| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977610G>A | CA384540511 | COL2A1 | c.2948C>T (p.Ala983Val) c.3155C>T (p.Ala1052Val) n.2241C>T c.3299C>T (p.Ala1100Val) c.3296C>T (p.Ala1099Val) c.2243C>T (p.Ala748Val) c.3089C>T (p.Ala1030Val) c.2609C>T (p.Ala870Val) | |
| 12 | g.47977610G>C | CA384540512 | COL2A1 | c.2948C>G (p.Ala983Gly) c.3155C>G (p.Ala1052Gly) n.2241C>G c.3299C>G (p.Ala1100Gly) c.3296C>G (p.Ala1099Gly) c.2243C>G (p.Ala748Gly) c.3089C>G (p.Ala1030Gly) c.2609C>G (p.Ala870Gly) | |
| 12 | g.47977610G>T | CA384540513 | COL2A1 | c.2948C>A (p.Ala983Asp) c.3155C>A (p.Ala1052Asp) n.2241C>A c.3299C>A (p.Ala1100Asp) c.3296C>A (p.Ala1099Asp) c.2243C>A (p.Ala748Asp) c.3089C>A (p.Ala1030Asp) c.2609C>A (p.Ala870Asp) | |
| 12 | g.47977611C>A | CA384540514 | COL2A1 | c.2947G>T (p.Ala983Ser) c.3154G>T (p.Ala1052Ser) n.2240G>T c.3298G>T (p.Ala1100Ser) c.3295G>T (p.Ala1099Ser) c.2242G>T (p.Ala748Ser) c.3088G>T (p.Ala1030Ser) c.2608G>T (p.Ala870Ser) | |
| 12 | g.47977611C>G | CA384540515 | COL2A1 | c.2947G>C (p.Ala983Pro) c.3154G>C (p.Ala1052Pro) n.2240G>C c.3298G>C (p.Ala1100Pro) c.3295G>C (p.Ala1099Pro) c.2242G>C (p.Ala748Pro) c.3088G>C (p.Ala1030Pro) c.2608G>C (p.Ala870Pro) | |
| 12 | g.47977611C>T | CA384540516 | COL2A1 | c.2947G>A (p.Ala983Thr) c.3154G>A (p.Ala1052Thr) n.2240G>A c.3298G>A (p.Ala1100Thr) c.3295G>A (p.Ala1099Thr) c.2242G>A (p.Ala748Thr) c.3088G>A (p.Ala1030Thr) c.2608G>A (p.Ala870Thr) | |
| 12 | g.47977612A>C | CA479454227 | COL2A1 | c.2946T>G (p.Ala982=) c.3153T>G (p.Ala1051=) n.2239T>G c.3297T>G (p.Ala1099=) c.3294T>G (p.Ala1098=) c.2241T>G (p.Ala747=) c.3087T>G (p.Ala1029=) c.2607T>G (p.Ala869=) | dbSNP |
| 12 | g.47977612A>G | CA479454229 | COL2A1 | c.2946T>C (p.Ala982=) c.3153T>C (p.Ala1051=) n.2239T>C c.3297T>C (p.Ala1099=) c.3294T>C (p.Ala1098=) c.2241T>C (p.Ala747=) c.3087T>C (p.Ala1029=) c.2607T>C (p.Ala869=) | |
| 12 | g.47977612A>T | CA479454231 | COL2A1 | c.2946T>A (p.Ala982=) c.3153T>A (p.Ala1051=) n.2239T>A c.3297T>A (p.Ala1099=) c.3294T>A (p.Ala1098=) c.2241T>A (p.Ala747=) c.3087T>A (p.Ala1029=) c.2607T>A (p.Ala869=) | |
| 12 | g.47977613G>A | CA384540517 | COL2A1 | c.2945C>T (p.Ala982Val) c.3152C>T (p.Ala1051Val) n.2238C>T c.3296C>T (p.Ala1099Val) c.3293C>T (p.Ala1098Val) c.2240C>T (p.Ala747Val) c.3086C>T (p.Ala1029Val) c.2606C>T (p.Ala869Val) | |
| 12 | g.47977613G>C | CA384540518 | COL2A1 | c.2945C>G (p.Ala982Gly) c.3152C>G (p.Ala1051Gly) n.2238C>G c.3296C>G (p.Ala1099Gly) c.3293C>G (p.Ala1098Gly) c.2240C>G (p.Ala747Gly) c.3086C>G (p.Ala1029Gly) c.2606C>G (p.Ala869Gly) | gnomAD v4 |
| 12 | g.47977613G>T | CA384540519 | COL2A1 | c.2945C>A (p.Ala982Asp) c.3152C>A (p.Ala1051Asp) n.2238C>A c.3296C>A (p.Ala1099Asp) c.3293C>A (p.Ala1098Asp) c.2240C>A (p.Ala747Asp) c.3086C>A (p.Ala1029Asp) c.2606C>A (p.Ala869Asp) | |
| 12 | g.47977614C>A | CA384540520 | COL2A1 | c.2944G>T (p.Ala982Ser) c.3151G>T (p.Ala1051Ser) n.2237G>T c.3295G>T (p.Ala1099Ser) c.3292G>T (p.Ala1098Ser) c.2239G>T (p.Ala747Ser) c.3085G>T (p.Ala1029Ser) c.2605G>T (p.Ala869Ser) | |
| 12 | g.47977614C= | CA2034476502 | COL2A1 | c.2944G= (p.Ala982=) c.3151G= (p.Ala1051=) n.2237G= c.3295G= (p.Ala1099=) c.3292G= (p.Ala1098=) c.2239G= (p.Ala747=) c.3085G= (p.Ala1029=) c.2605G= (p.Ala869=) | |
| 12 | g.47977614C>G | CA384540521 | COL2A1 | c.2944G>C (p.Ala982Pro) c.3151G>C (p.Ala1051Pro) n.2237G>C c.3295G>C (p.Ala1099Pro) c.3292G>C (p.Ala1098Pro) c.2239G>C (p.Ala747Pro) c.3085G>C (p.Ala1029Pro) c.2605G>C (p.Ala869Pro) | dbSNP |
| 12 | g.47977614C>T | CA6534867 | COL2A1 | c.2944G>A (p.Ala982Thr) c.3151G>A (p.Ala1051Thr) n.2237G>A c.3295G>A (p.Ala1099Thr) c.3292G>A (p.Ala1098Thr) c.2239G>A (p.Ala747Thr) c.3085G>A (p.Ala1029Thr) c.2605G>A (p.Ala869Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977615G>A | CA6534868 | COL2A1 | c.2943C>T (p.Gly981=) c.3150C>T (p.Gly1050=) n.2236C>T c.3294C>T (p.Gly1098=) c.3291C>T (p.Gly1097=) c.2238C>T (p.Gly746=) c.3084C>T (p.Gly1028=) c.2604C>T (p.Gly868=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977615G>C | CA479454243 | COL2A1 | c.2943C>G (p.Gly981=) c.3150C>G (p.Gly1050=) n.2236C>G c.3294C>G (p.Gly1098=) c.3291C>G (p.Gly1097=) c.2238C>G (p.Gly746=) c.3084C>G (p.Gly1028=) c.2604C>G (p.Gly868=) | |
| 12 | g.47977615G= | CA2034476503 | COL2A1 | c.2943C= (p.Gly981=) c.3150C= (p.Gly1050=) n.2236C= c.3294C= (p.Gly1098=) c.3291C= (p.Gly1097=) c.2238C= (p.Gly746=) c.3084C= (p.Gly1028=) c.2604C= (p.Gly868=) | |
| 12 | g.47977615G>T | CA479454245 | COL2A1 | c.2943C>A (p.Gly981=) c.3150C>A (p.Gly1050=) n.2236C>A c.3294C>A (p.Gly1098=) c.3291C>A (p.Gly1097=) c.2238C>A (p.Gly746=) c.3084C>A (p.Gly1028=) c.2604C>A (p.Gly868=) | |
| 12 | g.47977616C>A | CA384540522 | COL2A1 | c.2942G>T (p.Gly981Val) c.3149G>T (p.Gly1050Val) n.2235G>T c.3293G>T (p.Gly1098Val) c.3290G>T (p.Gly1097Val) c.2237G>T (p.Gly746Val) c.3083G>T (p.Gly1028Val) c.2603G>T (p.Gly868Val) | ClinVar dbSNP |
| 12 | g.47977616C= | CA2034476504 | COL2A1 | c.2942G= (p.Gly981=) c.3149G= (p.Gly1050=) n.2235G= c.3293G= (p.Gly1098=) c.3290G= (p.Gly1097=) c.2237G= (p.Gly746=) c.3083G= (p.Gly1028=) c.2603G= (p.Gly868=) | |
| 12 | g.47977616C>G | CA384540523 | COL2A1 | c.2942G>C (p.Gly981Ala) c.3149G>C (p.Gly1050Ala) n.2235G>C c.3293G>C (p.Gly1098Ala) c.3290G>C (p.Gly1097Ala) c.2237G>C (p.Gly746Ala) c.3083G>C (p.Gly1028Ala) c.2603G>C (p.Gly868Ala) | |
| 12 | g.47977616C>T | CA384540524 | COL2A1 | c.2942G>A (p.Gly981Asp) c.3149G>A (p.Gly1050Asp) n.2235G>A c.3293G>A (p.Gly1098Asp) c.3290G>A (p.Gly1097Asp) c.2237G>A (p.Gly746Asp) c.3083G>A (p.Gly1028Asp) c.2603G>A (p.Gly868Asp) | ClinVar dbSNP |
| 12 | g.47977617C>A | CA384540525 | COL2A1 | c.2941G>T (p.Gly981Cys) c.3148G>T (p.Gly1050Cys) n.2234G>T c.3292G>T (p.Gly1098Cys) c.3289G>T (p.Gly1097Cys) c.2236G>T (p.Gly746Cys) c.3082G>T (p.Gly1028Cys) c.2602G>T (p.Gly868Cys) | |
| 12 | g.47977617C>G | CA384540526 | COL2A1 | c.2941G>C (p.Gly981Arg) c.3148G>C (p.Gly1050Arg) n.2234G>C c.3292G>C (p.Gly1098Arg) c.3289G>C (p.Gly1097Arg) c.2236G>C (p.Gly746Arg) c.3082G>C (p.Gly1028Arg) c.2602G>C (p.Gly868Arg) | |
| 12 | g.47977617C>T | CA384540527 | COL2A1 | c.2941G>A (p.Gly981Ser) c.3148G>A (p.Gly1050Ser) n.2234G>A c.3292G>A (p.Gly1098Ser) c.3289G>A (p.Gly1097Ser) c.2236G>A (p.Gly746Ser) c.3082G>A (p.Gly1028Ser) c.2602G>A (p.Gly868Ser) | |
| 12 | g.47977618A= | CA2034476505 | COL2A1 | c.2940T= (p.Asp980=) c.3147T= (p.Asp1049=) n.2233T= c.3291T= (p.Asp1097=) c.3288T= (p.Asp1096=) c.2235T= (p.Asp745=) c.3081T= (p.Asp1027=) c.2601T= (p.Asp867=) | |
| 12 | g.47977618A>C | CA384540528 | COL2A1 | c.2940T>G (p.Asp980Glu) c.3147T>G (p.Asp1049Glu) n.2233T>G c.3291T>G (p.Asp1097Glu) c.3288T>G (p.Asp1096Glu) c.2235T>G (p.Asp745Glu) c.3081T>G (p.Asp1027Glu) c.2601T>G (p.Asp867Glu) | |
| 12 | g.47977618A>G | CA479454258 | COL2A1 | c.2940T>C (p.Asp980=) c.3147T>C (p.Asp1049=) n.2233T>C c.3291T>C (p.Asp1097=) c.3288T>C (p.Asp1096=) c.2235T>C (p.Asp745=) c.3081T>C (p.Asp1027=) c.2601T>C (p.Asp867=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977618A>T | CA384540529 | COL2A1 | c.2940T>A (p.Asp980Glu) c.3147T>A (p.Asp1049Glu) n.2233T>A c.3291T>A (p.Asp1097Glu) c.3288T>A (p.Asp1096Glu) c.2235T>A (p.Asp745Glu) c.3081T>A (p.Asp1027Glu) c.2601T>A (p.Asp867Glu) | |
| 12 | g.47977619T>A | CA384540530 | COL2A1 | c.2939A>T (p.Asp980Val) c.3146A>T (p.Asp1049Val) n.2232A>T c.3290A>T (p.Asp1097Val) c.3287A>T (p.Asp1096Val) c.2234A>T (p.Asp745Val) c.3080A>T (p.Asp1027Val) c.2600A>T (p.Asp867Val) | |
| 12 | g.47977619T>C | CA384540531 | COL2A1 | c.2939A>G (p.Asp980Gly) c.3146A>G (p.Asp1049Gly) n.2232A>G c.3290A>G (p.Asp1097Gly) c.3287A>G (p.Asp1096Gly) c.2234A>G (p.Asp745Gly) c.3080A>G (p.Asp1027Gly) c.2600A>G (p.Asp867Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977619T>G | CA384540532 | COL2A1 | c.2939A>C (p.Asp980Ala) c.3146A>C (p.Asp1049Ala) n.2232A>C c.3290A>C (p.Asp1097Ala) c.3287A>C (p.Asp1096Ala) c.2234A>C (p.Asp745Ala) c.3080A>C (p.Asp1027Ala) c.2600A>C (p.Asp867Ala) | |
| 12 | g.47977619T= | CA2034476506 | COL2A1 | c.2939A= (p.Asp980=) c.3146A= (p.Asp1049=) n.2232A= c.3290A= (p.Asp1097=) c.3287A= (p.Asp1096=) c.2234A= (p.Asp745=) c.3080A= (p.Asp1027=) c.2600A= (p.Asp867=) | |
| 12 | g.47977620C>A | CA384540533 | COL2A1 | c.2938G>T (p.Asp980Tyr) c.3145G>T (p.Asp1049Tyr) n.2231G>T c.3289G>T (p.Asp1097Tyr) c.3286G>T (p.Asp1096Tyr) c.2233G>T (p.Asp745Tyr) c.3079G>T (p.Asp1027Tyr) c.2599G>T (p.Asp867Tyr) | |
| 12 | g.47977620C= | CA2034476507 | COL2A1 | c.2938G= (p.Asp980=) c.3145G= (p.Asp1049=) n.2231G= c.3289G= (p.Asp1097=) c.3286G= (p.Asp1096=) c.2233G= (p.Asp745=) c.3079G= (p.Asp1027=) c.2599G= (p.Asp867=) | |
| 12 | g.47977620C>G | CA384540534 | COL2A1 | c.2938G>C (p.Asp980His) c.3145G>C (p.Asp1049His) n.2231G>C c.3289G>C (p.Asp1097His) c.3286G>C (p.Asp1096His) c.2233G>C (p.Asp745His) c.3079G>C (p.Asp1027His) c.2599G>C (p.Asp867His) | |
| 12 | g.47977620C>T | CA6534869 | COL2A1 | c.2938G>A (p.Asp980Asn) c.3145G>A (p.Asp1049Asn) n.2231G>A c.3289G>A (p.Asp1097Asn) c.3286G>A (p.Asp1096Asn) c.2233G>A (p.Asp745Asn) c.3079G>A (p.Asp1027Asn) c.2599G>A (p.Asp867Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47977621T>A | CA6534870 | COL2A1 | c.2937A>T (p.Arg979Ser) c.3144A>T (p.Arg1048Ser) n.2230A>T c.3288A>T (p.Arg1096Ser) c.3285A>T (p.Arg1095Ser) c.2232A>T (p.Arg744Ser) c.3078A>T (p.Arg1026Ser) c.2598A>T (p.Arg866Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977621T>C | CA479454271 | COL2A1 | c.2937A>G (p.Arg979=) c.3144A>G (p.Arg1048=) n.2230A>G c.3288A>G (p.Arg1096=) c.3285A>G (p.Arg1095=) c.2232A>G (p.Arg744=) c.3078A>G (p.Arg1026=) c.2598A>G (p.Arg866=) | ClinVar |
| 12 | g.47977621T>G | CA384540535 | COL2A1 | c.2937A>C (p.Arg979Ser) c.3144A>C (p.Arg1048Ser) n.2230A>C c.3288A>C (p.Arg1096Ser) c.3285A>C (p.Arg1095Ser) c.2232A>C (p.Arg744Ser) c.3078A>C (p.Arg1026Ser) c.2598A>C (p.Arg866Ser) | |
| 12 | g.47977621T= | CA2034476508 | COL2A1 | c.2937A= (p.Arg979=) c.3144A= (p.Arg1048=) n.2230A= c.3288A= (p.Arg1096=) c.3285A= (p.Arg1095=) c.2232A= (p.Arg744=) c.3078A= (p.Arg1026=) c.2598A= (p.Arg866=) | |
| 12 | g.47977622C>A | CA384540536 | COL2A1 | c.2936G>T (p.Arg979Ile) c.3143G>T (p.Arg1048Ile) n.2229G>T c.3287G>T (p.Arg1096Ile) c.3284G>T (p.Arg1095Ile) c.2231G>T (p.Arg744Ile) c.3077G>T (p.Arg1026Ile) c.2597G>T (p.Arg866Ile) | |
| 12 | g.47977622C>G | CA384540537 | COL2A1 | c.2936G>C (p.Arg979Thr) c.3143G>C (p.Arg1048Thr) n.2229G>C c.3287G>C (p.Arg1096Thr) c.3284G>C (p.Arg1095Thr) c.2231G>C (p.Arg744Thr) c.3077G>C (p.Arg1026Thr) c.2597G>C (p.Arg866Thr) | |
| 12 | g.47977622C>T | CA384540538 | COL2A1 | c.2936G>A (p.Arg979Lys) c.3143G>A (p.Arg1048Lys) n.2229G>A c.3287G>A (p.Arg1096Lys) c.3284G>A (p.Arg1095Lys) c.2231G>A (p.Arg744Lys) c.3077G>A (p.Arg1026Lys) c.2597G>A (p.Arg866Lys) | gnomAD v4 |
| 12 | g.47977623T>A | CA384540539 | COL2A1 | c.2935A>T (p.Arg979Ter) c.3142A>T (p.Arg1048Ter) n.2228A>T c.3286A>T (p.Arg1096Ter) c.3283A>T (p.Arg1095Ter) c.2230A>T (p.Arg744Ter) c.3076A>T (p.Arg1026Ter) c.2596A>T (p.Arg866Ter) | |
| 12 | g.47977623T>C | CA384540540 | COL2A1 | c.2935A>G (p.Arg979Gly) c.3142A>G (p.Arg1048Gly) n.2228A>G c.3286A>G (p.Arg1096Gly) c.3283A>G (p.Arg1095Gly) c.2230A>G (p.Arg744Gly) c.3076A>G (p.Arg1026Gly) c.2596A>G (p.Arg866Gly) | |
| 12 | g.47977623T>G | CA479454281 | COL2A1 | c.2935A>C (p.Arg979=) c.3142A>C (p.Arg1048=) n.2228A>C c.3286A>C (p.Arg1096=) c.3283A>C (p.Arg1095=) c.2230A>C (p.Arg744=) c.3076A>C (p.Arg1026=) c.2596A>C (p.Arg866=) | |
| 12 | g.47977624G>A | CA479454283 | COL2A1 | c.2934C>T (p.Gly978=) c.3141C>T (p.Gly1047=) n.2227C>T c.3285C>T (p.Gly1095=) c.3282C>T (p.Gly1094=) c.2229C>T (p.Gly743=) c.3075C>T (p.Gly1025=) c.2595C>T (p.Gly865=) |