| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978091A>C | CA479455401 | COL2A1 | c.2823T>G (p.Pro941=) c.3030T>G (p.Pro1010=) n.2116T>G c.3174T>G (p.Pro1058=) c.3171T>G (p.Pro1057=) c.2118T>G (p.Pro706=) c.2964T>G (p.Pro988=) c.2484T>G (p.Pro828=) | |
| 12 | g.47978091A>G | CA479455404 | COL2A1 | c.2823T>C (p.Pro941=) c.3030T>C (p.Pro1010=) n.2116T>C c.3174T>C (p.Pro1058=) c.3171T>C (p.Pro1057=) c.2118T>C (p.Pro706=) c.2964T>C (p.Pro988=) c.2484T>C (p.Pro828=) | |
| 12 | g.47978091A>T | CA479455406 | COL2A1 | c.2823T>A (p.Pro941=) c.3030T>A (p.Pro1010=) n.2116T>A c.3174T>A (p.Pro1058=) c.3171T>A (p.Pro1057=) c.2118T>A (p.Pro706=) c.2964T>A (p.Pro988=) c.2484T>A (p.Pro828=) | |
| 12 | g.47978092G>A | CA384540893 | COL2A1 | c.2822C>T (p.Pro941Leu) c.3029C>T (p.Pro1010Leu) n.2115C>T c.3173C>T (p.Pro1058Leu) c.3170C>T (p.Pro1057Leu) c.2117C>T (p.Pro706Leu) c.2963C>T (p.Pro988Leu) c.2483C>T (p.Pro828Leu) | |
| 12 | g.47978092G>C | CA384540894 | COL2A1 | c.2822C>G (p.Pro941Arg) c.3029C>G (p.Pro1010Arg) n.2115C>G c.3173C>G (p.Pro1058Arg) c.3170C>G (p.Pro1057Arg) c.2117C>G (p.Pro706Arg) c.2963C>G (p.Pro988Arg) c.2483C>G (p.Pro828Arg) | |
| 12 | g.47978092G>T | CA384540895 | COL2A1 | c.2822C>A (p.Pro941His) c.3029C>A (p.Pro1010His) n.2115C>A c.3173C>A (p.Pro1058His) c.3170C>A (p.Pro1057His) c.2117C>A (p.Pro706His) c.2963C>A (p.Pro988His) c.2483C>A (p.Pro828His) | |
| 12 | g.47978093G>A | CA384540898 | COL2A1 | c.2821C>T (p.Pro941Ser) c.3028C>T (p.Pro1010Ser) n.2114C>T c.3172C>T (p.Pro1058Ser) c.3169C>T (p.Pro1057Ser) c.2116C>T (p.Pro706Ser) c.2962C>T (p.Pro988Ser) c.2482C>T (p.Pro828Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978093G>C | CA384540907 | COL2A1 | c.2821C>G (p.Pro941Ala) c.3028C>G (p.Pro1010Ala) n.2114C>G c.3172C>G (p.Pro1058Ala) c.3169C>G (p.Pro1057Ala) c.2116C>G (p.Pro706Ala) c.2962C>G (p.Pro988Ala) c.2482C>G (p.Pro828Ala) | |
| 12 | g.47978093G= | CA2034476713 | COL2A1 | c.2821C= (p.Pro941=) c.3028C= (p.Pro1010=) n.2114C= c.3172C= (p.Pro1058=) c.3169C= (p.Pro1057=) c.2116C= (p.Pro706=) c.2962C= (p.Pro988=) c.2482C= (p.Pro828=) | |
| 12 | g.47978093G>T | CA384540905 | COL2A1 | c.2821C>A (p.Pro941Thr) c.3028C>A (p.Pro1010Thr) n.2114C>A c.3172C>A (p.Pro1058Thr) c.3169C>A (p.Pro1057Thr) c.2116C>A (p.Pro706Thr) c.2962C>A (p.Pro988Thr) c.2482C>A (p.Pro828Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978094A>C | CA479455422 | COL2A1 | c.2820T>G (p.Ala940=) c.3027T>G (p.Ala1009=) n.2113T>G c.3171T>G (p.Ala1057=) c.3168T>G (p.Ala1056=) c.2115T>G (p.Ala705=) c.2961T>G (p.Ala987=) c.2481T>G (p.Ala827=) | |
| 12 | g.47978094A>G | CA479455426 | COL2A1 | c.2820T>C (p.Ala940=) c.3027T>C (p.Ala1009=) n.2113T>C c.3171T>C (p.Ala1057=) c.3168T>C (p.Ala1056=) c.2115T>C (p.Ala705=) c.2961T>C (p.Ala987=) c.2481T>C (p.Ala827=) | |
| 12 | g.47978094A>T | CA479455428 | COL2A1 | c.2820T>A (p.Ala940=) c.3027T>A (p.Ala1009=) n.2113T>A c.3171T>A (p.Ala1057=) c.3168T>A (p.Ala1056=) c.2115T>A (p.Ala705=) c.2961T>A (p.Ala987=) c.2481T>A (p.Ala827=) | |
| 12 | g.47978095G>A | CA384540910 | COL2A1 | c.2819C>T (p.Ala940Val) c.3026C>T (p.Ala1009Val) n.2112C>T c.3170C>T (p.Ala1057Val) c.3167C>T (p.Ala1056Val) c.2114C>T (p.Ala705Val) c.2960C>T (p.Ala987Val) c.2480C>T (p.Ala827Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978095G>C | CA384540912 | COL2A1 | c.2819C>G (p.Ala940Gly) c.3026C>G (p.Ala1009Gly) n.2112C>G c.3170C>G (p.Ala1057Gly) c.3167C>G (p.Ala1056Gly) c.2114C>G (p.Ala705Gly) c.2960C>G (p.Ala987Gly) c.2480C>G (p.Ala827Gly) | |
| 12 | g.47978095G= | CA2034476714 | COL2A1 | c.2819C= (p.Ala940=) c.3026C= (p.Ala1009=) n.2112C= c.3170C= (p.Ala1057=) c.3167C= (p.Ala1056=) c.2114C= (p.Ala705=) c.2960C= (p.Ala987=) c.2480C= (p.Ala827=) | |
| 12 | g.47978095G>T | CA384540914 | COL2A1 | c.2819C>A (p.Ala940Asp) c.3026C>A (p.Ala1009Asp) n.2112C>A c.3170C>A (p.Ala1057Asp) c.3167C>A (p.Ala1056Asp) c.2114C>A (p.Ala705Asp) c.2960C>A (p.Ala987Asp) c.2480C>A (p.Ala827Asp) | |
| 12 | g.47978096C>A | CA384540916 | COL2A1 | c.2818G>T (p.Ala940Ser) c.3025G>T (p.Ala1009Ser) n.2111G>T c.3169G>T (p.Ala1057Ser) c.3166G>T (p.Ala1056Ser) c.2113G>T (p.Ala705Ser) c.2959G>T (p.Ala987Ser) c.2479G>T (p.Ala827Ser) | |
| 12 | g.47978096C>G | CA384540919 | COL2A1 | c.2818G>C (p.Ala940Pro) c.3025G>C (p.Ala1009Pro) n.2111G>C c.3169G>C (p.Ala1057Pro) c.3166G>C (p.Ala1056Pro) c.2113G>C (p.Ala705Pro) c.2959G>C (p.Ala987Pro) c.2479G>C (p.Ala827Pro) | |
| 12 | g.47978096C>T | CA384540921 | COL2A1 | c.2818G>A (p.Ala940Thr) c.3025G>A (p.Ala1009Thr) n.2111G>A c.3169G>A (p.Ala1057Thr) c.3166G>A (p.Ala1056Thr) c.2113G>A (p.Ala705Thr) c.2959G>A (p.Ala987Thr) c.2479G>A (p.Ala827Thr) | |
| 12 | g.47978097A>C | CA479455453 | COL2A1 | c.2817T>G (p.Gly939=) c.3024T>G (p.Gly1008=) n.2110T>G c.3168T>G (p.Gly1056=) c.3165T>G (p.Gly1055=) c.2112T>G (p.Gly704=) c.2958T>G (p.Gly986=) c.2478T>G (p.Gly826=) | |
| 12 | g.47978097A>G | CA479455454 | COL2A1 | c.2817T>C (p.Gly939=) c.3024T>C (p.Gly1008=) n.2110T>C c.3168T>C (p.Gly1056=) c.3165T>C (p.Gly1055=) c.2112T>C (p.Gly704=) c.2958T>C (p.Gly986=) c.2478T>C (p.Gly826=) | |
| 12 | g.47978097A>T | CA479455455 | COL2A1 | c.2817T>A (p.Gly939=) c.3024T>A (p.Gly1008=) n.2110T>A c.3168T>A (p.Gly1056=) c.3165T>A (p.Gly1055=) c.2112T>A (p.Gly704=) c.2958T>A (p.Gly986=) c.2478T>A (p.Gly826=) | |
| 12 | g.47978098C>A | CA16043471 | COL2A1 | c.2816G>T (p.Gly939Val) c.3023G>T (p.Gly1008Val) n.2109G>T c.3167G>T (p.Gly1056Val) c.3164G>T (p.Gly1055Val) c.2111G>T (p.Gly704Val) c.2957G>T (p.Gly986Val) c.2477G>T (p.Gly826Val) | ClinVar dbSNP |
| 12 | g.47978098C= | CA2034476715 | COL2A1 | c.2816G= (p.Gly939=) c.3023G= (p.Gly1008=) n.2109G= c.3167G= (p.Gly1056=) c.3164G= (p.Gly1055=) c.2111G= (p.Gly704=) c.2957G= (p.Gly986=) c.2477G= (p.Gly826=) | |
| 12 | g.47978098C>G | CA384540924 | COL2A1 | c.2816G>C (p.Gly939Ala) c.3023G>C (p.Gly1008Ala) n.2109G>C c.3167G>C (p.Gly1056Ala) c.3164G>C (p.Gly1055Ala) c.2111G>C (p.Gly704Ala) c.2957G>C (p.Gly986Ala) c.2477G>C (p.Gly826Ala) | |
| 12 | g.47978098C>T | CA6534911 | COL2A1 | c.2816G>A (p.Gly939Asp) c.3023G>A (p.Gly1008Asp) n.2109G>A c.3167G>A (p.Gly1056Asp) c.3164G>A (p.Gly1055Asp) c.2111G>A (p.Gly704Asp) c.2957G>A (p.Gly986Asp) c.2477G>A (p.Gly826Asp) | dbSNP ExAC gnomAD v2 |
| 12 | g.47978100dup | CA2695216645 | COL2A1 | c.2816dup (p.Ala940CysfsTer25) c.3023dup (p.Ala1009CysfsTer25) n.2109dup c.3167dup (p.Ala1057CysfsTer25) c.3164dup (p.Ala1056CysfsTer25) c.2111dup (p.Ala705CysfsTer25) c.2957dup (p.Ala987CysfsTer25) c.2477dup (p.Ala827CysfsTer25) | |
| 12 | g.47978100del | CA2695216644 | COL2A1 | c.2816del (p.Gly939ValfsTer20) c.3023del (p.Gly1008ValfsTer20) n.2109del c.3167del (p.Gly1056ValfsTer20) c.3164del (p.Gly1055ValfsTer20) c.2111del (p.Gly704ValfsTer20) c.2957del (p.Gly986ValfsTer20) c.2477del (p.Gly826ValfsTer20) | |
| 12 | g.47978099C>A | CA384540933 | COL2A1 | c.2815G>T (p.Gly939Cys) c.3022G>T (p.Gly1008Cys) n.2108G>T c.3166G>T (p.Gly1056Cys) c.3163G>T (p.Gly1055Cys) c.2110G>T (p.Gly704Cys) c.2956G>T (p.Gly986Cys) c.2476G>T (p.Gly826Cys) | ClinVar dbSNP |
| 12 | g.47978099C>G | CA384540932 | COL2A1 | c.2815G>C (p.Gly939Arg) c.3022G>C (p.Gly1008Arg) n.2108G>C c.3166G>C (p.Gly1056Arg) c.3163G>C (p.Gly1055Arg) c.2110G>C (p.Gly704Arg) c.2956G>C (p.Gly986Arg) c.2476G>C (p.Gly826Arg) | |
| 12 | g.47978099C>T | CA384540930 | COL2A1 | c.2815G>A (p.Gly939Ser) c.3022G>A (p.Gly1008Ser) n.2108G>A c.3166G>A (p.Gly1056Ser) c.3163G>A (p.Gly1055Ser) c.2110G>A (p.Gly704Ser) c.2956G>A (p.Gly986Ser) c.2476G>A (p.Gly826Ser) | |
| 12 | g.47978100C>A | CA384540937 | COL2A1 | c.2814G>T (p.Gln938His) c.3021G>T (p.Gln1007His) n.2107G>T c.3165G>T (p.Gln1055His) c.3162G>T (p.Gln1054His) c.2109G>T (p.Gln703His) c.2955G>T (p.Gln985His) c.2475G>T (p.Gln825His) | |
| 12 | g.47978100C>G | CA384540939 | COL2A1 | c.2814G>C (p.Gln938His) c.3021G>C (p.Gln1007His) n.2107G>C c.3165G>C (p.Gln1055His) c.3162G>C (p.Gln1054His) c.2109G>C (p.Gln703His) c.2955G>C (p.Gln985His) c.2475G>C (p.Gln825His) | |
| 12 | g.47978100C>T | CA479455482 | COL2A1 | c.2814G>A (p.Gln938=) c.3021G>A (p.Gln1007=) n.2107G>A c.3165G>A (p.Gln1055=) c.3162G>A (p.Gln1054=) c.2109G>A (p.Gln703=) c.2955G>A (p.Gln985=) c.2475G>A (p.Gln825=) | ClinVar |
| 12 | g.47978101T>A | CA384540941 | COL2A1 | c.2813A>T (p.Gln938Leu) c.3020A>T (p.Gln1007Leu) n.2106A>T c.3164A>T (p.Gln1055Leu) c.3161A>T (p.Gln1054Leu) c.2108A>T (p.Gln703Leu) c.2954A>T (p.Gln985Leu) c.2474A>T (p.Gln825Leu) | |
| 12 | g.47978101T>C | CA384540943 | COL2A1 | c.2813A>G (p.Gln938Arg) c.3020A>G (p.Gln1007Arg) n.2106A>G c.3164A>G (p.Gln1055Arg) c.3161A>G (p.Gln1054Arg) c.2108A>G (p.Gln703Arg) c.2954A>G (p.Gln985Arg) c.2474A>G (p.Gln825Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978101T>G | CA236521604 | COL2A1 | c.2813A>C (p.Gln938Pro) c.3020A>C (p.Gln1007Pro) n.2106A>C c.3164A>C (p.Gln1055Pro) c.3161A>C (p.Gln1054Pro) c.2108A>C (p.Gln703Pro) c.2954A>C (p.Gln985Pro) c.2474A>C (p.Gln825Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978101T= | CA2034476716 | COL2A1 | c.2813A= (p.Gln938=) c.3020A= (p.Gln1007=) n.2106A= c.3164A= (p.Gln1055=) c.3161A= (p.Gln1054=) c.2108A= (p.Gln703=) c.2954A= (p.Gln985=) c.2474A= (p.Gln825=) | |
| 12 | g.47978102G>A | CA384540946 | COL2A1 | c.2812C>T (p.Gln938Ter) c.3019C>T (p.Gln1007Ter) n.2105C>T c.3163C>T (p.Gln1055Ter) c.3160C>T (p.Gln1054Ter) c.2107C>T (p.Gln703Ter) c.2953C>T (p.Gln985Ter) c.2473C>T (p.Gln825Ter) | |
| 12 | g.47978102G>C | CA384540948 | COL2A1 | c.2812C>G (p.Gln938Glu) c.3019C>G (p.Gln1007Glu) n.2105C>G c.3163C>G (p.Gln1055Glu) c.3160C>G (p.Gln1054Glu) c.2107C>G (p.Gln703Glu) c.2953C>G (p.Gln985Glu) c.2473C>G (p.Gln825Glu) | |
| 12 | g.47978102G>T | CA384540950 | COL2A1 | c.2812C>A (p.Gln938Lys) c.3019C>A (p.Gln1007Lys) n.2105C>A c.3163C>A (p.Gln1055Lys) c.3160C>A (p.Gln1054Lys) c.2107C>A (p.Gln703Lys) c.2953C>A (p.Gln985Lys) c.2473C>A (p.Gln825Lys) | |
| 12 | g.47978103C>A | CA384540953 | COL2A1 | c.2811G>T (p.Lys937Asn) c.3018G>T (p.Lys1006Asn) n.2104G>T c.3162G>T (p.Lys1054Asn) c.3159G>T (p.Lys1053Asn) c.2106G>T (p.Lys702Asn) c.2952G>T (p.Lys984Asn) c.2472G>T (p.Lys824Asn) | gnomAD v4 |
| 12 | g.47978103C>G | CA384540954 | COL2A1 | c.2811G>C (p.Lys937Asn) c.3018G>C (p.Lys1006Asn) n.2104G>C c.3162G>C (p.Lys1054Asn) c.3159G>C (p.Lys1053Asn) c.2106G>C (p.Lys702Asn) c.2952G>C (p.Lys984Asn) c.2472G>C (p.Lys824Asn) | |
| 12 | g.47978103C>T | CA479455509 | COL2A1 | c.2811G>A (p.Lys937=) c.3018G>A (p.Lys1006=) n.2104G>A c.3162G>A (p.Lys1054=) c.3159G>A (p.Lys1053=) c.2106G>A (p.Lys702=) c.2952G>A (p.Lys984=) c.2472G>A (p.Lys824=) | |
| 12 | g.47978104T>A | CA384540957 | COL2A1 | c.2810A>T (p.Lys937Met) c.3017A>T (p.Lys1006Met) n.2103A>T c.3161A>T (p.Lys1054Met) c.3158A>T (p.Lys1053Met) c.2105A>T (p.Lys702Met) c.2951A>T (p.Lys984Met) c.2471A>T (p.Lys824Met) | |
| 12 | g.47978104T>C | CA384540958 | COL2A1 | c.2810A>G (p.Lys937Arg) c.3017A>G (p.Lys1006Arg) n.2103A>G c.3161A>G (p.Lys1054Arg) c.3158A>G (p.Lys1053Arg) c.2105A>G (p.Lys702Arg) c.2951A>G (p.Lys984Arg) c.2471A>G (p.Lys824Arg) | |
| 12 | g.47978104T>G | CA384540960 | COL2A1 | c.2810A>C (p.Lys937Thr) c.3017A>C (p.Lys1006Thr) n.2103A>C c.3161A>C (p.Lys1054Thr) c.3158A>C (p.Lys1053Thr) c.2105A>C (p.Lys702Thr) c.2951A>C (p.Lys984Thr) c.2471A>C (p.Lys824Thr) | |
| 12 | g.47978105T>A | CA384540963 | COL2A1 | c.2809A>T (p.Lys937Ter) c.3016A>T (p.Lys1006Ter) n.2102A>T c.3160A>T (p.Lys1054Ter) c.3157A>T (p.Lys1053Ter) c.2104A>T (p.Lys702Ter) c.2950A>T (p.Lys984Ter) c.2470A>T (p.Lys824Ter) | |
| 12 | g.47978105T>C | CA384540968 | COL2A1 | c.2809A>G (p.Lys937Glu) c.3016A>G (p.Lys1006Glu) n.2102A>G c.3160A>G (p.Lys1054Glu) c.3157A>G (p.Lys1053Glu) c.2104A>G (p.Lys702Glu) c.2950A>G (p.Lys984Glu) c.2470A>G (p.Lys824Glu) |