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.47978598G>A | CA384541724 | COL2A1 | c.2687C>T (p.Ser896Phe) c.2894C>T (p.Ser965Phe) n.1980C>T c.3038C>T (p.Ser1013Phe) c.3035C>T (p.Ser1012Phe) c.1982C>T (p.Ser661Phe) c.2828C>T (p.Ser943Phe) c.2348C>T (p.Ser783Phe) | |
| 12 | g.47978598G>C | CA384541719 | COL2A1 | c.2687C>G (p.Ser896Cys) c.2894C>G (p.Ser965Cys) n.1980C>G c.3038C>G (p.Ser1013Cys) c.3035C>G (p.Ser1012Cys) c.1982C>G (p.Ser661Cys) c.2828C>G (p.Ser943Cys) c.2348C>G (p.Ser783Cys) | |
| 12 | g.47978598G>T | CA384541721 | COL2A1 | c.2687C>A (p.Ser896Tyr) c.2894C>A (p.Ser965Tyr) n.1980C>A c.3038C>A (p.Ser1013Tyr) c.3035C>A (p.Ser1012Tyr) c.1982C>A (p.Ser661Tyr) c.2828C>A (p.Ser943Tyr) c.2348C>A (p.Ser783Tyr) | |
| 12 | g.47978599A>C | CA384541727 | COL2A1 | c.2686T>G (p.Ser896Ala) c.2893T>G (p.Ser965Ala) n.1979T>G c.3037T>G (p.Ser1013Ala) c.3034T>G (p.Ser1012Ala) c.1981T>G (p.Ser661Ala) c.2827T>G (p.Ser943Ala) c.2347T>G (p.Ser783Ala) | |
| 12 | g.47978599A>G | CA384541730 | COL2A1 | c.2686T>C (p.Ser896Pro) c.2893T>C (p.Ser965Pro) n.1979T>C c.3037T>C (p.Ser1013Pro) c.3034T>C (p.Ser1012Pro) c.1981T>C (p.Ser661Pro) c.2827T>C (p.Ser943Pro) c.2347T>C (p.Ser783Pro) | |
| 12 | g.47978599A>T | CA384541731 | COL2A1 | c.2686T>A (p.Ser896Thr) c.2893T>A (p.Ser965Thr) n.1979T>A c.3037T>A (p.Ser1013Thr) c.3034T>A (p.Ser1012Thr) c.1981T>A (p.Ser661Thr) c.2827T>A (p.Ser943Thr) c.2347T>A (p.Ser783Thr) | |
| 12 | g.47978600G>A | CA6534966 | COL2A1 | c.2685C>T (p.Pro895=) c.2892C>T (p.Pro964=) n.1978C>T c.3036C>T (p.Pro1012=) c.3033C>T (p.Pro1011=) c.1980C>T (p.Pro660=) c.2826C>T (p.Pro942=) c.2346C>T (p.Pro782=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978600G>C | CA479696677 | COL2A1 | c.2685C>G (p.Pro895=) c.2892C>G (p.Pro964=) n.1978C>G c.3036C>G (p.Pro1012=) c.3033C>G (p.Pro1011=) c.1980C>G (p.Pro660=) c.2826C>G (p.Pro942=) c.2346C>G (p.Pro782=) | |
| 12 | g.47978600G= | CA2034476957 | COL2A1 | c.2685C= (p.Pro895=) c.2892C= (p.Pro964=) n.1978C= c.3036C= (p.Pro1012=) c.3033C= (p.Pro1011=) c.1980C= (p.Pro660=) c.2826C= (p.Pro942=) c.2346C= (p.Pro782=) | |
| 12 | g.47978600G>T | CA6534967 | COL2A1 | c.2685C>A (p.Pro895=) c.2892C>A (p.Pro964=) n.1978C>A c.3036C>A (p.Pro1012=) c.3033C>A (p.Pro1011=) c.1980C>A (p.Pro660=) c.2826C>A (p.Pro942=) c.2346C>A (p.Pro782=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978601G>A | CA6534968 | COL2A1 | c.2684C>T (p.Pro895Leu) c.2891C>T (p.Pro964Leu) n.1977C>T c.3035C>T (p.Pro1012Leu) c.3032C>T (p.Pro1011Leu) c.1979C>T (p.Pro660Leu) c.2825C>T (p.Pro942Leu) c.2345C>T (p.Pro782Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.47978601G>C | CA384541742 | COL2A1 | c.2684C>G (p.Pro895Arg) c.2891C>G (p.Pro964Arg) n.1977C>G c.3035C>G (p.Pro1012Arg) c.3032C>G (p.Pro1011Arg) c.1979C>G (p.Pro660Arg) c.2825C>G (p.Pro942Arg) c.2345C>G (p.Pro782Arg) | |
| 12 | g.47978601G= | CA2034476958 | COL2A1 | c.2684C= (p.Pro895=) c.2891C= (p.Pro964=) n.1977C= c.3035C= (p.Pro1012=) c.3032C= (p.Pro1011=) c.1979C= (p.Pro660=) c.2825C= (p.Pro942=) c.2345C= (p.Pro782=) | |
| 12 | g.47978601G>T | CA384541743 | COL2A1 | c.2684C>A (p.Pro895His) c.2891C>A (p.Pro964His) n.1977C>A c.3035C>A (p.Pro1012His) c.3032C>A (p.Pro1011His) c.1979C>A (p.Pro660His) c.2825C>A (p.Pro942His) c.2345C>A (p.Pro782His) | |
| 12 | g.47978602G>A | CA384541747 | COL2A1 | c.2683C>T (p.Pro895Ser) c.2890C>T (p.Pro964Ser) n.1976C>T c.3034C>T (p.Pro1012Ser) c.3031C>T (p.Pro1011Ser) c.1978C>T (p.Pro660Ser) c.2824C>T (p.Pro942Ser) c.2344C>T (p.Pro782Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.47978602G>C | CA384541751 | COL2A1 | c.2683C>G (p.Pro895Ala) c.2890C>G (p.Pro964Ala) n.1976C>G c.3034C>G (p.Pro1012Ala) c.3031C>G (p.Pro1011Ala) c.1978C>G (p.Pro660Ala) c.2824C>G (p.Pro942Ala) c.2344C>G (p.Pro782Ala) | |
| 12 | g.47978602G= | CA2034476959 | COL2A1 | c.2683C= (p.Pro895=) c.2890C= (p.Pro964=) n.1976C= c.3034C= (p.Pro1012=) c.3031C= (p.Pro1011=) c.1978C= (p.Pro660=) c.2824C= (p.Pro942=) c.2344C= (p.Pro782=) | |
| 12 | g.47978602G>T | CA384541754 | COL2A1 | c.2683C>A (p.Pro895Thr) c.2890C>A (p.Pro964Thr) n.1976C>A c.3034C>A (p.Pro1012Thr) c.3031C>A (p.Pro1011Thr) c.1978C>A (p.Pro660Thr) c.2824C>A (p.Pro942Thr) c.2344C>A (p.Pro782Thr) | COSMIC COSMIC |
| 12 | g.47978603A>C | CA479696680 | COL2A1 | c.2682T>G (p.Gly894=) c.2889T>G (p.Gly963=) n.1975T>G c.3033T>G (p.Gly1011=) c.3030T>G (p.Gly1010=) c.1977T>G (p.Gly659=) c.2823T>G (p.Gly941=) c.2343T>G (p.Gly781=) | |
| 12 | g.47978603A>G | CA479696681 | COL2A1 | c.2682T>C (p.Gly894=) c.2889T>C (p.Gly963=) n.1975T>C c.3033T>C (p.Gly1011=) c.3030T>C (p.Gly1010=) c.1977T>C (p.Gly659=) c.2823T>C (p.Gly941=) c.2343T>C (p.Gly781=) | |
| 12 | g.47978603A>T | CA479696682 | COL2A1 | c.2682T>A (p.Gly894=) c.2889T>A (p.Gly963=) n.1975T>A c.3033T>A (p.Gly1011=) c.3030T>A (p.Gly1010=) c.1977T>A (p.Gly659=) c.2823T>A (p.Gly941=) c.2343T>A (p.Gly781=) | |
| 12 | g.47978604C>A | CA384541757 | COL2A1 | c.2681G>T (p.Gly894Val) c.2888G>T (p.Gly963Val) n.1974G>T c.3032G>T (p.Gly1011Val) c.3029G>T (p.Gly1010Val) c.1976G>T (p.Gly659Val) c.2822G>T (p.Gly941Val) c.2342G>T (p.Gly781Val) | |
| 12 | g.47978604C>G | CA384541756 | COL2A1 | c.2681G>C (p.Gly894Ala) c.2888G>C (p.Gly963Ala) n.1974G>C c.3032G>C (p.Gly1011Ala) c.3029G>C (p.Gly1010Ala) c.1976G>C (p.Gly659Ala) c.2822G>C (p.Gly941Ala) c.2342G>C (p.Gly781Ala) | |
| 12 | g.47978604C>T | CA384541755 | COL2A1 | c.2681G>A (p.Gly894Asp) c.2888G>A (p.Gly963Asp) n.1974G>A c.3032G>A (p.Gly1011Asp) c.3029G>A (p.Gly1010Asp) c.1976G>A (p.Gly659Asp) c.2822G>A (p.Gly941Asp) c.2342G>A (p.Gly781Asp) | |
| 12 | g.47978605C>A | CA384541758 | COL2A1 | c.2680G>T (p.Gly894Cys) c.2887G>T (p.Gly963Cys) n.1973G>T c.3031G>T (p.Gly1011Cys) c.3028G>T (p.Gly1010Cys) c.1975G>T (p.Gly659Cys) c.2821G>T (p.Gly941Cys) c.2341G>T (p.Gly781Cys) | |
| 12 | g.47978605C= | CA2034476960 | COL2A1 | c.2680G= (p.Gly894=) c.2887G= (p.Gly963=) n.1973G= c.3031G= (p.Gly1011=) c.3028G= (p.Gly1010=) c.1975G= (p.Gly659=) c.2821G= (p.Gly941=) c.2341G= (p.Gly781=) | |
| 12 | g.47978605C>G | CA384541759 | COL2A1 | c.2680G>C (p.Gly894Arg) c.2887G>C (p.Gly963Arg) n.1973G>C c.3031G>C (p.Gly1011Arg) c.3028G>C (p.Gly1010Arg) c.1975G>C (p.Gly659Arg) c.2821G>C (p.Gly941Arg) c.2341G>C (p.Gly781Arg) | |
| 12 | g.47978605C>T | CA384541761 | COL2A1 | c.2680G>A (p.Gly894Ser) c.2887G>A (p.Gly963Ser) n.1973G>A c.3031G>A (p.Gly1011Ser) c.3028G>A (p.Gly1010Ser) c.1975G>A (p.Gly659Ser) c.2821G>A (p.Gly941Ser) c.2341G>A (p.Gly781Ser) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 12 | g.47978606G>A | CA6534969 | COL2A1 | c.2679C>T (p.Asp893=) c.2886C>T (p.Asp962=) n.1972C>T c.3030C>T (p.Asp1010=) c.3027C>T (p.Asp1009=) c.1974C>T (p.Asp658=) c.2820C>T (p.Asp940=) c.2340C>T (p.Asp780=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978606G>C | CA384541764 | COL2A1 | c.2679C>G (p.Asp893Glu) c.2886C>G (p.Asp962Glu) n.1972C>G c.3030C>G (p.Asp1010Glu) c.3027C>G (p.Asp1009Glu) c.1974C>G (p.Asp658Glu) c.2820C>G (p.Asp940Glu) c.2340C>G (p.Asp780Glu) | |
| 12 | g.47978606G= | CA2034476961 | COL2A1 | c.2679C= (p.Asp893=) c.2886C= (p.Asp962=) n.1972C= c.3030C= (p.Asp1010=) c.3027C= (p.Asp1009=) c.1974C= (p.Asp658=) c.2820C= (p.Asp940=) c.2340C= (p.Asp780=) | |
| 12 | g.47978606G>T | CA384541767 | COL2A1 | c.2679C>A (p.Asp893Glu) c.2886C>A (p.Asp962Glu) n.1972C>A c.3030C>A (p.Asp1010Glu) c.3027C>A (p.Asp1009Glu) c.1974C>A (p.Asp658Glu) c.2820C>A (p.Asp940Glu) c.2340C>A (p.Asp780Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978607T>A | CA384541771 | COL2A1 | c.2678A>T (p.Asp893Val) c.2885A>T (p.Asp962Val) n.1971A>T c.3029A>T (p.Asp1010Val) c.3026A>T (p.Asp1009Val) c.1973A>T (p.Asp658Val) c.2819A>T (p.Asp940Val) c.2339A>T (p.Asp780Val) | |
| 12 | g.47978607T>C | CA384541772 | COL2A1 | c.2678A>G (p.Asp893Gly) c.2885A>G (p.Asp962Gly) n.1971A>G c.3029A>G (p.Asp1010Gly) c.3026A>G (p.Asp1009Gly) c.1973A>G (p.Asp658Gly) c.2819A>G (p.Asp940Gly) c.2339A>G (p.Asp780Gly) | |
| 12 | g.47978607T>G | CA384541774 | COL2A1 | c.2678A>C (p.Asp893Ala) c.2885A>C (p.Asp962Ala) n.1971A>C c.3029A>C (p.Asp1010Ala) c.3026A>C (p.Asp1009Ala) c.1973A>C (p.Asp658Ala) c.2819A>C (p.Asp940Ala) c.2339A>C (p.Asp780Ala) | |
| 12 | g.47978608C>A | CA384541778 | COL2A1 | c.2677G>T (p.Asp893Tyr) c.2884G>T (p.Asp962Tyr) n.1970G>T c.3028G>T (p.Asp1010Tyr) c.3025G>T (p.Asp1009Tyr) c.1972G>T (p.Asp658Tyr) c.2818G>T (p.Asp940Tyr) c.2338G>T (p.Asp780Tyr) | gnomAD v4 |
| 12 | g.47978608C>G | CA384541781 | COL2A1 | c.2677G>C (p.Asp893His) c.2884G>C (p.Asp962His) n.1970G>C c.3028G>C (p.Asp1010His) c.3025G>C (p.Asp1009His) c.1972G>C (p.Asp658His) c.2818G>C (p.Asp940His) c.2338G>C (p.Asp780His) | |
| 12 | g.47978608C>T | CA384541784 | COL2A1 | c.2677G>A (p.Asp893Asn) c.2884G>A (p.Asp962Asn) n.1970G>A c.3028G>A (p.Asp1010Asn) c.3025G>A (p.Asp1009Asn) c.1972G>A (p.Asp658Asn) c.2818G>A (p.Asp940Asn) c.2338G>A (p.Asp780Asn) | |
| 12 | g.47978609A>C | CA384541786 | COL2A1 | c.2676T>G (p.Asp892Glu) c.2883T>G (p.Asp961Glu) n.1969T>G c.3027T>G (p.Asp1009Glu) c.3024T>G (p.Asp1008Glu) c.1971T>G (p.Asp657Glu) c.2817T>G (p.Asp939Glu) c.2337T>G (p.Asp779Glu) | |
| 12 | g.47978609A>G | CA479696684 | COL2A1 | c.2676T>C (p.Asp892=) c.2883T>C (p.Asp961=) n.1969T>C c.3027T>C (p.Asp1009=) c.3024T>C (p.Asp1008=) c.1971T>C (p.Asp657=) c.2817T>C (p.Asp939=) c.2337T>C (p.Asp779=) | |
| 12 | g.47978609A>T | CA384541789 | COL2A1 | c.2676T>A (p.Asp892Glu) c.2883T>A (p.Asp961Glu) n.1969T>A c.3027T>A (p.Asp1009Glu) c.3024T>A (p.Asp1008Glu) c.1971T>A (p.Asp657Glu) c.2817T>A (p.Asp939Glu) c.2337T>A (p.Asp779Glu) | |
| 12 | g.47978610T>A | CA384541794 | COL2A1 | c.2675A>T (p.Asp892Val) c.2882A>T (p.Asp961Val) n.1968A>T c.3026A>T (p.Asp1009Val) c.3023A>T (p.Asp1008Val) c.1970A>T (p.Asp657Val) c.2816A>T (p.Asp939Val) c.2336A>T (p.Asp779Val) | |
| 12 | g.47978610T>C | CA384541796 | COL2A1 | c.2675A>G (p.Asp892Gly) c.2882A>G (p.Asp961Gly) n.1968A>G c.3026A>G (p.Asp1009Gly) c.3023A>G (p.Asp1008Gly) c.1970A>G (p.Asp657Gly) c.2816A>G (p.Asp939Gly) c.2336A>G (p.Asp779Gly) | |
| 12 | g.47978610T>G | CA384541792 | COL2A1 | c.2675A>C (p.Asp892Ala) c.2882A>C (p.Asp961Ala) n.1968A>C c.3026A>C (p.Asp1009Ala) c.3023A>C (p.Asp1008Ala) c.1970A>C (p.Asp657Ala) c.2816A>C (p.Asp939Ala) c.2336A>C (p.Asp779Ala) | |
| 12 | g.47978611C>A | CA384541800 | COL2A1 | c.2674G>T (p.Asp892Tyr) c.2881G>T (p.Asp961Tyr) n.1967G>T c.3025G>T (p.Asp1009Tyr) c.3022G>T (p.Asp1008Tyr) c.1969G>T (p.Asp657Tyr) c.2815G>T (p.Asp939Tyr) c.2335G>T (p.Asp779Tyr) | |
| 12 | g.47978611C>G | CA384541802 | COL2A1 | c.2674G>C (p.Asp892His) c.2881G>C (p.Asp961His) n.1967G>C c.3025G>C (p.Asp1009His) c.3022G>C (p.Asp1008His) c.1969G>C (p.Asp657His) c.2815G>C (p.Asp939His) c.2335G>C (p.Asp779His) | |
| 12 | g.47978611C>T | CA384541812 | COL2A1 | c.2674G>A (p.Asp892Asn) c.2881G>A (p.Asp961Asn) n.1967G>A c.3025G>A (p.Asp1009Asn) c.3022G>A (p.Asp1008Asn) c.1969G>A (p.Asp657Asn) c.2815G>A (p.Asp939Asn) c.2335G>A (p.Asp779Asn) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47978612T>A | CA479696688 | COL2A1 | c.2673A>T (p.Gly891=) c.2880A>T (p.Gly960=) n.1966A>T c.3024A>T (p.Gly1008=) c.3021A>T (p.Gly1007=) c.1968A>T (p.Gly656=) c.2814A>T (p.Gly938=) c.2334A>T (p.Gly778=) | |
| 12 | g.47978612T>C | CA479696687 | COL2A1 | c.2673A>G (p.Gly891=) c.2880A>G (p.Gly960=) n.1966A>G c.3024A>G (p.Gly1008=) c.3021A>G (p.Gly1007=) c.1968A>G (p.Gly656=) c.2814A>G (p.Gly938=) c.2334A>G (p.Gly778=) | |
| 12 | g.47978612T>G | CA479696686 | COL2A1 | c.2673A>C (p.Gly891=) c.2880A>C (p.Gly960=) n.1966A>C c.3024A>C (p.Gly1008=) c.3021A>C (p.Gly1007=) c.1968A>C (p.Gly656=) c.2814A>C (p.Gly938=) c.2334A>C (p.Gly778=) | |
| 12 | g.47978613C>A | CA384541816 | COL2A1 | c.2672G>T (p.Gly891Val) c.2879G>T (p.Gly960Val) n.1965G>T c.3023G>T (p.Gly1008Val) c.3020G>T (p.Gly1007Val) c.1967G>T (p.Gly656Val) c.2813G>T (p.Gly938Val) c.2333G>T (p.Gly778Val) | |
| 12 | g.47978613C>G | CA384541818 | COL2A1 | c.2672G>C (p.Gly891Ala) c.2879G>C (p.Gly960Ala) n.1965G>C c.3023G>C (p.Gly1008Ala) c.3020G>C (p.Gly1007Ala) c.1967G>C (p.Gly656Ala) c.2813G>C (p.Gly938Ala) c.2333G>C (p.Gly778Ala) | |
| 12 | g.47978613C>T | CA384541820 | COL2A1 | c.2672G>A (p.Gly891Glu) c.2879G>A (p.Gly960Glu) n.1965G>A c.3023G>A (p.Gly1008Glu) c.3020G>A (p.Gly1007Glu) c.1967G>A (p.Gly656Glu) c.2813G>A (p.Gly938Glu) c.2333G>A (p.Gly778Glu) | |
| 12 | g.47978614C>A | CA384541822 | COL2A1 | c.2671G>T (p.Gly891Ter) c.2878G>T (p.Gly960Ter) n.1964G>T c.3022G>T (p.Gly1008Ter) c.3019G>T (p.Gly1007Ter) c.1966G>T (p.Gly656Ter) c.2812G>T (p.Gly938Ter) c.2332G>T (p.Gly778Ter) | |
| 12 | g.47978614C>G | CA384541825 | COL2A1 | c.2671G>C (p.Gly891Arg) c.2878G>C (p.Gly960Arg) n.1964G>C c.3022G>C (p.Gly1008Arg) c.3019G>C (p.Gly1007Arg) c.1966G>C (p.Gly656Arg) c.2812G>C (p.Gly938Arg) c.2332G>C (p.Gly778Arg) | |
| 12 | g.47978614C>T | CA384541828 | COL2A1 | c.2671G>A (p.Gly891Arg) c.2878G>A (p.Gly960Arg) n.1964G>A c.3022G>A (p.Gly1008Arg) c.3019G>A (p.Gly1007Arg) c.1966G>A (p.Gly656Arg) c.2812G>A (p.Gly938Arg) c.2332G>A (p.Gly778Arg) | COSMIC COSMIC |
| 12 | g.47978615A>C | CA479696690 | COL2A1 | c.2670T>G (p.Pro890=) c.2877T>G (p.Pro959=) n.1963T>G c.3021T>G (p.Pro1007=) c.3018T>G (p.Pro1006=) c.1965T>G (p.Pro655=) c.2811T>G (p.Pro937=) c.2331T>G (p.Pro777=) | |
| 12 | g.47978615A>G | CA479696692 | COL2A1 | c.2670T>C (p.Pro890=) c.2877T>C (p.Pro959=) n.1963T>C c.3021T>C (p.Pro1007=) c.3018T>C (p.Pro1006=) c.1965T>C (p.Pro655=) c.2811T>C (p.Pro937=) c.2331T>C (p.Pro777=) | |
| 12 | g.47978615A>T | CA479696691 | COL2A1 | c.2670T>A (p.Pro890=) c.2877T>A (p.Pro959=) n.1963T>A c.3021T>A (p.Pro1007=) c.3018T>A (p.Pro1006=) c.1965T>A (p.Pro655=) c.2811T>A (p.Pro937=) c.2331T>A (p.Pro777=) | |
| 12 | g.47978616G>A | CA384541832 | COL2A1 | c.2669C>T (p.Pro890Leu) c.2876C>T (p.Pro959Leu) n.1962C>T c.3020C>T (p.Pro1007Leu) c.3017C>T (p.Pro1006Leu) c.1964C>T (p.Pro655Leu) c.2810C>T (p.Pro937Leu) c.2330C>T (p.Pro777Leu) | |
| 12 | g.47978616G>C | CA236521933 | COL2A1 | c.2669C>G (p.Pro890Arg) c.2876C>G (p.Pro959Arg) n.1962C>G c.3020C>G (p.Pro1007Arg) c.3017C>G (p.Pro1006Arg) c.1964C>G (p.Pro655Arg) c.2810C>G (p.Pro937Arg) c.2330C>G (p.Pro777Arg) | dbSNP |
| 12 | g.47978616G= | CA2034476962 | COL2A1 | c.2669C= (p.Pro890=) c.2876C= (p.Pro959=) n.1962C= c.3020C= (p.Pro1007=) c.3017C= (p.Pro1006=) c.1964C= (p.Pro655=) c.2810C= (p.Pro937=) c.2330C= (p.Pro777=) | |
| 12 | g.47978616G>T | CA384541838 | COL2A1 | c.2669C>A (p.Pro890His) c.2876C>A (p.Pro959His) n.1962C>A c.3020C>A (p.Pro1007His) c.3017C>A (p.Pro1006His) c.1964C>A (p.Pro655His) c.2810C>A (p.Pro937His) c.2330C>A (p.Pro777His) | |
| 12 | g.47978617G>A | CA384541847 | COL2A1 | c.2668C>T (p.Pro890Ser) c.2875C>T (p.Pro959Ser) n.1961C>T c.3019C>T (p.Pro1007Ser) c.3016C>T (p.Pro1006Ser) c.1963C>T (p.Pro655Ser) c.2809C>T (p.Pro937Ser) c.2329C>T (p.Pro777Ser) | |
| 12 | g.47978617G>C | CA384541842 | COL2A1 | c.2668C>G (p.Pro890Ala) c.2875C>G (p.Pro959Ala) n.1961C>G c.3019C>G (p.Pro1007Ala) c.3016C>G (p.Pro1006Ala) c.1963C>G (p.Pro655Ala) c.2809C>G (p.Pro937Ala) c.2329C>G (p.Pro777Ala) | |
| 12 | g.47978617G>T | CA384541844 | COL2A1 | c.2668C>A (p.Pro890Thr) c.2875C>A (p.Pro959Thr) n.1961C>A c.3019C>A (p.Pro1007Thr) c.3016C>A (p.Pro1006Thr) c.1963C>A (p.Pro655Thr) c.2809C>A (p.Pro937Thr) c.2329C>A (p.Pro777Thr) | |
| 12 | g.47978618C>A | CA384541849 | COL2A1 | c.2667G>T (p.Glu889Asp) c.2874G>T (p.Glu958Asp) n.1960G>T c.3018G>T (p.Glu1006Asp) c.3015G>T (p.Glu1005Asp) c.1962G>T (p.Glu654Asp) c.2808G>T (p.Glu936Asp) c.2328G>T (p.Glu776Asp) | |
| 12 | g.47978618C>G | CA384541851 | COL2A1 | c.2667G>C (p.Glu889Asp) c.2874G>C (p.Glu958Asp) n.1960G>C c.3018G>C (p.Glu1006Asp) c.3015G>C (p.Glu1005Asp) c.1962G>C (p.Glu654Asp) c.2808G>C (p.Glu936Asp) c.2328G>C (p.Glu776Asp) | gnomAD v4 |
| 12 | g.47978618C>T | CA479696696 | COL2A1 | c.2667G>A (p.Glu889=) c.2874G>A (p.Glu958=) n.1960G>A c.3018G>A (p.Glu1006=) c.3015G>A (p.Glu1005=) c.1962G>A (p.Glu654=) c.2808G>A (p.Glu936=) c.2328G>A (p.Glu776=) | ClinVar gnomAD v4 |
| 12 | g.47978619T>A | CA384541855 | COL2A1 | c.2666A>T (p.Glu889Val) c.2873A>T (p.Glu958Val) n.1959A>T c.3017A>T (p.Glu1006Val) c.3014A>T (p.Glu1005Val) c.1961A>T (p.Glu654Val) c.2807A>T (p.Glu936Val) c.2327A>T (p.Glu776Val) | |
| 12 | g.47978619T>C | CA384541858 | COL2A1 | c.2666A>G (p.Glu889Gly) c.2873A>G (p.Glu958Gly) n.1959A>G c.3017A>G (p.Glu1006Gly) c.3014A>G (p.Glu1005Gly) c.1961A>G (p.Glu654Gly) c.2807A>G (p.Glu936Gly) c.2327A>G (p.Glu776Gly) | gnomAD v4 |
| 12 | g.47978619T>G | CA384541861 | COL2A1 | c.2666A>C (p.Glu889Ala) c.2873A>C (p.Glu958Ala) n.1959A>C c.3017A>C (p.Glu1006Ala) c.3014A>C (p.Glu1005Ala) c.1961A>C (p.Glu654Ala) c.2807A>C (p.Glu936Ala) c.2327A>C (p.Glu776Ala) | |
| 12 | g.47978620C>A | CA384541865 | COL2A1 | c.2665G>T (p.Glu889Ter) c.2872G>T (p.Glu958Ter) n.1958G>T c.3016G>T (p.Glu1006Ter) c.3013G>T (p.Glu1005Ter) c.1960G>T (p.Glu654Ter) c.2806G>T (p.Glu936Ter) c.2326G>T (p.Glu776Ter) | ClinVar |
| 12 | g.47978620C>G | CA384541866 | COL2A1 | c.2665G>C (p.Glu889Gln) c.2872G>C (p.Glu958Gln) n.1958G>C c.3016G>C (p.Glu1006Gln) c.3013G>C (p.Glu1005Gln) c.1960G>C (p.Glu654Gln) c.2806G>C (p.Glu936Gln) c.2326G>C (p.Glu776Gln) | |
| 12 | g.47978620C>T | CA384541870 | COL2A1 | c.2665G>A (p.Glu889Lys) c.2872G>A (p.Glu958Lys) n.1958G>A c.3016G>A (p.Glu1006Lys) c.3013G>A (p.Glu1005Lys) c.1960G>A (p.Glu654Lys) c.2806G>A (p.Glu936Lys) c.2326G>A (p.Glu776Lys) | |
| 12 | g.47978621T>A | CA479696697 | COL2A1 | c.2664A>T (p.Gly888=) c.2871A>T (p.Gly957=) n.1957A>T c.3015A>T (p.Gly1005=) c.3012A>T (p.Gly1004=) c.1959A>T (p.Gly653=) c.2805A>T (p.Gly935=) c.2325A>T (p.Gly775=) | |
| 12 | g.47978621T>C | CA479696698 | COL2A1 | c.2664A>G (p.Gly888=) c.2871A>G (p.Gly957=) n.1957A>G c.3015A>G (p.Gly1005=) c.3012A>G (p.Gly1004=) c.1959A>G (p.Gly653=) c.2805A>G (p.Gly935=) c.2325A>G (p.Gly775=) | |
| 12 | g.47978621T>G | CA479696699 | COL2A1 | c.2664A>C (p.Gly888=) c.2871A>C (p.Gly957=) n.1957A>C c.3015A>C (p.Gly1005=) c.3012A>C (p.Gly1004=) c.1959A>C (p.Gly653=) c.2805A>C (p.Gly935=) c.2325A>C (p.Gly775=) | |
| 12 | g.47978622C>A | CA384541872 | COL2A1 | c.2663G>T (p.Gly888Val) c.2870G>T (p.Gly957Val) n.1956G>T c.3014G>T (p.Gly1005Val) c.3011G>T (p.Gly1004Val) c.1958G>T (p.Gly653Val) c.2804G>T (p.Gly935Val) c.2324G>T (p.Gly775Val) | |
| 12 | g.47978622C>G | CA384541873 | COL2A1 | c.2663G>C (p.Gly888Ala) c.2870G>C (p.Gly957Ala) n.1956G>C c.3014G>C (p.Gly1005Ala) c.3011G>C (p.Gly1004Ala) c.1958G>C (p.Gly653Ala) c.2804G>C (p.Gly935Ala) c.2324G>C (p.Gly775Ala) | |
| 12 | g.47978622C>T | CA384541876 | COL2A1 | c.2663G>A (p.Gly888Glu) c.2870G>A (p.Gly957Glu) n.1956G>A c.3014G>A (p.Gly1005Glu) c.3011G>A (p.Gly1004Glu) c.1958G>A (p.Gly653Glu) c.2804G>A (p.Gly935Glu) c.2324G>A (p.Gly775Glu) | |
| 12 | g.47978623C>A | CA384541883 | COL2A1 | c.2662G>T (p.Gly888Ter) c.2869G>T (p.Gly957Ter) n.1955G>T c.3013G>T (p.Gly1005Ter) c.3010G>T (p.Gly1004Ter) c.1957G>T (p.Gly653Ter) c.2803G>T (p.Gly935Ter) c.2323G>T (p.Gly775Ter) | |
| 12 | g.47978623C>G | CA384541882 | COL2A1 | c.2662G>C (p.Gly888Arg) c.2869G>C (p.Gly957Arg) n.1955G>C c.3013G>C (p.Gly1005Arg) c.3010G>C (p.Gly1004Arg) c.1957G>C (p.Gly653Arg) c.2803G>C (p.Gly935Arg) c.2323G>C (p.Gly775Arg) | |
| 12 | g.47978623C>T | CA384541880 | COL2A1 | c.2662G>A (p.Gly888Arg) c.2869G>A (p.Gly957Arg) n.1955G>A c.3013G>A (p.Gly1005Arg) c.3010G>A (p.Gly1004Arg) c.1957G>A (p.Gly653Arg) c.2803G>A (p.Gly935Arg) c.2323G>A (p.Gly775Arg) | |
| 12 | g.47978624C>A | CA384541885 | COL2A1 | c.2661G>T (p.Lys887Asn) c.2868G>T (p.Lys956Asn) n.1954G>T c.3012G>T (p.Lys1004Asn) c.3009G>T (p.Lys1003Asn) c.1956G>T (p.Lys652Asn) c.2802G>T (p.Lys934Asn) c.2322G>T (p.Lys774Asn) | |
| 12 | g.47978624C>G | CA384541887 | COL2A1 | c.2661G>C (p.Lys887Asn) c.2868G>C (p.Lys956Asn) n.1954G>C c.3012G>C (p.Lys1004Asn) c.3009G>C (p.Lys1003Asn) c.1956G>C (p.Lys652Asn) c.2802G>C (p.Lys934Asn) c.2322G>C (p.Lys774Asn) | |
| 12 | g.47978624C>T | CA479696703 | COL2A1 | c.2661G>A (p.Lys887=) c.2868G>A (p.Lys956=) n.1954G>A c.3012G>A (p.Lys1004=) c.3009G>A (p.Lys1003=) c.1956G>A (p.Lys652=) c.2802G>A (p.Lys934=) c.2322G>A (p.Lys774=) | |
| 12 | g.47978625T>A | CA384541888 | COL2A1 | c.2660A>T (p.Lys887Met) c.2867A>T (p.Lys956Met) n.1953A>T c.3011A>T (p.Lys1004Met) c.3008A>T (p.Lys1003Met) c.1955A>T (p.Lys652Met) c.2801A>T (p.Lys934Met) c.2321A>T (p.Lys774Met) | dbSNP |
| 12 | g.47978625T>C | CA384541890 | COL2A1 | c.2660A>G (p.Lys887Arg) c.2867A>G (p.Lys956Arg) n.1953A>G c.3011A>G (p.Lys1004Arg) c.3008A>G (p.Lys1003Arg) c.1955A>G (p.Lys652Arg) c.2801A>G (p.Lys934Arg) c.2321A>G (p.Lys774Arg) | |
| 12 | g.47978625T>G | CA384541893 | COL2A1 | c.2660A>C (p.Lys887Thr) c.2867A>C (p.Lys956Thr) n.1953A>C c.3011A>C (p.Lys1004Thr) c.3008A>C (p.Lys1003Thr) c.1955A>C (p.Lys652Thr) c.2801A>C (p.Lys934Thr) c.2321A>C (p.Lys774Thr) | |
| 12 | g.47978625T= | CA2034476963 | COL2A1 | c.2660A= (p.Lys887=) c.2867A= (p.Lys956=) n.1953A= c.3011A= (p.Lys1004=) c.3008A= (p.Lys1003=) c.1955A= (p.Lys652=) c.2801A= (p.Lys934=) c.2321A= (p.Lys774=) | |
| 12 | g.47978626T>A | CA384541895 | COL2A1 | c.2659A>T (p.Lys887Ter) c.2866A>T (p.Lys956Ter) n.1952A>T c.3010A>T (p.Lys1004Ter) c.3007A>T (p.Lys1003Ter) c.1954A>T (p.Lys652Ter) c.2800A>T (p.Lys934Ter) c.2320A>T (p.Lys774Ter) | |
| 12 | g.47978626T>C | CA384541897 | COL2A1 | c.2659A>G (p.Lys887Glu) c.2866A>G (p.Lys956Glu) n.1952A>G c.3010A>G (p.Lys1004Glu) c.3007A>G (p.Lys1003Glu) c.1954A>G (p.Lys652Glu) c.2800A>G (p.Lys934Glu) c.2320A>G (p.Lys774Glu) | |
| 12 | g.47978626T>G | CA384541900 | COL2A1 | c.2659A>C (p.Lys887Gln) c.2866A>C (p.Lys956Gln) n.1952A>C c.3010A>C (p.Lys1004Gln) c.3007A>C (p.Lys1003Gln) c.1954A>C (p.Lys652Gln) c.2800A>C (p.Lys934Gln) c.2320A>C (p.Lys774Gln) | |
| 12 | g.47978627C>A | CA384541904 | COL2A1 | c.2658G>T (p.Glu886Asp) c.2865G>T (p.Glu955Asp) n.1951G>T c.3009G>T (p.Glu1003Asp) c.3006G>T (p.Glu1002Asp) c.1953G>T (p.Glu651Asp) c.2799G>T (p.Glu933Asp) c.2319G>T (p.Glu773Asp) | |
| 12 | g.47978627C>G | CA384541906 | COL2A1 | c.2658G>C (p.Glu886Asp) c.2865G>C (p.Glu955Asp) n.1951G>C c.3009G>C (p.Glu1003Asp) c.3006G>C (p.Glu1002Asp) c.1953G>C (p.Glu651Asp) c.2799G>C (p.Glu933Asp) c.2319G>C (p.Glu773Asp) | |
| 12 | g.47978627C>T | CA479696704 | COL2A1 | c.2658G>A (p.Glu886=) c.2865G>A (p.Glu955=) n.1951G>A c.3009G>A (p.Glu1003=) c.3006G>A (p.Glu1002=) c.1953G>A (p.Glu651=) c.2799G>A (p.Glu933=) c.2319G>A (p.Glu773=) | |
| 12 | g.47978628T>A | CA384541913 | COL2A1 | c.2657A>T (p.Glu886Val) c.2864A>T (p.Glu955Val) n.1950A>T c.3008A>T (p.Glu1003Val) c.3005A>T (p.Glu1002Val) c.1952A>T (p.Glu651Val) c.2798A>T (p.Glu933Val) c.2318A>T (p.Glu773Val) | |
| 12 | g.47978628T>C | CA384541914 | COL2A1 | c.2657A>G (p.Glu886Gly) c.2864A>G (p.Glu955Gly) n.1950A>G c.3008A>G (p.Glu1003Gly) c.3005A>G (p.Glu1002Gly) c.1952A>G (p.Glu651Gly) c.2798A>G (p.Glu933Gly) c.2318A>G (p.Glu773Gly) | dbSNP |
| 12 | g.47978628T>G | CA384541918 | COL2A1 | c.2657A>C (p.Glu886Ala) c.2864A>C (p.Glu955Ala) n.1950A>C c.3008A>C (p.Glu1003Ala) c.3005A>C (p.Glu1002Ala) c.1952A>C (p.Glu651Ala) c.2798A>C (p.Glu933Ala) c.2318A>C (p.Glu773Ala) | |
| 12 | g.47978628T= | CA2034476964 | COL2A1 | c.2657A= (p.Glu886=) c.2864A= (p.Glu955=) n.1950A= c.3008A= (p.Glu1003=) c.3005A= (p.Glu1002=) c.1952A= (p.Glu651=) c.2798A= (p.Glu933=) c.2318A= (p.Glu773=) | |
| 12 | g.47978629C>A | CA384541920 | COL2A1 | c.2656G>T (p.Glu886Ter) c.2863G>T (p.Glu955Ter) n.1949G>T c.3007G>T (p.Glu1003Ter) c.3004G>T (p.Glu1002Ter) c.1951G>T (p.Glu651Ter) c.2797G>T (p.Glu933Ter) c.2317G>T (p.Glu773Ter) | ClinVar |
| 12 | g.47978629C= | CA2034476965 | COL2A1 | c.2656G= (p.Glu886=) c.2863G= (p.Glu955=) n.1949G= c.3007G= (p.Glu1003=) c.3004G= (p.Glu1002=) c.1951G= (p.Glu651=) c.2797G= (p.Glu933=) c.2317G= (p.Glu773=) | |
| 12 | g.47978629C>G | CA384541922 | COL2A1 | c.2656G>C (p.Glu886Gln) c.2863G>C (p.Glu955Gln) n.1949G>C c.3007G>C (p.Glu1003Gln) c.3004G>C (p.Glu1002Gln) c.1951G>C (p.Glu651Gln) c.2797G>C (p.Glu933Gln) c.2317G>C (p.Glu773Gln) | |
| 12 | g.47978629C>T | CA384541925 | COL2A1 | c.2656G>A (p.Glu886Lys) c.2863G>A (p.Glu955Lys) n.1949G>A c.3007G>A (p.Glu1003Lys) c.3004G>A (p.Glu1002Lys) c.1951G>A (p.Glu651Lys) c.2797G>A (p.Glu933Lys) c.2317G>A (p.Glu773Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978630G>A | CA479696709 | COL2A1 | c.2655C>T (p.Gly885=) c.2862C>T (p.Gly954=) n.1948C>T c.3006C>T (p.Gly1002=) c.3003C>T (p.Gly1001=) c.1950C>T (p.Gly650=) c.2796C>T (p.Gly932=) c.2316C>T (p.Gly772=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978630G>C | CA479696708 | COL2A1 | c.2655C>G (p.Gly885=) c.2862C>G (p.Gly954=) n.1948C>G c.3006C>G (p.Gly1002=) c.3003C>G (p.Gly1001=) c.1950C>G (p.Gly650=) c.2796C>G (p.Gly932=) c.2316C>G (p.Gly772=) | |
| 12 | g.47978630G= | CA2034476966 | COL2A1 | c.2655C= (p.Gly885=) c.2862C= (p.Gly954=) n.1948C= c.3006C= (p.Gly1002=) c.3003C= (p.Gly1001=) c.1950C= (p.Gly650=) c.2796C= (p.Gly932=) c.2316C= (p.Gly772=) | |
| 12 | g.47978630G>T | CA236521936 | COL2A1 | c.2655C>A (p.Gly885=) c.2862C>A (p.Gly954=) n.1948C>A c.3006C>A (p.Gly1002=) c.3003C>A (p.Gly1001=) c.1950C>A (p.Gly650=) c.2796C>A (p.Gly932=) c.2316C>A (p.Gly772=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978631C>A | CA384541931 | COL2A1 | c.2654G>T (p.Gly885Val) c.2861G>T (p.Gly954Val) n.1947G>T c.3005G>T (p.Gly1002Val) c.3002G>T (p.Gly1001Val) c.1949G>T (p.Gly650Val) c.2795G>T (p.Gly932Val) c.2315G>T (p.Gly772Val) | |
| 12 | g.47978631C>G | CA384541935 | COL2A1 | c.2654G>C (p.Gly885Ala) c.2861G>C (p.Gly954Ala) n.1947G>C c.3005G>C (p.Gly1002Ala) c.3002G>C (p.Gly1001Ala) c.1949G>C (p.Gly650Ala) c.2795G>C (p.Gly932Ala) c.2315G>C (p.Gly772Ala) | |
| 12 | g.47978631C>T | CA384541937 | COL2A1 | c.2654G>A (p.Gly885Asp) c.2861G>A (p.Gly954Asp) n.1947G>A c.3005G>A (p.Gly1002Asp) c.3002G>A (p.Gly1001Asp) c.1949G>A (p.Gly650Asp) c.2795G>A (p.Gly932Asp) c.2315G>A (p.Gly772Asp) | |
| 12 | g.47978632C>A | CA384541942 | COL2A1 | c.2653G>T (p.Gly885Cys) c.2860G>T (p.Gly954Cys) n.1946G>T c.3004G>T (p.Gly1002Cys) c.3001G>T (p.Gly1001Cys) c.1948G>T (p.Gly650Cys) c.2794G>T (p.Gly932Cys) c.2314G>T (p.Gly772Cys) | |
| 12 | g.47978632C= | CA2034476967 | COL2A1 | c.2653G= (p.Gly885=) c.2860G= (p.Gly954=) n.1946G= c.3004G= (p.Gly1002=) c.3001G= (p.Gly1001=) c.1948G= (p.Gly650=) c.2794G= (p.Gly932=) c.2314G= (p.Gly772=) | |
| 12 | g.47978632C>G | CA384541945 | COL2A1 | c.2653G>C (p.Gly885Arg) c.2860G>C (p.Gly954Arg) n.1946G>C c.3004G>C (p.Gly1002Arg) c.3001G>C (p.Gly1001Arg) c.1948G>C (p.Gly650Arg) c.2794G>C (p.Gly932Arg) c.2314G>C (p.Gly772Arg) | |
| 12 | g.47978632C>T | CA384541947 | COL2A1 | c.2653G>A (p.Gly885Ser) c.2860G>A (p.Gly954Ser) n.1946G>A c.3004G>A (p.Gly1002Ser) c.3001G>A (p.Gly1001Ser) c.1948G>A (p.Gly650Ser) c.2794G>A (p.Gly932Ser) c.2314G>A (p.Gly772Ser) | ClinVar dbSNP |
| 12 | g.47978633A= | CA2034476968 | COL2A1 | c.2652T= (p.Pro884=) c.2859T= (p.Pro953=) n.1945T= c.3003T= (p.Pro1001=) c.3000T= (p.Pro1000=) c.1947T= (p.Pro649=) c.2793T= (p.Pro931=) c.2313T= (p.Pro771=) | |
| 12 | g.47978633A>C | CA479696711 | COL2A1 | c.2652T>G (p.Pro884=) c.2859T>G (p.Pro953=) n.1945T>G c.3003T>G (p.Pro1001=) c.3000T>G (p.Pro1000=) c.1947T>G (p.Pro649=) c.2793T>G (p.Pro931=) c.2313T>G (p.Pro771=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978633A>G | CA479696712 | COL2A1 | c.2652T>C (p.Pro884=) c.2859T>C (p.Pro953=) n.1945T>C c.3003T>C (p.Pro1001=) c.3000T>C (p.Pro1000=) c.1947T>C (p.Pro649=) c.2793T>C (p.Pro931=) c.2313T>C (p.Pro771=) | gnomAD v4 |
| 12 | g.47978633A>T | CA479696714 | COL2A1 | c.2652T>A (p.Pro884=) c.2859T>A (p.Pro953=) n.1945T>A c.3003T>A (p.Pro1001=) c.3000T>A (p.Pro1000=) c.1947T>A (p.Pro649=) c.2793T>A (p.Pro931=) c.2313T>A (p.Pro771=) | |
| 12 | g.47978634G>A | CA384541949 | COL2A1 | c.2651C>T (p.Pro884Leu) c.2858C>T (p.Pro953Leu) n.1944C>T c.3002C>T (p.Pro1001Leu) c.2999C>T (p.Pro1000Leu) c.1946C>T (p.Pro649Leu) c.2792C>T (p.Pro931Leu) c.2312C>T (p.Pro771Leu) | ClinVar gnomAD v4 |
| 12 | g.47978634G>C | CA384541950 | COL2A1 | c.2651C>G (p.Pro884Arg) c.2858C>G (p.Pro953Arg) n.1944C>G c.3002C>G (p.Pro1001Arg) c.2999C>G (p.Pro1000Arg) c.1946C>G (p.Pro649Arg) c.2792C>G (p.Pro931Arg) c.2312C>G (p.Pro771Arg) | |
| 12 | g.47978634G= | CA2034476969 | COL2A1 | c.2651C= (p.Pro884=) c.2858C= (p.Pro953=) n.1944C= c.3002C= (p.Pro1001=) c.2999C= (p.Pro1000=) c.1946C= (p.Pro649=) c.2792C= (p.Pro931=) c.2312C= (p.Pro771=) | |
| 12 | g.47978634G>T | CA384541953 | COL2A1 | c.2651C>A (p.Pro884His) c.2858C>A (p.Pro953His) n.1944C>A c.3002C>A (p.Pro1001His) c.2999C>A (p.Pro1000His) c.1946C>A (p.Pro649His) c.2792C>A (p.Pro931His) c.2312C>A (p.Pro771His) | dbSNP gnomAD v4 |
| 12 | g.47978638del | CA2573148639 | COL2A1 | c.2651del (p.Pro884LeufsTer?) c.2858del (p.Pro953LeufsTer?) n.1944del c.3002del (p.Pro1001LeufsTer?) c.2999del (p.Pro1000LeufsTer?) c.1946del (p.Pro649LeufsTer?) c.2792del (p.Pro931LeufsTer?) c.2312del (p.Pro771LeufsTer?) | ClinVar dbSNP |
| 12 | g.47978635G>A | CA384541957 | COL2A1 | c.2650C>T (p.Pro884Ser) c.2857C>T (p.Pro953Ser) n.1943C>T c.3001C>T (p.Pro1001Ser) c.2998C>T (p.Pro1000Ser) c.1945C>T (p.Pro649Ser) c.2791C>T (p.Pro931Ser) c.2311C>T (p.Pro771Ser) | |
| 12 | g.47978635G>C | CA384541959 | COL2A1 | c.2650C>G (p.Pro884Ala) c.2857C>G (p.Pro953Ala) n.1943C>G c.3001C>G (p.Pro1001Ala) c.2998C>G (p.Pro1000Ala) c.1945C>G (p.Pro649Ala) c.2791C>G (p.Pro931Ala) c.2311C>G (p.Pro771Ala) | |
| 12 | g.47978635G>T | CA384541963 | COL2A1 | c.2650C>A (p.Pro884Thr) c.2857C>A (p.Pro953Thr) n.1943C>A c.3001C>A (p.Pro1001Thr) c.2998C>A (p.Pro1000Thr) c.1945C>A (p.Pro649Thr) c.2791C>A (p.Pro931Thr) c.2311C>A (p.Pro771Thr) | |
| 12 | g.47978636G>A | CA479696717 | COL2A1 | c.2649C>T (p.Pro883=) c.2856C>T (p.Pro952=) n.1942C>T c.3000C>T (p.Pro1000=) c.2997C>T (p.Pro999=) c.1944C>T (p.Pro648=) c.2790C>T (p.Pro930=) c.2310C>T (p.Pro770=) | |
| 12 | g.47978636G>C | CA479696718 | COL2A1 | c.2649C>G (p.Pro883=) c.2856C>G (p.Pro952=) n.1942C>G c.3000C>G (p.Pro1000=) c.2997C>G (p.Pro999=) c.1944C>G (p.Pro648=) c.2790C>G (p.Pro930=) c.2310C>G (p.Pro770=) | |
| 12 | g.47978636G>T | CA479696719 | COL2A1 | c.2649C>A (p.Pro883=) c.2856C>A (p.Pro952=) n.1942C>A c.3000C>A (p.Pro1000=) c.2997C>A (p.Pro999=) c.1944C>A (p.Pro648=) c.2790C>A (p.Pro930=) c.2310C>A (p.Pro770=) | |
| 12 | g.47978637G>A | CA384541970 | COL2A1 | c.2648C>T (p.Pro883Leu) c.2855C>T (p.Pro952Leu) n.1941C>T c.2999C>T (p.Pro1000Leu) c.2996C>T (p.Pro999Leu) c.1943C>T (p.Pro648Leu) c.2789C>T (p.Pro930Leu) c.2309C>T (p.Pro770Leu) | dbSNP |
| 12 | g.47978637G>C | CA384541968 | COL2A1 | c.2648C>G (p.Pro883Arg) c.2855C>G (p.Pro952Arg) n.1941C>G c.2999C>G (p.Pro1000Arg) c.2996C>G (p.Pro999Arg) c.1943C>G (p.Pro648Arg) c.2789C>G (p.Pro930Arg) c.2309C>G (p.Pro770Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978637G= | CA2034476970 | COL2A1 | c.2648C= (p.Pro883=) c.2855C= (p.Pro952=) n.1941C= c.2999C= (p.Pro1000=) c.2996C= (p.Pro999=) c.1943C= (p.Pro648=) c.2789C= (p.Pro930=) c.2309C= (p.Pro770=) | |
| 12 | g.47978637G>T | CA384541965 | COL2A1 | c.2648C>A (p.Pro883His) c.2855C>A (p.Pro952His) n.1941C>A c.2999C>A (p.Pro1000His) c.2996C>A (p.Pro999His) c.1943C>A (p.Pro648His) c.2789C>A (p.Pro930His) c.2309C>A (p.Pro770His) | gnomAD v4 |
| 12 | g.47978638G>A | CA384541973 | COL2A1 | c.2647C>T (p.Pro883Ser) c.2854C>T (p.Pro952Ser) n.1940C>T c.2998C>T (p.Pro1000Ser) c.2995C>T (p.Pro999Ser) c.1942C>T (p.Pro648Ser) c.2788C>T (p.Pro930Ser) c.2308C>T (p.Pro770Ser) | gnomAD v4 |
| 12 | g.47978638G>C | CA384541975 | COL2A1 | c.2647C>G (p.Pro883Ala) c.2854C>G (p.Pro952Ala) n.1940C>G c.2998C>G (p.Pro1000Ala) c.2995C>G (p.Pro999Ala) c.1942C>G (p.Pro648Ala) c.2788C>G (p.Pro930Ala) c.2308C>G (p.Pro770Ala) | |
| 12 | g.47978638G= | CA2034476971 | COL2A1 | c.2647C= (p.Pro883=) c.2854C= (p.Pro952=) n.1940C= c.2998C= (p.Pro1000=) c.2995C= (p.Pro999=) c.1942C= (p.Pro648=) c.2788C= (p.Pro930=) c.2308C= (p.Pro770=) | |
| 12 | g.47978638G>T | CA6534970 | COL2A1 | c.2647C>A (p.Pro883Thr) c.2854C>A (p.Pro952Thr) n.1940C>A c.2998C>A (p.Pro1000Thr) c.2995C>A (p.Pro999Thr) c.1942C>A (p.Pro648Thr) c.2788C>A (p.Pro930Thr) c.2308C>A (p.Pro770Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978639T>A | CA479696721 | COL2A1 | c.2646A>T (p.Gly882=) c.2853A>T (p.Gly951=) n.1939A>T c.2997A>T (p.Gly999=) c.2994A>T (p.Gly998=) c.1941A>T (p.Gly647=) c.2787A>T (p.Gly929=) c.2307A>T (p.Gly769=) | |
| 12 | g.47978639T>C | CA479696722 | COL2A1 | c.2646A>G (p.Gly882=) c.2853A>G (p.Gly951=) n.1939A>G c.2997A>G (p.Gly999=) c.2994A>G (p.Gly998=) c.1941A>G (p.Gly647=) c.2787A>G (p.Gly929=) c.2307A>G (p.Gly769=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978639T>G | CA479696723 | COL2A1 | c.2646A>C (p.Gly882=) c.2853A>C (p.Gly951=) n.1939A>C c.2997A>C (p.Gly999=) c.2994A>C (p.Gly998=) c.1941A>C (p.Gly647=) c.2787A>C (p.Gly929=) c.2307A>C (p.Gly769=) | |
| 12 | g.47978639T= | CA2034476972 | COL2A1 | c.2646A= (p.Gly882=) c.2853A= (p.Gly951=) n.1939A= c.2997A= (p.Gly999=) c.2994A= (p.Gly998=) c.1941A= (p.Gly647=) c.2787A= (p.Gly929=) c.2307A= (p.Gly769=) | |
| 12 | g.47978640C>A | CA384541980 | COL2A1 | c.2645G>T (p.Gly882Val) c.2852G>T (p.Gly951Val) n.1938G>T c.2996G>T (p.Gly999Val) c.2993G>T (p.Gly998Val) c.1940G>T (p.Gly647Val) c.2786G>T (p.Gly929Val) c.2306G>T (p.Gly769Val) | |
| 12 | g.47978640C>G | CA384541983 | COL2A1 | c.2645G>C (p.Gly882Ala) c.2852G>C (p.Gly951Ala) n.1938G>C c.2996G>C (p.Gly999Ala) c.2993G>C (p.Gly998Ala) c.1940G>C (p.Gly647Ala) c.2786G>C (p.Gly929Ala) c.2306G>C (p.Gly769Ala) | |
| 12 | g.47978640C>T | CA384541985 | COL2A1 | c.2645G>A (p.Gly882Glu) c.2852G>A (p.Gly951Glu) n.1938G>A c.2996G>A (p.Gly999Glu) c.2993G>A (p.Gly998Glu) c.1940G>A (p.Gly647Glu) c.2786G>A (p.Gly929Glu) c.2306G>A (p.Gly769Glu) | ClinVar |
| 12 | g.47978641C>A | CA384541990 | COL2A1 | c.2644G>T (p.Gly882Ter) c.2851G>T (p.Gly951Ter) n.1937G>T c.2995G>T (p.Gly999Ter) c.2992G>T (p.Gly998Ter) c.1939G>T (p.Gly647Ter) c.2785G>T (p.Gly929Ter) c.2305G>T (p.Gly769Ter) | |
| 12 | g.47978641C>G | CA384541992 | COL2A1 | c.2644G>C (p.Gly882Arg) c.2851G>C (p.Gly951Arg) n.1937G>C c.2995G>C (p.Gly999Arg) c.2992G>C (p.Gly998Arg) c.1939G>C (p.Gly647Arg) c.2785G>C (p.Gly929Arg) c.2305G>C (p.Gly769Arg) | |
| 12 | g.47978641C>T | CA384541994 | COL2A1 | c.2644G>A (p.Gly882Arg) c.2851G>A (p.Gly951Arg) n.1937G>A c.2995G>A (p.Gly999Arg) c.2992G>A (p.Gly998Arg) c.1939G>A (p.Gly647Arg) c.2785G>A (p.Gly929Arg) c.2305G>A (p.Gly769Arg) | COSMIC COSMIC |
| 12 | g.47978642A>C | CA479696724 | COL2A1 | c.2643T>G (p.Ala881=) c.2850T>G (p.Ala950=) n.1936T>G c.2994T>G (p.Ala998=) c.2991T>G (p.Ala997=) c.1938T>G (p.Ala646=) c.2784T>G (p.Ala928=) c.2304T>G (p.Ala768=) | |
| 12 | g.47978642A>G | CA479696725 | COL2A1 | c.2643T>C (p.Ala881=) c.2850T>C (p.Ala950=) n.1936T>C c.2994T>C (p.Ala998=) c.2991T>C (p.Ala997=) c.1938T>C (p.Ala646=) c.2784T>C (p.Ala928=) c.2304T>C (p.Ala768=) | |
| 12 | g.47978642A>T | CA479696726 | COL2A1 | c.2643T>A (p.Ala881=) c.2850T>A (p.Ala950=) n.1936T>A c.2994T>A (p.Ala998=) c.2991T>A (p.Ala997=) c.1938T>A (p.Ala646=) c.2784T>A (p.Ala928=) c.2304T>A (p.Ala768=) | |
| 12 | g.47978642dup | CA2580085529 | COL2A1 | c.2643dup (p.Gly882TrpfsTer12) c.2850dup (p.Gly951TrpfsTer12) n.1936dup c.2994dup (p.Gly999TrpfsTer12) c.2991dup (p.Gly998TrpfsTer12) c.1938dup (p.Gly647TrpfsTer12) c.2784dup (p.Gly929TrpfsTer12) c.2304dup (p.Gly769TrpfsTer12) | ClinVar |
| 12 | g.47978643G>A | CA384541998 | COL2A1 | c.2642C>T (p.Ala881Val) c.2849C>T (p.Ala950Val) n.1935C>T c.2993C>T (p.Ala998Val) c.2990C>T (p.Ala997Val) c.1937C>T (p.Ala646Val) c.2783C>T (p.Ala928Val) c.2303C>T (p.Ala768Val) | |
| 12 | g.47978643G>C | CA384542001 | COL2A1 | c.2642C>G (p.Ala881Gly) c.2849C>G (p.Ala950Gly) n.1935C>G c.2993C>G (p.Ala998Gly) c.2990C>G (p.Ala997Gly) c.1937C>G (p.Ala646Gly) c.2783C>G (p.Ala928Gly) c.2303C>G (p.Ala768Gly) | |
| 12 | g.47978643G>T | CA384542002 | COL2A1 | c.2642C>A (p.Ala881Asp) c.2849C>A (p.Ala950Asp) n.1935C>A c.2993C>A (p.Ala998Asp) c.2990C>A (p.Ala997Asp) c.1937C>A (p.Ala646Asp) c.2783C>A (p.Ala928Asp) c.2303C>A (p.Ala768Asp) | |
| 12 | g.47978644C>A | CA6534971 | COL2A1 | c.2641G>T (p.Ala881Ser) c.2848G>T (p.Ala950Ser) n.1934G>T c.2992G>T (p.Ala998Ser) c.2989G>T (p.Ala997Ser) c.1936G>T (p.Ala646Ser) c.2782G>T (p.Ala928Ser) c.2302G>T (p.Ala768Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978644C= | CA2034476973 | COL2A1 | c.2641G= (p.Ala881=) c.2848G= (p.Ala950=) n.1934G= c.2992G= (p.Ala998=) c.2989G= (p.Ala997=) c.1936G= (p.Ala646=) c.2782G= (p.Ala928=) c.2302G= (p.Ala768=) | |
| 12 | g.47978644C>G | CA384542011 | COL2A1 | c.2641G>C (p.Ala881Pro) c.2848G>C (p.Ala950Pro) n.1934G>C c.2992G>C (p.Ala998Pro) c.2989G>C (p.Ala997Pro) c.1936G>C (p.Ala646Pro) c.2782G>C (p.Ala928Pro) c.2302G>C (p.Ala768Pro) | |
| 12 | g.47978644C>T | CA384542006 | COL2A1 | c.2641G>A (p.Ala881Thr) c.2848G>A (p.Ala950Thr) n.1934G>A c.2992G>A (p.Ala998Thr) c.2989G>A (p.Ala997Thr) c.1936G>A (p.Ala646Thr) c.2782G>A (p.Ala928Thr) c.2302G>A (p.Ala768Thr) | |
| 12 | g.47978645A>C | CA479696730 | COL2A1 | c.2640T>G (p.Pro880=) c.2847T>G (p.Pro949=) n.1933T>G c.2991T>G (p.Pro997=) c.2988T>G (p.Pro996=) c.1935T>G (p.Pro645=) c.2781T>G (p.Pro927=) c.2301T>G (p.Pro767=) | |
| 12 | g.47978645A>G | CA479696731 | COL2A1 | c.2640T>C (p.Pro880=) c.2847T>C (p.Pro949=) n.1933T>C c.2991T>C (p.Pro997=) c.2988T>C (p.Pro996=) c.1935T>C (p.Pro645=) c.2781T>C (p.Pro927=) c.2301T>C (p.Pro767=) | |
| 12 | g.47978645A>T | CA479696732 | COL2A1 | c.2640T>A (p.Pro880=) c.2847T>A (p.Pro949=) n.1933T>A c.2991T>A (p.Pro997=) c.2988T>A (p.Pro996=) c.1935T>A (p.Pro645=) c.2781T>A (p.Pro927=) c.2301T>A (p.Pro767=) | |
| 12 | g.47978646G>A | CA384542015 | COL2A1 | c.2639C>T (p.Pro880Leu) c.2846C>T (p.Pro949Leu) n.1932C>T c.2990C>T (p.Pro997Leu) c.2987C>T (p.Pro996Leu) c.1934C>T (p.Pro645Leu) c.2780C>T (p.Pro927Leu) c.2300C>T (p.Pro767Leu) | COSMIC COSMIC |
| 12 | g.47978646G>C | CA384542016 | COL2A1 | c.2639C>G (p.Pro880Arg) c.2846C>G (p.Pro949Arg) n.1932C>G c.2990C>G (p.Pro997Arg) c.2987C>G (p.Pro996Arg) c.1934C>G (p.Pro645Arg) c.2780C>G (p.Pro927Arg) c.2300C>G (p.Pro767Arg) | |
| 12 | g.47978646G>T | CA384542018 | COL2A1 | c.2639C>A (p.Pro880His) c.2846C>A (p.Pro949His) n.1932C>A c.2990C>A (p.Pro997His) c.2987C>A (p.Pro996His) c.1934C>A (p.Pro645His) c.2780C>A (p.Pro927His) c.2300C>A (p.Pro767His) | |
| 12 | g.47978647G>A | CA6534972 | COL2A1 | c.2638C>T (p.Pro880Ser) c.2845C>T (p.Pro949Ser) n.1931C>T c.2989C>T (p.Pro997Ser) c.2986C>T (p.Pro996Ser) c.1933C>T (p.Pro645Ser) c.2779C>T (p.Pro927Ser) c.2299C>T (p.Pro767Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978647G>C | CA384542022 | COL2A1 | c.2638C>G (p.Pro880Ala) c.2845C>G (p.Pro949Ala) n.1931C>G c.2989C>G (p.Pro997Ala) c.2986C>G (p.Pro996Ala) c.1933C>G (p.Pro645Ala) c.2779C>G (p.Pro927Ala) c.2299C>G (p.Pro767Ala) | |
| 12 | g.47978647G= | CA2034476974 | COL2A1 | c.2638C= (p.Pro880=) c.2845C= (p.Pro949=) n.1931C= c.2989C= (p.Pro997=) c.2986C= (p.Pro996=) c.1933C= (p.Pro645=) c.2779C= (p.Pro927=) c.2299C= (p.Pro767=) | |
| 12 | g.47978647G>T | CA384542028 | COL2A1 | c.2638C>A (p.Pro880Thr) c.2845C>A (p.Pro949Thr) n.1931C>A c.2989C>A (p.Pro997Thr) c.2986C>A (p.Pro996Thr) c.1933C>A (p.Pro645Thr) c.2779C>A (p.Pro927Thr) c.2299C>A (p.Pro767Thr) | |
| 12 | g.47978648A>C | CA479696735 | COL2A1 | c.2637T>G (p.Gly879=) c.2844T>G (p.Gly948=) n.1930T>G c.2988T>G (p.Gly996=) c.2985T>G (p.Gly995=) c.1932T>G (p.Gly644=) c.2778T>G (p.Gly926=) c.2298T>G (p.Gly766=) | |
| 12 | g.47978648A>G | CA479696734 | COL2A1 | c.2637T>C (p.Gly879=) c.2844T>C (p.Gly948=) n.1930T>C c.2988T>C (p.Gly996=) c.2985T>C (p.Gly995=) c.1932T>C (p.Gly644=) c.2778T>C (p.Gly926=) c.2298T>C (p.Gly766=) | gnomAD v4 |
| 12 | g.47978648A>T | CA479696733 | COL2A1 | c.2637T>A (p.Gly879=) c.2844T>A (p.Gly948=) n.1930T>A c.2988T>A (p.Gly996=) c.2985T>A (p.Gly995=) c.1932T>A (p.Gly644=) c.2778T>A (p.Gly926=) c.2298T>A (p.Gly766=) | |
| 12 | g.47978649C>A | CA384542032 | COL2A1 | c.2636G>T (p.Gly879Val) c.2843G>T (p.Gly948Val) n.1929G>T c.2987G>T (p.Gly996Val) c.2984G>T (p.Gly995Val) c.1931G>T (p.Gly644Val) c.2777G>T (p.Gly926Val) c.2297G>T (p.Gly766Val) | |
| 12 | g.47978649C>G | CA384542034 | COL2A1 | c.2636G>C (p.Gly879Ala) c.2843G>C (p.Gly948Ala) n.1929G>C c.2987G>C (p.Gly996Ala) c.2984G>C (p.Gly995Ala) c.1931G>C (p.Gly644Ala) c.2777G>C (p.Gly926Ala) c.2297G>C (p.Gly766Ala) | |
| 12 | g.47978649C>T | CA384542033 | COL2A1 | c.2636G>A (p.Gly879Asp) c.2843G>A (p.Gly948Asp) n.1929G>A c.2987G>A (p.Gly996Asp) c.2984G>A (p.Gly995Asp) c.1931G>A (p.Gly644Asp) c.2777G>A (p.Gly926Asp) c.2297G>A (p.Gly766Asp) | |
| 12 | g.47978650C>A | CA384542037 | COL2A1 | c.2635G>T (p.Gly879Cys) c.2842G>T (p.Gly948Cys) n.1928G>T c.2986G>T (p.Gly996Cys) c.2983G>T (p.Gly995Cys) c.1930G>T (p.Gly644Cys) c.2776G>T (p.Gly926Cys) c.2296G>T (p.Gly766Cys) | |
| 12 | g.47978650C>G | CA384542040 | COL2A1 | c.2635G>C (p.Gly879Arg) c.2842G>C (p.Gly948Arg) n.1928G>C c.2986G>C (p.Gly996Arg) c.2983G>C (p.Gly995Arg) c.1930G>C (p.Gly644Arg) c.2776G>C (p.Gly926Arg) c.2296G>C (p.Gly766Arg) | |
| 12 | g.47978650C>T | CA384542042 | COL2A1 | c.2635G>A (p.Gly879Ser) c.2842G>A (p.Gly948Ser) n.1928G>A c.2986G>A (p.Gly996Ser) c.2983G>A (p.Gly995Ser) c.1930G>A (p.Gly644Ser) c.2776G>A (p.Gly926Ser) c.2296G>A (p.Gly766Ser) | |
| 12 | g.47978651T>A | CA384542045 | COL2A1 | c.2634A>T (p.Gln878His) c.2841A>T (p.Gln947His) n.1927A>T c.2985A>T (p.Gln995His) c.2982A>T (p.Gln994His) c.1929A>T (p.Gln643His) c.2775A>T (p.Gln925His) c.2295A>T (p.Gln765His) | |
| 12 | g.47978651T>C | CA479696739 | COL2A1 | c.2634A>G (p.Gln878=) c.2841A>G (p.Gln947=) n.1927A>G c.2985A>G (p.Gln995=) c.2982A>G (p.Gln994=) c.1929A>G (p.Gln643=) c.2775A>G (p.Gln925=) c.2295A>G (p.Gln765=) | dbSNP gnomAD v4 |
| 12 | g.47978651T>G | CA6534973 | COL2A1 | c.2634A>C (p.Gln878His) c.2841A>C (p.Gln947His) n.1927A>C c.2985A>C (p.Gln995His) c.2982A>C (p.Gln994His) c.1929A>C (p.Gln643His) c.2775A>C (p.Gln925His) c.2295A>C (p.Gln765His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978651T= | CA2034476975 | COL2A1 | c.2634A= (p.Gln878=) c.2841A= (p.Gln947=) n.1927A= c.2985A= (p.Gln995=) c.2982A= (p.Gln994=) c.1929A= (p.Gln643=) c.2775A= (p.Gln925=) c.2295A= (p.Gln765=) | |
| 12 | g.47978652T>A | CA384542054 | COL2A1 | c.2633A>T (p.Gln878Leu) c.2840A>T (p.Gln947Leu) n.1926A>T c.2984A>T (p.Gln995Leu) c.2981A>T (p.Gln994Leu) c.1928A>T (p.Gln643Leu) c.2774A>T (p.Gln925Leu) c.2294A>T (p.Gln765Leu) | |
| 12 | g.47978652T>C | CA384542051 | COL2A1 | c.2633A>G (p.Gln878Arg) c.2840A>G (p.Gln947Arg) n.1926A>G c.2984A>G (p.Gln995Arg) c.2981A>G (p.Gln994Arg) c.1928A>G (p.Gln643Arg) c.2774A>G (p.Gln925Arg) c.2294A>G (p.Gln765Arg) | |
| 12 | g.47978652T>G | CA384542049 | COL2A1 | c.2633A>C (p.Gln878Pro) c.2840A>C (p.Gln947Pro) n.1926A>C c.2984A>C (p.Gln995Pro) c.2981A>C (p.Gln994Pro) c.1928A>C (p.Gln643Pro) c.2774A>C (p.Gln925Pro) c.2294A>C (p.Gln765Pro) | |
| 12 | g.47978653G>A | CA384542062 | COL2A1 | c.2632C>T (p.Gln878Ter) c.2839C>T (p.Gln947Ter) n.1925C>T c.2983C>T (p.Gln995Ter) c.2980C>T (p.Gln994Ter) c.1927C>T (p.Gln643Ter) c.2773C>T (p.Gln925Ter) c.2293C>T (p.Gln765Ter) | |
| 12 | g.47978653G>C | CA384542060 | COL2A1 | c.2632C>G (p.Gln878Glu) c.2839C>G (p.Gln947Glu) n.1925C>G c.2983C>G (p.Gln995Glu) c.2980C>G (p.Gln994Glu) c.1927C>G (p.Gln643Glu) c.2773C>G (p.Gln925Glu) c.2293C>G (p.Gln765Glu) | gnomAD v4 |
| 12 | g.47978653G>T | CA384542065 | COL2A1 | c.2632C>A (p.Gln878Lys) c.2839C>A (p.Gln947Lys) n.1925C>A c.2983C>A (p.Gln995Lys) c.2980C>A (p.Gln994Lys) c.1927C>A (p.Gln643Lys) c.2773C>A (p.Gln925Lys) c.2293C>A (p.Gln765Lys) | |
| 12 | g.47978654G>A | CA236521952 | COL2A1 | c.2631C>T (p.Leu877=) c.2838C>T (p.Leu946=) n.1924C>T c.2982C>T (p.Leu994=) c.2979C>T (p.Leu993=) c.1926C>T (p.Leu642=) c.2772C>T (p.Leu924=) c.2292C>T (p.Leu764=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978654G>C | CA236521951 | COL2A1 | c.2631C>G (p.Leu877=) c.2838C>G (p.Leu946=) n.1924C>G c.2982C>G (p.Leu994=) c.2979C>G (p.Leu993=) c.1926C>G (p.Leu642=) c.2772C>G (p.Leu924=) c.2292C>G (p.Leu764=) | dbSNP |
| 12 | g.47978654G= | CA2034476976 | COL2A1 | c.2631C= (p.Leu877=) c.2838C= (p.Leu946=) n.1924C= c.2982C= (p.Leu994=) c.2979C= (p.Leu993=) c.1926C= (p.Leu642=) c.2772C= (p.Leu924=) c.2292C= (p.Leu764=) | |
| 12 | g.47978654G>T | CA479696742 | COL2A1 | c.2631C>A (p.Leu877=) c.2838C>A (p.Leu946=) n.1924C>A c.2982C>A (p.Leu994=) c.2979C>A (p.Leu993=) c.1926C>A (p.Leu642=) c.2772C>A (p.Leu924=) c.2292C>A (p.Leu764=) | |
| 12 | g.47978655A>C | CA384542069 | COL2A1 | c.2630T>G (p.Leu877Arg) c.2837T>G (p.Leu946Arg) n.1923T>G c.2981T>G (p.Leu994Arg) c.2978T>G (p.Leu993Arg) c.1925T>G (p.Leu642Arg) c.2771T>G (p.Leu924Arg) c.2291T>G (p.Leu764Arg) | |
| 12 | g.47978655A>G | CA384542078 | COL2A1 | c.2630T>C (p.Leu877Pro) c.2837T>C (p.Leu946Pro) n.1923T>C c.2981T>C (p.Leu994Pro) c.2978T>C (p.Leu993Pro) c.1925T>C (p.Leu642Pro) c.2771T>C (p.Leu924Pro) c.2291T>C (p.Leu764Pro) | ClinVar dbSNP |
| 12 | g.47978655A>T | CA384542072 | COL2A1 | c.2630T>A (p.Leu877His) c.2837T>A (p.Leu946His) n.1923T>A c.2981T>A (p.Leu994His) c.2978T>A (p.Leu993His) c.1925T>A (p.Leu642His) c.2771T>A (p.Leu924His) c.2291T>A (p.Leu764His) | |
| 12 | g.47978656G>A | CA384542081 | COL2A1 | c.2629C>T (p.Leu877Phe) c.2836C>T (p.Leu946Phe) n.1922C>T c.2980C>T (p.Leu994Phe) c.2977C>T (p.Leu993Phe) c.1924C>T (p.Leu642Phe) c.2770C>T (p.Leu924Phe) c.2290C>T (p.Leu764Phe) | |
| 12 | g.47978656G>C | CA384542087 | COL2A1 | c.2629C>G (p.Leu877Val) c.2836C>G (p.Leu946Val) n.1922C>G c.2980C>G (p.Leu994Val) c.2977C>G (p.Leu993Val) c.1924C>G (p.Leu642Val) c.2770C>G (p.Leu924Val) c.2290C>G (p.Leu764Val) | |
| 12 | g.47978656G>T | CA384542084 | COL2A1 | c.2629C>A (p.Leu877Ile) c.2836C>A (p.Leu946Ile) n.1922C>A c.2980C>A (p.Leu994Ile) c.2977C>A (p.Leu993Ile) c.1924C>A (p.Leu642Ile) c.2770C>A (p.Leu924Ile) c.2290C>A (p.Leu764Ile) | |
| 12 | g.47978657G>A | CA479696744 | COL2A1 | c.2628C>T (p.Gly876=) c.2835C>T (p.Gly945=) n.1921C>T c.2979C>T (p.Gly993=) c.2976C>T (p.Gly992=) c.1923C>T (p.Gly641=) c.2769C>T (p.Gly923=) c.2289C>T (p.Gly763=) | |
| 12 | g.47978657G>C | CA479696745 | COL2A1 | c.2628C>G (p.Gly876=) c.2835C>G (p.Gly945=) n.1921C>G c.2979C>G (p.Gly993=) c.2976C>G (p.Gly992=) c.1923C>G (p.Gly641=) c.2769C>G (p.Gly923=) c.2289C>G (p.Gly763=) | |
| 12 | g.47978657G>T | CA479696746 | COL2A1 | c.2628C>A (p.Gly876=) c.2835C>A (p.Gly945=) n.1921C>A c.2979C>A (p.Gly993=) c.2976C>A (p.Gly992=) c.1923C>A (p.Gly641=) c.2769C>A (p.Gly923=) c.2289C>A (p.Gly763=) | |
| 12 | g.47978658C>A | CA384542088 | COL2A1 | c.2627G>T (p.Gly876Val) c.2834G>T (p.Gly945Val) n.1920G>T c.2978G>T (p.Gly993Val) c.2975G>T (p.Gly992Val) c.1922G>T (p.Gly641Val) c.2768G>T (p.Gly923Val) c.2288G>T (p.Gly763Val) | |
| 12 | g.47978658C>G | CA384542090 | COL2A1 | c.2627G>C (p.Gly876Ala) c.2834G>C (p.Gly945Ala) n.1920G>C c.2978G>C (p.Gly993Ala) c.2975G>C (p.Gly992Ala) c.1922G>C (p.Gly641Ala) c.2768G>C (p.Gly923Ala) c.2288G>C (p.Gly763Ala) | |
| 12 | g.47978658C>T | CA384542089 | COL2A1 | c.2627G>A (p.Gly876Asp) c.2834G>A (p.Gly945Asp) n.1920G>A c.2978G>A (p.Gly993Asp) c.2975G>A (p.Gly992Asp) c.1922G>A (p.Gly641Asp) c.2768G>A (p.Gly923Asp) c.2288G>A (p.Gly763Asp) | |
| 12 | g.47978659C>A | CA384542092 | COL2A1 | c.2626G>T (p.Gly876Cys) c.2833G>T (p.Gly945Cys) n.1919G>T c.2977G>T (p.Gly993Cys) c.2974G>T (p.Gly992Cys) c.1921G>T (p.Gly641Cys) c.2767G>T (p.Gly923Cys) c.2287G>T (p.Gly763Cys) | |
| 12 | g.47978659C= | CA2034476977 | COL2A1 | c.2626G= (p.Gly876=) c.2833G= (p.Gly945=) n.1919G= c.2977G= (p.Gly993=) c.2974G= (p.Gly992=) c.1921G= (p.Gly641=) c.2767G= (p.Gly923=) c.2287G= (p.Gly763=) | |
| 12 | g.47978659C>G | CA384542095 | COL2A1 | c.2626G>C (p.Gly876Arg) c.2833G>C (p.Gly945Arg) n.1919G>C c.2977G>C (p.Gly993Arg) c.2974G>C (p.Gly992Arg) c.1921G>C (p.Gly641Arg) c.2767G>C (p.Gly923Arg) c.2287G>C (p.Gly763Arg) | ClinVar |
| 12 | g.47978659C>T | CA10588549 | COL2A1 | c.2626G>A (p.Gly876Ser) c.2833G>A (p.Gly945Ser) n.1919G>A c.2977G>A (p.Gly993Ser) c.2974G>A (p.Gly992Ser) c.1921G>A (p.Gly641Ser) c.2767G>A (p.Gly923Ser) c.2287G>A (p.Gly763Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978660G>A | CA6534974 | COL2A1 | c.2625C>T (p.Pro875=) c.2832C>T (p.Pro944=) n.1918C>T c.2976C>T (p.Pro992=) c.2973C>T (p.Pro991=) c.1920C>T (p.Pro640=) c.2766C>T (p.Pro922=) c.2286C>T (p.Pro762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978660G>C | CA479696750 | COL2A1 | c.2625C>G (p.Pro875=) c.2832C>G (p.Pro944=) n.1918C>G c.2976C>G (p.Pro992=) c.2973C>G (p.Pro991=) c.1920C>G (p.Pro640=) c.2766C>G (p.Pro922=) c.2286C>G (p.Pro762=) | |
| 12 | g.47978660G= | CA2034476978 | COL2A1 | c.2625C= (p.Pro875=) c.2832C= (p.Pro944=) n.1918C= c.2976C= (p.Pro992=) c.2973C= (p.Pro991=) c.1920C= (p.Pro640=) c.2766C= (p.Pro922=) c.2286C= (p.Pro762=) | |
| 12 | g.47978660G>T | CA479696751 | COL2A1 | c.2625C>A (p.Pro875=) c.2832C>A (p.Pro944=) n.1918C>A c.2976C>A (p.Pro992=) c.2973C>A (p.Pro991=) c.1920C>A (p.Pro640=) c.2766C>A (p.Pro922=) c.2286C>A (p.Pro762=) | |
| 12 | g.47978661G>A | CA6534975 | COL2A1 | c.2624C>T (p.Pro875Leu) c.2831C>T (p.Pro944Leu) n.1917C>T c.2975C>T (p.Pro992Leu) c.2972C>T (p.Pro991Leu) c.1919C>T (p.Pro640Leu) c.2765C>T (p.Pro922Leu) c.2285C>T (p.Pro762Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978661G>C | CA384542101 | COL2A1 | c.2624C>G (p.Pro875Arg) c.2831C>G (p.Pro944Arg) n.1917C>G c.2975C>G (p.Pro992Arg) c.2972C>G (p.Pro991Arg) c.1919C>G (p.Pro640Arg) c.2765C>G (p.Pro922Arg) c.2285C>G (p.Pro762Arg) | |
| 12 | g.47978661G= | CA2034476979 | COL2A1 | c.2624C= (p.Pro875=) c.2831C= (p.Pro944=) n.1917C= c.2975C= (p.Pro992=) c.2972C= (p.Pro991=) c.1919C= (p.Pro640=) c.2765C= (p.Pro922=) c.2285C= (p.Pro762=) | |
| 12 | g.47978661G>T | CA6534976 | COL2A1 | c.2624C>A (p.Pro875His) c.2831C>A (p.Pro944His) n.1917C>A c.2975C>A (p.Pro992His) c.2972C>A (p.Pro991His) c.1919C>A (p.Pro640His) c.2765C>A (p.Pro922His) c.2285C>A (p.Pro762His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978662G>A | CA384542106 | COL2A1 | c.2623C>T (p.Pro875Ser) c.2830C>T (p.Pro944Ser) n.1916C>T c.2974C>T (p.Pro992Ser) c.2971C>T (p.Pro991Ser) c.1918C>T (p.Pro640Ser) c.2764C>T (p.Pro922Ser) c.2284C>T (p.Pro762Ser) | gnomAD v4 |
| 12 | g.47978662G>C | CA384542108 | COL2A1 | c.2623C>G (p.Pro875Ala) c.2830C>G (p.Pro944Ala) n.1916C>G c.2974C>G (p.Pro992Ala) c.2971C>G (p.Pro991Ala) c.1918C>G (p.Pro640Ala) c.2764C>G (p.Pro922Ala) c.2284C>G (p.Pro762Ala) | |
| 12 | g.47978662G>T | CA384542111 | COL2A1 | c.2623C>A (p.Pro875Thr) c.2830C>A (p.Pro944Thr) n.1916C>A c.2974C>A (p.Pro992Thr) c.2971C>A (p.Pro991Thr) c.1918C>A (p.Pro640Thr) c.2764C>A (p.Pro922Thr) c.2284C>A (p.Pro762Thr) | |
| 12 | g.47978663T>A | CA384542112 | COL2A1 | c.2622A>T (p.Glu874Asp) c.2829A>T (p.Glu943Asp) n.1915A>T c.2973A>T (p.Glu991Asp) c.2970A>T (p.Glu990Asp) c.1917A>T (p.Glu639Asp) c.2763A>T (p.Glu921Asp) c.2283A>T (p.Glu761Asp) | |
| 12 | g.47978663T>C | CA479696753 | COL2A1 | c.2622A>G (p.Glu874=) c.2829A>G (p.Glu943=) n.1915A>G c.2973A>G (p.Glu991=) c.2970A>G (p.Glu990=) c.1917A>G (p.Glu639=) c.2763A>G (p.Glu921=) c.2283A>G (p.Glu761=) | |
| 12 | g.47978663T>G | CA384542113 | COL2A1 | c.2622A>C (p.Glu874Asp) c.2829A>C (p.Glu943Asp) n.1915A>C c.2973A>C (p.Glu991Asp) c.2970A>C (p.Glu990Asp) c.1917A>C (p.Glu639Asp) c.2763A>C (p.Glu921Asp) c.2283A>C (p.Glu761Asp) | |
| 12 | g.47978664T>A | CA384542114 | COL2A1 | c.2621A>T (p.Glu874Val) c.2828A>T (p.Glu943Val) n.1914A>T c.2972A>T (p.Glu991Val) c.2969A>T (p.Glu990Val) c.1916A>T (p.Glu639Val) c.2762A>T (p.Glu921Val) c.2282A>T (p.Glu761Val) | |
| 12 | g.47978664T>C | CA384542117 | COL2A1 | c.2621A>G (p.Glu874Gly) c.2828A>G (p.Glu943Gly) n.1914A>G c.2972A>G (p.Glu991Gly) c.2969A>G (p.Glu990Gly) c.1916A>G (p.Glu639Gly) c.2762A>G (p.Glu921Gly) c.2282A>G (p.Glu761Gly) | |
| 12 | g.47978664T>G | CA236521956 | COL2A1 | c.2621A>C (p.Glu874Ala) c.2828A>C (p.Glu943Ala) n.1914A>C c.2972A>C (p.Glu991Ala) c.2969A>C (p.Glu990Ala) c.1916A>C (p.Glu639Ala) c.2762A>C (p.Glu921Ala) c.2282A>C (p.Glu761Ala) | dbSNP |
| 12 | g.47978664T= | CA2034476980 | COL2A1 | c.2621A= (p.Glu874=) c.2828A= (p.Glu943=) n.1914A= c.2972A= (p.Glu991=) c.2969A= (p.Glu990=) c.1916A= (p.Glu639=) c.2762A= (p.Glu921=) c.2282A= (p.Glu761=) | |
| 12 | g.47978665C>A | CA384542118 | COL2A1 | c.2620G>T (p.Glu874Ter) c.2827G>T (p.Glu943Ter) n.1913G>T c.2971G>T (p.Glu991Ter) c.2968G>T (p.Glu990Ter) c.1915G>T (p.Glu639Ter) c.2761G>T (p.Glu921Ter) c.2281G>T (p.Glu761Ter) | |
| 12 | g.47978665C= | CA2034476981 | COL2A1 | c.2620G= (p.Glu874=) c.2827G= (p.Glu943=) n.1913G= c.2971G= (p.Glu991=) c.2968G= (p.Glu990=) c.1915G= (p.Glu639=) c.2761G= (p.Glu921=) c.2281G= (p.Glu761=) | |
| 12 | g.47978665C>G | CA384542121 | COL2A1 | c.2620G>C (p.Glu874Gln) c.2827G>C (p.Glu943Gln) n.1913G>C c.2971G>C (p.Glu991Gln) c.2968G>C (p.Glu990Gln) c.1915G>C (p.Glu639Gln) c.2761G>C (p.Glu921Gln) c.2281G>C (p.Glu761Gln) | |
| 12 | g.47978665C>T | CA384542125 | COL2A1 | c.2620G>A (p.Glu874Lys) c.2827G>A (p.Glu943Lys) n.1913G>A c.2971G>A (p.Glu991Lys) c.2968G>A (p.Glu990Lys) c.1915G>A (p.Glu639Lys) c.2761G>A (p.Glu921Lys) c.2281G>A (p.Glu761Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978666A>C | CA479696756 | COL2A1 | c.2619T>G (p.Gly873=) c.2826T>G (p.Gly942=) n.1912T>G c.2970T>G (p.Gly990=) c.2967T>G (p.Gly989=) c.1914T>G (p.Gly638=) c.2760T>G (p.Gly920=) c.2280T>G (p.Gly760=) | |
| 12 | g.47978666A>G | CA479696757 | COL2A1 | c.2619T>C (p.Gly873=) c.2826T>C (p.Gly942=) n.1912T>C c.2970T>C (p.Gly990=) c.2967T>C (p.Gly989=) c.1914T>C (p.Gly638=) c.2760T>C (p.Gly920=) c.2280T>C (p.Gly760=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978666A>T | CA479696758 | COL2A1 | c.2619T>A (p.Gly873=) c.2826T>A (p.Gly942=) n.1912T>A c.2970T>A (p.Gly990=) c.2967T>A (p.Gly989=) c.1914T>A (p.Gly638=) c.2760T>A (p.Gly920=) c.2280T>A (p.Gly760=) | |
| 12 | g.47978667C>A | CA384542127 | COL2A1 | c.2618G>T (p.Gly873Val) c.2825G>T (p.Gly942Val) n.1911G>T c.2969G>T (p.Gly990Val) c.2966G>T (p.Gly989Val) c.1913G>T (p.Gly638Val) c.2759G>T (p.Gly920Val) c.2279G>T (p.Gly760Val) | |
| 12 | g.47978667C= | CA2034476982 | COL2A1 | c.2618G= (p.Gly873=) c.2825G= (p.Gly942=) n.1911G= c.2969G= (p.Gly990=) c.2966G= (p.Gly989=) c.1913G= (p.Gly638=) c.2759G= (p.Gly920=) c.2279G= (p.Gly760=) | |
| 12 | g.47978667C>G | CA384542131 | COL2A1 | c.2618G>C (p.Gly873Ala) c.2825G>C (p.Gly942Ala) n.1911G>C c.2969G>C (p.Gly990Ala) c.2966G>C (p.Gly989Ala) c.1913G>C (p.Gly638Ala) c.2759G>C (p.Gly920Ala) c.2279G>C (p.Gly760Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978667C>T | CA10603256 | COL2A1 | c.2618G>A (p.Gly873Asp) c.2825G>A (p.Gly942Asp) n.1911G>A c.2969G>A (p.Gly990Asp) c.2966G>A (p.Gly989Asp) c.1913G>A (p.Gly638Asp) c.2759G>A (p.Gly920Asp) c.2279G>A (p.Gly760Asp) | ClinVar dbSNP |
| 12 | g.47978668C>A | CA384542135 | COL2A1 | c.2617G>T (p.Gly873Cys) c.2824G>T (p.Gly942Cys) n.1910G>T c.2968G>T (p.Gly990Cys) c.2965G>T (p.Gly989Cys) c.1912G>T (p.Gly638Cys) c.2758G>T (p.Gly920Cys) c.2278G>T (p.Gly760Cys) | |
| 12 | g.47978668C>G | CA384542139 | COL2A1 | c.2617G>C (p.Gly873Arg) c.2824G>C (p.Gly942Arg) n.1910G>C c.2968G>C (p.Gly990Arg) c.2965G>C (p.Gly989Arg) c.1912G>C (p.Gly638Arg) c.2758G>C (p.Gly920Arg) c.2278G>C (p.Gly760Arg) | |
| 12 | g.47978668C>T | CA384542142 | COL2A1 | c.2617G>A (p.Gly873Ser) c.2824G>A (p.Gly942Ser) n.1910G>A c.2968G>A (p.Gly990Ser) c.2965G>A (p.Gly989Ser) c.1912G>A (p.Gly638Ser) c.2758G>A (p.Gly920Ser) c.2278G>A (p.Gly760Ser) | |
| 12 | g.47978669A>C | CA479696760 | COL2A1 | c.2616T>G (p.Ala872=) c.2823T>G (p.Ala941=) n.1909T>G c.2967T>G (p.Ala989=) c.2964T>G (p.Ala988=) c.1911T>G (p.Ala637=) c.2757T>G (p.Ala919=) c.2277T>G (p.Ala759=) | |
| 12 | g.47978669A>G | CA479696761 | COL2A1 | c.2616T>C (p.Ala872=) c.2823T>C (p.Ala941=) n.1909T>C c.2967T>C (p.Ala989=) c.2964T>C (p.Ala988=) c.1911T>C (p.Ala637=) c.2757T>C (p.Ala919=) c.2277T>C (p.Ala759=) | |
| 12 | g.47978669A>T | CA479696762 | COL2A1 | c.2616T>A (p.Ala872=) c.2823T>A (p.Ala941=) n.1909T>A c.2967T>A (p.Ala989=) c.2964T>A (p.Ala988=) c.1911T>A (p.Ala637=) c.2757T>A (p.Ala919=) c.2277T>A (p.Ala759=) | |
| 12 | g.47978670G>A | CA236521957 | COL2A1 | c.2615C>T (p.Ala872Val) c.2822C>T (p.Ala941Val) n.1908C>T c.2966C>T (p.Ala989Val) c.2963C>T (p.Ala988Val) c.1910C>T (p.Ala637Val) c.2756C>T (p.Ala919Val) c.2276C>T (p.Ala759Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.47978670G>C | CA384542147 | COL2A1 | c.2615C>G (p.Ala872Gly) c.2822C>G (p.Ala941Gly) n.1908C>G c.2966C>G (p.Ala989Gly) c.2963C>G (p.Ala988Gly) c.1910C>G (p.Ala637Gly) c.2756C>G (p.Ala919Gly) c.2276C>G (p.Ala759Gly) | |
| 12 | g.47978670G= | CA2034476983 | COL2A1 | c.2615C= (p.Ala872=) c.2822C= (p.Ala941=) n.1908C= c.2966C= (p.Ala989=) c.2963C= (p.Ala988=) c.1910C= (p.Ala637=) c.2756C= (p.Ala919=) c.2276C= (p.Ala759=) | |
| 12 | g.47978670G>T | CA384542151 | COL2A1 | c.2615C>A (p.Ala872Asp) c.2822C>A (p.Ala941Asp) n.1908C>A c.2966C>A (p.Ala989Asp) c.2963C>A (p.Ala988Asp) c.1910C>A (p.Ala637Asp) c.2756C>A (p.Ala919Asp) c.2276C>A (p.Ala759Asp) | |
| 12 | g.47978671C>A | CA384542155 | COL2A1 | c.2614G>T (p.Ala872Ser) c.2821G>T (p.Ala941Ser) n.1907G>T c.2965G>T (p.Ala989Ser) c.2962G>T (p.Ala988Ser) c.1909G>T (p.Ala637Ser) c.2755G>T (p.Ala919Ser) c.2275G>T (p.Ala759Ser) | |
| 12 | g.47978671C>G | CA384542158 | COL2A1 | c.2614G>C (p.Ala872Pro) c.2821G>C (p.Ala941Pro) n.1907G>C c.2965G>C (p.Ala989Pro) c.2962G>C (p.Ala988Pro) c.1909G>C (p.Ala637Pro) c.2755G>C (p.Ala919Pro) c.2275G>C (p.Ala759Pro) | gnomAD v4 |
| 12 | g.47978671C>T | CA384542161 | COL2A1 | c.2614G>A (p.Ala872Thr) c.2821G>A (p.Ala941Thr) n.1907G>A c.2965G>A (p.Ala989Thr) c.2962G>A (p.Ala988Thr) c.1909G>A (p.Ala637Thr) c.2755G>A (p.Ala919Thr) c.2275G>A (p.Ala759Thr) | |
| 12 | g.47978672T>A | CA479696763 | COL2A1 | c.2613A>T (p.Arg871=) c.2820A>T (p.Arg940=) n.1906A>T c.2964A>T (p.Arg988=) c.2961A>T (p.Arg987=) c.1908A>T (p.Arg636=) c.2754A>T (p.Arg918=) c.2274A>T (p.Arg758=) | |
| 12 | g.47978672T>C | CA479696764 | COL2A1 | c.2613A>G (p.Arg871=) c.2820A>G (p.Arg940=) n.1906A>G c.2964A>G (p.Arg988=) c.2961A>G (p.Arg987=) c.1908A>G (p.Arg636=) c.2754A>G (p.Arg918=) c.2274A>G (p.Arg758=) | |
| 12 | g.47978672T>G | CA479696765 | COL2A1 | c.2613A>C (p.Arg871=) c.2820A>C (p.Arg940=) n.1906A>C c.2964A>C (p.Arg988=) c.2961A>C (p.Arg987=) c.1908A>C (p.Arg636=) c.2754A>C (p.Arg918=) c.2274A>C (p.Arg758=) | |
| 12 | g.47978673C>A | CA384542169 | COL2A1 | c.2612G>T (p.Arg871Leu) c.2819G>T (p.Arg940Leu) n.1905G>T c.2963G>T (p.Arg988Leu) c.2960G>T (p.Arg987Leu) c.1907G>T (p.Arg636Leu) c.2753G>T (p.Arg918Leu) c.2273G>T (p.Arg758Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978673C= | CA2034476984 | COL2A1 | c.2612G= (p.Arg871=) c.2819G= (p.Arg940=) n.1905G= c.2963G= (p.Arg988=) c.2960G= (p.Arg987=) c.1907G= (p.Arg636=) c.2753G= (p.Arg918=) c.2273G= (p.Arg758=) | |
| 12 | g.47978673C>G | CA236521959 | COL2A1 | c.2612G>C (p.Arg871Pro) c.2819G>C (p.Arg940Pro) n.1905G>C c.2963G>C (p.Arg988Pro) c.2960G>C (p.Arg987Pro) c.1907G>C (p.Arg636Pro) c.2753G>C (p.Arg918Pro) c.2273G>C (p.Arg758Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978673C>T | CA6534977 | COL2A1 | c.2612G>A (p.Arg871Gln) c.2819G>A (p.Arg940Gln) n.1905G>A c.2963G>A (p.Arg988Gln) c.2960G>A (p.Arg987Gln) c.1907G>A (p.Arg636Gln) c.2753G>A (p.Arg918Gln) c.2273G>A (p.Arg758Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978674G>A | CA16606625 | COL2A1 | c.2611C>T (p.Arg871Ter) c.2818C>T (p.Arg940Ter) n.1904C>T c.2962C>T (p.Arg988Ter) c.2959C>T (p.Arg987Ter) c.1906C>T (p.Arg636Ter) c.2752C>T (p.Arg918Ter) c.2272C>T (p.Arg758Ter) | ClinVar dbSNP |
| 12 | g.47978674G>C | CA384542172 | COL2A1 | c.2611C>G (p.Arg871Gly) c.2818C>G (p.Arg940Gly) n.1904C>G c.2962C>G (p.Arg988Gly) c.2959C>G (p.Arg987Gly) c.1906C>G (p.Arg636Gly) c.2752C>G (p.Arg918Gly) c.2272C>G (p.Arg758Gly) | |
| 12 | g.47978674G= | CA2034476985 | COL2A1 | c.2611C= (p.Arg871=) c.2818C= (p.Arg940=) n.1904C= c.2962C= (p.Arg988=) c.2959C= (p.Arg987=) c.1906C= (p.Arg636=) c.2752C= (p.Arg918=) c.2272C= (p.Arg758=) | |
| 12 | g.47978674G>T | CA479696767 | COL2A1 | c.2611C>A (p.Arg871=) c.2818C>A (p.Arg940=) n.1904C>A c.2962C>A (p.Arg988=) c.2959C>A (p.Arg987=) c.1906C>A (p.Arg636=) c.2752C>A (p.Arg918=) c.2272C>A (p.Arg758=) | ClinVar |
| 12 | g.47978675G>A | CA479696768 | COL2A1 | c.2610C>T (p.Gly870=) c.2817C>T (p.Gly939=) n.1903C>T c.2961C>T (p.Gly987=) c.2958C>T (p.Gly986=) c.1905C>T (p.Gly635=) c.2751C>T (p.Gly917=) c.2271C>T (p.Gly757=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978675G>C | CA479696769 | COL2A1 | c.2610C>G (p.Gly870=) c.2817C>G (p.Gly939=) n.1903C>G c.2961C>G (p.Gly987=) c.2958C>G (p.Gly986=) c.1905C>G (p.Gly635=) c.2751C>G (p.Gly917=) c.2271C>G (p.Gly757=) | |
| 12 | g.47978675G= | CA2034476986 | COL2A1 | c.2610C= (p.Gly870=) c.2817C= (p.Gly939=) n.1903C= c.2961C= (p.Gly987=) c.2958C= (p.Gly986=) c.1905C= (p.Gly635=) c.2751C= (p.Gly917=) c.2271C= (p.Gly757=) | |
| 12 | g.47978675G>T | CA479696770 | COL2A1 | c.2610C>A (p.Gly870=) c.2817C>A (p.Gly939=) n.1903C>A c.2961C>A (p.Gly987=) c.2958C>A (p.Gly986=) c.1905C>A (p.Gly635=) c.2751C>A (p.Gly917=) c.2271C>A (p.Gly757=) | |
| 12 | g.47978676C>A | CA384542177 | COL2A1 | c.2609G>T (p.Gly870Val) c.2816G>T (p.Gly939Val) n.1902G>T c.2960G>T (p.Gly987Val) c.2957G>T (p.Gly986Val) c.1904G>T (p.Gly635Val) c.2750G>T (p.Gly917Val) c.2270G>T (p.Gly757Val) | |
| 12 | g.47978676C= | CA2034476987 | COL2A1 | c.2609G= (p.Gly870=) c.2816G= (p.Gly939=) n.1902G= c.2960G= (p.Gly987=) c.2957G= (p.Gly986=) c.1904G= (p.Gly635=) c.2750G= (p.Gly917=) c.2270G= (p.Gly757=) | |
| 12 | g.47978676C>G | CA384542178 | COL2A1 | c.2609G>C (p.Gly870Ala) c.2816G>C (p.Gly939Ala) n.1902G>C c.2960G>C (p.Gly987Ala) c.2957G>C (p.Gly986Ala) c.1904G>C (p.Gly635Ala) c.2750G>C (p.Gly917Ala) c.2270G>C (p.Gly757Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978676C>T | CA384542179 | COL2A1 | c.2609G>A (p.Gly870Asp) c.2816G>A (p.Gly939Asp) n.1902G>A c.2960G>A (p.Gly987Asp) c.2957G>A (p.Gly986Asp) c.1904G>A (p.Gly635Asp) c.2750G>A (p.Gly917Asp) c.2270G>A (p.Gly757Asp) | |
| 12 | g.47978677C>A | CA384542180 | COL2A1 | c.2608G>T (p.Gly870Cys) c.2815G>T (p.Gly939Cys) n.1901G>T c.2959G>T (p.Gly987Cys) c.2956G>T (p.Gly986Cys) c.1903G>T (p.Gly635Cys) c.2749G>T (p.Gly917Cys) c.2269G>T (p.Gly757Cys) | |
| 12 | g.47978677C>G | CA384542181 | COL2A1 | c.2608G>C (p.Gly870Arg) c.2815G>C (p.Gly939Arg) n.1901G>C c.2959G>C (p.Gly987Arg) c.2956G>C (p.Gly986Arg) c.1903G>C (p.Gly635Arg) c.2749G>C (p.Gly917Arg) c.2269G>C (p.Gly757Arg) | |
| 12 | g.47978677C>T | CA384542185 | COL2A1 | c.2608G>A (p.Gly870Ser) c.2815G>A (p.Gly939Ser) n.1901G>A c.2959G>A (p.Gly987Ser) c.2956G>A (p.Gly986Ser) c.1903G>A (p.Gly635Ser) c.2749G>A (p.Gly917Ser) c.2269G>A (p.Gly757Ser) | |
| 12 | g.47978677_47978678delinsCA | CA2034476988 | COL2A1 | c.2607_2608delinsTG (p.Pro869=) c.2814_2815delinsTG (p.Pro938=) n.1900_1901delinsTG c.2958_2959delinsTG (p.Pro986=) c.2955_2956delinsTG (p.Pro985=) c.1902_1903delinsTG (p.Pro634=) c.2748_2749delinsTG (p.Pro916=) c.2268_2269delinsTG (p.Pro756=) | |
| 12 | g.47978678del | CA645372910 | COL2A1 | c.2607del (p.Gly870AlafsTer?) c.2814del (p.Gly939AlafsTer?) n.1900del c.2958del (p.Gly987AlafsTer?) c.2955del (p.Gly986AlafsTer?) c.1902del (p.Gly635AlafsTer?) c.2748del (p.Gly917AlafsTer?) c.2268del (p.Gly757AlafsTer?) | ClinVar dbSNP |
| 12 | g.47978678A>C | CA479696773 | COL2A1 | c.2607T>G (p.Pro869=) c.2814T>G (p.Pro938=) n.1900T>G c.2958T>G (p.Pro986=) c.2955T>G (p.Pro985=) c.1902T>G (p.Pro634=) c.2748T>G (p.Pro916=) c.2268T>G (p.Pro756=) | |
| 12 | g.47978678A>G | CA479696772 | COL2A1 | c.2607T>C (p.Pro869=) c.2814T>C (p.Pro938=) n.1900T>C c.2958T>C (p.Pro986=) c.2955T>C (p.Pro985=) c.1902T>C (p.Pro634=) c.2748T>C (p.Pro916=) c.2268T>C (p.Pro756=) | |
| 12 | g.47978678A>T | CA479696771 | COL2A1 | c.2607T>A (p.Pro869=) c.2814T>A (p.Pro938=) n.1900T>A c.2958T>A (p.Pro986=) c.2955T>A (p.Pro985=) c.1902T>A (p.Pro634=) c.2748T>A (p.Pro916=) c.2268T>A (p.Pro756=) | |
| 12 | g.47978678_47978679delinsAG | CA2034476989 | COL2A1 | c.2606_2607delinsCT (p.Pro869=) c.2813_2814delinsCT (p.Pro938=) n.1899_1900delinsCT c.2957_2958delinsCT (p.Pro986=) c.2954_2955delinsCT (p.Pro985=) c.1901_1902delinsCT (p.Pro634=) c.2747_2748delinsCT (p.Pro916=) c.2267_2268delinsCT (p.Pro756=) | |
| 12 | g.47978679G>A | CA384542188 | COL2A1 | c.2606C>T (p.Pro869Leu) c.2813C>T (p.Pro938Leu) n.1899C>T c.2957C>T (p.Pro986Leu) c.2954C>T (p.Pro985Leu) c.1901C>T (p.Pro634Leu) c.2747C>T (p.Pro916Leu) c.2267C>T (p.Pro756Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978679G>C | CA384542189 | COL2A1 | c.2606C>G (p.Pro869Arg) c.2813C>G (p.Pro938Arg) n.1899C>G c.2957C>G (p.Pro986Arg) c.2954C>G (p.Pro985Arg) c.1901C>G (p.Pro634Arg) c.2747C>G (p.Pro916Arg) c.2267C>G (p.Pro756Arg) | |
| 12 | g.47978679G= | CA2034476990 | COL2A1 | c.2606C= (p.Pro869=) c.2813C= (p.Pro938=) n.1899C= c.2957C= (p.Pro986=) c.2954C= (p.Pro985=) c.1901C= (p.Pro634=) c.2747C= (p.Pro916=) c.2267C= (p.Pro756=) | |
| 12 | g.47978679G>T | CA384542191 | COL2A1 | c.2606C>A (p.Pro869His) c.2813C>A (p.Pro938His) n.1899C>A c.2957C>A (p.Pro986His) c.2954C>A (p.Pro985His) c.1901C>A (p.Pro634His) c.2747C>A (p.Pro916His) c.2267C>A (p.Pro756His) | |
| 12 | g.47978684dup | CA605231529 | COL2A1 | c.2606dup (p.Gly870TrpfsTer5) c.2813dup (p.Gly939TrpfsTer5) n.1899dup c.2957dup (p.Gly987TrpfsTer5) c.2954dup (p.Gly986TrpfsTer5) c.1901dup (p.Gly635TrpfsTer5) c.2747dup (p.Gly917TrpfsTer5) c.2267dup (p.Gly757TrpfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978684del | CA10588550 | COL2A1 | c.2606del (p.Pro869LeufsTer?) c.2813del (p.Pro938LeufsTer?) n.1899del c.2957del (p.Pro986LeufsTer?) c.2954del (p.Pro985LeufsTer?) c.1901del (p.Pro634LeufsTer?) c.2747del (p.Pro916LeufsTer?) c.2267del (p.Pro756LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978680G>A | CA236521967 | COL2A1 | c.2605C>T (p.Pro869Ser) c.2812C>T (p.Pro938Ser) n.1898C>T c.2956C>T (p.Pro986Ser) c.2953C>T (p.Pro985Ser) c.1900C>T (p.Pro634Ser) c.2746C>T (p.Pro916Ser) c.2266C>T (p.Pro756Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978680G>C | CA384542192 | COL2A1 | c.2605C>G (p.Pro869Ala) c.2812C>G (p.Pro938Ala) n.1898C>G c.2956C>G (p.Pro986Ala) c.2953C>G (p.Pro985Ala) c.1900C>G (p.Pro634Ala) c.2746C>G (p.Pro916Ala) c.2266C>G (p.Pro756Ala) | |
| 12 | g.47978680G= | CA2034476991 | COL2A1 | c.2605C= (p.Pro869=) c.2812C= (p.Pro938=) n.1898C= c.2956C= (p.Pro986=) c.2953C= (p.Pro985=) c.1900C= (p.Pro634=) c.2746C= (p.Pro916=) c.2266C= (p.Pro756=) | |
| 12 | g.47978680G>T | CA384542193 | COL2A1 | c.2605C>A (p.Pro869Thr) c.2812C>A (p.Pro938Thr) n.1898C>A c.2956C>A (p.Pro986Thr) c.2953C>A (p.Pro985Thr) c.1900C>A (p.Pro634Thr) c.2746C>A (p.Pro916Thr) c.2266C>A (p.Pro756Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978681G>A | CA479696777 | COL2A1 | c.2604C>T (p.Pro868=) c.2811C>T (p.Pro937=) n.1897C>T c.2955C>T (p.Pro985=) c.2952C>T (p.Pro984=) c.1899C>T (p.Pro633=) c.2745C>T (p.Pro915=) c.2265C>T (p.Pro755=) | COSMIC COSMIC |
| 12 | g.47978681G>C | CA479696778 | COL2A1 | c.2604C>G (p.Pro868=) c.2811C>G (p.Pro937=) n.1897C>G c.2955C>G (p.Pro985=) c.2952C>G (p.Pro984=) c.1899C>G (p.Pro633=) c.2745C>G (p.Pro915=) c.2265C>G (p.Pro755=) | |
| 12 | g.47978681G>T | CA479696779 | COL2A1 | c.2604C>A (p.Pro868=) c.2811C>A (p.Pro937=) n.1897C>A c.2955C>A (p.Pro985=) c.2952C>A (p.Pro984=) c.1899C>A (p.Pro633=) c.2745C>A (p.Pro915=) c.2265C>A (p.Pro755=) | |
| 12 | g.47978682G>A | CA384542198 | COL2A1 | c.2603C>T (p.Pro868Leu) c.2810C>T (p.Pro937Leu) n.1896C>T c.2954C>T (p.Pro985Leu) c.2951C>T (p.Pro984Leu) c.1898C>T (p.Pro633Leu) c.2744C>T (p.Pro915Leu) c.2264C>T (p.Pro755Leu) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47978682G>C | CA384542201 | COL2A1 | c.2603C>G (p.Pro868Arg) c.2810C>G (p.Pro937Arg) n.1896C>G c.2954C>G (p.Pro985Arg) c.2951C>G (p.Pro984Arg) c.1898C>G (p.Pro633Arg) c.2744C>G (p.Pro915Arg) c.2264C>G (p.Pro755Arg) | |
| 12 | g.47978682G>T | CA384542204 | COL2A1 | c.2603C>A (p.Pro868His) c.2810C>A (p.Pro937His) n.1896C>A c.2954C>A (p.Pro985His) c.2951C>A (p.Pro984His) c.1898C>A (p.Pro633His) c.2744C>A (p.Pro915His) c.2264C>A (p.Pro755His) | gnomAD v4 |
| 12 | g.47978683G>A | CA384542207 | COL2A1 | c.2602C>T (p.Pro868Ser) c.2809C>T (p.Pro937Ser) n.1895C>T c.2953C>T (p.Pro985Ser) c.2950C>T (p.Pro984Ser) c.1897C>T (p.Pro633Ser) c.2743C>T (p.Pro915Ser) c.2263C>T (p.Pro755Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978683G>C | CA384542209 | COL2A1 | c.2602C>G (p.Pro868Ala) c.2809C>G (p.Pro937Ala) n.1895C>G c.2953C>G (p.Pro985Ala) c.2950C>G (p.Pro984Ala) c.1897C>G (p.Pro633Ala) c.2743C>G (p.Pro915Ala) c.2263C>G (p.Pro755Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978683G= | CA2034476992 | COL2A1 | c.2602C= (p.Pro868=) c.2809C= (p.Pro937=) n.1895C= c.2953C= (p.Pro985=) c.2950C= (p.Pro984=) c.1897C= (p.Pro633=) c.2743C= (p.Pro915=) c.2263C= (p.Pro755=) | |
| 12 | g.47978683G>T | CA384542211 | COL2A1 | c.2602C>A (p.Pro868Thr) c.2809C>A (p.Pro937Thr) n.1895C>A c.2953C>A (p.Pro985Thr) c.2950C>A (p.Pro984Thr) c.1897C>A (p.Pro633Thr) c.2743C>A (p.Pro915Thr) c.2263C>A (p.Pro755Thr) | |
| 12 | g.47978684G>A | CA479696782 | COL2A1 | c.2601C>T (p.Gly867=) c.2808C>T (p.Gly936=) n.1894C>T c.2952C>T (p.Gly984=) c.2949C>T (p.Gly983=) c.1896C>T (p.Gly632=) c.2742C>T (p.Gly914=) c.2262C>T (p.Gly754=) | dbSNP |
| 12 | g.47978684G>C | CA479696780 | COL2A1 | c.2601C>G (p.Gly867=) c.2808C>G (p.Gly936=) n.1894C>G c.2952C>G (p.Gly984=) c.2949C>G (p.Gly983=) c.1896C>G (p.Gly632=) c.2742C>G (p.Gly914=) c.2262C>G (p.Gly754=) | gnomAD v4 |
| 12 | g.47978684G= | CA2034476993 | COL2A1 | c.2601C= (p.Gly867=) c.2808C= (p.Gly936=) n.1894C= c.2952C= (p.Gly984=) c.2949C= (p.Gly983=) c.1896C= (p.Gly632=) c.2742C= (p.Gly914=) c.2262C= (p.Gly754=) | |
| 12 | g.47978684G>T | CA479696781 | COL2A1 | c.2601C>A (p.Gly867=) c.2808C>A (p.Gly936=) n.1894C>A c.2952C>A (p.Gly984=) c.2949C>A (p.Gly983=) c.1896C>A (p.Gly632=) c.2742C>A (p.Gly914=) c.2262C>A (p.Gly754=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978685C>A | CA384542217 | COL2A1 | c.2600G>T (p.Gly867Val) c.2807G>T (p.Gly936Val) n.1893G>T c.2951G>T (p.Gly984Val) c.2948G>T (p.Gly983Val) c.1895G>T (p.Gly632Val) c.2741G>T (p.Gly914Val) c.2261G>T (p.Gly754Val) | |
| 12 | g.47978685C>G | CA384542219 | COL2A1 | c.2600G>C (p.Gly867Ala) c.2807G>C (p.Gly936Ala) n.1893G>C c.2951G>C (p.Gly984Ala) c.2948G>C (p.Gly983Ala) c.1895G>C (p.Gly632Ala) c.2741G>C (p.Gly914Ala) c.2261G>C (p.Gly754Ala) | |
| 12 | g.47978685C>T | CA384542223 | COL2A1 | c.2600G>A (p.Gly867Asp) c.2807G>A (p.Gly936Asp) n.1893G>A c.2951G>A (p.Gly984Asp) c.2948G>A (p.Gly983Asp) c.1895G>A (p.Gly632Asp) c.2741G>A (p.Gly914Asp) c.2261G>A (p.Gly754Asp) | |
| 12 | g.47978686C>A | CA384542228 | COL2A1 | c.2599G>T (p.Gly867Cys) c.2806G>T (p.Gly936Cys) n.1892G>T c.2950G>T (p.Gly984Cys) c.2947G>T (p.Gly983Cys) c.1894G>T (p.Gly632Cys) c.2740G>T (p.Gly914Cys) c.2260G>T (p.Gly754Cys) | |
| 12 | g.47978686C= | CA2034476994 | COL2A1 | c.2599G= (p.Gly867=) c.2806G= (p.Gly936=) n.1892G= c.2950G= (p.Gly984=) c.2947G= (p.Gly983=) c.1894G= (p.Gly632=) c.2740G= (p.Gly914=) c.2260G= (p.Gly754=) | |
| 12 | g.47978686C>G | CA384542230 | COL2A1 | c.2599G>C (p.Gly867Arg) c.2806G>C (p.Gly936Arg) n.1892G>C c.2950G>C (p.Gly984Arg) c.2947G>C (p.Gly983Arg) c.1894G>C (p.Gly632Arg) c.2740G>C (p.Gly914Arg) c.2260G>C (p.Gly754Arg) | |
| 12 | g.47978686C>T | CA6534978 | COL2A1 | c.2599G>A (p.Gly867Ser) c.2806G>A (p.Gly936Ser) n.1892G>A c.2950G>A (p.Gly984Ser) c.2947G>A (p.Gly983Ser) c.1894G>A (p.Gly632Ser) c.2740G>A (p.Gly914Ser) c.2260G>A (p.Gly754Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978687G>A | CA236521970 | COL2A1 | c.2598C>T (p.Ser866=) c.2805C>T (p.Ser935=) n.1891C>T c.2949C>T (p.Ser983=) c.2946C>T (p.Ser982=) c.1893C>T (p.Ser631=) c.2739C>T (p.Ser913=) c.2259C>T (p.Ser753=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978687G>C | CA384542234 | COL2A1 | c.2598C>G (p.Ser866Arg) c.2805C>G (p.Ser935Arg) n.1891C>G c.2949C>G (p.Ser983Arg) c.2946C>G (p.Ser982Arg) c.1893C>G (p.Ser631Arg) c.2739C>G (p.Ser913Arg) c.2259C>G (p.Ser753Arg) | |
| 12 | g.47978687G= | CA2034476995 | COL2A1 | c.2598C= (p.Ser866=) c.2805C= (p.Ser935=) n.1891C= c.2949C= (p.Ser983=) c.2946C= (p.Ser982=) c.1893C= (p.Ser631=) c.2739C= (p.Ser913=) c.2259C= (p.Ser753=) | |
| 12 | g.47978687G>T | CA384542237 | COL2A1 | c.2598C>A (p.Ser866Arg) c.2805C>A (p.Ser935Arg) n.1891C>A c.2949C>A (p.Ser983Arg) c.2946C>A (p.Ser982Arg) c.1893C>A (p.Ser631Arg) c.2739C>A (p.Ser913Arg) c.2259C>A (p.Ser753Arg) | |
| 12 | g.47978688C>A | CA384542240 | COL2A1 | c.2597G>T (p.Ser866Ile) c.2804G>T (p.Ser935Ile) n.1890G>T c.2948G>T (p.Ser983Ile) c.2945G>T (p.Ser982Ile) c.1892G>T (p.Ser631Ile) c.2738G>T (p.Ser913Ile) c.2258G>T (p.Ser753Ile) | |
| 12 | g.47978688C>G | CA384542246 | COL2A1 | c.2597G>C (p.Ser866Thr) c.2804G>C (p.Ser935Thr) n.1890G>C c.2948G>C (p.Ser983Thr) c.2945G>C (p.Ser982Thr) c.1892G>C (p.Ser631Thr) c.2738G>C (p.Ser913Thr) c.2258G>C (p.Ser753Thr) | |
| 12 | g.47978688C>T | CA384542243 | COL2A1 | c.2597G>A (p.Ser866Asn) c.2804G>A (p.Ser935Asn) n.1890G>A c.2948G>A (p.Ser983Asn) c.2945G>A (p.Ser982Asn) c.1892G>A (p.Ser631Asn) c.2738G>A (p.Ser913Asn) c.2258G>A (p.Ser753Asn) | ClinVar gnomAD v4 |
| 12 | g.47978689T>A | CA384542249 | COL2A1 | c.2596A>T (p.Ser866Cys) c.2803A>T (p.Ser935Cys) n.1889A>T c.2947A>T (p.Ser983Cys) c.2944A>T (p.Ser982Cys) c.1891A>T (p.Ser631Cys) c.2737A>T (p.Ser913Cys) c.2257A>T (p.Ser753Cys) | |
| 12 | g.47978689T>C | CA384542251 | COL2A1 | c.2596A>G (p.Ser866Gly) c.2803A>G (p.Ser935Gly) n.1889A>G c.2947A>G (p.Ser983Gly) c.2944A>G (p.Ser982Gly) c.1891A>G (p.Ser631Gly) c.2737A>G (p.Ser913Gly) c.2257A>G (p.Ser753Gly) | |
| 12 | g.47978689T>G | CA384542252 | COL2A1 | c.2596A>C (p.Ser866Arg) c.2803A>C (p.Ser935Arg) n.1889A>C c.2947A>C (p.Ser983Arg) c.2944A>C (p.Ser982Arg) c.1891A>C (p.Ser631Arg) c.2737A>C (p.Ser913Arg) c.2257A>C (p.Ser753Arg) | |
| 12 | g.47978690G>A | CA479696783 | COL2A1 | c.2595C>T (p.Asp865=) c.2802C>T (p.Asp934=) n.1888C>T c.2946C>T (p.Asp982=) c.2943C>T (p.Asp981=) c.1890C>T (p.Asp630=) c.2736C>T (p.Asp912=) c.2256C>T (p.Asp752=) | |
| 12 | g.47978690G>C | CA384542253 | COL2A1 | c.2595C>G (p.Asp865Glu) c.2802C>G (p.Asp934Glu) n.1888C>G c.2946C>G (p.Asp982Glu) c.2943C>G (p.Asp981Glu) c.1890C>G (p.Asp630Glu) c.2736C>G (p.Asp912Glu) c.2256C>G (p.Asp752Glu) | dbSNP |
| 12 | g.47978690G= | CA2034476996 | COL2A1 | c.2595C= (p.Asp865=) c.2802C= (p.Asp934=) n.1888C= c.2946C= (p.Asp982=) c.2943C= (p.Asp981=) c.1890C= (p.Asp630=) c.2736C= (p.Asp912=) c.2256C= (p.Asp752=) | |
| 12 | g.47978690G>T | CA384542256 | COL2A1 | c.2595C>A (p.Asp865Glu) c.2802C>A (p.Asp934Glu) n.1888C>A c.2946C>A (p.Asp982Glu) c.2943C>A (p.Asp981Glu) c.1890C>A (p.Asp630Glu) c.2736C>A (p.Asp912Glu) c.2256C>A (p.Asp752Glu) | |
| 12 | g.47978691T>A | CA384542260 | COL2A1 | c.2594A>T (p.Asp865Val) c.2801A>T (p.Asp934Val) n.1887A>T c.2945A>T (p.Asp982Val) c.2942A>T (p.Asp981Val) c.1889A>T (p.Asp630Val) c.2735A>T (p.Asp912Val) c.2255A>T (p.Asp752Val) | |
| 12 | g.47978691T>C | CA384542261 | COL2A1 | c.2594A>G (p.Asp865Gly) c.2801A>G (p.Asp934Gly) n.1887A>G c.2945A>G (p.Asp982Gly) c.2942A>G (p.Asp981Gly) c.1889A>G (p.Asp630Gly) c.2735A>G (p.Asp912Gly) c.2255A>G (p.Asp752Gly) | |
| 12 | g.47978691T>G | CA384542271 | COL2A1 | c.2594A>C (p.Asp865Ala) c.2801A>C (p.Asp934Ala) n.1887A>C c.2945A>C (p.Asp982Ala) c.2942A>C (p.Asp981Ala) c.1889A>C (p.Asp630Ala) c.2735A>C (p.Asp912Ala) c.2255A>C (p.Asp752Ala) | |
| 12 | g.47978692C>A | CA384542275 | COL2A1 | c.2593G>T (p.Asp865Tyr) c.2800G>T (p.Asp934Tyr) n.1886G>T c.2944G>T (p.Asp982Tyr) c.2941G>T (p.Asp981Tyr) c.1888G>T (p.Asp630Tyr) c.2734G>T (p.Asp912Tyr) c.2254G>T (p.Asp752Tyr) | |
| 12 | g.47978692C= | CA2034476997 | COL2A1 | c.2593G= (p.Asp865=) c.2800G= (p.Asp934=) n.1886G= c.2944G= (p.Asp982=) c.2941G= (p.Asp981=) c.1888G= (p.Asp630=) c.2734G= (p.Asp912=) c.2254G= (p.Asp752=) | |
| 12 | g.47978692C>G | CA384542278 | COL2A1 | c.2593G>C (p.Asp865His) c.2800G>C (p.Asp934His) n.1886G>C c.2944G>C (p.Asp982His) c.2941G>C (p.Asp981His) c.1888G>C (p.Asp630His) c.2734G>C (p.Asp912His) c.2254G>C (p.Asp752His) | ClinVar dbSNP |
| 12 | g.47978692C>T | CA384542281 | COL2A1 | c.2593G>A (p.Asp865Asn) c.2800G>A (p.Asp934Asn) n.1886G>A c.2944G>A (p.Asp982Asn) c.2941G>A (p.Asp981Asn) c.1888G>A (p.Asp630Asn) c.2734G>A (p.Asp912Asn) c.2254G>A (p.Asp752Asn) | gnomAD v4 |
| 12 | g.47978693T>A | CA479696784 | COL2A1 | c.2592A>T (p.Gly864=) c.2799A>T (p.Gly933=) n.1885A>T c.2943A>T (p.Gly981=) c.2940A>T (p.Gly980=) c.1887A>T (p.Gly629=) c.2733A>T (p.Gly911=) c.2253A>T (p.Gly751=) | |
| 12 | g.47978693T>C | CA479696785 | COL2A1 | c.2592A>G (p.Gly864=) c.2799A>G (p.Gly933=) n.1885A>G c.2943A>G (p.Gly981=) c.2940A>G (p.Gly980=) c.1887A>G (p.Gly629=) c.2733A>G (p.Gly911=) c.2253A>G (p.Gly751=) | |
| 12 | g.47978693T>G | CA479696786 | COL2A1 | c.2592A>C (p.Gly864=) c.2799A>C (p.Gly933=) n.1885A>C c.2943A>C (p.Gly981=) c.2940A>C (p.Gly980=) c.1887A>C (p.Gly629=) c.2733A>C (p.Gly911=) c.2253A>C (p.Gly751=) | |
| 12 | g.47978694C>A | CA384542287 | COL2A1 | c.2591G>T (p.Gly864Val) c.2798G>T (p.Gly933Val) n.1884G>T c.2942G>T (p.Gly981Val) c.2939G>T (p.Gly980Val) c.1886G>T (p.Gly629Val) c.2732G>T (p.Gly911Val) c.2252G>T (p.Gly751Val) | |
| 12 | g.47978694C>G | CA384542286 | COL2A1 | c.2591G>C (p.Gly864Ala) c.2798G>C (p.Gly933Ala) n.1884G>C c.2942G>C (p.Gly981Ala) c.2939G>C (p.Gly980Ala) c.1886G>C (p.Gly629Ala) c.2732G>C (p.Gly911Ala) c.2252G>C (p.Gly751Ala) | |
| 12 | g.47978694C>T | CA384542284 | COL2A1 | c.2591G>A (p.Gly864Glu) c.2798G>A (p.Gly933Glu) n.1884G>A c.2942G>A (p.Gly981Glu) c.2939G>A (p.Gly980Glu) c.1886G>A (p.Gly629Glu) c.2732G>A (p.Gly911Glu) c.2252G>A (p.Gly751Glu) | ClinVar dbSNP |
| 12 | g.47978695C>A | CA384542288 | COL2A1 | c.2590G>T (p.Gly864Ter) c.2797G>T (p.Gly933Ter) n.1883G>T c.2941G>T (p.Gly981Ter) c.2938G>T (p.Gly980Ter) c.1885G>T (p.Gly629Ter) c.2731G>T (p.Gly911Ter) c.2251G>T (p.Gly751Ter) | |
| 12 | g.47978695C>G | CA384542289 | COL2A1 | c.2590G>C (p.Gly864Arg) c.2797G>C (p.Gly933Arg) n.1883G>C c.2941G>C (p.Gly981Arg) c.2938G>C (p.Gly980Arg) c.1885G>C (p.Gly629Arg) c.2731G>C (p.Gly911Arg) c.2251G>C (p.Gly751Arg) | |
| 12 | g.47978695C>T | CA384542291 | COL2A1 | c.2590G>A (p.Gly864Arg) c.2797G>A (p.Gly933Arg) n.1883G>A c.2941G>A (p.Gly981Arg) c.2938G>A (p.Gly980Arg) c.1885G>A (p.Gly629Arg) c.2731G>A (p.Gly911Arg) c.2251G>A (p.Gly751Arg) | |
| 12 | g.47978696T>A | CA479696787 | COL2A1 | c.2589A>T (p.Arg863=) c.2796A>T (p.Arg932=) n.1882A>T c.2940A>T (p.Arg980=) c.2937A>T (p.Arg979=) c.1884A>T (p.Arg628=) c.2730A>T (p.Arg910=) c.2250A>T (p.Arg750=) | |
| 12 | g.47978696T>C | CA479696788 | COL2A1 | c.2589A>G (p.Arg863=) c.2796A>G (p.Arg932=) n.1882A>G c.2940A>G (p.Arg980=) c.2937A>G (p.Arg979=) c.1884A>G (p.Arg628=) c.2730A>G (p.Arg910=) c.2250A>G (p.Arg750=) | gnomAD v4 |
| 12 | g.47978696T>G | CA479696789 | COL2A1 | c.2589A>C (p.Arg863=) c.2796A>C (p.Arg932=) n.1882A>C c.2940A>C (p.Arg980=) c.2937A>C (p.Arg979=) c.1884A>C (p.Arg628=) c.2730A>C (p.Arg910=) c.2250A>C (p.Arg750=) | |
| 12 | g.47978697C>A | CA384542293 | COL2A1 | c.2588G>T (p.Arg863Leu) c.2795G>T (p.Arg932Leu) n.1881G>T c.2939G>T (p.Arg980Leu) c.2936G>T (p.Arg979Leu) c.1883G>T (p.Arg628Leu) c.2729G>T (p.Arg910Leu) c.2249G>T (p.Arg750Leu) | |
| 12 | g.47978697C= | CA2034476998 | COL2A1 | c.2588G= (p.Arg863=) c.2795G= (p.Arg932=) n.1881G= c.2939G= (p.Arg980=) c.2936G= (p.Arg979=) c.1883G= (p.Arg628=) c.2729G= (p.Arg910=) c.2249G= (p.Arg750=) | |
| 12 | g.47978697C>G | CA384542296 | COL2A1 | c.2588G>C (p.Arg863Pro) c.2795G>C (p.Arg932Pro) n.1881G>C c.2939G>C (p.Arg980Pro) c.2936G>C (p.Arg979Pro) c.1883G>C (p.Arg628Pro) c.2729G>C (p.Arg910Pro) c.2249G>C (p.Arg750Pro) | |
| 12 | g.47978697C>T | CA6534979 | COL2A1 | c.2588G>A (p.Arg863Gln) c.2795G>A (p.Arg932Gln) n.1881G>A c.2939G>A (p.Arg980Gln) c.2936G>A (p.Arg979Gln) c.1883G>A (p.Arg628Gln) c.2729G>A (p.Arg910Gln) c.2249G>A (p.Arg750Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978698G>A | CA281739 | COL2A1 | c.2587C>T (p.Arg863Ter) c.2794C>T (p.Arg932Ter) n.1880C>T c.2938C>T (p.Arg980Ter) c.2935C>T (p.Arg979Ter) c.1882C>T (p.Arg628Ter) c.2728C>T (p.Arg910Ter) c.2248C>T (p.Arg750Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978698G>C | CA384542304 | COL2A1 | c.2587C>G (p.Arg863Gly) c.2794C>G (p.Arg932Gly) n.1880C>G c.2938C>G (p.Arg980Gly) c.2935C>G (p.Arg979Gly) c.1882C>G (p.Arg628Gly) c.2728C>G (p.Arg910Gly) c.2248C>G (p.Arg750Gly) | |
| 12 | g.47978698G= | CA2034476999 | COL2A1 | c.2587C= (p.Arg863=) c.2794C= (p.Arg932=) n.1880C= c.2938C= (p.Arg980=) c.2935C= (p.Arg979=) c.1882C= (p.Arg628=) c.2728C= (p.Arg910=) c.2248C= (p.Arg750=) | |
| 12 | g.47978698G>T | CA479696790 | COL2A1 | c.2587C>A (p.Arg863=) c.2794C>A (p.Arg932=) n.1880C>A c.2938C>A (p.Arg980=) c.2935C>A (p.Arg979=) c.1882C>A (p.Arg628=) c.2728C>A (p.Arg910=) c.2248C>A (p.Arg750=) |