Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47977285_47977292delinsGGGAAGGC | CA2034476357 | COL2A1 | c.3066+28_3066+35delinsGCCTTCCC (n.3066+28_3066+35delinsGCCTTCCC) c.3273+28_3273+35delinsGCCTTCCC (n.3273+28_3273+35delinsGCCTTCCC) n.2359+28_2359+35delinsGCCTTCCC n.126+28_126+35delinsGCCTTCCC c.3417+28_3417+35delinsGCCTTCCC (n.3417+28_3417+35delinsGCCTTCCC) c.3414+28_3414+35delinsGCCTTCCC (n.3414+28_3414+35delinsGCCTTCCC) c.2361+28_2361+35delinsGCCTTCCC (n.2361+28_2361+35delinsGCCTTCCC) c.3207+28_3207+35delinsGCCTTCCC (n.3207+28_3207+35delinsGCCTTCCC) c.2727+28_2727+35delinsGCCTTCCC (n.2727+28_2727+35delinsGCCTTCCC) | |
12 | g.47977288_47977294del | CA689436568 | COL2A1 | c.3066+28_3066+34del (n.3066+28_3066+34del) c.3273+28_3273+34del (n.3273+28_3273+34del) n.2359+28_2359+34del n.126+28_126+34del c.3417+28_3417+34del (n.3417+28_3417+34del) c.3414+28_3414+34del (n.3414+28_3414+34del) c.2361+28_2361+34del (n.2361+28_2361+34del) c.3207+28_3207+34del (n.3207+28_3207+34del) c.2727+28_2727+34del (n.2727+28_2727+34del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47977292C>A | CA2575137852 | COL2A1 | c.3066+28G>T (n.3066+28G>T) c.3273+28G>T (n.3273+28G>T) n.2359+28G>T n.126+28G>T c.3417+28G>T (n.3417+28G>T) c.3414+28G>T (n.3414+28G>T) c.2361+28G>T (n.2361+28G>T) c.3207+28G>T (n.3207+28G>T) c.2727+28G>T (n.2727+28G>T) | gnomAD v4 |
12 | g.47977292C= | CA2034476363 | COL2A1 | c.3066+28G= (n.3066+28G=) c.3273+28G= (n.3273+28G=) n.2359+28G= n.126+28G= c.3417+28G= (n.3417+28G=) c.3414+28G= (n.3414+28G=) c.2361+28G= (n.2361+28G=) c.3207+28G= (n.3207+28G=) c.2727+28G= (n.2727+28G=) | |
12 | g.47977292C>T | CA6534823 | COL2A1 | c.3066+28G>A (n.3066+28G>A) c.3273+28G>A (n.3273+28G>A) n.2359+28G>A n.126+28G>A c.3417+28G>A (n.3417+28G>A) c.3414+28G>A (n.3414+28G>A) c.2361+28G>A (n.2361+28G>A) c.3207+28G>A (n.3207+28G>A) c.2727+28G>A (n.2727+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47977293G>A | CA6534825 | COL2A1 | c.3066+27C>T (n.3066+27C>T) c.3273+27C>T (n.3273+27C>T) n.2359+27C>T n.126+27C>T c.3417+27C>T (n.3417+27C>T) c.3414+27C>T (n.3414+27C>T) c.2361+27C>T (n.2361+27C>T) c.3207+27C>T (n.3207+27C>T) c.2727+27C>T (n.2727+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.47977293G>C | CA6534824 | COL2A1 | c.3066+27C>G (n.3066+27C>G) c.3273+27C>G (n.3273+27C>G) n.2359+27C>G n.126+27C>G c.3417+27C>G (n.3417+27C>G) c.3414+27C>G (n.3414+27C>G) c.2361+27C>G (n.2361+27C>G) c.3207+27C>G (n.3207+27C>G) c.2727+27C>G (n.2727+27C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977293G= | CA2034476364 | COL2A1 | c.3066+27C= (n.3066+27C=) c.3273+27C= (n.3273+27C=) n.2359+27C= n.126+27C= c.3417+27C= (n.3417+27C=) c.3414+27C= (n.3414+27C=) c.2361+27C= (n.2361+27C=) c.3207+27C= (n.3207+27C=) c.2727+27C= (n.2727+27C=) | |
12 | g.47977294G>C | CA2618511635 | COL2A1 | c.3066+26C>G (n.3066+26C>G) c.3273+26C>G (n.3273+26C>G) n.2359+26C>G n.126+26C>G c.3417+26C>G (n.3417+26C>G) c.3414+26C>G (n.3414+26C>G) c.2361+26C>G (n.2361+26C>G) c.3207+26C>G (n.3207+26C>G) c.2727+26C>G (n.2727+26C>G) | gnomAD v4 |
12 | g.47977294G>T | CA2575137853 | COL2A1 | c.3066+26C>A (n.3066+26C>A) c.3273+26C>A (n.3273+26C>A) n.2359+26C>A n.126+26C>A c.3417+26C>A (n.3417+26C>A) c.3414+26C>A (n.3414+26C>A) c.2361+26C>A (n.2361+26C>A) c.3207+26C>A (n.3207+26C>A) c.2727+26C>A (n.2727+26C>A) | |
12 | g.47977296T>C | CA2618511637 | COL2A1 | c.3066+24A>G (n.3066+24A>G) c.3273+24A>G (n.3273+24A>G) n.2359+24A>G n.126+24A>G c.3417+24A>G (n.3417+24A>G) c.3414+24A>G (n.3414+24A>G) c.2361+24A>G (n.2361+24A>G) c.3207+24A>G (n.3207+24A>G) c.2727+24A>G (n.2727+24A>G) | gnomAD v4 |
12 | g.47977298_47977299insA | CA2795864008 | COL2A1 | c.3066+21_3066+22insT (n.3066+21_3066+22insT) c.3273+21_3273+22insT (n.3273+21_3273+22insT) n.2359+21_2359+22insT n.126+21_126+22insT c.3417+21_3417+22insT (n.3417+21_3417+22insT) c.3414+21_3414+22insT (n.3414+21_3414+22insT) c.2361+21_2361+22insT (n.2361+21_2361+22insT) c.3207+21_3207+22insT (n.3207+21_3207+22insT) c.2727+21_2727+22insT (n.2727+21_2727+22insT) | |
12 | g.47977299T>G | CA2795864010 | COL2A1 | c.3066+21A>C (n.3066+21A>C) c.3273+21A>C (n.3273+21A>C) n.2359+21A>C n.126+21A>C c.3417+21A>C (n.3417+21A>C) c.3414+21A>C (n.3414+21A>C) c.2361+21A>C (n.2361+21A>C) c.3207+21A>C (n.3207+21A>C) c.2727+21A>C (n.2727+21A>C) | |
12 | g.47977299_47977300delinsTA | CA2034476365 | COL2A1 | c.3066+20_3066+21delinsTA (n.3066+20_3066+21delinsTA) c.3273+20_3273+21delinsTA (n.3273+20_3273+21delinsTA) n.2359+20_2359+21delinsTA n.126+20_126+21delinsTA c.3417+20_3417+21delinsTA (n.3417+20_3417+21delinsTA) c.3414+20_3414+21delinsTA (n.3414+20_3414+21delinsTA) c.2361+20_2361+21delinsTA (n.2361+20_2361+21delinsTA) c.3207+20_3207+21delinsTA (n.3207+20_3207+21delinsTA) c.2727+20_2727+21delinsTA (n.2727+20_2727+21delinsTA) | |
12 | g.47977300del | CA2034476366 | COL2A1 | c.3066+20del (n.3066+20del) c.3273+20del (n.3273+20del) n.2359+20del n.126+20del c.3417+20del (n.3417+20del) c.3414+20del (n.3414+20del) c.2361+20del (n.2361+20del) c.3207+20del (n.3207+20del) c.2727+20del (n.2727+20del) | ClinVar dbSNP gnomAD v4 |
12 | g.47977301C>A | CA2034476368 | COL2A1 | c.3066+19G>T (n.3066+19G>T) c.3273+19G>T (n.3273+19G>T) n.2359+19G>T n.126+19G>T c.3417+19G>T (n.3417+19G>T) c.3414+19G>T (n.3414+19G>T) c.2361+19G>T (n.2361+19G>T) c.3207+19G>T (n.3207+19G>T) c.2727+19G>T (n.2727+19G>T) | dbSNP gnomAD v4 |
12 | g.47977301C= | CA2034476367 | COL2A1 | c.3066+19G= (n.3066+19G=) c.3273+19G= (n.3273+19G=) n.2359+19G= n.126+19G= c.3417+19G= (n.3417+19G=) c.3414+19G= (n.3414+19G=) c.2361+19G= (n.2361+19G=) c.3207+19G= (n.3207+19G=) c.2727+19G= (n.2727+19G=) | |
12 | g.47977301C>T | CA2618511640 | COL2A1 | c.3066+19G>A (n.3066+19G>A) c.3273+19G>A (n.3273+19G>A) n.2359+19G>A n.126+19G>A c.3417+19G>A (n.3417+19G>A) c.3414+19G>A (n.3414+19G>A) c.2361+19G>A (n.2361+19G>A) c.3207+19G>A (n.3207+19G>A) c.2727+19G>A (n.2727+19G>A) | gnomAD v4 |
12 | g.47977303G= | CA2034476369 | COL2A1 | c.3066+17C= (n.3066+17C=) c.3273+17C= (n.3273+17C=) n.2359+17C= n.126+17C= c.3417+17C= (n.3417+17C=) c.3414+17C= (n.3414+17C=) c.2361+17C= (n.2361+17C=) c.3207+17C= (n.3207+17C=) c.2727+17C= (n.2727+17C=) | |
12 | g.47977303G>T | CA689436580 | COL2A1 | c.3066+17C>A (n.3066+17C>A) c.3273+17C>A (n.3273+17C>A) n.2359+17C>A n.126+17C>A c.3417+17C>A (n.3417+17C>A) c.3414+17C>A (n.3414+17C>A) c.2361+17C>A (n.2361+17C>A) c.3207+17C>A (n.3207+17C>A) c.2727+17C>A (n.2727+17C>A) | dbSNP gnomAD v4 |
12 | g.47977304A>C | CA2618511644 | COL2A1 | c.3066+16T>G (n.3066+16T>G) c.3273+16T>G (n.3273+16T>G) n.2359+16T>G n.126+16T>G c.3417+16T>G (n.3417+16T>G) c.3414+16T>G (n.3414+16T>G) c.2361+16T>G (n.2361+16T>G) c.3207+16T>G (n.3207+16T>G) c.2727+16T>G (n.2727+16T>G) | gnomAD v4 |
12 | g.47977307T>G | CA2596101527 | COL2A1 | c.3066+13A>C (n.3066+13A>C) c.3273+13A>C (n.3273+13A>C) n.2359+13A>C n.126+13A>C c.3417+13A>C (n.3417+13A>C) c.3414+13A>C (n.3414+13A>C) c.2361+13A>C (n.2361+13A>C) c.3207+13A>C (n.3207+13A>C) c.2727+13A>C (n.2727+13A>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47977308C= | CA2034476370 | COL2A1 | c.3066+12G= (n.3066+12G=) c.3273+12G= (n.3273+12G=) n.2359+12G= n.126+12G= c.3417+12G= (n.3417+12G=) c.3414+12G= (n.3414+12G=) c.2361+12G= (n.2361+12G=) c.3207+12G= (n.3207+12G=) c.2727+12G= (n.2727+12G=) | |
12 | g.47977308C>G | CA2034476371 | COL2A1 | c.3066+12G>C (n.3066+12G>C) c.3273+12G>C (n.3273+12G>C) n.2359+12G>C n.126+12G>C c.3417+12G>C (n.3417+12G>C) c.3414+12G>C (n.3414+12G>C) c.2361+12G>C (n.2361+12G>C) c.3207+12G>C (n.3207+12G>C) c.2727+12G>C (n.2727+12G>C) | dbSNP |
12 | g.47977308C>T | CA605231646 | COL2A1 | c.3066+12G>A (n.3066+12G>A) c.3273+12G>A (n.3273+12G>A) n.2359+12G>A n.126+12G>A c.3417+12G>A (n.3417+12G>A) c.3414+12G>A (n.3414+12G>A) c.2361+12G>A (n.2361+12G>A) c.3207+12G>A (n.3207+12G>A) c.2727+12G>A (n.2727+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977309A>G | CA2575137854 | COL2A1 | c.3066+11T>C (n.3066+11T>C) c.3273+11T>C (n.3273+11T>C) n.2359+11T>C n.126+11T>C c.3417+11T>C (n.3417+11T>C) c.3414+11T>C (n.3414+11T>C) c.2361+11T>C (n.2361+11T>C) c.3207+11T>C (n.3207+11T>C) c.2727+11T>C (n.2727+11T>C) | dbSNP gnomAD v4 |
12 | g.47977310G>A | CA2618511649 | COL2A1 | c.3066+10C>T (n.3066+10C>T) c.3273+10C>T (n.3273+10C>T) n.2359+10C>T n.126+10C>T c.3417+10C>T (n.3417+10C>T) c.3414+10C>T (n.3414+10C>T) c.2361+10C>T (n.2361+10C>T) c.3207+10C>T (n.3207+10C>T) c.2727+10C>T (n.2727+10C>T) | dbSNP gnomAD v4 |
12 | g.47977312A>T | CA2618511651 | COL2A1 | c.3066+8T>A (n.3066+8T>A) c.3273+8T>A (n.3273+8T>A) n.2359+8T>A n.126+8T>A c.3417+8T>A (n.3417+8T>A) c.3414+8T>A (n.3414+8T>A) c.2361+8T>A (n.2361+8T>A) c.3207+8T>A (n.3207+8T>A) c.2727+8T>A (n.2727+8T>A) | gnomAD v4 |
12 | g.47977315C= | CA2034476372 | COL2A1 | c.3066+5G= (n.3066+5G=) c.3273+5G= (n.3273+5G=) n.2359+5G= n.126+5G= c.3417+5G= (n.3417+5G=) c.3414+5G= (n.3414+5G=) c.2361+5G= (n.2361+5G=) c.3207+5G= (n.3207+5G=) c.2727+5G= (n.2727+5G=) | |
12 | g.47977315C>T | CA236520966 | COL2A1 | c.3066+5G>A (n.3066+5G>A) c.3273+5G>A (n.3273+5G>A) n.2359+5G>A n.126+5G>A c.3417+5G>A (n.3417+5G>A) c.3414+5G>A (n.3414+5G>A) c.2361+5G>A (n.2361+5G>A) c.3207+5G>A (n.3207+5G>A) c.2727+5G>A (n.2727+5G>A) | dbSNP gnomAD v4 |
12 | g.47977316T>A | CA6534826 | COL2A1 | c.3066+4A>T (n.3066+4A>T) c.3273+4A>T (n.3273+4A>T) n.2359+4A>T n.126+4A>T c.3417+4A>T (n.3417+4A>T) c.3414+4A>T (n.3414+4A>T) c.2361+4A>T (n.2361+4A>T) c.3207+4A>T (n.3207+4A>T) c.2727+4A>T (n.2727+4A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47977316T= | CA2034476373 | COL2A1 | c.3066+4A= (n.3066+4A=) c.3273+4A= (n.3273+4A=) n.2359+4A= n.126+4A= c.3417+4A= (n.3417+4A=) c.3414+4A= (n.3414+4A=) c.2361+4A= (n.2361+4A=) c.3207+4A= (n.3207+4A=) c.2727+4A= (n.2727+4A=) | |
12 | g.47977317T>G | CA2618511656 | COL2A1 | c.3066+3A>C (n.3066+3A>C) c.3273+3A>C (n.3273+3A>C) n.2359+3A>C n.126+3A>C c.3417+3A>C (n.3417+3A>C) c.3414+3A>C (n.3414+3A>C) c.2361+3A>C (n.2361+3A>C) c.3207+3A>C (n.3207+3A>C) c.2727+3A>C (n.2727+3A>C) | gnomAD v4 |
12 | g.47977318A>C | CA384539890 | COL2A1 | c.3066+2T>G (n.3066+2T>G) c.3273+2T>G (n.3273+2T>G) n.2359+2T>G n.126+2T>G c.3417+2T>G (n.3417+2T>G) c.3414+2T>G (n.3414+2T>G) c.2361+2T>G (n.2361+2T>G) c.3207+2T>G (n.3207+2T>G) c.2727+2T>G (n.2727+2T>G) | |
12 | g.47977318A>G | CA384539888 | COL2A1 | c.3066+2T>C (n.3066+2T>C) c.3273+2T>C (n.3273+2T>C) n.2359+2T>C n.126+2T>C c.3417+2T>C (n.3417+2T>C) c.3414+2T>C (n.3414+2T>C) c.2361+2T>C (n.2361+2T>C) c.3207+2T>C (n.3207+2T>C) c.2727+2T>C (n.2727+2T>C) | COSMIC COSMIC |
12 | g.47977318A>T | CA384539886 | COL2A1 | c.3066+2T>A (n.3066+2T>A) c.3273+2T>A (n.3273+2T>A) n.2359+2T>A n.126+2T>A c.3417+2T>A (n.3417+2T>A) c.3414+2T>A (n.3414+2T>A) c.2361+2T>A (n.2361+2T>A) c.3207+2T>A (n.3207+2T>A) c.2727+2T>A (n.2727+2T>A) | |
12 | g.47977318dup | CA2575137856 | COL2A1 | c.3066+2dup (n.3066+2dup) c.3273+2dup (n.3273+2dup) n.2359+2dup n.126+2dup c.3417+2dup (n.3417+2dup) c.3414+2dup (n.3414+2dup) c.2361+2dup (n.2361+2dup) c.3207+2dup (n.3207+2dup) c.2727+2dup (n.2727+2dup) | gnomAD v3 gnomAD v4 |
12 | g.47977319C>A | CA384539896 | COL2A1 | c.3066+1G>T (n.3066+1G>T) c.3273+1G>T (n.3273+1G>T) n.2359+1G>T n.126+1G>T c.3417+1G>T (n.3417+1G>T) c.3414+1G>T (n.3414+1G>T) c.2361+1G>T (n.2361+1G>T) c.3207+1G>T (n.3207+1G>T) c.2727+1G>T (n.2727+1G>T) | |
12 | g.47977319C>G | CA384539898 | COL2A1 | c.3066+1G>C (n.3066+1G>C) c.3273+1G>C (n.3273+1G>C) n.2359+1G>C n.126+1G>C c.3417+1G>C (n.3417+1G>C) c.3414+1G>C (n.3414+1G>C) c.2361+1G>C (n.2361+1G>C) c.3207+1G>C (n.3207+1G>C) c.2727+1G>C (n.2727+1G>C) | |
12 | g.47977319C>T | CA384539906 | COL2A1 | c.3066+1G>A (n.3066+1G>A) c.3273+1G>A (n.3273+1G>A) n.2359+1G>A n.126+1G>A c.3417+1G>A (n.3417+1G>A) c.3414+1G>A (n.3414+1G>A) c.2361+1G>A (n.2361+1G>A) c.3207+1G>A (n.3207+1G>A) c.2727+1G>A (n.2727+1G>A) | |
12 | g.47977320A>C | CA479453631 | COL2A1 | c.3066T>G (p.Ala1022=) c.3273T>G (p.Ala1091=) n.2359T>G n.126T>G c.3417T>G (p.Ala1139=) c.3414T>G (p.Ala1138=) c.2361T>G (p.Ala787=) c.3207T>G (p.Ala1069=) c.2727T>G (p.Ala909=) | |
12 | g.47977320A>G | CA479453634 | COL2A1 | c.3066T>C (p.Ala1022=) c.3273T>C (p.Ala1091=) n.2359T>C n.126T>C c.3417T>C (p.Ala1139=) c.3414T>C (p.Ala1138=) c.2361T>C (p.Ala787=) c.3207T>C (p.Ala1069=) c.2727T>C (p.Ala909=) | |
12 | g.47977320A>T | CA479453636 | COL2A1 | c.3066T>A (p.Ala1022=) c.3273T>A (p.Ala1091=) n.2359T>A n.126T>A c.3417T>A (p.Ala1139=) c.3414T>A (p.Ala1138=) c.2361T>A (p.Ala787=) c.3207T>A (p.Ala1069=) c.2727T>A (p.Ala909=) | gnomAD v4 |
12 | g.47977320_47977323delinsCTCTGTCTCCTTGTCTCCTTGCTG | CA2499221654 | COL2A1 | c.3063_3066delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1021AspfsTer?) c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090AspfsTer?) n.2356_2359delinsCAGCAAGGAGACAAGGAGACAGAG n.123_126delinsCAGCAAGGAGACAAGGAGACAGAG c.3414_3417delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1138AspfsTer?) c.3411_3414delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1137AspfsTer?) c.2358_2361delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu786AspfsTer?) c.3204_3207delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1068AspfsTer?) c.2724_2727delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu908AspfsTer?) | ClinVar dbSNP |
12 | g.47977321G>A | CA384539908 | COL2A1 | c.3065C>T (p.Ala1022Val) c.3272C>T (p.Ala1091Val) n.2358C>T n.125C>T c.3416C>T (p.Ala1139Val) c.3413C>T (p.Ala1138Val) c.2360C>T (p.Ala787Val) c.3206C>T (p.Ala1069Val) c.2726C>T (p.Ala909Val) | |
12 | g.47977321G>C | CA384539909 | COL2A1 | c.3065C>G (p.Ala1022Gly) c.3272C>G (p.Ala1091Gly) n.2358C>G n.125C>G c.3416C>G (p.Ala1139Gly) c.3413C>G (p.Ala1138Gly) c.2360C>G (p.Ala787Gly) c.3206C>G (p.Ala1069Gly) c.2726C>G (p.Ala909Gly) | |
12 | g.47977321G>T | CA384539917 | COL2A1 | c.3065C>A (p.Ala1022Asp) c.3272C>A (p.Ala1091Asp) n.2358C>A n.125C>A c.3416C>A (p.Ala1139Asp) c.3413C>A (p.Ala1138Asp) c.2360C>A (p.Ala787Asp) c.3206C>A (p.Ala1069Asp) c.2726C>A (p.Ala909Asp) | |
12 | g.47977322C>A | CA384539927 | COL2A1 | c.3064G>T (p.Ala1022Ser) c.3271G>T (p.Ala1091Ser) n.2357G>T n.124G>T c.3415G>T (p.Ala1139Ser) c.3412G>T (p.Ala1138Ser) c.2359G>T (p.Ala787Ser) c.3205G>T (p.Ala1069Ser) c.2725G>T (p.Ala909Ser) | |
12 | g.47977322C= | CA2034476374 | COL2A1 | c.3064G= (p.Ala1022=) c.3271G= (p.Ala1091=) n.2357G= n.124G= c.3415G= (p.Ala1139=) c.3412G= (p.Ala1138=) c.2359G= (p.Ala787=) c.3205G= (p.Ala1069=) c.2725G= (p.Ala909=) | |
12 | g.47977322C>G | CA384539922 | COL2A1 | c.3064G>C (p.Ala1022Pro) c.3271G>C (p.Ala1091Pro) n.2357G>C n.124G>C c.3415G>C (p.Ala1139Pro) c.3412G>C (p.Ala1138Pro) c.2359G>C (p.Ala787Pro) c.3205G>C (p.Ala1069Pro) c.2725G>C (p.Ala909Pro) | |
12 | g.47977322C>T | CA6534827 | COL2A1 | c.3064G>A (p.Ala1022Thr) c.3271G>A (p.Ala1091Thr) n.2357G>A n.124G>A c.3415G>A (p.Ala1139Thr) c.3412G>A (p.Ala1138Thr) c.2359G>A (p.Ala787Thr) c.3205G>A (p.Ala1069Thr) c.2725G>A (p.Ala909Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977323T>A | CA384539928 | COL2A1 | c.3063A>T (p.Glu1021Asp) c.3270A>T (p.Glu1090Asp) n.2356A>T n.123A>T c.3414A>T (p.Glu1138Asp) c.3411A>T (p.Glu1137Asp) c.2358A>T (p.Glu786Asp) c.3204A>T (p.Glu1068Asp) c.2724A>T (p.Glu908Asp) | |
12 | g.47977323T>C | CA479453646 | COL2A1 | c.3063A>G (p.Glu1021=) c.3270A>G (p.Glu1090=) n.2356A>G n.123A>G c.3414A>G (p.Glu1138=) c.3411A>G (p.Glu1137=) c.2358A>G (p.Glu786=) c.3204A>G (p.Glu1068=) c.2724A>G (p.Glu908=) | |
12 | g.47977323T>G | CA384539929 | COL2A1 | c.3063A>C (p.Glu1021Asp) c.3270A>C (p.Glu1090Asp) n.2356A>C n.123A>C c.3414A>C (p.Glu1138Asp) c.3411A>C (p.Glu1137Asp) c.2358A>C (p.Glu786Asp) c.3204A>C (p.Glu1068Asp) c.2724A>C (p.Glu908Asp) | |
12 | g.47977324T>A | CA384539930 | COL2A1 | c.3062A>T (p.Glu1021Val) c.3269A>T (p.Glu1090Val) n.2355A>T n.122A>T c.3413A>T (p.Glu1138Val) c.3410A>T (p.Glu1137Val) c.2357A>T (p.Glu786Val) c.3203A>T (p.Glu1068Val) c.2723A>T (p.Glu908Val) | |
12 | g.47977324T>C | CA384539931 | COL2A1 | c.3062A>G (p.Glu1021Gly) c.3269A>G (p.Glu1090Gly) n.2355A>G n.122A>G c.3413A>G (p.Glu1138Gly) c.3410A>G (p.Glu1137Gly) c.2357A>G (p.Glu786Gly) c.3203A>G (p.Glu1068Gly) c.2723A>G (p.Glu908Gly) | gnomAD v4 |
12 | g.47977324T>G | CA384539933 | COL2A1 | c.3062A>C (p.Glu1021Ala) c.3269A>C (p.Glu1090Ala) n.2355A>C n.122A>C c.3413A>C (p.Glu1138Ala) c.3410A>C (p.Glu1137Ala) c.2357A>C (p.Glu786Ala) c.3203A>C (p.Glu1068Ala) c.2723A>C (p.Glu908Ala) | |
12 | g.47977325C>A | CA384539945 | COL2A1 | c.3061G>T (p.Glu1021Ter) c.3268G>T (p.Glu1090Ter) n.2354G>T n.121G>T c.3412G>T (p.Glu1138Ter) c.3409G>T (p.Glu1137Ter) c.2356G>T (p.Glu786Ter) c.3202G>T (p.Glu1068Ter) c.2722G>T (p.Glu908Ter) | COSMIC COSMIC |
12 | g.47977325C>G | CA384539953 | COL2A1 | c.3061G>C (p.Glu1021Gln) c.3268G>C (p.Glu1090Gln) n.2354G>C n.121G>C c.3412G>C (p.Glu1138Gln) c.3409G>C (p.Glu1137Gln) c.2356G>C (p.Glu786Gln) c.3202G>C (p.Glu1068Gln) c.2722G>C (p.Glu908Gln) | |
12 | g.47977325C>T | CA384539950 | COL2A1 | c.3061G>A (p.Glu1021Lys) c.3268G>A (p.Glu1090Lys) n.2354G>A n.121G>A c.3412G>A (p.Glu1138Lys) c.3409G>A (p.Glu1137Lys) c.2356G>A (p.Glu786Lys) c.3202G>A (p.Glu1068Lys) c.2722G>A (p.Glu908Lys) | COSMIC COSMIC |
12 | g.47977328_47977330del | CA2580615170 | COL2A1 | c.3059_3061del (p.Gly1020del) c.3266_3268del (p.Gly1089del) n.2352_2354del n.119_121del c.3410_3412del (p.Gly1137del) c.3407_3409del (p.Gly1136del) c.2354_2356del (p.Gly785del) c.3200_3202del (p.Gly1067del) c.2720_2722del (p.Gly907del) | ClinVar dbSNP |
12 | g.47977326T>A | CA479453660 | COL2A1 | c.3060A>T (p.Gly1020=) c.3267A>T (p.Gly1089=) n.2353A>T n.120A>T c.3411A>T (p.Gly1137=) c.3408A>T (p.Gly1136=) c.2355A>T (p.Gly785=) c.3201A>T (p.Gly1067=) c.2721A>T (p.Gly907=) | |
12 | g.47977326T>C | CA479453659 | COL2A1 | c.3060A>G (p.Gly1020=) c.3267A>G (p.Gly1089=) n.2353A>G n.120A>G c.3411A>G (p.Gly1137=) c.3408A>G (p.Gly1136=) c.2355A>G (p.Gly785=) c.3201A>G (p.Gly1067=) c.2721A>G (p.Gly907=) | |
12 | g.47977326T>G | CA479453657 | COL2A1 | c.3060A>C (p.Gly1020=) c.3267A>C (p.Gly1089=) n.2353A>C n.120A>C c.3411A>C (p.Gly1137=) c.3408A>C (p.Gly1136=) c.2355A>C (p.Gly785=) c.3201A>C (p.Gly1067=) c.2721A>C (p.Gly907=) | |
12 | g.47977327C>A | CA384539956 | COL2A1 | c.3059G>T (p.Gly1020Val) c.3266G>T (p.Gly1089Val) n.2352G>T n.119G>T c.3410G>T (p.Gly1137Val) c.3407G>T (p.Gly1136Val) c.2354G>T (p.Gly785Val) c.3200G>T (p.Gly1067Val) c.2720G>T (p.Gly907Val) | |
12 | g.47977327C>G | CA384539959 | COL2A1 | c.3059G>C (p.Gly1020Ala) c.3266G>C (p.Gly1089Ala) n.2352G>C n.119G>C c.3410G>C (p.Gly1137Ala) c.3407G>C (p.Gly1136Ala) c.2354G>C (p.Gly785Ala) c.3200G>C (p.Gly1067Ala) c.2720G>C (p.Gly907Ala) | |
12 | g.47977327C>T | CA384539962 | COL2A1 | c.3059G>A (p.Gly1020Glu) c.3266G>A (p.Gly1089Glu) n.2352G>A n.119G>A c.3410G>A (p.Gly1137Glu) c.3407G>A (p.Gly1136Glu) c.2354G>A (p.Gly785Glu) c.3200G>A (p.Gly1067Glu) c.2720G>A (p.Gly907Glu) | ClinVar dbSNP |
12 | g.47977328C>A | CA384539966 | COL2A1 | c.3058G>T (p.Gly1020Ter) c.3265G>T (p.Gly1089Ter) n.2351G>T n.118G>T c.3409G>T (p.Gly1137Ter) c.3406G>T (p.Gly1136Ter) c.2353G>T (p.Gly785Ter) c.3199G>T (p.Gly1067Ter) c.2719G>T (p.Gly907Ter) | |
12 | g.47977328C= | CA2034476375 | COL2A1 | c.3058G= (p.Gly1020=) c.3265G= (p.Gly1089=) n.2351G= n.118G= c.3409G= (p.Gly1137=) c.3406G= (p.Gly1136=) c.2353G= (p.Gly785=) c.3199G= (p.Gly1067=) c.2719G= (p.Gly907=) | |
12 | g.47977328C>G | CA384539970 | COL2A1 | c.3058G>C (p.Gly1020Arg) c.3265G>C (p.Gly1089Arg) n.2351G>C n.118G>C c.3409G>C (p.Gly1137Arg) c.3406G>C (p.Gly1136Arg) c.2353G>C (p.Gly785Arg) c.3199G>C (p.Gly1067Arg) c.2719G>C (p.Gly907Arg) | |
12 | g.47977328C>T | CA384539972 | COL2A1 | c.3058G>A (p.Gly1020Arg) c.3265G>A (p.Gly1089Arg) n.2351G>A n.118G>A c.3409G>A (p.Gly1137Arg) c.3406G>A (p.Gly1136Arg) c.2353G>A (p.Gly785Arg) c.3199G>A (p.Gly1067Arg) c.2719G>A (p.Gly907Arg) | ClinVar dbSNP |
12 | g.47977330_47977331del | CA2695216636 | COL2A1 | c.3057_3058del (p.Gly1020ArgfsTer28) c.3264_3265del (p.Gly1089ArgfsTer28) n.2350_2351del n.117_118del c.3408_3409del (p.Gly1137ArgfsTer28) c.3405_3406del (p.Gly1136ArgfsTer28) c.2352_2353del (p.Gly785ArgfsTer28) c.3198_3199del (p.Gly1067ArgfsTer28) c.2718_2719del (p.Gly907ArgfsTer28) | ClinVar |
12 | g.47977329T>A | CA384539975 | COL2A1 | c.3057A>T (p.Arg1019Ser) c.3264A>T (p.Arg1088Ser) n.2350A>T n.117A>T c.3408A>T (p.Arg1136Ser) c.3405A>T (p.Arg1135Ser) c.2352A>T (p.Arg784Ser) c.3198A>T (p.Arg1066Ser) c.2718A>T (p.Arg906Ser) | |
12 | g.47977329T>C | CA479453670 | COL2A1 | c.3057A>G (p.Arg1019=) c.3264A>G (p.Arg1088=) n.2350A>G n.117A>G c.3408A>G (p.Arg1136=) c.3405A>G (p.Arg1135=) c.2352A>G (p.Arg784=) c.3198A>G (p.Arg1066=) c.2718A>G (p.Arg906=) | |
12 | g.47977329T>G | CA384539978 | COL2A1 | c.3057A>C (p.Arg1019Ser) c.3264A>C (p.Arg1088Ser) n.2350A>C n.117A>C c.3408A>C (p.Arg1136Ser) c.3405A>C (p.Arg1135Ser) c.2352A>C (p.Arg784Ser) c.3198A>C (p.Arg1066Ser) c.2718A>C (p.Arg906Ser) | gnomAD v4 |
12 | g.47977332_47977335del | CA2695216637 | COL2A1 | c.3054_3057del (p.Asp1018GlufsTer?) c.3261_3264del (p.Asp1087GlufsTer?) n.2347_2350del n.114_117del c.3405_3408del (p.Asp1135GlufsTer?) c.3402_3405del (p.Asp1134GlufsTer?) c.2349_2352del (p.Asp783GlufsTer?) c.3195_3198del (p.Asp1065GlufsTer?) c.2715_2718del (p.Asp905GlufsTer?) | |
12 | g.47977330C>A | CA384539984 | COL2A1 | c.3056G>T (p.Arg1019Ile) c.3263G>T (p.Arg1088Ile) n.2349G>T n.116G>T c.3407G>T (p.Arg1136Ile) c.3404G>T (p.Arg1135Ile) c.2351G>T (p.Arg784Ile) c.3197G>T (p.Arg1066Ile) c.2717G>T (p.Arg906Ile) | dbSNP gnomAD v2 |
12 | g.47977330C= | CA2034476376 | COL2A1 | c.3056G= (p.Arg1019=) c.3263G= (p.Arg1088=) n.2349G= n.116G= c.3407G= (p.Arg1136=) c.3404G= (p.Arg1135=) c.2351G= (p.Arg784=) c.3197G= (p.Arg1066=) c.2717G= (p.Arg906=) | |
12 | g.47977330C>G | CA384539987 | COL2A1 | c.3056G>C (p.Arg1019Thr) c.3263G>C (p.Arg1088Thr) n.2349G>C n.116G>C c.3407G>C (p.Arg1136Thr) c.3404G>C (p.Arg1135Thr) c.2351G>C (p.Arg784Thr) c.3197G>C (p.Arg1066Thr) c.2717G>C (p.Arg906Thr) | |
12 | g.47977330C>T | CA384539994 | COL2A1 | c.3056G>A (p.Arg1019Lys) c.3263G>A (p.Arg1088Lys) n.2349G>A n.116G>A c.3407G>A (p.Arg1136Lys) c.3404G>A (p.Arg1135Lys) c.2351G>A (p.Arg784Lys) c.3197G>A (p.Arg1066Lys) c.2717G>A (p.Arg906Lys) | |
12 | g.47977331T>A | CA384540010 | COL2A1 | c.3055A>T (p.Arg1019Ter) c.3262A>T (p.Arg1088Ter) n.2348A>T n.115A>T c.3406A>T (p.Arg1136Ter) c.3403A>T (p.Arg1135Ter) c.2350A>T (p.Arg784Ter) c.3196A>T (p.Arg1066Ter) c.2716A>T (p.Arg906Ter) | |
12 | g.47977331T>C | CA384540011 | COL2A1 | c.3055A>G (p.Arg1019Gly) c.3262A>G (p.Arg1088Gly) n.2348A>G n.115A>G c.3406A>G (p.Arg1136Gly) c.3403A>G (p.Arg1135Gly) c.2350A>G (p.Arg784Gly) c.3196A>G (p.Arg1066Gly) c.2716A>G (p.Arg906Gly) | ClinVar dbSNP gnomAD v4 |
12 | g.47977331T>G | CA479453677 | COL2A1 | c.3055A>C (p.Arg1019=) c.3262A>C (p.Arg1088=) n.2348A>C n.115A>C c.3406A>C (p.Arg1136=) c.3403A>C (p.Arg1135=) c.2350A>C (p.Arg784=) c.3196A>C (p.Arg1066=) c.2716A>C (p.Arg906=) | |
12 | g.47977332G>A | CA479453681 | COL2A1 | c.3054C>T (p.Asp1018=) c.3261C>T (p.Asp1087=) n.2347C>T n.114C>T c.3405C>T (p.Asp1135=) c.3402C>T (p.Asp1134=) c.2349C>T (p.Asp783=) c.3195C>T (p.Asp1065=) c.2715C>T (p.Asp905=) | |
12 | g.47977332G>C | CA384540013 | COL2A1 | c.3054C>G (p.Asp1018Glu) c.3261C>G (p.Asp1087Glu) n.2347C>G n.114C>G c.3405C>G (p.Asp1135Glu) c.3402C>G (p.Asp1134Glu) c.2349C>G (p.Asp783Glu) c.3195C>G (p.Asp1065Glu) c.2715C>G (p.Asp905Glu) | |
12 | g.47977332G>T | CA384540017 | COL2A1 | c.3054C>A (p.Asp1018Glu) c.3261C>A (p.Asp1087Glu) n.2347C>A n.114C>A c.3405C>A (p.Asp1135Glu) c.3402C>A (p.Asp1134Glu) c.2349C>A (p.Asp783Glu) c.3195C>A (p.Asp1065Glu) c.2715C>A (p.Asp905Glu) | |
12 | g.47977333T>A | CA384540021 | COL2A1 | c.3053A>T (p.Asp1018Val) c.3260A>T (p.Asp1087Val) n.2346A>T n.113A>T c.3404A>T (p.Asp1135Val) c.3401A>T (p.Asp1134Val) c.2348A>T (p.Asp783Val) c.3194A>T (p.Asp1065Val) c.2714A>T (p.Asp905Val) | |
12 | g.47977333T>C | CA384540024 | COL2A1 | c.3053A>G (p.Asp1018Gly) c.3260A>G (p.Asp1087Gly) n.2346A>G n.113A>G c.3404A>G (p.Asp1135Gly) c.3401A>G (p.Asp1134Gly) c.2348A>G (p.Asp783Gly) c.3194A>G (p.Asp1065Gly) c.2714A>G (p.Asp905Gly) | |
12 | g.47977333T>G | CA384540029 | COL2A1 | c.3053A>C (p.Asp1018Ala) c.3260A>C (p.Asp1087Ala) n.2346A>C n.113A>C c.3404A>C (p.Asp1135Ala) c.3401A>C (p.Asp1134Ala) c.2348A>C (p.Asp783Ala) c.3194A>C (p.Asp1065Ala) c.2714A>C (p.Asp905Ala) | |
12 | g.47977334C>A | CA384540032 | COL2A1 | c.3052G>T (p.Asp1018Tyr) c.3259G>T (p.Asp1087Tyr) n.2345G>T n.112G>T c.3403G>T (p.Asp1135Tyr) c.3400G>T (p.Asp1134Tyr) c.2347G>T (p.Asp783Tyr) c.3193G>T (p.Asp1065Tyr) c.2713G>T (p.Asp905Tyr) | |
12 | g.47977334C= | CA2034476377 | COL2A1 | c.3052G= (p.Asp1018=) c.3259G= (p.Asp1087=) n.2345G= n.112G= c.3403G= (p.Asp1135=) c.3400G= (p.Asp1134=) c.2347G= (p.Asp783=) c.3193G= (p.Asp1065=) c.2713G= (p.Asp905=) | |
12 | g.47977334C>G | CA384540046 | COL2A1 | c.3052G>C (p.Asp1018His) c.3259G>C (p.Asp1087His) n.2345G>C n.112G>C c.3403G>C (p.Asp1135His) c.3400G>C (p.Asp1134His) c.2347G>C (p.Asp783His) c.3193G>C (p.Asp1065His) c.2713G>C (p.Asp905His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977334C>T | CA384540051 | COL2A1 | c.3052G>A (p.Asp1018Asn) c.3259G>A (p.Asp1087Asn) n.2345G>A n.112G>A c.3403G>A (p.Asp1135Asn) c.3400G>A (p.Asp1134Asn) c.2347G>A (p.Asp783Asn) c.3193G>A (p.Asp1065Asn) c.2713G>A (p.Asp905Asn) | |
12 | g.47977335T>A | CA479453692 | COL2A1 | c.3051A>T (p.Gly1017=) c.3258A>T (p.Gly1086=) n.2344A>T n.111A>T c.3402A>T (p.Gly1134=) c.3399A>T (p.Gly1133=) c.2346A>T (p.Gly782=) c.3192A>T (p.Gly1064=) c.2712A>T (p.Gly904=) | |
12 | g.47977335T>C | CA479453694 | COL2A1 | c.3051A>G (p.Gly1017=) c.3258A>G (p.Gly1086=) n.2344A>G n.111A>G c.3402A>G (p.Gly1134=) c.3399A>G (p.Gly1133=) c.2346A>G (p.Gly782=) c.3192A>G (p.Gly1064=) c.2712A>G (p.Gly904=) | dbSNP |
12 | g.47977335T>G | CA479453696 | COL2A1 | c.3051A>C (p.Gly1017=) c.3258A>C (p.Gly1086=) n.2344A>C n.111A>C c.3402A>C (p.Gly1134=) c.3399A>C (p.Gly1133=) c.2346A>C (p.Gly782=) c.3192A>C (p.Gly1064=) c.2712A>C (p.Gly904=) | |
12 | g.47977335T= | CA2034476378 | COL2A1 | c.3051A= (p.Gly1017=) c.3258A= (p.Gly1086=) n.2344A= n.111A= c.3402A= (p.Gly1134=) c.3399A= (p.Gly1133=) c.2346A= (p.Gly782=) c.3192A= (p.Gly1064=) c.2712A= (p.Gly904=) | |
12 | g.47977336C>A | CA384540054 | COL2A1 | c.3050G>T (p.Gly1017Val) c.3257G>T (p.Gly1086Val) n.2343G>T n.110G>T c.3401G>T (p.Gly1134Val) c.3398G>T (p.Gly1133Val) c.2345G>T (p.Gly782Val) c.3191G>T (p.Gly1064Val) c.2711G>T (p.Gly904Val) | |
12 | g.47977336C>G | CA384540068 | COL2A1 | c.3050G>C (p.Gly1017Ala) c.3257G>C (p.Gly1086Ala) n.2343G>C n.110G>C c.3401G>C (p.Gly1134Ala) c.3398G>C (p.Gly1133Ala) c.2345G>C (p.Gly782Ala) c.3191G>C (p.Gly1064Ala) c.2711G>C (p.Gly904Ala) | |
12 | g.47977336C>T | CA384540071 | COL2A1 | c.3050G>A (p.Gly1017Glu) c.3257G>A (p.Gly1086Glu) n.2343G>A n.110G>A c.3401G>A (p.Gly1134Glu) c.3398G>A (p.Gly1133Glu) c.2345G>A (p.Gly782Glu) c.3191G>A (p.Gly1064Glu) c.2711G>A (p.Gly904Glu) | ClinVar dbSNP |
12 | g.47977337C>A | CA384540076 | COL2A1 | c.3049G>T (p.Gly1017Ter) c.3256G>T (p.Gly1086Ter) n.2342G>T n.109G>T c.3400G>T (p.Gly1134Ter) c.3397G>T (p.Gly1133Ter) c.2344G>T (p.Gly782Ter) c.3190G>T (p.Gly1064Ter) c.2710G>T (p.Gly904Ter) | |
12 | g.47977337C>G | CA384540079 | COL2A1 | c.3049G>C (p.Gly1017Arg) c.3256G>C (p.Gly1086Arg) n.2342G>C n.109G>C c.3400G>C (p.Gly1134Arg) c.3397G>C (p.Gly1133Arg) c.2344G>C (p.Gly782Arg) c.3190G>C (p.Gly1064Arg) c.2710G>C (p.Gly904Arg) | |
12 | g.47977337C>T | CA384540083 | COL2A1 | c.3049G>A (p.Gly1017Arg) c.3256G>A (p.Gly1086Arg) n.2342G>A n.109G>A c.3400G>A (p.Gly1134Arg) c.3397G>A (p.Gly1133Arg) c.2344G>A (p.Gly782Arg) c.3190G>A (p.Gly1064Arg) c.2710G>A (p.Gly904Arg) | ClinVar |
12 | g.47977338T>A | CA384540095 | COL2A1 | c.3048A>T (p.Gln1016His) c.3255A>T (p.Gln1085His) n.2341A>T n.108A>T c.3399A>T (p.Gln1133His) c.3396A>T (p.Gln1132His) c.2343A>T (p.Gln781His) c.3189A>T (p.Gln1063His) c.2709A>T (p.Gln903His) | |
12 | g.47977338T>C | CA479453706 | COL2A1 | c.3048A>G (p.Gln1016=) c.3255A>G (p.Gln1085=) n.2341A>G n.108A>G c.3399A>G (p.Gln1133=) c.3396A>G (p.Gln1132=) c.2343A>G (p.Gln781=) c.3189A>G (p.Gln1063=) c.2709A>G (p.Gln903=) | |
12 | g.47977338T>G | CA384540094 | COL2A1 | c.3048A>C (p.Gln1016His) c.3255A>C (p.Gln1085His) n.2341A>C n.108A>C c.3399A>C (p.Gln1133His) c.3396A>C (p.Gln1132His) c.2343A>C (p.Gln781His) c.3189A>C (p.Gln1063His) c.2709A>C (p.Gln903His) | |
12 | g.47977339T>A | CA384540099 | COL2A1 | c.3047A>T (p.Gln1016Leu) c.3254A>T (p.Gln1085Leu) n.2340A>T n.107A>T c.3398A>T (p.Gln1133Leu) c.3395A>T (p.Gln1132Leu) c.2342A>T (p.Gln781Leu) c.3188A>T (p.Gln1063Leu) c.2708A>T (p.Gln903Leu) | |
12 | g.47977339T>C | CA384540102 | COL2A1 | c.3047A>G (p.Gln1016Arg) c.3254A>G (p.Gln1085Arg) n.2340A>G n.107A>G c.3398A>G (p.Gln1133Arg) c.3395A>G (p.Gln1132Arg) c.2342A>G (p.Gln781Arg) c.3188A>G (p.Gln1063Arg) c.2708A>G (p.Gln903Arg) | |
12 | g.47977339T>G | CA384540105 | COL2A1 | c.3047A>C (p.Gln1016Pro) c.3254A>C (p.Gln1085Pro) n.2340A>C n.107A>C c.3398A>C (p.Gln1133Pro) c.3395A>C (p.Gln1132Pro) c.2342A>C (p.Gln781Pro) c.3188A>C (p.Gln1063Pro) c.2708A>C (p.Gln903Pro) | gnomAD v4 |
12 | g.47977340G>A | CA384540109 | COL2A1 | c.3046C>T (p.Gln1016Ter) c.3253C>T (p.Gln1085Ter) n.2339C>T n.106C>T c.3397C>T (p.Gln1133Ter) c.3394C>T (p.Gln1132Ter) c.2341C>T (p.Gln781Ter) c.3187C>T (p.Gln1063Ter) c.2707C>T (p.Gln903Ter) | COSMIC COSMIC |
12 | g.47977340G>C | CA384540112 | COL2A1 | c.3046C>G (p.Gln1016Glu) c.3253C>G (p.Gln1085Glu) n.2339C>G n.106C>G c.3397C>G (p.Gln1133Glu) c.3394C>G (p.Gln1132Glu) c.2341C>G (p.Gln781Glu) c.3187C>G (p.Gln1063Glu) c.2707C>G (p.Gln903Glu) | gnomAD v4 |
12 | g.47977340G>T | CA384540115 | COL2A1 | c.3046C>A (p.Gln1016Lys) c.3253C>A (p.Gln1085Lys) n.2339C>A n.106C>A c.3397C>A (p.Gln1133Lys) c.3394C>A (p.Gln1132Lys) c.2341C>A (p.Gln781Lys) c.3187C>A (p.Gln1063Lys) c.2707C>A (p.Gln903Lys) | |
12 | g.47977341C>A | CA6534828 | COL2A1 | c.3045G>T (p.Lys1015Asn) c.3252G>T (p.Lys1084Asn) n.2338G>T n.105G>T c.3396G>T (p.Lys1132Asn) c.3393G>T (p.Lys1131Asn) c.2340G>T (p.Lys780Asn) c.3186G>T (p.Lys1062Asn) c.2706G>T (p.Lys902Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47977341C= | CA2034476379 | COL2A1 | c.3045G= (p.Lys1015=) c.3252G= (p.Lys1084=) n.2338G= n.105G= c.3396G= (p.Lys1132=) c.3393G= (p.Lys1131=) c.2340G= (p.Lys780=) c.3186G= (p.Lys1062=) c.2706G= (p.Lys902=) | |
12 | g.47977341C>G | CA384540118 | COL2A1 | c.3045G>C (p.Lys1015Asn) c.3252G>C (p.Lys1084Asn) n.2338G>C n.105G>C c.3396G>C (p.Lys1132Asn) c.3393G>C (p.Lys1131Asn) c.2340G>C (p.Lys780Asn) c.3186G>C (p.Lys1062Asn) c.2706G>C (p.Lys902Asn) | |
12 | g.47977341C>T | CA479453718 | COL2A1 | c.3045G>A (p.Lys1015=) c.3252G>A (p.Lys1084=) n.2338G>A n.105G>A c.3396G>A (p.Lys1132=) c.3393G>A (p.Lys1131=) c.2340G>A (p.Lys780=) c.3186G>A (p.Lys1062=) c.2706G>A (p.Lys902=) | |
12 | g.47977341_47977342insAA | CA645570662 | COL2A1 | c.3044_3045insTT (p.Lys1015AsnfsTer?) c.3251_3252insTT (p.Lys1084AsnfsTer?) n.2337_2338insTT n.104_105insTT c.3395_3396insTT (p.Lys1132AsnfsTer?) c.3392_3393insTT (p.Lys1131AsnfsTer?) c.2339_2340insTT (p.Lys780AsnfsTer?) c.3185_3186insTT (p.Lys1062AsnfsTer?) c.2705_2706insTT (p.Lys902AsnfsTer?) | COSMIC COSMIC |
12 | g.47977342T>A | CA384540123 | COL2A1 | c.3044A>T (p.Lys1015Met) c.3251A>T (p.Lys1084Met) n.2337A>T n.104A>T c.3395A>T (p.Lys1132Met) c.3392A>T (p.Lys1131Met) c.2339A>T (p.Lys780Met) c.3185A>T (p.Lys1062Met) c.2705A>T (p.Lys902Met) | |
12 | g.47977342T>C | CA384540125 | COL2A1 | c.3044A>G (p.Lys1015Arg) c.3251A>G (p.Lys1084Arg) n.2337A>G n.104A>G c.3395A>G (p.Lys1132Arg) c.3392A>G (p.Lys1131Arg) c.2339A>G (p.Lys780Arg) c.3185A>G (p.Lys1062Arg) c.2705A>G (p.Lys902Arg) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47977342T>G | CA384540127 | COL2A1 | c.3044A>C (p.Lys1015Thr) c.3251A>C (p.Lys1084Thr) n.2337A>C n.104A>C c.3395A>C (p.Lys1132Thr) c.3392A>C (p.Lys1131Thr) c.2339A>C (p.Lys780Thr) c.3185A>C (p.Lys1062Thr) c.2705A>C (p.Lys902Thr) | |
12 | g.47977342T= | CA2034476380 | COL2A1 | c.3044A= (p.Lys1015=) c.3251A= (p.Lys1084=) n.2337A= n.104A= c.3395A= (p.Lys1132=) c.3392A= (p.Lys1131=) c.2339A= (p.Lys780=) c.3185A= (p.Lys1062=) c.2705A= (p.Lys902=) | |
12 | g.47977343T>A | CA384540130 | COL2A1 | c.3043A>T (p.Lys1015Ter) c.3250A>T (p.Lys1084Ter) n.2336A>T n.103A>T c.3394A>T (p.Lys1132Ter) c.3391A>T (p.Lys1131Ter) c.2338A>T (p.Lys780Ter) c.3184A>T (p.Lys1062Ter) c.2704A>T (p.Lys902Ter) | |
12 | g.47977343T>C | CA384540132 | COL2A1 | c.3043A>G (p.Lys1015Glu) c.3250A>G (p.Lys1084Glu) n.2336A>G n.103A>G c.3394A>G (p.Lys1132Glu) c.3391A>G (p.Lys1131Glu) c.2338A>G (p.Lys780Glu) c.3184A>G (p.Lys1062Glu) c.2704A>G (p.Lys902Glu) | dbSNP |
12 | g.47977343T>G | CA384540135 | COL2A1 | c.3043A>C (p.Lys1015Gln) c.3250A>C (p.Lys1084Gln) n.2336A>C n.103A>C c.3394A>C (p.Lys1132Gln) c.3391A>C (p.Lys1131Gln) c.2338A>C (p.Lys780Gln) c.3184A>C (p.Lys1062Gln) c.2704A>C (p.Lys902Gln) | |
12 | g.47977343T= | CA2034476381 | COL2A1 | c.3043A= (p.Lys1015=) c.3250A= (p.Lys1084=) n.2336A= n.103A= c.3394A= (p.Lys1132=) c.3391A= (p.Lys1131=) c.2338A= (p.Lys780=) c.3184A= (p.Lys1062=) c.2704A= (p.Lys902=) | |
12 | g.47977344G>A | CA479453727 | COL2A1 | c.3042C>T (p.Gly1014=) c.3249C>T (p.Gly1083=) n.2335C>T n.102C>T c.3393C>T (p.Gly1131=) c.3390C>T (p.Gly1130=) c.2337C>T (p.Gly779=) c.3183C>T (p.Gly1061=) c.2703C>T (p.Gly901=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977344G>C | CA479453729 | COL2A1 | c.3042C>G (p.Gly1014=) c.3249C>G (p.Gly1083=) n.2335C>G n.102C>G c.3393C>G (p.Gly1131=) c.3390C>G (p.Gly1130=) c.2337C>G (p.Gly779=) c.3183C>G (p.Gly1061=) c.2703C>G (p.Gly901=) | |
12 | g.47977344G= | CA2034476382 | COL2A1 | c.3042C= (p.Gly1014=) c.3249C= (p.Gly1083=) n.2335C= n.102C= c.3393C= (p.Gly1131=) c.3390C= (p.Gly1130=) c.2337C= (p.Gly779=) c.3183C= (p.Gly1061=) c.2703C= (p.Gly901=) | |
12 | g.47977344G>T | CA479453731 | COL2A1 | c.3042C>A (p.Gly1014=) c.3249C>A (p.Gly1083=) n.2335C>A n.102C>A c.3393C>A (p.Gly1131=) c.3390C>A (p.Gly1130=) c.2337C>A (p.Gly779=) c.3183C>A (p.Gly1061=) c.2703C>A (p.Gly901=) | COSMIC COSMIC |
12 | g.47977345C>A | CA384540137 | COL2A1 | c.3041G>T (p.Gly1014Val) c.3248G>T (p.Gly1083Val) n.2334G>T n.101G>T c.3392G>T (p.Gly1131Val) c.3389G>T (p.Gly1130Val) c.2336G>T (p.Gly779Val) c.3182G>T (p.Gly1061Val) c.2702G>T (p.Gly901Val) | |
12 | g.47977345C>G | CA384540142 | COL2A1 | c.3041G>C (p.Gly1014Ala) c.3248G>C (p.Gly1083Ala) n.2334G>C n.101G>C c.3392G>C (p.Gly1131Ala) c.3389G>C (p.Gly1130Ala) c.2336G>C (p.Gly779Ala) c.3182G>C (p.Gly1061Ala) c.2702G>C (p.Gly901Ala) | |
12 | g.47977345C>T | CA384540139 | COL2A1 | c.3041G>A (p.Gly1014Asp) c.3248G>A (p.Gly1083Asp) n.2334G>A n.101G>A c.3392G>A (p.Gly1131Asp) c.3389G>A (p.Gly1130Asp) c.2336G>A (p.Gly779Asp) c.3182G>A (p.Gly1061Asp) c.2702G>A (p.Gly901Asp) | |
12 | g.47977346C>A | CA384540145 | COL2A1 | c.3040G>T (p.Gly1014Cys) c.3247G>T (p.Gly1083Cys) n.2333G>T n.100G>T c.3391G>T (p.Gly1131Cys) c.3388G>T (p.Gly1130Cys) c.2335G>T (p.Gly779Cys) c.3181G>T (p.Gly1061Cys) c.2701G>T (p.Gly901Cys) | |
12 | g.47977346C>G | CA384540148 | COL2A1 | c.3040G>C (p.Gly1014Arg) c.3247G>C (p.Gly1083Arg) n.2333G>C n.100G>C c.3391G>C (p.Gly1131Arg) c.3388G>C (p.Gly1130Arg) c.2335G>C (p.Gly779Arg) c.3181G>C (p.Gly1061Arg) c.2701G>C (p.Gly901Arg) | |
12 | g.47977346C>T | CA384540151 | COL2A1 | c.3040G>A (p.Gly1014Ser) c.3247G>A (p.Gly1083Ser) n.2333G>A n.100G>A c.3391G>A (p.Gly1131Ser) c.3388G>A (p.Gly1130Ser) c.2335G>A (p.Gly779Ser) c.3181G>A (p.Gly1061Ser) c.2701G>A (p.Gly901Ser) | |
12 | g.47977347A>C | CA479453740 | COL2A1 | c.3039T>G (p.Thr1013=) c.3246T>G (p.Thr1082=) n.2332T>G n.99T>G c.3390T>G (p.Thr1130=) c.3387T>G (p.Thr1129=) c.2334T>G (p.Thr778=) c.3180T>G (p.Thr1060=) c.2700T>G (p.Thr900=) | |
12 | g.47977347A>G | CA479453743 | COL2A1 | c.3039T>C (p.Thr1013=) c.3246T>C (p.Thr1082=) n.2332T>C n.99T>C c.3390T>C (p.Thr1130=) c.3387T>C (p.Thr1129=) c.2334T>C (p.Thr778=) c.3180T>C (p.Thr1060=) c.2700T>C (p.Thr900=) | |
12 | g.47977347A>T | CA479453741 | COL2A1 | c.3039T>A (p.Thr1013=) c.3246T>A (p.Thr1082=) n.2332T>A n.99T>A c.3390T>A (p.Thr1130=) c.3387T>A (p.Thr1129=) c.2334T>A (p.Thr778=) c.3180T>A (p.Thr1060=) c.2700T>A (p.Thr900=) | |
12 | g.47977348G>A | CA384540152 | COL2A1 | c.3038C>T (p.Thr1013Ile) c.3245C>T (p.Thr1082Ile) n.2331C>T n.98C>T c.3389C>T (p.Thr1130Ile) c.3386C>T (p.Thr1129Ile) c.2333C>T (p.Thr778Ile) c.3179C>T (p.Thr1060Ile) c.2699C>T (p.Thr900Ile) | |
12 | g.47977348G>C | CA384540153 | COL2A1 | c.3038C>G (p.Thr1013Ser) c.3245C>G (p.Thr1082Ser) n.2331C>G n.98C>G c.3389C>G (p.Thr1130Ser) c.3386C>G (p.Thr1129Ser) c.2333C>G (p.Thr778Ser) c.3179C>G (p.Thr1060Ser) c.2699C>G (p.Thr900Ser) | |
12 | g.47977348G>T | CA384540154 | COL2A1 | c.3038C>A (p.Thr1013Asn) c.3245C>A (p.Thr1082Asn) n.2331C>A n.98C>A c.3389C>A (p.Thr1130Asn) c.3386C>A (p.Thr1129Asn) c.2333C>A (p.Thr778Asn) c.3179C>A (p.Thr1060Asn) c.2699C>A (p.Thr900Asn) | |
12 | g.47977349T>A | CA384540158 | COL2A1 | c.3037A>T (p.Thr1013Ser) c.3244A>T (p.Thr1082Ser) n.2330A>T n.97A>T c.3388A>T (p.Thr1130Ser) c.3385A>T (p.Thr1129Ser) c.2332A>T (p.Thr778Ser) c.3178A>T (p.Thr1060Ser) c.2698A>T (p.Thr900Ser) | |
12 | g.47977349T>C | CA10637555 | COL2A1 | c.3037A>G (p.Thr1013Ala) c.3244A>G (p.Thr1082Ala) n.2330A>G n.97A>G c.3388A>G (p.Thr1130Ala) c.3385A>G (p.Thr1129Ala) c.2332A>G (p.Thr778Ala) c.3178A>G (p.Thr1060Ala) c.2698A>G (p.Thr900Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47977349T>G | CA384540163 | COL2A1 | c.3037A>C (p.Thr1013Pro) c.3244A>C (p.Thr1082Pro) n.2330A>C n.97A>C c.3388A>C (p.Thr1130Pro) c.3385A>C (p.Thr1129Pro) c.2332A>C (p.Thr778Pro) c.3178A>C (p.Thr1060Pro) c.2698A>C (p.Thr900Pro) | |
12 | g.47977349T= | CA2034476383 | COL2A1 | c.3037A= (p.Thr1013=) c.3244A= (p.Thr1082=) n.2330A= n.97A= c.3388A= (p.Thr1130=) c.3385A= (p.Thr1129=) c.2332A= (p.Thr778=) c.3178A= (p.Thr1060=) c.2698A= (p.Thr900=) | |
12 | g.47977350T>A | CA479453754 | COL2A1 | c.3036A>T (p.Pro1012=) c.3243A>T (p.Pro1081=) n.2329A>T n.96A>T c.3387A>T (p.Pro1129=) c.3384A>T (p.Pro1128=) c.2331A>T (p.Pro777=) c.3177A>T (p.Pro1059=) c.2697A>T (p.Pro899=) | |
12 | g.47977350T>C | CA479453755 | COL2A1 | c.3036A>G (p.Pro1012=) c.3243A>G (p.Pro1081=) n.2329A>G n.96A>G c.3387A>G (p.Pro1129=) c.3384A>G (p.Pro1128=) c.2331A>G (p.Pro777=) c.3177A>G (p.Pro1059=) c.2697A>G (p.Pro899=) | |
12 | g.47977350T>G | CA479453757 | COL2A1 | c.3036A>C (p.Pro1012=) c.3243A>C (p.Pro1081=) n.2329A>C n.96A>C c.3387A>C (p.Pro1129=) c.3384A>C (p.Pro1128=) c.2331A>C (p.Pro777=) c.3177A>C (p.Pro1059=) c.2697A>C (p.Pro899=) | |
12 | g.47977351G>A | CA6534829 | COL2A1 | c.3035C>T (p.Pro1012Leu) c.3242C>T (p.Pro1081Leu) n.2328C>T n.95C>T c.3386C>T (p.Pro1129Leu) c.3383C>T (p.Pro1128Leu) c.2330C>T (p.Pro777Leu) c.3176C>T (p.Pro1059Leu) c.2696C>T (p.Pro899Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.47977351G>C | CA384540166 | COL2A1 | c.3035C>G (p.Pro1012Arg) c.3242C>G (p.Pro1081Arg) n.2328C>G n.95C>G c.3386C>G (p.Pro1129Arg) c.3383C>G (p.Pro1128Arg) c.2330C>G (p.Pro777Arg) c.3176C>G (p.Pro1059Arg) c.2696C>G (p.Pro899Arg) | |
12 | g.47977351G= | CA2034476384 | COL2A1 | c.3035C= (p.Pro1012=) c.3242C= (p.Pro1081=) n.2328C= n.95C= c.3386C= (p.Pro1129=) c.3383C= (p.Pro1128=) c.2330C= (p.Pro777=) c.3176C= (p.Pro1059=) c.2696C= (p.Pro899=) | |
12 | g.47977351G>T | CA384540170 | COL2A1 | c.3035C>A (p.Pro1012Gln) c.3242C>A (p.Pro1081Gln) n.2328C>A n.95C>A c.3386C>A (p.Pro1129Gln) c.3383C>A (p.Pro1128Gln) c.2330C>A (p.Pro777Gln) c.3176C>A (p.Pro1059Gln) c.2696C>A (p.Pro899Gln) | gnomAD v4 |
12 | g.47977352G>A | CA6534830 | COL2A1 | c.3034C>T (p.Pro1012Ser) c.3241C>T (p.Pro1081Ser) n.2327C>T n.94C>T c.3385C>T (p.Pro1129Ser) c.3382C>T (p.Pro1128Ser) c.2329C>T (p.Pro777Ser) c.3175C>T (p.Pro1059Ser) c.2695C>T (p.Pro899Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47977352G>C | CA384540173 | COL2A1 | c.3034C>G (p.Pro1012Ala) c.3241C>G (p.Pro1081Ala) n.2327C>G n.94C>G c.3385C>G (p.Pro1129Ala) c.3382C>G (p.Pro1128Ala) c.2329C>G (p.Pro777Ala) c.3175C>G (p.Pro1059Ala) c.2695C>G (p.Pro899Ala) | gnomAD v4 |
12 | g.47977352G= | CA2034476385 | COL2A1 | c.3034C= (p.Pro1012=) c.3241C= (p.Pro1081=) n.2327C= n.94C= c.3385C= (p.Pro1129=) c.3382C= (p.Pro1128=) c.2329C= (p.Pro777=) c.3175C= (p.Pro1059=) c.2695C= (p.Pro899=) | |
12 | g.47977352G>T | CA384540174 | COL2A1 | c.3034C>A (p.Pro1012Thr) c.3241C>A (p.Pro1081Thr) n.2327C>A n.94C>A c.3385C>A (p.Pro1129Thr) c.3382C>A (p.Pro1128Thr) c.2329C>A (p.Pro777Thr) c.3175C>A (p.Pro1059Thr) c.2695C>A (p.Pro899Thr) | |
12 | g.47977353A= | CA2034476386 | COL2A1 | c.3033T= (p.Gly1011=) c.3240T= (p.Gly1080=) n.2326T= n.93T= c.3384T= (p.Gly1128=) c.3381T= (p.Gly1127=) c.2328T= (p.Gly776=) c.3174T= (p.Gly1058=) c.2694T= (p.Gly898=) | |
12 | g.47977353A>C | CA479453767 | COL2A1 | c.3033T>G (p.Gly1011=) c.3240T>G (p.Gly1080=) n.2326T>G n.93T>G c.3384T>G (p.Gly1128=) c.3381T>G (p.Gly1127=) c.2328T>G (p.Gly776=) c.3174T>G (p.Gly1058=) c.2694T>G (p.Gly898=) | dbSNP |
12 | g.47977353A>G | CA479453769 | COL2A1 | c.3033T>C (p.Gly1011=) c.3240T>C (p.Gly1080=) n.2326T>C n.93T>C c.3384T>C (p.Gly1128=) c.3381T>C (p.Gly1127=) c.2328T>C (p.Gly776=) c.3174T>C (p.Gly1058=) c.2694T>C (p.Gly898=) | |
12 | g.47977353A>T | CA479453771 | COL2A1 | c.3033T>A (p.Gly1011=) c.3240T>A (p.Gly1080=) n.2326T>A n.93T>A c.3384T>A (p.Gly1128=) c.3381T>A (p.Gly1127=) c.2328T>A (p.Gly776=) c.3174T>A (p.Gly1058=) c.2694T>A (p.Gly898=) | |
12 | g.47977354C>A | CA384540180 | COL2A1 | c.3032G>T (p.Gly1011Val) c.3239G>T (p.Gly1080Val) n.2325G>T n.92G>T c.3383G>T (p.Gly1128Val) c.3380G>T (p.Gly1127Val) c.2327G>T (p.Gly776Val) c.3173G>T (p.Gly1058Val) c.2693G>T (p.Gly898Val) | |
12 | g.47977354C>G | CA384540183 | COL2A1 | c.3032G>C (p.Gly1011Ala) c.3239G>C (p.Gly1080Ala) n.2325G>C n.92G>C c.3383G>C (p.Gly1128Ala) c.3380G>C (p.Gly1127Ala) c.2327G>C (p.Gly776Ala) c.3173G>C (p.Gly1058Ala) c.2693G>C (p.Gly898Ala) | |
12 | g.47977354C>T | CA384540186 | COL2A1 | c.3032G>A (p.Gly1011Asp) c.3239G>A (p.Gly1080Asp) n.2325G>A n.92G>A c.3383G>A (p.Gly1128Asp) c.3380G>A (p.Gly1127Asp) c.2327G>A (p.Gly776Asp) c.3173G>A (p.Gly1058Asp) c.2693G>A (p.Gly898Asp) | |
12 | g.47977355C>A | CA384540188 | COL2A1 | c.3031G>T (p.Gly1011Cys) c.3238G>T (p.Gly1080Cys) n.2324G>T n.91G>T c.3382G>T (p.Gly1128Cys) c.3379G>T (p.Gly1127Cys) c.2326G>T (p.Gly776Cys) c.3172G>T (p.Gly1058Cys) c.2692G>T (p.Gly898Cys) | |
12 | g.47977355C>G | CA384540190 | COL2A1 | c.3031G>C (p.Gly1011Arg) c.3238G>C (p.Gly1080Arg) n.2324G>C n.91G>C c.3382G>C (p.Gly1128Arg) c.3379G>C (p.Gly1127Arg) c.2326G>C (p.Gly776Arg) c.3172G>C (p.Gly1058Arg) c.2692G>C (p.Gly898Arg) | ClinVar |
12 | g.47977355C>T | CA384540192 | COL2A1 | c.3031G>A (p.Gly1011Ser) c.3238G>A (p.Gly1080Ser) n.2324G>A n.91G>A c.3382G>A (p.Gly1128Ser) c.3379G>A (p.Gly1127Ser) c.2326G>A (p.Gly776Ser) c.3172G>A (p.Gly1058Ser) c.2692G>A (p.Gly898Ser) | ClinVar |
12 | g.47977356A>C | CA479453780 | COL2A1 | c.3030T>G (p.Ala1010=) c.3237T>G (p.Ala1079=) n.2323T>G n.90T>G c.3381T>G (p.Ala1127=) c.3378T>G (p.Ala1126=) c.2325T>G (p.Ala775=) c.3171T>G (p.Ala1057=) c.2691T>G (p.Ala897=) | ClinVar dbSNP |
12 | g.47977356A>G | CA479453782 | COL2A1 | c.3030T>C (p.Ala1010=) c.3237T>C (p.Ala1079=) n.2323T>C n.90T>C c.3381T>C (p.Ala1127=) c.3378T>C (p.Ala1126=) c.2325T>C (p.Ala775=) c.3171T>C (p.Ala1057=) c.2691T>C (p.Ala897=) | ClinVar gnomAD v4 |
12 | g.47977356A>T | CA479453783 | COL2A1 | c.3030T>A (p.Ala1010=) c.3237T>A (p.Ala1079=) n.2323T>A n.90T>A c.3381T>A (p.Ala1127=) c.3378T>A (p.Ala1126=) c.2325T>A (p.Ala775=) c.3171T>A (p.Ala1057=) c.2691T>A (p.Ala897=) | |
12 | g.47977357G>A | CA384540195 | COL2A1 | c.3029C>T (p.Ala1010Val) c.3236C>T (p.Ala1079Val) n.2322C>T n.89C>T c.3380C>T (p.Ala1127Val) c.3377C>T (p.Ala1126Val) c.2324C>T (p.Ala775Val) c.3170C>T (p.Ala1057Val) c.2690C>T (p.Ala897Val) | |
12 | g.47977357G>C | CA384540197 | COL2A1 | c.3029C>G (p.Ala1010Gly) c.3236C>G (p.Ala1079Gly) n.2322C>G n.89C>G c.3380C>G (p.Ala1127Gly) c.3377C>G (p.Ala1126Gly) c.2324C>G (p.Ala775Gly) c.3170C>G (p.Ala1057Gly) c.2690C>G (p.Ala897Gly) | |
12 | g.47977357G>T | CA384540201 | COL2A1 | c.3029C>A (p.Ala1010Asp) c.3236C>A (p.Ala1079Asp) n.2322C>A n.89C>A c.3380C>A (p.Ala1127Asp) c.3377C>A (p.Ala1126Asp) c.2324C>A (p.Ala775Asp) c.3170C>A (p.Ala1057Asp) c.2690C>A (p.Ala897Asp) | gnomAD v4 |
12 | g.47977357dup | CA2840841049 | COL2A1 | c.3029dup (p.Gly1011TrpfsTer?) c.3236dup (p.Gly1080TrpfsTer?) n.2322dup n.89dup c.3380dup (p.Gly1128TrpfsTer?) c.3377dup (p.Gly1127TrpfsTer?) c.2324dup (p.Gly776TrpfsTer?) c.3170dup (p.Gly1058TrpfsTer?) c.2690dup (p.Gly898TrpfsTer?) | |
12 | g.47977358del | CA2837994910 | COL2A1 | c.3028del (p.Ala1010LeufsTer?) c.3235del (p.Ala1079LeufsTer?) n.2321del n.88del c.3379del (p.Ala1127LeufsTer?) c.3376del (p.Ala1126LeufsTer?) c.2323del (p.Ala775LeufsTer?) c.3169del (p.Ala1057LeufsTer?) c.2689del (p.Ala897LeufsTer?) | |
12 | g.47977358C>A | CA384540204 | COL2A1 | c.3028G>T (p.Ala1010Ser) c.3235G>T (p.Ala1079Ser) n.2321G>T n.88G>T c.3379G>T (p.Ala1127Ser) c.3376G>T (p.Ala1126Ser) c.2323G>T (p.Ala775Ser) c.3169G>T (p.Ala1057Ser) c.2689G>T (p.Ala897Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47977358C= | CA2034476387 | COL2A1 | c.3028G= (p.Ala1010=) c.3235G= (p.Ala1079=) n.2321G= n.88G= c.3379G= (p.Ala1127=) c.3376G= (p.Ala1126=) c.2323G= (p.Ala775=) c.3169G= (p.Ala1057=) c.2689G= (p.Ala897=) | |
12 | g.47977358C>G | CA384540206 | COL2A1 | c.3028G>C (p.Ala1010Pro) c.3235G>C (p.Ala1079Pro) n.2321G>C n.88G>C c.3379G>C (p.Ala1127Pro) c.3376G>C (p.Ala1126Pro) c.2323G>C (p.Ala775Pro) c.3169G>C (p.Ala1057Pro) c.2689G>C (p.Ala897Pro) | |
12 | g.47977358C>T | CA6534831 | COL2A1 | c.3028G>A (p.Ala1010Thr) c.3235G>A (p.Ala1079Thr) n.2321G>A n.88G>A c.3379G>A (p.Ala1127Thr) c.3376G>A (p.Ala1126Thr) c.2323G>A (p.Ala775Thr) c.3169G>A (p.Ala1057Thr) c.2689G>A (p.Ala897Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977359G>A | CA6534832 | COL2A1 | c.3027C>T (p.Pro1009=) c.3234C>T (p.Pro1078=) n.2320C>T n.87C>T c.3378C>T (p.Pro1126=) c.3375C>T (p.Pro1125=) c.2322C>T (p.Pro774=) c.3168C>T (p.Pro1056=) c.2688C>T (p.Pro896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977359G>C | CA479453792 | COL2A1 | c.3027C>G (p.Pro1009=) c.3234C>G (p.Pro1078=) n.2320C>G n.87C>G c.3378C>G (p.Pro1126=) c.3375C>G (p.Pro1125=) c.2322C>G (p.Pro774=) c.3168C>G (p.Pro1056=) c.2688C>G (p.Pro896=) | |
12 | g.47977359G= | CA2034476388 | COL2A1 | c.3027C= (p.Pro1009=) c.3234C= (p.Pro1078=) n.2320C= n.87C= c.3378C= (p.Pro1126=) c.3375C= (p.Pro1125=) c.2322C= (p.Pro774=) c.3168C= (p.Pro1056=) c.2688C= (p.Pro896=) | |
12 | g.47977359G>T | CA479453794 | COL2A1 | c.3027C>A (p.Pro1009=) c.3234C>A (p.Pro1078=) n.2320C>A n.87C>A c.3378C>A (p.Pro1126=) c.3375C>A (p.Pro1125=) c.2322C>A (p.Pro774=) c.3168C>A (p.Pro1056=) c.2688C>A (p.Pro896=) | |
12 | g.47977362dup | CA2573148618 | COL2A1 | c.3027dup (p.Ala1010ArgfsTer?) c.3234dup (p.Ala1079ArgfsTer?) n.2320dup n.87dup c.3378dup (p.Ala1127ArgfsTer?) c.3375dup (p.Ala1126ArgfsTer?) c.2322dup (p.Ala775ArgfsTer?) c.3168dup (p.Ala1057ArgfsTer?) c.2688dup (p.Ala897ArgfsTer?) | ClinVar dbSNP |
12 | g.47977361_47977379dup | CA2573148617 | COL2A1 | c.3009_3027dup (p.Ala1010ProfsTer?) c.3216_3234dup (p.Ala1079ProfsTer?) n.2302_2320dup n.69_87dup c.3360_3378dup (p.Ala1127ProfsTer?) c.3357_3375dup (p.Ala1126ProfsTer?) c.2304_2322dup (p.Ala775ProfsTer?) c.3150_3168dup (p.Ala1057ProfsTer?) c.2670_2688dup (p.Ala897ProfsTer?) | ClinVar dbSNP |
12 | g.47977360G>A | CA384540211 | COL2A1 | c.3026C>T (p.Pro1009Leu) c.3233C>T (p.Pro1078Leu) n.2319C>T n.86C>T c.3377C>T (p.Pro1126Leu) c.3374C>T (p.Pro1125Leu) c.2321C>T (p.Pro774Leu) c.3167C>T (p.Pro1056Leu) c.2687C>T (p.Pro896Leu) | COSMIC COSMIC |
12 | g.47977360G>C | CA384540209 | COL2A1 | c.3026C>G (p.Pro1009Arg) c.3233C>G (p.Pro1078Arg) n.2319C>G n.86C>G c.3377C>G (p.Pro1126Arg) c.3374C>G (p.Pro1125Arg) c.2321C>G (p.Pro774Arg) c.3167C>G (p.Pro1056Arg) c.2687C>G (p.Pro896Arg) | |
12 | g.47977360G>T | CA384540216 | COL2A1 | c.3026C>A (p.Pro1009His) c.3233C>A (p.Pro1078His) n.2319C>A n.86C>A c.3377C>A (p.Pro1126His) c.3374C>A (p.Pro1125His) c.2321C>A (p.Pro774His) c.3167C>A (p.Pro1056His) c.2687C>A (p.Pro896His) | |
12 | g.47977361G>A | CA384540218 | COL2A1 | c.3025C>T (p.Pro1009Ser) c.3232C>T (p.Pro1078Ser) n.2318C>T n.85C>T c.3376C>T (p.Pro1126Ser) c.3373C>T (p.Pro1125Ser) c.2320C>T (p.Pro774Ser) c.3166C>T (p.Pro1056Ser) c.2686C>T (p.Pro896Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977361G>C | CA384540219 | COL2A1 | c.3025C>G (p.Pro1009Ala) c.3232C>G (p.Pro1078Ala) n.2318C>G n.85C>G c.3376C>G (p.Pro1126Ala) c.3373C>G (p.Pro1125Ala) c.2320C>G (p.Pro774Ala) c.3166C>G (p.Pro1056Ala) c.2686C>G (p.Pro896Ala) | |
12 | g.47977361G= | CA2034476389 | COL2A1 | c.3025C= (p.Pro1009=) c.3232C= (p.Pro1078=) n.2318C= n.85C= c.3376C= (p.Pro1126=) c.3373C= (p.Pro1125=) c.2320C= (p.Pro774=) c.3166C= (p.Pro1056=) c.2686C= (p.Pro896=) | |
12 | g.47977361G>T | CA384540221 | COL2A1 | c.3025C>A (p.Pro1009Thr) c.3232C>A (p.Pro1078Thr) n.2318C>A n.85C>A c.3376C>A (p.Pro1126Thr) c.3373C>A (p.Pro1125Thr) c.2320C>A (p.Pro774Thr) c.3166C>A (p.Pro1056Thr) c.2686C>A (p.Pro896Thr) | |
12 | g.47977362G>A | CA479453805 | COL2A1 | c.3024C>T (p.Gly1008=) c.3231C>T (p.Gly1077=) n.2317C>T n.84C>T c.3375C>T (p.Gly1125=) c.3372C>T (p.Gly1124=) c.2319C>T (p.Gly773=) c.3165C>T (p.Gly1055=) c.2685C>T (p.Gly895=) | dbSNP gnomAD v2 |
12 | g.47977362G>C | CA479453806 | COL2A1 | c.3024C>G (p.Gly1008=) c.3231C>G (p.Gly1077=) n.2317C>G n.84C>G c.3375C>G (p.Gly1125=) c.3372C>G (p.Gly1124=) c.2319C>G (p.Gly773=) c.3165C>G (p.Gly1055=) c.2685C>G (p.Gly895=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977362G= | CA2034476390 | COL2A1 | c.3024C= (p.Gly1008=) c.3231C= (p.Gly1077=) n.2317C= n.84C= c.3375C= (p.Gly1125=) c.3372C= (p.Gly1124=) c.2319C= (p.Gly773=) c.3165C= (p.Gly1055=) c.2685C= (p.Gly895=) | |
12 | g.47977362G>T | CA479453808 | COL2A1 | c.3024C>A (p.Gly1008=) c.3231C>A (p.Gly1077=) n.2317C>A n.84C>A c.3375C>A (p.Gly1125=) c.3372C>A (p.Gly1124=) c.2319C>A (p.Gly773=) c.3165C>A (p.Gly1055=) c.2685C>A (p.Gly895=) | |
12 | g.47977370_47977378dup | CA605231647 | COL2A1 | c.3016_3024dup (p.Gly1008_Pro1009insSerProGly) c.3223_3231dup (p.Gly1077_Pro1078insSerProGly) n.2309_2317dup n.76_84dup c.3367_3375dup (p.Gly1125_Pro1126insSerProGly) c.3364_3372dup (p.Gly1124_Pro1125insSerProGly) c.2311_2319dup (p.Gly773_Pro774insSerProGly) c.3157_3165dup (p.Gly1055_Pro1056insSerProGly) c.2677_2685dup (p.Gly895_Pro896insSerProGly) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977363C>A | CA235882 | COL2A1 | c.3023G>T (p.Gly1008Val) c.3230G>T (p.Gly1077Val) n.2316G>T n.83G>T c.3374G>T (p.Gly1125Val) c.3371G>T (p.Gly1124Val) c.2318G>T (p.Gly773Val) c.3164G>T (p.Gly1055Val) c.2684G>T (p.Gly895Val) | ClinVar dbSNP |
12 | g.47977363C= | CA2034476391 | COL2A1 | c.3023G= (p.Gly1008=) c.3230G= (p.Gly1077=) n.2316G= n.83G= c.3374G= (p.Gly1125=) c.3371G= (p.Gly1124=) c.2318G= (p.Gly773=) c.3164G= (p.Gly1055=) c.2684G= (p.Gly895=) | |
12 | g.47977363C>G | CA384540227 | COL2A1 | c.3023G>C (p.Gly1008Ala) c.3230G>C (p.Gly1077Ala) n.2316G>C n.83G>C c.3374G>C (p.Gly1125Ala) c.3371G>C (p.Gly1124Ala) c.2318G>C (p.Gly773Ala) c.3164G>C (p.Gly1055Ala) c.2684G>C (p.Gly895Ala) | |
12 | g.47977363C>T | CA384540230 | COL2A1 | c.3023G>A (p.Gly1008Asp) c.3230G>A (p.Gly1077Asp) n.2316G>A n.83G>A c.3374G>A (p.Gly1125Asp) c.3371G>A (p.Gly1124Asp) c.2318G>A (p.Gly773Asp) c.3164G>A (p.Gly1055Asp) c.2684G>A (p.Gly895Asp) | COSMIC COSMIC |
12 | g.47977364C>A | CA384540238 | COL2A1 | c.3022G>T (p.Gly1008Cys) c.3229G>T (p.Gly1077Cys) n.2315G>T n.82G>T c.3373G>T (p.Gly1125Cys) c.3370G>T (p.Gly1124Cys) c.2317G>T (p.Gly773Cys) c.3163G>T (p.Gly1055Cys) c.2683G>T (p.Gly895Cys) | |
12 | g.47977364C>G | CA384540236 | COL2A1 | c.3022G>C (p.Gly1008Arg) c.3229G>C (p.Gly1077Arg) n.2315G>C n.82G>C c.3373G>C (p.Gly1125Arg) c.3370G>C (p.Gly1124Arg) c.2317G>C (p.Gly773Arg) c.3163G>C (p.Gly1055Arg) c.2683G>C (p.Gly895Arg) | |
12 | g.47977364C>T | CA384540234 | COL2A1 | c.3022G>A (p.Gly1008Ser) c.3229G>A (p.Gly1077Ser) n.2315G>A n.82G>A c.3373G>A (p.Gly1125Ser) c.3370G>A (p.Gly1124Ser) c.2317G>A (p.Gly773Ser) c.3163G>A (p.Gly1055Ser) c.2683G>A (p.Gly895Ser) | |
12 | g.47977365del | CA2695216638 | COL2A1 | c.3021del (p.Gly1008AlafsTer?) c.3228del (p.Gly1077AlafsTer?) n.2314del n.81del c.3372del (p.Gly1125AlafsTer?) c.3369del (p.Gly1124AlafsTer?) c.2316del (p.Gly773AlafsTer?) c.3162del (p.Gly1055AlafsTer?) c.2682del (p.Gly895AlafsTer?) | |
12 | g.47977365A= | CA2034476392 | COL2A1 | c.3021T= (p.Pro1007=) c.3228T= (p.Pro1076=) n.2314T= n.81T= c.3372T= (p.Pro1124=) c.3369T= (p.Pro1123=) c.2316T= (p.Pro772=) c.3162T= (p.Pro1054=) c.2682T= (p.Pro894=) | |
12 | g.47977365A>C | CA479453818 | COL2A1 | c.3021T>G (p.Pro1007=) c.3228T>G (p.Pro1076=) n.2314T>G n.81T>G c.3372T>G (p.Pro1124=) c.3369T>G (p.Pro1123=) c.2316T>G (p.Pro772=) c.3162T>G (p.Pro1054=) c.2682T>G (p.Pro894=) | |
12 | g.47977365A>G | CA6534833 | COL2A1 | c.3021T>C (p.Pro1007=) c.3228T>C (p.Pro1076=) n.2314T>C n.81T>C c.3372T>C (p.Pro1124=) c.3369T>C (p.Pro1123=) c.2316T>C (p.Pro772=) c.3162T>C (p.Pro1054=) c.2682T>C (p.Pro894=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47977365A>T | CA479453821 | COL2A1 | c.3021T>A (p.Pro1007=) c.3228T>A (p.Pro1076=) n.2314T>A n.81T>A c.3372T>A (p.Pro1124=) c.3369T>A (p.Pro1123=) c.2316T>A (p.Pro772=) c.3162T>A (p.Pro1054=) c.2682T>A (p.Pro894=) | |
12 | g.47977366G>A | CA6534834 | COL2A1 | c.3020C>T (p.Pro1007Leu) c.3227C>T (p.Pro1076Leu) n.2313C>T n.80C>T c.3371C>T (p.Pro1124Leu) c.3368C>T (p.Pro1123Leu) c.2315C>T (p.Pro772Leu) c.3161C>T (p.Pro1054Leu) c.2681C>T (p.Pro894Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977366G>C | CA384540244 | COL2A1 | c.3020C>G (p.Pro1007Arg) c.3227C>G (p.Pro1076Arg) n.2313C>G n.80C>G c.3371C>G (p.Pro1124Arg) c.3368C>G (p.Pro1123Arg) c.2315C>G (p.Pro772Arg) c.3161C>G (p.Pro1054Arg) c.2681C>G (p.Pro894Arg) | |
12 | g.47977366G= | CA2034476393 | COL2A1 | c.3020C= (p.Pro1007=) c.3227C= (p.Pro1076=) n.2313C= n.80C= c.3371C= (p.Pro1124=) c.3368C= (p.Pro1123=) c.2315C= (p.Pro772=) c.3161C= (p.Pro1054=) c.2681C= (p.Pro894=) | |
12 | g.47977366G>T | CA384540247 | COL2A1 | c.3020C>A (p.Pro1007His) c.3227C>A (p.Pro1076His) n.2313C>A n.80C>A c.3371C>A (p.Pro1124His) c.3368C>A (p.Pro1123His) c.2315C>A (p.Pro772His) c.3161C>A (p.Pro1054His) c.2681C>A (p.Pro894His) | |
12 | g.47977369dup | CA2839358227 | COL2A1 | c.3020dup (p.Gly1008TrpfsTer?) c.3227dup (p.Gly1077TrpfsTer?) n.2313dup n.80dup c.3371dup (p.Gly1125TrpfsTer?) c.3368dup (p.Gly1124TrpfsTer?) c.2315dup (p.Gly773TrpfsTer?) c.3161dup (p.Gly1055TrpfsTer?) c.2681dup (p.Gly895TrpfsTer?) | |
12 | g.47977369del | CA2580085491 | COL2A1 | c.3020del (p.Pro1007LeufsTer?) c.3227del (p.Pro1076LeufsTer?) n.2313del n.80del c.3371del (p.Pro1124LeufsTer?) c.3368del (p.Pro1123LeufsTer?) c.2315del (p.Pro772LeufsTer?) c.3161del (p.Pro1054LeufsTer?) c.2681del (p.Pro894LeufsTer?) | ClinVar gnomAD v4 |
12 | g.47977367G>A | CA384540251 | COL2A1 | c.3019C>T (p.Pro1007Ser) c.3226C>T (p.Pro1076Ser) n.2312C>T n.79C>T c.3370C>T (p.Pro1124Ser) c.3367C>T (p.Pro1123Ser) c.2314C>T (p.Pro772Ser) c.3160C>T (p.Pro1054Ser) c.2680C>T (p.Pro894Ser) | |
12 | g.47977367G>C | CA384540253 | COL2A1 | c.3019C>G (p.Pro1007Ala) c.3226C>G (p.Pro1076Ala) n.2312C>G n.79C>G c.3370C>G (p.Pro1124Ala) c.3367C>G (p.Pro1123Ala) c.2314C>G (p.Pro772Ala) c.3160C>G (p.Pro1054Ala) c.2680C>G (p.Pro894Ala) | |
12 | g.47977367G>T | CA384540255 | COL2A1 | c.3019C>A (p.Pro1007Thr) c.3226C>A (p.Pro1076Thr) n.2312C>A n.79C>A c.3370C>A (p.Pro1124Thr) c.3367C>A (p.Pro1123Thr) c.2314C>A (p.Pro772Thr) c.3160C>A (p.Pro1054Thr) c.2680C>A (p.Pro894Thr) | |
12 | g.47977368G>A | CA479453832 | COL2A1 | c.3018C>T (p.Ser1006=) c.3225C>T (p.Ser1075=) n.2311C>T n.78C>T c.3369C>T (p.Ser1123=) c.3366C>T (p.Ser1122=) c.2313C>T (p.Ser771=) c.3159C>T (p.Ser1053=) c.2679C>T (p.Ser893=) | gnomAD v4 |
12 | g.47977368G>C | CA479453829 | COL2A1 | c.3018C>G (p.Ser1006=) c.3225C>G (p.Ser1075=) n.2311C>G n.78C>G c.3369C>G (p.Ser1123=) c.3366C>G (p.Ser1122=) c.2313C>G (p.Ser771=) c.3159C>G (p.Ser1053=) c.2679C>G (p.Ser893=) | |
12 | g.47977368G>T | CA479453831 | COL2A1 | c.3018C>A (p.Ser1006=) c.3225C>A (p.Ser1075=) n.2311C>A n.78C>A c.3369C>A (p.Ser1123=) c.3366C>A (p.Ser1122=) c.2313C>A (p.Ser771=) c.3159C>A (p.Ser1053=) c.2679C>A (p.Ser893=) | |
12 | g.47977369G>A | CA384540260 | COL2A1 | c.3017C>T (p.Ser1006Phe) c.3224C>T (p.Ser1075Phe) n.2310C>T n.77C>T c.3368C>T (p.Ser1123Phe) c.3365C>T (p.Ser1122Phe) c.2312C>T (p.Ser771Phe) c.3158C>T (p.Ser1053Phe) c.2678C>T (p.Ser893Phe) | COSMIC COSMIC |
12 | g.47977369G>C | CA384540262 | COL2A1 | c.3017C>G (p.Ser1006Cys) c.3224C>G (p.Ser1075Cys) n.2310C>G n.77C>G c.3368C>G (p.Ser1123Cys) c.3365C>G (p.Ser1122Cys) c.2312C>G (p.Ser771Cys) c.3158C>G (p.Ser1053Cys) c.2678C>G (p.Ser893Cys) | |
12 | g.47977369G= | CA2034476394 | COL2A1 | c.3017C= (p.Ser1006=) c.3224C= (p.Ser1075=) n.2310C= n.77C= c.3368C= (p.Ser1123=) c.3365C= (p.Ser1122=) c.2312C= (p.Ser771=) c.3158C= (p.Ser1053=) c.2678C= (p.Ser893=) | |
12 | g.47977369G>T | CA6534835 | COL2A1 | c.3017C>A (p.Ser1006Tyr) c.3224C>A (p.Ser1075Tyr) n.2310C>A n.77C>A c.3368C>A (p.Ser1123Tyr) c.3365C>A (p.Ser1122Tyr) c.2312C>A (p.Ser771Tyr) c.3158C>A (p.Ser1053Tyr) c.2678C>A (p.Ser893Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47977370A>C | CA384540264 | COL2A1 | c.3016T>G (p.Ser1006Ala) c.3223T>G (p.Ser1075Ala) n.2309T>G n.76T>G c.3367T>G (p.Ser1123Ala) c.3364T>G (p.Ser1122Ala) c.2311T>G (p.Ser771Ala) c.3157T>G (p.Ser1053Ala) c.2677T>G (p.Ser893Ala) | |
12 | g.47977370A>G | CA384540267 | COL2A1 | c.3016T>C (p.Ser1006Pro) c.3223T>C (p.Ser1075Pro) n.2309T>C n.76T>C c.3367T>C (p.Ser1123Pro) c.3364T>C (p.Ser1122Pro) c.2311T>C (p.Ser771Pro) c.3157T>C (p.Ser1053Pro) c.2677T>C (p.Ser893Pro) | |
12 | g.47977370A>T | CA384540270 | COL2A1 | c.3016T>A (p.Ser1006Thr) c.3223T>A (p.Ser1075Thr) n.2309T>A n.76T>A c.3367T>A (p.Ser1123Thr) c.3364T>A (p.Ser1122Thr) c.2311T>A (p.Ser771Thr) c.3157T>A (p.Ser1053Thr) c.2677T>A (p.Ser893Thr) | |
12 | g.47977371G>A | CA479453845 | COL2A1 | c.3015C>T (p.Gly1005=) c.3222C>T (p.Gly1074=) n.2308C>T n.75C>T c.3366C>T (p.Gly1122=) c.3363C>T (p.Gly1121=) c.2310C>T (p.Gly770=) c.3156C>T (p.Gly1052=) c.2676C>T (p.Gly892=) | gnomAD v4 |
12 | g.47977371G>C | CA6534836 | COL2A1 | c.3015C>G (p.Gly1005=) c.3222C>G (p.Gly1074=) n.2308C>G n.75C>G c.3366C>G (p.Gly1122=) c.3363C>G (p.Gly1121=) c.2310C>G (p.Gly770=) c.3156C>G (p.Gly1052=) c.2676C>G (p.Gly892=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977371G= | CA2034476395 | COL2A1 | c.3015C= (p.Gly1005=) c.3222C= (p.Gly1074=) n.2308C= n.75C= c.3366C= (p.Gly1122=) c.3363C= (p.Gly1121=) c.2310C= (p.Gly770=) c.3156C= (p.Gly1052=) c.2676C= (p.Gly892=) | |
12 | g.47977371G>T | CA479453842 | COL2A1 | c.3015C>A (p.Gly1005=) c.3222C>A (p.Gly1074=) n.2308C>A n.75C>A c.3366C>A (p.Gly1122=) c.3363C>A (p.Gly1121=) c.2310C>A (p.Gly770=) c.3156C>A (p.Gly1052=) c.2676C>A (p.Gly892=) | ClinVar dbSNP gnomAD v4 |
12 | g.47977372C>A | CA384540279 | COL2A1 | c.3014G>T (p.Gly1005Val) c.3221G>T (p.Gly1074Val) n.2307G>T n.74G>T c.3365G>T (p.Gly1122Val) c.3362G>T (p.Gly1121Val) c.2309G>T (p.Gly770Val) c.3155G>T (p.Gly1052Val) c.2675G>T (p.Gly892Val) | |
12 | g.47977372C>G | CA384540280 | COL2A1 | c.3014G>C (p.Gly1005Ala) c.3221G>C (p.Gly1074Ala) n.2307G>C n.74G>C c.3365G>C (p.Gly1122Ala) c.3362G>C (p.Gly1121Ala) c.2309G>C (p.Gly770Ala) c.3155G>C (p.Gly1052Ala) c.2675G>C (p.Gly892Ala) | |
12 | g.47977372C>T | CA384540281 | COL2A1 | c.3014G>A (p.Gly1005Asp) c.3221G>A (p.Gly1074Asp) n.2307G>A n.74G>A c.3365G>A (p.Gly1122Asp) c.3362G>A (p.Gly1121Asp) c.2309G>A (p.Gly770Asp) c.3155G>A (p.Gly1052Asp) c.2675G>A (p.Gly892Asp) | |
12 | g.47977373C>A | CA384540282 | COL2A1 | c.3013G>T (p.Gly1005Cys) c.3220G>T (p.Gly1074Cys) n.2306G>T n.73G>T c.3364G>T (p.Gly1122Cys) c.3361G>T (p.Gly1121Cys) c.2308G>T (p.Gly770Cys) c.3154G>T (p.Gly1052Cys) c.2674G>T (p.Gly892Cys) | |
12 | g.47977373C= | CA2034476396 | COL2A1 | c.3013G= (p.Gly1005=) c.3220G= (p.Gly1074=) n.2306G= n.73G= c.3364G= (p.Gly1122=) c.3361G= (p.Gly1121=) c.2308G= (p.Gly770=) c.3154G= (p.Gly1052=) c.2674G= (p.Gly892=) | |
12 | g.47977373C>G | CA384540283 | COL2A1 | c.3013G>C (p.Gly1005Arg) c.3220G>C (p.Gly1074Arg) n.2306G>C n.73G>C c.3364G>C (p.Gly1122Arg) c.3361G>C (p.Gly1121Arg) c.2308G>C (p.Gly770Arg) c.3154G>C (p.Gly1052Arg) c.2674G>C (p.Gly892Arg) | |
12 | g.47977373C>T | CA250663 | COL2A1 | c.3013G>A (p.Gly1005Ser) c.3220G>A (p.Gly1074Ser) n.2306G>A n.73G>A c.3364G>A (p.Gly1122Ser) c.3361G>A (p.Gly1121Ser) c.2308G>A (p.Gly770Ser) c.3154G>A (p.Gly1052Ser) c.2674G>A (p.Gly892Ser) | ClinVar dbSNP |
12 | g.47977374del | CA2573148620 | COL2A1 | c.3012del (p.Gly1005AlafsTer?) c.3219del (p.Gly1074AlafsTer?) n.2305del n.72del c.3363del (p.Gly1122AlafsTer?) c.3360del (p.Gly1121AlafsTer?) c.2307del (p.Gly770AlafsTer?) c.3153del (p.Gly1052AlafsTer?) c.2673del (p.Gly892AlafsTer?) | ClinVar dbSNP |
12 | g.47977374A= | CA2034476397 | COL2A1 | c.3012T= (p.Pro1004=) c.3219T= (p.Pro1073=) n.2305T= n.72T= c.3363T= (p.Pro1121=) c.3360T= (p.Pro1120=) c.2307T= (p.Pro769=) c.3153T= (p.Pro1051=) c.2673T= (p.Pro891=) | |
12 | g.47977374A>C | CA479453856 | COL2A1 | c.3012T>G (p.Pro1004=) c.3219T>G (p.Pro1073=) n.2305T>G n.72T>G c.3363T>G (p.Pro1121=) c.3360T>G (p.Pro1120=) c.2307T>G (p.Pro769=) c.3153T>G (p.Pro1051=) c.2673T>G (p.Pro891=) | |
12 | g.47977374A>G | CA479453859 | COL2A1 | c.3012T>C (p.Pro1004=) c.3219T>C (p.Pro1073=) n.2305T>C n.72T>C c.3363T>C (p.Pro1121=) c.3360T>C (p.Pro1120=) c.2307T>C (p.Pro769=) c.3153T>C (p.Pro1051=) c.2673T>C (p.Pro891=) | |
12 | g.47977374A>T | CA479453857 | COL2A1 | c.3012T>A (p.Pro1004=) c.3219T>A (p.Pro1073=) n.2305T>A n.72T>A c.3363T>A (p.Pro1121=) c.3360T>A (p.Pro1120=) c.2307T>A (p.Pro769=) c.3153T>A (p.Pro1051=) c.2673T>A (p.Pro891=) | dbSNP |
12 | g.47977375G>A | CA384540286 | COL2A1 | c.3011C>T (p.Pro1004Leu) c.3218C>T (p.Pro1073Leu) n.2304C>T n.71C>T c.3362C>T (p.Pro1121Leu) c.3359C>T (p.Pro1120Leu) c.2306C>T (p.Pro769Leu) c.3152C>T (p.Pro1051Leu) c.2672C>T (p.Pro891Leu) | gnomAD v4 |
12 | g.47977375G>C | CA384540289 | COL2A1 | c.3011C>G (p.Pro1004Arg) c.3218C>G (p.Pro1073Arg) n.2304C>G n.71C>G c.3362C>G (p.Pro1121Arg) c.3359C>G (p.Pro1120Arg) c.2306C>G (p.Pro769Arg) c.3152C>G (p.Pro1051Arg) c.2672C>G (p.Pro891Arg) | |
12 | g.47977375G>T | CA384540292 | COL2A1 | c.3011C>A (p.Pro1004His) c.3218C>A (p.Pro1073His) n.2304C>A n.71C>A c.3362C>A (p.Pro1121His) c.3359C>A (p.Pro1120His) c.2306C>A (p.Pro769His) c.3152C>A (p.Pro1051His) c.2672C>A (p.Pro891His) | |
12 | g.47977379dup | CA2795864044 | COL2A1 | c.3011dup (p.Gly1005TrpfsTer?) c.3218dup (p.Gly1074TrpfsTer?) n.2304dup n.71dup c.3362dup (p.Gly1122TrpfsTer?) c.3359dup (p.Gly1121TrpfsTer?) c.2306dup (p.Gly770TrpfsTer?) c.3152dup (p.Gly1052TrpfsTer?) c.2672dup (p.Gly892TrpfsTer?) | |
12 | g.47977379del | CA2618511821 | COL2A1 | c.3011del (p.Pro1004LeufsTer?) c.3218del (p.Pro1073LeufsTer?) n.2304del n.71del c.3362del (p.Pro1121LeufsTer?) c.3359del (p.Pro1120LeufsTer?) c.2306del (p.Pro769LeufsTer?) c.3152del (p.Pro1051LeufsTer?) c.2672del (p.Pro891LeufsTer?) | gnomAD v4 |
12 | g.47977376G>A | CA384540295 | COL2A1 | c.3010C>T (p.Pro1004Ser) c.3217C>T (p.Pro1073Ser) n.2303C>T n.70C>T c.3361C>T (p.Pro1121Ser) c.3358C>T (p.Pro1120Ser) c.2305C>T (p.Pro769Ser) c.3151C>T (p.Pro1051Ser) c.2671C>T (p.Pro891Ser) | gnomAD v4 COSMIC COSMIC |
12 | g.47977376G>C | CA384540299 | COL2A1 | c.3010C>G (p.Pro1004Ala) c.3217C>G (p.Pro1073Ala) n.2303C>G n.70C>G c.3361C>G (p.Pro1121Ala) c.3358C>G (p.Pro1120Ala) c.2305C>G (p.Pro769Ala) c.3151C>G (p.Pro1051Ala) c.2671C>G (p.Pro891Ala) | |
12 | g.47977376G>T | CA384540297 | COL2A1 | c.3010C>A (p.Pro1004Thr) c.3217C>A (p.Pro1073Thr) n.2303C>A n.70C>A c.3361C>A (p.Pro1121Thr) c.3358C>A (p.Pro1120Thr) c.2305C>A (p.Pro769Thr) c.3151C>A (p.Pro1051Thr) c.2671C>A (p.Pro891Thr) | |
12 | g.47977381_47977388dup | CA2697559180 | COL2A1 | c.3003_3010dup (p.Pro1004LeufsTer?) c.3210_3217dup (p.Pro1073LeufsTer?) n.2296_2303dup n.63_70dup c.3354_3361dup (p.Pro1121LeufsTer?) c.3351_3358dup (p.Pro1120LeufsTer?) c.2298_2305dup (p.Pro769LeufsTer?) c.3144_3151dup (p.Pro1051LeufsTer?) c.2664_2671dup (p.Pro891LeufsTer?) | ClinVar |
12 | g.47977381_47977388del | CA2575137864 | COL2A1 | c.3003_3010del (p.Gly1002TrpfsTer?) c.3210_3217del (p.Gly1071TrpfsTer?) n.2296_2303del n.63_70del c.3354_3361del (p.Gly1119TrpfsTer?) c.3351_3358del (p.Gly1118TrpfsTer?) c.2298_2305del (p.Gly767TrpfsTer?) c.3144_3151del (p.Gly1049TrpfsTer?) c.2664_2671del (p.Gly889TrpfsTer?) | |
12 | g.47977377G>A | CA479453869 | COL2A1 | c.3009C>T (p.Pro1003=) c.3216C>T (p.Pro1072=) n.2302C>T n.69C>T c.3360C>T (p.Pro1120=) c.3357C>T (p.Pro1119=) c.2304C>T (p.Pro768=) c.3150C>T (p.Pro1050=) c.2670C>T (p.Pro890=) | |
12 | g.47977377G>C | CA479453871 | COL2A1 | c.3009C>G (p.Pro1003=) c.3216C>G (p.Pro1072=) n.2302C>G n.69C>G c.3360C>G (p.Pro1120=) c.3357C>G (p.Pro1119=) c.2304C>G (p.Pro768=) c.3150C>G (p.Pro1050=) c.2670C>G (p.Pro890=) | gnomAD v4 |
12 | g.47977377G>T | CA479453874 | COL2A1 | c.3009C>A (p.Pro1003=) c.3216C>A (p.Pro1072=) n.2302C>A n.69C>A c.3360C>A (p.Pro1120=) c.3357C>A (p.Pro1119=) c.2304C>A (p.Pro768=) c.3150C>A (p.Pro1050=) c.2670C>A (p.Pro890=) | |
12 | g.47977378G>A | CA384540301 | COL2A1 | c.3008C>T (p.Pro1003Leu) c.3215C>T (p.Pro1072Leu) n.2301C>T n.68C>T c.3359C>T (p.Pro1120Leu) c.3356C>T (p.Pro1119Leu) c.2303C>T (p.Pro768Leu) c.3149C>T (p.Pro1050Leu) c.2669C>T (p.Pro890Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977378G>C | CA384540304 | COL2A1 | c.3008C>G (p.Pro1003Arg) c.3215C>G (p.Pro1072Arg) n.2301C>G n.68C>G c.3359C>G (p.Pro1120Arg) c.3356C>G (p.Pro1119Arg) c.2303C>G (p.Pro768Arg) c.3149C>G (p.Pro1050Arg) c.2669C>G (p.Pro890Arg) | |
12 | g.47977378G= | CA2034476398 | COL2A1 | c.3008C= (p.Pro1003=) c.3215C= (p.Pro1072=) n.2301C= n.68C= c.3359C= (p.Pro1120=) c.3356C= (p.Pro1119=) c.2303C= (p.Pro768=) c.3149C= (p.Pro1050=) c.2669C= (p.Pro890=) | |
12 | g.47977378G>T | CA384540307 | COL2A1 | c.3008C>A (p.Pro1003His) c.3215C>A (p.Pro1072His) n.2301C>A n.68C>A c.3359C>A (p.Pro1120His) c.3356C>A (p.Pro1119His) c.2303C>A (p.Pro768His) c.3149C>A (p.Pro1050His) c.2669C>A (p.Pro890His) | ClinVar dbSNP gnomAD v4 |
12 | g.47977379G>A | CA384540309 | COL2A1 | c.3007C>T (p.Pro1003Ser) c.3214C>T (p.Pro1072Ser) n.2300C>T n.67C>T c.3358C>T (p.Pro1120Ser) c.3355C>T (p.Pro1119Ser) c.2302C>T (p.Pro768Ser) c.3148C>T (p.Pro1050Ser) c.2668C>T (p.Pro890Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977379G>C | CA236520985 | COL2A1 | c.3007C>G (p.Pro1003Ala) c.3214C>G (p.Pro1072Ala) n.2300C>G n.67C>G c.3358C>G (p.Pro1120Ala) c.3355C>G (p.Pro1119Ala) c.2302C>G (p.Pro768Ala) c.3148C>G (p.Pro1050Ala) c.2668C>G (p.Pro890Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977379G= | CA2034476399 | COL2A1 | c.3007C= (p.Pro1003=) c.3214C= (p.Pro1072=) n.2300C= n.67C= c.3358C= (p.Pro1120=) c.3355C= (p.Pro1119=) c.2302C= (p.Pro768=) c.3148C= (p.Pro1050=) c.2668C= (p.Pro890=) | |
12 | g.47977379G>T | CA384540312 | COL2A1 | c.3007C>A (p.Pro1003Thr) c.3214C>A (p.Pro1072Thr) n.2300C>A n.67C>A c.3358C>A (p.Pro1120Thr) c.3355C>A (p.Pro1119Thr) c.2302C>A (p.Pro768Thr) c.3148C>A (p.Pro1050Thr) c.2668C>A (p.Pro890Thr) | gnomAD v4 |
12 | g.47977379_47977380del | CA2795864053 | COL2A1 | c.3006_3007del (p.Pro1004TrpfsTer?) c.3213_3214del (p.Pro1073TrpfsTer?) n.2299_2300del n.66_67del c.3357_3358del (p.Pro1121TrpfsTer?) c.3354_3355del (p.Pro1120TrpfsTer?) c.2301_2302del (p.Pro769TrpfsTer?) c.3147_3148del (p.Pro1051TrpfsTer?) c.2667_2668del (p.Pro891TrpfsTer?) | |
12 | g.47977380C>A | CA479453884 | COL2A1 | c.3006G>T (p.Gly1002=) c.3213G>T (p.Gly1071=) n.2299G>T n.66G>T c.3357G>T (p.Gly1119=) c.3354G>T (p.Gly1118=) c.2301G>T (p.Gly767=) c.3147G>T (p.Gly1049=) c.2667G>T (p.Gly889=) | gnomAD v4 |
12 | g.47977380C= | CA2034476400 | COL2A1 | c.3006G= (p.Gly1002=) c.3213G= (p.Gly1071=) n.2299G= n.66G= c.3357G= (p.Gly1119=) c.3354G= (p.Gly1118=) c.2301G= (p.Gly767=) c.3147G= (p.Gly1049=) c.2667G= (p.Gly889=) | |
12 | g.47977380C>G | CA479453885 | COL2A1 | c.3006G>C (p.Gly1002=) c.3213G>C (p.Gly1071=) n.2299G>C n.66G>C c.3357G>C (p.Gly1119=) c.3354G>C (p.Gly1118=) c.2301G>C (p.Gly767=) c.3147G>C (p.Gly1049=) c.2667G>C (p.Gly889=) | |
12 | g.47977380C>T | CA479453888 | COL2A1 | c.3006G>A (p.Gly1002=) c.3213G>A (p.Gly1071=) n.2299G>A n.66G>A c.3357G>A (p.Gly1119=) c.3354G>A (p.Gly1118=) c.2301G>A (p.Gly767=) c.3147G>A (p.Gly1049=) c.2667G>A (p.Gly889=) | ClinVar dbSNP gnomAD v4 |
12 | g.47977381C>A | CA384540316 | COL2A1 | c.3005G>T (p.Gly1002Val) c.3212G>T (p.Gly1071Val) n.2298G>T n.65G>T c.3356G>T (p.Gly1119Val) c.3353G>T (p.Gly1118Val) c.2300G>T (p.Gly767Val) c.3146G>T (p.Gly1049Val) c.2666G>T (p.Gly889Val) | |
12 | g.47977381C>G | CA384540319 | COL2A1 | c.3005G>C (p.Gly1002Ala) c.3212G>C (p.Gly1071Ala) n.2298G>C n.65G>C c.3356G>C (p.Gly1119Ala) c.3353G>C (p.Gly1118Ala) c.2300G>C (p.Gly767Ala) c.3146G>C (p.Gly1049Ala) c.2666G>C (p.Gly889Ala) | |
12 | g.47977381C>T | CA384540320 | COL2A1 | c.3005G>A (p.Gly1002Glu) c.3212G>A (p.Gly1071Glu) n.2298G>A n.65G>A c.3356G>A (p.Gly1119Glu) c.3353G>A (p.Gly1118Glu) c.2300G>A (p.Gly767Glu) c.3146G>A (p.Gly1049Glu) c.2666G>A (p.Gly889Glu) | ClinVar dbSNP |
12 | g.47977382C>A | CA384540324 | COL2A1 | c.3004G>T (p.Gly1002Trp) c.3211G>T (p.Gly1071Trp) n.2297G>T n.64G>T c.3355G>T (p.Gly1119Trp) c.3352G>T (p.Gly1118Trp) c.2299G>T (p.Gly767Trp) c.3145G>T (p.Gly1049Trp) c.2665G>T (p.Gly889Trp) | |
12 | g.47977382C>G | CA384540325 | COL2A1 | c.3004G>C (p.Gly1002Arg) c.3211G>C (p.Gly1071Arg) n.2297G>C n.64G>C c.3355G>C (p.Gly1119Arg) c.3352G>C (p.Gly1118Arg) c.2299G>C (p.Gly767Arg) c.3145G>C (p.Gly1049Arg) c.2665G>C (p.Gly889Arg) | |
12 | g.47977382C>T | CA384540328 | COL2A1 | c.3004G>A (p.Gly1002Arg) c.3211G>A (p.Gly1071Arg) n.2297G>A n.64G>A c.3355G>A (p.Gly1119Arg) c.3352G>A (p.Gly1118Arg) c.2299G>A (p.Gly767Arg) c.3145G>A (p.Gly1049Arg) c.2665G>A (p.Gly889Arg) | |
12 | g.47977383A>C | CA479453896 | COL2A1 | c.3003T>G (p.Pro1001=) c.3210T>G (p.Pro1070=) n.2296T>G n.63T>G c.3354T>G (p.Pro1118=) c.3351T>G (p.Pro1117=) c.2298T>G (p.Pro766=) c.3144T>G (p.Pro1048=) c.2664T>G (p.Pro888=) | |
12 | g.47977383A>G | CA479453899 | COL2A1 | c.3003T>C (p.Pro1001=) c.3210T>C (p.Pro1070=) n.2296T>C n.63T>C c.3354T>C (p.Pro1118=) c.3351T>C (p.Pro1117=) c.2298T>C (p.Pro766=) c.3144T>C (p.Pro1048=) c.2664T>C (p.Pro888=) | |
12 | g.47977383A>T | CA479453900 | COL2A1 | c.3003T>A (p.Pro1001=) c.3210T>A (p.Pro1070=) n.2296T>A n.63T>A c.3354T>A (p.Pro1118=) c.3351T>A (p.Pro1117=) c.2298T>A (p.Pro766=) c.3144T>A (p.Pro1048=) c.2664T>A (p.Pro888=) | |
12 | g.47977384G>A | CA384540338 | COL2A1 | c.3002C>T (p.Pro1001Leu) c.3209C>T (p.Pro1070Leu) n.2295C>T n.62C>T c.3353C>T (p.Pro1118Leu) c.3350C>T (p.Pro1117Leu) c.2297C>T (p.Pro766Leu) c.3143C>T (p.Pro1048Leu) c.2663C>T (p.Pro888Leu) | |
12 | g.47977384G>C | CA384540340 | COL2A1 | c.3002C>G (p.Pro1001Arg) c.3209C>G (p.Pro1070Arg) n.2295C>G n.62C>G c.3353C>G (p.Pro1118Arg) c.3350C>G (p.Pro1117Arg) c.2297C>G (p.Pro766Arg) c.3143C>G (p.Pro1048Arg) c.2663C>G (p.Pro888Arg) | gnomAD v4 |
12 | g.47977384G= | CA2034476401 | COL2A1 | c.3002C= (p.Pro1001=) c.3209C= (p.Pro1070=) n.2295C= n.62C= c.3353C= (p.Pro1118=) c.3350C= (p.Pro1117=) c.2297C= (p.Pro766=) c.3143C= (p.Pro1048=) c.2663C= (p.Pro888=) | |
12 | g.47977384G>T | CA6534837 | COL2A1 | c.3002C>A (p.Pro1001His) c.3209C>A (p.Pro1070His) n.2295C>A n.62C>A c.3353C>A (p.Pro1118His) c.3350C>A (p.Pro1117His) c.2297C>A (p.Pro766His) c.3143C>A (p.Pro1048His) c.2663C>A (p.Pro888His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47977387dup | CA2840841050 | COL2A1 | c.3002dup (p.Gly1002TrpfsTer?) c.3209dup (p.Gly1071TrpfsTer?) n.2295dup n.62dup c.3353dup (p.Gly1119TrpfsTer?) c.3350dup (p.Gly1118TrpfsTer?) c.2297dup (p.Gly767TrpfsTer?) c.3143dup (p.Gly1049TrpfsTer?) c.2663dup (p.Gly889TrpfsTer?) | |
12 | g.47977385G>A | CA384540345 | COL2A1 | c.3001C>T (p.Pro1001Ser) c.3208C>T (p.Pro1070Ser) n.2294C>T n.61C>T c.3352C>T (p.Pro1118Ser) c.3349C>T (p.Pro1117Ser) c.2296C>T (p.Pro766Ser) c.3142C>T (p.Pro1048Ser) c.2662C>T (p.Pro888Ser) | gnomAD v4 |
12 | g.47977385G>C | CA384540348 | COL2A1 | c.3001C>G (p.Pro1001Ala) c.3208C>G (p.Pro1070Ala) n.2294C>G n.61C>G c.3352C>G (p.Pro1118Ala) c.3349C>G (p.Pro1117Ala) c.2296C>G (p.Pro766Ala) c.3142C>G (p.Pro1048Ala) c.2662C>G (p.Pro888Ala) | |
12 | g.47977385G>T | CA384540350 | COL2A1 | c.3001C>A (p.Pro1001Thr) c.3208C>A (p.Pro1070Thr) n.2294C>A n.61C>A c.3352C>A (p.Pro1118Thr) c.3349C>A (p.Pro1117Thr) c.2296C>A (p.Pro766Thr) c.3142C>A (p.Pro1048Thr) c.2662C>A (p.Pro888Thr) | |
12 | g.47977386G>A | CA479453918 | COL2A1 | c.3000C>T (p.Ala1000=) c.3207C>T (p.Ala1069=) n.2293C>T n.60C>T c.3351C>T (p.Ala1117=) c.3348C>T (p.Ala1116=) c.2295C>T (p.Ala765=) c.3141C>T (p.Ala1047=) c.2661C>T (p.Ala887=) | |
12 | g.47977386G>C | CA6534838 | COL2A1 | c.3000C>G (p.Ala1000=) c.3207C>G (p.Ala1069=) n.2293C>G n.60C>G c.3351C>G (p.Ala1117=) c.3348C>G (p.Ala1116=) c.2295C>G (p.Ala765=) c.3141C>G (p.Ala1047=) c.2661C>G (p.Ala887=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977386G= | CA2034476402 | COL2A1 | c.3000C= (p.Ala1000=) c.3207C= (p.Ala1069=) n.2293C= n.60C= c.3351C= (p.Ala1117=) c.3348C= (p.Ala1116=) c.2295C= (p.Ala765=) c.3141C= (p.Ala1047=) c.2661C= (p.Ala887=) | |
12 | g.47977386G>T | CA479453921 | COL2A1 | c.3000C>A (p.Ala1000=) c.3207C>A (p.Ala1069=) n.2293C>A n.60C>A c.3351C>A (p.Ala1117=) c.3348C>A (p.Ala1116=) c.2295C>A (p.Ala765=) c.3141C>A (p.Ala1047=) c.2661C>A (p.Ala887=) | gnomAD v4 |
12 | g.47977387G>A | CA236520989 | COL2A1 | c.2999C>T (p.Ala1000Val) c.3206C>T (p.Ala1069Val) n.2292C>T n.59C>T c.3350C>T (p.Ala1117Val) c.3347C>T (p.Ala1116Val) c.2294C>T (p.Ala765Val) c.3140C>T (p.Ala1047Val) c.2660C>T (p.Ala887Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47977387G>C | CA384540358 | COL2A1 | c.2999C>G (p.Ala1000Gly) c.3206C>G (p.Ala1069Gly) n.2292C>G n.59C>G c.3350C>G (p.Ala1117Gly) c.3347C>G (p.Ala1116Gly) c.2294C>G (p.Ala765Gly) c.3140C>G (p.Ala1047Gly) c.2660C>G (p.Ala887Gly) | |
12 | g.47977387G= | CA2034476403 | COL2A1 | c.2999C= (p.Ala1000=) c.3206C= (p.Ala1069=) n.2292C= n.59C= c.3350C= (p.Ala1117=) c.3347C= (p.Ala1116=) c.2294C= (p.Ala765=) c.3140C= (p.Ala1047=) c.2660C= (p.Ala887=) | |
12 | g.47977387G>T | CA6534839 | COL2A1 | c.2999C>A (p.Ala1000Asp) c.3206C>A (p.Ala1069Asp) n.2292C>A n.59C>A c.3350C>A (p.Ala1117Asp) c.3347C>A (p.Ala1116Asp) c.2294C>A (p.Ala765Asp) c.3140C>A (p.Ala1047Asp) c.2660C>A (p.Ala887Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977392_47977400del | CA2695216639 | COL2A1 | c.2991_2999del (p.Pro998_Ala1000del) c.3198_3206del (p.Pro1067_Ala1069del) n.2284_2292del n.51_59del c.3342_3350del (p.Pro1115_Ala1117del) c.3339_3347del (p.Pro1114_Ala1116del) c.2286_2294del (p.Pro763_Ala765del) c.3132_3140del (p.Pro1045_Ala1047del) c.2652_2660del (p.Pro885_Ala887del) | |
12 | g.47977388C>A | CA384540363 | COL2A1 | c.2998G>T (p.Ala1000Ser) c.3205G>T (p.Ala1069Ser) n.2291G>T n.58G>T c.3349G>T (p.Ala1117Ser) c.3346G>T (p.Ala1116Ser) c.2293G>T (p.Ala765Ser) c.3139G>T (p.Ala1047Ser) c.2659G>T (p.Ala887Ser) | |
12 | g.47977388C= | CA2034476404 | COL2A1 | c.2998G= (p.Ala1000=) c.3205G= (p.Ala1069=) n.2291G= n.58G= c.3349G= (p.Ala1117=) c.3346G= (p.Ala1116=) c.2293G= (p.Ala765=) c.3139G= (p.Ala1047=) c.2659G= (p.Ala887=) | |
12 | g.47977388C>G | CA6534840 | COL2A1 | c.2998G>C (p.Ala1000Pro) c.3205G>C (p.Ala1069Pro) n.2291G>C n.58G>C c.3349G>C (p.Ala1117Pro) c.3346G>C (p.Ala1116Pro) c.2293G>C (p.Ala765Pro) c.3139G>C (p.Ala1047Pro) c.2659G>C (p.Ala887Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977388C>T | CA6534841 | COL2A1 | c.2998G>A (p.Ala1000Thr) c.3205G>A (p.Ala1069Thr) n.2291G>A n.58G>A c.3349G>A (p.Ala1117Thr) c.3346G>A (p.Ala1116Thr) c.2293G>A (p.Ala765Thr) c.3139G>A (p.Ala1047Thr) c.2659G>A (p.Ala887Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.47977389T>A | CA479453933 | COL2A1 | c.2997A>T (p.Gly999=) c.3204A>T (p.Gly1068=) n.2290A>T n.57A>T c.3348A>T (p.Gly1116=) c.3345A>T (p.Gly1115=) c.2292A>T (p.Gly764=) c.3138A>T (p.Gly1046=) c.2658A>T (p.Gly886=) | |
12 | g.47977389T>C | CA479453936 | COL2A1 | c.2997A>G (p.Gly999=) c.3204A>G (p.Gly1068=) n.2290A>G n.57A>G c.3348A>G (p.Gly1116=) c.3345A>G (p.Gly1115=) c.2292A>G (p.Gly764=) c.3138A>G (p.Gly1046=) c.2658A>G (p.Gly886=) | |
12 | g.47977389T>G | CA479453938 | COL2A1 | c.2997A>C (p.Gly999=) c.3204A>C (p.Gly1068=) n.2290A>C n.57A>C c.3348A>C (p.Gly1116=) c.3345A>C (p.Gly1115=) c.2292A>C (p.Gly764=) c.3138A>C (p.Gly1046=) c.2658A>C (p.Gly886=) | |
12 | g.47977390C>A | CA384540375 | COL2A1 | c.2996G>T (p.Gly999Val) c.3203G>T (p.Gly1068Val) n.2289G>T n.56G>T c.3347G>T (p.Gly1116Val) c.3344G>T (p.Gly1115Val) c.2291G>T (p.Gly764Val) c.3137G>T (p.Gly1046Val) c.2657G>T (p.Gly886Val) | |
12 | g.47977390C= | CA2034476405 | COL2A1 | c.2996G= (p.Gly999=) c.3203G= (p.Gly1068=) n.2289G= n.56G= c.3347G= (p.Gly1116=) c.3344G= (p.Gly1115=) c.2291G= (p.Gly764=) c.3137G= (p.Gly1046=) c.2657G= (p.Gly886=) | |
12 | g.47977390C>G | CA384540376 | COL2A1 | c.2996G>C (p.Gly999Ala) c.3203G>C (p.Gly1068Ala) n.2289G>C n.56G>C c.3347G>C (p.Gly1116Ala) c.3344G>C (p.Gly1115Ala) c.2291G>C (p.Gly764Ala) c.3137G>C (p.Gly1046Ala) c.2657G>C (p.Gly886Ala) | |
12 | g.47977390C>T | CA384540378 | COL2A1 | c.2996G>A (p.Gly999Glu) c.3203G>A (p.Gly1068Glu) n.2289G>A n.56G>A c.3347G>A (p.Gly1116Glu) c.3344G>A (p.Gly1115Glu) c.2291G>A (p.Gly764Glu) c.3137G>A (p.Gly1046Glu) c.2657G>A (p.Gly886Glu) | ClinVar dbSNP |