Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33164381G>A | CA449866989 | COL11A2 | n.762C>T c.4956C>T (p.Ser1652=) c.4635C>T (p.Ser1545=) c.4698C>T (p.Ser1566=) n.746C>T c.4110C>T (p.Ser1370=) c.4242C>T (p.Ser1414=) c.4062C>T (p.Ser1354=) c.3999C>T (p.Ser1333=) c.3843C>T (p.Ser1281=) c.3774C>T (p.Ser1258=) | |
6 | g.33164381G>C | CA449866990 | COL11A2 | n.762C>G c.4956C>G (p.Ser1652=) c.4635C>G (p.Ser1545=) c.4698C>G (p.Ser1566=) n.746C>G c.4110C>G (p.Ser1370=) c.4242C>G (p.Ser1414=) c.4062C>G (p.Ser1354=) c.3999C>G (p.Ser1333=) c.3843C>G (p.Ser1281=) c.3774C>G (p.Ser1258=) | |
6 | g.33164381G>T | CA449866991 | COL11A2 | n.762C>A c.4956C>A (p.Ser1652=) c.4635C>A (p.Ser1545=) c.4698C>A (p.Ser1566=) n.746C>A c.4110C>A (p.Ser1370=) c.4242C>A (p.Ser1414=) c.4062C>A (p.Ser1354=) c.3999C>A (p.Ser1333=) c.3843C>A (p.Ser1281=) c.3774C>A (p.Ser1258=) | |
6 | g.33164381_33164388del | CA2678226370 | COL11A2 | n.755_762del c.4949_4956del (p.Asp1650ValfsTer9) c.4628_4635del (p.Asp1543ValfsTer9) c.4691_4698del (p.Asp1564ValfsTer9) n.739_746del c.4103_4110del (p.Asp1368ValfsTer9) c.4235_4242del (p.Asp1412ValfsTer9) c.4055_4062del (p.Asp1352ValfsTer9) c.3992_3999del (p.Asp1331ValfsTer9) c.3836_3843del (p.Asp1279ValfsTer9) c.3767_3774del (p.Asp1256ValfsTer9) | gnomAD v4 |
6 | g.33164382G>A | CA137061419 | COL11A2 | n.761C>T c.4955C>T (p.Ser1652Phe) c.4634C>T (p.Ser1545Phe) c.4697C>T (p.Ser1566Phe) n.745C>T c.4109C>T (p.Ser1370Phe) c.4241C>T (p.Ser1414Phe) c.4061C>T (p.Ser1354Phe) c.3998C>T (p.Ser1333Phe) c.3842C>T (p.Ser1281Phe) c.3773C>T (p.Ser1258Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164382G>C | CA363616255 | COL11A2 | n.761C>G c.4955C>G (p.Ser1652Cys) c.4634C>G (p.Ser1545Cys) c.4697C>G (p.Ser1566Cys) n.745C>G c.4109C>G (p.Ser1370Cys) c.4241C>G (p.Ser1414Cys) c.4061C>G (p.Ser1354Cys) c.3998C>G (p.Ser1333Cys) c.3842C>G (p.Ser1281Cys) c.3773C>G (p.Ser1258Cys) | |
6 | g.33164382G= | CA1619889721 | COL11A2 | n.761C= c.4955C= (p.Ser1652=) c.4634C= (p.Ser1545=) c.4697C= (p.Ser1566=) n.745C= c.4109C= (p.Ser1370=) c.4241C= (p.Ser1414=) c.4061C= (p.Ser1354=) c.3998C= (p.Ser1333=) c.3842C= (p.Ser1281=) c.3773C= (p.Ser1258=) | |
6 | g.33164382G>T | CA363616256 | COL11A2 | n.761C>A c.4955C>A (p.Ser1652Tyr) c.4634C>A (p.Ser1545Tyr) c.4697C>A (p.Ser1566Tyr) n.745C>A c.4109C>A (p.Ser1370Tyr) c.4241C>A (p.Ser1414Tyr) c.4061C>A (p.Ser1354Tyr) c.3998C>A (p.Ser1333Tyr) c.3842C>A (p.Ser1281Tyr) c.3773C>A (p.Ser1258Tyr) | |
6 | g.33164383A>C | CA363616259 | COL11A2 | n.760T>G c.4954T>G (p.Ser1652Ala) c.4633T>G (p.Ser1545Ala) c.4696T>G (p.Ser1566Ala) n.744T>G c.4108T>G (p.Ser1370Ala) c.4240T>G (p.Ser1414Ala) c.4060T>G (p.Ser1354Ala) c.3997T>G (p.Ser1333Ala) c.3841T>G (p.Ser1281Ala) c.3772T>G (p.Ser1258Ala) | |
6 | g.33164383A>G | CA363616262 | COL11A2 | n.760T>C c.4954T>C (p.Ser1652Pro) c.4633T>C (p.Ser1545Pro) c.4696T>C (p.Ser1566Pro) n.744T>C c.4108T>C (p.Ser1370Pro) c.4240T>C (p.Ser1414Pro) c.4060T>C (p.Ser1354Pro) c.3997T>C (p.Ser1333Pro) c.3841T>C (p.Ser1281Pro) c.3772T>C (p.Ser1258Pro) | |
6 | g.33164383A>T | CA363616265 | COL11A2 | n.760T>A c.4954T>A (p.Ser1652Thr) c.4633T>A (p.Ser1545Thr) c.4696T>A (p.Ser1566Thr) n.744T>A c.4108T>A (p.Ser1370Thr) c.4240T>A (p.Ser1414Thr) c.4060T>A (p.Ser1354Thr) c.3997T>A (p.Ser1333Thr) c.3841T>A (p.Ser1281Thr) c.3772T>A (p.Ser1258Thr) | gnomAD v4 |
6 | g.33164383_33164386del | CA2678226371 | COL11A2 | n.757_760del c.4951_4954del (p.Val1651ProfsTer13) c.4630_4633del (p.Val1544ProfsTer13) c.4693_4696del (p.Val1565ProfsTer13) n.741_744del c.4105_4108del (p.Val1369ProfsTer13) c.4237_4240del (p.Val1413ProfsTer13) c.4057_4060del (p.Val1353ProfsTer13) c.3994_3997del (p.Val1332ProfsTer13) c.3838_3841del (p.Val1280ProfsTer13) c.3769_3772del (p.Val1257ProfsTer13) | gnomAD v4 |
6 | g.33164384G>A | CA449866995 | COL11A2 | n.759C>T c.4953C>T (p.Val1651=) c.4632C>T (p.Val1544=) c.4695C>T (p.Val1565=) n.743C>T c.4107C>T (p.Val1369=) c.4239C>T (p.Val1413=) c.4059C>T (p.Val1353=) c.3996C>T (p.Val1332=) c.3840C>T (p.Val1280=) c.3771C>T (p.Val1257=) | |
6 | g.33164384G>C | CA449866996 | COL11A2 | n.759C>G c.4953C>G (p.Val1651=) c.4632C>G (p.Val1544=) c.4695C>G (p.Val1565=) n.743C>G c.4107C>G (p.Val1369=) c.4239C>G (p.Val1413=) c.4059C>G (p.Val1353=) c.3996C>G (p.Val1332=) c.3840C>G (p.Val1280=) c.3771C>G (p.Val1257=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164384G= | CA1619889725 | COL11A2 | n.759C= c.4953C= (p.Val1651=) c.4632C= (p.Val1544=) c.4695C= (p.Val1565=) n.743C= c.4107C= (p.Val1369=) c.4239C= (p.Val1413=) c.4059C= (p.Val1353=) c.3996C= (p.Val1332=) c.3840C= (p.Val1280=) c.3771C= (p.Val1257=) | |
6 | g.33164384G>T | CA449866997 | COL11A2 | n.759C>A c.4953C>A (p.Val1651=) c.4632C>A (p.Val1544=) c.4695C>A (p.Val1565=) n.743C>A c.4107C>A (p.Val1369=) c.4239C>A (p.Val1413=) c.4059C>A (p.Val1353=) c.3996C>A (p.Val1332=) c.3840C>A (p.Val1280=) c.3771C>A (p.Val1257=) | |
6 | g.33164385A= | CA1619889733 | COL11A2 | n.758T= c.4952T= (p.Val1651=) c.4631T= (p.Val1544=) c.4694T= (p.Val1565=) n.742T= c.4106T= (p.Val1369=) c.4238T= (p.Val1413=) c.4058T= (p.Val1353=) c.3995T= (p.Val1332=) c.3839T= (p.Val1280=) c.3770T= (p.Val1257=) | |
6 | g.33164385A>C | CA363616274 | COL11A2 | n.758T>G c.4952T>G (p.Val1651Gly) c.4631T>G (p.Val1544Gly) c.4694T>G (p.Val1565Gly) n.742T>G c.4106T>G (p.Val1369Gly) c.4238T>G (p.Val1413Gly) c.4058T>G (p.Val1353Gly) c.3995T>G (p.Val1332Gly) c.3839T>G (p.Val1280Gly) c.3770T>G (p.Val1257Gly) | |
6 | g.33164385A>G | CA363616275 | COL11A2 | n.758T>C c.4952T>C (p.Val1651Ala) c.4631T>C (p.Val1544Ala) c.4694T>C (p.Val1565Ala) n.742T>C c.4106T>C (p.Val1369Ala) c.4238T>C (p.Val1413Ala) c.4058T>C (p.Val1353Ala) c.3995T>C (p.Val1332Ala) c.3839T>C (p.Val1280Ala) c.3770T>C (p.Val1257Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164385A>T | CA363616278 | COL11A2 | n.758T>A c.4952T>A (p.Val1651Asp) c.4631T>A (p.Val1544Asp) c.4694T>A (p.Val1565Asp) n.742T>A c.4106T>A (p.Val1369Asp) c.4238T>A (p.Val1413Asp) c.4058T>A (p.Val1353Asp) c.3995T>A (p.Val1332Asp) c.3839T>A (p.Val1280Asp) c.3770T>A (p.Val1257Asp) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164386C>A | CA363616281 | COL11A2 | n.757G>T c.4951G>T (p.Val1651Phe) c.4630G>T (p.Val1544Phe) c.4693G>T (p.Val1565Phe) n.741G>T c.4105G>T (p.Val1369Phe) c.4237G>T (p.Val1413Phe) c.4057G>T (p.Val1353Phe) c.3994G>T (p.Val1332Phe) c.3838G>T (p.Val1280Phe) c.3769G>T (p.Val1257Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.33164386C= | CA1619889739 | COL11A2 | n.757G= c.4951G= (p.Val1651=) c.4630G= (p.Val1544=) c.4693G= (p.Val1565=) n.741G= c.4105G= (p.Val1369=) c.4237G= (p.Val1413=) c.4057G= (p.Val1353=) c.3994G= (p.Val1332=) c.3838G= (p.Val1280=) c.3769G= (p.Val1257=) | |
6 | g.33164386C>G | CA363616283 | COL11A2 | n.757G>C c.4951G>C (p.Val1651Leu) c.4630G>C (p.Val1544Leu) c.4693G>C (p.Val1565Leu) n.741G>C c.4105G>C (p.Val1369Leu) c.4237G>C (p.Val1413Leu) c.4057G>C (p.Val1353Leu) c.3994G>C (p.Val1332Leu) c.3838G>C (p.Val1280Leu) c.3769G>C (p.Val1257Leu) | |
6 | g.33164386C>T | CA3749945 | COL11A2 | n.757G>A c.4951G>A (p.Val1651Ile) c.4630G>A (p.Val1544Ile) c.4693G>A (p.Val1565Ile) n.741G>A c.4105G>A (p.Val1369Ile) c.4237G>A (p.Val1413Ile) c.4057G>A (p.Val1353Ile) c.3994G>A (p.Val1332Ile) c.3838G>A (p.Val1280Ile) c.3769G>A (p.Val1257Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164387G>A | CA3749946 | COL11A2 | n.756C>T c.4950C>T (p.Asp1650=) c.4629C>T (p.Asp1543=) c.4692C>T (p.Asp1564=) n.740C>T c.4104C>T (p.Asp1368=) c.4236C>T (p.Asp1412=) c.4056C>T (p.Asp1352=) c.3993C>T (p.Asp1331=) c.3837C>T (p.Asp1279=) c.3768C>T (p.Asp1256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164387G>C | CA363616293 | COL11A2 | n.756C>G c.4950C>G (p.Asp1650Glu) c.4629C>G (p.Asp1543Glu) c.4692C>G (p.Asp1564Glu) n.740C>G c.4104C>G (p.Asp1368Glu) c.4236C>G (p.Asp1412Glu) c.4056C>G (p.Asp1352Glu) c.3993C>G (p.Asp1331Glu) c.3837C>G (p.Asp1279Glu) c.3768C>G (p.Asp1256Glu) | gnomAD v4 |
6 | g.33164387G= | CA1619889746 | COL11A2 | n.756C= c.4950C= (p.Asp1650=) c.4629C= (p.Asp1543=) c.4692C= (p.Asp1564=) n.740C= c.4104C= (p.Asp1368=) c.4236C= (p.Asp1412=) c.4056C= (p.Asp1352=) c.3993C= (p.Asp1331=) c.3837C= (p.Asp1279=) c.3768C= (p.Asp1256=) | |
6 | g.33164387G>T | CA363616291 | COL11A2 | n.756C>A c.4950C>A (p.Asp1650Glu) c.4629C>A (p.Asp1543Glu) c.4692C>A (p.Asp1564Glu) n.740C>A c.4104C>A (p.Asp1368Glu) c.4236C>A (p.Asp1412Glu) c.4056C>A (p.Asp1352Glu) c.3993C>A (p.Asp1331Glu) c.3837C>A (p.Asp1279Glu) c.3768C>A (p.Asp1256Glu) | |
6 | g.33164388T>A | CA363616296 | COL11A2 | n.755A>T c.4949A>T (p.Asp1650Val) c.4628A>T (p.Asp1543Val) c.4691A>T (p.Asp1564Val) n.739A>T c.4103A>T (p.Asp1368Val) c.4235A>T (p.Asp1412Val) c.4055A>T (p.Asp1352Val) c.3992A>T (p.Asp1331Val) c.3836A>T (p.Asp1279Val) c.3767A>T (p.Asp1256Val) | |
6 | g.33164388T>C | CA363616298 | COL11A2 | n.755A>G c.4949A>G (p.Asp1650Gly) c.4628A>G (p.Asp1543Gly) c.4691A>G (p.Asp1564Gly) n.739A>G c.4103A>G (p.Asp1368Gly) c.4235A>G (p.Asp1412Gly) c.4055A>G (p.Asp1352Gly) c.3992A>G (p.Asp1331Gly) c.3836A>G (p.Asp1279Gly) c.3767A>G (p.Asp1256Gly) | gnomAD v4 |
6 | g.33164388T>G | CA363616302 | COL11A2 | n.755A>C c.4949A>C (p.Asp1650Ala) c.4628A>C (p.Asp1543Ala) c.4691A>C (p.Asp1564Ala) n.739A>C c.4103A>C (p.Asp1368Ala) c.4235A>C (p.Asp1412Ala) c.4055A>C (p.Asp1352Ala) c.3992A>C (p.Asp1331Ala) c.3836A>C (p.Asp1279Ala) c.3767A>C (p.Asp1256Ala) | |
6 | g.33164389C>A | CA363616304 | COL11A2 | n.754G>T c.4948G>T (p.Asp1650Tyr) c.4627G>T (p.Asp1543Tyr) c.4690G>T (p.Asp1564Tyr) n.738G>T c.4102G>T (p.Asp1368Tyr) c.4234G>T (p.Asp1412Tyr) c.4054G>T (p.Asp1352Tyr) c.3991G>T (p.Asp1331Tyr) c.3835G>T (p.Asp1279Tyr) c.3766G>T (p.Asp1256Tyr) | |
6 | g.33164389C>G | CA363616305 | COL11A2 | n.754G>C c.4948G>C (p.Asp1650His) c.4627G>C (p.Asp1543His) c.4690G>C (p.Asp1564His) n.738G>C c.4102G>C (p.Asp1368His) c.4234G>C (p.Asp1412His) c.4054G>C (p.Asp1352His) c.3991G>C (p.Asp1331His) c.3835G>C (p.Asp1279His) c.3766G>C (p.Asp1256His) | |
6 | g.33164389C>T | CA363616308 | COL11A2 | n.754G>A c.4948G>A (p.Asp1650Asn) c.4627G>A (p.Asp1543Asn) c.4690G>A (p.Asp1564Asn) n.738G>A c.4102G>A (p.Asp1368Asn) c.4234G>A (p.Asp1412Asn) c.4054G>A (p.Asp1352Asn) c.3991G>A (p.Asp1331Asn) c.3835G>A (p.Asp1279Asn) c.3766G>A (p.Asp1256Asn) | gnomAD v4 |
6 | g.33164390C>A | CA363616311 | COL11A2 | n.753G>T c.4947G>T (p.Gln1649His) c.4626G>T (p.Gln1542His) c.4689G>T (p.Gln1563His) n.737G>T c.4101G>T (p.Gln1367His) c.4233G>T (p.Gln1411His) c.4053G>T (p.Gln1351His) c.3990G>T (p.Gln1330His) c.3834G>T (p.Gln1278His) c.3765G>T (p.Gln1255His) | gnomAD v4 |
6 | g.33164390C>G | CA363616310 | COL11A2 | n.753G>C c.4947G>C (p.Gln1649His) c.4626G>C (p.Gln1542His) c.4689G>C (p.Gln1563His) n.737G>C c.4101G>C (p.Gln1367His) c.4233G>C (p.Gln1411His) c.4053G>C (p.Gln1351His) c.3990G>C (p.Gln1330His) c.3834G>C (p.Gln1278His) c.3765G>C (p.Gln1255His) | |
6 | g.33164390C>T | CA449867005 | COL11A2 | n.753G>A c.4947G>A (p.Gln1649=) c.4626G>A (p.Gln1542=) c.4689G>A (p.Gln1563=) n.737G>A c.4101G>A (p.Gln1367=) c.4233G>A (p.Gln1411=) c.4053G>A (p.Gln1351=) c.3990G>A (p.Gln1330=) c.3834G>A (p.Gln1278=) c.3765G>A (p.Gln1255=) | |
6 | g.33164391T>A | CA363616312 | COL11A2 | n.752A>T c.4946A>T (p.Gln1649Leu) c.4625A>T (p.Gln1542Leu) c.4688A>T (p.Gln1563Leu) n.736A>T c.4100A>T (p.Gln1367Leu) c.4232A>T (p.Gln1411Leu) c.4052A>T (p.Gln1351Leu) c.3989A>T (p.Gln1330Leu) c.3833A>T (p.Gln1278Leu) c.3764A>T (p.Gln1255Leu) | |
6 | g.33164391T>C | CA363616313 | COL11A2 | n.752A>G c.4946A>G (p.Gln1649Arg) c.4625A>G (p.Gln1542Arg) c.4688A>G (p.Gln1563Arg) n.736A>G c.4100A>G (p.Gln1367Arg) c.4232A>G (p.Gln1411Arg) c.4052A>G (p.Gln1351Arg) c.3989A>G (p.Gln1330Arg) c.3833A>G (p.Gln1278Arg) c.3764A>G (p.Gln1255Arg) | |
6 | g.33164391T>G | CA363616315 | COL11A2 | n.752A>C c.4946A>C (p.Gln1649Pro) c.4625A>C (p.Gln1542Pro) c.4688A>C (p.Gln1563Pro) n.736A>C c.4100A>C (p.Gln1367Pro) c.4232A>C (p.Gln1411Pro) c.4052A>C (p.Gln1351Pro) c.3989A>C (p.Gln1330Pro) c.3833A>C (p.Gln1278Pro) c.3764A>C (p.Gln1255Pro) | |
6 | g.33164392G>A | CA363616317 | COL11A2 | n.751C>T c.4945C>T (p.Gln1649Ter) c.4624C>T (p.Gln1542Ter) c.4687C>T (p.Gln1563Ter) n.735C>T c.4099C>T (p.Gln1367Ter) c.4231C>T (p.Gln1411Ter) c.4051C>T (p.Gln1351Ter) c.3988C>T (p.Gln1330Ter) c.3832C>T (p.Gln1278Ter) c.3763C>T (p.Gln1255Ter) | gnomAD v4 |
6 | g.33164392G>C | CA363616319 | COL11A2 | n.751C>G c.4945C>G (p.Gln1649Glu) c.4624C>G (p.Gln1542Glu) c.4687C>G (p.Gln1563Glu) n.735C>G c.4099C>G (p.Gln1367Glu) c.4231C>G (p.Gln1411Glu) c.4051C>G (p.Gln1351Glu) c.3988C>G (p.Gln1330Glu) c.3832C>G (p.Gln1278Glu) c.3763C>G (p.Gln1255Glu) | |
6 | g.33164392G>T | CA363616320 | COL11A2 | n.751C>A c.4945C>A (p.Gln1649Lys) c.4624C>A (p.Gln1542Lys) c.4687C>A (p.Gln1563Lys) n.735C>A c.4099C>A (p.Gln1367Lys) c.4231C>A (p.Gln1411Lys) c.4051C>A (p.Gln1351Lys) c.3988C>A (p.Gln1330Lys) c.3832C>A (p.Gln1278Lys) c.3763C>A (p.Gln1255Lys) | |
6 | g.33164393G>A | CA3749947 | COL11A2 | n.750C>T c.4944C>T (p.His1648=) c.4623C>T (p.His1541=) c.4686C>T (p.His1562=) n.734C>T c.4098C>T (p.His1366=) c.4230C>T (p.His1410=) c.4050C>T (p.His1350=) c.3987C>T (p.His1329=) c.3831C>T (p.His1277=) c.3762C>T (p.His1254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.33164393G>C | CA363616327 | COL11A2 | n.750C>G c.4944C>G (p.His1648Gln) c.4623C>G (p.His1541Gln) c.4686C>G (p.His1562Gln) n.734C>G c.4098C>G (p.His1366Gln) c.4230C>G (p.His1410Gln) c.4050C>G (p.His1350Gln) c.3987C>G (p.His1329Gln) c.3831C>G (p.His1277Gln) c.3762C>G (p.His1254Gln) | |
6 | g.33164393G= | CA1619889755 | COL11A2 | n.750C= c.4944C= (p.His1648=) c.4623C= (p.His1541=) c.4686C= (p.His1562=) n.734C= c.4098C= (p.His1366=) c.4230C= (p.His1410=) c.4050C= (p.His1350=) c.3987C= (p.His1329=) c.3831C= (p.His1277=) c.3762C= (p.His1254=) | |
6 | g.33164393G>T | CA363616326 | COL11A2 | n.750C>A c.4944C>A (p.His1648Gln) c.4623C>A (p.His1541Gln) c.4686C>A (p.His1562Gln) n.734C>A c.4098C>A (p.His1366Gln) c.4230C>A (p.His1410Gln) c.4050C>A (p.His1350Gln) c.3987C>A (p.His1329Gln) c.3831C>A (p.His1277Gln) c.3762C>A (p.His1254Gln) | |
6 | g.33164394T>A | CA363616329 | COL11A2 | n.749A>T c.4943A>T (p.His1648Leu) c.4622A>T (p.His1541Leu) c.4685A>T (p.His1562Leu) n.733A>T c.4097A>T (p.His1366Leu) c.4229A>T (p.His1410Leu) c.4049A>T (p.His1350Leu) c.3986A>T (p.His1329Leu) c.3830A>T (p.His1277Leu) c.3761A>T (p.His1254Leu) | ClinVar dbSNP |
6 | g.33164394T>C | CA363616331 | COL11A2 | n.749A>G c.4943A>G (p.His1648Arg) c.4622A>G (p.His1541Arg) c.4685A>G (p.His1562Arg) n.733A>G c.4097A>G (p.His1366Arg) c.4229A>G (p.His1410Arg) c.4049A>G (p.His1350Arg) c.3986A>G (p.His1329Arg) c.3830A>G (p.His1277Arg) c.3761A>G (p.His1254Arg) | |
6 | g.33164394T>G | CA363616333 | COL11A2 | n.749A>C c.4943A>C (p.His1648Pro) c.4622A>C (p.His1541Pro) c.4685A>C (p.His1562Pro) n.733A>C c.4097A>C (p.His1366Pro) c.4229A>C (p.His1410Pro) c.4049A>C (p.His1350Pro) c.3986A>C (p.His1329Pro) c.3830A>C (p.His1277Pro) c.3761A>C (p.His1254Pro) | gnomAD v4 |
6 | g.33164394T= | CA1619889764 | COL11A2 | n.749A= c.4943A= (p.His1648=) c.4622A= (p.His1541=) c.4685A= (p.His1562=) n.733A= c.4097A= (p.His1366=) c.4229A= (p.His1410=) c.4049A= (p.His1350=) c.3986A= (p.His1329=) c.3830A= (p.His1277=) c.3761A= (p.His1254=) | |
6 | g.33164395G>A | CA363616335 | COL11A2 | n.748C>T c.4942C>T (p.His1648Tyr) c.4621C>T (p.His1541Tyr) c.4684C>T (p.His1562Tyr) n.732C>T c.4096C>T (p.His1366Tyr) c.4228C>T (p.His1410Tyr) c.4048C>T (p.His1350Tyr) c.3985C>T (p.His1329Tyr) c.3829C>T (p.His1277Tyr) c.3760C>T (p.His1254Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164395G>C | CA363616336 | COL11A2 | n.748C>G c.4942C>G (p.His1648Asp) c.4621C>G (p.His1541Asp) c.4684C>G (p.His1562Asp) n.732C>G c.4096C>G (p.His1366Asp) c.4228C>G (p.His1410Asp) c.4048C>G (p.His1350Asp) c.3985C>G (p.His1329Asp) c.3829C>G (p.His1277Asp) c.3760C>G (p.His1254Asp) | |
6 | g.33164395G= | CA1619889768 | COL11A2 | n.748C= c.4942C= (p.His1648=) c.4621C= (p.His1541=) c.4684C= (p.His1562=) n.732C= c.4096C= (p.His1366=) c.4228C= (p.His1410=) c.4048C= (p.His1350=) c.3985C= (p.His1329=) c.3829C= (p.His1277=) c.3760C= (p.His1254=) | |
6 | g.33164395G>T | CA363616338 | COL11A2 | n.748C>A c.4942C>A (p.His1648Asn) c.4621C>A (p.His1541Asn) c.4684C>A (p.His1562Asn) n.732C>A c.4096C>A (p.His1366Asn) c.4228C>A (p.His1410Asn) c.4048C>A (p.His1350Asn) c.3985C>A (p.His1329Asn) c.3829C>A (p.His1277Asn) c.3760C>A (p.His1254Asn) | |
6 | g.33164397del | CA2678226372 | COL11A2 | n.748del c.4942del (p.His1648ThrfsTer17) c.4621del (p.His1541ThrfsTer17) c.4684del (p.His1562ThrfsTer17) n.732del c.4096del (p.His1366ThrfsTer17) c.4228del (p.His1410ThrfsTer17) c.4048del (p.His1350ThrfsTer17) c.3985del (p.His1329ThrfsTer17) c.3829del (p.His1277ThrfsTer17) c.3760del (p.His1254ThrfsTer17) | gnomAD v4 |
6 | g.33164396G>A | CA449867013 | COL11A2 | n.747C>T c.4941C>T (p.Ala1647=) c.4620C>T (p.Ala1540=) c.4683C>T (p.Ala1561=) n.731C>T c.4095C>T (p.Ala1365=) c.4227C>T (p.Ala1409=) c.4047C>T (p.Ala1349=) c.3984C>T (p.Ala1328=) c.3828C>T (p.Ala1276=) c.3759C>T (p.Ala1253=) | |
6 | g.33164396G>C | CA449867014 | COL11A2 | n.747C>G c.4941C>G (p.Ala1647=) c.4620C>G (p.Ala1540=) c.4683C>G (p.Ala1561=) n.731C>G c.4095C>G (p.Ala1365=) c.4227C>G (p.Ala1409=) c.4047C>G (p.Ala1349=) c.3984C>G (p.Ala1328=) c.3828C>G (p.Ala1276=) c.3759C>G (p.Ala1253=) | |
6 | g.33164396G>T | CA449867015 | COL11A2 | n.747C>A c.4941C>A (p.Ala1647=) c.4620C>A (p.Ala1540=) c.4683C>A (p.Ala1561=) n.731C>A c.4095C>A (p.Ala1365=) c.4227C>A (p.Ala1409=) c.4047C>A (p.Ala1349=) c.3984C>A (p.Ala1328=) c.3828C>A (p.Ala1276=) c.3759C>A (p.Ala1253=) | |
6 | g.33164397G>A | CA363616339 | COL11A2 | n.746C>T c.4940C>T (p.Ala1647Val) c.4619C>T (p.Ala1540Val) c.4682C>T (p.Ala1561Val) n.730C>T c.4094C>T (p.Ala1365Val) c.4226C>T (p.Ala1409Val) c.4046C>T (p.Ala1349Val) c.3983C>T (p.Ala1328Val) c.3827C>T (p.Ala1276Val) c.3758C>T (p.Ala1253Val) | gnomAD v4 |
6 | g.33164397G>C | CA363616340 | COL11A2 | n.746C>G c.4940C>G (p.Ala1647Gly) c.4619C>G (p.Ala1540Gly) c.4682C>G (p.Ala1561Gly) n.730C>G c.4094C>G (p.Ala1365Gly) c.4226C>G (p.Ala1409Gly) c.4046C>G (p.Ala1349Gly) c.3983C>G (p.Ala1328Gly) c.3827C>G (p.Ala1276Gly) c.3758C>G (p.Ala1253Gly) | |
6 | g.33164397G>T | CA363616342 | COL11A2 | n.746C>A c.4940C>A (p.Ala1647Asp) c.4619C>A (p.Ala1540Asp) c.4682C>A (p.Ala1561Asp) n.730C>A c.4094C>A (p.Ala1365Asp) c.4226C>A (p.Ala1409Asp) c.4046C>A (p.Ala1349Asp) c.3983C>A (p.Ala1328Asp) c.3827C>A (p.Ala1276Asp) c.3758C>A (p.Ala1253Asp) | |
6 | g.33164398C>A | CA363616343 | COL11A2 | n.745G>T c.4939G>T (p.Ala1647Ser) c.4618G>T (p.Ala1540Ser) c.4681G>T (p.Ala1561Ser) n.729G>T c.4093G>T (p.Ala1365Ser) c.4225G>T (p.Ala1409Ser) c.4045G>T (p.Ala1349Ser) c.3982G>T (p.Ala1328Ser) c.3826G>T (p.Ala1276Ser) c.3757G>T (p.Ala1253Ser) | |
6 | g.33164398C= | CA1619889773 | COL11A2 | n.745G= c.4939G= (p.Ala1647=) c.4618G= (p.Ala1540=) c.4681G= (p.Ala1561=) n.729G= c.4093G= (p.Ala1365=) c.4225G= (p.Ala1409=) c.4045G= (p.Ala1349=) c.3982G= (p.Ala1328=) c.3826G= (p.Ala1276=) c.3757G= (p.Ala1253=) | |
6 | g.33164398C>G | CA363616344 | COL11A2 | n.745G>C c.4939G>C (p.Ala1647Pro) c.4618G>C (p.Ala1540Pro) c.4681G>C (p.Ala1561Pro) n.729G>C c.4093G>C (p.Ala1365Pro) c.4225G>C (p.Ala1409Pro) c.4045G>C (p.Ala1349Pro) c.3982G>C (p.Ala1328Pro) c.3826G>C (p.Ala1276Pro) c.3757G>C (p.Ala1253Pro) | |
6 | g.33164398C>T | CA3749948 | COL11A2 | n.745G>A c.4939G>A (p.Ala1647Thr) c.4618G>A (p.Ala1540Thr) c.4681G>A (p.Ala1561Thr) n.729G>A c.4093G>A (p.Ala1365Thr) c.4225G>A (p.Ala1409Thr) c.4045G>A (p.Ala1349Thr) c.3982G>A (p.Ala1328Thr) c.3826G>A (p.Ala1276Thr) c.3757G>A (p.Ala1253Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164399T>A | CA449867017 | COL11A2 | n.744A>T c.4938A>T (p.Ser1646=) c.4617A>T (p.Ser1539=) c.4680A>T (p.Ser1560=) n.728A>T c.4092A>T (p.Ser1364=) c.4224A>T (p.Ser1408=) c.4044A>T (p.Ser1348=) c.3981A>T (p.Ser1327=) c.3825A>T (p.Ser1275=) c.3756A>T (p.Ser1252=) | |
6 | g.33164399T>C | CA449867018 | COL11A2 | n.744A>G c.4938A>G (p.Ser1646=) c.4617A>G (p.Ser1539=) c.4680A>G (p.Ser1560=) n.728A>G c.4092A>G (p.Ser1364=) c.4224A>G (p.Ser1408=) c.4044A>G (p.Ser1348=) c.3981A>G (p.Ser1327=) c.3825A>G (p.Ser1275=) c.3756A>G (p.Ser1252=) | |
6 | g.33164399T>G | CA449867019 | COL11A2 | n.744A>C c.4938A>C (p.Ser1646=) c.4617A>C (p.Ser1539=) c.4680A>C (p.Ser1560=) n.728A>C c.4092A>C (p.Ser1364=) c.4224A>C (p.Ser1408=) c.4044A>C (p.Ser1348=) c.3981A>C (p.Ser1327=) c.3825A>C (p.Ser1275=) c.3756A>C (p.Ser1252=) | |
6 | g.33164400G>A | CA363616346 | COL11A2 | n.743C>T c.4937C>T (p.Ser1646Leu) c.4616C>T (p.Ser1539Leu) c.4679C>T (p.Ser1560Leu) n.727C>T c.4091C>T (p.Ser1364Leu) c.4223C>T (p.Ser1408Leu) c.4043C>T (p.Ser1348Leu) c.3980C>T (p.Ser1327Leu) c.3824C>T (p.Ser1275Leu) c.3755C>T (p.Ser1252Leu) | |
6 | g.33164400G>C | CA363616348 | COL11A2 | n.743C>G c.4937C>G (p.Ser1646Ter) c.4616C>G (p.Ser1539Ter) c.4679C>G (p.Ser1560Ter) n.727C>G c.4091C>G (p.Ser1364Ter) c.4223C>G (p.Ser1408Ter) c.4043C>G (p.Ser1348Ter) c.3980C>G (p.Ser1327Ter) c.3824C>G (p.Ser1275Ter) c.3755C>G (p.Ser1252Ter) | |
6 | g.33164400G>T | CA363616345 | COL11A2 | n.743C>A c.4937C>A (p.Ser1646Ter) c.4616C>A (p.Ser1539Ter) c.4679C>A (p.Ser1560Ter) n.727C>A c.4091C>A (p.Ser1364Ter) c.4223C>A (p.Ser1408Ter) c.4043C>A (p.Ser1348Ter) c.3980C>A (p.Ser1327Ter) c.3824C>A (p.Ser1275Ter) c.3755C>A (p.Ser1252Ter) | |
6 | g.33164401A>C | CA363616350 | COL11A2 | n.742T>G c.4936T>G (p.Ser1646Ala) c.4615T>G (p.Ser1539Ala) c.4678T>G (p.Ser1560Ala) n.726T>G c.4090T>G (p.Ser1364Ala) c.4222T>G (p.Ser1408Ala) c.4042T>G (p.Ser1348Ala) c.3979T>G (p.Ser1327Ala) c.3823T>G (p.Ser1275Ala) c.3754T>G (p.Ser1252Ala) | |
6 | g.33164401A>G | CA363616353 | COL11A2 | n.742T>C c.4936T>C (p.Ser1646Pro) c.4615T>C (p.Ser1539Pro) c.4678T>C (p.Ser1560Pro) n.726T>C c.4090T>C (p.Ser1364Pro) c.4222T>C (p.Ser1408Pro) c.4042T>C (p.Ser1348Pro) c.3979T>C (p.Ser1327Pro) c.3823T>C (p.Ser1275Pro) c.3754T>C (p.Ser1252Pro) | |
6 | g.33164401A>T | CA363616352 | COL11A2 | n.742T>A c.4936T>A (p.Ser1646Thr) c.4615T>A (p.Ser1539Thr) c.4678T>A (p.Ser1560Thr) n.726T>A c.4090T>A (p.Ser1364Thr) c.4222T>A (p.Ser1408Thr) c.4042T>A (p.Ser1348Thr) c.3979T>A (p.Ser1327Thr) c.3823T>A (p.Ser1275Thr) c.3754T>A (p.Ser1252Thr) | |
6 | g.33164402G>A | CA449867021 | COL11A2 | n.741C>T c.4935C>T (p.Val1645=) c.4614C>T (p.Val1538=) c.4677C>T (p.Val1559=) n.725C>T c.4089C>T (p.Val1363=) c.4221C>T (p.Val1407=) c.4041C>T (p.Val1347=) c.3978C>T (p.Val1326=) c.3822C>T (p.Val1274=) c.3753C>T (p.Val1251=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164402G>C | CA449867022 | COL11A2 | n.741C>G c.4935C>G (p.Val1645=) c.4614C>G (p.Val1538=) c.4677C>G (p.Val1559=) n.725C>G c.4089C>G (p.Val1363=) c.4221C>G (p.Val1407=) c.4041C>G (p.Val1347=) c.3978C>G (p.Val1326=) c.3822C>G (p.Val1274=) c.3753C>G (p.Val1251=) | |
6 | g.33164402G= | CA1619889775 | COL11A2 | n.741C= c.4935C= (p.Val1645=) c.4614C= (p.Val1538=) c.4677C= (p.Val1559=) n.725C= c.4089C= (p.Val1363=) c.4221C= (p.Val1407=) c.4041C= (p.Val1347=) c.3978C= (p.Val1326=) c.3822C= (p.Val1274=) c.3753C= (p.Val1251=) | |
6 | g.33164402G>T | CA449867020 | COL11A2 | n.741C>A c.4935C>A (p.Val1645=) c.4614C>A (p.Val1538=) c.4677C>A (p.Val1559=) n.725C>A c.4089C>A (p.Val1363=) c.4221C>A (p.Val1407=) c.4041C>A (p.Val1347=) c.3978C>A (p.Val1326=) c.3822C>A (p.Val1274=) c.3753C>A (p.Val1251=) | gnomAD v4 |
6 | g.33164403A= | CA1619889779 | COL11A2 | n.740T= c.4934T= (p.Val1645=) c.4613T= (p.Val1538=) c.4676T= (p.Val1559=) n.724T= c.4088T= (p.Val1363=) c.4220T= (p.Val1407=) c.4040T= (p.Val1347=) c.3977T= (p.Val1326=) c.3821T= (p.Val1274=) c.3752T= (p.Val1251=) | |
6 | g.33164403A>C | CA363616355 | COL11A2 | n.740T>G c.4934T>G (p.Val1645Gly) c.4613T>G (p.Val1538Gly) c.4676T>G (p.Val1559Gly) n.724T>G c.4088T>G (p.Val1363Gly) c.4220T>G (p.Val1407Gly) c.4040T>G (p.Val1347Gly) c.3977T>G (p.Val1326Gly) c.3821T>G (p.Val1274Gly) c.3752T>G (p.Val1251Gly) | |
6 | g.33164403A>G | CA363616360 | COL11A2 | n.740T>C c.4934T>C (p.Val1645Ala) c.4613T>C (p.Val1538Ala) c.4676T>C (p.Val1559Ala) n.724T>C c.4088T>C (p.Val1363Ala) c.4220T>C (p.Val1407Ala) c.4040T>C (p.Val1347Ala) c.3977T>C (p.Val1326Ala) c.3821T>C (p.Val1274Ala) c.3752T>C (p.Val1251Ala) | ClinVar dbSNP gnomAD v4 |
6 | g.33164403A>T | CA363616356 | COL11A2 | n.740T>A c.4934T>A (p.Val1645Asp) c.4613T>A (p.Val1538Asp) c.4676T>A (p.Val1559Asp) n.724T>A c.4088T>A (p.Val1363Asp) c.4220T>A (p.Val1407Asp) c.4040T>A (p.Val1347Asp) c.3977T>A (p.Val1326Asp) c.3821T>A (p.Val1274Asp) c.3752T>A (p.Val1251Asp) | |
6 | g.33164404C>A | CA3749950 | COL11A2 | n.739G>T c.4933G>T (p.Val1645Phe) c.4612G>T (p.Val1538Phe) c.4675G>T (p.Val1559Phe) n.723G>T c.4087G>T (p.Val1363Phe) c.4219G>T (p.Val1407Phe) c.4039G>T (p.Val1347Phe) c.3976G>T (p.Val1326Phe) c.3820G>T (p.Val1274Phe) c.3751G>T (p.Val1251Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164404C= | CA1619889782 | COL11A2 | n.739G= c.4933G= (p.Val1645=) c.4612G= (p.Val1538=) c.4675G= (p.Val1559=) n.723G= c.4087G= (p.Val1363=) c.4219G= (p.Val1407=) c.4039G= (p.Val1347=) c.3976G= (p.Val1326=) c.3820G= (p.Val1274=) c.3751G= (p.Val1251=) | |
6 | g.33164404C>G | CA363616362 | COL11A2 | n.739G>C c.4933G>C (p.Val1645Leu) c.4612G>C (p.Val1538Leu) c.4675G>C (p.Val1559Leu) n.723G>C c.4087G>C (p.Val1363Leu) c.4219G>C (p.Val1407Leu) c.4039G>C (p.Val1347Leu) c.3976G>C (p.Val1326Leu) c.3820G>C (p.Val1274Leu) c.3751G>C (p.Val1251Leu) | |
6 | g.33164404C>T | CA3749949 | COL11A2 | n.739G>A c.4933G>A (p.Val1645Ile) c.4612G>A (p.Val1538Ile) c.4675G>A (p.Val1559Ile) n.723G>A c.4087G>A (p.Val1363Ile) c.4219G>A (p.Val1407Ile) c.4039G>A (p.Val1347Ile) c.3976G>A (p.Val1326Ile) c.3820G>A (p.Val1274Ile) c.3751G>A (p.Val1251Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.33164405G>A | CA3749951 | COL11A2 | n.738C>T c.4932C>T (p.Ser1644=) c.4611C>T (p.Ser1537=) c.4674C>T (p.Ser1558=) n.722C>T c.4086C>T (p.Ser1362=) c.4218C>T (p.Ser1406=) c.4038C>T (p.Ser1346=) c.3975C>T (p.Ser1325=) c.3819C>T (p.Ser1273=) c.3750C>T (p.Ser1250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164405G>C | CA363616367 | COL11A2 | n.738C>G c.4932C>G (p.Ser1644Arg) c.4611C>G (p.Ser1537Arg) c.4674C>G (p.Ser1558Arg) n.722C>G c.4086C>G (p.Ser1362Arg) c.4218C>G (p.Ser1406Arg) c.4038C>G (p.Ser1346Arg) c.3975C>G (p.Ser1325Arg) c.3819C>G (p.Ser1273Arg) c.3750C>G (p.Ser1250Arg) | |
6 | g.33164405G= | CA1619889788 | COL11A2 | n.738C= c.4932C= (p.Ser1644=) c.4611C= (p.Ser1537=) c.4674C= (p.Ser1558=) n.722C= c.4086C= (p.Ser1362=) c.4218C= (p.Ser1406=) c.4038C= (p.Ser1346=) c.3975C= (p.Ser1325=) c.3819C= (p.Ser1273=) c.3750C= (p.Ser1250=) | |
6 | g.33164405G>T | CA363616365 | COL11A2 | n.738C>A c.4932C>A (p.Ser1644Arg) c.4611C>A (p.Ser1537Arg) c.4674C>A (p.Ser1558Arg) n.722C>A c.4086C>A (p.Ser1362Arg) c.4218C>A (p.Ser1406Arg) c.4038C>A (p.Ser1346Arg) c.3975C>A (p.Ser1325Arg) c.3819C>A (p.Ser1273Arg) c.3750C>A (p.Ser1250Arg) | gnomAD v4 |
6 | g.33164406C>A | CA363616368 | COL11A2 | n.737G>T c.4931G>T (p.Ser1644Ile) c.4610G>T (p.Ser1537Ile) c.4673G>T (p.Ser1558Ile) n.721G>T c.4085G>T (p.Ser1362Ile) c.4217G>T (p.Ser1406Ile) c.4037G>T (p.Ser1346Ile) c.3974G>T (p.Ser1325Ile) c.3818G>T (p.Ser1273Ile) c.3749G>T (p.Ser1250Ile) | |
6 | g.33164406C>G | CA363616369 | COL11A2 | n.737G>C c.4931G>C (p.Ser1644Thr) c.4610G>C (p.Ser1537Thr) c.4673G>C (p.Ser1558Thr) n.721G>C c.4085G>C (p.Ser1362Thr) c.4217G>C (p.Ser1406Thr) c.4037G>C (p.Ser1346Thr) c.3974G>C (p.Ser1325Thr) c.3818G>C (p.Ser1273Thr) c.3749G>C (p.Ser1250Thr) | |
6 | g.33164406C>T | CA363616370 | COL11A2 | n.737G>A c.4931G>A (p.Ser1644Asn) c.4610G>A (p.Ser1537Asn) c.4673G>A (p.Ser1558Asn) n.721G>A c.4085G>A (p.Ser1362Asn) c.4217G>A (p.Ser1406Asn) c.4037G>A (p.Ser1346Asn) c.3974G>A (p.Ser1325Asn) c.3818G>A (p.Ser1273Asn) c.3749G>A (p.Ser1250Asn) | gnomAD v4 |
6 | g.33164407T>A | CA363616372 | COL11A2 | n.736A>T c.4930A>T (p.Ser1644Cys) c.4609A>T (p.Ser1537Cys) c.4672A>T (p.Ser1558Cys) n.720A>T c.4084A>T (p.Ser1362Cys) c.4216A>T (p.Ser1406Cys) c.4036A>T (p.Ser1346Cys) c.3973A>T (p.Ser1325Cys) c.3817A>T (p.Ser1273Cys) c.3748A>T (p.Ser1250Cys) | |
6 | g.33164407T>C | CA363616373 | COL11A2 | n.736A>G c.4930A>G (p.Ser1644Gly) c.4609A>G (p.Ser1537Gly) c.4672A>G (p.Ser1558Gly) n.720A>G c.4084A>G (p.Ser1362Gly) c.4216A>G (p.Ser1406Gly) c.4036A>G (p.Ser1346Gly) c.3973A>G (p.Ser1325Gly) c.3817A>G (p.Ser1273Gly) c.3748A>G (p.Ser1250Gly) | dbSNP |
6 | g.33164407T>G | CA363616375 | COL11A2 | n.736A>C c.4930A>C (p.Ser1644Arg) c.4609A>C (p.Ser1537Arg) c.4672A>C (p.Ser1558Arg) n.720A>C c.4084A>C (p.Ser1362Arg) c.4216A>C (p.Ser1406Arg) c.4036A>C (p.Ser1346Arg) c.3973A>C (p.Ser1325Arg) c.3817A>C (p.Ser1273Arg) c.3748A>C (p.Ser1250Arg) | |
6 | g.33164407T= | CA1619889792 | COL11A2 | n.736A= c.4930A= (p.Ser1644=) c.4609A= (p.Ser1537=) c.4672A= (p.Ser1558=) n.720A= c.4084A= (p.Ser1362=) c.4216A= (p.Ser1406=) c.4036A= (p.Ser1346=) c.3973A= (p.Ser1325=) c.3817A= (p.Ser1273=) c.3748A= (p.Ser1250=) | |
6 | g.33164408G>A | CA3749953 | COL11A2 | n.735C>T c.4929C>T (p.Leu1643=) c.4608C>T (p.Leu1536=) c.4671C>T (p.Leu1557=) n.719C>T c.4083C>T (p.Leu1361=) c.4215C>T (p.Leu1405=) c.4035C>T (p.Leu1345=) c.3972C>T (p.Leu1324=) c.3816C>T (p.Leu1272=) c.3747C>T (p.Leu1249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164408G>C | CA449867030 | COL11A2 | n.735C>G c.4929C>G (p.Leu1643=) c.4608C>G (p.Leu1536=) c.4671C>G (p.Leu1557=) n.719C>G c.4083C>G (p.Leu1361=) c.4215C>G (p.Leu1405=) c.4035C>G (p.Leu1345=) c.3972C>G (p.Leu1324=) c.3816C>G (p.Leu1272=) c.3747C>G (p.Leu1249=) | ClinVar dbSNP gnomAD v4 |
6 | g.33164408G= | CA1619889793 | COL11A2 | n.735C= c.4929C= (p.Leu1643=) c.4608C= (p.Leu1536=) c.4671C= (p.Leu1557=) n.719C= c.4083C= (p.Leu1361=) c.4215C= (p.Leu1405=) c.4035C= (p.Leu1345=) c.3972C= (p.Leu1324=) c.3816C= (p.Leu1272=) c.3747C= (p.Leu1249=) | |
6 | g.33164408G>T | CA449867031 | COL11A2 | n.735C>A c.4929C>A (p.Leu1643=) c.4608C>A (p.Leu1536=) c.4671C>A (p.Leu1557=) n.719C>A c.4083C>A (p.Leu1361=) c.4215C>A (p.Leu1405=) c.4035C>A (p.Leu1345=) c.3972C>A (p.Leu1324=) c.3816C>A (p.Leu1272=) c.3747C>A (p.Leu1249=) | gnomAD v4 |
6 | g.33164408dup | CA3749952 | COL11A2 | n.735dup c.4929dup (p.Ser1644GlnfsTer18) c.4608dup (p.Ser1537GlnfsTer18) c.4671dup (p.Ser1558GlnfsTer18) n.719dup c.4083dup (p.Ser1362GlnfsTer18) c.4215dup (p.Ser1406GlnfsTer18) c.4035dup (p.Ser1346GlnfsTer18) c.3972dup (p.Ser1325GlnfsTer18) c.3816dup (p.Ser1273GlnfsTer18) c.3747dup (p.Ser1250GlnfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164409A>C | CA363616377 | COL11A2 | n.734T>G c.4928T>G (p.Leu1643Arg) c.4607T>G (p.Leu1536Arg) c.4670T>G (p.Leu1557Arg) n.718T>G c.4082T>G (p.Leu1361Arg) c.4214T>G (p.Leu1405Arg) c.4034T>G (p.Leu1345Arg) c.3971T>G (p.Leu1324Arg) c.3815T>G (p.Leu1272Arg) c.3746T>G (p.Leu1249Arg) | |
6 | g.33164409A>G | CA363616378 | COL11A2 | n.734T>C c.4928T>C (p.Leu1643Pro) c.4607T>C (p.Leu1536Pro) c.4670T>C (p.Leu1557Pro) n.718T>C c.4082T>C (p.Leu1361Pro) c.4214T>C (p.Leu1405Pro) c.4034T>C (p.Leu1345Pro) c.3971T>C (p.Leu1324Pro) c.3815T>C (p.Leu1272Pro) c.3746T>C (p.Leu1249Pro) | |
6 | g.33164409A>T | CA363616379 | COL11A2 | n.734T>A c.4928T>A (p.Leu1643His) c.4607T>A (p.Leu1536His) c.4670T>A (p.Leu1557His) n.718T>A c.4082T>A (p.Leu1361His) c.4214T>A (p.Leu1405His) c.4034T>A (p.Leu1345His) c.3971T>A (p.Leu1324His) c.3815T>A (p.Leu1272His) c.3746T>A (p.Leu1249His) | |
6 | g.33164410G>A | CA363616386 | COL11A2 | n.733C>T c.4927C>T (p.Leu1643Phe) c.4606C>T (p.Leu1536Phe) c.4669C>T (p.Leu1557Phe) n.717C>T c.4081C>T (p.Leu1361Phe) c.4213C>T (p.Leu1405Phe) c.4033C>T (p.Leu1345Phe) c.3970C>T (p.Leu1324Phe) c.3814C>T (p.Leu1272Phe) c.3745C>T (p.Leu1249Phe) | gnomAD v4 |
6 | g.33164410G>C | CA363616381 | COL11A2 | n.733C>G c.4927C>G (p.Leu1643Val) c.4606C>G (p.Leu1536Val) c.4669C>G (p.Leu1557Val) n.717C>G c.4081C>G (p.Leu1361Val) c.4213C>G (p.Leu1405Val) c.4033C>G (p.Leu1345Val) c.3970C>G (p.Leu1324Val) c.3814C>G (p.Leu1272Val) c.3745C>G (p.Leu1249Val) | |
6 | g.33164410G>T | CA363616383 | COL11A2 | n.733C>A c.4927C>A (p.Leu1643Ile) c.4606C>A (p.Leu1536Ile) c.4669C>A (p.Leu1557Ile) n.717C>A c.4081C>A (p.Leu1361Ile) c.4213C>A (p.Leu1405Ile) c.4033C>A (p.Leu1345Ile) c.3970C>A (p.Leu1324Ile) c.3814C>A (p.Leu1272Ile) c.3745C>A (p.Leu1249Ile) | |
6 | g.33164411C>A | CA137061453 | COL11A2 | n.732G>T c.4926G>T (p.Leu1642=) c.4605G>T (p.Leu1535=) c.4668G>T (p.Leu1556=) n.716G>T c.4080G>T (p.Leu1360=) c.4212G>T (p.Leu1404=) c.4032G>T (p.Leu1344=) c.3969G>T (p.Leu1323=) c.3813G>T (p.Leu1271=) c.3744G>T (p.Leu1248=) | dbSNP gnomAD v4 |
6 | g.33164411C= | CA1619889795 | COL11A2 | n.732G= c.4926G= (p.Leu1642=) c.4605G= (p.Leu1535=) c.4668G= (p.Leu1556=) n.716G= c.4080G= (p.Leu1360=) c.4212G= (p.Leu1404=) c.4032G= (p.Leu1344=) c.3969G= (p.Leu1323=) c.3813G= (p.Leu1271=) c.3744G= (p.Leu1248=) | |
6 | g.33164411C>G | CA449867033 | COL11A2 | n.732G>C c.4926G>C (p.Leu1642=) c.4605G>C (p.Leu1535=) c.4668G>C (p.Leu1556=) n.716G>C c.4080G>C (p.Leu1360=) c.4212G>C (p.Leu1404=) c.4032G>C (p.Leu1344=) c.3969G>C (p.Leu1323=) c.3813G>C (p.Leu1271=) c.3744G>C (p.Leu1248=) | |
6 | g.33164411C>T | CA449867034 | COL11A2 | n.732G>A c.4926G>A (p.Leu1642=) c.4605G>A (p.Leu1535=) c.4668G>A (p.Leu1556=) n.716G>A c.4080G>A (p.Leu1360=) c.4212G>A (p.Leu1404=) c.4032G>A (p.Leu1344=) c.3969G>A (p.Leu1323=) c.3813G>A (p.Leu1271=) c.3744G>A (p.Leu1248=) | |
6 | g.33164412A>C | CA363616388 | COL11A2 | n.731T>G c.4925T>G (p.Leu1642Arg) c.4604T>G (p.Leu1535Arg) c.4667T>G (p.Leu1556Arg) n.715T>G c.4079T>G (p.Leu1360Arg) c.4211T>G (p.Leu1404Arg) c.4031T>G (p.Leu1344Arg) c.3968T>G (p.Leu1323Arg) c.3812T>G (p.Leu1271Arg) c.3743T>G (p.Leu1248Arg) | |
6 | g.33164412A>G | CA363616390 | COL11A2 | n.731T>C c.4925T>C (p.Leu1642Pro) c.4604T>C (p.Leu1535Pro) c.4667T>C (p.Leu1556Pro) n.715T>C c.4079T>C (p.Leu1360Pro) c.4211T>C (p.Leu1404Pro) c.4031T>C (p.Leu1344Pro) c.3968T>C (p.Leu1323Pro) c.3812T>C (p.Leu1271Pro) c.3743T>C (p.Leu1248Pro) | |
6 | g.33164412A>T | CA363616393 | COL11A2 | n.731T>A c.4925T>A (p.Leu1642Gln) c.4604T>A (p.Leu1535Gln) c.4667T>A (p.Leu1556Gln) n.715T>A c.4079T>A (p.Leu1360Gln) c.4211T>A (p.Leu1404Gln) c.4031T>A (p.Leu1344Gln) c.3968T>A (p.Leu1323Gln) c.3812T>A (p.Leu1271Gln) c.3743T>A (p.Leu1248Gln) | |
6 | g.33164413G>A | CA449867035 | COL11A2 | n.730C>T c.4924C>T (p.Leu1642=) c.4603C>T (p.Leu1535=) c.4666C>T (p.Leu1556=) n.714C>T c.4078C>T (p.Leu1360=) c.4210C>T (p.Leu1404=) c.4030C>T (p.Leu1344=) c.3967C>T (p.Leu1323=) c.3811C>T (p.Leu1271=) c.3742C>T (p.Leu1248=) | ClinVar |
6 | g.33164413G>C | CA3749954 | COL11A2 | n.730C>G c.4924C>G (p.Leu1642Val) c.4603C>G (p.Leu1535Val) c.4666C>G (p.Leu1556Val) n.714C>G c.4078C>G (p.Leu1360Val) c.4210C>G (p.Leu1404Val) c.4030C>G (p.Leu1344Val) c.3967C>G (p.Leu1323Val) c.3811C>G (p.Leu1271Val) c.3742C>G (p.Leu1248Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164413G= | CA1619889799 | COL11A2 | n.730C= c.4924C= (p.Leu1642=) c.4603C= (p.Leu1535=) c.4666C= (p.Leu1556=) n.714C= c.4078C= (p.Leu1360=) c.4210C= (p.Leu1404=) c.4030C= (p.Leu1344=) c.3967C= (p.Leu1323=) c.3811C= (p.Leu1271=) c.3742C= (p.Leu1248=) | |
6 | g.33164413G>T | CA363616397 | COL11A2 | n.730C>A c.4924C>A (p.Leu1642Met) c.4603C>A (p.Leu1535Met) c.4666C>A (p.Leu1556Met) n.714C>A c.4078C>A (p.Leu1360Met) c.4210C>A (p.Leu1404Met) c.4030C>A (p.Leu1344Met) c.3967C>A (p.Leu1323Met) c.3811C>A (p.Leu1271Met) c.3742C>A (p.Leu1248Met) | |
6 | g.33164414C>A | CA449867036 | COL11A2 | n.729G>T c.4923G>T (p.Arg1641=) c.4602G>T (p.Arg1534=) c.4665G>T (p.Arg1555=) n.713G>T c.4077G>T (p.Arg1359=) c.4209G>T (p.Arg1403=) c.4029G>T (p.Arg1343=) c.3966G>T (p.Arg1322=) c.3810G>T (p.Arg1270=) c.3741G>T (p.Arg1247=) | |
6 | g.33164414C= | CA1619889802 | COL11A2 | n.729G= c.4923G= (p.Arg1641=) c.4602G= (p.Arg1534=) c.4665G= (p.Arg1555=) n.713G= c.4077G= (p.Arg1359=) c.4209G= (p.Arg1403=) c.4029G= (p.Arg1343=) c.3966G= (p.Arg1322=) c.3810G= (p.Arg1270=) c.3741G= (p.Arg1247=) | |
6 | g.33164414C>G | CA449867038 | COL11A2 | n.729G>C c.4923G>C (p.Arg1641=) c.4602G>C (p.Arg1534=) c.4665G>C (p.Arg1555=) n.713G>C c.4077G>C (p.Arg1359=) c.4209G>C (p.Arg1403=) c.4029G>C (p.Arg1343=) c.3966G>C (p.Arg1322=) c.3810G>C (p.Arg1270=) c.3741G>C (p.Arg1247=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164414C>T | CA449867037 | COL11A2 | n.729G>A c.4923G>A (p.Arg1641=) c.4602G>A (p.Arg1534=) c.4665G>A (p.Arg1555=) n.713G>A c.4077G>A (p.Arg1359=) c.4209G>A (p.Arg1403=) c.4029G>A (p.Arg1343=) c.3966G>A (p.Arg1322=) c.3810G>A (p.Arg1270=) c.3741G>A (p.Arg1247=) | ClinVar |
6 | g.33164415C>A | CA363616400 | COL11A2 | n.728G>T c.4922G>T (p.Arg1641Leu) c.4601G>T (p.Arg1534Leu) c.4664G>T (p.Arg1555Leu) n.712G>T c.4076G>T (p.Arg1359Leu) c.4208G>T (p.Arg1403Leu) c.4028G>T (p.Arg1343Leu) c.3965G>T (p.Arg1322Leu) c.3809G>T (p.Arg1270Leu) c.3740G>T (p.Arg1247Leu) | |
6 | g.33164415C= | CA1619889805 | COL11A2 | n.728G= c.4922G= (p.Arg1641=) c.4601G= (p.Arg1534=) c.4664G= (p.Arg1555=) n.712G= c.4076G= (p.Arg1359=) c.4208G= (p.Arg1403=) c.4028G= (p.Arg1343=) c.3965G= (p.Arg1322=) c.3809G= (p.Arg1270=) c.3740G= (p.Arg1247=) | |
6 | g.33164415C>G | CA363616403 | COL11A2 | n.728G>C c.4922G>C (p.Arg1641Pro) c.4601G>C (p.Arg1534Pro) c.4664G>C (p.Arg1555Pro) n.712G>C c.4076G>C (p.Arg1359Pro) c.4208G>C (p.Arg1403Pro) c.4028G>C (p.Arg1343Pro) c.3965G>C (p.Arg1322Pro) c.3809G>C (p.Arg1270Pro) c.3740G>C (p.Arg1247Pro) | |
6 | g.33164415C>T | CA3749955 | COL11A2 | n.728G>A c.4922G>A (p.Arg1641Gln) c.4601G>A (p.Arg1534Gln) c.4664G>A (p.Arg1555Gln) n.712G>A c.4076G>A (p.Arg1359Gln) c.4208G>A (p.Arg1403Gln) c.4028G>A (p.Arg1343Gln) c.3965G>A (p.Arg1322Gln) c.3809G>A (p.Arg1270Gln) c.3740G>A (p.Arg1247Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164416G>A | CA363616412 | COL11A2 | n.727C>T c.4921C>T (p.Arg1641Trp) c.4600C>T (p.Arg1534Trp) c.4663C>T (p.Arg1555Trp) n.711C>T c.4075C>T (p.Arg1359Trp) c.4207C>T (p.Arg1403Trp) c.4027C>T (p.Arg1343Trp) c.3964C>T (p.Arg1322Trp) c.3808C>T (p.Arg1270Trp) c.3739C>T (p.Arg1247Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.33164416G>C | CA363616414 | COL11A2 | n.727C>G c.4921C>G (p.Arg1641Gly) c.4600C>G (p.Arg1534Gly) c.4663C>G (p.Arg1555Gly) n.711C>G c.4075C>G (p.Arg1359Gly) c.4207C>G (p.Arg1403Gly) c.4027C>G (p.Arg1343Gly) c.3964C>G (p.Arg1322Gly) c.3808C>G (p.Arg1270Gly) c.3739C>G (p.Arg1247Gly) | |
6 | g.33164416G>T | CA449867039 | COL11A2 | n.727C>A c.4921C>A (p.Arg1641=) c.4600C>A (p.Arg1534=) c.4663C>A (p.Arg1555=) n.711C>A c.4075C>A (p.Arg1359=) c.4207C>A (p.Arg1403=) c.4027C>A (p.Arg1343=) c.3964C>A (p.Arg1322=) c.3808C>A (p.Arg1270=) c.3739C>A (p.Arg1247=) | gnomAD v4 |
6 | g.33164417C>A | CA449867040 | COL11A2 | n.726G>T c.4920G>T (p.Leu1640=) c.4599G>T (p.Leu1533=) c.4662G>T (p.Leu1554=) n.710G>T c.4074G>T (p.Leu1358=) c.4206G>T (p.Leu1402=) c.4026G>T (p.Leu1342=) c.3963G>T (p.Leu1321=) c.3807G>T (p.Leu1269=) c.3738G>T (p.Leu1246=) | gnomAD v4 |
6 | g.33164417C>G | CA449867041 | COL11A2 | n.726G>C c.4920G>C (p.Leu1640=) c.4599G>C (p.Leu1533=) c.4662G>C (p.Leu1554=) n.710G>C c.4074G>C (p.Leu1358=) c.4206G>C (p.Leu1402=) c.4026G>C (p.Leu1342=) c.3963G>C (p.Leu1321=) c.3807G>C (p.Leu1269=) c.3738G>C (p.Leu1246=) | |
6 | g.33164417C>T | CA449867042 | COL11A2 | n.726G>A c.4920G>A (p.Leu1640=) c.4599G>A (p.Leu1533=) c.4662G>A (p.Leu1554=) n.710G>A c.4074G>A (p.Leu1358=) c.4206G>A (p.Leu1402=) c.4026G>A (p.Leu1342=) c.3963G>A (p.Leu1321=) c.3807G>A (p.Leu1269=) c.3738G>A (p.Leu1246=) | |
6 | g.33164418A>C | CA363616421 | COL11A2 | n.725T>G c.4919T>G (p.Leu1640Arg) c.4598T>G (p.Leu1533Arg) c.4661T>G (p.Leu1554Arg) n.709T>G c.4073T>G (p.Leu1358Arg) c.4205T>G (p.Leu1402Arg) c.4025T>G (p.Leu1342Arg) c.3962T>G (p.Leu1321Arg) c.3806T>G (p.Leu1269Arg) c.3737T>G (p.Leu1246Arg) | |
6 | g.33164418A>G | CA363616419 | COL11A2 | n.725T>C c.4919T>C (p.Leu1640Pro) c.4598T>C (p.Leu1533Pro) c.4661T>C (p.Leu1554Pro) n.709T>C c.4073T>C (p.Leu1358Pro) c.4205T>C (p.Leu1402Pro) c.4025T>C (p.Leu1342Pro) c.3962T>C (p.Leu1321Pro) c.3806T>C (p.Leu1269Pro) c.3737T>C (p.Leu1246Pro) | |
6 | g.33164418A>T | CA363616417 | COL11A2 | n.725T>A c.4919T>A (p.Leu1640Gln) c.4598T>A (p.Leu1533Gln) c.4661T>A (p.Leu1554Gln) n.709T>A c.4073T>A (p.Leu1358Gln) c.4205T>A (p.Leu1402Gln) c.4025T>A (p.Leu1342Gln) c.3962T>A (p.Leu1321Gln) c.3806T>A (p.Leu1269Gln) c.3737T>A (p.Leu1246Gln) | |
6 | g.33164419G>A | CA3749956 | COL11A2 | n.724C>T c.4918C>T (p.Leu1640=) c.4597C>T (p.Leu1533=) c.4660C>T (p.Leu1554=) n.708C>T c.4072C>T (p.Leu1358=) c.4204C>T (p.Leu1402=) c.4024C>T (p.Leu1342=) c.3961C>T (p.Leu1321=) c.3805C>T (p.Leu1269=) c.3736C>T (p.Leu1246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164419G>C | CA363616425 | COL11A2 | n.724C>G c.4918C>G (p.Leu1640Val) c.4597C>G (p.Leu1533Val) c.4660C>G (p.Leu1554Val) n.708C>G c.4072C>G (p.Leu1358Val) c.4204C>G (p.Leu1402Val) c.4024C>G (p.Leu1342Val) c.3961C>G (p.Leu1321Val) c.3805C>G (p.Leu1269Val) c.3736C>G (p.Leu1246Val) | |
6 | g.33164419G= | CA1619889807 | COL11A2 | n.724C= c.4918C= (p.Leu1640=) c.4597C= (p.Leu1533=) c.4660C= (p.Leu1554=) n.708C= c.4072C= (p.Leu1358=) c.4204C= (p.Leu1402=) c.4024C= (p.Leu1342=) c.3961C= (p.Leu1321=) c.3805C= (p.Leu1269=) c.3736C= (p.Leu1246=) | |
6 | g.33164419G>T | CA363616428 | COL11A2 | n.724C>A c.4918C>A (p.Leu1640Met) c.4597C>A (p.Leu1533Met) c.4660C>A (p.Leu1554Met) n.708C>A c.4072C>A (p.Leu1358Met) c.4204C>A (p.Leu1402Met) c.4024C>A (p.Leu1342Met) c.3961C>A (p.Leu1321Met) c.3805C>A (p.Leu1269Met) c.3736C>A (p.Leu1246Met) | |
6 | g.33164420G>A | CA3749957 | COL11A2 | n.723C>T c.4917C>T (p.Phe1639=) c.4596C>T (p.Phe1532=) c.4659C>T (p.Phe1553=) n.707C>T c.4071C>T (p.Phe1357=) c.4203C>T (p.Phe1401=) c.4023C>T (p.Phe1341=) c.3960C>T (p.Phe1320=) c.3804C>T (p.Phe1268=) c.3735C>T (p.Phe1245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164420G>C | CA363616432 | COL11A2 | n.723C>G c.4917C>G (p.Phe1639Leu) c.4596C>G (p.Phe1532Leu) c.4659C>G (p.Phe1553Leu) n.707C>G c.4071C>G (p.Phe1357Leu) c.4203C>G (p.Phe1401Leu) c.4023C>G (p.Phe1341Leu) c.3960C>G (p.Phe1320Leu) c.3804C>G (p.Phe1268Leu) c.3735C>G (p.Phe1245Leu) | |
6 | g.33164420G= | CA1619889812 | COL11A2 | n.723C= c.4917C= (p.Phe1639=) c.4596C= (p.Phe1532=) c.4659C= (p.Phe1553=) n.707C= c.4071C= (p.Phe1357=) c.4203C= (p.Phe1401=) c.4023C= (p.Phe1341=) c.3960C= (p.Phe1320=) c.3804C= (p.Phe1268=) c.3735C= (p.Phe1245=) | |
6 | g.33164420G>T | CA363616433 | COL11A2 | n.723C>A c.4917C>A (p.Phe1639Leu) c.4596C>A (p.Phe1532Leu) c.4659C>A (p.Phe1553Leu) n.707C>A c.4071C>A (p.Phe1357Leu) c.4203C>A (p.Phe1401Leu) c.4023C>A (p.Phe1341Leu) c.3960C>A (p.Phe1320Leu) c.3804C>A (p.Phe1268Leu) c.3735C>A (p.Phe1245Leu) | |
6 | g.33164421A>C | CA363616436 | COL11A2 | n.722T>G c.4916T>G (p.Phe1639Cys) c.4595T>G (p.Phe1532Cys) c.4658T>G (p.Phe1553Cys) n.706T>G c.4070T>G (p.Phe1357Cys) c.4202T>G (p.Phe1401Cys) c.4022T>G (p.Phe1341Cys) c.3959T>G (p.Phe1320Cys) c.3803T>G (p.Phe1268Cys) c.3734T>G (p.Phe1245Cys) | |
6 | g.33164421A>G | CA363616439 | COL11A2 | n.722T>C c.4916T>C (p.Phe1639Ser) c.4595T>C (p.Phe1532Ser) c.4658T>C (p.Phe1553Ser) n.706T>C c.4070T>C (p.Phe1357Ser) c.4202T>C (p.Phe1401Ser) c.4022T>C (p.Phe1341Ser) c.3959T>C (p.Phe1320Ser) c.3803T>C (p.Phe1268Ser) c.3734T>C (p.Phe1245Ser) | |
6 | g.33164421A>T | CA363616442 | COL11A2 | n.722T>A c.4916T>A (p.Phe1639Tyr) c.4595T>A (p.Phe1532Tyr) c.4658T>A (p.Phe1553Tyr) n.706T>A c.4070T>A (p.Phe1357Tyr) c.4202T>A (p.Phe1401Tyr) c.4022T>A (p.Phe1341Tyr) c.3959T>A (p.Phe1320Tyr) c.3803T>A (p.Phe1268Tyr) c.3734T>A (p.Phe1245Tyr) | |
6 | g.33164422A>C | CA363616443 | COL11A2 | n.721T>G c.4915T>G (p.Phe1639Val) c.4594T>G (p.Phe1532Val) c.4657T>G (p.Phe1553Val) n.705T>G c.4069T>G (p.Phe1357Val) c.4201T>G (p.Phe1401Val) c.4021T>G (p.Phe1341Val) c.3958T>G (p.Phe1320Val) c.3802T>G (p.Phe1268Val) c.3733T>G (p.Phe1245Val) | |
6 | g.33164422A>G | CA363616445 | COL11A2 | n.721T>C c.4915T>C (p.Phe1639Leu) c.4594T>C (p.Phe1532Leu) c.4657T>C (p.Phe1553Leu) n.705T>C c.4069T>C (p.Phe1357Leu) c.4201T>C (p.Phe1401Leu) c.4021T>C (p.Phe1341Leu) c.3958T>C (p.Phe1320Leu) c.3802T>C (p.Phe1268Leu) c.3733T>C (p.Phe1245Leu) | |
6 | g.33164422A>T | CA363616446 | COL11A2 | n.721T>A c.4915T>A (p.Phe1639Ile) c.4594T>A (p.Phe1532Ile) c.4657T>A (p.Phe1553Ile) n.705T>A c.4069T>A (p.Phe1357Ile) c.4201T>A (p.Phe1401Ile) c.4021T>A (p.Phe1341Ile) c.3958T>A (p.Phe1320Ile) c.3802T>A (p.Phe1268Ile) c.3733T>A (p.Phe1245Ile) | |
6 | g.33164423G>A | CA137061465 | COL11A2 | n.720C>T c.4914C>T (p.Thr1638=) c.4593C>T (p.Thr1531=) c.4656C>T (p.Thr1552=) n.704C>T c.4068C>T (p.Thr1356=) c.4200C>T (p.Thr1400=) c.4020C>T (p.Thr1340=) c.3957C>T (p.Thr1319=) c.3801C>T (p.Thr1267=) c.3732C>T (p.Thr1244=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164423G>C | CA449867049 | COL11A2 | n.720C>G c.4914C>G (p.Thr1638=) c.4593C>G (p.Thr1531=) c.4656C>G (p.Thr1552=) n.704C>G c.4068C>G (p.Thr1356=) c.4200C>G (p.Thr1400=) c.4020C>G (p.Thr1340=) c.3957C>G (p.Thr1319=) c.3801C>G (p.Thr1267=) c.3732C>G (p.Thr1244=) | |
6 | g.33164423G= | CA1619889817 | COL11A2 | n.720C= c.4914C= (p.Thr1638=) c.4593C= (p.Thr1531=) c.4656C= (p.Thr1552=) n.704C= c.4068C= (p.Thr1356=) c.4200C= (p.Thr1400=) c.4020C= (p.Thr1340=) c.3957C= (p.Thr1319=) c.3801C= (p.Thr1267=) c.3732C= (p.Thr1244=) | |
6 | g.33164423G>T | CA449867047 | COL11A2 | n.720C>A c.4914C>A (p.Thr1638=) c.4593C>A (p.Thr1531=) c.4656C>A (p.Thr1552=) n.704C>A c.4068C>A (p.Thr1356=) c.4200C>A (p.Thr1400=) c.4020C>A (p.Thr1340=) c.3957C>A (p.Thr1319=) c.3801C>A (p.Thr1267=) c.3732C>A (p.Thr1244=) | |
6 | g.33164424G>A | CA363616457 | COL11A2 | n.719C>T c.4913C>T (p.Thr1638Ile) c.4592C>T (p.Thr1531Ile) c.4655C>T (p.Thr1552Ile) n.703C>T c.4067C>T (p.Thr1356Ile) c.4199C>T (p.Thr1400Ile) c.4019C>T (p.Thr1340Ile) c.3956C>T (p.Thr1319Ile) c.3800C>T (p.Thr1267Ile) c.3731C>T (p.Thr1244Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164424G>C | CA363616447 | COL11A2 | n.719C>G c.4913C>G (p.Thr1638Ser) c.4592C>G (p.Thr1531Ser) c.4655C>G (p.Thr1552Ser) n.703C>G c.4067C>G (p.Thr1356Ser) c.4199C>G (p.Thr1400Ser) c.4019C>G (p.Thr1340Ser) c.3956C>G (p.Thr1319Ser) c.3800C>G (p.Thr1267Ser) c.3731C>G (p.Thr1244Ser) | |
6 | g.33164424G= | CA1619889820 | COL11A2 | n.719C= c.4913C= (p.Thr1638=) c.4592C= (p.Thr1531=) c.4655C= (p.Thr1552=) n.703C= c.4067C= (p.Thr1356=) c.4199C= (p.Thr1400=) c.4019C= (p.Thr1340=) c.3956C= (p.Thr1319=) c.3800C= (p.Thr1267=) c.3731C= (p.Thr1244=) | |
6 | g.33164424G>T | CA363616450 | COL11A2 | n.719C>A c.4913C>A (p.Thr1638Asn) c.4592C>A (p.Thr1531Asn) c.4655C>A (p.Thr1552Asn) n.703C>A c.4067C>A (p.Thr1356Asn) c.4199C>A (p.Thr1400Asn) c.4019C>A (p.Thr1340Asn) c.3956C>A (p.Thr1319Asn) c.3800C>A (p.Thr1267Asn) c.3731C>A (p.Thr1244Asn) | COSMIC |
6 | g.33164425T>A | CA363616460 | COL11A2 | n.718A>T c.4912A>T (p.Thr1638Ser) c.4591A>T (p.Thr1531Ser) c.4654A>T (p.Thr1552Ser) n.702A>T c.4066A>T (p.Thr1356Ser) c.4198A>T (p.Thr1400Ser) c.4018A>T (p.Thr1340Ser) c.3955A>T (p.Thr1319Ser) c.3799A>T (p.Thr1267Ser) c.3730A>T (p.Thr1244Ser) | |
6 | g.33164425T>C | CA363616462 | COL11A2 | n.718A>G c.4912A>G (p.Thr1638Ala) c.4591A>G (p.Thr1531Ala) c.4654A>G (p.Thr1552Ala) n.702A>G c.4066A>G (p.Thr1356Ala) c.4198A>G (p.Thr1400Ala) c.4018A>G (p.Thr1340Ala) c.3955A>G (p.Thr1319Ala) c.3799A>G (p.Thr1267Ala) c.3730A>G (p.Thr1244Ala) | |
6 | g.33164425T>G | CA363616464 | COL11A2 | n.718A>C c.4912A>C (p.Thr1638Pro) c.4591A>C (p.Thr1531Pro) c.4654A>C (p.Thr1552Pro) n.702A>C c.4066A>C (p.Thr1356Pro) c.4198A>C (p.Thr1400Pro) c.4018A>C (p.Thr1340Pro) c.3955A>C (p.Thr1319Pro) c.3799A>C (p.Thr1267Pro) c.3730A>C (p.Thr1244Pro) | |
6 | g.33164426G>A | CA3749958 | COL11A2 | n.717C>T c.4911C>T (p.Leu1637=) c.4590C>T (p.Leu1530=) c.4653C>T (p.Leu1551=) n.701C>T c.4065C>T (p.Leu1355=) c.4197C>T (p.Leu1399=) c.4017C>T (p.Leu1339=) c.3954C>T (p.Leu1318=) c.3798C>T (p.Leu1266=) c.3729C>T (p.Leu1243=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.33164426G>C | CA449867053 | COL11A2 | n.717C>G c.4911C>G (p.Leu1637=) c.4590C>G (p.Leu1530=) c.4653C>G (p.Leu1551=) n.701C>G c.4065C>G (p.Leu1355=) c.4197C>G (p.Leu1399=) c.4017C>G (p.Leu1339=) c.3954C>G (p.Leu1318=) c.3798C>G (p.Leu1266=) c.3729C>G (p.Leu1243=) | |
6 | g.33164426G= | CA1619889823 | COL11A2 | n.717C= c.4911C= (p.Leu1637=) c.4590C= (p.Leu1530=) c.4653C= (p.Leu1551=) n.701C= c.4065C= (p.Leu1355=) c.4197C= (p.Leu1399=) c.4017C= (p.Leu1339=) c.3954C= (p.Leu1318=) c.3798C= (p.Leu1266=) c.3729C= (p.Leu1243=) | |
6 | g.33164426G>T | CA449867054 | COL11A2 | n.717C>A c.4911C>A (p.Leu1637=) c.4590C>A (p.Leu1530=) c.4653C>A (p.Leu1551=) n.701C>A c.4065C>A (p.Leu1355=) c.4197C>A (p.Leu1399=) c.4017C>A (p.Leu1339=) c.3954C>A (p.Leu1318=) c.3798C>A (p.Leu1266=) c.3729C>A (p.Leu1243=) | |
6 | g.33164427A>C | CA363616467 | COL11A2 | n.716T>G c.4910T>G (p.Leu1637Arg) c.4589T>G (p.Leu1530Arg) c.4652T>G (p.Leu1551Arg) n.700T>G c.4064T>G (p.Leu1355Arg) c.4196T>G (p.Leu1399Arg) c.4016T>G (p.Leu1339Arg) c.3953T>G (p.Leu1318Arg) c.3797T>G (p.Leu1266Arg) c.3728T>G (p.Leu1243Arg) | |
6 | g.33164427A>G | CA363616470 | COL11A2 | n.716T>C c.4910T>C (p.Leu1637Pro) c.4589T>C (p.Leu1530Pro) c.4652T>C (p.Leu1551Pro) n.700T>C c.4064T>C (p.Leu1355Pro) c.4196T>C (p.Leu1399Pro) c.4016T>C (p.Leu1339Pro) c.3953T>C (p.Leu1318Pro) c.3797T>C (p.Leu1266Pro) c.3728T>C (p.Leu1243Pro) | gnomAD v4 |
6 | g.33164427A>T | CA363616473 | COL11A2 | n.716T>A c.4910T>A (p.Leu1637His) c.4589T>A (p.Leu1530His) c.4652T>A (p.Leu1551His) n.700T>A c.4064T>A (p.Leu1355His) c.4196T>A (p.Leu1399His) c.4016T>A (p.Leu1339His) c.3953T>A (p.Leu1318His) c.3797T>A (p.Leu1266His) c.3728T>A (p.Leu1243His) | |
6 | g.33164428G>A | CA363616475 | COL11A2 | n.715C>T c.4909C>T (p.Leu1637Phe) c.4588C>T (p.Leu1530Phe) c.4651C>T (p.Leu1551Phe) n.699C>T c.4063C>T (p.Leu1355Phe) c.4195C>T (p.Leu1399Phe) c.4015C>T (p.Leu1339Phe) c.3952C>T (p.Leu1318Phe) c.3796C>T (p.Leu1266Phe) c.3727C>T (p.Leu1243Phe) | gnomAD v4 |
6 | g.33164428G>C | CA363616478 | COL11A2 | n.715C>G c.4909C>G (p.Leu1637Val) c.4588C>G (p.Leu1530Val) c.4651C>G (p.Leu1551Val) n.699C>G c.4063C>G (p.Leu1355Val) c.4195C>G (p.Leu1399Val) c.4015C>G (p.Leu1339Val) c.3952C>G (p.Leu1318Val) c.3796C>G (p.Leu1266Val) c.3727C>G (p.Leu1243Val) | dbSNP gnomAD v2 |
6 | g.33164428G= | CA1619889826 | COL11A2 | n.715C= c.4909C= (p.Leu1637=) c.4588C= (p.Leu1530=) c.4651C= (p.Leu1551=) n.699C= c.4063C= (p.Leu1355=) c.4195C= (p.Leu1399=) c.4015C= (p.Leu1339=) c.3952C= (p.Leu1318=) c.3796C= (p.Leu1266=) c.3727C= (p.Leu1243=) | |
6 | g.33164428G>T | CA363616481 | COL11A2 | n.715C>A c.4909C>A (p.Leu1637Ile) c.4588C>A (p.Leu1530Ile) c.4651C>A (p.Leu1551Ile) n.699C>A c.4063C>A (p.Leu1355Ile) c.4195C>A (p.Leu1399Ile) c.4015C>A (p.Leu1339Ile) c.3952C>A (p.Leu1318Ile) c.3796C>A (p.Leu1266Ile) c.3727C>A (p.Leu1243Ile) | |
6 | g.33164429C>A | CA363616483 | COL11A2 | n.714G>T c.4908G>T (p.Gln1636His) c.4587G>T (p.Gln1529His) c.4650G>T (p.Gln1550His) n.698G>T c.4062G>T (p.Gln1354His) c.4194G>T (p.Gln1398His) c.4014G>T (p.Gln1338His) c.3951G>T (p.Gln1317His) c.3795G>T (p.Gln1265His) c.3726G>T (p.Gln1242His) | gnomAD v4 |
6 | g.33164429C= | CA1619889829 | COL11A2 | n.714G= c.4908G= (p.Gln1636=) c.4587G= (p.Gln1529=) c.4650G= (p.Gln1550=) n.698G= c.4062G= (p.Gln1354=) c.4194G= (p.Gln1398=) c.4014G= (p.Gln1338=) c.3951G= (p.Gln1317=) c.3795G= (p.Gln1265=) c.3726G= (p.Gln1242=) | |
6 | g.33164429C>G | CA363616486 | COL11A2 | n.714G>C c.4908G>C (p.Gln1636His) c.4587G>C (p.Gln1529His) c.4650G>C (p.Gln1550His) n.698G>C c.4062G>C (p.Gln1354His) c.4194G>C (p.Gln1398His) c.4014G>C (p.Gln1338His) c.3951G>C (p.Gln1317His) c.3795G>C (p.Gln1265His) c.3726G>C (p.Gln1242His) | |
6 | g.33164429C>T | CA449867055 | COL11A2 | n.714G>A c.4908G>A (p.Gln1636=) c.4587G>A (p.Gln1529=) c.4650G>A (p.Gln1550=) n.698G>A c.4062G>A (p.Gln1354=) c.4194G>A (p.Gln1398=) c.4014G>A (p.Gln1338=) c.3951G>A (p.Gln1317=) c.3795G>A (p.Gln1265=) c.3726G>A (p.Gln1242=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164430T>A | CA363616493 | COL11A2 | n.713A>T c.4907A>T (p.Gln1636Leu) c.4586A>T (p.Gln1529Leu) c.4649A>T (p.Gln1550Leu) n.697A>T c.4061A>T (p.Gln1354Leu) c.4193A>T (p.Gln1398Leu) c.4013A>T (p.Gln1338Leu) c.3950A>T (p.Gln1317Leu) c.3794A>T (p.Gln1265Leu) c.3725A>T (p.Gln1242Leu) | |
6 | g.33164430T>C | CA363616490 | COL11A2 | n.713A>G c.4907A>G (p.Gln1636Arg) c.4586A>G (p.Gln1529Arg) c.4649A>G (p.Gln1550Arg) n.697A>G c.4061A>G (p.Gln1354Arg) c.4193A>G (p.Gln1398Arg) c.4013A>G (p.Gln1338Arg) c.3950A>G (p.Gln1317Arg) c.3794A>G (p.Gln1265Arg) c.3725A>G (p.Gln1242Arg) | dbSNP |
6 | g.33164430T>G | CA363616488 | COL11A2 | n.713A>C c.4907A>C (p.Gln1636Pro) c.4586A>C (p.Gln1529Pro) c.4649A>C (p.Gln1550Pro) n.697A>C c.4061A>C (p.Gln1354Pro) c.4193A>C (p.Gln1398Pro) c.4013A>C (p.Gln1338Pro) c.3950A>C (p.Gln1317Pro) c.3794A>C (p.Gln1265Pro) c.3725A>C (p.Gln1242Pro) | |
6 | g.33164430T= | CA1619889831 | COL11A2 | n.713A= c.4907A= (p.Gln1636=) c.4586A= (p.Gln1529=) c.4649A= (p.Gln1550=) n.697A= c.4061A= (p.Gln1354=) c.4193A= (p.Gln1398=) c.4013A= (p.Gln1338=) c.3950A= (p.Gln1317=) c.3794A= (p.Gln1265=) c.3725A= (p.Gln1242=) | |
6 | g.33164431G>A | CA363616497 | COL11A2 | n.712C>T c.4906C>T (p.Gln1636Ter) c.4585C>T (p.Gln1529Ter) c.4648C>T (p.Gln1550Ter) n.696C>T c.4060C>T (p.Gln1354Ter) c.4192C>T (p.Gln1398Ter) c.4012C>T (p.Gln1338Ter) c.3949C>T (p.Gln1317Ter) c.3793C>T (p.Gln1265Ter) c.3724C>T (p.Gln1242Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164431G>C | CA363616495 | COL11A2 | n.712C>G c.4906C>G (p.Gln1636Glu) c.4585C>G (p.Gln1529Glu) c.4648C>G (p.Gln1550Glu) n.696C>G c.4060C>G (p.Gln1354Glu) c.4192C>G (p.Gln1398Glu) c.4012C>G (p.Gln1338Glu) c.3949C>G (p.Gln1317Glu) c.3793C>G (p.Gln1265Glu) c.3724C>G (p.Gln1242Glu) | |
6 | g.33164431G= | CA1619889833 | COL11A2 | n.712C= c.4906C= (p.Gln1636=) c.4585C= (p.Gln1529=) c.4648C= (p.Gln1550=) n.696C= c.4060C= (p.Gln1354=) c.4192C= (p.Gln1398=) c.4012C= (p.Gln1338=) c.3949C= (p.Gln1317=) c.3793C= (p.Gln1265=) c.3724C= (p.Gln1242=) | |
6 | g.33164431G>T | CA363616500 | COL11A2 | n.712C>A c.4906C>A (p.Gln1636Lys) c.4585C>A (p.Gln1529Lys) c.4648C>A (p.Gln1550Lys) n.696C>A c.4060C>A (p.Gln1354Lys) c.4192C>A (p.Gln1398Lys) c.4012C>A (p.Gln1338Lys) c.3949C>A (p.Gln1317Lys) c.3793C>A (p.Gln1265Lys) c.3724C>A (p.Gln1242Lys) | gnomAD v4 |
6 | g.33164432G>A | CA449867056 | COL11A2 | n.711C>T c.4905C>T (p.Val1635=) c.4584C>T (p.Val1528=) c.4647C>T (p.Val1549=) n.695C>T c.4059C>T (p.Val1353=) c.4191C>T (p.Val1397=) c.4011C>T (p.Val1337=) c.3948C>T (p.Val1316=) c.3792C>T (p.Val1264=) c.3723C>T (p.Val1241=) | gnomAD v4 |
6 | g.33164432G>C | CA449867057 | COL11A2 | n.711C>G c.4905C>G (p.Val1635=) c.4584C>G (p.Val1528=) c.4647C>G (p.Val1549=) n.695C>G c.4059C>G (p.Val1353=) c.4191C>G (p.Val1397=) c.4011C>G (p.Val1337=) c.3948C>G (p.Val1316=) c.3792C>G (p.Val1264=) c.3723C>G (p.Val1241=) | |
6 | g.33164432G>T | CA449867058 | COL11A2 | n.711C>A c.4905C>A (p.Val1635=) c.4584C>A (p.Val1528=) c.4647C>A (p.Val1549=) n.695C>A c.4059C>A (p.Val1353=) c.4191C>A (p.Val1397=) c.4011C>A (p.Val1337=) c.3948C>A (p.Val1316=) c.3792C>A (p.Val1264=) c.3723C>A (p.Val1241=) | gnomAD v4 |
6 | g.33164433A= | CA1619889834 | COL11A2 | n.710T= c.4904T= (p.Val1635=) c.4583T= (p.Val1528=) c.4646T= (p.Val1549=) n.694T= c.4058T= (p.Val1353=) c.4190T= (p.Val1397=) c.4010T= (p.Val1337=) c.3947T= (p.Val1316=) c.3791T= (p.Val1264=) c.3722T= (p.Val1241=) | |
6 | g.33164433A>C | CA363616502 | COL11A2 | n.710T>G c.4904T>G (p.Val1635Gly) c.4583T>G (p.Val1528Gly) c.4646T>G (p.Val1549Gly) n.694T>G c.4058T>G (p.Val1353Gly) c.4190T>G (p.Val1397Gly) c.4010T>G (p.Val1337Gly) c.3947T>G (p.Val1316Gly) c.3791T>G (p.Val1264Gly) c.3722T>G (p.Val1241Gly) | |
6 | g.33164433A>G | CA363616504 | COL11A2 | n.710T>C c.4904T>C (p.Val1635Ala) c.4583T>C (p.Val1528Ala) c.4646T>C (p.Val1549Ala) n.694T>C c.4058T>C (p.Val1353Ala) c.4190T>C (p.Val1397Ala) c.4010T>C (p.Val1337Ala) c.3947T>C (p.Val1316Ala) c.3791T>C (p.Val1264Ala) c.3722T>C (p.Val1241Ala) | dbSNP |
6 | g.33164433A>T | CA363616505 | COL11A2 | n.710T>A c.4904T>A (p.Val1635Asp) c.4583T>A (p.Val1528Asp) c.4646T>A (p.Val1549Asp) n.694T>A c.4058T>A (p.Val1353Asp) c.4190T>A (p.Val1397Asp) c.4010T>A (p.Val1337Asp) c.3947T>A (p.Val1316Asp) c.3791T>A (p.Val1264Asp) c.3722T>A (p.Val1241Asp) | gnomAD v4 |
6 | g.33164434C>A | CA363616508 | COL11A2 | n.709G>T c.4903G>T (p.Val1635Phe) c.4582G>T (p.Val1528Phe) c.4645G>T (p.Val1549Phe) n.693G>T c.4057G>T (p.Val1353Phe) c.4189G>T (p.Val1397Phe) c.4009G>T (p.Val1337Phe) c.3946G>T (p.Val1316Phe) c.3790G>T (p.Val1264Phe) c.3721G>T (p.Val1241Phe) | gnomAD v4 |
6 | g.33164434C= | CA1619889836 | COL11A2 | n.709G= c.4903G= (p.Val1635=) c.4582G= (p.Val1528=) c.4645G= (p.Val1549=) n.693G= c.4057G= (p.Val1353=) c.4189G= (p.Val1397=) c.4009G= (p.Val1337=) c.3946G= (p.Val1316=) c.3790G= (p.Val1264=) c.3721G= (p.Val1241=) | |
6 | g.33164434C>G | CA363616511 | COL11A2 | n.709G>C c.4903G>C (p.Val1635Leu) c.4582G>C (p.Val1528Leu) c.4645G>C (p.Val1549Leu) n.693G>C c.4057G>C (p.Val1353Leu) c.4189G>C (p.Val1397Leu) c.4009G>C (p.Val1337Leu) c.3946G>C (p.Val1316Leu) c.3790G>C (p.Val1264Leu) c.3721G>C (p.Val1241Leu) | gnomAD v4 |
6 | g.33164434C>T | CA363616514 | COL11A2 | n.709G>A c.4903G>A (p.Val1635Ile) c.4582G>A (p.Val1528Ile) c.4645G>A (p.Val1549Ile) n.693G>A c.4057G>A (p.Val1353Ile) c.4189G>A (p.Val1397Ile) c.4009G>A (p.Val1337Ile) c.3946G>A (p.Val1316Ile) c.3790G>A (p.Val1264Ile) c.3721G>A (p.Val1241Ile) | dbSNP gnomAD v2 |
6 | g.33164435del | CA2678226373 | COL11A2 | n.709del c.4903del (p.Val1635SerfsTer30) c.4582del (p.Val1528SerfsTer30) c.4645del (p.Val1549SerfsTer30) n.693del c.4057del (p.Val1353SerfsTer30) c.4189del (p.Val1397SerfsTer30) c.4009del (p.Val1337SerfsTer30) c.3946del (p.Val1316SerfsTer30) c.3790del (p.Val1264SerfsTer30) c.3721del (p.Val1241SerfsTer30) | gnomAD v4 |
6 | g.33164435C>A | CA449867059 | COL11A2 | n.708G>T c.4902G>T (p.Val1634=) c.4581G>T (p.Val1527=) c.4644G>T (p.Val1548=) n.692G>T c.4056G>T (p.Val1352=) c.4188G>T (p.Val1396=) c.4008G>T (p.Val1336=) c.3945G>T (p.Val1315=) c.3789G>T (p.Val1263=) c.3720G>T (p.Val1240=) | gnomAD v4 |
6 | g.33164435C>G | CA449867060 | COL11A2 | n.708G>C c.4902G>C (p.Val1634=) c.4581G>C (p.Val1527=) c.4644G>C (p.Val1548=) n.692G>C c.4056G>C (p.Val1352=) c.4188G>C (p.Val1396=) c.4008G>C (p.Val1336=) c.3945G>C (p.Val1315=) c.3789G>C (p.Val1263=) c.3720G>C (p.Val1240=) | |
6 | g.33164435C>T | CA449867061 | COL11A2 | n.708G>A c.4902G>A (p.Val1634=) c.4581G>A (p.Val1527=) c.4644G>A (p.Val1548=) n.692G>A c.4056G>A (p.Val1352=) c.4188G>A (p.Val1396=) c.4008G>A (p.Val1336=) c.3945G>A (p.Val1315=) c.3789G>A (p.Val1263=) c.3720G>A (p.Val1240=) | ClinVar |
6 | g.33164436A= | CA1619889838 | COL11A2 | n.707T= c.4901T= (p.Val1634=) c.4580T= (p.Val1527=) c.4643T= (p.Val1548=) n.691T= c.4055T= (p.Val1352=) c.4187T= (p.Val1396=) c.4007T= (p.Val1336=) c.3944T= (p.Val1315=) c.3788T= (p.Val1263=) c.3719T= (p.Val1240=) | |
6 | g.33164436A>C | CA363616515 | COL11A2 | n.707T>G c.4901T>G (p.Val1634Gly) c.4580T>G (p.Val1527Gly) c.4643T>G (p.Val1548Gly) n.691T>G c.4055T>G (p.Val1352Gly) c.4187T>G (p.Val1396Gly) c.4007T>G (p.Val1336Gly) c.3944T>G (p.Val1315Gly) c.3788T>G (p.Val1263Gly) c.3719T>G (p.Val1240Gly) | |
6 | g.33164436A>G | CA363616517 | COL11A2 | n.707T>C c.4901T>C (p.Val1634Ala) c.4580T>C (p.Val1527Ala) c.4643T>C (p.Val1548Ala) n.691T>C c.4055T>C (p.Val1352Ala) c.4187T>C (p.Val1396Ala) c.4007T>C (p.Val1336Ala) c.3944T>C (p.Val1315Ala) c.3788T>C (p.Val1263Ala) c.3719T>C (p.Val1240Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164436A>T | CA363616518 | COL11A2 | n.707T>A c.4901T>A (p.Val1634Glu) c.4580T>A (p.Val1527Glu) c.4643T>A (p.Val1548Glu) n.691T>A c.4055T>A (p.Val1352Glu) c.4187T>A (p.Val1396Glu) c.4007T>A (p.Val1336Glu) c.3944T>A (p.Val1315Glu) c.3788T>A (p.Val1263Glu) c.3719T>A (p.Val1240Glu) | |
6 | g.33164437C>A | CA363616520 | COL11A2 | n.706G>T c.4900G>T (p.Val1634Leu) c.4579G>T (p.Val1527Leu) c.4642G>T (p.Val1548Leu) n.690G>T c.4054G>T (p.Val1352Leu) c.4186G>T (p.Val1396Leu) c.4006G>T (p.Val1336Leu) c.3943G>T (p.Val1315Leu) c.3787G>T (p.Val1263Leu) c.3718G>T (p.Val1240Leu) | gnomAD v4 |
6 | g.33164437C>G | CA363616523 | COL11A2 | n.706G>C c.4900G>C (p.Val1634Leu) c.4579G>C (p.Val1527Leu) c.4642G>C (p.Val1548Leu) n.690G>C c.4054G>C (p.Val1352Leu) c.4186G>C (p.Val1396Leu) c.4006G>C (p.Val1336Leu) c.3943G>C (p.Val1315Leu) c.3787G>C (p.Val1263Leu) c.3718G>C (p.Val1240Leu) | |
6 | g.33164437C>T | CA363616524 | COL11A2 | n.706G>A c.4900G>A (p.Val1634Met) c.4579G>A (p.Val1527Met) c.4642G>A (p.Val1548Met) n.690G>A c.4054G>A (p.Val1352Met) c.4186G>A (p.Val1396Met) c.4006G>A (p.Val1336Met) c.3943G>A (p.Val1315Met) c.3787G>A (p.Val1263Met) c.3718G>A (p.Val1240Met) | gnomAD v4 |
6 | g.33164438A>C | CA449867062 | COL11A2 | n.705T>G c.4899T>G (p.Gly1633=) c.4578T>G (p.Gly1526=) c.4641T>G (p.Gly1547=) n.689T>G c.4053T>G (p.Gly1351=) c.4185T>G (p.Gly1395=) c.4005T>G (p.Gly1335=) c.3942T>G (p.Gly1314=) c.3786T>G (p.Gly1262=) c.3717T>G (p.Gly1239=) | |
6 | g.33164438A>G | CA449867063 | COL11A2 | n.705T>C c.4899T>C (p.Gly1633=) c.4578T>C (p.Gly1526=) c.4641T>C (p.Gly1547=) n.689T>C c.4053T>C (p.Gly1351=) c.4185T>C (p.Gly1395=) c.4005T>C (p.Gly1335=) c.3942T>C (p.Gly1314=) c.3786T>C (p.Gly1262=) c.3717T>C (p.Gly1239=) | |
6 | g.33164438A>T | CA449867064 | COL11A2 | n.705T>A c.4899T>A (p.Gly1633=) c.4578T>A (p.Gly1526=) c.4641T>A (p.Gly1547=) n.689T>A c.4053T>A (p.Gly1351=) c.4185T>A (p.Gly1395=) c.4005T>A (p.Gly1335=) c.3942T>A (p.Gly1314=) c.3786T>A (p.Gly1262=) c.3717T>A (p.Gly1239=) | |
6 | g.33164439C>A | CA363616530 | COL11A2 | n.704G>T c.4898G>T (p.Gly1633Val) c.4577G>T (p.Gly1526Val) c.4640G>T (p.Gly1547Val) n.688G>T c.4052G>T (p.Gly1351Val) c.4184G>T (p.Gly1395Val) c.4004G>T (p.Gly1335Val) c.3941G>T (p.Gly1314Val) c.3785G>T (p.Gly1262Val) c.3716G>T (p.Gly1239Val) | gnomAD v4 |
6 | g.33164439C= | CA1619889844 | COL11A2 | n.704G= c.4898G= (p.Gly1633=) c.4577G= (p.Gly1526=) c.4640G= (p.Gly1547=) n.688G= c.4052G= (p.Gly1351=) c.4184G= (p.Gly1395=) c.4004G= (p.Gly1335=) c.3941G= (p.Gly1314=) c.3785G= (p.Gly1262=) c.3716G= (p.Gly1239=) | |
6 | g.33164439C>G | CA363616527 | COL11A2 | n.704G>C c.4898G>C (p.Gly1633Ala) c.4577G>C (p.Gly1526Ala) c.4640G>C (p.Gly1547Ala) n.688G>C c.4052G>C (p.Gly1351Ala) c.4184G>C (p.Gly1395Ala) c.4004G>C (p.Gly1335Ala) c.3941G>C (p.Gly1314Ala) c.3785G>C (p.Gly1262Ala) c.3716G>C (p.Gly1239Ala) | gnomAD v4 |
6 | g.33164439C>T | CA3749959 | COL11A2 | n.704G>A c.4898G>A (p.Gly1633Asp) c.4577G>A (p.Gly1526Asp) c.4640G>A (p.Gly1547Asp) n.688G>A c.4052G>A (p.Gly1351Asp) c.4184G>A (p.Gly1395Asp) c.4004G>A (p.Gly1335Asp) c.3941G>A (p.Gly1314Asp) c.3785G>A (p.Gly1262Asp) c.3716G>A (p.Gly1239Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164440C>A | CA363616532 | COL11A2 | n.703G>T c.4897G>T (p.Gly1633Cys) c.4576G>T (p.Gly1526Cys) c.4639G>T (p.Gly1547Cys) n.687G>T c.4051G>T (p.Gly1351Cys) c.4183G>T (p.Gly1395Cys) c.4003G>T (p.Gly1335Cys) c.3940G>T (p.Gly1314Cys) c.3784G>T (p.Gly1262Cys) c.3715G>T (p.Gly1239Cys) | gnomAD v4 |
6 | g.33164440C= | CA1619889850 | COL11A2 | n.703G= c.4897G= (p.Gly1633=) c.4576G= (p.Gly1526=) c.4639G= (p.Gly1547=) n.687G= c.4051G= (p.Gly1351=) c.4183G= (p.Gly1395=) c.4003G= (p.Gly1335=) c.3940G= (p.Gly1314=) c.3784G= (p.Gly1262=) c.3715G= (p.Gly1239=) | |
6 | g.33164440C>G | CA3749960 | COL11A2 | n.703G>C c.4897G>C (p.Gly1633Arg) c.4576G>C (p.Gly1526Arg) c.4639G>C (p.Gly1547Arg) n.687G>C c.4051G>C (p.Gly1351Arg) c.4183G>C (p.Gly1395Arg) c.4003G>C (p.Gly1335Arg) c.3940G>C (p.Gly1314Arg) c.3784G>C (p.Gly1262Arg) c.3715G>C (p.Gly1239Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164440C>T | CA363616536 | COL11A2 | n.703G>A c.4897G>A (p.Gly1633Ser) c.4576G>A (p.Gly1526Ser) c.4639G>A (p.Gly1547Ser) n.687G>A c.4051G>A (p.Gly1351Ser) c.4183G>A (p.Gly1395Ser) c.4003G>A (p.Gly1335Ser) c.3940G>A (p.Gly1314Ser) c.3784G>A (p.Gly1262Ser) c.3715G>A (p.Gly1239Ser) | dbSNP gnomAD v2 |
6 | g.33164441C>A | CA449867065 | COL11A2 | n.702G>T c.4896G>T (p.Val1632=) c.4575G>T (p.Val1525=) c.4638G>T (p.Val1546=) n.686G>T c.4050G>T (p.Val1350=) c.4182G>T (p.Val1394=) c.4002G>T (p.Val1334=) c.3939G>T (p.Val1313=) c.3783G>T (p.Val1261=) c.3714G>T (p.Val1238=) | gnomAD v4 |
6 | g.33164441C= | CA1619889854 | COL11A2 | n.702G= c.4896G= (p.Val1632=) c.4575G= (p.Val1525=) c.4638G= (p.Val1546=) n.686G= c.4050G= (p.Val1350=) c.4182G= (p.Val1394=) c.4002G= (p.Val1334=) c.3939G= (p.Val1313=) c.3783G= (p.Val1261=) c.3714G= (p.Val1238=) | |
6 | g.33164441C>G | CA449867066 | COL11A2 | n.702G>C c.4896G>C (p.Val1632=) c.4575G>C (p.Val1525=) c.4638G>C (p.Val1546=) n.686G>C c.4050G>C (p.Val1350=) c.4182G>C (p.Val1394=) c.4002G>C (p.Val1334=) c.3939G>C (p.Val1313=) c.3783G>C (p.Val1261=) c.3714G>C (p.Val1238=) | |
6 | g.33164441C>T | CA449867067 | COL11A2 | n.702G>A c.4896G>A (p.Val1632=) c.4575G>A (p.Val1525=) c.4638G>A (p.Val1546=) n.686G>A c.4050G>A (p.Val1350=) c.4182G>A (p.Val1394=) c.4002G>A (p.Val1334=) c.3939G>A (p.Val1313=) c.3783G>A (p.Val1261=) c.3714G>A (p.Val1238=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.33164442A>C | CA363616538 | COL11A2 | n.701T>G c.4895T>G (p.Val1632Gly) c.4574T>G (p.Val1525Gly) c.4637T>G (p.Val1546Gly) n.685T>G c.4049T>G (p.Val1350Gly) c.4181T>G (p.Val1394Gly) c.4001T>G (p.Val1334Gly) c.3938T>G (p.Val1313Gly) c.3782T>G (p.Val1261Gly) c.3713T>G (p.Val1238Gly) | |
6 | g.33164442A>G | CA363616539 | COL11A2 | n.701T>C c.4895T>C (p.Val1632Ala) c.4574T>C (p.Val1525Ala) c.4637T>C (p.Val1546Ala) n.685T>C c.4049T>C (p.Val1350Ala) c.4181T>C (p.Val1394Ala) c.4001T>C (p.Val1334Ala) c.3938T>C (p.Val1313Ala) c.3782T>C (p.Val1261Ala) c.3713T>C (p.Val1238Ala) | |
6 | g.33164442A>T | CA363616540 | COL11A2 | n.701T>A c.4895T>A (p.Val1632Glu) c.4574T>A (p.Val1525Glu) c.4637T>A (p.Val1546Glu) n.685T>A c.4049T>A (p.Val1350Glu) c.4181T>A (p.Val1394Glu) c.4001T>A (p.Val1334Glu) c.3938T>A (p.Val1313Glu) c.3782T>A (p.Val1261Glu) c.3713T>A (p.Val1238Glu) | |
6 | g.33164443C>A | CA363616541 | COL11A2 | n.700G>T c.4894G>T (p.Val1632Leu) c.4573G>T (p.Val1525Leu) c.4636G>T (p.Val1546Leu) n.684G>T c.4048G>T (p.Val1350Leu) c.4180G>T (p.Val1394Leu) c.4000G>T (p.Val1334Leu) c.3937G>T (p.Val1313Leu) c.3781G>T (p.Val1261Leu) c.3712G>T (p.Val1238Leu) | gnomAD v4 |
6 | g.33164443C>G | CA363616542 | COL11A2 | n.700G>C c.4894G>C (p.Val1632Leu) c.4573G>C (p.Val1525Leu) c.4636G>C (p.Val1546Leu) n.684G>C c.4048G>C (p.Val1350Leu) c.4180G>C (p.Val1394Leu) c.4000G>C (p.Val1334Leu) c.3937G>C (p.Val1313Leu) c.3781G>C (p.Val1261Leu) c.3712G>C (p.Val1238Leu) | |
6 | g.33164443C>T | CA363616544 | COL11A2 | n.700G>A c.4894G>A (p.Val1632Met) c.4573G>A (p.Val1525Met) c.4636G>A (p.Val1546Met) n.684G>A c.4048G>A (p.Val1350Met) c.4180G>A (p.Val1394Met) c.4000G>A (p.Val1334Met) c.3937G>A (p.Val1313Met) c.3781G>A (p.Val1261Met) c.3712G>A (p.Val1238Met) | gnomAD v4 |
6 | g.33164444T>A | CA449867068 | COL11A2 | n.699A>T c.4893A>T (p.Pro1631=) c.4572A>T (p.Pro1524=) c.4635A>T (p.Pro1545=) n.683A>T c.4047A>T (p.Pro1349=) c.4179A>T (p.Pro1393=) c.3999A>T (p.Pro1333=) c.3936A>T (p.Pro1312=) c.3780A>T (p.Pro1260=) c.3711A>T (p.Pro1237=) | |
6 | g.33164444T>C | CA449867070 | COL11A2 | n.699A>G c.4893A>G (p.Pro1631=) c.4572A>G (p.Pro1524=) c.4635A>G (p.Pro1545=) n.683A>G c.4047A>G (p.Pro1349=) c.4179A>G (p.Pro1393=) c.3999A>G (p.Pro1333=) c.3936A>G (p.Pro1312=) c.3780A>G (p.Pro1260=) c.3711A>G (p.Pro1237=) | ClinVar gnomAD v4 |
6 | g.33164444T>G | CA449867069 | COL11A2 | n.699A>C c.4893A>C (p.Pro1631=) c.4572A>C (p.Pro1524=) c.4635A>C (p.Pro1545=) n.683A>C c.4047A>C (p.Pro1349=) c.4179A>C (p.Pro1393=) c.3999A>C (p.Pro1333=) c.3936A>C (p.Pro1312=) c.3780A>C (p.Pro1260=) c.3711A>C (p.Pro1237=) | |
6 | g.33164445G>A | CA363616545 | COL11A2 | n.698C>T c.4892C>T (p.Pro1631Leu) c.4571C>T (p.Pro1524Leu) c.4634C>T (p.Pro1545Leu) n.682C>T c.4046C>T (p.Pro1349Leu) c.4178C>T (p.Pro1393Leu) c.3998C>T (p.Pro1333Leu) c.3935C>T (p.Pro1312Leu) c.3779C>T (p.Pro1260Leu) c.3710C>T (p.Pro1237Leu) | gnomAD v4 |
6 | g.33164445G>C | CA363616546 | COL11A2 | n.698C>G c.4892C>G (p.Pro1631Arg) c.4571C>G (p.Pro1524Arg) c.4634C>G (p.Pro1545Arg) n.682C>G c.4046C>G (p.Pro1349Arg) c.4178C>G (p.Pro1393Arg) c.3998C>G (p.Pro1333Arg) c.3935C>G (p.Pro1312Arg) c.3779C>G (p.Pro1260Arg) c.3710C>G (p.Pro1237Arg) | |
6 | g.33164445G>T | CA363616549 | COL11A2 | n.698C>A c.4892C>A (p.Pro1631Gln) c.4571C>A (p.Pro1524Gln) c.4634C>A (p.Pro1545Gln) n.682C>A c.4046C>A (p.Pro1349Gln) c.4178C>A (p.Pro1393Gln) c.3998C>A (p.Pro1333Gln) c.3935C>A (p.Pro1312Gln) c.3779C>A (p.Pro1260Gln) c.3710C>A (p.Pro1237Gln) | gnomAD v4 |
6 | g.33164448del | CA2578581069 | COL11A2 | n.698del c.4892del (p.Pro1631GlnfsTer?) c.4571del (p.Pro1524GlnfsTer?) c.4634del (p.Pro1545GlnfsTer?) n.682del c.4046del (p.Pro1349GlnfsTer?) c.4178del (p.Pro1393GlnfsTer?) c.3998del (p.Pro1333GlnfsTer?) c.3935del (p.Pro1312GlnfsTer?) c.3779del (p.Pro1260GlnfsTer?) c.3710del (p.Pro1237GlnfsTer?) | gnomAD v4 |
6 | g.33164446G>A | CA363616556 | COL11A2 | n.697C>T c.4891C>T (p.Pro1631Ser) c.4570C>T (p.Pro1524Ser) c.4633C>T (p.Pro1545Ser) n.681C>T c.4045C>T (p.Pro1349Ser) c.4177C>T (p.Pro1393Ser) c.3997C>T (p.Pro1333Ser) c.3934C>T (p.Pro1312Ser) c.3778C>T (p.Pro1260Ser) c.3709C>T (p.Pro1237Ser) | |
6 | g.33164446G>C | CA363616554 | COL11A2 | n.697C>G c.4891C>G (p.Pro1631Ala) c.4570C>G (p.Pro1524Ala) c.4633C>G (p.Pro1545Ala) n.681C>G c.4045C>G (p.Pro1349Ala) c.4177C>G (p.Pro1393Ala) c.3997C>G (p.Pro1333Ala) c.3934C>G (p.Pro1312Ala) c.3778C>G (p.Pro1260Ala) c.3709C>G (p.Pro1237Ala) | |
6 | g.33164446G>T | CA363616551 | COL11A2 | n.697C>A c.4891C>A (p.Pro1631Thr) c.4570C>A (p.Pro1524Thr) c.4633C>A (p.Pro1545Thr) n.681C>A c.4045C>A (p.Pro1349Thr) c.4177C>A (p.Pro1393Thr) c.3997C>A (p.Pro1333Thr) c.3934C>A (p.Pro1312Thr) c.3778C>A (p.Pro1260Thr) c.3709C>A (p.Pro1237Thr) | gnomAD v4 |
6 | g.33164447G>A | CA449867071 | COL11A2 | n.696C>T c.4890C>T (p.Ser1630=) c.4569C>T (p.Ser1523=) c.4632C>T (p.Ser1544=) n.680C>T c.4044C>T (p.Ser1348=) c.4176C>T (p.Ser1392=) c.3996C>T (p.Ser1332=) c.3933C>T (p.Ser1311=) c.3777C>T (p.Ser1259=) c.3708C>T (p.Ser1236=) | |
6 | g.33164447G>C | CA449867072 | COL11A2 | n.696C>G c.4890C>G (p.Ser1630=) c.4569C>G (p.Ser1523=) c.4632C>G (p.Ser1544=) n.680C>G c.4044C>G (p.Ser1348=) c.4176C>G (p.Ser1392=) c.3996C>G (p.Ser1332=) c.3933C>G (p.Ser1311=) c.3777C>G (p.Ser1259=) c.3708C>G (p.Ser1236=) | dbSNP |
6 | g.33164447G= | CA1619889858 | COL11A2 | n.696C= c.4890C= (p.Ser1630=) c.4569C= (p.Ser1523=) c.4632C= (p.Ser1544=) n.680C= c.4044C= (p.Ser1348=) c.4176C= (p.Ser1392=) c.3996C= (p.Ser1332=) c.3933C= (p.Ser1311=) c.3777C= (p.Ser1259=) c.3708C= (p.Ser1236=) | |
6 | g.33164447G>T | CA449867073 | COL11A2 | n.696C>A c.4890C>A (p.Ser1630=) c.4569C>A (p.Ser1523=) c.4632C>A (p.Ser1544=) n.680C>A c.4044C>A (p.Ser1348=) c.4176C>A (p.Ser1392=) c.3996C>A (p.Ser1332=) c.3933C>A (p.Ser1311=) c.3777C>A (p.Ser1259=) c.3708C>A (p.Ser1236=) | gnomAD v4 |
6 | g.33164448G>A | CA3749961 | COL11A2 | n.695C>T c.4889C>T (p.Ser1630Phe) c.4568C>T (p.Ser1523Phe) c.4631C>T (p.Ser1544Phe) n.679C>T c.4043C>T (p.Ser1348Phe) c.4175C>T (p.Ser1392Phe) c.3995C>T (p.Ser1332Phe) c.3932C>T (p.Ser1311Phe) c.3776C>T (p.Ser1259Phe) c.3707C>T (p.Ser1236Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164448G>C | CA363616560 | COL11A2 | n.695C>G c.4889C>G (p.Ser1630Cys) c.4568C>G (p.Ser1523Cys) c.4631C>G (p.Ser1544Cys) n.679C>G c.4043C>G (p.Ser1348Cys) c.4175C>G (p.Ser1392Cys) c.3995C>G (p.Ser1332Cys) c.3932C>G (p.Ser1311Cys) c.3776C>G (p.Ser1259Cys) c.3707C>G (p.Ser1236Cys) | |
6 | g.33164448G= | CA1619889861 | COL11A2 | n.695C= c.4889C= (p.Ser1630=) c.4568C= (p.Ser1523=) c.4631C= (p.Ser1544=) n.679C= c.4043C= (p.Ser1348=) c.4175C= (p.Ser1392=) c.3995C= (p.Ser1332=) c.3932C= (p.Ser1311=) c.3776C= (p.Ser1259=) c.3707C= (p.Ser1236=) | |
6 | g.33164448G>T | CA363616562 | COL11A2 | n.695C>A c.4889C>A (p.Ser1630Tyr) c.4568C>A (p.Ser1523Tyr) c.4631C>A (p.Ser1544Tyr) n.679C>A c.4043C>A (p.Ser1348Tyr) c.4175C>A (p.Ser1392Tyr) c.3995C>A (p.Ser1332Tyr) c.3932C>A (p.Ser1311Tyr) c.3776C>A (p.Ser1259Tyr) c.3707C>A (p.Ser1236Tyr) | gnomAD v4 |
6 | g.33164449A>C | CA363616565 | COL11A2 | n.694T>G c.4888T>G (p.Ser1630Ala) c.4567T>G (p.Ser1523Ala) c.4630T>G (p.Ser1544Ala) n.678T>G c.4042T>G (p.Ser1348Ala) c.4174T>G (p.Ser1392Ala) c.3994T>G (p.Ser1332Ala) c.3931T>G (p.Ser1311Ala) c.3775T>G (p.Ser1259Ala) c.3706T>G (p.Ser1236Ala) | |
6 | g.33164449A>G | CA363616566 | COL11A2 | n.694T>C c.4888T>C (p.Ser1630Pro) c.4567T>C (p.Ser1523Pro) c.4630T>C (p.Ser1544Pro) n.678T>C c.4042T>C (p.Ser1348Pro) c.4174T>C (p.Ser1392Pro) c.3994T>C (p.Ser1332Pro) c.3931T>C (p.Ser1311Pro) c.3775T>C (p.Ser1259Pro) c.3706T>C (p.Ser1236Pro) | gnomAD v4 |
6 | g.33164449A>T | CA363616568 | COL11A2 | n.694T>A c.4888T>A (p.Ser1630Thr) c.4567T>A (p.Ser1523Thr) c.4630T>A (p.Ser1544Thr) n.678T>A c.4042T>A (p.Ser1348Thr) c.4174T>A (p.Ser1392Thr) c.3994T>A (p.Ser1332Thr) c.3931T>A (p.Ser1311Thr) c.3775T>A (p.Ser1259Thr) c.3706T>A (p.Ser1236Thr) | |
6 | g.33164450G>A | CA449867074 | COL11A2 | n.693C>T c.4887C>T (p.Gly1629=) c.4566C>T (p.Gly1522=) c.4629C>T (p.Gly1543=) n.677C>T c.4041C>T (p.Gly1347=) c.4173C>T (p.Gly1391=) c.3993C>T (p.Gly1331=) c.3930C>T (p.Gly1310=) c.3774C>T (p.Gly1258=) c.3705C>T (p.Gly1235=) | gnomAD v4 |
6 | g.33164450G>C | CA449867075 | COL11A2 | n.693C>G c.4887C>G (p.Gly1629=) c.4566C>G (p.Gly1522=) c.4629C>G (p.Gly1543=) n.677C>G c.4041C>G (p.Gly1347=) c.4173C>G (p.Gly1391=) c.3993C>G (p.Gly1331=) c.3930C>G (p.Gly1310=) c.3774C>G (p.Gly1258=) c.3705C>G (p.Gly1235=) | |
6 | g.33164450G>T | CA449867076 | COL11A2 | n.693C>A c.4887C>A (p.Gly1629=) c.4566C>A (p.Gly1522=) c.4629C>A (p.Gly1543=) n.677C>A c.4041C>A (p.Gly1347=) c.4173C>A (p.Gly1391=) c.3993C>A (p.Gly1331=) c.3930C>A (p.Gly1310=) c.3774C>A (p.Gly1258=) c.3705C>A (p.Gly1235=) | gnomAD v4 |
6 | g.33164451C>A | CA363616574 | COL11A2 | n.692G>T c.4886G>T (p.Gly1629Val) c.4565G>T (p.Gly1522Val) c.4628G>T (p.Gly1543Val) n.676G>T c.4040G>T (p.Gly1347Val) c.4172G>T (p.Gly1391Val) c.3992G>T (p.Gly1331Val) c.3929G>T (p.Gly1310Val) c.3773G>T (p.Gly1258Val) c.3704G>T (p.Gly1235Val) | gnomAD v4 |
6 | g.33164451C= | CA1619889865 | COL11A2 | n.692G= c.4886G= (p.Gly1629=) c.4565G= (p.Gly1522=) c.4628G= (p.Gly1543=) n.676G= c.4040G= (p.Gly1347=) c.4172G= (p.Gly1391=) c.3992G= (p.Gly1331=) c.3929G= (p.Gly1310=) c.3773G= (p.Gly1258=) c.3704G= (p.Gly1235=) | |
6 | g.33164451C>G | CA363616571 | COL11A2 | n.692G>C c.4886G>C (p.Gly1629Ala) c.4565G>C (p.Gly1522Ala) c.4628G>C (p.Gly1543Ala) n.676G>C c.4040G>C (p.Gly1347Ala) c.4172G>C (p.Gly1391Ala) c.3992G>C (p.Gly1331Ala) c.3929G>C (p.Gly1310Ala) c.3773G>C (p.Gly1258Ala) c.3704G>C (p.Gly1235Ala) | gnomAD v4 |
6 | g.33164451C>T | CA363616573 | COL11A2 | n.692G>A c.4886G>A (p.Gly1629Asp) c.4565G>A (p.Gly1522Asp) c.4628G>A (p.Gly1543Asp) n.676G>A c.4040G>A (p.Gly1347Asp) c.4172G>A (p.Gly1391Asp) c.3992G>A (p.Gly1331Asp) c.3929G>A (p.Gly1310Asp) c.3773G>A (p.Gly1258Asp) c.3704G>A (p.Gly1235Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164452C>A | CA363616578 | COL11A2 | n.691G>T c.4885G>T (p.Gly1629Cys) c.4564G>T (p.Gly1522Cys) c.4627G>T (p.Gly1543Cys) n.675G>T c.4039G>T (p.Gly1347Cys) c.4171G>T (p.Gly1391Cys) c.3991G>T (p.Gly1331Cys) c.3928G>T (p.Gly1310Cys) c.3772G>T (p.Gly1258Cys) c.3703G>T (p.Gly1235Cys) | gnomAD v4 |
6 | g.33164452C= | CA1619889869 | COL11A2 | n.691G= c.4885G= (p.Gly1629=) c.4564G= (p.Gly1522=) c.4627G= (p.Gly1543=) n.675G= c.4039G= (p.Gly1347=) c.4171G= (p.Gly1391=) c.3991G= (p.Gly1331=) c.3928G= (p.Gly1310=) c.3772G= (p.Gly1258=) c.3703G= (p.Gly1235=) | |
6 | g.33164452C>G | CA363616580 | COL11A2 | n.691G>C c.4885G>C (p.Gly1629Arg) c.4564G>C (p.Gly1522Arg) c.4627G>C (p.Gly1543Arg) n.675G>C c.4039G>C (p.Gly1347Arg) c.4171G>C (p.Gly1391Arg) c.3991G>C (p.Gly1331Arg) c.3928G>C (p.Gly1310Arg) c.3772G>C (p.Gly1258Arg) c.3703G>C (p.Gly1235Arg) | |
6 | g.33164452C>T | CA363616583 | COL11A2 | n.691G>A c.4885G>A (p.Gly1629Ser) c.4564G>A (p.Gly1522Ser) c.4627G>A (p.Gly1543Ser) n.675G>A c.4039G>A (p.Gly1347Ser) c.4171G>A (p.Gly1391Ser) c.3991G>A (p.Gly1331Ser) c.3928G>A (p.Gly1310Ser) c.3772G>A (p.Gly1258Ser) c.3703G>A (p.Gly1235Ser) | dbSNP gnomAD v2 |
6 | g.33164453C>A | CA363616585 | COL11A2 | n.690G>T c.4884G>T (p.Glu1628Asp) c.4563G>T (p.Glu1521Asp) c.4626G>T (p.Glu1542Asp) n.674G>T c.4038G>T (p.Glu1346Asp) c.4170G>T (p.Glu1390Asp) c.3990G>T (p.Glu1330Asp) c.3927G>T (p.Glu1309Asp) c.3771G>T (p.Glu1257Asp) c.3702G>T (p.Glu1234Asp) | gnomAD v4 |
6 | g.33164453C= | CA1619889875 | COL11A2 | n.690G= c.4884G= (p.Glu1628=) c.4563G= (p.Glu1521=) c.4626G= (p.Glu1542=) n.674G= c.4038G= (p.Glu1346=) c.4170G= (p.Glu1390=) c.3990G= (p.Glu1330=) c.3927G= (p.Glu1309=) c.3771G= (p.Glu1257=) c.3702G= (p.Glu1234=) | |
6 | g.33164453C>G | CA182752 | COL11A2 | n.690G>C c.4884G>C (p.Glu1628Asp) c.4563G>C (p.Glu1521Asp) c.4626G>C (p.Glu1542Asp) n.674G>C c.4038G>C (p.Glu1346Asp) c.4170G>C (p.Glu1390Asp) c.3990G>C (p.Glu1330Asp) c.3927G>C (p.Glu1309Asp) c.3771G>C (p.Glu1257Asp) c.3702G>C (p.Glu1234Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164453C>T | CA449867077 | COL11A2 | n.690G>A c.4884G>A (p.Glu1628=) c.4563G>A (p.Glu1521=) c.4626G>A (p.Glu1542=) n.674G>A c.4038G>A (p.Glu1346=) c.4170G>A (p.Glu1390=) c.3990G>A (p.Glu1330=) c.3927G>A (p.Glu1309=) c.3771G>A (p.Glu1257=) c.3702G>A (p.Glu1234=) | gnomAD v4 |
6 | g.33164454T>A | CA363616588 | COL11A2 | n.689A>T c.4883A>T (p.Glu1628Val) c.4562A>T (p.Glu1521Val) c.4625A>T (p.Glu1542Val) n.673A>T c.4037A>T (p.Glu1346Val) c.4169A>T (p.Glu1390Val) c.3989A>T (p.Glu1330Val) c.3926A>T (p.Glu1309Val) c.3770A>T (p.Glu1257Val) c.3701A>T (p.Glu1234Val) | |
6 | g.33164454T>C | CA363616594 | COL11A2 | n.689A>G c.4883A>G (p.Glu1628Gly) c.4562A>G (p.Glu1521Gly) c.4625A>G (p.Glu1542Gly) n.673A>G c.4037A>G (p.Glu1346Gly) c.4169A>G (p.Glu1390Gly) c.3989A>G (p.Glu1330Gly) c.3926A>G (p.Glu1309Gly) c.3770A>G (p.Glu1257Gly) c.3701A>G (p.Glu1234Gly) | |
6 | g.33164454T>G | CA363616591 | COL11A2 | n.689A>C c.4883A>C (p.Glu1628Ala) c.4562A>C (p.Glu1521Ala) c.4625A>C (p.Glu1542Ala) n.673A>C c.4037A>C (p.Glu1346Ala) c.4169A>C (p.Glu1390Ala) c.3989A>C (p.Glu1330Ala) c.3926A>C (p.Glu1309Ala) c.3770A>C (p.Glu1257Ala) c.3701A>C (p.Glu1234Ala) | |
6 | g.33164455C>A | CA363616595 | COL11A2 | n.688G>T c.4882G>T (p.Glu1628Ter) c.4561G>T (p.Glu1521Ter) c.4624G>T (p.Glu1542Ter) n.672G>T c.4036G>T (p.Glu1346Ter) c.4168G>T (p.Glu1390Ter) c.3988G>T (p.Glu1330Ter) c.3925G>T (p.Glu1309Ter) c.3769G>T (p.Glu1257Ter) c.3700G>T (p.Glu1234Ter) | gnomAD v4 |
6 | g.33164455C>G | CA363616597 | COL11A2 | n.688G>C c.4882G>C (p.Glu1628Gln) c.4561G>C (p.Glu1521Gln) c.4624G>C (p.Glu1542Gln) n.672G>C c.4036G>C (p.Glu1346Gln) c.4168G>C (p.Glu1390Gln) c.3988G>C (p.Glu1330Gln) c.3925G>C (p.Glu1309Gln) c.3769G>C (p.Glu1257Gln) c.3700G>C (p.Glu1234Gln) | |
6 | g.33164455C>T | CA363616599 | COL11A2 | n.688G>A c.4882G>A (p.Glu1628Lys) c.4561G>A (p.Glu1521Lys) c.4624G>A (p.Glu1542Lys) n.672G>A c.4036G>A (p.Glu1346Lys) c.4168G>A (p.Glu1390Lys) c.3988G>A (p.Glu1330Lys) c.3925G>A (p.Glu1309Lys) c.3769G>A (p.Glu1257Lys) c.3700G>A (p.Glu1234Lys) | gnomAD v4 COSMIC |
6 | g.33164456T>A | CA449867078 | COL11A2 | n.687A>T c.4881A>T (p.Ser1627=) c.4560A>T (p.Ser1520=) c.4623A>T (p.Ser1541=) n.671A>T c.4035A>T (p.Ser1345=) c.4167A>T (p.Ser1389=) c.3987A>T (p.Ser1329=) c.3924A>T (p.Ser1308=) c.3768A>T (p.Ser1256=) c.3699A>T (p.Ser1233=) | |
6 | g.33164456T>C | CA449867079 | COL11A2 | n.687A>G c.4881A>G (p.Ser1627=) c.4560A>G (p.Ser1520=) c.4623A>G (p.Ser1541=) n.671A>G c.4035A>G (p.Ser1345=) c.4167A>G (p.Ser1389=) c.3987A>G (p.Ser1329=) c.3924A>G (p.Ser1308=) c.3768A>G (p.Ser1256=) c.3699A>G (p.Ser1233=) | ClinVar |
6 | g.33164456T>G | CA449867080 | COL11A2 | n.687A>C c.4881A>C (p.Ser1627=) c.4560A>C (p.Ser1520=) c.4623A>C (p.Ser1541=) n.671A>C c.4035A>C (p.Ser1345=) c.4167A>C (p.Ser1389=) c.3987A>C (p.Ser1329=) c.3924A>C (p.Ser1308=) c.3768A>C (p.Ser1256=) c.3699A>C (p.Ser1233=) | |
6 | g.33164457G>A | CA3749962 | COL11A2 | n.686C>T c.4880C>T (p.Ser1627Leu) c.4559C>T (p.Ser1520Leu) c.4622C>T (p.Ser1541Leu) n.670C>T c.4034C>T (p.Ser1345Leu) c.4166C>T (p.Ser1389Leu) c.3986C>T (p.Ser1329Leu) c.3923C>T (p.Ser1308Leu) c.3767C>T (p.Ser1256Leu) c.3698C>T (p.Ser1233Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164457G>C | CA363616602 | COL11A2 | n.686C>G c.4880C>G (p.Ser1627Ter) c.4559C>G (p.Ser1520Ter) c.4622C>G (p.Ser1541Ter) n.670C>G c.4034C>G (p.Ser1345Ter) c.4166C>G (p.Ser1389Ter) c.3986C>G (p.Ser1329Ter) c.3923C>G (p.Ser1308Ter) c.3767C>G (p.Ser1256Ter) c.3698C>G (p.Ser1233Ter) | |
6 | g.33164457G= | CA1619889879 | COL11A2 | n.686C= c.4880C= (p.Ser1627=) c.4559C= (p.Ser1520=) c.4622C= (p.Ser1541=) n.670C= c.4034C= (p.Ser1345=) c.4166C= (p.Ser1389=) c.3986C= (p.Ser1329=) c.3923C= (p.Ser1308=) c.3767C= (p.Ser1256=) c.3698C= (p.Ser1233=) | |
6 | g.33164457G>T | CA363616605 | COL11A2 | n.686C>A c.4880C>A (p.Ser1627Ter) c.4559C>A (p.Ser1520Ter) c.4622C>A (p.Ser1541Ter) n.670C>A c.4034C>A (p.Ser1345Ter) c.4166C>A (p.Ser1389Ter) c.3986C>A (p.Ser1329Ter) c.3923C>A (p.Ser1308Ter) c.3767C>A (p.Ser1256Ter) c.3698C>A (p.Ser1233Ter) | gnomAD v4 |
6 | g.33164458A>C | CA363616607 | COL11A2 | n.685T>G c.4879T>G (p.Ser1627Ala) c.4558T>G (p.Ser1520Ala) c.4621T>G (p.Ser1541Ala) n.669T>G c.4033T>G (p.Ser1345Ala) c.4165T>G (p.Ser1389Ala) c.3985T>G (p.Ser1329Ala) c.3922T>G (p.Ser1308Ala) c.3766T>G (p.Ser1256Ala) c.3697T>G (p.Ser1233Ala) | ClinVar dbSNP |
6 | g.33164458A>G | CA363616609 | COL11A2 | n.685T>C c.4879T>C (p.Ser1627Pro) c.4558T>C (p.Ser1520Pro) c.4621T>C (p.Ser1541Pro) n.669T>C c.4033T>C (p.Ser1345Pro) c.4165T>C (p.Ser1389Pro) c.3985T>C (p.Ser1329Pro) c.3922T>C (p.Ser1308Pro) c.3766T>C (p.Ser1256Pro) c.3697T>C (p.Ser1233Pro) | |
6 | g.33164458A>T | CA363616610 | COL11A2 | n.685T>A c.4879T>A (p.Ser1627Thr) c.4558T>A (p.Ser1520Thr) c.4621T>A (p.Ser1541Thr) n.669T>A c.4033T>A (p.Ser1345Thr) c.4165T>A (p.Ser1389Thr) c.3985T>A (p.Ser1329Thr) c.3922T>A (p.Ser1308Thr) c.3766T>A (p.Ser1256Thr) c.3697T>A (p.Ser1233Thr) | |
6 | g.33164459G>A | CA449867081 | COL11A2 | n.684C>T c.4878C>T (p.Asp1626=) c.4557C>T (p.Asp1519=) c.4620C>T (p.Asp1540=) n.668C>T c.4032C>T (p.Asp1344=) c.4164C>T (p.Asp1388=) c.3984C>T (p.Asp1328=) c.3921C>T (p.Asp1307=) c.3765C>T (p.Asp1255=) c.3696C>T (p.Asp1232=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164459G>C | CA363616613 | COL11A2 | n.684C>G c.4878C>G (p.Asp1626Glu) c.4557C>G (p.Asp1519Glu) c.4620C>G (p.Asp1540Glu) n.668C>G c.4032C>G (p.Asp1344Glu) c.4164C>G (p.Asp1388Glu) c.3984C>G (p.Asp1328Glu) c.3921C>G (p.Asp1307Glu) c.3765C>G (p.Asp1255Glu) c.3696C>G (p.Asp1232Glu) | |
6 | g.33164459G= | CA1619889882 | COL11A2 | n.684C= c.4878C= (p.Asp1626=) c.4557C= (p.Asp1519=) c.4620C= (p.Asp1540=) n.668C= c.4032C= (p.Asp1344=) c.4164C= (p.Asp1388=) c.3984C= (p.Asp1328=) c.3921C= (p.Asp1307=) c.3765C= (p.Asp1255=) c.3696C= (p.Asp1232=) | |
6 | g.33164459G>T | CA363616615 | COL11A2 | n.684C>A c.4878C>A (p.Asp1626Glu) c.4557C>A (p.Asp1519Glu) c.4620C>A (p.Asp1540Glu) n.668C>A c.4032C>A (p.Asp1344Glu) c.4164C>A (p.Asp1388Glu) c.3984C>A (p.Asp1328Glu) c.3921C>A (p.Asp1307Glu) c.3765C>A (p.Asp1255Glu) c.3696C>A (p.Asp1232Glu) | COSMIC |
6 | g.33164461_33164466del | CA2578581070 | COL11A2 | n.679_684del c.4873_4878del (p.Val1625_Asp1626del) c.4552_4557del (p.Val1518_Asp1519del) c.4615_4620del (p.Val1539_Asp1540del) n.663_668del c.4027_4032del (p.Val1343_Asp1344del) c.4159_4164del (p.Val1387_Asp1388del) c.3979_3984del (p.Val1327_Asp1328del) c.3916_3921del (p.Val1306_Asp1307del) c.3760_3765del (p.Val1254_Asp1255del) c.3691_3696del (p.Val1231_Asp1232del) | |
6 | g.33164460T>A | CA363616620 | COL11A2 | n.683A>T c.4877A>T (p.Asp1626Val) c.4556A>T (p.Asp1519Val) c.4619A>T (p.Asp1540Val) n.667A>T c.4031A>T (p.Asp1344Val) c.4163A>T (p.Asp1388Val) c.3983A>T (p.Asp1328Val) c.3920A>T (p.Asp1307Val) c.3764A>T (p.Asp1255Val) c.3695A>T (p.Asp1232Val) | |
6 | g.33164460T>C | CA363616622 | COL11A2 | n.683A>G c.4877A>G (p.Asp1626Gly) c.4556A>G (p.Asp1519Gly) c.4619A>G (p.Asp1540Gly) n.667A>G c.4031A>G (p.Asp1344Gly) c.4163A>G (p.Asp1388Gly) c.3983A>G (p.Asp1328Gly) c.3920A>G (p.Asp1307Gly) c.3764A>G (p.Asp1255Gly) c.3695A>G (p.Asp1232Gly) | gnomAD v4 |
6 | g.33164460T>G | CA363616618 | COL11A2 | n.683A>C c.4877A>C (p.Asp1626Ala) c.4556A>C (p.Asp1519Ala) c.4619A>C (p.Asp1540Ala) n.667A>C c.4031A>C (p.Asp1344Ala) c.4163A>C (p.Asp1388Ala) c.3983A>C (p.Asp1328Ala) c.3920A>C (p.Asp1307Ala) c.3764A>C (p.Asp1255Ala) c.3695A>C (p.Asp1232Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164460T= | CA1619889889 | COL11A2 | n.683A= c.4877A= (p.Asp1626=) c.4556A= (p.Asp1519=) c.4619A= (p.Asp1540=) n.667A= c.4031A= (p.Asp1344=) c.4163A= (p.Asp1388=) c.3983A= (p.Asp1328=) c.3920A= (p.Asp1307=) c.3764A= (p.Asp1255=) c.3695A= (p.Asp1232=) | |
6 | g.33164461C>A | CA363616624 | COL11A2 | n.682G>T c.4876G>T (p.Asp1626Tyr) c.4555G>T (p.Asp1519Tyr) c.4618G>T (p.Asp1540Tyr) n.666G>T c.4030G>T (p.Asp1344Tyr) c.4162G>T (p.Asp1388Tyr) c.3982G>T (p.Asp1328Tyr) c.3919G>T (p.Asp1307Tyr) c.3763G>T (p.Asp1255Tyr) c.3694G>T (p.Asp1232Tyr) | gnomAD v4 |
6 | g.33164461C>G | CA363616629 | COL11A2 | n.682G>C c.4876G>C (p.Asp1626His) c.4555G>C (p.Asp1519His) c.4618G>C (p.Asp1540His) n.666G>C c.4030G>C (p.Asp1344His) c.4162G>C (p.Asp1388His) c.3982G>C (p.Asp1328His) c.3919G>C (p.Asp1307His) c.3763G>C (p.Asp1255His) c.3694G>C (p.Asp1232His) | gnomAD v4 |
6 | g.33164461C>T | CA363616627 | COL11A2 | n.682G>A c.4876G>A (p.Asp1626Asn) c.4555G>A (p.Asp1519Asn) c.4618G>A (p.Asp1540Asn) n.666G>A c.4030G>A (p.Asp1344Asn) c.4162G>A (p.Asp1388Asn) c.3982G>A (p.Asp1328Asn) c.3919G>A (p.Asp1307Asn) c.3763G>A (p.Asp1255Asn) c.3694G>A (p.Asp1232Asn) | |
6 | g.33164462C>A | CA449867082 | COL11A2 | n.681G>T c.4875G>T (p.Val1625=) c.4554G>T (p.Val1518=) c.4617G>T (p.Val1539=) n.665G>T c.4029G>T (p.Val1343=) c.4161G>T (p.Val1387=) c.3981G>T (p.Val1327=) c.3918G>T (p.Val1306=) c.3762G>T (p.Val1254=) c.3693G>T (p.Val1231=) | gnomAD v4 |
6 | g.33164462C>G | CA449867083 | COL11A2 | n.681G>C c.4875G>C (p.Val1625=) c.4554G>C (p.Val1518=) c.4617G>C (p.Val1539=) n.665G>C c.4029G>C (p.Val1343=) c.4161G>C (p.Val1387=) c.3981G>C (p.Val1327=) c.3918G>C (p.Val1306=) c.3762G>C (p.Val1254=) c.3693G>C (p.Val1231=) | |
6 | g.33164462C>T | CA449867084 | COL11A2 | n.681G>A c.4875G>A (p.Val1625=) c.4554G>A (p.Val1518=) c.4617G>A (p.Val1539=) n.665G>A c.4029G>A (p.Val1343=) c.4161G>A (p.Val1387=) c.3981G>A (p.Val1327=) c.3918G>A (p.Val1306=) c.3762G>A (p.Val1254=) c.3693G>A (p.Val1231=) | gnomAD v4 |
6 | g.33164463A>C | CA363616632 | COL11A2 | n.680T>G c.4874T>G (p.Val1625Gly) c.4553T>G (p.Val1518Gly) c.4616T>G (p.Val1539Gly) n.664T>G c.4028T>G (p.Val1343Gly) c.4160T>G (p.Val1387Gly) c.3980T>G (p.Val1327Gly) c.3917T>G (p.Val1306Gly) c.3761T>G (p.Val1254Gly) c.3692T>G (p.Val1231Gly) | |
6 | g.33164463A>G | CA363616637 | COL11A2 | n.680T>C c.4874T>C (p.Val1625Ala) c.4553T>C (p.Val1518Ala) c.4616T>C (p.Val1539Ala) n.664T>C c.4028T>C (p.Val1343Ala) c.4160T>C (p.Val1387Ala) c.3980T>C (p.Val1327Ala) c.3917T>C (p.Val1306Ala) c.3761T>C (p.Val1254Ala) c.3692T>C (p.Val1231Ala) | gnomAD v4 |
6 | g.33164463A>T | CA363616634 | COL11A2 | n.680T>A c.4874T>A (p.Val1625Glu) c.4553T>A (p.Val1518Glu) c.4616T>A (p.Val1539Glu) n.664T>A c.4028T>A (p.Val1343Glu) c.4160T>A (p.Val1387Glu) c.3980T>A (p.Val1327Glu) c.3917T>A (p.Val1306Glu) c.3761T>A (p.Val1254Glu) c.3692T>A (p.Val1231Glu) | gnomAD v4 |
6 | g.33164464C>A | CA363616639 | COL11A2 | n.679G>T c.4873G>T (p.Val1625Leu) c.4552G>T (p.Val1518Leu) c.4615G>T (p.Val1539Leu) n.663G>T c.4027G>T (p.Val1343Leu) c.4159G>T (p.Val1387Leu) c.3979G>T (p.Val1327Leu) c.3916G>T (p.Val1306Leu) c.3760G>T (p.Val1254Leu) c.3691G>T (p.Val1231Leu) | gnomAD v4 |
6 | g.33164464C= | CA1619889894 | COL11A2 | n.679G= c.4873G= (p.Val1625=) c.4552G= (p.Val1518=) c.4615G= (p.Val1539=) n.663G= c.4027G= (p.Val1343=) c.4159G= (p.Val1387=) c.3979G= (p.Val1327=) c.3916G= (p.Val1306=) c.3760G= (p.Val1254=) c.3691G= (p.Val1231=) | |
6 | g.33164464C>G | CA363616642 | COL11A2 | n.679G>C c.4873G>C (p.Val1625Leu) c.4552G>C (p.Val1518Leu) c.4615G>C (p.Val1539Leu) n.663G>C c.4027G>C (p.Val1343Leu) c.4159G>C (p.Val1387Leu) c.3979G>C (p.Val1327Leu) c.3916G>C (p.Val1306Leu) c.3760G>C (p.Val1254Leu) c.3691G>C (p.Val1231Leu) | ClinVar |
6 | g.33164464C>T | CA3749963 | COL11A2 | n.679G>A c.4873G>A (p.Val1625Met) c.4552G>A (p.Val1518Met) c.4615G>A (p.Val1539Met) n.663G>A c.4027G>A (p.Val1343Met) c.4159G>A (p.Val1387Met) c.3979G>A (p.Val1327Met) c.3916G>A (p.Val1306Met) c.3760G>A (p.Val1254Met) c.3691G>A (p.Val1231Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164465G>A | CA3749964 | COL11A2 | n.678C>T c.4872C>T (p.Tyr1624=) c.4551C>T (p.Tyr1517=) c.4614C>T (p.Tyr1538=) n.662C>T c.4026C>T (p.Tyr1342=) c.4158C>T (p.Tyr1386=) c.3978C>T (p.Tyr1326=) c.3915C>T (p.Tyr1305=) c.3759C>T (p.Tyr1253=) c.3690C>T (p.Tyr1230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164465G>C | CA363616647 | COL11A2 | n.678C>G c.4872C>G (p.Tyr1624Ter) c.4551C>G (p.Tyr1517Ter) c.4614C>G (p.Tyr1538Ter) n.662C>G c.4026C>G (p.Tyr1342Ter) c.4158C>G (p.Tyr1386Ter) c.3978C>G (p.Tyr1326Ter) c.3915C>G (p.Tyr1305Ter) c.3759C>G (p.Tyr1253Ter) c.3690C>G (p.Tyr1230Ter) | |
6 | g.33164465G= | CA1619889901 | COL11A2 | n.678C= c.4872C= (p.Tyr1624=) c.4551C= (p.Tyr1517=) c.4614C= (p.Tyr1538=) n.662C= c.4026C= (p.Tyr1342=) c.4158C= (p.Tyr1386=) c.3978C= (p.Tyr1326=) c.3915C= (p.Tyr1305=) c.3759C= (p.Tyr1253=) c.3690C= (p.Tyr1230=) | |
6 | g.33164465G>T | CA363616650 | COL11A2 | n.678C>A c.4872C>A (p.Tyr1624Ter) c.4551C>A (p.Tyr1517Ter) c.4614C>A (p.Tyr1538Ter) n.662C>A c.4026C>A (p.Tyr1342Ter) c.4158C>A (p.Tyr1386Ter) c.3978C>A (p.Tyr1326Ter) c.3915C>A (p.Tyr1305Ter) c.3759C>A (p.Tyr1253Ter) c.3690C>A (p.Tyr1230Ter) | |
6 | g.33164466T>A | CA363616652 | COL11A2 | n.677A>T c.4871A>T (p.Tyr1624Phe) c.4550A>T (p.Tyr1517Phe) c.4613A>T (p.Tyr1538Phe) n.661A>T c.4025A>T (p.Tyr1342Phe) c.4157A>T (p.Tyr1386Phe) c.3977A>T (p.Tyr1326Phe) c.3914A>T (p.Tyr1305Phe) c.3758A>T (p.Tyr1253Phe) c.3689A>T (p.Tyr1230Phe) | COSMIC |
6 | g.33164466T>C | CA363616654 | COL11A2 | n.677A>G c.4871A>G (p.Tyr1624Cys) c.4550A>G (p.Tyr1517Cys) c.4613A>G (p.Tyr1538Cys) n.661A>G c.4025A>G (p.Tyr1342Cys) c.4157A>G (p.Tyr1386Cys) c.3977A>G (p.Tyr1326Cys) c.3914A>G (p.Tyr1305Cys) c.3758A>G (p.Tyr1253Cys) c.3689A>G (p.Tyr1230Cys) | |
6 | g.33164466T>G | CA363616656 | COL11A2 | n.677A>C c.4871A>C (p.Tyr1624Ser) c.4550A>C (p.Tyr1517Ser) c.4613A>C (p.Tyr1538Ser) n.661A>C c.4025A>C (p.Tyr1342Ser) c.4157A>C (p.Tyr1386Ser) c.3977A>C (p.Tyr1326Ser) c.3914A>C (p.Tyr1305Ser) c.3758A>C (p.Tyr1253Ser) c.3689A>C (p.Tyr1230Ser) | |
6 | g.33164467A>C | CA363616664 | COL11A2 | n.676T>G c.4870T>G (p.Tyr1624Asp) c.4549T>G (p.Tyr1517Asp) c.4612T>G (p.Tyr1538Asp) n.660T>G c.4024T>G (p.Tyr1342Asp) c.4156T>G (p.Tyr1386Asp) c.3976T>G (p.Tyr1326Asp) c.3913T>G (p.Tyr1305Asp) c.3757T>G (p.Tyr1253Asp) c.3688T>G (p.Tyr1230Asp) | |
6 | g.33164467A>G | CA363616661 | COL11A2 | n.676T>C c.4870T>C (p.Tyr1624His) c.4549T>C (p.Tyr1517His) c.4612T>C (p.Tyr1538His) n.660T>C c.4024T>C (p.Tyr1342His) c.4156T>C (p.Tyr1386His) c.3976T>C (p.Tyr1326His) c.3913T>C (p.Tyr1305His) c.3757T>C (p.Tyr1253His) c.3688T>C (p.Tyr1230His) | gnomAD v4 |
6 | g.33164467A>T | CA363616660 | COL11A2 | n.676T>A c.4870T>A (p.Tyr1624Asn) c.4549T>A (p.Tyr1517Asn) c.4612T>A (p.Tyr1538Asn) n.660T>A c.4024T>A (p.Tyr1342Asn) c.4156T>A (p.Tyr1386Asn) c.3976T>A (p.Tyr1326Asn) c.3913T>A (p.Tyr1305Asn) c.3757T>A (p.Tyr1253Asn) c.3688T>A (p.Tyr1230Asn) | |
6 | g.33164468A= | CA1619889903 | COL11A2 | n.675T= c.4869T= (p.Ser1623=) c.4548T= (p.Ser1516=) c.4611T= (p.Ser1537=) n.659T= c.4023T= (p.Ser1341=) c.4155T= (p.Ser1385=) c.3975T= (p.Ser1325=) c.3912T= (p.Ser1304=) c.3756T= (p.Ser1252=) c.3687T= (p.Ser1229=) | |
6 | g.33164468A>C | CA449867085 | COL11A2 | n.675T>G c.4869T>G (p.Ser1623=) c.4548T>G (p.Ser1516=) c.4611T>G (p.Ser1537=) n.659T>G c.4023T>G (p.Ser1341=) c.4155T>G (p.Ser1385=) c.3975T>G (p.Ser1325=) c.3912T>G (p.Ser1304=) c.3756T>G (p.Ser1252=) c.3687T>G (p.Ser1229=) | |
6 | g.33164468A>G | CA449867086 | COL11A2 | n.675T>C c.4869T>C (p.Ser1623=) c.4548T>C (p.Ser1516=) c.4611T>C (p.Ser1537=) n.659T>C c.4023T>C (p.Ser1341=) c.4155T>C (p.Ser1385=) c.3975T>C (p.Ser1325=) c.3912T>C (p.Ser1304=) c.3756T>C (p.Ser1252=) c.3687T>C (p.Ser1229=) | ClinVar dbSNP gnomAD v4 |
6 | g.33164468A>T | CA449867087 | COL11A2 | n.675T>A c.4869T>A (p.Ser1623=) c.4548T>A (p.Ser1516=) c.4611T>A (p.Ser1537=) n.659T>A c.4023T>A (p.Ser1341=) c.4155T>A (p.Ser1385=) c.3975T>A (p.Ser1325=) c.3912T>A (p.Ser1304=) c.3756T>A (p.Ser1252=) c.3687T>A (p.Ser1229=) | |
6 | g.33164469G>A | CA363616667 | COL11A2 | n.674C>T c.4868C>T (p.Ser1623Phe) c.4547C>T (p.Ser1516Phe) c.4610C>T (p.Ser1537Phe) n.658C>T c.4022C>T (p.Ser1341Phe) c.4154C>T (p.Ser1385Phe) c.3974C>T (p.Ser1325Phe) c.3911C>T (p.Ser1304Phe) c.3755C>T (p.Ser1252Phe) c.3686C>T (p.Ser1229Phe) | |
6 | g.33164469G>C | CA363616669 | COL11A2 | n.674C>G c.4868C>G (p.Ser1623Cys) c.4547C>G (p.Ser1516Cys) c.4610C>G (p.Ser1537Cys) n.658C>G c.4022C>G (p.Ser1341Cys) c.4154C>G (p.Ser1385Cys) c.3974C>G (p.Ser1325Cys) c.3911C>G (p.Ser1304Cys) c.3755C>G (p.Ser1252Cys) c.3686C>G (p.Ser1229Cys) | dbSNP |
6 | g.33164469G>T | CA363616671 | COL11A2 | n.674C>A c.4868C>A (p.Ser1623Tyr) c.4547C>A (p.Ser1516Tyr) c.4610C>A (p.Ser1537Tyr) n.658C>A c.4022C>A (p.Ser1341Tyr) c.4154C>A (p.Ser1385Tyr) c.3974C>A (p.Ser1325Tyr) c.3911C>A (p.Ser1304Tyr) c.3755C>A (p.Ser1252Tyr) c.3686C>A (p.Ser1229Tyr) | gnomAD v4 |
6 | g.33164470A>C | CA363616673 | COL11A2 | n.673T>G c.4867T>G (p.Ser1623Ala) c.4546T>G (p.Ser1516Ala) c.4609T>G (p.Ser1537Ala) n.657T>G c.4021T>G (p.Ser1341Ala) c.4153T>G (p.Ser1385Ala) c.3973T>G (p.Ser1325Ala) c.3910T>G (p.Ser1304Ala) c.3754T>G (p.Ser1252Ala) c.3685T>G (p.Ser1229Ala) | |
6 | g.33164470A>G | CA363616676 | COL11A2 | n.673T>C c.4867T>C (p.Ser1623Pro) c.4546T>C (p.Ser1516Pro) c.4609T>C (p.Ser1537Pro) n.657T>C c.4021T>C (p.Ser1341Pro) c.4153T>C (p.Ser1385Pro) c.3973T>C (p.Ser1325Pro) c.3910T>C (p.Ser1304Pro) c.3754T>C (p.Ser1252Pro) c.3685T>C (p.Ser1229Pro) | gnomAD v4 |
6 | g.33164470A>T | CA363616679 | COL11A2 | n.673T>A c.4867T>A (p.Ser1623Thr) c.4546T>A (p.Ser1516Thr) c.4609T>A (p.Ser1537Thr) n.657T>A c.4021T>A (p.Ser1341Thr) c.4153T>A (p.Ser1385Thr) c.3973T>A (p.Ser1325Thr) c.3910T>A (p.Ser1304Thr) c.3754T>A (p.Ser1252Thr) c.3685T>A (p.Ser1229Thr) | |
6 | g.33164471G>A | CA449867088 | COL11A2 | n.672C>T c.4866C>T (p.Phe1622=) c.4545C>T (p.Phe1515=) c.4608C>T (p.Phe1536=) n.656C>T c.4020C>T (p.Phe1340=) c.4152C>T (p.Phe1384=) c.3972C>T (p.Phe1324=) c.3909C>T (p.Phe1303=) c.3753C>T (p.Phe1251=) c.3684C>T (p.Phe1228=) | |
6 | g.33164471G>C | CA363616682 | COL11A2 | n.672C>G c.4866C>G (p.Phe1622Leu) c.4545C>G (p.Phe1515Leu) c.4608C>G (p.Phe1536Leu) n.656C>G c.4020C>G (p.Phe1340Leu) c.4152C>G (p.Phe1384Leu) c.3972C>G (p.Phe1324Leu) c.3909C>G (p.Phe1303Leu) c.3753C>G (p.Phe1251Leu) c.3684C>G (p.Phe1228Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164471G= | CA1619889907 | COL11A2 | n.672C= c.4866C= (p.Phe1622=) c.4545C= (p.Phe1515=) c.4608C= (p.Phe1536=) n.656C= c.4020C= (p.Phe1340=) c.4152C= (p.Phe1384=) c.3972C= (p.Phe1324=) c.3909C= (p.Phe1303=) c.3753C= (p.Phe1251=) c.3684C= (p.Phe1228=) | |
6 | g.33164471G>T | CA363616684 | COL11A2 | n.672C>A c.4866C>A (p.Phe1622Leu) c.4545C>A (p.Phe1515Leu) c.4608C>A (p.Phe1536Leu) n.656C>A c.4020C>A (p.Phe1340Leu) c.4152C>A (p.Phe1384Leu) c.3972C>A (p.Phe1324Leu) c.3909C>A (p.Phe1303Leu) c.3753C>A (p.Phe1251Leu) c.3684C>A (p.Phe1228Leu) | COSMIC |
6 | g.33164472A>C | CA363616686 | COL11A2 | n.671T>G c.4865T>G (p.Phe1622Cys) c.4544T>G (p.Phe1515Cys) c.4607T>G (p.Phe1536Cys) n.655T>G c.4019T>G (p.Phe1340Cys) c.4151T>G (p.Phe1384Cys) c.3971T>G (p.Phe1324Cys) c.3908T>G (p.Phe1303Cys) c.3752T>G (p.Phe1251Cys) c.3683T>G (p.Phe1228Cys) | |
6 | g.33164472A>G | CA363616689 | COL11A2 | n.671T>C c.4865T>C (p.Phe1622Ser) c.4544T>C (p.Phe1515Ser) c.4607T>C (p.Phe1536Ser) n.655T>C c.4019T>C (p.Phe1340Ser) c.4151T>C (p.Phe1384Ser) c.3971T>C (p.Phe1324Ser) c.3908T>C (p.Phe1303Ser) c.3752T>C (p.Phe1251Ser) c.3683T>C (p.Phe1228Ser) | COSMIC |
6 | g.33164472A>T | CA363616691 | COL11A2 | n.671T>A c.4865T>A (p.Phe1622Tyr) c.4544T>A (p.Phe1515Tyr) c.4607T>A (p.Phe1536Tyr) n.655T>A c.4019T>A (p.Phe1340Tyr) c.4151T>A (p.Phe1384Tyr) c.3971T>A (p.Phe1324Tyr) c.3908T>A (p.Phe1303Tyr) c.3752T>A (p.Phe1251Tyr) c.3683T>A (p.Phe1228Tyr) | |
6 | g.33164473A>C | CA363616697 | COL11A2 | n.670T>G c.4864T>G (p.Phe1622Val) c.4543T>G (p.Phe1515Val) c.4606T>G (p.Phe1536Val) n.654T>G c.4018T>G (p.Phe1340Val) c.4150T>G (p.Phe1384Val) c.3970T>G (p.Phe1324Val) c.3907T>G (p.Phe1303Val) c.3751T>G (p.Phe1251Val) c.3682T>G (p.Phe1228Val) | |
6 | g.33164473A>G | CA363616698 | COL11A2 | n.670T>C c.4864T>C (p.Phe1622Leu) c.4543T>C (p.Phe1515Leu) c.4606T>C (p.Phe1536Leu) n.654T>C c.4018T>C (p.Phe1340Leu) c.4150T>C (p.Phe1384Leu) c.3970T>C (p.Phe1324Leu) c.3907T>C (p.Phe1303Leu) c.3751T>C (p.Phe1251Leu) c.3682T>C (p.Phe1228Leu) | |
6 | g.33164473A>T | CA363616694 | COL11A2 | n.670T>A c.4864T>A (p.Phe1622Ile) c.4543T>A (p.Phe1515Ile) c.4606T>A (p.Phe1536Ile) n.654T>A c.4018T>A (p.Phe1340Ile) c.4150T>A (p.Phe1384Ile) c.3970T>A (p.Phe1324Ile) c.3907T>A (p.Phe1303Ile) c.3751T>A (p.Phe1251Ile) c.3682T>A (p.Phe1228Ile) | |
6 | g.33164474C>A | CA363616700 | COL11A2 | n.670-1G>T c.4864-1G>T (n.4864-1G>T) c.4543-1G>T (n.4543-1G>T) c.4606-1G>T (n.4606-1G>T) n.654-1G>T c.4018-1G>T (n.4018-1G>T) c.4150-1G>T (n.4150-1G>T) c.3970-1G>T (n.3970-1G>T) c.3907-1G>T (n.3907-1G>T) c.3751-1G>T (n.3751-1G>T) c.3682-1G>T (n.3682-1G>T) | gnomAD v4 |
6 | g.33164474C>G | CA363616702 | COL11A2 | n.670-1G>C c.4864-1G>C (n.4864-1G>C) c.4543-1G>C (n.4543-1G>C) c.4606-1G>C (n.4606-1G>C) n.654-1G>C c.4018-1G>C (n.4018-1G>C) c.4150-1G>C (n.4150-1G>C) c.3970-1G>C (n.3970-1G>C) c.3907-1G>C (n.3907-1G>C) c.3751-1G>C (n.3751-1G>C) c.3682-1G>C (n.3682-1G>C) | ClinVar |
6 | g.33164474C>T | CA363616704 | COL11A2 | n.670-1G>A c.4864-1G>A (n.4864-1G>A) c.4543-1G>A (n.4543-1G>A) c.4606-1G>A (n.4606-1G>A) n.654-1G>A c.4018-1G>A (n.4018-1G>A) c.4150-1G>A (n.4150-1G>A) c.3970-1G>A (n.3970-1G>A) c.3907-1G>A (n.3907-1G>A) c.3751-1G>A (n.3751-1G>A) c.3682-1G>A (n.3682-1G>A) | |
6 | g.33164475T>A | CA363616707 | COL11A2 | n.670-2A>T c.4864-2A>T (n.4864-2A>T) c.4543-2A>T (n.4543-2A>T) c.4606-2A>T (n.4606-2A>T) n.654-2A>T c.4018-2A>T (n.4018-2A>T) c.4150-2A>T (n.4150-2A>T) c.3970-2A>T (n.3970-2A>T) c.3907-2A>T (n.3907-2A>T) c.3751-2A>T (n.3751-2A>T) c.3682-2A>T (n.3682-2A>T) | |
6 | g.33164475T>C | CA363616716 | COL11A2 | n.670-2A>G c.4864-2A>G (n.4864-2A>G) c.4543-2A>G (n.4543-2A>G) c.4606-2A>G (n.4606-2A>G) n.654-2A>G c.4018-2A>G (n.4018-2A>G) c.4150-2A>G (n.4150-2A>G) c.3970-2A>G (n.3970-2A>G) c.3907-2A>G (n.3907-2A>G) c.3751-2A>G (n.3751-2A>G) c.3682-2A>G (n.3682-2A>G) | |
6 | g.33164475T>G | CA363616719 | COL11A2 | n.670-2A>C c.4864-2A>C (n.4864-2A>C) c.4543-2A>C (n.4543-2A>C) c.4606-2A>C (n.4606-2A>C) n.654-2A>C c.4018-2A>C (n.4018-2A>C) c.4150-2A>C (n.4150-2A>C) c.3970-2A>C (n.3970-2A>C) c.3907-2A>C (n.3907-2A>C) c.3751-2A>C (n.3751-2A>C) c.3682-2A>C (n.3682-2A>C) | |
6 | g.33164476G>A | CA2499981840 | COL11A2 | n.670-3C>T c.4864-3C>T (n.4864-3C>T) c.4543-3C>T (n.4543-3C>T) c.4606-3C>T (n.4606-3C>T) n.654-3C>T c.4018-3C>T (n.4018-3C>T) c.4150-3C>T (n.4150-3C>T) c.3970-3C>T (n.3970-3C>T) c.3907-3C>T (n.3907-3C>T) c.3751-3C>T (n.3751-3C>T) c.3682-3C>T (n.3682-3C>T) | gnomAD v4 |
6 | g.33164477G>A | CA2504784716 | COL11A2 | n.670-4C>T c.4864-4C>T (n.4864-4C>T) c.4543-4C>T (n.4543-4C>T) c.4606-4C>T (n.4606-4C>T) n.654-4C>T c.4018-4C>T (n.4018-4C>T) c.4150-4C>T (n.4150-4C>T) c.3970-4C>T (n.3970-4C>T) c.3907-4C>T (n.3907-4C>T) c.3751-4C>T (n.3751-4C>T) c.3682-4C>T (n.3682-4C>T) | |
6 | g.33164477G= | CA1619889912 | COL11A2 | n.670-4C= c.4864-4C= (n.4864-4C=) c.4543-4C= (n.4543-4C=) c.4606-4C= (n.4606-4C=) n.654-4C= c.4018-4C= (n.4018-4C=) c.4150-4C= (n.4150-4C=) c.3970-4C= (n.3970-4C=) c.3907-4C= (n.3907-4C=) c.3751-4C= (n.3751-4C=) c.3682-4C= (n.3682-4C=) | |
6 | g.33164477G>T | CA3749965 | COL11A2 | n.670-4C>A c.4864-4C>A (n.4864-4C>A) c.4543-4C>A (n.4543-4C>A) c.4606-4C>A (n.4606-4C>A) n.654-4C>A c.4018-4C>A (n.4018-4C>A) c.4150-4C>A (n.4150-4C>A) c.3970-4C>A (n.3970-4C>A) c.3907-4C>A (n.3907-4C>A) c.3751-4C>A (n.3751-4C>A) c.3682-4C>A (n.3682-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164478A>C | CA2739273021 | COL11A2 | n.670-5T>G c.4864-5T>G (n.4864-5T>G) c.4543-5T>G (n.4543-5T>G) c.4606-5T>G (n.4606-5T>G) n.654-5T>G c.4018-5T>G (n.4018-5T>G) c.4150-5T>G (n.4150-5T>G) c.3970-5T>G (n.3970-5T>G) c.3907-5T>G (n.3907-5T>G) c.3751-5T>G (n.3751-5T>G) c.3682-5T>G (n.3682-5T>G) | ClinVar |
6 | g.33164478A>G | CA2678226375 | COL11A2 | n.670-5T>C c.4864-5T>C (n.4864-5T>C) c.4543-5T>C (n.4543-5T>C) c.4606-5T>C (n.4606-5T>C) n.654-5T>C c.4018-5T>C (n.4018-5T>C) c.4150-5T>C (n.4150-5T>C) c.3970-5T>C (n.3970-5T>C) c.3907-5T>C (n.3907-5T>C) c.3751-5T>C (n.3751-5T>C) c.3682-5T>C (n.3682-5T>C) | gnomAD v4 |
6 | g.33164479A>G | CA2678226376 | COL11A2 | n.670-6T>C c.4864-6T>C (n.4864-6T>C) c.4543-6T>C (n.4543-6T>C) c.4606-6T>C (n.4606-6T>C) n.654-6T>C c.4018-6T>C (n.4018-6T>C) c.4150-6T>C (n.4150-6T>C) c.3970-6T>C (n.3970-6T>C) c.3907-6T>C (n.3907-6T>C) c.3751-6T>C (n.3751-6T>C) c.3682-6T>C (n.3682-6T>C) | gnomAD v4 |
6 | g.33164479_33164505delinsAGGAGAGAGAGGGCTGGCCTCAGAGGG | CA1619889914 | COL11A2 | n.670-32_670-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT c.4864-32_4864-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4864-32_4864-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.4543-32_4543-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4543-32_4543-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.4606-32_4606-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4606-32_4606-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) n.654-32_654-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT c.4018-32_4018-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4018-32_4018-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.4150-32_4150-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4150-32_4150-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3970-32_3970-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3970-32_3970-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3907-32_3907-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3907-32_3907-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3751-32_3751-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3751-32_3751-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3682-32_3682-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3682-32_3682-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) | |
6 | g.33164480G>A | CA1619889922 | COL11A2 | n.670-7C>T c.4864-7C>T (n.4864-7C>T) c.4543-7C>T (n.4543-7C>T) c.4606-7C>T (n.4606-7C>T) n.654-7C>T c.4018-7C>T (n.4018-7C>T) c.4150-7C>T (n.4150-7C>T) c.3970-7C>T (n.3970-7C>T) c.3907-7C>T (n.3907-7C>T) c.3751-7C>T (n.3751-7C>T) c.3682-7C>T (n.3682-7C>T) | dbSNP gnomAD v4 |
6 | g.33164480G= | CA1619889923 | COL11A2 | n.670-7C= c.4864-7C= (n.4864-7C=) c.4543-7C= (n.4543-7C=) c.4606-7C= (n.4606-7C=) n.654-7C= c.4018-7C= (n.4018-7C=) c.4150-7C= (n.4150-7C=) c.3970-7C= (n.3970-7C=) c.3907-7C= (n.3907-7C=) c.3751-7C= (n.3751-7C=) c.3682-7C= (n.3682-7C=) | |
6 | g.33164480_33164484delinsGGAGA | CA1619889924 | COL11A2 | n.670-11_670-7delinsTCTCC c.4864-11_4864-7delinsTCTCC (n.4864-11_4864-7delinsTCTCC) c.4543-11_4543-7delinsTCTCC (n.4543-11_4543-7delinsTCTCC) c.4606-11_4606-7delinsTCTCC (n.4606-11_4606-7delinsTCTCC) n.654-11_654-7delinsTCTCC c.4018-11_4018-7delinsTCTCC (n.4018-11_4018-7delinsTCTCC) c.4150-11_4150-7delinsTCTCC (n.4150-11_4150-7delinsTCTCC) c.3970-11_3970-7delinsTCTCC (n.3970-11_3970-7delinsTCTCC) c.3907-11_3907-7delinsTCTCC (n.3907-11_3907-7delinsTCTCC) c.3751-11_3751-7delinsTCTCC (n.3751-11_3751-7delinsTCTCC) c.3682-11_3682-7delinsTCTCC (n.3682-11_3682-7delinsTCTCC) | |
6 | g.33164501_33164502insGGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAG | CA2678226379 | COL11A2 | n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) | gnomAD v4 |
6 | g.33164503_33164504insTGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAG | CA2678226378 | COL11A2 | n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) | gnomAD v4 |
6 | g.33164509_33164510insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAG | CA2678226377 | COL11A2 | n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) | gnomAD v4 |
6 | g.33164506_33164531dup | CA566698792 | COL11A2 | n.670-32_670-7dup c.4864-32_4864-7dup (n.4864-32_4864-7dup) c.4543-32_4543-7dup (n.4543-32_4543-7dup) c.4606-32_4606-7dup (n.4606-32_4606-7dup) n.654-32_654-7dup c.4018-32_4018-7dup (n.4018-32_4018-7dup) c.4150-32_4150-7dup (n.4150-32_4150-7dup) c.3970-32_3970-7dup (n.3970-32_3970-7dup) c.3907-32_3907-7dup (n.3907-32_3907-7dup) c.3751-32_3751-7dup (n.3751-32_3751-7dup) c.3682-32_3682-7dup (n.3682-32_3682-7dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164480_33164531dup | CA566698793 | COL11A2 | n.670-58_670-7dup c.4864-58_4864-7dup (n.4864-58_4864-7dup) c.4543-58_4543-7dup (n.4543-58_4543-7dup) c.4606-58_4606-7dup (n.4606-58_4606-7dup) n.654-58_654-7dup c.4018-58_4018-7dup (n.4018-58_4018-7dup) c.4150-58_4150-7dup (n.4150-58_4150-7dup) c.3970-58_3970-7dup (n.3970-58_3970-7dup) c.3907-58_3907-7dup (n.3907-58_3907-7dup) c.3751-58_3751-7dup (n.3751-58_3751-7dup) c.3682-58_3682-7dup (n.3682-58_3682-7dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164506_33164531del | CA3749966 | COL11A2 | n.670-32_670-7del c.4864-32_4864-7del (n.4864-32_4864-7del) c.4543-32_4543-7del (n.4543-32_4543-7del) c.4606-32_4606-7del (n.4606-32_4606-7del) n.654-32_654-7del c.4018-32_4018-7del (n.4018-32_4018-7del) c.4150-32_4150-7del (n.4150-32_4150-7del) c.3970-32_3970-7del (n.3970-32_3970-7del) c.3907-32_3907-7del (n.3907-32_3907-7del) c.3751-32_3751-7del (n.3751-32_3751-7del) c.3682-32_3682-7del (n.3682-32_3682-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164481G>A | CA824029585 | COL11A2 | n.670-8C>T c.4864-8C>T (n.4864-8C>T) c.4543-8C>T (n.4543-8C>T) c.4606-8C>T (n.4606-8C>T) n.654-8C>T c.4018-8C>T (n.4018-8C>T) c.4150-8C>T (n.4150-8C>T) c.3970-8C>T (n.3970-8C>T) c.3907-8C>T (n.3907-8C>T) c.3751-8C>T (n.3751-8C>T) c.3682-8C>T (n.3682-8C>T) | ClinVar dbSNP |
6 | g.33164481G>C | CA2578581071 | COL11A2 | n.670-8C>G c.4864-8C>G (n.4864-8C>G) c.4543-8C>G (n.4543-8C>G) c.4606-8C>G (n.4606-8C>G) n.654-8C>G c.4018-8C>G (n.4018-8C>G) c.4150-8C>G (n.4150-8C>G) c.3970-8C>G (n.3970-8C>G) c.3907-8C>G (n.3907-8C>G) c.3751-8C>G (n.3751-8C>G) c.3682-8C>G (n.3682-8C>G) | gnomAD v4 |
6 | g.33164481G= | CA1619889932 | COL11A2 | n.670-8C= c.4864-8C= (n.4864-8C=) c.4543-8C= (n.4543-8C=) c.4606-8C= (n.4606-8C=) n.654-8C= c.4018-8C= (n.4018-8C=) c.4150-8C= (n.4150-8C=) c.3970-8C= (n.3970-8C=) c.3907-8C= (n.3907-8C=) c.3751-8C= (n.3751-8C=) c.3682-8C= (n.3682-8C=) | |
6 | g.33164488_33164489del | CA2678226380 | COL11A2 | n.670-9_670-8del c.4864-9_4864-8del (n.4864-9_4864-8del) c.4543-9_4543-8del (n.4543-9_4543-8del) c.4606-9_4606-8del (n.4606-9_4606-8del) n.654-9_654-8del c.4018-9_4018-8del (n.4018-9_4018-8del) c.4150-9_4150-8del (n.4150-9_4150-8del) c.3970-9_3970-8del (n.3970-9_3970-8del) c.3907-9_3907-8del (n.3907-9_3907-8del) c.3751-9_3751-8del (n.3751-9_3751-8del) c.3682-9_3682-8del (n.3682-9_3682-8del) | ClinVar gnomAD v4 |
6 | g.33164486_33164489del | CA3749967 | COL11A2 | n.670-11_670-8del c.4864-11_4864-8del (n.4864-11_4864-8del) c.4543-11_4543-8del (n.4543-11_4543-8del) c.4606-11_4606-8del (n.4606-11_4606-8del) n.654-11_654-8del c.4018-11_4018-8del (n.4018-11_4018-8del) c.4150-11_4150-8del (n.4150-11_4150-8del) c.3970-11_3970-8del (n.3970-11_3970-8del) c.3907-11_3907-8del (n.3907-11_3907-8del) c.3751-11_3751-8del (n.3751-11_3751-8del) c.3682-11_3682-8del (n.3682-11_3682-8del) | dbSNP ExAC gnomAD v2 gnomAD v4 |