WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.47977363C>A | CA235882 | COL2A1 | c.3023G>T (p.Gly1008Val) c.3230G>T (p.Gly1077Val) n.2316G>T n.83G>T c.3374G>T (p.Gly1125Val) c.3371G>T (p.Gly1124Val) c.2318G>T (p.Gly773Val) c.3164G>T (p.Gly1055Val) c.2684G>T (p.Gly895Val) | ClinVar dbSNP |
| 12 | g.47977363C= | CA2034476391 | COL2A1 | c.3023G= (p.Gly1008=) c.3230G= (p.Gly1077=) n.2316G= n.83G= c.3374G= (p.Gly1125=) c.3371G= (p.Gly1124=) c.2318G= (p.Gly773=) c.3164G= (p.Gly1055=) c.2684G= (p.Gly895=) | |
| 12 | g.47977363C>G | CA384540227 | COL2A1 | c.3023G>C (p.Gly1008Ala) c.3230G>C (p.Gly1077Ala) n.2316G>C n.83G>C c.3374G>C (p.Gly1125Ala) c.3371G>C (p.Gly1124Ala) c.2318G>C (p.Gly773Ala) c.3164G>C (p.Gly1055Ala) c.2684G>C (p.Gly895Ala) | |
| 12 | g.47977363C>T | CA384540230 | COL2A1 | c.3023G>A (p.Gly1008Asp) c.3230G>A (p.Gly1077Asp) n.2316G>A n.83G>A c.3374G>A (p.Gly1125Asp) c.3371G>A (p.Gly1124Asp) c.2318G>A (p.Gly773Asp) c.3164G>A (p.Gly1055Asp) c.2684G>A (p.Gly895Asp) | COSMIC COSMIC |
| 12 | g.47977364C>A | CA384540238 | COL2A1 | c.3022G>T (p.Gly1008Cys) c.3229G>T (p.Gly1077Cys) n.2315G>T n.82G>T c.3373G>T (p.Gly1125Cys) c.3370G>T (p.Gly1124Cys) c.2317G>T (p.Gly773Cys) c.3163G>T (p.Gly1055Cys) c.2683G>T (p.Gly895Cys) | |
| 12 | g.47977364C>G | CA384540236 | COL2A1 | c.3022G>C (p.Gly1008Arg) c.3229G>C (p.Gly1077Arg) n.2315G>C n.82G>C c.3373G>C (p.Gly1125Arg) c.3370G>C (p.Gly1124Arg) c.2317G>C (p.Gly773Arg) c.3163G>C (p.Gly1055Arg) c.2683G>C (p.Gly895Arg) | |
| 12 | g.47977364C>T | CA384540234 | COL2A1 | c.3022G>A (p.Gly1008Ser) c.3229G>A (p.Gly1077Ser) n.2315G>A n.82G>A c.3373G>A (p.Gly1125Ser) c.3370G>A (p.Gly1124Ser) c.2317G>A (p.Gly773Ser) c.3163G>A (p.Gly1055Ser) c.2683G>A (p.Gly895Ser) | |
| 12 | g.47977365del | CA2695216638 | COL2A1 | c.3021del (p.Gly1008AlafsTer?) c.3228del (p.Gly1077AlafsTer?) n.2314del n.81del c.3372del (p.Gly1125AlafsTer?) c.3369del (p.Gly1124AlafsTer?) c.2316del (p.Gly773AlafsTer?) c.3162del (p.Gly1055AlafsTer?) c.2682del (p.Gly895AlafsTer?) | |
| 12 | g.47977365A= | CA2034476392 | COL2A1 | c.3021T= (p.Pro1007=) c.3228T= (p.Pro1076=) n.2314T= n.81T= c.3372T= (p.Pro1124=) c.3369T= (p.Pro1123=) c.2316T= (p.Pro772=) c.3162T= (p.Pro1054=) c.2682T= (p.Pro894=) | |
| 12 | g.47977365A>C | CA479453818 | COL2A1 | c.3021T>G (p.Pro1007=) c.3228T>G (p.Pro1076=) n.2314T>G n.81T>G c.3372T>G (p.Pro1124=) c.3369T>G (p.Pro1123=) c.2316T>G (p.Pro772=) c.3162T>G (p.Pro1054=) c.2682T>G (p.Pro894=) | |
| 12 | g.47977365A>G | CA6534833 | COL2A1 | c.3021T>C (p.Pro1007=) c.3228T>C (p.Pro1076=) n.2314T>C n.81T>C c.3372T>C (p.Pro1124=) c.3369T>C (p.Pro1123=) c.2316T>C (p.Pro772=) c.3162T>C (p.Pro1054=) c.2682T>C (p.Pro894=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977365A>T | CA479453821 | COL2A1 | c.3021T>A (p.Pro1007=) c.3228T>A (p.Pro1076=) n.2314T>A n.81T>A c.3372T>A (p.Pro1124=) c.3369T>A (p.Pro1123=) c.2316T>A (p.Pro772=) c.3162T>A (p.Pro1054=) c.2682T>A (p.Pro894=) | |
| 12 | g.47977366G>A | CA6534834 | COL2A1 | c.3020C>T (p.Pro1007Leu) c.3227C>T (p.Pro1076Leu) n.2313C>T n.80C>T c.3371C>T (p.Pro1124Leu) c.3368C>T (p.Pro1123Leu) c.2315C>T (p.Pro772Leu) c.3161C>T (p.Pro1054Leu) c.2681C>T (p.Pro894Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977366G>C | CA384540244 | COL2A1 | c.3020C>G (p.Pro1007Arg) c.3227C>G (p.Pro1076Arg) n.2313C>G n.80C>G c.3371C>G (p.Pro1124Arg) c.3368C>G (p.Pro1123Arg) c.2315C>G (p.Pro772Arg) c.3161C>G (p.Pro1054Arg) c.2681C>G (p.Pro894Arg) | |
| 12 | g.47977366G= | CA2034476393 | COL2A1 | c.3020C= (p.Pro1007=) c.3227C= (p.Pro1076=) n.2313C= n.80C= c.3371C= (p.Pro1124=) c.3368C= (p.Pro1123=) c.2315C= (p.Pro772=) c.3161C= (p.Pro1054=) c.2681C= (p.Pro894=) | |
| 12 | g.47977366G>T | CA384540247 | COL2A1 | c.3020C>A (p.Pro1007His) c.3227C>A (p.Pro1076His) n.2313C>A n.80C>A c.3371C>A (p.Pro1124His) c.3368C>A (p.Pro1123His) c.2315C>A (p.Pro772His) c.3161C>A (p.Pro1054His) c.2681C>A (p.Pro894His) | |
| 12 | g.47977369del | CA2580085491 | COL2A1 | c.3020del (p.Pro1007LeufsTer?) c.3227del (p.Pro1076LeufsTer?) n.2313del n.80del c.3371del (p.Pro1124LeufsTer?) c.3368del (p.Pro1123LeufsTer?) c.2315del (p.Pro772LeufsTer?) c.3161del (p.Pro1054LeufsTer?) c.2681del (p.Pro894LeufsTer?) | ClinVar gnomAD v4 |
| 12 | g.47977367G>A | CA384540251 | COL2A1 | c.3019C>T (p.Pro1007Ser) c.3226C>T (p.Pro1076Ser) n.2312C>T n.79C>T c.3370C>T (p.Pro1124Ser) c.3367C>T (p.Pro1123Ser) c.2314C>T (p.Pro772Ser) c.3160C>T (p.Pro1054Ser) c.2680C>T (p.Pro894Ser) | |
| 12 | g.47977367G>C | CA384540253 | COL2A1 | c.3019C>G (p.Pro1007Ala) c.3226C>G (p.Pro1076Ala) n.2312C>G n.79C>G c.3370C>G (p.Pro1124Ala) c.3367C>G (p.Pro1123Ala) c.2314C>G (p.Pro772Ala) c.3160C>G (p.Pro1054Ala) c.2680C>G (p.Pro894Ala) | |
| 12 | g.47977367G>T | CA384540255 | COL2A1 | c.3019C>A (p.Pro1007Thr) c.3226C>A (p.Pro1076Thr) n.2312C>A n.79C>A c.3370C>A (p.Pro1124Thr) c.3367C>A (p.Pro1123Thr) c.2314C>A (p.Pro772Thr) c.3160C>A (p.Pro1054Thr) c.2680C>A (p.Pro894Thr) | |
| 12 | g.47977368G>A | CA479453832 | COL2A1 | c.3018C>T (p.Ser1006=) c.3225C>T (p.Ser1075=) n.2311C>T n.78C>T c.3369C>T (p.Ser1123=) c.3366C>T (p.Ser1122=) c.2313C>T (p.Ser771=) c.3159C>T (p.Ser1053=) c.2679C>T (p.Ser893=) | gnomAD v4 |
| 12 | g.47977368G>C | CA479453829 | COL2A1 | c.3018C>G (p.Ser1006=) c.3225C>G (p.Ser1075=) n.2311C>G n.78C>G c.3369C>G (p.Ser1123=) c.3366C>G (p.Ser1122=) c.2313C>G (p.Ser771=) c.3159C>G (p.Ser1053=) c.2679C>G (p.Ser893=) | |
| 12 | g.47977368G>T | CA479453831 | COL2A1 | c.3018C>A (p.Ser1006=) c.3225C>A (p.Ser1075=) n.2311C>A n.78C>A c.3369C>A (p.Ser1123=) c.3366C>A (p.Ser1122=) c.2313C>A (p.Ser771=) c.3159C>A (p.Ser1053=) c.2679C>A (p.Ser893=) | |
| 12 | g.47977369G>A | CA384540260 | COL2A1 | c.3017C>T (p.Ser1006Phe) c.3224C>T (p.Ser1075Phe) n.2310C>T n.77C>T c.3368C>T (p.Ser1123Phe) c.3365C>T (p.Ser1122Phe) c.2312C>T (p.Ser771Phe) c.3158C>T (p.Ser1053Phe) c.2678C>T (p.Ser893Phe) | COSMIC COSMIC |
| 12 | g.47977369G>C | CA384540262 | COL2A1 | c.3017C>G (p.Ser1006Cys) c.3224C>G (p.Ser1075Cys) n.2310C>G n.77C>G c.3368C>G (p.Ser1123Cys) c.3365C>G (p.Ser1122Cys) c.2312C>G (p.Ser771Cys) c.3158C>G (p.Ser1053Cys) c.2678C>G (p.Ser893Cys) | |
| 12 | g.47977369G= | CA2034476394 | COL2A1 | c.3017C= (p.Ser1006=) c.3224C= (p.Ser1075=) n.2310C= n.77C= c.3368C= (p.Ser1123=) c.3365C= (p.Ser1122=) c.2312C= (p.Ser771=) c.3158C= (p.Ser1053=) c.2678C= (p.Ser893=) | |
| 12 | g.47977369G>T | CA6534835 | COL2A1 | c.3017C>A (p.Ser1006Tyr) c.3224C>A (p.Ser1075Tyr) n.2310C>A n.77C>A c.3368C>A (p.Ser1123Tyr) c.3365C>A (p.Ser1122Tyr) c.2312C>A (p.Ser771Tyr) c.3158C>A (p.Ser1053Tyr) c.2678C>A (p.Ser893Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47977370A>C | CA384540264 | COL2A1 | c.3016T>G (p.Ser1006Ala) c.3223T>G (p.Ser1075Ala) n.2309T>G n.76T>G c.3367T>G (p.Ser1123Ala) c.3364T>G (p.Ser1122Ala) c.2311T>G (p.Ser771Ala) c.3157T>G (p.Ser1053Ala) c.2677T>G (p.Ser893Ala) | |
| 12 | g.47977370A>G | CA384540267 | COL2A1 | c.3016T>C (p.Ser1006Pro) c.3223T>C (p.Ser1075Pro) n.2309T>C n.76T>C c.3367T>C (p.Ser1123Pro) c.3364T>C (p.Ser1122Pro) c.2311T>C (p.Ser771Pro) c.3157T>C (p.Ser1053Pro) c.2677T>C (p.Ser893Pro) | |
| 12 | g.47977370A>T | CA384540270 | COL2A1 | c.3016T>A (p.Ser1006Thr) c.3223T>A (p.Ser1075Thr) n.2309T>A n.76T>A c.3367T>A (p.Ser1123Thr) c.3364T>A (p.Ser1122Thr) c.2311T>A (p.Ser771Thr) c.3157T>A (p.Ser1053Thr) c.2677T>A (p.Ser893Thr) | |
| 12 | g.47977371G>A | CA479453845 | COL2A1 | c.3015C>T (p.Gly1005=) c.3222C>T (p.Gly1074=) n.2308C>T n.75C>T c.3366C>T (p.Gly1122=) c.3363C>T (p.Gly1121=) c.2310C>T (p.Gly770=) c.3156C>T (p.Gly1052=) c.2676C>T (p.Gly892=) | gnomAD v4 |
| 12 | g.47977371G>C | CA6534836 | COL2A1 | c.3015C>G (p.Gly1005=) c.3222C>G (p.Gly1074=) n.2308C>G n.75C>G c.3366C>G (p.Gly1122=) c.3363C>G (p.Gly1121=) c.2310C>G (p.Gly770=) c.3156C>G (p.Gly1052=) c.2676C>G (p.Gly892=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977371G= | CA2034476395 | COL2A1 | c.3015C= (p.Gly1005=) c.3222C= (p.Gly1074=) n.2308C= n.75C= c.3366C= (p.Gly1122=) c.3363C= (p.Gly1121=) c.2310C= (p.Gly770=) c.3156C= (p.Gly1052=) c.2676C= (p.Gly892=) | |
| 12 | g.47977371G>T | CA479453842 | COL2A1 | c.3015C>A (p.Gly1005=) c.3222C>A (p.Gly1074=) n.2308C>A n.75C>A c.3366C>A (p.Gly1122=) c.3363C>A (p.Gly1121=) c.2310C>A (p.Gly770=) c.3156C>A (p.Gly1052=) c.2676C>A (p.Gly892=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47977372C>A | CA384540279 | COL2A1 | c.3014G>T (p.Gly1005Val) c.3221G>T (p.Gly1074Val) n.2307G>T n.74G>T c.3365G>T (p.Gly1122Val) c.3362G>T (p.Gly1121Val) c.2309G>T (p.Gly770Val) c.3155G>T (p.Gly1052Val) c.2675G>T (p.Gly892Val) | |
| 12 | g.47977372C>G | CA384540280 | COL2A1 | c.3014G>C (p.Gly1005Ala) c.3221G>C (p.Gly1074Ala) n.2307G>C n.74G>C c.3365G>C (p.Gly1122Ala) c.3362G>C (p.Gly1121Ala) c.2309G>C (p.Gly770Ala) c.3155G>C (p.Gly1052Ala) c.2675G>C (p.Gly892Ala) | |
| 12 | g.47977372C>T | CA384540281 | COL2A1 | c.3014G>A (p.Gly1005Asp) c.3221G>A (p.Gly1074Asp) n.2307G>A n.74G>A c.3365G>A (p.Gly1122Asp) c.3362G>A (p.Gly1121Asp) c.2309G>A (p.Gly770Asp) c.3155G>A (p.Gly1052Asp) c.2675G>A (p.Gly892Asp) | |
| 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) |