Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47995902_47995910del | CA2618516297 | COL2A1 | c.419_427del (p.Arg140_Pro142del) c.626_634del (p.Arg209_Pro211del) c.770_778del (p.Arg257_Pro259del) c.767_775del (p.Arg256_Pro258del) c.560_568del (p.Arg187_Pro189del) c.80_88del (p.Arg27_Pro29del) | gnomAD v4 |
12 | g.47995904G>A | CA281742 | COL2A1 | c.418C>T (p.Arg140Ter) c.625C>T (p.Arg209Ter) c.769C>T (p.Arg257Ter) c.766C>T (p.Arg256Ter) c.559C>T (p.Arg187Ter) c.79C>T (p.Arg27Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.47995904G>C | CA384523932 | COL2A1 | c.418C>G (p.Arg140Gly) c.625C>G (p.Arg209Gly) c.769C>G (p.Arg257Gly) c.766C>G (p.Arg256Gly) c.559C>G (p.Arg187Gly) c.79C>G (p.Arg27Gly) | |
12 | g.47995904G= | CA2034479701 | COL2A1 | c.418C= (p.Arg140=) c.625C= (p.Arg209=) c.769C= (p.Arg257=) c.766C= (p.Arg256=) c.559C= (p.Arg187=) c.79C= (p.Arg27=) | |
12 | g.47995904G>T | CA479442099 | COL2A1 | c.418C>A (p.Arg140=) c.625C>A (p.Arg209=) c.769C>A (p.Arg257=) c.766C>A (p.Arg256=) c.559C>A (p.Arg187=) c.79C>A (p.Arg27=) | |
12 | g.47995905A>C | CA479442100 | COL2A1 | c.417T>G (p.Pro139=) c.624T>G (p.Pro208=) c.768T>G (p.Pro256=) c.765T>G (p.Pro255=) c.558T>G (p.Pro186=) c.78T>G (p.Pro26=) | |
12 | g.47995905A>G | CA479442101 | COL2A1 | c.417T>C (p.Pro139=) c.624T>C (p.Pro208=) c.768T>C (p.Pro256=) c.765T>C (p.Pro255=) c.558T>C (p.Pro186=) c.78T>C (p.Pro26=) | gnomAD v4 |
12 | g.47995905A>T | CA479442102 | COL2A1 | c.417T>A (p.Pro139=) c.624T>A (p.Pro208=) c.768T>A (p.Pro256=) c.765T>A (p.Pro255=) c.558T>A (p.Pro186=) c.78T>A (p.Pro26=) | |
12 | g.47995906G>A | CA236491744 | COL2A1 | c.416C>T (p.Pro139Leu) c.623C>T (p.Pro208Leu) c.767C>T (p.Pro256Leu) c.764C>T (p.Pro255Leu) c.557C>T (p.Pro186Leu) c.77C>T (p.Pro26Leu) | ClinVar dbSNP gnomAD v4 |
12 | g.47995906G>C | CA384523936 | COL2A1 | c.416C>G (p.Pro139Arg) c.623C>G (p.Pro208Arg) c.767C>G (p.Pro256Arg) c.764C>G (p.Pro255Arg) c.557C>G (p.Pro186Arg) c.77C>G (p.Pro26Arg) | |
12 | g.47995906G= | CA2034479707 | COL2A1 | c.416C= (p.Pro139=) c.623C= (p.Pro208=) c.767C= (p.Pro256=) c.764C= (p.Pro255=) c.557C= (p.Pro186=) c.77C= (p.Pro26=) | |
12 | g.47995906G>T | CA384523934 | COL2A1 | c.416C>A (p.Pro139His) c.623C>A (p.Pro208His) c.767C>A (p.Pro256His) c.764C>A (p.Pro255His) c.557C>A (p.Pro186His) c.77C>A (p.Pro26His) | |
12 | g.47995907G>A | CA384523939 | COL2A1 | c.415C>T (p.Pro139Ser) c.622C>T (p.Pro208Ser) c.766C>T (p.Pro256Ser) c.763C>T (p.Pro255Ser) c.556C>T (p.Pro186Ser) c.76C>T (p.Pro26Ser) | ClinVar gnomAD v4 |
12 | g.47995907G>C | CA384523941 | COL2A1 | c.415C>G (p.Pro139Ala) c.622C>G (p.Pro208Ala) c.766C>G (p.Pro256Ala) c.763C>G (p.Pro255Ala) c.556C>G (p.Pro186Ala) c.76C>G (p.Pro26Ala) | |
12 | g.47995907G>T | CA384523943 | COL2A1 | c.415C>A (p.Pro139Thr) c.622C>A (p.Pro208Thr) c.766C>A (p.Pro256Thr) c.763C>A (p.Pro255Thr) c.556C>A (p.Pro186Thr) c.76C>A (p.Pro26Thr) | |
12 | g.47995908T>A | CA479442103 | COL2A1 | c.414A>T (p.Gly138=) c.621A>T (p.Gly207=) c.765A>T (p.Gly255=) c.762A>T (p.Gly254=) c.555A>T (p.Gly185=) c.75A>T (p.Gly25=) | |
12 | g.47995908T>C | CA479442104 | COL2A1 | c.414A>G (p.Gly138=) c.621A>G (p.Gly207=) c.765A>G (p.Gly255=) c.762A>G (p.Gly254=) c.555A>G (p.Gly185=) c.75A>G (p.Gly25=) | |
12 | g.47995908T>G | CA479442105 | COL2A1 | c.414A>C (p.Gly138=) c.621A>C (p.Gly207=) c.765A>C (p.Gly255=) c.762A>C (p.Gly254=) c.555A>C (p.Gly185=) c.75A>C (p.Gly25=) | |
12 | g.47995909C>A | CA384523945 | COL2A1 | c.413G>T (p.Gly138Val) c.620G>T (p.Gly207Val) c.764G>T (p.Gly255Val) c.761G>T (p.Gly254Val) c.554G>T (p.Gly185Val) c.74G>T (p.Gly25Val) | ClinVar dbSNP |
12 | g.47995909C>G | CA384523947 | COL2A1 | c.413G>C (p.Gly138Ala) c.620G>C (p.Gly207Ala) c.764G>C (p.Gly255Ala) c.761G>C (p.Gly254Ala) c.554G>C (p.Gly185Ala) c.74G>C (p.Gly25Ala) | |
12 | g.47995909C>T | CA384523948 | COL2A1 | c.413G>A (p.Gly138Glu) c.620G>A (p.Gly207Glu) c.764G>A (p.Gly255Glu) c.761G>A (p.Gly254Glu) c.554G>A (p.Gly185Glu) c.74G>A (p.Gly25Glu) | COSMIC COSMIC |
12 | g.47995910C>A | CA384523952 | COL2A1 | c.412G>T (p.Gly138Ter) c.619G>T (p.Gly207Ter) c.763G>T (p.Gly255Ter) c.760G>T (p.Gly254Ter) c.553G>T (p.Gly185Ter) c.73G>T (p.Gly25Ter) | |
12 | g.47995910C= | CA2034479714 | COL2A1 | c.412G= (p.Gly138=) c.619G= (p.Gly207=) c.763G= (p.Gly255=) c.760G= (p.Gly254=) c.553G= (p.Gly185=) c.73G= (p.Gly25=) | |
12 | g.47995910C>G | CA384523950 | COL2A1 | c.412G>C (p.Gly138Arg) c.619G>C (p.Gly207Arg) c.763G>C (p.Gly255Arg) c.760G>C (p.Gly254Arg) c.553G>C (p.Gly185Arg) c.73G>C (p.Gly25Arg) | ClinVar dbSNP |
12 | g.47995910C>T | CA357206 | COL2A1 | c.412G>A (p.Gly138Arg) c.619G>A (p.Gly207Arg) c.763G>A (p.Gly255Arg) c.760G>A (p.Gly254Arg) c.553G>A (p.Gly185Arg) c.73G>A (p.Gly25Arg) | ClinVar dbSNP |
12 | g.47995911C>A | CA384523953 | COL2A1 | c.411G>T (p.Met137Ile) c.618G>T (p.Met206Ile) c.762G>T (p.Met254Ile) c.759G>T (p.Met253Ile) c.552G>T (p.Met184Ile) c.72G>T (p.Met24Ile) | |
12 | g.47995911C>G | CA384523955 | COL2A1 | c.411G>C (p.Met137Ile) c.618G>C (p.Met206Ile) c.762G>C (p.Met254Ile) c.759G>C (p.Met253Ile) c.552G>C (p.Met184Ile) c.72G>C (p.Met24Ile) | |
12 | g.47995911C>T | CA384523957 | COL2A1 | c.411G>A (p.Met137Ile) c.618G>A (p.Met206Ile) c.762G>A (p.Met254Ile) c.759G>A (p.Met253Ile) c.552G>A (p.Met184Ile) c.72G>A (p.Met24Ile) | ClinVar |
12 | g.47995912A= | CA2034479719 | COL2A1 | c.410T= (p.Met137=) c.617T= (p.Met206=) c.761T= (p.Met254=) c.758T= (p.Met253=) c.551T= (p.Met184=) c.71T= (p.Met24=) | |
12 | g.47995912A>C | CA384523959 | COL2A1 | c.410T>G (p.Met137Arg) c.617T>G (p.Met206Arg) c.761T>G (p.Met254Arg) c.758T>G (p.Met253Arg) c.551T>G (p.Met184Arg) c.71T>G (p.Met24Arg) | |
12 | g.47995912A>G | CA384523961 | COL2A1 | c.410T>C (p.Met137Thr) c.617T>C (p.Met206Thr) c.761T>C (p.Met254Thr) c.758T>C (p.Met253Thr) c.551T>C (p.Met184Thr) c.71T>C (p.Met24Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47995912A>T | CA384523963 | COL2A1 | c.410T>A (p.Met137Lys) c.617T>A (p.Met206Lys) c.761T>A (p.Met254Lys) c.758T>A (p.Met253Lys) c.551T>A (p.Met184Lys) c.71T>A (p.Met24Lys) | |
12 | g.47995915_47995939del | CA2499221684 | COL2A1 | c.403-17_410del c.610-17_617del c.754-17_761del c.751-17_758del c.544-17_551del c.64-17_71del | ClinVar dbSNP |
12 | g.47995913T>A | CA384523965 | COL2A1 | c.409A>T (p.Met137Leu) c.616A>T (p.Met206Leu) c.760A>T (p.Met254Leu) c.757A>T (p.Met253Leu) c.550A>T (p.Met184Leu) c.70A>T (p.Met24Leu) | |
12 | g.47995913T>C | CA384523967 | COL2A1 | c.409A>G (p.Met137Val) c.616A>G (p.Met206Val) c.760A>G (p.Met254Val) c.757A>G (p.Met253Val) c.550A>G (p.Met184Val) c.70A>G (p.Met24Val) | |
12 | g.47995913T>G | CA384523969 | COL2A1 | c.409A>C (p.Met137Leu) c.616A>C (p.Met206Leu) c.760A>C (p.Met254Leu) c.757A>C (p.Met253Leu) c.550A>C (p.Met184Leu) c.70A>C (p.Met24Leu) | |
12 | g.47995914G>A | CA479442106 | COL2A1 | c.408C>T (p.Pro136=) c.615C>T (p.Pro205=) c.759C>T (p.Pro253=) c.756C>T (p.Pro252=) c.549C>T (p.Pro183=) c.69C>T (p.Pro23=) | |
12 | g.47995914G>C | CA479442109 | COL2A1 | c.408C>G (p.Pro136=) c.615C>G (p.Pro205=) c.759C>G (p.Pro253=) c.756C>G (p.Pro252=) c.549C>G (p.Pro183=) c.69C>G (p.Pro23=) | |
12 | g.47995914G>T | CA479442107 | COL2A1 | c.408C>A (p.Pro136=) c.615C>A (p.Pro205=) c.759C>A (p.Pro253=) c.756C>A (p.Pro252=) c.549C>A (p.Pro183=) c.69C>A (p.Pro23=) | |
12 | g.47995915G>A | CA384523970 | COL2A1 | c.407C>T (p.Pro136Leu) c.614C>T (p.Pro205Leu) c.758C>T (p.Pro253Leu) c.755C>T (p.Pro252Leu) c.548C>T (p.Pro183Leu) c.68C>T (p.Pro23Leu) | gnomAD v4 |
12 | g.47995915G>C | CA384523971 | COL2A1 | c.407C>G (p.Pro136Arg) c.614C>G (p.Pro205Arg) c.758C>G (p.Pro253Arg) c.755C>G (p.Pro252Arg) c.548C>G (p.Pro183Arg) c.68C>G (p.Pro23Arg) | gnomAD v4 |
12 | g.47995915G>T | CA384523973 | COL2A1 | c.407C>A (p.Pro136His) c.614C>A (p.Pro205His) c.758C>A (p.Pro253His) c.755C>A (p.Pro252His) c.548C>A (p.Pro183His) c.68C>A (p.Pro23His) | |
12 | g.47995916G>A | CA384523975 | COL2A1 | c.406C>T (p.Pro136Ser) c.613C>T (p.Pro205Ser) c.757C>T (p.Pro253Ser) c.754C>T (p.Pro252Ser) c.547C>T (p.Pro183Ser) c.67C>T (p.Pro23Ser) | COSMIC COSMIC |
12 | g.47995916G>C | CA384523978 | COL2A1 | c.406C>G (p.Pro136Ala) c.613C>G (p.Pro205Ala) c.757C>G (p.Pro253Ala) c.754C>G (p.Pro252Ala) c.547C>G (p.Pro183Ala) c.67C>G (p.Pro23Ala) | |
12 | g.47995916G>T | CA384523977 | COL2A1 | c.406C>A (p.Pro136Thr) c.613C>A (p.Pro205Thr) c.757C>A (p.Pro253Thr) c.754C>A (p.Pro252Thr) c.547C>A (p.Pro183Thr) c.67C>A (p.Pro23Thr) | gnomAD v4 |
12 | g.47995917G>A | CA479442110 | COL2A1 | c.405C>T (p.Gly135=) c.612C>T (p.Gly204=) c.756C>T (p.Gly252=) c.753C>T (p.Gly251=) c.546C>T (p.Gly182=) c.66C>T (p.Gly22=) | gnomAD v4 |
12 | g.47995917G>C | CA479442111 | COL2A1 | c.405C>G (p.Gly135=) c.612C>G (p.Gly204=) c.756C>G (p.Gly252=) c.753C>G (p.Gly251=) c.546C>G (p.Gly182=) c.66C>G (p.Gly22=) | |
12 | g.47995917G>T | CA479442112 | COL2A1 | c.405C>A (p.Gly135=) c.612C>A (p.Gly204=) c.756C>A (p.Gly252=) c.753C>A (p.Gly251=) c.546C>A (p.Gly182=) c.66C>A (p.Gly22=) | gnomAD v4 |
12 | g.47995918C>A | CA384523981 | COL2A1 | c.404G>T (p.Gly135Val) c.611G>T (p.Gly204Val) c.755G>T (p.Gly252Val) c.752G>T (p.Gly251Val) c.545G>T (p.Gly182Val) c.65G>T (p.Gly22Val) | |
12 | g.47995918C>G | CA384523983 | COL2A1 | c.404G>C (p.Gly135Ala) c.611G>C (p.Gly204Ala) c.755G>C (p.Gly252Ala) c.752G>C (p.Gly251Ala) c.545G>C (p.Gly182Ala) c.65G>C (p.Gly22Ala) |