| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47995882C>A | CA384523849 | COL2A1 | c.440G>T (p.Gly147Val) c.647G>T (p.Gly216Val) c.791G>T (p.Gly264Val) c.788G>T (p.Gly263Val) c.581G>T (p.Gly194Val) c.101G>T (p.Gly34Val) | |
| 12 | g.47995882C= | CA2034479659 | COL2A1 | c.440G= (p.Gly147=) c.647G= (p.Gly216=) c.791G= (p.Gly264=) c.788G= (p.Gly263=) c.581G= (p.Gly194=) c.101G= (p.Gly34=) | |
| 12 | g.47995882C>G | CA384523850 | COL2A1 | c.440G>C (p.Gly147Ala) c.647G>C (p.Gly216Ala) c.791G>C (p.Gly264Ala) c.788G>C (p.Gly263Ala) c.581G>C (p.Gly194Ala) c.101G>C (p.Gly34Ala) | |
| 12 | g.47995882C>T | CA16619530 | COL2A1 | c.440G>A (p.Gly147Asp) c.647G>A (p.Gly216Asp) c.791G>A (p.Gly264Asp) c.788G>A (p.Gly263Asp) c.581G>A (p.Gly194Asp) c.101G>A (p.Gly34Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47995883C>A | CA384523854 | COL2A1 | c.439G>T (p.Gly147Cys) c.646G>T (p.Gly216Cys) c.790G>T (p.Gly264Cys) c.787G>T (p.Gly263Cys) c.580G>T (p.Gly194Cys) c.100G>T (p.Gly34Cys) | ClinVar |
| 12 | g.47995883C>G | CA384523857 | COL2A1 | c.439G>C (p.Gly147Arg) c.646G>C (p.Gly216Arg) c.790G>C (p.Gly264Arg) c.787G>C (p.Gly263Arg) c.580G>C (p.Gly194Arg) c.100G>C (p.Gly34Arg) | |
| 12 | g.47995883C>T | CA384523855 | COL2A1 | c.439G>A (p.Gly147Ser) c.646G>A (p.Gly216Ser) c.790G>A (p.Gly264Ser) c.787G>A (p.Gly263Ser) c.580G>A (p.Gly194Ser) c.100G>A (p.Gly34Ser) | gnomAD v4 |
| 12 | g.47995884_47995885insCCAGGCCCTGCAGGTGCTCCTGTAAGTATCT | CA2618516250 | COL2A1 | c.439_440insATACTTACAGGAGCACCTGCAGGGCCTGGAG (p.Gly147AspfsTer24) c.646_647insATACTTACAGGAGCACCTGCAGGGCCTGGAG (p.Gly216AspfsTer24) c.790_791insATACTTACAGGAGCACCTGCAGGGCCTGGAG (p.Gly264AspfsTer24) c.787_788insATACTTACAGGAGCACCTGCAGGGCCTGGAG (p.Gly263AspfsTer24) c.580_581insATACTTACAGGAGCACCTGCAGGGCCTGGAG (p.Gly194AspfsTer24) c.100_101insATACTTACAGGAGCACCTGCAGGGCCTGGAG (p.Gly34AspfsTer24) | gnomAD v4 |
| 12 | g.47995884T>A | CA479442079 | COL2A1 | c.438A>T (p.Ala146=) c.645A>T (p.Ala215=) c.789A>T (p.Ala263=) c.786A>T (p.Ala262=) c.579A>T (p.Ala193=) c.99A>T (p.Ala33=) | |
| 12 | g.47995884T>C | CA479442080 | COL2A1 | c.438A>G (p.Ala146=) c.645A>G (p.Ala215=) c.789A>G (p.Ala263=) c.786A>G (p.Ala262=) c.579A>G (p.Ala193=) c.99A>G (p.Ala33=) | |
| 12 | g.47995884T>G | CA479442081 | COL2A1 | c.438A>C (p.Ala146=) c.645A>C (p.Ala215=) c.789A>C (p.Ala263=) c.786A>C (p.Ala262=) c.579A>C (p.Ala193=) c.99A>C (p.Ala33=) | |
| 12 | g.47995885G>A | CA6535861 | COL2A1 | c.437C>T (p.Ala146Val) c.644C>T (p.Ala215Val) c.788C>T (p.Ala263Val) c.785C>T (p.Ala262Val) c.578C>T (p.Ala193Val) c.98C>T (p.Ala33Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47995885G>C | CA384523860 | COL2A1 | c.437C>G (p.Ala146Gly) c.644C>G (p.Ala215Gly) c.788C>G (p.Ala263Gly) c.785C>G (p.Ala262Gly) c.578C>G (p.Ala193Gly) c.98C>G (p.Ala33Gly) | gnomAD v4 |
| 12 | g.47995885G= | CA2034479670 | COL2A1 | c.437C= (p.Ala146=) c.644C= (p.Ala215=) c.788C= (p.Ala263=) c.785C= (p.Ala262=) c.578C= (p.Ala193=) c.98C= (p.Ala33=) | |
| 12 | g.47995885G>T | CA6535862 | COL2A1 | c.437C>A (p.Ala146Glu) c.644C>A (p.Ala215Glu) c.788C>A (p.Ala263Glu) c.785C>A (p.Ala262Glu) c.578C>A (p.Ala193Glu) c.98C>A (p.Ala33Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47995886C>A | CA384523863 | COL2A1 | c.436G>T (p.Ala146Ser) c.643G>T (p.Ala215Ser) c.787G>T (p.Ala263Ser) c.784G>T (p.Ala262Ser) c.577G>T (p.Ala193Ser) c.97G>T (p.Ala33Ser) | |
| 12 | g.47995886C= | CA2034479676 | COL2A1 | c.436G= (p.Ala146=) c.643G= (p.Ala215=) c.787G= (p.Ala263=) c.784G= (p.Ala262=) c.577G= (p.Ala193=) c.97G= (p.Ala33=) | |
| 12 | g.47995886C>G | CA384523865 | COL2A1 | c.436G>C (p.Ala146Pro) c.643G>C (p.Ala215Pro) c.787G>C (p.Ala263Pro) c.784G>C (p.Ala262Pro) c.577G>C (p.Ala193Pro) c.97G>C (p.Ala33Pro) | |
| 12 | g.47995886C>T | CA236491737 | COL2A1 | c.436G>A (p.Ala146Thr) c.643G>A (p.Ala215Thr) c.787G>A (p.Ala263Thr) c.784G>A (p.Ala262Thr) c.577G>A (p.Ala193Thr) c.97G>A (p.Ala33Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47995887A>C | CA479442082 | COL2A1 | c.435T>G (p.Pro145=) c.642T>G (p.Pro214=) c.786T>G (p.Pro262=) c.783T>G (p.Pro261=) c.576T>G (p.Pro192=) c.96T>G (p.Pro32=) | |
| 12 | g.47995887A>G | CA479442083 | COL2A1 | c.435T>C (p.Pro145=) c.642T>C (p.Pro214=) c.786T>C (p.Pro262=) c.783T>C (p.Pro261=) c.576T>C (p.Pro192=) c.96T>C (p.Pro32=) | ClinVar gnomAD v4 |
| 12 | g.47995887A>T | CA479442084 | COL2A1 | c.435T>A (p.Pro145=) c.642T>A (p.Pro214=) c.786T>A (p.Pro262=) c.783T>A (p.Pro261=) c.576T>A (p.Pro192=) c.96T>A (p.Pro32=) | |
| 12 | g.47995888G>A | CA384523868 | COL2A1 | c.434C>T (p.Pro145Leu) c.641C>T (p.Pro214Leu) c.785C>T (p.Pro262Leu) c.782C>T (p.Pro261Leu) c.575C>T (p.Pro192Leu) c.95C>T (p.Pro32Leu) | |
| 12 | g.47995888G>C | CA384523870 | COL2A1 | c.434C>G (p.Pro145Arg) c.641C>G (p.Pro214Arg) c.785C>G (p.Pro262Arg) c.782C>G (p.Pro261Arg) c.575C>G (p.Pro192Arg) c.95C>G (p.Pro32Arg) | |
| 12 | g.47995888G>T | CA384523872 | COL2A1 | c.434C>A (p.Pro145His) c.641C>A (p.Pro214His) c.785C>A (p.Pro262His) c.782C>A (p.Pro261His) c.575C>A (p.Pro192His) c.95C>A (p.Pro32His) | |
| 12 | g.47995889G>A | CA384523874 | COL2A1 | c.433C>T (p.Pro145Ser) c.640C>T (p.Pro214Ser) c.784C>T (p.Pro262Ser) c.781C>T (p.Pro261Ser) c.574C>T (p.Pro192Ser) c.94C>T (p.Pro32Ser) | |
| 12 | g.47995889G>C | CA384523875 | COL2A1 | c.433C>G (p.Pro145Ala) c.640C>G (p.Pro214Ala) c.784C>G (p.Pro262Ala) c.781C>G (p.Pro261Ala) c.574C>G (p.Pro192Ala) c.94C>G (p.Pro32Ala) | |
| 12 | g.47995889G>T | CA384523877 | COL2A1 | c.433C>A (p.Pro145Thr) c.640C>A (p.Pro214Thr) c.784C>A (p.Pro262Thr) c.781C>A (p.Pro261Thr) c.574C>A (p.Pro192Thr) c.94C>A (p.Pro32Thr) | |
| 12 | g.47995890G>A | CA236491739 | COL2A1 | c.432C>T (p.Gly144=) c.639C>T (p.Gly213=) c.783C>T (p.Gly261=) c.780C>T (p.Gly260=) c.573C>T (p.Gly191=) c.93C>T (p.Gly31=) | dbSNP gnomAD v4 |
| 12 | g.47995890G>C | CA479442085 | COL2A1 | c.432C>G (p.Gly144=) c.639C>G (p.Gly213=) c.783C>G (p.Gly261=) c.780C>G (p.Gly260=) c.573C>G (p.Gly191=) c.93C>G (p.Gly31=) | gnomAD v4 |
| 12 | g.47995890G= | CA2034479681 | COL2A1 | c.432C= (p.Gly144=) c.639C= (p.Gly213=) c.783C= (p.Gly261=) c.780C= (p.Gly260=) c.573C= (p.Gly191=) c.93C= (p.Gly31=) | |
| 12 | g.47995890G>T | CA479442086 | COL2A1 | c.432C>A (p.Gly144=) c.639C>A (p.Gly213=) c.783C>A (p.Gly261=) c.780C>A (p.Gly260=) c.573C>A (p.Gly191=) c.93C>A (p.Gly31=) | gnomAD v4 |
| 12 | g.47995891C>A | CA384523883 | COL2A1 | c.431G>T (p.Gly144Val) c.638G>T (p.Gly213Val) c.782G>T (p.Gly261Val) c.779G>T (p.Gly260Val) c.572G>T (p.Gly191Val) c.92G>T (p.Gly31Val) | |
| 12 | g.47995891C>G | CA384523880 | COL2A1 | c.431G>C (p.Gly144Ala) c.638G>C (p.Gly213Ala) c.782G>C (p.Gly261Ala) c.779G>C (p.Gly260Ala) c.572G>C (p.Gly191Ala) c.92G>C (p.Gly31Ala) | |
| 12 | g.47995891C>T | CA384523881 | COL2A1 | c.431G>A (p.Gly144Asp) c.638G>A (p.Gly213Asp) c.782G>A (p.Gly261Asp) c.779G>A (p.Gly260Asp) c.572G>A (p.Gly191Asp) c.92G>A (p.Gly31Asp) | ClinVar |
| 12 | g.47995892C>A | CA384523885 | COL2A1 | c.430G>T (p.Gly144Cys) c.637G>T (p.Gly213Cys) c.781G>T (p.Gly261Cys) c.778G>T (p.Gly260Cys) c.571G>T (p.Gly191Cys) c.91G>T (p.Gly31Cys) | |
| 12 | g.47995892C>G | CA384523886 | COL2A1 | c.430G>C (p.Gly144Arg) c.637G>C (p.Gly213Arg) c.781G>C (p.Gly261Arg) c.778G>C (p.Gly260Arg) c.571G>C (p.Gly191Arg) c.91G>C (p.Gly31Arg) | |
| 12 | g.47995892C>T | CA384523888 | COL2A1 | c.430G>A (p.Gly144Ser) c.637G>A (p.Gly213Ser) c.781G>A (p.Gly261Ser) c.778G>A (p.Gly260Ser) c.571G>A (p.Gly191Ser) c.91G>A (p.Gly31Ser) | |
| 12 | g.47995893T>A | CA479442087 | COL2A1 | c.429A>T (p.Pro143=) c.636A>T (p.Pro212=) c.780A>T (p.Pro260=) c.777A>T (p.Pro259=) c.570A>T (p.Pro190=) c.90A>T (p.Pro30=) | |
| 12 | g.47995893T>C | CA479442088 | COL2A1 | c.429A>G (p.Pro143=) c.636A>G (p.Pro212=) c.780A>G (p.Pro260=) c.777A>G (p.Pro259=) c.570A>G (p.Pro190=) c.90A>G (p.Pro30=) | |
| 12 | g.47995893T>G | CA479442089 | COL2A1 | c.429A>C (p.Pro143=) c.636A>C (p.Pro212=) c.780A>C (p.Pro260=) c.777A>C (p.Pro259=) c.570A>C (p.Pro190=) c.90A>C (p.Pro30=) | |
| 12 | g.47995893T= | CA2034479685 | COL2A1 | c.429A= (p.Pro143=) c.636A= (p.Pro212=) c.780A= (p.Pro260=) c.777A= (p.Pro259=) c.570A= (p.Pro190=) c.90A= (p.Pro30=) | |
| 12 | g.47995894G>A | CA384523891 | COL2A1 | c.428C>T (p.Pro143Leu) c.635C>T (p.Pro212Leu) c.779C>T (p.Pro260Leu) c.776C>T (p.Pro259Leu) c.569C>T (p.Pro190Leu) c.89C>T (p.Pro30Leu) | gnomAD v4 |
| 12 | g.47995894G>C | CA384523892 | COL2A1 | c.428C>G (p.Pro143Arg) c.635C>G (p.Pro212Arg) c.779C>G (p.Pro260Arg) c.776C>G (p.Pro259Arg) c.569C>G (p.Pro190Arg) c.89C>G (p.Pro30Arg) | gnomAD v4 |
| 12 | g.47995894G>T | CA384523894 | COL2A1 | c.428C>A (p.Pro143Gln) c.635C>A (p.Pro212Gln) c.779C>A (p.Pro260Gln) c.776C>A (p.Pro259Gln) c.569C>A (p.Pro190Gln) c.89C>A (p.Pro30Gln) | |
| 12 | g.47995895dup | CA1139662598 | COL2A1 | c.428dup (p.Gly144ArgfsTer17) c.635dup (p.Gly213ArgfsTer17) c.779dup (p.Gly261ArgfsTer17) c.776dup (p.Gly260ArgfsTer17) c.569dup (p.Gly191ArgfsTer17) c.89dup (p.Gly31ArgfsTer17) | ClinVar dbSNP |
| 12 | g.47995895G>A | CA384523896 | COL2A1 | c.427C>T (p.Pro143Ser) c.634C>T (p.Pro212Ser) c.778C>T (p.Pro260Ser) c.775C>T (p.Pro259Ser) c.568C>T (p.Pro190Ser) c.88C>T (p.Pro30Ser) | |
| 12 | g.47995895G>C | CA384523898 | COL2A1 | c.427C>G (p.Pro143Ala) c.634C>G (p.Pro212Ala) c.778C>G (p.Pro260Ala) c.775C>G (p.Pro259Ala) c.568C>G (p.Pro190Ala) c.88C>G (p.Pro30Ala) | gnomAD v4 |
| 12 | g.47995895G>T | CA384523900 | COL2A1 | c.427C>A (p.Pro143Thr) c.634C>A (p.Pro212Thr) c.778C>A (p.Pro260Thr) c.775C>A (p.Pro259Thr) c.568C>A (p.Pro190Thr) c.88C>A (p.Pro30Thr) | |
| 12 | g.47995902_47995910del | CA2618516297 | COL2A1 | c.419_427del (p.Arg140_Pro142del) c.626_634del (p.Arg209_Pro211del) c.770_778del (p.Arg257_Pro259del) c.767_775del (p.Arg256_Pro258del) c.560_568del (p.Arg187_Pro189del) c.80_88del (p.Arg27_Pro29del) | gnomAD v4 |