| 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.47975943G= | CA2034474744 | COL2A1 | c.3390+20C= (n.3390+20C=) c.3597+20C= (n.3597+20C=) n.2683+20C= n.450+20C= c.3741+20C= (n.3741+20C=) c.3738+20C= (n.3738+20C=) c.2685+20C= (n.2685+20C=) c.3531+20C= (n.3531+20C=) c.3051+20C= (n.3051+20C=) | |
| 12 | g.47975943G>T | CA2034474745 | COL2A1 | c.3390+20C>A (n.3390+20C>A) c.3597+20C>A (n.3597+20C>A) n.2683+20C>A n.450+20C>A c.3741+20C>A (n.3741+20C>A) c.3738+20C>A (n.3738+20C>A) c.2685+20C>A (n.2685+20C>A) c.3531+20C>A (n.3531+20C>A) c.3051+20C>A (n.3051+20C>A) | dbSNP gnomAD v4 |
| 12 | g.47975945_47975946delinsAG | CA2034474746 | COL2A1 | c.3390+17_3390+18delinsCT (n.3390+17_3390+18delinsCT) c.3597+17_3597+18delinsCT (n.3597+17_3597+18delinsCT) n.2683+17_2683+18delinsCT n.450+17_450+18delinsCT c.3741+17_3741+18delinsCT (n.3741+17_3741+18delinsCT) c.3738+17_3738+18delinsCT (n.3738+17_3738+18delinsCT) c.2685+17_2685+18delinsCT (n.2685+17_2685+18delinsCT) c.3531+17_3531+18delinsCT (n.3531+17_3531+18delinsCT) c.3051+17_3051+18delinsCT (n.3051+17_3051+18delinsCT) | |
| 12 | g.47975946G>T | CA2618508024 | COL2A1 | c.3390+17C>A (n.3390+17C>A) c.3597+17C>A (n.3597+17C>A) n.2683+17C>A n.450+17C>A c.3741+17C>A (n.3741+17C>A) c.3738+17C>A (n.3738+17C>A) c.2685+17C>A (n.2685+17C>A) c.3531+17C>A (n.3531+17C>A) c.3051+17C>A (n.3051+17C>A) | gnomAD v4 |
| 12 | g.47975947del | CA6534699 | COL2A1 | c.3390+17del (n.3390+17del) c.3597+17del (n.3597+17del) n.2683+17del n.450+17del c.3741+17del (n.3741+17del) c.3738+17del (n.3738+17del) c.2685+17del (n.2685+17del) c.3531+17del (n.3531+17del) c.3051+17del (n.3051+17del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47975947G>T | CA2618508026 | COL2A1 | c.3390+16C>A (n.3390+16C>A) c.3597+16C>A (n.3597+16C>A) n.2683+16C>A n.450+16C>A c.3741+16C>A (n.3741+16C>A) c.3738+16C>A (n.3738+16C>A) c.2685+16C>A (n.2685+16C>A) c.3531+16C>A (n.3531+16C>A) c.3051+16C>A (n.3051+16C>A) | gnomAD v4 |
| 12 | g.47975948A>G | CA2618508028 | COL2A1 | c.3390+15T>C (n.3390+15T>C) c.3597+15T>C (n.3597+15T>C) n.2683+15T>C n.450+15T>C c.3741+15T>C (n.3741+15T>C) c.3738+15T>C (n.3738+15T>C) c.2685+15T>C (n.2685+15T>C) c.3531+15T>C (n.3531+15T>C) c.3051+15T>C (n.3051+15T>C) | gnomAD v4 |
| 12 | g.47975949G>T | CA2618508030 | COL2A1 | c.3390+14C>A (n.3390+14C>A) c.3597+14C>A (n.3597+14C>A) n.2683+14C>A n.450+14C>A c.3741+14C>A (n.3741+14C>A) c.3738+14C>A (n.3738+14C>A) c.2685+14C>A (n.2685+14C>A) c.3531+14C>A (n.3531+14C>A) c.3051+14C>A (n.3051+14C>A) | 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=) |