| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978303_47978311del | CA2573148633 | COL2A1 | c.2782_2790del (p.Leu928_Gly930del) c.2989_2997del (p.Leu997_Gly999del) n.2075_2083del c.3133_3141del (p.Leu1045_Gly1047del) c.3130_3138del (p.Leu1044_Gly1046del) c.2077_2085del (p.Leu693_Gly695del) c.2923_2931del (p.Leu975_Gly977del) c.2443_2451del (p.Leu815_Gly817del) | ClinVar dbSNP |
| 12 | g.47978300A>C | CA479696637 | COL2A1 | c.2787T>G (p.Pro929=) c.2994T>G (p.Pro998=) n.2080T>G c.3138T>G (p.Pro1046=) c.3135T>G (p.Pro1045=) c.2082T>G (p.Pro694=) c.2928T>G (p.Pro976=) c.2448T>G (p.Pro816=) | |
| 12 | g.47978300A>G | CA479696638 | COL2A1 | c.2787T>C (p.Pro929=) c.2994T>C (p.Pro998=) n.2080T>C c.3138T>C (p.Pro1046=) c.3135T>C (p.Pro1045=) c.2082T>C (p.Pro694=) c.2928T>C (p.Pro976=) c.2448T>C (p.Pro816=) | |
| 12 | g.47978300A>T | CA479696639 | COL2A1 | c.2787T>A (p.Pro929=) c.2994T>A (p.Pro998=) n.2080T>A c.3138T>A (p.Pro1046=) c.3135T>A (p.Pro1045=) c.2082T>A (p.Pro694=) c.2928T>A (p.Pro976=) c.2448T>A (p.Pro816=) | |
| 12 | g.47978301G>A | CA6534937 | COL2A1 | c.2786C>T (p.Pro929Leu) c.2993C>T (p.Pro998Leu) n.2079C>T c.3137C>T (p.Pro1046Leu) c.3134C>T (p.Pro1045Leu) c.2081C>T (p.Pro694Leu) c.2927C>T (p.Pro976Leu) c.2447C>T (p.Pro816Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978301G>C | CA384541121 | COL2A1 | c.2786C>G (p.Pro929Arg) c.2993C>G (p.Pro998Arg) n.2079C>G c.3137C>G (p.Pro1046Arg) c.3134C>G (p.Pro1045Arg) c.2081C>G (p.Pro694Arg) c.2927C>G (p.Pro976Arg) c.2447C>G (p.Pro816Arg) | dbSNP |
| 12 | g.47978301G= | CA2034476817 | COL2A1 | c.2786C= (p.Pro929=) c.2993C= (p.Pro998=) n.2079C= c.3137C= (p.Pro1046=) c.3134C= (p.Pro1045=) c.2081C= (p.Pro694=) c.2927C= (p.Pro976=) c.2447C= (p.Pro816=) | |
| 12 | g.47978301G>T | CA384541123 | COL2A1 | c.2786C>A (p.Pro929His) c.2993C>A (p.Pro998His) n.2079C>A c.3137C>A (p.Pro1046His) c.3134C>A (p.Pro1045His) c.2081C>A (p.Pro694His) c.2927C>A (p.Pro976His) c.2447C>A (p.Pro816His) | |
| 12 | g.47978302G>A | CA384541126 | COL2A1 | c.2785C>T (p.Pro929Ser) c.2992C>T (p.Pro998Ser) n.2078C>T c.3136C>T (p.Pro1046Ser) c.3133C>T (p.Pro1045Ser) c.2080C>T (p.Pro694Ser) c.2926C>T (p.Pro976Ser) c.2446C>T (p.Pro816Ser) | dbSNP gnomAD v2 |
| 12 | g.47978302G>C | CA384541128 | COL2A1 | c.2785C>G (p.Pro929Ala) c.2992C>G (p.Pro998Ala) n.2078C>G c.3136C>G (p.Pro1046Ala) c.3133C>G (p.Pro1045Ala) c.2080C>G (p.Pro694Ala) c.2926C>G (p.Pro976Ala) c.2446C>G (p.Pro816Ala) | |
| 12 | g.47978302G= | CA2034476818 | COL2A1 | c.2785C= (p.Pro929=) c.2992C= (p.Pro998=) n.2078C= c.3136C= (p.Pro1046=) c.3133C= (p.Pro1045=) c.2080C= (p.Pro694=) c.2926C= (p.Pro976=) c.2446C= (p.Pro816=) | |
| 12 | g.47978302G>T | CA6534938 | COL2A1 | c.2785C>A (p.Pro929Thr) c.2992C>A (p.Pro998Thr) n.2078C>A c.3136C>A (p.Pro1046Thr) c.3133C>A (p.Pro1045Thr) c.2080C>A (p.Pro694Thr) c.2926C>A (p.Pro976Thr) c.2446C>A (p.Pro816Thr) | dbSNP ExAC gnomAD v2 |
| 12 | g.47978303del | CA2575137425 | COL2A1 | c.2784del (p.Leu928PhefsTer?) c.2991del (p.Leu997PhefsTer?) n.2077del c.3135del (p.Leu1045PhefsTer?) c.3132del (p.Leu1044PhefsTer?) c.2079del (p.Leu693PhefsTer?) c.2925del (p.Leu975PhefsTer?) c.2445del (p.Leu815PhefsTer?) | |
| 12 | g.47978303C>A | CA384541130 | COL2A1 | c.2784G>T (p.Leu928Phe) c.2991G>T (p.Leu997Phe) n.2077G>T c.3135G>T (p.Leu1045Phe) c.3132G>T (p.Leu1044Phe) c.2079G>T (p.Leu693Phe) c.2925G>T (p.Leu975Phe) c.2445G>T (p.Leu815Phe) | dbSNP |
| 12 | g.47978303C= | CA2034476819 | COL2A1 | c.2784G= (p.Leu928=) c.2991G= (p.Leu997=) n.2077G= c.3135G= (p.Leu1045=) c.3132G= (p.Leu1044=) c.2079G= (p.Leu693=) c.2925G= (p.Leu975=) c.2445G= (p.Leu815=) | |
| 12 | g.47978303C>G | CA384541132 | COL2A1 | c.2784G>C (p.Leu928Phe) c.2991G>C (p.Leu997Phe) n.2077G>C c.3135G>C (p.Leu1045Phe) c.3132G>C (p.Leu1044Phe) c.2079G>C (p.Leu693Phe) c.2925G>C (p.Leu975Phe) c.2445G>C (p.Leu815Phe) | |
| 12 | g.47978303C>T | CA479696640 | COL2A1 | c.2784G>A (p.Leu928=) c.2991G>A (p.Leu997=) n.2077G>A c.3135G>A (p.Leu1045=) c.3132G>A (p.Leu1044=) c.2079G>A (p.Leu693=) c.2925G>A (p.Leu975=) c.2445G>A (p.Leu815=) | |
| 12 | g.47978304A= | CA2034476820 | COL2A1 | c.2783T= (p.Leu928=) c.2990T= (p.Leu997=) n.2076T= c.3134T= (p.Leu1045=) c.3131T= (p.Leu1044=) c.2078T= (p.Leu693=) c.2924T= (p.Leu975=) c.2444T= (p.Leu815=) | |
| 12 | g.47978304A>C | CA384541134 | COL2A1 | c.2783T>G (p.Leu928Trp) c.2990T>G (p.Leu997Trp) n.2076T>G c.3134T>G (p.Leu1045Trp) c.3131T>G (p.Leu1044Trp) c.2078T>G (p.Leu693Trp) c.2924T>G (p.Leu975Trp) c.2444T>G (p.Leu815Trp) | dbSNP gnomAD v4 |
| 12 | g.47978304A>G | CA384541136 | COL2A1 | c.2783T>C (p.Leu928Ser) c.2990T>C (p.Leu997Ser) n.2076T>C c.3134T>C (p.Leu1045Ser) c.3131T>C (p.Leu1044Ser) c.2078T>C (p.Leu693Ser) c.2924T>C (p.Leu975Ser) c.2444T>C (p.Leu815Ser) | |
| 12 | g.47978304A>T | CA384541138 | COL2A1 | c.2783T>A (p.Leu928Ter) c.2990T>A (p.Leu997Ter) n.2076T>A c.3134T>A (p.Leu1045Ter) c.3131T>A (p.Leu1044Ter) c.2078T>A (p.Leu693Ter) c.2924T>A (p.Leu975Ter) c.2444T>A (p.Leu815Ter) | |
| 12 | g.47978305A>C | CA384541140 | COL2A1 | c.2782T>G (p.Leu928Val) c.2989T>G (p.Leu997Val) n.2075T>G c.3133T>G (p.Leu1045Val) c.3130T>G (p.Leu1044Val) c.2077T>G (p.Leu693Val) c.2923T>G (p.Leu975Val) c.2443T>G (p.Leu815Val) | |
| 12 | g.47978305A>G | CA479696641 | COL2A1 | c.2782T>C (p.Leu928=) c.2989T>C (p.Leu997=) n.2075T>C c.3133T>C (p.Leu1045=) c.3130T>C (p.Leu1044=) c.2077T>C (p.Leu693=) c.2923T>C (p.Leu975=) c.2443T>C (p.Leu815=) | |
| 12 | g.47978305A>T | CA384541142 | COL2A1 | c.2782T>A (p.Leu928Met) c.2989T>A (p.Leu997Met) n.2075T>A c.3133T>A (p.Leu1045Met) c.3130T>A (p.Leu1044Met) c.2077T>A (p.Leu693Met) c.2923T>A (p.Leu975Met) c.2443T>A (p.Leu815Met) | |
| 12 | g.47978306G>A | CA479696643 | COL2A1 | c.2781C>T (p.Gly927=) c.2988C>T (p.Gly996=) n.2074C>T c.3132C>T (p.Gly1044=) c.3129C>T (p.Gly1043=) c.2076C>T (p.Gly692=) c.2922C>T (p.Gly974=) c.2442C>T (p.Gly814=) | |
| 12 | g.47978306G>C | CA479696644 | COL2A1 | c.2781C>G (p.Gly927=) c.2988C>G (p.Gly996=) n.2074C>G c.3132C>G (p.Gly1044=) c.3129C>G (p.Gly1043=) c.2076C>G (p.Gly692=) c.2922C>G (p.Gly974=) c.2442C>G (p.Gly814=) | |
| 12 | g.47978306G>T | CA479696642 | COL2A1 | c.2781C>A (p.Gly927=) c.2988C>A (p.Gly996=) n.2074C>A c.3132C>A (p.Gly1044=) c.3129C>A (p.Gly1043=) c.2076C>A (p.Gly692=) c.2922C>A (p.Gly974=) c.2442C>A (p.Gly814=) | gnomAD v4 |
| 12 | g.47978307C>A | CA384541144 | COL2A1 | c.2780G>T (p.Gly927Val) c.2987G>T (p.Gly996Val) n.2073G>T c.3131G>T (p.Gly1044Val) c.3128G>T (p.Gly1043Val) c.2075G>T (p.Gly692Val) c.2921G>T (p.Gly974Val) c.2441G>T (p.Gly814Val) | |
| 12 | g.47978307C>G | CA384541148 | COL2A1 | c.2780G>C (p.Gly927Ala) c.2987G>C (p.Gly996Ala) n.2073G>C c.3131G>C (p.Gly1044Ala) c.3128G>C (p.Gly1043Ala) c.2075G>C (p.Gly692Ala) c.2921G>C (p.Gly974Ala) c.2441G>C (p.Gly814Ala) | |
| 12 | g.47978307C>T | CA384541146 | COL2A1 | c.2780G>A (p.Gly927Asp) c.2987G>A (p.Gly996Asp) n.2073G>A c.3131G>A (p.Gly1044Asp) c.3128G>A (p.Gly1043Asp) c.2075G>A (p.Gly692Asp) c.2921G>A (p.Gly974Asp) c.2441G>A (p.Gly814Asp) | |
| 12 | g.47978308C>A | CA384541151 | COL2A1 | c.2779G>T (p.Gly927Cys) c.2986G>T (p.Gly996Cys) n.2072G>T c.3130G>T (p.Gly1044Cys) c.3127G>T (p.Gly1043Cys) c.2074G>T (p.Gly692Cys) c.2920G>T (p.Gly974Cys) c.2440G>T (p.Gly814Cys) | |
| 12 | g.47978308C>G | CA384541153 | COL2A1 | c.2779G>C (p.Gly927Arg) c.2986G>C (p.Gly996Arg) n.2072G>C c.3130G>C (p.Gly1044Arg) c.3127G>C (p.Gly1043Arg) c.2074G>C (p.Gly692Arg) c.2920G>C (p.Gly974Arg) c.2440G>C (p.Gly814Arg) | |
| 12 | g.47978308C>T | CA384541154 | COL2A1 | c.2779G>A (p.Gly927Ser) c.2986G>A (p.Gly996Ser) n.2072G>A c.3130G>A (p.Gly1044Ser) c.3127G>A (p.Gly1043Ser) c.2074G>A (p.Gly692Ser) c.2920G>A (p.Gly974Ser) c.2440G>A (p.Gly814Ser) | |
| 12 | g.47978309A>C | CA479696645 | COL2A1 | c.2778T>G (p.Pro926=) c.2985T>G (p.Pro995=) n.2071T>G c.3129T>G (p.Pro1043=) c.3126T>G (p.Pro1042=) c.2073T>G (p.Pro691=) c.2919T>G (p.Pro973=) c.2439T>G (p.Pro813=) | |
| 12 | g.47978309A>G | CA479696646 | COL2A1 | c.2778T>C (p.Pro926=) c.2985T>C (p.Pro995=) n.2071T>C c.3129T>C (p.Pro1043=) c.3126T>C (p.Pro1042=) c.2073T>C (p.Pro691=) c.2919T>C (p.Pro973=) c.2439T>C (p.Pro813=) | gnomAD v4 |
| 12 | g.47978309A>T | CA479696647 | COL2A1 | c.2778T>A (p.Pro926=) c.2985T>A (p.Pro995=) n.2071T>A c.3129T>A (p.Pro1043=) c.3126T>A (p.Pro1042=) c.2073T>A (p.Pro691=) c.2919T>A (p.Pro973=) c.2439T>A (p.Pro813=) | |
| 12 | g.47978310G>A | CA384541157 | COL2A1 | c.2777C>T (p.Pro926Leu) c.2984C>T (p.Pro995Leu) n.2070C>T c.3128C>T (p.Pro1043Leu) c.3125C>T (p.Pro1042Leu) c.2072C>T (p.Pro691Leu) c.2918C>T (p.Pro973Leu) c.2438C>T (p.Pro813Leu) | |
| 12 | g.47978310G>C | CA384541158 | COL2A1 | c.2777C>G (p.Pro926Arg) c.2984C>G (p.Pro995Arg) n.2070C>G c.3128C>G (p.Pro1043Arg) c.3125C>G (p.Pro1042Arg) c.2072C>G (p.Pro691Arg) c.2918C>G (p.Pro973Arg) c.2438C>G (p.Pro813Arg) | |
| 12 | g.47978310G>T | CA384541161 | COL2A1 | c.2777C>A (p.Pro926His) c.2984C>A (p.Pro995His) n.2070C>A c.3128C>A (p.Pro1043His) c.3125C>A (p.Pro1042His) c.2072C>A (p.Pro691His) c.2918C>A (p.Pro973His) c.2438C>A (p.Pro813His) | |
| 12 | g.47978311G>A | CA384541163 | COL2A1 | c.2776C>T (p.Pro926Ser) c.2983C>T (p.Pro995Ser) n.2069C>T c.3127C>T (p.Pro1043Ser) c.3124C>T (p.Pro1042Ser) c.2071C>T (p.Pro691Ser) c.2917C>T (p.Pro973Ser) c.2437C>T (p.Pro813Ser) | |
| 12 | g.47978311G>C | CA384541164 | COL2A1 | c.2776C>G (p.Pro926Ala) c.2983C>G (p.Pro995Ala) n.2069C>G c.3127C>G (p.Pro1043Ala) c.3124C>G (p.Pro1042Ala) c.2071C>G (p.Pro691Ala) c.2917C>G (p.Pro973Ala) c.2437C>G (p.Pro813Ala) | |
| 12 | g.47978311G>T | CA384541166 | COL2A1 | c.2776C>A (p.Pro926Thr) c.2983C>A (p.Pro995Thr) n.2069C>A c.3127C>A (p.Pro1043Thr) c.3124C>A (p.Pro1042Thr) c.2071C>A (p.Pro691Thr) c.2917C>A (p.Pro973Thr) c.2437C>A (p.Pro813Thr) | |
| 12 | g.47978312G>A | CA6534939 | COL2A1 | c.2775C>T (p.Phe925=) c.2982C>T (p.Phe994=) n.2068C>T c.3126C>T (p.Phe1042=) c.3123C>T (p.Phe1041=) c.2070C>T (p.Phe690=) c.2916C>T (p.Phe972=) c.2436C>T (p.Phe812=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978312G>C | CA384541170 | COL2A1 | c.2775C>G (p.Phe925Leu) c.2982C>G (p.Phe994Leu) n.2068C>G c.3126C>G (p.Phe1042Leu) c.3123C>G (p.Phe1041Leu) c.2070C>G (p.Phe690Leu) c.2916C>G (p.Phe972Leu) c.2436C>G (p.Phe812Leu) | |
| 12 | g.47978312G= | CA2034476821 | COL2A1 | c.2775C= (p.Phe925=) c.2982C= (p.Phe994=) n.2068C= c.3126C= (p.Phe1042=) c.3123C= (p.Phe1041=) c.2070C= (p.Phe690=) c.2916C= (p.Phe972=) c.2436C= (p.Phe812=) | |
| 12 | g.47978312G>T | CA384541172 | COL2A1 | c.2775C>A (p.Phe925Leu) c.2982C>A (p.Phe994Leu) n.2068C>A c.3126C>A (p.Phe1042Leu) c.3123C>A (p.Phe1041Leu) c.2070C>A (p.Phe690Leu) c.2916C>A (p.Phe972Leu) c.2436C>A (p.Phe812Leu) | |
| 12 | g.47978313A= | CA2034476822 | COL2A1 | c.2774T= (p.Phe925=) c.2981T= (p.Phe994=) n.2067T= c.3125T= (p.Phe1042=) c.3122T= (p.Phe1041=) c.2069T= (p.Phe690=) c.2915T= (p.Phe972=) c.2435T= (p.Phe812=) | |
| 12 | g.47978313A>C | CA384541175 | COL2A1 | c.2774T>G (p.Phe925Cys) c.2981T>G (p.Phe994Cys) n.2067T>G c.3125T>G (p.Phe1042Cys) c.3122T>G (p.Phe1041Cys) c.2069T>G (p.Phe690Cys) c.2915T>G (p.Phe972Cys) c.2435T>G (p.Phe812Cys) | |
| 12 | g.47978313A>G | CA384541179 | COL2A1 | c.2774T>C (p.Phe925Ser) c.2981T>C (p.Phe994Ser) n.2067T>C c.3125T>C (p.Phe1042Ser) c.3122T>C (p.Phe1041Ser) c.2069T>C (p.Phe690Ser) c.2915T>C (p.Phe972Ser) c.2435T>C (p.Phe812Ser) | |
| 12 | g.47978313A>T | CA384541177 | COL2A1 | c.2774T>A (p.Phe925Tyr) c.2981T>A (p.Phe994Tyr) n.2067T>A c.3125T>A (p.Phe1042Tyr) c.3122T>A (p.Phe1041Tyr) c.2069T>A (p.Phe690Tyr) c.2915T>A (p.Phe972Tyr) c.2435T>A (p.Phe812Tyr) | dbSNP gnomAD v3 gnomAD v4 |