| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977361_47977379dup | CA2573148617 | COL2A1 | c.3009_3027dup (p.Ala1010ProfsTer?) c.3216_3234dup (p.Ala1079ProfsTer?) n.2302_2320dup n.69_87dup c.3360_3378dup (p.Ala1127ProfsTer?) c.3357_3375dup (p.Ala1126ProfsTer?) c.2304_2322dup (p.Ala775ProfsTer?) c.3150_3168dup (p.Ala1057ProfsTer?) c.2670_2688dup (p.Ala897ProfsTer?) | ClinVar dbSNP |
| 12 | g.47977370_47977378dup | CA605231647 | COL2A1 | c.3016_3024dup (p.Gly1008_Pro1009insSerProGly) c.3223_3231dup (p.Gly1077_Pro1078insSerProGly) n.2309_2317dup n.76_84dup c.3367_3375dup (p.Gly1125_Pro1126insSerProGly) c.3364_3372dup (p.Gly1124_Pro1125insSerProGly) c.2311_2319dup (p.Gly773_Pro774insSerProGly) c.3157_3165dup (p.Gly1055_Pro1056insSerProGly) c.2677_2685dup (p.Gly895_Pro896insSerProGly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977373C>A | CA384540282 | COL2A1 | c.3013G>T (p.Gly1005Cys) c.3220G>T (p.Gly1074Cys) n.2306G>T n.73G>T c.3364G>T (p.Gly1122Cys) c.3361G>T (p.Gly1121Cys) c.2308G>T (p.Gly770Cys) c.3154G>T (p.Gly1052Cys) c.2674G>T (p.Gly892Cys) | |
| 12 | g.47977373C= | CA2034476396 | COL2A1 | c.3013G= (p.Gly1005=) c.3220G= (p.Gly1074=) n.2306G= n.73G= c.3364G= (p.Gly1122=) c.3361G= (p.Gly1121=) c.2308G= (p.Gly770=) c.3154G= (p.Gly1052=) c.2674G= (p.Gly892=) | |
| 12 | g.47977373C>G | CA384540283 | COL2A1 | c.3013G>C (p.Gly1005Arg) c.3220G>C (p.Gly1074Arg) n.2306G>C n.73G>C c.3364G>C (p.Gly1122Arg) c.3361G>C (p.Gly1121Arg) c.2308G>C (p.Gly770Arg) c.3154G>C (p.Gly1052Arg) c.2674G>C (p.Gly892Arg) | |
| 12 | g.47977373C>T | CA250663 | COL2A1 | c.3013G>A (p.Gly1005Ser) c.3220G>A (p.Gly1074Ser) n.2306G>A n.73G>A c.3364G>A (p.Gly1122Ser) c.3361G>A (p.Gly1121Ser) c.2308G>A (p.Gly770Ser) c.3154G>A (p.Gly1052Ser) c.2674G>A (p.Gly892Ser) | ClinVar dbSNP |
| 12 | g.47977374del | CA2573148620 | COL2A1 | c.3012del (p.Gly1005AlafsTer?) c.3219del (p.Gly1074AlafsTer?) n.2305del n.72del c.3363del (p.Gly1122AlafsTer?) c.3360del (p.Gly1121AlafsTer?) c.2307del (p.Gly770AlafsTer?) c.3153del (p.Gly1052AlafsTer?) c.2673del (p.Gly892AlafsTer?) | ClinVar dbSNP |
| 12 | g.47977374A= | CA2034476397 | COL2A1 | c.3012T= (p.Pro1004=) c.3219T= (p.Pro1073=) n.2305T= n.72T= c.3363T= (p.Pro1121=) c.3360T= (p.Pro1120=) c.2307T= (p.Pro769=) c.3153T= (p.Pro1051=) c.2673T= (p.Pro891=) | |
| 12 | g.47977374A>C | CA479453856 | COL2A1 | c.3012T>G (p.Pro1004=) c.3219T>G (p.Pro1073=) n.2305T>G n.72T>G c.3363T>G (p.Pro1121=) c.3360T>G (p.Pro1120=) c.2307T>G (p.Pro769=) c.3153T>G (p.Pro1051=) c.2673T>G (p.Pro891=) | |
| 12 | g.47977374A>G | CA479453859 | COL2A1 | c.3012T>C (p.Pro1004=) c.3219T>C (p.Pro1073=) n.2305T>C n.72T>C c.3363T>C (p.Pro1121=) c.3360T>C (p.Pro1120=) c.2307T>C (p.Pro769=) c.3153T>C (p.Pro1051=) c.2673T>C (p.Pro891=) | |
| 12 | g.47977374A>T | CA479453857 | COL2A1 | c.3012T>A (p.Pro1004=) c.3219T>A (p.Pro1073=) n.2305T>A n.72T>A c.3363T>A (p.Pro1121=) c.3360T>A (p.Pro1120=) c.2307T>A (p.Pro769=) c.3153T>A (p.Pro1051=) c.2673T>A (p.Pro891=) | dbSNP |
| 12 | g.47977375G>A | CA384540286 | COL2A1 | c.3011C>T (p.Pro1004Leu) c.3218C>T (p.Pro1073Leu) n.2304C>T n.71C>T c.3362C>T (p.Pro1121Leu) c.3359C>T (p.Pro1120Leu) c.2306C>T (p.Pro769Leu) c.3152C>T (p.Pro1051Leu) c.2672C>T (p.Pro891Leu) | gnomAD v4 |
| 12 | g.47977375G>C | CA384540289 | COL2A1 | c.3011C>G (p.Pro1004Arg) c.3218C>G (p.Pro1073Arg) n.2304C>G n.71C>G c.3362C>G (p.Pro1121Arg) c.3359C>G (p.Pro1120Arg) c.2306C>G (p.Pro769Arg) c.3152C>G (p.Pro1051Arg) c.2672C>G (p.Pro891Arg) | |
| 12 | g.47977375G>T | CA384540292 | COL2A1 | c.3011C>A (p.Pro1004His) c.3218C>A (p.Pro1073His) n.2304C>A n.71C>A c.3362C>A (p.Pro1121His) c.3359C>A (p.Pro1120His) c.2306C>A (p.Pro769His) c.3152C>A (p.Pro1051His) c.2672C>A (p.Pro891His) | |
| 12 | g.47977379del | CA2618511821 | COL2A1 | c.3011del (p.Pro1004LeufsTer?) c.3218del (p.Pro1073LeufsTer?) n.2304del n.71del c.3362del (p.Pro1121LeufsTer?) c.3359del (p.Pro1120LeufsTer?) c.2306del (p.Pro769LeufsTer?) c.3152del (p.Pro1051LeufsTer?) c.2672del (p.Pro891LeufsTer?) | gnomAD v4 |
| 12 | g.47977376G>A | CA384540295 | COL2A1 | c.3010C>T (p.Pro1004Ser) c.3217C>T (p.Pro1073Ser) n.2303C>T n.70C>T c.3361C>T (p.Pro1121Ser) c.3358C>T (p.Pro1120Ser) c.2305C>T (p.Pro769Ser) c.3151C>T (p.Pro1051Ser) c.2671C>T (p.Pro891Ser) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47977376G>C | CA384540299 | COL2A1 | c.3010C>G (p.Pro1004Ala) c.3217C>G (p.Pro1073Ala) n.2303C>G n.70C>G c.3361C>G (p.Pro1121Ala) c.3358C>G (p.Pro1120Ala) c.2305C>G (p.Pro769Ala) c.3151C>G (p.Pro1051Ala) c.2671C>G (p.Pro891Ala) | |
| 12 | g.47977376G>T | CA384540297 | COL2A1 | c.3010C>A (p.Pro1004Thr) c.3217C>A (p.Pro1073Thr) n.2303C>A n.70C>A c.3361C>A (p.Pro1121Thr) c.3358C>A (p.Pro1120Thr) c.2305C>A (p.Pro769Thr) c.3151C>A (p.Pro1051Thr) c.2671C>A (p.Pro891Thr) | |
| 12 | g.47977381_47977388dup | CA2697559180 | COL2A1 | c.3003_3010dup (p.Pro1004LeufsTer?) c.3210_3217dup (p.Pro1073LeufsTer?) n.2296_2303dup n.63_70dup c.3354_3361dup (p.Pro1121LeufsTer?) c.3351_3358dup (p.Pro1120LeufsTer?) c.2298_2305dup (p.Pro769LeufsTer?) c.3144_3151dup (p.Pro1051LeufsTer?) c.2664_2671dup (p.Pro891LeufsTer?) | ClinVar |
| 12 | g.47977381_47977388del | CA2575137864 | COL2A1 | c.3003_3010del (p.Gly1002TrpfsTer?) c.3210_3217del (p.Gly1071TrpfsTer?) n.2296_2303del n.63_70del c.3354_3361del (p.Gly1119TrpfsTer?) c.3351_3358del (p.Gly1118TrpfsTer?) c.2298_2305del (p.Gly767TrpfsTer?) c.3144_3151del (p.Gly1049TrpfsTer?) c.2664_2671del (p.Gly889TrpfsTer?) | |
| 12 | g.47977377G>A | CA479453869 | COL2A1 | c.3009C>T (p.Pro1003=) c.3216C>T (p.Pro1072=) n.2302C>T n.69C>T c.3360C>T (p.Pro1120=) c.3357C>T (p.Pro1119=) c.2304C>T (p.Pro768=) c.3150C>T (p.Pro1050=) c.2670C>T (p.Pro890=) | |
| 12 | g.47977377G>C | CA479453871 | COL2A1 | c.3009C>G (p.Pro1003=) c.3216C>G (p.Pro1072=) n.2302C>G n.69C>G c.3360C>G (p.Pro1120=) c.3357C>G (p.Pro1119=) c.2304C>G (p.Pro768=) c.3150C>G (p.Pro1050=) c.2670C>G (p.Pro890=) | gnomAD v4 |
| 12 | g.47977377G>T | CA479453874 | COL2A1 | c.3009C>A (p.Pro1003=) c.3216C>A (p.Pro1072=) n.2302C>A n.69C>A c.3360C>A (p.Pro1120=) c.3357C>A (p.Pro1119=) c.2304C>A (p.Pro768=) c.3150C>A (p.Pro1050=) c.2670C>A (p.Pro890=) | |
| 12 | g.47977378G>A | CA384540301 | COL2A1 | c.3008C>T (p.Pro1003Leu) c.3215C>T (p.Pro1072Leu) n.2301C>T n.68C>T c.3359C>T (p.Pro1120Leu) c.3356C>T (p.Pro1119Leu) c.2303C>T (p.Pro768Leu) c.3149C>T (p.Pro1050Leu) c.2669C>T (p.Pro890Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977378G>C | CA384540304 | COL2A1 | c.3008C>G (p.Pro1003Arg) c.3215C>G (p.Pro1072Arg) n.2301C>G n.68C>G c.3359C>G (p.Pro1120Arg) c.3356C>G (p.Pro1119Arg) c.2303C>G (p.Pro768Arg) c.3149C>G (p.Pro1050Arg) c.2669C>G (p.Pro890Arg) | |
| 12 | g.47977378G= | CA2034476398 | COL2A1 | c.3008C= (p.Pro1003=) c.3215C= (p.Pro1072=) n.2301C= n.68C= c.3359C= (p.Pro1120=) c.3356C= (p.Pro1119=) c.2303C= (p.Pro768=) c.3149C= (p.Pro1050=) c.2669C= (p.Pro890=) | |
| 12 | g.47977378G>T | CA384540307 | COL2A1 | c.3008C>A (p.Pro1003His) c.3215C>A (p.Pro1072His) n.2301C>A n.68C>A c.3359C>A (p.Pro1120His) c.3356C>A (p.Pro1119His) c.2303C>A (p.Pro768His) c.3149C>A (p.Pro1050His) c.2669C>A (p.Pro890His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47977379G>A | CA384540309 | COL2A1 | c.3007C>T (p.Pro1003Ser) c.3214C>T (p.Pro1072Ser) n.2300C>T n.67C>T c.3358C>T (p.Pro1120Ser) c.3355C>T (p.Pro1119Ser) c.2302C>T (p.Pro768Ser) c.3148C>T (p.Pro1050Ser) c.2668C>T (p.Pro890Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977379G>C | CA236520985 | COL2A1 | c.3007C>G (p.Pro1003Ala) c.3214C>G (p.Pro1072Ala) n.2300C>G n.67C>G c.3358C>G (p.Pro1120Ala) c.3355C>G (p.Pro1119Ala) c.2302C>G (p.Pro768Ala) c.3148C>G (p.Pro1050Ala) c.2668C>G (p.Pro890Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977379G= | CA2034476399 | COL2A1 | c.3007C= (p.Pro1003=) c.3214C= (p.Pro1072=) n.2300C= n.67C= c.3358C= (p.Pro1120=) c.3355C= (p.Pro1119=) c.2302C= (p.Pro768=) c.3148C= (p.Pro1050=) c.2668C= (p.Pro890=) | |
| 12 | g.47977379G>T | CA384540312 | COL2A1 | c.3007C>A (p.Pro1003Thr) c.3214C>A (p.Pro1072Thr) n.2300C>A n.67C>A c.3358C>A (p.Pro1120Thr) c.3355C>A (p.Pro1119Thr) c.2302C>A (p.Pro768Thr) c.3148C>A (p.Pro1050Thr) c.2668C>A (p.Pro890Thr) | gnomAD v4 |
| 12 | g.47977380C>A | CA479453884 | COL2A1 | c.3006G>T (p.Gly1002=) c.3213G>T (p.Gly1071=) n.2299G>T n.66G>T c.3357G>T (p.Gly1119=) c.3354G>T (p.Gly1118=) c.2301G>T (p.Gly767=) c.3147G>T (p.Gly1049=) c.2667G>T (p.Gly889=) | gnomAD v4 |
| 12 | g.47977380C= | CA2034476400 | COL2A1 | c.3006G= (p.Gly1002=) c.3213G= (p.Gly1071=) n.2299G= n.66G= c.3357G= (p.Gly1119=) c.3354G= (p.Gly1118=) c.2301G= (p.Gly767=) c.3147G= (p.Gly1049=) c.2667G= (p.Gly889=) | |
| 12 | g.47977380C>G | CA479453885 | COL2A1 | c.3006G>C (p.Gly1002=) c.3213G>C (p.Gly1071=) n.2299G>C n.66G>C c.3357G>C (p.Gly1119=) c.3354G>C (p.Gly1118=) c.2301G>C (p.Gly767=) c.3147G>C (p.Gly1049=) c.2667G>C (p.Gly889=) | |
| 12 | g.47977380C>T | CA479453888 | COL2A1 | c.3006G>A (p.Gly1002=) c.3213G>A (p.Gly1071=) n.2299G>A n.66G>A c.3357G>A (p.Gly1119=) c.3354G>A (p.Gly1118=) c.2301G>A (p.Gly767=) c.3147G>A (p.Gly1049=) c.2667G>A (p.Gly889=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47977381C>A | CA384540316 | COL2A1 | c.3005G>T (p.Gly1002Val) c.3212G>T (p.Gly1071Val) n.2298G>T n.65G>T c.3356G>T (p.Gly1119Val) c.3353G>T (p.Gly1118Val) c.2300G>T (p.Gly767Val) c.3146G>T (p.Gly1049Val) c.2666G>T (p.Gly889Val) | |
| 12 | g.47977381C>G | CA384540319 | COL2A1 | c.3005G>C (p.Gly1002Ala) c.3212G>C (p.Gly1071Ala) n.2298G>C n.65G>C c.3356G>C (p.Gly1119Ala) c.3353G>C (p.Gly1118Ala) c.2300G>C (p.Gly767Ala) c.3146G>C (p.Gly1049Ala) c.2666G>C (p.Gly889Ala) | |
| 12 | g.47977381C>T | CA384540320 | COL2A1 | c.3005G>A (p.Gly1002Glu) c.3212G>A (p.Gly1071Glu) n.2298G>A n.65G>A c.3356G>A (p.Gly1119Glu) c.3353G>A (p.Gly1118Glu) c.2300G>A (p.Gly767Glu) c.3146G>A (p.Gly1049Glu) c.2666G>A (p.Gly889Glu) | ClinVar dbSNP |
| 12 | g.47977382C>A | CA384540324 | COL2A1 | c.3004G>T (p.Gly1002Trp) c.3211G>T (p.Gly1071Trp) n.2297G>T n.64G>T c.3355G>T (p.Gly1119Trp) c.3352G>T (p.Gly1118Trp) c.2299G>T (p.Gly767Trp) c.3145G>T (p.Gly1049Trp) c.2665G>T (p.Gly889Trp) | |
| 12 | g.47977382C>G | CA384540325 | COL2A1 | c.3004G>C (p.Gly1002Arg) c.3211G>C (p.Gly1071Arg) n.2297G>C n.64G>C c.3355G>C (p.Gly1119Arg) c.3352G>C (p.Gly1118Arg) c.2299G>C (p.Gly767Arg) c.3145G>C (p.Gly1049Arg) c.2665G>C (p.Gly889Arg) | |
| 12 | g.47977382C>T | CA384540328 | COL2A1 | c.3004G>A (p.Gly1002Arg) c.3211G>A (p.Gly1071Arg) n.2297G>A n.64G>A c.3355G>A (p.Gly1119Arg) c.3352G>A (p.Gly1118Arg) c.2299G>A (p.Gly767Arg) c.3145G>A (p.Gly1049Arg) c.2665G>A (p.Gly889Arg) | |
| 12 | g.47977383A>C | CA479453896 | COL2A1 | c.3003T>G (p.Pro1001=) c.3210T>G (p.Pro1070=) n.2296T>G n.63T>G c.3354T>G (p.Pro1118=) c.3351T>G (p.Pro1117=) c.2298T>G (p.Pro766=) c.3144T>G (p.Pro1048=) c.2664T>G (p.Pro888=) | |
| 12 | g.47977383A>G | CA479453899 | COL2A1 | c.3003T>C (p.Pro1001=) c.3210T>C (p.Pro1070=) n.2296T>C n.63T>C c.3354T>C (p.Pro1118=) c.3351T>C (p.Pro1117=) c.2298T>C (p.Pro766=) c.3144T>C (p.Pro1048=) c.2664T>C (p.Pro888=) | |
| 12 | g.47977383A>T | CA479453900 | COL2A1 | c.3003T>A (p.Pro1001=) c.3210T>A (p.Pro1070=) n.2296T>A n.63T>A c.3354T>A (p.Pro1118=) c.3351T>A (p.Pro1117=) c.2298T>A (p.Pro766=) c.3144T>A (p.Pro1048=) c.2664T>A (p.Pro888=) | |
| 12 | g.47977384G>A | CA384540338 | COL2A1 | c.3002C>T (p.Pro1001Leu) c.3209C>T (p.Pro1070Leu) n.2295C>T n.62C>T c.3353C>T (p.Pro1118Leu) c.3350C>T (p.Pro1117Leu) c.2297C>T (p.Pro766Leu) c.3143C>T (p.Pro1048Leu) c.2663C>T (p.Pro888Leu) | |
| 12 | g.47977384G>C | CA384540340 | COL2A1 | c.3002C>G (p.Pro1001Arg) c.3209C>G (p.Pro1070Arg) n.2295C>G n.62C>G c.3353C>G (p.Pro1118Arg) c.3350C>G (p.Pro1117Arg) c.2297C>G (p.Pro766Arg) c.3143C>G (p.Pro1048Arg) c.2663C>G (p.Pro888Arg) | gnomAD v4 |
| 12 | g.47977384G= | CA2034476401 | COL2A1 | c.3002C= (p.Pro1001=) c.3209C= (p.Pro1070=) n.2295C= n.62C= c.3353C= (p.Pro1118=) c.3350C= (p.Pro1117=) c.2297C= (p.Pro766=) c.3143C= (p.Pro1048=) c.2663C= (p.Pro888=) | |
| 12 | g.47977384G>T | CA6534837 | COL2A1 | c.3002C>A (p.Pro1001His) c.3209C>A (p.Pro1070His) n.2295C>A n.62C>A c.3353C>A (p.Pro1118His) c.3350C>A (p.Pro1117His) c.2297C>A (p.Pro766His) c.3143C>A (p.Pro1048His) c.2663C>A (p.Pro888His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977385G>A | CA384540345 | COL2A1 | c.3001C>T (p.Pro1001Ser) c.3208C>T (p.Pro1070Ser) n.2294C>T n.61C>T c.3352C>T (p.Pro1118Ser) c.3349C>T (p.Pro1117Ser) c.2296C>T (p.Pro766Ser) c.3142C>T (p.Pro1048Ser) c.2662C>T (p.Pro888Ser) | gnomAD v4 |
| 12 | g.47977385G>C | CA384540348 | COL2A1 | c.3001C>G (p.Pro1001Ala) c.3208C>G (p.Pro1070Ala) n.2294C>G n.61C>G c.3352C>G (p.Pro1118Ala) c.3349C>G (p.Pro1117Ala) c.2296C>G (p.Pro766Ala) c.3142C>G (p.Pro1048Ala) c.2662C>G (p.Pro888Ala) |