UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33167231C= | CA1619893112 | COL11A2 | n.143+33G= c.4176+33G= (n.4176+33G=) c.3855+33G= (n.3855+33G=) c.3918+33G= (n.3918+33G=) n.273-1415G= c.3330+33G= (n.3330+33G=) c.3462+33G= (n.3462+33G=) c.3282+33G= (n.3282+33G=) c.3219+33G= (n.3219+33G=) c.3063+33G= (n.3063+33G=) c.2994+33G= (n.2994+33G=) | |
| 6 | g.33167231C>T | CA1087648554 | COL11A2 | n.143+33G>A c.4176+33G>A (n.4176+33G>A) c.3855+33G>A (n.3855+33G>A) c.3918+33G>A (n.3918+33G>A) n.273-1415G>A c.3330+33G>A (n.3330+33G>A) c.3462+33G>A (n.3462+33G>A) c.3282+33G>A (n.3282+33G>A) c.3219+33G>A (n.3219+33G>A) c.3063+33G>A (n.3063+33G>A) c.2994+33G>A (n.2994+33G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167232A= | CA1619893114 | COL11A2 | n.143+32T= c.4176+32T= (n.4176+32T=) c.3855+32T= (n.3855+32T=) c.3918+32T= (n.3918+32T=) n.273-1416T= c.3330+32T= (n.3330+32T=) c.3462+32T= (n.3462+32T=) c.3282+32T= (n.3282+32T=) c.3219+32T= (n.3219+32T=) c.3063+32T= (n.3063+32T=) c.2994+32T= (n.2994+32T=) | |
| 6 | g.33167232A>T | CA1087648562 | COL11A2 | n.143+32T>A c.4176+32T>A (n.4176+32T>A) c.3855+32T>A (n.3855+32T>A) c.3918+32T>A (n.3918+32T>A) n.273-1416T>A c.3330+32T>A (n.3330+32T>A) c.3462+32T>A (n.3462+32T>A) c.3282+32T>A (n.3282+32T>A) c.3219+32T>A (n.3219+32T>A) c.3063+32T>A (n.3063+32T>A) c.2994+32T>A (n.2994+32T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167233C>A | CA2678227453 | COL11A2 | n.143+31G>T c.4176+31G>T (n.4176+31G>T) c.3855+31G>T (n.3855+31G>T) c.3918+31G>T (n.3918+31G>T) n.273-1417G>T c.3330+31G>T (n.3330+31G>T) c.3462+31G>T (n.3462+31G>T) c.3282+31G>T (n.3282+31G>T) c.3219+31G>T (n.3219+31G>T) c.3063+31G>T (n.3063+31G>T) c.2994+31G>T (n.2994+31G>T) | gnomAD v4 |
| 6 | g.33167233C>G | CA2678227452 | COL11A2 | n.143+31G>C c.4176+31G>C (n.4176+31G>C) c.3855+31G>C (n.3855+31G>C) c.3918+31G>C (n.3918+31G>C) n.273-1417G>C c.3330+31G>C (n.3330+31G>C) c.3462+31G>C (n.3462+31G>C) c.3282+31G>C (n.3282+31G>C) c.3219+31G>C (n.3219+31G>C) c.3063+31G>C (n.3063+31G>C) c.2994+31G>C (n.2994+31G>C) | gnomAD v4 |
| 6 | g.33167233C>T | CA2678227451 | COL11A2 | n.143+31G>A c.4176+31G>A (n.4176+31G>A) c.3855+31G>A (n.3855+31G>A) c.3918+31G>A (n.3918+31G>A) n.273-1417G>A c.3330+31G>A (n.3330+31G>A) c.3462+31G>A (n.3462+31G>A) c.3282+31G>A (n.3282+31G>A) c.3219+31G>A (n.3219+31G>A) c.3063+31G>A (n.3063+31G>A) c.2994+31G>A (n.2994+31G>A) | gnomAD v4 |
| 6 | g.33167234C= | CA1619893116 | COL11A2 | n.143+30G= c.4176+30G= (n.4176+30G=) c.3855+30G= (n.3855+30G=) c.3918+30G= (n.3918+30G=) n.273-1418G= c.3330+30G= (n.3330+30G=) c.3462+30G= (n.3462+30G=) c.3282+30G= (n.3282+30G=) c.3219+30G= (n.3219+30G=) c.3063+30G= (n.3063+30G=) c.2994+30G= (n.2994+30G=) | |
| 6 | g.33167234C>G | CA2678227454 | COL11A2 | n.143+30G>C c.4176+30G>C (n.4176+30G>C) c.3855+30G>C (n.3855+30G>C) c.3918+30G>C (n.3918+30G>C) n.273-1418G>C c.3330+30G>C (n.3330+30G>C) c.3462+30G>C (n.3462+30G>C) c.3282+30G>C (n.3282+30G>C) c.3219+30G>C (n.3219+30G>C) c.3063+30G>C (n.3063+30G>C) c.2994+30G>C (n.2994+30G>C) | gnomAD v4 |
| 6 | g.33167234C>T | CA3750203 | COL11A2 | n.143+30G>A c.4176+30G>A (n.4176+30G>A) c.3855+30G>A (n.3855+30G>A) c.3918+30G>A (n.3918+30G>A) n.273-1418G>A c.3330+30G>A (n.3330+30G>A) c.3462+30G>A (n.3462+30G>A) c.3282+30G>A (n.3282+30G>A) c.3219+30G>A (n.3219+30G>A) c.3063+30G>A (n.3063+30G>A) c.2994+30G>A (n.2994+30G>A) | dbSNP ExAC gnomAD v2 |
| 6 | g.33167236_33167255delinsCTCACTCAGCCCAATCCCAG | CA1619893118 | COL11A2 | n.143+9_143+28delinsCTGGGATTGGGCTGAGTGAG c.4176+9_4176+28delinsCTGGGATTGGGCTGAGTGAG (n.4176+9_4176+28delinsCTGGGATTGGGCTGAGTGAG) c.3855+9_3855+28delinsCTGGGATTGGGCTGAGTGAG (n.3855+9_3855+28delinsCTGGGATTGGGCTGAGTGAG) c.3918+9_3918+28delinsCTGGGATTGGGCTGAGTGAG (n.3918+9_3918+28delinsCTGGGATTGGGCTGAGTGAG) n.273-1439_273-1420delinsCTGGGATTGGGCTGAGTGAG c.3330+9_3330+28delinsCTGGGATTGGGCTGAGTGAG (n.3330+9_3330+28delinsCTGGGATTGGGCTGAGTGAG) c.3462+9_3462+28delinsCTGGGATTGGGCTGAGTGAG (n.3462+9_3462+28delinsCTGGGATTGGGCTGAGTGAG) c.3282+9_3282+28delinsCTGGGATTGGGCTGAGTGAG (n.3282+9_3282+28delinsCTGGGATTGGGCTGAGTGAG) c.3219+9_3219+28delinsCTGGGATTGGGCTGAGTGAG (n.3219+9_3219+28delinsCTGGGATTGGGCTGAGTGAG) c.3063+9_3063+28delinsCTGGGATTGGGCTGAGTGAG (n.3063+9_3063+28delinsCTGGGATTGGGCTGAGTGAG) c.2994+9_2994+28delinsCTGGGATTGGGCTGAGTGAG (n.2994+9_2994+28delinsCTGGGATTGGGCTGAGTGAG) | |
| 6 | g.33167237T>C | CA2678227455 | COL11A2 | n.143+27A>G c.4176+27A>G (n.4176+27A>G) c.3855+27A>G (n.3855+27A>G) c.3918+27A>G (n.3918+27A>G) n.273-1421A>G c.3330+27A>G (n.3330+27A>G) c.3462+27A>G (n.3462+27A>G) c.3282+27A>G (n.3282+27A>G) c.3219+27A>G (n.3219+27A>G) c.3063+27A>G (n.3063+27A>G) c.2994+27A>G (n.2994+27A>G) | gnomAD v4 |
| 6 | g.33167244_33167262del | CA1619893119 | COL11A2 | n.143+9_143+27del c.4176+9_4176+27del (n.4176+9_4176+27del) c.3855+9_3855+27del (n.3855+9_3855+27del) c.3918+9_3918+27del (n.3918+9_3918+27del) n.273-1439_273-1421del c.3330+9_3330+27del (n.3330+9_3330+27del) c.3462+9_3462+27del (n.3462+9_3462+27del) c.3282+9_3282+27del (n.3282+9_3282+27del) c.3219+9_3219+27del (n.3219+9_3219+27del) c.3063+9_3063+27del (n.3063+9_3063+27del) c.2994+9_2994+27del (n.2994+9_2994+27del) | dbSNP |
| 6 | g.33167240C= | CA1619893120 | COL11A2 | n.143+24G= c.4176+24G= (n.4176+24G=) c.3855+24G= (n.3855+24G=) c.3918+24G= (n.3918+24G=) n.273-1424G= c.3330+24G= (n.3330+24G=) c.3462+24G= (n.3462+24G=) c.3282+24G= (n.3282+24G=) c.3219+24G= (n.3219+24G=) c.3063+24G= (n.3063+24G=) c.2994+24G= (n.2994+24G=) | |
| 6 | g.33167240C>T | CA3750204 | COL11A2 | n.143+24G>A c.4176+24G>A (n.4176+24G>A) c.3855+24G>A (n.3855+24G>A) c.3918+24G>A (n.3918+24G>A) n.273-1424G>A c.3330+24G>A (n.3330+24G>A) c.3462+24G>A (n.3462+24G>A) c.3282+24G>A (n.3282+24G>A) c.3219+24G>A (n.3219+24G>A) c.3063+24G>A (n.3063+24G>A) c.2994+24G>A (n.2994+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33167241T>C | CA2711424959 | COL11A2 | n.143+23A>G c.4176+23A>G (n.4176+23A>G) c.3855+23A>G (n.3855+23A>G) c.3918+23A>G (n.3918+23A>G) n.273-1425A>G c.3330+23A>G (n.3330+23A>G) c.3462+23A>G (n.3462+23A>G) c.3282+23A>G (n.3282+23A>G) c.3219+23A>G (n.3219+23A>G) c.3063+23A>G (n.3063+23A>G) c.2994+23A>G (n.2994+23A>G) | dbSNP |
| 6 | g.33167242C= | CA1619893124 | COL11A2 | n.143+22G= c.4176+22G= (n.4176+22G=) c.3855+22G= (n.3855+22G=) c.3918+22G= (n.3918+22G=) n.273-1426G= c.3330+22G= (n.3330+22G=) c.3462+22G= (n.3462+22G=) c.3282+22G= (n.3282+22G=) c.3219+22G= (n.3219+22G=) c.3063+22G= (n.3063+22G=) c.2994+22G= (n.2994+22G=) | |
| 6 | g.33167242C>G | CA566425757 | COL11A2 | n.143+22G>C c.4176+22G>C (n.4176+22G>C) c.3855+22G>C (n.3855+22G>C) c.3918+22G>C (n.3918+22G>C) n.273-1426G>C c.3330+22G>C (n.3330+22G>C) c.3462+22G>C (n.3462+22G>C) c.3282+22G>C (n.3282+22G>C) c.3219+22G>C (n.3219+22G>C) c.3063+22G>C (n.3063+22G>C) c.2994+22G>C (n.2994+22G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33167243A>G | CA2678227456 | COL11A2 | n.143+21T>C c.4176+21T>C (n.4176+21T>C) c.3855+21T>C (n.3855+21T>C) c.3918+21T>C (n.3918+21T>C) n.273-1427T>C c.3330+21T>C (n.3330+21T>C) c.3462+21T>C (n.3462+21T>C) c.3282+21T>C (n.3282+21T>C) c.3219+21T>C (n.3219+21T>C) c.3063+21T>C (n.3063+21T>C) c.2994+21T>C (n.2994+21T>C) | gnomAD v4 |
| 6 | g.33167247C>T | CA2678227457 | COL11A2 | n.143+17G>A c.4176+17G>A (n.4176+17G>A) c.3855+17G>A (n.3855+17G>A) c.3918+17G>A (n.3918+17G>A) n.273-1431G>A c.3330+17G>A (n.3330+17G>A) c.3462+17G>A (n.3462+17G>A) c.3282+17G>A (n.3282+17G>A) c.3219+17G>A (n.3219+17G>A) c.3063+17G>A (n.3063+17G>A) c.2994+17G>A (n.2994+17G>A) | gnomAD v4 |
| 6 | g.33167249A>C | CA2580074323 | COL11A2 | n.143+15T>G c.4176+15T>G (n.4176+15T>G) c.3855+15T>G (n.3855+15T>G) c.3918+15T>G (n.3918+15T>G) n.273-1433T>G c.3330+15T>G (n.3330+15T>G) c.3462+15T>G (n.3462+15T>G) c.3282+15T>G (n.3282+15T>G) c.3219+15T>G (n.3219+15T>G) c.3063+15T>G (n.3063+15T>G) c.2994+15T>G (n.2994+15T>G) | ClinVar |
| 6 | g.33167251C= | CA1619893126 | COL11A2 | n.143+13G= c.4176+13G= (n.4176+13G=) c.3855+13G= (n.3855+13G=) c.3918+13G= (n.3918+13G=) n.273-1435G= c.3330+13G= (n.3330+13G=) c.3462+13G= (n.3462+13G=) c.3282+13G= (n.3282+13G=) c.3219+13G= (n.3219+13G=) c.3063+13G= (n.3063+13G=) c.2994+13G= (n.2994+13G=) | |
| 6 | g.33167251C>T | CA1619893127 | COL11A2 | n.143+13G>A c.4176+13G>A (n.4176+13G>A) c.3855+13G>A (n.3855+13G>A) c.3918+13G>A (n.3918+13G>A) n.273-1435G>A c.3330+13G>A (n.3330+13G>A) c.3462+13G>A (n.3462+13G>A) c.3282+13G>A (n.3282+13G>A) c.3219+13G>A (n.3219+13G>A) c.3063+13G>A (n.3063+13G>A) c.2994+13G>A (n.2994+13G>A) | dbSNP gnomAD v4 |
| 6 | g.33167252C= | CA1619893129 | COL11A2 | n.143+12G= c.4176+12G= (n.4176+12G=) c.3855+12G= (n.3855+12G=) c.3918+12G= (n.3918+12G=) n.273-1436G= c.3330+12G= (n.3330+12G=) c.3462+12G= (n.3462+12G=) c.3282+12G= (n.3282+12G=) c.3219+12G= (n.3219+12G=) c.3063+12G= (n.3063+12G=) c.2994+12G= (n.2994+12G=) | |
| 6 | g.33167252C>T | CA824032900 | COL11A2 | n.143+12G>A c.4176+12G>A (n.4176+12G>A) c.3855+12G>A (n.3855+12G>A) c.3918+12G>A (n.3918+12G>A) n.273-1436G>A c.3330+12G>A (n.3330+12G>A) c.3462+12G>A (n.3462+12G>A) c.3282+12G>A (n.3282+12G>A) c.3219+12G>A (n.3219+12G>A) c.3063+12G>A (n.3063+12G>A) c.2994+12G>A (n.2994+12G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167253C= | CA1619893131 | COL11A2 | n.143+11G= c.4176+11G= (n.4176+11G=) c.3855+11G= (n.3855+11G=) c.3918+11G= (n.3918+11G=) n.273-1437G= c.3330+11G= (n.3330+11G=) c.3462+11G= (n.3462+11G=) c.3282+11G= (n.3282+11G=) c.3219+11G= (n.3219+11G=) c.3063+11G= (n.3063+11G=) c.2994+11G= (n.2994+11G=) | |
| 6 | g.33167253C>T | CA566425758 | COL11A2 | n.143+11G>A c.4176+11G>A (n.4176+11G>A) c.3855+11G>A (n.3855+11G>A) c.3918+11G>A (n.3918+11G>A) n.273-1437G>A c.3330+11G>A (n.3330+11G>A) c.3462+11G>A (n.3462+11G>A) c.3282+11G>A (n.3282+11G>A) c.3219+11G>A (n.3219+11G>A) c.3063+11G>A (n.3063+11G>A) c.2994+11G>A (n.2994+11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33167254A>G | CA2678227458 | COL11A2 | n.143+10T>C c.4176+10T>C (n.4176+10T>C) c.3855+10T>C (n.3855+10T>C) c.3918+10T>C (n.3918+10T>C) n.273-1438T>C c.3330+10T>C (n.3330+10T>C) c.3462+10T>C (n.3462+10T>C) c.3282+10T>C (n.3282+10T>C) c.3219+10T>C (n.3219+10T>C) c.3063+10T>C (n.3063+10T>C) c.2994+10T>C (n.2994+10T>C) | gnomAD v4 |
| 6 | g.33167257C>A | CA566425759 | COL11A2 | n.143+7G>T c.4176+7G>T (n.4176+7G>T) c.3855+7G>T (n.3855+7G>T) c.3918+7G>T (n.3918+7G>T) n.273-1441G>T c.3330+7G>T (n.3330+7G>T) c.3462+7G>T (n.3462+7G>T) c.3282+7G>T (n.3282+7G>T) c.3219+7G>T (n.3219+7G>T) c.3063+7G>T (n.3063+7G>T) c.2994+7G>T (n.2994+7G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33167257C= | CA1619893134 | COL11A2 | n.143+7G= c.4176+7G= (n.4176+7G=) c.3855+7G= (n.3855+7G=) c.3918+7G= (n.3918+7G=) n.273-1441G= c.3330+7G= (n.3330+7G=) c.3462+7G= (n.3462+7G=) c.3282+7G= (n.3282+7G=) c.3219+7G= (n.3219+7G=) c.3063+7G= (n.3063+7G=) c.2994+7G= (n.2994+7G=) | |
| 6 | g.33167257C>T | CA2678227459 | COL11A2 | n.143+7G>A c.4176+7G>A (n.4176+7G>A) c.3855+7G>A (n.3855+7G>A) c.3918+7G>A (n.3918+7G>A) n.273-1441G>A c.3330+7G>A (n.3330+7G>A) c.3462+7G>A (n.3462+7G>A) c.3282+7G>A (n.3282+7G>A) c.3219+7G>A (n.3219+7G>A) c.3063+7G>A (n.3063+7G>A) c.2994+7G>A (n.2994+7G>A) | gnomAD v4 |
| 6 | g.33167259C>T | CA2678227460 | COL11A2 | n.143+5G>A c.4176+5G>A (n.4176+5G>A) c.3855+5G>A (n.3855+5G>A) c.3918+5G>A (n.3918+5G>A) n.273-1443G>A c.3330+5G>A (n.3330+5G>A) c.3462+5G>A (n.3462+5G>A) c.3282+5G>A (n.3282+5G>A) c.3219+5G>A (n.3219+5G>A) c.3063+5G>A (n.3063+5G>A) c.2994+5G>A (n.2994+5G>A) | gnomAD v4 |
| 6 | g.33167262A>C | CA363622366 | COL11A2 | n.143+2T>G c.4176+2T>G (n.4176+2T>G) c.3855+2T>G (n.3855+2T>G) c.3918+2T>G (n.3918+2T>G) n.273-1446T>G c.3330+2T>G (n.3330+2T>G) c.3462+2T>G (n.3462+2T>G) c.3282+2T>G (n.3282+2T>G) c.3219+2T>G (n.3219+2T>G) c.3063+2T>G (n.3063+2T>G) c.2994+2T>G (n.2994+2T>G) | |
| 6 | g.33167262A>G | CA363622379 | COL11A2 | n.143+2T>C c.4176+2T>C (n.4176+2T>C) c.3855+2T>C (n.3855+2T>C) c.3918+2T>C (n.3918+2T>C) n.273-1446T>C c.3330+2T>C (n.3330+2T>C) c.3462+2T>C (n.3462+2T>C) c.3282+2T>C (n.3282+2T>C) c.3219+2T>C (n.3219+2T>C) c.3063+2T>C (n.3063+2T>C) c.2994+2T>C (n.2994+2T>C) | |
| 6 | g.33167262A>T | CA363622373 | COL11A2 | n.143+2T>A c.4176+2T>A (n.4176+2T>A) c.3855+2T>A (n.3855+2T>A) c.3918+2T>A (n.3918+2T>A) n.273-1446T>A c.3330+2T>A (n.3330+2T>A) c.3462+2T>A (n.3462+2T>A) c.3282+2T>A (n.3282+2T>A) c.3219+2T>A (n.3219+2T>A) c.3063+2T>A (n.3063+2T>A) c.2994+2T>A (n.2994+2T>A) | |
| 6 | g.33167263C>A | CA363622383 | COL11A2 | n.143+1G>T c.4176+1G>T (n.4176+1G>T) c.3855+1G>T (n.3855+1G>T) c.3918+1G>T (n.3918+1G>T) n.273-1447G>T c.3330+1G>T (n.3330+1G>T) c.3462+1G>T (n.3462+1G>T) c.3282+1G>T (n.3282+1G>T) c.3219+1G>T (n.3219+1G>T) c.3063+1G>T (n.3063+1G>T) c.2994+1G>T (n.2994+1G>T) | |
| 6 | g.33167263C>G | CA363622385 | COL11A2 | n.143+1G>C c.4176+1G>C (n.4176+1G>C) c.3855+1G>C (n.3855+1G>C) c.3918+1G>C (n.3918+1G>C) n.273-1447G>C c.3330+1G>C (n.3330+1G>C) c.3462+1G>C (n.3462+1G>C) c.3282+1G>C (n.3282+1G>C) c.3219+1G>C (n.3219+1G>C) c.3063+1G>C (n.3063+1G>C) c.2994+1G>C (n.2994+1G>C) | |
| 6 | g.33167263C>T | CA363622386 | COL11A2 | n.143+1G>A c.4176+1G>A (n.4176+1G>A) c.3855+1G>A (n.3855+1G>A) c.3918+1G>A (n.3918+1G>A) n.273-1447G>A c.3330+1G>A (n.3330+1G>A) c.3462+1G>A (n.3462+1G>A) c.3282+1G>A (n.3282+1G>A) c.3219+1G>A (n.3219+1G>A) c.3063+1G>A (n.3063+1G>A) c.2994+1G>A (n.2994+1G>A) | |
| 6 | g.33167264C>A | CA449869232 | COL11A2 | n.143G>T c.4176G>T (p.Val1392=) c.3855G>T (p.Val1285=) c.3918G>T (p.Val1306=) n.273-1448G>T c.3330G>T (p.Val1110=) c.3462G>T (p.Val1154=) c.3282G>T (p.Val1094=) c.3219G>T (p.Val1073=) c.3063G>T (p.Val1021=) c.2994G>T (p.Val998=) | |
| 6 | g.33167264C>G | CA449869234 | COL11A2 | n.143G>C c.4176G>C (p.Val1392=) c.3855G>C (p.Val1285=) c.3918G>C (p.Val1306=) n.273-1448G>C c.3330G>C (p.Val1110=) c.3462G>C (p.Val1154=) c.3282G>C (p.Val1094=) c.3219G>C (p.Val1073=) c.3063G>C (p.Val1021=) c.2994G>C (p.Val998=) | |
| 6 | g.33167264C>T | CA449869235 | COL11A2 | n.143G>A c.4176G>A (p.Val1392=) c.3855G>A (p.Val1285=) c.3918G>A (p.Val1306=) n.273-1448G>A c.3330G>A (p.Val1110=) c.3462G>A (p.Val1154=) c.3282G>A (p.Val1094=) c.3219G>A (p.Val1073=) c.3063G>A (p.Val1021=) c.2994G>A (p.Val998=) | |
| 6 | g.33167265A>C | CA363622390 | COL11A2 | n.142T>G c.4175T>G (p.Val1392Gly) c.3854T>G (p.Val1285Gly) c.3917T>G (p.Val1306Gly) n.273-1449T>G c.3329T>G (p.Val1110Gly) c.3461T>G (p.Val1154Gly) c.3281T>G (p.Val1094Gly) c.3218T>G (p.Val1073Gly) c.3062T>G (p.Val1021Gly) c.2993T>G (p.Val998Gly) | |
| 6 | g.33167265A>G | CA363622392 | COL11A2 | n.142T>C c.4175T>C (p.Val1392Ala) c.3854T>C (p.Val1285Ala) c.3917T>C (p.Val1306Ala) n.273-1449T>C c.3329T>C (p.Val1110Ala) c.3461T>C (p.Val1154Ala) c.3281T>C (p.Val1094Ala) c.3218T>C (p.Val1073Ala) c.3062T>C (p.Val1021Ala) c.2993T>C (p.Val998Ala) | |
| 6 | g.33167265A>T | CA363622395 | COL11A2 | n.142T>A c.4175T>A (p.Val1392Glu) c.3854T>A (p.Val1285Glu) c.3917T>A (p.Val1306Glu) n.273-1449T>A c.3329T>A (p.Val1110Glu) c.3461T>A (p.Val1154Glu) c.3281T>A (p.Val1094Glu) c.3218T>A (p.Val1073Glu) c.3062T>A (p.Val1021Glu) c.2993T>A (p.Val998Glu) | |
| 6 | g.33167266C>A | CA363622400 | COL11A2 | n.141G>T c.4174G>T (p.Val1392Leu) c.3853G>T (p.Val1285Leu) c.3916G>T (p.Val1306Leu) n.273-1450G>T c.3328G>T (p.Val1110Leu) c.3460G>T (p.Val1154Leu) c.3280G>T (p.Val1094Leu) c.3217G>T (p.Val1073Leu) c.3061G>T (p.Val1021Leu) c.2992G>T (p.Val998Leu) | |
| 6 | g.33167266C= | CA1619893136 | COL11A2 | n.141G= c.4174G= (p.Val1392=) c.3853G= (p.Val1285=) c.3916G= (p.Val1306=) n.273-1450G= c.3328G= (p.Val1110=) c.3460G= (p.Val1154=) c.3280G= (p.Val1094=) c.3217G= (p.Val1073=) c.3061G= (p.Val1021=) c.2992G= (p.Val998=) | |
| 6 | g.33167266C>G | CA363622401 | COL11A2 | n.141G>C c.4174G>C (p.Val1392Leu) c.3853G>C (p.Val1285Leu) c.3916G>C (p.Val1306Leu) n.273-1450G>C c.3328G>C (p.Val1110Leu) c.3460G>C (p.Val1154Leu) c.3280G>C (p.Val1094Leu) c.3217G>C (p.Val1073Leu) c.3061G>C (p.Val1021Leu) c.2992G>C (p.Val998Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167266C>T | CA363622402 | COL11A2 | n.141G>A c.4174G>A (p.Val1392Met) c.3853G>A (p.Val1285Met) c.3916G>A (p.Val1306Met) n.273-1450G>A c.3328G>A (p.Val1110Met) c.3460G>A (p.Val1154Met) c.3280G>A (p.Val1094Met) c.3217G>A (p.Val1073Met) c.3061G>A (p.Val1021Met) c.2992G>A (p.Val998Met) | dbSNP |
| 6 | g.33167267A>C | CA449869241 | COL11A2 | n.140T>G c.4173T>G (p.Pro1391=) c.3852T>G (p.Pro1284=) c.3915T>G (p.Pro1305=) n.273-1451T>G c.3327T>G (p.Pro1109=) c.3459T>G (p.Pro1153=) c.3279T>G (p.Pro1093=) c.3216T>G (p.Pro1072=) c.3060T>G (p.Pro1020=) c.2991T>G (p.Pro997=) | |
| 6 | g.33167267A>G | CA449869244 | COL11A2 | n.140T>C c.4173T>C (p.Pro1391=) c.3852T>C (p.Pro1284=) c.3915T>C (p.Pro1305=) n.273-1451T>C c.3327T>C (p.Pro1109=) c.3459T>C (p.Pro1153=) c.3279T>C (p.Pro1093=) c.3216T>C (p.Pro1072=) c.3060T>C (p.Pro1020=) c.2991T>C (p.Pro997=) | |
| 6 | g.33167267A>T | CA449869243 | COL11A2 | n.140T>A c.4173T>A (p.Pro1391=) c.3852T>A (p.Pro1284=) c.3915T>A (p.Pro1305=) n.273-1451T>A c.3327T>A (p.Pro1109=) c.3459T>A (p.Pro1153=) c.3279T>A (p.Pro1093=) c.3216T>A (p.Pro1072=) c.3060T>A (p.Pro1020=) c.2991T>A (p.Pro997=) | gnomAD v4 |
| 6 | g.33167268G>A | CA363622404 | COL11A2 | n.139C>T c.4172C>T (p.Pro1391Leu) c.3851C>T (p.Pro1284Leu) c.3914C>T (p.Pro1305Leu) n.273-1452C>T c.3326C>T (p.Pro1109Leu) c.3458C>T (p.Pro1153Leu) c.3278C>T (p.Pro1093Leu) c.3215C>T (p.Pro1072Leu) c.3059C>T (p.Pro1020Leu) c.2990C>T (p.Pro997Leu) | |
| 6 | g.33167268G>C | CA363622408 | COL11A2 | n.139C>G c.4172C>G (p.Pro1391Arg) c.3851C>G (p.Pro1284Arg) c.3914C>G (p.Pro1305Arg) n.273-1452C>G c.3326C>G (p.Pro1109Arg) c.3458C>G (p.Pro1153Arg) c.3278C>G (p.Pro1093Arg) c.3215C>G (p.Pro1072Arg) c.3059C>G (p.Pro1020Arg) c.2990C>G (p.Pro997Arg) | |
| 6 | g.33167268G>T | CA363622409 | COL11A2 | n.139C>A c.4172C>A (p.Pro1391His) c.3851C>A (p.Pro1284His) c.3914C>A (p.Pro1305His) n.273-1452C>A c.3326C>A (p.Pro1109His) c.3458C>A (p.Pro1153His) c.3278C>A (p.Pro1093His) c.3215C>A (p.Pro1072His) c.3059C>A (p.Pro1020His) c.2990C>A (p.Pro997His) | |
| 6 | g.33167269G>A | CA363622411 | COL11A2 | n.138C>T c.4171C>T (p.Pro1391Ser) c.3850C>T (p.Pro1284Ser) c.3913C>T (p.Pro1305Ser) n.273-1453C>T c.3325C>T (p.Pro1109Ser) c.3457C>T (p.Pro1153Ser) c.3277C>T (p.Pro1093Ser) c.3214C>T (p.Pro1072Ser) c.3058C>T (p.Pro1020Ser) c.2989C>T (p.Pro997Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33167269G>C | CA363622412 | COL11A2 | n.138C>G c.4171C>G (p.Pro1391Ala) c.3850C>G (p.Pro1284Ala) c.3913C>G (p.Pro1305Ala) n.273-1453C>G c.3325C>G (p.Pro1109Ala) c.3457C>G (p.Pro1153Ala) c.3277C>G (p.Pro1093Ala) c.3214C>G (p.Pro1072Ala) c.3058C>G (p.Pro1020Ala) c.2989C>G (p.Pro997Ala) | |
| 6 | g.33167269G= | CA1619893143 | COL11A2 | n.138C= c.4171C= (p.Pro1391=) c.3850C= (p.Pro1284=) c.3913C= (p.Pro1305=) n.273-1453C= c.3325C= (p.Pro1109=) c.3457C= (p.Pro1153=) c.3277C= (p.Pro1093=) c.3214C= (p.Pro1072=) c.3058C= (p.Pro1020=) c.2989C= (p.Pro997=) | |
| 6 | g.33167269G>T | CA363622410 | COL11A2 | n.138C>A c.4171C>A (p.Pro1391Thr) c.3850C>A (p.Pro1284Thr) c.3913C>A (p.Pro1305Thr) n.273-1453C>A c.3325C>A (p.Pro1109Thr) c.3457C>A (p.Pro1153Thr) c.3277C>A (p.Pro1093Thr) c.3214C>A (p.Pro1072Thr) c.3058C>A (p.Pro1020Thr) c.2989C>A (p.Pro997Thr) | |
| 6 | g.33167270A= | CA1619893147 | COL11A2 | n.137T= c.4170T= (p.Gly1390=) c.3849T= (p.Gly1283=) c.3912T= (p.Gly1304=) n.273-1454T= c.3324T= (p.Gly1108=) c.3456T= (p.Gly1152=) c.3276T= (p.Gly1092=) c.3213T= (p.Gly1071=) c.3057T= (p.Gly1019=) c.2988T= (p.Gly996=) | |
| 6 | g.33167270A>C | CA449869250 | COL11A2 | n.137T>G c.4170T>G (p.Gly1390=) c.3849T>G (p.Gly1283=) c.3912T>G (p.Gly1304=) n.273-1454T>G c.3324T>G (p.Gly1108=) c.3456T>G (p.Gly1152=) c.3276T>G (p.Gly1092=) c.3213T>G (p.Gly1071=) c.3057T>G (p.Gly1019=) c.2988T>G (p.Gly996=) | |
| 6 | g.33167270A>G | CA137062941 | COL11A2 | n.137T>C c.4170T>C (p.Gly1390=) c.3849T>C (p.Gly1283=) c.3912T>C (p.Gly1304=) n.273-1454T>C c.3324T>C (p.Gly1108=) c.3456T>C (p.Gly1152=) c.3276T>C (p.Gly1092=) c.3213T>C (p.Gly1071=) c.3057T>C (p.Gly1019=) c.2988T>C (p.Gly996=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33167270A>T | CA449869251 | COL11A2 | n.137T>A c.4170T>A (p.Gly1390=) c.3849T>A (p.Gly1283=) c.3912T>A (p.Gly1304=) n.273-1454T>A c.3324T>A (p.Gly1108=) c.3456T>A (p.Gly1152=) c.3276T>A (p.Gly1092=) c.3213T>A (p.Gly1071=) c.3057T>A (p.Gly1019=) c.2988T>A (p.Gly996=) | |
| 6 | g.33167271C>A | CA363622422 | COL11A2 | n.136G>T c.4169G>T (p.Gly1390Val) c.3848G>T (p.Gly1283Val) c.3911G>T (p.Gly1304Val) n.273-1455G>T c.3323G>T (p.Gly1108Val) c.3455G>T (p.Gly1152Val) c.3275G>T (p.Gly1092Val) c.3212G>T (p.Gly1071Val) c.3056G>T (p.Gly1019Val) c.2987G>T (p.Gly996Val) | |
| 6 | g.33167271C>G | CA363622417 | COL11A2 | n.136G>C c.4169G>C (p.Gly1390Ala) c.3848G>C (p.Gly1283Ala) c.3911G>C (p.Gly1304Ala) n.273-1455G>C c.3323G>C (p.Gly1108Ala) c.3455G>C (p.Gly1152Ala) c.3275G>C (p.Gly1092Ala) c.3212G>C (p.Gly1071Ala) c.3056G>C (p.Gly1019Ala) c.2987G>C (p.Gly996Ala) | |
| 6 | g.33167271C>T | CA363622423 | COL11A2 | n.136G>A c.4169G>A (p.Gly1390Asp) c.3848G>A (p.Gly1283Asp) c.3911G>A (p.Gly1304Asp) n.273-1455G>A c.3323G>A (p.Gly1108Asp) c.3455G>A (p.Gly1152Asp) c.3275G>A (p.Gly1092Asp) c.3212G>A (p.Gly1071Asp) c.3056G>A (p.Gly1019Asp) c.2987G>A (p.Gly996Asp) | |
| 6 | g.33167272C>A | CA363622424 | COL11A2 | n.135G>T c.4168G>T (p.Gly1390Cys) c.3847G>T (p.Gly1283Cys) c.3910G>T (p.Gly1304Cys) n.273-1456G>T c.3322G>T (p.Gly1108Cys) c.3454G>T (p.Gly1152Cys) c.3274G>T (p.Gly1092Cys) c.3211G>T (p.Gly1071Cys) c.3055G>T (p.Gly1019Cys) c.2986G>T (p.Gly996Cys) | |
| 6 | g.33167272C>G | CA363622427 | COL11A2 | n.135G>C c.4168G>C (p.Gly1390Arg) c.3847G>C (p.Gly1283Arg) c.3910G>C (p.Gly1304Arg) n.273-1456G>C c.3322G>C (p.Gly1108Arg) c.3454G>C (p.Gly1152Arg) c.3274G>C (p.Gly1092Arg) c.3211G>C (p.Gly1071Arg) c.3055G>C (p.Gly1019Arg) c.2986G>C (p.Gly996Arg) | |
| 6 | g.33167272C>T | CA363622425 | COL11A2 | n.135G>A c.4168G>A (p.Gly1390Ser) c.3847G>A (p.Gly1283Ser) c.3910G>A (p.Gly1304Ser) n.273-1456G>A c.3322G>A (p.Gly1108Ser) c.3454G>A (p.Gly1152Ser) c.3274G>A (p.Gly1092Ser) c.3211G>A (p.Gly1071Ser) c.3055G>A (p.Gly1019Ser) c.2986G>A (p.Gly996Ser) | |
| 6 | g.33167273T>A | CA449869259 | COL11A2 | n.134A>T c.4167A>T (p.Pro1389=) c.3846A>T (p.Pro1282=) c.3909A>T (p.Pro1303=) n.273-1457A>T c.3321A>T (p.Pro1107=) c.3453A>T (p.Pro1151=) c.3273A>T (p.Pro1091=) c.3210A>T (p.Pro1070=) c.3054A>T (p.Pro1018=) c.2985A>T (p.Pro995=) | |
| 6 | g.33167273T>C | CA449869262 | COL11A2 | n.134A>G c.4167A>G (p.Pro1389=) c.3846A>G (p.Pro1282=) c.3909A>G (p.Pro1303=) n.273-1457A>G c.3321A>G (p.Pro1107=) c.3453A>G (p.Pro1151=) c.3273A>G (p.Pro1091=) c.3210A>G (p.Pro1070=) c.3054A>G (p.Pro1018=) c.2985A>G (p.Pro995=) | ClinVar |
| 6 | g.33167273T>G | CA449869261 | COL11A2 | n.134A>C c.4167A>C (p.Pro1389=) c.3846A>C (p.Pro1282=) c.3909A>C (p.Pro1303=) n.273-1457A>C c.3321A>C (p.Pro1107=) c.3453A>C (p.Pro1151=) c.3273A>C (p.Pro1091=) c.3210A>C (p.Pro1070=) c.3054A>C (p.Pro1018=) c.2985A>C (p.Pro995=) | |
| 6 | g.33167273_33167274delinsTG | CA1619893149 | COL11A2 | n.133_134delinsCA c.4166_4167delinsCA (p.Pro1389=) c.3845_3846delinsCA (p.Pro1282=) c.3908_3909delinsCA (p.Pro1303=) n.273-1458_273-1457delinsCA c.3320_3321delinsCA (p.Pro1107=) c.3452_3453delinsCA (p.Pro1151=) c.3272_3273delinsCA (p.Pro1091=) c.3209_3210delinsCA (p.Pro1070=) c.3053_3054delinsCA (p.Pro1018=) c.2984_2985delinsCA (p.Pro995=) | |
| 6 | g.33167274G>A | CA3750205 | COL11A2 | n.133C>T c.4166C>T (p.Pro1389Leu) c.3845C>T (p.Pro1282Leu) c.3908C>T (p.Pro1303Leu) n.273-1458C>T c.3320C>T (p.Pro1107Leu) c.3452C>T (p.Pro1151Leu) c.3272C>T (p.Pro1091Leu) c.3209C>T (p.Pro1070Leu) c.3053C>T (p.Pro1018Leu) c.2984C>T (p.Pro995Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33167274G>C | CA363622434 | COL11A2 | n.133C>G c.4166C>G (p.Pro1389Arg) c.3845C>G (p.Pro1282Arg) c.3908C>G (p.Pro1303Arg) n.273-1458C>G c.3320C>G (p.Pro1107Arg) c.3452C>G (p.Pro1151Arg) c.3272C>G (p.Pro1091Arg) c.3209C>G (p.Pro1070Arg) c.3053C>G (p.Pro1018Arg) c.2984C>G (p.Pro995Arg) | gnomAD v4 |
| 6 | g.33167274G= | CA1619893155 | COL11A2 | n.133C= c.4166C= (p.Pro1389=) c.3845C= (p.Pro1282=) c.3908C= (p.Pro1303=) n.273-1458C= c.3320C= (p.Pro1107=) c.3452C= (p.Pro1151=) c.3272C= (p.Pro1091=) c.3209C= (p.Pro1070=) c.3053C= (p.Pro1018=) c.2984C= (p.Pro995=) | |
| 6 | g.33167274G>T | CA363622439 | COL11A2 | n.133C>A c.4166C>A (p.Pro1389Gln) c.3845C>A (p.Pro1282Gln) c.3908C>A (p.Pro1303Gln) n.273-1458C>A c.3320C>A (p.Pro1107Gln) c.3452C>A (p.Pro1151Gln) c.3272C>A (p.Pro1091Gln) c.3209C>A (p.Pro1070Gln) c.3053C>A (p.Pro1018Gln) c.2984C>A (p.Pro995Gln) | |
| 6 | g.33167278del | CA566425760 | COL11A2 | n.133del c.4166del (p.Pro1389GlnfsTer30) c.3845del (p.Pro1282GlnfsTer30) c.3908del (p.Pro1303GlnfsTer30) n.273-1458del c.3320del (p.Pro1107GlnfsTer30) c.3452del (p.Pro1151GlnfsTer30) c.3272del (p.Pro1091GlnfsTer30) c.3209del (p.Pro1070GlnfsTer30) c.3053del (p.Pro1018GlnfsTer30) c.2984del (p.Pro995GlnfsTer30) | dbSNP gnomAD v2 |
| 6 | g.33167275G>A | CA363622467 | COL11A2 | n.132C>T c.4165C>T (p.Pro1389Ser) c.3844C>T (p.Pro1282Ser) c.3907C>T (p.Pro1303Ser) n.273-1459C>T c.3319C>T (p.Pro1107Ser) c.3451C>T (p.Pro1151Ser) c.3271C>T (p.Pro1091Ser) c.3208C>T (p.Pro1070Ser) c.3052C>T (p.Pro1018Ser) c.2983C>T (p.Pro995Ser) | gnomAD v4 |
| 6 | g.33167275G>C | CA363622471 | COL11A2 | n.132C>G c.4165C>G (p.Pro1389Ala) c.3844C>G (p.Pro1282Ala) c.3907C>G (p.Pro1303Ala) n.273-1459C>G c.3319C>G (p.Pro1107Ala) c.3451C>G (p.Pro1151Ala) c.3271C>G (p.Pro1091Ala) c.3208C>G (p.Pro1070Ala) c.3052C>G (p.Pro1018Ala) c.2983C>G (p.Pro995Ala) | |
| 6 | g.33167275G>T | CA363622478 | COL11A2 | n.132C>A c.4165C>A (p.Pro1389Thr) c.3844C>A (p.Pro1282Thr) c.3907C>A (p.Pro1303Thr) n.273-1459C>A c.3319C>A (p.Pro1107Thr) c.3451C>A (p.Pro1151Thr) c.3271C>A (p.Pro1091Thr) c.3208C>A (p.Pro1070Thr) c.3052C>A (p.Pro1018Thr) c.2983C>A (p.Pro995Thr) | |
| 6 | g.33167276G>A | CA449869266 | COL11A2 | n.131C>T c.4164C>T (p.Pro1388=) c.3843C>T (p.Pro1281=) c.3906C>T (p.Pro1302=) n.273-1460C>T c.3318C>T (p.Pro1106=) c.3450C>T (p.Pro1150=) c.3270C>T (p.Pro1090=) c.3207C>T (p.Pro1069=) c.3051C>T (p.Pro1017=) c.2982C>T (p.Pro994=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33167276G>C | CA449869267 | COL11A2 | n.131C>G c.4164C>G (p.Pro1388=) c.3843C>G (p.Pro1281=) c.3906C>G (p.Pro1302=) n.273-1460C>G c.3318C>G (p.Pro1106=) c.3450C>G (p.Pro1150=) c.3270C>G (p.Pro1090=) c.3207C>G (p.Pro1069=) c.3051C>G (p.Pro1017=) c.2982C>G (p.Pro994=) | |
| 6 | g.33167276G= | CA1619893159 | COL11A2 | n.131C= c.4164C= (p.Pro1388=) c.3843C= (p.Pro1281=) c.3906C= (p.Pro1302=) n.273-1460C= c.3318C= (p.Pro1106=) c.3450C= (p.Pro1150=) c.3270C= (p.Pro1090=) c.3207C= (p.Pro1069=) c.3051C= (p.Pro1017=) c.2982C= (p.Pro994=) | |
| 6 | g.33167276G>T | CA449869268 | COL11A2 | n.131C>A c.4164C>A (p.Pro1388=) c.3843C>A (p.Pro1281=) c.3906C>A (p.Pro1302=) n.273-1460C>A c.3318C>A (p.Pro1106=) c.3450C>A (p.Pro1150=) c.3270C>A (p.Pro1090=) c.3207C>A (p.Pro1069=) c.3051C>A (p.Pro1017=) c.2982C>A (p.Pro994=) | |
| 6 | g.33167277G>A | CA363622491 | COL11A2 | n.130C>T c.4163C>T (p.Pro1388Leu) c.3842C>T (p.Pro1281Leu) c.3905C>T (p.Pro1302Leu) n.273-1461C>T c.3317C>T (p.Pro1106Leu) c.3449C>T (p.Pro1150Leu) c.3269C>T (p.Pro1090Leu) c.3206C>T (p.Pro1069Leu) c.3050C>T (p.Pro1017Leu) c.2981C>T (p.Pro994Leu) | |
| 6 | g.33167277G>C | CA363622487 | COL11A2 | n.130C>G c.4163C>G (p.Pro1388Arg) c.3842C>G (p.Pro1281Arg) c.3905C>G (p.Pro1302Arg) n.273-1461C>G c.3317C>G (p.Pro1106Arg) c.3449C>G (p.Pro1150Arg) c.3269C>G (p.Pro1090Arg) c.3206C>G (p.Pro1069Arg) c.3050C>G (p.Pro1017Arg) c.2981C>G (p.Pro994Arg) | |
| 6 | g.33167277G>T | CA363622483 | COL11A2 | n.130C>A c.4163C>A (p.Pro1388His) c.3842C>A (p.Pro1281His) c.3905C>A (p.Pro1302His) n.273-1461C>A c.3317C>A (p.Pro1106His) c.3449C>A (p.Pro1150His) c.3269C>A (p.Pro1090His) c.3206C>A (p.Pro1069His) c.3050C>A (p.Pro1017His) c.2981C>A (p.Pro994His) | |
| 6 | g.33167278G>A | CA363622496 | COL11A2 | n.129C>T c.4162C>T (p.Pro1388Ser) c.3841C>T (p.Pro1281Ser) c.3904C>T (p.Pro1302Ser) n.273-1462C>T c.3316C>T (p.Pro1106Ser) c.3448C>T (p.Pro1150Ser) c.3268C>T (p.Pro1090Ser) c.3205C>T (p.Pro1069Ser) c.3049C>T (p.Pro1017Ser) c.2980C>T (p.Pro994Ser) | |
| 6 | g.33167278G>C | CA363622497 | COL11A2 | n.129C>G c.4162C>G (p.Pro1388Ala) c.3841C>G (p.Pro1281Ala) c.3904C>G (p.Pro1302Ala) n.273-1462C>G c.3316C>G (p.Pro1106Ala) c.3448C>G (p.Pro1150Ala) c.3268C>G (p.Pro1090Ala) c.3205C>G (p.Pro1069Ala) c.3049C>G (p.Pro1017Ala) c.2980C>G (p.Pro994Ala) | |
| 6 | g.33167278G= | CA1619893164 | COL11A2 | n.129C= c.4162C= (p.Pro1388=) c.3841C= (p.Pro1281=) c.3904C= (p.Pro1302=) n.273-1462C= c.3316C= (p.Pro1106=) c.3448C= (p.Pro1150=) c.3268C= (p.Pro1090=) c.3205C= (p.Pro1069=) c.3049C= (p.Pro1017=) c.2980C= (p.Pro994=) | |
| 6 | g.33167278G>T | CA363622499 | COL11A2 | n.129C>A c.4162C>A (p.Pro1388Thr) c.3841C>A (p.Pro1281Thr) c.3904C>A (p.Pro1302Thr) n.273-1462C>A c.3316C>A (p.Pro1106Thr) c.3448C>A (p.Pro1150Thr) c.3268C>A (p.Pro1090Thr) c.3205C>A (p.Pro1069Thr) c.3049C>A (p.Pro1017Thr) c.2980C>A (p.Pro994Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167279C>A | CA449869270 | COL11A2 | n.128G>T c.4161G>T (p.Gly1387=) c.3840G>T (p.Gly1280=) c.3903G>T (p.Gly1301=) n.273-1463G>T c.3315G>T (p.Gly1105=) c.3447G>T (p.Gly1149=) c.3267G>T (p.Gly1089=) c.3204G>T (p.Gly1068=) c.3048G>T (p.Gly1016=) c.2979G>T (p.Gly993=) | |
| 6 | g.33167279C>G | CA449869271 | COL11A2 | n.128G>C c.4161G>C (p.Gly1387=) c.3840G>C (p.Gly1280=) c.3903G>C (p.Gly1301=) n.273-1463G>C c.3315G>C (p.Gly1105=) c.3447G>C (p.Gly1149=) c.3267G>C (p.Gly1089=) c.3204G>C (p.Gly1068=) c.3048G>C (p.Gly1016=) c.2979G>C (p.Gly993=) | |
| 6 | g.33167279C>T | CA449869272 | COL11A2 | n.128G>A c.4161G>A (p.Gly1387=) c.3840G>A (p.Gly1280=) c.3903G>A (p.Gly1301=) n.273-1463G>A c.3315G>A (p.Gly1105=) c.3447G>A (p.Gly1149=) c.3267G>A (p.Gly1089=) c.3204G>A (p.Gly1068=) c.3048G>A (p.Gly1016=) c.2979G>A (p.Gly993=) | gnomAD v4 |
| 6 | g.33167280C>A | CA363622502 | COL11A2 | n.127G>T c.4160G>T (p.Gly1387Val) c.3839G>T (p.Gly1280Val) c.3902G>T (p.Gly1301Val) n.273-1464G>T c.3314G>T (p.Gly1105Val) c.3446G>T (p.Gly1149Val) c.3266G>T (p.Gly1089Val) c.3203G>T (p.Gly1068Val) c.3047G>T (p.Gly1016Val) c.2978G>T (p.Gly993Val) | |
| 6 | g.33167280C>G | CA363622505 | COL11A2 | n.127G>C c.4160G>C (p.Gly1387Ala) c.3839G>C (p.Gly1280Ala) c.3902G>C (p.Gly1301Ala) n.273-1464G>C c.3314G>C (p.Gly1105Ala) c.3446G>C (p.Gly1149Ala) c.3266G>C (p.Gly1089Ala) c.3203G>C (p.Gly1068Ala) c.3047G>C (p.Gly1016Ala) c.2978G>C (p.Gly993Ala) | |
| 6 | g.33167280C>T | CA363622509 | COL11A2 | n.127G>A c.4160G>A (p.Gly1387Glu) c.3839G>A (p.Gly1280Glu) c.3902G>A (p.Gly1301Glu) n.273-1464G>A c.3314G>A (p.Gly1105Glu) c.3446G>A (p.Gly1149Glu) c.3266G>A (p.Gly1089Glu) c.3203G>A (p.Gly1068Glu) c.3047G>A (p.Gly1016Glu) c.2978G>A (p.Gly993Glu) | |
| 6 | g.33167281C>A | CA363622512 | COL11A2 | n.126G>T c.4159G>T (p.Gly1387Trp) c.3838G>T (p.Gly1280Trp) c.3901G>T (p.Gly1301Trp) n.273-1465G>T c.3313G>T (p.Gly1105Trp) c.3445G>T (p.Gly1149Trp) c.3265G>T (p.Gly1089Trp) c.3202G>T (p.Gly1068Trp) c.3046G>T (p.Gly1016Trp) c.2977G>T (p.Gly993Trp) | gnomAD v4 |
| 6 | g.33167281C= | CA1619893167 | COL11A2 | n.126G= c.4159G= (p.Gly1387=) c.3838G= (p.Gly1280=) c.3901G= (p.Gly1301=) n.273-1465G= c.3313G= (p.Gly1105=) c.3445G= (p.Gly1149=) c.3265G= (p.Gly1089=) c.3202G= (p.Gly1068=) c.3046G= (p.Gly1016=) c.2977G= (p.Gly993=) | |
| 6 | g.33167281C>G | CA363622528 | COL11A2 | n.126G>C c.4159G>C (p.Gly1387Arg) c.3838G>C (p.Gly1280Arg) c.3901G>C (p.Gly1301Arg) n.273-1465G>C c.3313G>C (p.Gly1105Arg) c.3445G>C (p.Gly1149Arg) c.3265G>C (p.Gly1089Arg) c.3202G>C (p.Gly1068Arg) c.3046G>C (p.Gly1016Arg) c.2977G>C (p.Gly993Arg) | |
| 6 | g.33167281C>T | CA363622524 | COL11A2 | n.126G>A c.4159G>A (p.Gly1387Arg) c.3838G>A (p.Gly1280Arg) c.3901G>A (p.Gly1301Arg) n.273-1465G>A c.3313G>A (p.Gly1105Arg) c.3445G>A (p.Gly1149Arg) c.3265G>A (p.Gly1089Arg) c.3202G>A (p.Gly1068Arg) c.3046G>A (p.Gly1016Arg) c.2977G>A (p.Gly993Arg) | dbSNP gnomAD v4 |
| 6 | g.33167282A>C | CA449869278 | COL11A2 | n.125T>G c.4158T>G (p.Ala1386=) c.3837T>G (p.Ala1279=) c.3900T>G (p.Ala1300=) n.273-1466T>G c.3312T>G (p.Ala1104=) c.3444T>G (p.Ala1148=) c.3264T>G (p.Ala1088=) c.3201T>G (p.Ala1067=) c.3045T>G (p.Ala1015=) c.2976T>G (p.Ala992=) | |
| 6 | g.33167282A>G | CA449869276 | COL11A2 | n.125T>C c.4158T>C (p.Ala1386=) c.3837T>C (p.Ala1279=) c.3900T>C (p.Ala1300=) n.273-1466T>C c.3312T>C (p.Ala1104=) c.3444T>C (p.Ala1148=) c.3264T>C (p.Ala1088=) c.3201T>C (p.Ala1067=) c.3045T>C (p.Ala1015=) c.2976T>C (p.Ala992=) | |
| 6 | g.33167282A>T | CA449869277 | COL11A2 | n.125T>A c.4158T>A (p.Ala1386=) c.3837T>A (p.Ala1279=) c.3900T>A (p.Ala1300=) n.273-1466T>A c.3312T>A (p.Ala1104=) c.3444T>A (p.Ala1148=) c.3264T>A (p.Ala1088=) c.3201T>A (p.Ala1067=) c.3045T>A (p.Ala1015=) c.2976T>A (p.Ala992=) | |
| 6 | g.33167283G>A | CA363622534 | COL11A2 | n.124C>T c.4157C>T (p.Ala1386Val) c.3836C>T (p.Ala1279Val) c.3899C>T (p.Ala1300Val) n.273-1467C>T c.3311C>T (p.Ala1104Val) c.3443C>T (p.Ala1148Val) c.3263C>T (p.Ala1088Val) c.3200C>T (p.Ala1067Val) c.3044C>T (p.Ala1015Val) c.2975C>T (p.Ala992Val) | |
| 6 | g.33167283G>C | CA363622536 | COL11A2 | n.124C>G c.4157C>G (p.Ala1386Gly) c.3836C>G (p.Ala1279Gly) c.3899C>G (p.Ala1300Gly) n.273-1467C>G c.3311C>G (p.Ala1104Gly) c.3443C>G (p.Ala1148Gly) c.3263C>G (p.Ala1088Gly) c.3200C>G (p.Ala1067Gly) c.3044C>G (p.Ala1015Gly) c.2975C>G (p.Ala992Gly) | |
| 6 | g.33167283G>T | CA363622540 | COL11A2 | n.124C>A c.4157C>A (p.Ala1386Asp) c.3836C>A (p.Ala1279Asp) c.3899C>A (p.Ala1300Asp) n.273-1467C>A c.3311C>A (p.Ala1104Asp) c.3443C>A (p.Ala1148Asp) c.3263C>A (p.Ala1088Asp) c.3200C>A (p.Ala1067Asp) c.3044C>A (p.Ala1015Asp) c.2975C>A (p.Ala992Asp) | |
| 6 | g.33167284C>A | CA363622541 | COL11A2 | n.123G>T c.4156G>T (p.Ala1386Ser) c.3835G>T (p.Ala1279Ser) c.3898G>T (p.Ala1300Ser) n.273-1468G>T c.3310G>T (p.Ala1104Ser) c.3442G>T (p.Ala1148Ser) c.3262G>T (p.Ala1088Ser) c.3199G>T (p.Ala1067Ser) c.3043G>T (p.Ala1015Ser) c.2974G>T (p.Ala992Ser) | |
| 6 | g.33167284C= | CA1619893170 | COL11A2 | n.123G= c.4156G= (p.Ala1386=) c.3835G= (p.Ala1279=) c.3898G= (p.Ala1300=) n.273-1468G= c.3310G= (p.Ala1104=) c.3442G= (p.Ala1148=) c.3262G= (p.Ala1088=) c.3199G= (p.Ala1067=) c.3043G= (p.Ala1015=) c.2974G= (p.Ala992=) | |
| 6 | g.33167284C>G | CA363622542 | COL11A2 | n.123G>C c.4156G>C (p.Ala1386Pro) c.3835G>C (p.Ala1279Pro) c.3898G>C (p.Ala1300Pro) n.273-1468G>C c.3310G>C (p.Ala1104Pro) c.3442G>C (p.Ala1148Pro) c.3262G>C (p.Ala1088Pro) c.3199G>C (p.Ala1067Pro) c.3043G>C (p.Ala1015Pro) c.2974G>C (p.Ala992Pro) | dbSNP gnomAD v4 |
| 6 | g.33167284C>T | CA363622545 | COL11A2 | n.123G>A c.4156G>A (p.Ala1386Thr) c.3835G>A (p.Ala1279Thr) c.3898G>A (p.Ala1300Thr) n.273-1468G>A c.3310G>A (p.Ala1104Thr) c.3442G>A (p.Ala1148Thr) c.3262G>A (p.Ala1088Thr) c.3199G>A (p.Ala1067Thr) c.3043G>A (p.Ala1015Thr) c.2974G>A (p.Ala992Thr) | gnomAD v4 |
| 6 | g.33167285C>A | CA363622551 | COL11A2 | n.122G>T c.4155G>T (p.Gln1385His) c.3834G>T (p.Gln1278His) c.3897G>T (p.Gln1299His) n.273-1469G>T c.3309G>T (p.Gln1103His) c.3441G>T (p.Gln1147His) c.3261G>T (p.Gln1087His) c.3198G>T (p.Gln1066His) c.3042G>T (p.Gln1014His) c.2973G>T (p.Gln991His) | |
| 6 | g.33167285C>G | CA363622553 | COL11A2 | n.122G>C c.4155G>C (p.Gln1385His) c.3834G>C (p.Gln1278His) c.3897G>C (p.Gln1299His) n.273-1469G>C c.3309G>C (p.Gln1103His) c.3441G>C (p.Gln1147His) c.3261G>C (p.Gln1087His) c.3198G>C (p.Gln1066His) c.3042G>C (p.Gln1014His) c.2973G>C (p.Gln991His) | |
| 6 | g.33167285C>T | CA449869280 | COL11A2 | n.122G>A c.4155G>A (p.Gln1385=) c.3834G>A (p.Gln1278=) c.3897G>A (p.Gln1299=) n.273-1469G>A c.3309G>A (p.Gln1103=) c.3441G>A (p.Gln1147=) c.3261G>A (p.Gln1087=) c.3198G>A (p.Gln1066=) c.3042G>A (p.Gln1014=) c.2973G>A (p.Gln991=) | |
| 6 | g.33167286T>A | CA363622554 | COL11A2 | n.121A>T c.4154A>T (p.Gln1385Leu) c.3833A>T (p.Gln1278Leu) c.3896A>T (p.Gln1299Leu) n.273-1470A>T c.3308A>T (p.Gln1103Leu) c.3440A>T (p.Gln1147Leu) c.3260A>T (p.Gln1087Leu) c.3197A>T (p.Gln1066Leu) c.3041A>T (p.Gln1014Leu) c.2972A>T (p.Gln991Leu) | |
| 6 | g.33167286T>C | CA363622555 | COL11A2 | n.121A>G c.4154A>G (p.Gln1385Arg) c.3833A>G (p.Gln1278Arg) c.3896A>G (p.Gln1299Arg) n.273-1470A>G c.3308A>G (p.Gln1103Arg) c.3440A>G (p.Gln1147Arg) c.3260A>G (p.Gln1087Arg) c.3197A>G (p.Gln1066Arg) c.3041A>G (p.Gln1014Arg) c.2972A>G (p.Gln991Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167286T>G | CA363622557 | COL11A2 | n.121A>C c.4154A>C (p.Gln1385Pro) c.3833A>C (p.Gln1278Pro) c.3896A>C (p.Gln1299Pro) n.273-1470A>C c.3308A>C (p.Gln1103Pro) c.3440A>C (p.Gln1147Pro) c.3260A>C (p.Gln1087Pro) c.3197A>C (p.Gln1066Pro) c.3041A>C (p.Gln1014Pro) c.2972A>C (p.Gln991Pro) | |
| 6 | g.33167286T= | CA1619893174 | COL11A2 | n.121A= c.4154A= (p.Gln1385=) c.3833A= (p.Gln1278=) c.3896A= (p.Gln1299=) n.273-1470A= c.3308A= (p.Gln1103=) c.3440A= (p.Gln1147=) c.3260A= (p.Gln1087=) c.3197A= (p.Gln1066=) c.3041A= (p.Gln1014=) c.2972A= (p.Gln991=) | |
| 6 | g.33167287G>A | CA363622572 | COL11A2 | n.120C>T c.4153C>T (p.Gln1385Ter) c.3832C>T (p.Gln1278Ter) c.3895C>T (p.Gln1299Ter) n.273-1471C>T c.3307C>T (p.Gln1103Ter) c.3439C>T (p.Gln1147Ter) c.3259C>T (p.Gln1087Ter) c.3196C>T (p.Gln1066Ter) c.3040C>T (p.Gln1014Ter) c.2971C>T (p.Gln991Ter) | gnomAD v4 |
| 6 | g.33167287G>C | CA363622561 | COL11A2 | n.120C>G c.4153C>G (p.Gln1385Glu) c.3832C>G (p.Gln1278Glu) c.3895C>G (p.Gln1299Glu) n.273-1471C>G c.3307C>G (p.Gln1103Glu) c.3439C>G (p.Gln1147Glu) c.3259C>G (p.Gln1087Glu) c.3196C>G (p.Gln1066Glu) c.3040C>G (p.Gln1014Glu) c.2971C>G (p.Gln991Glu) | |
| 6 | g.33167287G>T | CA363622568 | COL11A2 | n.120C>A c.4153C>A (p.Gln1385Lys) c.3832C>A (p.Gln1278Lys) c.3895C>A (p.Gln1299Lys) n.273-1471C>A c.3307C>A (p.Gln1103Lys) c.3439C>A (p.Gln1147Lys) c.3259C>A (p.Gln1087Lys) c.3196C>A (p.Gln1066Lys) c.3040C>A (p.Gln1014Lys) c.2971C>A (p.Gln991Lys) | |
| 6 | g.33167288G>A | CA449869282 | COL11A2 | n.119C>T c.4152C>T (p.Gly1384=) c.3831C>T (p.Gly1277=) c.3894C>T (p.Gly1298=) n.273-1472C>T c.3306C>T (p.Gly1102=) c.3438C>T (p.Gly1146=) c.3258C>T (p.Gly1086=) c.3195C>T (p.Gly1065=) c.3039C>T (p.Gly1013=) c.2970C>T (p.Gly990=) | gnomAD v4 |
| 6 | g.33167288G>C | CA449869283 | COL11A2 | n.119C>G c.4152C>G (p.Gly1384=) c.3831C>G (p.Gly1277=) c.3894C>G (p.Gly1298=) n.273-1472C>G c.3306C>G (p.Gly1102=) c.3438C>G (p.Gly1146=) c.3258C>G (p.Gly1086=) c.3195C>G (p.Gly1065=) c.3039C>G (p.Gly1013=) c.2970C>G (p.Gly990=) | |
| 6 | g.33167288G>T | CA449869284 | COL11A2 | n.119C>A c.4152C>A (p.Gly1384=) c.3831C>A (p.Gly1277=) c.3894C>A (p.Gly1298=) n.273-1472C>A c.3306C>A (p.Gly1102=) c.3438C>A (p.Gly1146=) c.3258C>A (p.Gly1086=) c.3195C>A (p.Gly1065=) c.3039C>A (p.Gly1013=) c.2970C>A (p.Gly990=) | |
| 6 | g.33167289C>A | CA363622576 | COL11A2 | n.118G>T c.4151G>T (p.Gly1384Val) c.3830G>T (p.Gly1277Val) c.3893G>T (p.Gly1298Val) n.273-1473G>T c.3305G>T (p.Gly1102Val) c.3437G>T (p.Gly1146Val) c.3257G>T (p.Gly1086Val) c.3194G>T (p.Gly1065Val) c.3038G>T (p.Gly1013Val) c.2969G>T (p.Gly990Val) | |
| 6 | g.33167289C>G | CA363622593 | COL11A2 | n.118G>C c.4151G>C (p.Gly1384Ala) c.3830G>C (p.Gly1277Ala) c.3893G>C (p.Gly1298Ala) n.273-1473G>C c.3305G>C (p.Gly1102Ala) c.3437G>C (p.Gly1146Ala) c.3257G>C (p.Gly1086Ala) c.3194G>C (p.Gly1065Ala) c.3038G>C (p.Gly1013Ala) c.2969G>C (p.Gly990Ala) | |
| 6 | g.33167289C>T | CA363622594 | COL11A2 | n.118G>A c.4151G>A (p.Gly1384Asp) c.3830G>A (p.Gly1277Asp) c.3893G>A (p.Gly1298Asp) n.273-1473G>A c.3305G>A (p.Gly1102Asp) c.3437G>A (p.Gly1146Asp) c.3257G>A (p.Gly1086Asp) c.3194G>A (p.Gly1065Asp) c.3038G>A (p.Gly1013Asp) c.2969G>A (p.Gly990Asp) | |
| 6 | g.33167290C>A | CA363622595 | COL11A2 | n.117G>T c.4150G>T (p.Gly1384Cys) c.3829G>T (p.Gly1277Cys) c.3892G>T (p.Gly1298Cys) n.273-1474G>T c.3304G>T (p.Gly1102Cys) c.3436G>T (p.Gly1146Cys) c.3256G>T (p.Gly1086Cys) c.3193G>T (p.Gly1065Cys) c.3037G>T (p.Gly1013Cys) c.2968G>T (p.Gly990Cys) | |
| 6 | g.33167290C>G | CA363622598 | COL11A2 | n.117G>C c.4150G>C (p.Gly1384Arg) c.3829G>C (p.Gly1277Arg) c.3892G>C (p.Gly1298Arg) n.273-1474G>C c.3304G>C (p.Gly1102Arg) c.3436G>C (p.Gly1146Arg) c.3256G>C (p.Gly1086Arg) c.3193G>C (p.Gly1065Arg) c.3037G>C (p.Gly1013Arg) c.2968G>C (p.Gly990Arg) | |
| 6 | g.33167290C>T | CA363622600 | COL11A2 | n.117G>A c.4150G>A (p.Gly1384Ser) c.3829G>A (p.Gly1277Ser) c.3892G>A (p.Gly1298Ser) n.273-1474G>A c.3304G>A (p.Gly1102Ser) c.3436G>A (p.Gly1146Ser) c.3256G>A (p.Gly1086Ser) c.3193G>A (p.Gly1065Ser) c.3037G>A (p.Gly1013Ser) c.2968G>A (p.Gly990Ser) | |
| 6 | g.33167291T>A | CA449869288 | COL11A2 | n.116A>T c.4149A>T (p.Thr1383=) c.3828A>T (p.Thr1276=) c.3891A>T (p.Thr1297=) n.273-1475A>T c.3303A>T (p.Thr1101=) c.3435A>T (p.Thr1145=) c.3255A>T (p.Thr1085=) c.3192A>T (p.Thr1064=) c.3036A>T (p.Thr1012=) c.2967A>T (p.Thr989=) | |
| 6 | g.33167291T>C | CA3750206 | COL11A2 | n.116A>G c.4149A>G (p.Thr1383=) c.3828A>G (p.Thr1276=) c.3891A>G (p.Thr1297=) n.273-1475A>G c.3303A>G (p.Thr1101=) c.3435A>G (p.Thr1145=) c.3255A>G (p.Thr1085=) c.3192A>G (p.Thr1064=) c.3036A>G (p.Thr1012=) c.2967A>G (p.Thr989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33167291T>G | CA449869289 | COL11A2 | n.116A>C c.4149A>C (p.Thr1383=) c.3828A>C (p.Thr1276=) c.3891A>C (p.Thr1297=) n.273-1475A>C c.3303A>C (p.Thr1101=) c.3435A>C (p.Thr1145=) c.3255A>C (p.Thr1085=) c.3192A>C (p.Thr1064=) c.3036A>C (p.Thr1012=) c.2967A>C (p.Thr989=) | |
| 6 | g.33167291T= | CA1619893177 | COL11A2 | n.116A= c.4149A= (p.Thr1383=) c.3828A= (p.Thr1276=) c.3891A= (p.Thr1297=) n.273-1475A= c.3303A= (p.Thr1101=) c.3435A= (p.Thr1145=) c.3255A= (p.Thr1085=) c.3192A= (p.Thr1064=) c.3036A= (p.Thr1012=) c.2967A= (p.Thr989=) | |
| 6 | g.33167292G>A | CA363622611 | COL11A2 | n.115C>T c.4148C>T (p.Thr1383Ile) c.3827C>T (p.Thr1276Ile) c.3890C>T (p.Thr1297Ile) n.273-1476C>T c.3302C>T (p.Thr1101Ile) c.3434C>T (p.Thr1145Ile) c.3254C>T (p.Thr1085Ile) c.3191C>T (p.Thr1064Ile) c.3035C>T (p.Thr1012Ile) c.2966C>T (p.Thr989Ile) | |
| 6 | g.33167292G>C | CA3750207 | COL11A2 | n.115C>G c.4148C>G (p.Thr1383Arg) c.3827C>G (p.Thr1276Arg) c.3890C>G (p.Thr1297Arg) n.273-1476C>G c.3302C>G (p.Thr1101Arg) c.3434C>G (p.Thr1145Arg) c.3254C>G (p.Thr1085Arg) c.3191C>G (p.Thr1064Arg) c.3035C>G (p.Thr1012Arg) c.2966C>G (p.Thr989Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33167292G= | CA1619893184 | COL11A2 | n.115C= c.4148C= (p.Thr1383=) c.3827C= (p.Thr1276=) c.3890C= (p.Thr1297=) n.273-1476C= c.3302C= (p.Thr1101=) c.3434C= (p.Thr1145=) c.3254C= (p.Thr1085=) c.3191C= (p.Thr1064=) c.3035C= (p.Thr1012=) c.2966C= (p.Thr989=) | |
| 6 | g.33167292G>T | CA363622616 | COL11A2 | n.115C>A c.4148C>A (p.Thr1383Lys) c.3827C>A (p.Thr1276Lys) c.3890C>A (p.Thr1297Lys) n.273-1476C>A c.3302C>A (p.Thr1101Lys) c.3434C>A (p.Thr1145Lys) c.3254C>A (p.Thr1085Lys) c.3191C>A (p.Thr1064Lys) c.3035C>A (p.Thr1012Lys) c.2966C>A (p.Thr989Lys) | |
| 6 | g.33167293T>A | CA363622618 | COL11A2 | n.114A>T c.4147A>T (p.Thr1383Ser) c.3826A>T (p.Thr1276Ser) c.3889A>T (p.Thr1297Ser) n.273-1477A>T c.3301A>T (p.Thr1101Ser) c.3433A>T (p.Thr1145Ser) c.3253A>T (p.Thr1085Ser) c.3190A>T (p.Thr1064Ser) c.3034A>T (p.Thr1012Ser) c.2965A>T (p.Thr989Ser) | |
| 6 | g.33167293T>C | CA363622622 | COL11A2 | n.114A>G c.4147A>G (p.Thr1383Ala) c.3826A>G (p.Thr1276Ala) c.3889A>G (p.Thr1297Ala) n.273-1477A>G c.3301A>G (p.Thr1101Ala) c.3433A>G (p.Thr1145Ala) c.3253A>G (p.Thr1085Ala) c.3190A>G (p.Thr1064Ala) c.3034A>G (p.Thr1012Ala) c.2965A>G (p.Thr989Ala) | |
| 6 | g.33167293T>G | CA363622626 | COL11A2 | n.114A>C c.4147A>C (p.Thr1383Pro) c.3826A>C (p.Thr1276Pro) c.3889A>C (p.Thr1297Pro) n.273-1477A>C c.3301A>C (p.Thr1101Pro) c.3433A>C (p.Thr1145Pro) c.3253A>C (p.Thr1085Pro) c.3190A>C (p.Thr1064Pro) c.3034A>C (p.Thr1012Pro) c.2965A>C (p.Thr989Pro) | |
| 6 | g.33167294A= | CA1619893188 | COL11A2 | n.113T= c.4146T= (p.Ala1382=) c.3825T= (p.Ala1275=) c.3888T= (p.Ala1296=) n.273-1478T= c.3300T= (p.Ala1100=) c.3432T= (p.Ala1144=) c.3252T= (p.Ala1084=) c.3189T= (p.Ala1063=) c.3033T= (p.Ala1011=) c.2964T= (p.Ala988=) | |
| 6 | g.33167294A>C | CA449869291 | COL11A2 | n.113T>G c.4146T>G (p.Ala1382=) c.3825T>G (p.Ala1275=) c.3888T>G (p.Ala1296=) n.273-1478T>G c.3300T>G (p.Ala1100=) c.3432T>G (p.Ala1144=) c.3252T>G (p.Ala1084=) c.3189T>G (p.Ala1063=) c.3033T>G (p.Ala1011=) c.2964T>G (p.Ala988=) | |
| 6 | g.33167294A>G | CA449869292 | COL11A2 | n.113T>C c.4146T>C (p.Ala1382=) c.3825T>C (p.Ala1275=) c.3888T>C (p.Ala1296=) n.273-1478T>C c.3300T>C (p.Ala1100=) c.3432T>C (p.Ala1144=) c.3252T>C (p.Ala1084=) c.3189T>C (p.Ala1063=) c.3033T>C (p.Ala1011=) c.2964T>C (p.Ala988=) | dbSNP gnomAD v4 |
| 6 | g.33167294A>T | CA449869293 | COL11A2 | n.113T>A c.4146T>A (p.Ala1382=) c.3825T>A (p.Ala1275=) c.3888T>A (p.Ala1296=) n.273-1478T>A c.3300T>A (p.Ala1100=) c.3432T>A (p.Ala1144=) c.3252T>A (p.Ala1084=) c.3189T>A (p.Ala1063=) c.3033T>A (p.Ala1011=) c.2964T>A (p.Ala988=) | |
| 6 | g.33167295G>A | CA363622634 | COL11A2 | n.112C>T c.4145C>T (p.Ala1382Val) c.3824C>T (p.Ala1275Val) c.3887C>T (p.Ala1296Val) n.273-1479C>T c.3299C>T (p.Ala1100Val) c.3431C>T (p.Ala1144Val) c.3251C>T (p.Ala1084Val) c.3188C>T (p.Ala1063Val) c.3032C>T (p.Ala1011Val) c.2963C>T (p.Ala988Val) | |
| 6 | g.33167295G>C | CA363622628 | COL11A2 | n.112C>G c.4145C>G (p.Ala1382Gly) c.3824C>G (p.Ala1275Gly) c.3887C>G (p.Ala1296Gly) n.273-1479C>G c.3299C>G (p.Ala1100Gly) c.3431C>G (p.Ala1144Gly) c.3251C>G (p.Ala1084Gly) c.3188C>G (p.Ala1063Gly) c.3032C>G (p.Ala1011Gly) c.2963C>G (p.Ala988Gly) | |
| 6 | g.33167295G>T | CA363622630 | COL11A2 | n.112C>A c.4145C>A (p.Ala1382Asp) c.3824C>A (p.Ala1275Asp) c.3887C>A (p.Ala1296Asp) n.273-1479C>A c.3299C>A (p.Ala1100Asp) c.3431C>A (p.Ala1144Asp) c.3251C>A (p.Ala1084Asp) c.3188C>A (p.Ala1063Asp) c.3032C>A (p.Ala1011Asp) c.2963C>A (p.Ala988Asp) | |
| 6 | g.33167296C>A | CA363622638 | COL11A2 | n.111G>T c.4144G>T (p.Ala1382Ser) c.3823G>T (p.Ala1275Ser) c.3886G>T (p.Ala1296Ser) n.273-1480G>T c.3298G>T (p.Ala1100Ser) c.3430G>T (p.Ala1144Ser) c.3250G>T (p.Ala1084Ser) c.3187G>T (p.Ala1063Ser) c.3031G>T (p.Ala1011Ser) c.2962G>T (p.Ala988Ser) | |
| 6 | g.33167296C>G | CA363622639 | COL11A2 | n.111G>C c.4144G>C (p.Ala1382Pro) c.3823G>C (p.Ala1275Pro) c.3886G>C (p.Ala1296Pro) n.273-1480G>C c.3298G>C (p.Ala1100Pro) c.3430G>C (p.Ala1144Pro) c.3250G>C (p.Ala1084Pro) c.3187G>C (p.Ala1063Pro) c.3031G>C (p.Ala1011Pro) c.2962G>C (p.Ala988Pro) | gnomAD v4 |
| 6 | g.33167296C>T | CA363622640 | COL11A2 | n.111G>A c.4144G>A (p.Ala1382Thr) c.3823G>A (p.Ala1275Thr) c.3886G>A (p.Ala1296Thr) n.273-1480G>A c.3298G>A (p.Ala1100Thr) c.3430G>A (p.Ala1144Thr) c.3250G>A (p.Ala1084Thr) c.3187G>A (p.Ala1063Thr) c.3031G>A (p.Ala1011Thr) c.2962G>A (p.Ala988Thr) | gnomAD v4 |
| 6 | g.33167297T>A | CA449869295 | COL11A2 | n.110A>T c.4143A>T (p.Gly1381=) c.3822A>T (p.Gly1274=) c.3885A>T (p.Gly1295=) n.273-1481A>T c.3297A>T (p.Gly1099=) c.3429A>T (p.Gly1143=) c.3249A>T (p.Gly1083=) c.3186A>T (p.Gly1062=) c.3030A>T (p.Gly1010=) c.2961A>T (p.Gly987=) | |
| 6 | g.33167297T>C | CA449869296 | COL11A2 | n.110A>G c.4143A>G (p.Gly1381=) c.3822A>G (p.Gly1274=) c.3885A>G (p.Gly1295=) n.273-1481A>G c.3297A>G (p.Gly1099=) c.3429A>G (p.Gly1143=) c.3249A>G (p.Gly1083=) c.3186A>G (p.Gly1062=) c.3030A>G (p.Gly1010=) c.2961A>G (p.Gly987=) | |
| 6 | g.33167297T>G | CA449869297 | COL11A2 | n.110A>C c.4143A>C (p.Gly1381=) c.3822A>C (p.Gly1274=) c.3885A>C (p.Gly1295=) n.273-1481A>C c.3297A>C (p.Gly1099=) c.3429A>C (p.Gly1143=) c.3249A>C (p.Gly1083=) c.3186A>C (p.Gly1062=) c.3030A>C (p.Gly1010=) c.2961A>C (p.Gly987=) | |
| 6 | g.33167298C>A | CA363622641 | COL11A2 | n.109G>T c.4142G>T (p.Gly1381Val) c.3821G>T (p.Gly1274Val) c.3884G>T (p.Gly1295Val) n.273-1482G>T c.3296G>T (p.Gly1099Val) c.3428G>T (p.Gly1143Val) c.3248G>T (p.Gly1083Val) c.3185G>T (p.Gly1062Val) c.3029G>T (p.Gly1010Val) c.2960G>T (p.Gly987Val) | |
| 6 | g.33167298C>G | CA363622645 | COL11A2 | n.109G>C c.4142G>C (p.Gly1381Ala) c.3821G>C (p.Gly1274Ala) c.3884G>C (p.Gly1295Ala) n.273-1482G>C c.3296G>C (p.Gly1099Ala) c.3428G>C (p.Gly1143Ala) c.3248G>C (p.Gly1083Ala) c.3185G>C (p.Gly1062Ala) c.3029G>C (p.Gly1010Ala) c.2960G>C (p.Gly987Ala) | |
| 6 | g.33167298C>T | CA363622651 | COL11A2 | n.109G>A c.4142G>A (p.Gly1381Glu) c.3821G>A (p.Gly1274Glu) c.3884G>A (p.Gly1295Glu) n.273-1482G>A c.3296G>A (p.Gly1099Glu) c.3428G>A (p.Gly1143Glu) c.3248G>A (p.Gly1083Glu) c.3185G>A (p.Gly1062Glu) c.3029G>A (p.Gly1010Glu) c.2960G>A (p.Gly987Glu) | ClinVar |
| 6 | g.33167299C>A | CA363622655 | COL11A2 | n.108G>T c.4141G>T (p.Gly1381Ter) c.3820G>T (p.Gly1274Ter) c.3883G>T (p.Gly1295Ter) n.273-1483G>T c.3295G>T (p.Gly1099Ter) c.3427G>T (p.Gly1143Ter) c.3247G>T (p.Gly1083Ter) c.3184G>T (p.Gly1062Ter) c.3028G>T (p.Gly1010Ter) c.2959G>T (p.Gly987Ter) | |
| 6 | g.33167299C>G | CA363622659 | COL11A2 | n.108G>C c.4141G>C (p.Gly1381Arg) c.3820G>C (p.Gly1274Arg) c.3883G>C (p.Gly1295Arg) n.273-1483G>C c.3295G>C (p.Gly1099Arg) c.3427G>C (p.Gly1143Arg) c.3247G>C (p.Gly1083Arg) c.3184G>C (p.Gly1062Arg) c.3028G>C (p.Gly1010Arg) c.2959G>C (p.Gly987Arg) | |
| 6 | g.33167299C>T | CA363622660 | COL11A2 | n.108G>A c.4141G>A (p.Gly1381Arg) c.3820G>A (p.Gly1274Arg) c.3883G>A (p.Gly1295Arg) n.273-1483G>A c.3295G>A (p.Gly1099Arg) c.3427G>A (p.Gly1143Arg) c.3247G>A (p.Gly1083Arg) c.3184G>A (p.Gly1062Arg) c.3028G>A (p.Gly1010Arg) c.2959G>A (p.Gly987Arg) | |
| 6 | g.33167300A>C | CA449869301 | COL11A2 | n.107T>G c.4140T>G (p.Pro1380=) c.3819T>G (p.Pro1273=) c.3882T>G (p.Pro1294=) n.273-1484T>G c.3294T>G (p.Pro1098=) c.3426T>G (p.Pro1142=) c.3246T>G (p.Pro1082=) c.3183T>G (p.Pro1061=) c.3027T>G (p.Pro1009=) c.2958T>G (p.Pro986=) | |
| 6 | g.33167300A>G | CA449869302 | COL11A2 | n.107T>C c.4140T>C (p.Pro1380=) c.3819T>C (p.Pro1273=) c.3882T>C (p.Pro1294=) n.273-1484T>C c.3294T>C (p.Pro1098=) c.3426T>C (p.Pro1142=) c.3246T>C (p.Pro1082=) c.3183T>C (p.Pro1061=) c.3027T>C (p.Pro1009=) c.2958T>C (p.Pro986=) | |
| 6 | g.33167300A>T | CA449869303 | COL11A2 | n.107T>A c.4140T>A (p.Pro1380=) c.3819T>A (p.Pro1273=) c.3882T>A (p.Pro1294=) n.273-1484T>A c.3294T>A (p.Pro1098=) c.3426T>A (p.Pro1142=) c.3246T>A (p.Pro1082=) c.3183T>A (p.Pro1061=) c.3027T>A (p.Pro1009=) c.2958T>A (p.Pro986=) | |
| 6 | g.33167301G>A | CA3750208 | COL11A2 | n.106C>T c.4139C>T (p.Pro1380Leu) c.3818C>T (p.Pro1273Leu) c.3881C>T (p.Pro1294Leu) n.273-1485C>T c.3293C>T (p.Pro1098Leu) c.3425C>T (p.Pro1142Leu) c.3245C>T (p.Pro1082Leu) c.3182C>T (p.Pro1061Leu) c.3026C>T (p.Pro1009Leu) c.2957C>T (p.Pro986Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33167301G>C | CA363622670 | COL11A2 | n.106C>G c.4139C>G (p.Pro1380Arg) c.3818C>G (p.Pro1273Arg) c.3881C>G (p.Pro1294Arg) n.273-1485C>G c.3293C>G (p.Pro1098Arg) c.3425C>G (p.Pro1142Arg) c.3245C>G (p.Pro1082Arg) c.3182C>G (p.Pro1061Arg) c.3026C>G (p.Pro1009Arg) c.2957C>G (p.Pro986Arg) | dbSNP |
| 6 | g.33167301G= | CA1619893192 | COL11A2 | n.106C= c.4139C= (p.Pro1380=) c.3818C= (p.Pro1273=) c.3881C= (p.Pro1294=) n.273-1485C= c.3293C= (p.Pro1098=) c.3425C= (p.Pro1142=) c.3245C= (p.Pro1082=) c.3182C= (p.Pro1061=) c.3026C= (p.Pro1009=) c.2957C= (p.Pro986=) | |
| 6 | g.33167301G>T | CA363622673 | COL11A2 | n.106C>A c.4139C>A (p.Pro1380His) c.3818C>A (p.Pro1273His) c.3881C>A (p.Pro1294His) n.273-1485C>A c.3293C>A (p.Pro1098His) c.3425C>A (p.Pro1142His) c.3245C>A (p.Pro1082His) c.3182C>A (p.Pro1061His) c.3026C>A (p.Pro1009His) c.2957C>A (p.Pro986His) | |
| 6 | g.33167302G>A | CA3750209 | COL11A2 | n.105C>T c.4138C>T (p.Pro1380Ser) c.3817C>T (p.Pro1273Ser) c.3880C>T (p.Pro1294Ser) n.273-1486C>T c.3292C>T (p.Pro1098Ser) c.3424C>T (p.Pro1142Ser) c.3244C>T (p.Pro1082Ser) c.3181C>T (p.Pro1061Ser) c.3025C>T (p.Pro1009Ser) c.2956C>T (p.Pro986Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.33167302G>C | CA363622681 | COL11A2 | n.105C>G c.4138C>G (p.Pro1380Ala) c.3817C>G (p.Pro1273Ala) c.3880C>G (p.Pro1294Ala) n.273-1486C>G c.3292C>G (p.Pro1098Ala) c.3424C>G (p.Pro1142Ala) c.3244C>G (p.Pro1082Ala) c.3181C>G (p.Pro1061Ala) c.3025C>G (p.Pro1009Ala) c.2956C>G (p.Pro986Ala) | |
| 6 | g.33167302G= | CA1619893195 | COL11A2 | n.105C= c.4138C= (p.Pro1380=) c.3817C= (p.Pro1273=) c.3880C= (p.Pro1294=) n.273-1486C= c.3292C= (p.Pro1098=) c.3424C= (p.Pro1142=) c.3244C= (p.Pro1082=) c.3181C= (p.Pro1061=) c.3025C= (p.Pro1009=) c.2956C= (p.Pro986=) | |
| 6 | g.33167302G>T | CA363622677 | COL11A2 | n.105C>A c.4138C>A (p.Pro1380Thr) c.3817C>A (p.Pro1273Thr) c.3880C>A (p.Pro1294Thr) n.273-1486C>A c.3292C>A (p.Pro1098Thr) c.3424C>A (p.Pro1142Thr) c.3244C>A (p.Pro1082Thr) c.3181C>A (p.Pro1061Thr) c.3025C>A (p.Pro1009Thr) c.2956C>A (p.Pro986Thr) | |
| 6 | g.33167303T>A | CA449869306 | COL11A2 | n.104A>T c.4137A>T (p.Arg1379=) c.3816A>T (p.Arg1272=) c.3879A>T (p.Arg1293=) n.273-1487A>T c.3291A>T (p.Arg1097=) c.3423A>T (p.Arg1141=) c.3243A>T (p.Arg1081=) c.3180A>T (p.Arg1060=) c.3024A>T (p.Arg1008=) c.2955A>T (p.Arg985=) | |
| 6 | g.33167303T>C | CA449869305 | COL11A2 | n.104A>G c.4137A>G (p.Arg1379=) c.3816A>G (p.Arg1272=) c.3879A>G (p.Arg1293=) n.273-1487A>G c.3291A>G (p.Arg1097=) c.3423A>G (p.Arg1141=) c.3243A>G (p.Arg1081=) c.3180A>G (p.Arg1060=) c.3024A>G (p.Arg1008=) c.2955A>G (p.Arg985=) | |
| 6 | g.33167303T>G | CA449869304 | COL11A2 | n.104A>C c.4137A>C (p.Arg1379=) c.3816A>C (p.Arg1272=) c.3879A>C (p.Arg1293=) n.273-1487A>C c.3291A>C (p.Arg1097=) c.3423A>C (p.Arg1141=) c.3243A>C (p.Arg1081=) c.3180A>C (p.Arg1060=) c.3024A>C (p.Arg1008=) c.2955A>C (p.Arg985=) | |
| 6 | g.33167304C>A | CA363622688 | COL11A2 | n.103G>T c.4136G>T (p.Arg1379Leu) c.3815G>T (p.Arg1272Leu) c.3878G>T (p.Arg1293Leu) n.273-1488G>T c.3290G>T (p.Arg1097Leu) c.3422G>T (p.Arg1141Leu) c.3242G>T (p.Arg1081Leu) c.3179G>T (p.Arg1060Leu) c.3023G>T (p.Arg1008Leu) c.2954G>T (p.Arg985Leu) | |
| 6 | g.33167304C= | CA1619893198 | COL11A2 | n.103G= c.4136G= (p.Arg1379=) c.3815G= (p.Arg1272=) c.3878G= (p.Arg1293=) n.273-1488G= c.3290G= (p.Arg1097=) c.3422G= (p.Arg1141=) c.3242G= (p.Arg1081=) c.3179G= (p.Arg1060=) c.3023G= (p.Arg1008=) c.2954G= (p.Arg985=) | |
| 6 | g.33167304C>G | CA363622691 | COL11A2 | n.103G>C c.4136G>C (p.Arg1379Pro) c.3815G>C (p.Arg1272Pro) c.3878G>C (p.Arg1293Pro) n.273-1488G>C c.3290G>C (p.Arg1097Pro) c.3422G>C (p.Arg1141Pro) c.3242G>C (p.Arg1081Pro) c.3179G>C (p.Arg1060Pro) c.3023G>C (p.Arg1008Pro) c.2954G>C (p.Arg985Pro) | |
| 6 | g.33167304C>T | CA3750210 | COL11A2 | n.103G>A c.4136G>A (p.Arg1379Gln) c.3815G>A (p.Arg1272Gln) c.3878G>A (p.Arg1293Gln) n.273-1488G>A c.3290G>A (p.Arg1097Gln) c.3422G>A (p.Arg1141Gln) c.3242G>A (p.Arg1081Gln) c.3179G>A (p.Arg1060Gln) c.3023G>A (p.Arg1008Gln) c.2954G>A (p.Arg985Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33167305G>A | CA281690 | COL11A2 | n.102C>T c.4135C>T (p.Arg1379Ter) c.3814C>T (p.Arg1272Ter) c.3877C>T (p.Arg1293Ter) n.273-1489C>T c.3289C>T (p.Arg1097Ter) c.3421C>T (p.Arg1141Ter) c.3241C>T (p.Arg1081Ter) c.3178C>T (p.Arg1060Ter) c.3022C>T (p.Arg1008Ter) c.2953C>T (p.Arg985Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33167305G>C | CA363622700 | COL11A2 | n.102C>G c.4135C>G (p.Arg1379Gly) c.3814C>G (p.Arg1272Gly) c.3877C>G (p.Arg1293Gly) n.273-1489C>G c.3289C>G (p.Arg1097Gly) c.3421C>G (p.Arg1141Gly) c.3241C>G (p.Arg1081Gly) c.3178C>G (p.Arg1060Gly) c.3022C>G (p.Arg1008Gly) c.2953C>G (p.Arg985Gly) | gnomAD v4 |
| 6 | g.33167305G= | CA1619893205 | COL11A2 | n.102C= c.4135C= (p.Arg1379=) c.3814C= (p.Arg1272=) c.3877C= (p.Arg1293=) n.273-1489C= c.3289C= (p.Arg1097=) c.3421C= (p.Arg1141=) c.3241C= (p.Arg1081=) c.3178C= (p.Arg1060=) c.3022C= (p.Arg1008=) c.2953C= (p.Arg985=) | |
| 6 | g.33167305G>T | CA449869308 | COL11A2 | n.102C>A c.4135C>A (p.Arg1379=) c.3814C>A (p.Arg1272=) c.3877C>A (p.Arg1293=) n.273-1489C>A c.3289C>A (p.Arg1097=) c.3421C>A (p.Arg1141=) c.3241C>A (p.Arg1081=) c.3178C>A (p.Arg1060=) c.3022C>A (p.Arg1008=) c.2953C>A (p.Arg985=) | |
| 6 | g.33167306G>A | CA3750211 | COL11A2 | n.101C>T c.4134C>T (p.Gly1378=) c.3813C>T (p.Gly1271=) c.3876C>T (p.Gly1292=) n.273-1490C>T c.3288C>T (p.Gly1096=) c.3420C>T (p.Gly1140=) c.3240C>T (p.Gly1080=) c.3177C>T (p.Gly1059=) c.3021C>T (p.Gly1007=) c.2952C>T (p.Gly984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33167306G>C | CA449869310 | COL11A2 | n.101C>G c.4134C>G (p.Gly1378=) c.3813C>G (p.Gly1271=) c.3876C>G (p.Gly1292=) n.273-1490C>G c.3288C>G (p.Gly1096=) c.3420C>G (p.Gly1140=) c.3240C>G (p.Gly1080=) c.3177C>G (p.Gly1059=) c.3021C>G (p.Gly1007=) c.2952C>G (p.Gly984=) | |
| 6 | g.33167306G= | CA1619893208 | COL11A2 | n.101C= c.4134C= (p.Gly1378=) c.3813C= (p.Gly1271=) c.3876C= (p.Gly1292=) n.273-1490C= c.3288C= (p.Gly1096=) c.3420C= (p.Gly1140=) c.3240C= (p.Gly1080=) c.3177C= (p.Gly1059=) c.3021C= (p.Gly1007=) c.2952C= (p.Gly984=) | |
| 6 | g.33167306G>T | CA449869311 | COL11A2 | n.101C>A c.4134C>A (p.Gly1378=) c.3813C>A (p.Gly1271=) c.3876C>A (p.Gly1292=) n.273-1490C>A c.3288C>A (p.Gly1096=) c.3420C>A (p.Gly1140=) c.3240C>A (p.Gly1080=) c.3177C>A (p.Gly1059=) c.3021C>A (p.Gly1007=) c.2952C>A (p.Gly984=) | |
| 6 | g.33167307C>A | CA363622717 | COL11A2 | n.100G>T c.4133G>T (p.Gly1378Val) c.3812G>T (p.Gly1271Val) c.3875G>T (p.Gly1292Val) n.273-1491G>T c.3287G>T (p.Gly1096Val) c.3419G>T (p.Gly1140Val) c.3239G>T (p.Gly1080Val) c.3176G>T (p.Gly1059Val) c.3020G>T (p.Gly1007Val) c.2951G>T (p.Gly984Val) | |
| 6 | g.33167307C>G | CA363622710 | COL11A2 | n.100G>C c.4133G>C (p.Gly1378Ala) c.3812G>C (p.Gly1271Ala) c.3875G>C (p.Gly1292Ala) n.273-1491G>C c.3287G>C (p.Gly1096Ala) c.3419G>C (p.Gly1140Ala) c.3239G>C (p.Gly1080Ala) c.3176G>C (p.Gly1059Ala) c.3020G>C (p.Gly1007Ala) c.2951G>C (p.Gly984Ala) | |
| 6 | g.33167307C>T | CA363622714 | COL11A2 | n.100G>A c.4133G>A (p.Gly1378Asp) c.3812G>A (p.Gly1271Asp) c.3875G>A (p.Gly1292Asp) n.273-1491G>A c.3287G>A (p.Gly1096Asp) c.3419G>A (p.Gly1140Asp) c.3239G>A (p.Gly1080Asp) c.3176G>A (p.Gly1059Asp) c.3020G>A (p.Gly1007Asp) c.2951G>A (p.Gly984Asp) | |
| 6 | g.33167308C>A | CA363622722 | COL11A2 | n.99G>T c.4132G>T (p.Gly1378Cys) c.3811G>T (p.Gly1271Cys) c.3874G>T (p.Gly1292Cys) n.273-1492G>T c.3286G>T (p.Gly1096Cys) c.3418G>T (p.Gly1140Cys) c.3238G>T (p.Gly1080Cys) c.3175G>T (p.Gly1059Cys) c.3019G>T (p.Gly1007Cys) c.2950G>T (p.Gly984Cys) | |
| 6 | g.33167308C= | CA1619893212 | COL11A2 | n.99G= c.4132G= (p.Gly1378=) c.3811G= (p.Gly1271=) c.3874G= (p.Gly1292=) n.273-1492G= c.3286G= (p.Gly1096=) c.3418G= (p.Gly1140=) c.3238G= (p.Gly1080=) c.3175G= (p.Gly1059=) c.3019G= (p.Gly1007=) c.2950G= (p.Gly984=) | |
| 6 | g.33167308C>G | CA363622727 | COL11A2 | n.99G>C c.4132G>C (p.Gly1378Arg) c.3811G>C (p.Gly1271Arg) c.3874G>C (p.Gly1292Arg) n.273-1492G>C c.3286G>C (p.Gly1096Arg) c.3418G>C (p.Gly1140Arg) c.3238G>C (p.Gly1080Arg) c.3175G>C (p.Gly1059Arg) c.3019G>C (p.Gly1007Arg) c.2950G>C (p.Gly984Arg) | |
| 6 | g.33167308C>T | CA363622732 | COL11A2 | n.99G>A c.4132G>A (p.Gly1378Ser) c.3811G>A (p.Gly1271Ser) c.3874G>A (p.Gly1292Ser) n.273-1492G>A c.3286G>A (p.Gly1096Ser) c.3418G>A (p.Gly1140Ser) c.3238G>A (p.Gly1080Ser) c.3175G>A (p.Gly1059Ser) c.3019G>A (p.Gly1007Ser) c.2950G>A (p.Gly984Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167309T>A | CA363622739 | COL11A2 | n.98A>T c.4131A>T (p.Gln1377His) c.3810A>T (p.Gln1270His) c.3873A>T (p.Gln1291His) n.273-1493A>T c.3285A>T (p.Gln1095His) c.3417A>T (p.Gln1139His) c.3237A>T (p.Gln1079His) c.3174A>T (p.Gln1058His) c.3018A>T (p.Gln1006His) c.2949A>T (p.Gln983His) | |
| 6 | g.33167309T>C | CA449869452 | COL11A2 | n.98A>G c.4131A>G (p.Gln1377=) c.3810A>G (p.Gln1270=) c.3873A>G (p.Gln1291=) n.273-1493A>G c.3285A>G (p.Gln1095=) c.3417A>G (p.Gln1139=) c.3237A>G (p.Gln1079=) c.3174A>G (p.Gln1058=) c.3018A>G (p.Gln1006=) c.2949A>G (p.Gln983=) | |
| 6 | g.33167309T>G | CA363622743 | COL11A2 | n.98A>C c.4131A>C (p.Gln1377His) c.3810A>C (p.Gln1270His) c.3873A>C (p.Gln1291His) n.273-1493A>C c.3285A>C (p.Gln1095His) c.3417A>C (p.Gln1139His) c.3237A>C (p.Gln1079His) c.3174A>C (p.Gln1058His) c.3018A>C (p.Gln1006His) c.2949A>C (p.Gln983His) | |
| 6 | g.33167310T>A | CA363622751 | COL11A2 | n.97A>T c.4130A>T (p.Gln1377Leu) c.3809A>T (p.Gln1270Leu) c.3872A>T (p.Gln1291Leu) n.273-1494A>T c.3284A>T (p.Gln1095Leu) c.3416A>T (p.Gln1139Leu) c.3236A>T (p.Gln1079Leu) c.3173A>T (p.Gln1058Leu) c.3017A>T (p.Gln1006Leu) c.2948A>T (p.Gln983Leu) | gnomAD v4 |
| 6 | g.33167310T>C | CA363622756 | COL11A2 | n.97A>G c.4130A>G (p.Gln1377Arg) c.3809A>G (p.Gln1270Arg) c.3872A>G (p.Gln1291Arg) n.273-1494A>G c.3284A>G (p.Gln1095Arg) c.3416A>G (p.Gln1139Arg) c.3236A>G (p.Gln1079Arg) c.3173A>G (p.Gln1058Arg) c.3017A>G (p.Gln1006Arg) c.2948A>G (p.Gln983Arg) | |
| 6 | g.33167310T>G | CA363622753 | COL11A2 | n.97A>C c.4130A>C (p.Gln1377Pro) c.3809A>C (p.Gln1270Pro) c.3872A>C (p.Gln1291Pro) n.273-1494A>C c.3284A>C (p.Gln1095Pro) c.3416A>C (p.Gln1139Pro) c.3236A>C (p.Gln1079Pro) c.3173A>C (p.Gln1058Pro) c.3017A>C (p.Gln1006Pro) c.2948A>C (p.Gln983Pro) | |
| 6 | g.33167311G>A | CA363622759 | COL11A2 | n.96C>T c.4129C>T (p.Gln1377Ter) c.3808C>T (p.Gln1270Ter) c.3871C>T (p.Gln1291Ter) n.273-1495C>T c.3283C>T (p.Gln1095Ter) c.3415C>T (p.Gln1139Ter) c.3235C>T (p.Gln1079Ter) c.3172C>T (p.Gln1058Ter) c.3016C>T (p.Gln1006Ter) c.2947C>T (p.Gln983Ter) | |
| 6 | g.33167311G>C | CA363622763 | COL11A2 | n.96C>G c.4129C>G (p.Gln1377Glu) c.3808C>G (p.Gln1270Glu) c.3871C>G (p.Gln1291Glu) n.273-1495C>G c.3283C>G (p.Gln1095Glu) c.3415C>G (p.Gln1139Glu) c.3235C>G (p.Gln1079Glu) c.3172C>G (p.Gln1058Glu) c.3016C>G (p.Gln1006Glu) c.2947C>G (p.Gln983Glu) | |
| 6 | g.33167311G>T | CA363622764 | COL11A2 | n.96C>A c.4129C>A (p.Gln1377Lys) c.3808C>A (p.Gln1270Lys) c.3871C>A (p.Gln1291Lys) n.273-1495C>A c.3283C>A (p.Gln1095Lys) c.3415C>A (p.Gln1139Lys) c.3235C>A (p.Gln1079Lys) c.3172C>A (p.Gln1058Lys) c.3016C>A (p.Gln1006Lys) c.2947C>A (p.Gln983Lys) | |
| 6 | g.33167312C>A | CA363622765 | COL11A2 | n.95G>T c.4128G>T (p.Gln1376His) c.3807G>T (p.Gln1269His) c.3870G>T (p.Gln1290His) n.273-1496G>T c.3282G>T (p.Gln1094His) c.3414G>T (p.Gln1138His) c.3234G>T (p.Gln1078His) c.3171G>T (p.Gln1057His) c.3015G>T (p.Gln1005His) c.2946G>T (p.Gln982His) | |
| 6 | g.33167312C>G | CA363622767 | COL11A2 | n.95G>C c.4128G>C (p.Gln1376His) c.3807G>C (p.Gln1269His) c.3870G>C (p.Gln1290His) n.273-1496G>C c.3282G>C (p.Gln1094His) c.3414G>C (p.Gln1138His) c.3234G>C (p.Gln1078His) c.3171G>C (p.Gln1057His) c.3015G>C (p.Gln1005His) c.2946G>C (p.Gln982His) | gnomAD v4 |
| 6 | g.33167312C>T | CA449869458 | COL11A2 | n.95G>A c.4128G>A (p.Gln1376=) c.3807G>A (p.Gln1269=) c.3870G>A (p.Gln1290=) n.273-1496G>A c.3282G>A (p.Gln1094=) c.3414G>A (p.Gln1138=) c.3234G>A (p.Gln1078=) c.3171G>A (p.Gln1057=) c.3015G>A (p.Gln1005=) c.2946G>A (p.Gln982=) | gnomAD v4 |
| 6 | g.33167313T>A | CA363622772 | COL11A2 | n.94A>T c.4127A>T (p.Gln1376Leu) c.3806A>T (p.Gln1269Leu) c.3869A>T (p.Gln1290Leu) n.273-1497A>T c.3281A>T (p.Gln1094Leu) c.3413A>T (p.Gln1138Leu) c.3233A>T (p.Gln1078Leu) c.3170A>T (p.Gln1057Leu) c.3014A>T (p.Gln1005Leu) c.2945A>T (p.Gln982Leu) | |
| 6 | g.33167313T>C | CA363622779 | COL11A2 | n.94A>G c.4127A>G (p.Gln1376Arg) c.3806A>G (p.Gln1269Arg) c.3869A>G (p.Gln1290Arg) n.273-1497A>G c.3281A>G (p.Gln1094Arg) c.3413A>G (p.Gln1138Arg) c.3233A>G (p.Gln1078Arg) c.3170A>G (p.Gln1057Arg) c.3014A>G (p.Gln1005Arg) c.2945A>G (p.Gln982Arg) | ClinVar |
| 6 | g.33167313T>G | CA363622783 | COL11A2 | n.94A>C c.4127A>C (p.Gln1376Pro) c.3806A>C (p.Gln1269Pro) c.3869A>C (p.Gln1290Pro) n.273-1497A>C c.3281A>C (p.Gln1094Pro) c.3413A>C (p.Gln1138Pro) c.3233A>C (p.Gln1078Pro) c.3170A>C (p.Gln1057Pro) c.3014A>C (p.Gln1005Pro) c.2945A>C (p.Gln982Pro) | |
| 6 | g.33167314G>A | CA363622786 | COL11A2 | n.93C>T c.4126C>T (p.Gln1376Ter) c.3805C>T (p.Gln1269Ter) c.3868C>T (p.Gln1290Ter) n.273-1498C>T c.3280C>T (p.Gln1094Ter) c.3412C>T (p.Gln1138Ter) c.3232C>T (p.Gln1078Ter) c.3169C>T (p.Gln1057Ter) c.3013C>T (p.Gln1005Ter) c.2944C>T (p.Gln982Ter) | COSMIC |
| 6 | g.33167314G>C | CA3750212 | COL11A2 | n.93C>G c.4126C>G (p.Gln1376Glu) c.3805C>G (p.Gln1269Glu) c.3868C>G (p.Gln1290Glu) n.273-1498C>G c.3280C>G (p.Gln1094Glu) c.3412C>G (p.Gln1138Glu) c.3232C>G (p.Gln1078Glu) c.3169C>G (p.Gln1057Glu) c.3013C>G (p.Gln1005Glu) c.2944C>G (p.Gln982Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33167314G= | CA1619893215 | COL11A2 | n.93C= c.4126C= (p.Gln1376=) c.3805C= (p.Gln1269=) c.3868C= (p.Gln1290=) n.273-1498C= c.3280C= (p.Gln1094=) c.3412C= (p.Gln1138=) c.3232C= (p.Gln1078=) c.3169C= (p.Gln1057=) c.3013C= (p.Gln1005=) c.2944C= (p.Gln982=) | |
| 6 | g.33167314G>T | CA363622787 | COL11A2 | n.93C>A c.4126C>A (p.Gln1376Lys) c.3805C>A (p.Gln1269Lys) c.3868C>A (p.Gln1290Lys) n.273-1498C>A c.3280C>A (p.Gln1094Lys) c.3412C>A (p.Gln1138Lys) c.3232C>A (p.Gln1078Lys) c.3169C>A (p.Gln1057Lys) c.3013C>A (p.Gln1005Lys) c.2944C>A (p.Gln982Lys) | |
| 6 | g.33167315A>C | CA449869460 | COL11A2 | n.92T>G c.4125T>G (p.Gly1375=) c.3804T>G (p.Gly1268=) c.3867T>G (p.Gly1289=) n.273-1499T>G c.3279T>G (p.Gly1093=) c.3411T>G (p.Gly1137=) c.3231T>G (p.Gly1077=) c.3168T>G (p.Gly1056=) c.3012T>G (p.Gly1004=) c.2943T>G (p.Gly981=) | |
| 6 | g.33167315A>G | CA449869461 | COL11A2 | n.92T>C c.4125T>C (p.Gly1375=) c.3804T>C (p.Gly1268=) c.3867T>C (p.Gly1289=) n.273-1499T>C c.3279T>C (p.Gly1093=) c.3411T>C (p.Gly1137=) c.3231T>C (p.Gly1077=) c.3168T>C (p.Gly1056=) c.3012T>C (p.Gly1004=) c.2943T>C (p.Gly981=) | |
| 6 | g.33167315A>T | CA449869463 | COL11A2 | n.92T>A c.4125T>A (p.Gly1375=) c.3804T>A (p.Gly1268=) c.3867T>A (p.Gly1289=) n.273-1499T>A c.3279T>A (p.Gly1093=) c.3411T>A (p.Gly1137=) c.3231T>A (p.Gly1077=) c.3168T>A (p.Gly1056=) c.3012T>A (p.Gly1004=) c.2943T>A (p.Gly981=) | |
| 6 | g.33167316C>A | CA363622791 | COL11A2 | n.91G>T c.4124G>T (p.Gly1375Val) c.3803G>T (p.Gly1268Val) c.3866G>T (p.Gly1289Val) n.273-1500G>T c.3278G>T (p.Gly1093Val) c.3410G>T (p.Gly1137Val) c.3230G>T (p.Gly1077Val) c.3167G>T (p.Gly1056Val) c.3011G>T (p.Gly1004Val) c.2942G>T (p.Gly981Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33167316C= | CA1619893220 | COL11A2 | n.91G= c.4124G= (p.Gly1375=) c.3803G= (p.Gly1268=) c.3866G= (p.Gly1289=) n.273-1500G= c.3278G= (p.Gly1093=) c.3410G= (p.Gly1137=) c.3230G= (p.Gly1077=) c.3167G= (p.Gly1056=) c.3011G= (p.Gly1004=) c.2942G= (p.Gly981=) | |
| 6 | g.33167316C>G | CA363622800 | COL11A2 | n.91G>C c.4124G>C (p.Gly1375Ala) c.3803G>C (p.Gly1268Ala) c.3866G>C (p.Gly1289Ala) n.273-1500G>C c.3278G>C (p.Gly1093Ala) c.3410G>C (p.Gly1137Ala) c.3230G>C (p.Gly1077Ala) c.3167G>C (p.Gly1056Ala) c.3011G>C (p.Gly1004Ala) c.2942G>C (p.Gly981Ala) | |
| 6 | g.33167316C>T | CA363622796 | COL11A2 | n.91G>A c.4124G>A (p.Gly1375Asp) c.3803G>A (p.Gly1268Asp) c.3866G>A (p.Gly1289Asp) n.273-1500G>A c.3278G>A (p.Gly1093Asp) c.3410G>A (p.Gly1137Asp) c.3230G>A (p.Gly1077Asp) c.3167G>A (p.Gly1056Asp) c.3011G>A (p.Gly1004Asp) c.2942G>A (p.Gly981Asp) | |
| 6 | g.33167317C>A | CA363622806 | COL11A2 | n.90G>T c.4123G>T (p.Gly1375Cys) c.3802G>T (p.Gly1268Cys) c.3865G>T (p.Gly1289Cys) n.273-1501G>T c.3277G>T (p.Gly1093Cys) c.3409G>T (p.Gly1137Cys) c.3229G>T (p.Gly1077Cys) c.3166G>T (p.Gly1056Cys) c.3010G>T (p.Gly1004Cys) c.2941G>T (p.Gly981Cys) | |
| 6 | g.33167317C>G | CA363622809 | COL11A2 | n.90G>C c.4123G>C (p.Gly1375Arg) c.3802G>C (p.Gly1268Arg) c.3865G>C (p.Gly1289Arg) n.273-1501G>C c.3277G>C (p.Gly1093Arg) c.3409G>C (p.Gly1137Arg) c.3229G>C (p.Gly1077Arg) c.3166G>C (p.Gly1056Arg) c.3010G>C (p.Gly1004Arg) c.2941G>C (p.Gly981Arg) | |
| 6 | g.33167317C>T | CA363622813 | COL11A2 | n.90G>A c.4123G>A (p.Gly1375Ser) c.3802G>A (p.Gly1268Ser) c.3865G>A (p.Gly1289Ser) n.273-1501G>A c.3277G>A (p.Gly1093Ser) c.3409G>A (p.Gly1137Ser) c.3229G>A (p.Gly1077Ser) c.3166G>A (p.Gly1056Ser) c.3010G>A (p.Gly1004Ser) c.2941G>A (p.Gly981Ser) | |
| 6 | g.33167318C>A | CA363622817 | COL11A2 | n.90-1G>T c.4123-1G>T (n.4123-1G>T) c.3802-1G>T (n.3802-1G>T) c.3865-1G>T (n.3865-1G>T) n.273-1502G>T c.3277-1G>T (n.3277-1G>T) c.3409-1G>T (n.3409-1G>T) c.3229-1G>T (n.3229-1G>T) c.3166-1G>T (n.3166-1G>T) c.3010-1G>T (n.3010-1G>T) c.2941-1G>T (n.2941-1G>T) | ClinVar dbSNP |
| 6 | g.33167318C>G | CA363622819 | COL11A2 | n.90-1G>C c.4123-1G>C (n.4123-1G>C) c.3802-1G>C (n.3802-1G>C) c.3865-1G>C (n.3865-1G>C) n.273-1502G>C c.3277-1G>C (n.3277-1G>C) c.3409-1G>C (n.3409-1G>C) c.3229-1G>C (n.3229-1G>C) c.3166-1G>C (n.3166-1G>C) c.3010-1G>C (n.3010-1G>C) c.2941-1G>C (n.2941-1G>C) | COSMIC |
| 6 | g.33167318C>T | CA363622820 | COL11A2 | n.90-1G>A c.4123-1G>A (n.4123-1G>A) c.3802-1G>A (n.3802-1G>A) c.3865-1G>A (n.3865-1G>A) n.273-1502G>A c.3277-1G>A (n.3277-1G>A) c.3409-1G>A (n.3409-1G>A) c.3229-1G>A (n.3229-1G>A) c.3166-1G>A (n.3166-1G>A) c.3010-1G>A (n.3010-1G>A) c.2941-1G>A (n.2941-1G>A) | |
| 6 | g.33167319T>A | CA363622825 | COL11A2 | n.90-2A>T c.4123-2A>T (n.4123-2A>T) c.3802-2A>T (n.3802-2A>T) c.3865-2A>T (n.3865-2A>T) n.273-1503A>T c.3277-2A>T (n.3277-2A>T) c.3409-2A>T (n.3409-2A>T) c.3229-2A>T (n.3229-2A>T) c.3166-2A>T (n.3166-2A>T) c.3010-2A>T (n.3010-2A>T) c.2941-2A>T (n.2941-2A>T) | |
| 6 | g.33167319T>C | CA363622826 | COL11A2 | n.90-2A>G c.4123-2A>G (n.4123-2A>G) c.3802-2A>G (n.3802-2A>G) c.3865-2A>G (n.3865-2A>G) n.273-1503A>G c.3277-2A>G (n.3277-2A>G) c.3409-2A>G (n.3409-2A>G) c.3229-2A>G (n.3229-2A>G) c.3166-2A>G (n.3166-2A>G) c.3010-2A>G (n.3010-2A>G) c.2941-2A>G (n.2941-2A>G) | |
| 6 | g.33167319T>G | CA363622827 | COL11A2 | n.90-2A>C c.4123-2A>C (n.4123-2A>C) c.3802-2A>C (n.3802-2A>C) c.3865-2A>C (n.3865-2A>C) n.273-1503A>C c.3277-2A>C (n.3277-2A>C) c.3409-2A>C (n.3409-2A>C) c.3229-2A>C (n.3229-2A>C) c.3166-2A>C (n.3166-2A>C) c.3010-2A>C (n.3010-2A>C) c.2941-2A>C (n.2941-2A>C) | |
| 6 | g.33167320G>A | CA137062954 | COL11A2 | n.90-3C>T c.4123-3C>T (n.4123-3C>T) c.3802-3C>T (n.3802-3C>T) c.3865-3C>T (n.3865-3C>T) n.273-1504C>T c.3277-3C>T (n.3277-3C>T) c.3409-3C>T (n.3409-3C>T) c.3229-3C>T (n.3229-3C>T) c.3166-3C>T (n.3166-3C>T) c.3010-3C>T (n.3010-3C>T) c.2941-3C>T (n.2941-3C>T) | dbSNP |
| 6 | g.33167320G= | CA1619893224 | COL11A2 | n.90-3C= c.4123-3C= (n.4123-3C=) c.3802-3C= (n.3802-3C=) c.3865-3C= (n.3865-3C=) n.273-1504C= c.3277-3C= (n.3277-3C=) c.3409-3C= (n.3409-3C=) c.3229-3C= (n.3229-3C=) c.3166-3C= (n.3166-3C=) c.3010-3C= (n.3010-3C=) c.2941-3C= (n.2941-3C=) | |
| 6 | g.33167321A>G | CA2578581237 | COL11A2 | n.90-4T>C c.4123-4T>C (n.4123-4T>C) c.3802-4T>C (n.3802-4T>C) c.3865-4T>C (n.3865-4T>C) n.273-1505T>C c.3277-4T>C (n.3277-4T>C) c.3409-4T>C (n.3409-4T>C) c.3229-4T>C (n.3229-4T>C) c.3166-4T>C (n.3166-4T>C) c.3010-4T>C (n.3010-4T>C) c.2941-4T>C (n.2941-4T>C) | |
| 6 | g.33167322A= | CA1619893226 | COL11A2 | n.90-5T= c.4123-5T= (n.4123-5T=) c.3802-5T= (n.3802-5T=) c.3865-5T= (n.3865-5T=) n.273-1506T= c.3277-5T= (n.3277-5T=) c.3409-5T= (n.3409-5T=) c.3229-5T= (n.3229-5T=) c.3166-5T= (n.3166-5T=) c.3010-5T= (n.3010-5T=) c.2941-5T= (n.2941-5T=) | |
| 6 | g.33167322A>G | CA1619893227 | COL11A2 | n.90-5T>C c.4123-5T>C (n.4123-5T>C) c.3802-5T>C (n.3802-5T>C) c.3865-5T>C (n.3865-5T>C) n.273-1506T>C c.3277-5T>C (n.3277-5T>C) c.3409-5T>C (n.3409-5T>C) c.3229-5T>C (n.3229-5T>C) c.3166-5T>C (n.3166-5T>C) c.3010-5T>C (n.3010-5T>C) c.2941-5T>C (n.2941-5T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33167323G>A | CA2543157434 | COL11A2 | n.90-6C>T c.4123-6C>T (n.4123-6C>T) c.3802-6C>T (n.3802-6C>T) c.3865-6C>T (n.3865-6C>T) n.273-1507C>T c.3277-6C>T (n.3277-6C>T) c.3409-6C>T (n.3409-6C>T) c.3229-6C>T (n.3229-6C>T) c.3166-6C>T (n.3166-6C>T) c.3010-6C>T (n.3010-6C>T) c.2941-6C>T (n.2941-6C>T) | |
| 6 | g.33167324A= | CA1619893229 | COL11A2 | n.90-7T= c.4123-7T= (n.4123-7T=) c.3802-7T= (n.3802-7T=) c.3865-7T= (n.3865-7T=) n.273-1508T= c.3277-7T= (n.3277-7T=) c.3409-7T= (n.3409-7T=) c.3229-7T= (n.3229-7T=) c.3166-7T= (n.3166-7T=) c.3010-7T= (n.3010-7T=) c.2941-7T= (n.2941-7T=) | |
| 6 | g.33167324A>G | CA566425948 | COL11A2 | n.90-7T>C c.4123-7T>C (n.4123-7T>C) c.3802-7T>C (n.3802-7T>C) c.3865-7T>C (n.3865-7T>C) n.273-1508T>C c.3277-7T>C (n.3277-7T>C) c.3409-7T>C (n.3409-7T>C) c.3229-7T>C (n.3229-7T>C) c.3166-7T>C (n.3166-7T>C) c.3010-7T>C (n.3010-7T>C) c.2941-7T>C (n.2941-7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33167334_33167343del | CA2697553325 | COL11A2 | n.90-21_90-12del c.4123-21_4123-12del (n.4123-21_4123-12del) c.3802-21_3802-12del (n.3802-21_3802-12del) c.3865-21_3865-12del (n.3865-21_3865-12del) n.273-1522_273-1513del c.3277-21_3277-12del (n.3277-21_3277-12del) c.3409-21_3409-12del (n.3409-21_3409-12del) c.3229-21_3229-12del (n.3229-21_3229-12del) c.3166-21_3166-12del (n.3166-21_3166-12del) c.3010-21_3010-12del (n.3010-21_3010-12del) c.2941-21_2941-12del (n.2941-21_2941-12del) | ClinVar |
| 6 | g.33167334dup | CA2770563462 | COL11A2 | n.90-13dup c.4123-13dup (n.4123-13dup) c.3802-13dup (n.3802-13dup) c.3865-13dup (n.3865-13dup) n.273-1514dup c.3277-13dup (n.3277-13dup) c.3409-13dup (n.3409-13dup) c.3229-13dup (n.3229-13dup) c.3166-13dup (n.3166-13dup) c.3010-13dup (n.3010-13dup) c.2941-13dup (n.2941-13dup) | |
| 6 | g.33167334del | CA2678227461 | COL11A2 | n.90-13del c.4123-13del (n.4123-13del) c.3802-13del (n.3802-13del) c.3865-13del (n.3865-13del) n.273-1514del c.3277-13del (n.3277-13del) c.3409-13del (n.3409-13del) c.3229-13del (n.3229-13del) c.3166-13del (n.3166-13del) c.3010-13del (n.3010-13del) c.2941-13del (n.2941-13del) | gnomAD v4 |
| 6 | g.33167331G>A | CA3750213 | COL11A2 | n.90-14C>T c.4123-14C>T (n.4123-14C>T) c.3802-14C>T (n.3802-14C>T) c.3865-14C>T (n.3865-14C>T) n.273-1515C>T c.3277-14C>T (n.3277-14C>T) c.3409-14C>T (n.3409-14C>T) c.3229-14C>T (n.3229-14C>T) c.3166-14C>T (n.3166-14C>T) c.3010-14C>T (n.3010-14C>T) c.2941-14C>T (n.2941-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33167331G= | CA1619893232 | COL11A2 | n.90-14C= c.4123-14C= (n.4123-14C=) c.3802-14C= (n.3802-14C=) c.3865-14C= (n.3865-14C=) n.273-1515C= c.3277-14C= (n.3277-14C=) c.3409-14C= (n.3409-14C=) c.3229-14C= (n.3229-14C=) c.3166-14C= (n.3166-14C=) c.3010-14C= (n.3010-14C=) c.2941-14C= (n.2941-14C=) | |
| 6 | g.33167331G>T | CA2770563463 | COL11A2 | n.90-14C>A c.4123-14C>A (n.4123-14C>A) c.3802-14C>A (n.3802-14C>A) c.3865-14C>A (n.3865-14C>A) n.273-1515C>A c.3277-14C>A (n.3277-14C>A) c.3409-14C>A (n.3409-14C>A) c.3229-14C>A (n.3229-14C>A) c.3166-14C>A (n.3166-14C>A) c.3010-14C>A (n.3010-14C>A) c.2941-14C>A (n.2941-14C>A) |