| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977600C>A | CA384540494 | COL2A1 | c.2958G>T (p.Lys986Asn) c.3165G>T (p.Lys1055Asn) n.2251G>T c.3309G>T (p.Lys1103Asn) c.3306G>T (p.Lys1102Asn) c.2253G>T (p.Lys751Asn) c.3099G>T (p.Lys1033Asn) c.2619G>T (p.Lys873Asn) | |
| 12 | g.47977600C>G | CA384540493 | COL2A1 | c.2958G>C (p.Lys986Asn) c.3165G>C (p.Lys1055Asn) n.2251G>C c.3309G>C (p.Lys1103Asn) c.3306G>C (p.Lys1102Asn) c.2253G>C (p.Lys751Asn) c.3099G>C (p.Lys1033Asn) c.2619G>C (p.Lys873Asn) | |
| 12 | g.47977600C>T | CA479454174 | COL2A1 | c.2958G>A (p.Lys986=) c.3165G>A (p.Lys1055=) n.2251G>A c.3309G>A (p.Lys1103=) c.3306G>A (p.Lys1102=) c.2253G>A (p.Lys751=) c.3099G>A (p.Lys1033=) c.2619G>A (p.Lys873=) | |
| 12 | g.47977601T>A | CA384540495 | COL2A1 | c.2957A>T (p.Lys986Met) c.3164A>T (p.Lys1055Met) n.2250A>T c.3308A>T (p.Lys1103Met) c.3305A>T (p.Lys1102Met) c.2252A>T (p.Lys751Met) c.3098A>T (p.Lys1033Met) c.2618A>T (p.Lys873Met) | |
| 12 | g.47977601T>C | CA384540496 | COL2A1 | c.2957A>G (p.Lys986Arg) c.3164A>G (p.Lys1055Arg) n.2250A>G c.3308A>G (p.Lys1103Arg) c.3305A>G (p.Lys1102Arg) c.2252A>G (p.Lys751Arg) c.3098A>G (p.Lys1033Arg) c.2618A>G (p.Lys873Arg) | |
| 12 | g.47977601T>G | CA384540497 | COL2A1 | c.2957A>C (p.Lys986Thr) c.3164A>C (p.Lys1055Thr) n.2250A>C c.3308A>C (p.Lys1103Thr) c.3305A>C (p.Lys1102Thr) c.2252A>C (p.Lys751Thr) c.3098A>C (p.Lys1033Thr) c.2618A>C (p.Lys873Thr) | |
| 12 | g.47977602T>A | CA384540498 | COL2A1 | c.2956A>T (p.Lys986Ter) c.3163A>T (p.Lys1055Ter) n.2249A>T c.3307A>T (p.Lys1103Ter) c.3304A>T (p.Lys1102Ter) c.2251A>T (p.Lys751Ter) c.3097A>T (p.Lys1033Ter) c.2617A>T (p.Lys873Ter) | |
| 12 | g.47977602T>C | CA384540499 | COL2A1 | c.2956A>G (p.Lys986Glu) c.3163A>G (p.Lys1055Glu) n.2249A>G c.3307A>G (p.Lys1103Glu) c.3304A>G (p.Lys1102Glu) c.2251A>G (p.Lys751Glu) c.3097A>G (p.Lys1033Glu) c.2617A>G (p.Lys873Glu) | |
| 12 | g.47977602T>G | CA384540500 | COL2A1 | c.2956A>C (p.Lys986Gln) c.3163A>C (p.Lys1055Gln) n.2249A>C c.3307A>C (p.Lys1103Gln) c.3304A>C (p.Lys1102Gln) c.2251A>C (p.Lys751Gln) c.3097A>C (p.Lys1033Gln) c.2617A>C (p.Lys873Gln) | gnomAD v4 |
| 12 | g.47977603G>A | CA479454185 | COL2A1 | c.2955C>T (p.Val985=) c.3162C>T (p.Val1054=) n.2248C>T c.3306C>T (p.Val1102=) c.3303C>T (p.Val1101=) c.2250C>T (p.Val750=) c.3096C>T (p.Val1032=) c.2616C>T (p.Val872=) | |
| 12 | g.47977603G>C | CA479454184 | COL2A1 | c.2955C>G (p.Val985=) c.3162C>G (p.Val1054=) n.2248C>G c.3306C>G (p.Val1102=) c.3303C>G (p.Val1101=) c.2250C>G (p.Val750=) c.3096C>G (p.Val1032=) c.2616C>G (p.Val872=) | |
| 12 | g.47977603G>T | CA479454182 | COL2A1 | c.2955C>A (p.Val985=) c.3162C>A (p.Val1054=) n.2248C>A c.3306C>A (p.Val1102=) c.3303C>A (p.Val1101=) c.2250C>A (p.Val750=) c.3096C>A (p.Val1032=) c.2616C>A (p.Val872=) | |
| 12 | g.47977604A>C | CA384540501 | COL2A1 | c.2954T>G (p.Val985Gly) c.3161T>G (p.Val1054Gly) n.2247T>G c.3305T>G (p.Val1102Gly) c.3302T>G (p.Val1101Gly) c.2249T>G (p.Val750Gly) c.3095T>G (p.Val1032Gly) c.2615T>G (p.Val872Gly) | |
| 12 | g.47977604A>G | CA384540502 | COL2A1 | c.2954T>C (p.Val985Ala) c.3161T>C (p.Val1054Ala) n.2247T>C c.3305T>C (p.Val1102Ala) c.3302T>C (p.Val1101Ala) c.2249T>C (p.Val750Ala) c.3095T>C (p.Val1032Ala) c.2615T>C (p.Val872Ala) | |
| 12 | g.47977604A>T | CA384540503 | COL2A1 | c.2954T>A (p.Val985Asp) c.3161T>A (p.Val1054Asp) n.2247T>A c.3305T>A (p.Val1102Asp) c.3302T>A (p.Val1101Asp) c.2249T>A (p.Val750Asp) c.3095T>A (p.Val1032Asp) c.2615T>A (p.Val872Asp) | |
| 12 | g.47977605C>A | CA384540504 | COL2A1 | c.2953G>T (p.Val985Phe) c.3160G>T (p.Val1054Phe) n.2246G>T c.3304G>T (p.Val1102Phe) c.3301G>T (p.Val1101Phe) c.2248G>T (p.Val750Phe) c.3094G>T (p.Val1032Phe) c.2614G>T (p.Val872Phe) | |
| 12 | g.47977605C= | CA2034476498 | COL2A1 | c.2953G= (p.Val985=) c.3160G= (p.Val1054=) n.2246G= c.3304G= (p.Val1102=) c.3301G= (p.Val1101=) c.2248G= (p.Val750=) c.3094G= (p.Val1032=) c.2614G= (p.Val872=) | |
| 12 | g.47977605C>G | CA384540505 | COL2A1 | c.2953G>C (p.Val985Leu) c.3160G>C (p.Val1054Leu) n.2246G>C c.3304G>C (p.Val1102Leu) c.3301G>C (p.Val1101Leu) c.2248G>C (p.Val750Leu) c.3094G>C (p.Val1032Leu) c.2614G>C (p.Val872Leu) | gnomAD v4 |
| 12 | g.47977605C>T | CA236521162 | COL2A1 | c.2953G>A (p.Val985Ile) c.3160G>A (p.Val1054Ile) n.2246G>A c.3304G>A (p.Val1102Ile) c.3301G>A (p.Val1101Ile) c.2248G>A (p.Val750Ile) c.3094G>A (p.Val1032Ile) c.2614G>A (p.Val872Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977606T>A | CA479454199 | COL2A1 | c.2952A>T (p.Gly984=) c.3159A>T (p.Gly1053=) n.2245A>T c.3303A>T (p.Gly1101=) c.3300A>T (p.Gly1100=) c.2247A>T (p.Gly749=) c.3093A>T (p.Gly1031=) c.2613A>T (p.Gly871=) | |
| 12 | g.47977606T>C | CA6534866 | COL2A1 | c.2952A>G (p.Gly984=) c.3159A>G (p.Gly1053=) n.2245A>G c.3303A>G (p.Gly1101=) c.3300A>G (p.Gly1100=) c.2247A>G (p.Gly749=) c.3093A>G (p.Gly1031=) c.2613A>G (p.Gly871=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977606T>G | CA479454201 | COL2A1 | c.2952A>C (p.Gly984=) c.3159A>C (p.Gly1053=) n.2245A>C c.3303A>C (p.Gly1101=) c.3300A>C (p.Gly1100=) c.2247A>C (p.Gly749=) c.3093A>C (p.Gly1031=) c.2613A>C (p.Gly871=) | |
| 12 | g.47977606T= | CA2034476499 | COL2A1 | c.2952A= (p.Gly984=) c.3159A= (p.Gly1053=) n.2245A= c.3303A= (p.Gly1101=) c.3300A= (p.Gly1100=) c.2247A= (p.Gly749=) c.3093A= (p.Gly1031=) c.2613A= (p.Gly871=) | |
| 12 | g.47977607C>A | CA384540506 | COL2A1 | c.2951G>T (p.Gly984Val) c.3158G>T (p.Gly1053Val) n.2244G>T c.3302G>T (p.Gly1101Val) c.3299G>T (p.Gly1100Val) c.2246G>T (p.Gly749Val) c.3092G>T (p.Gly1031Val) c.2612G>T (p.Gly871Val) | |
| 12 | g.47977607C= | CA2034476500 | COL2A1 | c.2951G= (p.Gly984=) c.3158G= (p.Gly1053=) n.2244G= c.3302G= (p.Gly1101=) c.3299G= (p.Gly1100=) c.2246G= (p.Gly749=) c.3092G= (p.Gly1031=) c.2612G= (p.Gly871=) | |
| 12 | g.47977607C>G | CA384540507 | COL2A1 | c.2951G>C (p.Gly984Ala) c.3158G>C (p.Gly1053Ala) n.2244G>C c.3302G>C (p.Gly1101Ala) c.3299G>C (p.Gly1100Ala) c.2246G>C (p.Gly749Ala) c.3092G>C (p.Gly1031Ala) c.2612G>C (p.Gly871Ala) | ClinVar |
| 12 | g.47977607C>T | CA250668 | COL2A1 | c.2951G>A (p.Gly984Glu) c.3158G>A (p.Gly1053Glu) n.2244G>A c.3302G>A (p.Gly1101Glu) c.3299G>A (p.Gly1100Glu) c.2246G>A (p.Gly749Glu) c.3092G>A (p.Gly1031Glu) c.2612G>A (p.Gly871Glu) | ClinVar dbSNP |
| 12 | g.47977608C>A | CA384540510 | COL2A1 | c.2950G>T (p.Gly984Ter) c.3157G>T (p.Gly1053Ter) n.2243G>T c.3301G>T (p.Gly1101Ter) c.3298G>T (p.Gly1100Ter) c.2245G>T (p.Gly749Ter) c.3091G>T (p.Gly1031Ter) c.2611G>T (p.Gly871Ter) | |
| 12 | g.47977608C= | CA2034476501 | COL2A1 | c.2950G= (p.Gly984=) c.3157G= (p.Gly1053=) n.2243G= c.3301G= (p.Gly1101=) c.3298G= (p.Gly1100=) c.2245G= (p.Gly749=) c.3091G= (p.Gly1031=) c.2611G= (p.Gly871=) | |
| 12 | g.47977608C>G | CA384540508 | COL2A1 | c.2950G>C (p.Gly984Arg) c.3157G>C (p.Gly1053Arg) n.2243G>C c.3301G>C (p.Gly1101Arg) c.3298G>C (p.Gly1100Arg) c.2245G>C (p.Gly749Arg) c.3091G>C (p.Gly1031Arg) c.2611G>C (p.Gly871Arg) | |
| 12 | g.47977608C>T | CA384540509 | COL2A1 | c.2950G>A (p.Gly984Arg) c.3157G>A (p.Gly1053Arg) n.2243G>A c.3301G>A (p.Gly1101Arg) c.3298G>A (p.Gly1100Arg) c.2245G>A (p.Gly749Arg) c.3091G>A (p.Gly1031Arg) c.2611G>A (p.Gly871Arg) | ClinVar dbSNP |
| 12 | g.47977609A>C | CA479454216 | COL2A1 | c.2949T>G (p.Ala983=) c.3156T>G (p.Ala1052=) n.2242T>G c.3300T>G (p.Ala1100=) c.3297T>G (p.Ala1099=) c.2244T>G (p.Ala748=) c.3090T>G (p.Ala1030=) c.2610T>G (p.Ala870=) | |
| 12 | g.47977609A>G | CA479454217 | COL2A1 | c.2949T>C (p.Ala983=) c.3156T>C (p.Ala1052=) n.2242T>C c.3300T>C (p.Ala1100=) c.3297T>C (p.Ala1099=) c.2244T>C (p.Ala748=) c.3090T>C (p.Ala1030=) c.2610T>C (p.Ala870=) | |
| 12 | g.47977609A>T | CA479454218 | COL2A1 | c.2949T>A (p.Ala983=) c.3156T>A (p.Ala1052=) n.2242T>A c.3300T>A (p.Ala1100=) c.3297T>A (p.Ala1099=) c.2244T>A (p.Ala748=) c.3090T>A (p.Ala1030=) c.2610T>A (p.Ala870=) | |
| 12 | g.47977609dup | CA16042898 | COL2A1 | c.2949dup (p.Gly984TrpfsTer5) c.3156dup (p.Gly1053TrpfsTer5) n.2242dup c.3300dup (p.Gly1101TrpfsTer5) c.3297dup (p.Gly1100TrpfsTer5) c.2244dup (p.Gly749TrpfsTer5) c.3090dup (p.Gly1031TrpfsTer5) c.2610dup (p.Gly871TrpfsTer5) | ClinVar dbSNP |
| 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) | ClinVar 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=) | |
| 12 | g.47977624G>C | CA479454285 | COL2A1 | c.2934C>G (p.Gly978=) c.3141C>G (p.Gly1047=) n.2227C>G c.3285C>G (p.Gly1095=) c.3282C>G (p.Gly1094=) c.2229C>G (p.Gly743=) c.3075C>G (p.Gly1025=) c.2595C>G (p.Gly865=) | |
| 12 | g.47977624G>T | CA479454288 | COL2A1 | c.2934C>A (p.Gly978=) c.3141C>A (p.Gly1047=) n.2227C>A c.3285C>A (p.Gly1095=) c.3282C>A (p.Gly1094=) c.2229C>A (p.Gly743=) c.3075C>A (p.Gly1025=) c.2595C>A (p.Gly865=) | |
| 12 | g.47977625C>A | CA384540541 | COL2A1 | c.2933G>T (p.Gly978Val) c.3140G>T (p.Gly1047Val) n.2226G>T c.3284G>T (p.Gly1095Val) c.3281G>T (p.Gly1094Val) c.2228G>T (p.Gly743Val) c.3074G>T (p.Gly1025Val) c.2594G>T (p.Gly865Val) | |
| 12 | g.47977625C>G | CA384540542 | COL2A1 | c.2933G>C (p.Gly978Ala) c.3140G>C (p.Gly1047Ala) n.2226G>C c.3284G>C (p.Gly1095Ala) c.3281G>C (p.Gly1094Ala) c.2228G>C (p.Gly743Ala) c.3074G>C (p.Gly1025Ala) c.2594G>C (p.Gly865Ala) | |
| 12 | g.47977625C>T | CA384540543 | COL2A1 | c.2933G>A (p.Gly978Asp) c.3140G>A (p.Gly1047Asp) n.2226G>A c.3284G>A (p.Gly1095Asp) c.3281G>A (p.Gly1094Asp) c.2228G>A (p.Gly743Asp) c.3074G>A (p.Gly1025Asp) c.2594G>A (p.Gly865Asp) | |
| 12 | g.47977626C>A | CA384540544 | COL2A1 | c.2932G>T (p.Gly978Cys) c.3139G>T (p.Gly1047Cys) n.2225G>T c.3283G>T (p.Gly1095Cys) c.3280G>T (p.Gly1094Cys) c.2227G>T (p.Gly743Cys) c.3073G>T (p.Gly1025Cys) c.2593G>T (p.Gly865Cys) | |
| 12 | g.47977626C= | CA2034476509 | COL2A1 | c.2932G= (p.Gly978=) c.3139G= (p.Gly1047=) n.2225G= c.3283G= (p.Gly1095=) c.3280G= (p.Gly1094=) c.2227G= (p.Gly743=) c.3073G= (p.Gly1025=) c.2593G= (p.Gly865=) | |
| 12 | g.47977626C>G | CA384540545 | COL2A1 | c.2932G>C (p.Gly978Arg) c.3139G>C (p.Gly1047Arg) n.2225G>C c.3283G>C (p.Gly1095Arg) c.3280G>C (p.Gly1094Arg) c.2227G>C (p.Gly743Arg) c.3073G>C (p.Gly1025Arg) c.2593G>C (p.Gly865Arg) | |
| 12 | g.47977626C>T | CA384540546 | COL2A1 | c.2932G>A (p.Gly978Ser) c.3139G>A (p.Gly1047Ser) n.2225G>A c.3283G>A (p.Gly1095Ser) c.3280G>A (p.Gly1094Ser) c.2227G>A (p.Gly743Ser) c.3073G>A (p.Gly1025Ser) c.2593G>A (p.Gly865Ser) | ClinVar dbSNP |
| 12 | g.47977626_47977627delinsCA | CA2034476510 | COL2A1 | c.2931_2932delinsTG (p.Pro977=) c.3138_3139delinsTG (p.Pro1046=) n.2224_2225delinsTG c.3282_3283delinsTG (p.Pro1094=) c.3279_3280delinsTG (p.Pro1093=) c.2226_2227delinsTG (p.Pro742=) c.3072_3073delinsTG (p.Pro1024=) c.2592_2593delinsTG (p.Pro864=) | |
| 12 | g.47977627del | CA281745 | COL2A1 | c.2931del (p.Gly978AlafsTer?) c.3138del (p.Gly1047AlafsTer?) n.2224del c.3282del (p.Gly1095AlafsTer?) c.3279del (p.Gly1094AlafsTer?) c.2226del (p.Gly743AlafsTer?) c.3072del (p.Gly1025AlafsTer?) c.2592del (p.Gly865AlafsTer?) | ClinVar dbSNP |
| 12 | g.47977627A>C | CA479454301 | COL2A1 | c.2931T>G (p.Pro977=) c.3138T>G (p.Pro1046=) n.2224T>G c.3282T>G (p.Pro1094=) c.3279T>G (p.Pro1093=) c.2226T>G (p.Pro742=) c.3072T>G (p.Pro1024=) c.2592T>G (p.Pro864=) | |
| 12 | g.47977627A>G | CA479454298 | COL2A1 | c.2931T>C (p.Pro977=) c.3138T>C (p.Pro1046=) n.2224T>C c.3282T>C (p.Pro1094=) c.3279T>C (p.Pro1093=) c.2226T>C (p.Pro742=) c.3072T>C (p.Pro1024=) c.2592T>C (p.Pro864=) | |
| 12 | g.47977627A>T | CA479454299 | COL2A1 | c.2931T>A (p.Pro977=) c.3138T>A (p.Pro1046=) n.2224T>A c.3282T>A (p.Pro1094=) c.3279T>A (p.Pro1093=) c.2226T>A (p.Pro742=) c.3072T>A (p.Pro1024=) c.2592T>A (p.Pro864=) | |
| 12 | g.47977627_47977628delinsAG | CA2034476511 | COL2A1 | c.2930_2931delinsCT (p.Pro977=) c.3137_3138delinsCT (p.Pro1046=) n.2223_2224delinsCT c.3281_3282delinsCT (p.Pro1094=) c.3278_3279delinsCT (p.Pro1093=) c.2225_2226delinsCT (p.Pro742=) c.3071_3072delinsCT (p.Pro1024=) c.2591_2592delinsCT (p.Pro864=) | |
| 12 | g.47977628G>A | CA384540548 | COL2A1 | c.2930C>T (p.Pro977Leu) c.3137C>T (p.Pro1046Leu) n.2223C>T c.3281C>T (p.Pro1094Leu) c.3278C>T (p.Pro1093Leu) c.2225C>T (p.Pro742Leu) c.3071C>T (p.Pro1024Leu) c.2591C>T (p.Pro864Leu) | ClinVar |
| 12 | g.47977628G>C | CA6534871 | COL2A1 | c.2930C>G (p.Pro977Arg) c.3137C>G (p.Pro1046Arg) n.2223C>G c.3281C>G (p.Pro1094Arg) c.3278C>G (p.Pro1093Arg) c.2225C>G (p.Pro742Arg) c.3071C>G (p.Pro1024Arg) c.2591C>G (p.Pro864Arg) | dbSNP ExAC gnomAD v2 |
| 12 | g.47977628G= | CA2034476512 | COL2A1 | c.2930C= (p.Pro977=) c.3137C= (p.Pro1046=) n.2223C= c.3281C= (p.Pro1094=) c.3278C= (p.Pro1093=) c.2225C= (p.Pro742=) c.3071C= (p.Pro1024=) c.2591C= (p.Pro864=) | |
| 12 | g.47977628G>T | CA384540547 | COL2A1 | c.2930C>A (p.Pro977His) c.3137C>A (p.Pro1046His) n.2223C>A c.3281C>A (p.Pro1094His) c.3278C>A (p.Pro1093His) c.2225C>A (p.Pro742His) c.3071C>A (p.Pro1024His) c.2591C>A (p.Pro864His) | |
| 12 | g.47977633dup | CA2529301832 | COL2A1 | c.2930dup (p.Gly978TrpfsTer11) c.3137dup (p.Gly1047TrpfsTer11) n.2223dup c.3281dup (p.Gly1095TrpfsTer11) c.3278dup (p.Gly1094TrpfsTer11) c.2225dup (p.Gly743TrpfsTer11) c.3071dup (p.Gly1025TrpfsTer11) c.2591dup (p.Gly865TrpfsTer11) | ClinVar |
| 12 | g.47977633del | CA1139662612 | COL2A1 | c.2930del (p.Pro977LeufsTer?) c.3137del (p.Pro1046LeufsTer?) n.2223del c.3281del (p.Pro1094LeufsTer?) c.3278del (p.Pro1093LeufsTer?) c.2225del (p.Pro742LeufsTer?) c.3071del (p.Pro1024LeufsTer?) c.2591del (p.Pro864LeufsTer?) | ClinVar dbSNP |
| 12 | g.47977629G>A | CA384540549 | COL2A1 | c.2929C>T (p.Pro977Ser) c.3136C>T (p.Pro1046Ser) n.2222C>T c.3280C>T (p.Pro1094Ser) c.3277C>T (p.Pro1093Ser) c.2224C>T (p.Pro742Ser) c.3070C>T (p.Pro1024Ser) c.2590C>T (p.Pro864Ser) | ClinVar dbSNP |
| 12 | g.47977629G>C | CA6534872 | COL2A1 | c.2929C>G (p.Pro977Ala) c.3136C>G (p.Pro1046Ala) n.2222C>G c.3280C>G (p.Pro1094Ala) c.3277C>G (p.Pro1093Ala) c.2224C>G (p.Pro742Ala) c.3070C>G (p.Pro1024Ala) c.2590C>G (p.Pro864Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977629G= | CA2034476513 | COL2A1 | c.2929C= (p.Pro977=) c.3136C= (p.Pro1046=) n.2222C= c.3280C= (p.Pro1094=) c.3277C= (p.Pro1093=) c.2224C= (p.Pro742=) c.3070C= (p.Pro1024=) c.2590C= (p.Pro864=) | |
| 12 | g.47977629G>T | CA384540550 | COL2A1 | c.2929C>A (p.Pro977Thr) c.3136C>A (p.Pro1046Thr) n.2222C>A c.3280C>A (p.Pro1094Thr) c.3277C>A (p.Pro1093Thr) c.2224C>A (p.Pro742Thr) c.3070C>A (p.Pro1024Thr) c.2590C>A (p.Pro864Thr) | |
| 12 | g.47977630G>A | CA479454313 | COL2A1 | c.2928C>T (p.Pro976=) c.3135C>T (p.Pro1045=) n.2221C>T c.3279C>T (p.Pro1093=) c.3276C>T (p.Pro1092=) c.2223C>T (p.Pro741=) c.3069C>T (p.Pro1023=) c.2589C>T (p.Pro863=) | |
| 12 | g.47977630G>C | CA479454312 | COL2A1 | c.2928C>G (p.Pro976=) c.3135C>G (p.Pro1045=) n.2221C>G c.3279C>G (p.Pro1093=) c.3276C>G (p.Pro1092=) c.2223C>G (p.Pro741=) c.3069C>G (p.Pro1023=) c.2589C>G (p.Pro863=) | |
| 12 | g.47977630G>T | CA479454310 | COL2A1 | c.2928C>A (p.Pro976=) c.3135C>A (p.Pro1045=) n.2221C>A c.3279C>A (p.Pro1093=) c.3276C>A (p.Pro1092=) c.2223C>A (p.Pro741=) c.3069C>A (p.Pro1023=) c.2589C>A (p.Pro863=) | |
| 12 | g.47977631G>A | CA384540551 | COL2A1 | c.2927C>T (p.Pro976Leu) c.3134C>T (p.Pro1045Leu) n.2220C>T c.3278C>T (p.Pro1093Leu) c.3275C>T (p.Pro1092Leu) c.2222C>T (p.Pro741Leu) c.3068C>T (p.Pro1023Leu) c.2588C>T (p.Pro863Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977631G>C | CA384540552 | COL2A1 | c.2927C>G (p.Pro976Arg) c.3134C>G (p.Pro1045Arg) n.2220C>G c.3278C>G (p.Pro1093Arg) c.3275C>G (p.Pro1092Arg) c.2222C>G (p.Pro741Arg) c.3068C>G (p.Pro1023Arg) c.2588C>G (p.Pro863Arg) | |
| 12 | g.47977631G= | CA2034476514 | COL2A1 | c.2927C= (p.Pro976=) c.3134C= (p.Pro1045=) n.2220C= c.3278C= (p.Pro1093=) c.3275C= (p.Pro1092=) c.2222C= (p.Pro741=) c.3068C= (p.Pro1023=) c.2588C= (p.Pro863=) | |
| 12 | g.47977631G>T | CA384540553 | COL2A1 | c.2927C>A (p.Pro976His) c.3134C>A (p.Pro1045His) n.2220C>A c.3278C>A (p.Pro1093His) c.3275C>A (p.Pro1092His) c.2222C>A (p.Pro741His) c.3068C>A (p.Pro1023His) c.2588C>A (p.Pro863His) | |
| 12 | g.47977632G>A | CA384540554 | COL2A1 | c.2926C>T (p.Pro976Ser) c.3133C>T (p.Pro1045Ser) n.2219C>T c.3277C>T (p.Pro1093Ser) c.3274C>T (p.Pro1092Ser) c.2221C>T (p.Pro741Ser) c.3067C>T (p.Pro1023Ser) c.2587C>T (p.Pro863Ser) | dbSNP gnomAD v2 |
| 12 | g.47977632G>C | CA6534873 | COL2A1 | c.2926C>G (p.Pro976Ala) c.3133C>G (p.Pro1045Ala) n.2219C>G c.3277C>G (p.Pro1093Ala) c.3274C>G (p.Pro1092Ala) c.2221C>G (p.Pro741Ala) c.3067C>G (p.Pro1023Ala) c.2587C>G (p.Pro863Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977632G= | CA2034476515 | COL2A1 | c.2926C= (p.Pro976=) c.3133C= (p.Pro1045=) n.2219C= c.3277C= (p.Pro1093=) c.3274C= (p.Pro1092=) c.2221C= (p.Pro741=) c.3067C= (p.Pro1023=) c.2587C= (p.Pro863=) | |
| 12 | g.47977632G>T | CA384540555 | COL2A1 | c.2926C>A (p.Pro976Thr) c.3133C>A (p.Pro1045Thr) n.2219C>A c.3277C>A (p.Pro1093Thr) c.3274C>A (p.Pro1092Thr) c.2221C>A (p.Pro741Thr) c.3067C>A (p.Pro1023Thr) c.2587C>A (p.Pro863Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977633G>A | CA479454324 | COL2A1 | c.2925C>T (p.Gly975=) c.3132C>T (p.Gly1044=) n.2218C>T c.3276C>T (p.Gly1092=) c.3273C>T (p.Gly1091=) c.2220C>T (p.Gly740=) c.3066C>T (p.Gly1022=) c.2586C>T (p.Gly862=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977633G>C | CA6534874 | COL2A1 | c.2925C>G (p.Gly975=) c.3132C>G (p.Gly1044=) n.2218C>G c.3276C>G (p.Gly1092=) c.3273C>G (p.Gly1091=) c.2220C>G (p.Gly740=) c.3066C>G (p.Gly1022=) c.2586C>G (p.Gly862=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977633G= | CA2034476516 | COL2A1 | c.2925C= (p.Gly975=) c.3132C= (p.Gly1044=) n.2218C= c.3276C= (p.Gly1092=) c.3273C= (p.Gly1091=) c.2220C= (p.Gly740=) c.3066C= (p.Gly1022=) c.2586C= (p.Gly862=) | |
| 12 | g.47977633G>T | CA479454322 | COL2A1 | c.2925C>A (p.Gly975=) c.3132C>A (p.Gly1044=) n.2218C>A c.3276C>A (p.Gly1092=) c.3273C>A (p.Gly1091=) c.2220C>A (p.Gly740=) c.3066C>A (p.Gly1022=) c.2586C>A (p.Gly862=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977634C>A | CA384540556 | COL2A1 | c.2924G>T (p.Gly975Val) c.3131G>T (p.Gly1044Val) n.2217G>T c.3275G>T (p.Gly1092Val) c.3272G>T (p.Gly1091Val) c.2219G>T (p.Gly740Val) c.3065G>T (p.Gly1022Val) c.2585G>T (p.Gly862Val) | |
| 12 | g.47977634C= | CA2034476517 | COL2A1 | c.2924G= (p.Gly975=) c.3131G= (p.Gly1044=) n.2217G= c.3275G= (p.Gly1092=) c.3272G= (p.Gly1091=) c.2219G= (p.Gly740=) c.3065G= (p.Gly1022=) c.2585G= (p.Gly862=) | |
| 12 | g.47977634C>G | CA384540557 | COL2A1 | c.2924G>C (p.Gly975Ala) c.3131G>C (p.Gly1044Ala) n.2217G>C c.3275G>C (p.Gly1092Ala) c.3272G>C (p.Gly1091Ala) c.2219G>C (p.Gly740Ala) c.3065G>C (p.Gly1022Ala) c.2585G>C (p.Gly862Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977634C>T | CA384540558 | COL2A1 | c.2924G>A (p.Gly975Asp) c.3131G>A (p.Gly1044Asp) n.2217G>A c.3275G>A (p.Gly1092Asp) c.3272G>A (p.Gly1091Asp) c.2219G>A (p.Gly740Asp) c.3065G>A (p.Gly1022Asp) c.2585G>A (p.Gly862Asp) | |
| 12 | g.47977635del | CA2580085504 | COL2A1 | c.2924del (p.Gly975AlafsTer?) c.3131del (p.Gly1044AlafsTer?) n.2217del c.3275del (p.Gly1092AlafsTer?) c.3272del (p.Gly1091AlafsTer?) c.2219del (p.Gly740AlafsTer?) c.3065del (p.Gly1022AlafsTer?) c.2585del (p.Gly862AlafsTer?) | ClinVar |
| 12 | g.47977635C>A | CA384540559 | COL2A1 | c.2923G>T (p.Gly975Cys) c.3130G>T (p.Gly1044Cys) n.2216G>T c.3274G>T (p.Gly1092Cys) c.3271G>T (p.Gly1091Cys) c.2218G>T (p.Gly740Cys) c.3064G>T (p.Gly1022Cys) c.2584G>T (p.Gly862Cys) | |
| 12 | g.47977635C>G | CA384540561 | COL2A1 | c.2923G>C (p.Gly975Arg) c.3130G>C (p.Gly1044Arg) n.2216G>C c.3274G>C (p.Gly1092Arg) c.3271G>C (p.Gly1091Arg) c.2218G>C (p.Gly740Arg) c.3064G>C (p.Gly1022Arg) c.2584G>C (p.Gly862Arg) | |
| 12 | g.47977635C>T | CA384540560 | COL2A1 | c.2923G>A (p.Gly975Ser) c.3130G>A (p.Gly1044Ser) n.2216G>A c.3274G>A (p.Gly1092Ser) c.3271G>A (p.Gly1091Ser) c.2218G>A (p.Gly740Ser) c.3064G>A (p.Gly1022Ser) c.2584G>A (p.Gly862Ser) | ClinVar dbSNP |
| 12 | g.47977636A>C | CA384540562 | COL2A1 | c.2922T>G (p.Asp974Glu) c.3129T>G (p.Asp1043Glu) n.2215T>G c.3273T>G (p.Asp1091Glu) c.3270T>G (p.Asp1090Glu) c.2217T>G (p.Asp739Glu) c.3063T>G (p.Asp1021Glu) c.2583T>G (p.Asp861Glu) | |
| 12 | g.47977636A>G | CA479454334 | COL2A1 | c.2922T>C (p.Asp974=) c.3129T>C (p.Asp1043=) n.2215T>C c.3273T>C (p.Asp1091=) c.3270T>C (p.Asp1090=) c.2217T>C (p.Asp739=) c.3063T>C (p.Asp1021=) c.2583T>C (p.Asp861=) | gnomAD v4 |
| 12 | g.47977636A>T | CA384540563 | COL2A1 | c.2922T>A (p.Asp974Glu) c.3129T>A (p.Asp1043Glu) n.2215T>A c.3273T>A (p.Asp1091Glu) c.3270T>A (p.Asp1090Glu) c.2217T>A (p.Asp739Glu) c.3063T>A (p.Asp1021Glu) c.2583T>A (p.Asp861Glu) | |
| 12 | g.47977637T>A | CA384540564 | COL2A1 | c.2921A>T (p.Asp974Val) c.3128A>T (p.Asp1043Val) n.2214A>T c.3272A>T (p.Asp1091Val) c.3269A>T (p.Asp1090Val) c.2216A>T (p.Asp739Val) c.3062A>T (p.Asp1021Val) c.2582A>T (p.Asp861Val) | |
| 12 | g.47977637T>C | CA384540566 | COL2A1 | c.2921A>G (p.Asp974Gly) c.3128A>G (p.Asp1043Gly) n.2214A>G c.3272A>G (p.Asp1091Gly) c.3269A>G (p.Asp1090Gly) c.2216A>G (p.Asp739Gly) c.3062A>G (p.Asp1021Gly) c.2582A>G (p.Asp861Gly) | |
| 12 | g.47977637T>G | CA384540565 | COL2A1 | c.2921A>C (p.Asp974Ala) c.3128A>C (p.Asp1043Ala) n.2214A>C c.3272A>C (p.Asp1091Ala) c.3269A>C (p.Asp1090Ala) c.2216A>C (p.Asp739Ala) c.3062A>C (p.Asp1021Ala) c.2582A>C (p.Asp861Ala) | |
| 12 | g.47977638C>A | CA384540567 | COL2A1 | c.2920G>T (p.Asp974Tyr) c.3127G>T (p.Asp1043Tyr) n.2213G>T c.3271G>T (p.Asp1091Tyr) c.3268G>T (p.Asp1090Tyr) c.2215G>T (p.Asp739Tyr) c.3061G>T (p.Asp1021Tyr) c.2581G>T (p.Asp861Tyr) | |
| 12 | g.47977638C>G | CA384540568 | COL2A1 | c.2920G>C (p.Asp974His) c.3127G>C (p.Asp1043His) n.2213G>C c.3271G>C (p.Asp1091His) c.3268G>C (p.Asp1090His) c.2215G>C (p.Asp739His) c.3061G>C (p.Asp1021His) c.2581G>C (p.Asp861His) | |
| 12 | g.47977638C>T | CA384540569 | COL2A1 | c.2920G>A (p.Asp974Asn) c.3127G>A (p.Asp1043Asn) n.2213G>A c.3271G>A (p.Asp1091Asn) c.3268G>A (p.Asp1090Asn) c.2215G>A (p.Asp739Asn) c.3061G>A (p.Asp1021Asn) c.2581G>A (p.Asp861Asn) | |
| 12 | g.47977639A>C | CA479454344 | COL2A1 | c.2919T>G (p.Ala973=) c.3126T>G (p.Ala1042=) n.2212T>G c.3270T>G (p.Ala1090=) c.3267T>G (p.Ala1089=) c.2214T>G (p.Ala738=) c.3060T>G (p.Ala1020=) c.2580T>G (p.Ala860=) | |
| 12 | g.47977639A>G | CA479454346 | COL2A1 | c.2919T>C (p.Ala973=) c.3126T>C (p.Ala1042=) n.2212T>C c.3270T>C (p.Ala1090=) c.3267T>C (p.Ala1089=) c.2214T>C (p.Ala738=) c.3060T>C (p.Ala1020=) c.2580T>C (p.Ala860=) | |
| 12 | g.47977639A>T | CA479454347 | COL2A1 | c.2919T>A (p.Ala973=) c.3126T>A (p.Ala1042=) n.2212T>A c.3270T>A (p.Ala1090=) c.3267T>A (p.Ala1089=) c.2214T>A (p.Ala738=) c.3060T>A (p.Ala1020=) c.2580T>A (p.Ala860=) | |
| 12 | g.47977640G>A | CA384540570 | COL2A1 | c.2918C>T (p.Ala973Val) c.3125C>T (p.Ala1042Val) n.2211C>T c.3269C>T (p.Ala1090Val) c.3266C>T (p.Ala1089Val) c.2213C>T (p.Ala738Val) c.3059C>T (p.Ala1020Val) c.2579C>T (p.Ala860Val) | |
| 12 | g.47977640G>C | CA384540571 | COL2A1 | c.2918C>G (p.Ala973Gly) c.3125C>G (p.Ala1042Gly) n.2211C>G c.3269C>G (p.Ala1090Gly) c.3266C>G (p.Ala1089Gly) c.2213C>G (p.Ala738Gly) c.3059C>G (p.Ala1020Gly) c.2579C>G (p.Ala860Gly) | |
| 12 | g.47977640G>T | CA384540572 | COL2A1 | c.2918C>A (p.Ala973Asp) c.3125C>A (p.Ala1042Asp) n.2211C>A c.3269C>A (p.Ala1090Asp) c.3266C>A (p.Ala1089Asp) c.2213C>A (p.Ala738Asp) c.3059C>A (p.Ala1020Asp) c.2579C>A (p.Ala860Asp) | |
| 12 | g.47977640_47977643dup | CA2499221657 | COL2A1 | c.2915_2918dup (p.Asp974CysfsTer2) c.3122_3125dup (p.Asp1043CysfsTer2) n.2208_2211dup c.3266_3269dup (p.Asp1091CysfsTer2) c.3263_3266dup (p.Asp1090CysfsTer2) c.2210_2213dup (p.Asp739CysfsTer2) c.3056_3059dup (p.Asp1021CysfsTer2) c.2576_2579dup (p.Asp861CysfsTer2) | ClinVar dbSNP |
| 12 | g.47977641C>A | CA384540573 | COL2A1 | c.2917G>T (p.Ala973Ser) c.3124G>T (p.Ala1042Ser) n.2210G>T c.3268G>T (p.Ala1090Ser) c.3265G>T (p.Ala1089Ser) c.2212G>T (p.Ala738Ser) c.3058G>T (p.Ala1020Ser) c.2578G>T (p.Ala860Ser) | |
| 12 | g.47977641C>G | CA384540574 | COL2A1 | c.2917G>C (p.Ala973Pro) c.3124G>C (p.Ala1042Pro) n.2210G>C c.3268G>C (p.Ala1090Pro) c.3265G>C (p.Ala1089Pro) c.2212G>C (p.Ala738Pro) c.3058G>C (p.Ala1020Pro) c.2578G>C (p.Ala860Pro) | |
| 12 | g.47977641C>T | CA384540575 | COL2A1 | c.2917G>A (p.Ala973Thr) c.3124G>A (p.Ala1042Thr) n.2210G>A c.3268G>A (p.Ala1090Thr) c.3265G>A (p.Ala1089Thr) c.2212G>A (p.Ala738Thr) c.3058G>A (p.Ala1020Thr) c.2578G>A (p.Ala860Thr) | |
| 12 | g.47977642A= | CA2034476518 | COL2A1 | c.2916T= (p.Gly972=) c.3123T= (p.Gly1041=) n.2209T= c.3267T= (p.Gly1089=) c.3264T= (p.Gly1088=) c.2211T= (p.Gly737=) c.3057T= (p.Gly1019=) c.2577T= (p.Gly859=) | |
| 12 | g.47977642A>C | CA479454357 | COL2A1 | c.2916T>G (p.Gly972=) c.3123T>G (p.Gly1041=) n.2209T>G c.3267T>G (p.Gly1089=) c.3264T>G (p.Gly1088=) c.2211T>G (p.Gly737=) c.3057T>G (p.Gly1019=) c.2577T>G (p.Gly859=) | ClinVar dbSNP |
| 12 | g.47977642A>G | CA479454358 | COL2A1 | c.2916T>C (p.Gly972=) c.3123T>C (p.Gly1041=) n.2209T>C c.3267T>C (p.Gly1089=) c.3264T>C (p.Gly1088=) c.2211T>C (p.Gly737=) c.3057T>C (p.Gly1019=) c.2577T>C (p.Gly859=) | |
| 12 | g.47977642A>T | CA6534875 | COL2A1 | c.2916T>A (p.Gly972=) c.3123T>A (p.Gly1041=) n.2209T>A c.3267T>A (p.Gly1089=) c.3264T>A (p.Gly1088=) c.2211T>A (p.Gly737=) c.3057T>A (p.Gly1019=) c.2577T>A (p.Gly859=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977643C>A | CA384540578 | COL2A1 | c.2915G>T (p.Gly972Val) c.3122G>T (p.Gly1041Val) n.2208G>T c.3266G>T (p.Gly1089Val) c.3263G>T (p.Gly1088Val) c.2210G>T (p.Gly737Val) c.3056G>T (p.Gly1019Val) c.2576G>T (p.Gly859Val) | |
| 12 | g.47977643C>G | CA384540577 | COL2A1 | c.2915G>C (p.Gly972Ala) c.3122G>C (p.Gly1041Ala) n.2208G>C c.3266G>C (p.Gly1089Ala) c.3263G>C (p.Gly1088Ala) c.2210G>C (p.Gly737Ala) c.3056G>C (p.Gly1019Ala) c.2576G>C (p.Gly859Ala) | |
| 12 | g.47977643C>T | CA384540576 | COL2A1 | c.2915G>A (p.Gly972Asp) c.3122G>A (p.Gly1041Asp) n.2208G>A c.3266G>A (p.Gly1089Asp) c.3263G>A (p.Gly1088Asp) c.2210G>A (p.Gly737Asp) c.3056G>A (p.Gly1019Asp) c.2576G>A (p.Gly859Asp) | |
| 12 | g.47977644del | CA2573148624 | COL2A1 | c.2915del (p.Gly972ValfsTer?) c.3122del (p.Gly1041ValfsTer?) n.2208del c.3266del (p.Gly1089ValfsTer?) c.3263del (p.Gly1088ValfsTer?) c.2210del (p.Gly737ValfsTer?) c.3056del (p.Gly1019ValfsTer?) c.2576del (p.Gly859ValfsTer?) | ClinVar dbSNP |
| 12 | g.47977644C>A | CA384540579 | COL2A1 | c.2914G>T (p.Gly972Cys) c.3121G>T (p.Gly1041Cys) n.2207G>T c.3265G>T (p.Gly1089Cys) c.3262G>T (p.Gly1088Cys) c.2209G>T (p.Gly737Cys) c.3055G>T (p.Gly1019Cys) c.2575G>T (p.Gly859Cys) | |
| 12 | g.47977644C>G | CA384540580 | COL2A1 | c.2914G>C (p.Gly972Arg) c.3121G>C (p.Gly1041Arg) n.2207G>C c.3265G>C (p.Gly1089Arg) c.3262G>C (p.Gly1088Arg) c.2209G>C (p.Gly737Arg) c.3055G>C (p.Gly1019Arg) c.2575G>C (p.Gly859Arg) | |
| 12 | g.47977644C>T | CA384540581 | COL2A1 | c.2914G>A (p.Gly972Ser) c.3121G>A (p.Gly1041Ser) n.2207G>A c.3265G>A (p.Gly1089Ser) c.3262G>A (p.Gly1088Ser) c.2209G>A (p.Gly737Ser) c.3055G>A (p.Gly1019Ser) c.2575G>A (p.Gly859Ser) | ClinVar dbSNP |
| 12 | g.47977645G>A | CA236521255 | COL2A1 | c.2913C>T (p.Pro971=) c.3120C>T (p.Pro1040=) n.2206C>T c.3264C>T (p.Pro1088=) c.3261C>T (p.Pro1087=) c.2208C>T (p.Pro736=) c.3054C>T (p.Pro1018=) c.2574C>T (p.Pro858=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977645G>C | CA479454368 | COL2A1 | c.2913C>G (p.Pro971=) c.3120C>G (p.Pro1040=) n.2206C>G c.3264C>G (p.Pro1088=) c.3261C>G (p.Pro1087=) c.2208C>G (p.Pro736=) c.3054C>G (p.Pro1018=) c.2574C>G (p.Pro858=) | |
| 12 | g.47977645G= | CA2034476519 | COL2A1 | c.2913C= (p.Pro971=) c.3120C= (p.Pro1040=) n.2206C= c.3264C= (p.Pro1088=) c.3261C= (p.Pro1087=) c.2208C= (p.Pro736=) c.3054C= (p.Pro1018=) c.2574C= (p.Pro858=) | |
| 12 | g.47977645G>T | CA479454371 | COL2A1 | c.2913C>A (p.Pro971=) c.3120C>A (p.Pro1040=) n.2206C>A c.3264C>A (p.Pro1088=) c.3261C>A (p.Pro1087=) c.2208C>A (p.Pro736=) c.3054C>A (p.Pro1018=) c.2574C>A (p.Pro858=) | |
| 12 | g.47977646G>A | CA236521259 | COL2A1 | c.2912C>T (p.Pro971Leu) c.3119C>T (p.Pro1040Leu) n.2205C>T c.3263C>T (p.Pro1088Leu) c.3260C>T (p.Pro1087Leu) c.2207C>T (p.Pro736Leu) c.3053C>T (p.Pro1018Leu) c.2573C>T (p.Pro858Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47977646G>C | CA384540582 | COL2A1 | c.2912C>G (p.Pro971Arg) c.3119C>G (p.Pro1040Arg) n.2205C>G c.3263C>G (p.Pro1088Arg) c.3260C>G (p.Pro1087Arg) c.2207C>G (p.Pro736Arg) c.3053C>G (p.Pro1018Arg) c.2573C>G (p.Pro858Arg) | |
| 12 | g.47977646G= | CA2034476520 | COL2A1 | c.2912C= (p.Pro971=) c.3119C= (p.Pro1040=) n.2205C= c.3263C= (p.Pro1088=) c.3260C= (p.Pro1087=) c.2207C= (p.Pro736=) c.3053C= (p.Pro1018=) c.2573C= (p.Pro858=) | |
| 12 | g.47977646G>T | CA384540583 | COL2A1 | c.2912C>A (p.Pro971His) c.3119C>A (p.Pro1040His) n.2205C>A c.3263C>A (p.Pro1088His) c.3260C>A (p.Pro1087His) c.2207C>A (p.Pro736His) c.3053C>A (p.Pro1018His) c.2573C>A (p.Pro858His) | |
| 12 | g.47977647G>A | CA6534876 | COL2A1 | c.2911C>T (p.Pro971Ser) c.3118C>T (p.Pro1040Ser) n.2204C>T c.3262C>T (p.Pro1088Ser) c.3259C>T (p.Pro1087Ser) c.2206C>T (p.Pro736Ser) c.3052C>T (p.Pro1018Ser) c.2572C>T (p.Pro858Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977647G>C | CA384540584 | COL2A1 | c.2911C>G (p.Pro971Ala) c.3118C>G (p.Pro1040Ala) n.2204C>G c.3262C>G (p.Pro1088Ala) c.3259C>G (p.Pro1087Ala) c.2206C>G (p.Pro736Ala) c.3052C>G (p.Pro1018Ala) c.2572C>G (p.Pro858Ala) | |
| 12 | g.47977647G= | CA2034476521 | COL2A1 | c.2911C= (p.Pro971=) c.3118C= (p.Pro1040=) n.2204C= c.3262C= (p.Pro1088=) c.3259C= (p.Pro1087=) c.2206C= (p.Pro736=) c.3052C= (p.Pro1018=) c.2572C= (p.Pro858=) | |
| 12 | g.47977647G>T | CA384540585 | COL2A1 | c.2911C>A (p.Pro971Thr) c.3118C>A (p.Pro1040Thr) n.2204C>A c.3262C>A (p.Pro1088Thr) c.3259C>A (p.Pro1087Thr) c.2206C>A (p.Pro736Thr) c.3052C>A (p.Pro1018Thr) c.2572C>A (p.Pro858Thr) | |
| 12 | g.47977648G>A | CA479454381 | COL2A1 | c.2910C>T (p.Ser970=) c.3117C>T (p.Ser1039=) n.2203C>T c.3261C>T (p.Ser1087=) c.3258C>T (p.Ser1086=) c.2205C>T (p.Ser735=) c.3051C>T (p.Ser1017=) c.2571C>T (p.Ser857=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47977648G>C | CA384540586 | COL2A1 | c.2910C>G (p.Ser970Arg) c.3117C>G (p.Ser1039Arg) n.2203C>G c.3261C>G (p.Ser1087Arg) c.3258C>G (p.Ser1086Arg) c.2205C>G (p.Ser735Arg) c.3051C>G (p.Ser1017Arg) c.2571C>G (p.Ser857Arg) | |
| 12 | g.47977648G= | CA2034476522 | COL2A1 | c.2910C= (p.Ser970=) c.3117C= (p.Ser1039=) n.2203C= c.3261C= (p.Ser1087=) c.3258C= (p.Ser1086=) c.2205C= (p.Ser735=) c.3051C= (p.Ser1017=) c.2571C= (p.Ser857=) | |
| 12 | g.47977648G>T | CA384540587 | COL2A1 | c.2910C>A (p.Ser970Arg) c.3117C>A (p.Ser1039Arg) n.2203C>A c.3261C>A (p.Ser1087Arg) c.3258C>A (p.Ser1086Arg) c.2205C>A (p.Ser735Arg) c.3051C>A (p.Ser1017Arg) c.2571C>A (p.Ser857Arg) | ClinVar dbSNP |
| 12 | g.47977649C>A | CA384540588 | COL2A1 | c.2909G>T (p.Ser970Ile) c.3116G>T (p.Ser1039Ile) n.2202G>T c.3260G>T (p.Ser1087Ile) c.3257G>T (p.Ser1086Ile) c.2204G>T (p.Ser735Ile) c.3050G>T (p.Ser1017Ile) c.2570G>T (p.Ser857Ile) | |
| 12 | g.47977649C= | CA2034476523 | COL2A1 | c.2909G= (p.Ser970=) c.3116G= (p.Ser1039=) n.2202G= c.3260G= (p.Ser1087=) c.3257G= (p.Ser1086=) c.2204G= (p.Ser735=) c.3050G= (p.Ser1017=) c.2570G= (p.Ser857=) | |
| 12 | g.47977649C>G | CA384540589 | COL2A1 | c.2909G>C (p.Ser970Thr) c.3116G>C (p.Ser1039Thr) n.2202G>C c.3260G>C (p.Ser1087Thr) c.3257G>C (p.Ser1086Thr) c.2204G>C (p.Ser735Thr) c.3050G>C (p.Ser1017Thr) c.2570G>C (p.Ser857Thr) | |
| 12 | g.47977649C>T | CA236521269 | COL2A1 | c.2909G>A (p.Ser970Asn) c.3116G>A (p.Ser1039Asn) n.2202G>A c.3260G>A (p.Ser1087Asn) c.3257G>A (p.Ser1086Asn) c.2204G>A (p.Ser735Asn) c.3050G>A (p.Ser1017Asn) c.2570G>A (p.Ser857Asn) | dbSNP |
| 12 | g.47977650T>A | CA384540590 | COL2A1 | c.2908A>T (p.Ser970Cys) c.3115A>T (p.Ser1039Cys) n.2201A>T c.3259A>T (p.Ser1087Cys) c.3256A>T (p.Ser1086Cys) c.2203A>T (p.Ser735Cys) c.3049A>T (p.Ser1017Cys) c.2569A>T (p.Ser857Cys) | |
| 12 | g.47977650T>C | CA384540591 | COL2A1 | c.2908A>G (p.Ser970Gly) c.3115A>G (p.Ser1039Gly) n.2201A>G c.3259A>G (p.Ser1087Gly) c.3256A>G (p.Ser1086Gly) c.2203A>G (p.Ser735Gly) c.3049A>G (p.Ser1017Gly) c.2569A>G (p.Ser857Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977650T>G | CA6534877 | COL2A1 | c.2908A>C (p.Ser970Arg) c.3115A>C (p.Ser1039Arg) n.2201A>C c.3259A>C (p.Ser1087Arg) c.3256A>C (p.Ser1086Arg) c.2203A>C (p.Ser735Arg) c.3049A>C (p.Ser1017Arg) c.2569A>C (p.Ser857Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977650T= | CA2034476524 | COL2A1 | c.2908A= (p.Ser970=) c.3115A= (p.Ser1039=) n.2201A= c.3259A= (p.Ser1087=) c.3256A= (p.Ser1086=) c.2203A= (p.Ser735=) c.3049A= (p.Ser1017=) c.2569A= (p.Ser857=) | |
| 12 | g.47977651T>A | CA479454389 | COL2A1 | c.2907A>T (p.Gly969=) c.3114A>T (p.Gly1038=) n.2200A>T c.3258A>T (p.Gly1086=) c.3255A>T (p.Gly1085=) c.2202A>T (p.Gly734=) c.3048A>T (p.Gly1016=) c.2568A>T (p.Gly856=) | |
| 12 | g.47977651T>C | CA479454391 | COL2A1 | c.2907A>G (p.Gly969=) c.3114A>G (p.Gly1038=) n.2200A>G c.3258A>G (p.Gly1086=) c.3255A>G (p.Gly1085=) c.2202A>G (p.Gly734=) c.3048A>G (p.Gly1016=) c.2568A>G (p.Gly856=) | |
| 12 | g.47977651T>G | CA479454393 | COL2A1 | c.2907A>C (p.Gly969=) c.3114A>C (p.Gly1038=) n.2200A>C c.3258A>C (p.Gly1086=) c.3255A>C (p.Gly1085=) c.2202A>C (p.Gly734=) c.3048A>C (p.Gly1016=) c.2568A>C (p.Gly856=) | |
| 12 | g.47977652C>A | CA384540592 | COL2A1 | c.2906G>T (p.Gly969Val) c.3113G>T (p.Gly1038Val) n.2199G>T c.3257G>T (p.Gly1086Val) c.3254G>T (p.Gly1085Val) c.2201G>T (p.Gly734Val) c.3047G>T (p.Gly1016Val) c.2567G>T (p.Gly856Val) | |
| 12 | g.47977652C>G | CA384540593 | COL2A1 | c.2906G>C (p.Gly969Ala) c.3113G>C (p.Gly1038Ala) n.2199G>C c.3257G>C (p.Gly1086Ala) c.3254G>C (p.Gly1085Ala) c.2201G>C (p.Gly734Ala) c.3047G>C (p.Gly1016Ala) c.2567G>C (p.Gly856Ala) | |
| 12 | g.47977652C>T | CA384540594 | COL2A1 | c.2906G>A (p.Gly969Glu) c.3113G>A (p.Gly1038Glu) n.2199G>A c.3257G>A (p.Gly1086Glu) c.3254G>A (p.Gly1085Glu) c.2201G>A (p.Gly734Glu) c.3047G>A (p.Gly1016Glu) c.2567G>A (p.Gly856Glu) | ClinVar dbSNP |
| 12 | g.47977653C>A | CA384540595 | COL2A1 | c.2905G>T (p.Gly969Ter) c.3112G>T (p.Gly1038Ter) n.2198G>T c.3256G>T (p.Gly1086Ter) c.3253G>T (p.Gly1085Ter) c.2200G>T (p.Gly734Ter) c.3046G>T (p.Gly1016Ter) c.2566G>T (p.Gly856Ter) | |
| 12 | g.47977653C>G | CA384540596 | COL2A1 | c.2905G>C (p.Gly969Arg) c.3112G>C (p.Gly1038Arg) n.2198G>C c.3256G>C (p.Gly1086Arg) c.3253G>C (p.Gly1085Arg) c.2200G>C (p.Gly734Arg) c.3046G>C (p.Gly1016Arg) c.2566G>C (p.Gly856Arg) | |
| 12 | g.47977653C>T | CA384540597 | COL2A1 | c.2905G>A (p.Gly969Arg) c.3112G>A (p.Gly1038Arg) n.2198G>A c.3256G>A (p.Gly1086Arg) c.3253G>A (p.Gly1085Arg) c.2200G>A (p.Gly734Arg) c.3046G>A (p.Gly1016Arg) c.2566G>A (p.Gly856Arg) | |
| 12 | g.47977654C>A | CA384540598 | COL2A1 | c.2905-1G>T (n.2905-1G>T) c.3112-1G>T (n.3112-1G>T) n.2198-1G>T c.3256-1G>T (n.3256-1G>T) c.3253-1G>T (n.3253-1G>T) c.2200-1G>T (n.2200-1G>T) c.3046-1G>T (n.3046-1G>T) c.2566-1G>T (n.2566-1G>T) | |
| 12 | g.47977654C>G | CA384540599 | COL2A1 | c.2905-1G>C (n.2905-1G>C) c.3112-1G>C (n.3112-1G>C) n.2198-1G>C c.3256-1G>C (n.3256-1G>C) c.3253-1G>C (n.3253-1G>C) c.2200-1G>C (n.2200-1G>C) c.3046-1G>C (n.3046-1G>C) c.2566-1G>C (n.2566-1G>C) | |
| 12 | g.47977654C>T | CA384540600 | COL2A1 | c.2905-1G>A (n.2905-1G>A) c.3112-1G>A (n.3112-1G>A) n.2198-1G>A c.3256-1G>A (n.3256-1G>A) c.3253-1G>A (n.3253-1G>A) c.2200-1G>A (n.2200-1G>A) c.3046-1G>A (n.3046-1G>A) c.2566-1G>A (n.2566-1G>A) | |
| 12 | g.47977655T>A | CA384540602 | COL2A1 | c.2905-2A>T (n.2905-2A>T) c.3112-2A>T (n.3112-2A>T) n.2198-2A>T c.3256-2A>T (n.3256-2A>T) c.3253-2A>T (n.3253-2A>T) c.2200-2A>T (n.2200-2A>T) c.3046-2A>T (n.3046-2A>T) c.2566-2A>T (n.2566-2A>T) | |
| 12 | g.47977655T>C | CA384540603 | COL2A1 | c.2905-2A>G (n.2905-2A>G) c.3112-2A>G (n.3112-2A>G) n.2198-2A>G c.3256-2A>G (n.3256-2A>G) c.3253-2A>G (n.3253-2A>G) c.2200-2A>G (n.2200-2A>G) c.3046-2A>G (n.3046-2A>G) c.2566-2A>G (n.2566-2A>G) | ClinVar |
| 12 | g.47977655T>G | CA384540601 | COL2A1 | c.2905-2A>C (n.2905-2A>C) c.3112-2A>C (n.3112-2A>C) n.2198-2A>C c.3256-2A>C (n.3256-2A>C) c.3253-2A>C (n.3253-2A>C) c.2200-2A>C (n.2200-2A>C) c.3046-2A>C (n.3046-2A>C) c.2566-2A>C (n.2566-2A>C) | |
| 12 | g.47977656G>A | CA605231669 | COL2A1 | c.2905-3C>T (n.2905-3C>T) c.3112-3C>T (n.3112-3C>T) n.2198-3C>T c.3256-3C>T (n.3256-3C>T) c.3253-3C>T (n.3253-3C>T) c.2200-3C>T (n.2200-3C>T) c.3046-3C>T (n.3046-3C>T) c.2566-3C>T (n.2566-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977656G= | CA2034476525 | COL2A1 | c.2905-3C= (n.2905-3C=) c.3112-3C= (n.3112-3C=) n.2198-3C= c.3256-3C= (n.3256-3C=) c.3253-3C= (n.3253-3C=) c.2200-3C= (n.2200-3C=) c.3046-3C= (n.3046-3C=) c.2566-3C= (n.2566-3C=) | |
| 12 | g.47977657G>T | CA479454420 | COL2A1 | c.2905-4C>A (n.2905-4C>A) c.3112-4C>A (n.3112-4C>A) n.2198-4C>A c.3256-4C>A (n.3256-4C>A) c.3253-4C>A (n.3253-4C>A) c.2200-4C>A (n.2200-4C>A) c.3046-4C>A (n.3046-4C>A) c.2566-4C>A (n.2566-4C>A) | |
| 12 | g.47977657_47977667delinsGACAAAGTGAA | CA2034476526 | COL2A1 | c.2905-14_2905-4delinsTTCACTTTGTC (n.2905-14_2905-4delinsTTCACTTTGTC) c.3112-14_3112-4delinsTTCACTTTGTC (n.3112-14_3112-4delinsTTCACTTTGTC) n.2198-14_2198-4delinsTTCACTTTGTC c.3256-14_3256-4delinsTTCACTTTGTC (n.3256-14_3256-4delinsTTCACTTTGTC) c.3253-14_3253-4delinsTTCACTTTGTC (n.3253-14_3253-4delinsTTCACTTTGTC) c.2200-14_2200-4delinsTTCACTTTGTC (n.2200-14_2200-4delinsTTCACTTTGTC) c.3046-14_3046-4delinsTTCACTTTGTC (n.3046-14_3046-4delinsTTCACTTTGTC) c.2566-14_2566-4delinsTTCACTTTGTC (n.2566-14_2566-4delinsTTCACTTTGTC) | |
| 12 | g.47977658del | CA2618498103 | COL2A1 | c.2905-5del (n.2905-5del) c.3112-5del (n.3112-5del) n.2198-5del c.3256-5del (n.3256-5del) c.3253-5del (n.3253-5del) c.2200-5del (n.2200-5del) c.3046-5del (n.3046-5del) c.2566-5del (n.2566-5del) | gnomAD v4 |
| 12 | g.47977662_47977671del | CA919081187 | COL2A1 | c.2905-14_2905-5del (n.2905-14_2905-5del) c.3112-14_3112-5del (n.3112-14_3112-5del) n.2198-14_2198-5del c.3256-14_3256-5del (n.3256-14_3256-5del) c.3253-14_3253-5del (n.3253-14_3253-5del) c.2200-14_2200-5del (n.2200-14_2200-5del) c.3046-14_3046-5del (n.3046-14_3046-5del) c.2566-14_2566-5del (n.2566-14_2566-5del) | dbSNP |
| 12 | g.47977659C= | CA2034476527 | COL2A1 | c.2905-6G= (n.2905-6G=) c.3112-6G= (n.3112-6G=) n.2198-6G= c.3256-6G= (n.3256-6G=) c.3253-6G= (n.3253-6G=) c.2200-6G= (n.2200-6G=) c.3046-6G= (n.3046-6G=) c.2566-6G= (n.2566-6G=) | |
| 12 | g.47977659C>T | CA605231670 | COL2A1 | c.2905-6G>A (n.2905-6G>A) c.3112-6G>A (n.3112-6G>A) n.2198-6G>A c.3256-6G>A (n.3256-6G>A) c.3253-6G>A (n.3253-6G>A) c.2200-6G>A (n.2200-6G>A) c.3046-6G>A (n.3046-6G>A) c.2566-6G>A (n.2566-6G>A) | dbSNP gnomAD v2 |
| 12 | g.47977663G>A | CA2034476529 | COL2A1 | c.2905-10C>T (n.2905-10C>T) c.3112-10C>T (n.3112-10C>T) n.2198-10C>T c.3256-10C>T (n.3256-10C>T) c.3253-10C>T (n.3253-10C>T) c.2200-10C>T (n.2200-10C>T) c.3046-10C>T (n.3046-10C>T) c.2566-10C>T (n.2566-10C>T) | dbSNP gnomAD v4 |
| 12 | g.47977663G>C | CA2575137297 | COL2A1 | c.2905-10C>G (n.2905-10C>G) c.3112-10C>G (n.3112-10C>G) n.2198-10C>G c.3256-10C>G (n.3256-10C>G) c.3253-10C>G (n.3253-10C>G) c.2200-10C>G (n.2200-10C>G) c.3046-10C>G (n.3046-10C>G) c.2566-10C>G (n.2566-10C>G) | |
| 12 | g.47977663G= | CA2034476528 | COL2A1 | c.2905-10C= (n.2905-10C=) c.3112-10C= (n.3112-10C=) n.2198-10C= c.3256-10C= (n.3256-10C=) c.3253-10C= (n.3253-10C=) c.2200-10C= (n.2200-10C=) c.3046-10C= (n.3046-10C=) c.2566-10C= (n.2566-10C=) | |
| 12 | g.47977664_47977667del | CA2795864211 | COL2A1 | c.2905-14_2905-11del (n.2905-14_2905-11del) c.3112-14_3112-11del (n.3112-14_3112-11del) n.2198-14_2198-11del c.3256-14_3256-11del (n.3256-14_3256-11del) c.3253-14_3253-11del (n.3253-14_3253-11del) c.2200-14_2200-11del (n.2200-14_2200-11del) c.3046-14_3046-11del (n.3046-14_3046-11del) c.2566-14_2566-11del (n.2566-14_2566-11del) | |
| 12 | g.47977665G>A | CA2575137317 | COL2A1 | c.2905-12C>T (n.2905-12C>T) c.3112-12C>T (n.3112-12C>T) n.2198-12C>T c.3256-12C>T (n.3256-12C>T) c.3253-12C>T (n.3253-12C>T) c.2200-12C>T (n.2200-12C>T) c.3046-12C>T (n.3046-12C>T) c.2566-12C>T (n.2566-12C>T) | |
| 12 | g.47977667A>G | CA2575137318 | COL2A1 | c.2905-14T>C (n.2905-14T>C) c.3112-14T>C (n.3112-14T>C) n.2198-14T>C c.3256-14T>C (n.3256-14T>C) c.3253-14T>C (n.3253-14T>C) c.2200-14T>C (n.2200-14T>C) c.3046-14T>C (n.3046-14T>C) c.2566-14T>C (n.2566-14T>C) | gnomAD v4 |
| 12 | g.47977669C>A | CA605231671 | COL2A1 | c.2905-16G>T (n.2905-16G>T) c.3112-16G>T (n.3112-16G>T) n.2198-16G>T c.3256-16G>T (n.3256-16G>T) c.3253-16G>T (n.3253-16G>T) c.2200-16G>T (n.2200-16G>T) c.3046-16G>T (n.3046-16G>T) c.2566-16G>T (n.2566-16G>T) | dbSNP gnomAD v2 |
| 12 | g.47977669C= | CA2034476530 | COL2A1 | c.2905-16G= (n.2905-16G=) c.3112-16G= (n.3112-16G=) n.2198-16G= c.3256-16G= (n.3256-16G=) c.3253-16G= (n.3253-16G=) c.2200-16G= (n.2200-16G=) c.3046-16G= (n.3046-16G=) c.2566-16G= (n.2566-16G=) | |
| 12 | g.47977669C>G | CA2618498115 | COL2A1 | c.2905-16G>C (n.2905-16G>C) c.3112-16G>C (n.3112-16G>C) n.2198-16G>C c.3256-16G>C (n.3256-16G>C) c.3253-16G>C (n.3253-16G>C) c.2200-16G>C (n.2200-16G>C) c.3046-16G>C (n.3046-16G>C) c.2566-16G>C (n.2566-16G>C) | gnomAD v4 |
| 12 | g.47977675T>C | CA2575137319 | COL2A1 | c.2905-22A>G (n.2905-22A>G) c.3112-22A>G (n.3112-22A>G) n.2198-22A>G c.3256-22A>G (n.3256-22A>G) c.3253-22A>G (n.3253-22A>G) c.2200-22A>G (n.2200-22A>G) c.3046-22A>G (n.3046-22A>G) c.2566-22A>G (n.2566-22A>G) | |
| 12 | g.47977677C= | CA2034476531 | COL2A1 | c.2905-24G= (n.2905-24G=) c.3112-24G= (n.3112-24G=) n.2198-24G= c.3256-24G= (n.3256-24G=) c.3253-24G= (n.3253-24G=) c.2200-24G= (n.2200-24G=) c.3046-24G= (n.3046-24G=) c.2566-24G= (n.2566-24G=) | |
| 12 | g.47977677C>G | CA6534879 | COL2A1 | c.2905-24G>C (n.2905-24G>C) c.3112-24G>C (n.3112-24G>C) n.2198-24G>C c.3256-24G>C (n.3256-24G>C) c.3253-24G>C (n.3253-24G>C) c.2200-24G>C (n.2200-24G>C) c.3046-24G>C (n.3046-24G>C) c.2566-24G>C (n.2566-24G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977677C>T | CA6534878 | COL2A1 | c.2905-24G>A (n.2905-24G>A) c.3112-24G>A (n.3112-24G>A) n.2198-24G>A c.3256-24G>A (n.3256-24G>A) c.3253-24G>A (n.3253-24G>A) c.2200-24G>A (n.2200-24G>A) c.3046-24G>A (n.3046-24G>A) c.2566-24G>A (n.2566-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977678A= | CA2034476532 | COL2A1 | c.2905-25T= (n.2905-25T=) c.3112-25T= (n.3112-25T=) n.2198-25T= c.3256-25T= (n.3256-25T=) c.3253-25T= (n.3253-25T=) c.2200-25T= (n.2200-25T=) c.3046-25T= (n.3046-25T=) c.2566-25T= (n.2566-25T=) | |
| 12 | g.47977678A>C | CA2618498123 | COL2A1 | c.2905-25T>G (n.2905-25T>G) c.3112-25T>G (n.3112-25T>G) n.2198-25T>G c.3256-25T>G (n.3256-25T>G) c.3253-25T>G (n.3253-25T>G) c.2200-25T>G (n.2200-25T>G) c.3046-25T>G (n.3046-25T>G) c.2566-25T>G (n.2566-25T>G) | gnomAD v4 |
| 12 | g.47977678A>T | CA6534880 | COL2A1 | c.2905-25T>A (n.2905-25T>A) c.3112-25T>A (n.3112-25T>A) n.2198-25T>A c.3256-25T>A (n.3256-25T>A) c.3253-25T>A (n.3253-25T>A) c.2200-25T>A (n.2200-25T>A) c.3046-25T>A (n.3046-25T>A) c.2566-25T>A (n.2566-25T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977679C>T | CA2575137320 | COL2A1 | c.2905-26G>A (n.2905-26G>A) c.3112-26G>A (n.3112-26G>A) n.2198-26G>A c.3256-26G>A (n.3256-26G>A) c.3253-26G>A (n.3253-26G>A) c.2200-26G>A (n.2200-26G>A) c.3046-26G>A (n.3046-26G>A) c.2566-26G>A (n.2566-26G>A) | dbSNP gnomAD v4 |
| 12 | g.47977681T>A | CA2795864212 | COL2A1 | c.2905-28A>T (n.2905-28A>T) c.3112-28A>T (n.3112-28A>T) n.2198-28A>T c.3256-28A>T (n.3256-28A>T) c.3253-28A>T (n.3253-28A>T) c.2200-28A>T (n.2200-28A>T) c.3046-28A>T (n.3046-28A>T) c.2566-28A>T (n.2566-28A>T) | |
| 12 | g.47977682A>C | CA2795864213 | COL2A1 | c.2905-29T>G (n.2905-29T>G) c.3112-29T>G (n.3112-29T>G) n.2198-29T>G c.3256-29T>G (n.3256-29T>G) c.3253-29T>G (n.3253-29T>G) c.2200-29T>G (n.2200-29T>G) c.3046-29T>G (n.3046-29T>G) c.2566-29T>G (n.2566-29T>G) | |
| 12 | g.47977683G>A | CA236521273 | COL2A1 | c.2905-30C>T (n.2905-30C>T) c.3112-30C>T (n.3112-30C>T) n.2198-30C>T c.3256-30C>T (n.3256-30C>T) c.3253-30C>T (n.3253-30C>T) c.2200-30C>T (n.2200-30C>T) c.3046-30C>T (n.3046-30C>T) c.2566-30C>T (n.2566-30C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977683G>C | CA2618498131 | COL2A1 | c.2905-30C>G (n.2905-30C>G) c.3112-30C>G (n.3112-30C>G) n.2198-30C>G c.3256-30C>G (n.3256-30C>G) c.3253-30C>G (n.3253-30C>G) c.2200-30C>G (n.2200-30C>G) c.3046-30C>G (n.3046-30C>G) c.2566-30C>G (n.2566-30C>G) | gnomAD v4 |
| 12 | g.47977683G= | CA2034476533 | COL2A1 | c.2905-30C= (n.2905-30C=) c.3112-30C= (n.3112-30C=) n.2198-30C= c.3256-30C= (n.3256-30C=) c.3253-30C= (n.3253-30C=) c.2200-30C= (n.2200-30C=) c.3046-30C= (n.3046-30C=) c.2566-30C= (n.2566-30C=) | |
| 12 | g.47977683_47977685del | CA2795864214 | COL2A1 | c.2905-32_2905-30del (n.2905-32_2905-30del) c.3112-32_3112-30del (n.3112-32_3112-30del) n.2198-32_2198-30del c.3256-32_3256-30del (n.3256-32_3256-30del) c.3253-32_3253-30del (n.3253-32_3253-30del) c.2200-32_2200-30del (n.2200-32_2200-30del) c.3046-32_3046-30del (n.3046-32_3046-30del) c.2566-32_2566-30del (n.2566-32_2566-30del) | |
| 12 | g.47977684A= | CA2034476534 | COL2A1 | c.2905-31T= (n.2905-31T=) c.3112-31T= (n.3112-31T=) n.2198-31T= c.3256-31T= (n.3256-31T=) c.3253-31T= (n.3253-31T=) c.2200-31T= (n.2200-31T=) c.3046-31T= (n.3046-31T=) c.2566-31T= (n.2566-31T=) | |
| 12 | g.47977684A>G | CA2034476535 | COL2A1 | c.2905-31T>C (n.2905-31T>C) c.3112-31T>C (n.3112-31T>C) n.2198-31T>C c.3256-31T>C (n.3256-31T>C) c.3253-31T>C (n.3253-31T>C) c.2200-31T>C (n.2200-31T>C) c.3046-31T>C (n.3046-31T>C) c.2566-31T>C (n.2566-31T>C) | dbSNP gnomAD v4 |
| 12 | g.47977685G>T | CA2575137321 | COL2A1 | c.2905-32C>A (n.2905-32C>A) c.3112-32C>A (n.3112-32C>A) n.2198-32C>A c.3256-32C>A (n.3256-32C>A) c.3253-32C>A (n.3253-32C>A) c.2200-32C>A (n.2200-32C>A) c.3046-32C>A (n.3046-32C>A) c.2566-32C>A (n.2566-32C>A) | |
| 12 | g.47977686C>T | CA2618498134 | COL2A1 | c.2905-33G>A (n.2905-33G>A) c.3112-33G>A (n.3112-33G>A) n.2198-33G>A c.3256-33G>A (n.3256-33G>A) c.3253-33G>A (n.3253-33G>A) c.2200-33G>A (n.2200-33G>A) c.3046-33G>A (n.3046-33G>A) c.2566-33G>A (n.2566-33G>A) | gnomAD v4 |
| 12 | g.47977687T>A | CA2795864215 | COL2A1 | c.2905-34A>T (n.2905-34A>T) c.3112-34A>T (n.3112-34A>T) n.2198-34A>T c.3256-34A>T (n.3256-34A>T) c.3253-34A>T (n.3253-34A>T) c.2200-34A>T (n.2200-34A>T) c.3046-34A>T (n.3046-34A>T) c.2566-34A>T (n.2566-34A>T) | |
| 12 | g.47977687_47977688insA | CA2795864216 | COL2A1 | c.2905-35_2905-34insT (n.2905-35_2905-34insT) c.3112-35_3112-34insT (n.3112-35_3112-34insT) n.2198-35_2198-34insT c.3256-35_3256-34insT (n.3256-35_3256-34insT) c.3253-35_3253-34insT (n.3253-35_3253-34insT) c.2200-35_2200-34insT (n.2200-35_2200-34insT) c.3046-35_3046-34insT (n.3046-35_3046-34insT) c.2566-35_2566-34insT (n.2566-35_2566-34insT) | |
| 12 | g.47977687_47977688insACA | CA2795864217 | COL2A1 | c.2905-35_2905-34insTGT (n.2905-35_2905-34insTGT) c.3112-35_3112-34insTGT (n.3112-35_3112-34insTGT) n.2198-35_2198-34insTGT c.3256-35_3256-34insTGT (n.3256-35_3256-34insTGT) c.3253-35_3253-34insTGT (n.3253-35_3253-34insTGT) c.2200-35_2200-34insTGT (n.2200-35_2200-34insTGT) c.3046-35_3046-34insTGT (n.3046-35_3046-34insTGT) c.2566-35_2566-34insTGT (n.2566-35_2566-34insTGT) | |
| 12 | g.47977688G>C | CA2795864218 | COL2A1 | c.2905-35C>G (n.2905-35C>G) c.3112-35C>G (n.3112-35C>G) n.2198-35C>G c.3256-35C>G (n.3256-35C>G) c.3253-35C>G (n.3253-35C>G) c.2200-35C>G (n.2200-35C>G) c.3046-35C>G (n.3046-35C>G) c.2566-35C>G (n.2566-35C>G) | |
| 12 | g.47977688G>T | CA2618498136 | COL2A1 | c.2905-35C>A (n.2905-35C>A) c.3112-35C>A (n.3112-35C>A) n.2198-35C>A c.3256-35C>A (n.3256-35C>A) c.3253-35C>A (n.3253-35C>A) c.2200-35C>A (n.2200-35C>A) c.3046-35C>A (n.3046-35C>A) c.2566-35C>A (n.2566-35C>A) | gnomAD v4 |
| 12 | g.47977688_47977689insA | CA2795864220 | COL2A1 | c.2905-36_2905-35insT (n.2905-36_2905-35insT) c.3112-36_3112-35insT (n.3112-36_3112-35insT) n.2198-36_2198-35insT c.3256-36_3256-35insT (n.3256-36_3256-35insT) c.3253-36_3253-35insT (n.3253-36_3253-35insT) c.2200-36_2200-35insT (n.2200-36_2200-35insT) c.3046-36_3046-35insT (n.3046-36_3046-35insT) c.2566-36_2566-35insT (n.2566-36_2566-35insT) | |
| 12 | g.47977689C>A | CA2795864219 | COL2A1 | c.2905-36G>T (n.2905-36G>T) c.3112-36G>T (n.3112-36G>T) n.2198-36G>T c.3256-36G>T (n.3256-36G>T) c.3253-36G>T (n.3253-36G>T) c.2200-36G>T (n.2200-36G>T) c.3046-36G>T (n.3046-36G>T) c.2566-36G>T (n.2566-36G>T) | |
| 12 | g.47977690T>A | CA2795864221 | COL2A1 | c.2905-37A>T (n.2905-37A>T) c.3112-37A>T (n.3112-37A>T) n.2198-37A>T c.3256-37A>T (n.3256-37A>T) c.3253-37A>T (n.3253-37A>T) c.2200-37A>T (n.2200-37A>T) c.3046-37A>T (n.3046-37A>T) c.2566-37A>T (n.2566-37A>T) | |
| 12 | g.47977690T>C | CA605231672 | COL2A1 | c.2905-37A>G (n.2905-37A>G) c.3112-37A>G (n.3112-37A>G) n.2198-37A>G c.3256-37A>G (n.3256-37A>G) c.3253-37A>G (n.3253-37A>G) c.2200-37A>G (n.2200-37A>G) c.3046-37A>G (n.3046-37A>G) c.2566-37A>G (n.2566-37A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977690T= | CA2034476536 | COL2A1 | c.2905-37A= (n.2905-37A=) c.3112-37A= (n.3112-37A=) n.2198-37A= c.3256-37A= (n.3256-37A=) c.3253-37A= (n.3253-37A=) c.2200-37A= (n.2200-37A=) c.3046-37A= (n.3046-37A=) c.2566-37A= (n.2566-37A=) | |
| 12 | g.47977692C>T | CA2618498145 | COL2A1 | c.2905-39G>A (n.2905-39G>A) c.3112-39G>A (n.3112-39G>A) n.2198-39G>A c.3256-39G>A (n.3256-39G>A) c.3253-39G>A (n.3253-39G>A) c.2200-39G>A (n.2200-39G>A) c.3046-39G>A (n.3046-39G>A) c.2566-39G>A (n.2566-39G>A) | gnomAD v4 |
| 12 | g.47977696_47977921del | CA2795864222 | COL2A1 | c.2904+93_2905-39del (n.2904+93_2905-39del) c.3111+93_3112-39del (n.3111+93_3112-39del) n.2197+93_2198-39del c.3255+93_3256-39del (n.3255+93_3256-39del) c.3252+93_3253-39del (n.3252+93_3253-39del) c.2199+93_2200-39del (n.2199+93_2200-39del) c.3045+93_3046-39del (n.3045+93_3046-39del) c.2565+93_2566-39del (n.2565+93_2566-39del) | |
| 12 | g.47977700_47977757del | CA2795864223 | COL2A1 | c.2905-97_2905-40del (n.2905-97_2905-40del) c.3112-97_3112-40del (n.3112-97_3112-40del) n.2198-97_2198-40del c.3256-97_3256-40del (n.3256-97_3256-40del) c.3253-97_3253-40del (n.3253-97_3253-40del) c.2200-97_2200-40del (n.2200-97_2200-40del) c.3046-97_3046-40del (n.3046-97_3046-40del) c.2566-97_2566-40del (n.2566-97_2566-40del) | |
| 12 | g.47977694T>A | CA2795864224 | COL2A1 | c.2905-41A>T (n.2905-41A>T) c.3112-41A>T (n.3112-41A>T) n.2198-41A>T c.3256-41A>T (n.3256-41A>T) c.3253-41A>T (n.3253-41A>T) c.2200-41A>T (n.2200-41A>T) c.3046-41A>T (n.3046-41A>T) c.2566-41A>T (n.2566-41A>T) | |
| 12 | g.47977694T>G | CA2034476538 | COL2A1 | c.2905-41A>C (n.2905-41A>C) c.3112-41A>C (n.3112-41A>C) n.2198-41A>C c.3256-41A>C (n.3256-41A>C) c.3253-41A>C (n.3253-41A>C) c.2200-41A>C (n.2200-41A>C) c.3046-41A>C (n.3046-41A>C) c.2566-41A>C (n.2566-41A>C) | dbSNP gnomAD v4 |
| 12 | g.47977694T= | CA2034476537 | COL2A1 | c.2905-41A= (n.2905-41A=) c.3112-41A= (n.3112-41A=) n.2198-41A= c.3256-41A= (n.3256-41A=) c.3253-41A= (n.3253-41A=) c.2200-41A= (n.2200-41A=) c.3046-41A= (n.3046-41A=) c.2566-41A= (n.2566-41A=) | |
| 12 | g.47977695G>A | CA2618498149 | COL2A1 | c.2905-42C>T (n.2905-42C>T) c.3112-42C>T (n.3112-42C>T) n.2198-42C>T c.3256-42C>T (n.3256-42C>T) c.3253-42C>T (n.3253-42C>T) c.2200-42C>T (n.2200-42C>T) c.3046-42C>T (n.3046-42C>T) c.2566-42C>T (n.2566-42C>T) | gnomAD v4 |
| 12 | g.47977695G>C | CA2618498155 | COL2A1 | c.2905-42C>G (n.2905-42C>G) c.3112-42C>G (n.3112-42C>G) n.2198-42C>G c.3256-42C>G (n.3256-42C>G) c.3253-42C>G (n.3253-42C>G) c.2200-42C>G (n.2200-42C>G) c.3046-42C>G (n.3046-42C>G) c.2566-42C>G (n.2566-42C>G) | gnomAD v4 |
| 12 | g.47977695G= | CA2034476539 | COL2A1 | c.2905-42C= (n.2905-42C=) c.3112-42C= (n.3112-42C=) n.2198-42C= c.3256-42C= (n.3256-42C=) c.3253-42C= (n.3253-42C=) c.2200-42C= (n.2200-42C=) c.3046-42C= (n.3046-42C=) c.2566-42C= (n.2566-42C=) | |
| 12 | g.47977695G>T | CA236521274 | COL2A1 | c.2905-42C>A (n.2905-42C>A) c.3112-42C>A (n.3112-42C>A) n.2198-42C>A c.3256-42C>A (n.3256-42C>A) c.3253-42C>A (n.3253-42C>A) c.2200-42C>A (n.2200-42C>A) c.3046-42C>A (n.3046-42C>A) c.2566-42C>A (n.2566-42C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977696C= | CA2034476540 | COL2A1 | c.2905-43G= (n.2905-43G=) c.3112-43G= (n.3112-43G=) n.2198-43G= c.3256-43G= (n.3256-43G=) c.3253-43G= (n.3253-43G=) c.2200-43G= (n.2200-43G=) c.3046-43G= (n.3046-43G=) c.2566-43G= (n.2566-43G=) | |
| 12 | g.47977696C>T | CA605231673 | COL2A1 | c.2905-43G>A (n.2905-43G>A) c.3112-43G>A (n.3112-43G>A) n.2198-43G>A c.3256-43G>A (n.3256-43G>A) c.3253-43G>A (n.3253-43G>A) c.2200-43G>A (n.2200-43G>A) c.3046-43G>A (n.3046-43G>A) c.2566-43G>A (n.2566-43G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977696_47977698del | CA2795864225 | COL2A1 | c.2905-45_2905-43del (n.2905-45_2905-43del) c.3112-45_3112-43del (n.3112-45_3112-43del) n.2198-45_2198-43del c.3256-45_3256-43del (n.3256-45_3256-43del) c.3253-45_3253-43del (n.3253-45_3253-43del) c.2200-45_2200-43del (n.2200-45_2200-43del) c.3046-45_3046-43del (n.3046-45_3046-43del) c.2566-45_2566-43del (n.2566-45_2566-43del) | |
| 12 | g.47977696_47977697insAGT | CA2795864226 | COL2A1 | c.2905-44_2905-43insACT (n.2905-44_2905-43insACT) c.3112-44_3112-43insACT (n.3112-44_3112-43insACT) n.2198-44_2198-43insACT c.3256-44_3256-43insACT (n.3256-44_3256-43insACT) c.3253-44_3253-43insACT (n.3253-44_3253-43insACT) c.2200-44_2200-43insACT (n.2200-44_2200-43insACT) c.3046-44_3046-43insACT (n.3046-44_3046-43insACT) c.2566-44_2566-43insACT (n.2566-44_2566-43insACT) | |
| 12 | g.47977697C>A | CA2575137322 | COL2A1 | c.2905-44G>T (n.2905-44G>T) c.3112-44G>T (n.3112-44G>T) n.2198-44G>T c.3256-44G>T (n.3256-44G>T) c.3253-44G>T (n.3253-44G>T) c.2200-44G>T (n.2200-44G>T) c.3046-44G>T (n.3046-44G>T) c.2566-44G>T (n.2566-44G>T) | |
| 12 | g.47977697C>T | CA2795864227 | COL2A1 | c.2905-44G>A (n.2905-44G>A) c.3112-44G>A (n.3112-44G>A) n.2198-44G>A c.3256-44G>A (n.3256-44G>A) c.3253-44G>A (n.3253-44G>A) c.2200-44G>A (n.2200-44G>A) c.3046-44G>A (n.3046-44G>A) c.2566-44G>A (n.2566-44G>A) | |
| 12 | g.47977698C>A | CA2575137324 | COL2A1 | c.2905-45G>T (n.2905-45G>T) c.3112-45G>T (n.3112-45G>T) n.2198-45G>T c.3256-45G>T (n.3256-45G>T) c.3253-45G>T (n.3253-45G>T) c.2200-45G>T (n.2200-45G>T) c.3046-45G>T (n.3046-45G>T) c.2566-45G>T (n.2566-45G>T) | |
| 12 | g.47977698C>T | CA2795864228 | COL2A1 | c.2905-45G>A (n.2905-45G>A) c.3112-45G>A (n.3112-45G>A) n.2198-45G>A c.3256-45G>A (n.3256-45G>A) c.3253-45G>A (n.3253-45G>A) c.2200-45G>A (n.2200-45G>A) c.3046-45G>A (n.3046-45G>A) c.2566-45G>A (n.2566-45G>A) | |
| 12 | g.47977700T>C | CA236521275 | COL2A1 | c.2905-47A>G (n.2905-47A>G) c.3112-47A>G (n.3112-47A>G) n.2198-47A>G c.3256-47A>G (n.3256-47A>G) c.3253-47A>G (n.3253-47A>G) c.2200-47A>G (n.2200-47A>G) c.3046-47A>G (n.3046-47A>G) c.2566-47A>G (n.2566-47A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977700T>G | CA2795864229 | COL2A1 | c.2905-47A>C (n.2905-47A>C) c.3112-47A>C (n.3112-47A>C) n.2198-47A>C c.3256-47A>C (n.3256-47A>C) c.3253-47A>C (n.3253-47A>C) c.2200-47A>C (n.2200-47A>C) c.3046-47A>C (n.3046-47A>C) c.2566-47A>C (n.2566-47A>C) | |
| 12 | g.47977700T= | CA2034476541 | COL2A1 | c.2905-47A= (n.2905-47A=) c.3112-47A= (n.3112-47A=) n.2198-47A= c.3256-47A= (n.3256-47A=) c.3253-47A= (n.3253-47A=) c.2200-47A= (n.2200-47A=) c.3046-47A= (n.3046-47A=) c.2566-47A= (n.2566-47A=) |