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.47978008A= | CA2034476685 | COL2A1 | c.2904+2T= (n.2904+2T=) c.3111+2T= (n.3111+2T=) n.2197+2T= c.3255+2T= (n.3255+2T=) c.3252+2T= (n.3252+2T=) c.2199+2T= (n.2199+2T=) c.3045+2T= (n.3045+2T=) c.2565+2T= (n.2565+2T=) | |
| 12 | g.47978008A>C | CA384540604 | COL2A1 | c.2904+2T>G (n.2904+2T>G) c.3111+2T>G (n.3111+2T>G) n.2197+2T>G c.3255+2T>G (n.3255+2T>G) c.3252+2T>G (n.3252+2T>G) c.2199+2T>G (n.2199+2T>G) c.3045+2T>G (n.3045+2T>G) c.2565+2T>G (n.2565+2T>G) | |
| 12 | g.47978008A>G | CA384540605 | COL2A1 | c.2904+2T>C (n.2904+2T>C) c.3111+2T>C (n.3111+2T>C) n.2197+2T>C c.3255+2T>C (n.3255+2T>C) c.3252+2T>C (n.3252+2T>C) c.2199+2T>C (n.2199+2T>C) c.3045+2T>C (n.3045+2T>C) c.2565+2T>C (n.2565+2T>C) | ClinVar dbSNP |
| 12 | g.47978008A>T | CA384540606 | COL2A1 | c.2904+2T>A (n.2904+2T>A) c.3111+2T>A (n.3111+2T>A) n.2197+2T>A c.3255+2T>A (n.3255+2T>A) c.3252+2T>A (n.3252+2T>A) c.2199+2T>A (n.2199+2T>A) c.3045+2T>A (n.3045+2T>A) c.2565+2T>A (n.2565+2T>A) | ClinVar |
| 12 | g.47978009C>A | CA384540609 | COL2A1 | c.2904+1G>T (n.2904+1G>T) c.3111+1G>T (n.3111+1G>T) n.2197+1G>T c.3255+1G>T (n.3255+1G>T) c.3252+1G>T (n.3252+1G>T) c.2199+1G>T (n.2199+1G>T) c.3045+1G>T (n.3045+1G>T) c.2565+1G>T (n.2565+1G>T) | ClinVar |
| 12 | g.47978009C>G | CA384540608 | COL2A1 | c.2904+1G>C (n.2904+1G>C) c.3111+1G>C (n.3111+1G>C) n.2197+1G>C c.3255+1G>C (n.3255+1G>C) c.3252+1G>C (n.3252+1G>C) c.2199+1G>C (n.2199+1G>C) c.3045+1G>C (n.3045+1G>C) c.2565+1G>C (n.2565+1G>C) | |
| 12 | g.47978009C>T | CA384540607 | COL2A1 | c.2904+1G>A (n.2904+1G>A) c.3111+1G>A (n.3111+1G>A) n.2197+1G>A c.3255+1G>A (n.3255+1G>A) c.3252+1G>A (n.3252+1G>A) c.2199+1G>A (n.2199+1G>A) c.3045+1G>A (n.3045+1G>A) c.2565+1G>A (n.2565+1G>A) | |
| 12 | g.47978010C>A | CA384540610 | COL2A1 | c.2904G>T (p.Glu968Asp) c.3111G>T (p.Glu1037Asp) n.2197G>T c.3255G>T (p.Glu1085Asp) c.3252G>T (p.Glu1084Asp) c.2199G>T (p.Glu733Asp) c.3045G>T (p.Glu1015Asp) c.2565G>T (p.Glu855Asp) | |
| 12 | g.47978010C= | CA2034476686 | COL2A1 | c.2904G= (p.Glu968=) c.3111G= (p.Glu1037=) n.2197G= c.3255G= (p.Glu1085=) c.3252G= (p.Glu1084=) c.2199G= (p.Glu733=) c.3045G= (p.Glu1015=) c.2565G= (p.Glu855=) | |
| 12 | g.47978010C>G | CA384540611 | COL2A1 | c.2904G>C (p.Glu968Asp) c.3111G>C (p.Glu1037Asp) n.2197G>C c.3255G>C (p.Glu1085Asp) c.3252G>C (p.Glu1084Asp) c.2199G>C (p.Glu733Asp) c.3045G>C (p.Glu1015Asp) c.2565G>C (p.Glu855Asp) | |
| 12 | g.47978010C>T | CA479454930 | COL2A1 | c.2904G>A (p.Glu968=) c.3111G>A (p.Glu1037=) n.2197G>A c.3255G>A (p.Glu1085=) c.3252G>A (p.Glu1084=) c.2199G>A (p.Glu733=) c.3045G>A (p.Glu1015=) c.2565G>A (p.Glu855=) | dbSNP gnomAD v4 |
| 12 | g.47978011T>A | CA384540612 | COL2A1 | c.2903A>T (p.Glu968Val) c.3110A>T (p.Glu1037Val) n.2196A>T c.3254A>T (p.Glu1085Val) c.3251A>T (p.Glu1084Val) c.2198A>T (p.Glu733Val) c.3044A>T (p.Glu1015Val) c.2564A>T (p.Glu855Val) | |
| 12 | g.47978011T>C | CA384540613 | COL2A1 | c.2903A>G (p.Glu968Gly) c.3110A>G (p.Glu1037Gly) n.2196A>G c.3254A>G (p.Glu1085Gly) c.3251A>G (p.Glu1084Gly) c.2198A>G (p.Glu733Gly) c.3044A>G (p.Glu1015Gly) c.2564A>G (p.Glu855Gly) | |
| 12 | g.47978011T>G | CA384540614 | COL2A1 | c.2903A>C (p.Glu968Ala) c.3110A>C (p.Glu1037Ala) n.2196A>C c.3254A>C (p.Glu1085Ala) c.3251A>C (p.Glu1084Ala) c.2198A>C (p.Glu733Ala) c.3044A>C (p.Glu1015Ala) c.2564A>C (p.Glu855Ala) | |
| 12 | g.47978012C>A | CA384540615 | COL2A1 | c.2902G>T (p.Glu968Ter) c.3109G>T (p.Glu1037Ter) n.2195G>T c.3253G>T (p.Glu1085Ter) c.3250G>T (p.Glu1084Ter) c.2197G>T (p.Glu733Ter) c.3043G>T (p.Glu1015Ter) c.2563G>T (p.Glu855Ter) | |
| 12 | g.47978012C>G | CA384540616 | COL2A1 | c.2902G>C (p.Glu968Gln) c.3109G>C (p.Glu1037Gln) n.2195G>C c.3253G>C (p.Glu1085Gln) c.3250G>C (p.Glu1084Gln) c.2197G>C (p.Glu733Gln) c.3043G>C (p.Glu1015Gln) c.2563G>C (p.Glu855Gln) | |
| 12 | g.47978012C>T | CA384540617 | COL2A1 | c.2902G>A (p.Glu968Lys) c.3109G>A (p.Glu1037Lys) n.2195G>A c.3253G>A (p.Glu1085Lys) c.3250G>A (p.Glu1084Lys) c.2197G>A (p.Glu733Lys) c.3043G>A (p.Glu1015Lys) c.2563G>A (p.Glu855Lys) | |
| 12 | g.47978013T>A | CA479454938 | COL2A1 | c.2901A>T (p.Arg967=) c.3108A>T (p.Arg1036=) n.2194A>T c.3252A>T (p.Arg1084=) c.3249A>T (p.Arg1083=) c.2196A>T (p.Arg732=) c.3042A>T (p.Arg1014=) c.2562A>T (p.Arg854=) | |
| 12 | g.47978013T>C | CA479454940 | COL2A1 | c.2901A>G (p.Arg967=) c.3108A>G (p.Arg1036=) n.2194A>G c.3252A>G (p.Arg1084=) c.3249A>G (p.Arg1083=) c.2196A>G (p.Arg732=) c.3042A>G (p.Arg1014=) c.2562A>G (p.Arg854=) | |
| 12 | g.47978013T>G | CA479454942 | COL2A1 | c.2901A>C (p.Arg967=) c.3108A>C (p.Arg1036=) n.2194A>C c.3252A>C (p.Arg1084=) c.3249A>C (p.Arg1083=) c.2196A>C (p.Arg732=) c.3042A>C (p.Arg1014=) c.2562A>C (p.Arg854=) | |
| 12 | g.47978014C>A | CA384540618 | COL2A1 | c.2900G>T (p.Arg967Leu) c.3107G>T (p.Arg1036Leu) n.2193G>T c.3251G>T (p.Arg1084Leu) c.3248G>T (p.Arg1083Leu) c.2195G>T (p.Arg732Leu) c.3041G>T (p.Arg1014Leu) c.2561G>T (p.Arg854Leu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978014C= | CA2034476687 | COL2A1 | c.2900G= (p.Arg967=) c.3107G= (p.Arg1036=) n.2193G= c.3251G= (p.Arg1084=) c.3248G= (p.Arg1083=) c.2195G= (p.Arg732=) c.3041G= (p.Arg1014=) c.2561G= (p.Arg854=) | |
| 12 | g.47978014C>G | CA384540619 | COL2A1 | c.2900G>C (p.Arg967Pro) c.3107G>C (p.Arg1036Pro) n.2193G>C c.3251G>C (p.Arg1084Pro) c.3248G>C (p.Arg1083Pro) c.2195G>C (p.Arg732Pro) c.3041G>C (p.Arg1014Pro) c.2561G>C (p.Arg854Pro) | |
| 12 | g.47978014C>T | CA6534898 | COL2A1 | c.2900G>A (p.Arg967Gln) c.3107G>A (p.Arg1036Gln) n.2193G>A c.3251G>A (p.Arg1084Gln) c.3248G>A (p.Arg1083Gln) c.2195G>A (p.Arg732Gln) c.3041G>A (p.Arg1014Gln) c.2561G>A (p.Arg854Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978015G>A | CA303000 | COL2A1 | c.2899C>T (p.Arg967Ter) c.3106C>T (p.Arg1036Ter) n.2192C>T c.3250C>T (p.Arg1084Ter) c.3247C>T (p.Arg1083Ter) c.2194C>T (p.Arg732Ter) c.3040C>T (p.Arg1014Ter) c.2560C>T (p.Arg854Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978015G>C | CA6534899 | COL2A1 | c.2899C>G (p.Arg967Gly) c.3106C>G (p.Arg1036Gly) n.2192C>G c.3250C>G (p.Arg1084Gly) c.3247C>G (p.Arg1083Gly) c.2194C>G (p.Arg732Gly) c.3040C>G (p.Arg1014Gly) c.2560C>G (p.Arg854Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978015G= | CA2034476688 | COL2A1 | c.2899C= (p.Arg967=) c.3106C= (p.Arg1036=) n.2192C= c.3250C= (p.Arg1084=) c.3247C= (p.Arg1083=) c.2194C= (p.Arg732=) c.3040C= (p.Arg1014=) c.2560C= (p.Arg854=) | |
| 12 | g.47978015G>T | CA479454950 | COL2A1 | c.2899C>A (p.Arg967=) c.3106C>A (p.Arg1036=) n.2192C>A c.3250C>A (p.Arg1084=) c.3247C>A (p.Arg1083=) c.2194C>A (p.Arg732=) c.3040C>A (p.Arg1014=) c.2560C>A (p.Arg854=) | |
| 12 | g.47978016T>A | CA479454952 | COL2A1 | c.2898A>T (p.Gly966=) c.3105A>T (p.Gly1035=) n.2191A>T c.3249A>T (p.Gly1083=) c.3246A>T (p.Gly1082=) c.2193A>T (p.Gly731=) c.3039A>T (p.Gly1013=) c.2559A>T (p.Gly853=) | |
| 12 | g.47978016T>C | CA479454954 | COL2A1 | c.2898A>G (p.Gly966=) c.3105A>G (p.Gly1035=) n.2191A>G c.3249A>G (p.Gly1083=) c.3246A>G (p.Gly1082=) c.2193A>G (p.Gly731=) c.3039A>G (p.Gly1013=) c.2559A>G (p.Gly853=) | gnomAD v4 |
| 12 | g.47978016T>G | CA479454956 | COL2A1 | c.2898A>C (p.Gly966=) c.3105A>C (p.Gly1035=) n.2191A>C c.3249A>C (p.Gly1083=) c.3246A>C (p.Gly1082=) c.2193A>C (p.Gly731=) c.3039A>C (p.Gly1013=) c.2559A>C (p.Gly853=) | |
| 12 | g.47978017C>A | CA384540622 | COL2A1 | c.2897G>T (p.Gly966Val) c.3104G>T (p.Gly1035Val) n.2190G>T c.3248G>T (p.Gly1083Val) c.3245G>T (p.Gly1082Val) c.2192G>T (p.Gly731Val) c.3038G>T (p.Gly1013Val) c.2558G>T (p.Gly853Val) | |
| 12 | g.47978017C>G | CA384540620 | COL2A1 | c.2897G>C (p.Gly966Ala) c.3104G>C (p.Gly1035Ala) n.2190G>C c.3248G>C (p.Gly1083Ala) c.3245G>C (p.Gly1082Ala) c.2192G>C (p.Gly731Ala) c.3038G>C (p.Gly1013Ala) c.2558G>C (p.Gly853Ala) | |
| 12 | g.47978017C>T | CA384540621 | COL2A1 | c.2897G>A (p.Gly966Glu) c.3104G>A (p.Gly1035Glu) n.2190G>A c.3248G>A (p.Gly1083Glu) c.3245G>A (p.Gly1082Glu) c.2192G>A (p.Gly731Glu) c.3038G>A (p.Gly1013Glu) c.2558G>A (p.Gly853Glu) | |
| 12 | g.47978018C>A | CA384540623 | COL2A1 | c.2896G>T (p.Gly966Ter) c.3103G>T (p.Gly1035Ter) n.2189G>T c.3247G>T (p.Gly1083Ter) c.3244G>T (p.Gly1082Ter) c.2191G>T (p.Gly731Ter) c.3037G>T (p.Gly1013Ter) c.2557G>T (p.Gly853Ter) | |
| 12 | g.47978018C>G | CA384540624 | COL2A1 | c.2896G>C (p.Gly966Arg) c.3103G>C (p.Gly1035Arg) n.2189G>C c.3247G>C (p.Gly1083Arg) c.3244G>C (p.Gly1082Arg) c.2191G>C (p.Gly731Arg) c.3037G>C (p.Gly1013Arg) c.2557G>C (p.Gly853Arg) | |
| 12 | g.47978018C>T | CA384540625 | COL2A1 | c.2896G>A (p.Gly966Arg) c.3103G>A (p.Gly1035Arg) n.2189G>A c.3247G>A (p.Gly1083Arg) c.3244G>A (p.Gly1082Arg) c.2191G>A (p.Gly731Arg) c.3037G>A (p.Gly1013Arg) c.2557G>A (p.Gly853Arg) | |
| 12 | g.47978019A= | CA2034476689 | COL2A1 | c.2895T= (p.Pro965=) c.3102T= (p.Pro1034=) n.2188T= c.3246T= (p.Pro1082=) c.3243T= (p.Pro1081=) c.2190T= (p.Pro730=) c.3036T= (p.Pro1012=) c.2556T= (p.Pro852=) | |
| 12 | g.47978019A>C | CA479454965 | COL2A1 | c.2895T>G (p.Pro965=) c.3102T>G (p.Pro1034=) n.2188T>G c.3246T>G (p.Pro1082=) c.3243T>G (p.Pro1081=) c.2190T>G (p.Pro730=) c.3036T>G (p.Pro1012=) c.2556T>G (p.Pro852=) | |
| 12 | g.47978019A>G | CA6534900 | COL2A1 | c.2895T>C (p.Pro965=) c.3102T>C (p.Pro1034=) n.2188T>C c.3246T>C (p.Pro1082=) c.3243T>C (p.Pro1081=) c.2190T>C (p.Pro730=) c.3036T>C (p.Pro1012=) c.2556T>C (p.Pro852=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978019A>T | CA479454968 | COL2A1 | c.2895T>A (p.Pro965=) c.3102T>A (p.Pro1034=) n.2188T>A c.3246T>A (p.Pro1082=) c.3243T>A (p.Pro1081=) c.2190T>A (p.Pro730=) c.3036T>A (p.Pro1012=) c.2556T>A (p.Pro852=) | |
| 12 | g.47978020G>A | CA384540626 | COL2A1 | c.2894C>T (p.Pro965Leu) c.3101C>T (p.Pro1034Leu) n.2187C>T c.3245C>T (p.Pro1082Leu) c.3242C>T (p.Pro1081Leu) c.2189C>T (p.Pro730Leu) c.3035C>T (p.Pro1012Leu) c.2555C>T (p.Pro852Leu) | |
| 12 | g.47978020G>C | CA384540627 | COL2A1 | c.2894C>G (p.Pro965Arg) c.3101C>G (p.Pro1034Arg) n.2187C>G c.3245C>G (p.Pro1082Arg) c.3242C>G (p.Pro1081Arg) c.2189C>G (p.Pro730Arg) c.3035C>G (p.Pro1012Arg) c.2555C>G (p.Pro852Arg) | |
| 12 | g.47978020G>T | CA384540628 | COL2A1 | c.2894C>A (p.Pro965His) c.3101C>A (p.Pro1034His) n.2187C>A c.3245C>A (p.Pro1082His) c.3242C>A (p.Pro1081His) c.2189C>A (p.Pro730His) c.3035C>A (p.Pro1012His) c.2555C>A (p.Pro852His) | |
| 12 | g.47978021G>A | CA236521577 | COL2A1 | c.2893C>T (p.Pro965Ser) c.3100C>T (p.Pro1034Ser) n.2186C>T c.3244C>T (p.Pro1082Ser) c.3241C>T (p.Pro1081Ser) c.2188C>T (p.Pro730Ser) c.3034C>T (p.Pro1012Ser) c.2554C>T (p.Pro852Ser) | dbSNP gnomAD v4 |
| 12 | g.47978021G>C | CA384540629 | COL2A1 | c.2893C>G (p.Pro965Ala) c.3100C>G (p.Pro1034Ala) n.2186C>G c.3244C>G (p.Pro1082Ala) c.3241C>G (p.Pro1081Ala) c.2188C>G (p.Pro730Ala) c.3034C>G (p.Pro1012Ala) c.2554C>G (p.Pro852Ala) | |
| 12 | g.47978021G= | CA2034476690 | COL2A1 | c.2893C= (p.Pro965=) c.3100C= (p.Pro1034=) n.2186C= c.3244C= (p.Pro1082=) c.3241C= (p.Pro1081=) c.2188C= (p.Pro730=) c.3034C= (p.Pro1012=) c.2554C= (p.Pro852=) | |
| 12 | g.47978021G>T | CA384540630 | COL2A1 | c.2893C>A (p.Pro965Thr) c.3100C>A (p.Pro1034Thr) n.2186C>A c.3244C>A (p.Pro1082Thr) c.3241C>A (p.Pro1081Thr) c.2188C>A (p.Pro730Thr) c.3034C>A (p.Pro1012Thr) c.2554C>A (p.Pro852Thr) | |
| 12 | g.47978022T>A | CA384540631 | COL2A1 | c.2892A>T (p.Glu964Asp) c.3099A>T (p.Glu1033Asp) n.2185A>T c.3243A>T (p.Glu1081Asp) c.3240A>T (p.Glu1080Asp) c.2187A>T (p.Glu729Asp) c.3033A>T (p.Glu1011Asp) c.2553A>T (p.Glu851Asp) | |
| 12 | g.47978022T>C | CA479454977 | COL2A1 | c.2892A>G (p.Glu964=) c.3099A>G (p.Glu1033=) n.2185A>G c.3243A>G (p.Glu1081=) c.3240A>G (p.Glu1080=) c.2187A>G (p.Glu729=) c.3033A>G (p.Glu1011=) c.2553A>G (p.Glu851=) | |
| 12 | g.47978022T>G | CA384540632 | COL2A1 | c.2892A>C (p.Glu964Asp) c.3099A>C (p.Glu1033Asp) n.2185A>C c.3243A>C (p.Glu1081Asp) c.3240A>C (p.Glu1080Asp) c.2187A>C (p.Glu729Asp) c.3033A>C (p.Glu1011Asp) c.2553A>C (p.Glu851Asp) | |
| 12 | g.47978023T>A | CA384540633 | COL2A1 | c.2891A>T (p.Glu964Val) c.3098A>T (p.Glu1033Val) n.2184A>T c.3242A>T (p.Glu1081Val) c.3239A>T (p.Glu1080Val) c.2186A>T (p.Glu729Val) c.3032A>T (p.Glu1011Val) c.2552A>T (p.Glu851Val) | |
| 12 | g.47978023T>C | CA384540635 | COL2A1 | c.2891A>G (p.Glu964Gly) c.3098A>G (p.Glu1033Gly) n.2184A>G c.3242A>G (p.Glu1081Gly) c.3239A>G (p.Glu1080Gly) c.2186A>G (p.Glu729Gly) c.3032A>G (p.Glu1011Gly) c.2552A>G (p.Glu851Gly) | |
| 12 | g.47978023T>G | CA384540634 | COL2A1 | c.2891A>C (p.Glu964Ala) c.3098A>C (p.Glu1033Ala) n.2184A>C c.3242A>C (p.Glu1081Ala) c.3239A>C (p.Glu1080Ala) c.2186A>C (p.Glu729Ala) c.3032A>C (p.Glu1011Ala) c.2552A>C (p.Glu851Ala) | |
| 12 | g.47978024C>A | CA384540636 | COL2A1 | c.2890G>T (p.Glu964Ter) c.3097G>T (p.Glu1033Ter) n.2183G>T c.3241G>T (p.Glu1081Ter) c.3238G>T (p.Glu1080Ter) c.2185G>T (p.Glu729Ter) c.3031G>T (p.Glu1011Ter) c.2551G>T (p.Glu851Ter) | |
| 12 | g.47978024C>G | CA384540637 | COL2A1 | c.2890G>C (p.Glu964Gln) c.3097G>C (p.Glu1033Gln) n.2183G>C c.3241G>C (p.Glu1081Gln) c.3238G>C (p.Glu1080Gln) c.2185G>C (p.Glu729Gln) c.3031G>C (p.Glu1011Gln) c.2551G>C (p.Glu851Gln) | |
| 12 | g.47978024C>T | CA384540638 | COL2A1 | c.2890G>A (p.Glu964Lys) c.3097G>A (p.Glu1033Lys) n.2183G>A c.3241G>A (p.Glu1081Lys) c.3238G>A (p.Glu1080Lys) c.2185G>A (p.Glu729Lys) c.3031G>A (p.Glu1011Lys) c.2551G>A (p.Glu851Lys) | COSMIC COSMIC |
| 12 | g.47978025A>C | CA479454987 | COL2A1 | c.2889T>G (p.Gly963=) c.3096T>G (p.Gly1032=) n.2182T>G c.3240T>G (p.Gly1080=) c.3237T>G (p.Gly1079=) c.2184T>G (p.Gly728=) c.3030T>G (p.Gly1010=) c.2550T>G (p.Gly850=) | |
| 12 | g.47978025A>G | CA479454988 | COL2A1 | c.2889T>C (p.Gly963=) c.3096T>C (p.Gly1032=) n.2182T>C c.3240T>C (p.Gly1080=) c.3237T>C (p.Gly1079=) c.2184T>C (p.Gly728=) c.3030T>C (p.Gly1010=) c.2550T>C (p.Gly850=) | |
| 12 | g.47978025A>T | CA479454990 | COL2A1 | c.2889T>A (p.Gly963=) c.3096T>A (p.Gly1032=) n.2182T>A c.3240T>A (p.Gly1080=) c.3237T>A (p.Gly1079=) c.2184T>A (p.Gly728=) c.3030T>A (p.Gly1010=) c.2550T>A (p.Gly850=) | |
| 12 | g.47978026C>A | CA384540639 | COL2A1 | c.2888G>T (p.Gly963Val) c.3095G>T (p.Gly1032Val) n.2181G>T c.3239G>T (p.Gly1080Val) c.3236G>T (p.Gly1079Val) c.2183G>T (p.Gly728Val) c.3029G>T (p.Gly1010Val) c.2549G>T (p.Gly850Val) | |
| 12 | g.47978026C>G | CA384540640 | COL2A1 | c.2888G>C (p.Gly963Ala) c.3095G>C (p.Gly1032Ala) n.2181G>C c.3239G>C (p.Gly1080Ala) c.3236G>C (p.Gly1079Ala) c.2183G>C (p.Gly728Ala) c.3029G>C (p.Gly1010Ala) c.2549G>C (p.Gly850Ala) | |
| 12 | g.47978026C>T | CA384540641 | COL2A1 | c.2888G>A (p.Gly963Asp) c.3095G>A (p.Gly1032Asp) n.2181G>A c.3239G>A (p.Gly1080Asp) c.3236G>A (p.Gly1079Asp) c.2183G>A (p.Gly728Asp) c.3029G>A (p.Gly1010Asp) c.2549G>A (p.Gly850Asp) | |
| 12 | g.47978027C>A | CA384540644 | COL2A1 | c.2887G>T (p.Gly963Cys) c.3094G>T (p.Gly1032Cys) n.2180G>T c.3238G>T (p.Gly1080Cys) c.3235G>T (p.Gly1079Cys) c.2182G>T (p.Gly728Cys) c.3028G>T (p.Gly1010Cys) c.2548G>T (p.Gly850Cys) | |
| 12 | g.47978027C>G | CA384540643 | COL2A1 | c.2887G>C (p.Gly963Arg) c.3094G>C (p.Gly1032Arg) n.2180G>C c.3238G>C (p.Gly1080Arg) c.3235G>C (p.Gly1079Arg) c.2182G>C (p.Gly728Arg) c.3028G>C (p.Gly1010Arg) c.2548G>C (p.Gly850Arg) | |
| 12 | g.47978027C>T | CA384540642 | COL2A1 | c.2887G>A (p.Gly963Ser) c.3094G>A (p.Gly1032Ser) n.2180G>A c.3238G>A (p.Gly1080Ser) c.3235G>A (p.Gly1079Ser) c.2182G>A (p.Gly728Ser) c.3028G>A (p.Gly1010Ser) c.2548G>A (p.Gly850Ser) | |
| 12 | g.47978028T>A | CA479454998 | COL2A1 | c.2886A>T (p.Ala962=) c.3093A>T (p.Ala1031=) n.2179A>T c.3237A>T (p.Ala1079=) c.3234A>T (p.Ala1078=) c.2181A>T (p.Ala727=) c.3027A>T (p.Ala1009=) c.2547A>T (p.Ala849=) | |
| 12 | g.47978028T>C | CA479455001 | COL2A1 | c.2886A>G (p.Ala962=) c.3093A>G (p.Ala1031=) n.2179A>G c.3237A>G (p.Ala1079=) c.3234A>G (p.Ala1078=) c.2181A>G (p.Ala727=) c.3027A>G (p.Ala1009=) c.2547A>G (p.Ala849=) | |
| 12 | g.47978028T>G | CA479454999 | COL2A1 | c.2886A>C (p.Ala962=) c.3093A>C (p.Ala1031=) n.2179A>C c.3237A>C (p.Ala1079=) c.3234A>C (p.Ala1078=) c.2181A>C (p.Ala727=) c.3027A>C (p.Ala1009=) c.2547A>C (p.Ala849=) | |
| 12 | g.47978029G>A | CA384540645 | COL2A1 | c.2885C>T (p.Ala962Val) c.3092C>T (p.Ala1031Val) n.2178C>T c.3236C>T (p.Ala1079Val) c.3233C>T (p.Ala1078Val) c.2180C>T (p.Ala727Val) c.3026C>T (p.Ala1009Val) c.2546C>T (p.Ala849Val) | |
| 12 | g.47978029G>C | CA384540646 | COL2A1 | c.2885C>G (p.Ala962Gly) c.3092C>G (p.Ala1031Gly) n.2178C>G c.3236C>G (p.Ala1079Gly) c.3233C>G (p.Ala1078Gly) c.2180C>G (p.Ala727Gly) c.3026C>G (p.Ala1009Gly) c.2546C>G (p.Ala849Gly) | |
| 12 | g.47978029G>T | CA384540647 | COL2A1 | c.2885C>A (p.Ala962Glu) c.3092C>A (p.Ala1031Glu) n.2178C>A c.3236C>A (p.Ala1079Glu) c.3233C>A (p.Ala1078Glu) c.2180C>A (p.Ala727Glu) c.3026C>A (p.Ala1009Glu) c.2546C>A (p.Ala849Glu) | |
| 12 | g.47978030C>A | CA384540648 | COL2A1 | c.2884G>T (p.Ala962Ser) c.3091G>T (p.Ala1031Ser) n.2177G>T c.3235G>T (p.Ala1079Ser) c.3232G>T (p.Ala1078Ser) c.2179G>T (p.Ala727Ser) c.3025G>T (p.Ala1009Ser) c.2545G>T (p.Ala849Ser) | gnomAD v4 |
| 12 | g.47978030C>G | CA384540649 | COL2A1 | c.2884G>C (p.Ala962Pro) c.3091G>C (p.Ala1031Pro) n.2177G>C c.3235G>C (p.Ala1079Pro) c.3232G>C (p.Ala1078Pro) c.2179G>C (p.Ala727Pro) c.3025G>C (p.Ala1009Pro) c.2545G>C (p.Ala849Pro) | |
| 12 | g.47978030C>T | CA384540650 | COL2A1 | c.2884G>A (p.Ala962Thr) c.3091G>A (p.Ala1031Thr) n.2177G>A c.3235G>A (p.Ala1079Thr) c.3232G>A (p.Ala1078Thr) c.2179G>A (p.Ala727Thr) c.3025G>A (p.Ala1009Thr) c.2545G>A (p.Ala849Thr) | |
| 12 | g.47978031A>C | CA479455012 | COL2A1 | c.2883T>G (p.Pro961=) c.3090T>G (p.Pro1030=) n.2176T>G c.3234T>G (p.Pro1078=) c.3231T>G (p.Pro1077=) c.2178T>G (p.Pro726=) c.3024T>G (p.Pro1008=) c.2544T>G (p.Pro848=) | |
| 12 | g.47978031A>G | CA479455010 | COL2A1 | c.2883T>C (p.Pro961=) c.3090T>C (p.Pro1030=) n.2176T>C c.3234T>C (p.Pro1078=) c.3231T>C (p.Pro1077=) c.2178T>C (p.Pro726=) c.3024T>C (p.Pro1008=) c.2544T>C (p.Pro848=) | gnomAD v4 |
| 12 | g.47978031A>T | CA479455008 | COL2A1 | c.2883T>A (p.Pro961=) c.3090T>A (p.Pro1030=) n.2176T>A c.3234T>A (p.Pro1078=) c.3231T>A (p.Pro1077=) c.2178T>A (p.Pro726=) c.3024T>A (p.Pro1008=) c.2544T>A (p.Pro848=) | |
| 12 | g.47978032G>A | CA384540653 | COL2A1 | c.2882C>T (p.Pro961Leu) c.3089C>T (p.Pro1030Leu) n.2175C>T c.3233C>T (p.Pro1078Leu) c.3230C>T (p.Pro1077Leu) c.2177C>T (p.Pro726Leu) c.3023C>T (p.Pro1008Leu) c.2543C>T (p.Pro848Leu) | |
| 12 | g.47978032G>C | CA384540651 | COL2A1 | c.2882C>G (p.Pro961Arg) c.3089C>G (p.Pro1030Arg) n.2175C>G c.3233C>G (p.Pro1078Arg) c.3230C>G (p.Pro1077Arg) c.2177C>G (p.Pro726Arg) c.3023C>G (p.Pro1008Arg) c.2543C>G (p.Pro848Arg) | |
| 12 | g.47978032G>T | CA384540652 | COL2A1 | c.2882C>A (p.Pro961His) c.3089C>A (p.Pro1030His) n.2175C>A c.3233C>A (p.Pro1078His) c.3230C>A (p.Pro1077His) c.2177C>A (p.Pro726His) c.3023C>A (p.Pro1008His) c.2543C>A (p.Pro848His) | |
| 12 | g.47978033G>A | CA384540654 | COL2A1 | c.2881C>T (p.Pro961Ser) c.3088C>T (p.Pro1030Ser) n.2174C>T c.3232C>T (p.Pro1078Ser) c.3229C>T (p.Pro1077Ser) c.2176C>T (p.Pro726Ser) c.3022C>T (p.Pro1008Ser) c.2542C>T (p.Pro848Ser) | |
| 12 | g.47978033G>C | CA384540655 | COL2A1 | c.2881C>G (p.Pro961Ala) c.3088C>G (p.Pro1030Ala) n.2174C>G c.3232C>G (p.Pro1078Ala) c.3229C>G (p.Pro1077Ala) c.2176C>G (p.Pro726Ala) c.3022C>G (p.Pro1008Ala) c.2542C>G (p.Pro848Ala) | |
| 12 | g.47978033G>T | CA384540656 | COL2A1 | c.2881C>A (p.Pro961Thr) c.3088C>A (p.Pro1030Thr) n.2174C>A c.3232C>A (p.Pro1078Thr) c.3229C>A (p.Pro1077Thr) c.2176C>A (p.Pro726Thr) c.3022C>A (p.Pro1008Thr) c.2542C>A (p.Pro848Thr) | |
| 12 | g.47978034A>C | CA479455019 | COL2A1 | c.2880T>G (p.Gly960=) c.3087T>G (p.Gly1029=) n.2173T>G c.3231T>G (p.Gly1077=) c.3228T>G (p.Gly1076=) c.2175T>G (p.Gly725=) c.3021T>G (p.Gly1007=) c.2541T>G (p.Gly847=) | |
| 12 | g.47978034A>G | CA479455023 | COL2A1 | c.2880T>C (p.Gly960=) c.3087T>C (p.Gly1029=) n.2173T>C c.3231T>C (p.Gly1077=) c.3228T>C (p.Gly1076=) c.2175T>C (p.Gly725=) c.3021T>C (p.Gly1007=) c.2541T>C (p.Gly847=) | |
| 12 | g.47978034A>T | CA479455021 | COL2A1 | c.2880T>A (p.Gly960=) c.3087T>A (p.Gly1029=) n.2173T>A c.3231T>A (p.Gly1077=) c.3228T>A (p.Gly1076=) c.2175T>A (p.Gly725=) c.3021T>A (p.Gly1007=) c.2541T>A (p.Gly847=) | |
| 12 | g.47978034_47978040delinsCCAGG | CA2695216640 | COL2A1 | c.2874_2880delinsCCTGG (p.Thr959LeufsTer5) c.3081_3087delinsCCTGG (p.Thr1028LeufsTer5) n.2167_2173delinsCCTGG c.3225_3231delinsCCTGG (p.Thr1076LeufsTer5) c.3222_3228delinsCCTGG (p.Thr1075LeufsTer5) c.2169_2175delinsCCTGG (p.Thr724LeufsTer5) c.3015_3021delinsCCTGG (p.Thr1006LeufsTer5) c.2535_2541delinsCCTGG (p.Thr846LeufsTer5) | |
| 12 | g.47978035C>A | CA384540657 | COL2A1 | c.2879G>T (p.Gly960Val) c.3086G>T (p.Gly1029Val) n.2172G>T c.3230G>T (p.Gly1077Val) c.3227G>T (p.Gly1076Val) c.2174G>T (p.Gly725Val) c.3020G>T (p.Gly1007Val) c.2540G>T (p.Gly847Val) | |
| 12 | g.47978035C>G | CA384540658 | COL2A1 | c.2879G>C (p.Gly960Ala) c.3086G>C (p.Gly1029Ala) n.2172G>C c.3230G>C (p.Gly1077Ala) c.3227G>C (p.Gly1076Ala) c.2174G>C (p.Gly725Ala) c.3020G>C (p.Gly1007Ala) c.2540G>C (p.Gly847Ala) | |
| 12 | g.47978035C>T | CA384540659 | COL2A1 | c.2879G>A (p.Gly960Asp) c.3086G>A (p.Gly1029Asp) n.2172G>A c.3230G>A (p.Gly1077Asp) c.3227G>A (p.Gly1076Asp) c.2174G>A (p.Gly725Asp) c.3020G>A (p.Gly1007Asp) c.2540G>A (p.Gly847Asp) | |
| 12 | g.47978036C>A | CA384540660 | COL2A1 | c.2878G>T (p.Gly960Cys) c.3085G>T (p.Gly1029Cys) n.2171G>T c.3229G>T (p.Gly1077Cys) c.3226G>T (p.Gly1076Cys) c.2173G>T (p.Gly725Cys) c.3019G>T (p.Gly1007Cys) c.2539G>T (p.Gly847Cys) | ClinVar |
| 12 | g.47978036C>G | CA384540661 | COL2A1 | c.2878G>C (p.Gly960Arg) c.3085G>C (p.Gly1029Arg) n.2171G>C c.3229G>C (p.Gly1077Arg) c.3226G>C (p.Gly1076Arg) c.2173G>C (p.Gly725Arg) c.3019G>C (p.Gly1007Arg) c.2539G>C (p.Gly847Arg) | |
| 12 | g.47978036C>T | CA384540662 | COL2A1 | c.2878G>A (p.Gly960Ser) c.3085G>A (p.Gly1029Ser) n.2171G>A c.3229G>A (p.Gly1077Ser) c.3226G>A (p.Gly1076Ser) c.2173G>A (p.Gly725Ser) c.3019G>A (p.Gly1007Ser) c.2539G>A (p.Gly847Ser) | |
| 12 | g.47978037C>A | CA6534901 | COL2A1 | c.2877G>T (p.Thr959=) c.3084G>T (p.Thr1028=) n.2170G>T c.3228G>T (p.Thr1076=) c.3225G>T (p.Thr1075=) c.2172G>T (p.Thr724=) c.3018G>T (p.Thr1006=) c.2538G>T (p.Thr846=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978037C= | CA2034476691 | COL2A1 | c.2877G= (p.Thr959=) c.3084G= (p.Thr1028=) n.2170G= c.3228G= (p.Thr1076=) c.3225G= (p.Thr1075=) c.2172G= (p.Thr724=) c.3018G= (p.Thr1006=) c.2538G= (p.Thr846=) | |
| 12 | g.47978037C>G | CA479455031 | COL2A1 | c.2877G>C (p.Thr959=) c.3084G>C (p.Thr1028=) n.2170G>C c.3228G>C (p.Thr1076=) c.3225G>C (p.Thr1075=) c.2172G>C (p.Thr724=) c.3018G>C (p.Thr1006=) c.2538G>C (p.Thr846=) | |
| 12 | g.47978037C>T | CA236521578 | COL2A1 | c.2877G>A (p.Thr959=) c.3084G>A (p.Thr1028=) n.2170G>A c.3228G>A (p.Thr1076=) c.3225G>A (p.Thr1075=) c.2172G>A (p.Thr724=) c.3018G>A (p.Thr1006=) c.2538G>A (p.Thr846=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978038G>A | CA6534902 | COL2A1 | c.2876C>T (p.Thr959Met) c.3083C>T (p.Thr1028Met) n.2169C>T c.3227C>T (p.Thr1076Met) c.3224C>T (p.Thr1075Met) c.2171C>T (p.Thr724Met) c.3017C>T (p.Thr1006Met) c.2537C>T (p.Thr846Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978038G>C | CA384540666 | COL2A1 | c.2876C>G (p.Thr959Arg) c.3083C>G (p.Thr1028Arg) n.2169C>G c.3227C>G (p.Thr1076Arg) c.3224C>G (p.Thr1075Arg) c.2171C>G (p.Thr724Arg) c.3017C>G (p.Thr1006Arg) c.2537C>G (p.Thr846Arg) | |
| 12 | g.47978038G= | CA2034476692 | COL2A1 | c.2876C= (p.Thr959=) c.3083C= (p.Thr1028=) n.2169C= c.3227C= (p.Thr1076=) c.3224C= (p.Thr1075=) c.2171C= (p.Thr724=) c.3017C= (p.Thr1006=) c.2537C= (p.Thr846=) | |
| 12 | g.47978038G>T | CA384540670 | COL2A1 | c.2876C>A (p.Thr959Lys) c.3083C>A (p.Thr1028Lys) n.2169C>A c.3227C>A (p.Thr1076Lys) c.3224C>A (p.Thr1075Lys) c.2171C>A (p.Thr724Lys) c.3017C>A (p.Thr1006Lys) c.2537C>A (p.Thr846Lys) | |
| 12 | g.47978039T>A | CA384540672 | COL2A1 | c.2875A>T (p.Thr959Ser) c.3082A>T (p.Thr1028Ser) n.2168A>T c.3226A>T (p.Thr1076Ser) c.3223A>T (p.Thr1075Ser) c.2170A>T (p.Thr724Ser) c.3016A>T (p.Thr1006Ser) c.2536A>T (p.Thr846Ser) | ClinVar |
| 12 | g.47978039T>C | CA384540675 | COL2A1 | c.2875A>G (p.Thr959Ala) c.3082A>G (p.Thr1028Ala) n.2168A>G c.3226A>G (p.Thr1076Ala) c.3223A>G (p.Thr1075Ala) c.2170A>G (p.Thr724Ala) c.3016A>G (p.Thr1006Ala) c.2536A>G (p.Thr846Ala) | |
| 12 | g.47978039T>G | CA384540673 | COL2A1 | c.2875A>C (p.Thr959Pro) c.3082A>C (p.Thr1028Pro) n.2168A>C c.3226A>C (p.Thr1076Pro) c.3223A>C (p.Thr1075Pro) c.2170A>C (p.Thr724Pro) c.3016A>C (p.Thr1006Pro) c.2536A>C (p.Thr846Pro) | |
| 12 | g.47978040C>A | CA479455041 | COL2A1 | c.2874G>T (p.Leu958=) c.3081G>T (p.Leu1027=) n.2167G>T c.3225G>T (p.Leu1075=) c.3222G>T (p.Leu1074=) c.2169G>T (p.Leu723=) c.3015G>T (p.Leu1005=) c.2535G>T (p.Leu845=) | |
| 12 | g.47978040C>G | CA479455043 | COL2A1 | c.2874G>C (p.Leu958=) c.3081G>C (p.Leu1027=) n.2167G>C c.3225G>C (p.Leu1075=) c.3222G>C (p.Leu1074=) c.2169G>C (p.Leu723=) c.3015G>C (p.Leu1005=) c.2535G>C (p.Leu845=) | |
| 12 | g.47978040C>T | CA479455044 | COL2A1 | c.2874G>A (p.Leu958=) c.3081G>A (p.Leu1027=) n.2167G>A c.3225G>A (p.Leu1075=) c.3222G>A (p.Leu1074=) c.2169G>A (p.Leu723=) c.3015G>A (p.Leu1005=) c.2535G>A (p.Leu845=) | |
| 12 | g.47978041A>C | CA384540678 | COL2A1 | c.2873T>G (p.Leu958Arg) c.3080T>G (p.Leu1027Arg) n.2166T>G c.3224T>G (p.Leu1075Arg) c.3221T>G (p.Leu1074Arg) c.2168T>G (p.Leu723Arg) c.3014T>G (p.Leu1005Arg) c.2534T>G (p.Leu845Arg) | |
| 12 | g.47978041A>G | CA384540679 | COL2A1 | c.2873T>C (p.Leu958Pro) c.3080T>C (p.Leu1027Pro) n.2166T>C c.3224T>C (p.Leu1075Pro) c.3221T>C (p.Leu1074Pro) c.2168T>C (p.Leu723Pro) c.3014T>C (p.Leu1005Pro) c.2534T>C (p.Leu845Pro) | ClinVar dbSNP |
| 12 | g.47978041A>T | CA384540680 | COL2A1 | c.2873T>A (p.Leu958Gln) c.3080T>A (p.Leu1027Gln) n.2166T>A c.3224T>A (p.Leu1075Gln) c.3221T>A (p.Leu1074Gln) c.2168T>A (p.Leu723Gln) c.3014T>A (p.Leu1005Gln) c.2534T>A (p.Leu845Gln) | |
| 12 | g.47978041_47978059delinsAGGCCAGGAGGACCCACGG | CA2034476693 | COL2A1 | c.2855_2873delinsCCGTGGGTCCTCCTGGCCT (p.Pro952=) c.3062_3080delinsCCGTGGGTCCTCCTGGCCT (p.Pro1021=) n.2148_2166delinsCCGTGGGTCCTCCTGGCCT c.3206_3224delinsCCGTGGGTCCTCCTGGCCT (p.Pro1069=) c.3203_3221delinsCCGTGGGTCCTCCTGGCCT (p.Pro1068=) c.2150_2168delinsCCGTGGGTCCTCCTGGCCT (p.Pro717=) c.2996_3014delinsCCGTGGGTCCTCCTGGCCT (p.Pro999=) c.2516_2534delinsCCGTGGGTCCTCCTGGCCT (p.Pro839=) | |
| 12 | g.47978042G>A | CA6534903 | COL2A1 | c.2872C>T (p.Leu958=) c.3079C>T (p.Leu1027=) n.2165C>T c.3223C>T (p.Leu1075=) c.3220C>T (p.Leu1074=) c.2167C>T (p.Leu723=) c.3013C>T (p.Leu1005=) c.2533C>T (p.Leu845=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978042G>C | CA384540684 | COL2A1 | c.2872C>G (p.Leu958Val) c.3079C>G (p.Leu1027Val) n.2165C>G c.3223C>G (p.Leu1075Val) c.3220C>G (p.Leu1074Val) c.2167C>G (p.Leu723Val) c.3013C>G (p.Leu1005Val) c.2533C>G (p.Leu845Val) | |
| 12 | g.47978042G= | CA2034476694 | COL2A1 | c.2872C= (p.Leu958=) c.3079C= (p.Leu1027=) n.2165C= c.3223C= (p.Leu1075=) c.3220C= (p.Leu1074=) c.2167C= (p.Leu723=) c.3013C= (p.Leu1005=) c.2533C= (p.Leu845=) | |
| 12 | g.47978042G>T | CA384540686 | COL2A1 | c.2872C>A (p.Leu958Met) c.3079C>A (p.Leu1027Met) n.2165C>A c.3223C>A (p.Leu1075Met) c.3220C>A (p.Leu1074Met) c.2167C>A (p.Leu723Met) c.3013C>A (p.Leu1005Met) c.2533C>A (p.Leu845Met) | |
| 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.47978043G>A | CA479455052 | COL2A1 | c.2871C>T (p.Gly957=) c.3078C>T (p.Gly1026=) n.2164C>T c.3222C>T (p.Gly1074=) c.3219C>T (p.Gly1073=) c.2166C>T (p.Gly722=) c.3012C>T (p.Gly1004=) c.2532C>T (p.Gly844=) | dbSNP |
| 12 | g.47978043G>C | CA479455054 | COL2A1 | c.2871C>G (p.Gly957=) c.3078C>G (p.Gly1026=) n.2164C>G c.3222C>G (p.Gly1074=) c.3219C>G (p.Gly1073=) c.2166C>G (p.Gly722=) c.3012C>G (p.Gly1004=) c.2532C>G (p.Gly844=) | |
| 12 | g.47978043G= | CA2034476696 | COL2A1 | c.2871C= (p.Gly957=) c.3078C= (p.Gly1026=) n.2164C= c.3222C= (p.Gly1074=) c.3219C= (p.Gly1073=) c.2166C= (p.Gly722=) c.3012C= (p.Gly1004=) c.2532C= (p.Gly844=) | |
| 12 | g.47978043G>T | CA479455055 | COL2A1 | c.2871C>A (p.Gly957=) c.3078C>A (p.Gly1026=) n.2164C>A c.3222C>A (p.Gly1074=) c.3219C>A (p.Gly1073=) c.2166C>A (p.Gly722=) c.3012C>A (p.Gly1004=) c.2532C>A (p.Gly844=) | |
| 12 | g.47978044C>A | CA384540688 | COL2A1 | c.2870G>T (p.Gly957Val) c.3077G>T (p.Gly1026Val) n.2163G>T c.3221G>T (p.Gly1074Val) c.3218G>T (p.Gly1073Val) c.2165G>T (p.Gly722Val) c.3011G>T (p.Gly1004Val) c.2531G>T (p.Gly844Val) | |
| 12 | g.47978044C= | CA2034476697 | COL2A1 | c.2870G= (p.Gly957=) c.3077G= (p.Gly1026=) n.2163G= c.3221G= (p.Gly1074=) c.3218G= (p.Gly1073=) c.2165G= (p.Gly722=) c.3011G= (p.Gly1004=) c.2531G= (p.Gly844=) | |
| 12 | g.47978044C>G | CA384540690 | COL2A1 | c.2870G>C (p.Gly957Ala) c.3077G>C (p.Gly1026Ala) n.2163G>C c.3221G>C (p.Gly1074Ala) c.3218G>C (p.Gly1073Ala) c.2165G>C (p.Gly722Ala) c.3011G>C (p.Gly1004Ala) c.2531G>C (p.Gly844Ala) | ClinVar dbSNP |
| 12 | g.47978044C>T | CA384540693 | COL2A1 | c.2870G>A (p.Gly957Asp) c.3077G>A (p.Gly1026Asp) n.2163G>A c.3221G>A (p.Gly1074Asp) c.3218G>A (p.Gly1073Asp) c.2165G>A (p.Gly722Asp) c.3011G>A (p.Gly1004Asp) c.2531G>A (p.Gly844Asp) | ClinVar |
| 12 | g.47978045C>A | CA384540695 | COL2A1 | c.2869G>T (p.Gly957Cys) c.3076G>T (p.Gly1026Cys) n.2162G>T c.3220G>T (p.Gly1074Cys) c.3217G>T (p.Gly1073Cys) c.2164G>T (p.Gly722Cys) c.3010G>T (p.Gly1004Cys) c.2530G>T (p.Gly844Cys) | |
| 12 | g.47978045C>G | CA384540697 | COL2A1 | c.2869G>C (p.Gly957Arg) c.3076G>C (p.Gly1026Arg) n.2162G>C c.3220G>C (p.Gly1074Arg) c.3217G>C (p.Gly1073Arg) c.2164G>C (p.Gly722Arg) c.3010G>C (p.Gly1004Arg) c.2530G>C (p.Gly844Arg) | |
| 12 | g.47978045C>T | CA384540699 | COL2A1 | c.2869G>A (p.Gly957Ser) c.3076G>A (p.Gly1026Ser) n.2162G>A c.3220G>A (p.Gly1074Ser) c.3217G>A (p.Gly1073Ser) c.2164G>A (p.Gly722Ser) c.3010G>A (p.Gly1004Ser) c.2530G>A (p.Gly844Ser) | |
| 12 | g.47978046A= | CA2034476698 | COL2A1 | c.2868T= (p.Pro956=) c.3075T= (p.Pro1025=) n.2161T= c.3219T= (p.Pro1073=) c.3216T= (p.Pro1072=) c.2163T= (p.Pro721=) c.3009T= (p.Pro1003=) c.2529T= (p.Pro843=) | |
| 12 | g.47978046A>C | CA479455065 | COL2A1 | c.2868T>G (p.Pro956=) c.3075T>G (p.Pro1025=) n.2161T>G c.3219T>G (p.Pro1073=) c.3216T>G (p.Pro1072=) c.2163T>G (p.Pro721=) c.3009T>G (p.Pro1003=) c.2529T>G (p.Pro843=) | |
| 12 | g.47978046A>G | CA479455066 | COL2A1 | c.2868T>C (p.Pro956=) c.3075T>C (p.Pro1025=) n.2161T>C c.3219T>C (p.Pro1073=) c.3216T>C (p.Pro1072=) c.2163T>C (p.Pro721=) c.3009T>C (p.Pro1003=) c.2529T>C (p.Pro843=) | ClinVar dbSNP |
| 12 | g.47978046A>T | CA479455068 | COL2A1 | c.2868T>A (p.Pro956=) c.3075T>A (p.Pro1025=) n.2161T>A c.3219T>A (p.Pro1073=) c.3216T>A (p.Pro1072=) c.2163T>A (p.Pro721=) c.3009T>A (p.Pro1003=) c.2529T>A (p.Pro843=) | |
| 12 | g.47978046dup | CA2573148626 | COL2A1 | c.2868dup (p.Gly957TrpfsTer8) c.3075dup (p.Gly1026TrpfsTer8) n.2161dup c.3219dup (p.Gly1074TrpfsTer8) c.3216dup (p.Gly1073TrpfsTer8) c.2163dup (p.Gly722TrpfsTer8) c.3009dup (p.Gly1004TrpfsTer8) c.2529dup (p.Gly844TrpfsTer8) | ClinVar dbSNP |
| 12 | g.47978047G>A | CA384540705 | COL2A1 | c.2867C>T (p.Pro956Leu) c.3074C>T (p.Pro1025Leu) n.2160C>T c.3218C>T (p.Pro1073Leu) c.3215C>T (p.Pro1072Leu) c.2162C>T (p.Pro721Leu) c.3008C>T (p.Pro1003Leu) c.2528C>T (p.Pro843Leu) | |
| 12 | g.47978047G>C | CA384540703 | COL2A1 | c.2867C>G (p.Pro956Arg) c.3074C>G (p.Pro1025Arg) n.2160C>G c.3218C>G (p.Pro1073Arg) c.3215C>G (p.Pro1072Arg) c.2162C>G (p.Pro721Arg) c.3008C>G (p.Pro1003Arg) c.2528C>G (p.Pro843Arg) | |
| 12 | g.47978047G>T | CA384540702 | COL2A1 | c.2867C>A (p.Pro956His) c.3074C>A (p.Pro1025His) n.2160C>A c.3218C>A (p.Pro1073His) c.3215C>A (p.Pro1072His) c.2162C>A (p.Pro721His) c.3008C>A (p.Pro1003His) c.2528C>A (p.Pro843His) | |
| 12 | g.47978048G>A | CA384540708 | COL2A1 | c.2866C>T (p.Pro956Ser) c.3073C>T (p.Pro1025Ser) n.2159C>T c.3217C>T (p.Pro1073Ser) c.3214C>T (p.Pro1072Ser) c.2161C>T (p.Pro721Ser) c.3007C>T (p.Pro1003Ser) c.2527C>T (p.Pro843Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978048G>C | CA384540710 | COL2A1 | c.2866C>G (p.Pro956Ala) c.3073C>G (p.Pro1025Ala) n.2159C>G c.3217C>G (p.Pro1073Ala) c.3214C>G (p.Pro1072Ala) c.2161C>G (p.Pro721Ala) c.3007C>G (p.Pro1003Ala) c.2527C>G (p.Pro843Ala) | |
| 12 | g.47978048G= | CA2034476699 | COL2A1 | c.2866C= (p.Pro956=) c.3073C= (p.Pro1025=) n.2159C= c.3217C= (p.Pro1073=) c.3214C= (p.Pro1072=) c.2161C= (p.Pro721=) c.3007C= (p.Pro1003=) c.2527C= (p.Pro843=) | |
| 12 | g.47978048G>T | CA384540711 | COL2A1 | c.2866C>A (p.Pro956Thr) c.3073C>A (p.Pro1025Thr) n.2159C>A c.3217C>A (p.Pro1073Thr) c.3214C>A (p.Pro1072Thr) c.2161C>A (p.Pro721Thr) c.3007C>A (p.Pro1003Thr) c.2527C>A (p.Pro843Thr) | |
| 12 | g.47978049A>C | CA479455076 | COL2A1 | c.2865T>G (p.Pro955=) c.3072T>G (p.Pro1024=) n.2158T>G c.3216T>G (p.Pro1072=) c.3213T>G (p.Pro1071=) c.2160T>G (p.Pro720=) c.3006T>G (p.Pro1002=) c.2526T>G (p.Pro842=) | |
| 12 | g.47978049A>G | CA479455079 | COL2A1 | c.2865T>C (p.Pro955=) c.3072T>C (p.Pro1024=) n.2158T>C c.3216T>C (p.Pro1072=) c.3213T>C (p.Pro1071=) c.2160T>C (p.Pro720=) c.3006T>C (p.Pro1002=) c.2526T>C (p.Pro842=) | gnomAD v4 |
| 12 | g.47978049A>T | CA479455077 | COL2A1 | c.2865T>A (p.Pro955=) c.3072T>A (p.Pro1024=) n.2158T>A c.3216T>A (p.Pro1072=) c.3213T>A (p.Pro1071=) c.2160T>A (p.Pro720=) c.3006T>A (p.Pro1002=) c.2526T>A (p.Pro842=) | |
| 12 | g.47978050G>A | CA384540712 | COL2A1 | c.2864C>T (p.Pro955Leu) c.3071C>T (p.Pro1024Leu) n.2157C>T c.3215C>T (p.Pro1072Leu) c.3212C>T (p.Pro1071Leu) c.2159C>T (p.Pro720Leu) c.3005C>T (p.Pro1002Leu) c.2525C>T (p.Pro842Leu) | COSMIC COSMIC |
| 12 | g.47978050G>C | CA384540715 | COL2A1 | c.2864C>G (p.Pro955Arg) c.3071C>G (p.Pro1024Arg) n.2157C>G c.3215C>G (p.Pro1072Arg) c.3212C>G (p.Pro1071Arg) c.2159C>G (p.Pro720Arg) c.3005C>G (p.Pro1002Arg) c.2525C>G (p.Pro842Arg) | |
| 12 | g.47978050G>T | CA384540717 | COL2A1 | c.2864C>A (p.Pro955His) c.3071C>A (p.Pro1024His) n.2157C>A c.3215C>A (p.Pro1072His) c.3212C>A (p.Pro1071His) c.2159C>A (p.Pro720His) c.3005C>A (p.Pro1002His) c.2525C>A (p.Pro842His) | |
| 12 | g.47978051G>A | CA384540720 | COL2A1 | c.2863C>T (p.Pro955Ser) c.3070C>T (p.Pro1024Ser) n.2156C>T c.3214C>T (p.Pro1072Ser) c.3211C>T (p.Pro1071Ser) c.2158C>T (p.Pro720Ser) c.3004C>T (p.Pro1002Ser) c.2524C>T (p.Pro842Ser) | |
| 12 | g.47978051G>C | CA384540721 | COL2A1 | c.2863C>G (p.Pro955Ala) c.3070C>G (p.Pro1024Ala) n.2156C>G c.3214C>G (p.Pro1072Ala) c.3211C>G (p.Pro1071Ala) c.2158C>G (p.Pro720Ala) c.3004C>G (p.Pro1002Ala) c.2524C>G (p.Pro842Ala) | gnomAD v4 |
| 12 | g.47978051G= | CA2034476700 | COL2A1 | c.2863C= (p.Pro955=) c.3070C= (p.Pro1024=) n.2156C= c.3214C= (p.Pro1072=) c.3211C= (p.Pro1071=) c.2158C= (p.Pro720=) c.3004C= (p.Pro1002=) c.2524C= (p.Pro842=) | |
| 12 | g.47978051G>T | CA384540724 | COL2A1 | c.2863C>A (p.Pro955Thr) c.3070C>A (p.Pro1024Thr) n.2156C>A c.3214C>A (p.Pro1072Thr) c.3211C>A (p.Pro1071Thr) c.2158C>A (p.Pro720Thr) c.3004C>A (p.Pro1002Thr) c.2524C>A (p.Pro842Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978052A>C | CA479455088 | COL2A1 | c.2862T>G (p.Gly954=) c.3069T>G (p.Gly1023=) n.2155T>G c.3213T>G (p.Gly1071=) c.3210T>G (p.Gly1070=) c.2157T>G (p.Gly719=) c.3003T>G (p.Gly1001=) c.2523T>G (p.Gly841=) | |
| 12 | g.47978052A>G | CA479455089 | COL2A1 | c.2862T>C (p.Gly954=) c.3069T>C (p.Gly1023=) n.2155T>C c.3213T>C (p.Gly1071=) c.3210T>C (p.Gly1070=) c.2157T>C (p.Gly719=) c.3003T>C (p.Gly1001=) c.2523T>C (p.Gly841=) | |
| 12 | g.47978052A>T | CA479455091 | COL2A1 | c.2862T>A (p.Gly954=) c.3069T>A (p.Gly1023=) n.2155T>A c.3213T>A (p.Gly1071=) c.3210T>A (p.Gly1070=) c.2157T>A (p.Gly719=) c.3003T>A (p.Gly1001=) c.2523T>A (p.Gly841=) | |
| 12 | g.47978053C>A | CA384540727 | COL2A1 | c.2861G>T (p.Gly954Val) c.3068G>T (p.Gly1023Val) n.2154G>T c.3212G>T (p.Gly1071Val) c.3209G>T (p.Gly1070Val) c.2156G>T (p.Gly719Val) c.3002G>T (p.Gly1001Val) c.2522G>T (p.Gly841Val) | |
| 12 | g.47978053C>G | CA384540728 | COL2A1 | c.2861G>C (p.Gly954Ala) c.3068G>C (p.Gly1023Ala) n.2154G>C c.3212G>C (p.Gly1071Ala) c.3209G>C (p.Gly1070Ala) c.2156G>C (p.Gly719Ala) c.3002G>C (p.Gly1001Ala) c.2522G>C (p.Gly841Ala) | |
| 12 | g.47978053C>T | CA384540730 | COL2A1 | c.2861G>A (p.Gly954Asp) c.3068G>A (p.Gly1023Asp) n.2154G>A c.3212G>A (p.Gly1071Asp) c.3209G>A (p.Gly1070Asp) c.2156G>A (p.Gly719Asp) c.3002G>A (p.Gly1001Asp) c.2522G>A (p.Gly841Asp) | |
| 12 | g.47978054C>A | CA384540733 | COL2A1 | c.2860G>T (p.Gly954Cys) c.3067G>T (p.Gly1023Cys) n.2153G>T c.3211G>T (p.Gly1071Cys) c.3208G>T (p.Gly1070Cys) c.2155G>T (p.Gly719Cys) c.3001G>T (p.Gly1001Cys) c.2521G>T (p.Gly841Cys) | |
| 12 | g.47978054C>G | CA384540736 | COL2A1 | c.2860G>C (p.Gly954Arg) c.3067G>C (p.Gly1023Arg) n.2153G>C c.3211G>C (p.Gly1071Arg) c.3208G>C (p.Gly1070Arg) c.2155G>C (p.Gly719Arg) c.3001G>C (p.Gly1001Arg) c.2521G>C (p.Gly841Arg) | |
| 12 | g.47978054C>T | CA384540735 | COL2A1 | c.2860G>A (p.Gly954Ser) c.3067G>A (p.Gly1023Ser) n.2153G>A c.3211G>A (p.Gly1071Ser) c.3208G>A (p.Gly1070Ser) c.2155G>A (p.Gly719Ser) c.3001G>A (p.Gly1001Ser) c.2521G>A (p.Gly841Ser) | |
| 12 | g.47978055C>A | CA479455101 | COL2A1 | c.2859G>T (p.Val953=) c.3066G>T (p.Val1022=) n.2152G>T c.3210G>T (p.Val1070=) c.3207G>T (p.Val1069=) c.2154G>T (p.Val718=) c.3000G>T (p.Val1000=) c.2520G>T (p.Val840=) | |
| 12 | g.47978055C>G | CA479455106 | COL2A1 | c.2859G>C (p.Val953=) c.3066G>C (p.Val1022=) n.2152G>C c.3210G>C (p.Val1070=) c.3207G>C (p.Val1069=) c.2154G>C (p.Val718=) c.3000G>C (p.Val1000=) c.2520G>C (p.Val840=) | |
| 12 | g.47978055C>T | CA479455104 | COL2A1 | c.2859G>A (p.Val953=) c.3066G>A (p.Val1022=) n.2152G>A c.3210G>A (p.Val1070=) c.3207G>A (p.Val1069=) c.2154G>A (p.Val718=) c.3000G>A (p.Val1000=) c.2520G>A (p.Val840=) | |
| 12 | g.47978056A>C | CA384540739 | COL2A1 | c.2858T>G (p.Val953Gly) c.3065T>G (p.Val1022Gly) n.2151T>G c.3209T>G (p.Val1070Gly) c.3206T>G (p.Val1069Gly) c.2153T>G (p.Val718Gly) c.2999T>G (p.Val1000Gly) c.2519T>G (p.Val840Gly) | |
| 12 | g.47978056A>G | CA384540742 | COL2A1 | c.2858T>C (p.Val953Ala) c.3065T>C (p.Val1022Ala) n.2151T>C c.3209T>C (p.Val1070Ala) c.3206T>C (p.Val1069Ala) c.2153T>C (p.Val718Ala) c.2999T>C (p.Val1000Ala) c.2519T>C (p.Val840Ala) | |
| 12 | g.47978056A>T | CA384540741 | COL2A1 | c.2858T>A (p.Val953Glu) c.3065T>A (p.Val1022Glu) n.2151T>A c.3209T>A (p.Val1070Glu) c.3206T>A (p.Val1069Glu) c.2153T>A (p.Val718Glu) c.2999T>A (p.Val1000Glu) c.2519T>A (p.Val840Glu) | |
| 12 | g.47978057C>A | CA6534904 | COL2A1 | c.2857G>T (p.Val953Leu) c.3064G>T (p.Val1022Leu) n.2150G>T c.3208G>T (p.Val1070Leu) c.3205G>T (p.Val1069Leu) c.2152G>T (p.Val718Leu) c.2998G>T (p.Val1000Leu) c.2518G>T (p.Val840Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978057C= | CA2034476701 | COL2A1 | c.2857G= (p.Val953=) c.3064G= (p.Val1022=) n.2150G= c.3208G= (p.Val1070=) c.3205G= (p.Val1069=) c.2152G= (p.Val718=) c.2998G= (p.Val1000=) c.2518G= (p.Val840=) | |
| 12 | g.47978057C>G | CA384540744 | COL2A1 | c.2857G>C (p.Val953Leu) c.3064G>C (p.Val1022Leu) n.2150G>C c.3208G>C (p.Val1070Leu) c.3205G>C (p.Val1069Leu) c.2152G>C (p.Val718Leu) c.2998G>C (p.Val1000Leu) c.2518G>C (p.Val840Leu) | |
| 12 | g.47978057C>T | CA6534905 | COL2A1 | c.2857G>A (p.Val953Met) c.3064G>A (p.Val1022Met) n.2150G>A c.3208G>A (p.Val1070Met) c.3205G>A (p.Val1069Met) c.2152G>A (p.Val718Met) c.2998G>A (p.Val1000Met) c.2518G>A (p.Val840Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978058G>A | CA6534906 | COL2A1 | c.2856C>T (p.Pro952=) c.3063C>T (p.Pro1021=) n.2149C>T c.3207C>T (p.Pro1069=) c.3204C>T (p.Pro1068=) c.2151C>T (p.Pro717=) c.2997C>T (p.Pro999=) c.2517C>T (p.Pro839=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978058G>C | CA479455129 | COL2A1 | c.2856C>G (p.Pro952=) c.3063C>G (p.Pro1021=) n.2149C>G c.3207C>G (p.Pro1069=) c.3204C>G (p.Pro1068=) c.2151C>G (p.Pro717=) c.2997C>G (p.Pro999=) c.2517C>G (p.Pro839=) | |
| 12 | g.47978058G= | CA2034476702 | COL2A1 | c.2856C= (p.Pro952=) c.3063C= (p.Pro1021=) n.2149C= c.3207C= (p.Pro1069=) c.3204C= (p.Pro1068=) c.2151C= (p.Pro717=) c.2997C= (p.Pro999=) c.2517C= (p.Pro839=) | |
| 12 | g.47978058G>T | CA479455131 | COL2A1 | c.2856C>A (p.Pro952=) c.3063C>A (p.Pro1021=) n.2149C>A c.3207C>A (p.Pro1069=) c.3204C>A (p.Pro1068=) c.2151C>A (p.Pro717=) c.2997C>A (p.Pro999=) c.2517C>A (p.Pro839=) | |
| 12 | g.47978061del | CA2573148627 | COL2A1 | c.2856del (p.Val953TrpfsTer6) c.3063del (p.Val1022TrpfsTer6) n.2149del c.3207del (p.Val1070TrpfsTer6) c.3204del (p.Val1069TrpfsTer6) c.2151del (p.Val718TrpfsTer6) c.2997del (p.Val1000TrpfsTer6) c.2517del (p.Val840TrpfsTer6) | ClinVar dbSNP |
| 12 | g.47978059G>A | CA384540747 | COL2A1 | c.2855C>T (p.Pro952Leu) c.3062C>T (p.Pro1021Leu) n.2148C>T c.3206C>T (p.Pro1069Leu) c.3203C>T (p.Pro1068Leu) c.2150C>T (p.Pro717Leu) c.2996C>T (p.Pro999Leu) c.2516C>T (p.Pro839Leu) | gnomAD v4 |
| 12 | g.47978059G>C | CA384540749 | COL2A1 | c.2855C>G (p.Pro952Arg) c.3062C>G (p.Pro1021Arg) n.2148C>G c.3206C>G (p.Pro1069Arg) c.3203C>G (p.Pro1068Arg) c.2150C>G (p.Pro717Arg) c.2996C>G (p.Pro999Arg) c.2516C>G (p.Pro839Arg) | |
| 12 | g.47978059G>T | CA384540751 | COL2A1 | c.2855C>A (p.Pro952His) c.3062C>A (p.Pro1021His) n.2148C>A c.3206C>A (p.Pro1069His) c.3203C>A (p.Pro1068His) c.2150C>A (p.Pro717His) c.2996C>A (p.Pro999His) c.2516C>A (p.Pro839His) | |
| 12 | g.47978060G>A | CA384540753 | COL2A1 | c.2854C>T (p.Pro952Ser) c.3061C>T (p.Pro1021Ser) n.2147C>T c.3205C>T (p.Pro1069Ser) c.3202C>T (p.Pro1068Ser) c.2149C>T (p.Pro717Ser) c.2995C>T (p.Pro999Ser) c.2515C>T (p.Pro839Ser) | |
| 12 | g.47978060G>C | CA384540755 | COL2A1 | c.2854C>G (p.Pro952Ala) c.3061C>G (p.Pro1021Ala) n.2147C>G c.3205C>G (p.Pro1069Ala) c.3202C>G (p.Pro1068Ala) c.2149C>G (p.Pro717Ala) c.2995C>G (p.Pro999Ala) c.2515C>G (p.Pro839Ala) | |
| 12 | g.47978060G>T | CA384540757 | COL2A1 | c.2854C>A (p.Pro952Thr) c.3061C>A (p.Pro1021Thr) n.2147C>A c.3205C>A (p.Pro1069Thr) c.3202C>A (p.Pro1068Thr) c.2149C>A (p.Pro717Thr) c.2995C>A (p.Pro999Thr) c.2515C>A (p.Pro839Thr) | |
| 12 | g.47978061G>A | CA6534907 | COL2A1 | c.2853C>T (p.Gly951=) c.3060C>T (p.Gly1020=) n.2146C>T c.3204C>T (p.Gly1068=) c.3201C>T (p.Gly1067=) c.2148C>T (p.Gly716=) c.2994C>T (p.Gly998=) c.2514C>T (p.Gly838=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978061G>C | CA479455152 | COL2A1 | c.2853C>G (p.Gly951=) c.3060C>G (p.Gly1020=) n.2146C>G c.3204C>G (p.Gly1068=) c.3201C>G (p.Gly1067=) c.2148C>G (p.Gly716=) c.2994C>G (p.Gly998=) c.2514C>G (p.Gly838=) | |
| 12 | g.47978061G= | CA2034476703 | COL2A1 | c.2853C= (p.Gly951=) c.3060C= (p.Gly1020=) n.2146C= c.3204C= (p.Gly1068=) c.3201C= (p.Gly1067=) c.2148C= (p.Gly716=) c.2994C= (p.Gly998=) c.2514C= (p.Gly838=) | |
| 12 | g.47978061G>T | CA479455154 | COL2A1 | c.2853C>A (p.Gly951=) c.3060C>A (p.Gly1020=) n.2146C>A c.3204C>A (p.Gly1068=) c.3201C>A (p.Gly1067=) c.2148C>A (p.Gly716=) c.2994C>A (p.Gly998=) c.2514C>A (p.Gly838=) | |
| 12 | g.47978062C>A | CA384540765 | COL2A1 | c.2852G>T (p.Gly951Val) c.3059G>T (p.Gly1020Val) n.2145G>T c.3203G>T (p.Gly1068Val) c.3200G>T (p.Gly1067Val) c.2147G>T (p.Gly716Val) c.2993G>T (p.Gly998Val) c.2513G>T (p.Gly838Val) | |
| 12 | g.47978062C>G | CA384540761 | COL2A1 | c.2852G>C (p.Gly951Ala) c.3059G>C (p.Gly1020Ala) n.2145G>C c.3203G>C (p.Gly1068Ala) c.3200G>C (p.Gly1067Ala) c.2147G>C (p.Gly716Ala) c.2993G>C (p.Gly998Ala) c.2513G>C (p.Gly838Ala) | |
| 12 | g.47978062C>T | CA384540763 | COL2A1 | c.2852G>A (p.Gly951Asp) c.3059G>A (p.Gly1020Asp) n.2145G>A c.3203G>A (p.Gly1068Asp) c.3200G>A (p.Gly1067Asp) c.2147G>A (p.Gly716Asp) c.2993G>A (p.Gly998Asp) c.2513G>A (p.Gly838Asp) | |
| 12 | g.47978063C>A | CA384540767 | COL2A1 | c.2851G>T (p.Gly951Cys) c.3058G>T (p.Gly1020Cys) n.2144G>T c.3202G>T (p.Gly1068Cys) c.3199G>T (p.Gly1067Cys) c.2146G>T (p.Gly716Cys) c.2992G>T (p.Gly998Cys) c.2512G>T (p.Gly838Cys) | |
| 12 | g.47978063C>G | CA384540769 | COL2A1 | c.2851G>C (p.Gly951Arg) c.3058G>C (p.Gly1020Arg) n.2144G>C c.3202G>C (p.Gly1068Arg) c.3199G>C (p.Gly1067Arg) c.2146G>C (p.Gly716Arg) c.2992G>C (p.Gly998Arg) c.2512G>C (p.Gly838Arg) | |
| 12 | g.47978063C>T | CA384540771 | COL2A1 | c.2851G>A (p.Gly951Ser) c.3058G>A (p.Gly1020Ser) n.2144G>A c.3202G>A (p.Gly1068Ser) c.3199G>A (p.Gly1067Ser) c.2146G>A (p.Gly716Ser) c.2992G>A (p.Gly998Ser) c.2512G>A (p.Gly838Ser) | |
| 12 | g.47978063_47978065del | CA2695216641 | COL2A1 | c.2849_2851del (p.Pro950_Gly951delinsArg) c.3056_3058del (p.Pro1019_Gly1020delinsArg) n.2142_2144del c.3200_3202del (p.Pro1067_Gly1068delinsArg) c.3197_3199del (p.Pro1066_Gly1067delinsArg) c.2144_2146del (p.Pro715_Gly716delinsArg) c.2990_2992del (p.Pro997_Gly998delinsArg) c.2510_2512del (p.Pro837_Gly838delinsArg) | |
| 12 | g.47978064A= | CA2034476704 | COL2A1 | c.2850T= (p.Pro950=) c.3057T= (p.Pro1019=) n.2143T= c.3201T= (p.Pro1067=) c.3198T= (p.Pro1066=) c.2145T= (p.Pro715=) c.2991T= (p.Pro997=) c.2511T= (p.Pro837=) | |
| 12 | g.47978064A>C | CA6534908 | COL2A1 | c.2850T>G (p.Pro950=) c.3057T>G (p.Pro1019=) n.2143T>G c.3201T>G (p.Pro1067=) c.3198T>G (p.Pro1066=) c.2145T>G (p.Pro715=) c.2991T>G (p.Pro997=) c.2511T>G (p.Pro837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978064A>G | CA479455173 | COL2A1 | c.2850T>C (p.Pro950=) c.3057T>C (p.Pro1019=) n.2143T>C c.3201T>C (p.Pro1067=) c.3198T>C (p.Pro1066=) c.2145T>C (p.Pro715=) c.2991T>C (p.Pro997=) c.2511T>C (p.Pro837=) | |
| 12 | g.47978064A>T | CA479455176 | COL2A1 | c.2850T>A (p.Pro950=) c.3057T>A (p.Pro1019=) n.2143T>A c.3201T>A (p.Pro1067=) c.3198T>A (p.Pro1066=) c.2145T>A (p.Pro715=) c.2991T>A (p.Pro997=) c.2511T>A (p.Pro837=) | |
| 12 | g.47978065G>A | CA384540774 | COL2A1 | c.2849C>T (p.Pro950Leu) c.3056C>T (p.Pro1019Leu) n.2142C>T c.3200C>T (p.Pro1067Leu) c.3197C>T (p.Pro1066Leu) c.2144C>T (p.Pro715Leu) c.2990C>T (p.Pro997Leu) c.2510C>T (p.Pro837Leu) | |
| 12 | g.47978065G>C | CA384540776 | COL2A1 | c.2849C>G (p.Pro950Arg) c.3056C>G (p.Pro1019Arg) n.2142C>G c.3200C>G (p.Pro1067Arg) c.3197C>G (p.Pro1066Arg) c.2144C>G (p.Pro715Arg) c.2990C>G (p.Pro997Arg) c.2510C>G (p.Pro837Arg) | |
| 12 | g.47978065G>T | CA384540778 | COL2A1 | c.2849C>A (p.Pro950His) c.3056C>A (p.Pro1019His) n.2142C>A c.3200C>A (p.Pro1067His) c.3197C>A (p.Pro1066His) c.2144C>A (p.Pro715His) c.2990C>A (p.Pro997His) c.2510C>A (p.Pro837His) | |
| 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.47978066G>A | CA384540781 | COL2A1 | c.2848C>T (p.Pro950Ser) c.3055C>T (p.Pro1019Ser) n.2141C>T c.3199C>T (p.Pro1067Ser) c.3196C>T (p.Pro1066Ser) c.2143C>T (p.Pro715Ser) c.2989C>T (p.Pro997Ser) c.2509C>T (p.Pro837Ser) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.47978066G>C | CA384540782 | COL2A1 | c.2848C>G (p.Pro950Ala) c.3055C>G (p.Pro1019Ala) n.2141C>G c.3199C>G (p.Pro1067Ala) c.3196C>G (p.Pro1066Ala) c.2143C>G (p.Pro715Ala) c.2989C>G (p.Pro997Ala) c.2509C>G (p.Pro837Ala) | |
| 12 | g.47978066G>T | CA384540784 | COL2A1 | c.2848C>A (p.Pro950Thr) c.3055C>A (p.Pro1019Thr) n.2141C>A c.3199C>A (p.Pro1067Thr) c.3196C>A (p.Pro1066Thr) c.2143C>A (p.Pro715Thr) c.2989C>A (p.Pro997Thr) c.2509C>A (p.Pro837Thr) | |
| 12 | g.47978067A>C | CA479455207 | COL2A1 | c.2847T>G (p.Pro949=) c.3054T>G (p.Pro1018=) n.2140T>G c.3198T>G (p.Pro1066=) c.3195T>G (p.Pro1065=) c.2142T>G (p.Pro714=) c.2988T>G (p.Pro996=) c.2508T>G (p.Pro836=) | |
| 12 | g.47978067A>G | CA479455212 | COL2A1 | c.2847T>C (p.Pro949=) c.3054T>C (p.Pro1018=) n.2140T>C c.3198T>C (p.Pro1066=) c.3195T>C (p.Pro1065=) c.2142T>C (p.Pro714=) c.2988T>C (p.Pro996=) c.2508T>C (p.Pro836=) | |
| 12 | g.47978067A>T | CA479455216 | COL2A1 | c.2847T>A (p.Pro949=) c.3054T>A (p.Pro1018=) n.2140T>A c.3198T>A (p.Pro1066=) c.3195T>A (p.Pro1065=) c.2142T>A (p.Pro714=) c.2988T>A (p.Pro996=) c.2508T>A (p.Pro836=) | |
| 12 | g.47978068G>A | CA384540789 | COL2A1 | c.2846C>T (p.Pro949Leu) c.3053C>T (p.Pro1018Leu) n.2139C>T c.3197C>T (p.Pro1066Leu) c.3194C>T (p.Pro1065Leu) c.2141C>T (p.Pro714Leu) c.2987C>T (p.Pro996Leu) c.2507C>T (p.Pro836Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978068G>C | CA384540791 | COL2A1 | c.2846C>G (p.Pro949Arg) c.3053C>G (p.Pro1018Arg) n.2139C>G c.3197C>G (p.Pro1066Arg) c.3194C>G (p.Pro1065Arg) c.2141C>G (p.Pro714Arg) c.2987C>G (p.Pro996Arg) c.2507C>G (p.Pro836Arg) | |
| 12 | g.47978068G= | CA2034476705 | COL2A1 | c.2846C= (p.Pro949=) c.3053C= (p.Pro1018=) n.2139C= c.3197C= (p.Pro1066=) c.3194C= (p.Pro1065=) c.2141C= (p.Pro714=) c.2987C= (p.Pro996=) c.2507C= (p.Pro836=) | |
| 12 | g.47978068G>T | CA384540787 | COL2A1 | c.2846C>A (p.Pro949His) c.3053C>A (p.Pro1018His) n.2139C>A c.3197C>A (p.Pro1066His) c.3194C>A (p.Pro1065His) c.2141C>A (p.Pro714His) c.2987C>A (p.Pro996His) c.2507C>A (p.Pro836His) | |
| 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 |