.3043G>C (p.Gly1015Arg) | ClinVar dbSNP |
12 | g.47975971C>T | CA250671 | COL2A1 | c.3382G>A (p.Gly1128Ser) c.3589G>A (p.Gly1197Ser) n.2675G>A n.442G>A c.3733G>A (p.Gly1245Ser) c.3730G>A (p.Gly1244Ser) c.2677G>A (p.Gly893Ser) c.3523G>A (p.Gly1175Ser) c.3043G>A (p.Gly1015Ser) | ClinVar dbSNP |
12 | g.47975972G>A | CA479451436 | COL2A1 | c.3381C>T (p.Thr1127=) c.3588C>T (p.Thr1196=) n.2674C>T n.441C>T c.3732C>T (p.Thr1244=) c.3729C>T (p.Thr1243=) c.2676C>T (p.Thr892=) c.3522C>T (p.Thr1174=) c.3042C>T (p.Thr1014=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47975972G>C | CA479451437 | COL2A1 | c.3381C>G (p.Thr1127=) c.3588C>G (p.Thr1196=) n.2674C>G n.441C>G c.3732C>G (p.Thr1244=) c.3729C>G (p.Thr1243=) c.2676C>G (p.Thr892=) c.3522C>G (p.Thr1174=) c.3042C>G (p.Thr1014=) | |
12 | g.47975972G= | CA2034474774 | COL2A1 | c.3381C= (p.Thr1127=) c.3588C= (p.Thr1196=) n.2674C= n.441C= c.3732C= (p.Thr1244=) c.3729C= (p.Thr1243=) c.2676C= (p.Thr892=) c.3522C= (p.Thr1174=) c.3042C= (p.Thr1014=) | |
12 | g.47975972G>T | CA479451442 | COL2A1 | c.3381C>A (p.Thr1127=) c.3588C>A (p.Thr1196=) n.2674C>A n.441C>A c.3732C>A (p.Thr1244=) c.3729C>A (p.Thr1243=) c.2676C>A (p.Thr892=) c.3522C>A (p.Thr1174=) c.3042C>A (p.Thr1014=) | gnomAD v4 |
12 | g.47975973G>A | CA6534700 | COL2A1 | c.3380C>T (p.Thr1127Ile) c.3587C>T (p.Thr1196Ile) n.2673C>T n.440C>T c.3731C>T (p.Thr1244Ile) c.3728C>T (p.Thr1243Ile) c.2675C>T (p.Thr892Ile) c.3521C>T (p.Thr1174Ile) c.3041C>T (p.Thr1014Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47975973G>C | CA384537270 | COL2A1 | c.3380C>G (p.Thr1127Ser) c.3587C>G (p.Thr1196Ser) n.2673C>G n.440C>G c.3731C>G (p.Thr1244Ser) c.3728C>G (p.Thr1243Ser) c.2675C>G (p.Thr892Ser) c.3521C>G (p.Thr1174Ser) c.3041C>G (p.Thr1014Ser) | |
12 | g.47975973G= | CA2034474778 | COL2A1 | c.3380C= (p.Thr1127=) c.3587C= (p.Thr1196=) n.2673C= n.440C= c.3731C= (p.Thr1244=) c.3728C= (p.Thr1243=) c.2675C= (p.Thr892=) c.3521C= (p.Thr1174=) c.3041C= (p.Thr1014=) | |
12 | g.47975973G>T | CA384537269 | COL2A1 | c.3380C>A (p.Thr1127Asn) c.3587C>A (p.Thr1196Asn) n.2673C>A n.440C>A c.3731C>A (p.Thr1244Asn) c.3728C>A (p.Thr1243Asn) c.2675C>A (p.Thr892Asn) c.3521C>A (p.Thr1174Asn) c.3041C>A (p.Thr1014Asn) | |
12 | g.47975974T>A | CA384537271 | COL2A1 | c.3379A>T (p.Thr1127Ser) c.3586A>T (p.Thr1196Ser) n.2672A>T n.439A>T c.3730A>T (p.Thr1244Ser) c.3727A>T (p.Thr1243Ser) c.2674A>T (p.Thr892Ser) c.3520A>T (p.Thr1174Ser) c.3040A>T (p.Thr1014Ser) | |
12 | g.47975974T>C | CA384537272 | COL2A1 | c.3379A>G (p.Thr1127Ala) c.3586A>G (p.Thr1196Ala) n.2672A>G n.439A>G c.3730A>G (p.Thr1244Ala) c.3727A>G (p.Thr1243Ala) c.2674A>G (p.Thr892Ala) c.3520A>G (p.Thr1174Ala) c.3040A>G (p.Thr1014Ala) | |
12 | g.47975974T>G | CA384537273 | COL2A1 | c.3379A>C (p.Thr1127Pro) c.3586A>C (p.Thr1196Pro) n.2672A>C n.439A>C c.3730A>C (p.Thr1244Pro) c.3727A>C (p.Thr1243Pro) c.2674A>C (p.Thr892Pro) c.3520A>C (p.Thr1174Pro) c.3040A>C (p.Thr1014Pro) | |
12 | g.47975975T>A | CA384537274 | COL2A1 | c.3378A>T (p.Glu1126Asp) c.3585A>T (p.Glu1195Asp) n.2671A>T n.438A>T c.3729A>T (p.Glu1243Asp) c.3726A>T (p.Glu1242Asp) c.2673A>T (p.Glu891Asp) c.3519A>T (p.Glu1173Asp) c.3039A>T (p.Glu1013Asp) | |
12 | g.47975975T>C | CA479451447 | COL2A1 | c.3378A>G (p.Glu1126=) c.3585A>G (p.Glu1195=) n.2671A>G n.438A>G c.3729A>G (p.Glu1243=) c.3726A>G (p.Glu1242=) c.2673A>G (p.Glu891=) c.3519A>G (p.Glu1173=) c.3039A>G (p.Glu1013=) | ClinVar |
12 | g.47975975T>G | CA384537275 | COL2A1 | c.3378A>C (p.Glu1126Asp) c.3585A>C (p.Glu1195Asp) n.2671A>C n.438A>C c.3729A>C (p.Glu1243Asp) c.3726A>C (p.Glu1242Asp) c.2673A>C (p.Glu891Asp) c.3519A>C (p.Glu1173Asp) c.3039A>C (p.Glu1013Asp) | |
12 | g.47975976T>A | CA384537276 | COL2A1 | c.3377A>T (p.Glu1126Val) c.3584A>T (p.Glu1195Val) n.2670A>T n.437A>T c.3728A>T (p.Glu1243Val) c.3725A>T (p.Glu1242Val) c.2672A>T (p.Glu891Val) c.3518A>T (p.Glu1173Val) c.3038A>T (p.Glu1013Val) | |
12 | g.47975976T>C | CA384537277 | COL2A1 | c.3377A>G (p.Glu1126Gly) c.3584A>G (p.Glu1195Gly) n.2670A>G n.437A>G c.3728A>G (p.Glu1243Gly) c.3725A>G (p.Glu1242Gly) c.2672A>G (p.Glu891Gly) c.3518A>G (p.Glu1173Gly) c.3038A>G (p.Glu1013Gly) | |
12 | g.47975976T>G | CA384537278 | COL2A1 | c.3377A>C (p.Glu1126Ala) c.3584A>C (p.Glu1195Ala) n.2670A>C n.437A>C c.3728A>C (p.Glu1243Ala) c.3725A>C (p.Glu1242Ala) c.2672A>C (p.Glu891Ala) c.3518A>C (p.Glu1173Ala) c.3038A>C (p.Glu1013Ala) | |
12 | g.47975977C>A | CA384537279 | COL2A1 | c.3376G>T (p.Glu1126Ter) c.3583G>T (p.Glu1195Ter) n.2669G>T n.436G>T c.3727G>T (p.Glu1243Ter) c.3724G>T (p.Glu1242Ter) c.2671G>T (p.Glu891Ter) c.3517G>T (p.Glu1173Ter) c.3037G>T (p.Glu1013Ter) | |
12 | g.47975977C= | CA2034474782 | COL2A1 | c.3376G= (p.Glu1126=) c.3583G= (p.Glu1195=) n.2669G= n.436G= c.3727G= (p.Glu1243=) c.3724G= (p.Glu1242=) c.2671G= (p.Glu891=) c.3517G= (p.Glu1173=) c.3037G= (p.Glu1013=) | |
12 | g.47975977C>G | CA384537280 | COL2A1 | c.3376G>C (p.Glu1126Gln) c.3583G>C (p.Glu1195Gln) n.2669G>C n.436G>C c.3727G>C (p.Glu1243Gln) c.3724G>C (p.Glu1242Gln) c.2671G>C (p.Glu891Gln) c.3517G>C (p.Glu1173Gln) c.3037G>C (p.Glu1013Gln) | |
12 | g.47975977C>T | CA384537281 | COL2A1 | c.3376G>A (p.Glu1126Lys) c.3583G>A (p.Glu1195Lys) n.2669G>A n.436G>A c.3727G>A (p.Glu1243Lys) c.3724G>A (p.Glu1242Lys) c.2671G>A (p.Glu891Lys) c.3517G>A (p.Glu1173Lys) c.3037G>A (p.Glu1013Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47975978G>A | CA6534701 | COL2A1 | c.3375C>T (p.Gly1125=) c.3582C>T (p.Gly1194=) n.2668C>T n.435C>T c.3726C>T (p.Gly1242=) c.3723C>T (p.Gly1241=) c.2670C>T (p.Gly890=) c.3516C>T (p.Gly1172=) c.3036C>T (p.Gly1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47975978G>C | CA479451454 | COL2A1 | c.3375C>G (p.Gly1125=) c.3582C>G (p.Gly1194=) n.2668C>G n.435C>G c.3726C>G (p.Gly1242=) c.3723C>G (p.Gly1241=) c.2670C>G (p.Gly890=) c.3516C>G (p.Gly1172=) c.3036C>G (p.Gly1012=) | ClinVar dbSNP |
12 | g.47975978G= | CA2034474786 | COL2A1 | c.3375C= (p.Gly1125=) c.3582C= (p.Gly1194=) n.2668C= n.435C= c.3726C= (p.Gly1242=) c.3723C= (p.Gly1241=) c.2670C= (p.Gly890=) c.3516C= (p.Gly1172=) c.3036C= (p.Gly1012=) | |
12 | g.47975978G>T | CA479451456 | COL2A1 | c.3375C>A (p.Gly1125=) c.3582C>A (p.Gly1194=) n.2668C>A n.435C>A c.3726C>A (p.Gly1242=) c.3723C>A (p.Gly1241=) c.2670C>A (p.Gly890=) c.3516C>A (p.Gly1172=) c.3036C>A (p.Gly1012=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47975979C>A | CA384537284 | COL2A1 | c.3374G>T (p.Gly1125Val) c.3581G>T (p.Gly1194Val) n.2667G>T n.434G>T c.3725G>T (p.Gly1242Val) c.3722G>T (p.Gly1241Val) c.2669G>T (p.Gly890Val) c.3515G>T (p.Gly1172Val) c.3035G>T (p.Gly1012Val) | |
12 | g.47975979C>G | CA384537282 | COL2A1 | c.3374G>C (p.Gly1125Ala) c.3581G>C (p.Gly1194Ala) n.2667G>C n.434G>C c.3725G>C (p.Gly1242Ala) c.3722G>C (p.Gly1241Ala) c.2669G>C (p.Gly890Ala) c.3515G>C (p.Gly1172Ala) c.3035G>C (p.Gly1012Ala) | |
12 | g.47975979C>T | CA384537283 | COL2A1 | c.3374G>A (p.Gly1125Asp) c.3581G>A (p.Gly1194Asp) n.2667G>A n.434G>A c.3725G>A (p.Gly1242Asp) c.3722G>A (p.Gly1241Asp) c.2669G>A (p.Gly890Asp) c.3515G>A (p.Gly1172Asp) c.3035G>A (p.Gly1012Asp) | |
12 | g.47975980C>A | CA384537285 | COL2A1 | c.3373G>T (p.Gly1125Cys) c.3580G>T (p.Gly1194Cys) n.2666G>T n.433G>T c.3724G>T (p.Gly1242Cys) c.3721G>T (p.Gly1241Cys) c.2668G>T (p.Gly890Cys) c.3514G>T (p.Gly1172Cys) c.3034G>T (p.Gly1012Cys) | |
12 | g.47975980C>G | CA384537286 | COL2A1 | c.3373G>C (p.Gly1125Arg) c.3580G>C (p.Gly1194Arg) n.2666G>C n.433G>C c.3724G>C (p.Gly1242Arg) c.3721G>C (p.Gly1241Arg) c.2668G>C (p.Gly890Arg) c.3514G>C (p.Gly1172Arg) c.3034G>C (p.Gly1012Arg) | |
12 | g.47975980C>T | CA384537287 | COL2A1 | c.3373G>A (p.Gly1125Ser) c.3580G>A (p.Gly1194Ser) n.2666G>A n.433G>A c.3724G>A (p.Gly1242Ser) c.3721G>A (p.Gly1241Ser) c.2668G>A (p.Gly890Ser) c.3514G>A (p.Gly1172Ser) c.3034G>A (p.Gly1012Ser) | |
12 | g.47975981T>A | CA479451460 | COL2A1 | c.3372A>T (p.Ser1124=) c.3579A>T (p.Ser1193=) n.2665A>T n.432A>T c.3723A>T (p.Ser1241=) c.3720A>T (p.Ser1240=) c.2667A>T (p.Ser889=) c.3513A>T (p.Ser1171=) c.3033A>T (p.Ser1011=) | |
12 | g.47975981T>C | CA6534702 | COL2A1 | c.3372A>G (p.Ser1124=) c.3579A>G (p.Ser1193=) n.2665A>G n.432A>G c.3723A>G (p.Ser1241=) c.3720A>G (p.Ser1240=) c.2667A>G (p.Ser889=) c.3513A>G (p.Ser1171=) c.3033A>G (p.Ser1011=) | dbSNP ExAC gnomAD v2 |
12 | g.47975981T>G | CA479451463 | COL2A1 | c.3372A>C (p.Ser1124=) c.3579A>C (p.Ser1193=) n.2665A>C n.432A>C c.3723A>C (p.Ser1241=) c.3720A>C (p.Ser1240=) c.2667A>C (p.Ser889=) c.3513A>C (p.Ser1171=) c.3033A>C (p.Ser1011=) | |
12 | g.47975981T= | CA2034474792 | COL2A1 | c.3372A= (p.Ser1124=) c.3579A= (p.Ser1193=) n.2665A= n.432A= c.3723A= (p.Ser1241=) c.3720A= (p.Ser1240=) c.2667A= (p.Ser889=) c.3513A= (p.Ser1171=) c.3033A= (p.Ser1011=) | |
12 | g.47975982G>A | CA6534703 | COL2A1 | c.3371C>T (p.Ser1124Leu) c.3578C>T (p.Ser1193Leu) n.2664C>T n.431C>T c.3722C>T (p.Ser1241Leu) c.3719C>T (p.Ser1240Leu) c.2666C>T (p.Ser889Leu) c.3512C>T (p.Ser1171Leu) c.3032C>T (p.Ser1011Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47975982G>C | CA384537288 | COL2A1 | c.3371C>G (p.Ser1124Ter) c.3578C>G (p.Ser1193Ter) n.2664C>G n.431C>G c.3722C>G (p.Ser1241Ter) c.3719C>G (p.Ser1240Ter) c.2666C>G (p.Ser889Ter) c.3512C>G (p.Ser1171Ter) c.3032C>G (p.Ser1011Ter) | |
12 | g.47975982G= | CA2034474796 | COL2A1 | c.3371C= (p.Ser1124=) c.3578C= (p.Ser1193=) n.2664C= n.431C= c.3722C= (p.Ser1241=) c.3719C= (p.Ser1240=) c.2666C= (p.Ser889=) c.3512C= (p.Ser1171=) c.3032C= (p.Ser1011=) | |
12 | g.47975982G>T | CA384537289 | COL2A1 | c.3371C>A (p.Ser1124Ter) c.3578C>A (p.Ser1193Ter) n.2664C>A n.431C>A c.3722C>A (p.Ser1241Ter) c.3719C>A (p.Ser1240Ter) c.2666C>A (p.Ser889Ter) c.3512C>A (p.Ser1171Ter) c.3032C>A (p.Ser1011Ter) | |
12 | g.47975983A>C | CA384537290 | COL2A1 | c.3370T>G (p.Ser1124Ala) c.3577T>G (p.Ser1193Ala) n.2663T>G n.430T>G c.3721T>G (p.Ser1241Ala) c.3718T>G (p.Ser1240Ala) c.2665T>G (p.Ser889Ala) c.3511T>G (p.Ser1171Ala) c.3031T>G (p.Ser1011Ala) | |
12 | g.47975983A>G | CA384537291 | COL2A1 | c.3370T>C (p.Ser1124Pro) c.3577T>C (p.Ser1193Pro) n.2663T>C n.430T>C c.3721T>C (p.Ser1241Pro) c.3718T>C (p.Ser1240Pro) c.2665T>C (p.Ser889Pro) c.3511T>C (p.Ser1171Pro) c.3031T>C (p.Ser1011Pro) | |
12 | g.47975983A>T | CA384537292 | COL2A1 | c.3370T>A (p.Ser1124Thr) c.3577T>A (p.Ser1193Thr) n.2663T>A n.430T>A c.3721T>A (p.Ser1241Thr) c.3718T>A (p.Ser1240Thr) c.2665T>A (p.Ser889Thr) c.3511T>A (p.Ser1171Thr) c.3031T>A (p.Ser1011Thr) | |
12 | g.47975984T>A | CA479451470 | COL2A1 | c.3369A>T (p.Arg1123=) c.3576A>T (p.Arg1192=) n.2662A>T n.429A>T c.3720A>T (p.Arg1240=) c.3717A>T (p.Arg1239=) c.2664A>T (p.Arg888=) c.3510A>T (p.Arg1170=) c.3030A>T (p.Arg1010=) | |
12 | g.47975984T>C | CA479451471 | COL2A1 | c.3369A>G (p.Arg1123=) c.3576A>G (p.Arg1192=) n.2662A>G n.429A>G c.3720A>G (p.Arg1240=) c.3717A>G (p.Arg1239=) c.2664A>G (p.Arg888=) c.3510A>G (p.Arg1170=) c.3030A>G (p.Arg1010=) | |
12 | g.47975984T>G | CA479451473 | COL2A1 | c.3369A>C (p.Arg1123=) c.3576A>C (p.Arg1192=) n.2662A>C n.429A>C c.3720A>C (p.Arg1240=) c.3717A>C (p.Arg1239=) c.2664A>C (p.Arg888=) c.3510A>C (p.Arg1170=) c.3030A>C (p.Arg1010=) | |
12 | g.47975984_47975986delinsGCA | CA2695216624 | COL2A1 | c.3367_3369delinsTGC (p.Arg1123Cys) c.3574_3576delinsTGC (p.Arg1192Cys) n.2660_2662delinsTGC n.427_429delinsTGC c.3718_3720delinsTGC (p.Arg1240Cys) c.3715_3717delinsTGC (p.Arg1239Cys) c.2662_2664delinsTGC (p.Arg888Cys) c.3508_3510delinsTGC (p.Arg1170Cys) c.3028_3030delinsTGC (p.Arg1010Cys) | |
12 | g.47975985C>A | CA384537294 | COL2A1 | c.3368G>T (p.Arg1123Leu) c.3575G>T (p.Arg1192Leu) n.2661G>T n.428G>T c.3719G>T (p.Arg1240Leu) c.3716G>T (p.Arg1239Leu) c.2663G>T (p.Arg888Leu) c.3509G>T (p.Arg1170Leu) c.3029G>T (p.Arg1010Leu) | gnomAD v4 |
12 | g.47975985C= | CA2034474804 | COL2A1 | c.3368G= (p.Arg1123=) c.3575G= (p.Arg1192=) n.2661G= n.428G= c.3719G= (p.Arg1240=) c.3716G= (p.Arg1239=) c.2663G= (p.Arg888=) c.3509G= (p.Arg1170=) c.3029G= (p.Arg1010=) | |
12 | g.47975985C>G | CA384537293 | COL2A1 | c.3368G>C (p.Arg1123Pro) c.3575G>C (p.Arg1192Pro) n.2661G>C n.428G>C c.3719G>C (p.Arg1240Pro) c.3716G>C (p.Arg1239Pro) c.2663G>C (p.Arg888Pro) c.3509G>C (p.Arg1170Pro) c.3029G>C (p.Arg1010Pro) | |
12 | g.47975985C>T | CA6534704 | COL2A1 | c.3368G>A (p.Arg1123Gln) c.3575G>A (p.Arg1192Gln) n.2661G>A n.428G>A c.3719G>A (p.Arg1240Gln) c.3716G>A (p.Arg1239Gln) c.2663G>A (p.Arg888Gln) c.3509G>A (p.Arg1170Gln) c.3029G>A (p.Arg1010Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47975986G>A | CA10604522 | COL2A1 | c.3367C>T (p.Arg1123Ter) c.3574C>T (p.Arg1192Ter) n.2660C>T n.427C>T c.3718C>T (p.Arg1240Ter) c.3715C>T (p.Arg1239Ter) c.2662C>T (p.Arg888Ter) c.3508C>T (p.Arg1170Ter) c.3028C>T (p.Arg1010Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47975986G>C | CA384537295 | COL2A1 | c.3367C>G (p.Arg1123Gly) c.3574C>G (p.Arg1192Gly) n.2660C>G n.427C>G c.3718C>G (p.Arg1240Gly) c.3715C>G (p.Arg1239Gly) c.2662C>G (p.Arg888Gly) c.3508C>G (p.Arg1170Gly) c.3028C>G (p.Arg1010Gly) | dbSNP |
12 | g.47975986G= | CA2034474810 | COL2A1 | c.3367C= (p.Arg1123=) c.3574C= (p.Arg1192=) n.2660C= n.427C= c.3718C= (p.Arg1240=) c.3715C= (p.Arg1239=) c.2662C= (p.Arg888=) c.3508C= (p.Arg1170=) c.3028C= (p.Arg1010=) | |
12 | g.47975986G>T | CA479451479 | COL2A1 | c.3367C>A (p.Arg1123=) c.3574C>A (p.Arg1192=) n.2660C>A n.427C>A c.3718C>A (p.Arg1240=) c.3715C>A (p.Arg1239=) c.2662C>A (p.Arg888=) c.3508C>A (p.Arg1170=) c.3028C>A (p.Arg1010=) | |
12 | g.47975987T>A | CA479451480 | COL2A1 | c.3366A>T (p.Gly1122=) c.3573A>T (p.Gly1191=) n.2659A>T n.426A>T c.3717A>T (p.Gly1239=) c.3714A>T (p.Gly1238=) c.2661A>T (p.Gly887=) c.3507A>T (p.Gly1169=) c.3027A>T (p.Gly1009=) | |
12 | g.47975987T>C | CA479451481 | COL2A1 | c.3366A>G (p.Gly1122=) c.3573A>G (p.Gly1191=) n.2659A>G n.426A>G c.3717A>G (p.Gly1239=) c.3714A>G (p.Gly1238=) c.2661A>G (p.Gly887=) c.3507A>G (p.Gly1169=) c.3027A>G (p.Gly1009=) | gnomAD v4 |
12 | g.47975987T>G | CA479451482 | COL2A1 | c.3366A>C (p.Gly1122=) c.3573A>C (p.Gly1191=) n.2659A>C n.426A>C c.3717A>C (p.Gly1239=) c.3714A>C (p.Gly1238=) c.2661A>C (p.Gly887=) c.3507A>C (p.Gly1169=) c.3027A>C (p.Gly1009=) | |
12 | g.47975988C>A | CA384537296 | COL2A1 | c.3365G>T (p.Gly1122Val) c.3572G>T (p.Gly1191Val) n.2658G>T n.425G>T c.3716G>T (p.Gly1239Val) c.3713G>T (p.Gly1238Val) c.2660G>T (p.Gly887Val) c.3506G>T (p.Gly1169Val) c.3026G>T (p.Gly1009Val) | |
12 | g.47975988C>G | CA384537297 | COL2A1 | c.3365G>C (p.Gly1122Ala) c.3572G>C (p.Gly1191Ala) n.2658G>C n.425G>C c.3716G>C (p.Gly1239Ala) c.3713G>C (p.Gly1238Ala) c.2660G>C (p.Gly887Ala) c.3506G>C (p.Gly1169Ala) c.3026G>C (p.Gly1009Ala) | |
12 | g.47975988C>T | CA384537298 | COL2A1 | c.3365G>A (p.Gly1122Glu) c.3572G>A (p.Gly1191Glu) n.2658G>A n.425G>A c.3716G>A (p.Gly1239Glu) c.3713G>A (p.Gly1238Glu) c.2660G>A (p.Gly887Glu) c.3506G>A (p.Gly1169Glu) c.3026G>A (p.Gly1009Glu) | |
12 | g.47975989C>A | CA384537301 | COL2A1 | c.3364G>T (p.Gly1122Ter) c.3571G>T (p.Gly1191Ter) n.2657G>T n.424G>T c.3715G>T (p.Gly1239Ter) c.3712G>T (p.Gly1238Ter) c.2659G>T (p.Gly887Ter) c.3505G>T (p.Gly1169Ter) c.3025G>T (p.Gly1009Ter) | |
12 | g.47975989C>G | CA384537300 | COL2A1 | c.3364G>C (p.Gly1122Arg) c.3571G>C (p.Gly1191Arg) n.2657G>C n.424G>C c.3715G>C (p.Gly1239Arg) c.3712G>C (p.Gly1238Arg) c.2659G>C (p.Gly887Arg) c.3505G>C (p.Gly1169Arg) c.3025G>C (p.Gly1009Arg) | |
12 | g.47975989C>T | CA384537299 | COL2A1 | c.3364G>A (p.Gly1122Arg) c.3571G>A (p.Gly1191Arg) n.2657G>A n.424G>A c.3715G>A (p.Gly1239Arg) c.3712G>A (p.Gly1238Arg) c.2659G>A (p.Gly887Arg) c.3505G>A (p.Gly1169Arg) c.3025G>A (p.Gly1009Arg) | |
12 | g.47975990A= | CA2034474819 | COL2A1 | c.3363T= (p.Arg1121=) c.3570T= (p.Arg1190=) n.2656T= n.423T= c.3714T= (p.Arg1238=) c.3711T= (p.Arg1237=) c.2658T= (p.Arg886=) c.3504T= (p.Arg1168=) c.3024T= (p.Arg1008=) | |
12 | g.47975990A>C | CA479451487 | COL2A1 | c.3363T>G (p.Arg1121=) c.3570T>G (p.Arg1190=) n.2656T>G n.423T>G c.3714T>G (p.Arg1238=) c.3711T>G (p.Arg1237=) c.2658T>G (p.Arg886=) c.3504T>G (p.Arg1168=) c.3024T>G (p.Arg1008=) | dbSNP |
12 | g.47975990A>G | CA479451489 | COL2A1 | c.3363T>C (p.Arg1121=) c.3570T>C (p.Arg1190=) n.2656T>C n.423T>C c.3714T>C (p.Arg1238=) c.3711T>C (p.Arg1237=) c.2658T>C (p.Arg886=) c.3504T>C (p.Arg1168=) c.3024T>C (p.Arg1008=) | |
12 | g.47975990A>T | CA479451490 | COL2A1 | c.3363T>A (p.Arg1121=) c.3570T>A (p.Arg1190=) n.2656T>A n.423T>A c.3714T>A (p.Arg1238=) c.3711T>A (p.Arg1237=) c.2658T>A (p.Arg886=) c.3504T>A (p.Arg1168=) c.3024T>A (p.Arg1008=) | |
12 | g.47975991C>A | CA384537302 | COL2A1 | c.3362G>T (p.Arg1121Leu) c.3569G>T (p.Arg1190Leu) n.2655G>T n.422G>T c.3713G>T (p.Arg1238Leu) c.3710G>T (p.Arg1237Leu) c.2657G>T (p.Arg886Leu) c.3503G>T (p.Arg1168Leu) c.3023G>T (p.Arg1008Leu) | dbSNP |
12 | g.47975991C= | CA2034474827 | COL2A1 | c.3362G= (p.Arg1121=) c.3569G= (p.Arg1190=) n.2655G= n.422G= c.3713G= (p.Arg1238=) c.3710G= (p.Arg1237=) c.2657G= (p.Arg886=) c.3503G= (p.Arg1168=) c.3023G= (p.Arg1008=) | |
12 | g.47975991C>G | CA384537303 | COL2A1 | c.3362G>C (p.Arg1121Pro) c.3569G>C (p.Arg1190Pro) n.2655G>C n.422G>C c.3713G>C (p.Arg1238Pro) c.3710G>C (p.Arg1237Pro) c.2657G>C (p.Arg886Pro) c.3503G>C (p.Arg1168Pro) c.3023G>C (p.Arg1008Pro) | |
12 | g.47975991C>T | CA6534705 | COL2A1 | c.3362G>A (p.Arg1121His) c.3569G>A (p.Arg1190His) n.2655G>A n.422G>A c.3713G>A (p.Arg1238His) c.3710G>A (p.Arg1237His) c.2657G>A (p.Arg886His) c.3503G>A (p.Arg1168His) c.3023G>A (p.Arg1008His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47975992G>A | CA384537304 | COL2A1 | c.3361C>T (p.Arg1121Cys) c.3568C>T (p.Arg1190Cys) n.2654C>T n.421C>T c.3712C>T (p.Arg1238Cys) c.3709C>T (p.Arg1237Cys) c.2656C>T (p.Arg886Cys) c.3502C>T (p.Arg1168Cys) c.3022C>T (p.Arg1008Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.47975992G>C | CA384537305 | COL2A1 | c.3361C>G (p.Arg1121Gly) c.3568C>G (p.Arg1190Gly) n.2654C>G n.421C>G c.3712C>G (p.Arg1238Gly) c.3709C>G (p.Arg1237Gly) c.2656C>G (p.Arg886Gly) c.3502C>G (p.Arg1168Gly) c.3022C>G (p.Arg1008Gly) | |
12 | g.47975992G= | CA2034474831 | COL2A1 | c.3361C= (p.Arg1121=) c.3568C= (p.Arg1190=) n.2654C= n.421C= c.3712C= (p.Arg1238=) c.3709C= (p.Arg1237=) c.2656C= (p.Arg886=) c.3502C= (p.Arg1168=) c.3022C= (p.Arg1008=) | |
12 | g.47975992G>T | CA384537306 | COL2A1 | c.3361C>A (p.Arg1121Ser) c.3568C>A (p.Arg1190Ser) n.2654C>A n.421C>A c.3712C>A (p.Arg1238Ser) c.3709C>A (p.Arg1237Ser) c.2656C>A (p.Arg886Ser) c.3502C>A (p.Arg1168Ser) c.3022C>A (p.Arg1008Ser) | |
12 | g.47975993G>A | CA479451498 | COL2A1 | c.3360C>T (p.Pro1120=) c.3567C>T (p.Pro1189=) n.2653C>T n.420C>T c.3711C>T (p.Pro1237=) c.3708C>T (p.Pro1236=) c.2655C>T (p.Pro885=) c.3501C>T (p.Pro1167=) c.3021C>T (p.Pro1007=) | |
12 | g.47975993G>C | CA479451499 | COL2A1 | c.3360C>G (p.Pro1120=) c.3567C>G (p.Pro1189=) n.2653C>G n.420C>G c.3711C>G (p.Pro1237=) c.3708C>G (p.Pro1236=) c.2655C>G (p.Pro885=) c.3501C>G (p.Pro1167=) c.3021C>G (p.Pro1007=) | |
12 | g.47975993G>T | CA479451500 | COL2A1 | c.3360C>A (p.Pro1120=) c.3567C>A (p.Pro1189=) n.2653C>A n.420C>A c.3711C>A (p.Pro1237=) c.3708C>A (p.Pro1236=) c.2655C>A (p.Pro885=) c.3501C>A (p.Pro1167=) c.3021C>A (p.Pro1007=) | |
12 | g.47975994G>A | CA384537307 | COL2A1 | c.3359C>T (p.Pro1120Leu) c.3566C>T (p.Pro1189Leu) n.2652C>T n.419C>T c.3710C>T (p.Pro1237Leu) c.3707C>T (p.Pro1236Leu) c.2654C>T (p.Pro885Leu) c.3500C>T (p.Pro1167Leu) c.3020C>T (p.Pro1007Leu) | |
12 | g.47975994G>C | CA384537308 | COL2A1 | c.3359C>G (p.Pro1120Arg) c.3566C>G (p.Pro1189Arg) n.2652C>G n.419C>G c.3710C>G (p.Pro1237Arg) c.3707C>G (p.Pro1236Arg) c.2654C>G (p.Pro885Arg) c.3500C>G (p.Pro1167Arg) c.3020C>G (p.Pro1007Arg) | |
12 | g.47975994G= | CA2034474836 | COL2A1 | c.3359C= (p.Pro1120=) c.3566C= (p.Pro1189=) n.2652C= n.419C= c.3710C= (p.Pro1237=) c.3707C= (p.Pro1236=) c.2654C= (p.Pro885=) c.3500C= (p.Pro1167=) c.3020C= (p.Pro1007=) | |
12 | g.47975994G>T | CA16606285 | COL2A1 | c.3359C>A (p.Pro1120His) c.3566C>A (p.Pro1189His) n.2652C>A n.419C>A c.3710C>A (p.Pro1237His) c.3707C>A (p.Pro1236His) c.2654C>A (p.Pro885His) c.3500C>A (p.Pro1167His) c.3020C>A (p.Pro1007His) | ClinVar dbSNP gnomAD v4 |
12 | g.47975995G>A | CA6534707 | COL2A1 | c.3358C>T (p.Pro1120Ser) c.3565C>T (p.Pro1189Ser) n.2651C>T n.418C>T c.3709C>T (p.Pro1237Ser) c.3706C>T (p.Pro1236Ser) c.2653C>T (p.Pro885Ser) c.3499C>T (p.Pro1167Ser) c.3019C>T (p.Pro1007Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47975995G>C | CA384537309 | COL2A1 | c.3358C>G (p.Pro1120Ala) c.3565C>G (p.Pro1189Ala) n.2651C>G n.418C>G c.3709C>G (p.Pro1237Ala) c.3706C>G (p.Pro1236Ala) c.2653C>G (p.Pro885Ala) c.3499C>G (p.Pro1167Ala) c.3019C>G (p.Pro1007Ala) | |
12 | g.47975995G= | CA2034474840 | COL2A1 | c.3358C= (p.Pro1120=) c.3565C= (p.Pro1189=) n.2651C= n.418C= c.3709C= (p.Pro1237=) c.3706C= (p.Pro1236=) c.2653C= (p.Pro885=) c.3499C= (p.Pro1167=) c.3019C= (p.Pro1007=) | |
12 | g.47975995G>T | CA6534706 | COL2A1 | c.3358C>A (p.Pro1120Thr) c.3565C>A (p.Pro1189Thr) n.2651C>A n.418C>A c.3709C>A (p.Pro1237Thr) c.3706C>A (p.Pro1236Thr) c.2653C>A (p.Pro885Thr) c.3499C>A (p.Pro1167Thr) c.3019C>A (p.Pro1007Thr) | dbSNP ExAC gnomAD v2 |
12 | g.47975996A>C | CA479451507 | COL2A1 | c.3357T>G (p.Gly1119=) c.3564T>G (p.Gly1188=) n.2650T>G n.417T>G c.3708T>G (p.Gly1236=) c.3705T>G (p.Gly1235=) c.2652T>G (p.Gly884=) c.3498T>G (p.Gly1166=) c.3018T>G (p.Gly1006=) | |
12 | g.47975996A>G | CA479451509 | COL2A1 | c.3357T>C (p.Gly1119=) c.3564T>C (p.Gly1188=) n.2650T>C n.417T>C c.3708T>C (p.Gly1236=) c.3705T>C (p.Gly1235=) c.2652T>C (p.Gly884=) c.3498T>C (p.Gly1166=) c.3018T>C (p.Gly1006=) | |
12 | g.47975996A>T | CA479451510 | COL2A1 | c.3357T>A (p.Gly1119=) c.3564T>A (p.Gly1188=) n.2650T>A n.417T>A c.3708T>A (p.Gly1236=) c.3705T>A (p.Gly1235=) c.2652T>A (p.Gly884=) c.3498T>A (p.Gly1166=) c.3018T>A (p.Gly1006=) | |
12 | g.47975997C>A | CA384537310 | COL2A1 | c.3356G>T (p.Gly1119Val) c.3563G>T (p.Gly1188Val) n.2649G>T n.416G>T c.3707G>T (p.Gly1236Val) c.3704G>T (p.Gly1235Val) c.2651G>T (p.Gly884Val) c.3497G>T (p.Gly1166Val) c.3017G>T (p.Gly1006Val) | |
12 | g.47975997C= | CA2034474846 | COL2A1 | c.3356G= (p.Gly1119=) c.3563G= (p.Gly1188=) n.2649G= n.416G= c.3707G= (p.Gly1236=) c.3704G= (p.Gly1235=) c.2651G= (p.Gly884=) c.3497G= (p.Gly1166=) c.3017G= (p.Gly1006=) | |
12 | g.47975997C>G | CA384537311 | COL2A1 | c.3356G>C (p.Gly1119Ala) c.3563G>C (p.Gly1188Ala) n.2649G>C n.416G>C c.3707G>C (p.Gly1236Ala) c.3704G>C (p.Gly1235Ala) c.2651G>C (p.Gly884Ala) c.3497G>C (p.Gly1166Ala) c.3017G>C (p.Gly1006Ala) | ClinVar dbSNP |
12 | g.47975997C>T | CA384537312 | COL2A1 | c.3356G>A (p.Gly1119Asp) c.3563G>A (p.Gly1188Asp) n.2649G>A n.416G>A c.3707G>A (p.Gly1236Asp) c.3704G>A (p.Gly1235Asp) c.2651G>A (p.Gly884Asp) c.3497G>A (p.Gly1166Asp) c.3017G>A (p.Gly1006Asp) | |
12 | g.47975998C>A | CA384537313 | COL2A1 | c.3355G>T (p.Gly1119Cys) c.3562G>T (p.Gly1188Cys) n.2648G>T n.415G>T c.3706G>T (p.Gly1236Cys) c.3703G>T (p.Gly1235Cys) c.2650G>T (p.Gly884Cys) c.3496G>T (p.Gly1166Cys) c.3016G>T (p.Gly1006Cys) | |
12 | g.47975998C>G | CA384537314 | COL2A1 | c.3355G>C (p.Gly1119Arg) c.3562G>C (p.Gly1188Arg) n.2648G>C n.415G>C c.3706G>C (p.Gly1236Arg) c.3703G>C (p.Gly1235Arg) c.2650G>C (p.Gly884Arg) c.3496G>C (p.Gly1166Arg) c.3016G>C (p.Gly1006Arg) | |
12 | g.47975998C>T | CA384537315 | COL2A1 | c.3355G>A (p.Gly1119Ser) c.3562G>A (p.Gly1188Ser) n.2648G>A n.415G>A c.3706G>A (p.Gly1236Ser) c.3703G>A (p.Gly1235Ser) c.2650G>A (p.Gly884Ser) c.3496G>A (p.Gly1166Ser) c.3016G>A (p.Gly1006Ser) | |
12 | g.47975999A= | CA2034474854 | COL2A1 | c.3354T= (p.Pro1118=) c.3561T= (p.Pro1187=) n.2647T= n.414T= c.3705T= (p.Pro1235=) c.3702T= (p.Pro1234=) c.2649T= (p.Pro883=) c.3495T= (p.Pro1165=) c.3015T= (p.Pro1005=) | |
12 | g.47975999A>C | CA6534708 | COL2A1 | c.3354T>G (p.Pro1118=) c.3561T>G (p.Pro1187=) n.2647T>G n.414T>G c.3705T>G (p.Pro1235=) c.3702T>G (p.Pro1234=) c.2649T>G (p.Pro883=) c.3495T>G (p.Pro1165=) c.3015T>G (p.Pro1005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47975999A>G | CA479451513 | COL2A1 | c.3354T>C (p.Pro1118=) c.3561T>C (p.Pro1187=) n.2647T>C n.414T>C c.3705T>C (p.Pro1235=) c.3702T>C (p.Pro1234=) c.2649T>C (p.Pro883=) c.3495T>C (p.Pro1165=) c.3015T>C (p.Pro1005=) | |
12 | g.47975999A>T | CA479451512 | COL2A1 | c.3354T>A (p.Pro1118=) c.3561T>A (p.Pro1187=) n.2647T>A n.414T>A c.3705T>A (p.Pro1235=) c.3702T>A (p.Pro1234=) c.2649T>A (p.Pro883=) c.3495T>A (p.Pro1165=) c.3015T>A (p.Pro1005=) | |
12 | g.47976000G>A | CA384537318 | COL2A1 | c.3353C>T (p.Pro1118Leu) c.3560C>T (p.Pro1187Leu) n.2646C>T n.413C>T c.3704C>T (p.Pro1235Leu) c.3701C>T (p.Pro1234Leu) c.2648C>T (p.Pro883Leu) c.3494C>T (p.Pro1165Leu) c.3014C>T (p.Pro1005Leu) | |
12 | g.47976000G>C | CA384537317 | COL2A1 | c.3353C>G (p.Pro1118Arg) c.3560C>G (p.Pro1187Arg) n.2646C>G n.413C>G c.3704C>G (p.Pro1235Arg) c.3701C>G (p.Pro1234Arg) c.2648C>G (p.Pro883Arg) c.3494C>G (p.Pro1165Arg) c.3014C>G (p.Pro1005Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.47976000G= | CA2034474859 | COL2A1 | c.3353C= (p.Pro1118=) c.3560C= (p.Pro1187=) n.2646C= n.413C= c.3704C= (p.Pro1235=) c.3701C= (p.Pro1234=) c.2648C= (p.Pro883=) c.3494C= (p.Pro1165=) c.3014C= (p.Pro1005=) | |
12 | g.47976000G>T | CA384537316 | COL2A1 | c.3353C>A (p.Pro1118His) c.3560C>A (p.Pro1187His) n.2646C>A n.413C>A c.3704C>A (p.Pro1235His) c.3701C>A (p.Pro1234His) c.2648C>A (p.Pro883His) c.3494C>A (p.Pro1165His) c.3014C>A (p.Pro1005His) | |
12 | g.47976001G>A | CA384537319 | COL2A1 | c.3352C>T (p.Pro1118Ser) c.3559C>T (p.Pro1187Ser) n.2645C>T n.412C>T c.3703C>T (p.Pro1235Ser) c.3700C>T (p.Pro1234Ser) c.2647C>T (p.Pro883Ser) c.3493C>T (p.Pro1165Ser) c.3013C>T (p.Pro1005Ser) | |
12 | g.47976001G>C | CA384537321 | COL2A1 | c.3352C>G (p.Pro1118Ala) c.3559C>G (p.Pro1187Ala) n.2645C>G n.412C>G c.3703C>G (p.Pro1235Ala) c.3700C>G (p.Pro1234Ala) c.2647C>G (p.Pro883Ala) c.3493C>G (p.Pro1165Ala) c.3013C>G (p.Pro1005Ala) | |
12 | g.47976001G>T | CA384537320 | COL2A1 | c.3352C>A (p.Pro1118Thr) c.3559C>A (p.Pro1187Thr) n.2645C>A n.412C>A c.3703C>A (p.Pro1235Thr) c.3700C>A (p.Pro1234Thr) c.2647C>A (p.Pro883Thr) c.3493C>A (p.Pro1165Thr) c.3013C>A (p.Pro1005Thr) | |
12 | g.47976002A>C | CA479451517 | COL2A1 | c.3351T>G (p.Pro1117=) c.3558T>G (p.Pro1186=) n.2644T>G n.411T>G c.3702T>G (p.Pro1234=) c.3699T>G (p.Pro1233=) c.2646T>G (p.Pro882=) c.3492T>G (p.Pro1164=) c.3012T>G (p.Pro1004=) | |
12 | g.47976002A>G | CA479451518 | COL2A1 | c.3351T>C (p.Pro1117=) c.3558T>C (p.Pro1186=) n.2644T>C n.411T>C c.3702T>C (p.Pro1234=) c.3699T>C (p.Pro1233=) c.2646T>C (p.Pro882=) c.3492T>C (p.Pro1164=) c.3012T>C (p.Pro1004=) | |
12 | g.47976002A>T | CA479451519 | COL2A1 | c.3351T>A (p.Pro1117=) c.3558T>A (p.Pro1186=) n.2644T>A n.411T>A c.3702T>A (p.Pro1234=) c.3699T>A (p.Pro1233=) c.2646T>A (p.Pro882=) c.3492T>A (p.Pro1164=) c.3012T>A (p.Pro1004=) | |
12 | g.47976003G>A | CA384537322 | COL2A1 | c.3350C>T (p.Pro1117Leu) c.3557C>T (p.Pro1186Leu) n.2643C>T n.410C>T c.3701C>T (p.Pro1234Leu) c.3698C>T (p.Pro1233Leu) c.2645C>T (p.Pro882Leu) c.3491C>T (p.Pro1164Leu) c.3011C>T (p.Pro1004Leu) | dbSNP gnomAD v4 |
12 | g.47976003G>C | CA384537323 | COL2A1 | c.3350C>G (p.Pro1117Arg) c.3557C>G (p.Pro1186Arg) n.2643C>G n.410C>G c.3701C>G (p.Pro1234Arg) c.3698C>G (p.Pro1233Arg) c.2645C>G (p.Pro882Arg) c.3491C>G (p.Pro1164Arg) c.3011C>G (p.Pro1004Arg) | |
12 | g.47976003G= | CA2034474863 | COL2A1 | c.3350C= (p.Pro1117=) c.3557C= (p.Pro1186=) n.2643C= n.410C= c.3701C= (p.Pro1234=) c.3698C= (p.Pro1233=) c.2645C= (p.Pro882=) c.3491C= (p.Pro1164=) c.3011C= (p.Pro1004=) | |
12 | g.47976003G>T | CA384537324 | COL2A1 | c.3350C>A (p.Pro1117His) c.3557C>A (p.Pro1186His) n.2643C>A n.410C>A c.3701C>A (p.Pro1234His) c.3698C>A (p.Pro1233His) c.2645C>A (p.Pro882His) c.3491C>A (p.Pro1164His) c.3011C>A (p.Pro1004His) | COSMIC COSMIC |
12 | g.47976004G>A | CA384537325 | COL2A1 | c.3349C>T (p.Pro1117Ser) c.3556C>T (p.Pro1186Ser) n.2642C>T n.409C>T c.3700C>T (p.Pro1234Ser) c.3697C>T (p.Pro1233Ser) c.2644C>T (p.Pro882Ser) c.3490C>T (p.Pro1164Ser) c.3010C>T (p.Pro1004Ser) | gnomAD v4 |
12 | g.47976004G>C | CA384537326 | COL2A1 | c.3349C>G (p.Pro1117Ala) c.3556C>G (p.Pro1186Ala) n.2642C>G n.409C>G c.3700C>G (p.Pro1234Ala) c.3697C>G (p.Pro1233Ala) c.2644C>G (p.Pro882Ala) c.3490C>G (p.Pro1164Ala) c.3010C>G (p.Pro1004Ala) | |
12 | g.47976004G>T | CA384537327 | COL2A1 | c.3349C>A (p.Pro1117Thr) c.3556C>A (p.Pro1186Thr) n.2642C>A n.409C>A c.3700C>A (p.Pro1234Thr) c.3697C>A (p.Pro1233Thr) c.2644C>A (p.Pro882Thr) c.3490C>A (p.Pro1164Thr) c.3010C>A (p.Pro1004Thr) | |
12 | g.47976005C>A | CA479451522 | COL2A1 | c.3348G>T (p.Gly1116=) c.3555G>T (p.Gly1185=) n.2641G>T n.408G>T c.3699G>T (p.Gly1233=) c.3696G>T (p.Gly1232=) c.2643G>T (p.Gly881=) c.3489G>T (p.Gly1163=) c.3009G>T (p.Gly1003=) | |
12 | g.47976005C>G | CA479451523 | COL2A1 | c.3348G>C (p.Gly1116=) c.3555G>C (p.Gly1185=) n.2641G>C n.408G>C c.3699G>C (p.Gly1233=) c.3696G>C (p.Gly1232=) c.2643G>C (p.Gly881=) c.3489G>C (p.Gly1163=) c.3009G>C (p.Gly1003=) | ClinVar dbSNP |
12 | g.47976005C>T | CA479451524 | COL2A1 | c.3348G>A (p.Gly1116=) c.3555G>A (p.Gly1185=) n.2641G>A n.408G>A c.3699G>A (p.Gly1233=) c.3696G>A (p.Gly1232=) c.2643G>A (p.Gly881=) c.3489G>A (p.Gly1163=) c.3009G>A (p.Gly1003=) | |
12 | g.47976007dup | CA2840841027 | COL2A1 | c.3348dup (p.Pro1117AlafsTer?) c.3555dup (p.Pro1186AlafsTer?) n.2641dup n.408dup c.3699dup (p.Pro1234AlafsTer?) c.3696dup (p.Pro1233AlafsTer?) c.2643dup (p.Pro882AlafsTer?) c.3489dup (p.Pro1164AlafsTer?) c.3009dup (p.Pro1004AlafsTer?) | |
12 | g.47976006C>A | CA384537328 | COL2A1 | c.3347G>T (p.Gly1116Val) c.3554G>T (p.Gly1185Val) n.2640G>T n.407G>T c.3698G>T (p.Gly1233Val) c.3695G>T (p.Gly1232Val) c.2642G>T (p.Gly881Val) c.3488G>T (p.Gly1163Val) c.3008G>T (p.Gly1003Val) | |
12 | g.47976006C>G | CA384537329 | COL2A1 | c.3347G>C (p.Gly1116Ala) c.3554G>C (p.Gly1185Ala) n.2640G>C n.407G>C c.3698G>C (p.Gly1233Ala) c.3695G>C (p.Gly1232Ala) c.2642G>C (p.Gly881Ala) c.3488G>C (p.Gly1163Ala) c.3008G>C (p.Gly1003Ala) | |
12 | g.47976006C>T | CA384537330 | COL2A1 | c.3347G>A (p.Gly1116Glu) c.3554G>A (p.Gly1185Glu) n.2640G>A n.407G>A c.3698G>A (p.Gly1233Glu) c.3695G>A (p.Gly1232Glu) c.2642G>A (p.Gly881Glu) c.3488G>A (p.Gly1163Glu) c.3008G>A (p.Gly1003Glu) | ClinVar dbSNP |
12 | g.47976008_47976052dup | CA2580085683 | COL2A1 | c.3303_3347dup (p.Gly1116_Pro1117insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly) c.3510_3554dup (p.Gly1185_Pro1186insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly) n.2596_2640dup n.363_407dup c.3654_3698dup (p.Gly1233_Pro1234insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly) c.3651_3695dup (p.Gly1232_Pro1233insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly) c.2598_2642dup (p.Gly881_Pro882insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly) c.3444_3488dup (p.Gly1163_Pro1164insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly) c.2964_3008dup (p.Gly1003_Pro1004insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly) | ClinVar dbSNP |
12 | g.47976007C>A | CA384537331 | COL2A1 | c.3346G>T (p.Gly1116Trp) c.3553G>T (p.Gly1185Trp) n.2639G>T n.406G>T c.3697G>T (p.Gly1233Trp) c.3694G>T (p.Gly1232Trp) c.2641G>T (p.Gly881Trp) c.3487G>T (p.Gly1163Trp) c.3007G>T (p.Gly1003Trp) | |
12 | g.47976007C= | CA2034474871 | COL2A1 | c.3346G= (p.Gly1116=) c.3553G= (p.Gly1185=) n.2639G= n.406G= c.3697G= (p.Gly1233=) c.3694G= (p.Gly1232=) c.2641G= (p.Gly881=) c.3487G= (p.Gly1163=) c.3007G= (p.Gly1003=) | |
12 | g.47976007C>G | CA384537332 | COL2A1 | c.3346G>C (p.Gly1116Arg) c.3553G>C (p.Gly1185Arg) n.2639G>C n.406G>C c.3697G>C (p.Gly1233Arg) c.3694G>C (p.Gly1232Arg) c.2641G>C (p.Gly881Arg) c.3487G>C (p.Gly1163Arg) c.3007G>C (p.Gly1003Arg) | ClinVar dbSNP |
12 | g.47976007C>T | CA384537333 | COL2A1 | c.3346G>A (p.Gly1116Arg) c.3553G>A (p.Gly1185Arg) n.2639G>A n.406G>A c.3697G>A (p.Gly1233Arg) c.3694G>A (p.Gly1232Arg) c.2641G>A (p.Gly881Arg) c.3487G>A (p.Gly1163Arg) c.3007G>A (p.Gly1003Arg) | |
12 | g.47976008A= | CA2034474875 | COL2A1 | c.3345T= (p.Ile1115=) c.3552T= (p.Ile1184=) n.2638T= n.405T= c.3696T= (p.Ile1232=) c.3693T= (p.Ile1231=) c.2640T= (p.Ile880=) c.3486T= (p.Ile1162=) c.3006T= (p.Ile1002=) | |
12 | g.47976008A>C | CA384537334 | COL2A1 | c.3345T>G (p.Ile1115Met) c.3552T>G (p.Ile1184Met) n.2638T>G n.405T>G c.3696T>G (p.Ile1232Met) c.3693T>G (p.Ile1231Met) c.2640T>G (p.Ile880Met) c.3486T>G (p.Ile1162Met) c.3006T>G (p.Ile1002Met) | |
12 | g.47976008A>G | CA479451531 | COL2A1 | c.3345T>C (p.Ile1115=) c.3552T>C (p.Ile1184=) n.2638T>C n.405T>C c.3696T>C (p.Ile1232=) c.3693T>C (p.Ile1231=) c.2640T>C (p.Ile880=) c.3486T>C (p.Ile1162=) c.3006T>C (p.Ile1002=) | |
12 | g.47976008A>T | CA479451533 | COL2A1 | c.3345T>A (p.Ile1115=) c.3552T>A (p.Ile1184=) n.2638T>A n.405T>A c.3696T>A (p.Ile1232=) c.3693T>A (p.Ile1231=) c.2640T>A (p.Ile880=) c.3486T>A (p.Ile1162=) c.3006T>A (p.Ile1002=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47976009A= | CA2034474879 | COL2A1 | c.3344T= (p.Ile1115=) c.3551T= (p.Ile1184=) n.2637T= n.404T= c.3695T= (p.Ile1232=) c.3692T= (p.Ile1231=) c.2639T= (p.Ile880=) c.3485T= (p.Ile1162=) c.3005T= (p.Ile1002=) | |
12 | g.47976009A>C | CA384537336 | COL2A1 | c.3344T>G (p.Ile1115Ser) c.3551T>G (p.Ile1184Ser) n.2637T>G n.404T>G c.3695T>G (p.Ile1232Ser) c.3692T>G (p.Ile1231Ser) c.2639T>G (p.Ile880Ser) c.3485T>G (p.Ile1162Ser) c.3005T>G (p.Ile1002Ser) | |
12 | g.47976009A>G | CA6534709 | COL2A1 | c.3344T>C (p.Ile1115Thr) c.3551T>C (p.Ile1184Thr) n.2637T>C n.404T>C c.3695T>C (p.Ile1232Thr) c.3692T>C (p.Ile1231Thr) c.2639T>C (p.Ile880Thr) c.3485T>C (p.Ile1162Thr) c.3005T>C (p.Ile1002Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47976009A>T | CA384537335 | COL2A1 | c.3344T>A (p.Ile1115Asn) c.3551T>A (p.Ile1184Asn) n.2637T>A n.404T>A c.3695T>A (p.Ile1232Asn) c.3692T>A (p.Ile1231Asn) c.2639T>A (p.Ile880Asn) c.3485T>A (p.Ile1162Asn) c.3005T>A (p.Ile1002Asn) | |
12 | g.47976010T>A | CA384537337 | COL2A1 | c.3343A>T (p.Ile1115Phe) c.3550A>T (p.Ile1184Phe) n.2636A>T n.403A>T c.3694A>T (p.Ile1232Phe) c.3691A>T (p.Ile1231Phe) c.2638A>T (p.Ile880Phe) c.3484A>T (p.Ile1162Phe) c.3004A>T (p.Ile1002Phe) | |
12 | g.47976010T>C | CA384537338 | COL2A1 | c.3343A>G (p.Ile1115Val) c.3550A>G (p.Ile1184Val) n.2636A>G n.403A>G c.3694A>G (p.Ile1232Val) c.3691A>G (p.Ile1231Val) c.2638A>G (p.Ile880Val) c.3484A>G (p.Ile1162Val) c.3004A>G (p.Ile1002Val) | ClinVar dbSNP |
12 | g.47976010T>G | CA384537339 | COL2A1 | c.3343A>C (p.Ile1115Leu) c.3550A>C (p.Ile1184Leu) n.2636A>C n.403A>C c.3694A>C (p.Ile1232Leu) c.3691A>C (p.Ile1231Leu) c.2638A>C (p.Ile880Leu) c.3484A>C (p.Ile1162Leu) c.3004A>C (p.Ile1002Leu) | |
12 | g.47976010T= | CA2034474881 | COL2A1 | c.3343A= (p.Ile1115=) c.3550A= (p.Ile1184=) n.2636A= n.403A= c.3694A= (p.Ile1232=) c.3691A= (p.Ile1231=) c.2638A= (p.Ile880=) c.3484A= (p.Ile1162=) c.3004A= (p.Ile1002=) | |
12 | g.47976011G>A | CA479451543 | COL2A1 | c.3342C>T (p.Pro1114=) c.3549C>T (p.Pro1183=) n.2635C>T n.402C>T c.3693C>T (p.Pro1231=) c.3690C>T (p.Pro1230=) c.2637C>T (p.Pro879=) c.3483C>T (p.Pro1161=) c.3003C>T (p.Pro1001=) | |
12 | g.47976011G>C | CA479451545 | COL2A1 | c.3342C>G (p.Pro1114=) c.3549C>G (p.Pro1183=) n.2635C>G n.402C>G c.3693C>G (p.Pro1231=) c.3690C>G (p.Pro1230=) c.2637C>G (p.Pro879=) c.3483C>G (p.Pro1161=) c.3003C>G (p.Pro1001=) | |
12 | g.47976011G>T | CA479451547 | COL2A1 | c.3342C>A (p.Pro1114=) c.3549C>A (p.Pro1183=) n.2635C>A n.402C>A c.3693C>A (p.Pro1231=) c.3690C>A (p.Pro1230=) c.2637C>A (p.Pro879=) c.3483C>A (p.Pro1161=) c.3003C>A (p.Pro1001=) | |
12 | g.47976014dup | CA2840841028 | COL2A1 | c.3342dup (p.Ile1115HisfsTer?) c.3549dup (p.Ile1184HisfsTer?) n.2635dup n.402dup c.3693dup (p.Ile1232HisfsTer?) c.3690dup (p.Ile1231HisfsTer?) c.2637dup (p.Ile880HisfsTer?) c.3483dup (p.Ile1162HisfsTer?) c.3003dup (p.Ile1002HisfsTer?) | |
12 | g.47976012G>A | CA384537340 | COL2A1 | c.3341C>T (p.Pro1114Leu) c.3548C>T (p.Pro1183Leu) n.2634C>T n.401C>T c.3692C>T (p.Pro1231Leu) c.3689C>T (p.Pro1230Leu) c.2636C>T (p.Pro879Leu) c.3482C>T (p.Pro1161Leu) c.3002C>T (p.Pro1001Leu) | |
12 | g.47976012G>C | CA384537341 | COL2A1 | c.3341C>G (p.Pro1114Arg) c.3548C>G (p.Pro1183Arg) n.2634C>G n.401C>G c.3692C>G (p.Pro1231Arg) c.3689C>G (p.Pro1230Arg) c.2636C>G (p.Pro879Arg) c.3482C>G (p.Pro1161Arg) c.3002C>G (p.Pro1001Arg) | |
12 | g.47976012G>T | CA384537342 | COL2A1 | c.3341C>A (p.Pro1114His) c.3548C>A (p.Pro1183His) n.2634C>A n.401C>A c.3692C>A (p.Pro1231His) c.3689C>A (p.Pro1230His) c.2636C>A (p.Pro879His) c.3482C>A (p.Pro1161His) c.3002C>A (p.Pro1001His) | |
12 | g.47976013G>A | CA384537343 | COL2A1 | c.3340C>T (p.Pro1114Ser) c.3547C>T (p.Pro1183Ser) n.2633C>T n.400C>T c.3691C>T (p.Pro1231Ser) c.3688C>T (p.Pro1230Ser) c.2635C>T (p.Pro879Ser) c.3481C>T (p.Pro1161Ser) c.3001C>T (p.Pro1001Ser) | |
12 | g.47976013G>C | CA384537344 | COL2A1 | c.3340C>G (p.Pro1114Ala) c.3547C>G (p.Pro1183Ala) n.2633C>G n.400C>G c.3691C>G (p.Pro1231Ala) c.3688C>G (p.Pro1230Ala) c.2635C>G (p.Pro879Ala) c.3481C>G (p.Pro1161Ala) c.3001C>G (p.Pro1001Ala) | |
12 | g.47976013G>T | CA384537345 | COL2A1 | c.3340C>A (p.Pro1114Thr) c.3547C>A (p.Pro1183Thr) n.2633C>A n.400C>A c.3691C>A (p.Pro1231Thr) c.3688C>A (p.Pro1230Thr) c.2635C>A (p.Pro879Thr) c.3481C>A (p.Pro1161Thr) c.3001C>A (p.Pro1001Thr) | |
12 | g.47976014G>A | CA479451557 | COL2A1 | c.3339C>T (p.Gly1113=) c.3546C>T (p.Gly1182=) n.2632C>T n.399C>T c.3690C>T (p.Gly1230=) c.3687C>T (p.Gly1229=) c.2634C>T (p.Gly878=) c.3480C>T (p.Gly1160=) c.3000C>T (p.Gly1000=) | |
12 | g.47976014G>C | CA479451559 | COL2A1 | c.3339C>G (p.Gly1113=) c.3546C>G (p.Gly1182=) n.2632C>G n.399C>G c.3690C>G (p.Gly1230=) c.3687C>G (p.Gly1229=) c.2634C>G (p.Gly878=) c.3480C>G (p.Gly1160=) c.3000C>G (p.Gly1000=) | |
12 | g.47976014G= | CA2034474885 | COL2A1 | c.3339C= (p.Gly1113=) c.3546C= (p.Gly1182=) n.2632C= n.399C= c.3690C= (p.Gly1230=) c.3687C= (p.Gly1229=) c.2634C= (p.Gly878=) c.3480C= (p.Gly1160=) c.3000C= (p.Gly1000=) | |
12 | g.47976014G>T | CA6534710 | COL2A1 | c.3339C>A (p.Gly1113=) c.3546C>A (p.Gly1182=) n.2632C>A n.399C>A c.3690C>A (p.Gly1230=) c.3687C>A (p.Gly1229=) c.2634C>A (p.Gly878=) c.3480C>A (p.Gly1160=) c.3000C>A (p.Gly1000=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47976015C>A | CA384537346 | COL2A1 | c.3338G>T (p.Gly1113Val) c.3545G>T (p.Gly1182Val) n.2631G>T n.398G>T c.3689G>T (p.Gly1230Val) c.3686G>T (p.Gly1229Val) c.2633G>T (p.Gly878Val) c.3479G>T (p.Gly1160Val) c.2999G>T (p.Gly1000Val) | |
12 | g.47976015C>G | CA384537347 | COL2A1 | c.3338G>C (p.Gly1113Ala) c.3545G>C (p.Gly1182Ala) n.2631G>C n.398G>C c.3689G>C (p.Gly1230Ala) c.3686G>C (p.Gly1229Ala) c.2633G>C (p.Gly878Ala) c.3479G>C (p.Gly1160Ala) c.2999G>C (p.Gly1000Ala) | |
12 | g.47976015C>T | CA384537348 | COL2A1 | c.3338G>A (p.Gly1113Asp) c.3545G>A (p.Gly1182Asp) n.2631G>A n.398G>A c.3689G>A (p.Gly1230Asp) c.3686G>A (p.Gly1229Asp) c.2633G>A (p.Gly878Asp) c.3479G>A (p.Gly1160Asp) c.2999G>A (p.Gly1000Asp) | COSMIC COSMIC |
12 | g.47976016C>A | CA384537350 | COL2A1 | c.3337G>T (p.Gly1113Cys) c.3544G>T (p.Gly1182Cys) n.2630G>T n.397G>T c.3688G>T (p.Gly1230Cys) c.3685G>T (p.Gly1229Cys) c.2632G>T (p.Gly878Cys) c.3478G>T (p.Gly1160Cys) c.2998G>T (p.Gly1000Cys) | |
12 | g.47976016C>G | CA384537351 | COL2A1 | c.3337G>C (p.Gly1113Arg) c.3544G>C (p.Gly1182Arg) n.2630G>C n.397G>C c.3688G>C (p.Gly1230Arg) c.3685G>C (p.Gly1229Arg) c.2632G>C (p.Gly878Arg) c.3478G>C (p.Gly1160Arg) c.2998G>C (p.Gly1000Arg) | |
12 | g.47976016C>T | CA384537349 | COL2A1 | c.3337G>A (p.Gly1113Ser) c.3544G>A (p.Gly1182Ser) n.2630G>A n.397G>A c.3688G>A (p.Gly1230Ser) c.3685G>A (p.Gly1229Ser) c.2632G>A (p.Gly878Ser) c.3478G>A (p.Gly1160Ser) c.2998G>A (p.Gly1000Ser) | |
12 | g.47976017A>C | CA479451569 | COL2A1 | c.3336T>G (p.Pro1112=) c.3543T>G (p.Pro1181=) n.2629T>G n.396T>G c.3687T>G (p.Pro1229=) c.3684T>G (p.Pro1228=) c.2631T>G (p.Pro877=) c.3477T>G (p.Pro1159=) c.2997T>G (p.Pro999=) | |
12 | g.47976017A>G | CA479451571 | COL2A1 | c.3336T>C (p.Pro1112=) c.3543T>C (p.Pro1181=) n.2629T>C n.396T>C c.3687T>C (p.Pro1229=) c.3684T>C (p.Pro1228=) c.2631T>C (p.Pro877=) c.3477T>C (p.Pro1159=) c.2997T>C (p.Pro999=) | |
12 | g.47976017A>T | CA479451573 | COL2A1 | c.3336T>A (p.Pro1112=) c.3543T>A (p.Pro1181=) n.2629T>A n.396T>A c.3687T>A (p.Pro1229=) c.3684T>A (p.Pro1228=) c.2631T>A (p.Pro877=) c.3477T>A (p.Pro1159=) c.2997T>A (p.Pro999=) | |
12 | g.47976018G>A | CA384537352 | COL2A1 | c.3335C>T (p.Pro1112Leu) c.3542C>T (p.Pro1181Leu) n.2628C>T n.395C>T c.3686C>T (p.Pro1229Leu) c.3683C>T (p.Pro1228Leu) c.2630C>T (p.Pro877Leu) c.3476C>T (p.Pro1159Leu) c.2996C>T (p.Pro999Leu) | gnomAD v4 |
12 | g.47976018G>C | CA384537353 | COL2A1 | c.3335C>G (p.Pro1112Arg) c.3542C>G (p.Pro1181Arg) n.2628C>G n.395C>G c.3686C>G (p.Pro1229Arg) c.3683C>G (p.Pro1228Arg) c.2630C>G (p.Pro877Arg) c.3476C>G (p.Pro1159Arg) c.2996C>G (p.Pro999Arg) | |
12 | g.47976018G>T | CA384537354 | COL2A1 | c.3335C>A (p.Pro1112His) c.3542C>A (p.Pro1181His) n.2628C>A n.395C>A c.3686C>A (p.Pro1229His) c.3683C>A (p.Pro1228His) c.2630C>A (p.Pro877His) c.3476C>A (p.Pro1159His) c.2996C>A (p.Pro999His) | |
12 | g.47976019G>A | CA384537355 | COL2A1 | c.3334C>T (p.Pro1112Ser) c.3541C>T (p.Pro1181Ser) n.2627C>T n.394C>T c.3685C>T (p.Pro1229Ser) c.3682C>T (p.Pro1228Ser) c.2629C>T (p.Pro877Ser) c.3475C>T (p.Pro1159Ser) c.2995C>T (p.Pro999Ser) | ClinVar gnomAD v4 |
12 | g.47976019G>C | CA384537356 | COL2A1 | c.3334C>G (p.Pro1112Ala) c.3541C>G (p.Pro1181Ala) n.2627C>G n.394C>G c.3685C>G (p.Pro1229Ala) c.3682C>G (p.Pro1228Ala) c.2629C>G (p.Pro877Ala) c.3475C>G (p.Pro1159Ala) c.2995C>G (p.Pro999Ala) | gnomAD v4 |
12 | g.47976019G>T | CA384537357 | COL2A1 | c.3334C>A (p.Pro1112Thr) c.3541C>A (p.Pro1181Thr) n.2627C>A n.394C>A c.3685C>A (p.Pro1229Thr) c.3682C>A (p.Pro1228Thr) c.2629C>A (p.Pro877Thr) c.3475C>A (p.Pro1159Thr) c.2995C>A (p.Pro999Thr) | |
12 | g.47976020G>A | CA479451588 | COL2A1 | c.3333C>T (p.Ile1111=) c.3540C>T (p.Ile1180=) n.2626C>T n.393C>T c.3684C>T (p.Ile1228=) c.3681C>T (p.Ile1227=) c.2628C>T (p.Ile876=) c.3474C>T (p.Ile1158=) c.2994C>T (p.Ile998=) | dbSNP gnomAD v4 |
12 | g.47976020G>C | CA384537358 | COL2A1 | c.3333C>G (p.Ile1111Met) c.3540C>G (p.Ile1180Met) n.2626C>G n.393C>G c.3684C>G (p.Ile1228Met) c.3681C>G (p.Ile1227Met) c.2628C>G (p.Ile876Met) c.3474C>G (p.Ile1158Met) c.2994C>G (p.Ile998Met) | |
12 | g.47976020G= | CA2034474890 | COL2A1 | c.3333C= (p.Ile1111=) c.3540C= (p.Ile1180=) n.2626C= n.393C= c.3684C= (p.Ile1228=) c.3681C= (p.Ile1227=) c.2628C= (p.Ile876=) c.3474C= (p.Ile1158=) c.2994C= (p.Ile998=) | |
12 | g.47976020G>T | CA6534711 | COL2A1 | c.3333C>A (p.Ile1111=) c.3540C>A (p.Ile1180=) n.2626C>A n.393C>A c.3684C>A (p.Ile1228=) c.3681C>A (p.Ile1227=) c.2628C>A (p.Ile876=) c.3474C>A (p.Ile1158=) c.2994C>A (p.Ile998=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47976021A>C | CA384537359 | COL2A1 | c.3332T>G (p.Ile1111Ser) c.3539T>G (p.Ile1180Ser) n.2625T>G n.392T>G c.3683T>G (p.Ile1228Ser) c.3680T>G (p.Ile1227Ser) c.2627T>G (p.Ile876Ser) c.3473T>G (p.Ile1158Ser) c.2993T>G (p.Ile998Ser) | |
12 | g.47976021A>G | CA384537360 | COL2A1 | c.3332T>C (p.Ile1111Thr) c.3539T>C (p.Ile1180Thr) n.2625T>C n.392T>C c.3683T>C (p.Ile1228Thr) c.3680T>C (p.Ile1227Thr) c.2627T>C (p.Ile876Thr) c.3473T>C (p.Ile1158Thr) c.2993T>C (p.Ile998Thr) | |
12 | g.47976021A>T | CA384537361 | COL2A1 | c.3332T>A (p.Ile1111Asn) c.3539T>A (p.Ile1180Asn) n.2625T>A n.392T>A c.3683T>A (p.Ile1228Asn) c.3680T>A (p.Ile1227Asn) c.2627T>A (p.Ile876Asn) c.3473T>A (p.Ile1158Asn) c.2993T>A (p.Ile998Asn) | |
12 | g.47976022T>A | CA384537364 | COL2A1 | c.3331A>T (p.Ile1111Phe) c.3538A>T (p.Ile1180Phe) n.2624A>T n.391A>T c.3682A>T (p.Ile1228Phe) c.3679A>T (p.Ile1227Phe) c.2626A>T (p.Ile876Phe) c.3472A>T (p.Ile1158Phe) c.2992A>T (p.Ile998Phe) | |
12 | g.47976022T>C | CA384537363 | COL2A1 | c.3331A>G (p.Ile1111Val) c.3538A>G (p.Ile1180Val) n.2624A>G n.391A>G c.3682A>G (p.Ile1228Val) c.3679A>G (p.Ile1227Val) c.2626A>G (p.Ile876Val) c.3472A>G (p.Ile1158Val) c.2992A>G (p.Ile998Val) | |
12 | g.47976022T>G | CA384537362 | COL2A1 | c.3331A>C (p.Ile1111Leu) c.3538A>C (p.Ile1180Leu) n.2624A>C n.391A>C c.3682A>C (p.Ile1228Leu) c.3679A>C (p.Ile1227Leu) c.2626A>C (p.Ile876Leu) c.3472A>C (p.Ile1158Leu) c.2992A>C (p.Ile998Leu) | ClinVar gnomAD v4 |
12 | g.47976023T>A | CA479451603 | COL2A1 | c.3330A>T (p.Gly1110=) c.3537A>T (p.Gly1179=) n.2623A>T n.390A>T c.3681A>T (p.Gly1227=) c.3678A>T (p.Gly1226=) c.2625A>T (p.Gly875=) c.3471A>T (p.Gly1157=) c.2991A>T (p.Gly997=) | |
12 | g.47976023T>C | CA479451602 | COL2A1 | c.3330A>G (p.Gly1110=) c.3537A>G (p.Gly1179=) n.2623A>G n.390A>G c.3681A>G (p.Gly1227=) c.3678A>G (p.Gly1226=) c.2625A>G (p.Gly875=) c.3471A>G (p.Gly1157=) c.2991A>G (p.Gly997=) | |
12 | g.47976023T>G | CA479451600 | COL2A1 | c.3330A>C (p.Gly1110=) c.3537A>C (p.Gly1179=) n.2623A>C n.390A>C c.3681A>C (p.Gly1227=) c.3678A>C (p.Gly1226=) c.2625A>C (p.Gly875=) c.3471A>C (p.Gly1157=) c.2991A>C (p.Gly997=) | |
12 | g.47976024C>A | CA384537365 | COL2A1 | c.3329G>T (p.Gly1110Val) c.3536G>T (p.Gly1179Val) n.2622G>T n.389G>T c.3680G>T (p.Gly1227Val) c.3677G>T (p.Gly1226Val) c.2624G>T (p.Gly875Val) c.3470G>T (p.Gly1157Val) c.2990G>T (p.Gly997Val) | |
12 | g.47976024C>G | CA384537366 | COL2A1 | c.3329G>C (p.Gly1110Ala) c.3536G>C (p.Gly1179Ala) n.2622G>C n.389G>C c.3680G>C (p.Gly1227Ala) c.3677G>C (p.Gly1226Ala) c.2624G>C (p.Gly875Ala) c.3470G>C (p.Gly1157Ala) c.2990G>C (p.Gly997Ala) | |
12 | g.47976024C>T | CA384537367 | COL2A1 | c.3329G>A (p.Gly1110Glu) c.3536G>A (p.Gly1179Glu) n.2622G>A n.389G>A c.3680G>A (p.Gly1227Glu) c.3677G>A (p.Gly1226Glu) c.2624G>A (p.Gly875Glu) c.3470G>A (p.Gly1157Glu) c.2990G>A (p.Gly997Glu) | ClinVar COSMIC |
12 | g.47976025dup | CA2575137638 | COL2A1 | c.3329dup (p.Ile1111AsnfsTer?) c.3536dup (p.Ile1180AsnfsTer?) n.2622dup n.389dup c.3680dup (p.Ile1228AsnfsTer?) c.3677dup (p.Ile1227AsnfsTer?) c.2624dup (p.Ile876AsnfsTer?) c.3470dup (p.Ile1158AsnfsTer?) c.2990dup (p.Ile998AsnfsTer?) | ClinVar |
12 | g.47976025C>A | CA384537368 | COL2A1 | c.3328G>T (p.Gly1110Ter) c.3535G>T (p.Gly1179Ter) n.2621G>T n.388G>T c.3679G>T (p.Gly1227Ter) c.3676G>T (p.Gly1226Ter) c.2623G>T (p.Gly875Ter) c.3469G>T (p.Gly1157Ter) c.2989G>T (p.Gly997Ter) | COSMIC COSMIC |
12 | g.47976025C>G | CA384537369 | COL2A1 | c.3328G>C (p.Gly1110Arg) c.3535G>C (p.Gly1179Arg) n.2621G>C n.388G>C c.3679G>C (p.Gly1227Arg) c.3676G>C (p.Gly1226Arg) c.2623G>C (p.Gly875Arg) c.3469G>C (p.Gly1157Arg) c.2989G>C (p.Gly997Arg) | |
12 | g.47976025C>T | CA384537370 | COL2A1 | c.3328G>A (p.Gly1110Arg) c.3535G>A (p.Gly1179Arg) n.2621G>A n.388G>A c.3679G>A (p.Gly1227Arg) c.3676G>A (p.Gly1226Arg) c.2623G>A (p.Gly875Arg) c.3469G>A (p.Gly1157Arg) c.2989G>A (p.Gly997Arg) | |
12 | g.47976026A= | CA2034474895 | COL2A1 | c.3327T= (p.Asn1109=) c.3534T= (p.Asn1178=) n.2620T= n.387T= c.3678T= (p.Asn1226=) c.3675T= (p.Asn1225=) c.2622T= (p.Asn874=) c.3468T= (p.Asn1156=) c.2988T= (p.Asn996=) | |
12 | g.47976026A>C | CA384537371 | COL2A1 | c.3327T>G (p.Asn1109Lys) c.3534T>G (p.Asn1178Lys) n.2620T>G n.387T>G c.3678T>G (p.Asn1226Lys) c.3675T>G (p.Asn1225Lys) c.2622T>G (p.Asn874Lys) c.3468T>G (p.Asn1156Lys) c.2988T>G (p.Asn996Lys) | |
12 | g.47976026A>G | CA6534712 | COL2A1 | c.3327T>C (p.Asn1109=) c.3534T>C (p.Asn1178=) n.2620T>C n.387T>C c.3678T>C (p.Asn1226=) c.3675T>C (p.Asn1225=) c.2622T>C (p.Asn874=) c.3468T>C (p.Asn1156=) c.2988T>C (p.Asn996=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47976026A>T | CA384537372 | COL2A1 | c.3327T>A (p.Asn1109Lys) c.3534T>A (p.Asn1178Lys) n.2620T>A n.387T>A c.3678T>A (p.Asn1226Lys) c.3675T>A (p.Asn1225Lys) c.2622T>A (p.Asn874Lys) c.3468T>A (p.Asn1156Lys) c.2988T>A (p.Asn996Lys) | |
12 | g.47976027T>A | CA384537373 | COL2A1 | c.3326A>T (p.Asn1109Ile) c.3533A>T (p.Asn1178Ile) n.2619A>T n.386A>T c.3677A>T (p.Asn1226Ile) c.3674A>T (p.Asn1225Ile) c.2621A>T (p.Asn874Ile) c.3467A>T (p.Asn1156Ile) c.2987A>T (p.Asn996Ile) | gnomAD v4 |
12 | g.47976027T>C | CA384537374 | COL2A1 | c.3326A>G (p.Asn1109Ser) c.3533A>G (p.Asn1178Ser) n.2619A>G n.386A>G c.3677A>G (p.Asn1226Ser) c.3674A>G (p.Asn1225Ser) c.2621A>G (p.Asn874Ser) c.3467A>G (p.Asn1156Ser) c.2987A>G (p.Asn996Ser) | |
12 | g.47976027T>G | CA384537375 | COL2A1 | c.3326A>C (p.Asn1109Thr) c.3533A>C (p.Asn1178Thr) n.2619A>C n.386A>C c.3677A>C (p.Asn1226Thr) c.3674A>C (p.Asn1225Thr) c.2621A>C (p.Asn874Thr) c.3467A>C (p.Asn1156Thr) c.2987A>C (p.Asn996Thr) | |
12 | g.47976028T>A | CA384537378 | COL2A1 | c.3325A>T (p.Asn1109Tyr) c.3532A>T (p.Asn1178Tyr) n.2618A>T n.385A>T c.3676A>T (p.Asn1226Tyr) c.3673A>T (p.Asn1225Tyr) c.2620A>T (p.Asn874Tyr) c.3466A>T (p.Asn1156Tyr) c.2986A>T (p.Asn996Tyr) | |
12 | g.47976028T>C | CA384537377 | COL2A1 | c.3325A>G (p.Asn1109Asp) c.3532A>G (p.Asn1178Asp) n.2618A>G n.385A>G c.3676A>G (p.Asn1226Asp) c.3673A>G (p.Asn1225Asp) c.2620A>G (p.Asn874Asp) c.3466A>G (p.Asn1156Asp) c.2986A>G (p.Asn996Asp) | gnomAD v4 |
12 | g.47976028T>G | CA384537376 | COL2A1 | c.3325A>C (p.Asn1109His) c.3532A>C (p.Asn1178His) n.2618A>C n.385A>C c.3676A>C (p.Asn1226His) c.3673A>C (p.Asn1225His) c.2620A>C (p.Asn874His) c.3466A>C (p.Asn1156His) c.2986A>C (p.Asn996His) | |
12 | g.47976029A>C | CA479451628 | COL2A1 | c.3324T>G (p.Ala1108=) c.3531T>G (p.Ala1177=) n.2617T>G n.384T>G c.3675T>G (p.Ala1225=) c.3672T>G (p.Ala1224=) c.2619T>G (p.Ala873=) c.3465T>G (p.Ala1155=) c.2985T>G (p.Ala995=) | |
12 | g.47976029A>G | CA479451631 | COL2A1 | c.3324T>C (p.Ala1108=) c.3531T>C (p.Ala1177=) n.2617T>C n.384T>C c.3675T>C (p.Ala1225=) c.3672T>C (p.Ala1224=) c.2619T>C (p.Ala873=) c.3465T>C (p.Ala1155=) c.2985T>C (p.Ala995=) | gnomAD v4 |
12 | g.47976029A>T | CA479451632 | COL2A1 | c.3324T>A (p.Ala1108=) c.3531T>A (p.Ala1177=) n.2617T>A n.384T>A c.3675T>A (p.Ala1225=) c.3672T>A (p.Ala1224=) c.2619T>A (p.Ala873=) c.3465T>A (p.Ala1155=) c.2985T>A (p.Ala995=) | |
12 | g.47976030G>A | CA384537379 | COL2A1 | c.3323C>T (p.Ala1108Val) c.3530C>T (p.Ala1177Val) n.2616C>T n.383C>T c.3674C>T (p.Ala1225Val) c.3671C>T (p.Ala1224Val) c.2618C>T (p.Ala873Val) c.3464C>T (p.Ala1155Val) c.2984C>T (p.Ala995Val) | |
12 | g.47976030G>C | CA384537381 | COL2A1 | c.3323C>G (p.Ala1108Gly) c.3530C>G (p.Ala1177Gly) n.2616C>G n.383C>G c.3674C>G (p.Ala1225Gly) c.3671C>G (p.Ala1224Gly) c.2618C>G (p.Ala873Gly) c.3464C>G (p.Ala1155Gly) c.2984C>G (p.Ala995Gly) | |
12 | g.47976030G>T | CA384537380 | COL2A1 | c.3323C>A (p.Ala1108Asp) c.3530C>A (p.Ala1177Asp) n.2616C>A n.383C>A c.3674C>A (p.Ala1225Asp) c.3671C>A (p.Ala1224Asp) c.2618C>A (p.Ala873Asp) c.3464C>A (p.Ala1155Asp) c.2984C>A (p.Ala995Asp) | |
12 | g.47976031C>A | CA384537382 | COL2A1 | c.3322G>T (p.Ala1108Ser) c.3529G>T (p.Ala1177Ser) n.2615G>T n.382G>T c.3673G>T (p.Ala1225Ser) c.3670G>T (p.Ala1224Ser) c.2617G>T (p.Ala873Ser) c.3463G>T (p.Ala1155Ser) c.2983G>T (p.Ala995Ser) | |
12 | g.47976031C>G | CA384537383 | COL2A1 | c.3322G>C (p.Ala1108Pro) c.3529G>C (p.Ala1177Pro) n.2615G>C n.382G>C c.3673G>C (p.Ala1225Pro) c.3670G>C (p.Ala1224Pro) c.2617G>C (p.Ala873Pro) c.3463G>C (p.Ala1155Pro) c.2983G>C (p.Ala995Pro) | |
12 | g.47976031C>T | CA384537384 | COL2A1 | c.3322G>A (p.Ala1108Thr) c.3529G>A (p.Ala1177Thr) n.2615G>A n.382G>A c.3673G>A (p.Ala1225Thr) c.3670G>A (p.Ala1224Thr) c.2617G>A (p.Ala873Thr) c.3463G>A (p.Ala1155Thr) c.2983G>A (p.Ala995Thr) | |
12 | g.47976032A>C | CA479451640 | COL2A1 | c.3321T>G (p.Gly1107=) c.3528T>G (p.Gly1176=) n.2614T>G n.381T>G c.3672T>G (p.Gly1224=) c.3669T>G (p.Gly1223=) c.2616T>G (p.Gly872=) c.3462T>G (p.Gly1154=) c.2982T>G (p.Gly994=) | |
12 | g.47976032A>G | CA479451642 | COL2A1 | c.3321T>C (p.Gly1107=) c.3528T>C (p.Gly1176=) n.2614T>C n.381T>C c.3672T>C (p.Gly1224=) c.3669T>C (p.Gly1223=) c.2616T>C (p.Gly872=) c.3462T>C (p.Gly1154=) c.2982T>C (p.Gly994=) | |
12 | g.47976032A>T | CA479451643 | COL2A1 | c.3321T>A (p.Gly1107=) c.3528T>A (p.Gly1176=) n.2614T>A n.381T>A c.3672T>A (p.Gly1224=) c.3669T>A (p.Gly1223=) c.2616T>A (p.Gly872=) c.3462T>A (p.Gly1154=) c.2982T>A (p.Gly994=) | |
12 | g.47976033C>A | CA384537385 | COL2A1 | c.3320G>T (p.Gly1107Val) c.3527G>T (p.Gly1176Val) n.2613G>T n.380G>T c.3671G>T (p.Gly1224Val) c.3668G>T (p.Gly1223Val) c.2615G>T (p.Gly872Val) c.3461G>T (p.Gly1154Val) c.2981G>T (p.Gly994Val) | |
12 | g.47976033C= | CA2034474907 | COL2A1 | c.3320G= (p.Gly1107=) c.3527G= (p.Gly1176=) n.2613G= n.380G= c.3671G= (p.Gly1224=) c.3668G= (p.Gly1223=) c.2615G= (p.Gly872=) c.3461G= (p.Gly1154=) c.2981G= (p.Gly994=) | |
12 | g.47976033C>G | CA384537386 | COL2A1 | c.3320G>C (p.Gly1107Ala) c.3527G>C (p.Gly1176Ala) n.2613G>C n.380G>C c.3671G>C (p.Gly1224Ala) c.3668G>C (p.Gly1223Ala) c.2615G>C (p.Gly872Ala) c.3461G>C (p.Gly1154Ala) c.2981G>C (p.Gly994Ala) | |
12 | g.47976033C>T | CA384537387 | COL2A1 | c.3320G>A (p.Gly1107Asp) c.3527G>A (p.Gly1176Asp) n.2613G>A n.380G>A c.3671G>A (p.Gly1224Asp) c.3668G>A (p.Gly1223Asp) c.2615G>A (p.Gly872Asp) c.3461G>A (p.Gly1154Asp) c.2981G>A (p.Gly994Asp) | ClinVar dbSNP |
12 | g.47976034C>A | CA384537388 | COL2A1 | c.3319G>T (p.Gly1107Cys) c.3526G>T (p.Gly1176Cys) n.2612G>T n.379G>T c.3670G>T (p.Gly1224Cys) c.3667G>T (p.Gly1223Cys) c.2614G>T (p.Gly872Cys) c.3460G>T (p.Gly1154Cys) c.2980G>T (p.Gly994Cys) | |
12 | g.47976034C>G | CA384537389 | COL2A1 | c.3319G>C (p.Gly1107Arg) c.3526G>C (p.Gly1176Arg) n.2612G>C n.379G>C c.3670G>C (p.Gly1224Arg) c.3667G>C (p.Gly1223Arg) c.2614G>C (p.Gly872Arg) c.3460G>C (p.Gly1154Arg) c.2980G>C (p.Gly994Arg) | |
12 | g.47976034C>T | CA384537390 | COL2A1 | c.3319G>A (p.Gly1107Ser) c.3526G>A (p.Gly1176Ser) n.2612G>A n.379G>A c.3670G>A (p.Gly1224Ser) c.3667G>A (p.Gly1223Ser) c.2614G>A (p.Gly872Ser) c.3460G>A (p.Gly1154Ser) c.2980G>A (p.Gly994Ser) | ClinVar dbSNP |
12 | g.47976035A= | CA2034474910 | COL2A1 | c.3318T= (p.Asp1106=) c.3525T= (p.Asp1175=) n.2611T= n.378T= c.3669T= (p.Asp1223=) c.3666T= (p.Asp1222=) c.2613T= (p.Asp871=) c.3459T= (p.Asp1153=) c.2979T= (p.Asp993=) | |
12 | g.47976035A>C | CA384537391 | COL2A1 | c.3318T>G (p.Asp1106Glu) c.3525T>G (p.Asp1175Glu) n.2611T>G n.378T>G c.3669T>G (p.Asp1223Glu) c.3666T>G (p.Asp1222Glu) c.2613T>G (p.Asp871Glu) c.3459T>G (p.Asp1153Glu) c.2979T>G (p.Asp993Glu) | |
12 | g.47976035A>G | CA236517704 | COL2A1 | c.3318T>C (p.Asp1106=) c.3525T>C (p.Asp1175=) n.2611T>C n.378T>C c.3669T>C (p.Asp1223=) c.3666T>C (p.Asp1222=) c.2613T>C (p.Asp871=) c.3459T>C (p.Asp1153=) c.2979T>C (p.Asp993=) | dbSNP gnomAD v4 |
12 | g.47976035A>T | CA384537392 | COL2A1 | c.3318T>A (p.Asp1106Glu) c.3525T>A (p.Asp1175Glu) n.2611T>A n.378T>A c.3669T>A (p.Asp1223Glu) c.3666T>A (p.Asp1222Glu) c.2613T>A (p.Asp871Glu) c.3459T>A (p.Asp1153Glu) c.2979T>A (p.Asp993Glu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47976036T>A | CA384537395 | COL2A1 | c.3317A>T (p.Asp1106Val) c.3524A>T (p.Asp1175Val) n.2610A>T n.377A>T c.3668A>T (p.Asp1223Val) c.3665A>T (p.Asp1222Val) c.2612A>T (p.Asp871Val) c.3458A>T (p.Asp1153Val) c.2978A>T (p.Asp993Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47976036T>C | CA384537393 | COL2A1 | c.3317A>G (p.Asp1106Gly) c.3524A>G (p.Asp1175Gly) n.2610A>G n.377A>G c.3668A>G (p.Asp1223Gly) c.3665A>G (p.Asp1222Gly) c.2612A>G (p.Asp871Gly) c.3458A>G (p.Asp1153Gly) c.2978A>G (p.Asp993Gly) | |
12 | g.47976036T>G | CA384537394 | COL2A1 | c.3317A>C (p.Asp1106Ala) c.3524A>C (p.Asp1175Ala) n.2610A>C n.377A>C c.3668A>C (p.Asp1223Ala) c.3665A>C (p.Asp1222Ala) c.2612A>C (p.Asp871Ala) c.3458A>C (p.Asp1153Ala) c.2978A>C (p.Asp993Ala) | |
12 | g.47976036T= | CA2034474916 | COL2A1 | c.3317A= (p.Asp1106=) c.3524A= (p.Asp1175=) n.2610A= n.377A= c.3668A= (p.Asp1223=) c.3665A= (p.Asp1222=) c.2612A= (p.Asp871=) c.3458A= (p.Asp1153=) c.2978A= (p.Asp993=) | |
12 | g.47976037C>A | CA384537396 | COL2A1 | c.3316G>T (p.Asp1106Tyr) c.3523G>T (p.Asp1175Tyr) n.2609G>T n.376G>T c.3667G>T (p.Asp1223Tyr) c.3664G>T (p.Asp1222Tyr) c.2611G>T (p.Asp871Tyr) c.3457G>T (p.Asp1153Tyr) c.2977G>T (p.Asp993Tyr) | gnomAD v4 |
12 | g.47976037C>G | CA384537397 | COL2A1 | c.3316G>C (p.Asp1106His) c.3523G>C (p.Asp1175His) n.2609G>C n.376G>C c.3667G>C (p.Asp1223His) c.3664G>C (p.Asp1222His) c.2611G>C (p.Asp871His) c.3457G>C (p.Asp1153His) c.2977G>C (p.Asp993His) | |
12 | g.47976037C>T | CA384537398 | COL2A1 | c.3316G>A (p.Asp1106Asn) c.3523G>A (p.Asp1175Asn) n.2609G>A n.376G>A c.3667G>A (p.Asp1223Asn) c.3664G>A (p.Asp1222Asn) c.2611G>A (p.Asp871Asn) c.3457G>A (p.Asp1153Asn) c.2977G>A (p.Asp993Asn) | COSMIC |
12 | g.47976038T>A | CA384537399 | COL2A1 | c.3315A>T (p.Lys1105Asn) c.3522A>T (p.Lys1174Asn) n.2608A>T n.375A>T c.3666A>T (p.Lys1222Asn) c.3663A>T (p.Lys1221Asn) c.2610A>T (p.Lys870Asn) c.3456A>T (p.Lys1152Asn) c.2976A>T (p.Lys992Asn) | |
12 | g.47976038T>C | CA479451660 | COL2A1 | c.3315A>G (p.Lys1105=) c.3522A>G (p.Lys1174=) n.2608A>G n.375A>G c.3666A>G (p.Lys1222=) c.3663A>G (p.Lys1221=) c.2610A>G (p.Lys870=) c.3456A>G (p.Lys1152=) c.2976A>G (p.Lys992=) | |
12 | g.47976038T>G | CA384537400 | COL2A1 | c.3315A>C (p.Lys1105Asn) c.3522A>C (p.Lys1174Asn) n.2608A>C n.375A>C c.3666A>C (p.Lys1222Asn) c.3663A>C (p.Lys1221Asn) c.2610A>C (p.Lys870Asn) c.3456A>C (p.Lys1152Asn) c.2976A>C (p.Lys992Asn) | |
12 | g.47976039T>A | CA384537401 | COL2A1 | c.3314A>T (p.Lys1105Ile) c.3521A>T (p.Lys1174Ile) n.2607A>T n.374A>T c.3665A>T (p.Lys1222Ile) c.3662A>T (p.Lys1221Ile) c.2609A>T (p.Lys870Ile) c.3455A>T (p.Lys1152Ile) c.2975A>T (p.Lys992Ile) | |
12 | g.47976039T>C | CA384537402 | COL2A1 | c.3314A>G (p.Lys1105Arg) c.3521A>G (p.Lys1174Arg) n.2607A>G n.374A>G c.3665A>G (p.Lys1222Arg) c.3662A>G (p.Lys1221Arg) c.2609A>G (p.Lys870Arg) c.3455A>G (p.Lys1152Arg) c.2975A>G (p.Lys992Arg) | |
12 | g.47976039T>G | CA384537403 | COL2A1 | c.3314A>C (p.Lys1105Thr) c.3521A>C (p.Lys1174Thr) n.2607A>C n.374A>C c.3665A>C (p.Lys1222Thr) c.3662A>C (p.Lys1221Thr) c.2609A>C (p.Lys870Thr) c.3455A>C (p.Lys1152Thr) c.2975A>C (p.Lys992Thr) | |
12 | g.47976040T>A | CA384537404 | COL2A1 | c.3313A>T (p.Lys1105Ter) c.3520A>T (p.Lys1174Ter) n.2606A>T n.373A>T c.3664A>T (p.Lys1222Ter) c.3661A>T (p.Lys1221Ter) c.2608A>T (p.Lys870Ter) c.3454A>T (p.Lys1152Ter) c.2974A>T (p.Lys992Ter) | |
12 | g.47976040T>C | CA384537405 | COL2A1 | c.3313A>G (p.Lys1105Glu) c.3520A>G (p.Lys1174Glu) n.2606A>G n.373A>G c.3664A>G (p.Lys1222Glu) c.3661A>G (p.Lys1221Glu) c.2608A>G (p.Lys870Glu) c.3454A>G (p.Lys1152Glu) c.2974A>G (p.Lys992Glu) | |
12 | g.47976040T>G | CA384537406 | COL2A1 | c.3313A>C (p.Lys1105Gln) c.3520A>C (p.Lys1174Gln) n.2606A>C n.373A>C c.3664A>C (p.Lys1222Gln) c.3661A>C (p.Lys1221Gln) c.2608A>C (p.Lys870Gln) c.3454A>C (p.Lys1152Gln) c.2974A>C (p.Lys992Gln) | |
12 | g.47976041G>A | CA479451672 | COL2A1 | c.3312C>T (p.Gly1104=) c.3519C>T (p.Gly1173=) n.2605C>T n.372C>T c.3663C>T (p.Gly1221=) c.3660C>T (p.Gly1220=) c.2607C>T (p.Gly869=) c.3453C>T (p.Gly1151=) c.2973C>T (p.Gly991=) | |
12 | g.47976041G>C | CA479451674 | COL2A1 | c.3312C>G (p.Gly1104=) c.3519C>G (p.Gly1173=) n.2605C>G n.372C>G c.3663C>G (p.Gly1221=) c.3660C>G (p.Gly1220=) c.2607C>G (p.Gly869=) c.3453C>G (p.Gly1151=) c.2973C>G (p.Gly991=) | |
12 | g.47976041G>T | CA479451671 | COL2A1 | c.3312C>A (p.Gly1104=) c.3519C>A (p.Gly1173=) n.2605C>A n.372C>A c.3663C>A (p.Gly1221=) c.3660C>A (p.Gly1220=) c.2607C>A (p.Gly869=) c.3453C>A (p.Gly1151=) c.2973C>A (p.Gly991=) | COSMIC COSMIC |
12 | g.47976042C>A | CA384537408 | COL2A1 | c.3311G>T (p.Gly1104Val) c.3518G>T (p.Gly1173Val) n.2604G>T n.371G>T c.3662G>T (p.Gly1221Val) c.3659G>T (p.Gly1220Val) c.2606G>T (p.Gly869Val) c.3452G>T (p.Gly1151Val) c.2972G>T (p.Gly991Val) | |
12 | g.47976042C>G | CA384537409 | COL2A1 | c.3311G>C (p.Gly1104Ala) c.3518G>C (p.Gly1173Ala) n.2604G>C n.371G>C c.3662G>C (p.Gly1221Ala) c.3659G>C (p.Gly1220Ala) c.2606G>C (p.Gly869Ala) c.3452G>C (p.Gly1151Ala) c.2972G>C (p.Gly991Ala) | |
12 | g.47976042C>T | CA384537407 | COL2A1 | c.3311G>A (p.Gly1104Asp) c.3518G>A (p.Gly1173Asp) n.2604G>A n.371G>A c.3662G>A (p.Gly1221Asp) c.3659G>A (p.Gly1220Asp) c.2606G>A (p.Gly869Asp) c.3452G>A (p.Gly1151Asp) c.2972G>A (p.Gly991Asp) | |
12 | g.47976043C>A | CA384537410 | COL2A1 | c.3310G>T (p.Gly1104Cys) c.3517G>T (p.Gly1173Cys) n.2603G>T n.370G>T c.3661G>T (p.Gly1221Cys) c.3658G>T (p.Gly1220Cys) c.2605G>T (p.Gly869Cys) c.3451G>T (p.Gly1151Cys) c.2971G>T (p.Gly991Cys) | |
12 | g.47976043C= | CA2034474922 | COL2A1 | c.3310G= (p.Gly1104=) c.3517G= (p.Gly1173=) n.2603G= n.370G= c.3661G= (p.Gly1221=) c.3658G= (p.Gly1220=) c.2605G= (p.Gly869=) c.3451G= (p.Gly1151=) c.2971G= (p.Gly991=) | |
12 | g.47976043C>G | CA250686 | COL2A1 | c.3310G>C (p.Gly1104Arg) c.3517G>C (p.Gly1173Arg) n.2603G>C n.370G>C c.3661G>C (p.Gly1221Arg) c.3658G>C (p.Gly1220Arg) c.2605G>C (p.Gly869Arg) c.3451G>C (p.Gly1151Arg) c.2971G>C (p.Gly991Arg) | ClinVar dbSNP |
12 | g.47976043C>T | CA384537411 | COL2A1 | c.3310G>A (p.Gly1104Ser) c.3517G>A (p.Gly1173Ser) n.2603G>A n.370G>A c.3661G>A (p.Gly1221Ser) c.3658G>A (p.Gly1220Ser) c.2605G>A (p.Gly869Ser) c.3451G>A (p.Gly1151Ser) c.2971G>A (p.Gly991Ser) | |
12 | g.47976044A>C | CA479451683 | COL2A1 | c.3309T>G (p.Ser1103=) c.3516T>G (p.Ser1172=) n.2602T>G n.369T>G c.3660T>G (p.Ser1220=) c.3657T>G (p.Ser1219=) c.2604T>G (p.Ser868=) c.3450T>G (p.Ser1150=) c.2970T>G (p.Ser990=) | ClinVar dbSNP |
12 | g.47976044A>G | CA479451684 | COL2A1 | c.3309T>C (p.Ser1103=) c.3516T>C (p.Ser1172=) n.2602T>C n.369T>C c.3660T>C (p.Ser1220=) c.3657T>C (p.Ser1219=) c.2604T>C (p.Ser868=) c.3450T>C (p.Ser1150=) c.2970T>C (p.Ser990=) | |
12 | g.47976044A>T | CA479451686 | COL2A1 | c.3309T>A (p.Ser1103=) c.3516T>A (p.Ser1172=) n.2602T>A n.369T>A c.3660T>A (p.Ser1220=) c.3657T>A (p.Ser1219=) c.2604T>A (p.Ser868=) c.3450T>A (p.Ser1150=) c.2970T>A (p.Ser990=) | |
12 | g.47976046_47976047del | CA2697559178 | COL2A1 | c.3308_3309del (p.Ser1103TrpfsTer6) c.3515_3516del (p.Ser1172TrpfsTer6) n.2601_2602del n.368_369del c.3659_3660del (p.Ser1220TrpfsTer6) c.3656_3657del (p.Ser1219TrpfsTer6) c.2603_2604del (p.Ser868TrpfsTer6) c.3449_3450del (p.Ser1150TrpfsTer6) c.2969_2970del (p.Ser990TrpfsTer6) | ClinVar |
12 | g.47976045G>A | CA384537412 | COL2A1 | c.3308C>T (p.Ser1103Phe) c.3515C>T (p.Ser1172Phe) n.2601C>T n.368C>T c.3659C>T (p.Ser1220Phe) c.3656C>T (p.Ser1219Phe) c.2603C>T (p.Ser868Phe) c.3449C>T (p.Ser1150Phe) c.2969C>T (p.Ser990Phe) | |
12 | g.47976045G>C | CA384537413 | COL2A1 | c.3308C>G (p.Ser1103Cys) c.3515C>G (p.Ser1172Cys) n.2601C>G n.368C>G c.3659C>G (p.Ser1220Cys) c.3656C>G (p.Ser1219Cys) c.2603C>G (p.Ser868Cys) c.3449C>G (p.Ser1150Cys) c.2969C>G (p.Ser990Cys) | |
12 | g.47976045G>T | CA384537414 | COL2A1 | c.3308C>A (p.Ser1103Tyr) c.3515C>A (p.Ser1172Tyr) n.2601C>A n.368C>A c.3659C>A (p.Ser1220Tyr) c.3656C>A (p.Ser1219Tyr) c.2603C>A (p.Ser868Tyr) c.3449C>A (p.Ser1150Tyr) c.2969C>A (p.Ser990Tyr) | |
12 | g.47976046A= | CA2034474927 | COL2A1 | c.3307T= (p.Ser1103=) c.3514T= (p.Ser1172=) n.2600T= n.367T= c.3658T= (p.Ser1220=) c.3655T= (p.Ser1219=) c.2602T= (p.Ser868=) c.3448T= (p.Ser1150=) c.2968T= (p.Ser990=) | |
12 | g.47976046A>C | CA384537415 | COL2A1 | c.3307T>G (p.Ser1103Ala) c.3514T>G (p.Ser1172Ala) n.2600T>G n.367T>G c.3658T>G (p.Ser1220Ala) c.3655T>G (p.Ser1219Ala) c.2602T>G (p.Ser868Ala) c.3448T>G (p.Ser1150Ala) c.2968T>G (p.Ser990Ala) | |
12 | g.47976046A>G | CA384537416 | COL2A1 | c.3307T>C (p.Ser1103Pro) c.3514T>C (p.Ser1172Pro) n.2600T>C n.367T>C c.3658T>C (p.Ser1220Pro) c.3655T>C (p.Ser1219Pro) c.2602T>C (p.Ser868Pro) c.3448T>C (p.Ser1150Pro) c.2968T>C (p.Ser990Pro) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47976046A>T | CA384537417 | COL2A1 | c.3307T>A (p.Ser1103Thr) c.3514T>A (p.Ser1172Thr) n.2600T>A n.367T>A c.3658T>A (p.Ser1220Thr) c.3655T>A (p.Ser1219Thr) c.2602T>A (p.Ser868Thr) c.3448T>A (p.Ser1150Thr) c.2968T>A (p.Ser990Thr) | |
12 | g.47976047G>A | CA479451698 | COL2A1 | c.3306C>T (p.Pro1102=) c.3513C>T (p.Pro1171=) n.2599C>T n.366C>T c.3657C>T (p.Pro1219=) c.3654C>T (p.Pro1218=) c.2601C>T (p.Pro867=) c.3447C>T (p.Pro1149=) c.2967C>T (p.Pro989=) | |
12 | g.47976047G>C | CA479451694 | COL2A1 | c.3306C>G (p.Pro1102=) c.3513C>G (p.Pro1171=) n.2599C>G n.366C>G c.3657C>G (p.Pro1219=) c.3654C>G (p.Pro1218=) c.2601C>G (p.Pro867=) c.3447C>G (p.Pro1149=) c.2967C>G (p.Pro989=) | gnomAD v4 |
12 | g.47976047G= | CA2034474931 | COL2A1 | c.3306C= (p.Pro1102=) c.3513C= (p.Pro1171=) n.2599C= n.366C= c.3657C= (p.Pro1219=) c.3654C= (p.Pro1218=) c.2601C= (p.Pro867=) c.3447C= (p.Pro1149=) c.2967C= (p.Pro989=) | |
12 | g.47976047G>T | CA6534713 | COL2A1 | c.3306C>A (p.Pro1102=) c.3513C>A (p.Pro1171=) n.2599C>A n.366C>A c.3657C>A (p.Pro1219=) c.3654C>A (p.Pro1218=) c.2601C>A (p.Pro867=) c.3447C>A (p.Pro1149=) c.2967C>A (p.Pro989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47976048G>A | CA384537418 | COL2A1 | c.3305C>T (p.Pro1102Leu) c.3512C>T (p.Pro1171Leu) n.2598C>T n.365C>T c.3656C>T (p.Pro1219Leu) c.3653C>T (p.Pro1218Leu) c.2600C>T (p.Pro867Leu) c.3446C>T (p.Pro1149Leu) c.2966C>T (p.Pro989Leu) | |
12 | g.47976048G>C | CA384537419 | COL2A1 | c.3305C>G (p.Pro1102Arg) c.3512C>G (p.Pro1171Arg) n.2598C>G n.365C>G c.3656C>G (p.Pro1219Arg) c.3653C>G (p.Pro1218Arg) c.2600C>G (p.Pro867Arg) c.3446C>G (p.Pro1149Arg) c.2966C>G (p.Pro989Arg) | |
12 | g.47976048G>T | CA384537420 | COL2A1 | c.3305C>A (p.Pro1102His) c.3512C>A (p.Pro1171His) n.2598C>A n.365C>A c.3656C>A (p.Pro1219His) c.3653C>A (p.Pro1218His) c.2600C>A (p.Pro867His) c.3446C>A (p.Pro1149His) c.2966C>A (p.Pro989His) | |
12 | g.47976049G>A | CA6534714 | COL2A1 | c.3304C>T (p.Pro1102Ser) c.3511C>T (p.Pro1171Ser) n.2597C>T n.364C>T c.3655C>T (p.Pro1219Ser) c.3652C>T (p.Pro1218Ser) c.2599C>T (p.Pro867Ser) c.3445C>T (p.Pro1149Ser) c.2965C>T (p.Pro989Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47976049G>C | CA6534715 | COL2A1 | c.3304C>G (p.Pro1102Ala) c.3511C>G (p.Pro1171Ala) n.2597C>G n.364C>G c.3655C>G (p.Pro1219Ala) c.3652C>G (p.Pro1218Ala) c.2599C>G (p.Pro867Ala) c.3445C>G (p.Pro1149Ala) c.2965C>G (p.Pro989Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47976049G= | CA2034474939 | COL2A1 | c.3304C= (p.Pro1102=) c.3511C= (p.Pro1171=) n.2597C= n.364C= c.3655C= (p.Pro1219=) c.3652C= (p.Pro1218=) c.2599C= (p.Pro867=) c.3445C= (p.Pro1149=) c.2965C= (p.Pro989=) | |
12 | g.47976049G>T | CA384537421 | COL2A1 | c.3304C>A (p.Pro1102Thr) c.3511C>A (p.Pro1171Thr) n.2597C>A n.364C>A c.3655C>A (p.Pro1219Thr) c.3652C>A (p.Pro1218Thr) c.2599C>A (p.Pro867Thr) c.3445C>A (p.Pro1149Thr) c.2965C>A (p.Pro989Thr) | |
12 | g.47976050A= | CA2034474945 | COL2A1 | c.3303T= (p.Gly1101=) c.3510T= (p.Gly1170=) n.2596T= n.363T= c.3654T= (p.Gly1218=) c.3651T= (p.Gly1217=) c.2598T= (p.Gly866=) c.3444T= (p.Gly1148=) c.2964T= (p.Gly988=) | |
12 | g.47976050A>C | CA479451708 | COL2A1 | c.3303T>G (p.Gly1101=) c.3510T>G (p.Gly1170=) n.2596T>G n.363T>G c.3654T>G (p.Gly1218=) c.3651T>G (p.Gly1217=) c.2598T>G (p.Gly866=) c.3444T>G (p.Gly1148=) c.2964T>G (p.Gly988=) | |
12 | g.47976050A>G | CA479451709 | COL2A1 | c.3303T>C (p.Gly1101=) c.3510T>C (p.Gly1170=) n.2596T>C n.363T>C c.3654T>C (p.Gly1218=) c.3651T>C (p.Gly1217=) c.2598T>C (p.Gly866=) c.3444T>C (p.Gly1148=) c.2964T>C (p.Gly988=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47976050A>T | CA479451711 | COL2A1 | c.3303T>A (p.Gly1101=) c.3510T>A (p.Gly1170=) n.2596T>A n.363T>A c.3654T>A (p.Gly1218=) c.3651T>A (p.Gly1217=) c.2598T>A (p.Gly866=) c.3444T>A (p.Gly1148=) c.2964T>A (p.Gly988=) |