| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | 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 |