Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33164832_33164841del | CA824029745 | COL11A2 | n.669+18_669+27del c.4863+18_4863+27del (n.4863+18_4863+27del) c.4542+18_4542+27del (n.4542+18_4542+27del) c.4605+18_4605+27del (n.4605+18_4605+27del) n.653+18_653+27del c.4017+18_4017+27del (n.4017+18_4017+27del) c.4149+18_4149+27del (n.4149+18_4149+27del) c.3969+18_3969+27del (n.3969+18_3969+27del) c.3906+18_3906+27del (n.3906+18_3906+27del) c.3750+18_3750+27del (n.3750+18_3750+27del) c.3681+18_3681+27del (n.3681+18_3681+27del) | dbSNP |
6 | g.33164841C>A | CA2678226902 | COL11A2 | n.669+11G>T c.4863+11G>T (n.4863+11G>T) c.4542+11G>T (n.4542+11G>T) c.4605+11G>T (n.4605+11G>T) n.653+11G>T c.4017+11G>T (n.4017+11G>T) c.4149+11G>T (n.4149+11G>T) c.3969+11G>T (n.3969+11G>T) c.3906+11G>T (n.3906+11G>T) c.3750+11G>T (n.3750+11G>T) c.3681+11G>T (n.3681+11G>T) | ClinVar gnomAD v4 |
6 | g.33164841C= | CA1619890381 | COL11A2 | n.669+11G= c.4863+11G= (n.4863+11G=) c.4542+11G= (n.4542+11G=) c.4605+11G= (n.4605+11G=) n.653+11G= c.4017+11G= (n.4017+11G=) c.4149+11G= (n.4149+11G=) c.3969+11G= (n.3969+11G=) c.3906+11G= (n.3906+11G=) c.3750+11G= (n.3750+11G=) c.3681+11G= (n.3681+11G=) | |
6 | g.33164841C>G | CA2711194876 | COL11A2 | n.669+11G>C c.4863+11G>C (n.4863+11G>C) c.4542+11G>C (n.4542+11G>C) c.4605+11G>C (n.4605+11G>C) n.653+11G>C c.4017+11G>C (n.4017+11G>C) c.4149+11G>C (n.4149+11G>C) c.3969+11G>C (n.3969+11G>C) c.3906+11G>C (n.3906+11G>C) c.3750+11G>C (n.3750+11G>C) c.3681+11G>C (n.3681+11G>C) | dbSNP |
6 | g.33164841C>T | CA1087647725 | COL11A2 | n.669+11G>A c.4863+11G>A (n.4863+11G>A) c.4542+11G>A (n.4542+11G>A) c.4605+11G>A (n.4605+11G>A) n.653+11G>A c.4017+11G>A (n.4017+11G>A) c.4149+11G>A (n.4149+11G>A) c.3969+11G>A (n.3969+11G>A) c.3906+11G>A (n.3906+11G>A) c.3750+11G>A (n.3750+11G>A) c.3681+11G>A (n.3681+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164842C>A | CA2678226903 | COL11A2 | n.669+10G>T c.4863+10G>T (n.4863+10G>T) c.4542+10G>T (n.4542+10G>T) c.4605+10G>T (n.4605+10G>T) n.653+10G>T c.4017+10G>T (n.4017+10G>T) c.4149+10G>T (n.4149+10G>T) c.3969+10G>T (n.3969+10G>T) c.3906+10G>T (n.3906+10G>T) c.3750+10G>T (n.3750+10G>T) c.3681+10G>T (n.3681+10G>T) | gnomAD v4 |
6 | g.33164842C>T | CA2678226904 | COL11A2 | n.669+10G>A c.4863+10G>A (n.4863+10G>A) c.4542+10G>A (n.4542+10G>A) c.4605+10G>A (n.4605+10G>A) n.653+10G>A c.4017+10G>A (n.4017+10G>A) c.4149+10G>A (n.4149+10G>A) c.3969+10G>A (n.3969+10G>A) c.3906+10G>A (n.3906+10G>A) c.3750+10G>A (n.3750+10G>A) c.3681+10G>A (n.3681+10G>A) | gnomAD v4 |
6 | g.33164844G>T | CA2678226905 | COL11A2 | n.669+8C>A c.4863+8C>A (n.4863+8C>A) c.4542+8C>A (n.4542+8C>A) c.4605+8C>A (n.4605+8C>A) n.653+8C>A c.4017+8C>A (n.4017+8C>A) c.4149+8C>A (n.4149+8C>A) c.3969+8C>A (n.3969+8C>A) c.3906+8C>A (n.3906+8C>A) c.3750+8C>A (n.3750+8C>A) c.3681+8C>A (n.3681+8C>A) | gnomAD v4 |
6 | g.33164845C>A | CA2678226906 | COL11A2 | n.669+7G>T c.4863+7G>T (n.4863+7G>T) c.4542+7G>T (n.4542+7G>T) c.4605+7G>T (n.4605+7G>T) n.653+7G>T c.4017+7G>T (n.4017+7G>T) c.4149+7G>T (n.4149+7G>T) c.3969+7G>T (n.3969+7G>T) c.3906+7G>T (n.3906+7G>T) c.3750+7G>T (n.3750+7G>T) c.3681+7G>T (n.3681+7G>T) | gnomAD v4 |
6 | g.33164845C= | CA1619890385 | COL11A2 | n.669+7G= c.4863+7G= (n.4863+7G=) c.4542+7G= (n.4542+7G=) c.4605+7G= (n.4605+7G=) n.653+7G= c.4017+7G= (n.4017+7G=) c.4149+7G= (n.4149+7G=) c.3969+7G= (n.3969+7G=) c.3906+7G= (n.3906+7G=) c.3750+7G= (n.3750+7G=) c.3681+7G= (n.3681+7G=) | |
6 | g.33164845C>G | CA2594850938 | COL11A2 | n.669+7G>C c.4863+7G>C (n.4863+7G>C) c.4542+7G>C (n.4542+7G>C) c.4605+7G>C (n.4605+7G>C) n.653+7G>C c.4017+7G>C (n.4017+7G>C) c.4149+7G>C (n.4149+7G>C) c.3969+7G>C (n.3969+7G>C) c.3906+7G>C (n.3906+7G>C) c.3750+7G>C (n.3750+7G>C) c.3681+7G>C (n.3681+7G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164845C>T | CA183322 | COL11A2 | n.669+7G>A c.4863+7G>A (n.4863+7G>A) c.4542+7G>A (n.4542+7G>A) c.4605+7G>A (n.4605+7G>A) n.653+7G>A c.4017+7G>A (n.4017+7G>A) c.4149+7G>A (n.4149+7G>A) c.3969+7G>A (n.3969+7G>A) c.3906+7G>A (n.3906+7G>A) c.3750+7G>A (n.3750+7G>A) c.3681+7G>A (n.3681+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164847C>A | CA2678226907 | COL11A2 | n.669+5G>T c.4863+5G>T (n.4863+5G>T) c.4542+5G>T (n.4542+5G>T) c.4605+5G>T (n.4605+5G>T) n.653+5G>T c.4017+5G>T (n.4017+5G>T) c.4149+5G>T (n.4149+5G>T) c.3969+5G>T (n.3969+5G>T) c.3906+5G>T (n.3906+5G>T) c.3750+5G>T (n.3750+5G>T) c.3681+5G>T (n.3681+5G>T) | gnomAD v4 |
6 | g.33164847C= | CA1619890393 | COL11A2 | n.669+5G= c.4863+5G= (n.4863+5G=) c.4542+5G= (n.4542+5G=) c.4605+5G= (n.4605+5G=) n.653+5G= c.4017+5G= (n.4017+5G=) c.4149+5G= (n.4149+5G=) c.3969+5G= (n.3969+5G=) c.3906+5G= (n.3906+5G=) c.3750+5G= (n.3750+5G=) c.3681+5G= (n.3681+5G=) | |
6 | g.33164847C>G | CA566424987 | COL11A2 | n.669+5G>C c.4863+5G>C (n.4863+5G>C) c.4542+5G>C (n.4542+5G>C) c.4605+5G>C (n.4605+5G>C) n.653+5G>C c.4017+5G>C (n.4017+5G>C) c.4149+5G>C (n.4149+5G>C) c.3969+5G>C (n.3969+5G>C) c.3906+5G>C (n.3906+5G>C) c.3750+5G>C (n.3750+5G>C) c.3681+5G>C (n.3681+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164847C>T | CA2770563331 | COL11A2 | n.669+5G>A c.4863+5G>A (n.4863+5G>A) c.4542+5G>A (n.4542+5G>A) c.4605+5G>A (n.4605+5G>A) n.653+5G>A c.4017+5G>A (n.4017+5G>A) c.4149+5G>A (n.4149+5G>A) c.3969+5G>A (n.3969+5G>A) c.3906+5G>A (n.3906+5G>A) c.3750+5G>A (n.3750+5G>A) c.3681+5G>A (n.3681+5G>A) | |
6 | g.33164849C>A | CA2678226908 | COL11A2 | n.669+3G>T c.4863+3G>T (n.4863+3G>T) c.4542+3G>T (n.4542+3G>T) c.4605+3G>T (n.4605+3G>T) n.653+3G>T c.4017+3G>T (n.4017+3G>T) c.4149+3G>T (n.4149+3G>T) c.3969+3G>T (n.3969+3G>T) c.3906+3G>T (n.3906+3G>T) c.3750+3G>T (n.3750+3G>T) c.3681+3G>T (n.3681+3G>T) | gnomAD v4 |
6 | g.33164849C= | CA1619890395 | COL11A2 | n.669+3G= c.4863+3G= (n.4863+3G=) c.4542+3G= (n.4542+3G=) c.4605+3G= (n.4605+3G=) n.653+3G= c.4017+3G= (n.4017+3G=) c.4149+3G= (n.4149+3G=) c.3969+3G= (n.3969+3G=) c.3906+3G= (n.3906+3G=) c.3750+3G= (n.3750+3G=) c.3681+3G= (n.3681+3G=) | |
6 | g.33164849C>T | CA3749984 | COL11A2 | n.669+3G>A c.4863+3G>A (n.4863+3G>A) c.4542+3G>A (n.4542+3G>A) c.4605+3G>A (n.4605+3G>A) n.653+3G>A c.4017+3G>A (n.4017+3G>A) c.4149+3G>A (n.4149+3G>A) c.3969+3G>A (n.3969+3G>A) c.3906+3G>A (n.3906+3G>A) c.3750+3G>A (n.3750+3G>A) c.3681+3G>A (n.3681+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164850A>C | CA363617349 | COL11A2 | n.669+2T>G c.4863+2T>G (n.4863+2T>G) c.4542+2T>G (n.4542+2T>G) c.4605+2T>G (n.4605+2T>G) n.653+2T>G c.4017+2T>G (n.4017+2T>G) c.4149+2T>G (n.4149+2T>G) c.3969+2T>G (n.3969+2T>G) c.3906+2T>G (n.3906+2T>G) c.3750+2T>G (n.3750+2T>G) c.3681+2T>G (n.3681+2T>G) | |
6 | g.33164850A>G | CA363617352 | COL11A2 | n.669+2T>C c.4863+2T>C (n.4863+2T>C) c.4542+2T>C (n.4542+2T>C) c.4605+2T>C (n.4605+2T>C) n.653+2T>C c.4017+2T>C (n.4017+2T>C) c.4149+2T>C (n.4149+2T>C) c.3969+2T>C (n.3969+2T>C) c.3906+2T>C (n.3906+2T>C) c.3750+2T>C (n.3750+2T>C) c.3681+2T>C (n.3681+2T>C) | |
6 | g.33164850A>T | CA363617350 | COL11A2 | n.669+2T>A c.4863+2T>A (n.4863+2T>A) c.4542+2T>A (n.4542+2T>A) c.4605+2T>A (n.4605+2T>A) n.653+2T>A c.4017+2T>A (n.4017+2T>A) c.4149+2T>A (n.4149+2T>A) c.3969+2T>A (n.3969+2T>A) c.3906+2T>A (n.3906+2T>A) c.3750+2T>A (n.3750+2T>A) c.3681+2T>A (n.3681+2T>A) | |
6 | g.33164851C>A | CA363617355 | COL11A2 | n.669+1G>T c.4863+1G>T (n.4863+1G>T) c.4542+1G>T (n.4542+1G>T) c.4605+1G>T (n.4605+1G>T) n.653+1G>T c.4017+1G>T (n.4017+1G>T) c.4149+1G>T (n.4149+1G>T) c.3969+1G>T (n.3969+1G>T) c.3906+1G>T (n.3906+1G>T) c.3750+1G>T (n.3750+1G>T) c.3681+1G>T (n.3681+1G>T) | gnomAD v4 |
6 | g.33164851C= | CA1619890400 | COL11A2 | n.669+1G= c.4863+1G= (n.4863+1G=) c.4542+1G= (n.4542+1G=) c.4605+1G= (n.4605+1G=) n.653+1G= c.4017+1G= (n.4017+1G=) c.4149+1G= (n.4149+1G=) c.3969+1G= (n.3969+1G=) c.3906+1G= (n.3906+1G=) c.3750+1G= (n.3750+1G=) c.3681+1G= (n.3681+1G=) | |
6 | g.33164851C>G | CA363617356 | COL11A2 | n.669+1G>C c.4863+1G>C (n.4863+1G>C) c.4542+1G>C (n.4542+1G>C) c.4605+1G>C (n.4605+1G>C) n.653+1G>C c.4017+1G>C (n.4017+1G>C) c.4149+1G>C (n.4149+1G>C) c.3969+1G>C (n.3969+1G>C) c.3906+1G>C (n.3906+1G>C) c.3750+1G>C (n.3750+1G>C) c.3681+1G>C (n.3681+1G>C) | |
6 | g.33164851C>T | CA363617359 | COL11A2 | n.669+1G>A c.4863+1G>A (n.4863+1G>A) c.4542+1G>A (n.4542+1G>A) c.4605+1G>A (n.4605+1G>A) n.653+1G>A c.4017+1G>A (n.4017+1G>A) c.4149+1G>A (n.4149+1G>A) c.3969+1G>A (n.3969+1G>A) c.3906+1G>A (n.3906+1G>A) c.3750+1G>A (n.3750+1G>A) c.3681+1G>A (n.3681+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164852C>A | CA363617361 | COL11A2 | n.669G>T c.4863G>T (p.Gln1621His) c.4542G>T (p.Gln1514His) c.4605G>T (p.Gln1535His) n.653G>T c.4017G>T (p.Gln1339His) c.4149G>T (p.Gln1383His) c.3969G>T (p.Gln1323His) c.3906G>T (p.Gln1302His) c.3750G>T (p.Gln1250His) c.3681G>T (p.Gln1227His) | gnomAD v4 |
6 | g.33164852C>G | CA363617363 | COL11A2 | n.669G>C c.4863G>C (p.Gln1621His) c.4542G>C (p.Gln1514His) c.4605G>C (p.Gln1535His) n.653G>C c.4017G>C (p.Gln1339His) c.4149G>C (p.Gln1383His) c.3969G>C (p.Gln1323His) c.3906G>C (p.Gln1302His) c.3750G>C (p.Gln1250His) c.3681G>C (p.Gln1227His) | |
6 | g.33164852C>T | CA449867219 | COL11A2 | n.669G>A c.4863G>A (p.Gln1621=) c.4542G>A (p.Gln1514=) c.4605G>A (p.Gln1535=) n.653G>A c.4017G>A (p.Gln1339=) c.4149G>A (p.Gln1383=) c.3969G>A (p.Gln1323=) c.3906G>A (p.Gln1302=) c.3750G>A (p.Gln1250=) c.3681G>A (p.Gln1227=) | |
6 | g.33164853T>A | CA363617365 | COL11A2 | n.668A>T c.4862A>T (p.Gln1621Leu) c.4541A>T (p.Gln1514Leu) c.4604A>T (p.Gln1535Leu) n.652A>T c.4016A>T (p.Gln1339Leu) c.4148A>T (p.Gln1383Leu) c.3968A>T (p.Gln1323Leu) c.3905A>T (p.Gln1302Leu) c.3749A>T (p.Gln1250Leu) c.3680A>T (p.Gln1227Leu) | |
6 | g.33164853T>C | CA363617367 | COL11A2 | n.668A>G c.4862A>G (p.Gln1621Arg) c.4541A>G (p.Gln1514Arg) c.4604A>G (p.Gln1535Arg) n.652A>G c.4016A>G (p.Gln1339Arg) c.4148A>G (p.Gln1383Arg) c.3968A>G (p.Gln1323Arg) c.3905A>G (p.Gln1302Arg) c.3749A>G (p.Gln1250Arg) c.3680A>G (p.Gln1227Arg) | ClinVar dbSNP |
6 | g.33164853T>G | CA363617369 | COL11A2 | n.668A>C c.4862A>C (p.Gln1621Pro) c.4541A>C (p.Gln1514Pro) c.4604A>C (p.Gln1535Pro) n.652A>C c.4016A>C (p.Gln1339Pro) c.4148A>C (p.Gln1383Pro) c.3968A>C (p.Gln1323Pro) c.3905A>C (p.Gln1302Pro) c.3749A>C (p.Gln1250Pro) c.3680A>C (p.Gln1227Pro) | |
6 | g.33164854G>A | CA363617370 | COL11A2 | n.667C>T c.4861C>T (p.Gln1621Ter) c.4540C>T (p.Gln1514Ter) c.4603C>T (p.Gln1535Ter) n.651C>T c.4015C>T (p.Gln1339Ter) c.4147C>T (p.Gln1383Ter) c.3967C>T (p.Gln1323Ter) c.3904C>T (p.Gln1302Ter) c.3748C>T (p.Gln1250Ter) c.3679C>T (p.Gln1227Ter) | |
6 | g.33164854G>C | CA363617372 | COL11A2 | n.667C>G c.4861C>G (p.Gln1621Glu) c.4540C>G (p.Gln1514Glu) c.4603C>G (p.Gln1535Glu) n.651C>G c.4015C>G (p.Gln1339Glu) c.4147C>G (p.Gln1383Glu) c.3967C>G (p.Gln1323Glu) c.3904C>G (p.Gln1302Glu) c.3748C>G (p.Gln1250Glu) c.3679C>G (p.Gln1227Glu) | |
6 | g.33164854G>T | CA363617374 | COL11A2 | n.667C>A c.4861C>A (p.Gln1621Lys) c.4540C>A (p.Gln1514Lys) c.4603C>A (p.Gln1535Lys) n.651C>A c.4015C>A (p.Gln1339Lys) c.4147C>A (p.Gln1383Lys) c.3967C>A (p.Gln1323Lys) c.3904C>A (p.Gln1302Lys) c.3748C>A (p.Gln1250Lys) c.3679C>A (p.Gln1227Lys) | gnomAD v4 |
6 | g.33164855C>A | CA449867223 | COL11A2 | n.666G>T c.4860G>T (p.Thr1620=) c.4539G>T (p.Thr1513=) c.4602G>T (p.Thr1534=) n.650G>T c.4014G>T (p.Thr1338=) c.4146G>T (p.Thr1382=) c.3966G>T (p.Thr1322=) c.3903G>T (p.Thr1301=) c.3747G>T (p.Thr1249=) c.3678G>T (p.Thr1226=) | dbSNP gnomAD v4 |
6 | g.33164855C= | CA1619890404 | COL11A2 | n.666G= c.4860G= (p.Thr1620=) c.4539G= (p.Thr1513=) c.4602G= (p.Thr1534=) n.650G= c.4014G= (p.Thr1338=) c.4146G= (p.Thr1382=) c.3966G= (p.Thr1322=) c.3903G= (p.Thr1301=) c.3747G= (p.Thr1249=) c.3678G= (p.Thr1226=) | |
6 | g.33164855C>G | CA449867224 | COL11A2 | n.666G>C c.4860G>C (p.Thr1620=) c.4539G>C (p.Thr1513=) c.4602G>C (p.Thr1534=) n.650G>C c.4014G>C (p.Thr1338=) c.4146G>C (p.Thr1382=) c.3966G>C (p.Thr1322=) c.3903G>C (p.Thr1301=) c.3747G>C (p.Thr1249=) c.3678G>C (p.Thr1226=) | |
6 | g.33164855C>T | CA3749985 | COL11A2 | n.666G>A c.4860G>A (p.Thr1620=) c.4539G>A (p.Thr1513=) c.4602G>A (p.Thr1534=) n.650G>A c.4014G>A (p.Thr1338=) c.4146G>A (p.Thr1382=) c.3966G>A (p.Thr1322=) c.3903G>A (p.Thr1301=) c.3747G>A (p.Thr1249=) c.3678G>A (p.Thr1226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164856G>A | CA3749986 | COL11A2 | n.665C>T c.4859C>T (p.Thr1620Met) c.4538C>T (p.Thr1513Met) c.4601C>T (p.Thr1534Met) n.649C>T c.4013C>T (p.Thr1338Met) c.4145C>T (p.Thr1382Met) c.3965C>T (p.Thr1322Met) c.3902C>T (p.Thr1301Met) c.3746C>T (p.Thr1249Met) c.3677C>T (p.Thr1226Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164856G>C | CA363617377 | COL11A2 | n.665C>G c.4859C>G (p.Thr1620Arg) c.4538C>G (p.Thr1513Arg) c.4601C>G (p.Thr1534Arg) n.649C>G c.4013C>G (p.Thr1338Arg) c.4145C>G (p.Thr1382Arg) c.3965C>G (p.Thr1322Arg) c.3902C>G (p.Thr1301Arg) c.3746C>G (p.Thr1249Arg) c.3677C>G (p.Thr1226Arg) | |
6 | g.33164856G= | CA1619890409 | COL11A2 | n.665C= c.4859C= (p.Thr1620=) c.4538C= (p.Thr1513=) c.4601C= (p.Thr1534=) n.649C= c.4013C= (p.Thr1338=) c.4145C= (p.Thr1382=) c.3965C= (p.Thr1322=) c.3902C= (p.Thr1301=) c.3746C= (p.Thr1249=) c.3677C= (p.Thr1226=) | |
6 | g.33164856G>T | CA363617380 | COL11A2 | n.665C>A c.4859C>A (p.Thr1620Lys) c.4538C>A (p.Thr1513Lys) c.4601C>A (p.Thr1534Lys) n.649C>A c.4013C>A (p.Thr1338Lys) c.4145C>A (p.Thr1382Lys) c.3965C>A (p.Thr1322Lys) c.3902C>A (p.Thr1301Lys) c.3746C>A (p.Thr1249Lys) c.3677C>A (p.Thr1226Lys) | dbSNP gnomAD v4 |
6 | g.33164857T>A | CA363617382 | COL11A2 | n.664A>T c.4858A>T (p.Thr1620Ser) c.4537A>T (p.Thr1513Ser) c.4600A>T (p.Thr1534Ser) n.648A>T c.4012A>T (p.Thr1338Ser) c.4144A>T (p.Thr1382Ser) c.3964A>T (p.Thr1322Ser) c.3901A>T (p.Thr1301Ser) c.3745A>T (p.Thr1249Ser) c.3676A>T (p.Thr1226Ser) | |
6 | g.33164857T>C | CA363617383 | COL11A2 | n.664A>G c.4858A>G (p.Thr1620Ala) c.4537A>G (p.Thr1513Ala) c.4600A>G (p.Thr1534Ala) n.648A>G c.4012A>G (p.Thr1338Ala) c.4144A>G (p.Thr1382Ala) c.3964A>G (p.Thr1322Ala) c.3901A>G (p.Thr1301Ala) c.3745A>G (p.Thr1249Ala) c.3676A>G (p.Thr1226Ala) | |
6 | g.33164857T>G | CA363617385 | COL11A2 | n.664A>C c.4858A>C (p.Thr1620Pro) c.4537A>C (p.Thr1513Pro) c.4600A>C (p.Thr1534Pro) n.648A>C c.4012A>C (p.Thr1338Pro) c.4144A>C (p.Thr1382Pro) c.3964A>C (p.Thr1322Pro) c.3901A>C (p.Thr1301Pro) c.3745A>C (p.Thr1249Pro) c.3676A>C (p.Thr1226Pro) | |
6 | g.33164858G>A | CA449867229 | COL11A2 | n.663C>T c.4857C>T (p.Val1619=) c.4536C>T (p.Val1512=) c.4599C>T (p.Val1533=) n.647C>T c.4011C>T (p.Val1337=) c.4143C>T (p.Val1381=) c.3963C>T (p.Val1321=) c.3900C>T (p.Val1300=) c.3744C>T (p.Val1248=) c.3675C>T (p.Val1225=) | |
6 | g.33164858G>C | CA449867231 | COL11A2 | n.663C>G c.4857C>G (p.Val1619=) c.4536C>G (p.Val1512=) c.4599C>G (p.Val1533=) n.647C>G c.4011C>G (p.Val1337=) c.4143C>G (p.Val1381=) c.3963C>G (p.Val1321=) c.3900C>G (p.Val1300=) c.3744C>G (p.Val1248=) c.3675C>G (p.Val1225=) | gnomAD v3 gnomAD v4 |
6 | g.33164858G>T | CA449867230 | COL11A2 | n.663C>A c.4857C>A (p.Val1619=) c.4536C>A (p.Val1512=) c.4599C>A (p.Val1533=) n.647C>A c.4011C>A (p.Val1337=) c.4143C>A (p.Val1381=) c.3963C>A (p.Val1321=) c.3900C>A (p.Val1300=) c.3744C>A (p.Val1248=) c.3675C>A (p.Val1225=) | |
6 | g.33164859A= | CA1619890415 | COL11A2 | n.662T= c.4856T= (p.Val1619=) c.4535T= (p.Val1512=) c.4598T= (p.Val1533=) n.646T= c.4010T= (p.Val1337=) c.4142T= (p.Val1381=) c.3962T= (p.Val1321=) c.3899T= (p.Val1300=) c.3743T= (p.Val1248=) c.3674T= (p.Val1225=) | |
6 | g.33164859A>C | CA363617391 | COL11A2 | n.662T>G c.4856T>G (p.Val1619Gly) c.4535T>G (p.Val1512Gly) c.4598T>G (p.Val1533Gly) n.646T>G c.4010T>G (p.Val1337Gly) c.4142T>G (p.Val1381Gly) c.3962T>G (p.Val1321Gly) c.3899T>G (p.Val1300Gly) c.3743T>G (p.Val1248Gly) c.3674T>G (p.Val1225Gly) | |
6 | g.33164859A>G | CA3749987 | COL11A2 | n.662T>C c.4856T>C (p.Val1619Ala) c.4535T>C (p.Val1512Ala) c.4598T>C (p.Val1533Ala) n.646T>C c.4010T>C (p.Val1337Ala) c.4142T>C (p.Val1381Ala) c.3962T>C (p.Val1321Ala) c.3899T>C (p.Val1300Ala) c.3743T>C (p.Val1248Ala) c.3674T>C (p.Val1225Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164859A>T | CA363617387 | COL11A2 | n.662T>A c.4856T>A (p.Val1619Asp) c.4535T>A (p.Val1512Asp) c.4598T>A (p.Val1533Asp) n.646T>A c.4010T>A (p.Val1337Asp) c.4142T>A (p.Val1381Asp) c.3962T>A (p.Val1321Asp) c.3899T>A (p.Val1300Asp) c.3743T>A (p.Val1248Asp) c.3674T>A (p.Val1225Asp) | dbSNP gnomAD v2 |
6 | g.33164860C>A | CA363617394 | COL11A2 | n.661G>T c.4855G>T (p.Val1619Phe) c.4534G>T (p.Val1512Phe) c.4597G>T (p.Val1533Phe) n.645G>T c.4009G>T (p.Val1337Phe) c.4141G>T (p.Val1381Phe) c.3961G>T (p.Val1321Phe) c.3898G>T (p.Val1300Phe) c.3742G>T (p.Val1248Phe) c.3673G>T (p.Val1225Phe) | |
6 | g.33164860C= | CA1619890421 | COL11A2 | n.661G= c.4855G= (p.Val1619=) c.4534G= (p.Val1512=) c.4597G= (p.Val1533=) n.645G= c.4009G= (p.Val1337=) c.4141G= (p.Val1381=) c.3961G= (p.Val1321=) c.3898G= (p.Val1300=) c.3742G= (p.Val1248=) c.3673G= (p.Val1225=) | |
6 | g.33164860C>G | CA363617395 | COL11A2 | n.661G>C c.4855G>C (p.Val1619Leu) c.4534G>C (p.Val1512Leu) c.4597G>C (p.Val1533Leu) n.645G>C c.4009G>C (p.Val1337Leu) c.4141G>C (p.Val1381Leu) c.3961G>C (p.Val1321Leu) c.3898G>C (p.Val1300Leu) c.3742G>C (p.Val1248Leu) c.3673G>C (p.Val1225Leu) | |
6 | g.33164860C>T | CA363617396 | COL11A2 | n.661G>A c.4855G>A (p.Val1619Ile) c.4534G>A (p.Val1512Ile) c.4597G>A (p.Val1533Ile) n.645G>A c.4009G>A (p.Val1337Ile) c.4141G>A (p.Val1381Ile) c.3961G>A (p.Val1321Ile) c.3898G>A (p.Val1300Ile) c.3742G>A (p.Val1248Ile) c.3673G>A (p.Val1225Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164861G>A | CA3749988 | COL11A2 | n.660C>T c.4854C>T (p.Asp1618=) c.4533C>T (p.Asp1511=) c.4596C>T (p.Asp1532=) n.644C>T c.4008C>T (p.Asp1336=) c.4140C>T (p.Asp1380=) c.3960C>T (p.Asp1320=) c.3897C>T (p.Asp1299=) c.3741C>T (p.Asp1247=) c.3672C>T (p.Asp1224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.33164861G>C | CA3749989 | COL11A2 | n.660C>G c.4854C>G (p.Asp1618Glu) c.4533C>G (p.Asp1511Glu) c.4596C>G (p.Asp1532Glu) n.644C>G c.4008C>G (p.Asp1336Glu) c.4140C>G (p.Asp1380Glu) c.3960C>G (p.Asp1320Glu) c.3897C>G (p.Asp1299Glu) c.3741C>G (p.Asp1247Glu) c.3672C>G (p.Asp1224Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.33164861G= | CA1619890425 | COL11A2 | n.660C= c.4854C= (p.Asp1618=) c.4533C= (p.Asp1511=) c.4596C= (p.Asp1532=) n.644C= c.4008C= (p.Asp1336=) c.4140C= (p.Asp1380=) c.3960C= (p.Asp1320=) c.3897C= (p.Asp1299=) c.3741C= (p.Asp1247=) c.3672C= (p.Asp1224=) | |
6 | g.33164861G>T | CA363617400 | COL11A2 | n.660C>A c.4854C>A (p.Asp1618Glu) c.4533C>A (p.Asp1511Glu) c.4596C>A (p.Asp1532Glu) n.644C>A c.4008C>A (p.Asp1336Glu) c.4140C>A (p.Asp1380Glu) c.3960C>A (p.Asp1320Glu) c.3897C>A (p.Asp1299Glu) c.3741C>A (p.Asp1247Glu) c.3672C>A (p.Asp1224Glu) | ClinVar |
6 | g.33164862T>A | CA363617401 | COL11A2 | n.659A>T c.4853A>T (p.Asp1618Val) c.4532A>T (p.Asp1511Val) c.4595A>T (p.Asp1532Val) n.643A>T c.4007A>T (p.Asp1336Val) c.4139A>T (p.Asp1380Val) c.3959A>T (p.Asp1320Val) c.3896A>T (p.Asp1299Val) c.3740A>T (p.Asp1247Val) c.3671A>T (p.Asp1224Val) | |
6 | g.33164862T>C | CA363617405 | COL11A2 | n.659A>G c.4853A>G (p.Asp1618Gly) c.4532A>G (p.Asp1511Gly) c.4595A>G (p.Asp1532Gly) n.643A>G c.4007A>G (p.Asp1336Gly) c.4139A>G (p.Asp1380Gly) c.3959A>G (p.Asp1320Gly) c.3896A>G (p.Asp1299Gly) c.3740A>G (p.Asp1247Gly) c.3671A>G (p.Asp1224Gly) | |
6 | g.33164862T>G | CA363617403 | COL11A2 | n.659A>C c.4853A>C (p.Asp1618Ala) c.4532A>C (p.Asp1511Ala) c.4595A>C (p.Asp1532Ala) n.643A>C c.4007A>C (p.Asp1336Ala) c.4139A>C (p.Asp1380Ala) c.3959A>C (p.Asp1320Ala) c.3896A>C (p.Asp1299Ala) c.3740A>C (p.Asp1247Ala) c.3671A>C (p.Asp1224Ala) | |
6 | g.33164862_33164866del | CA2770563340 | COL11A2 | n.655_659del c.4849_4853del (p.Asp1617ArgfsTer?) c.4528_4532del (p.Asp1510ArgfsTer?) c.4591_4595del (p.Asp1531ArgfsTer?) n.639_643del c.4003_4007del (p.Asp1335ArgfsTer?) c.4135_4139del (p.Asp1379ArgfsTer?) c.3955_3959del (p.Asp1319ArgfsTer?) c.3892_3896del (p.Asp1298ArgfsTer?) c.3736_3740del (p.Asp1246ArgfsTer?) c.3667_3671del (p.Asp1223ArgfsTer?) | |
6 | g.33164863C>A | CA363617406 | COL11A2 | n.658G>T c.4852G>T (p.Asp1618Tyr) c.4531G>T (p.Asp1511Tyr) c.4594G>T (p.Asp1532Tyr) n.642G>T c.4006G>T (p.Asp1336Tyr) c.4138G>T (p.Asp1380Tyr) c.3958G>T (p.Asp1320Tyr) c.3895G>T (p.Asp1299Tyr) c.3739G>T (p.Asp1247Tyr) c.3670G>T (p.Asp1224Tyr) | gnomAD v4 |
6 | g.33164863C>G | CA363617408 | COL11A2 | n.658G>C c.4852G>C (p.Asp1618His) c.4531G>C (p.Asp1511His) c.4594G>C (p.Asp1532His) n.642G>C c.4006G>C (p.Asp1336His) c.4138G>C (p.Asp1380His) c.3958G>C (p.Asp1320His) c.3895G>C (p.Asp1299His) c.3739G>C (p.Asp1247His) c.3670G>C (p.Asp1224His) | |
6 | g.33164863C>T | CA363617410 | COL11A2 | n.658G>A c.4852G>A (p.Asp1618Asn) c.4531G>A (p.Asp1511Asn) c.4594G>A (p.Asp1532Asn) n.642G>A c.4006G>A (p.Asp1336Asn) c.4138G>A (p.Asp1380Asn) c.3958G>A (p.Asp1320Asn) c.3895G>A (p.Asp1299Asn) c.3739G>A (p.Asp1247Asn) c.3670G>A (p.Asp1224Asn) | |
6 | g.33164864A>C | CA363617412 | COL11A2 | n.657T>G c.4851T>G (p.Asp1617Glu) c.4530T>G (p.Asp1510Glu) c.4593T>G (p.Asp1531Glu) n.641T>G c.4005T>G (p.Asp1335Glu) c.4137T>G (p.Asp1379Glu) c.3957T>G (p.Asp1319Glu) c.3894T>G (p.Asp1298Glu) c.3738T>G (p.Asp1246Glu) c.3669T>G (p.Asp1223Glu) | |
6 | g.33164864A>G | CA449867243 | COL11A2 | n.657T>C c.4851T>C (p.Asp1617=) c.4530T>C (p.Asp1510=) c.4593T>C (p.Asp1531=) n.641T>C c.4005T>C (p.Asp1335=) c.4137T>C (p.Asp1379=) c.3957T>C (p.Asp1319=) c.3894T>C (p.Asp1298=) c.3738T>C (p.Asp1246=) c.3669T>C (p.Asp1223=) | |
6 | g.33164864A>T | CA363617413 | COL11A2 | n.657T>A c.4851T>A (p.Asp1617Glu) c.4530T>A (p.Asp1510Glu) c.4593T>A (p.Asp1531Glu) n.641T>A c.4005T>A (p.Asp1335Glu) c.4137T>A (p.Asp1379Glu) c.3957T>A (p.Asp1319Glu) c.3894T>A (p.Asp1298Glu) c.3738T>A (p.Asp1246Glu) c.3669T>A (p.Asp1223Glu) | |
6 | g.33164865T>A | CA363617417 | COL11A2 | n.656A>T c.4850A>T (p.Asp1617Val) c.4529A>T (p.Asp1510Val) c.4592A>T (p.Asp1531Val) n.640A>T c.4004A>T (p.Asp1335Val) c.4136A>T (p.Asp1379Val) c.3956A>T (p.Asp1319Val) c.3893A>T (p.Asp1298Val) c.3737A>T (p.Asp1246Val) c.3668A>T (p.Asp1223Val) | |
6 | g.33164865T>C | CA363617419 | COL11A2 | n.656A>G c.4850A>G (p.Asp1617Gly) c.4529A>G (p.Asp1510Gly) c.4592A>G (p.Asp1531Gly) n.640A>G c.4004A>G (p.Asp1335Gly) c.4136A>G (p.Asp1379Gly) c.3956A>G (p.Asp1319Gly) c.3893A>G (p.Asp1298Gly) c.3737A>G (p.Asp1246Gly) c.3668A>G (p.Asp1223Gly) | |
6 | g.33164865T>G | CA363617420 | COL11A2 | n.656A>C c.4850A>C (p.Asp1617Ala) c.4529A>C (p.Asp1510Ala) c.4592A>C (p.Asp1531Ala) n.640A>C c.4004A>C (p.Asp1335Ala) c.4136A>C (p.Asp1379Ala) c.3956A>C (p.Asp1319Ala) c.3893A>C (p.Asp1298Ala) c.3737A>C (p.Asp1246Ala) c.3668A>C (p.Asp1223Ala) | |
6 | g.33164865_33164866delinsTC | CA1619890432 | COL11A2 | n.655_656delinsGA c.4849_4850delinsGA (p.Asp1617=) c.4528_4529delinsGA (p.Asp1510=) c.4591_4592delinsGA (p.Asp1531=) n.639_640delinsGA c.4003_4004delinsGA (p.Asp1335=) c.4135_4136delinsGA (p.Asp1379=) c.3955_3956delinsGA (p.Asp1319=) c.3892_3893delinsGA (p.Asp1298=) c.3736_3737delinsGA (p.Asp1246=) c.3667_3668delinsGA (p.Asp1223=) | |
6 | g.33164866C>A | CA363617422 | COL11A2 | n.655G>T c.4849G>T (p.Asp1617Tyr) c.4528G>T (p.Asp1510Tyr) c.4591G>T (p.Asp1531Tyr) n.639G>T c.4003G>T (p.Asp1335Tyr) c.4135G>T (p.Asp1379Tyr) c.3955G>T (p.Asp1319Tyr) c.3892G>T (p.Asp1298Tyr) c.3736G>T (p.Asp1246Tyr) c.3667G>T (p.Asp1223Tyr) | dbSNP gnomAD v4 |
6 | g.33164866C= | CA1619890436 | COL11A2 | n.655G= c.4849G= (p.Asp1617=) c.4528G= (p.Asp1510=) c.4591G= (p.Asp1531=) n.639G= c.4003G= (p.Asp1335=) c.4135G= (p.Asp1379=) c.3955G= (p.Asp1319=) c.3892G= (p.Asp1298=) c.3736G= (p.Asp1246=) c.3667G= (p.Asp1223=) | |
6 | g.33164866C>G | CA363617424 | COL11A2 | n.655G>C c.4849G>C (p.Asp1617His) c.4528G>C (p.Asp1510His) c.4591G>C (p.Asp1531His) n.639G>C c.4003G>C (p.Asp1335His) c.4135G>C (p.Asp1379His) c.3955G>C (p.Asp1319His) c.3892G>C (p.Asp1298His) c.3736G>C (p.Asp1246His) c.3667G>C (p.Asp1223His) | |
6 | g.33164866C>T | CA363617426 | COL11A2 | n.655G>A c.4849G>A (p.Asp1617Asn) c.4528G>A (p.Asp1510Asn) c.4591G>A (p.Asp1531Asn) n.639G>A c.4003G>A (p.Asp1335Asn) c.4135G>A (p.Asp1379Asn) c.3955G>A (p.Asp1319Asn) c.3892G>A (p.Asp1298Asn) c.3736G>A (p.Asp1246Asn) c.3667G>A (p.Asp1223Asn) | |
6 | g.33164868del | CA566424989 | COL11A2 | n.655del c.4849del (p.Asp1617MetfsTer?) c.4528del (p.Asp1510MetfsTer?) c.4591del (p.Asp1531MetfsTer?) n.639del c.4003del (p.Asp1335MetfsTer?) c.4135del (p.Asp1379MetfsTer?) c.3955del (p.Asp1319MetfsTer?) c.3892del (p.Asp1298MetfsTer?) c.3736del (p.Asp1246MetfsTer?) c.3667del (p.Asp1223MetfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164867C>A | CA363617430 | COL11A2 | n.654G>T c.4848G>T (p.Arg1616Ser) c.4527G>T (p.Arg1509Ser) c.4590G>T (p.Arg1530Ser) n.638G>T c.4002G>T (p.Arg1334Ser) c.4134G>T (p.Arg1378Ser) c.3954G>T (p.Arg1318Ser) c.3891G>T (p.Arg1297Ser) c.3735G>T (p.Arg1245Ser) c.3666G>T (p.Arg1222Ser) | gnomAD v4 |
6 | g.33164867C>G | CA363617428 | COL11A2 | n.654G>C c.4848G>C (p.Arg1616Ser) c.4527G>C (p.Arg1509Ser) c.4590G>C (p.Arg1530Ser) n.638G>C c.4002G>C (p.Arg1334Ser) c.4134G>C (p.Arg1378Ser) c.3954G>C (p.Arg1318Ser) c.3891G>C (p.Arg1297Ser) c.3735G>C (p.Arg1245Ser) c.3666G>C (p.Arg1222Ser) | |
6 | g.33164867C>T | CA449867248 | COL11A2 | n.654G>A c.4848G>A (p.Arg1616=) c.4527G>A (p.Arg1509=) c.4590G>A (p.Arg1530=) n.638G>A c.4002G>A (p.Arg1334=) c.4134G>A (p.Arg1378=) c.3954G>A (p.Arg1318=) c.3891G>A (p.Arg1297=) c.3735G>A (p.Arg1245=) c.3666G>A (p.Arg1222=) | |
6 | g.33164868C>A | CA363617432 | COL11A2 | n.653G>T c.4847G>T (p.Arg1616Met) c.4526G>T (p.Arg1509Met) c.4589G>T (p.Arg1530Met) n.637G>T c.4001G>T (p.Arg1334Met) c.4133G>T (p.Arg1378Met) c.3953G>T (p.Arg1318Met) c.3890G>T (p.Arg1297Met) c.3734G>T (p.Arg1245Met) c.3665G>T (p.Arg1222Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164868C= | CA1619890441 | COL11A2 | n.653G= c.4847G= (p.Arg1616=) c.4526G= (p.Arg1509=) c.4589G= (p.Arg1530=) n.637G= c.4001G= (p.Arg1334=) c.4133G= (p.Arg1378=) c.3953G= (p.Arg1318=) c.3890G= (p.Arg1297=) c.3734G= (p.Arg1245=) c.3665G= (p.Arg1222=) | |
6 | g.33164868C>G | CA363617436 | COL11A2 | n.653G>C c.4847G>C (p.Arg1616Thr) c.4526G>C (p.Arg1509Thr) c.4589G>C (p.Arg1530Thr) n.637G>C c.4001G>C (p.Arg1334Thr) c.4133G>C (p.Arg1378Thr) c.3953G>C (p.Arg1318Thr) c.3890G>C (p.Arg1297Thr) c.3734G>C (p.Arg1245Thr) c.3665G>C (p.Arg1222Thr) | |
6 | g.33164868C>T | CA363617434 | COL11A2 | n.653G>A c.4847G>A (p.Arg1616Lys) c.4526G>A (p.Arg1509Lys) c.4589G>A (p.Arg1530Lys) n.637G>A c.4001G>A (p.Arg1334Lys) c.4133G>A (p.Arg1378Lys) c.3953G>A (p.Arg1318Lys) c.3890G>A (p.Arg1297Lys) c.3734G>A (p.Arg1245Lys) c.3665G>A (p.Arg1222Lys) | ClinVar |
6 | g.33164869T>A | CA363617438 | COL11A2 | n.652A>T c.4846A>T (p.Arg1616Trp) c.4525A>T (p.Arg1509Trp) c.4588A>T (p.Arg1530Trp) n.636A>T c.4000A>T (p.Arg1334Trp) c.4132A>T (p.Arg1378Trp) c.3952A>T (p.Arg1318Trp) c.3889A>T (p.Arg1297Trp) c.3733A>T (p.Arg1245Trp) c.3664A>T (p.Arg1222Trp) | |
6 | g.33164869T>C | CA363617439 | COL11A2 | n.652A>G c.4846A>G (p.Arg1616Gly) c.4525A>G (p.Arg1509Gly) c.4588A>G (p.Arg1530Gly) n.636A>G c.4000A>G (p.Arg1334Gly) c.4132A>G (p.Arg1378Gly) c.3952A>G (p.Arg1318Gly) c.3889A>G (p.Arg1297Gly) c.3733A>G (p.Arg1245Gly) c.3664A>G (p.Arg1222Gly) | |
6 | g.33164869T>G | CA449867252 | COL11A2 | n.652A>C c.4846A>C (p.Arg1616=) c.4525A>C (p.Arg1509=) c.4588A>C (p.Arg1530=) n.636A>C c.4000A>C (p.Arg1334=) c.4132A>C (p.Arg1378=) c.3952A>C (p.Arg1318=) c.3889A>C (p.Arg1297=) c.3733A>C (p.Arg1245=) c.3664A>C (p.Arg1222=) | |
6 | g.33164870A>C | CA449867255 | COL11A2 | n.651T>G c.4845T>G (p.Pro1615=) c.4524T>G (p.Pro1508=) c.4587T>G (p.Pro1529=) n.635T>G c.3999T>G (p.Pro1333=) c.4131T>G (p.Pro1377=) c.3951T>G (p.Pro1317=) c.3888T>G (p.Pro1296=) c.3732T>G (p.Pro1244=) c.3663T>G (p.Pro1221=) | |
6 | g.33164870A>G | CA449867256 | COL11A2 | n.651T>C c.4845T>C (p.Pro1615=) c.4524T>C (p.Pro1508=) c.4587T>C (p.Pro1529=) n.635T>C c.3999T>C (p.Pro1333=) c.4131T>C (p.Pro1377=) c.3951T>C (p.Pro1317=) c.3888T>C (p.Pro1296=) c.3732T>C (p.Pro1244=) c.3663T>C (p.Pro1221=) | gnomAD v4 |
6 | g.33164870A>T | CA449867257 | COL11A2 | n.651T>A c.4845T>A (p.Pro1615=) c.4524T>A (p.Pro1508=) c.4587T>A (p.Pro1529=) n.635T>A c.3999T>A (p.Pro1333=) c.4131T>A (p.Pro1377=) c.3951T>A (p.Pro1317=) c.3888T>A (p.Pro1296=) c.3732T>A (p.Pro1244=) c.3663T>A (p.Pro1221=) | |
6 | g.33164871G>A | CA363617442 | COL11A2 | n.650C>T c.4844C>T (p.Pro1615Leu) c.4523C>T (p.Pro1508Leu) c.4586C>T (p.Pro1529Leu) n.634C>T c.3998C>T (p.Pro1333Leu) c.4130C>T (p.Pro1377Leu) c.3950C>T (p.Pro1317Leu) c.3887C>T (p.Pro1296Leu) c.3731C>T (p.Pro1244Leu) c.3662C>T (p.Pro1221Leu) | |
6 | g.33164871G>C | CA363617445 | COL11A2 | n.650C>G c.4844C>G (p.Pro1615Arg) c.4523C>G (p.Pro1508Arg) c.4586C>G (p.Pro1529Arg) n.634C>G c.3998C>G (p.Pro1333Arg) c.4130C>G (p.Pro1377Arg) c.3950C>G (p.Pro1317Arg) c.3887C>G (p.Pro1296Arg) c.3731C>G (p.Pro1244Arg) c.3662C>G (p.Pro1221Arg) | |
6 | g.33164871G>T | CA363617444 | COL11A2 | n.650C>A c.4844C>A (p.Pro1615His) c.4523C>A (p.Pro1508His) c.4586C>A (p.Pro1529His) n.634C>A c.3998C>A (p.Pro1333His) c.4130C>A (p.Pro1377His) c.3950C>A (p.Pro1317His) c.3887C>A (p.Pro1296His) c.3731C>A (p.Pro1244His) c.3662C>A (p.Pro1221His) | gnomAD v4 |
6 | g.33164872del | CA2678226910 | COL11A2 | n.650del c.4844del (p.Pro1615LeufsTer?) c.4523del (p.Pro1508LeufsTer?) c.4586del (p.Pro1529LeufsTer?) n.634del c.3998del (p.Pro1333LeufsTer?) c.4130del (p.Pro1377LeufsTer?) c.3950del (p.Pro1317LeufsTer?) c.3887del (p.Pro1296LeufsTer?) c.3731del (p.Pro1244LeufsTer?) c.3662del (p.Pro1221LeufsTer?) | gnomAD v4 |
6 | g.33164872G>A | CA363617448 | COL11A2 | n.649C>T c.4843C>T (p.Pro1615Ser) c.4522C>T (p.Pro1508Ser) c.4585C>T (p.Pro1529Ser) n.633C>T c.3997C>T (p.Pro1333Ser) c.4129C>T (p.Pro1377Ser) c.3949C>T (p.Pro1317Ser) c.3886C>T (p.Pro1296Ser) c.3730C>T (p.Pro1244Ser) c.3661C>T (p.Pro1221Ser) | ClinVar gnomAD v4 |
6 | g.33164872G>C | CA363617450 | COL11A2 | n.649C>G c.4843C>G (p.Pro1615Ala) c.4522C>G (p.Pro1508Ala) c.4585C>G (p.Pro1529Ala) n.633C>G c.3997C>G (p.Pro1333Ala) c.4129C>G (p.Pro1377Ala) c.3949C>G (p.Pro1317Ala) c.3886C>G (p.Pro1296Ala) c.3730C>G (p.Pro1244Ala) c.3661C>G (p.Pro1221Ala) | |
6 | g.33164872G>T | CA363617451 | COL11A2 | n.649C>A c.4843C>A (p.Pro1615Thr) c.4522C>A (p.Pro1508Thr) c.4585C>A (p.Pro1529Thr) n.633C>A c.3997C>A (p.Pro1333Thr) c.4129C>A (p.Pro1377Thr) c.3949C>A (p.Pro1317Thr) c.3886C>A (p.Pro1296Thr) c.3730C>A (p.Pro1244Thr) c.3661C>A (p.Pro1221Thr) | gnomAD v4 |
6 | g.33164874_33164896del | CA658795171 | COL11A2 | n.627_649del c.4821_4843del (p.Gly1608Ter) c.4500_4522del (p.Gly1501Ter) c.4563_4585del (p.Gly1522Ter) n.611_633del c.3975_3997del (p.Gly1326Ter) c.4107_4129del (p.Gly1370Ter) c.3927_3949del (p.Gly1310Ter) c.3864_3886del (p.Gly1289Ter) c.3708_3730del (p.Gly1237Ter) c.3639_3661del (p.Gly1214Ter) | |
6 | g.33164872_33164873insGATGA | CA2770563346 | COL11A2 | n.648_649insTCATC c.4842_4843insTCATC (p.Pro1615SerfsTer?) c.4521_4522insTCATC (p.Pro1508SerfsTer?) c.4584_4585insTCATC (p.Pro1529SerfsTer?) n.632_633insTCATC c.3996_3997insTCATC (p.Pro1333SerfsTer?) c.4128_4129insTCATC (p.Pro1377SerfsTer?) c.3948_3949insTCATC (p.Pro1317SerfsTer?) c.3885_3886insTCATC (p.Pro1296SerfsTer?) c.3729_3730insTCATC (p.Pro1244SerfsTer?) c.3660_3661insTCATC (p.Pro1221SerfsTer?) | |
6 | g.33164873C>A | CA449867261 | COL11A2 | n.648G>T c.4842G>T (p.Thr1614=) c.4521G>T (p.Thr1507=) c.4584G>T (p.Thr1528=) n.632G>T c.3996G>T (p.Thr1332=) c.4128G>T (p.Thr1376=) c.3948G>T (p.Thr1316=) c.3885G>T (p.Thr1295=) c.3729G>T (p.Thr1243=) c.3660G>T (p.Thr1220=) | gnomAD v4 |
6 | g.33164873C= | CA1619890444 | COL11A2 | n.648G= c.4842G= (p.Thr1614=) c.4521G= (p.Thr1507=) c.4584G= (p.Thr1528=) n.632G= c.3996G= (p.Thr1332=) c.4128G= (p.Thr1376=) c.3948G= (p.Thr1316=) c.3885G= (p.Thr1295=) c.3729G= (p.Thr1243=) c.3660G= (p.Thr1220=) | |
6 | g.33164873C>G | CA449867263 | COL11A2 | n.648G>C c.4842G>C (p.Thr1614=) c.4521G>C (p.Thr1507=) c.4584G>C (p.Thr1528=) n.632G>C c.3996G>C (p.Thr1332=) c.4128G>C (p.Thr1376=) c.3948G>C (p.Thr1316=) c.3885G>C (p.Thr1295=) c.3729G>C (p.Thr1243=) c.3660G>C (p.Thr1220=) | |
6 | g.33164873C>T | CA449867265 | COL11A2 | n.648G>A c.4842G>A (p.Thr1614=) c.4521G>A (p.Thr1507=) c.4584G>A (p.Thr1528=) n.632G>A c.3996G>A (p.Thr1332=) c.4128G>A (p.Thr1376=) c.3948G>A (p.Thr1316=) c.3885G>A (p.Thr1295=) c.3729G>A (p.Thr1243=) c.3660G>A (p.Thr1220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164874G>A | CA363617452 | COL11A2 | n.647C>T c.4841C>T (p.Thr1614Met) c.4520C>T (p.Thr1507Met) c.4583C>T (p.Thr1528Met) n.631C>T c.3995C>T (p.Thr1332Met) c.4127C>T (p.Thr1376Met) c.3947C>T (p.Thr1316Met) c.3884C>T (p.Thr1295Met) c.3728C>T (p.Thr1243Met) c.3659C>T (p.Thr1220Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164874G>C | CA363617453 | COL11A2 | n.647C>G c.4841C>G (p.Thr1614Arg) c.4520C>G (p.Thr1507Arg) c.4583C>G (p.Thr1528Arg) n.631C>G c.3995C>G (p.Thr1332Arg) c.4127C>G (p.Thr1376Arg) c.3947C>G (p.Thr1316Arg) c.3884C>G (p.Thr1295Arg) c.3728C>G (p.Thr1243Arg) c.3659C>G (p.Thr1220Arg) | |
6 | g.33164874G= | CA1619890449 | COL11A2 | n.647C= c.4841C= (p.Thr1614=) c.4520C= (p.Thr1507=) c.4583C= (p.Thr1528=) n.631C= c.3995C= (p.Thr1332=) c.4127C= (p.Thr1376=) c.3947C= (p.Thr1316=) c.3884C= (p.Thr1295=) c.3728C= (p.Thr1243=) c.3659C= (p.Thr1220=) | |
6 | g.33164874G>T | CA363617454 | COL11A2 | n.647C>A c.4841C>A (p.Thr1614Lys) c.4520C>A (p.Thr1507Lys) c.4583C>A (p.Thr1528Lys) n.631C>A c.3995C>A (p.Thr1332Lys) c.4127C>A (p.Thr1376Lys) c.3947C>A (p.Thr1316Lys) c.3884C>A (p.Thr1295Lys) c.3728C>A (p.Thr1243Lys) c.3659C>A (p.Thr1220Lys) | gnomAD v4 |
6 | g.33164875T>A | CA363617455 | COL11A2 | n.646A>T c.4840A>T (p.Thr1614Ser) c.4519A>T (p.Thr1507Ser) c.4582A>T (p.Thr1528Ser) n.630A>T c.3994A>T (p.Thr1332Ser) c.4126A>T (p.Thr1376Ser) c.3946A>T (p.Thr1316Ser) c.3883A>T (p.Thr1295Ser) c.3727A>T (p.Thr1243Ser) c.3658A>T (p.Thr1220Ser) | |
6 | g.33164875T>C | CA363617456 | COL11A2 | n.646A>G c.4840A>G (p.Thr1614Ala) c.4519A>G (p.Thr1507Ala) c.4582A>G (p.Thr1528Ala) n.630A>G c.3994A>G (p.Thr1332Ala) c.4126A>G (p.Thr1376Ala) c.3946A>G (p.Thr1316Ala) c.3883A>G (p.Thr1295Ala) c.3727A>G (p.Thr1243Ala) c.3658A>G (p.Thr1220Ala) | gnomAD v4 |
6 | g.33164875T>G | CA3749990 | COL11A2 | n.646A>C c.4840A>C (p.Thr1614Pro) c.4519A>C (p.Thr1507Pro) c.4582A>C (p.Thr1528Pro) n.630A>C c.3994A>C (p.Thr1332Pro) c.4126A>C (p.Thr1376Pro) c.3946A>C (p.Thr1316Pro) c.3883A>C (p.Thr1295Pro) c.3727A>C (p.Thr1243Pro) c.3658A>C (p.Thr1220Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164875T= | CA1619890454 | COL11A2 | n.646A= c.4840A= (p.Thr1614=) c.4519A= (p.Thr1507=) c.4582A= (p.Thr1528=) n.630A= c.3994A= (p.Thr1332=) c.4126A= (p.Thr1376=) c.3946A= (p.Thr1316=) c.3883A= (p.Thr1295=) c.3727A= (p.Thr1243=) c.3658A= (p.Thr1220=) | |
6 | g.33164876C>A | CA449867267 | COL11A2 | n.645G>T c.4839G>T (p.Val1613=) c.4518G>T (p.Val1506=) c.4581G>T (p.Val1527=) n.629G>T c.3993G>T (p.Val1331=) c.4125G>T (p.Val1375=) c.3945G>T (p.Val1315=) c.3882G>T (p.Val1294=) c.3726G>T (p.Val1242=) c.3657G>T (p.Val1219=) | gnomAD v4 |
6 | g.33164876C>G | CA449867268 | COL11A2 | n.645G>C c.4839G>C (p.Val1613=) c.4518G>C (p.Val1506=) c.4581G>C (p.Val1527=) n.629G>C c.3993G>C (p.Val1331=) c.4125G>C (p.Val1375=) c.3945G>C (p.Val1315=) c.3882G>C (p.Val1294=) c.3726G>C (p.Val1242=) c.3657G>C (p.Val1219=) | |
6 | g.33164876C>T | CA449867269 | COL11A2 | n.645G>A c.4839G>A (p.Val1613=) c.4518G>A (p.Val1506=) c.4581G>A (p.Val1527=) n.629G>A c.3993G>A (p.Val1331=) c.4125G>A (p.Val1375=) c.3945G>A (p.Val1315=) c.3882G>A (p.Val1294=) c.3726G>A (p.Val1242=) c.3657G>A (p.Val1219=) | |
6 | g.33164880_33164881del | CA2678226911 | COL11A2 | n.644_645del c.4838_4839del (p.Val1613AspfsTer3) c.4517_4518del (p.Val1506AspfsTer3) c.4580_4581del (p.Val1527AspfsTer3) n.628_629del c.3992_3993del (p.Val1331AspfsTer3) c.4124_4125del (p.Val1375AspfsTer3) c.3944_3945del (p.Val1315AspfsTer3) c.3881_3882del (p.Val1294AspfsTer3) c.3725_3726del (p.Val1242AspfsTer3) c.3656_3657del (p.Val1219AspfsTer3) | gnomAD v4 |
6 | g.33164877A>C | CA363617457 | COL11A2 | n.644T>G c.4838T>G (p.Val1613Gly) c.4517T>G (p.Val1506Gly) c.4580T>G (p.Val1527Gly) n.628T>G c.3992T>G (p.Val1331Gly) c.4124T>G (p.Val1375Gly) c.3944T>G (p.Val1315Gly) c.3881T>G (p.Val1294Gly) c.3725T>G (p.Val1242Gly) c.3656T>G (p.Val1219Gly) | |
6 | g.33164877A>G | CA363617458 | COL11A2 | n.644T>C c.4838T>C (p.Val1613Ala) c.4517T>C (p.Val1506Ala) c.4580T>C (p.Val1527Ala) n.628T>C c.3992T>C (p.Val1331Ala) c.4124T>C (p.Val1375Ala) c.3944T>C (p.Val1315Ala) c.3881T>C (p.Val1294Ala) c.3725T>C (p.Val1242Ala) c.3656T>C (p.Val1219Ala) | |
6 | g.33164877A>T | CA363617459 | COL11A2 | n.644T>A c.4838T>A (p.Val1613Glu) c.4517T>A (p.Val1506Glu) c.4580T>A (p.Val1527Glu) n.628T>A c.3992T>A (p.Val1331Glu) c.4124T>A (p.Val1375Glu) c.3944T>A (p.Val1315Glu) c.3881T>A (p.Val1294Glu) c.3725T>A (p.Val1242Glu) c.3656T>A (p.Val1219Glu) | |
6 | g.33164878C>A | CA363617460 | COL11A2 | n.643G>T c.4837G>T (p.Val1613Leu) c.4516G>T (p.Val1506Leu) c.4579G>T (p.Val1527Leu) n.627G>T c.3991G>T (p.Val1331Leu) c.4123G>T (p.Val1375Leu) c.3943G>T (p.Val1315Leu) c.3880G>T (p.Val1294Leu) c.3724G>T (p.Val1242Leu) c.3655G>T (p.Val1219Leu) | ClinVar dbSNP gnomAD v4 |
6 | g.33164878C= | CA1619890459 | COL11A2 | n.643G= c.4837G= (p.Val1613=) c.4516G= (p.Val1506=) c.4579G= (p.Val1527=) n.627G= c.3991G= (p.Val1331=) c.4123G= (p.Val1375=) c.3943G= (p.Val1315=) c.3880G= (p.Val1294=) c.3724G= (p.Val1242=) c.3655G= (p.Val1219=) | |
6 | g.33164878C>G | CA363617462 | COL11A2 | n.643G>C c.4837G>C (p.Val1613Leu) c.4516G>C (p.Val1506Leu) c.4579G>C (p.Val1527Leu) n.627G>C c.3991G>C (p.Val1331Leu) c.4123G>C (p.Val1375Leu) c.3943G>C (p.Val1315Leu) c.3880G>C (p.Val1294Leu) c.3724G>C (p.Val1242Leu) c.3655G>C (p.Val1219Leu) | |
6 | g.33164878C>T | CA363617461 | COL11A2 | n.643G>A c.4837G>A (p.Val1613Met) c.4516G>A (p.Val1506Met) c.4579G>A (p.Val1527Met) n.627G>A c.3991G>A (p.Val1331Met) c.4123G>A (p.Val1375Met) c.3943G>A (p.Val1315Met) c.3880G>A (p.Val1294Met) c.3724G>A (p.Val1242Met) c.3655G>A (p.Val1219Met) | gnomAD v4 |
6 | g.33164879A>C | CA363617464 | COL11A2 | n.642T>G c.4836T>G (p.Cys1612Trp) c.4515T>G (p.Cys1505Trp) c.4578T>G (p.Cys1526Trp) n.626T>G c.3990T>G (p.Cys1330Trp) c.4122T>G (p.Cys1374Trp) c.3942T>G (p.Cys1314Trp) c.3879T>G (p.Cys1293Trp) c.3723T>G (p.Cys1241Trp) c.3654T>G (p.Cys1218Trp) | |
6 | g.33164879A>G | CA449867272 | COL11A2 | n.642T>C c.4836T>C (p.Cys1612=) c.4515T>C (p.Cys1505=) c.4578T>C (p.Cys1526=) n.626T>C c.3990T>C (p.Cys1330=) c.4122T>C (p.Cys1374=) c.3942T>C (p.Cys1314=) c.3879T>C (p.Cys1293=) c.3723T>C (p.Cys1241=) c.3654T>C (p.Cys1218=) | gnomAD v4 |
6 | g.33164879A>T | CA363617466 | COL11A2 | n.642T>A c.4836T>A (p.Cys1612Ter) c.4515T>A (p.Cys1505Ter) c.4578T>A (p.Cys1526Ter) n.626T>A c.3990T>A (p.Cys1330Ter) c.4122T>A (p.Cys1374Ter) c.3942T>A (p.Cys1314Ter) c.3879T>A (p.Cys1293Ter) c.3723T>A (p.Cys1241Ter) c.3654T>A (p.Cys1218Ter) | gnomAD v4 |
6 | g.33164880C>A | CA363617468 | COL11A2 | n.641G>T c.4835G>T (p.Cys1612Phe) c.4514G>T (p.Cys1505Phe) c.4577G>T (p.Cys1526Phe) n.625G>T c.3989G>T (p.Cys1330Phe) c.4121G>T (p.Cys1374Phe) c.3941G>T (p.Cys1314Phe) c.3878G>T (p.Cys1293Phe) c.3722G>T (p.Cys1241Phe) c.3653G>T (p.Cys1218Phe) | gnomAD v4 |
6 | g.33164880C= | CA1619890464 | COL11A2 | n.641G= c.4835G= (p.Cys1612=) c.4514G= (p.Cys1505=) c.4577G= (p.Cys1526=) n.625G= c.3989G= (p.Cys1330=) c.4121G= (p.Cys1374=) c.3941G= (p.Cys1314=) c.3878G= (p.Cys1293=) c.3722G= (p.Cys1241=) c.3653G= (p.Cys1218=) | |
6 | g.33164880C>G | CA363617470 | COL11A2 | n.641G>C c.4835G>C (p.Cys1612Ser) c.4514G>C (p.Cys1505Ser) c.4577G>C (p.Cys1526Ser) n.625G>C c.3989G>C (p.Cys1330Ser) c.4121G>C (p.Cys1374Ser) c.3941G>C (p.Cys1314Ser) c.3878G>C (p.Cys1293Ser) c.3722G>C (p.Cys1241Ser) c.3653G>C (p.Cys1218Ser) | |
6 | g.33164880C>T | CA363617472 | COL11A2 | n.641G>A c.4835G>A (p.Cys1612Tyr) c.4514G>A (p.Cys1505Tyr) c.4577G>A (p.Cys1526Tyr) n.625G>A c.3989G>A (p.Cys1330Tyr) c.4121G>A (p.Cys1374Tyr) c.3941G>A (p.Cys1314Tyr) c.3878G>A (p.Cys1293Tyr) c.3722G>A (p.Cys1241Tyr) c.3653G>A (p.Cys1218Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164881A>C | CA363617474 | COL11A2 | n.640T>G c.4834T>G (p.Cys1612Gly) c.4513T>G (p.Cys1505Gly) c.4576T>G (p.Cys1526Gly) n.624T>G c.3988T>G (p.Cys1330Gly) c.4120T>G (p.Cys1374Gly) c.3940T>G (p.Cys1314Gly) c.3877T>G (p.Cys1293Gly) c.3721T>G (p.Cys1241Gly) c.3652T>G (p.Cys1218Gly) | gnomAD v4 |
6 | g.33164881A>G | CA363617476 | COL11A2 | n.640T>C c.4834T>C (p.Cys1612Arg) c.4513T>C (p.Cys1505Arg) c.4576T>C (p.Cys1526Arg) n.624T>C c.3988T>C (p.Cys1330Arg) c.4120T>C (p.Cys1374Arg) c.3940T>C (p.Cys1314Arg) c.3877T>C (p.Cys1293Arg) c.3721T>C (p.Cys1241Arg) c.3652T>C (p.Cys1218Arg) | gnomAD v4 COSMIC |
6 | g.33164881A>T | CA363617478 | COL11A2 | n.640T>A c.4834T>A (p.Cys1612Ser) c.4513T>A (p.Cys1505Ser) c.4576T>A (p.Cys1526Ser) n.624T>A c.3988T>A (p.Cys1330Ser) c.4120T>A (p.Cys1374Ser) c.3940T>A (p.Cys1314Ser) c.3877T>A (p.Cys1293Ser) c.3721T>A (p.Cys1241Ser) c.3652T>A (p.Cys1218Ser) | gnomAD v4 |
6 | g.33164882G>A | CA449867278 | COL11A2 | n.639C>T c.4833C>T (p.Thr1611=) c.4512C>T (p.Thr1504=) c.4575C>T (p.Thr1525=) n.623C>T c.3987C>T (p.Thr1329=) c.4119C>T (p.Thr1373=) c.3939C>T (p.Thr1313=) c.3876C>T (p.Thr1292=) c.3720C>T (p.Thr1240=) c.3651C>T (p.Thr1217=) | ClinVar gnomAD v4 |
6 | g.33164882G>C | CA449867277 | COL11A2 | n.639C>G c.4833C>G (p.Thr1611=) c.4512C>G (p.Thr1504=) c.4575C>G (p.Thr1525=) n.623C>G c.3987C>G (p.Thr1329=) c.4119C>G (p.Thr1373=) c.3939C>G (p.Thr1313=) c.3876C>G (p.Thr1292=) c.3720C>G (p.Thr1240=) c.3651C>G (p.Thr1217=) | |
6 | g.33164882G= | CA1619890467 | COL11A2 | n.639C= c.4833C= (p.Thr1611=) c.4512C= (p.Thr1504=) c.4575C= (p.Thr1525=) n.623C= c.3987C= (p.Thr1329=) c.4119C= (p.Thr1373=) c.3939C= (p.Thr1313=) c.3876C= (p.Thr1292=) c.3720C= (p.Thr1240=) c.3651C= (p.Thr1217=) | |
6 | g.33164882G>T | CA3749991 | COL11A2 | n.639C>A c.4833C>A (p.Thr1611=) c.4512C>A (p.Thr1504=) c.4575C>A (p.Thr1525=) n.623C>A c.3987C>A (p.Thr1329=) c.4119C>A (p.Thr1373=) c.3939C>A (p.Thr1313=) c.3876C>A (p.Thr1292=) c.3720C>A (p.Thr1240=) c.3651C>A (p.Thr1217=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164883G>A | CA363617486 | COL11A2 | n.638C>T c.4832C>T (p.Thr1611Ile) c.4511C>T (p.Thr1504Ile) c.4574C>T (p.Thr1525Ile) n.622C>T c.3986C>T (p.Thr1329Ile) c.4118C>T (p.Thr1373Ile) c.3938C>T (p.Thr1313Ile) c.3875C>T (p.Thr1292Ile) c.3719C>T (p.Thr1240Ile) c.3650C>T (p.Thr1217Ile) | |
6 | g.33164883G>C | CA363617484 | COL11A2 | n.638C>G c.4832C>G (p.Thr1611Ser) c.4511C>G (p.Thr1504Ser) c.4574C>G (p.Thr1525Ser) n.622C>G c.3986C>G (p.Thr1329Ser) c.4118C>G (p.Thr1373Ser) c.3938C>G (p.Thr1313Ser) c.3875C>G (p.Thr1292Ser) c.3719C>G (p.Thr1240Ser) c.3650C>G (p.Thr1217Ser) | |
6 | g.33164883G= | CA1619890470 | COL11A2 | n.638C= c.4832C= (p.Thr1611=) c.4511C= (p.Thr1504=) c.4574C= (p.Thr1525=) n.622C= c.3986C= (p.Thr1329=) c.4118C= (p.Thr1373=) c.3938C= (p.Thr1313=) c.3875C= (p.Thr1292=) c.3719C= (p.Thr1240=) c.3650C= (p.Thr1217=) | |
6 | g.33164883G>T | CA363617482 | COL11A2 | n.638C>A c.4832C>A (p.Thr1611Asn) c.4511C>A (p.Thr1504Asn) c.4574C>A (p.Thr1525Asn) n.622C>A c.3986C>A (p.Thr1329Asn) c.4118C>A (p.Thr1373Asn) c.3938C>A (p.Thr1313Asn) c.3875C>A (p.Thr1292Asn) c.3719C>A (p.Thr1240Asn) c.3650C>A (p.Thr1217Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164884T>A | CA363617488 | COL11A2 | n.637A>T c.4831A>T (p.Thr1611Ser) c.4510A>T (p.Thr1504Ser) c.4573A>T (p.Thr1525Ser) n.621A>T c.3985A>T (p.Thr1329Ser) c.4117A>T (p.Thr1373Ser) c.3937A>T (p.Thr1313Ser) c.3874A>T (p.Thr1292Ser) c.3718A>T (p.Thr1240Ser) c.3649A>T (p.Thr1217Ser) | ClinVar dbSNP gnomAD v4 |
6 | g.33164884T>C | CA363617490 | COL11A2 | n.637A>G c.4831A>G (p.Thr1611Ala) c.4510A>G (p.Thr1504Ala) c.4573A>G (p.Thr1525Ala) n.621A>G c.3985A>G (p.Thr1329Ala) c.4117A>G (p.Thr1373Ala) c.3937A>G (p.Thr1313Ala) c.3874A>G (p.Thr1292Ala) c.3718A>G (p.Thr1240Ala) c.3649A>G (p.Thr1217Ala) | gnomAD v4 |
6 | g.33164884T>G | CA363617492 | COL11A2 | n.637A>C c.4831A>C (p.Thr1611Pro) c.4510A>C (p.Thr1504Pro) c.4573A>C (p.Thr1525Pro) n.621A>C c.3985A>C (p.Thr1329Pro) c.4117A>C (p.Thr1373Pro) c.3937A>C (p.Thr1313Pro) c.3874A>C (p.Thr1292Pro) c.3718A>C (p.Thr1240Pro) c.3649A>C (p.Thr1217Pro) | |
6 | g.33164885C>A | CA363617494 | COL11A2 | n.636G>T c.4830G>T (p.Glu1610Asp) c.4509G>T (p.Glu1503Asp) c.4572G>T (p.Glu1524Asp) n.620G>T c.3984G>T (p.Glu1328Asp) c.4116G>T (p.Glu1372Asp) c.3936G>T (p.Glu1312Asp) c.3873G>T (p.Glu1291Asp) c.3717G>T (p.Glu1239Asp) c.3648G>T (p.Glu1216Asp) | gnomAD v4 |
6 | g.33164885C= | CA1619890473 | COL11A2 | n.636G= c.4830G= (p.Glu1610=) c.4509G= (p.Glu1503=) c.4572G= (p.Glu1524=) n.620G= c.3984G= (p.Glu1328=) c.4116G= (p.Glu1372=) c.3936G= (p.Glu1312=) c.3873G= (p.Glu1291=) c.3717G= (p.Glu1239=) c.3648G= (p.Glu1216=) | |
6 | g.33164885C>G | CA363617496 | COL11A2 | n.636G>C c.4830G>C (p.Glu1610Asp) c.4509G>C (p.Glu1503Asp) c.4572G>C (p.Glu1524Asp) n.620G>C c.3984G>C (p.Glu1328Asp) c.4116G>C (p.Glu1372Asp) c.3936G>C (p.Glu1312Asp) c.3873G>C (p.Glu1291Asp) c.3717G>C (p.Glu1239Asp) c.3648G>C (p.Glu1216Asp) | dbSNP |
6 | g.33164885C>T | CA449867283 | COL11A2 | n.636G>A c.4830G>A (p.Glu1610=) c.4509G>A (p.Glu1503=) c.4572G>A (p.Glu1524=) n.620G>A c.3984G>A (p.Glu1328=) c.4116G>A (p.Glu1372=) c.3936G>A (p.Glu1312=) c.3873G>A (p.Glu1291=) c.3717G>A (p.Glu1239=) c.3648G>A (p.Glu1216=) | dbSNP gnomAD v2 |
6 | g.33164886T>A | CA363617498 | COL11A2 | n.635A>T c.4829A>T (p.Glu1610Val) c.4508A>T (p.Glu1503Val) c.4571A>T (p.Glu1524Val) n.619A>T c.3983A>T (p.Glu1328Val) c.4115A>T (p.Glu1372Val) c.3935A>T (p.Glu1312Val) c.3872A>T (p.Glu1291Val) c.3716A>T (p.Glu1239Val) c.3647A>T (p.Glu1216Val) | gnomAD v4 |
6 | g.33164886T>C | CA363617500 | COL11A2 | n.635A>G c.4829A>G (p.Glu1610Gly) c.4508A>G (p.Glu1503Gly) c.4571A>G (p.Glu1524Gly) n.619A>G c.3983A>G (p.Glu1328Gly) c.4115A>G (p.Glu1372Gly) c.3935A>G (p.Glu1312Gly) c.3872A>G (p.Glu1291Gly) c.3716A>G (p.Glu1239Gly) c.3647A>G (p.Glu1216Gly) | |
6 | g.33164886T>G | CA363617502 | COL11A2 | n.635A>C c.4829A>C (p.Glu1610Ala) c.4508A>C (p.Glu1503Ala) c.4571A>C (p.Glu1524Ala) n.619A>C c.3983A>C (p.Glu1328Ala) c.4115A>C (p.Glu1372Ala) c.3935A>C (p.Glu1312Ala) c.3872A>C (p.Glu1291Ala) c.3716A>C (p.Glu1239Ala) c.3647A>C (p.Glu1216Ala) | |
6 | g.33164887C>A | CA363617506 | COL11A2 | n.634G>T c.4828G>T (p.Glu1610Ter) c.4507G>T (p.Glu1503Ter) c.4570G>T (p.Glu1524Ter) n.618G>T c.3982G>T (p.Glu1328Ter) c.4114G>T (p.Glu1372Ter) c.3934G>T (p.Glu1312Ter) c.3871G>T (p.Glu1291Ter) c.3715G>T (p.Glu1239Ter) c.3646G>T (p.Glu1216Ter) | gnomAD v4 |
6 | g.33164887C>G | CA363617507 | COL11A2 | n.634G>C c.4828G>C (p.Glu1610Gln) c.4507G>C (p.Glu1503Gln) c.4570G>C (p.Glu1524Gln) n.618G>C c.3982G>C (p.Glu1328Gln) c.4114G>C (p.Glu1372Gln) c.3934G>C (p.Glu1312Gln) c.3871G>C (p.Glu1291Gln) c.3715G>C (p.Glu1239Gln) c.3646G>C (p.Glu1216Gln) | |
6 | g.33164887C>T | CA363617510 | COL11A2 | n.634G>A c.4828G>A (p.Glu1610Lys) c.4507G>A (p.Glu1503Lys) c.4570G>A (p.Glu1524Lys) n.618G>A c.3982G>A (p.Glu1328Lys) c.4114G>A (p.Glu1372Lys) c.3934G>A (p.Glu1312Lys) c.3871G>A (p.Glu1291Lys) c.3715G>A (p.Glu1239Lys) c.3646G>A (p.Glu1216Lys) | gnomAD v4 |
6 | g.33164888A= | CA1619890477 | COL11A2 | n.633T= c.4827T= (p.Gly1609=) c.4506T= (p.Gly1502=) c.4569T= (p.Gly1523=) n.617T= c.3981T= (p.Gly1327=) c.4113T= (p.Gly1371=) c.3933T= (p.Gly1311=) c.3870T= (p.Gly1290=) c.3714T= (p.Gly1238=) c.3645T= (p.Gly1215=) | |
6 | g.33164888A>C | CA449867284 | COL11A2 | n.633T>G c.4827T>G (p.Gly1609=) c.4506T>G (p.Gly1502=) c.4569T>G (p.Gly1523=) n.617T>G c.3981T>G (p.Gly1327=) c.4113T>G (p.Gly1371=) c.3933T>G (p.Gly1311=) c.3870T>G (p.Gly1290=) c.3714T>G (p.Gly1238=) c.3645T>G (p.Gly1215=) | |
6 | g.33164888A>G | CA449867285 | COL11A2 | n.633T>C c.4827T>C (p.Gly1609=) c.4506T>C (p.Gly1502=) c.4569T>C (p.Gly1523=) n.617T>C c.3981T>C (p.Gly1327=) c.4113T>C (p.Gly1371=) c.3933T>C (p.Gly1311=) c.3870T>C (p.Gly1290=) c.3714T>C (p.Gly1238=) c.3645T>C (p.Gly1215=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164888A>T | CA449867286 | COL11A2 | n.633T>A c.4827T>A (p.Gly1609=) c.4506T>A (p.Gly1502=) c.4569T>A (p.Gly1523=) n.617T>A c.3981T>A (p.Gly1327=) c.4113T>A (p.Gly1371=) c.3933T>A (p.Gly1311=) c.3870T>A (p.Gly1290=) c.3714T>A (p.Gly1238=) c.3645T>A (p.Gly1215=) | |
6 | g.33164888dup | CA2711428177 | COL11A2 | n.633dup c.4827dup (p.Glu1610Ter) c.4506dup (p.Glu1503Ter) c.4569dup (p.Glu1524Ter) n.617dup c.3981dup (p.Glu1328Ter) c.4113dup (p.Glu1372Ter) c.3933dup (p.Glu1312Ter) c.3870dup (p.Glu1291Ter) c.3714dup (p.Glu1239Ter) c.3645dup (p.Glu1216Ter) | dbSNP |
6 | g.33164889C>A | CA363617515 | COL11A2 | n.632G>T c.4826G>T (p.Gly1609Val) c.4505G>T (p.Gly1502Val) c.4568G>T (p.Gly1523Val) n.616G>T c.3980G>T (p.Gly1327Val) c.4112G>T (p.Gly1371Val) c.3932G>T (p.Gly1311Val) c.3869G>T (p.Gly1290Val) c.3713G>T (p.Gly1238Val) c.3644G>T (p.Gly1215Val) | gnomAD v4 |
6 | g.33164889C= | CA1619890482 | COL11A2 | n.632G= c.4826G= (p.Gly1609=) c.4505G= (p.Gly1502=) c.4568G= (p.Gly1523=) n.616G= c.3980G= (p.Gly1327=) c.4112G= (p.Gly1371=) c.3932G= (p.Gly1311=) c.3869G= (p.Gly1290=) c.3713G= (p.Gly1238=) c.3644G= (p.Gly1215=) | |
6 | g.33164889C>G | CA363617512 | COL11A2 | n.632G>C c.4826G>C (p.Gly1609Ala) c.4505G>C (p.Gly1502Ala) c.4568G>C (p.Gly1523Ala) n.616G>C c.3980G>C (p.Gly1327Ala) c.4112G>C (p.Gly1371Ala) c.3932G>C (p.Gly1311Ala) c.3869G>C (p.Gly1290Ala) c.3713G>C (p.Gly1238Ala) c.3644G>C (p.Gly1215Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164889C>T | CA3749992 | COL11A2 | n.632G>A c.4826G>A (p.Gly1609Asp) c.4505G>A (p.Gly1502Asp) c.4568G>A (p.Gly1523Asp) n.616G>A c.3980G>A (p.Gly1327Asp) c.4112G>A (p.Gly1371Asp) c.3932G>A (p.Gly1311Asp) c.3869G>A (p.Gly1290Asp) c.3713G>A (p.Gly1238Asp) c.3644G>A (p.Gly1215Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164893del | CA2678226912 | COL11A2 | n.632del c.4826del (p.Gly1609ValfsTer5) c.4505del (p.Gly1502ValfsTer5) c.4568del (p.Gly1523ValfsTer5) n.616del c.3980del (p.Gly1327ValfsTer5) c.4112del (p.Gly1371ValfsTer5) c.3932del (p.Gly1311ValfsTer5) c.3869del (p.Gly1290ValfsTer5) c.3713del (p.Gly1238ValfsTer5) c.3644del (p.Gly1215ValfsTer5) | gnomAD v4 |
6 | g.33164890C>A | CA363617517 | COL11A2 | n.631G>T c.4825G>T (p.Gly1609Cys) c.4504G>T (p.Gly1502Cys) c.4567G>T (p.Gly1523Cys) n.615G>T c.3979G>T (p.Gly1327Cys) c.4111G>T (p.Gly1371Cys) c.3931G>T (p.Gly1311Cys) c.3868G>T (p.Gly1290Cys) c.3712G>T (p.Gly1238Cys) c.3643G>T (p.Gly1215Cys) | gnomAD v4 |
6 | g.33164890C= | CA1619890486 | COL11A2 | n.631G= c.4825G= (p.Gly1609=) c.4504G= (p.Gly1502=) c.4567G= (p.Gly1523=) n.615G= c.3979G= (p.Gly1327=) c.4111G= (p.Gly1371=) c.3931G= (p.Gly1311=) c.3868G= (p.Gly1290=) c.3712G= (p.Gly1238=) c.3643G= (p.Gly1215=) | |
6 | g.33164890C>G | CA363617518 | COL11A2 | n.631G>C c.4825G>C (p.Gly1609Arg) c.4504G>C (p.Gly1502Arg) c.4567G>C (p.Gly1523Arg) n.615G>C c.3979G>C (p.Gly1327Arg) c.4111G>C (p.Gly1371Arg) c.3931G>C (p.Gly1311Arg) c.3868G>C (p.Gly1290Arg) c.3712G>C (p.Gly1238Arg) c.3643G>C (p.Gly1215Arg) | gnomAD v4 |
6 | g.33164890C>T | CA363617520 | COL11A2 | n.631G>A c.4825G>A (p.Gly1609Ser) c.4504G>A (p.Gly1502Ser) c.4567G>A (p.Gly1523Ser) n.615G>A c.3979G>A (p.Gly1327Ser) c.4111G>A (p.Gly1371Ser) c.3931G>A (p.Gly1311Ser) c.3868G>A (p.Gly1290Ser) c.3712G>A (p.Gly1238Ser) c.3643G>A (p.Gly1215Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164891C>A | CA449867287 | COL11A2 | n.630G>T c.4824G>T (p.Gly1608=) c.4503G>T (p.Gly1501=) c.4566G>T (p.Gly1522=) n.614G>T c.3978G>T (p.Gly1326=) c.4110G>T (p.Gly1370=) c.3930G>T (p.Gly1310=) c.3867G>T (p.Gly1289=) c.3711G>T (p.Gly1237=) c.3642G>T (p.Gly1214=) | gnomAD v4 |
6 | g.33164891C= | CA1619890490 | COL11A2 | n.630G= c.4824G= (p.Gly1608=) c.4503G= (p.Gly1501=) c.4566G= (p.Gly1522=) n.614G= c.3978G= (p.Gly1326=) c.4110G= (p.Gly1370=) c.3930G= (p.Gly1310=) c.3867G= (p.Gly1289=) c.3711G= (p.Gly1237=) c.3642G= (p.Gly1214=) | |
6 | g.33164891C>G | CA449867288 | COL11A2 | n.630G>C c.4824G>C (p.Gly1608=) c.4503G>C (p.Gly1501=) c.4566G>C (p.Gly1522=) n.614G>C c.3978G>C (p.Gly1326=) c.4110G>C (p.Gly1370=) c.3930G>C (p.Gly1310=) c.3867G>C (p.Gly1289=) c.3711G>C (p.Gly1237=) c.3642G>C (p.Gly1214=) | ClinVar |
6 | g.33164891C>T | CA449867289 | COL11A2 | n.630G>A c.4824G>A (p.Gly1608=) c.4503G>A (p.Gly1501=) c.4566G>A (p.Gly1522=) n.614G>A c.3978G>A (p.Gly1326=) c.4110G>A (p.Gly1370=) c.3930G>A (p.Gly1310=) c.3867G>A (p.Gly1289=) c.3711G>A (p.Gly1237=) c.3642G>A (p.Gly1214=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164892C>A | CA363617522 | COL11A2 | n.629G>T c.4823G>T (p.Gly1608Val) c.4502G>T (p.Gly1501Val) c.4565G>T (p.Gly1522Val) n.613G>T c.3977G>T (p.Gly1326Val) c.4109G>T (p.Gly1370Val) c.3929G>T (p.Gly1310Val) c.3866G>T (p.Gly1289Val) c.3710G>T (p.Gly1237Val) c.3641G>T (p.Gly1214Val) | gnomAD v4 |
6 | g.33164892C= | CA1619890492 | COL11A2 | n.629G= c.4823G= (p.Gly1608=) c.4502G= (p.Gly1501=) c.4565G= (p.Gly1522=) n.613G= c.3977G= (p.Gly1326=) c.4109G= (p.Gly1370=) c.3929G= (p.Gly1310=) c.3866G= (p.Gly1289=) c.3710G= (p.Gly1237=) c.3641G= (p.Gly1214=) | |
6 | g.33164892C>G | CA363617524 | COL11A2 | n.629G>C c.4823G>C (p.Gly1608Ala) c.4502G>C (p.Gly1501Ala) c.4565G>C (p.Gly1522Ala) n.613G>C c.3977G>C (p.Gly1326Ala) c.4109G>C (p.Gly1370Ala) c.3929G>C (p.Gly1310Ala) c.3866G>C (p.Gly1289Ala) c.3710G>C (p.Gly1237Ala) c.3641G>C (p.Gly1214Ala) | |
6 | g.33164892C>T | CA363617526 | COL11A2 | n.629G>A c.4823G>A (p.Gly1608Glu) c.4502G>A (p.Gly1501Glu) c.4565G>A (p.Gly1522Glu) n.613G>A c.3977G>A (p.Gly1326Glu) c.4109G>A (p.Gly1370Glu) c.3929G>A (p.Gly1310Glu) c.3866G>A (p.Gly1289Glu) c.3710G>A (p.Gly1237Glu) c.3641G>A (p.Gly1214Glu) | dbSNP |
6 | g.33164893C>A | CA137061735 | COL11A2 | n.628G>T c.4822G>T (p.Gly1608Trp) c.4501G>T (p.Gly1501Trp) c.4564G>T (p.Gly1522Trp) n.612G>T c.3976G>T (p.Gly1326Trp) c.4108G>T (p.Gly1370Trp) c.3928G>T (p.Gly1310Trp) c.3865G>T (p.Gly1289Trp) c.3709G>T (p.Gly1237Trp) c.3640G>T (p.Gly1214Trp) | dbSNP gnomAD v4 |
6 | g.33164893C= | CA1619890499 | COL11A2 | n.628G= c.4822G= (p.Gly1608=) c.4501G= (p.Gly1501=) c.4564G= (p.Gly1522=) n.612G= c.3976G= (p.Gly1326=) c.4108G= (p.Gly1370=) c.3928G= (p.Gly1310=) c.3865G= (p.Gly1289=) c.3709G= (p.Gly1237=) c.3640G= (p.Gly1214=) | |
6 | g.33164893C>G | CA363617529 | COL11A2 | n.628G>C c.4822G>C (p.Gly1608Arg) c.4501G>C (p.Gly1501Arg) c.4564G>C (p.Gly1522Arg) n.612G>C c.3976G>C (p.Gly1326Arg) c.4108G>C (p.Gly1370Arg) c.3928G>C (p.Gly1310Arg) c.3865G>C (p.Gly1289Arg) c.3709G>C (p.Gly1237Arg) c.3640G>C (p.Gly1214Arg) | |
6 | g.33164893C>T | CA363617531 | COL11A2 | n.628G>A c.4822G>A (p.Gly1608Arg) c.4501G>A (p.Gly1501Arg) c.4564G>A (p.Gly1522Arg) n.612G>A c.3976G>A (p.Gly1326Arg) c.4108G>A (p.Gly1370Arg) c.3928G>A (p.Gly1310Arg) c.3865G>A (p.Gly1289Arg) c.3709G>A (p.Gly1237Arg) c.3640G>A (p.Gly1214Arg) | gnomAD v4 |
6 | g.33164894T>A | CA449867290 | COL11A2 | n.627A>T c.4821A>T (p.Ala1607=) c.4500A>T (p.Ala1500=) c.4563A>T (p.Ala1521=) n.611A>T c.3975A>T (p.Ala1325=) c.4107A>T (p.Ala1369=) c.3927A>T (p.Ala1309=) c.3864A>T (p.Ala1288=) c.3708A>T (p.Ala1236=) c.3639A>T (p.Ala1213=) | |
6 | g.33164894T>C | CA449867291 | COL11A2 | n.627A>G c.4821A>G (p.Ala1607=) c.4500A>G (p.Ala1500=) c.4563A>G (p.Ala1521=) n.611A>G c.3975A>G (p.Ala1325=) c.4107A>G (p.Ala1369=) c.3927A>G (p.Ala1309=) c.3864A>G (p.Ala1288=) c.3708A>G (p.Ala1236=) c.3639A>G (p.Ala1213=) | ClinVar gnomAD v4 |
6 | g.33164894T>G | CA3749993 | COL11A2 | n.627A>C c.4821A>C (p.Ala1607=) c.4500A>C (p.Ala1500=) c.4563A>C (p.Ala1521=) n.611A>C c.3975A>C (p.Ala1325=) c.4107A>C (p.Ala1369=) c.3927A>C (p.Ala1309=) c.3864A>C (p.Ala1288=) c.3708A>C (p.Ala1236=) c.3639A>C (p.Ala1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164894T= | CA1619890504 | COL11A2 | n.627A= c.4821A= (p.Ala1607=) c.4500A= (p.Ala1500=) c.4563A= (p.Ala1521=) n.611A= c.3975A= (p.Ala1325=) c.4107A= (p.Ala1369=) c.3927A= (p.Ala1309=) c.3864A= (p.Ala1288=) c.3708A= (p.Ala1236=) c.3639A= (p.Ala1213=) | |
6 | g.33164895G>A | CA363617532 | COL11A2 | n.626C>T c.4820C>T (p.Ala1607Val) c.4499C>T (p.Ala1500Val) c.4562C>T (p.Ala1521Val) n.610C>T c.3974C>T (p.Ala1325Val) c.4106C>T (p.Ala1369Val) c.3926C>T (p.Ala1309Val) c.3863C>T (p.Ala1288Val) c.3707C>T (p.Ala1236Val) c.3638C>T (p.Ala1213Val) | gnomAD v4 |
6 | g.33164895G>C | CA363617534 | COL11A2 | n.626C>G c.4820C>G (p.Ala1607Gly) c.4499C>G (p.Ala1500Gly) c.4562C>G (p.Ala1521Gly) n.610C>G c.3974C>G (p.Ala1325Gly) c.4106C>G (p.Ala1369Gly) c.3926C>G (p.Ala1309Gly) c.3863C>G (p.Ala1288Gly) c.3707C>G (p.Ala1236Gly) c.3638C>G (p.Ala1213Gly) | |
6 | g.33164895G>T | CA363617536 | COL11A2 | n.626C>A c.4820C>A (p.Ala1607Glu) c.4499C>A (p.Ala1500Glu) c.4562C>A (p.Ala1521Glu) n.610C>A c.3974C>A (p.Ala1325Glu) c.4106C>A (p.Ala1369Glu) c.3926C>A (p.Ala1309Glu) c.3863C>A (p.Ala1288Glu) c.3707C>A (p.Ala1236Glu) c.3638C>A (p.Ala1213Glu) | gnomAD v4 |
6 | g.33164896C>A | CA363617540 | COL11A2 | n.625G>T c.4819G>T (p.Ala1607Ser) c.4498G>T (p.Ala1500Ser) c.4561G>T (p.Ala1521Ser) n.609G>T c.3973G>T (p.Ala1325Ser) c.4105G>T (p.Ala1369Ser) c.3925G>T (p.Ala1309Ser) c.3862G>T (p.Ala1288Ser) c.3706G>T (p.Ala1236Ser) c.3637G>T (p.Ala1213Ser) | gnomAD v4 |
6 | g.33164896C>G | CA363617541 | COL11A2 | n.625G>C c.4819G>C (p.Ala1607Pro) c.4498G>C (p.Ala1500Pro) c.4561G>C (p.Ala1521Pro) n.609G>C c.3973G>C (p.Ala1325Pro) c.4105G>C (p.Ala1369Pro) c.3925G>C (p.Ala1309Pro) c.3862G>C (p.Ala1288Pro) c.3706G>C (p.Ala1236Pro) c.3637G>C (p.Ala1213Pro) | |
6 | g.33164896C>T | CA363617538 | COL11A2 | n.625G>A c.4819G>A (p.Ala1607Thr) c.4498G>A (p.Ala1500Thr) c.4561G>A (p.Ala1521Thr) n.609G>A c.3973G>A (p.Ala1325Thr) c.4105G>A (p.Ala1369Thr) c.3925G>A (p.Ala1309Thr) c.3862G>A (p.Ala1288Thr) c.3706G>A (p.Ala1236Thr) c.3637G>A (p.Ala1213Thr) | gnomAD v4 COSMIC |
6 | g.33164897T>A | CA449867292 | COL11A2 | n.624A>T c.4818A>T (p.Thr1606=) c.4497A>T (p.Thr1499=) c.4560A>T (p.Thr1520=) n.608A>T c.3972A>T (p.Thr1324=) c.4104A>T (p.Thr1368=) c.3924A>T (p.Thr1308=) c.3861A>T (p.Thr1287=) c.3705A>T (p.Thr1235=) c.3636A>T (p.Thr1212=) | |
6 | g.33164897T>C | CA449867293 | COL11A2 | n.624A>G c.4818A>G (p.Thr1606=) c.4497A>G (p.Thr1499=) c.4560A>G (p.Thr1520=) n.608A>G c.3972A>G (p.Thr1324=) c.4104A>G (p.Thr1368=) c.3924A>G (p.Thr1308=) c.3861A>G (p.Thr1287=) c.3705A>G (p.Thr1235=) c.3636A>G (p.Thr1212=) | gnomAD v4 |
6 | g.33164897T>G | CA449867294 | COL11A2 | n.624A>C c.4818A>C (p.Thr1606=) c.4497A>C (p.Thr1499=) c.4560A>C (p.Thr1520=) n.608A>C c.3972A>C (p.Thr1324=) c.4104A>C (p.Thr1368=) c.3924A>C (p.Thr1308=) c.3861A>C (p.Thr1287=) c.3705A>C (p.Thr1235=) c.3636A>C (p.Thr1212=) | |
6 | g.33164898G>A | CA363617545 | COL11A2 | n.623C>T c.4817C>T (p.Thr1606Ile) c.4496C>T (p.Thr1499Ile) c.4559C>T (p.Thr1520Ile) n.607C>T c.3971C>T (p.Thr1324Ile) c.4103C>T (p.Thr1368Ile) c.3923C>T (p.Thr1308Ile) c.3860C>T (p.Thr1287Ile) c.3704C>T (p.Thr1235Ile) c.3635C>T (p.Thr1212Ile) | gnomAD v4 |
6 | g.33164898G>C | CA363617542 | COL11A2 | n.623C>G c.4817C>G (p.Thr1606Arg) c.4496C>G (p.Thr1499Arg) c.4559C>G (p.Thr1520Arg) n.607C>G c.3971C>G (p.Thr1324Arg) c.4103C>G (p.Thr1368Arg) c.3923C>G (p.Thr1308Arg) c.3860C>G (p.Thr1287Arg) c.3704C>G (p.Thr1235Arg) c.3635C>G (p.Thr1212Arg) | |
6 | g.33164898G>T | CA363617543 | COL11A2 | n.623C>A c.4817C>A (p.Thr1606Lys) c.4496C>A (p.Thr1499Lys) c.4559C>A (p.Thr1520Lys) n.607C>A c.3971C>A (p.Thr1324Lys) c.4103C>A (p.Thr1368Lys) c.3923C>A (p.Thr1308Lys) c.3860C>A (p.Thr1287Lys) c.3704C>A (p.Thr1235Lys) c.3635C>A (p.Thr1212Lys) | gnomAD v4 |
6 | g.33164899T>A | CA363617547 | COL11A2 | n.622A>T c.4816A>T (p.Thr1606Ser) c.4495A>T (p.Thr1499Ser) c.4558A>T (p.Thr1520Ser) n.606A>T c.3970A>T (p.Thr1324Ser) c.4102A>T (p.Thr1368Ser) c.3922A>T (p.Thr1308Ser) c.3859A>T (p.Thr1287Ser) c.3703A>T (p.Thr1235Ser) c.3634A>T (p.Thr1212Ser) | |
6 | g.33164899T>C | CA363617549 | COL11A2 | n.622A>G c.4816A>G (p.Thr1606Ala) c.4495A>G (p.Thr1499Ala) c.4558A>G (p.Thr1520Ala) n.606A>G c.3970A>G (p.Thr1324Ala) c.4102A>G (p.Thr1368Ala) c.3922A>G (p.Thr1308Ala) c.3859A>G (p.Thr1287Ala) c.3703A>G (p.Thr1235Ala) c.3634A>G (p.Thr1212Ala) | ClinVar gnomAD v4 |
6 | g.33164899T>G | CA363617550 | COL11A2 | n.622A>C c.4816A>C (p.Thr1606Pro) c.4495A>C (p.Thr1499Pro) c.4558A>C (p.Thr1520Pro) n.606A>C c.3970A>C (p.Thr1324Pro) c.4102A>C (p.Thr1368Pro) c.3922A>C (p.Thr1308Pro) c.3859A>C (p.Thr1287Pro) c.3703A>C (p.Thr1235Pro) c.3634A>C (p.Thr1212Pro) | |
6 | g.33164900G>A | CA449867295 | COL11A2 | n.621C>T c.4815C>T (p.Phe1605=) c.4494C>T (p.Phe1498=) c.4557C>T (p.Phe1519=) n.605C>T c.3969C>T (p.Phe1323=) c.4101C>T (p.Phe1367=) c.3921C>T (p.Phe1307=) c.3858C>T (p.Phe1286=) c.3702C>T (p.Phe1234=) c.3633C>T (p.Phe1211=) | gnomAD v4 |
6 | g.33164900G>C | CA363617552 | COL11A2 | n.621C>G c.4815C>G (p.Phe1605Leu) c.4494C>G (p.Phe1498Leu) c.4557C>G (p.Phe1519Leu) n.605C>G c.3969C>G (p.Phe1323Leu) c.4101C>G (p.Phe1367Leu) c.3921C>G (p.Phe1307Leu) c.3858C>G (p.Phe1286Leu) c.3702C>G (p.Phe1234Leu) c.3633C>G (p.Phe1211Leu) | |
6 | g.33164900G>T | CA363617554 | COL11A2 | n.621C>A c.4815C>A (p.Phe1605Leu) c.4494C>A (p.Phe1498Leu) c.4557C>A (p.Phe1519Leu) n.605C>A c.3969C>A (p.Phe1323Leu) c.4101C>A (p.Phe1367Leu) c.3921C>A (p.Phe1307Leu) c.3858C>A (p.Phe1286Leu) c.3702C>A (p.Phe1234Leu) c.3633C>A (p.Phe1211Leu) | gnomAD v4 |
6 | g.33164901A>C | CA363617556 | COL11A2 | n.620T>G c.4814T>G (p.Phe1605Cys) c.4493T>G (p.Phe1498Cys) c.4556T>G (p.Phe1519Cys) n.604T>G c.3968T>G (p.Phe1323Cys) c.4100T>G (p.Phe1367Cys) c.3920T>G (p.Phe1307Cys) c.3857T>G (p.Phe1286Cys) c.3701T>G (p.Phe1234Cys) c.3632T>G (p.Phe1211Cys) | |
6 | g.33164901A>G | CA363617558 | COL11A2 | n.620T>C c.4814T>C (p.Phe1605Ser) c.4493T>C (p.Phe1498Ser) c.4556T>C (p.Phe1519Ser) n.604T>C c.3968T>C (p.Phe1323Ser) c.4100T>C (p.Phe1367Ser) c.3920T>C (p.Phe1307Ser) c.3857T>C (p.Phe1286Ser) c.3701T>C (p.Phe1234Ser) c.3632T>C (p.Phe1211Ser) | gnomAD v4 |
6 | g.33164901A>T | CA363617560 | COL11A2 | n.620T>A c.4814T>A (p.Phe1605Tyr) c.4493T>A (p.Phe1498Tyr) c.4556T>A (p.Phe1519Tyr) n.604T>A c.3968T>A (p.Phe1323Tyr) c.4100T>A (p.Phe1367Tyr) c.3920T>A (p.Phe1307Tyr) c.3857T>A (p.Phe1286Tyr) c.3701T>A (p.Phe1234Tyr) c.3632T>A (p.Phe1211Tyr) | |
6 | g.33164902A>C | CA363617571 | COL11A2 | n.619T>G c.4813T>G (p.Phe1605Val) c.4492T>G (p.Phe1498Val) c.4555T>G (p.Phe1519Val) n.603T>G c.3967T>G (p.Phe1323Val) c.4099T>G (p.Phe1367Val) c.3919T>G (p.Phe1307Val) c.3856T>G (p.Phe1286Val) c.3700T>G (p.Phe1234Val) c.3631T>G (p.Phe1211Val) | |
6 | g.33164902A>G | CA363617573 | COL11A2 | n.619T>C c.4813T>C (p.Phe1605Leu) c.4492T>C (p.Phe1498Leu) c.4555T>C (p.Phe1519Leu) n.603T>C c.3967T>C (p.Phe1323Leu) c.4099T>C (p.Phe1367Leu) c.3919T>C (p.Phe1307Leu) c.3856T>C (p.Phe1286Leu) c.3700T>C (p.Phe1234Leu) c.3631T>C (p.Phe1211Leu) | gnomAD v4 |
6 | g.33164902A>T | CA363617575 | COL11A2 | n.619T>A c.4813T>A (p.Phe1605Ile) c.4492T>A (p.Phe1498Ile) c.4555T>A (p.Phe1519Ile) n.603T>A c.3967T>A (p.Phe1323Ile) c.4099T>A (p.Phe1367Ile) c.3919T>A (p.Phe1307Ile) c.3856T>A (p.Phe1286Ile) c.3700T>A (p.Phe1234Ile) c.3631T>A (p.Phe1211Ile) | |
6 | g.33164903G>A | CA449867296 | COL11A2 | n.618C>T c.4812C>T (p.Asn1604=) c.4491C>T (p.Asn1497=) c.4554C>T (p.Asn1518=) n.602C>T c.3966C>T (p.Asn1322=) c.4098C>T (p.Asn1366=) c.3918C>T (p.Asn1306=) c.3855C>T (p.Asn1285=) c.3699C>T (p.Asn1233=) c.3630C>T (p.Asn1210=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164903G>C | CA363617579 | COL11A2 | n.618C>G c.4812C>G (p.Asn1604Lys) c.4491C>G (p.Asn1497Lys) c.4554C>G (p.Asn1518Lys) n.602C>G c.3966C>G (p.Asn1322Lys) c.4098C>G (p.Asn1366Lys) c.3918C>G (p.Asn1306Lys) c.3855C>G (p.Asn1285Lys) c.3699C>G (p.Asn1233Lys) c.3630C>G (p.Asn1210Lys) | |
6 | g.33164903G= | CA1619890508 | COL11A2 | n.618C= c.4812C= (p.Asn1604=) c.4491C= (p.Asn1497=) c.4554C= (p.Asn1518=) n.602C= c.3966C= (p.Asn1322=) c.4098C= (p.Asn1366=) c.3918C= (p.Asn1306=) c.3855C= (p.Asn1285=) c.3699C= (p.Asn1233=) c.3630C= (p.Asn1210=) | |
6 | g.33164903G>T | CA363617577 | COL11A2 | n.618C>A c.4812C>A (p.Asn1604Lys) c.4491C>A (p.Asn1497Lys) c.4554C>A (p.Asn1518Lys) n.602C>A c.3966C>A (p.Asn1322Lys) c.4098C>A (p.Asn1366Lys) c.3918C>A (p.Asn1306Lys) c.3855C>A (p.Asn1285Lys) c.3699C>A (p.Asn1233Lys) c.3630C>A (p.Asn1210Lys) | gnomAD v4 |
6 | g.33164904T>A | CA363617581 | COL11A2 | n.617A>T c.4811A>T (p.Asn1604Ile) c.4490A>T (p.Asn1497Ile) c.4553A>T (p.Asn1518Ile) n.601A>T c.3965A>T (p.Asn1322Ile) c.4097A>T (p.Asn1366Ile) c.3917A>T (p.Asn1306Ile) c.3854A>T (p.Asn1285Ile) c.3698A>T (p.Asn1233Ile) c.3629A>T (p.Asn1210Ile) | |
6 | g.33164904T>C | CA363617582 | COL11A2 | n.617A>G c.4811A>G (p.Asn1604Ser) c.4490A>G (p.Asn1497Ser) c.4553A>G (p.Asn1518Ser) n.601A>G c.3965A>G (p.Asn1322Ser) c.4097A>G (p.Asn1366Ser) c.3917A>G (p.Asn1306Ser) c.3854A>G (p.Asn1285Ser) c.3698A>G (p.Asn1233Ser) c.3629A>G (p.Asn1210Ser) | dbSNP gnomAD v4 |
6 | g.33164904T>G | CA363617584 | COL11A2 | n.617A>C c.4811A>C (p.Asn1604Thr) c.4490A>C (p.Asn1497Thr) c.4553A>C (p.Asn1518Thr) n.601A>C c.3965A>C (p.Asn1322Thr) c.4097A>C (p.Asn1366Thr) c.3917A>C (p.Asn1306Thr) c.3854A>C (p.Asn1285Thr) c.3698A>C (p.Asn1233Thr) c.3629A>C (p.Asn1210Thr) | dbSNP |
6 | g.33164904T= | CA1619890511 | COL11A2 | n.617A= c.4811A= (p.Asn1604=) c.4490A= (p.Asn1497=) c.4553A= (p.Asn1518=) n.601A= c.3965A= (p.Asn1322=) c.4097A= (p.Asn1366=) c.3917A= (p.Asn1306=) c.3854A= (p.Asn1285=) c.3698A= (p.Asn1233=) c.3629A= (p.Asn1210=) | |
6 | g.33164905del | CA2739273022 | COL11A2 | n.617del c.4811del (p.Asn1604ThrfsTer10) c.4490del (p.Asn1497ThrfsTer10) c.4553del (p.Asn1518ThrfsTer10) n.601del c.3965del (p.Asn1322ThrfsTer10) c.4097del (p.Asn1366ThrfsTer10) c.3917del (p.Asn1306ThrfsTer10) c.3854del (p.Asn1285ThrfsTer10) c.3698del (p.Asn1233ThrfsTer10) c.3629del (p.Asn1210ThrfsTer10) | ClinVar |
6 | g.33164908_33164909insCAGAGCTTTGCA | CA2678226374 | COL11A2 | n.617_618insAGCTCTGTGCAA c.4811_4812insAGCTCTGTGCAA (p.Cys1603_Asn1604insLysAlaLeuCys) c.4490_4491insAGCTCTGTGCAA (p.Cys1496_Asn1497insLysAlaLeuCys) c.4553_4554insAGCTCTGTGCAA (p.Cys1517_Asn1518insLysAlaLeuCys) n.601_602insAGCTCTGTGCAA c.3965_3966insAGCTCTGTGCAA (p.Cys1321_Asn1322insLysAlaLeuCys) c.4097_4098insAGCTCTGTGCAA (p.Cys1365_Asn1366insLysAlaLeuCys) c.3917_3918insAGCTCTGTGCAA (p.Cys1305_Asn1306insLysAlaLeuCys) c.3854_3855insAGCTCTGTGCAA (p.Cys1284_Asn1285insLysAlaLeuCys) c.3698_3699insAGCTCTGTGCAA (p.Cys1232_Asn1233insLysAlaLeuCys) c.3629_3630insAGCTCTGTGCAA (p.Cys1209_Asn1210insLysAlaLeuCys) | gnomAD v4 |
6 | g.33164905T>A | CA363617587 | COL11A2 | n.616A>T c.4810A>T (p.Asn1604Tyr) c.4489A>T (p.Asn1497Tyr) c.4552A>T (p.Asn1518Tyr) n.600A>T c.3964A>T (p.Asn1322Tyr) c.4096A>T (p.Asn1366Tyr) c.3916A>T (p.Asn1306Tyr) c.3853A>T (p.Asn1285Tyr) c.3697A>T (p.Asn1233Tyr) c.3628A>T (p.Asn1210Tyr) | |
6 | g.33164905T>C | CA363617588 | COL11A2 | n.616A>G c.4810A>G (p.Asn1604Asp) c.4489A>G (p.Asn1497Asp) c.4552A>G (p.Asn1518Asp) n.600A>G c.3964A>G (p.Asn1322Asp) c.4096A>G (p.Asn1366Asp) c.3916A>G (p.Asn1306Asp) c.3853A>G (p.Asn1285Asp) c.3697A>G (p.Asn1233Asp) c.3628A>G (p.Asn1210Asp) | gnomAD v4 |
6 | g.33164905T>G | CA363617590 | COL11A2 | n.616A>C c.4810A>C (p.Asn1604His) c.4489A>C (p.Asn1497His) c.4552A>C (p.Asn1518His) n.600A>C c.3964A>C (p.Asn1322His) c.4096A>C (p.Asn1366His) c.3916A>C (p.Asn1306His) c.3853A>C (p.Asn1285His) c.3697A>C (p.Asn1233His) c.3628A>C (p.Asn1210His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164905T= | CA1619890515 | COL11A2 | n.616A= c.4810A= (p.Asn1604=) c.4489A= (p.Asn1497=) c.4552A= (p.Asn1518=) n.600A= c.3964A= (p.Asn1322=) c.4096A= (p.Asn1366=) c.3916A= (p.Asn1306=) c.3853A= (p.Asn1285=) c.3697A= (p.Asn1233=) c.3628A= (p.Asn1210=) | |
6 | g.33164906G>A | CA449867297 | COL11A2 | n.615C>T c.4809C>T (p.Cys1603=) c.4488C>T (p.Cys1496=) c.4551C>T (p.Cys1517=) n.599C>T c.3963C>T (p.Cys1321=) c.4095C>T (p.Cys1365=) c.3915C>T (p.Cys1305=) c.3852C>T (p.Cys1284=) c.3696C>T (p.Cys1232=) c.3627C>T (p.Cys1209=) | gnomAD v4 |
6 | g.33164906G>C | CA363617592 | COL11A2 | n.615C>G c.4809C>G (p.Cys1603Trp) c.4488C>G (p.Cys1496Trp) c.4551C>G (p.Cys1517Trp) n.599C>G c.3963C>G (p.Cys1321Trp) c.4095C>G (p.Cys1365Trp) c.3915C>G (p.Cys1305Trp) c.3852C>G (p.Cys1284Trp) c.3696C>G (p.Cys1232Trp) c.3627C>G (p.Cys1209Trp) | |
6 | g.33164906G>T | CA363617593 | COL11A2 | n.615C>A c.4809C>A (p.Cys1603Ter) c.4488C>A (p.Cys1496Ter) c.4551C>A (p.Cys1517Ter) n.599C>A c.3963C>A (p.Cys1321Ter) c.4095C>A (p.Cys1365Ter) c.3915C>A (p.Cys1305Ter) c.3852C>A (p.Cys1284Ter) c.3696C>A (p.Cys1232Ter) c.3627C>A (p.Cys1209Ter) | gnomAD v4 |
6 | g.33164907C>A | CA363617595 | COL11A2 | n.614G>T c.4808G>T (p.Cys1603Phe) c.4487G>T (p.Cys1496Phe) c.4550G>T (p.Cys1517Phe) n.598G>T c.3962G>T (p.Cys1321Phe) c.4094G>T (p.Cys1365Phe) c.3914G>T (p.Cys1305Phe) c.3851G>T (p.Cys1284Phe) c.3695G>T (p.Cys1232Phe) c.3626G>T (p.Cys1209Phe) | gnomAD v4 |
6 | g.33164907C= | CA1619890517 | COL11A2 | n.614G= c.4808G= (p.Cys1603=) c.4487G= (p.Cys1496=) c.4550G= (p.Cys1517=) n.598G= c.3962G= (p.Cys1321=) c.4094G= (p.Cys1365=) c.3914G= (p.Cys1305=) c.3851G= (p.Cys1284=) c.3695G= (p.Cys1232=) c.3626G= (p.Cys1209=) | |
6 | g.33164907C>G | CA363617598 | COL11A2 | n.614G>C c.4808G>C (p.Cys1603Ser) c.4487G>C (p.Cys1496Ser) c.4550G>C (p.Cys1517Ser) n.598G>C c.3962G>C (p.Cys1321Ser) c.4094G>C (p.Cys1365Ser) c.3914G>C (p.Cys1305Ser) c.3851G>C (p.Cys1284Ser) c.3695G>C (p.Cys1232Ser) c.3626G>C (p.Cys1209Ser) | |
6 | g.33164907C>T | CA363617599 | COL11A2 | n.614G>A c.4808G>A (p.Cys1603Tyr) c.4487G>A (p.Cys1496Tyr) c.4550G>A (p.Cys1517Tyr) n.598G>A c.3962G>A (p.Cys1321Tyr) c.4094G>A (p.Cys1365Tyr) c.3914G>A (p.Cys1305Tyr) c.3851G>A (p.Cys1284Tyr) c.3695G>A (p.Cys1232Tyr) c.3626G>A (p.Cys1209Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164908A>C | CA363617601 | COL11A2 | n.613T>G c.4807T>G (p.Cys1603Gly) c.4486T>G (p.Cys1496Gly) c.4549T>G (p.Cys1517Gly) n.597T>G c.3961T>G (p.Cys1321Gly) c.4093T>G (p.Cys1365Gly) c.3913T>G (p.Cys1305Gly) c.3850T>G (p.Cys1284Gly) c.3694T>G (p.Cys1232Gly) c.3625T>G (p.Cys1209Gly) | |
6 | g.33164908A>G | CA363617603 | COL11A2 | n.613T>C c.4807T>C (p.Cys1603Arg) c.4486T>C (p.Cys1496Arg) c.4549T>C (p.Cys1517Arg) n.597T>C c.3961T>C (p.Cys1321Arg) c.4093T>C (p.Cys1365Arg) c.3913T>C (p.Cys1305Arg) c.3850T>C (p.Cys1284Arg) c.3694T>C (p.Cys1232Arg) c.3625T>C (p.Cys1209Arg) | gnomAD v4 |
6 | g.33164908A>T | CA363617604 | COL11A2 | n.613T>A c.4807T>A (p.Cys1603Ser) c.4486T>A (p.Cys1496Ser) c.4549T>A (p.Cys1517Ser) n.597T>A c.3961T>A (p.Cys1321Ser) c.4093T>A (p.Cys1365Ser) c.3913T>A (p.Cys1305Ser) c.3850T>A (p.Cys1284Ser) c.3694T>A (p.Cys1232Ser) c.3625T>A (p.Cys1209Ser) | gnomAD v4 |
6 | g.33164909G>A | CA449867298 | COL11A2 | n.612C>T c.4806C>T (p.Phe1602=) c.4485C>T (p.Phe1495=) c.4548C>T (p.Phe1516=) n.596C>T c.3960C>T (p.Phe1320=) c.4092C>T (p.Phe1364=) c.3912C>T (p.Phe1304=) c.3849C>T (p.Phe1283=) c.3693C>T (p.Phe1231=) c.3624C>T (p.Phe1208=) | gnomAD v4 |
6 | g.33164909G>C | CA363617607 | COL11A2 | n.612C>G c.4806C>G (p.Phe1602Leu) c.4485C>G (p.Phe1495Leu) c.4548C>G (p.Phe1516Leu) n.596C>G c.3960C>G (p.Phe1320Leu) c.4092C>G (p.Phe1364Leu) c.3912C>G (p.Phe1304Leu) c.3849C>G (p.Phe1283Leu) c.3693C>G (p.Phe1231Leu) c.3624C>G (p.Phe1208Leu) | |
6 | g.33164909G>T | CA363617608 | COL11A2 | n.612C>A c.4806C>A (p.Phe1602Leu) c.4485C>A (p.Phe1495Leu) c.4548C>A (p.Phe1516Leu) n.596C>A c.3960C>A (p.Phe1320Leu) c.4092C>A (p.Phe1364Leu) c.3912C>A (p.Phe1304Leu) c.3849C>A (p.Phe1283Leu) c.3693C>A (p.Phe1231Leu) c.3624C>A (p.Phe1208Leu) | gnomAD v4 |
6 | g.33164910A>C | CA363617610 | COL11A2 | n.611T>G c.4805T>G (p.Phe1602Cys) c.4484T>G (p.Phe1495Cys) c.4547T>G (p.Phe1516Cys) n.595T>G c.3959T>G (p.Phe1320Cys) c.4091T>G (p.Phe1364Cys) c.3911T>G (p.Phe1304Cys) c.3848T>G (p.Phe1283Cys) c.3692T>G (p.Phe1231Cys) c.3623T>G (p.Phe1208Cys) | |
6 | g.33164910A>G | CA363617612 | COL11A2 | n.611T>C c.4805T>C (p.Phe1602Ser) c.4484T>C (p.Phe1495Ser) c.4547T>C (p.Phe1516Ser) n.595T>C c.3959T>C (p.Phe1320Ser) c.4091T>C (p.Phe1364Ser) c.3911T>C (p.Phe1304Ser) c.3848T>C (p.Phe1283Ser) c.3692T>C (p.Phe1231Ser) c.3623T>C (p.Phe1208Ser) | |
6 | g.33164910A>T | CA363617614 | COL11A2 | n.611T>A c.4805T>A (p.Phe1602Tyr) c.4484T>A (p.Phe1495Tyr) c.4547T>A (p.Phe1516Tyr) n.595T>A c.3959T>A (p.Phe1320Tyr) c.4091T>A (p.Phe1364Tyr) c.3911T>A (p.Phe1304Tyr) c.3848T>A (p.Phe1283Tyr) c.3692T>A (p.Phe1231Tyr) c.3623T>A (p.Phe1208Tyr) | |
6 | g.33164911A>C | CA363617615 | COL11A2 | n.610T>G c.4804T>G (p.Phe1602Val) c.4483T>G (p.Phe1495Val) c.4546T>G (p.Phe1516Val) n.594T>G c.3958T>G (p.Phe1320Val) c.4090T>G (p.Phe1364Val) c.3910T>G (p.Phe1304Val) c.3847T>G (p.Phe1283Val) c.3691T>G (p.Phe1231Val) c.3622T>G (p.Phe1208Val) | gnomAD v4 |
6 | g.33164911A>G | CA363617617 | COL11A2 | n.610T>C c.4804T>C (p.Phe1602Leu) c.4483T>C (p.Phe1495Leu) c.4546T>C (p.Phe1516Leu) n.594T>C c.3958T>C (p.Phe1320Leu) c.4090T>C (p.Phe1364Leu) c.3910T>C (p.Phe1304Leu) c.3847T>C (p.Phe1283Leu) c.3691T>C (p.Phe1231Leu) c.3622T>C (p.Phe1208Leu) | gnomAD v4 |
6 | g.33164911A>T | CA363617618 | COL11A2 | n.610T>A c.4804T>A (p.Phe1602Ile) c.4483T>A (p.Phe1495Ile) c.4546T>A (p.Phe1516Ile) n.594T>A c.3958T>A (p.Phe1320Ile) c.4090T>A (p.Phe1364Ile) c.3910T>A (p.Phe1304Ile) c.3847T>A (p.Phe1283Ile) c.3691T>A (p.Phe1231Ile) c.3622T>A (p.Phe1208Ile) | |
6 | g.33164912A>C | CA449867301 | COL11A2 | n.609T>G c.4803T>G (p.Val1601=) c.4482T>G (p.Val1494=) c.4545T>G (p.Val1515=) n.593T>G c.3957T>G (p.Val1319=) c.4089T>G (p.Val1363=) c.3909T>G (p.Val1303=) c.3846T>G (p.Val1282=) c.3690T>G (p.Val1230=) c.3621T>G (p.Val1207=) | |
6 | g.33164912A>G | CA449867299 | COL11A2 | n.609T>C c.4803T>C (p.Val1601=) c.4482T>C (p.Val1494=) c.4545T>C (p.Val1515=) n.593T>C c.3957T>C (p.Val1319=) c.4089T>C (p.Val1363=) c.3909T>C (p.Val1303=) c.3846T>C (p.Val1282=) c.3690T>C (p.Val1230=) c.3621T>C (p.Val1207=) | |
6 | g.33164912A>T | CA449867300 | COL11A2 | n.609T>A c.4803T>A (p.Val1601=) c.4482T>A (p.Val1494=) c.4545T>A (p.Val1515=) n.593T>A c.3957T>A (p.Val1319=) c.4089T>A (p.Val1363=) c.3909T>A (p.Val1303=) c.3846T>A (p.Val1282=) c.3690T>A (p.Val1230=) c.3621T>A (p.Val1207=) | |
6 | g.33164913A>C | CA363617620 | COL11A2 | n.608T>G c.4802T>G (p.Val1601Gly) c.4481T>G (p.Val1494Gly) c.4544T>G (p.Val1515Gly) n.592T>G c.3956T>G (p.Val1319Gly) c.4088T>G (p.Val1363Gly) c.3908T>G (p.Val1303Gly) c.3845T>G (p.Val1282Gly) c.3689T>G (p.Val1230Gly) c.3620T>G (p.Val1207Gly) | |
6 | g.33164913A>G | CA363617621 | COL11A2 | n.608T>C c.4802T>C (p.Val1601Ala) c.4481T>C (p.Val1494Ala) c.4544T>C (p.Val1515Ala) n.592T>C c.3956T>C (p.Val1319Ala) c.4088T>C (p.Val1363Ala) c.3908T>C (p.Val1303Ala) c.3845T>C (p.Val1282Ala) c.3689T>C (p.Val1230Ala) c.3620T>C (p.Val1207Ala) | gnomAD v4 |
6 | g.33164913A>T | CA363617623 | COL11A2 | n.608T>A c.4802T>A (p.Val1601Asp) c.4481T>A (p.Val1494Asp) c.4544T>A (p.Val1515Asp) n.592T>A c.3956T>A (p.Val1319Asp) c.4088T>A (p.Val1363Asp) c.3908T>A (p.Val1303Asp) c.3845T>A (p.Val1282Asp) c.3689T>A (p.Val1230Asp) c.3620T>A (p.Val1207Asp) | |
6 | g.33164914C>A | CA363617625 | COL11A2 | n.607G>T c.4801G>T (p.Val1601Phe) c.4480G>T (p.Val1494Phe) c.4543G>T (p.Val1515Phe) n.591G>T c.3955G>T (p.Val1319Phe) c.4087G>T (p.Val1363Phe) c.3907G>T (p.Val1303Phe) c.3844G>T (p.Val1282Phe) c.3688G>T (p.Val1230Phe) c.3619G>T (p.Val1207Phe) | gnomAD v4 |
6 | g.33164914C>G | CA363617627 | COL11A2 | n.607G>C c.4801G>C (p.Val1601Leu) c.4480G>C (p.Val1494Leu) c.4543G>C (p.Val1515Leu) n.591G>C c.3955G>C (p.Val1319Leu) c.4087G>C (p.Val1363Leu) c.3907G>C (p.Val1303Leu) c.3844G>C (p.Val1282Leu) c.3688G>C (p.Val1230Leu) c.3619G>C (p.Val1207Leu) | |
6 | g.33164914C>T | CA363617629 | COL11A2 | n.607G>A c.4801G>A (p.Val1601Ile) c.4480G>A (p.Val1494Ile) c.4543G>A (p.Val1515Ile) n.591G>A c.3955G>A (p.Val1319Ile) c.4087G>A (p.Val1363Ile) c.3907G>A (p.Val1303Ile) c.3844G>A (p.Val1282Ile) c.3688G>A (p.Val1230Ile) c.3619G>A (p.Val1207Ile) | gnomAD v4 |
6 | g.33164915T>A | CA449867302 | COL11A2 | n.606A>T c.4800A>T (p.Arg1600=) c.4479A>T (p.Arg1493=) c.4542A>T (p.Arg1514=) n.590A>T c.3954A>T (p.Arg1318=) c.4086A>T (p.Arg1362=) c.3906A>T (p.Arg1302=) c.3843A>T (p.Arg1281=) c.3687A>T (p.Arg1229=) c.3618A>T (p.Arg1206=) | gnomAD v4 |
6 | g.33164915T>C | CA449867303 | COL11A2 | n.606A>G c.4800A>G (p.Arg1600=) c.4479A>G (p.Arg1493=) c.4542A>G (p.Arg1514=) n.590A>G c.3954A>G (p.Arg1318=) c.4086A>G (p.Arg1362=) c.3906A>G (p.Arg1302=) c.3843A>G (p.Arg1281=) c.3687A>G (p.Arg1229=) c.3618A>G (p.Arg1206=) | |
6 | g.33164915T>G | CA449867304 | COL11A2 | n.606A>C c.4800A>C (p.Arg1600=) c.4479A>C (p.Arg1493=) c.4542A>C (p.Arg1514=) n.590A>C c.3954A>C (p.Arg1318=) c.4086A>C (p.Arg1362=) c.3906A>C (p.Arg1302=) c.3843A>C (p.Arg1281=) c.3687A>C (p.Arg1229=) c.3618A>C (p.Arg1206=) | |
6 | g.33164916C>A | CA363617632 | COL11A2 | n.605G>T c.4799G>T (p.Arg1600Leu) c.4478G>T (p.Arg1493Leu) c.4541G>T (p.Arg1514Leu) n.589G>T c.3953G>T (p.Arg1318Leu) c.4085G>T (p.Arg1362Leu) c.3905G>T (p.Arg1302Leu) c.3842G>T (p.Arg1281Leu) c.3686G>T (p.Arg1229Leu) c.3617G>T (p.Arg1206Leu) | gnomAD v4 |
6 | g.33164916C= | CA1619890522 | COL11A2 | n.605G= c.4799G= (p.Arg1600=) c.4478G= (p.Arg1493=) c.4541G= (p.Arg1514=) n.589G= c.3953G= (p.Arg1318=) c.4085G= (p.Arg1362=) c.3905G= (p.Arg1302=) c.3842G= (p.Arg1281=) c.3686G= (p.Arg1229=) c.3617G= (p.Arg1206=) | |
6 | g.33164916C>G | CA363617634 | COL11A2 | n.605G>C c.4799G>C (p.Arg1600Pro) c.4478G>C (p.Arg1493Pro) c.4541G>C (p.Arg1514Pro) n.589G>C c.3953G>C (p.Arg1318Pro) c.4085G>C (p.Arg1362Pro) c.3905G>C (p.Arg1302Pro) c.3842G>C (p.Arg1281Pro) c.3686G>C (p.Arg1229Pro) c.3617G>C (p.Arg1206Pro) | gnomAD v4 |
6 | g.33164916C>T | CA182640 | COL11A2 | n.605G>A c.4799G>A (p.Arg1600Gln) c.4478G>A (p.Arg1493Gln) c.4541G>A (p.Arg1514Gln) n.589G>A c.3953G>A (p.Arg1318Gln) c.4085G>A (p.Arg1362Gln) c.3905G>A (p.Arg1302Gln) c.3842G>A (p.Arg1281Gln) c.3686G>A (p.Arg1229Gln) c.3617G>A (p.Arg1206Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164917G>A | CA363617637 | COL11A2 | n.604C>T c.4798C>T (p.Arg1600Ter) c.4477C>T (p.Arg1493Ter) c.4540C>T (p.Arg1514Ter) n.588C>T c.3952C>T (p.Arg1318Ter) c.4084C>T (p.Arg1362Ter) c.3904C>T (p.Arg1302Ter) c.3841C>T (p.Arg1281Ter) c.3685C>T (p.Arg1229Ter) c.3616C>T (p.Arg1206Ter) | ClinVar gnomAD v4 |
6 | g.33164917G>C | CA363617639 | COL11A2 | n.604C>G c.4798C>G (p.Arg1600Gly) c.4477C>G (p.Arg1493Gly) c.4540C>G (p.Arg1514Gly) n.588C>G c.3952C>G (p.Arg1318Gly) c.4084C>G (p.Arg1362Gly) c.3904C>G (p.Arg1302Gly) c.3841C>G (p.Arg1281Gly) c.3685C>G (p.Arg1229Gly) c.3616C>G (p.Arg1206Gly) | |
6 | g.33164917G>T | CA449867305 | COL11A2 | n.604C>A c.4798C>A (p.Arg1600=) c.4477C>A (p.Arg1493=) c.4540C>A (p.Arg1514=) n.588C>A c.3952C>A (p.Arg1318=) c.4084C>A (p.Arg1362=) c.3904C>A (p.Arg1302=) c.3841C>A (p.Arg1281=) c.3685C>A (p.Arg1229=) c.3616C>A (p.Arg1206=) | gnomAD v4 |
6 | g.33164918G>A | CA449867306 | COL11A2 | n.603C>T c.4797C>T (p.Phe1599=) c.4476C>T (p.Phe1492=) c.4539C>T (p.Phe1513=) n.587C>T c.3951C>T (p.Phe1317=) c.4083C>T (p.Phe1361=) c.3903C>T (p.Phe1301=) c.3840C>T (p.Phe1280=) c.3684C>T (p.Phe1228=) c.3615C>T (p.Phe1205=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164918G>C | CA363617641 | COL11A2 | n.603C>G c.4797C>G (p.Phe1599Leu) c.4476C>G (p.Phe1492Leu) c.4539C>G (p.Phe1513Leu) n.587C>G c.3951C>G (p.Phe1317Leu) c.4083C>G (p.Phe1361Leu) c.3903C>G (p.Phe1301Leu) c.3840C>G (p.Phe1280Leu) c.3684C>G (p.Phe1228Leu) c.3615C>G (p.Phe1205Leu) | |
6 | g.33164918G= | CA1619890530 | COL11A2 | n.603C= c.4797C= (p.Phe1599=) c.4476C= (p.Phe1492=) c.4539C= (p.Phe1513=) n.587C= c.3951C= (p.Phe1317=) c.4083C= (p.Phe1361=) c.3903C= (p.Phe1301=) c.3840C= (p.Phe1280=) c.3684C= (p.Phe1228=) c.3615C= (p.Phe1205=) | |
6 | g.33164918G>T | CA363617642 | COL11A2 | n.603C>A c.4797C>A (p.Phe1599Leu) c.4476C>A (p.Phe1492Leu) c.4539C>A (p.Phe1513Leu) n.587C>A c.3951C>A (p.Phe1317Leu) c.4083C>A (p.Phe1361Leu) c.3903C>A (p.Phe1301Leu) c.3840C>A (p.Phe1280Leu) c.3684C>A (p.Phe1228Leu) c.3615C>A (p.Phe1205Leu) | gnomAD v4 |
6 | g.33164919A>C | CA363617648 | COL11A2 | n.602T>G c.4796T>G (p.Phe1599Cys) c.4475T>G (p.Phe1492Cys) c.4538T>G (p.Phe1513Cys) n.586T>G c.3950T>G (p.Phe1317Cys) c.4082T>G (p.Phe1361Cys) c.3902T>G (p.Phe1301Cys) c.3839T>G (p.Phe1280Cys) c.3683T>G (p.Phe1228Cys) c.3614T>G (p.Phe1205Cys) | |
6 | g.33164919A>G | CA363617647 | COL11A2 | n.602T>C c.4796T>C (p.Phe1599Ser) c.4475T>C (p.Phe1492Ser) c.4538T>C (p.Phe1513Ser) n.586T>C c.3950T>C (p.Phe1317Ser) c.4082T>C (p.Phe1361Ser) c.3902T>C (p.Phe1301Ser) c.3839T>C (p.Phe1280Ser) c.3683T>C (p.Phe1228Ser) c.3614T>C (p.Phe1205Ser) | |
6 | g.33164919A>T | CA363617645 | COL11A2 | n.602T>A c.4796T>A (p.Phe1599Tyr) c.4475T>A (p.Phe1492Tyr) c.4538T>A (p.Phe1513Tyr) n.586T>A c.3950T>A (p.Phe1317Tyr) c.4082T>A (p.Phe1361Tyr) c.3902T>A (p.Phe1301Tyr) c.3839T>A (p.Phe1280Tyr) c.3683T>A (p.Phe1228Tyr) c.3614T>A (p.Phe1205Tyr) | |
6 | g.33164920A>C | CA363617650 | COL11A2 | n.601T>G c.4795T>G (p.Phe1599Val) c.4474T>G (p.Phe1492Val) c.4537T>G (p.Phe1513Val) n.585T>G c.3949T>G (p.Phe1317Val) c.4081T>G (p.Phe1361Val) c.3901T>G (p.Phe1301Val) c.3838T>G (p.Phe1280Val) c.3682T>G (p.Phe1228Val) c.3613T>G (p.Phe1205Val) | |
6 | g.33164920A>G | CA363617652 | COL11A2 | n.601T>C c.4795T>C (p.Phe1599Leu) c.4474T>C (p.Phe1492Leu) c.4537T>C (p.Phe1513Leu) n.585T>C c.3949T>C (p.Phe1317Leu) c.4081T>C (p.Phe1361Leu) c.3901T>C (p.Phe1301Leu) c.3838T>C (p.Phe1280Leu) c.3682T>C (p.Phe1228Leu) c.3613T>C (p.Phe1205Leu) | gnomAD v4 |
6 | g.33164920A>T | CA363617654 | COL11A2 | n.601T>A c.4795T>A (p.Phe1599Ile) c.4474T>A (p.Phe1492Ile) c.4537T>A (p.Phe1513Ile) n.585T>A c.3949T>A (p.Phe1317Ile) c.4081T>A (p.Phe1361Ile) c.3901T>A (p.Phe1301Ile) c.3838T>A (p.Phe1280Ile) c.3682T>A (p.Phe1228Ile) c.3613T>A (p.Phe1205Ile) | gnomAD v4 |
6 | g.33164921G>A | CA449867307 | COL11A2 | n.600C>T c.4794C>T (p.Ala1598=) c.4473C>T (p.Ala1491=) c.4536C>T (p.Ala1512=) n.584C>T c.3948C>T (p.Ala1316=) c.4080C>T (p.Ala1360=) c.3900C>T (p.Ala1300=) c.3837C>T (p.Ala1279=) c.3681C>T (p.Ala1227=) c.3612C>T (p.Ala1204=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164921G>C | CA449867308 | COL11A2 | n.600C>G c.4794C>G (p.Ala1598=) c.4473C>G (p.Ala1491=) c.4536C>G (p.Ala1512=) n.584C>G c.3948C>G (p.Ala1316=) c.4080C>G (p.Ala1360=) c.3900C>G (p.Ala1300=) c.3837C>G (p.Ala1279=) c.3681C>G (p.Ala1227=) c.3612C>G (p.Ala1204=) | |
6 | g.33164921G= | CA1619890536 | COL11A2 | n.600C= c.4794C= (p.Ala1598=) c.4473C= (p.Ala1491=) c.4536C= (p.Ala1512=) n.584C= c.3948C= (p.Ala1316=) c.4080C= (p.Ala1360=) c.3900C= (p.Ala1300=) c.3837C= (p.Ala1279=) c.3681C= (p.Ala1227=) c.3612C= (p.Ala1204=) | |
6 | g.33164921G>T | CA449867309 | COL11A2 | n.600C>A c.4794C>A (p.Ala1598=) c.4473C>A (p.Ala1491=) c.4536C>A (p.Ala1512=) n.584C>A c.3948C>A (p.Ala1316=) c.4080C>A (p.Ala1360=) c.3900C>A (p.Ala1300=) c.3837C>A (p.Ala1279=) c.3681C>A (p.Ala1227=) c.3612C>A (p.Ala1204=) | gnomAD v4 |
6 | g.33164922G>A | CA363617656 | COL11A2 | n.599C>T c.4793C>T (p.Ala1598Val) c.4472C>T (p.Ala1491Val) c.4535C>T (p.Ala1512Val) n.583C>T c.3947C>T (p.Ala1316Val) c.4079C>T (p.Ala1360Val) c.3899C>T (p.Ala1300Val) c.3836C>T (p.Ala1279Val) c.3680C>T (p.Ala1227Val) c.3611C>T (p.Ala1204Val) | gnomAD v4 |
6 | g.33164922G>C | CA363617659 | COL11A2 | n.599C>G c.4793C>G (p.Ala1598Gly) c.4472C>G (p.Ala1491Gly) c.4535C>G (p.Ala1512Gly) n.583C>G c.3947C>G (p.Ala1316Gly) c.4079C>G (p.Ala1360Gly) c.3899C>G (p.Ala1300Gly) c.3836C>G (p.Ala1279Gly) c.3680C>G (p.Ala1227Gly) c.3611C>G (p.Ala1204Gly) | |
6 | g.33164922G>T | CA363617661 | COL11A2 | n.599C>A c.4793C>A (p.Ala1598Asp) c.4472C>A (p.Ala1491Asp) c.4535C>A (p.Ala1512Asp) n.583C>A c.3947C>A (p.Ala1316Asp) c.4079C>A (p.Ala1360Asp) c.3899C>A (p.Ala1300Asp) c.3836C>A (p.Ala1279Asp) c.3680C>A (p.Ala1227Asp) c.3611C>A (p.Ala1204Asp) | |
6 | g.33164923C>A | CA363617667 | COL11A2 | n.598G>T c.4792G>T (p.Ala1598Ser) c.4471G>T (p.Ala1491Ser) c.4534G>T (p.Ala1512Ser) n.582G>T c.3946G>T (p.Ala1316Ser) c.4078G>T (p.Ala1360Ser) c.3898G>T (p.Ala1300Ser) c.3835G>T (p.Ala1279Ser) c.3679G>T (p.Ala1227Ser) c.3610G>T (p.Ala1204Ser) | gnomAD v4 |
6 | g.33164923C>G | CA363617665 | COL11A2 | n.598G>C c.4792G>C (p.Ala1598Pro) c.4471G>C (p.Ala1491Pro) c.4534G>C (p.Ala1512Pro) n.582G>C c.3946G>C (p.Ala1316Pro) c.4078G>C (p.Ala1360Pro) c.3898G>C (p.Ala1300Pro) c.3835G>C (p.Ala1279Pro) c.3679G>C (p.Ala1227Pro) c.3610G>C (p.Ala1204Pro) | |
6 | g.33164923C>T | CA363617664 | COL11A2 | n.598G>A c.4792G>A (p.Ala1598Thr) c.4471G>A (p.Ala1491Thr) c.4534G>A (p.Ala1512Thr) n.582G>A c.3946G>A (p.Ala1316Thr) c.4078G>A (p.Ala1360Thr) c.3898G>A (p.Ala1300Thr) c.3835G>A (p.Ala1279Thr) c.3679G>A (p.Ala1227Thr) c.3610G>A (p.Ala1204Thr) | gnomAD v4 |
6 | g.33164924A>C | CA363617669 | COL11A2 | n.597T>G c.4791T>G (p.Asp1597Glu) c.4470T>G (p.Asp1490Glu) c.4533T>G (p.Asp1511Glu) n.581T>G c.3945T>G (p.Asp1315Glu) c.4077T>G (p.Asp1359Glu) c.3897T>G (p.Asp1299Glu) c.3834T>G (p.Asp1278Glu) c.3678T>G (p.Asp1226Glu) c.3609T>G (p.Asp1203Glu) | |
6 | g.33164924A>G | CA449867310 | COL11A2 | n.597T>C c.4791T>C (p.Asp1597=) c.4470T>C (p.Asp1490=) c.4533T>C (p.Asp1511=) n.581T>C c.3945T>C (p.Asp1315=) c.4077T>C (p.Asp1359=) c.3897T>C (p.Asp1299=) c.3834T>C (p.Asp1278=) c.3678T>C (p.Asp1226=) c.3609T>C (p.Asp1203=) | |
6 | g.33164924A>T | CA363617671 | COL11A2 | n.597T>A c.4791T>A (p.Asp1597Glu) c.4470T>A (p.Asp1490Glu) c.4533T>A (p.Asp1511Glu) n.581T>A c.3945T>A (p.Asp1315Glu) c.4077T>A (p.Asp1359Glu) c.3897T>A (p.Asp1299Glu) c.3834T>A (p.Asp1278Glu) c.3678T>A (p.Asp1226Glu) c.3609T>A (p.Asp1203Glu) | |
6 | g.33164925T>A | CA363617672 | COL11A2 | n.596A>T c.4790A>T (p.Asp1597Val) c.4469A>T (p.Asp1490Val) c.4532A>T (p.Asp1511Val) n.580A>T c.3944A>T (p.Asp1315Val) c.4076A>T (p.Asp1359Val) c.3896A>T (p.Asp1299Val) c.3833A>T (p.Asp1278Val) c.3677A>T (p.Asp1226Val) c.3608A>T (p.Asp1203Val) | gnomAD v4 |
6 | g.33164925T>C | CA363617674 | COL11A2 | n.596A>G c.4790A>G (p.Asp1597Gly) c.4469A>G (p.Asp1490Gly) c.4532A>G (p.Asp1511Gly) n.580A>G c.3944A>G (p.Asp1315Gly) c.4076A>G (p.Asp1359Gly) c.3896A>G (p.Asp1299Gly) c.3833A>G (p.Asp1278Gly) c.3677A>G (p.Asp1226Gly) c.3608A>G (p.Asp1203Gly) | |
6 | g.33164925T>G | CA363617675 | COL11A2 | n.596A>C c.4790A>C (p.Asp1597Ala) c.4469A>C (p.Asp1490Ala) c.4532A>C (p.Asp1511Ala) n.580A>C c.3944A>C (p.Asp1315Ala) c.4076A>C (p.Asp1359Ala) c.3896A>C (p.Asp1299Ala) c.3833A>C (p.Asp1278Ala) c.3677A>C (p.Asp1226Ala) c.3608A>C (p.Asp1203Ala) | |
6 | g.33164926C>A | CA363617677 | COL11A2 | n.595G>T c.4789G>T (p.Asp1597Tyr) c.4468G>T (p.Asp1490Tyr) c.4531G>T (p.Asp1511Tyr) n.579G>T c.3943G>T (p.Asp1315Tyr) c.4075G>T (p.Asp1359Tyr) c.3895G>T (p.Asp1299Tyr) c.3832G>T (p.Asp1278Tyr) c.3676G>T (p.Asp1226Tyr) c.3607G>T (p.Asp1203Tyr) | gnomAD v4 |
6 | g.33164926C= | CA1619890538 | COL11A2 | n.595G= c.4789G= (p.Asp1597=) c.4468G= (p.Asp1490=) c.4531G= (p.Asp1511=) n.579G= c.3943G= (p.Asp1315=) c.4075G= (p.Asp1359=) c.3895G= (p.Asp1299=) c.3832G= (p.Asp1278=) c.3676G= (p.Asp1226=) c.3607G= (p.Asp1203=) | |
6 | g.33164926C>G | CA363617679 | COL11A2 | n.595G>C c.4789G>C (p.Asp1597His) c.4468G>C (p.Asp1490His) c.4531G>C (p.Asp1511His) n.579G>C c.3943G>C (p.Asp1315His) c.4075G>C (p.Asp1359His) c.3895G>C (p.Asp1299His) c.3832G>C (p.Asp1278His) c.3676G>C (p.Asp1226His) c.3607G>C (p.Asp1203His) | |
6 | g.33164926C>T | CA363617681 | COL11A2 | n.595G>A c.4789G>A (p.Asp1597Asn) c.4468G>A (p.Asp1490Asn) c.4531G>A (p.Asp1511Asn) n.579G>A c.3943G>A (p.Asp1315Asn) c.4075G>A (p.Asp1359Asn) c.3895G>A (p.Asp1299Asn) c.3832G>A (p.Asp1278Asn) c.3676G>A (p.Asp1226Asn) c.3607G>A (p.Asp1203Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164928del | CA2739273023 | COL11A2 | n.595del c.4789del (p.Asp1597MetfsTer17) c.4468del (p.Asp1490MetfsTer17) c.4531del (p.Asp1511MetfsTer17) n.579del c.3943del (p.Asp1315MetfsTer17) c.4075del (p.Asp1359MetfsTer17) c.3895del (p.Asp1299MetfsTer17) c.3832del (p.Asp1278MetfsTer17) c.3676del (p.Asp1226MetfsTer17) c.3607del (p.Asp1203MetfsTer17) | ClinVar |
6 | g.33164927C>A | CA449867311 | COL11A2 | n.594G>T c.4788G>T (p.Arg1596=) c.4467G>T (p.Arg1489=) c.4530G>T (p.Arg1510=) n.578G>T c.3942G>T (p.Arg1314=) c.4074G>T (p.Arg1358=) c.3894G>T (p.Arg1298=) c.3831G>T (p.Arg1277=) c.3675G>T (p.Arg1225=) c.3606G>T (p.Arg1202=) | gnomAD v4 |
6 | g.33164927C>G | CA449867312 | COL11A2 | n.594G>C c.4788G>C (p.Arg1596=) c.4467G>C (p.Arg1489=) c.4530G>C (p.Arg1510=) n.578G>C c.3942G>C (p.Arg1314=) c.4074G>C (p.Arg1358=) c.3894G>C (p.Arg1298=) c.3831G>C (p.Arg1277=) c.3675G>C (p.Arg1225=) c.3606G>C (p.Arg1202=) | gnomAD v4 |
6 | g.33164927C>T | CA449867313 | COL11A2 | n.594G>A c.4788G>A (p.Arg1596=) c.4467G>A (p.Arg1489=) c.4530G>A (p.Arg1510=) n.578G>A c.3942G>A (p.Arg1314=) c.4074G>A (p.Arg1358=) c.3894G>A (p.Arg1298=) c.3831G>A (p.Arg1277=) c.3675G>A (p.Arg1225=) c.3606G>A (p.Arg1202=) | gnomAD v4 |
6 | g.33164927_33164933delinsCCGAGCA | CA1619890540 | COL11A2 | n.588_594delinsTGCTCGG c.4782_4788delinsTGCTCGG (p.Cys1594=) c.4461_4467delinsTGCTCGG (p.Cys1487=) c.4524_4530delinsTGCTCGG (p.Cys1508=) n.572_578delinsTGCTCGG c.3936_3942delinsTGCTCGG (p.Cys1312=) c.4068_4074delinsTGCTCGG (p.Cys1356=) c.3888_3894delinsTGCTCGG (p.Cys1296=) c.3825_3831delinsTGCTCGG (p.Cys1275=) c.3669_3675delinsTGCTCGG (p.Cys1223=) c.3600_3606delinsTGCTCGG (p.Cys1200=) | |
6 | g.33164928C>A | CA363617686 | COL11A2 | n.593G>T c.4787G>T (p.Arg1596Leu) c.4466G>T (p.Arg1489Leu) c.4529G>T (p.Arg1510Leu) n.577G>T c.3941G>T (p.Arg1314Leu) c.4073G>T (p.Arg1358Leu) c.3893G>T (p.Arg1298Leu) c.3830G>T (p.Arg1277Leu) c.3674G>T (p.Arg1225Leu) c.3605G>T (p.Arg1202Leu) | gnomAD v4 |
6 | g.33164928C= | CA1619890544 | COL11A2 | n.593G= c.4787G= (p.Arg1596=) c.4466G= (p.Arg1489=) c.4529G= (p.Arg1510=) n.577G= c.3941G= (p.Arg1314=) c.4073G= (p.Arg1358=) c.3893G= (p.Arg1298=) c.3830G= (p.Arg1277=) c.3674G= (p.Arg1225=) c.3605G= (p.Arg1202=) | |
6 | g.33164928C>G | CA363617685 | COL11A2 | n.593G>C c.4787G>C (p.Arg1596Pro) c.4466G>C (p.Arg1489Pro) c.4529G>C (p.Arg1510Pro) n.577G>C c.3941G>C (p.Arg1314Pro) c.4073G>C (p.Arg1358Pro) c.3893G>C (p.Arg1298Pro) c.3830G>C (p.Arg1277Pro) c.3674G>C (p.Arg1225Pro) c.3605G>C (p.Arg1202Pro) | |
6 | g.33164928C>T | CA137061744 | COL11A2 | n.593G>A c.4787G>A (p.Arg1596Gln) c.4466G>A (p.Arg1489Gln) c.4529G>A (p.Arg1510Gln) n.577G>A c.3941G>A (p.Arg1314Gln) c.4073G>A (p.Arg1358Gln) c.3893G>A (p.Arg1298Gln) c.3830G>A (p.Arg1277Gln) c.3674G>A (p.Arg1225Gln) c.3605G>A (p.Arg1202Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164929_33164934del | CA3749994 | COL11A2 | n.588_593del c.4782_4787del (p.Cys1594_Arg1596delinsTrp) c.4461_4466del (p.Cys1487_Arg1489delinsTrp) c.4524_4529del (p.Cys1508_Arg1510delinsTrp) n.572_577del c.3936_3941del (p.Cys1312_Arg1314delinsTrp) c.4068_4073del (p.Cys1356_Arg1358delinsTrp) c.3888_3893del (p.Cys1296_Arg1298delinsTrp) c.3825_3830del (p.Cys1275_Arg1277delinsTrp) c.3669_3674del (p.Cys1223_Arg1225delinsTrp) c.3600_3605del (p.Cys1200_Arg1202delinsTrp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164929G>A | CA3749995 | COL11A2 | n.592C>T c.4786C>T (p.Arg1596Trp) c.4465C>T (p.Arg1489Trp) c.4528C>T (p.Arg1510Trp) n.576C>T c.3940C>T (p.Arg1314Trp) c.4072C>T (p.Arg1358Trp) c.3892C>T (p.Arg1298Trp) c.3829C>T (p.Arg1277Trp) c.3673C>T (p.Arg1225Trp) c.3604C>T (p.Arg1202Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164929G>C | CA363617691 | COL11A2 | n.592C>G c.4786C>G (p.Arg1596Gly) c.4465C>G (p.Arg1489Gly) c.4528C>G (p.Arg1510Gly) n.576C>G c.3940C>G (p.Arg1314Gly) c.4072C>G (p.Arg1358Gly) c.3892C>G (p.Arg1298Gly) c.3829C>G (p.Arg1277Gly) c.3673C>G (p.Arg1225Gly) c.3604C>G (p.Arg1202Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164929G= | CA1619890549 | COL11A2 | n.592C= c.4786C= (p.Arg1596=) c.4465C= (p.Arg1489=) c.4528C= (p.Arg1510=) n.576C= c.3940C= (p.Arg1314=) c.4072C= (p.Arg1358=) c.3892C= (p.Arg1298=) c.3829C= (p.Arg1277=) c.3673C= (p.Arg1225=) c.3604C= (p.Arg1202=) | |
6 | g.33164929G>T | CA449867314 | COL11A2 | n.592C>A c.4786C>A (p.Arg1596=) c.4465C>A (p.Arg1489=) c.4528C>A (p.Arg1510=) n.576C>A c.3940C>A (p.Arg1314=) c.4072C>A (p.Arg1358=) c.3892C>A (p.Arg1298=) c.3829C>A (p.Arg1277=) c.3673C>A (p.Arg1225=) c.3604C>A (p.Arg1202=) | gnomAD v4 |
6 | g.33164930A>C | CA449867315 | COL11A2 | n.591T>G c.4785T>G (p.Ala1595=) c.4464T>G (p.Ala1488=) c.4527T>G (p.Ala1509=) n.575T>G c.3939T>G (p.Ala1313=) c.4071T>G (p.Ala1357=) c.3891T>G (p.Ala1297=) c.3828T>G (p.Ala1276=) c.3672T>G (p.Ala1224=) c.3603T>G (p.Ala1201=) | |
6 | g.33164930A>G | CA449867316 | COL11A2 | n.591T>C c.4785T>C (p.Ala1595=) c.4464T>C (p.Ala1488=) c.4527T>C (p.Ala1509=) n.575T>C c.3939T>C (p.Ala1313=) c.4071T>C (p.Ala1357=) c.3891T>C (p.Ala1297=) c.3828T>C (p.Ala1276=) c.3672T>C (p.Ala1224=) c.3603T>C (p.Ala1201=) | |
6 | g.33164930A>T | CA449867317 | COL11A2 | n.591T>A c.4785T>A (p.Ala1595=) c.4464T>A (p.Ala1488=) c.4527T>A (p.Ala1509=) n.575T>A c.3939T>A (p.Ala1313=) c.4071T>A (p.Ala1357=) c.3891T>A (p.Ala1297=) c.3828T>A (p.Ala1276=) c.3672T>A (p.Ala1224=) c.3603T>A (p.Ala1201=) | |
6 | g.33164931G>A | CA363617694 | COL11A2 | n.590C>T c.4784C>T (p.Ala1595Val) c.4463C>T (p.Ala1488Val) c.4526C>T (p.Ala1509Val) n.574C>T c.3938C>T (p.Ala1313Val) c.4070C>T (p.Ala1357Val) c.3890C>T (p.Ala1297Val) c.3827C>T (p.Ala1276Val) c.3671C>T (p.Ala1224Val) c.3602C>T (p.Ala1201Val) | gnomAD v4 |
6 | g.33164931G>C | CA363617697 | COL11A2 | n.590C>G c.4784C>G (p.Ala1595Gly) c.4463C>G (p.Ala1488Gly) c.4526C>G (p.Ala1509Gly) n.574C>G c.3938C>G (p.Ala1313Gly) c.4070C>G (p.Ala1357Gly) c.3890C>G (p.Ala1297Gly) c.3827C>G (p.Ala1276Gly) c.3671C>G (p.Ala1224Gly) c.3602C>G (p.Ala1201Gly) | |
6 | g.33164931G>T | CA363617698 | COL11A2 | n.590C>A c.4784C>A (p.Ala1595Asp) c.4463C>A (p.Ala1488Asp) c.4526C>A (p.Ala1509Asp) n.574C>A c.3938C>A (p.Ala1313Asp) c.4070C>A (p.Ala1357Asp) c.3890C>A (p.Ala1297Asp) c.3827C>A (p.Ala1276Asp) c.3671C>A (p.Ala1224Asp) c.3602C>A (p.Ala1201Asp) | gnomAD v4 |
6 | g.33164932C>A | CA363617701 | COL11A2 | n.589G>T c.4783G>T (p.Ala1595Ser) c.4462G>T (p.Ala1488Ser) c.4525G>T (p.Ala1509Ser) n.573G>T c.3937G>T (p.Ala1313Ser) c.4069G>T (p.Ala1357Ser) c.3889G>T (p.Ala1297Ser) c.3826G>T (p.Ala1276Ser) c.3670G>T (p.Ala1224Ser) c.3601G>T (p.Ala1201Ser) | gnomAD v4 |
6 | g.33164932C>G | CA363617703 | COL11A2 | n.589G>C c.4783G>C (p.Ala1595Pro) c.4462G>C (p.Ala1488Pro) c.4525G>C (p.Ala1509Pro) n.573G>C c.3937G>C (p.Ala1313Pro) c.4069G>C (p.Ala1357Pro) c.3889G>C (p.Ala1297Pro) c.3826G>C (p.Ala1276Pro) c.3670G>C (p.Ala1224Pro) c.3601G>C (p.Ala1201Pro) | |
6 | g.33164932C>T | CA363617702 | COL11A2 | n.589G>A c.4783G>A (p.Ala1595Thr) c.4462G>A (p.Ala1488Thr) c.4525G>A (p.Ala1509Thr) n.573G>A c.3937G>A (p.Ala1313Thr) c.4069G>A (p.Ala1357Thr) c.3889G>A (p.Ala1297Thr) c.3826G>A (p.Ala1276Thr) c.3670G>A (p.Ala1224Thr) c.3601G>A (p.Ala1201Thr) | gnomAD v4 |
6 | g.33164933A>C | CA363617704 | COL11A2 | n.588T>G c.4782T>G (p.Cys1594Trp) c.4461T>G (p.Cys1487Trp) c.4524T>G (p.Cys1508Trp) n.572T>G c.3936T>G (p.Cys1312Trp) c.4068T>G (p.Cys1356Trp) c.3888T>G (p.Cys1296Trp) c.3825T>G (p.Cys1275Trp) c.3669T>G (p.Cys1223Trp) c.3600T>G (p.Cys1200Trp) | |
6 | g.33164933A>G | CA449867318 | COL11A2 | n.588T>C c.4782T>C (p.Cys1594=) c.4461T>C (p.Cys1487=) c.4524T>C (p.Cys1508=) n.572T>C c.3936T>C (p.Cys1312=) c.4068T>C (p.Cys1356=) c.3888T>C (p.Cys1296=) c.3825T>C (p.Cys1275=) c.3669T>C (p.Cys1223=) c.3600T>C (p.Cys1200=) | gnomAD v4 |
6 | g.33164933A>T | CA363617705 | COL11A2 | n.588T>A c.4782T>A (p.Cys1594Ter) c.4461T>A (p.Cys1487Ter) c.4524T>A (p.Cys1508Ter) n.572T>A c.3936T>A (p.Cys1312Ter) c.4068T>A (p.Cys1356Ter) c.3888T>A (p.Cys1296Ter) c.3825T>A (p.Cys1275Ter) c.3669T>A (p.Cys1223Ter) c.3600T>A (p.Cys1200Ter) | gnomAD v4 |
6 | g.33164934C>A | CA363617708 | COL11A2 | n.587G>T c.4781G>T (p.Cys1594Phe) c.4460G>T (p.Cys1487Phe) c.4523G>T (p.Cys1508Phe) n.571G>T c.3935G>T (p.Cys1312Phe) c.4067G>T (p.Cys1356Phe) c.3887G>T (p.Cys1296Phe) c.3824G>T (p.Cys1275Phe) c.3668G>T (p.Cys1223Phe) c.3599G>T (p.Cys1200Phe) | gnomAD v4 |
6 | g.33164934C= | CA1619890555 | COL11A2 | n.587G= c.4781G= (p.Cys1594=) c.4460G= (p.Cys1487=) c.4523G= (p.Cys1508=) n.571G= c.3935G= (p.Cys1312=) c.4067G= (p.Cys1356=) c.3887G= (p.Cys1296=) c.3824G= (p.Cys1275=) c.3668G= (p.Cys1223=) c.3599G= (p.Cys1200=) | |
6 | g.33164934C>G | CA363617709 | COL11A2 | n.587G>C c.4781G>C (p.Cys1594Ser) c.4460G>C (p.Cys1487Ser) c.4523G>C (p.Cys1508Ser) n.571G>C c.3935G>C (p.Cys1312Ser) c.4067G>C (p.Cys1356Ser) c.3887G>C (p.Cys1296Ser) c.3824G>C (p.Cys1275Ser) c.3668G>C (p.Cys1223Ser) c.3599G>C (p.Cys1200Ser) | |
6 | g.33164934C>T | CA363617712 | COL11A2 | n.587G>A c.4781G>A (p.Cys1594Tyr) c.4460G>A (p.Cys1487Tyr) c.4523G>A (p.Cys1508Tyr) n.571G>A c.3935G>A (p.Cys1312Tyr) c.4067G>A (p.Cys1356Tyr) c.3887G>A (p.Cys1296Tyr) c.3824G>A (p.Cys1275Tyr) c.3668G>A (p.Cys1223Tyr) c.3599G>A (p.Cys1200Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164935A= | CA1619890562 | COL11A2 | n.586T= c.4780T= (p.Cys1594=) c.4459T= (p.Cys1487=) c.4522T= (p.Cys1508=) n.570T= c.3934T= (p.Cys1312=) c.4066T= (p.Cys1356=) c.3886T= (p.Cys1296=) c.3823T= (p.Cys1275=) c.3667T= (p.Cys1223=) c.3598T= (p.Cys1200=) | |
6 | g.33164935A>C | CA363617716 | COL11A2 | n.586T>G c.4780T>G (p.Cys1594Gly) c.4459T>G (p.Cys1487Gly) c.4522T>G (p.Cys1508Gly) n.570T>G c.3934T>G (p.Cys1312Gly) c.4066T>G (p.Cys1356Gly) c.3886T>G (p.Cys1296Gly) c.3823T>G (p.Cys1275Gly) c.3667T>G (p.Cys1223Gly) c.3598T>G (p.Cys1200Gly) | gnomAD v4 |
6 | g.33164935A>G | CA363617718 | COL11A2 | n.586T>C c.4780T>C (p.Cys1594Arg) c.4459T>C (p.Cys1487Arg) c.4522T>C (p.Cys1508Arg) n.570T>C c.3934T>C (p.Cys1312Arg) c.4066T>C (p.Cys1356Arg) c.3886T>C (p.Cys1296Arg) c.3823T>C (p.Cys1275Arg) c.3667T>C (p.Cys1223Arg) c.3598T>C (p.Cys1200Arg) | gnomAD v4 |
6 | g.33164935A>T | CA363617720 | COL11A2 | n.586T>A c.4780T>A (p.Cys1594Ser) c.4459T>A (p.Cys1487Ser) c.4522T>A (p.Cys1508Ser) n.570T>A c.3934T>A (p.Cys1312Ser) c.4066T>A (p.Cys1356Ser) c.3886T>A (p.Cys1296Ser) c.3823T>A (p.Cys1275Ser) c.3667T>A (p.Cys1223Ser) c.3598T>A (p.Cys1200Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164936G>A | CA449867319 | COL11A2 | n.585C>T c.4779C>T (p.Gly1593=) c.4458C>T (p.Gly1486=) c.4521C>T (p.Gly1507=) n.569C>T c.3933C>T (p.Gly1311=) c.4065C>T (p.Gly1355=) c.3885C>T (p.Gly1295=) c.3822C>T (p.Gly1274=) c.3666C>T (p.Gly1222=) c.3597C>T (p.Gly1199=) | gnomAD v4 |
6 | g.33164936G>C | CA449867320 | COL11A2 | n.585C>G c.4779C>G (p.Gly1593=) c.4458C>G (p.Gly1486=) c.4521C>G (p.Gly1507=) n.569C>G c.3933C>G (p.Gly1311=) c.4065C>G (p.Gly1355=) c.3885C>G (p.Gly1295=) c.3822C>G (p.Gly1274=) c.3666C>G (p.Gly1222=) c.3597C>G (p.Gly1199=) | gnomAD v4 |
6 | g.33164936G>T | CA449867321 | COL11A2 | n.585C>A c.4779C>A (p.Gly1593=) c.4458C>A (p.Gly1486=) c.4521C>A (p.Gly1507=) n.569C>A c.3933C>A (p.Gly1311=) c.4065C>A (p.Gly1355=) c.3885C>A (p.Gly1295=) c.3822C>A (p.Gly1274=) c.3666C>A (p.Gly1222=) c.3597C>A (p.Gly1199=) | gnomAD v4 |
6 | g.33164937C>A | CA363617723 | COL11A2 | n.584G>T c.4778G>T (p.Gly1593Val) c.4457G>T (p.Gly1486Val) c.4520G>T (p.Gly1507Val) n.568G>T c.3932G>T (p.Gly1311Val) c.4064G>T (p.Gly1355Val) c.3884G>T (p.Gly1295Val) c.3821G>T (p.Gly1274Val) c.3665G>T (p.Gly1222Val) c.3596G>T (p.Gly1199Val) | gnomAD v4 |
6 | g.33164937C>G | CA363617726 | COL11A2 | n.584G>C c.4778G>C (p.Gly1593Ala) c.4457G>C (p.Gly1486Ala) c.4520G>C (p.Gly1507Ala) n.568G>C c.3932G>C (p.Gly1311Ala) c.4064G>C (p.Gly1355Ala) c.3884G>C (p.Gly1295Ala) c.3821G>C (p.Gly1274Ala) c.3665G>C (p.Gly1222Ala) c.3596G>C (p.Gly1199Ala) | |
6 | g.33164937C>T | CA363617727 | COL11A2 | n.584G>A c.4778G>A (p.Gly1593Asp) c.4457G>A (p.Gly1486Asp) c.4520G>A (p.Gly1507Asp) n.568G>A c.3932G>A (p.Gly1311Asp) c.4064G>A (p.Gly1355Asp) c.3884G>A (p.Gly1295Asp) c.3821G>A (p.Gly1274Asp) c.3665G>A (p.Gly1222Asp) c.3596G>A (p.Gly1199Asp) | gnomAD v4 |
6 | g.33164938C>A | CA363617731 | COL11A2 | n.583G>T c.4777G>T (p.Gly1593Cys) c.4456G>T (p.Gly1486Cys) c.4519G>T (p.Gly1507Cys) n.567G>T c.3931G>T (p.Gly1311Cys) c.4063G>T (p.Gly1355Cys) c.3883G>T (p.Gly1295Cys) c.3820G>T (p.Gly1274Cys) c.3664G>T (p.Gly1222Cys) c.3595G>T (p.Gly1199Cys) | gnomAD v4 |
6 | g.33164938C= | CA1619890567 | COL11A2 | n.583G= c.4777G= (p.Gly1593=) c.4456G= (p.Gly1486=) c.4519G= (p.Gly1507=) n.567G= c.3931G= (p.Gly1311=) c.4063G= (p.Gly1355=) c.3883G= (p.Gly1295=) c.3820G= (p.Gly1274=) c.3664G= (p.Gly1222=) c.3595G= (p.Gly1199=) | |
6 | g.33164938C>G | CA363617750 | COL11A2 | n.583G>C c.4777G>C (p.Gly1593Arg) c.4456G>C (p.Gly1486Arg) c.4519G>C (p.Gly1507Arg) n.567G>C c.3931G>C (p.Gly1311Arg) c.4063G>C (p.Gly1355Arg) c.3883G>C (p.Gly1295Arg) c.3820G>C (p.Gly1274Arg) c.3664G>C (p.Gly1222Arg) c.3595G>C (p.Gly1199Arg) | |
6 | g.33164938C>T | CA363617747 | COL11A2 | n.583G>A c.4777G>A (p.Gly1593Ser) c.4456G>A (p.Gly1486Ser) c.4519G>A (p.Gly1507Ser) n.567G>A c.3931G>A (p.Gly1311Ser) c.4063G>A (p.Gly1355Ser) c.3883G>A (p.Gly1295Ser) c.3820G>A (p.Gly1274Ser) c.3664G>A (p.Gly1222Ser) c.3595G>A (p.Gly1199Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164939C>A | CA363617753 | COL11A2 | n.582G>T c.4776G>T (p.Gln1592His) c.4455G>T (p.Gln1485His) c.4518G>T (p.Gln1506His) n.566G>T c.3930G>T (p.Gln1310His) c.4062G>T (p.Gln1354His) c.3882G>T (p.Gln1294His) c.3819G>T (p.Gln1273His) c.3663G>T (p.Gln1221His) c.3594G>T (p.Gln1198His) | gnomAD v4 |
6 | g.33164939C= | CA1619890574 | COL11A2 | n.582G= c.4776G= (p.Gln1592=) c.4455G= (p.Gln1485=) c.4518G= (p.Gln1506=) n.566G= c.3930G= (p.Gln1310=) c.4062G= (p.Gln1354=) c.3882G= (p.Gln1294=) c.3819G= (p.Gln1273=) c.3663G= (p.Gln1221=) c.3594G= (p.Gln1198=) | |
6 | g.33164939C>G | CA363617755 | COL11A2 | n.582G>C c.4776G>C (p.Gln1592His) c.4455G>C (p.Gln1485His) c.4518G>C (p.Gln1506His) n.566G>C c.3930G>C (p.Gln1310His) c.4062G>C (p.Gln1354His) c.3882G>C (p.Gln1294His) c.3819G>C (p.Gln1273His) c.3663G>C (p.Gln1221His) c.3594G>C (p.Gln1198His) | |
6 | g.33164939C>T | CA449867322 | COL11A2 | n.582G>A c.4776G>A (p.Gln1592=) c.4455G>A (p.Gln1485=) c.4518G>A (p.Gln1506=) n.566G>A c.3930G>A (p.Gln1310=) c.4062G>A (p.Gln1354=) c.3882G>A (p.Gln1294=) c.3819G>A (p.Gln1273=) c.3663G>A (p.Gln1221=) c.3594G>A (p.Gln1198=) | dbSNP gnomAD v2 |
6 | g.33164940T>A | CA363617758 | COL11A2 | n.581A>T c.4775A>T (p.Gln1592Leu) c.4454A>T (p.Gln1485Leu) c.4517A>T (p.Gln1506Leu) n.565A>T c.3929A>T (p.Gln1310Leu) c.4061A>T (p.Gln1354Leu) c.3881A>T (p.Gln1294Leu) c.3818A>T (p.Gln1273Leu) c.3662A>T (p.Gln1221Leu) c.3593A>T (p.Gln1198Leu) | gnomAD v4 COSMIC |
6 | g.33164940T>C | CA363617761 | COL11A2 | n.581A>G c.4775A>G (p.Gln1592Arg) c.4454A>G (p.Gln1485Arg) c.4517A>G (p.Gln1506Arg) n.565A>G c.3929A>G (p.Gln1310Arg) c.4061A>G (p.Gln1354Arg) c.3881A>G (p.Gln1294Arg) c.3818A>G (p.Gln1273Arg) c.3662A>G (p.Gln1221Arg) c.3593A>G (p.Gln1198Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164940T>G | CA363617763 | COL11A2 | n.581A>C c.4775A>C (p.Gln1592Pro) c.4454A>C (p.Gln1485Pro) c.4517A>C (p.Gln1506Pro) n.565A>C c.3929A>C (p.Gln1310Pro) c.4061A>C (p.Gln1354Pro) c.3881A>C (p.Gln1294Pro) c.3818A>C (p.Gln1273Pro) c.3662A>C (p.Gln1221Pro) c.3593A>C (p.Gln1198Pro) | |
6 | g.33164940T= | CA1619890578 | COL11A2 | n.581A= c.4775A= (p.Gln1592=) c.4454A= (p.Gln1485=) c.4517A= (p.Gln1506=) n.565A= c.3929A= (p.Gln1310=) c.4061A= (p.Gln1354=) c.3881A= (p.Gln1294=) c.3818A= (p.Gln1273=) c.3662A= (p.Gln1221=) c.3593A= (p.Gln1198=) | |
6 | g.33164941G>A | CA363617767 | COL11A2 | n.580C>T c.4774C>T (p.Gln1592Ter) c.4453C>T (p.Gln1485Ter) c.4516C>T (p.Gln1506Ter) n.564C>T c.3928C>T (p.Gln1310Ter) c.4060C>T (p.Gln1354Ter) c.3880C>T (p.Gln1294Ter) c.3817C>T (p.Gln1273Ter) c.3661C>T (p.Gln1221Ter) c.3592C>T (p.Gln1198Ter) | gnomAD v4 |
6 | g.33164941G>C | CA363617770 | COL11A2 | n.580C>G c.4774C>G (p.Gln1592Glu) c.4453C>G (p.Gln1485Glu) c.4516C>G (p.Gln1506Glu) n.564C>G c.3928C>G (p.Gln1310Glu) c.4060C>G (p.Gln1354Glu) c.3880C>G (p.Gln1294Glu) c.3817C>G (p.Gln1273Glu) c.3661C>G (p.Gln1221Glu) c.3592C>G (p.Gln1198Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164941G= | CA1619890582 | COL11A2 | n.580C= c.4774C= (p.Gln1592=) c.4453C= (p.Gln1485=) c.4516C= (p.Gln1506=) n.564C= c.3928C= (p.Gln1310=) c.4060C= (p.Gln1354=) c.3880C= (p.Gln1294=) c.3817C= (p.Gln1273=) c.3661C= (p.Gln1221=) c.3592C= (p.Gln1198=) | |
6 | g.33164941G>T | CA363617772 | COL11A2 | n.580C>A c.4774C>A (p.Gln1592Lys) c.4453C>A (p.Gln1485Lys) c.4516C>A (p.Gln1506Lys) n.564C>A c.3928C>A (p.Gln1310Lys) c.4060C>A (p.Gln1354Lys) c.3880C>A (p.Gln1294Lys) c.3817C>A (p.Gln1273Lys) c.3661C>A (p.Gln1221Lys) c.3592C>A (p.Gln1198Lys) | gnomAD v4 |