Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47995894G>A | CA384523891 | COL2A1 | c.428C>T (p.Pro143Leu) c.635C>T (p.Pro212Leu) c.779C>T (p.Pro260Leu) c.776C>T (p.Pro259Leu) c.569C>T (p.Pro190Leu) c.89C>T (p.Pro30Leu) | gnomAD v4 |
12 | g.47995894G>C | CA384523892 | COL2A1 | c.428C>G (p.Pro143Arg) c.635C>G (p.Pro212Arg) c.779C>G (p.Pro260Arg) c.776C>G (p.Pro259Arg) c.569C>G (p.Pro190Arg) c.89C>G (p.Pro30Arg) | gnomAD v4 |
12 | g.47995894G>T | CA384523894 | COL2A1 | c.428C>A (p.Pro143Gln) c.635C>A (p.Pro212Gln) c.779C>A (p.Pro260Gln) c.776C>A (p.Pro259Gln) c.569C>A (p.Pro190Gln) c.89C>A (p.Pro30Gln) | |
12 | g.47995895dup | CA1139662598 | COL2A1 | c.428dup (p.Gly144ArgfsTer17) c.635dup (p.Gly213ArgfsTer17) c.779dup (p.Gly261ArgfsTer17) c.776dup (p.Gly260ArgfsTer17) c.569dup (p.Gly191ArgfsTer17) c.89dup (p.Gly31ArgfsTer17) | ClinVar dbSNP |
12 | g.47995895G>A | CA384523896 | COL2A1 | c.427C>T (p.Pro143Ser) c.634C>T (p.Pro212Ser) c.778C>T (p.Pro260Ser) c.775C>T (p.Pro259Ser) c.568C>T (p.Pro190Ser) c.88C>T (p.Pro30Ser) | |
12 | g.47995895G>C | CA384523898 | COL2A1 | c.427C>G (p.Pro143Ala) c.634C>G (p.Pro212Ala) c.778C>G (p.Pro260Ala) c.775C>G (p.Pro259Ala) c.568C>G (p.Pro190Ala) c.88C>G (p.Pro30Ala) | gnomAD v4 |
12 | g.47995895G>T | CA384523900 | COL2A1 | c.427C>A (p.Pro143Thr) c.634C>A (p.Pro212Thr) c.778C>A (p.Pro260Thr) c.775C>A (p.Pro259Thr) c.568C>A (p.Pro190Thr) c.88C>A (p.Pro30Thr) | |
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.47995896A>C | CA479442090 | COL2A1 | c.426T>G (p.Pro142=) c.633T>G (p.Pro211=) c.777T>G (p.Pro259=) c.774T>G (p.Pro258=) c.567T>G (p.Pro189=) c.87T>G (p.Pro29=) | |
12 | g.47995896A>G | CA479442091 | COL2A1 | c.426T>C (p.Pro142=) c.633T>C (p.Pro211=) c.777T>C (p.Pro259=) c.774T>C (p.Pro258=) c.567T>C (p.Pro189=) c.87T>C (p.Pro29=) | |
12 | g.47995896A>T | CA479442092 | COL2A1 | c.426T>A (p.Pro142=) c.633T>A (p.Pro211=) c.777T>A (p.Pro259=) c.774T>A (p.Pro258=) c.567T>A (p.Pro189=) c.87T>A (p.Pro29=) | |
12 | g.47995897G>A | CA384523902 | COL2A1 | c.425C>T (p.Pro142Leu) c.632C>T (p.Pro211Leu) c.776C>T (p.Pro259Leu) c.773C>T (p.Pro258Leu) c.566C>T (p.Pro189Leu) c.86C>T (p.Pro29Leu) | |
12 | g.47995897G>C | CA384523903 | COL2A1 | c.425C>G (p.Pro142Arg) c.632C>G (p.Pro211Arg) c.776C>G (p.Pro259Arg) c.773C>G (p.Pro258Arg) c.566C>G (p.Pro189Arg) c.86C>G (p.Pro29Arg) | |
12 | g.47995897G>T | CA384523905 | COL2A1 | c.425C>A (p.Pro142His) c.632C>A (p.Pro211His) c.776C>A (p.Pro259His) c.773C>A (p.Pro258His) c.566C>A (p.Pro189His) c.86C>A (p.Pro29His) | |
12 | g.47995898G>A | CA384523909 | COL2A1 | c.424C>T (p.Pro142Ser) c.631C>T (p.Pro211Ser) c.775C>T (p.Pro259Ser) c.772C>T (p.Pro258Ser) c.565C>T (p.Pro189Ser) c.85C>T (p.Pro29Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.47995898G>C | CA384523911 | COL2A1 | c.424C>G (p.Pro142Ala) c.631C>G (p.Pro211Ala) c.775C>G (p.Pro259Ala) c.772C>G (p.Pro258Ala) c.565C>G (p.Pro189Ala) c.85C>G (p.Pro29Ala) | |
12 | g.47995898G= | CA2034479693 | COL2A1 | c.424C= (p.Pro142=) c.631C= (p.Pro211=) c.775C= (p.Pro259=) c.772C= (p.Pro258=) c.565C= (p.Pro189=) c.85C= (p.Pro29=) | |
12 | g.47995898G>T | CA384523908 | COL2A1 | c.424C>A (p.Pro142Thr) c.631C>A (p.Pro211Thr) c.775C>A (p.Pro259Thr) c.772C>A (p.Pro258Thr) c.565C>A (p.Pro189Thr) c.85C>A (p.Pro29Thr) | |
12 | g.47995899T>A | CA479442093 | COL2A1 | c.423A>T (p.Gly141=) c.630A>T (p.Gly210=) c.774A>T (p.Gly258=) c.771A>T (p.Gly257=) c.564A>T (p.Gly188=) c.84A>T (p.Gly28=) | |
12 | g.47995899T>C | CA479442094 | COL2A1 | c.423A>G (p.Gly141=) c.630A>G (p.Gly210=) c.774A>G (p.Gly258=) c.771A>G (p.Gly257=) c.564A>G (p.Gly188=) c.84A>G (p.Gly28=) | |
12 | g.47995899T>G | CA479442095 | COL2A1 | c.423A>C (p.Gly141=) c.630A>C (p.Gly210=) c.774A>C (p.Gly258=) c.771A>C (p.Gly257=) c.564A>C (p.Gly188=) c.84A>C (p.Gly28=) | |
12 | g.47995900C>A | CA384523915 | COL2A1 | c.422G>T (p.Gly141Val) c.629G>T (p.Gly210Val) c.773G>T (p.Gly258Val) c.770G>T (p.Gly257Val) c.563G>T (p.Gly188Val) c.83G>T (p.Gly28Val) | |
12 | g.47995900C>G | CA384523913 | COL2A1 | c.422G>C (p.Gly141Ala) c.629G>C (p.Gly210Ala) c.773G>C (p.Gly258Ala) c.770G>C (p.Gly257Ala) c.563G>C (p.Gly188Ala) c.83G>C (p.Gly28Ala) | |
12 | g.47995900C>T | CA384523917 | COL2A1 | c.422G>A (p.Gly141Glu) c.629G>A (p.Gly210Glu) c.773G>A (p.Gly258Glu) c.770G>A (p.Gly257Glu) c.563G>A (p.Gly188Glu) c.83G>A (p.Gly28Glu) | |
12 | g.47995901C>A | CA384523919 | COL2A1 | c.421G>T (p.Gly141Ter) c.628G>T (p.Gly210Ter) c.772G>T (p.Gly258Ter) c.769G>T (p.Gly257Ter) c.562G>T (p.Gly188Ter) c.82G>T (p.Gly28Ter) | |
12 | g.47995901C>G | CA384523923 | COL2A1 | c.421G>C (p.Gly141Arg) c.628G>C (p.Gly210Arg) c.772G>C (p.Gly258Arg) c.769G>C (p.Gly257Arg) c.562G>C (p.Gly188Arg) c.82G>C (p.Gly28Arg) | |
12 | g.47995901C>T | CA384523921 | COL2A1 | c.421G>A (p.Gly141Arg) c.628G>A (p.Gly210Arg) c.772G>A (p.Gly258Arg) c.769G>A (p.Gly257Arg) c.562G>A (p.Gly188Arg) c.82G>A (p.Gly28Arg) | ClinVar |
12 | g.47995902T>A | CA479442096 | COL2A1 | c.420A>T (p.Arg140=) c.627A>T (p.Arg209=) c.771A>T (p.Arg257=) c.768A>T (p.Arg256=) c.561A>T (p.Arg187=) c.81A>T (p.Arg27=) | |
12 | g.47995902T>C | CA479442098 | COL2A1 | c.420A>G (p.Arg140=) c.627A>G (p.Arg209=) c.771A>G (p.Arg257=) c.768A>G (p.Arg256=) c.561A>G (p.Arg187=) c.81A>G (p.Arg27=) | ClinVar |
12 | g.47995902T>G | CA479442097 | COL2A1 | c.420A>C (p.Arg140=) c.627A>C (p.Arg209=) c.771A>C (p.Arg257=) c.768A>C (p.Arg256=) c.561A>C (p.Arg187=) c.81A>C (p.Arg27=) | |
12 | g.47995903C>A | CA384523925 | COL2A1 | c.419G>T (p.Arg140Leu) c.626G>T (p.Arg209Leu) c.770G>T (p.Arg257Leu) c.767G>T (p.Arg256Leu) c.560G>T (p.Arg187Leu) c.80G>T (p.Arg27Leu) | |
12 | g.47995903C>G | CA384523927 | COL2A1 | c.419G>C (p.Arg140Pro) c.626G>C (p.Arg209Pro) c.770G>C (p.Arg257Pro) c.767G>C (p.Arg256Pro) c.560G>C (p.Arg187Pro) c.80G>C (p.Arg27Pro) | |
12 | g.47995903C>T | CA384523929 | COL2A1 | c.419G>A (p.Arg140Gln) c.626G>A (p.Arg209Gln) c.770G>A (p.Arg257Gln) c.767G>A (p.Arg256Gln) c.560G>A (p.Arg187Gln) c.80G>A (p.Arg27Gln) | ClinVar dbSNP 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=) |