| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102978703C= | CA1185271893 | COL11A1 | c.2754+5G= (n.2754+5G=) c.2637+5G= (n.2637+5G=) c.2790+5G= (n.2790+5G=) c.2406+5G= (n.2406+5G=) c.2088+5G= c.987+5G= (n.987+5G=) c.342+5G= (n.342+5G=) n.3168+5G= n.3088+5G= c.2907+5G= (n.2907+5G=) c.2901+5G= (n.2901+5G=) c.1305+5G= (n.1305+5G=) n.3114+5G= | |
| 1 | g.102978703C>G | CA2646804908 | COL11A1 | c.2754+5G>C (n.2754+5G>C) c.2637+5G>C (n.2637+5G>C) c.2790+5G>C (n.2790+5G>C) c.2406+5G>C (n.2406+5G>C) c.2088+5G>C c.987+5G>C (n.987+5G>C) c.342+5G>C (n.342+5G>C) n.3168+5G>C n.3088+5G>C c.2907+5G>C (n.2907+5G>C) c.2901+5G>C (n.2901+5G>C) c.1305+5G>C (n.1305+5G>C) n.3114+5G>C | gnomAD v4 |
| 1 | g.102978703C>T | CA16043725 | COL11A1 | c.2754+5G>A (n.2754+5G>A) c.2637+5G>A (n.2637+5G>A) c.2790+5G>A (n.2790+5G>A) c.2406+5G>A (n.2406+5G>A) c.2088+5G>A c.987+5G>A (n.987+5G>A) c.342+5G>A (n.342+5G>A) n.3168+5G>A n.3088+5G>A c.2907+5G>A (n.2907+5G>A) c.2901+5G>A (n.2901+5G>A) c.1305+5G>A (n.1305+5G>A) n.3114+5G>A | ClinVar dbSNP |
| 1 | g.102978704G>A | CA974294 | COL11A1 | c.2754+4C>T (n.2754+4C>T) c.2637+4C>T (n.2637+4C>T) c.2790+4C>T (n.2790+4C>T) c.2406+4C>T (n.2406+4C>T) c.2088+4C>T c.987+4C>T (n.987+4C>T) c.342+4C>T (n.342+4C>T) n.3168+4C>T n.3088+4C>T c.2907+4C>T (n.2907+4C>T) c.2901+4C>T (n.2901+4C>T) c.1305+4C>T (n.1305+4C>T) n.3114+4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.102978704G= | CA1143466092 | COL11A1 | c.2754+4C= (n.2754+4C=) c.2637+4C= (n.2637+4C=) c.2790+4C= (n.2790+4C=) c.2406+4C= (n.2406+4C=) c.2088+4C= c.987+4C= (n.987+4C=) c.342+4C= (n.342+4C=) n.3168+4C= n.3088+4C= c.2907+4C= (n.2907+4C=) c.2901+4C= (n.2901+4C=) c.1305+4C= (n.1305+4C=) n.3114+4C= | |
| 1 | g.102978704G>T | CA2646804909 | COL11A1 | c.2754+4C>A (n.2754+4C>A) c.2637+4C>A (n.2637+4C>A) c.2790+4C>A (n.2790+4C>A) c.2406+4C>A (n.2406+4C>A) c.2088+4C>A c.987+4C>A (n.987+4C>A) c.342+4C>A (n.342+4C>A) n.3168+4C>A n.3088+4C>A c.2907+4C>A (n.2907+4C>A) c.2901+4C>A (n.2901+4C>A) c.1305+4C>A (n.1305+4C>A) n.3114+4C>A | gnomAD v4 |
| 1 | g.102978705T>C | CA2574449708 | COL11A1 | c.2754+3A>G (n.2754+3A>G) c.2637+3A>G (n.2637+3A>G) c.2790+3A>G (n.2790+3A>G) c.2406+3A>G (n.2406+3A>G) c.2088+3A>G c.987+3A>G (n.987+3A>G) c.342+3A>G (n.342+3A>G) n.3168+3A>G n.3088+3A>G c.2907+3A>G (n.2907+3A>G) c.2901+3A>G (n.2901+3A>G) c.1305+3A>G (n.1305+3A>G) n.3114+3A>G | ClinVar gnomAD v4 |
| 1 | g.102978706A>C | CA341162814 | COL11A1 | c.2754+2T>G (n.2754+2T>G) c.2637+2T>G (n.2637+2T>G) c.2790+2T>G (n.2790+2T>G) c.2406+2T>G (n.2406+2T>G) c.2088+2T>G c.987+2T>G (n.987+2T>G) c.342+2T>G (n.342+2T>G) n.3168+2T>G n.3088+2T>G c.2907+2T>G (n.2907+2T>G) c.2901+2T>G (n.2901+2T>G) c.1305+2T>G (n.1305+2T>G) n.3114+2T>G | |
| 1 | g.102978706A>G | CA341162817 | COL11A1 | c.2754+2T>C (n.2754+2T>C) c.2637+2T>C (n.2637+2T>C) c.2790+2T>C (n.2790+2T>C) c.2406+2T>C (n.2406+2T>C) c.2088+2T>C c.987+2T>C (n.987+2T>C) c.342+2T>C (n.342+2T>C) n.3168+2T>C n.3088+2T>C c.2907+2T>C (n.2907+2T>C) c.2901+2T>C (n.2901+2T>C) c.1305+2T>C (n.1305+2T>C) n.3114+2T>C | COSMIC COSMIC |
| 1 | g.102978706A>T | CA341162821 | COL11A1 | c.2754+2T>A (n.2754+2T>A) c.2637+2T>A (n.2637+2T>A) c.2790+2T>A (n.2790+2T>A) c.2406+2T>A (n.2406+2T>A) c.2088+2T>A c.987+2T>A (n.987+2T>A) c.342+2T>A (n.342+2T>A) n.3168+2T>A n.3088+2T>A c.2907+2T>A (n.2907+2T>A) c.2901+2T>A (n.2901+2T>A) c.1305+2T>A (n.1305+2T>A) n.3114+2T>A | |
| 1 | g.102978706_102978708delinsACT | CA1185271894 | COL11A1 | c.2754_2754+2delinsAGT c.2637_2637+2delinsAGT c.2790_2790+2delinsAGT c.2406_2406+2delinsAGT c.2088_2088+2delinsAGT c.987_987+2delinsAGT c.342_342+2delinsAGT n.3168_3168+2delinsAGT n.3088_3088+2delinsAGT c.2907_2907+2delinsAGT c.2901_2901+2delinsAGT c.1305_1305+2delinsAGT n.3114_3114+2delinsAGT | |
| 1 | g.102978707C>A | CA341162839 | COL11A1 | c.2754+1G>T (n.2754+1G>T) c.2637+1G>T (n.2637+1G>T) c.2790+1G>T (n.2790+1G>T) c.2406+1G>T (n.2406+1G>T) c.2088+1G>T c.987+1G>T (n.987+1G>T) c.342+1G>T (n.342+1G>T) n.3168+1G>T n.3088+1G>T c.2907+1G>T (n.2907+1G>T) c.2901+1G>T (n.2901+1G>T) c.1305+1G>T (n.1305+1G>T) n.3114+1G>T | |
| 1 | g.102978707C>G | CA341162832 | COL11A1 | c.2754+1G>C (n.2754+1G>C) c.2637+1G>C (n.2637+1G>C) c.2790+1G>C (n.2790+1G>C) c.2406+1G>C (n.2406+1G>C) c.2088+1G>C c.987+1G>C (n.987+1G>C) c.342+1G>C (n.342+1G>C) n.3168+1G>C n.3088+1G>C c.2907+1G>C (n.2907+1G>C) c.2901+1G>C (n.2901+1G>C) c.1305+1G>C (n.1305+1G>C) n.3114+1G>C | |
| 1 | g.102978707C>T | CA341162828 | COL11A1 | c.2754+1G>A (n.2754+1G>A) c.2637+1G>A (n.2637+1G>A) c.2790+1G>A (n.2790+1G>A) c.2406+1G>A (n.2406+1G>A) c.2088+1G>A c.987+1G>A (n.987+1G>A) c.342+1G>A (n.342+1G>A) n.3168+1G>A n.3088+1G>A c.2907+1G>A (n.2907+1G>A) c.2901+1G>A (n.2901+1G>A) c.1305+1G>A (n.1305+1G>A) n.3114+1G>A | |
| 1 | g.102978709_102978710del | CA341162825 | COL11A1 | c.2754_2754+1del c.2637_2637+1del c.2790_2790+1del c.2406_2406+1del c.2088_2088+1del c.987_987+1del c.342_342+1del n.3168_3168+1del n.3088_3088+1del c.2907_2907+1del c.2901_2901+1del c.1305_1305+1del n.3114_3114+1del | dbSNP |
| 1 | g.102978708T>A | CA341162840 | COL11A1 | c.2754A>T (p.Arg918Ser) c.2637A>T (p.Arg879Ser) c.2790A>T (p.Arg930Ser) c.2406A>T (p.Arg802Ser) c.2088A>T c.987A>T (p.Arg329Ser) c.342A>T (p.Arg114Ser) n.3168A>T n.3088A>T c.2907A>T (p.Arg969Ser) c.2901A>T (p.Arg967Ser) c.1305A>T (p.Arg435Ser) n.3114A>T | |
| 1 | g.102978708T>C | CA419199824 | COL11A1 | c.2754A>G (p.Arg918=) c.2637A>G (p.Arg879=) c.2790A>G (p.Arg930=) c.2406A>G (p.Arg802=) c.2088A>G c.987A>G (p.Arg329=) c.342A>G (p.Arg114=) n.3168A>G n.3088A>G c.2907A>G (p.Arg969=) c.2901A>G (p.Arg967=) c.1305A>G (p.Arg435=) n.3114A>G | |
| 1 | g.102978708T>G | CA341162841 | COL11A1 | c.2754A>C (p.Arg918Ser) c.2637A>C (p.Arg879Ser) c.2790A>C (p.Arg930Ser) c.2406A>C (p.Arg802Ser) c.2088A>C c.987A>C (p.Arg329Ser) c.342A>C (p.Arg114Ser) n.3168A>C n.3088A>C c.2907A>C (p.Arg969Ser) c.2901A>C (p.Arg967Ser) c.1305A>C (p.Arg435Ser) n.3114A>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.102978708T= | CA1185271895 | COL11A1 | c.2754A= (p.Arg918=) c.2637A= (p.Arg879=) c.2790A= (p.Arg930=) c.2406A= (p.Arg802=) c.2088A= c.987A= (p.Arg329=) c.342A= (p.Arg114=) n.3168A= n.3088A= c.2907A= (p.Arg969=) c.2901A= (p.Arg967=) c.1305A= (p.Arg435=) n.3114A= | |
| 1 | g.102978709C>A | CA341162842 | COL11A1 | c.2753G>T (p.Arg918Ile) c.2636G>T (p.Arg879Ile) c.2789G>T (p.Arg930Ile) c.2405G>T (p.Arg802Ile) c.2087G>T c.986G>T (p.Arg329Ile) c.341G>T (p.Arg114Ile) n.3167G>T n.3087G>T c.2906G>T (p.Arg969Ile) c.2900G>T (p.Arg967Ile) c.1304G>T (p.Arg435Ile) n.3113G>T | |
| 1 | g.102978709C>G | CA341162843 | COL11A1 | c.2753G>C (p.Arg918Thr) c.2636G>C (p.Arg879Thr) c.2789G>C (p.Arg930Thr) c.2405G>C (p.Arg802Thr) c.2087G>C c.986G>C (p.Arg329Thr) c.341G>C (p.Arg114Thr) n.3167G>C n.3087G>C c.2906G>C (p.Arg969Thr) c.2900G>C (p.Arg967Thr) c.1304G>C (p.Arg435Thr) n.3113G>C | COSMIC COSMIC |
| 1 | g.102978709C>T | CA341162845 | COL11A1 | c.2753G>A (p.Arg918Lys) c.2636G>A (p.Arg879Lys) c.2789G>A (p.Arg930Lys) c.2405G>A (p.Arg802Lys) c.2087G>A c.986G>A (p.Arg329Lys) c.341G>A (p.Arg114Lys) n.3167G>A n.3087G>A c.2906G>A (p.Arg969Lys) c.2900G>A (p.Arg967Lys) c.1304G>A (p.Arg435Lys) n.3113G>A | gnomAD v4 |
| 1 | g.102978710T>A | CA341162846 | COL11A1 | c.2752A>T (p.Arg918Ter) c.2635A>T (p.Arg879Ter) c.2788A>T (p.Arg930Ter) c.2404A>T (p.Arg802Ter) c.2086A>T c.985A>T (p.Arg329Ter) c.340A>T (p.Arg114Ter) n.3166A>T n.3086A>T c.2905A>T (p.Arg969Ter) c.2899A>T (p.Arg967Ter) c.1303A>T (p.Arg435Ter) n.3112A>T | |
| 1 | g.102978710T>C | CA341162849 | COL11A1 | c.2752A>G (p.Arg918Gly) c.2635A>G (p.Arg879Gly) c.2788A>G (p.Arg930Gly) c.2404A>G (p.Arg802Gly) c.2086A>G c.985A>G (p.Arg329Gly) c.340A>G (p.Arg114Gly) n.3166A>G n.3086A>G c.2905A>G (p.Arg969Gly) c.2899A>G (p.Arg967Gly) c.1303A>G (p.Arg435Gly) n.3112A>G | ClinVar dbSNP |
| 1 | g.102978710T>G | CA419199833 | COL11A1 | c.2752A>C (p.Arg918=) c.2635A>C (p.Arg879=) c.2788A>C (p.Arg930=) c.2404A>C (p.Arg802=) c.2086A>C c.985A>C (p.Arg329=) c.340A>C (p.Arg114=) n.3166A>C n.3086A>C c.2905A>C (p.Arg969=) c.2899A>C (p.Arg967=) c.1303A>C (p.Arg435=) n.3112A>C | |
| 1 | g.102978711T>A | CA341162853 | COL11A1 | c.2751A>T (p.Glu917Asp) c.2634A>T (p.Glu878Asp) c.2787A>T (p.Glu929Asp) c.2403A>T (p.Glu801Asp) c.2085A>T c.984A>T (p.Glu328Asp) c.339A>T (p.Glu113Asp) n.3165A>T n.3085A>T c.2904A>T (p.Glu968Asp) c.2898A>T (p.Glu966Asp) c.1302A>T (p.Glu434Asp) n.3111A>T | |
| 1 | g.102978711T>C | CA419199840 | COL11A1 | c.2751A>G (p.Glu917=) c.2634A>G (p.Glu878=) c.2787A>G (p.Glu929=) c.2403A>G (p.Glu801=) c.2085A>G c.984A>G (p.Glu328=) c.339A>G (p.Glu113=) n.3165A>G n.3085A>G c.2904A>G (p.Glu968=) c.2898A>G (p.Glu966=) c.1302A>G (p.Glu434=) n.3111A>G | COSMIC COSMIC |
| 1 | g.102978711T>G | CA341162856 | COL11A1 | c.2751A>C (p.Glu917Asp) c.2634A>C (p.Glu878Asp) c.2787A>C (p.Glu929Asp) c.2403A>C (p.Glu801Asp) c.2085A>C c.984A>C (p.Glu328Asp) c.339A>C (p.Glu113Asp) n.3165A>C n.3085A>C c.2904A>C (p.Glu968Asp) c.2898A>C (p.Glu966Asp) c.1302A>C (p.Glu434Asp) n.3111A>C | |
| 1 | g.102978712T>A | CA341162857 | COL11A1 | c.2750A>T (p.Glu917Val) c.2633A>T (p.Glu878Val) c.2786A>T (p.Glu929Val) c.2402A>T (p.Glu801Val) c.2084A>T c.983A>T (p.Glu328Val) c.338A>T (p.Glu113Val) n.3164A>T n.3084A>T c.2903A>T (p.Glu968Val) c.2897A>T (p.Glu966Val) c.1301A>T (p.Glu434Val) n.3110A>T | |
| 1 | g.102978712T>C | CA341162858 | COL11A1 | c.2750A>G (p.Glu917Gly) c.2633A>G (p.Glu878Gly) c.2786A>G (p.Glu929Gly) c.2402A>G (p.Glu801Gly) c.2084A>G c.983A>G (p.Glu328Gly) c.338A>G (p.Glu113Gly) n.3164A>G n.3084A>G c.2903A>G (p.Glu968Gly) c.2897A>G (p.Glu966Gly) c.1301A>G (p.Glu434Gly) n.3110A>G | |
| 1 | g.102978712T>G | CA341162859 | COL11A1 | c.2750A>C (p.Glu917Ala) c.2633A>C (p.Glu878Ala) c.2786A>C (p.Glu929Ala) c.2402A>C (p.Glu801Ala) c.2084A>C c.983A>C (p.Glu328Ala) c.338A>C (p.Glu113Ala) n.3164A>C n.3084A>C c.2903A>C (p.Glu968Ala) c.2897A>C (p.Glu966Ala) c.1301A>C (p.Glu434Ala) n.3110A>C | |
| 1 | g.102978713C>A | CA341162866 | COL11A1 | c.2749G>T (p.Glu917Ter) c.2632G>T (p.Glu878Ter) c.2785G>T (p.Glu929Ter) c.2401G>T (p.Glu801Ter) c.2083G>T c.982G>T (p.Glu328Ter) c.337G>T (p.Glu113Ter) n.3163G>T n.3083G>T c.2902G>T (p.Glu968Ter) c.2896G>T (p.Glu966Ter) c.1300G>T (p.Glu434Ter) n.3109G>T | COSMIC COSMIC |
| 1 | g.102978713C>G | CA341162864 | COL11A1 | c.2749G>C (p.Glu917Gln) c.2632G>C (p.Glu878Gln) c.2785G>C (p.Glu929Gln) c.2401G>C (p.Glu801Gln) c.2083G>C c.982G>C (p.Glu328Gln) c.337G>C (p.Glu113Gln) n.3163G>C n.3083G>C c.2902G>C (p.Glu968Gln) c.2896G>C (p.Glu966Gln) c.1300G>C (p.Glu434Gln) n.3109G>C | |
| 1 | g.102978713C>T | CA341162861 | COL11A1 | c.2749G>A (p.Glu917Lys) c.2632G>A (p.Glu878Lys) c.2785G>A (p.Glu929Lys) c.2401G>A (p.Glu801Lys) c.2083G>A c.982G>A (p.Glu328Lys) c.337G>A (p.Glu113Lys) n.3163G>A n.3083G>A c.2902G>A (p.Glu968Lys) c.2896G>A (p.Glu966Lys) c.1300G>A (p.Glu434Lys) n.3109G>A | |
| 1 | g.102978714A= | CA1185271896 | COL11A1 | c.2748T= (p.Gly916=) c.2631T= (p.Gly877=) c.2784T= (p.Gly928=) c.2400T= (p.Gly800=) c.2082T= c.981T= (p.Gly327=) c.336T= (p.Gly112=) n.3162T= n.3082T= c.2901T= (p.Gly967=) c.2895T= (p.Gly965=) c.1299T= (p.Gly433=) n.3108T= | |
| 1 | g.102978714A>C | CA419199850 | COL11A1 | c.2748T>G (p.Gly916=) c.2631T>G (p.Gly877=) c.2784T>G (p.Gly928=) c.2400T>G (p.Gly800=) c.2082T>G c.981T>G (p.Gly327=) c.336T>G (p.Gly112=) n.3162T>G n.3082T>G c.2901T>G (p.Gly967=) c.2895T>G (p.Gly965=) c.1299T>G (p.Gly433=) n.3108T>G | |
| 1 | g.102978714A>G | CA419199853 | COL11A1 | c.2748T>C (p.Gly916=) c.2631T>C (p.Gly877=) c.2784T>C (p.Gly928=) c.2400T>C (p.Gly800=) c.2082T>C c.981T>C (p.Gly327=) c.336T>C (p.Gly112=) n.3162T>C n.3082T>C c.2901T>C (p.Gly967=) c.2895T>C (p.Gly965=) c.1299T>C (p.Gly433=) n.3108T>C | |
| 1 | g.102978714A>T | CA419199855 | COL11A1 | c.2748T>A (p.Gly916=) c.2631T>A (p.Gly877=) c.2784T>A (p.Gly928=) c.2400T>A (p.Gly800=) c.2082T>A c.981T>A (p.Gly327=) c.336T>A (p.Gly112=) n.3162T>A n.3082T>A c.2901T>A (p.Gly967=) c.2895T>A (p.Gly965=) c.1299T>A (p.Gly433=) n.3108T>A | |
| 1 | g.102978715C>A | CA341162869 | COL11A1 | c.2747G>T (p.Gly916Val) c.2630G>T (p.Gly877Val) c.2783G>T (p.Gly928Val) c.2399G>T (p.Gly800Val) c.2081G>T c.980G>T (p.Gly327Val) c.335G>T (p.Gly112Val) n.3161G>T n.3081G>T c.2900G>T (p.Gly967Val) c.2894G>T (p.Gly965Val) c.1298G>T (p.Gly433Val) n.3107G>T | |
| 1 | g.102978715C>G | CA341162871 | COL11A1 | c.2747G>C (p.Gly916Ala) c.2630G>C (p.Gly877Ala) c.2783G>C (p.Gly928Ala) c.2399G>C (p.Gly800Ala) c.2081G>C c.980G>C (p.Gly327Ala) c.335G>C (p.Gly112Ala) n.3161G>C n.3081G>C c.2900G>C (p.Gly967Ala) c.2894G>C (p.Gly965Ala) c.1298G>C (p.Gly433Ala) n.3107G>C | |
| 1 | g.102978715C>T | CA341162873 | COL11A1 | c.2747G>A (p.Gly916Asp) c.2630G>A (p.Gly877Asp) c.2783G>A (p.Gly928Asp) c.2399G>A (p.Gly800Asp) c.2081G>A c.980G>A (p.Gly327Asp) c.335G>A (p.Gly112Asp) n.3161G>A n.3081G>A c.2900G>A (p.Gly967Asp) c.2894G>A (p.Gly965Asp) c.1298G>A (p.Gly433Asp) n.3107G>A | |
| 1 | g.102978717_102978725dup | CA1185271897 | COL11A1 | c.2739_2747dup (p.Gly916_Glu917insProProGly) c.2622_2630dup (p.Gly877_Glu878insProProGly) c.2775_2783dup (p.Gly928_Glu929insProProGly) c.2391_2399dup (p.Gly800_Glu801insProProGly) c.2073_2081dup c.972_980dup (p.Gly327_Glu328insProProGly) c.327_335dup (p.Gly112_Glu113insProProGly) n.3153_3161dup n.3073_3081dup c.2892_2900dup (p.Gly967_Glu968insProProGly) c.2886_2894dup (p.Gly965_Glu966insProProGly) c.1290_1298dup (p.Gly433_Glu434insProProGly) n.3099_3107dup | dbSNP |
| 1 | g.102978717_102978725del | CA2586967148 | COL11A1 | c.2739_2747del (p.Pro914_Gly916del) c.2622_2630del (p.Pro875_Gly877del) c.2775_2783del (p.Pro926_Gly928del) c.2391_2399del (p.Pro798_Gly800del) c.2073_2081del c.972_980del (p.Pro325_Gly327del) c.327_335del (p.Pro110_Gly112del) n.3153_3161del n.3073_3081del c.2892_2900del (p.Pro965_Gly967del) c.2886_2894del (p.Pro963_Gly965del) c.1290_1298del (p.Pro431_Gly433del) n.3099_3107del | |
| 1 | g.102978716C>A | CA341162875 | COL11A1 | c.2746G>T (p.Gly916Cys) c.2629G>T (p.Gly877Cys) c.2782G>T (p.Gly928Cys) c.2398G>T (p.Gly800Cys) c.2080G>T c.979G>T (p.Gly327Cys) c.334G>T (p.Gly112Cys) n.3160G>T n.3080G>T c.2899G>T (p.Gly967Cys) c.2893G>T (p.Gly965Cys) c.1297G>T (p.Gly433Cys) n.3106G>T | |
| 1 | g.102978716C>G | CA341162880 | COL11A1 | c.2746G>C (p.Gly916Arg) c.2629G>C (p.Gly877Arg) c.2782G>C (p.Gly928Arg) c.2398G>C (p.Gly800Arg) c.2080G>C c.979G>C (p.Gly327Arg) c.334G>C (p.Gly112Arg) n.3160G>C n.3080G>C c.2899G>C (p.Gly967Arg) c.2893G>C (p.Gly965Arg) c.1297G>C (p.Gly433Arg) n.3106G>C | |
| 1 | g.102978716C>T | CA341162883 | COL11A1 | c.2746G>A (p.Gly916Ser) c.2629G>A (p.Gly877Ser) c.2782G>A (p.Gly928Ser) c.2398G>A (p.Gly800Ser) c.2080G>A c.979G>A (p.Gly327Ser) c.334G>A (p.Gly112Ser) n.3160G>A n.3080G>A c.2899G>A (p.Gly967Ser) c.2893G>A (p.Gly965Ser) c.1297G>A (p.Gly433Ser) n.3106G>A | gnomAD v4 |
| 1 | g.102978717T>A | CA419199863 | COL11A1 | c.2745A>T (p.Pro915=) c.2628A>T (p.Pro876=) c.2781A>T (p.Pro927=) c.2397A>T (p.Pro799=) c.2079A>T c.978A>T (p.Pro326=) c.333A>T (p.Pro111=) n.3159A>T n.3079A>T c.2898A>T (p.Pro966=) c.2892A>T (p.Pro964=) c.1296A>T (p.Pro432=) n.3105A>T | |
| 1 | g.102978717T>C | CA27703130 | COL11A1 | c.2745A>G (p.Pro915=) c.2628A>G (p.Pro876=) c.2781A>G (p.Pro927=) c.2397A>G (p.Pro799=) c.2079A>G c.978A>G (p.Pro326=) c.333A>G (p.Pro111=) n.3159A>G n.3079A>G c.2898A>G (p.Pro966=) c.2892A>G (p.Pro964=) c.1296A>G (p.Pro432=) n.3105A>G | dbSNP |
| 1 | g.102978717T>G | CA419199865 | COL11A1 | c.2745A>C (p.Pro915=) c.2628A>C (p.Pro876=) c.2781A>C (p.Pro927=) c.2397A>C (p.Pro799=) c.2079A>C c.978A>C (p.Pro326=) c.333A>C (p.Pro111=) n.3159A>C n.3079A>C c.2898A>C (p.Pro966=) c.2892A>C (p.Pro964=) c.1296A>C (p.Pro432=) n.3105A>C | |
| 1 | g.102978717T= | CA1185271898 | COL11A1 | c.2745A= (p.Pro915=) c.2628A= (p.Pro876=) c.2781A= (p.Pro927=) c.2397A= (p.Pro799=) c.2079A= c.978A= (p.Pro326=) c.333A= (p.Pro111=) n.3159A= n.3079A= c.2898A= (p.Pro966=) c.2892A= (p.Pro964=) c.1296A= (p.Pro432=) n.3105A= |