| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 12 | g.47978105T>G | CA384540966 | COL2A1 | c.2809A>C (p.Lys937Gln) c.3016A>C (p.Lys1006Gln) n.2102A>C c.3160A>C (p.Lys1054Gln) c.3157A>C (p.Lys1053Gln) c.2104A>C (p.Lys702Gln) c.2950A>C (p.Lys984Gln) c.2470A>C (p.Lys824Gln) | |
| 12 | g.47978106G>A | CA479455536 | COL2A1 | c.2808C>T (p.Gly936=) c.3015C>T (p.Gly1005=) n.2101C>T c.3159C>T (p.Gly1053=) c.3156C>T (p.Gly1052=) c.2103C>T (p.Gly701=) c.2949C>T (p.Gly983=) c.2469C>T (p.Gly823=) | |
| 12 | g.47978106G>C | CA479455533 | COL2A1 | c.2808C>G (p.Gly936=) c.3015C>G (p.Gly1005=) n.2101C>G c.3159C>G (p.Gly1053=) c.3156C>G (p.Gly1052=) c.2103C>G (p.Gly701=) c.2949C>G (p.Gly983=) c.2469C>G (p.Gly823=) | |
| 12 | g.47978106G= | CA2034476717 | COL2A1 | c.2808C= (p.Gly936=) c.3015C= (p.Gly1005=) n.2101C= c.3159C= (p.Gly1053=) c.3156C= (p.Gly1052=) c.2103C= (p.Gly701=) c.2949C= (p.Gly983=) c.2469C= (p.Gly823=) | |
| 12 | g.47978106G>T | CA479455529 | COL2A1 | c.2808C>A (p.Gly936=) c.3015C>A (p.Gly1005=) n.2101C>A c.3159C>A (p.Gly1053=) c.3156C>A (p.Gly1052=) c.2103C>A (p.Gly701=) c.2949C>A (p.Gly983=) c.2469C>A (p.Gly823=) | dbSNP gnomAD v2 |
| 12 | g.47978107C>A | CA384540971 | COL2A1 | c.2807G>T (p.Gly936Val) c.3014G>T (p.Gly1005Val) n.2100G>T c.3158G>T (p.Gly1053Val) c.3155G>T (p.Gly1052Val) c.2102G>T (p.Gly701Val) c.2948G>T (p.Gly983Val) c.2468G>T (p.Gly823Val) | |
| 12 | g.47978107C>G | CA384540973 | COL2A1 | c.2807G>C (p.Gly936Ala) c.3014G>C (p.Gly1005Ala) n.2100G>C c.3158G>C (p.Gly1053Ala) c.3155G>C (p.Gly1052Ala) c.2102G>C (p.Gly701Ala) c.2948G>C (p.Gly983Ala) c.2468G>C (p.Gly823Ala) | |
| 12 | g.47978107C>T | CA384540975 | COL2A1 | c.2807G>A (p.Gly936Asp) c.3014G>A (p.Gly1005Asp) n.2100G>A c.3158G>A (p.Gly1053Asp) c.3155G>A (p.Gly1052Asp) c.2102G>A (p.Gly701Asp) c.2948G>A (p.Gly983Asp) c.2468G>A (p.Gly823Asp) | gnomAD v4 |
| 12 | g.47978108C>A | CA384540978 | COL2A1 | c.2806G>T (p.Gly936Cys) c.3013G>T (p.Gly1005Cys) n.2099G>T c.3157G>T (p.Gly1053Cys) c.3154G>T (p.Gly1052Cys) c.2101G>T (p.Gly701Cys) c.2947G>T (p.Gly983Cys) c.2467G>T (p.Gly823Cys) | |
| 12 | g.47978108C= | CA2034476718 | COL2A1 | c.2806G= (p.Gly936=) c.3013G= (p.Gly1005=) n.2099G= c.3157G= (p.Gly1053=) c.3154G= (p.Gly1052=) c.2101G= (p.Gly701=) c.2947G= (p.Gly983=) c.2467G= (p.Gly823=) | |
| 12 | g.47978108C>G | CA384540980 | COL2A1 | c.2806G>C (p.Gly936Arg) c.3013G>C (p.Gly1005Arg) n.2099G>C c.3157G>C (p.Gly1053Arg) c.3154G>C (p.Gly1052Arg) c.2101G>C (p.Gly701Arg) c.2947G>C (p.Gly983Arg) c.2467G>C (p.Gly823Arg) | |
| 12 | g.47978108C>T | CA6534912 | COL2A1 | c.2806G>A (p.Gly936Ser) c.3013G>A (p.Gly1005Ser) n.2099G>A c.3157G>A (p.Gly1053Ser) c.3154G>A (p.Gly1052Ser) c.2101G>A (p.Gly701Ser) c.2947G>A (p.Gly983Ser) c.2467G>A (p.Gly823Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978109G>A | CA6534913 | COL2A1 | c.2805C>T (p.Pro935=) c.3012C>T (p.Pro1004=) n.2098C>T c.3156C>T (p.Pro1052=) c.3153C>T (p.Pro1051=) c.2100C>T (p.Pro700=) c.2946C>T (p.Pro982=) c.2466C>T (p.Pro822=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978109G>C | CA479455554 | COL2A1 | c.2805C>G (p.Pro935=) c.3012C>G (p.Pro1004=) n.2098C>G c.3156C>G (p.Pro1052=) c.3153C>G (p.Pro1051=) c.2100C>G (p.Pro700=) c.2946C>G (p.Pro982=) c.2466C>G (p.Pro822=) | |
| 12 | g.47978109G= | CA2034476719 | COL2A1 | c.2805C= (p.Pro935=) c.3012C= (p.Pro1004=) n.2098C= c.3156C= (p.Pro1052=) c.3153C= (p.Pro1051=) c.2100C= (p.Pro700=) c.2946C= (p.Pro982=) c.2466C= (p.Pro822=) | |
| 12 | g.47978109G>T | CA479455557 | COL2A1 | c.2805C>A (p.Pro935=) c.3012C>A (p.Pro1004=) n.2098C>A c.3156C>A (p.Pro1052=) c.3153C>A (p.Pro1051=) c.2100C>A (p.Pro700=) c.2946C>A (p.Pro982=) c.2466C>A (p.Pro822=) | gnomAD v4 |
| 12 | g.47978111del | CA2695216646 | COL2A1 | c.2805del (p.Gly936AlafsTer23) c.3012del (p.Gly1005AlafsTer23) n.2098del c.3156del (p.Gly1053AlafsTer23) c.3153del (p.Gly1052AlafsTer23) c.2100del (p.Gly701AlafsTer23) c.2946del (p.Gly983AlafsTer23) c.2466del (p.Gly823AlafsTer23) | |
| 12 | g.47978110G>A | CA384540986 | COL2A1 | c.2804C>T (p.Pro935Leu) c.3011C>T (p.Pro1004Leu) n.2097C>T c.3155C>T (p.Pro1052Leu) c.3152C>T (p.Pro1051Leu) c.2099C>T (p.Pro700Leu) c.2945C>T (p.Pro982Leu) c.2465C>T (p.Pro822Leu) | |
| 12 | g.47978110G>C | CA384540988 | COL2A1 | c.2804C>G (p.Pro935Arg) c.3011C>G (p.Pro1004Arg) n.2097C>G c.3155C>G (p.Pro1052Arg) c.3152C>G (p.Pro1051Arg) c.2099C>G (p.Pro700Arg) c.2945C>G (p.Pro982Arg) c.2465C>G (p.Pro822Arg) | |
| 12 | g.47978110G>T | CA384540989 | COL2A1 | c.2804C>A (p.Pro935His) c.3011C>A (p.Pro1004His) n.2097C>A c.3155C>A (p.Pro1052His) c.3152C>A (p.Pro1051His) c.2099C>A (p.Pro700His) c.2945C>A (p.Pro982His) c.2465C>A (p.Pro822His) | |
| 12 | g.47978111G>A | CA384540995 | COL2A1 | c.2803C>T (p.Pro935Ser) c.3010C>T (p.Pro1004Ser) n.2096C>T c.3154C>T (p.Pro1052Ser) c.3151C>T (p.Pro1051Ser) c.2098C>T (p.Pro700Ser) c.2944C>T (p.Pro982Ser) c.2464C>T (p.Pro822Ser) | COSMIC COSMIC |
| 12 | g.47978111G>C | CA384540997 | COL2A1 | c.2803C>G (p.Pro935Ala) c.3010C>G (p.Pro1004Ala) n.2096C>G c.3154C>G (p.Pro1052Ala) c.3151C>G (p.Pro1051Ala) c.2098C>G (p.Pro700Ala) c.2944C>G (p.Pro982Ala) c.2464C>G (p.Pro822Ala) | |
| 12 | g.47978111G>T | CA384540992 | COL2A1 | c.2803C>A (p.Pro935Thr) c.3010C>A (p.Pro1004Thr) n.2096C>A c.3154C>A (p.Pro1052Thr) c.3151C>A (p.Pro1051Thr) c.2098C>A (p.Pro700Thr) c.2944C>A (p.Pro982Thr) c.2464C>A (p.Pro822Thr) |