UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977355C>A | CA384540188 | COL2A1 | c.3031G>T (p.Gly1011Cys) c.3238G>T (p.Gly1080Cys) n.2324G>T n.91G>T c.3382G>T (p.Gly1128Cys) c.3379G>T (p.Gly1127Cys) c.2326G>T (p.Gly776Cys) c.3172G>T (p.Gly1058Cys) c.2692G>T (p.Gly898Cys) | |
| 12 | g.47977355C>G | CA384540190 | COL2A1 | c.3031G>C (p.Gly1011Arg) c.3238G>C (p.Gly1080Arg) n.2324G>C n.91G>C c.3382G>C (p.Gly1128Arg) c.3379G>C (p.Gly1127Arg) c.2326G>C (p.Gly776Arg) c.3172G>C (p.Gly1058Arg) c.2692G>C (p.Gly898Arg) | ClinVar |
| 12 | g.47977355C>T | CA384540192 | COL2A1 | c.3031G>A (p.Gly1011Ser) c.3238G>A (p.Gly1080Ser) n.2324G>A n.91G>A c.3382G>A (p.Gly1128Ser) c.3379G>A (p.Gly1127Ser) c.2326G>A (p.Gly776Ser) c.3172G>A (p.Gly1058Ser) c.2692G>A (p.Gly898Ser) | ClinVar |
| 12 | g.47977356A>C | CA479453780 | COL2A1 | c.3030T>G (p.Ala1010=) c.3237T>G (p.Ala1079=) n.2323T>G n.90T>G c.3381T>G (p.Ala1127=) c.3378T>G (p.Ala1126=) c.2325T>G (p.Ala775=) c.3171T>G (p.Ala1057=) c.2691T>G (p.Ala897=) | ClinVar dbSNP |
| 12 | g.47977356A>G | CA479453782 | COL2A1 | c.3030T>C (p.Ala1010=) c.3237T>C (p.Ala1079=) n.2323T>C n.90T>C c.3381T>C (p.Ala1127=) c.3378T>C (p.Ala1126=) c.2325T>C (p.Ala775=) c.3171T>C (p.Ala1057=) c.2691T>C (p.Ala897=) | ClinVar gnomAD v4 |
| 12 | g.47977356A>T | CA479453783 | COL2A1 | c.3030T>A (p.Ala1010=) c.3237T>A (p.Ala1079=) n.2323T>A n.90T>A c.3381T>A (p.Ala1127=) c.3378T>A (p.Ala1126=) c.2325T>A (p.Ala775=) c.3171T>A (p.Ala1057=) c.2691T>A (p.Ala897=) | |
| 12 | g.47977357G>A | CA384540195 | COL2A1 | c.3029C>T (p.Ala1010Val) c.3236C>T (p.Ala1079Val) n.2322C>T n.89C>T c.3380C>T (p.Ala1127Val) c.3377C>T (p.Ala1126Val) c.2324C>T (p.Ala775Val) c.3170C>T (p.Ala1057Val) c.2690C>T (p.Ala897Val) | |
| 12 | g.47977357G>C | CA384540197 | COL2A1 | c.3029C>G (p.Ala1010Gly) c.3236C>G (p.Ala1079Gly) n.2322C>G n.89C>G c.3380C>G (p.Ala1127Gly) c.3377C>G (p.Ala1126Gly) c.2324C>G (p.Ala775Gly) c.3170C>G (p.Ala1057Gly) c.2690C>G (p.Ala897Gly) | |
| 12 | g.47977357G>T | CA384540201 | COL2A1 | c.3029C>A (p.Ala1010Asp) c.3236C>A (p.Ala1079Asp) n.2322C>A n.89C>A c.3380C>A (p.Ala1127Asp) c.3377C>A (p.Ala1126Asp) c.2324C>A (p.Ala775Asp) c.3170C>A (p.Ala1057Asp) c.2690C>A (p.Ala897Asp) | gnomAD v4 |
| 12 | g.47977358C>A | CA384540204 | COL2A1 | c.3028G>T (p.Ala1010Ser) c.3235G>T (p.Ala1079Ser) n.2321G>T n.88G>T c.3379G>T (p.Ala1127Ser) c.3376G>T (p.Ala1126Ser) c.2323G>T (p.Ala775Ser) c.3169G>T (p.Ala1057Ser) c.2689G>T (p.Ala897Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977358C= | CA2034476387 | COL2A1 | c.3028G= (p.Ala1010=) c.3235G= (p.Ala1079=) n.2321G= n.88G= c.3379G= (p.Ala1127=) c.3376G= (p.Ala1126=) c.2323G= (p.Ala775=) c.3169G= (p.Ala1057=) c.2689G= (p.Ala897=) | |
| 12 | g.47977358C>G | CA384540206 | COL2A1 | c.3028G>C (p.Ala1010Pro) c.3235G>C (p.Ala1079Pro) n.2321G>C n.88G>C c.3379G>C (p.Ala1127Pro) c.3376G>C (p.Ala1126Pro) c.2323G>C (p.Ala775Pro) c.3169G>C (p.Ala1057Pro) c.2689G>C (p.Ala897Pro) | |
| 12 | g.47977358C>T | CA6534831 | COL2A1 | c.3028G>A (p.Ala1010Thr) c.3235G>A (p.Ala1079Thr) n.2321G>A n.88G>A c.3379G>A (p.Ala1127Thr) c.3376G>A (p.Ala1126Thr) c.2323G>A (p.Ala775Thr) c.3169G>A (p.Ala1057Thr) c.2689G>A (p.Ala897Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977359G>A | CA6534832 | COL2A1 | c.3027C>T (p.Pro1009=) c.3234C>T (p.Pro1078=) n.2320C>T n.87C>T c.3378C>T (p.Pro1126=) c.3375C>T (p.Pro1125=) c.2322C>T (p.Pro774=) c.3168C>T (p.Pro1056=) c.2688C>T (p.Pro896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977359G>C | CA479453792 | COL2A1 | c.3027C>G (p.Pro1009=) c.3234C>G (p.Pro1078=) n.2320C>G n.87C>G c.3378C>G (p.Pro1126=) c.3375C>G (p.Pro1125=) c.2322C>G (p.Pro774=) c.3168C>G (p.Pro1056=) c.2688C>G (p.Pro896=) | |
| 12 | g.47977359G= | CA2034476388 | COL2A1 | c.3027C= (p.Pro1009=) c.3234C= (p.Pro1078=) n.2320C= n.87C= c.3378C= (p.Pro1126=) c.3375C= (p.Pro1125=) c.2322C= (p.Pro774=) c.3168C= (p.Pro1056=) c.2688C= (p.Pro896=) | |
| 12 | g.47977359G>T | CA479453794 | COL2A1 | c.3027C>A (p.Pro1009=) c.3234C>A (p.Pro1078=) n.2320C>A n.87C>A c.3378C>A (p.Pro1126=) c.3375C>A (p.Pro1125=) c.2322C>A (p.Pro774=) c.3168C>A (p.Pro1056=) c.2688C>A (p.Pro896=) | |
| 12 | g.47977362dup | CA2573148618 | COL2A1 | c.3027dup (p.Ala1010ArgfsTer?) c.3234dup (p.Ala1079ArgfsTer?) n.2320dup n.87dup c.3378dup (p.Ala1127ArgfsTer?) c.3375dup (p.Ala1126ArgfsTer?) c.2322dup (p.Ala775ArgfsTer?) c.3168dup (p.Ala1057ArgfsTer?) c.2688dup (p.Ala897ArgfsTer?) | ClinVar dbSNP |
| 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.47977360G>A | CA384540211 | COL2A1 | c.3026C>T (p.Pro1009Leu) c.3233C>T (p.Pro1078Leu) n.2319C>T n.86C>T c.3377C>T (p.Pro1126Leu) c.3374C>T (p.Pro1125Leu) c.2321C>T (p.Pro774Leu) c.3167C>T (p.Pro1056Leu) c.2687C>T (p.Pro896Leu) | COSMIC COSMIC |
| 12 | g.47977360G>C | CA384540209 | COL2A1 | c.3026C>G (p.Pro1009Arg) c.3233C>G (p.Pro1078Arg) n.2319C>G n.86C>G c.3377C>G (p.Pro1126Arg) c.3374C>G (p.Pro1125Arg) c.2321C>G (p.Pro774Arg) c.3167C>G (p.Pro1056Arg) c.2687C>G (p.Pro896Arg) | |
| 12 | g.47977360G>T | CA384540216 | COL2A1 | c.3026C>A (p.Pro1009His) c.3233C>A (p.Pro1078His) n.2319C>A n.86C>A c.3377C>A (p.Pro1126His) c.3374C>A (p.Pro1125His) c.2321C>A (p.Pro774His) c.3167C>A (p.Pro1056His) c.2687C>A (p.Pro896His) | |
| 12 | g.47977361G>A | CA384540218 | COL2A1 | c.3025C>T (p.Pro1009Ser) c.3232C>T (p.Pro1078Ser) n.2318C>T n.85C>T c.3376C>T (p.Pro1126Ser) c.3373C>T (p.Pro1125Ser) c.2320C>T (p.Pro774Ser) c.3166C>T (p.Pro1056Ser) c.2686C>T (p.Pro896Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977361G>C | CA384540219 | COL2A1 | c.3025C>G (p.Pro1009Ala) c.3232C>G (p.Pro1078Ala) n.2318C>G n.85C>G c.3376C>G (p.Pro1126Ala) c.3373C>G (p.Pro1125Ala) c.2320C>G (p.Pro774Ala) c.3166C>G (p.Pro1056Ala) c.2686C>G (p.Pro896Ala) | |
| 12 | g.47977361G= | CA2034476389 | COL2A1 | c.3025C= (p.Pro1009=) c.3232C= (p.Pro1078=) n.2318C= n.85C= c.3376C= (p.Pro1126=) c.3373C= (p.Pro1125=) c.2320C= (p.Pro774=) c.3166C= (p.Pro1056=) c.2686C= (p.Pro896=) | |
| 12 | g.47977361G>T | CA384540221 | COL2A1 | c.3025C>A (p.Pro1009Thr) c.3232C>A (p.Pro1078Thr) n.2318C>A n.85C>A c.3376C>A (p.Pro1126Thr) c.3373C>A (p.Pro1125Thr) c.2320C>A (p.Pro774Thr) c.3166C>A (p.Pro1056Thr) c.2686C>A (p.Pro896Thr) | |
| 12 | g.47977362G>A | CA479453805 | COL2A1 | c.3024C>T (p.Gly1008=) c.3231C>T (p.Gly1077=) n.2317C>T n.84C>T c.3375C>T (p.Gly1125=) c.3372C>T (p.Gly1124=) c.2319C>T (p.Gly773=) c.3165C>T (p.Gly1055=) c.2685C>T (p.Gly895=) | dbSNP gnomAD v2 |
| 12 | g.47977362G>C | CA479453806 | COL2A1 | c.3024C>G (p.Gly1008=) c.3231C>G (p.Gly1077=) n.2317C>G n.84C>G c.3375C>G (p.Gly1125=) c.3372C>G (p.Gly1124=) c.2319C>G (p.Gly773=) c.3165C>G (p.Gly1055=) c.2685C>G (p.Gly895=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977362G= | CA2034476390 | COL2A1 | c.3024C= (p.Gly1008=) c.3231C= (p.Gly1077=) n.2317C= n.84C= c.3375C= (p.Gly1125=) c.3372C= (p.Gly1124=) c.2319C= (p.Gly773=) c.3165C= (p.Gly1055=) c.2685C= (p.Gly895=) | |
| 12 | g.47977362G>T | CA479453808 | COL2A1 | c.3024C>A (p.Gly1008=) c.3231C>A (p.Gly1077=) n.2317C>A n.84C>A c.3375C>A (p.Gly1125=) c.3372C>A (p.Gly1124=) c.2319C>A (p.Gly773=) c.3165C>A (p.Gly1055=) c.2685C>A (p.Gly895=) | |
| 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) | |
| 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.47977379dup | CA2795864044 | COL2A1 | c.3011dup (p.Gly1005TrpfsTer?) c.3218dup (p.Gly1074TrpfsTer?) n.2304dup n.71dup c.3362dup (p.Gly1122TrpfsTer?) c.3359dup (p.Gly1121TrpfsTer?) c.2306dup (p.Gly770TrpfsTer?) c.3152dup (p.Gly1052TrpfsTer?) c.2672dup (p.Gly892TrpfsTer?) | |
| 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.47977379_47977380del | CA2795864053 | COL2A1 | c.3006_3007del (p.Pro1004TrpfsTer?) c.3213_3214del (p.Pro1073TrpfsTer?) n.2299_2300del n.66_67del c.3357_3358del (p.Pro1121TrpfsTer?) c.3354_3355del (p.Pro1120TrpfsTer?) c.2301_2302del (p.Pro769TrpfsTer?) c.3147_3148del (p.Pro1051TrpfsTer?) c.2667_2668del (p.Pro891TrpfsTer?) | |
| 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) | |
| 12 | g.47977385G>T | CA384540350 | COL2A1 | c.3001C>A (p.Pro1001Thr) c.3208C>A (p.Pro1070Thr) n.2294C>A n.61C>A c.3352C>A (p.Pro1118Thr) c.3349C>A (p.Pro1117Thr) c.2296C>A (p.Pro766Thr) c.3142C>A (p.Pro1048Thr) c.2662C>A (p.Pro888Thr) | |
| 12 | g.47977386G>A | CA479453918 | COL2A1 | c.3000C>T (p.Ala1000=) c.3207C>T (p.Ala1069=) n.2293C>T n.60C>T c.3351C>T (p.Ala1117=) c.3348C>T (p.Ala1116=) c.2295C>T (p.Ala765=) c.3141C>T (p.Ala1047=) c.2661C>T (p.Ala887=) | |
| 12 | g.47977386G>C | CA6534838 | COL2A1 | c.3000C>G (p.Ala1000=) c.3207C>G (p.Ala1069=) n.2293C>G n.60C>G c.3351C>G (p.Ala1117=) c.3348C>G (p.Ala1116=) c.2295C>G (p.Ala765=) c.3141C>G (p.Ala1047=) c.2661C>G (p.Ala887=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977386G= | CA2034476402 | COL2A1 | c.3000C= (p.Ala1000=) c.3207C= (p.Ala1069=) n.2293C= n.60C= c.3351C= (p.Ala1117=) c.3348C= (p.Ala1116=) c.2295C= (p.Ala765=) c.3141C= (p.Ala1047=) c.2661C= (p.Ala887=) | |
| 12 | g.47977386G>T | CA479453921 | COL2A1 | c.3000C>A (p.Ala1000=) c.3207C>A (p.Ala1069=) n.2293C>A n.60C>A c.3351C>A (p.Ala1117=) c.3348C>A (p.Ala1116=) c.2295C>A (p.Ala765=) c.3141C>A (p.Ala1047=) c.2661C>A (p.Ala887=) | gnomAD v4 |
| 12 | g.47977387G>A | CA236520989 | COL2A1 | c.2999C>T (p.Ala1000Val) c.3206C>T (p.Ala1069Val) n.2292C>T n.59C>T c.3350C>T (p.Ala1117Val) c.3347C>T (p.Ala1116Val) c.2294C>T (p.Ala765Val) c.3140C>T (p.Ala1047Val) c.2660C>T (p.Ala887Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977387G>C | CA384540358 | COL2A1 | c.2999C>G (p.Ala1000Gly) c.3206C>G (p.Ala1069Gly) n.2292C>G n.59C>G c.3350C>G (p.Ala1117Gly) c.3347C>G (p.Ala1116Gly) c.2294C>G (p.Ala765Gly) c.3140C>G (p.Ala1047Gly) c.2660C>G (p.Ala887Gly) | |
| 12 | g.47977387G= | CA2034476403 | COL2A1 | c.2999C= (p.Ala1000=) c.3206C= (p.Ala1069=) n.2292C= n.59C= c.3350C= (p.Ala1117=) c.3347C= (p.Ala1116=) c.2294C= (p.Ala765=) c.3140C= (p.Ala1047=) c.2660C= (p.Ala887=) | |
| 12 | g.47977387G>T | CA6534839 | COL2A1 | c.2999C>A (p.Ala1000Asp) c.3206C>A (p.Ala1069Asp) n.2292C>A n.59C>A c.3350C>A (p.Ala1117Asp) c.3347C>A (p.Ala1116Asp) c.2294C>A (p.Ala765Asp) c.3140C>A (p.Ala1047Asp) c.2660C>A (p.Ala887Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977392_47977400del | CA2695216639 | COL2A1 | c.2991_2999del (p.Pro998_Ala1000del) c.3198_3206del (p.Pro1067_Ala1069del) n.2284_2292del n.51_59del c.3342_3350del (p.Pro1115_Ala1117del) c.3339_3347del (p.Pro1114_Ala1116del) c.2286_2294del (p.Pro763_Ala765del) c.3132_3140del (p.Pro1045_Ala1047del) c.2652_2660del (p.Pro885_Ala887del) | |
| 12 | g.47977388C>A | CA384540363 | COL2A1 | c.2998G>T (p.Ala1000Ser) c.3205G>T (p.Ala1069Ser) n.2291G>T n.58G>T c.3349G>T (p.Ala1117Ser) c.3346G>T (p.Ala1116Ser) c.2293G>T (p.Ala765Ser) c.3139G>T (p.Ala1047Ser) c.2659G>T (p.Ala887Ser) | |
| 12 | g.47977388C= | CA2034476404 | COL2A1 | c.2998G= (p.Ala1000=) c.3205G= (p.Ala1069=) n.2291G= n.58G= c.3349G= (p.Ala1117=) c.3346G= (p.Ala1116=) c.2293G= (p.Ala765=) c.3139G= (p.Ala1047=) c.2659G= (p.Ala887=) | |
| 12 | g.47977388C>G | CA6534840 | COL2A1 | c.2998G>C (p.Ala1000Pro) c.3205G>C (p.Ala1069Pro) n.2291G>C n.58G>C c.3349G>C (p.Ala1117Pro) c.3346G>C (p.Ala1116Pro) c.2293G>C (p.Ala765Pro) c.3139G>C (p.Ala1047Pro) c.2659G>C (p.Ala887Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977388C>T | CA6534841 | COL2A1 | c.2998G>A (p.Ala1000Thr) c.3205G>A (p.Ala1069Thr) n.2291G>A n.58G>A c.3349G>A (p.Ala1117Thr) c.3346G>A (p.Ala1116Thr) c.2293G>A (p.Ala765Thr) c.3139G>A (p.Ala1047Thr) c.2659G>A (p.Ala887Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.47977389T>A | CA479453933 | COL2A1 | c.2997A>T (p.Gly999=) c.3204A>T (p.Gly1068=) n.2290A>T n.57A>T c.3348A>T (p.Gly1116=) c.3345A>T (p.Gly1115=) c.2292A>T (p.Gly764=) c.3138A>T (p.Gly1046=) c.2658A>T (p.Gly886=) | |
| 12 | g.47977389T>C | CA479453936 | COL2A1 | c.2997A>G (p.Gly999=) c.3204A>G (p.Gly1068=) n.2290A>G n.57A>G c.3348A>G (p.Gly1116=) c.3345A>G (p.Gly1115=) c.2292A>G (p.Gly764=) c.3138A>G (p.Gly1046=) c.2658A>G (p.Gly886=) | |
| 12 | g.47977389T>G | CA479453938 | COL2A1 | c.2997A>C (p.Gly999=) c.3204A>C (p.Gly1068=) n.2290A>C n.57A>C c.3348A>C (p.Gly1116=) c.3345A>C (p.Gly1115=) c.2292A>C (p.Gly764=) c.3138A>C (p.Gly1046=) c.2658A>C (p.Gly886=) | |
| 12 | g.47977390C>A | CA384540375 | COL2A1 | c.2996G>T (p.Gly999Val) c.3203G>T (p.Gly1068Val) n.2289G>T n.56G>T c.3347G>T (p.Gly1116Val) c.3344G>T (p.Gly1115Val) c.2291G>T (p.Gly764Val) c.3137G>T (p.Gly1046Val) c.2657G>T (p.Gly886Val) | |
| 12 | g.47977390C= | CA2034476405 | COL2A1 | c.2996G= (p.Gly999=) c.3203G= (p.Gly1068=) n.2289G= n.56G= c.3347G= (p.Gly1116=) c.3344G= (p.Gly1115=) c.2291G= (p.Gly764=) c.3137G= (p.Gly1046=) c.2657G= (p.Gly886=) | |
| 12 | g.47977390C>G | CA384540376 | COL2A1 | c.2996G>C (p.Gly999Ala) c.3203G>C (p.Gly1068Ala) n.2289G>C n.56G>C c.3347G>C (p.Gly1116Ala) c.3344G>C (p.Gly1115Ala) c.2291G>C (p.Gly764Ala) c.3137G>C (p.Gly1046Ala) c.2657G>C (p.Gly886Ala) | |
| 12 | g.47977390C>T | CA384540378 | COL2A1 | c.2996G>A (p.Gly999Glu) c.3203G>A (p.Gly1068Glu) n.2289G>A n.56G>A c.3347G>A (p.Gly1116Glu) c.3344G>A (p.Gly1115Glu) c.2291G>A (p.Gly764Glu) c.3137G>A (p.Gly1046Glu) c.2657G>A (p.Gly886Glu) | ClinVar dbSNP |
| 12 | g.47977391C>A | CA384540381 | COL2A1 | c.2995G>T (p.Gly999Ter) c.3202G>T (p.Gly1068Ter) n.2288G>T n.55G>T c.3346G>T (p.Gly1116Ter) c.3343G>T (p.Gly1115Ter) c.2290G>T (p.Gly764Ter) c.3136G>T (p.Gly1046Ter) c.2656G>T (p.Gly886Ter) | |
| 12 | g.47977391C>G | CA384540386 | COL2A1 | c.2995G>C (p.Gly999Arg) c.3202G>C (p.Gly1068Arg) n.2288G>C n.55G>C c.3346G>C (p.Gly1116Arg) c.3343G>C (p.Gly1115Arg) c.2290G>C (p.Gly764Arg) c.3136G>C (p.Gly1046Arg) c.2656G>C (p.Gly886Arg) | |
| 12 | g.47977391C>T | CA384540384 | COL2A1 | c.2995G>A (p.Gly999Arg) c.3202G>A (p.Gly1068Arg) n.2288G>A n.55G>A c.3346G>A (p.Gly1116Arg) c.3343G>A (p.Gly1115Arg) c.2290G>A (p.Gly764Arg) c.3136G>A (p.Gly1046Arg) c.2656G>A (p.Gly886Arg) | COSMIC COSMIC |
| 12 | g.47977392A= | CA2034476406 | COL2A1 | c.2994T= (p.Pro998=) c.3201T= (p.Pro1067=) n.2287T= n.54T= c.3345T= (p.Pro1115=) c.3342T= (p.Pro1114=) c.2289T= (p.Pro763=) c.3135T= (p.Pro1045=) c.2655T= (p.Pro885=) | |
| 12 | g.47977392A>C | CA479453948 | COL2A1 | c.2994T>G (p.Pro998=) c.3201T>G (p.Pro1067=) n.2287T>G n.54T>G c.3345T>G (p.Pro1115=) c.3342T>G (p.Pro1114=) c.2289T>G (p.Pro763=) c.3135T>G (p.Pro1045=) c.2655T>G (p.Pro885=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977392A>G | CA479453951 | COL2A1 | c.2994T>C (p.Pro998=) c.3201T>C (p.Pro1067=) n.2287T>C n.54T>C c.3345T>C (p.Pro1115=) c.3342T>C (p.Pro1114=) c.2289T>C (p.Pro763=) c.3135T>C (p.Pro1045=) c.2655T>C (p.Pro885=) | |
| 12 | g.47977392A>T | CA479453953 | COL2A1 | c.2994T>A (p.Pro998=) c.3201T>A (p.Pro1067=) n.2287T>A n.54T>A c.3345T>A (p.Pro1115=) c.3342T>A (p.Pro1114=) c.2289T>A (p.Pro763=) c.3135T>A (p.Pro1045=) c.2655T>A (p.Pro885=) | |
| 12 | g.47977393G>A | CA384540388 | COL2A1 | c.2993C>T (p.Pro998Leu) c.3200C>T (p.Pro1067Leu) n.2286C>T n.53C>T c.3344C>T (p.Pro1115Leu) c.3341C>T (p.Pro1114Leu) c.2288C>T (p.Pro763Leu) c.3134C>T (p.Pro1045Leu) c.2654C>T (p.Pro885Leu) | gnomAD v4 |
| 12 | g.47977393G>C | CA384540392 | COL2A1 | c.2993C>G (p.Pro998Arg) c.3200C>G (p.Pro1067Arg) n.2286C>G n.53C>G c.3344C>G (p.Pro1115Arg) c.3341C>G (p.Pro1114Arg) c.2288C>G (p.Pro763Arg) c.3134C>G (p.Pro1045Arg) c.2654C>G (p.Pro885Arg) | |
| 12 | g.47977393G>T | CA384540389 | COL2A1 | c.2993C>A (p.Pro998His) c.3200C>A (p.Pro1067His) n.2286C>A n.53C>A c.3344C>A (p.Pro1115His) c.3341C>A (p.Pro1114His) c.2288C>A (p.Pro763His) c.3134C>A (p.Pro1045His) c.2654C>A (p.Pro885His) | |
| 12 | g.47977394G>A | CA384540394 | COL2A1 | c.2992C>T (p.Pro998Ser) c.3199C>T (p.Pro1067Ser) n.2285C>T n.52C>T c.3343C>T (p.Pro1115Ser) c.3340C>T (p.Pro1114Ser) c.2287C>T (p.Pro763Ser) c.3133C>T (p.Pro1045Ser) c.2653C>T (p.Pro885Ser) | gnomAD v4 |
| 12 | g.47977394G>C | CA384540395 | COL2A1 | c.2992C>G (p.Pro998Ala) c.3199C>G (p.Pro1067Ala) n.2285C>G n.52C>G c.3343C>G (p.Pro1115Ala) c.3340C>G (p.Pro1114Ala) c.2287C>G (p.Pro763Ala) c.3133C>G (p.Pro1045Ala) c.2653C>G (p.Pro885Ala) | |
| 12 | g.47977394G>T | CA384540396 | COL2A1 | c.2992C>A (p.Pro998Thr) c.3199C>A (p.Pro1067Thr) n.2285C>A n.52C>A c.3343C>A (p.Pro1115Thr) c.3340C>A (p.Pro1114Thr) c.2287C>A (p.Pro763Thr) c.3133C>A (p.Pro1045Thr) c.2653C>A (p.Pro885Thr) | |
| 12 | g.47977395A>C | CA479453966 | COL2A1 | c.2991T>G (p.Ala997=) c.3198T>G (p.Ala1066=) n.2284T>G n.51T>G c.3342T>G (p.Ala1114=) c.3339T>G (p.Ala1113=) c.2286T>G (p.Ala762=) c.3132T>G (p.Ala1044=) c.2652T>G (p.Ala884=) | |
| 12 | g.47977395A>G | CA479453964 | COL2A1 | c.2991T>C (p.Ala997=) c.3198T>C (p.Ala1066=) n.2284T>C n.51T>C c.3342T>C (p.Ala1114=) c.3339T>C (p.Ala1113=) c.2286T>C (p.Ala762=) c.3132T>C (p.Ala1044=) c.2652T>C (p.Ala884=) | gnomAD v4 |
| 12 | g.47977395A>T | CA479453962 | COL2A1 | c.2991T>A (p.Ala997=) c.3198T>A (p.Ala1066=) n.2284T>A n.51T>A c.3342T>A (p.Ala1114=) c.3339T>A (p.Ala1113=) c.2286T>A (p.Ala762=) c.3132T>A (p.Ala1044=) c.2652T>A (p.Ala884=) | |
| 12 | g.47977396G>A | CA384540397 | COL2A1 | c.2990C>T (p.Ala997Val) c.3197C>T (p.Ala1066Val) n.2283C>T n.50C>T c.3341C>T (p.Ala1114Val) c.3338C>T (p.Ala1113Val) c.2285C>T (p.Ala762Val) c.3131C>T (p.Ala1044Val) c.2651C>T (p.Ala884Val) | |
| 12 | g.47977396G>C | CA384540399 | COL2A1 | c.2990C>G (p.Ala997Gly) c.3197C>G (p.Ala1066Gly) n.2283C>G n.50C>G c.3341C>G (p.Ala1114Gly) c.3338C>G (p.Ala1113Gly) c.2285C>G (p.Ala762Gly) c.3131C>G (p.Ala1044Gly) c.2651C>G (p.Ala884Gly) | |
| 12 | g.47977396G>T | CA384540401 | COL2A1 | c.2990C>A (p.Ala997Asp) c.3197C>A (p.Ala1066Asp) n.2283C>A n.50C>A c.3341C>A (p.Ala1114Asp) c.3338C>A (p.Ala1113Asp) c.2285C>A (p.Ala762Asp) c.3131C>A (p.Ala1044Asp) c.2651C>A (p.Ala884Asp) | |
| 12 | g.47977397C>A | CA384540403 | COL2A1 | c.2989G>T (p.Ala997Ser) c.3196G>T (p.Ala1066Ser) n.2282G>T n.49G>T c.3340G>T (p.Ala1114Ser) c.3337G>T (p.Ala1113Ser) c.2284G>T (p.Ala762Ser) c.3130G>T (p.Ala1044Ser) c.2650G>T (p.Ala884Ser) | |
| 12 | g.47977397C>G | CA384540405 | COL2A1 | c.2989G>C (p.Ala997Pro) c.3196G>C (p.Ala1066Pro) n.2282G>C n.49G>C c.3340G>C (p.Ala1114Pro) c.3337G>C (p.Ala1113Pro) c.2284G>C (p.Ala762Pro) c.3130G>C (p.Ala1044Pro) c.2650G>C (p.Ala884Pro) | |
| 12 | g.47977397C>T | CA384540407 | COL2A1 | c.2989G>A (p.Ala997Thr) c.3196G>A (p.Ala1066Thr) n.2282G>A n.49G>A c.3340G>A (p.Ala1114Thr) c.3337G>A (p.Ala1113Thr) c.2284G>A (p.Ala762Thr) c.3130G>A (p.Ala1044Thr) c.2650G>A (p.Ala884Thr) | |
| 12 | g.47977398T>A | CA479453975 | COL2A1 | c.2988A>T (p.Gly996=) c.3195A>T (p.Gly1065=) n.2281A>T n.48A>T c.3339A>T (p.Gly1113=) c.3336A>T (p.Gly1112=) c.2283A>T (p.Gly761=) c.3129A>T (p.Gly1043=) c.2649A>T (p.Gly883=) | |
| 12 | g.47977398T>C | CA479453976 | COL2A1 | c.2988A>G (p.Gly996=) c.3195A>G (p.Gly1065=) n.2281A>G n.48A>G c.3339A>G (p.Gly1113=) c.3336A>G (p.Gly1112=) c.2283A>G (p.Gly761=) c.3129A>G (p.Gly1043=) c.2649A>G (p.Gly883=) | |
| 12 | g.47977398T>G | CA479453980 | COL2A1 | c.2988A>C (p.Gly996=) c.3195A>C (p.Gly1065=) n.2281A>C n.48A>C c.3339A>C (p.Gly1113=) c.3336A>C (p.Gly1112=) c.2283A>C (p.Gly761=) c.3129A>C (p.Gly1043=) c.2649A>C (p.Gly883=) | |
| 12 | g.47977399C>A | CA384540409 | COL2A1 | c.2987G>T (p.Gly996Val) c.3194G>T (p.Gly1065Val) n.2280G>T n.47G>T c.3338G>T (p.Gly1113Val) c.3335G>T (p.Gly1112Val) c.2282G>T (p.Gly761Val) c.3128G>T (p.Gly1043Val) c.2648G>T (p.Gly883Val) | |
| 12 | g.47977399C>G | CA384540414 | COL2A1 | c.2987G>C (p.Gly996Ala) c.3194G>C (p.Gly1065Ala) n.2280G>C n.47G>C c.3338G>C (p.Gly1113Ala) c.3335G>C (p.Gly1112Ala) c.2282G>C (p.Gly761Ala) c.3128G>C (p.Gly1043Ala) c.2648G>C (p.Gly883Ala) | |
| 12 | g.47977399C>T | CA384540416 | COL2A1 | c.2987G>A (p.Gly996Glu) c.3194G>A (p.Gly1065Glu) n.2280G>A n.47G>A c.3338G>A (p.Gly1113Glu) c.3335G>A (p.Gly1112Glu) c.2282G>A (p.Gly761Glu) c.3128G>A (p.Gly1043Glu) c.2648G>A (p.Gly883Glu) | ClinVar |
| 12 | g.47977400C>A | CA384540417 | COL2A1 | c.2986G>T (p.Gly996Ter) c.3193G>T (p.Gly1065Ter) n.2279G>T n.46G>T c.3337G>T (p.Gly1113Ter) c.3334G>T (p.Gly1112Ter) c.2281G>T (p.Gly761Ter) c.3127G>T (p.Gly1043Ter) c.2647G>T (p.Gly883Ter) | |
| 12 | g.47977400C>G | CA384540420 | COL2A1 | c.2986G>C (p.Gly996Arg) c.3193G>C (p.Gly1065Arg) n.2279G>C n.46G>C c.3337G>C (p.Gly1113Arg) c.3334G>C (p.Gly1112Arg) c.2281G>C (p.Gly761Arg) c.3127G>C (p.Gly1043Arg) c.2647G>C (p.Gly883Arg) | gnomAD v4 |
| 12 | g.47977400C>T | CA384540419 | COL2A1 | c.2986G>A (p.Gly996Arg) c.3193G>A (p.Gly1065Arg) n.2279G>A n.46G>A c.3337G>A (p.Gly1113Arg) c.3334G>A (p.Gly1112Arg) c.2281G>A (p.Gly761Arg) c.3127G>A (p.Gly1043Arg) c.2647G>A (p.Gly883Arg) | |
| 12 | g.47977401C>A | CA479453993 | COL2A1 | c.2985G>T (p.Val995=) c.3192G>T (p.Val1064=) n.2278G>T n.45G>T c.3336G>T (p.Val1112=) c.3333G>T (p.Val1111=) c.2280G>T (p.Val760=) c.3126G>T (p.Val1042=) c.2646G>T (p.Val882=) | |
| 12 | g.47977401C>G | CA479453998 | COL2A1 | c.2985G>C (p.Val995=) c.3192G>C (p.Val1064=) n.2278G>C n.45G>C c.3336G>C (p.Val1112=) c.3333G>C (p.Val1111=) c.2280G>C (p.Val760=) c.3126G>C (p.Val1042=) c.2646G>C (p.Val882=) | |
| 12 | g.47977401C>T | CA479453996 | COL2A1 | c.2985G>A (p.Val995=) c.3192G>A (p.Val1064=) n.2278G>A n.45G>A c.3336G>A (p.Val1112=) c.3333G>A (p.Val1111=) c.2280G>A (p.Val760=) c.3126G>A (p.Val1042=) c.2646G>A (p.Val882=) | |
| 12 | g.47977402A>C | CA384540422 | COL2A1 | c.2984T>G (p.Val995Gly) c.3191T>G (p.Val1064Gly) n.2277T>G n.44T>G c.3335T>G (p.Val1112Gly) c.3332T>G (p.Val1111Gly) c.2279T>G (p.Val760Gly) c.3125T>G (p.Val1042Gly) c.2645T>G (p.Val882Gly) | |
| 12 | g.47977402A>G | CA384540424 | COL2A1 | c.2984T>C (p.Val995Ala) c.3191T>C (p.Val1064Ala) n.2277T>C n.44T>C c.3335T>C (p.Val1112Ala) c.3332T>C (p.Val1111Ala) c.2279T>C (p.Val760Ala) c.3125T>C (p.Val1042Ala) c.2645T>C (p.Val882Ala) | COSMIC COSMIC |
| 12 | g.47977402A>T | CA384540425 | COL2A1 | c.2984T>A (p.Val995Glu) c.3191T>A (p.Val1064Glu) n.2277T>A n.44T>A c.3335T>A (p.Val1112Glu) c.3332T>A (p.Val1111Glu) c.2279T>A (p.Val760Glu) c.3125T>A (p.Val1042Glu) c.2645T>A (p.Val882Glu) | COSMIC COSMIC |
| 12 | g.47977403C>A | CA384540427 | COL2A1 | c.2983G>T (p.Val995Leu) c.3190G>T (p.Val1064Leu) n.2276G>T n.43G>T c.3334G>T (p.Val1112Leu) c.3331G>T (p.Val1111Leu) c.2278G>T (p.Val760Leu) c.3124G>T (p.Val1042Leu) c.2644G>T (p.Val882Leu) | ClinVar COSMIC COSMIC |
| 12 | g.47977403C= | CA2034476407 | COL2A1 | c.2983G= (p.Val995=) c.3190G= (p.Val1064=) n.2276G= n.43G= c.3334G= (p.Val1112=) c.3331G= (p.Val1111=) c.2278G= (p.Val760=) c.3124G= (p.Val1042=) c.2644G= (p.Val882=) | |
| 12 | g.47977403C>G | CA384540429 | COL2A1 | c.2983G>C (p.Val995Leu) c.3190G>C (p.Val1064Leu) n.2276G>C n.43G>C c.3334G>C (p.Val1112Leu) c.3331G>C (p.Val1111Leu) c.2278G>C (p.Val760Leu) c.3124G>C (p.Val1042Leu) c.2644G>C (p.Val882Leu) | gnomAD v4 |
| 12 | g.47977403C>T | CA6534842 | COL2A1 | c.2983G>A (p.Val995Met) c.3190G>A (p.Val1064Met) n.2276G>A n.43G>A c.3334G>A (p.Val1112Met) c.3331G>A (p.Val1111Met) c.2278G>A (p.Val760Met) c.3124G>A (p.Val1042Met) c.2644G>A (p.Val882Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977404A= | CA2034476408 | COL2A1 | c.2982T= (p.Ala994=) c.3189T= (p.Ala1063=) n.2275T= n.42T= c.3333T= (p.Ala1111=) c.3330T= (p.Ala1110=) c.2277T= (p.Ala759=) c.3123T= (p.Ala1041=) c.2643T= (p.Ala881=) | |
| 12 | g.47977404A>C | CA479454007 | COL2A1 | c.2982T>G (p.Ala994=) c.3189T>G (p.Ala1063=) n.2275T>G n.42T>G c.3333T>G (p.Ala1111=) c.3330T>G (p.Ala1110=) c.2277T>G (p.Ala759=) c.3123T>G (p.Ala1041=) c.2643T>G (p.Ala881=) | |
| 12 | g.47977404A>G | CA6534843 | COL2A1 | c.2982T>C (p.Ala994=) c.3189T>C (p.Ala1063=) n.2275T>C n.42T>C c.3333T>C (p.Ala1111=) c.3330T>C (p.Ala1110=) c.2277T>C (p.Ala759=) c.3123T>C (p.Ala1041=) c.2643T>C (p.Ala881=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977404A>T | CA479454008 | COL2A1 | c.2982T>A (p.Ala994=) c.3189T>A (p.Ala1063=) n.2275T>A n.42T>A c.3333T>A (p.Ala1111=) c.3330T>A (p.Ala1110=) c.2277T>A (p.Ala759=) c.3123T>A (p.Ala1041=) c.2643T>A (p.Ala881=) | |
| 12 | g.47977404dup | CA2580085495 | COL2A1 | c.2982dup (p.Val995CysfsTer?) c.3189dup (p.Val1064CysfsTer?) n.2275dup n.42dup c.3333dup (p.Val1112CysfsTer?) c.3330dup (p.Val1111CysfsTer?) c.2277dup (p.Val760CysfsTer?) c.3123dup (p.Val1042CysfsTer?) c.2643dup (p.Val882CysfsTer?) | ClinVar |
| 12 | g.47977405G>A | CA236521006 | COL2A1 | c.2981C>T (p.Ala994Val) c.3188C>T (p.Ala1063Val) n.2274C>T n.41C>T c.3332C>T (p.Ala1111Val) c.3329C>T (p.Ala1110Val) c.2276C>T (p.Ala759Val) c.3122C>T (p.Ala1041Val) c.2642C>T (p.Ala881Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977405G>C | CA384540433 | COL2A1 | c.2981C>G (p.Ala994Gly) c.3188C>G (p.Ala1063Gly) n.2274C>G n.41C>G c.3332C>G (p.Ala1111Gly) c.3329C>G (p.Ala1110Gly) c.2276C>G (p.Ala759Gly) c.3122C>G (p.Ala1041Gly) c.2642C>G (p.Ala881Gly) | |
| 12 | g.47977405G= | CA2034476409 | COL2A1 | c.2981C= (p.Ala994=) c.3188C= (p.Ala1063=) n.2274C= n.41C= c.3332C= (p.Ala1111=) c.3329C= (p.Ala1110=) c.2276C= (p.Ala759=) c.3122C= (p.Ala1041=) c.2642C= (p.Ala881=) | |
| 12 | g.47977405G>T | CA384540434 | COL2A1 | c.2981C>A (p.Ala994Asp) c.3188C>A (p.Ala1063Asp) n.2274C>A n.41C>A c.3332C>A (p.Ala1111Asp) c.3329C>A (p.Ala1110Asp) c.2276C>A (p.Ala759Asp) c.3122C>A (p.Ala1041Asp) c.2642C>A (p.Ala881Asp) | |
| 12 | g.47977405_47977413del | CA2695199066 | COL2A1 | c.2973_2981del (p.Glu991_Ala994delinsAsp) c.3180_3188del (p.Glu1060_Ala1063delinsAsp) n.2266_2274del n.33_41del c.3324_3332del (p.Glu1108_Ala1111delinsAsp) c.3321_3329del (p.Glu1107_Ala1110delinsAsp) c.2268_2276del (p.Glu756_Ala759delinsAsp) c.3114_3122del (p.Glu1038_Ala1041delinsAsp) c.2634_2642del (p.Glu878_Ala881delinsAsp) | ClinVar |
| 12 | g.47977406C>A | CA384540436 | COL2A1 | c.2980G>T (p.Ala994Ser) c.3187G>T (p.Ala1063Ser) n.2273G>T n.40G>T c.3331G>T (p.Ala1111Ser) c.3328G>T (p.Ala1110Ser) c.2275G>T (p.Ala759Ser) c.3121G>T (p.Ala1041Ser) c.2641G>T (p.Ala881Ser) | |
| 12 | g.47977406C>G | CA384540437 | COL2A1 | c.2980G>C (p.Ala994Pro) c.3187G>C (p.Ala1063Pro) n.2273G>C n.40G>C c.3331G>C (p.Ala1111Pro) c.3328G>C (p.Ala1110Pro) c.2275G>C (p.Ala759Pro) c.3121G>C (p.Ala1041Pro) c.2641G>C (p.Ala881Pro) | |
| 12 | g.47977406C>T | CA384540435 | COL2A1 | c.2980G>A (p.Ala994Thr) c.3187G>A (p.Ala1063Thr) n.2273G>A n.40G>A c.3331G>A (p.Ala1111Thr) c.3328G>A (p.Ala1110Thr) c.2275G>A (p.Ala759Thr) c.3121G>A (p.Ala1041Thr) c.2641G>A (p.Ala881Thr) | |
| 12 | g.47977407A>C | CA479454016 | COL2A1 | c.2979T>G (p.Gly993=) c.3186T>G (p.Gly1062=) n.2272T>G n.39T>G c.3330T>G (p.Gly1110=) c.3327T>G (p.Gly1109=) c.2274T>G (p.Gly758=) c.3120T>G (p.Gly1040=) c.2640T>G (p.Gly880=) | ClinVar |
| 12 | g.47977407A>G | CA479454022 | COL2A1 | c.2979T>C (p.Gly993=) c.3186T>C (p.Gly1062=) n.2272T>C n.39T>C c.3330T>C (p.Gly1110=) c.3327T>C (p.Gly1109=) c.2274T>C (p.Gly758=) c.3120T>C (p.Gly1040=) c.2640T>C (p.Gly880=) | |
| 12 | g.47977407A>T | CA479454020 | COL2A1 | c.2979T>A (p.Gly993=) c.3186T>A (p.Gly1062=) n.2272T>A n.39T>A c.3330T>A (p.Gly1110=) c.3327T>A (p.Gly1109=) c.2274T>A (p.Gly758=) c.3120T>A (p.Gly1040=) c.2640T>A (p.Gly880=) | |
| 12 | g.47977408C>A | CA384540438 | COL2A1 | c.2978G>T (p.Gly993Val) c.3185G>T (p.Gly1062Val) n.2271G>T n.38G>T c.3329G>T (p.Gly1110Val) c.3326G>T (p.Gly1109Val) c.2273G>T (p.Gly758Val) c.3119G>T (p.Gly1040Val) c.2639G>T (p.Gly880Val) | |
| 12 | g.47977408C>G | CA384540439 | COL2A1 | c.2978G>C (p.Gly993Ala) c.3185G>C (p.Gly1062Ala) n.2271G>C n.38G>C c.3329G>C (p.Gly1110Ala) c.3326G>C (p.Gly1109Ala) c.2273G>C (p.Gly758Ala) c.3119G>C (p.Gly1040Ala) c.2639G>C (p.Gly880Ala) | |
| 12 | g.47977408C>T | CA384540440 | COL2A1 | c.2978G>A (p.Gly993Asp) c.3185G>A (p.Gly1062Asp) n.2271G>A n.38G>A c.3329G>A (p.Gly1110Asp) c.3326G>A (p.Gly1109Asp) c.2273G>A (p.Gly758Asp) c.3119G>A (p.Gly1040Asp) c.2639G>A (p.Gly880Asp) | |
| 12 | g.47977409C>A | CA384540441 | COL2A1 | c.2977G>T (p.Gly993Cys) c.3184G>T (p.Gly1062Cys) n.2270G>T n.37G>T c.3328G>T (p.Gly1110Cys) c.3325G>T (p.Gly1109Cys) c.2272G>T (p.Gly758Cys) c.3118G>T (p.Gly1040Cys) c.2638G>T (p.Gly880Cys) | |
| 12 | g.47977409C>G | CA384540442 | COL2A1 | c.2977G>C (p.Gly993Arg) c.3184G>C (p.Gly1062Arg) n.2270G>C n.37G>C c.3328G>C (p.Gly1110Arg) c.3325G>C (p.Gly1109Arg) c.2272G>C (p.Gly758Arg) c.3118G>C (p.Gly1040Arg) c.2638G>C (p.Gly880Arg) | |
| 12 | g.47977409C>T | CA384540444 | COL2A1 | c.2977G>A (p.Gly993Ser) c.3184G>A (p.Gly1062Ser) n.2270G>A n.37G>A c.3328G>A (p.Gly1110Ser) c.3325G>A (p.Gly1109Ser) c.2272G>A (p.Gly758Ser) c.3118G>A (p.Gly1040Ser) c.2638G>A (p.Gly880Ser) | |
| 12 | g.47977410A>C | CA479454033 | COL2A1 | c.2976T>G (p.Thr992=) c.3183T>G (p.Thr1061=) n.2269T>G n.36T>G c.3327T>G (p.Thr1109=) c.3324T>G (p.Thr1108=) c.2271T>G (p.Thr757=) c.3117T>G (p.Thr1039=) c.2637T>G (p.Thr879=) | |
| 12 | g.47977410A>G | CA479454035 | COL2A1 | c.2976T>C (p.Thr992=) c.3183T>C (p.Thr1061=) n.2269T>C n.36T>C c.3327T>C (p.Thr1109=) c.3324T>C (p.Thr1108=) c.2271T>C (p.Thr757=) c.3117T>C (p.Thr1039=) c.2637T>C (p.Thr879=) | |
| 12 | g.47977410A>T | CA479454037 | COL2A1 | c.2976T>A (p.Thr992=) c.3183T>A (p.Thr1061=) n.2269T>A n.36T>A c.3327T>A (p.Thr1109=) c.3324T>A (p.Thr1108=) c.2271T>A (p.Thr757=) c.3117T>A (p.Thr1039=) c.2637T>A (p.Thr879=) | |
| 12 | g.47977411G>A | CA384540448 | COL2A1 | c.2975C>T (p.Thr992Ile) c.3182C>T (p.Thr1061Ile) n.2268C>T n.35C>T c.3326C>T (p.Thr1109Ile) c.3323C>T (p.Thr1108Ile) c.2270C>T (p.Thr757Ile) c.3116C>T (p.Thr1039Ile) c.2636C>T (p.Thr879Ile) | |
| 12 | g.47977411G>C | CA384540446 | COL2A1 | c.2975C>G (p.Thr992Ser) c.3182C>G (p.Thr1061Ser) n.2268C>G n.35C>G c.3326C>G (p.Thr1109Ser) c.3323C>G (p.Thr1108Ser) c.2270C>G (p.Thr757Ser) c.3116C>G (p.Thr1039Ser) c.2636C>G (p.Thr879Ser) | |
| 12 | g.47977411G= | CA2034476410 | COL2A1 | c.2975C= (p.Thr992=) c.3182C= (p.Thr1061=) n.2268C= n.35C= c.3326C= (p.Thr1109=) c.3323C= (p.Thr1108=) c.2270C= (p.Thr757=) c.3116C= (p.Thr1039=) c.2636C= (p.Thr879=) | |
| 12 | g.47977411G>T | CA384540447 | COL2A1 | c.2975C>A (p.Thr992Asn) c.3182C>A (p.Thr1061Asn) n.2268C>A n.35C>A c.3326C>A (p.Thr1109Asn) c.3323C>A (p.Thr1108Asn) c.2270C>A (p.Thr757Asn) c.3116C>A (p.Thr1039Asn) c.2636C>A (p.Thr879Asn) | dbSNP gnomAD v4 |
| 12 | g.47977412T>A | CA384540449 | COL2A1 | c.2974A>T (p.Thr992Ser) c.3181A>T (p.Thr1061Ser) n.2267A>T n.34A>T c.3325A>T (p.Thr1109Ser) c.3322A>T (p.Thr1108Ser) c.2269A>T (p.Thr757Ser) c.3115A>T (p.Thr1039Ser) c.2635A>T (p.Thr879Ser) | |
| 12 | g.47977412T>C | CA384540450 | COL2A1 | c.2974A>G (p.Thr992Ala) c.3181A>G (p.Thr1061Ala) n.2267A>G n.34A>G c.3325A>G (p.Thr1109Ala) c.3322A>G (p.Thr1108Ala) c.2269A>G (p.Thr757Ala) c.3115A>G (p.Thr1039Ala) c.2635A>G (p.Thr879Ala) | gnomAD v4 |
| 12 | g.47977412T>G | CA384540451 | COL2A1 | c.2974A>C (p.Thr992Pro) c.3181A>C (p.Thr1061Pro) n.2267A>C n.34A>C c.3325A>C (p.Thr1109Pro) c.3322A>C (p.Thr1108Pro) c.2269A>C (p.Thr757Pro) c.3115A>C (p.Thr1039Pro) c.2635A>C (p.Thr879Pro) | |
| 12 | g.47977414_47977415del | CA2575137866 | COL2A1 | c.2973_2974del (p.Glu991AspfsTer?) c.3180_3181del (p.Glu1060AspfsTer?) n.2266_2267del n.33_34del c.3324_3325del (p.Glu1108AspfsTer?) c.3321_3322del (p.Glu1107AspfsTer?) c.2268_2269del (p.Glu756AspfsTer?) c.3114_3115del (p.Glu1038AspfsTer?) c.2634_2635del (p.Glu878AspfsTer?) | |
| 12 | g.47977413C>A | CA384540452 | COL2A1 | c.2973G>T (p.Glu991Asp) c.3180G>T (p.Glu1060Asp) n.2266G>T n.33G>T c.3324G>T (p.Glu1108Asp) c.3321G>T (p.Glu1107Asp) c.2268G>T (p.Glu756Asp) c.3114G>T (p.Glu1038Asp) c.2634G>T (p.Glu878Asp) | gnomAD v4 |
| 12 | g.47977413C= | CA2034476411 | COL2A1 | c.2973G= (p.Glu991=) c.3180G= (p.Glu1060=) n.2266G= n.33G= c.3324G= (p.Glu1108=) c.3321G= (p.Glu1107=) c.2268G= (p.Glu756=) c.3114G= (p.Glu1038=) c.2634G= (p.Glu878=) | |
| 12 | g.47977413C>G | CA384540453 | COL2A1 | c.2973G>C (p.Glu991Asp) c.3180G>C (p.Glu1060Asp) n.2266G>C n.33G>C c.3324G>C (p.Glu1108Asp) c.3321G>C (p.Glu1107Asp) c.2268G>C (p.Glu756Asp) c.3114G>C (p.Glu1038Asp) c.2634G>C (p.Glu878Asp) | |
| 12 | g.47977413C>T | CA479454046 | COL2A1 | c.2973G>A (p.Glu991=) c.3180G>A (p.Glu1060=) n.2266G>A n.33G>A c.3324G>A (p.Glu1108=) c.3321G>A (p.Glu1107=) c.2268G>A (p.Glu756=) c.3114G>A (p.Glu1038=) c.2634G>A (p.Glu878=) | dbSNP |
| 12 | g.47977414T>A | CA384540454 | COL2A1 | c.2972A>T (p.Glu991Val) c.3179A>T (p.Glu1060Val) n.2265A>T n.32A>T c.3323A>T (p.Glu1108Val) c.3320A>T (p.Glu1107Val) c.2267A>T (p.Glu756Val) c.3113A>T (p.Glu1038Val) c.2633A>T (p.Glu878Val) | dbSNP gnomAD v2 |
| 12 | g.47977414T>C | CA384540456 | COL2A1 | c.2972A>G (p.Glu991Gly) c.3179A>G (p.Glu1060Gly) n.2265A>G n.32A>G c.3323A>G (p.Glu1108Gly) c.3320A>G (p.Glu1107Gly) c.2267A>G (p.Glu756Gly) c.3113A>G (p.Glu1038Gly) c.2633A>G (p.Glu878Gly) | |
| 12 | g.47977414T>G | CA384540455 | COL2A1 | c.2972A>C (p.Glu991Ala) c.3179A>C (p.Glu1060Ala) n.2265A>C n.32A>C c.3323A>C (p.Glu1108Ala) c.3320A>C (p.Glu1107Ala) c.2267A>C (p.Glu756Ala) c.3113A>C (p.Glu1038Ala) c.2633A>C (p.Glu878Ala) | |
| 12 | g.47977414T= | CA2034476412 | COL2A1 | c.2972A= (p.Glu991=) c.3179A= (p.Glu1060=) n.2265A= n.32A= c.3323A= (p.Glu1108=) c.3320A= (p.Glu1107=) c.2267A= (p.Glu756=) c.3113A= (p.Glu1038=) c.2633A= (p.Glu878=) | |
| 12 | g.47977415C>A | CA384540457 | COL2A1 | c.2971G>T (p.Glu991Ter) c.3178G>T (p.Glu1060Ter) n.2264G>T n.31G>T c.3322G>T (p.Glu1108Ter) c.3319G>T (p.Glu1107Ter) c.2266G>T (p.Glu756Ter) c.3112G>T (p.Glu1038Ter) c.2632G>T (p.Glu878Ter) | |
| 12 | g.47977415C= | CA2034476413 | COL2A1 | c.2971G= (p.Glu991=) c.3178G= (p.Glu1060=) n.2264G= n.31G= c.3322G= (p.Glu1108=) c.3319G= (p.Glu1107=) c.2266G= (p.Glu756=) c.3112G= (p.Glu1038=) c.2632G= (p.Glu878=) | |
| 12 | g.47977415C>G | CA384540458 | COL2A1 | c.2971G>C (p.Glu991Gln) c.3178G>C (p.Glu1060Gln) n.2264G>C n.31G>C c.3322G>C (p.Glu1108Gln) c.3319G>C (p.Glu1107Gln) c.2266G>C (p.Glu756Gln) c.3112G>C (p.Glu1038Gln) c.2632G>C (p.Glu878Gln) | |
| 12 | g.47977415C>T | CA384540459 | COL2A1 | c.2971G>A (p.Glu991Lys) c.3178G>A (p.Glu1060Lys) n.2264G>A n.31G>A c.3322G>A (p.Glu1108Lys) c.3319G>A (p.Glu1107Lys) c.2266G>A (p.Glu756Lys) c.3112G>A (p.Glu1038Lys) c.2632G>A (p.Glu878Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977416A= | CA2034476414 | COL2A1 | c.2970T= (p.Gly990=) c.3177T= (p.Gly1059=) n.2263T= n.30T= c.3321T= (p.Gly1107=) c.3318T= (p.Gly1106=) c.2265T= (p.Gly755=) c.3111T= (p.Gly1037=) c.2631T= (p.Gly877=) | |
| 12 | g.47977416A>C | CA479454062 | COL2A1 | c.2970T>G (p.Gly990=) c.3177T>G (p.Gly1059=) n.2263T>G n.30T>G c.3321T>G (p.Gly1107=) c.3318T>G (p.Gly1106=) c.2265T>G (p.Gly755=) c.3111T>G (p.Gly1037=) c.2631T>G (p.Gly877=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977416A>G | CA479454058 | COL2A1 | c.2970T>C (p.Gly990=) c.3177T>C (p.Gly1059=) n.2263T>C n.30T>C c.3321T>C (p.Gly1107=) c.3318T>C (p.Gly1106=) c.2265T>C (p.Gly755=) c.3111T>C (p.Gly1037=) c.2631T>C (p.Gly877=) | |
| 12 | g.47977416A>T | CA479454059 | COL2A1 | c.2970T>A (p.Gly990=) c.3177T>A (p.Gly1059=) n.2263T>A n.30T>A c.3321T>A (p.Gly1107=) c.3318T>A (p.Gly1106=) c.2265T>A (p.Gly755=) c.3111T>A (p.Gly1037=) c.2631T>A (p.Gly877=) | |
| 12 | g.47977417C>A | CA384540460 | COL2A1 | c.2969G>T (p.Gly990Val) c.3176G>T (p.Gly1059Val) n.2262G>T n.29G>T c.3320G>T (p.Gly1107Val) c.3317G>T (p.Gly1106Val) c.2264G>T (p.Gly755Val) c.3110G>T (p.Gly1037Val) c.2630G>T (p.Gly877Val) | |
| 12 | g.47977417C>G | CA384540461 | COL2A1 | c.2969G>C (p.Gly990Ala) c.3176G>C (p.Gly1059Ala) n.2262G>C n.29G>C c.3320G>C (p.Gly1107Ala) c.3317G>C (p.Gly1106Ala) c.2264G>C (p.Gly755Ala) c.3110G>C (p.Gly1037Ala) c.2630G>C (p.Gly877Ala) | |
| 12 | g.47977417C>T | CA384540462 | COL2A1 | c.2969G>A (p.Gly990Asp) c.3176G>A (p.Gly1059Asp) n.2262G>A n.29G>A c.3320G>A (p.Gly1107Asp) c.3317G>A (p.Gly1106Asp) c.2264G>A (p.Gly755Asp) c.3110G>A (p.Gly1037Asp) c.2630G>A (p.Gly877Asp) | |
| 12 | g.47977418C>A | CA384540463 | COL2A1 | c.2968G>T (p.Gly990Cys) c.3175G>T (p.Gly1059Cys) n.2261G>T n.28G>T c.3319G>T (p.Gly1107Cys) c.3316G>T (p.Gly1106Cys) c.2263G>T (p.Gly755Cys) c.3109G>T (p.Gly1037Cys) c.2629G>T (p.Gly877Cys) | |
| 12 | g.47977418C>G | CA384540464 | COL2A1 | c.2968G>C (p.Gly990Arg) c.3175G>C (p.Gly1059Arg) n.2261G>C n.28G>C c.3319G>C (p.Gly1107Arg) c.3316G>C (p.Gly1106Arg) c.2263G>C (p.Gly755Arg) c.3109G>C (p.Gly1037Arg) c.2629G>C (p.Gly877Arg) | |
| 12 | g.47977418C>T | CA384540465 | COL2A1 | c.2968G>A (p.Gly990Ser) c.3175G>A (p.Gly1059Ser) n.2261G>A n.28G>A c.3319G>A (p.Gly1107Ser) c.3316G>A (p.Gly1106Ser) c.2263G>A (p.Gly755Ser) c.3109G>A (p.Gly1037Ser) c.2629G>A (p.Gly877Ser) | |
| 12 | g.47977419A>C | CA479454075 | COL2A1 | c.2967T>G (p.Arg989=) c.3174T>G (p.Arg1058=) n.2260T>G n.27T>G c.3318T>G (p.Arg1106=) c.3315T>G (p.Arg1105=) c.2262T>G (p.Arg754=) c.3108T>G (p.Arg1036=) c.2628T>G (p.Arg876=) | |
| 12 | g.47977419A>G | CA479454076 | COL2A1 | c.2967T>C (p.Arg989=) c.3174T>C (p.Arg1058=) n.2260T>C n.27T>C c.3318T>C (p.Arg1106=) c.3315T>C (p.Arg1105=) c.2262T>C (p.Arg754=) c.3108T>C (p.Arg1036=) c.2628T>C (p.Arg876=) | |
| 12 | g.47977419A>T | CA479454080 | COL2A1 | c.2967T>A (p.Arg989=) c.3174T>A (p.Arg1058=) n.2260T>A n.27T>A c.3318T>A (p.Arg1106=) c.3315T>A (p.Arg1105=) c.2262T>A (p.Arg754=) c.3108T>A (p.Arg1036=) c.2628T>A (p.Arg876=) | |
| 12 | g.47977420C>A | CA6534845 | COL2A1 | c.2966G>T (p.Arg989Leu) c.3173G>T (p.Arg1058Leu) n.2259G>T n.26G>T c.3317G>T (p.Arg1106Leu) c.3314G>T (p.Arg1105Leu) c.2261G>T (p.Arg754Leu) c.3107G>T (p.Arg1036Leu) c.2627G>T (p.Arg876Leu) | dbSNP ExAC |
| 12 | g.47977420C= | CA2034476415 | COL2A1 | c.2966G= (p.Arg989=) c.3173G= (p.Arg1058=) n.2259G= n.26G= c.3317G= (p.Arg1106=) c.3314G= (p.Arg1105=) c.2261G= (p.Arg754=) c.3107G= (p.Arg1036=) c.2627G= (p.Arg876=) | |
| 12 | g.47977420C>G | CA384540466 | COL2A1 | c.2966G>C (p.Arg989Pro) c.3173G>C (p.Arg1058Pro) n.2259G>C n.26G>C c.3317G>C (p.Arg1106Pro) c.3314G>C (p.Arg1105Pro) c.2261G>C (p.Arg754Pro) c.3107G>C (p.Arg1036Pro) c.2627G>C (p.Arg876Pro) | gnomAD v4 |
| 12 | g.47977420C>T | CA6534844 | COL2A1 | c.2966G>A (p.Arg989His) c.3173G>A (p.Arg1058His) n.2259G>A n.26G>A c.3317G>A (p.Arg1106His) c.3314G>A (p.Arg1105His) c.2261G>A (p.Arg754His) c.3107G>A (p.Arg1036His) c.2627G>A (p.Arg876His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977421G>A | CA6534846 | COL2A1 | c.2965C>T (p.Arg989Cys) c.3172C>T (p.Arg1058Cys) n.2258C>T n.25C>T c.3316C>T (p.Arg1106Cys) c.3313C>T (p.Arg1105Cys) c.2260C>T (p.Arg754Cys) c.3106C>T (p.Arg1036Cys) c.2626C>T (p.Arg876Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47977421G>C | CA384540467 | COL2A1 | c.2965C>G (p.Arg989Gly) c.3172C>G (p.Arg1058Gly) n.2258C>G n.25C>G c.3316C>G (p.Arg1106Gly) c.3313C>G (p.Arg1105Gly) c.2260C>G (p.Arg754Gly) c.3106C>G (p.Arg1036Gly) c.2626C>G (p.Arg876Gly) | |
| 12 | g.47977421G= | CA2034476416 | COL2A1 | c.2965C= (p.Arg989=) c.3172C= (p.Arg1058=) n.2258C= n.25C= c.3316C= (p.Arg1106=) c.3313C= (p.Arg1105=) c.2260C= (p.Arg754=) c.3106C= (p.Arg1036=) c.2626C= (p.Arg876=) | |
| 12 | g.47977421G>T | CA6534847 | COL2A1 | c.2965C>A (p.Arg989Ser) c.3172C>A (p.Arg1058Ser) n.2258C>A n.25C>A c.3316C>A (p.Arg1106Ser) c.3313C>A (p.Arg1105Ser) c.2260C>A (p.Arg754Ser) c.3106C>A (p.Arg1036Ser) c.2626C>A (p.Arg876Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977422A>C | CA384540468 | COL2A1 | c.2964T>G (p.Asp988Glu) c.3171T>G (p.Asp1057Glu) n.2257T>G n.24T>G c.3315T>G (p.Asp1105Glu) c.3312T>G (p.Asp1104Glu) c.2259T>G (p.Asp753Glu) c.3105T>G (p.Asp1035Glu) c.2625T>G (p.Asp875Glu) | |
| 12 | g.47977422A>G | CA479454091 | COL2A1 | c.2964T>C (p.Asp988=) c.3171T>C (p.Asp1057=) n.2257T>C n.24T>C c.3315T>C (p.Asp1105=) c.3312T>C (p.Asp1104=) c.2259T>C (p.Asp753=) c.3105T>C (p.Asp1035=) c.2625T>C (p.Asp875=) | |
| 12 | g.47977422A>T | CA384540469 | COL2A1 | c.2964T>A (p.Asp988Glu) c.3171T>A (p.Asp1057Glu) n.2257T>A n.24T>A c.3315T>A (p.Asp1105Glu) c.3312T>A (p.Asp1104Glu) c.2259T>A (p.Asp753Glu) c.3105T>A (p.Asp1035Glu) c.2625T>A (p.Asp875Glu) | |
| 12 | g.47977423T>A | CA384540470 | COL2A1 | c.2963A>T (p.Asp988Val) c.3170A>T (p.Asp1057Val) n.2256A>T n.23A>T c.3314A>T (p.Asp1105Val) c.3311A>T (p.Asp1104Val) c.2258A>T (p.Asp753Val) c.3104A>T (p.Asp1035Val) c.2624A>T (p.Asp875Val) | |
| 12 | g.47977423T>C | CA384540472 | COL2A1 | c.2963A>G (p.Asp988Gly) c.3170A>G (p.Asp1057Gly) n.2256A>G n.23A>G c.3314A>G (p.Asp1105Gly) c.3311A>G (p.Asp1104Gly) c.2258A>G (p.Asp753Gly) c.3104A>G (p.Asp1035Gly) c.2624A>G (p.Asp875Gly) | |
| 12 | g.47977423T>G | CA384540471 | COL2A1 | c.2963A>C (p.Asp988Ala) c.3170A>C (p.Asp1057Ala) n.2256A>C n.23A>C c.3314A>C (p.Asp1105Ala) c.3311A>C (p.Asp1104Ala) c.2258A>C (p.Asp753Ala) c.3104A>C (p.Asp1035Ala) c.2624A>C (p.Asp875Ala) | |
| 12 | g.47977424C>A | CA384540473 | COL2A1 | c.2962G>T (p.Asp988Tyr) c.3169G>T (p.Asp1057Tyr) n.2255G>T n.22G>T c.3313G>T (p.Asp1105Tyr) c.3310G>T (p.Asp1104Tyr) c.2257G>T (p.Asp753Tyr) c.3103G>T (p.Asp1035Tyr) c.2623G>T (p.Asp875Tyr) | |
| 12 | g.47977424C= | CA2034476417 | COL2A1 | c.2962G= (p.Asp988=) c.3169G= (p.Asp1057=) n.2255G= n.22G= c.3313G= (p.Asp1105=) c.3310G= (p.Asp1104=) c.2257G= (p.Asp753=) c.3103G= (p.Asp1035=) c.2623G= (p.Asp875=) | |
| 12 | g.47977424C>G | CA384540474 | COL2A1 | c.2962G>C (p.Asp988His) c.3169G>C (p.Asp1057His) n.2255G>C n.22G>C c.3313G>C (p.Asp1105His) c.3310G>C (p.Asp1104His) c.2257G>C (p.Asp753His) c.3103G>C (p.Asp1035His) c.2623G>C (p.Asp875His) | |
| 12 | g.47977424C>T | CA384540475 | COL2A1 | c.2962G>A (p.Asp988Asn) c.3169G>A (p.Asp1057Asn) n.2255G>A n.22G>A c.3313G>A (p.Asp1105Asn) c.3310G>A (p.Asp1104Asn) c.2257G>A (p.Asp753Asn) c.3103G>A (p.Asp1035Asn) c.2623G>A (p.Asp875Asn) | dbSNP gnomAD v2 |
| 12 | g.47977425A>C | CA479454103 | COL2A1 | c.2961T>G (p.Gly987=) c.3168T>G (p.Gly1056=) n.2254T>G n.21T>G c.3312T>G (p.Gly1104=) c.3309T>G (p.Gly1103=) c.2256T>G (p.Gly752=) c.3102T>G (p.Gly1034=) c.2622T>G (p.Gly874=) | |
| 12 | g.47977425A>G | CA479454105 | COL2A1 | c.2961T>C (p.Gly987=) c.3168T>C (p.Gly1056=) n.2254T>C n.21T>C c.3312T>C (p.Gly1104=) c.3309T>C (p.Gly1103=) c.2256T>C (p.Gly752=) c.3102T>C (p.Gly1034=) c.2622T>C (p.Gly874=) | |
| 12 | g.47977425A>T | CA479454107 | COL2A1 | c.2961T>A (p.Gly987=) c.3168T>A (p.Gly1056=) n.2254T>A n.21T>A c.3312T>A (p.Gly1104=) c.3309T>A (p.Gly1103=) c.2256T>A (p.Gly752=) c.3102T>A (p.Gly1034=) c.2622T>A (p.Gly874=) | |
| 12 | g.47977426C>A | CA384540476 | COL2A1 | c.2960G>T (p.Gly987Val) c.3167G>T (p.Gly1056Val) n.2253G>T n.20G>T c.3311G>T (p.Gly1104Val) c.3308G>T (p.Gly1103Val) c.2255G>T (p.Gly752Val) c.3101G>T (p.Gly1034Val) c.2621G>T (p.Gly874Val) | |
| 12 | g.47977426C>G | CA384540477 | COL2A1 | c.2960G>C (p.Gly987Ala) c.3167G>C (p.Gly1056Ala) n.2253G>C n.20G>C c.3311G>C (p.Gly1104Ala) c.3308G>C (p.Gly1103Ala) c.2255G>C (p.Gly752Ala) c.3101G>C (p.Gly1034Ala) c.2621G>C (p.Gly874Ala) | |
| 12 | g.47977426C>T | CA384540478 | COL2A1 | c.2960G>A (p.Gly987Asp) c.3167G>A (p.Gly1056Asp) n.2253G>A n.20G>A c.3311G>A (p.Gly1104Asp) c.3308G>A (p.Gly1103Asp) c.2255G>A (p.Gly752Asp) c.3101G>A (p.Gly1034Asp) c.2621G>A (p.Gly874Asp) | |
| 12 | g.47977427C>A | CA384540479 | COL2A1 | c.2959G>T (p.Gly987Cys) c.3166G>T (p.Gly1056Cys) n.2252G>T n.19G>T c.3310G>T (p.Gly1104Cys) c.3307G>T (p.Gly1103Cys) c.2254G>T (p.Gly752Cys) c.3100G>T (p.Gly1034Cys) c.2620G>T (p.Gly874Cys) | |
| 12 | g.47977427C>G | CA384540480 | COL2A1 | c.2959G>C (p.Gly987Arg) c.3166G>C (p.Gly1056Arg) n.2252G>C n.19G>C c.3310G>C (p.Gly1104Arg) c.3307G>C (p.Gly1103Arg) c.2254G>C (p.Gly752Arg) c.3100G>C (p.Gly1034Arg) c.2620G>C (p.Gly874Arg) | |
| 12 | g.47977427C>T | CA384540481 | COL2A1 | c.2959G>A (p.Gly987Ser) c.3166G>A (p.Gly1056Ser) n.2252G>A n.19G>A c.3310G>A (p.Gly1104Ser) c.3307G>A (p.Gly1103Ser) c.2254G>A (p.Gly752Ser) c.3100G>A (p.Gly1034Ser) c.2620G>A (p.Gly874Ser) | |
| 12 | g.47977428C>A | CA384540482 | COL2A1 | c.2959-1G>T (n.2959-1G>T) c.3166-1G>T (n.3166-1G>T) n.2252-1G>T n.18G>T c.3310-1G>T (n.3310-1G>T) c.3307-1G>T (n.3307-1G>T) c.2254-1G>T (n.2254-1G>T) c.3100-1G>T (n.3100-1G>T) c.2620-1G>T (n.2620-1G>T) | |
| 12 | g.47977428C= | CA2034476418 | COL2A1 | c.2959-1G= (n.2959-1G=) c.3166-1G= (n.3166-1G=) n.2252-1G= n.18G= c.3310-1G= (n.3310-1G=) c.3307-1G= (n.3307-1G=) c.2254-1G= (n.2254-1G=) c.3100-1G= (n.3100-1G=) c.2620-1G= (n.2620-1G=) | |
| 12 | g.47977428C>G | CA384540483 | COL2A1 | c.2959-1G>C (n.2959-1G>C) c.3166-1G>C (n.3166-1G>C) n.2252-1G>C n.18G>C c.3310-1G>C (n.3310-1G>C) c.3307-1G>C (n.3307-1G>C) c.2254-1G>C (n.2254-1G>C) c.3100-1G>C (n.3100-1G>C) c.2620-1G>C (n.2620-1G>C) | |
| 12 | g.47977428C>T | CA384540484 | COL2A1 | c.2959-1G>A (n.2959-1G>A) c.3166-1G>A (n.3166-1G>A) n.2252-1G>A n.18G>A c.3310-1G>A (n.3310-1G>A) c.3307-1G>A (n.3307-1G>A) c.2254-1G>A (n.2254-1G>A) c.3100-1G>A (n.3100-1G>A) c.2620-1G>A (n.2620-1G>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47977428_47977429del | CA2499221655 | COL2A1 | c.2959-2_2959-1del (n.2959-2_2959-1del) c.3166-2_3166-1del (n.3166-2_3166-1del) n.2252-2_2252-1del n.17_18del c.3310-2_3310-1del (n.3310-2_3310-1del) c.3307-2_3307-1del (n.3307-2_3307-1del) c.2254-2_2254-1del (n.2254-2_2254-1del) c.3100-2_3100-1del (n.3100-2_3100-1del) c.2620-2_2620-1del (n.2620-2_2620-1del) | ClinVar dbSNP |
| 12 | g.47977429T>A | CA384540487 | COL2A1 | c.2959-2A>T (n.2959-2A>T) c.3166-2A>T (n.3166-2A>T) n.2252-2A>T n.17A>T c.3310-2A>T (n.3310-2A>T) c.3307-2A>T (n.3307-2A>T) c.2254-2A>T (n.2254-2A>T) c.3100-2A>T (n.3100-2A>T) c.2620-2A>T (n.2620-2A>T) | |
| 12 | g.47977429T>C | CA384540485 | COL2A1 | c.2959-2A>G (n.2959-2A>G) c.3166-2A>G (n.3166-2A>G) n.2252-2A>G n.17A>G c.3310-2A>G (n.3310-2A>G) c.3307-2A>G (n.3307-2A>G) c.2254-2A>G (n.2254-2A>G) c.3100-2A>G (n.3100-2A>G) c.2620-2A>G (n.2620-2A>G) | |
| 12 | g.47977429T>G | CA384540486 | COL2A1 | c.2959-2A>C (n.2959-2A>C) c.3166-2A>C (n.3166-2A>C) n.2252-2A>C n.17A>C c.3310-2A>C (n.3310-2A>C) c.3307-2A>C (n.3307-2A>C) c.2254-2A>C (n.2254-2A>C) c.3100-2A>C (n.3100-2A>C) c.2620-2A>C (n.2620-2A>C) | |
| 12 | g.47977430G>A | CA236521030 | COL2A1 | c.2959-3C>T (n.2959-3C>T) c.3166-3C>T (n.3166-3C>T) n.2252-3C>T n.16C>T c.3310-3C>T (n.3310-3C>T) c.3307-3C>T (n.3307-3C>T) c.2254-3C>T (n.2254-3C>T) c.3100-3C>T (n.3100-3C>T) c.2620-3C>T (n.2620-3C>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47977430G= | CA2034476419 | COL2A1 | c.2959-3C= (n.2959-3C=) c.3166-3C= (n.3166-3C=) n.2252-3C= n.16C= c.3310-3C= (n.3310-3C=) c.3307-3C= (n.3307-3C=) c.2254-3C= (n.2254-3C=) c.3100-3C= (n.3100-3C=) c.2620-3C= (n.2620-3C=) | |
| 12 | g.47977432C>G | CA2575137217 | COL2A1 | c.2959-5G>C (n.2959-5G>C) c.3166-5G>C (n.3166-5G>C) n.2252-5G>C n.14G>C c.3310-5G>C (n.3310-5G>C) c.3307-5G>C (n.3307-5G>C) c.2254-5G>C (n.2254-5G>C) c.3100-5G>C (n.3100-5G>C) c.2620-5G>C (n.2620-5G>C) | gnomAD v4 |
| 12 | g.47977433A>G | CA2499221656 | COL2A1 | c.2959-6T>C (n.2959-6T>C) c.3166-6T>C (n.3166-6T>C) n.2252-6T>C n.13T>C c.3310-6T>C (n.3310-6T>C) c.3307-6T>C (n.3307-6T>C) c.2254-6T>C (n.2254-6T>C) c.3100-6T>C (n.3100-6T>C) c.2620-6T>C (n.2620-6T>C) | ClinVar dbSNP |
| 12 | g.47977434G>A | CA6534848 | COL2A1 | c.2959-7C>T (n.2959-7C>T) c.3166-7C>T (n.3166-7C>T) n.2252-7C>T n.12C>T c.3310-7C>T (n.3310-7C>T) c.3307-7C>T (n.3307-7C>T) c.2254-7C>T (n.2254-7C>T) c.3100-7C>T (n.3100-7C>T) c.2620-7C>T (n.2620-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977434G= | CA2034476420 | COL2A1 | c.2959-7C= (n.2959-7C=) c.3166-7C= (n.3166-7C=) n.2252-7C= n.12C= c.3310-7C= (n.3310-7C=) c.3307-7C= (n.3307-7C=) c.2254-7C= (n.2254-7C=) c.3100-7C= (n.3100-7C=) c.2620-7C= (n.2620-7C=) | |
| 12 | g.47977435G>A | CA658797881 | COL2A1 | c.2959-8C>T (n.2959-8C>T) c.3166-8C>T (n.3166-8C>T) n.2252-8C>T n.11C>T c.3310-8C>T (n.3310-8C>T) c.3307-8C>T (n.3307-8C>T) c.2254-8C>T (n.2254-8C>T) c.3100-8C>T (n.3100-8C>T) c.2620-8C>T (n.2620-8C>T) | ClinVar dbSNP |
| 12 | g.47977435G= | CA2034476421 | COL2A1 | c.2959-8C= (n.2959-8C=) c.3166-8C= (n.3166-8C=) n.2252-8C= n.11C= c.3310-8C= (n.3310-8C=) c.3307-8C= (n.3307-8C=) c.2254-8C= (n.2254-8C=) c.3100-8C= (n.3100-8C=) c.2620-8C= (n.2620-8C=) | |
| 12 | g.47977437G>T | CA2618511958 | COL2A1 | c.2959-10C>A (n.2959-10C>A) c.3166-10C>A (n.3166-10C>A) n.2252-10C>A n.9C>A c.3310-10C>A (n.3310-10C>A) c.3307-10C>A (n.3307-10C>A) c.2254-10C>A (n.2254-10C>A) c.3100-10C>A (n.3100-10C>A) c.2620-10C>A (n.2620-10C>A) | gnomAD v4 |
| 12 | g.47977439G>C | CA2618511959 | COL2A1 | c.2959-12C>G (n.2959-12C>G) c.3166-12C>G (n.3166-12C>G) n.2252-12C>G n.7C>G c.3310-12C>G (n.3310-12C>G) c.3307-12C>G (n.3307-12C>G) c.2254-12C>G (n.2254-12C>G) c.3100-12C>G (n.3100-12C>G) c.2620-12C>G (n.2620-12C>G) | gnomAD v4 |
| 12 | g.47977440A>G | CA2618511963 | COL2A1 | c.2959-13T>C (n.2959-13T>C) c.3166-13T>C (n.3166-13T>C) n.2252-13T>C n.6T>C c.3310-13T>C (n.3310-13T>C) c.3307-13T>C (n.3307-13T>C) c.2254-13T>C (n.2254-13T>C) c.3100-13T>C (n.3100-13T>C) c.2620-13T>C (n.2620-13T>C) | gnomAD v4 |
| 12 | g.47977441G>A | CA6534849 | COL2A1 | c.2959-14C>T (n.2959-14C>T) c.3166-14C>T (n.3166-14C>T) n.2252-14C>T n.5C>T c.3310-14C>T (n.3310-14C>T) c.3307-14C>T (n.3307-14C>T) c.2254-14C>T (n.2254-14C>T) c.3100-14C>T (n.3100-14C>T) c.2620-14C>T (n.2620-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977441G>C | CA605231648 | COL2A1 | c.2959-14C>G (n.2959-14C>G) c.3166-14C>G (n.3166-14C>G) n.2252-14C>G n.5C>G c.3310-14C>G (n.3310-14C>G) c.3307-14C>G (n.3307-14C>G) c.2254-14C>G (n.2254-14C>G) c.3100-14C>G (n.3100-14C>G) c.2620-14C>G (n.2620-14C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977441G= | CA2034476422 | COL2A1 | c.2959-14C= (n.2959-14C=) c.3166-14C= (n.3166-14C=) n.2252-14C= n.5C= c.3310-14C= (n.3310-14C=) c.3307-14C= (n.3307-14C=) c.2254-14C= (n.2254-14C=) c.3100-14C= (n.3100-14C=) c.2620-14C= (n.2620-14C=) | |
| 12 | g.47977441G>T | CA605231649 | COL2A1 | c.2959-14C>A (n.2959-14C>A) c.3166-14C>A (n.3166-14C>A) n.2252-14C>A n.5C>A c.3310-14C>A (n.3310-14C>A) c.3307-14C>A (n.3307-14C>A) c.2254-14C>A (n.2254-14C>A) c.3100-14C>A (n.3100-14C>A) c.2620-14C>A (n.2620-14C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977442G>A | CA605231650 | COL2A1 | c.2959-15C>T (n.2959-15C>T) c.3166-15C>T (n.3166-15C>T) n.2252-15C>T n.4C>T c.3310-15C>T (n.3310-15C>T) c.3307-15C>T (n.3307-15C>T) c.2254-15C>T (n.2254-15C>T) c.3100-15C>T (n.3100-15C>T) c.2620-15C>T (n.2620-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977442G= | CA2034476423 | COL2A1 | c.2959-15C= (n.2959-15C=) c.3166-15C= (n.3166-15C=) n.2252-15C= n.4C= c.3310-15C= (n.3310-15C=) c.3307-15C= (n.3307-15C=) c.2254-15C= (n.2254-15C=) c.3100-15C= (n.3100-15C=) c.2620-15C= (n.2620-15C=) | |
| 12 | g.47977442G>T | CA654728245 | COL2A1 | c.2959-15C>A (n.2959-15C>A) c.3166-15C>A (n.3166-15C>A) n.2252-15C>A n.4C>A c.3310-15C>A (n.3310-15C>A) c.3307-15C>A (n.3307-15C>A) c.2254-15C>A (n.2254-15C>A) c.3100-15C>A (n.3100-15C>A) c.2620-15C>A (n.2620-15C>A) | gnomAD v4 COSMIC |
| 12 | g.47977445_47977446del | CA2575137221 | COL2A1 | c.2959-17_2959-16del (n.2959-17_2959-16del) c.3166-17_3166-16del (n.3166-17_3166-16del) n.2252-17_2252-16del c.3310-17_3310-16del (n.3310-17_3310-16del) c.3307-17_3307-16del (n.3307-17_3307-16del) c.2254-17_2254-16del (n.2254-17_2254-16del) c.3100-17_3100-16del (n.3100-17_3100-16del) c.2620-17_2620-16del (n.2620-17_2620-16del) | |
| 12 | g.47977444C>T | CA2618511966 | COL2A1 | c.2959-17G>A (n.2959-17G>A) c.3166-17G>A (n.3166-17G>A) n.2252-17G>A n.2G>A c.3310-17G>A (n.3310-17G>A) c.3307-17G>A (n.3307-17G>A) c.2254-17G>A (n.2254-17G>A) c.3100-17G>A (n.3100-17G>A) c.2620-17G>A (n.2620-17G>A) | gnomAD v4 |
| 12 | g.47977447A>G | CA2575137224 | COL2A1 | c.2959-20T>C (n.2959-20T>C) c.3166-20T>C (n.3166-20T>C) n.2252-20T>C c.3310-20T>C (n.3310-20T>C) c.3307-20T>C (n.3307-20T>C) c.2254-20T>C (n.2254-20T>C) c.3100-20T>C (n.3100-20T>C) c.2620-20T>C (n.2620-20T>C) | gnomAD v4 |
| 12 | g.47977448G>T | CA2618511968 | COL2A1 | c.2959-21C>A (n.2959-21C>A) c.3166-21C>A (n.3166-21C>A) n.2252-21C>A c.3310-21C>A (n.3310-21C>A) c.3307-21C>A (n.3307-21C>A) c.2254-21C>A (n.2254-21C>A) c.3100-21C>A (n.3100-21C>A) c.2620-21C>A (n.2620-21C>A) | gnomAD v4 |
| 12 | g.47977449G>A | CA2618511978 | COL2A1 | c.2959-22C>T (n.2959-22C>T) c.3166-22C>T (n.3166-22C>T) n.2252-22C>T c.3310-22C>T (n.3310-22C>T) c.3307-22C>T (n.3307-22C>T) c.2254-22C>T (n.2254-22C>T) c.3100-22C>T (n.3100-22C>T) c.2620-22C>T (n.2620-22C>T) | gnomAD v4 |
| 12 | g.47977449G>T | CA654728246 | COL2A1 | c.2959-22C>A (n.2959-22C>A) c.3166-22C>A (n.3166-22C>A) n.2252-22C>A c.3310-22C>A (n.3310-22C>A) c.3307-22C>A (n.3307-22C>A) c.2254-22C>A (n.2254-22C>A) c.3100-22C>A (n.3100-22C>A) c.2620-22C>A (n.2620-22C>A) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47977450C>A | CA6534850 | COL2A1 | c.2959-23G>T (n.2959-23G>T) c.3166-23G>T (n.3166-23G>T) n.2252-23G>T c.3310-23G>T (n.3310-23G>T) c.3307-23G>T (n.3307-23G>T) c.2254-23G>T (n.2254-23G>T) c.3100-23G>T (n.3100-23G>T) c.2620-23G>T (n.2620-23G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977450C= | CA2034476424 | COL2A1 | c.2959-23G= (n.2959-23G=) c.3166-23G= (n.3166-23G=) n.2252-23G= c.3310-23G= (n.3310-23G=) c.3307-23G= (n.3307-23G=) c.2254-23G= (n.2254-23G=) c.3100-23G= (n.3100-23G=) c.2620-23G= (n.2620-23G=) | |
| 12 | g.47977450C>T | CA605231651 | COL2A1 | c.2959-23G>A (n.2959-23G>A) c.3166-23G>A (n.3166-23G>A) n.2252-23G>A c.3310-23G>A (n.3310-23G>A) c.3307-23G>A (n.3307-23G>A) c.2254-23G>A (n.2254-23G>A) c.3100-23G>A (n.3100-23G>A) c.2620-23G>A (n.2620-23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977450_47977451insACT | CA2795864096 | COL2A1 | c.2959-24_2959-23insAGT (n.2959-24_2959-23insAGT) c.3166-24_3166-23insAGT (n.3166-24_3166-23insAGT) n.2252-24_2252-23insAGT c.3310-24_3310-23insAGT (n.3310-24_3310-23insAGT) c.3307-24_3307-23insAGT (n.3307-24_3307-23insAGT) c.2254-24_2254-23insAGT (n.2254-24_2254-23insAGT) c.3100-24_3100-23insAGT (n.3100-24_3100-23insAGT) c.2620-24_2620-23insAGT (n.2620-24_2620-23insAGT) | |
| 12 | g.47977453A= | CA2034476425 | COL2A1 | c.2959-26T= (n.2959-26T=) c.3166-26T= (n.3166-26T=) n.2252-26T= c.3310-26T= (n.3310-26T=) c.3307-26T= (n.3307-26T=) c.2254-26T= (n.2254-26T=) c.3100-26T= (n.3100-26T=) c.2620-26T= (n.2620-26T=) | |
| 12 | g.47977453A>C | CA6534851 | COL2A1 | c.2959-26T>G (n.2959-26T>G) c.3166-26T>G (n.3166-26T>G) n.2252-26T>G c.3310-26T>G (n.3310-26T>G) c.3307-26T>G (n.3307-26T>G) c.2254-26T>G (n.2254-26T>G) c.3100-26T>G (n.3100-26T>G) c.2620-26T>G (n.2620-26T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977454G>T | CA2618511986 | COL2A1 | c.2959-27C>A (n.2959-27C>A) c.3166-27C>A (n.3166-27C>A) n.2252-27C>A c.3310-27C>A (n.3310-27C>A) c.3307-27C>A (n.3307-27C>A) c.2254-27C>A (n.2254-27C>A) c.3100-27C>A (n.3100-27C>A) c.2620-27C>A (n.2620-27C>A) | gnomAD v4 |
| 12 | g.47977455A= | CA2034476426 | COL2A1 | c.2959-28T= (n.2959-28T=) c.3166-28T= (n.3166-28T=) n.2252-28T= c.3310-28T= (n.3310-28T=) c.3307-28T= (n.3307-28T=) c.2254-28T= (n.2254-28T=) c.3100-28T= (n.3100-28T=) c.2620-28T= (n.2620-28T=) | |
| 12 | g.47977455A>G | CA2034476427 | COL2A1 | c.2959-28T>C (n.2959-28T>C) c.3166-28T>C (n.3166-28T>C) n.2252-28T>C c.3310-28T>C (n.3310-28T>C) c.3307-28T>C (n.3307-28T>C) c.2254-28T>C (n.2254-28T>C) c.3100-28T>C (n.3100-28T>C) c.2620-28T>C (n.2620-28T>C) | dbSNP gnomAD v4 |
| 12 | g.47977455A>T | CA2618511988 | COL2A1 | c.2959-28T>A (n.2959-28T>A) c.3166-28T>A (n.3166-28T>A) n.2252-28T>A c.3310-28T>A (n.3310-28T>A) c.3307-28T>A (n.3307-28T>A) c.2254-28T>A (n.2254-28T>A) c.3100-28T>A (n.3100-28T>A) c.2620-28T>A (n.2620-28T>A) | gnomAD v4 |