Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47995902_47995910delCA2618516297COL2A1c.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
12g.47995904G>ACA281742COL2A1c.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
12g.47995904G>CCA384523932COL2A1c.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)
12g.47995904G=CA2034479701COL2A1c.418C= (p.Arg140=)
c.625C= (p.Arg209=)
c.769C= (p.Arg257=)
c.766C= (p.Arg256=)
c.559C= (p.Arg187=)
c.79C= (p.Arg27=)
12g.47995904G>TCA479442099COL2A1c.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=)
12g.47995905A>CCA479442100COL2A1c.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=)
12g.47995905A>GCA479442101COL2A1c.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
12g.47995905A>TCA479442102COL2A1c.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=)
12g.47995906G>ACA236491744COL2A1c.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
12g.47995906G>CCA384523936COL2A1c.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)
12g.47995906G=CA2034479707COL2A1c.416C= (p.Pro139=)
c.623C= (p.Pro208=)
c.767C= (p.Pro256=)
c.764C= (p.Pro255=)
c.557C= (p.Pro186=)
c.77C= (p.Pro26=)
12g.47995906G>TCA384523934COL2A1c.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)
12g.47995907G>ACA384523939COL2A1c.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
12g.47995907G>CCA384523941COL2A1c.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)
12g.47995907G>TCA384523943COL2A1c.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)
12g.47995908T>ACA479442103COL2A1c.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=)
12g.47995908T>CCA479442104COL2A1c.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=)
12g.47995908T>GCA479442105COL2A1c.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=)
12g.47995909C>ACA384523945COL2A1c.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
12g.47995909C>GCA384523947COL2A1c.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)
12g.47995909C>TCA384523948COL2A1c.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
12g.47995910C>ACA384523952COL2A1c.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)
12g.47995910C=CA2034479714COL2A1c.412G= (p.Gly138=)
c.619G= (p.Gly207=)
c.763G= (p.Gly255=)
c.760G= (p.Gly254=)
c.553G= (p.Gly185=)
c.73G= (p.Gly25=)
12g.47995910C>GCA384523950COL2A1c.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
12g.47995910C>TCA357206COL2A1c.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
12g.47995911C>ACA384523953COL2A1c.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)
12g.47995911C>GCA384523955COL2A1c.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)
12g.47995911C>TCA384523957COL2A1c.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
12g.47995912A=CA2034479719COL2A1c.410T= (p.Met137=)
c.617T= (p.Met206=)
c.761T= (p.Met254=)
c.758T= (p.Met253=)
c.551T= (p.Met184=)
c.71T= (p.Met24=)
12g.47995912A>CCA384523959COL2A1c.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)
12g.47995912A>GCA384523961COL2A1c.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
12g.47995912A>TCA384523963COL2A1c.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)
12g.47995915_47995939delCA2499221684COL2A1c.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
12g.47995913T>ACA384523965COL2A1c.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)
12g.47995913T>CCA384523967COL2A1c.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)
12g.47995913T>GCA384523969COL2A1c.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)
12g.47995914G>ACA479442106COL2A1c.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=)
12g.47995914G>CCA479442109COL2A1c.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=)
12g.47995914G>TCA479442107COL2A1c.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=)
12g.47995915G>ACA384523970COL2A1c.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
12g.47995915G>CCA384523971COL2A1c.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
12g.47995915G>TCA384523973COL2A1c.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)
12g.47995916G>ACA384523975COL2A1c.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
12g.47995916G>CCA384523978COL2A1c.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)
12g.47995916G>TCA384523977COL2A1c.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
12g.47995917G>ACA479442110COL2A1c.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
12g.47995917G>CCA479442111COL2A1c.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=)
12g.47995917G>TCA479442112COL2A1c.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
12g.47995918C>ACA384523981COL2A1c.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)
12g.47995918C>GCA384523983COL2A1c.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)

Number of alleles fetched