| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977349T>A | CA384540158 | COL2A1 | c.3037A>T (p.Thr1013Ser) c.3244A>T (p.Thr1082Ser) n.2330A>T n.97A>T c.3388A>T (p.Thr1130Ser) c.3385A>T (p.Thr1129Ser) c.2332A>T (p.Thr778Ser) c.3178A>T (p.Thr1060Ser) c.2698A>T (p.Thr900Ser) | |
| 12 | g.47977349T>C | CA10637555 | COL2A1 | c.3037A>G (p.Thr1013Ala) c.3244A>G (p.Thr1082Ala) n.2330A>G n.97A>G c.3388A>G (p.Thr1130Ala) c.3385A>G (p.Thr1129Ala) c.2332A>G (p.Thr778Ala) c.3178A>G (p.Thr1060Ala) c.2698A>G (p.Thr900Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977349T>G | CA384540163 | COL2A1 | c.3037A>C (p.Thr1013Pro) c.3244A>C (p.Thr1082Pro) n.2330A>C n.97A>C c.3388A>C (p.Thr1130Pro) c.3385A>C (p.Thr1129Pro) c.2332A>C (p.Thr778Pro) c.3178A>C (p.Thr1060Pro) c.2698A>C (p.Thr900Pro) | |
| 12 | g.47977349T= | CA2034476383 | COL2A1 | c.3037A= (p.Thr1013=) c.3244A= (p.Thr1082=) n.2330A= n.97A= c.3388A= (p.Thr1130=) c.3385A= (p.Thr1129=) c.2332A= (p.Thr778=) c.3178A= (p.Thr1060=) c.2698A= (p.Thr900=) | |
| 12 | g.47977350T>A | CA479453754 | COL2A1 | c.3036A>T (p.Pro1012=) c.3243A>T (p.Pro1081=) n.2329A>T n.96A>T c.3387A>T (p.Pro1129=) c.3384A>T (p.Pro1128=) c.2331A>T (p.Pro777=) c.3177A>T (p.Pro1059=) c.2697A>T (p.Pro899=) | |
| 12 | g.47977350T>C | CA479453755 | COL2A1 | c.3036A>G (p.Pro1012=) c.3243A>G (p.Pro1081=) n.2329A>G n.96A>G c.3387A>G (p.Pro1129=) c.3384A>G (p.Pro1128=) c.2331A>G (p.Pro777=) c.3177A>G (p.Pro1059=) c.2697A>G (p.Pro899=) | |
| 12 | g.47977350T>G | CA479453757 | COL2A1 | c.3036A>C (p.Pro1012=) c.3243A>C (p.Pro1081=) n.2329A>C n.96A>C c.3387A>C (p.Pro1129=) c.3384A>C (p.Pro1128=) c.2331A>C (p.Pro777=) c.3177A>C (p.Pro1059=) c.2697A>C (p.Pro899=) | |
| 12 | g.47977351G>A | CA6534829 | COL2A1 | c.3035C>T (p.Pro1012Leu) c.3242C>T (p.Pro1081Leu) n.2328C>T n.95C>T c.3386C>T (p.Pro1129Leu) c.3383C>T (p.Pro1128Leu) c.2330C>T (p.Pro777Leu) c.3176C>T (p.Pro1059Leu) c.2696C>T (p.Pro899Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47977351G>C | CA384540166 | COL2A1 | c.3035C>G (p.Pro1012Arg) c.3242C>G (p.Pro1081Arg) n.2328C>G n.95C>G c.3386C>G (p.Pro1129Arg) c.3383C>G (p.Pro1128Arg) c.2330C>G (p.Pro777Arg) c.3176C>G (p.Pro1059Arg) c.2696C>G (p.Pro899Arg) | |
| 12 | g.47977351G= | CA2034476384 | COL2A1 | c.3035C= (p.Pro1012=) c.3242C= (p.Pro1081=) n.2328C= n.95C= c.3386C= (p.Pro1129=) c.3383C= (p.Pro1128=) c.2330C= (p.Pro777=) c.3176C= (p.Pro1059=) c.2696C= (p.Pro899=) | |
| 12 | g.47977351G>T | CA384540170 | COL2A1 | c.3035C>A (p.Pro1012Gln) c.3242C>A (p.Pro1081Gln) n.2328C>A n.95C>A c.3386C>A (p.Pro1129Gln) c.3383C>A (p.Pro1128Gln) c.2330C>A (p.Pro777Gln) c.3176C>A (p.Pro1059Gln) c.2696C>A (p.Pro899Gln) | gnomAD v4 |
| 12 | g.47977352G>A | CA6534830 | COL2A1 | c.3034C>T (p.Pro1012Ser) c.3241C>T (p.Pro1081Ser) n.2327C>T n.94C>T c.3385C>T (p.Pro1129Ser) c.3382C>T (p.Pro1128Ser) c.2329C>T (p.Pro777Ser) c.3175C>T (p.Pro1059Ser) c.2695C>T (p.Pro899Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47977352G>C | CA384540173 | COL2A1 | c.3034C>G (p.Pro1012Ala) c.3241C>G (p.Pro1081Ala) n.2327C>G n.94C>G c.3385C>G (p.Pro1129Ala) c.3382C>G (p.Pro1128Ala) c.2329C>G (p.Pro777Ala) c.3175C>G (p.Pro1059Ala) c.2695C>G (p.Pro899Ala) | gnomAD v4 |
| 12 | g.47977352G= | CA2034476385 | COL2A1 | c.3034C= (p.Pro1012=) c.3241C= (p.Pro1081=) n.2327C= n.94C= c.3385C= (p.Pro1129=) c.3382C= (p.Pro1128=) c.2329C= (p.Pro777=) c.3175C= (p.Pro1059=) c.2695C= (p.Pro899=) | |
| 12 | g.47977352G>T | CA384540174 | COL2A1 | c.3034C>A (p.Pro1012Thr) c.3241C>A (p.Pro1081Thr) n.2327C>A n.94C>A c.3385C>A (p.Pro1129Thr) c.3382C>A (p.Pro1128Thr) c.2329C>A (p.Pro777Thr) c.3175C>A (p.Pro1059Thr) c.2695C>A (p.Pro899Thr) | |
| 12 | g.47977353A= | CA2034476386 | COL2A1 | c.3033T= (p.Gly1011=) c.3240T= (p.Gly1080=) n.2326T= n.93T= c.3384T= (p.Gly1128=) c.3381T= (p.Gly1127=) c.2328T= (p.Gly776=) c.3174T= (p.Gly1058=) c.2694T= (p.Gly898=) | |
| 12 | g.47977353A>C | CA479453767 | COL2A1 | c.3033T>G (p.Gly1011=) c.3240T>G (p.Gly1080=) n.2326T>G n.93T>G c.3384T>G (p.Gly1128=) c.3381T>G (p.Gly1127=) c.2328T>G (p.Gly776=) c.3174T>G (p.Gly1058=) c.2694T>G (p.Gly898=) | dbSNP |
| 12 | g.47977353A>G | CA479453769 | COL2A1 | c.3033T>C (p.Gly1011=) c.3240T>C (p.Gly1080=) n.2326T>C n.93T>C c.3384T>C (p.Gly1128=) c.3381T>C (p.Gly1127=) c.2328T>C (p.Gly776=) c.3174T>C (p.Gly1058=) c.2694T>C (p.Gly898=) | |
| 12 | g.47977353A>T | CA479453771 | COL2A1 | c.3033T>A (p.Gly1011=) c.3240T>A (p.Gly1080=) n.2326T>A n.93T>A c.3384T>A (p.Gly1128=) c.3381T>A (p.Gly1127=) c.2328T>A (p.Gly776=) c.3174T>A (p.Gly1058=) c.2694T>A (p.Gly898=) | |
| 12 | g.47977354C>A | CA384540180 | COL2A1 | c.3032G>T (p.Gly1011Val) c.3239G>T (p.Gly1080Val) n.2325G>T n.92G>T c.3383G>T (p.Gly1128Val) c.3380G>T (p.Gly1127Val) c.2327G>T (p.Gly776Val) c.3173G>T (p.Gly1058Val) c.2693G>T (p.Gly898Val) | |
| 12 | g.47977354C>G | CA384540183 | COL2A1 | c.3032G>C (p.Gly1011Ala) c.3239G>C (p.Gly1080Ala) n.2325G>C n.92G>C c.3383G>C (p.Gly1128Ala) c.3380G>C (p.Gly1127Ala) c.2327G>C (p.Gly776Ala) c.3173G>C (p.Gly1058Ala) c.2693G>C (p.Gly898Ala) | |
| 12 | g.47977354C>T | CA384540186 | COL2A1 | c.3032G>A (p.Gly1011Asp) c.3239G>A (p.Gly1080Asp) n.2325G>A n.92G>A c.3383G>A (p.Gly1128Asp) c.3380G>A (p.Gly1127Asp) c.2327G>A (p.Gly776Asp) c.3173G>A (p.Gly1058Asp) c.2693G>A (p.Gly898Asp) | |
| 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 |