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.47978072_47978073insCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACC | CA2034476695 | COL2A1 | c.2872_2873insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly957_Leu958insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly) c.3079_3080insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1026_Leu1027insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly) n.2165_2166insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1074_Leu1075insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly) c.3220_3221insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1073_Leu1074insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly) c.2167_2168insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly722_Leu723insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly) c.3013_3014insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1004_Leu1005insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly) c.2533_2534insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly844_Leu845insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly) | ClinVar dbSNP |
| 12 | g.47978055_47978072del | CA645509321 | COL2A1 | c.2855_2872del (p.Pro952_Gly957del) c.3062_3079del (p.Pro1021_Gly1026del) n.2148_2165del c.3206_3223del (p.Pro1069_Gly1074del) c.3203_3220del (p.Pro1068_Gly1073del) c.2150_2167del (p.Pro717_Gly722del) c.2996_3013del (p.Pro999_Gly1004del) c.2516_2533del (p.Pro839_Gly844del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978065_47978074dup | CA2499221658 | COL2A1 | c.2840_2849dup (p.Gly951ArgfsTer17) c.3047_3056dup (p.Gly1020ArgfsTer17) n.2133_2142dup c.3191_3200dup (p.Gly1068ArgfsTer17) c.3188_3197dup (p.Gly1067ArgfsTer17) c.2135_2144dup (p.Gly716ArgfsTer17) c.2981_2990dup (p.Gly998ArgfsTer17) c.2501_2510dup (p.Gly838ArgfsTer17) | ClinVar dbSNP |
| 12 | g.47978069G>A | CA384540794 | COL2A1 | c.2845C>T (p.Pro949Ser) c.3052C>T (p.Pro1018Ser) n.2138C>T c.3196C>T (p.Pro1066Ser) c.3193C>T (p.Pro1065Ser) c.2140C>T (p.Pro714Ser) c.2986C>T (p.Pro996Ser) c.2506C>T (p.Pro836Ser) | |
| 12 | g.47978069G>C | CA384540796 | COL2A1 | c.2845C>G (p.Pro949Ala) c.3052C>G (p.Pro1018Ala) n.2138C>G c.3196C>G (p.Pro1066Ala) c.3193C>G (p.Pro1065Ala) c.2140C>G (p.Pro714Ala) c.2986C>G (p.Pro996Ala) c.2506C>G (p.Pro836Ala) | |
| 12 | g.47978069G>T | CA384540797 | COL2A1 | c.2845C>A (p.Pro949Thr) c.3052C>A (p.Pro1018Thr) n.2138C>A c.3196C>A (p.Pro1066Thr) c.3193C>A (p.Pro1065Thr) c.2140C>A (p.Pro714Thr) c.2986C>A (p.Pro996Thr) c.2506C>A (p.Pro836Thr) | |
| 12 | g.47978070A= | CA2034476706 | COL2A1 | c.2844T= (p.Gly948=) c.3051T= (p.Gly1017=) n.2137T= c.3195T= (p.Gly1065=) c.3192T= (p.Gly1064=) c.2139T= (p.Gly713=) c.2985T= (p.Gly995=) c.2505T= (p.Gly835=) | |
| 12 | g.47978070A>C | CA479455236 | COL2A1 | c.2844T>G (p.Gly948=) c.3051T>G (p.Gly1017=) n.2137T>G c.3195T>G (p.Gly1065=) c.3192T>G (p.Gly1064=) c.2139T>G (p.Gly713=) c.2985T>G (p.Gly995=) c.2505T>G (p.Gly835=) | dbSNP |
| 12 | g.47978070A>G | CA479455233 | COL2A1 | c.2844T>C (p.Gly948=) c.3051T>C (p.Gly1017=) n.2137T>C c.3195T>C (p.Gly1065=) c.3192T>C (p.Gly1064=) c.2139T>C (p.Gly713=) c.2985T>C (p.Gly995=) c.2505T>C (p.Gly835=) | dbSNP gnomAD v2 |
| 12 | g.47978070A>T | CA479455238 | COL2A1 | c.2844T>A (p.Gly948=) c.3051T>A (p.Gly1017=) n.2137T>A c.3195T>A (p.Gly1065=) c.3192T>A (p.Gly1064=) c.2139T>A (p.Gly713=) c.2985T>A (p.Gly995=) c.2505T>A (p.Gly835=) | |
| 12 | g.47978071C>A | CA384540799 | COL2A1 | c.2843G>T (p.Gly948Val) c.3050G>T (p.Gly1017Val) n.2136G>T c.3194G>T (p.Gly1065Val) c.3191G>T (p.Gly1064Val) c.2138G>T (p.Gly713Val) c.2984G>T (p.Gly995Val) c.2504G>T (p.Gly835Val) | |
| 12 | g.47978071C>G | CA384540802 | COL2A1 | c.2843G>C (p.Gly948Ala) c.3050G>C (p.Gly1017Ala) n.2136G>C c.3194G>C (p.Gly1065Ala) c.3191G>C (p.Gly1064Ala) c.2138G>C (p.Gly713Ala) c.2984G>C (p.Gly995Ala) c.2504G>C (p.Gly835Ala) | |
| 12 | g.47978071C>T | CA384540805 | COL2A1 | c.2843G>A (p.Gly948Asp) c.3050G>A (p.Gly1017Asp) n.2136G>A c.3194G>A (p.Gly1065Asp) c.3191G>A (p.Gly1064Asp) c.2138G>A (p.Gly713Asp) c.2984G>A (p.Gly995Asp) c.2504G>A (p.Gly835Asp) | ClinVar dbSNP |
| 12 | g.47978072del | CA2695216642 | COL2A1 | c.2843del (p.Gly948ValfsTer11) c.3050del (p.Gly1017ValfsTer11) n.2136del c.3194del (p.Gly1065ValfsTer11) c.3191del (p.Gly1064ValfsTer11) c.2138del (p.Gly713ValfsTer11) c.2984del (p.Gly995ValfsTer11) c.2504del (p.Gly835ValfsTer11) | |
| 12 | g.47978072C>A | CA384540808 | COL2A1 | c.2842G>T (p.Gly948Cys) c.3049G>T (p.Gly1017Cys) n.2135G>T c.3193G>T (p.Gly1065Cys) c.3190G>T (p.Gly1064Cys) c.2137G>T (p.Gly713Cys) c.2983G>T (p.Gly995Cys) c.2503G>T (p.Gly835Cys) | |
| 12 | g.47978072C>G | CA384540809 | COL2A1 | c.2842G>C (p.Gly948Arg) c.3049G>C (p.Gly1017Arg) n.2135G>C c.3193G>C (p.Gly1065Arg) c.3190G>C (p.Gly1064Arg) c.2137G>C (p.Gly713Arg) c.2983G>C (p.Gly995Arg) c.2503G>C (p.Gly835Arg) | |
| 12 | g.47978072C>T | CA384540811 | COL2A1 | c.2842G>A (p.Gly948Ser) c.3049G>A (p.Gly1017Ser) n.2135G>A c.3193G>A (p.Gly1065Ser) c.3190G>A (p.Gly1064Ser) c.2137G>A (p.Gly713Ser) c.2983G>A (p.Gly995Ser) c.2503G>A (p.Gly835Ser) | gnomAD v4 |
| 12 | g.47978073T>A | CA384540815 | COL2A1 | c.2841A>T (p.Arg947Ser) c.3048A>T (p.Arg1016Ser) n.2134A>T c.3192A>T (p.Arg1064Ser) c.3189A>T (p.Arg1063Ser) c.2136A>T (p.Arg712Ser) c.2982A>T (p.Arg994Ser) c.2502A>T (p.Arg834Ser) | |
| 12 | g.47978073T>C | CA479455262 | COL2A1 | c.2841A>G (p.Arg947=) c.3048A>G (p.Arg1016=) n.2134A>G c.3192A>G (p.Arg1064=) c.3189A>G (p.Arg1063=) c.2136A>G (p.Arg712=) c.2982A>G (p.Arg994=) c.2502A>G (p.Arg834=) | |
| 12 | g.47978073T>G | CA384540817 | COL2A1 | c.2841A>C (p.Arg947Ser) c.3048A>C (p.Arg1016Ser) n.2134A>C c.3192A>C (p.Arg1064Ser) c.3189A>C (p.Arg1063Ser) c.2136A>C (p.Arg712Ser) c.2982A>C (p.Arg994Ser) c.2502A>C (p.Arg834Ser) | |
| 12 | g.47978074C>A | CA236521586 | COL2A1 | c.2840G>T (p.Arg947Ile) c.3047G>T (p.Arg1016Ile) n.2133G>T c.3191G>T (p.Arg1064Ile) c.3188G>T (p.Arg1063Ile) c.2135G>T (p.Arg712Ile) c.2981G>T (p.Arg994Ile) c.2501G>T (p.Arg834Ile) | dbSNP gnomAD v4 |
| 12 | g.47978074C= | CA2034476707 | COL2A1 | c.2840G= (p.Arg947=) c.3047G= (p.Arg1016=) n.2133G= c.3191G= (p.Arg1064=) c.3188G= (p.Arg1063=) c.2135G= (p.Arg712=) c.2981G= (p.Arg994=) c.2501G= (p.Arg834=) | |
| 12 | g.47978074C>G | CA384540822 | COL2A1 | c.2840G>C (p.Arg947Thr) c.3047G>C (p.Arg1016Thr) n.2133G>C c.3191G>C (p.Arg1064Thr) c.3188G>C (p.Arg1063Thr) c.2135G>C (p.Arg712Thr) c.2981G>C (p.Arg994Thr) c.2501G>C (p.Arg834Thr) | |
| 12 | g.47978074C>T | CA6534909 | COL2A1 | c.2840G>A (p.Arg947Lys) c.3047G>A (p.Arg1016Lys) n.2133G>A c.3191G>A (p.Arg1064Lys) c.3188G>A (p.Arg1063Lys) c.2135G>A (p.Arg712Lys) c.2981G>A (p.Arg994Lys) c.2501G>A (p.Arg834Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978074_47978075insAA | CA645570663 | COL2A1 | c.2839_2840insTT (p.Arg947IlefsTer13) c.3046_3047insTT (p.Arg1016IlefsTer13) n.2132_2133insTT c.3190_3191insTT (p.Arg1064IlefsTer13) c.3187_3188insTT (p.Arg1063IlefsTer13) c.2134_2135insTT (p.Arg712IlefsTer13) c.2980_2981insTT (p.Arg994IlefsTer13) c.2500_2501insTT (p.Arg834IlefsTer13) | COSMIC COSMIC |
| 12 | g.47978075T>A | CA384540824 | COL2A1 | c.2839A>T (p.Arg947Ter) c.3046A>T (p.Arg1016Ter) n.2132A>T c.3190A>T (p.Arg1064Ter) c.3187A>T (p.Arg1063Ter) c.2134A>T (p.Arg712Ter) c.2980A>T (p.Arg994Ter) c.2500A>T (p.Arg834Ter) | |
| 12 | g.47978075T>C | CA384540826 | COL2A1 | c.2839A>G (p.Arg947Gly) c.3046A>G (p.Arg1016Gly) n.2132A>G c.3190A>G (p.Arg1064Gly) c.3187A>G (p.Arg1063Gly) c.2134A>G (p.Arg712Gly) c.2980A>G (p.Arg994Gly) c.2500A>G (p.Arg834Gly) | |
| 12 | g.47978075T>G | CA479455276 | COL2A1 | c.2839A>C (p.Arg947=) c.3046A>C (p.Arg1016=) n.2132A>C c.3190A>C (p.Arg1064=) c.3187A>C (p.Arg1063=) c.2134A>C (p.Arg712=) c.2980A>C (p.Arg994=) c.2500A>C (p.Arg834=) | |
| 12 | g.47978075dup | CA2695216643 | COL2A1 | c.2839dup (p.Arg947LysfsTer18) c.3046dup (p.Arg1016LysfsTer18) n.2132dup c.3190dup (p.Arg1064LysfsTer18) c.3187dup (p.Arg1063LysfsTer18) c.2134dup (p.Arg712LysfsTer18) c.2980dup (p.Arg994LysfsTer18) c.2500dup (p.Arg834LysfsTer18) | |
| 12 | g.47978076G>A | CA479455284 | COL2A1 | c.2838C>T (p.Asp946=) c.3045C>T (p.Asp1015=) n.2131C>T c.3189C>T (p.Asp1063=) c.3186C>T (p.Asp1062=) c.2133C>T (p.Asp711=) c.2979C>T (p.Asp993=) c.2499C>T (p.Asp833=) | ClinVar gnomAD v4 |
| 12 | g.47978076G>C | CA384540827 | COL2A1 | c.2838C>G (p.Asp946Glu) c.3045C>G (p.Asp1015Glu) n.2131C>G c.3189C>G (p.Asp1063Glu) c.3186C>G (p.Asp1062Glu) c.2133C>G (p.Asp711Glu) c.2979C>G (p.Asp993Glu) c.2499C>G (p.Asp833Glu) | gnomAD v4 |
| 12 | g.47978076G>T | CA384540828 | COL2A1 | c.2838C>A (p.Asp946Glu) c.3045C>A (p.Asp1015Glu) n.2131C>A c.3189C>A (p.Asp1063Glu) c.3186C>A (p.Asp1062Glu) c.2133C>A (p.Asp711Glu) c.2979C>A (p.Asp993Glu) c.2499C>A (p.Asp833Glu) | COSMIC COSMIC |
| 12 | g.47978077T>A | CA384540833 | COL2A1 | c.2837A>T (p.Asp946Val) c.3044A>T (p.Asp1015Val) n.2130A>T c.3188A>T (p.Asp1063Val) c.3185A>T (p.Asp1062Val) c.2132A>T (p.Asp711Val) c.2978A>T (p.Asp993Val) c.2498A>T (p.Asp833Val) | |
| 12 | g.47978077T>C | CA384540832 | COL2A1 | c.2837A>G (p.Asp946Gly) c.3044A>G (p.Asp1015Gly) n.2130A>G c.3188A>G (p.Asp1063Gly) c.3185A>G (p.Asp1062Gly) c.2132A>G (p.Asp711Gly) c.2978A>G (p.Asp993Gly) c.2498A>G (p.Asp833Gly) | |
| 12 | g.47978077T>G | CA384540831 | COL2A1 | c.2837A>C (p.Asp946Ala) c.3044A>C (p.Asp1015Ala) n.2130A>C c.3188A>C (p.Asp1063Ala) c.3185A>C (p.Asp1062Ala) c.2132A>C (p.Asp711Ala) c.2978A>C (p.Asp993Ala) c.2498A>C (p.Asp833Ala) | |
| 12 | g.47978078C>A | CA384540836 | COL2A1 | c.2836G>T (p.Asp946Tyr) c.3043G>T (p.Asp1015Tyr) n.2129G>T c.3187G>T (p.Asp1063Tyr) c.3184G>T (p.Asp1062Tyr) c.2131G>T (p.Asp711Tyr) c.2977G>T (p.Asp993Tyr) c.2497G>T (p.Asp833Tyr) | |
| 12 | g.47978078C= | CA2034476708 | COL2A1 | c.2836G= (p.Asp946=) c.3043G= (p.Asp1015=) n.2129G= c.3187G= (p.Asp1063=) c.3184G= (p.Asp1062=) c.2131G= (p.Asp711=) c.2977G= (p.Asp993=) c.2497G= (p.Asp833=) | |
| 12 | g.47978078C>G | CA384540837 | COL2A1 | c.2836G>C (p.Asp946His) c.3043G>C (p.Asp1015His) n.2129G>C c.3187G>C (p.Asp1063His) c.3184G>C (p.Asp1062His) c.2131G>C (p.Asp711His) c.2977G>C (p.Asp993His) c.2497G>C (p.Asp833His) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978078C>T | CA384540840 | COL2A1 | c.2836G>A (p.Asp946Asn) c.3043G>A (p.Asp1015Asn) n.2129G>A c.3187G>A (p.Asp1063Asn) c.3184G>A (p.Asp1062Asn) c.2131G>A (p.Asp711Asn) c.2977G>A (p.Asp993Asn) c.2497G>A (p.Asp833Asn) | COSMIC COSMIC |
| 12 | g.47978079T>A | CA479455299 | COL2A1 | c.2835A>T (p.Gly945=) c.3042A>T (p.Gly1014=) n.2128A>T c.3186A>T (p.Gly1062=) c.3183A>T (p.Gly1061=) c.2130A>T (p.Gly710=) c.2976A>T (p.Gly992=) c.2496A>T (p.Gly832=) | ClinVar gnomAD v4 |
| 12 | g.47978079T>C | CA479455303 | COL2A1 | c.2835A>G (p.Gly945=) c.3042A>G (p.Gly1014=) n.2128A>G c.3186A>G (p.Gly1062=) c.3183A>G (p.Gly1061=) c.2130A>G (p.Gly710=) c.2976A>G (p.Gly992=) c.2496A>G (p.Gly832=) | |
| 12 | g.47978079T>G | CA6534910 | COL2A1 | c.2835A>C (p.Gly945=) c.3042A>C (p.Gly1014=) n.2128A>C c.3186A>C (p.Gly1062=) c.3183A>C (p.Gly1061=) c.2130A>C (p.Gly710=) c.2976A>C (p.Gly992=) c.2496A>C (p.Gly832=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978079T= | CA2034476709 | COL2A1 | c.2835A= (p.Gly945=) c.3042A= (p.Gly1014=) n.2128A= c.3186A= (p.Gly1062=) c.3183A= (p.Gly1061=) c.2130A= (p.Gly710=) c.2976A= (p.Gly992=) c.2496A= (p.Gly832=) | |
| 12 | g.47978080C>A | CA384540844 | COL2A1 | c.2834G>T (p.Gly945Val) c.3041G>T (p.Gly1014Val) n.2127G>T c.3185G>T (p.Gly1062Val) c.3182G>T (p.Gly1061Val) c.2129G>T (p.Gly710Val) c.2975G>T (p.Gly992Val) c.2495G>T (p.Gly832Val) | |
| 12 | g.47978080C= | CA2034476710 | COL2A1 | c.2834G= (p.Gly945=) c.3041G= (p.Gly1014=) n.2127G= c.3185G= (p.Gly1062=) c.3182G= (p.Gly1061=) c.2129G= (p.Gly710=) c.2975G= (p.Gly992=) c.2495G= (p.Gly832=) | |
| 12 | g.47978080C>G | CA384540846 | COL2A1 | c.2834G>C (p.Gly945Ala) c.3041G>C (p.Gly1014Ala) n.2127G>C c.3185G>C (p.Gly1062Ala) c.3182G>C (p.Gly1061Ala) c.2129G>C (p.Gly710Ala) c.2975G>C (p.Gly992Ala) c.2495G>C (p.Gly832Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978080C>T | CA384540847 | COL2A1 | c.2834G>A (p.Gly945Glu) c.3041G>A (p.Gly1014Glu) n.2127G>A c.3185G>A (p.Gly1062Glu) c.3182G>A (p.Gly1061Glu) c.2129G>A (p.Gly710Glu) c.2975G>A (p.Gly992Glu) c.2495G>A (p.Gly832Glu) | |
| 12 | g.47978081C>A | CA384540852 | COL2A1 | c.2833G>T (p.Gly945Ter) c.3040G>T (p.Gly1014Ter) n.2126G>T c.3184G>T (p.Gly1062Ter) c.3181G>T (p.Gly1061Ter) c.2128G>T (p.Gly710Ter) c.2974G>T (p.Gly992Ter) c.2494G>T (p.Gly832Ter) | |
| 12 | g.47978081C>G | CA384540854 | COL2A1 | c.2833G>C (p.Gly945Arg) c.3040G>C (p.Gly1014Arg) n.2126G>C c.3184G>C (p.Gly1062Arg) c.3181G>C (p.Gly1061Arg) c.2128G>C (p.Gly710Arg) c.2974G>C (p.Gly992Arg) c.2494G>C (p.Gly832Arg) | |
| 12 | g.47978081C>T | CA384540849 | COL2A1 | c.2833G>A (p.Gly945Arg) c.3040G>A (p.Gly1014Arg) n.2126G>A c.3184G>A (p.Gly1062Arg) c.3181G>A (p.Gly1061Arg) c.2128G>A (p.Gly710Arg) c.2974G>A (p.Gly992Arg) c.2494G>A (p.Gly832Arg) | |
| 12 | g.47978082A>C | CA479455322 | COL2A1 | c.2832T>G (p.Ser944=) c.3039T>G (p.Ser1013=) n.2125T>G c.3183T>G (p.Ser1061=) c.3180T>G (p.Ser1060=) c.2127T>G (p.Ser709=) c.2973T>G (p.Ser991=) c.2493T>G (p.Ser831=) | |
| 12 | g.47978082A>G | CA479455325 | COL2A1 | c.2832T>C (p.Ser944=) c.3039T>C (p.Ser1013=) n.2125T>C c.3183T>C (p.Ser1061=) c.3180T>C (p.Ser1060=) c.2127T>C (p.Ser709=) c.2973T>C (p.Ser991=) c.2493T>C (p.Ser831=) | |
| 12 | g.47978082A>T | CA479455327 | COL2A1 | c.2832T>A (p.Ser944=) c.3039T>A (p.Ser1013=) n.2125T>A c.3183T>A (p.Ser1061=) c.3180T>A (p.Ser1060=) c.2127T>A (p.Ser709=) c.2973T>A (p.Ser991=) c.2493T>A (p.Ser831=) | |
| 12 | g.47978083G>A | CA384540858 | COL2A1 | c.2831C>T (p.Ser944Phe) c.3038C>T (p.Ser1013Phe) n.2124C>T c.3182C>T (p.Ser1061Phe) c.3179C>T (p.Ser1060Phe) c.2126C>T (p.Ser709Phe) c.2972C>T (p.Ser991Phe) c.2492C>T (p.Ser831Phe) | |
| 12 | g.47978083G>C | CA236521592 | COL2A1 | c.2831C>G (p.Ser944Cys) c.3038C>G (p.Ser1013Cys) n.2124C>G c.3182C>G (p.Ser1061Cys) c.3179C>G (p.Ser1060Cys) c.2126C>G (p.Ser709Cys) c.2972C>G (p.Ser991Cys) c.2492C>G (p.Ser831Cys) | dbSNP |
| 12 | g.47978083G= | CA2034476711 | COL2A1 | c.2831C= (p.Ser944=) c.3038C= (p.Ser1013=) n.2124C= c.3182C= (p.Ser1061=) c.3179C= (p.Ser1060=) c.2126C= (p.Ser709=) c.2972C= (p.Ser991=) c.2492C= (p.Ser831=) | |
| 12 | g.47978083G>T | CA384540859 | COL2A1 | c.2831C>A (p.Ser944Tyr) c.3038C>A (p.Ser1013Tyr) n.2124C>A c.3182C>A (p.Ser1061Tyr) c.3179C>A (p.Ser1060Tyr) c.2126C>A (p.Ser709Tyr) c.2972C>A (p.Ser991Tyr) c.2492C>A (p.Ser831Tyr) | |
| 12 | g.47978084A>C | CA384540862 | COL2A1 | c.2830T>G (p.Ser944Ala) c.3037T>G (p.Ser1013Ala) n.2123T>G c.3181T>G (p.Ser1061Ala) c.3178T>G (p.Ser1060Ala) c.2125T>G (p.Ser709Ala) c.2971T>G (p.Ser991Ala) c.2491T>G (p.Ser831Ala) | |
| 12 | g.47978084A>G | CA384540866 | COL2A1 | c.2830T>C (p.Ser944Pro) c.3037T>C (p.Ser1013Pro) n.2123T>C c.3181T>C (p.Ser1061Pro) c.3178T>C (p.Ser1060Pro) c.2125T>C (p.Ser709Pro) c.2971T>C (p.Ser991Pro) c.2491T>C (p.Ser831Pro) | |
| 12 | g.47978084A>T | CA384540863 | COL2A1 | c.2830T>A (p.Ser944Thr) c.3037T>A (p.Ser1013Thr) n.2123T>A c.3181T>A (p.Ser1061Thr) c.3178T>A (p.Ser1060Thr) c.2125T>A (p.Ser709Thr) c.2971T>A (p.Ser991Thr) c.2491T>A (p.Ser831Thr) | |
| 12 | g.47978085T>A | CA479455355 | COL2A1 | c.2829A>T (p.Ala943=) c.3036A>T (p.Ala1012=) n.2122A>T c.3180A>T (p.Ala1060=) c.3177A>T (p.Ala1059=) c.2124A>T (p.Ala708=) c.2970A>T (p.Ala990=) c.2490A>T (p.Ala830=) | |
| 12 | g.47978085T>C | CA479455343 | COL2A1 | c.2829A>G (p.Ala943=) c.3036A>G (p.Ala1012=) n.2122A>G c.3180A>G (p.Ala1060=) c.3177A>G (p.Ala1059=) c.2124A>G (p.Ala708=) c.2970A>G (p.Ala990=) c.2490A>G (p.Ala830=) | |
| 12 | g.47978085T>G | CA479455340 | COL2A1 | c.2829A>C (p.Ala943=) c.3036A>C (p.Ala1012=) n.2122A>C c.3180A>C (p.Ala1060=) c.3177A>C (p.Ala1059=) c.2124A>C (p.Ala708=) c.2970A>C (p.Ala990=) c.2490A>C (p.Ala830=) | |
| 12 | g.47978086G>A | CA384540868 | COL2A1 | c.2828C>T (p.Ala943Val) c.3035C>T (p.Ala1012Val) n.2121C>T c.3179C>T (p.Ala1060Val) c.3176C>T (p.Ala1059Val) c.2123C>T (p.Ala708Val) c.2969C>T (p.Ala990Val) c.2489C>T (p.Ala830Val) | |
| 12 | g.47978086G>C | CA384540873 | COL2A1 | c.2828C>G (p.Ala943Gly) c.3035C>G (p.Ala1012Gly) n.2121C>G c.3179C>G (p.Ala1060Gly) c.3176C>G (p.Ala1059Gly) c.2123C>G (p.Ala708Gly) c.2969C>G (p.Ala990Gly) c.2489C>G (p.Ala830Gly) | |
| 12 | g.47978086G>T | CA384540870 | COL2A1 | c.2828C>A (p.Ala943Glu) c.3035C>A (p.Ala1012Glu) n.2121C>A c.3179C>A (p.Ala1060Glu) c.3176C>A (p.Ala1059Glu) c.2123C>A (p.Ala708Glu) c.2969C>A (p.Ala990Glu) c.2489C>A (p.Ala830Glu) | gnomAD v4 |
| 12 | g.47978087C>A | CA384540876 | COL2A1 | c.2827G>T (p.Ala943Ser) c.3034G>T (p.Ala1012Ser) n.2120G>T c.3178G>T (p.Ala1060Ser) c.3175G>T (p.Ala1059Ser) c.2122G>T (p.Ala708Ser) c.2968G>T (p.Ala990Ser) c.2488G>T (p.Ala830Ser) | |
| 12 | g.47978087C>G | CA384540878 | COL2A1 | c.2827G>C (p.Ala943Pro) c.3034G>C (p.Ala1012Pro) n.2120G>C c.3178G>C (p.Ala1060Pro) c.3175G>C (p.Ala1059Pro) c.2122G>C (p.Ala708Pro) c.2968G>C (p.Ala990Pro) c.2488G>C (p.Ala830Pro) | gnomAD v4 |
| 12 | g.47978087C>T | CA384540881 | COL2A1 | c.2827G>A (p.Ala943Thr) c.3034G>A (p.Ala1012Thr) n.2120G>A c.3178G>A (p.Ala1060Thr) c.3175G>A (p.Ala1059Thr) c.2122G>A (p.Ala708Thr) c.2968G>A (p.Ala990Thr) c.2488G>A (p.Ala830Thr) | gnomAD v4 |
| 12 | g.47978088T>A | CA479455373 | COL2A1 | c.2826A>T (p.Gly942=) c.3033A>T (p.Gly1011=) n.2119A>T c.3177A>T (p.Gly1059=) c.3174A>T (p.Gly1058=) c.2121A>T (p.Gly707=) c.2967A>T (p.Gly989=) c.2487A>T (p.Gly829=) | |
| 12 | g.47978088T>C | CA479455377 | COL2A1 | c.2826A>G (p.Gly942=) c.3033A>G (p.Gly1011=) n.2119A>G c.3177A>G (p.Gly1059=) c.3174A>G (p.Gly1058=) c.2121A>G (p.Gly707=) c.2967A>G (p.Gly989=) c.2487A>G (p.Gly829=) | gnomAD v4 |
| 12 | g.47978088T>G | CA479455379 | COL2A1 | c.2826A>C (p.Gly942=) c.3033A>C (p.Gly1011=) n.2119A>C c.3177A>C (p.Gly1059=) c.3174A>C (p.Gly1058=) c.2121A>C (p.Gly707=) c.2967A>C (p.Gly989=) c.2487A>C (p.Gly829=) | |
| 12 | g.47978089C>A | CA384540883 | COL2A1 | c.2825G>T (p.Gly942Val) c.3032G>T (p.Gly1011Val) n.2118G>T c.3176G>T (p.Gly1059Val) c.3173G>T (p.Gly1058Val) c.2120G>T (p.Gly707Val) c.2966G>T (p.Gly989Val) c.2486G>T (p.Gly829Val) | |
| 12 | g.47978089C= | CA2034476712 | COL2A1 | c.2825G= (p.Gly942=) c.3032G= (p.Gly1011=) n.2118G= c.3176G= (p.Gly1059=) c.3173G= (p.Gly1058=) c.2120G= (p.Gly707=) c.2966G= (p.Gly989=) c.2486G= (p.Gly829=) | |
| 12 | g.47978089C>G | CA384540886 | COL2A1 | c.2825G>C (p.Gly942Ala) c.3032G>C (p.Gly1011Ala) n.2118G>C c.3176G>C (p.Gly1059Ala) c.3173G>C (p.Gly1058Ala) c.2120G>C (p.Gly707Ala) c.2966G>C (p.Gly989Ala) c.2486G>C (p.Gly829Ala) | |
| 12 | g.47978089C>T | CA384540888 | COL2A1 | c.2825G>A (p.Gly942Glu) c.3032G>A (p.Gly1011Glu) n.2118G>A c.3176G>A (p.Gly1059Glu) c.3173G>A (p.Gly1058Glu) c.2120G>A (p.Gly707Glu) c.2966G>A (p.Gly989Glu) c.2486G>A (p.Gly829Glu) | dbSNP gnomAD v2 |
| 12 | g.47978090C>A | CA384540890 | COL2A1 | c.2824G>T (p.Gly942Ter) c.3031G>T (p.Gly1011Ter) n.2117G>T c.3175G>T (p.Gly1059Ter) c.3172G>T (p.Gly1058Ter) c.2119G>T (p.Gly707Ter) c.2965G>T (p.Gly989Ter) c.2485G>T (p.Gly829Ter) | |
| 12 | g.47978090C>G | CA384540891 | COL2A1 | c.2824G>C (p.Gly942Arg) c.3031G>C (p.Gly1011Arg) n.2117G>C c.3175G>C (p.Gly1059Arg) c.3172G>C (p.Gly1058Arg) c.2119G>C (p.Gly707Arg) c.2965G>C (p.Gly989Arg) c.2485G>C (p.Gly829Arg) | |
| 12 | g.47978090C>T | CA384540892 | COL2A1 | c.2824G>A (p.Gly942Arg) c.3031G>A (p.Gly1011Arg) n.2117G>A c.3175G>A (p.Gly1059Arg) c.3172G>A (p.Gly1058Arg) c.2119G>A (p.Gly707Arg) c.2965G>A (p.Gly989Arg) c.2485G>A (p.Gly829Arg) | |
| 12 | g.47978091A>C | CA479455401 | COL2A1 | c.2823T>G (p.Pro941=) c.3030T>G (p.Pro1010=) n.2116T>G c.3174T>G (p.Pro1058=) c.3171T>G (p.Pro1057=) c.2118T>G (p.Pro706=) c.2964T>G (p.Pro988=) c.2484T>G (p.Pro828=) | |
| 12 | g.47978091A>G | CA479455404 | COL2A1 | c.2823T>C (p.Pro941=) c.3030T>C (p.Pro1010=) n.2116T>C c.3174T>C (p.Pro1058=) c.3171T>C (p.Pro1057=) c.2118T>C (p.Pro706=) c.2964T>C (p.Pro988=) c.2484T>C (p.Pro828=) | |
| 12 | g.47978091A>T | CA479455406 | COL2A1 | c.2823T>A (p.Pro941=) c.3030T>A (p.Pro1010=) n.2116T>A c.3174T>A (p.Pro1058=) c.3171T>A (p.Pro1057=) c.2118T>A (p.Pro706=) c.2964T>A (p.Pro988=) c.2484T>A (p.Pro828=) | |
| 12 | g.47978092G>A | CA384540893 | COL2A1 | c.2822C>T (p.Pro941Leu) c.3029C>T (p.Pro1010Leu) n.2115C>T c.3173C>T (p.Pro1058Leu) c.3170C>T (p.Pro1057Leu) c.2117C>T (p.Pro706Leu) c.2963C>T (p.Pro988Leu) c.2483C>T (p.Pro828Leu) | |
| 12 | g.47978092G>C | CA384540894 | COL2A1 | c.2822C>G (p.Pro941Arg) c.3029C>G (p.Pro1010Arg) n.2115C>G c.3173C>G (p.Pro1058Arg) c.3170C>G (p.Pro1057Arg) c.2117C>G (p.Pro706Arg) c.2963C>G (p.Pro988Arg) c.2483C>G (p.Pro828Arg) | |
| 12 | g.47978092G>T | CA384540895 | COL2A1 | c.2822C>A (p.Pro941His) c.3029C>A (p.Pro1010His) n.2115C>A c.3173C>A (p.Pro1058His) c.3170C>A (p.Pro1057His) c.2117C>A (p.Pro706His) c.2963C>A (p.Pro988His) c.2483C>A (p.Pro828His) | |
| 12 | g.47978093G>A | CA384540898 | COL2A1 | c.2821C>T (p.Pro941Ser) c.3028C>T (p.Pro1010Ser) n.2114C>T c.3172C>T (p.Pro1058Ser) c.3169C>T (p.Pro1057Ser) c.2116C>T (p.Pro706Ser) c.2962C>T (p.Pro988Ser) c.2482C>T (p.Pro828Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978093G>C | CA384540907 | COL2A1 | c.2821C>G (p.Pro941Ala) c.3028C>G (p.Pro1010Ala) n.2114C>G c.3172C>G (p.Pro1058Ala) c.3169C>G (p.Pro1057Ala) c.2116C>G (p.Pro706Ala) c.2962C>G (p.Pro988Ala) c.2482C>G (p.Pro828Ala) | |
| 12 | g.47978093G= | CA2034476713 | COL2A1 | c.2821C= (p.Pro941=) c.3028C= (p.Pro1010=) n.2114C= c.3172C= (p.Pro1058=) c.3169C= (p.Pro1057=) c.2116C= (p.Pro706=) c.2962C= (p.Pro988=) c.2482C= (p.Pro828=) | |
| 12 | g.47978093G>T | CA384540905 | COL2A1 | c.2821C>A (p.Pro941Thr) c.3028C>A (p.Pro1010Thr) n.2114C>A c.3172C>A (p.Pro1058Thr) c.3169C>A (p.Pro1057Thr) c.2116C>A (p.Pro706Thr) c.2962C>A (p.Pro988Thr) c.2482C>A (p.Pro828Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978094A>C | CA479455422 | COL2A1 | c.2820T>G (p.Ala940=) c.3027T>G (p.Ala1009=) n.2113T>G c.3171T>G (p.Ala1057=) c.3168T>G (p.Ala1056=) c.2115T>G (p.Ala705=) c.2961T>G (p.Ala987=) c.2481T>G (p.Ala827=) | |
| 12 | g.47978094A>G | CA479455426 | COL2A1 | c.2820T>C (p.Ala940=) c.3027T>C (p.Ala1009=) n.2113T>C c.3171T>C (p.Ala1057=) c.3168T>C (p.Ala1056=) c.2115T>C (p.Ala705=) c.2961T>C (p.Ala987=) c.2481T>C (p.Ala827=) | |
| 12 | g.47978094A>T | CA479455428 | COL2A1 | c.2820T>A (p.Ala940=) c.3027T>A (p.Ala1009=) n.2113T>A c.3171T>A (p.Ala1057=) c.3168T>A (p.Ala1056=) c.2115T>A (p.Ala705=) c.2961T>A (p.Ala987=) c.2481T>A (p.Ala827=) | |
| 12 | g.47978095G>A | CA384540910 | COL2A1 | c.2819C>T (p.Ala940Val) c.3026C>T (p.Ala1009Val) n.2112C>T c.3170C>T (p.Ala1057Val) c.3167C>T (p.Ala1056Val) c.2114C>T (p.Ala705Val) c.2960C>T (p.Ala987Val) c.2480C>T (p.Ala827Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978095G>C | CA384540912 | COL2A1 | c.2819C>G (p.Ala940Gly) c.3026C>G (p.Ala1009Gly) n.2112C>G c.3170C>G (p.Ala1057Gly) c.3167C>G (p.Ala1056Gly) c.2114C>G (p.Ala705Gly) c.2960C>G (p.Ala987Gly) c.2480C>G (p.Ala827Gly) | |
| 12 | g.47978095G= | CA2034476714 | COL2A1 | c.2819C= (p.Ala940=) c.3026C= (p.Ala1009=) n.2112C= c.3170C= (p.Ala1057=) c.3167C= (p.Ala1056=) c.2114C= (p.Ala705=) c.2960C= (p.Ala987=) c.2480C= (p.Ala827=) | |
| 12 | g.47978095G>T | CA384540914 | COL2A1 | c.2819C>A (p.Ala940Asp) c.3026C>A (p.Ala1009Asp) n.2112C>A c.3170C>A (p.Ala1057Asp) c.3167C>A (p.Ala1056Asp) c.2114C>A (p.Ala705Asp) c.2960C>A (p.Ala987Asp) c.2480C>A (p.Ala827Asp) | |
| 12 | g.47978096C>A | CA384540916 | COL2A1 | c.2818G>T (p.Ala940Ser) c.3025G>T (p.Ala1009Ser) n.2111G>T c.3169G>T (p.Ala1057Ser) c.3166G>T (p.Ala1056Ser) c.2113G>T (p.Ala705Ser) c.2959G>T (p.Ala987Ser) c.2479G>T (p.Ala827Ser) | |
| 12 | g.47978096C>G | CA384540919 | COL2A1 | c.2818G>C (p.Ala940Pro) c.3025G>C (p.Ala1009Pro) n.2111G>C c.3169G>C (p.Ala1057Pro) c.3166G>C (p.Ala1056Pro) c.2113G>C (p.Ala705Pro) c.2959G>C (p.Ala987Pro) c.2479G>C (p.Ala827Pro) | |
| 12 | g.47978096C>T | CA384540921 | COL2A1 | c.2818G>A (p.Ala940Thr) c.3025G>A (p.Ala1009Thr) n.2111G>A c.3169G>A (p.Ala1057Thr) c.3166G>A (p.Ala1056Thr) c.2113G>A (p.Ala705Thr) c.2959G>A (p.Ala987Thr) c.2479G>A (p.Ala827Thr) | |
| 12 | g.47978097A>C | CA479455453 | COL2A1 | c.2817T>G (p.Gly939=) c.3024T>G (p.Gly1008=) n.2110T>G c.3168T>G (p.Gly1056=) c.3165T>G (p.Gly1055=) c.2112T>G (p.Gly704=) c.2958T>G (p.Gly986=) c.2478T>G (p.Gly826=) | |
| 12 | g.47978097A>G | CA479455454 | COL2A1 | c.2817T>C (p.Gly939=) c.3024T>C (p.Gly1008=) n.2110T>C c.3168T>C (p.Gly1056=) c.3165T>C (p.Gly1055=) c.2112T>C (p.Gly704=) c.2958T>C (p.Gly986=) c.2478T>C (p.Gly826=) | |
| 12 | g.47978097A>T | CA479455455 | COL2A1 | c.2817T>A (p.Gly939=) c.3024T>A (p.Gly1008=) n.2110T>A c.3168T>A (p.Gly1056=) c.3165T>A (p.Gly1055=) c.2112T>A (p.Gly704=) c.2958T>A (p.Gly986=) c.2478T>A (p.Gly826=) | |
| 12 | g.47978098C>A | CA16043471 | COL2A1 | c.2816G>T (p.Gly939Val) c.3023G>T (p.Gly1008Val) n.2109G>T c.3167G>T (p.Gly1056Val) c.3164G>T (p.Gly1055Val) c.2111G>T (p.Gly704Val) c.2957G>T (p.Gly986Val) c.2477G>T (p.Gly826Val) | ClinVar dbSNP |
| 12 | g.47978098C= | CA2034476715 | COL2A1 | c.2816G= (p.Gly939=) c.3023G= (p.Gly1008=) n.2109G= c.3167G= (p.Gly1056=) c.3164G= (p.Gly1055=) c.2111G= (p.Gly704=) c.2957G= (p.Gly986=) c.2477G= (p.Gly826=) | |
| 12 | g.47978098C>G | CA384540924 | COL2A1 | c.2816G>C (p.Gly939Ala) c.3023G>C (p.Gly1008Ala) n.2109G>C c.3167G>C (p.Gly1056Ala) c.3164G>C (p.Gly1055Ala) c.2111G>C (p.Gly704Ala) c.2957G>C (p.Gly986Ala) c.2477G>C (p.Gly826Ala) | |
| 12 | g.47978098C>T | CA6534911 | COL2A1 | c.2816G>A (p.Gly939Asp) c.3023G>A (p.Gly1008Asp) n.2109G>A c.3167G>A (p.Gly1056Asp) c.3164G>A (p.Gly1055Asp) c.2111G>A (p.Gly704Asp) c.2957G>A (p.Gly986Asp) c.2477G>A (p.Gly826Asp) | dbSNP ExAC gnomAD v2 |
| 12 | g.47978100dup | CA2695216645 | COL2A1 | c.2816dup (p.Ala940CysfsTer25) c.3023dup (p.Ala1009CysfsTer25) n.2109dup c.3167dup (p.Ala1057CysfsTer25) c.3164dup (p.Ala1056CysfsTer25) c.2111dup (p.Ala705CysfsTer25) c.2957dup (p.Ala987CysfsTer25) c.2477dup (p.Ala827CysfsTer25) | |
| 12 | g.47978100del | CA2695216644 | COL2A1 | c.2816del (p.Gly939ValfsTer20) c.3023del (p.Gly1008ValfsTer20) n.2109del c.3167del (p.Gly1056ValfsTer20) c.3164del (p.Gly1055ValfsTer20) c.2111del (p.Gly704ValfsTer20) c.2957del (p.Gly986ValfsTer20) c.2477del (p.Gly826ValfsTer20) | |
| 12 | g.47978099C>A | CA384540933 | COL2A1 | c.2815G>T (p.Gly939Cys) c.3022G>T (p.Gly1008Cys) n.2108G>T c.3166G>T (p.Gly1056Cys) c.3163G>T (p.Gly1055Cys) c.2110G>T (p.Gly704Cys) c.2956G>T (p.Gly986Cys) c.2476G>T (p.Gly826Cys) | ClinVar dbSNP |
| 12 | g.47978099C>G | CA384540932 | COL2A1 | c.2815G>C (p.Gly939Arg) c.3022G>C (p.Gly1008Arg) n.2108G>C c.3166G>C (p.Gly1056Arg) c.3163G>C (p.Gly1055Arg) c.2110G>C (p.Gly704Arg) c.2956G>C (p.Gly986Arg) c.2476G>C (p.Gly826Arg) | |
| 12 | g.47978099C>T | CA384540930 | COL2A1 | c.2815G>A (p.Gly939Ser) c.3022G>A (p.Gly1008Ser) n.2108G>A c.3166G>A (p.Gly1056Ser) c.3163G>A (p.Gly1055Ser) c.2110G>A (p.Gly704Ser) c.2956G>A (p.Gly986Ser) c.2476G>A (p.Gly826Ser) | |
| 12 | g.47978099_47978100insT | CA2795861519 | COL2A1 | c.2814_2815insA (p.Gly939ArgfsTer26) c.3021_3022insA (p.Gly1008ArgfsTer26) n.2107_2108insA c.3165_3166insA (p.Gly1056ArgfsTer26) c.3162_3163insA (p.Gly1055ArgfsTer26) c.2109_2110insA (p.Gly704ArgfsTer26) c.2955_2956insA (p.Gly986ArgfsTer26) c.2475_2476insA (p.Gly826ArgfsTer26) | |
| 12 | g.47978100C>A | CA384540937 | COL2A1 | c.2814G>T (p.Gln938His) c.3021G>T (p.Gln1007His) n.2107G>T c.3165G>T (p.Gln1055His) c.3162G>T (p.Gln1054His) c.2109G>T (p.Gln703His) c.2955G>T (p.Gln985His) c.2475G>T (p.Gln825His) | |
| 12 | g.47978100C>G | CA384540939 | COL2A1 | c.2814G>C (p.Gln938His) c.3021G>C (p.Gln1007His) n.2107G>C c.3165G>C (p.Gln1055His) c.3162G>C (p.Gln1054His) c.2109G>C (p.Gln703His) c.2955G>C (p.Gln985His) c.2475G>C (p.Gln825His) | |
| 12 | g.47978100C>T | CA479455482 | COL2A1 | c.2814G>A (p.Gln938=) c.3021G>A (p.Gln1007=) n.2107G>A c.3165G>A (p.Gln1055=) c.3162G>A (p.Gln1054=) c.2109G>A (p.Gln703=) c.2955G>A (p.Gln985=) c.2475G>A (p.Gln825=) | ClinVar |
| 12 | g.47978101T>A | CA384540941 | COL2A1 | c.2813A>T (p.Gln938Leu) c.3020A>T (p.Gln1007Leu) n.2106A>T c.3164A>T (p.Gln1055Leu) c.3161A>T (p.Gln1054Leu) c.2108A>T (p.Gln703Leu) c.2954A>T (p.Gln985Leu) c.2474A>T (p.Gln825Leu) | |
| 12 | g.47978101T>C | CA384540943 | COL2A1 | c.2813A>G (p.Gln938Arg) c.3020A>G (p.Gln1007Arg) n.2106A>G c.3164A>G (p.Gln1055Arg) c.3161A>G (p.Gln1054Arg) c.2108A>G (p.Gln703Arg) c.2954A>G (p.Gln985Arg) c.2474A>G (p.Gln825Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978101T>G | CA236521604 | COL2A1 | c.2813A>C (p.Gln938Pro) c.3020A>C (p.Gln1007Pro) n.2106A>C c.3164A>C (p.Gln1055Pro) c.3161A>C (p.Gln1054Pro) c.2108A>C (p.Gln703Pro) c.2954A>C (p.Gln985Pro) c.2474A>C (p.Gln825Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978101T= | CA2034476716 | COL2A1 | c.2813A= (p.Gln938=) c.3020A= (p.Gln1007=) n.2106A= c.3164A= (p.Gln1055=) c.3161A= (p.Gln1054=) c.2108A= (p.Gln703=) c.2954A= (p.Gln985=) c.2474A= (p.Gln825=) | |
| 12 | g.47978102G>A | CA384540946 | COL2A1 | c.2812C>T (p.Gln938Ter) c.3019C>T (p.Gln1007Ter) n.2105C>T c.3163C>T (p.Gln1055Ter) c.3160C>T (p.Gln1054Ter) c.2107C>T (p.Gln703Ter) c.2953C>T (p.Gln985Ter) c.2473C>T (p.Gln825Ter) | |
| 12 | g.47978102G>C | CA384540948 | COL2A1 | c.2812C>G (p.Gln938Glu) c.3019C>G (p.Gln1007Glu) n.2105C>G c.3163C>G (p.Gln1055Glu) c.3160C>G (p.Gln1054Glu) c.2107C>G (p.Gln703Glu) c.2953C>G (p.Gln985Glu) c.2473C>G (p.Gln825Glu) | |
| 12 | g.47978102G>T | CA384540950 | COL2A1 | c.2812C>A (p.Gln938Lys) c.3019C>A (p.Gln1007Lys) n.2105C>A c.3163C>A (p.Gln1055Lys) c.3160C>A (p.Gln1054Lys) c.2107C>A (p.Gln703Lys) c.2953C>A (p.Gln985Lys) c.2473C>A (p.Gln825Lys) | |
| 12 | g.47978103C>A | CA384540953 | COL2A1 | c.2811G>T (p.Lys937Asn) c.3018G>T (p.Lys1006Asn) n.2104G>T c.3162G>T (p.Lys1054Asn) c.3159G>T (p.Lys1053Asn) c.2106G>T (p.Lys702Asn) c.2952G>T (p.Lys984Asn) c.2472G>T (p.Lys824Asn) | gnomAD v4 |
| 12 | g.47978103C>G | CA384540954 | COL2A1 | c.2811G>C (p.Lys937Asn) c.3018G>C (p.Lys1006Asn) n.2104G>C c.3162G>C (p.Lys1054Asn) c.3159G>C (p.Lys1053Asn) c.2106G>C (p.Lys702Asn) c.2952G>C (p.Lys984Asn) c.2472G>C (p.Lys824Asn) | |
| 12 | g.47978103C>T | CA479455509 | COL2A1 | c.2811G>A (p.Lys937=) c.3018G>A (p.Lys1006=) n.2104G>A c.3162G>A (p.Lys1054=) c.3159G>A (p.Lys1053=) c.2106G>A (p.Lys702=) c.2952G>A (p.Lys984=) c.2472G>A (p.Lys824=) | |
| 12 | g.47978104T>A | CA384540957 | COL2A1 | c.2810A>T (p.Lys937Met) c.3017A>T (p.Lys1006Met) n.2103A>T c.3161A>T (p.Lys1054Met) c.3158A>T (p.Lys1053Met) c.2105A>T (p.Lys702Met) c.2951A>T (p.Lys984Met) c.2471A>T (p.Lys824Met) | |
| 12 | g.47978104T>C | CA384540958 | COL2A1 | c.2810A>G (p.Lys937Arg) c.3017A>G (p.Lys1006Arg) n.2103A>G c.3161A>G (p.Lys1054Arg) c.3158A>G (p.Lys1053Arg) c.2105A>G (p.Lys702Arg) c.2951A>G (p.Lys984Arg) c.2471A>G (p.Lys824Arg) | |
| 12 | g.47978104T>G | CA384540960 | COL2A1 | c.2810A>C (p.Lys937Thr) c.3017A>C (p.Lys1006Thr) n.2103A>C c.3161A>C (p.Lys1054Thr) c.3158A>C (p.Lys1053Thr) c.2105A>C (p.Lys702Thr) c.2951A>C (p.Lys984Thr) c.2471A>C (p.Lys824Thr) | |
| 12 | g.47978105T>A | CA384540963 | COL2A1 | c.2809A>T (p.Lys937Ter) c.3016A>T (p.Lys1006Ter) n.2102A>T c.3160A>T (p.Lys1054Ter) c.3157A>T (p.Lys1053Ter) c.2104A>T (p.Lys702Ter) c.2950A>T (p.Lys984Ter) c.2470A>T (p.Lys824Ter) | |
| 12 | g.47978105T>C | CA384540968 | COL2A1 | c.2809A>G (p.Lys937Glu) c.3016A>G (p.Lys1006Glu) n.2102A>G c.3160A>G (p.Lys1054Glu) c.3157A>G (p.Lys1053Glu) c.2104A>G (p.Lys702Glu) c.2950A>G (p.Lys984Glu) c.2470A>G (p.Lys824Glu) | |
| 12 | g.47978105T>G | CA384540966 | COL2A1 | c.2809A>C (p.Lys937Gln) c.3016A>C (p.Lys1006Gln) n.2102A>C c.3160A>C (p.Lys1054Gln) c.3157A>C (p.Lys1053Gln) c.2104A>C (p.Lys702Gln) c.2950A>C (p.Lys984Gln) c.2470A>C (p.Lys824Gln) | |
| 12 | g.47978106G>A | CA479455536 | COL2A1 | c.2808C>T (p.Gly936=) c.3015C>T (p.Gly1005=) n.2101C>T c.3159C>T (p.Gly1053=) c.3156C>T (p.Gly1052=) c.2103C>T (p.Gly701=) c.2949C>T (p.Gly983=) c.2469C>T (p.Gly823=) | |
| 12 | g.47978106G>C | CA479455533 | COL2A1 | c.2808C>G (p.Gly936=) c.3015C>G (p.Gly1005=) n.2101C>G c.3159C>G (p.Gly1053=) c.3156C>G (p.Gly1052=) c.2103C>G (p.Gly701=) c.2949C>G (p.Gly983=) c.2469C>G (p.Gly823=) | |
| 12 | g.47978106G= | CA2034476717 | COL2A1 | c.2808C= (p.Gly936=) c.3015C= (p.Gly1005=) n.2101C= c.3159C= (p.Gly1053=) c.3156C= (p.Gly1052=) c.2103C= (p.Gly701=) c.2949C= (p.Gly983=) c.2469C= (p.Gly823=) | |
| 12 | g.47978106G>T | CA479455529 | COL2A1 | c.2808C>A (p.Gly936=) c.3015C>A (p.Gly1005=) n.2101C>A c.3159C>A (p.Gly1053=) c.3156C>A (p.Gly1052=) c.2103C>A (p.Gly701=) c.2949C>A (p.Gly983=) c.2469C>A (p.Gly823=) | dbSNP gnomAD v2 |
| 12 | g.47978107C>A | CA384540971 | COL2A1 | c.2807G>T (p.Gly936Val) c.3014G>T (p.Gly1005Val) n.2100G>T c.3158G>T (p.Gly1053Val) c.3155G>T (p.Gly1052Val) c.2102G>T (p.Gly701Val) c.2948G>T (p.Gly983Val) c.2468G>T (p.Gly823Val) | |
| 12 | g.47978107C>G | CA384540973 | COL2A1 | c.2807G>C (p.Gly936Ala) c.3014G>C (p.Gly1005Ala) n.2100G>C c.3158G>C (p.Gly1053Ala) c.3155G>C (p.Gly1052Ala) c.2102G>C (p.Gly701Ala) c.2948G>C (p.Gly983Ala) c.2468G>C (p.Gly823Ala) | |
| 12 | g.47978107C>T | CA384540975 | COL2A1 | c.2807G>A (p.Gly936Asp) c.3014G>A (p.Gly1005Asp) n.2100G>A c.3158G>A (p.Gly1053Asp) c.3155G>A (p.Gly1052Asp) c.2102G>A (p.Gly701Asp) c.2948G>A (p.Gly983Asp) c.2468G>A (p.Gly823Asp) | gnomAD v4 |
| 12 | g.47978108C>A | CA384540978 | COL2A1 | c.2806G>T (p.Gly936Cys) c.3013G>T (p.Gly1005Cys) n.2099G>T c.3157G>T (p.Gly1053Cys) c.3154G>T (p.Gly1052Cys) c.2101G>T (p.Gly701Cys) c.2947G>T (p.Gly983Cys) c.2467G>T (p.Gly823Cys) | |
| 12 | g.47978108C= | CA2034476718 | COL2A1 | c.2806G= (p.Gly936=) c.3013G= (p.Gly1005=) n.2099G= c.3157G= (p.Gly1053=) c.3154G= (p.Gly1052=) c.2101G= (p.Gly701=) c.2947G= (p.Gly983=) c.2467G= (p.Gly823=) | |
| 12 | g.47978108C>G | CA384540980 | COL2A1 | c.2806G>C (p.Gly936Arg) c.3013G>C (p.Gly1005Arg) n.2099G>C c.3157G>C (p.Gly1053Arg) c.3154G>C (p.Gly1052Arg) c.2101G>C (p.Gly701Arg) c.2947G>C (p.Gly983Arg) c.2467G>C (p.Gly823Arg) | |
| 12 | g.47978108C>T | CA6534912 | COL2A1 | c.2806G>A (p.Gly936Ser) c.3013G>A (p.Gly1005Ser) n.2099G>A c.3157G>A (p.Gly1053Ser) c.3154G>A (p.Gly1052Ser) c.2101G>A (p.Gly701Ser) c.2947G>A (p.Gly983Ser) c.2467G>A (p.Gly823Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978109G>A | CA6534913 | COL2A1 | c.2805C>T (p.Pro935=) c.3012C>T (p.Pro1004=) n.2098C>T c.3156C>T (p.Pro1052=) c.3153C>T (p.Pro1051=) c.2100C>T (p.Pro700=) c.2946C>T (p.Pro982=) c.2466C>T (p.Pro822=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978109G>C | CA479455554 | COL2A1 | c.2805C>G (p.Pro935=) c.3012C>G (p.Pro1004=) n.2098C>G c.3156C>G (p.Pro1052=) c.3153C>G (p.Pro1051=) c.2100C>G (p.Pro700=) c.2946C>G (p.Pro982=) c.2466C>G (p.Pro822=) | |
| 12 | g.47978109G= | CA2034476719 | COL2A1 | c.2805C= (p.Pro935=) c.3012C= (p.Pro1004=) n.2098C= c.3156C= (p.Pro1052=) c.3153C= (p.Pro1051=) c.2100C= (p.Pro700=) c.2946C= (p.Pro982=) c.2466C= (p.Pro822=) | |
| 12 | g.47978109G>T | CA479455557 | COL2A1 | c.2805C>A (p.Pro935=) c.3012C>A (p.Pro1004=) n.2098C>A c.3156C>A (p.Pro1052=) c.3153C>A (p.Pro1051=) c.2100C>A (p.Pro700=) c.2946C>A (p.Pro982=) c.2466C>A (p.Pro822=) | gnomAD v4 |
| 12 | g.47978111del | CA2695216646 | COL2A1 | c.2805del (p.Gly936AlafsTer23) c.3012del (p.Gly1005AlafsTer23) n.2098del c.3156del (p.Gly1053AlafsTer23) c.3153del (p.Gly1052AlafsTer23) c.2100del (p.Gly701AlafsTer23) c.2946del (p.Gly983AlafsTer23) c.2466del (p.Gly823AlafsTer23) | |
| 12 | g.47978110G>A | CA384540986 | COL2A1 | c.2804C>T (p.Pro935Leu) c.3011C>T (p.Pro1004Leu) n.2097C>T c.3155C>T (p.Pro1052Leu) c.3152C>T (p.Pro1051Leu) c.2099C>T (p.Pro700Leu) c.2945C>T (p.Pro982Leu) c.2465C>T (p.Pro822Leu) | |
| 12 | g.47978110G>C | CA384540988 | COL2A1 | c.2804C>G (p.Pro935Arg) c.3011C>G (p.Pro1004Arg) n.2097C>G c.3155C>G (p.Pro1052Arg) c.3152C>G (p.Pro1051Arg) c.2099C>G (p.Pro700Arg) c.2945C>G (p.Pro982Arg) c.2465C>G (p.Pro822Arg) | |
| 12 | g.47978110G>T | CA384540989 | COL2A1 | c.2804C>A (p.Pro935His) c.3011C>A (p.Pro1004His) n.2097C>A c.3155C>A (p.Pro1052His) c.3152C>A (p.Pro1051His) c.2099C>A (p.Pro700His) c.2945C>A (p.Pro982His) c.2465C>A (p.Pro822His) | |
| 12 | g.47978111G>A | CA384540995 | COL2A1 | c.2803C>T (p.Pro935Ser) c.3010C>T (p.Pro1004Ser) n.2096C>T c.3154C>T (p.Pro1052Ser) c.3151C>T (p.Pro1051Ser) c.2098C>T (p.Pro700Ser) c.2944C>T (p.Pro982Ser) c.2464C>T (p.Pro822Ser) | COSMIC COSMIC |
| 12 | g.47978111G>C | CA384540997 | COL2A1 | c.2803C>G (p.Pro935Ala) c.3010C>G (p.Pro1004Ala) n.2096C>G c.3154C>G (p.Pro1052Ala) c.3151C>G (p.Pro1051Ala) c.2098C>G (p.Pro700Ala) c.2944C>G (p.Pro982Ala) c.2464C>G (p.Pro822Ala) | |
| 12 | g.47978111G>T | CA384540992 | COL2A1 | c.2803C>A (p.Pro935Thr) c.3010C>A (p.Pro1004Thr) n.2096C>A c.3154C>A (p.Pro1052Thr) c.3151C>A (p.Pro1051Thr) c.2098C>A (p.Pro700Thr) c.2944C>A (p.Pro982Thr) c.2464C>A (p.Pro822Thr) | |
| 12 | g.47978112del | CA2739271945 | COL2A1 | c.2802del (p.Glu934AspfsTer25) c.3009del (p.Glu1003AspfsTer25) n.2095del c.3153del (p.Glu1051AspfsTer25) c.3150del (p.Glu1050AspfsTer25) c.2097del (p.Glu699AspfsTer25) c.2943del (p.Glu981AspfsTer25) c.2463del (p.Glu821AspfsTer25) | ClinVar |
| 12 | g.47978112C>A | CA384541002 | COL2A1 | c.2802G>T (p.Glu934Asp) c.3009G>T (p.Glu1003Asp) n.2095G>T c.3153G>T (p.Glu1051Asp) c.3150G>T (p.Glu1050Asp) c.2097G>T (p.Glu699Asp) c.2943G>T (p.Glu981Asp) c.2463G>T (p.Glu821Asp) | |
| 12 | g.47978112C>G | CA384541000 | COL2A1 | c.2802G>C (p.Glu934Asp) c.3009G>C (p.Glu1003Asp) n.2095G>C c.3153G>C (p.Glu1051Asp) c.3150G>C (p.Glu1050Asp) c.2097G>C (p.Glu699Asp) c.2943G>C (p.Glu981Asp) c.2463G>C (p.Glu821Asp) | |
| 12 | g.47978112C>T | CA479455584 | COL2A1 | c.2802G>A (p.Glu934=) c.3009G>A (p.Glu1003=) n.2095G>A c.3153G>A (p.Glu1051=) c.3150G>A (p.Glu1050=) c.2097G>A (p.Glu699=) c.2943G>A (p.Glu981=) c.2463G>A (p.Glu821=) | ClinVar |
| 12 | g.47978113T>A | CA384541004 | COL2A1 | c.2801A>T (p.Glu934Val) c.3008A>T (p.Glu1003Val) n.2094A>T c.3152A>T (p.Glu1051Val) c.3149A>T (p.Glu1050Val) c.2096A>T (p.Glu699Val) c.2942A>T (p.Glu981Val) c.2462A>T (p.Glu821Val) | |
| 12 | g.47978113T>C | CA6534914 | COL2A1 | c.2801A>G (p.Glu934Gly) c.3008A>G (p.Glu1003Gly) n.2094A>G c.3152A>G (p.Glu1051Gly) c.3149A>G (p.Glu1050Gly) c.2096A>G (p.Glu699Gly) c.2942A>G (p.Glu981Gly) c.2462A>G (p.Glu821Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978113T>G | CA384541007 | COL2A1 | c.2801A>C (p.Glu934Ala) c.3008A>C (p.Glu1003Ala) n.2094A>C c.3152A>C (p.Glu1051Ala) c.3149A>C (p.Glu1050Ala) c.2096A>C (p.Glu699Ala) c.2942A>C (p.Glu981Ala) c.2462A>C (p.Glu821Ala) | |
| 12 | g.47978113T= | CA2034476720 | COL2A1 | c.2801A= (p.Glu934=) c.3008A= (p.Glu1003=) n.2094A= c.3152A= (p.Glu1051=) c.3149A= (p.Glu1050=) c.2096A= (p.Glu699=) c.2942A= (p.Glu981=) c.2462A= (p.Glu821=) | |
| 12 | g.47978113_47978114insAGCCC | CA645570664 | COL2A1 | c.2800_2801insGGGCT (p.Glu934GlyfsTer27) c.3007_3008insGGGCT (p.Glu1003GlyfsTer27) n.2093_2094insGGGCT c.3151_3152insGGGCT (p.Glu1051GlyfsTer27) c.3148_3149insGGGCT (p.Glu1050GlyfsTer27) c.2095_2096insGGGCT (p.Glu699GlyfsTer27) c.2941_2942insGGGCT (p.Glu981GlyfsTer27) c.2461_2462insGGGCT (p.Glu821GlyfsTer27) | COSMIC COSMIC |
| 12 | g.47978114C>A | CA384541010 | COL2A1 | c.2800G>T (p.Glu934Ter) c.3007G>T (p.Glu1003Ter) n.2093G>T c.3151G>T (p.Glu1051Ter) c.3148G>T (p.Glu1050Ter) c.2095G>T (p.Glu699Ter) c.2941G>T (p.Glu981Ter) c.2461G>T (p.Glu821Ter) | |
| 12 | g.47978114C= | CA2034476721 | COL2A1 | c.2800G= (p.Glu934=) c.3007G= (p.Glu1003=) n.2093G= c.3151G= (p.Glu1051=) c.3148G= (p.Glu1050=) c.2095G= (p.Glu699=) c.2941G= (p.Glu981=) c.2461G= (p.Glu821=) | |
| 12 | g.47978114C>G | CA384541012 | COL2A1 | c.2800G>C (p.Glu934Gln) c.3007G>C (p.Glu1003Gln) n.2093G>C c.3151G>C (p.Glu1051Gln) c.3148G>C (p.Glu1050Gln) c.2095G>C (p.Glu699Gln) c.2941G>C (p.Glu981Gln) c.2461G>C (p.Glu821Gln) | |
| 12 | g.47978114C>T | CA6534915 | COL2A1 | c.2800G>A (p.Glu934Lys) c.3007G>A (p.Glu1003Lys) n.2093G>A c.3151G>A (p.Glu1051Lys) c.3148G>A (p.Glu1050Lys) c.2095G>A (p.Glu699Lys) c.2941G>A (p.Glu981Lys) c.2461G>A (p.Glu821Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978115A>C | CA479455606 | COL2A1 | c.2799T>G (p.Gly933=) c.3006T>G (p.Gly1002=) n.2092T>G c.3150T>G (p.Gly1050=) c.3147T>G (p.Gly1049=) c.2094T>G (p.Gly698=) c.2940T>G (p.Gly980=) c.2460T>G (p.Gly820=) | |
| 12 | g.47978115A>G | CA479455609 | COL2A1 | c.2799T>C (p.Gly933=) c.3006T>C (p.Gly1002=) n.2092T>C c.3150T>C (p.Gly1050=) c.3147T>C (p.Gly1049=) c.2094T>C (p.Gly698=) c.2940T>C (p.Gly980=) c.2460T>C (p.Gly820=) | gnomAD v4 |
| 12 | g.47978115A>T | CA479455613 | COL2A1 | c.2799T>A (p.Gly933=) c.3006T>A (p.Gly1002=) n.2092T>A c.3150T>A (p.Gly1050=) c.3147T>A (p.Gly1049=) c.2094T>A (p.Gly698=) c.2940T>A (p.Gly980=) c.2460T>A (p.Gly820=) | |
| 12 | g.47978116C>A | CA384541015 | COL2A1 | c.2798G>T (p.Gly933Val) c.3005G>T (p.Gly1002Val) n.2091G>T c.3149G>T (p.Gly1050Val) c.3146G>T (p.Gly1049Val) c.2093G>T (p.Gly698Val) c.2939G>T (p.Gly980Val) c.2459G>T (p.Gly820Val) | |
| 12 | g.47978116C>G | CA384541017 | COL2A1 | c.2798G>C (p.Gly933Ala) c.3005G>C (p.Gly1002Ala) n.2091G>C c.3149G>C (p.Gly1050Ala) c.3146G>C (p.Gly1049Ala) c.2093G>C (p.Gly698Ala) c.2939G>C (p.Gly980Ala) c.2459G>C (p.Gly820Ala) | |
| 12 | g.47978116C>T | CA384541019 | COL2A1 | c.2798G>A (p.Gly933Asp) c.3005G>A (p.Gly1002Asp) n.2091G>A c.3149G>A (p.Gly1050Asp) c.3146G>A (p.Gly1049Asp) c.2093G>A (p.Gly698Asp) c.2939G>A (p.Gly980Asp) c.2459G>A (p.Gly820Asp) | |
| 12 | g.47978117C>A | CA384541022 | COL2A1 | c.2797G>T (p.Gly933Cys) c.3004G>T (p.Gly1002Cys) n.2090G>T c.3148G>T (p.Gly1050Cys) c.3145G>T (p.Gly1049Cys) c.2092G>T (p.Gly698Cys) c.2938G>T (p.Gly980Cys) c.2458G>T (p.Gly820Cys) | |
| 12 | g.47978117C= | CA2034476722 | COL2A1 | c.2797G= (p.Gly933=) c.3004G= (p.Gly1002=) n.2090G= c.3148G= (p.Gly1050=) c.3145G= (p.Gly1049=) c.2092G= (p.Gly698=) c.2938G= (p.Gly980=) c.2458G= (p.Gly820=) | |
| 12 | g.47978117C>G | CA384541024 | COL2A1 | c.2797G>C (p.Gly933Arg) c.3004G>C (p.Gly1002Arg) n.2090G>C c.3148G>C (p.Gly1050Arg) c.3145G>C (p.Gly1049Arg) c.2092G>C (p.Gly698Arg) c.2938G>C (p.Gly980Arg) c.2458G>C (p.Gly820Arg) | |
| 12 | g.47978117C>T | CA384541025 | COL2A1 | c.2797G>A (p.Gly933Ser) c.3004G>A (p.Gly1002Ser) n.2090G>A c.3148G>A (p.Gly1050Ser) c.3145G>A (p.Gly1049Ser) c.2092G>A (p.Gly698Ser) c.2938G>A (p.Gly980Ser) c.2458G>A (p.Gly820Ser) | dbSNP gnomAD v2 |
| 12 | g.47978118C>A | CA384541031 | COL2A1 | c.2797-1G>T (n.2797-1G>T) c.3004-1G>T (n.3004-1G>T) n.2090-1G>T c.3148-1G>T (n.3148-1G>T) c.3145-1G>T (n.3145-1G>T) c.2092-1G>T (n.2092-1G>T) c.2938-1G>T (n.2938-1G>T) c.2458-1G>T (n.2458-1G>T) | |
| 12 | g.47978118C>G | CA384541027 | COL2A1 | c.2797-1G>C (n.2797-1G>C) c.3004-1G>C (n.3004-1G>C) n.2090-1G>C c.3148-1G>C (n.3148-1G>C) c.3145-1G>C (n.3145-1G>C) c.2092-1G>C (n.2092-1G>C) c.2938-1G>C (n.2938-1G>C) c.2458-1G>C (n.2458-1G>C) | |
| 12 | g.47978118C>T | CA384541029 | COL2A1 | c.2797-1G>A (n.2797-1G>A) c.3004-1G>A (n.3004-1G>A) n.2090-1G>A c.3148-1G>A (n.3148-1G>A) c.3145-1G>A (n.3145-1G>A) c.2092-1G>A (n.2092-1G>A) c.2938-1G>A (n.2938-1G>A) c.2458-1G>A (n.2458-1G>A) | ClinVar dbSNP |
| 12 | g.47978119T>A | CA384541034 | COL2A1 | c.2797-2A>T (n.2797-2A>T) c.3004-2A>T (n.3004-2A>T) n.2090-2A>T c.3148-2A>T (n.3148-2A>T) c.3145-2A>T (n.3145-2A>T) c.2092-2A>T (n.2092-2A>T) c.2938-2A>T (n.2938-2A>T) c.2458-2A>T (n.2458-2A>T) | |
| 12 | g.47978119T>C | CA384541036 | COL2A1 | c.2797-2A>G (n.2797-2A>G) c.3004-2A>G (n.3004-2A>G) n.2090-2A>G c.3148-2A>G (n.3148-2A>G) c.3145-2A>G (n.3145-2A>G) c.2092-2A>G (n.2092-2A>G) c.2938-2A>G (n.2938-2A>G) c.2458-2A>G (n.2458-2A>G) | |
| 12 | g.47978119T>G | CA384541038 | COL2A1 | c.2797-2A>C (n.2797-2A>C) c.3004-2A>C (n.3004-2A>C) n.2090-2A>C c.3148-2A>C (n.3148-2A>C) c.3145-2A>C (n.3145-2A>C) c.2092-2A>C (n.2092-2A>C) c.2938-2A>C (n.2938-2A>C) c.2458-2A>C (n.2458-2A>C) | |
| 12 | g.47978120G>A | CA689437316 | COL2A1 | c.2797-3C>T (n.2797-3C>T) c.3004-3C>T (n.3004-3C>T) n.2090-3C>T c.3148-3C>T (n.3148-3C>T) c.3145-3C>T (n.3145-3C>T) c.2092-3C>T (n.2092-3C>T) c.2938-3C>T (n.2938-3C>T) c.2458-3C>T (n.2458-3C>T) | ClinVar dbSNP |
| 12 | g.47978120G= | CA2034476723 | COL2A1 | c.2797-3C= (n.2797-3C=) c.3004-3C= (n.3004-3C=) n.2090-3C= c.3148-3C= (n.3148-3C=) c.3145-3C= (n.3145-3C=) c.2092-3C= (n.2092-3C=) c.2938-3C= (n.2938-3C=) c.2458-3C= (n.2458-3C=) | |
| 12 | g.47978121G= | CA2034476724 | COL2A1 | c.2797-4C= (n.2797-4C=) c.3004-4C= (n.3004-4C=) n.2090-4C= c.3148-4C= (n.3148-4C=) c.3145-4C= (n.3145-4C=) c.2092-4C= (n.2092-4C=) c.2938-4C= (n.2938-4C=) c.2458-4C= (n.2458-4C=) | |
| 12 | g.47978121G>T | CA604848841 | COL2A1 | c.2797-4C>A (n.2797-4C>A) c.3004-4C>A (n.3004-4C>A) n.2090-4C>A c.3148-4C>A (n.3148-4C>A) c.3145-4C>A (n.3145-4C>A) c.2092-4C>A (n.2092-4C>A) c.2938-4C>A (n.2938-4C>A) c.2458-4C>A (n.2458-4C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978122A= | CA2034476725 | COL2A1 | c.2797-5T= (n.2797-5T=) c.3004-5T= (n.3004-5T=) n.2090-5T= c.3148-5T= (n.3148-5T=) c.3145-5T= (n.3145-5T=) c.2092-5T= (n.2092-5T=) c.2938-5T= (n.2938-5T=) c.2458-5T= (n.2458-5T=) | |
| 12 | g.47978122A>G | CA604848842 | COL2A1 | c.2797-5T>C (n.2797-5T>C) c.3004-5T>C (n.3004-5T>C) n.2090-5T>C c.3148-5T>C (n.3148-5T>C) c.3145-5T>C (n.3145-5T>C) c.2092-5T>C (n.2092-5T>C) c.2938-5T>C (n.2938-5T>C) c.2458-5T>C (n.2458-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978130_47978211dup | CA947352022 | COL2A1 | c.2797-86_2797-5dup (n.2797-86_2797-5dup) c.3004-86_3004-5dup (n.3004-86_3004-5dup) n.2090-86_2090-5dup c.3148-86_3148-5dup (n.3148-86_3148-5dup) c.3145-86_3145-5dup (n.3145-86_3145-5dup) c.2092-86_2092-5dup (n.2092-86_2092-5dup) c.2938-86_2938-5dup (n.2938-86_2938-5dup) c.2458-86_2458-5dup (n.2458-86_2458-5dup) | gnomAD v3 gnomAD v4 |
| 12 | g.47978123G>A | CA2573148628 | COL2A1 | c.2797-6C>T (n.2797-6C>T) c.3004-6C>T (n.3004-6C>T) n.2090-6C>T c.3148-6C>T (n.3148-6C>T) c.3145-6C>T (n.3145-6C>T) c.2092-6C>T (n.2092-6C>T) c.2938-6C>T (n.2938-6C>T) c.2458-6C>T (n.2458-6C>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978124G>A | CA2580085516 | COL2A1 | c.2797-7C>T (n.2797-7C>T) c.3004-7C>T (n.3004-7C>T) n.2090-7C>T c.3148-7C>T (n.3148-7C>T) c.3145-7C>T (n.3145-7C>T) c.2092-7C>T (n.2092-7C>T) c.2938-7C>T (n.2938-7C>T) c.2458-7C>T (n.2458-7C>T) | ClinVar |
| 12 | g.47978124G>C | CA947352024 | COL2A1 | c.2797-7C>G (n.2797-7C>G) c.3004-7C>G (n.3004-7C>G) n.2090-7C>G c.3148-7C>G (n.3148-7C>G) c.3145-7C>G (n.3145-7C>G) c.2092-7C>G (n.2092-7C>G) c.2938-7C>G (n.2938-7C>G) c.2458-7C>G (n.2458-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978124G= | CA2034476726 | COL2A1 | c.2797-7C= (n.2797-7C=) c.3004-7C= (n.3004-7C=) n.2090-7C= c.3148-7C= (n.3148-7C=) c.3145-7C= (n.3145-7C=) c.2092-7C= (n.2092-7C=) c.2938-7C= (n.2938-7C=) c.2458-7C= (n.2458-7C=) | |
| 12 | g.47978125G>A | CA604848843 | COL2A1 | c.2797-8C>T (n.2797-8C>T) c.3004-8C>T (n.3004-8C>T) n.2090-8C>T c.3148-8C>T (n.3148-8C>T) c.3145-8C>T (n.3145-8C>T) c.2092-8C>T (n.2092-8C>T) c.2938-8C>T (n.2938-8C>T) c.2458-8C>T (n.2458-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978125G>C | CA2573148629 | COL2A1 | c.2797-8C>G (n.2797-8C>G) c.3004-8C>G (n.3004-8C>G) n.2090-8C>G c.3148-8C>G (n.3148-8C>G) c.3145-8C>G (n.3145-8C>G) c.2092-8C>G (n.2092-8C>G) c.2938-8C>G (n.2938-8C>G) c.2458-8C>G (n.2458-8C>G) | ClinVar dbSNP |
| 12 | g.47978125G= | CA2034476727 | COL2A1 | c.2797-8C= (n.2797-8C=) c.3004-8C= (n.3004-8C=) n.2090-8C= c.3148-8C= (n.3148-8C=) c.3145-8C= (n.3145-8C=) c.2092-8C= (n.2092-8C=) c.2938-8C= (n.2938-8C=) c.2458-8C= (n.2458-8C=) | |
| 12 | g.47978126A>C | CA2618499606 | COL2A1 | c.2797-9T>G (n.2797-9T>G) c.3004-9T>G (n.3004-9T>G) n.2090-9T>G c.3148-9T>G (n.3148-9T>G) c.3145-9T>G (n.3145-9T>G) c.2092-9T>G (n.2092-9T>G) c.2938-9T>G (n.2938-9T>G) c.2458-9T>G (n.2458-9T>G) | gnomAD v4 |
| 12 | g.47978127C= | CA2034476728 | COL2A1 | c.2797-10G= (n.2797-10G=) c.3004-10G= (n.3004-10G=) n.2090-10G= c.3148-10G= (n.3148-10G=) c.3145-10G= (n.3145-10G=) c.2092-10G= (n.2092-10G=) c.2938-10G= (n.2938-10G=) c.2458-10G= (n.2458-10G=) | |
| 12 | g.47978127C>G | CA947352030 | COL2A1 | c.2797-10G>C (n.2797-10G>C) c.3004-10G>C (n.3004-10G>C) n.2090-10G>C c.3148-10G>C (n.3148-10G>C) c.3145-10G>C (n.3145-10G>C) c.2092-10G>C (n.2092-10G>C) c.2938-10G>C (n.2938-10G>C) c.2458-10G>C (n.2458-10G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978129G>A | CA2573148630 | COL2A1 | c.2797-12C>T (n.2797-12C>T) c.3004-12C>T (n.3004-12C>T) n.2090-12C>T c.3148-12C>T (n.3148-12C>T) c.3145-12C>T (n.3145-12C>T) c.2092-12C>T (n.2092-12C>T) c.2938-12C>T (n.2938-12C>T) c.2458-12C>T (n.2458-12C>T) | ClinVar dbSNP |
| 12 | g.47978133C= | CA2034476729 | COL2A1 | c.2797-16G= (n.2797-16G=) c.3004-16G= (n.3004-16G=) n.2090-16G= c.3148-16G= (n.3148-16G=) c.3145-16G= (n.3145-16G=) c.2092-16G= (n.2092-16G=) c.2938-16G= (n.2938-16G=) c.2458-16G= (n.2458-16G=) | |
| 12 | g.47978133C>T | CA2034476730 | COL2A1 | c.2797-16G>A (n.2797-16G>A) c.3004-16G>A (n.3004-16G>A) n.2090-16G>A c.3148-16G>A (n.3148-16G>A) c.3145-16G>A (n.3145-16G>A) c.2092-16G>A (n.2092-16G>A) c.2938-16G>A (n.2938-16G>A) c.2458-16G>A (n.2458-16G>A) | dbSNP |
| 12 | g.47978135A>T | CA2726226331 | COL2A1 | c.2797-18T>A (n.2797-18T>A) c.3004-18T>A (n.3004-18T>A) n.2090-18T>A c.3148-18T>A (n.3148-18T>A) c.3145-18T>A (n.3145-18T>A) c.2092-18T>A (n.2092-18T>A) c.2938-18T>A (n.2938-18T>A) c.2458-18T>A (n.2458-18T>A) | dbSNP |
| 12 | g.47978137G>A | CA2034476732 | COL2A1 | c.2797-20C>T (n.2797-20C>T) c.3004-20C>T (n.3004-20C>T) n.2090-20C>T c.3148-20C>T (n.3148-20C>T) c.3145-20C>T (n.3145-20C>T) c.2092-20C>T (n.2092-20C>T) c.2938-20C>T (n.2938-20C>T) c.2458-20C>T (n.2458-20C>T) | dbSNP |
| 12 | g.47978137G= | CA2034476731 | COL2A1 | c.2797-20C= (n.2797-20C=) c.3004-20C= (n.3004-20C=) n.2090-20C= c.3148-20C= (n.3148-20C=) c.3145-20C= (n.3145-20C=) c.2092-20C= (n.2092-20C=) c.2938-20C= (n.2938-20C=) c.2458-20C= (n.2458-20C=) | |
| 12 | g.47978138A>G | CA2575137395 | COL2A1 | c.2797-21T>C (n.2797-21T>C) c.3004-21T>C (n.3004-21T>C) n.2090-21T>C c.3148-21T>C (n.3148-21T>C) c.3145-21T>C (n.3145-21T>C) c.2092-21T>C (n.2092-21T>C) c.2938-21T>C (n.2938-21T>C) c.2458-21T>C (n.2458-21T>C) | |
| 12 | g.47978140G>T | CA2618499607 | COL2A1 | c.2797-23C>A (n.2797-23C>A) c.3004-23C>A (n.3004-23C>A) n.2090-23C>A c.3148-23C>A (n.3148-23C>A) c.3145-23C>A (n.3145-23C>A) c.2092-23C>A (n.2092-23C>A) c.2938-23C>A (n.2938-23C>A) c.2458-23C>A (n.2458-23C>A) | gnomAD v4 |
| 12 | g.47978142T>A | CA2618499608 | COL2A1 | c.2797-25A>T (n.2797-25A>T) c.3004-25A>T (n.3004-25A>T) n.2090-25A>T c.3148-25A>T (n.3148-25A>T) c.3145-25A>T (n.3145-25A>T) c.2092-25A>T (n.2092-25A>T) c.2938-25A>T (n.2938-25A>T) c.2458-25A>T (n.2458-25A>T) | gnomAD v4 |
| 12 | g.47978143G>T | CA2618499609 | COL2A1 | c.2797-26C>A (n.2797-26C>A) c.3004-26C>A (n.3004-26C>A) n.2090-26C>A c.3148-26C>A (n.3148-26C>A) c.3145-26C>A (n.3145-26C>A) c.2092-26C>A (n.2092-26C>A) c.2938-26C>A (n.2938-26C>A) c.2458-26C>A (n.2458-26C>A) | gnomAD v4 |
| 12 | g.47978144A>G | CA2575137396 | COL2A1 | c.2797-27T>C (n.2797-27T>C) c.3004-27T>C (n.3004-27T>C) n.2090-27T>C c.3148-27T>C (n.3148-27T>C) c.3145-27T>C (n.3145-27T>C) c.2092-27T>C (n.2092-27T>C) c.2938-27T>C (n.2938-27T>C) c.2458-27T>C (n.2458-27T>C) | gnomAD v4 |
| 12 | g.47978145G>A | CA236521617 | COL2A1 | c.2797-28C>T (n.2797-28C>T) c.3004-28C>T (n.3004-28C>T) n.2090-28C>T c.3148-28C>T (n.3148-28C>T) c.3145-28C>T (n.3145-28C>T) c.2092-28C>T (n.2092-28C>T) c.2938-28C>T (n.2938-28C>T) c.2458-28C>T (n.2458-28C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978145G= | CA2034476733 | COL2A1 | c.2797-28C= (n.2797-28C=) c.3004-28C= (n.3004-28C=) n.2090-28C= c.3148-28C= (n.3148-28C=) c.3145-28C= (n.3145-28C=) c.2092-28C= (n.2092-28C=) c.2938-28C= (n.2938-28C=) c.2458-28C= (n.2458-28C=) | |
| 12 | g.47978146_47978157delinsTGCAAGTGGTAA | CA2034476734 | COL2A1 | c.2797-40_2797-29delinsTTACCACTTGCA (n.2797-40_2797-29delinsTTACCACTTGCA) c.3004-40_3004-29delinsTTACCACTTGCA (n.3004-40_3004-29delinsTTACCACTTGCA) n.2090-40_2090-29delinsTTACCACTTGCA c.3148-40_3148-29delinsTTACCACTTGCA (n.3148-40_3148-29delinsTTACCACTTGCA) c.3145-40_3145-29delinsTTACCACTTGCA (n.3145-40_3145-29delinsTTACCACTTGCA) c.2092-40_2092-29delinsTTACCACTTGCA (n.2092-40_2092-29delinsTTACCACTTGCA) c.2938-40_2938-29delinsTTACCACTTGCA (n.2938-40_2938-29delinsTTACCACTTGCA) c.2458-40_2458-29delinsTTACCACTTGCA (n.2458-40_2458-29delinsTTACCACTTGCA) | |
| 12 | g.47978147G>A | CA6534917 | COL2A1 | c.2797-30C>T (n.2797-30C>T) c.3004-30C>T (n.3004-30C>T) n.2090-30C>T c.3148-30C>T (n.3148-30C>T) c.3145-30C>T (n.3145-30C>T) c.2092-30C>T (n.2092-30C>T) c.2938-30C>T (n.2938-30C>T) c.2458-30C>T (n.2458-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978147G>C | CA2575137397 | COL2A1 | c.2797-30C>G (n.2797-30C>G) c.3004-30C>G (n.3004-30C>G) n.2090-30C>G c.3148-30C>G (n.3148-30C>G) c.3145-30C>G (n.3145-30C>G) c.2092-30C>G (n.2092-30C>G) c.2938-30C>G (n.2938-30C>G) c.2458-30C>G (n.2458-30C>G) | gnomAD v4 |
| 12 | g.47978147G= | CA2034476735 | COL2A1 | c.2797-30C= (n.2797-30C=) c.3004-30C= (n.3004-30C=) n.2090-30C= c.3148-30C= (n.3148-30C=) c.3145-30C= (n.3145-30C=) c.2092-30C= (n.2092-30C=) c.2938-30C= (n.2938-30C=) c.2458-30C= (n.2458-30C=) | |
| 12 | g.47978147G>T | CA2618499617 | COL2A1 | c.2797-30C>A (n.2797-30C>A) c.3004-30C>A (n.3004-30C>A) n.2090-30C>A c.3148-30C>A (n.3148-30C>A) c.3145-30C>A (n.3145-30C>A) c.2092-30C>A (n.2092-30C>A) c.2938-30C>A (n.2938-30C>A) c.2458-30C>A (n.2458-30C>A) | gnomAD v4 |
| 12 | g.47978150_47978160del | CA6534916 | COL2A1 | c.2797-40_2797-30del (n.2797-40_2797-30del) c.3004-40_3004-30del (n.3004-40_3004-30del) n.2090-40_2090-30del c.3148-40_3148-30del (n.3148-40_3148-30del) c.3145-40_3145-30del (n.3145-40_3145-30del) c.2092-40_2092-30del (n.2092-40_2092-30del) c.2938-40_2938-30del (n.2938-40_2938-30del) c.2458-40_2458-30del (n.2458-40_2458-30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978148C>A | CA479455672 | COL2A1 | c.2797-31G>T (n.2797-31G>T) c.3004-31G>T (n.3004-31G>T) n.2090-31G>T c.3148-31G>T (n.3148-31G>T) c.3145-31G>T (n.3145-31G>T) c.2092-31G>T (n.2092-31G>T) c.2938-31G>T (n.2938-31G>T) c.2458-31G>T (n.2458-31G>T) | gnomAD v4 |
| 12 | g.47978149A= | CA2034476736 | COL2A1 | c.2797-32T= (n.2797-32T=) c.3004-32T= (n.3004-32T=) n.2090-32T= c.3148-32T= (n.3148-32T=) c.3145-32T= (n.3145-32T=) c.2092-32T= (n.2092-32T=) c.2938-32T= (n.2938-32T=) c.2458-32T= (n.2458-32T=) | |
| 12 | g.47978149A>G | CA604848847 | COL2A1 | c.2797-32T>C (n.2797-32T>C) c.3004-32T>C (n.3004-32T>C) n.2090-32T>C c.3148-32T>C (n.3148-32T>C) c.3145-32T>C (n.3145-32T>C) c.2092-32T>C (n.2092-32T>C) c.2938-32T>C (n.2938-32T>C) c.2458-32T>C (n.2458-32T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978149A>T | CA604848846 | COL2A1 | c.2797-32T>A (n.2797-32T>A) c.3004-32T>A (n.3004-32T>A) n.2090-32T>A c.3148-32T>A (n.3148-32T>A) c.3145-32T>A (n.3145-32T>A) c.2092-32T>A (n.2092-32T>A) c.2938-32T>A (n.2938-32T>A) c.2458-32T>A (n.2458-32T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978150A= | CA2034476738 | COL2A1 | c.2797-33T= (n.2797-33T=) c.3004-33T= (n.3004-33T=) n.2090-33T= c.3148-33T= (n.3148-33T=) c.3145-33T= (n.3145-33T=) c.2092-33T= (n.2092-33T=) c.2938-33T= (n.2938-33T=) c.2458-33T= (n.2458-33T=) | |
| 12 | g.47978150A>C | CA2034476737 | COL2A1 | c.2797-33T>G (n.2797-33T>G) c.3004-33T>G (n.3004-33T>G) n.2090-33T>G c.3148-33T>G (n.3148-33T>G) c.3145-33T>G (n.3145-33T>G) c.2092-33T>G (n.2092-33T>G) c.2938-33T>G (n.2938-33T>G) c.2458-33T>G (n.2458-33T>G) | dbSNP gnomAD v4 |
| 12 | g.47978151G>A | CA2034476740 | COL2A1 | c.2797-34C>T (n.2797-34C>T) c.3004-34C>T (n.3004-34C>T) n.2090-34C>T c.3148-34C>T (n.3148-34C>T) c.3145-34C>T (n.3145-34C>T) c.2092-34C>T (n.2092-34C>T) c.2938-34C>T (n.2938-34C>T) c.2458-34C>T (n.2458-34C>T) | dbSNP gnomAD v4 |
| 12 | g.47978151G= | CA2034476739 | COL2A1 | c.2797-34C= (n.2797-34C=) c.3004-34C= (n.3004-34C=) n.2090-34C= c.3148-34C= (n.3148-34C=) c.3145-34C= (n.3145-34C=) c.2092-34C= (n.2092-34C=) c.2938-34C= (n.2938-34C=) c.2458-34C= (n.2458-34C=) | |
| 12 | g.47978152T>A | CA2726226366 | COL2A1 | c.2797-35A>T (n.2797-35A>T) c.3004-35A>T (n.3004-35A>T) n.2090-35A>T c.3148-35A>T (n.3148-35A>T) c.3145-35A>T (n.3145-35A>T) c.2092-35A>T (n.2092-35A>T) c.2938-35A>T (n.2938-35A>T) c.2458-35A>T (n.2458-35A>T) | dbSNP |
| 12 | g.47978153G>A | CA2618499670 | COL2A1 | c.2797-36C>T (n.2797-36C>T) c.3004-36C>T (n.3004-36C>T) n.2090-36C>T c.3148-36C>T (n.3148-36C>T) c.3145-36C>T (n.3145-36C>T) c.2092-36C>T (n.2092-36C>T) c.2938-36C>T (n.2938-36C>T) c.2458-36C>T (n.2458-36C>T) | gnomAD v4 |
| 12 | g.47978157A= | CA2034476741 | COL2A1 | c.2797-40T= (n.2797-40T=) c.3004-40T= (n.3004-40T=) n.2090-40T= c.3148-40T= (n.3148-40T=) c.3145-40T= (n.3145-40T=) c.2092-40T= (n.2092-40T=) c.2938-40T= (n.2938-40T=) c.2458-40T= (n.2458-40T=) | |
| 12 | g.47978157A>G | CA947352038 | COL2A1 | c.2797-40T>C (n.2797-40T>C) c.3004-40T>C (n.3004-40T>C) n.2090-40T>C c.3148-40T>C (n.3148-40T>C) c.3145-40T>C (n.3145-40T>C) c.2092-40T>C (n.2092-40T>C) c.2938-40T>C (n.2938-40T>C) c.2458-40T>C (n.2458-40T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978159C>A | CA2618499681 | COL2A1 | c.2797-42G>T (n.2797-42G>T) c.3004-42G>T (n.3004-42G>T) n.2090-42G>T c.3148-42G>T (n.3148-42G>T) c.3145-42G>T (n.3145-42G>T) c.2092-42G>T (n.2092-42G>T) c.2938-42G>T (n.2938-42G>T) c.2458-42G>T (n.2458-42G>T) | gnomAD v4 |
| 12 | g.47978159C= | CA2034476742 | COL2A1 | c.2797-42G= (n.2797-42G=) c.3004-42G= (n.3004-42G=) n.2090-42G= c.3148-42G= (n.3148-42G=) c.3145-42G= (n.3145-42G=) c.2092-42G= (n.2092-42G=) c.2938-42G= (n.2938-42G=) c.2458-42G= (n.2458-42G=) | |
| 12 | g.47978159C>T | CA2034476743 | COL2A1 | c.2797-42G>A (n.2797-42G>A) c.3004-42G>A (n.3004-42G>A) n.2090-42G>A c.3148-42G>A (n.3148-42G>A) c.3145-42G>A (n.3145-42G>A) c.2092-42G>A (n.2092-42G>A) c.2938-42G>A (n.2938-42G>A) c.2458-42G>A (n.2458-42G>A) | dbSNP |
| 12 | g.47978160A>G | CA2618499688 | COL2A1 | c.2797-43T>C (n.2797-43T>C) c.3004-43T>C (n.3004-43T>C) n.2090-43T>C c.3148-43T>C (n.3148-43T>C) c.3145-43T>C (n.3145-43T>C) c.2092-43T>C (n.2092-43T>C) c.2938-43T>C (n.2938-43T>C) c.2458-43T>C (n.2458-43T>C) | gnomAD v4 |
| 12 | g.47978161C>A | CA6534918 | COL2A1 | c.2797-44G>T (n.2797-44G>T) c.3004-44G>T (n.3004-44G>T) n.2090-44G>T c.3148-44G>T (n.3148-44G>T) c.3145-44G>T (n.3145-44G>T) c.2092-44G>T (n.2092-44G>T) c.2938-44G>T (n.2938-44G>T) c.2458-44G>T (n.2458-44G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978161C= | CA2034476744 | COL2A1 | c.2797-44G= (n.2797-44G=) c.3004-44G= (n.3004-44G=) n.2090-44G= c.3148-44G= (n.3148-44G=) c.3145-44G= (n.3145-44G=) c.2092-44G= (n.2092-44G=) c.2938-44G= (n.2938-44G=) c.2458-44G= (n.2458-44G=) | |
| 12 | g.47978161C>G | CA2618499696 | COL2A1 | c.2797-44G>C (n.2797-44G>C) c.3004-44G>C (n.3004-44G>C) n.2090-44G>C c.3148-44G>C (n.3148-44G>C) c.3145-44G>C (n.3145-44G>C) c.2092-44G>C (n.2092-44G>C) c.2938-44G>C (n.2938-44G>C) c.2458-44G>C (n.2458-44G>C) | gnomAD v4 |
| 12 | g.47978161C>T | CA604848848 | COL2A1 | c.2797-44G>A (n.2797-44G>A) c.3004-44G>A (n.3004-44G>A) n.2090-44G>A c.3148-44G>A (n.3148-44G>A) c.3145-44G>A (n.3145-44G>A) c.2092-44G>A (n.2092-44G>A) c.2938-44G>A (n.2938-44G>A) c.2458-44G>A (n.2458-44G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978162C>A | CA2618499698 | COL2A1 | c.2797-45G>T (n.2797-45G>T) c.3004-45G>T (n.3004-45G>T) n.2090-45G>T c.3148-45G>T (n.3148-45G>T) c.3145-45G>T (n.3145-45G>T) c.2092-45G>T (n.2092-45G>T) c.2938-45G>T (n.2938-45G>T) c.2458-45G>T (n.2458-45G>T) | gnomAD v4 |
| 12 | g.47978163C>T | CA2618499699 | COL2A1 | c.2797-46G>A (n.2797-46G>A) c.3004-46G>A (n.3004-46G>A) n.2090-46G>A c.3148-46G>A (n.3148-46G>A) c.3145-46G>A (n.3145-46G>A) c.2092-46G>A (n.2092-46G>A) c.2938-46G>A (n.2938-46G>A) c.2458-46G>A (n.2458-46G>A) | gnomAD v4 |
| 12 | g.47978164C>A | CA2618499701 | COL2A1 | c.2797-47G>T (n.2797-47G>T) c.3004-47G>T (n.3004-47G>T) n.2090-47G>T c.3148-47G>T (n.3148-47G>T) c.3145-47G>T (n.3145-47G>T) c.2092-47G>T (n.2092-47G>T) c.2938-47G>T (n.2938-47G>T) c.2458-47G>T (n.2458-47G>T) | gnomAD v4 |
| 12 | g.47978165del | CA2618499703 | COL2A1 | c.2797-48del (n.2797-48del) c.3004-48del (n.3004-48del) n.2090-48del c.3148-48del (n.3148-48del) c.3145-48del (n.3145-48del) c.2092-48del (n.2092-48del) c.2938-48del (n.2938-48del) c.2458-48del (n.2458-48del) | gnomAD v4 |
| 12 | g.47978166G>A | CA604848849 | COL2A1 | c.2797-49C>T (n.2797-49C>T) c.3004-49C>T (n.3004-49C>T) n.2090-49C>T c.3148-49C>T (n.3148-49C>T) c.3145-49C>T (n.3145-49C>T) c.2092-49C>T (n.2092-49C>T) c.2938-49C>T (n.2938-49C>T) c.2458-49C>T (n.2458-49C>T) | dbSNP gnomAD v2 |
| 12 | g.47978166G= | CA2034476745 | COL2A1 | c.2797-49C= (n.2797-49C=) c.3004-49C= (n.3004-49C=) n.2090-49C= c.3148-49C= (n.3148-49C=) c.3145-49C= (n.3145-49C=) c.2092-49C= (n.2092-49C=) c.2938-49C= (n.2938-49C=) c.2458-49C= (n.2458-49C=) | |
| 12 | g.47978168C>A | CA2575137399 | COL2A1 | c.2797-51G>T (n.2797-51G>T) c.3004-51G>T (n.3004-51G>T) n.2090-51G>T c.3148-51G>T (n.3148-51G>T) c.3145-51G>T (n.3145-51G>T) c.2092-51G>T (n.2092-51G>T) c.2938-51G>T (n.2938-51G>T) c.2458-51G>T (n.2458-51G>T) | |
| 12 | g.47978168C= | CA2034476746 | COL2A1 | c.2797-51G= (n.2797-51G=) c.3004-51G= (n.3004-51G=) n.2090-51G= c.3148-51G= (n.3148-51G=) c.3145-51G= (n.3145-51G=) c.2092-51G= (n.2092-51G=) c.2938-51G= (n.2938-51G=) c.2458-51G= (n.2458-51G=) | |
| 12 | g.47978168C>T | CA604848850 | COL2A1 | c.2797-51G>A (n.2797-51G>A) c.3004-51G>A (n.3004-51G>A) n.2090-51G>A c.3148-51G>A (n.3148-51G>A) c.3145-51G>A (n.3145-51G>A) c.2092-51G>A (n.2092-51G>A) c.2938-51G>A (n.2938-51G>A) c.2458-51G>A (n.2458-51G>A) | dbSNP gnomAD v2 |
| 12 | g.47978169C>A | CA2618499704 | COL2A1 | c.2797-52G>T (n.2797-52G>T) c.3004-52G>T (n.3004-52G>T) n.2090-52G>T c.3148-52G>T (n.3148-52G>T) c.3145-52G>T (n.3145-52G>T) c.2092-52G>T (n.2092-52G>T) c.2938-52G>T (n.2938-52G>T) c.2458-52G>T (n.2458-52G>T) | gnomAD v4 |