Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33164919A>C | CA363617648 | COL11A2 | n.602T>G c.4796T>G (p.Phe1599Cys) c.4475T>G (p.Phe1492Cys) c.4538T>G (p.Phe1513Cys) n.586T>G c.3950T>G (p.Phe1317Cys) c.4082T>G (p.Phe1361Cys) c.3902T>G (p.Phe1301Cys) c.3839T>G (p.Phe1280Cys) c.3683T>G (p.Phe1228Cys) c.3614T>G (p.Phe1205Cys) | |
6 | g.33164919A>G | CA363617647 | COL11A2 | n.602T>C c.4796T>C (p.Phe1599Ser) c.4475T>C (p.Phe1492Ser) c.4538T>C (p.Phe1513Ser) n.586T>C c.3950T>C (p.Phe1317Ser) c.4082T>C (p.Phe1361Ser) c.3902T>C (p.Phe1301Ser) c.3839T>C (p.Phe1280Ser) c.3683T>C (p.Phe1228Ser) c.3614T>C (p.Phe1205Ser) | |
6 | g.33164919A>T | CA363617645 | COL11A2 | n.602T>A c.4796T>A (p.Phe1599Tyr) c.4475T>A (p.Phe1492Tyr) c.4538T>A (p.Phe1513Tyr) n.586T>A c.3950T>A (p.Phe1317Tyr) c.4082T>A (p.Phe1361Tyr) c.3902T>A (p.Phe1301Tyr) c.3839T>A (p.Phe1280Tyr) c.3683T>A (p.Phe1228Tyr) c.3614T>A (p.Phe1205Tyr) | |
6 | g.33164920A>C | CA363617650 | COL11A2 | n.601T>G c.4795T>G (p.Phe1599Val) c.4474T>G (p.Phe1492Val) c.4537T>G (p.Phe1513Val) n.585T>G c.3949T>G (p.Phe1317Val) c.4081T>G (p.Phe1361Val) c.3901T>G (p.Phe1301Val) c.3838T>G (p.Phe1280Val) c.3682T>G (p.Phe1228Val) c.3613T>G (p.Phe1205Val) | |
6 | g.33164920A>G | CA363617652 | COL11A2 | n.601T>C c.4795T>C (p.Phe1599Leu) c.4474T>C (p.Phe1492Leu) c.4537T>C (p.Phe1513Leu) n.585T>C c.3949T>C (p.Phe1317Leu) c.4081T>C (p.Phe1361Leu) c.3901T>C (p.Phe1301Leu) c.3838T>C (p.Phe1280Leu) c.3682T>C (p.Phe1228Leu) c.3613T>C (p.Phe1205Leu) | gnomAD v4 |
6 | g.33164920A>T | CA363617654 | COL11A2 | n.601T>A c.4795T>A (p.Phe1599Ile) c.4474T>A (p.Phe1492Ile) c.4537T>A (p.Phe1513Ile) n.585T>A c.3949T>A (p.Phe1317Ile) c.4081T>A (p.Phe1361Ile) c.3901T>A (p.Phe1301Ile) c.3838T>A (p.Phe1280Ile) c.3682T>A (p.Phe1228Ile) c.3613T>A (p.Phe1205Ile) | gnomAD v4 |
6 | g.33164921G>A | CA449867307 | COL11A2 | n.600C>T c.4794C>T (p.Ala1598=) c.4473C>T (p.Ala1491=) c.4536C>T (p.Ala1512=) n.584C>T c.3948C>T (p.Ala1316=) c.4080C>T (p.Ala1360=) c.3900C>T (p.Ala1300=) c.3837C>T (p.Ala1279=) c.3681C>T (p.Ala1227=) c.3612C>T (p.Ala1204=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164921G>C | CA449867308 | COL11A2 | n.600C>G c.4794C>G (p.Ala1598=) c.4473C>G (p.Ala1491=) c.4536C>G (p.Ala1512=) n.584C>G c.3948C>G (p.Ala1316=) c.4080C>G (p.Ala1360=) c.3900C>G (p.Ala1300=) c.3837C>G (p.Ala1279=) c.3681C>G (p.Ala1227=) c.3612C>G (p.Ala1204=) | |
6 | g.33164921G= | CA1619890536 | COL11A2 | n.600C= c.4794C= (p.Ala1598=) c.4473C= (p.Ala1491=) c.4536C= (p.Ala1512=) n.584C= c.3948C= (p.Ala1316=) c.4080C= (p.Ala1360=) c.3900C= (p.Ala1300=) c.3837C= (p.Ala1279=) c.3681C= (p.Ala1227=) c.3612C= (p.Ala1204=) | |
6 | g.33164921G>T | CA449867309 | COL11A2 | n.600C>A c.4794C>A (p.Ala1598=) c.4473C>A (p.Ala1491=) c.4536C>A (p.Ala1512=) n.584C>A c.3948C>A (p.Ala1316=) c.4080C>A (p.Ala1360=) c.3900C>A (p.Ala1300=) c.3837C>A (p.Ala1279=) c.3681C>A (p.Ala1227=) c.3612C>A (p.Ala1204=) | gnomAD v4 |
6 | g.33164922G>A | CA363617656 | COL11A2 | n.599C>T c.4793C>T (p.Ala1598Val) c.4472C>T (p.Ala1491Val) c.4535C>T (p.Ala1512Val) n.583C>T c.3947C>T (p.Ala1316Val) c.4079C>T (p.Ala1360Val) c.3899C>T (p.Ala1300Val) c.3836C>T (p.Ala1279Val) c.3680C>T (p.Ala1227Val) c.3611C>T (p.Ala1204Val) | gnomAD v4 |
6 | g.33164922G>C | CA363617659 | COL11A2 | n.599C>G c.4793C>G (p.Ala1598Gly) c.4472C>G (p.Ala1491Gly) c.4535C>G (p.Ala1512Gly) n.583C>G c.3947C>G (p.Ala1316Gly) c.4079C>G (p.Ala1360Gly) c.3899C>G (p.Ala1300Gly) c.3836C>G (p.Ala1279Gly) c.3680C>G (p.Ala1227Gly) c.3611C>G (p.Ala1204Gly) | |
6 | g.33164922G>T | CA363617661 | COL11A2 | n.599C>A c.4793C>A (p.Ala1598Asp) c.4472C>A (p.Ala1491Asp) c.4535C>A (p.Ala1512Asp) n.583C>A c.3947C>A (p.Ala1316Asp) c.4079C>A (p.Ala1360Asp) c.3899C>A (p.Ala1300Asp) c.3836C>A (p.Ala1279Asp) c.3680C>A (p.Ala1227Asp) c.3611C>A (p.Ala1204Asp) | |
6 | g.33164923C>A | CA363617667 | COL11A2 | n.598G>T c.4792G>T (p.Ala1598Ser) c.4471G>T (p.Ala1491Ser) c.4534G>T (p.Ala1512Ser) n.582G>T c.3946G>T (p.Ala1316Ser) c.4078G>T (p.Ala1360Ser) c.3898G>T (p.Ala1300Ser) c.3835G>T (p.Ala1279Ser) c.3679G>T (p.Ala1227Ser) c.3610G>T (p.Ala1204Ser) | gnomAD v4 |
6 | g.33164923C>G | CA363617665 | COL11A2 | n.598G>C c.4792G>C (p.Ala1598Pro) c.4471G>C (p.Ala1491Pro) c.4534G>C (p.Ala1512Pro) n.582G>C c.3946G>C (p.Ala1316Pro) c.4078G>C (p.Ala1360Pro) c.3898G>C (p.Ala1300Pro) c.3835G>C (p.Ala1279Pro) c.3679G>C (p.Ala1227Pro) c.3610G>C (p.Ala1204Pro) | |
6 | g.33164923C>T | CA363617664 | COL11A2 | n.598G>A c.4792G>A (p.Ala1598Thr) c.4471G>A (p.Ala1491Thr) c.4534G>A (p.Ala1512Thr) n.582G>A c.3946G>A (p.Ala1316Thr) c.4078G>A (p.Ala1360Thr) c.3898G>A (p.Ala1300Thr) c.3835G>A (p.Ala1279Thr) c.3679G>A (p.Ala1227Thr) c.3610G>A (p.Ala1204Thr) | gnomAD v4 |
6 | g.33164924A>C | CA363617669 | COL11A2 | n.597T>G c.4791T>G (p.Asp1597Glu) c.4470T>G (p.Asp1490Glu) c.4533T>G (p.Asp1511Glu) n.581T>G c.3945T>G (p.Asp1315Glu) c.4077T>G (p.Asp1359Glu) c.3897T>G (p.Asp1299Glu) c.3834T>G (p.Asp1278Glu) c.3678T>G (p.Asp1226Glu) c.3609T>G (p.Asp1203Glu) | |
6 | g.33164924A>G | CA449867310 | COL11A2 | n.597T>C c.4791T>C (p.Asp1597=) c.4470T>C (p.Asp1490=) c.4533T>C (p.Asp1511=) n.581T>C c.3945T>C (p.Asp1315=) c.4077T>C (p.Asp1359=) c.3897T>C (p.Asp1299=) c.3834T>C (p.Asp1278=) c.3678T>C (p.Asp1226=) c.3609T>C (p.Asp1203=) | |
6 | g.33164924A>T | CA363617671 | COL11A2 | n.597T>A c.4791T>A (p.Asp1597Glu) c.4470T>A (p.Asp1490Glu) c.4533T>A (p.Asp1511Glu) n.581T>A c.3945T>A (p.Asp1315Glu) c.4077T>A (p.Asp1359Glu) c.3897T>A (p.Asp1299Glu) c.3834T>A (p.Asp1278Glu) c.3678T>A (p.Asp1226Glu) c.3609T>A (p.Asp1203Glu) | |
6 | g.33164925T>A | CA363617672 | COL11A2 | n.596A>T c.4790A>T (p.Asp1597Val) c.4469A>T (p.Asp1490Val) c.4532A>T (p.Asp1511Val) n.580A>T c.3944A>T (p.Asp1315Val) c.4076A>T (p.Asp1359Val) c.3896A>T (p.Asp1299Val) c.3833A>T (p.Asp1278Val) c.3677A>T (p.Asp1226Val) c.3608A>T (p.Asp1203Val) | gnomAD v4 |
6 | g.33164925T>C | CA363617674 | COL11A2 | n.596A>G c.4790A>G (p.Asp1597Gly) c.4469A>G (p.Asp1490Gly) c.4532A>G (p.Asp1511Gly) n.580A>G c.3944A>G (p.Asp1315Gly) c.4076A>G (p.Asp1359Gly) c.3896A>G (p.Asp1299Gly) c.3833A>G (p.Asp1278Gly) c.3677A>G (p.Asp1226Gly) c.3608A>G (p.Asp1203Gly) | |
6 | g.33164925T>G | CA363617675 | COL11A2 | n.596A>C c.4790A>C (p.Asp1597Ala) c.4469A>C (p.Asp1490Ala) c.4532A>C (p.Asp1511Ala) n.580A>C c.3944A>C (p.Asp1315Ala) c.4076A>C (p.Asp1359Ala) c.3896A>C (p.Asp1299Ala) c.3833A>C (p.Asp1278Ala) c.3677A>C (p.Asp1226Ala) c.3608A>C (p.Asp1203Ala) | |
6 | g.33164926C>A | CA363617677 | COL11A2 | n.595G>T c.4789G>T (p.Asp1597Tyr) c.4468G>T (p.Asp1490Tyr) c.4531G>T (p.Asp1511Tyr) n.579G>T c.3943G>T (p.Asp1315Tyr) c.4075G>T (p.Asp1359Tyr) c.3895G>T (p.Asp1299Tyr) c.3832G>T (p.Asp1278Tyr) c.3676G>T (p.Asp1226Tyr) c.3607G>T (p.Asp1203Tyr) | gnomAD v4 |
6 | g.33164926C= | CA1619890538 | COL11A2 | n.595G= c.4789G= (p.Asp1597=) c.4468G= (p.Asp1490=) c.4531G= (p.Asp1511=) n.579G= c.3943G= (p.Asp1315=) c.4075G= (p.Asp1359=) c.3895G= (p.Asp1299=) c.3832G= (p.Asp1278=) c.3676G= (p.Asp1226=) c.3607G= (p.Asp1203=) | |
6 | g.33164926C>G | CA363617679 | COL11A2 | n.595G>C c.4789G>C (p.Asp1597His) c.4468G>C (p.Asp1490His) c.4531G>C (p.Asp1511His) n.579G>C c.3943G>C (p.Asp1315His) c.4075G>C (p.Asp1359His) c.3895G>C (p.Asp1299His) c.3832G>C (p.Asp1278His) c.3676G>C (p.Asp1226His) c.3607G>C (p.Asp1203His) | |
6 | g.33164926C>T | CA363617681 | COL11A2 | n.595G>A c.4789G>A (p.Asp1597Asn) c.4468G>A (p.Asp1490Asn) c.4531G>A (p.Asp1511Asn) n.579G>A c.3943G>A (p.Asp1315Asn) c.4075G>A (p.Asp1359Asn) c.3895G>A (p.Asp1299Asn) c.3832G>A (p.Asp1278Asn) c.3676G>A (p.Asp1226Asn) c.3607G>A (p.Asp1203Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164928del | CA2739273023 | COL11A2 | n.595del c.4789del (p.Asp1597MetfsTer17) c.4468del (p.Asp1490MetfsTer17) c.4531del (p.Asp1511MetfsTer17) n.579del c.3943del (p.Asp1315MetfsTer17) c.4075del (p.Asp1359MetfsTer17) c.3895del (p.Asp1299MetfsTer17) c.3832del (p.Asp1278MetfsTer17) c.3676del (p.Asp1226MetfsTer17) c.3607del (p.Asp1203MetfsTer17) | ClinVar |
6 | g.33164927C>A | CA449867311 | COL11A2 | n.594G>T c.4788G>T (p.Arg1596=) c.4467G>T (p.Arg1489=) c.4530G>T (p.Arg1510=) n.578G>T c.3942G>T (p.Arg1314=) c.4074G>T (p.Arg1358=) c.3894G>T (p.Arg1298=) c.3831G>T (p.Arg1277=) c.3675G>T (p.Arg1225=) c.3606G>T (p.Arg1202=) | gnomAD v4 |
6 | g.33164927C>G | CA449867312 | COL11A2 | n.594G>C c.4788G>C (p.Arg1596=) c.4467G>C (p.Arg1489=) c.4530G>C (p.Arg1510=) n.578G>C c.3942G>C (p.Arg1314=) c.4074G>C (p.Arg1358=) c.3894G>C (p.Arg1298=) c.3831G>C (p.Arg1277=) c.3675G>C (p.Arg1225=) c.3606G>C (p.Arg1202=) | gnomAD v4 |
6 | g.33164927C>T | CA449867313 | COL11A2 | n.594G>A c.4788G>A (p.Arg1596=) c.4467G>A (p.Arg1489=) c.4530G>A (p.Arg1510=) n.578G>A c.3942G>A (p.Arg1314=) c.4074G>A (p.Arg1358=) c.3894G>A (p.Arg1298=) c.3831G>A (p.Arg1277=) c.3675G>A (p.Arg1225=) c.3606G>A (p.Arg1202=) | gnomAD v4 |
6 | g.33164927_33164933delinsCCGAGCA | CA1619890540 | COL11A2 | n.588_594delinsTGCTCGG c.4782_4788delinsTGCTCGG (p.Cys1594=) c.4461_4467delinsTGCTCGG (p.Cys1487=) c.4524_4530delinsTGCTCGG (p.Cys1508=) n.572_578delinsTGCTCGG c.3936_3942delinsTGCTCGG (p.Cys1312=) c.4068_4074delinsTGCTCGG (p.Cys1356=) c.3888_3894delinsTGCTCGG (p.Cys1296=) c.3825_3831delinsTGCTCGG (p.Cys1275=) c.3669_3675delinsTGCTCGG (p.Cys1223=) c.3600_3606delinsTGCTCGG (p.Cys1200=) | |
6 | g.33164928C>A | CA363617686 | COL11A2 | n.593G>T c.4787G>T (p.Arg1596Leu) c.4466G>T (p.Arg1489Leu) c.4529G>T (p.Arg1510Leu) n.577G>T c.3941G>T (p.Arg1314Leu) c.4073G>T (p.Arg1358Leu) c.3893G>T (p.Arg1298Leu) c.3830G>T (p.Arg1277Leu) c.3674G>T (p.Arg1225Leu) c.3605G>T (p.Arg1202Leu) | gnomAD v4 |
6 | g.33164928C= | CA1619890544 | COL11A2 | n.593G= c.4787G= (p.Arg1596=) c.4466G= (p.Arg1489=) c.4529G= (p.Arg1510=) n.577G= c.3941G= (p.Arg1314=) c.4073G= (p.Arg1358=) c.3893G= (p.Arg1298=) c.3830G= (p.Arg1277=) c.3674G= (p.Arg1225=) c.3605G= (p.Arg1202=) | |
6 | g.33164928C>G | CA363617685 | COL11A2 | n.593G>C c.4787G>C (p.Arg1596Pro) c.4466G>C (p.Arg1489Pro) c.4529G>C (p.Arg1510Pro) n.577G>C c.3941G>C (p.Arg1314Pro) c.4073G>C (p.Arg1358Pro) c.3893G>C (p.Arg1298Pro) c.3830G>C (p.Arg1277Pro) c.3674G>C (p.Arg1225Pro) c.3605G>C (p.Arg1202Pro) | |
6 | g.33164928C>T | CA137061744 | COL11A2 | n.593G>A c.4787G>A (p.Arg1596Gln) c.4466G>A (p.Arg1489Gln) c.4529G>A (p.Arg1510Gln) n.577G>A c.3941G>A (p.Arg1314Gln) c.4073G>A (p.Arg1358Gln) c.3893G>A (p.Arg1298Gln) c.3830G>A (p.Arg1277Gln) c.3674G>A (p.Arg1225Gln) c.3605G>A (p.Arg1202Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164929_33164934del | CA3749994 | COL11A2 | n.588_593del c.4782_4787del (p.Cys1594_Arg1596delinsTrp) c.4461_4466del (p.Cys1487_Arg1489delinsTrp) c.4524_4529del (p.Cys1508_Arg1510delinsTrp) n.572_577del c.3936_3941del (p.Cys1312_Arg1314delinsTrp) c.4068_4073del (p.Cys1356_Arg1358delinsTrp) c.3888_3893del (p.Cys1296_Arg1298delinsTrp) c.3825_3830del (p.Cys1275_Arg1277delinsTrp) c.3669_3674del (p.Cys1223_Arg1225delinsTrp) c.3600_3605del (p.Cys1200_Arg1202delinsTrp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164929G>A | CA3749995 | COL11A2 | n.592C>T c.4786C>T (p.Arg1596Trp) c.4465C>T (p.Arg1489Trp) c.4528C>T (p.Arg1510Trp) n.576C>T c.3940C>T (p.Arg1314Trp) c.4072C>T (p.Arg1358Trp) c.3892C>T (p.Arg1298Trp) c.3829C>T (p.Arg1277Trp) c.3673C>T (p.Arg1225Trp) c.3604C>T (p.Arg1202Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164929G>C | CA363617691 | COL11A2 | n.592C>G c.4786C>G (p.Arg1596Gly) c.4465C>G (p.Arg1489Gly) c.4528C>G (p.Arg1510Gly) n.576C>G c.3940C>G (p.Arg1314Gly) c.4072C>G (p.Arg1358Gly) c.3892C>G (p.Arg1298Gly) c.3829C>G (p.Arg1277Gly) c.3673C>G (p.Arg1225Gly) c.3604C>G (p.Arg1202Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164929G= | CA1619890549 | COL11A2 | n.592C= c.4786C= (p.Arg1596=) c.4465C= (p.Arg1489=) c.4528C= (p.Arg1510=) n.576C= c.3940C= (p.Arg1314=) c.4072C= (p.Arg1358=) c.3892C= (p.Arg1298=) c.3829C= (p.Arg1277=) c.3673C= (p.Arg1225=) c.3604C= (p.Arg1202=) | |
6 | g.33164929G>T | CA449867314 | COL11A2 | n.592C>A c.4786C>A (p.Arg1596=) c.4465C>A (p.Arg1489=) c.4528C>A (p.Arg1510=) n.576C>A c.3940C>A (p.Arg1314=) c.4072C>A (p.Arg1358=) c.3892C>A (p.Arg1298=) c.3829C>A (p.Arg1277=) c.3673C>A (p.Arg1225=) c.3604C>A (p.Arg1202=) | gnomAD v4 |
6 | g.33164930A>C | CA449867315 | COL11A2 | n.591T>G c.4785T>G (p.Ala1595=) c.4464T>G (p.Ala1488=) c.4527T>G (p.Ala1509=) n.575T>G c.3939T>G (p.Ala1313=) c.4071T>G (p.Ala1357=) c.3891T>G (p.Ala1297=) c.3828T>G (p.Ala1276=) c.3672T>G (p.Ala1224=) c.3603T>G (p.Ala1201=) | |
6 | g.33164930A>G | CA449867316 | COL11A2 | n.591T>C c.4785T>C (p.Ala1595=) c.4464T>C (p.Ala1488=) c.4527T>C (p.Ala1509=) n.575T>C c.3939T>C (p.Ala1313=) c.4071T>C (p.Ala1357=) c.3891T>C (p.Ala1297=) c.3828T>C (p.Ala1276=) c.3672T>C (p.Ala1224=) c.3603T>C (p.Ala1201=) | |
6 | g.33164930A>T | CA449867317 | COL11A2 | n.591T>A c.4785T>A (p.Ala1595=) c.4464T>A (p.Ala1488=) c.4527T>A (p.Ala1509=) n.575T>A c.3939T>A (p.Ala1313=) c.4071T>A (p.Ala1357=) c.3891T>A (p.Ala1297=) c.3828T>A (p.Ala1276=) c.3672T>A (p.Ala1224=) c.3603T>A (p.Ala1201=) | |
6 | g.33164931G>A | CA363617694 | COL11A2 | n.590C>T c.4784C>T (p.Ala1595Val) c.4463C>T (p.Ala1488Val) c.4526C>T (p.Ala1509Val) n.574C>T c.3938C>T (p.Ala1313Val) c.4070C>T (p.Ala1357Val) c.3890C>T (p.Ala1297Val) c.3827C>T (p.Ala1276Val) c.3671C>T (p.Ala1224Val) c.3602C>T (p.Ala1201Val) | gnomAD v4 |
6 | g.33164931G>C | CA363617697 | COL11A2 | n.590C>G c.4784C>G (p.Ala1595Gly) c.4463C>G (p.Ala1488Gly) c.4526C>G (p.Ala1509Gly) n.574C>G c.3938C>G (p.Ala1313Gly) c.4070C>G (p.Ala1357Gly) c.3890C>G (p.Ala1297Gly) c.3827C>G (p.Ala1276Gly) c.3671C>G (p.Ala1224Gly) c.3602C>G (p.Ala1201Gly) | |
6 | g.33164931G>T | CA363617698 | COL11A2 | n.590C>A c.4784C>A (p.Ala1595Asp) c.4463C>A (p.Ala1488Asp) c.4526C>A (p.Ala1509Asp) n.574C>A c.3938C>A (p.Ala1313Asp) c.4070C>A (p.Ala1357Asp) c.3890C>A (p.Ala1297Asp) c.3827C>A (p.Ala1276Asp) c.3671C>A (p.Ala1224Asp) c.3602C>A (p.Ala1201Asp) | gnomAD v4 |
6 | g.33164932C>A | CA363617701 | COL11A2 | n.589G>T c.4783G>T (p.Ala1595Ser) c.4462G>T (p.Ala1488Ser) c.4525G>T (p.Ala1509Ser) n.573G>T c.3937G>T (p.Ala1313Ser) c.4069G>T (p.Ala1357Ser) c.3889G>T (p.Ala1297Ser) c.3826G>T (p.Ala1276Ser) c.3670G>T (p.Ala1224Ser) c.3601G>T (p.Ala1201Ser) | gnomAD v4 |
6 | g.33164932C>G | CA363617703 | COL11A2 | n.589G>C c.4783G>C (p.Ala1595Pro) c.4462G>C (p.Ala1488Pro) c.4525G>C (p.Ala1509Pro) n.573G>C c.3937G>C (p.Ala1313Pro) c.4069G>C (p.Ala1357Pro) c.3889G>C (p.Ala1297Pro) c.3826G>C (p.Ala1276Pro) c.3670G>C (p.Ala1224Pro) c.3601G>C (p.Ala1201Pro) | |
6 | g.33164932C>T | CA363617702 | COL11A2 | n.589G>A c.4783G>A (p.Ala1595Thr) c.4462G>A (p.Ala1488Thr) c.4525G>A (p.Ala1509Thr) n.573G>A c.3937G>A (p.Ala1313Thr) c.4069G>A (p.Ala1357Thr) c.3889G>A (p.Ala1297Thr) c.3826G>A (p.Ala1276Thr) c.3670G>A (p.Ala1224Thr) c.3601G>A (p.Ala1201Thr) | gnomAD v4 |
6 | g.33164933A>C | CA363617704 | COL11A2 | n.588T>G c.4782T>G (p.Cys1594Trp) c.4461T>G (p.Cys1487Trp) c.4524T>G (p.Cys1508Trp) n.572T>G c.3936T>G (p.Cys1312Trp) c.4068T>G (p.Cys1356Trp) c.3888T>G (p.Cys1296Trp) c.3825T>G (p.Cys1275Trp) c.3669T>G (p.Cys1223Trp) c.3600T>G (p.Cys1200Trp) | |
6 | g.33164933A>G | CA449867318 | COL11A2 | n.588T>C c.4782T>C (p.Cys1594=) c.4461T>C (p.Cys1487=) c.4524T>C (p.Cys1508=) n.572T>C c.3936T>C (p.Cys1312=) c.4068T>C (p.Cys1356=) c.3888T>C (p.Cys1296=) c.3825T>C (p.Cys1275=) c.3669T>C (p.Cys1223=) c.3600T>C (p.Cys1200=) | gnomAD v4 |
6 | g.33164933A>T | CA363617705 | COL11A2 | n.588T>A c.4782T>A (p.Cys1594Ter) c.4461T>A (p.Cys1487Ter) c.4524T>A (p.Cys1508Ter) n.572T>A c.3936T>A (p.Cys1312Ter) c.4068T>A (p.Cys1356Ter) c.3888T>A (p.Cys1296Ter) c.3825T>A (p.Cys1275Ter) c.3669T>A (p.Cys1223Ter) c.3600T>A (p.Cys1200Ter) | gnomAD v4 |
6 | g.33164934C>A | CA363617708 | COL11A2 | n.587G>T c.4781G>T (p.Cys1594Phe) c.4460G>T (p.Cys1487Phe) c.4523G>T (p.Cys1508Phe) n.571G>T c.3935G>T (p.Cys1312Phe) c.4067G>T (p.Cys1356Phe) c.3887G>T (p.Cys1296Phe) c.3824G>T (p.Cys1275Phe) c.3668G>T (p.Cys1223Phe) c.3599G>T (p.Cys1200Phe) | gnomAD v4 |
6 | g.33164934C= | CA1619890555 | COL11A2 | n.587G= c.4781G= (p.Cys1594=) c.4460G= (p.Cys1487=) c.4523G= (p.Cys1508=) n.571G= c.3935G= (p.Cys1312=) c.4067G= (p.Cys1356=) c.3887G= (p.Cys1296=) c.3824G= (p.Cys1275=) c.3668G= (p.Cys1223=) c.3599G= (p.Cys1200=) | |
6 | g.33164934C>G | CA363617709 | COL11A2 | n.587G>C c.4781G>C (p.Cys1594Ser) c.4460G>C (p.Cys1487Ser) c.4523G>C (p.Cys1508Ser) n.571G>C c.3935G>C (p.Cys1312Ser) c.4067G>C (p.Cys1356Ser) c.3887G>C (p.Cys1296Ser) c.3824G>C (p.Cys1275Ser) c.3668G>C (p.Cys1223Ser) c.3599G>C (p.Cys1200Ser) | |
6 | g.33164934C>T | CA363617712 | COL11A2 | n.587G>A c.4781G>A (p.Cys1594Tyr) c.4460G>A (p.Cys1487Tyr) c.4523G>A (p.Cys1508Tyr) n.571G>A c.3935G>A (p.Cys1312Tyr) c.4067G>A (p.Cys1356Tyr) c.3887G>A (p.Cys1296Tyr) c.3824G>A (p.Cys1275Tyr) c.3668G>A (p.Cys1223Tyr) c.3599G>A (p.Cys1200Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164935A= | CA1619890562 | COL11A2 | n.586T= c.4780T= (p.Cys1594=) c.4459T= (p.Cys1487=) c.4522T= (p.Cys1508=) n.570T= c.3934T= (p.Cys1312=) c.4066T= (p.Cys1356=) c.3886T= (p.Cys1296=) c.3823T= (p.Cys1275=) c.3667T= (p.Cys1223=) c.3598T= (p.Cys1200=) | |
6 | g.33164935A>C | CA363617716 | COL11A2 | n.586T>G c.4780T>G (p.Cys1594Gly) c.4459T>G (p.Cys1487Gly) c.4522T>G (p.Cys1508Gly) n.570T>G c.3934T>G (p.Cys1312Gly) c.4066T>G (p.Cys1356Gly) c.3886T>G (p.Cys1296Gly) c.3823T>G (p.Cys1275Gly) c.3667T>G (p.Cys1223Gly) c.3598T>G (p.Cys1200Gly) | gnomAD v4 |
6 | g.33164935A>G | CA363617718 | COL11A2 | n.586T>C c.4780T>C (p.Cys1594Arg) c.4459T>C (p.Cys1487Arg) c.4522T>C (p.Cys1508Arg) n.570T>C c.3934T>C (p.Cys1312Arg) c.4066T>C (p.Cys1356Arg) c.3886T>C (p.Cys1296Arg) c.3823T>C (p.Cys1275Arg) c.3667T>C (p.Cys1223Arg) c.3598T>C (p.Cys1200Arg) | gnomAD v4 |
6 | g.33164935A>T | CA363617720 | COL11A2 | n.586T>A c.4780T>A (p.Cys1594Ser) c.4459T>A (p.Cys1487Ser) c.4522T>A (p.Cys1508Ser) n.570T>A c.3934T>A (p.Cys1312Ser) c.4066T>A (p.Cys1356Ser) c.3886T>A (p.Cys1296Ser) c.3823T>A (p.Cys1275Ser) c.3667T>A (p.Cys1223Ser) c.3598T>A (p.Cys1200Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164936G>A | CA449867319 | COL11A2 | n.585C>T c.4779C>T (p.Gly1593=) c.4458C>T (p.Gly1486=) c.4521C>T (p.Gly1507=) n.569C>T c.3933C>T (p.Gly1311=) c.4065C>T (p.Gly1355=) c.3885C>T (p.Gly1295=) c.3822C>T (p.Gly1274=) c.3666C>T (p.Gly1222=) c.3597C>T (p.Gly1199=) | gnomAD v4 |
6 | g.33164936G>C | CA449867320 | COL11A2 | n.585C>G c.4779C>G (p.Gly1593=) c.4458C>G (p.Gly1486=) c.4521C>G (p.Gly1507=) n.569C>G c.3933C>G (p.Gly1311=) c.4065C>G (p.Gly1355=) c.3885C>G (p.Gly1295=) c.3822C>G (p.Gly1274=) c.3666C>G (p.Gly1222=) c.3597C>G (p.Gly1199=) | gnomAD v4 |
6 | g.33164936G>T | CA449867321 | COL11A2 | n.585C>A c.4779C>A (p.Gly1593=) c.4458C>A (p.Gly1486=) c.4521C>A (p.Gly1507=) n.569C>A c.3933C>A (p.Gly1311=) c.4065C>A (p.Gly1355=) c.3885C>A (p.Gly1295=) c.3822C>A (p.Gly1274=) c.3666C>A (p.Gly1222=) c.3597C>A (p.Gly1199=) | gnomAD v4 |
6 | g.33164937C>A | CA363617723 | COL11A2 | n.584G>T c.4778G>T (p.Gly1593Val) c.4457G>T (p.Gly1486Val) c.4520G>T (p.Gly1507Val) n.568G>T c.3932G>T (p.Gly1311Val) c.4064G>T (p.Gly1355Val) c.3884G>T (p.Gly1295Val) c.3821G>T (p.Gly1274Val) c.3665G>T (p.Gly1222Val) c.3596G>T (p.Gly1199Val) | gnomAD v4 |
6 | g.33164937C>G | CA363617726 | COL11A2 | n.584G>C c.4778G>C (p.Gly1593Ala) c.4457G>C (p.Gly1486Ala) c.4520G>C (p.Gly1507Ala) n.568G>C c.3932G>C (p.Gly1311Ala) c.4064G>C (p.Gly1355Ala) c.3884G>C (p.Gly1295Ala) c.3821G>C (p.Gly1274Ala) c.3665G>C (p.Gly1222Ala) c.3596G>C (p.Gly1199Ala) | |
6 | g.33164937C>T | CA363617727 | COL11A2 | n.584G>A c.4778G>A (p.Gly1593Asp) c.4457G>A (p.Gly1486Asp) c.4520G>A (p.Gly1507Asp) n.568G>A c.3932G>A (p.Gly1311Asp) c.4064G>A (p.Gly1355Asp) c.3884G>A (p.Gly1295Asp) c.3821G>A (p.Gly1274Asp) c.3665G>A (p.Gly1222Asp) c.3596G>A (p.Gly1199Asp) | gnomAD v4 |
6 | g.33164938C>A | CA363617731 | COL11A2 | n.583G>T c.4777G>T (p.Gly1593Cys) c.4456G>T (p.Gly1486Cys) c.4519G>T (p.Gly1507Cys) n.567G>T c.3931G>T (p.Gly1311Cys) c.4063G>T (p.Gly1355Cys) c.3883G>T (p.Gly1295Cys) c.3820G>T (p.Gly1274Cys) c.3664G>T (p.Gly1222Cys) c.3595G>T (p.Gly1199Cys) | gnomAD v4 |
6 | g.33164938C= | CA1619890567 | COL11A2 | n.583G= c.4777G= (p.Gly1593=) c.4456G= (p.Gly1486=) c.4519G= (p.Gly1507=) n.567G= c.3931G= (p.Gly1311=) c.4063G= (p.Gly1355=) c.3883G= (p.Gly1295=) c.3820G= (p.Gly1274=) c.3664G= (p.Gly1222=) c.3595G= (p.Gly1199=) | |
6 | g.33164938C>G | CA363617750 | COL11A2 | n.583G>C c.4777G>C (p.Gly1593Arg) c.4456G>C (p.Gly1486Arg) c.4519G>C (p.Gly1507Arg) n.567G>C c.3931G>C (p.Gly1311Arg) c.4063G>C (p.Gly1355Arg) c.3883G>C (p.Gly1295Arg) c.3820G>C (p.Gly1274Arg) c.3664G>C (p.Gly1222Arg) c.3595G>C (p.Gly1199Arg) | |
6 | g.33164938C>T | CA363617747 | COL11A2 | n.583G>A c.4777G>A (p.Gly1593Ser) c.4456G>A (p.Gly1486Ser) c.4519G>A (p.Gly1507Ser) n.567G>A c.3931G>A (p.Gly1311Ser) c.4063G>A (p.Gly1355Ser) c.3883G>A (p.Gly1295Ser) c.3820G>A (p.Gly1274Ser) c.3664G>A (p.Gly1222Ser) c.3595G>A (p.Gly1199Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164939C>A | CA363617753 | COL11A2 | n.582G>T c.4776G>T (p.Gln1592His) c.4455G>T (p.Gln1485His) c.4518G>T (p.Gln1506His) n.566G>T c.3930G>T (p.Gln1310His) c.4062G>T (p.Gln1354His) c.3882G>T (p.Gln1294His) c.3819G>T (p.Gln1273His) c.3663G>T (p.Gln1221His) c.3594G>T (p.Gln1198His) | gnomAD v4 |
6 | g.33164939C= | CA1619890574 | COL11A2 | n.582G= c.4776G= (p.Gln1592=) c.4455G= (p.Gln1485=) c.4518G= (p.Gln1506=) n.566G= c.3930G= (p.Gln1310=) c.4062G= (p.Gln1354=) c.3882G= (p.Gln1294=) c.3819G= (p.Gln1273=) c.3663G= (p.Gln1221=) c.3594G= (p.Gln1198=) | |
6 | g.33164939C>G | CA363617755 | COL11A2 | n.582G>C c.4776G>C (p.Gln1592His) c.4455G>C (p.Gln1485His) c.4518G>C (p.Gln1506His) n.566G>C c.3930G>C (p.Gln1310His) c.4062G>C (p.Gln1354His) c.3882G>C (p.Gln1294His) c.3819G>C (p.Gln1273His) c.3663G>C (p.Gln1221His) c.3594G>C (p.Gln1198His) | |
6 | g.33164939C>T | CA449867322 | COL11A2 | n.582G>A c.4776G>A (p.Gln1592=) c.4455G>A (p.Gln1485=) c.4518G>A (p.Gln1506=) n.566G>A c.3930G>A (p.Gln1310=) c.4062G>A (p.Gln1354=) c.3882G>A (p.Gln1294=) c.3819G>A (p.Gln1273=) c.3663G>A (p.Gln1221=) c.3594G>A (p.Gln1198=) | dbSNP gnomAD v2 |
6 | g.33164940T>A | CA363617758 | COL11A2 | n.581A>T c.4775A>T (p.Gln1592Leu) c.4454A>T (p.Gln1485Leu) c.4517A>T (p.Gln1506Leu) n.565A>T c.3929A>T (p.Gln1310Leu) c.4061A>T (p.Gln1354Leu) c.3881A>T (p.Gln1294Leu) c.3818A>T (p.Gln1273Leu) c.3662A>T (p.Gln1221Leu) c.3593A>T (p.Gln1198Leu) | gnomAD v4 COSMIC |
6 | g.33164940T>C | CA363617761 | COL11A2 | n.581A>G c.4775A>G (p.Gln1592Arg) c.4454A>G (p.Gln1485Arg) c.4517A>G (p.Gln1506Arg) n.565A>G c.3929A>G (p.Gln1310Arg) c.4061A>G (p.Gln1354Arg) c.3881A>G (p.Gln1294Arg) c.3818A>G (p.Gln1273Arg) c.3662A>G (p.Gln1221Arg) c.3593A>G (p.Gln1198Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164940T>G | CA363617763 | COL11A2 | n.581A>C c.4775A>C (p.Gln1592Pro) c.4454A>C (p.Gln1485Pro) c.4517A>C (p.Gln1506Pro) n.565A>C c.3929A>C (p.Gln1310Pro) c.4061A>C (p.Gln1354Pro) c.3881A>C (p.Gln1294Pro) c.3818A>C (p.Gln1273Pro) c.3662A>C (p.Gln1221Pro) c.3593A>C (p.Gln1198Pro) | |
6 | g.33164940T= | CA1619890578 | COL11A2 | n.581A= c.4775A= (p.Gln1592=) c.4454A= (p.Gln1485=) c.4517A= (p.Gln1506=) n.565A= c.3929A= (p.Gln1310=) c.4061A= (p.Gln1354=) c.3881A= (p.Gln1294=) c.3818A= (p.Gln1273=) c.3662A= (p.Gln1221=) c.3593A= (p.Gln1198=) | |
6 | g.33164941G>A | CA363617767 | COL11A2 | n.580C>T c.4774C>T (p.Gln1592Ter) c.4453C>T (p.Gln1485Ter) c.4516C>T (p.Gln1506Ter) n.564C>T c.3928C>T (p.Gln1310Ter) c.4060C>T (p.Gln1354Ter) c.3880C>T (p.Gln1294Ter) c.3817C>T (p.Gln1273Ter) c.3661C>T (p.Gln1221Ter) c.3592C>T (p.Gln1198Ter) | gnomAD v4 |
6 | g.33164941G>C | CA363617770 | COL11A2 | n.580C>G c.4774C>G (p.Gln1592Glu) c.4453C>G (p.Gln1485Glu) c.4516C>G (p.Gln1506Glu) n.564C>G c.3928C>G (p.Gln1310Glu) c.4060C>G (p.Gln1354Glu) c.3880C>G (p.Gln1294Glu) c.3817C>G (p.Gln1273Glu) c.3661C>G (p.Gln1221Glu) c.3592C>G (p.Gln1198Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164941G= | CA1619890582 | COL11A2 | n.580C= c.4774C= (p.Gln1592=) c.4453C= (p.Gln1485=) c.4516C= (p.Gln1506=) n.564C= c.3928C= (p.Gln1310=) c.4060C= (p.Gln1354=) c.3880C= (p.Gln1294=) c.3817C= (p.Gln1273=) c.3661C= (p.Gln1221=) c.3592C= (p.Gln1198=) | |
6 | g.33164941G>T | CA363617772 | COL11A2 | n.580C>A c.4774C>A (p.Gln1592Lys) c.4453C>A (p.Gln1485Lys) c.4516C>A (p.Gln1506Lys) n.564C>A c.3928C>A (p.Gln1310Lys) c.4060C>A (p.Gln1354Lys) c.3880C>A (p.Gln1294Lys) c.3817C>A (p.Gln1273Lys) c.3661C>A (p.Gln1221Lys) c.3592C>A (p.Gln1198Lys) | gnomAD v4 |
6 | g.33164942G>A | CA449867323 | COL11A2 | n.579C>T c.4773C>T (p.Asn1591=) c.4452C>T (p.Asn1484=) c.4515C>T (p.Asn1505=) n.563C>T c.3927C>T (p.Asn1309=) c.4059C>T (p.Asn1353=) c.3879C>T (p.Asn1293=) c.3816C>T (p.Asn1272=) c.3660C>T (p.Asn1220=) c.3591C>T (p.Asn1197=) | ClinVar dbSNP gnomAD v4 |
6 | g.33164942G>C | CA363617774 | COL11A2 | n.579C>G c.4773C>G (p.Asn1591Lys) c.4452C>G (p.Asn1484Lys) c.4515C>G (p.Asn1505Lys) n.563C>G c.3927C>G (p.Asn1309Lys) c.4059C>G (p.Asn1353Lys) c.3879C>G (p.Asn1293Lys) c.3816C>G (p.Asn1272Lys) c.3660C>G (p.Asn1220Lys) c.3591C>G (p.Asn1197Lys) | |
6 | g.33164942G= | CA1619890586 | COL11A2 | n.579C= c.4773C= (p.Asn1591=) c.4452C= (p.Asn1484=) c.4515C= (p.Asn1505=) n.563C= c.3927C= (p.Asn1309=) c.4059C= (p.Asn1353=) c.3879C= (p.Asn1293=) c.3816C= (p.Asn1272=) c.3660C= (p.Asn1220=) c.3591C= (p.Asn1197=) | |
6 | g.33164942G>T | CA363617776 | COL11A2 | n.579C>A c.4773C>A (p.Asn1591Lys) c.4452C>A (p.Asn1484Lys) c.4515C>A (p.Asn1505Lys) n.563C>A c.3927C>A (p.Asn1309Lys) c.4059C>A (p.Asn1353Lys) c.3879C>A (p.Asn1293Lys) c.3816C>A (p.Asn1272Lys) c.3660C>A (p.Asn1220Lys) c.3591C>A (p.Asn1197Lys) | gnomAD v4 |
6 | g.33164943T>A | CA363617780 | COL11A2 | n.578A>T c.4772A>T (p.Asn1591Ile) c.4451A>T (p.Asn1484Ile) c.4514A>T (p.Asn1505Ile) n.562A>T c.3926A>T (p.Asn1309Ile) c.4058A>T (p.Asn1353Ile) c.3878A>T (p.Asn1293Ile) c.3815A>T (p.Asn1272Ile) c.3659A>T (p.Asn1220Ile) c.3590A>T (p.Asn1197Ile) | gnomAD v4 |
6 | g.33164943T>C | CA363617783 | COL11A2 | n.578A>G c.4772A>G (p.Asn1591Ser) c.4451A>G (p.Asn1484Ser) c.4514A>G (p.Asn1505Ser) n.562A>G c.3926A>G (p.Asn1309Ser) c.4058A>G (p.Asn1353Ser) c.3878A>G (p.Asn1293Ser) c.3815A>G (p.Asn1272Ser) c.3659A>G (p.Asn1220Ser) c.3590A>G (p.Asn1197Ser) | gnomAD v4 |
6 | g.33164943T>G | CA363617785 | COL11A2 | n.578A>C c.4772A>C (p.Asn1591Thr) c.4451A>C (p.Asn1484Thr) c.4514A>C (p.Asn1505Thr) n.562A>C c.3926A>C (p.Asn1309Thr) c.4058A>C (p.Asn1353Thr) c.3878A>C (p.Asn1293Thr) c.3815A>C (p.Asn1272Thr) c.3659A>C (p.Asn1220Thr) c.3590A>C (p.Asn1197Thr) | |
6 | g.33164944del | CA2678226389 | COL11A2 | n.578del c.4772del (p.Asn1591ThrfsTer23) c.4451del (p.Asn1484ThrfsTer23) c.4514del (p.Asn1505ThrfsTer23) n.562del c.3926del (p.Asn1309ThrfsTer23) c.4058del (p.Asn1353ThrfsTer23) c.3878del (p.Asn1293ThrfsTer23) c.3815del (p.Asn1272ThrfsTer23) c.3659del (p.Asn1220ThrfsTer23) c.3590del (p.Asn1197ThrfsTer23) | gnomAD v4 |
6 | g.33164944T>A | CA363617790 | COL11A2 | n.577A>T c.4771A>T (p.Asn1591Tyr) c.4450A>T (p.Asn1484Tyr) c.4513A>T (p.Asn1505Tyr) n.561A>T c.3925A>T (p.Asn1309Tyr) c.4057A>T (p.Asn1353Tyr) c.3877A>T (p.Asn1293Tyr) c.3814A>T (p.Asn1272Tyr) c.3658A>T (p.Asn1220Tyr) c.3589A>T (p.Asn1197Tyr) | |
6 | g.33164944T>C | CA363617794 | COL11A2 | n.577A>G c.4771A>G (p.Asn1591Asp) c.4450A>G (p.Asn1484Asp) c.4513A>G (p.Asn1505Asp) n.561A>G c.3925A>G (p.Asn1309Asp) c.4057A>G (p.Asn1353Asp) c.3877A>G (p.Asn1293Asp) c.3814A>G (p.Asn1272Asp) c.3658A>G (p.Asn1220Asp) c.3589A>G (p.Asn1197Asp) | gnomAD v4 |
6 | g.33164944T>G | CA363617793 | COL11A2 | n.577A>C c.4771A>C (p.Asn1591His) c.4450A>C (p.Asn1484His) c.4513A>C (p.Asn1505His) n.561A>C c.3925A>C (p.Asn1309His) c.4057A>C (p.Asn1353His) c.3877A>C (p.Asn1293His) c.3814A>C (p.Asn1272His) c.3658A>C (p.Asn1220His) c.3589A>C (p.Asn1197His) | |
6 | g.33164945G>A | CA3749996 | COL11A2 | n.576C>T c.4770C>T (p.Pro1590=) c.4449C>T (p.Pro1483=) c.4512C>T (p.Pro1504=) n.560C>T c.3924C>T (p.Pro1308=) c.4056C>T (p.Pro1352=) c.3876C>T (p.Pro1292=) c.3813C>T (p.Pro1271=) c.3657C>T (p.Pro1219=) c.3588C>T (p.Pro1196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164945G>C | CA449867325 | COL11A2 | n.576C>G c.4770C>G (p.Pro1590=) c.4449C>G (p.Pro1483=) c.4512C>G (p.Pro1504=) n.560C>G c.3924C>G (p.Pro1308=) c.4056C>G (p.Pro1352=) c.3876C>G (p.Pro1292=) c.3813C>G (p.Pro1271=) c.3657C>G (p.Pro1219=) c.3588C>G (p.Pro1196=) | |
6 | g.33164945G= | CA1619890590 | COL11A2 | n.576C= c.4770C= (p.Pro1590=) c.4449C= (p.Pro1483=) c.4512C= (p.Pro1504=) n.560C= c.3924C= (p.Pro1308=) c.4056C= (p.Pro1352=) c.3876C= (p.Pro1292=) c.3813C= (p.Pro1271=) c.3657C= (p.Pro1219=) c.3588C= (p.Pro1196=) | |
6 | g.33164945G>T | CA449867324 | COL11A2 | n.576C>A c.4770C>A (p.Pro1590=) c.4449C>A (p.Pro1483=) c.4512C>A (p.Pro1504=) n.560C>A c.3924C>A (p.Pro1308=) c.4056C>A (p.Pro1352=) c.3876C>A (p.Pro1292=) c.3813C>A (p.Pro1271=) c.3657C>A (p.Pro1219=) c.3588C>A (p.Pro1196=) | gnomAD v4 |
6 | g.33164948del | CA2678226393 | COL11A2 | n.576del c.4770del (p.Asn1591ThrfsTer23) c.4449del (p.Asn1484ThrfsTer23) c.4512del (p.Asn1505ThrfsTer23) n.560del c.3924del (p.Asn1309ThrfsTer23) c.4056del (p.Asn1353ThrfsTer23) c.3876del (p.Asn1293ThrfsTer23) c.3813del (p.Asn1272ThrfsTer23) c.3657del (p.Asn1220ThrfsTer23) c.3588del (p.Asn1197ThrfsTer23) | gnomAD v4 |
6 | g.33164946G>A | CA363617800 | COL11A2 | n.575C>T c.4769C>T (p.Pro1590Leu) c.4448C>T (p.Pro1483Leu) c.4511C>T (p.Pro1504Leu) n.559C>T c.3923C>T (p.Pro1308Leu) c.4055C>T (p.Pro1352Leu) c.3875C>T (p.Pro1292Leu) c.3812C>T (p.Pro1271Leu) c.3656C>T (p.Pro1219Leu) c.3587C>T (p.Pro1196Leu) | gnomAD v4 |
6 | g.33164946G>C | CA363617803 | COL11A2 | n.575C>G c.4769C>G (p.Pro1590Arg) c.4448C>G (p.Pro1483Arg) c.4511C>G (p.Pro1504Arg) n.559C>G c.3923C>G (p.Pro1308Arg) c.4055C>G (p.Pro1352Arg) c.3875C>G (p.Pro1292Arg) c.3812C>G (p.Pro1271Arg) c.3656C>G (p.Pro1219Arg) c.3587C>G (p.Pro1196Arg) | |
6 | g.33164946G>T | CA363617806 | COL11A2 | n.575C>A c.4769C>A (p.Pro1590His) c.4448C>A (p.Pro1483His) c.4511C>A (p.Pro1504His) n.559C>A c.3923C>A (p.Pro1308His) c.4055C>A (p.Pro1352His) c.3875C>A (p.Pro1292His) c.3812C>A (p.Pro1271His) c.3656C>A (p.Pro1219His) c.3587C>A (p.Pro1196His) | gnomAD v4 |
6 | g.33164947G>A | CA363617808 | COL11A2 | n.574C>T c.4768C>T (p.Pro1590Ser) c.4447C>T (p.Pro1483Ser) c.4510C>T (p.Pro1504Ser) n.558C>T c.3922C>T (p.Pro1308Ser) c.4054C>T (p.Pro1352Ser) c.3874C>T (p.Pro1292Ser) c.3811C>T (p.Pro1271Ser) c.3655C>T (p.Pro1219Ser) c.3586C>T (p.Pro1196Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164947G>C | CA363617810 | COL11A2 | n.574C>G c.4768C>G (p.Pro1590Ala) c.4447C>G (p.Pro1483Ala) c.4510C>G (p.Pro1504Ala) n.558C>G c.3922C>G (p.Pro1308Ala) c.4054C>G (p.Pro1352Ala) c.3874C>G (p.Pro1292Ala) c.3811C>G (p.Pro1271Ala) c.3655C>G (p.Pro1219Ala) c.3586C>G (p.Pro1196Ala) | |
6 | g.33164947G= | CA1619890595 | COL11A2 | n.574C= c.4768C= (p.Pro1590=) c.4447C= (p.Pro1483=) c.4510C= (p.Pro1504=) n.558C= c.3922C= (p.Pro1308=) c.4054C= (p.Pro1352=) c.3874C= (p.Pro1292=) c.3811C= (p.Pro1271=) c.3655C= (p.Pro1219=) c.3586C= (p.Pro1196=) | |
6 | g.33164947G>T | CA363617812 | COL11A2 | n.574C>A c.4768C>A (p.Pro1590Thr) c.4447C>A (p.Pro1483Thr) c.4510C>A (p.Pro1504Thr) n.558C>A c.3922C>A (p.Pro1308Thr) c.4054C>A (p.Pro1352Thr) c.3874C>A (p.Pro1292Thr) c.3811C>A (p.Pro1271Thr) c.3655C>A (p.Pro1219Thr) c.3586C>A (p.Pro1196Thr) | gnomAD v4 COSMIC |
6 | g.33164948G>A | CA10606444 | COL11A2 | n.573C>T c.4767C>T (p.Asp1589=) c.4446C>T (p.Asp1482=) c.4509C>T (p.Asp1503=) n.557C>T c.3921C>T (p.Asp1307=) c.4053C>T (p.Asp1351=) c.3873C>T (p.Asp1291=) c.3810C>T (p.Asp1270=) c.3654C>T (p.Asp1218=) c.3585C>T (p.Asp1195=) | ClinVar dbSNP gnomAD v4 |
6 | g.33164948G>C | CA363617817 | COL11A2 | n.573C>G c.4767C>G (p.Asp1589Glu) c.4446C>G (p.Asp1482Glu) c.4509C>G (p.Asp1503Glu) n.557C>G c.3921C>G (p.Asp1307Glu) c.4053C>G (p.Asp1351Glu) c.3873C>G (p.Asp1291Glu) c.3810C>G (p.Asp1270Glu) c.3654C>G (p.Asp1218Glu) c.3585C>G (p.Asp1195Glu) | gnomAD v4 |
6 | g.33164948G= | CA1619890602 | COL11A2 | n.573C= c.4767C= (p.Asp1589=) c.4446C= (p.Asp1482=) c.4509C= (p.Asp1503=) n.557C= c.3921C= (p.Asp1307=) c.4053C= (p.Asp1351=) c.3873C= (p.Asp1291=) c.3810C= (p.Asp1270=) c.3654C= (p.Asp1218=) c.3585C= (p.Asp1195=) | |
6 | g.33164948G>T | CA363617820 | COL11A2 | n.573C>A c.4767C>A (p.Asp1589Glu) c.4446C>A (p.Asp1482Glu) c.4509C>A (p.Asp1503Glu) n.557C>A c.3921C>A (p.Asp1307Glu) c.4053C>A (p.Asp1351Glu) c.3873C>A (p.Asp1291Glu) c.3810C>A (p.Asp1270Glu) c.3654C>A (p.Asp1218Glu) c.3585C>A (p.Asp1195Glu) | gnomAD v4 |
6 | g.33164949T>A | CA363617825 | COL11A2 | n.572A>T c.4766A>T (p.Asp1589Val) c.4445A>T (p.Asp1482Val) c.4508A>T (p.Asp1503Val) n.556A>T c.3920A>T (p.Asp1307Val) c.4052A>T (p.Asp1351Val) c.3872A>T (p.Asp1291Val) c.3809A>T (p.Asp1270Val) c.3653A>T (p.Asp1218Val) c.3584A>T (p.Asp1195Val) | gnomAD v4 |
6 | g.33164949T>C | CA363617828 | COL11A2 | n.572A>G c.4766A>G (p.Asp1589Gly) c.4445A>G (p.Asp1482Gly) c.4508A>G (p.Asp1503Gly) n.556A>G c.3920A>G (p.Asp1307Gly) c.4052A>G (p.Asp1351Gly) c.3872A>G (p.Asp1291Gly) c.3809A>G (p.Asp1270Gly) c.3653A>G (p.Asp1218Gly) c.3584A>G (p.Asp1195Gly) | ClinVar gnomAD v4 |
6 | g.33164949T>G | CA363617822 | COL11A2 | n.572A>C c.4766A>C (p.Asp1589Ala) c.4445A>C (p.Asp1482Ala) c.4508A>C (p.Asp1503Ala) n.556A>C c.3920A>C (p.Asp1307Ala) c.4052A>C (p.Asp1351Ala) c.3872A>C (p.Asp1291Ala) c.3809A>C (p.Asp1270Ala) c.3653A>C (p.Asp1218Ala) c.3584A>C (p.Asp1195Ala) | |
6 | g.33164950del | CA2678226407 | COL11A2 | n.571del c.4765del (p.Asp1589ThrfsTer25) c.4444del (p.Asp1482ThrfsTer25) c.4507del (p.Asp1503ThrfsTer25) n.555del c.3919del (p.Asp1307ThrfsTer25) c.4051del (p.Asp1351ThrfsTer25) c.3871del (p.Asp1291ThrfsTer25) c.3808del (p.Asp1270ThrfsTer25) c.3652del (p.Asp1218ThrfsTer25) c.3583del (p.Asp1195ThrfsTer25) | gnomAD v4 |
6 | g.33164950C>A | CA363617837 | COL11A2 | n.571G>T c.4765G>T (p.Asp1589Tyr) c.4444G>T (p.Asp1482Tyr) c.4507G>T (p.Asp1503Tyr) n.555G>T c.3919G>T (p.Asp1307Tyr) c.4051G>T (p.Asp1351Tyr) c.3871G>T (p.Asp1291Tyr) c.3808G>T (p.Asp1270Tyr) c.3652G>T (p.Asp1218Tyr) c.3583G>T (p.Asp1195Tyr) | gnomAD v4 |
6 | g.33164950C= | CA1619890609 | COL11A2 | n.571G= c.4765G= (p.Asp1589=) c.4444G= (p.Asp1482=) c.4507G= (p.Asp1503=) n.555G= c.3919G= (p.Asp1307=) c.4051G= (p.Asp1351=) c.3871G= (p.Asp1291=) c.3808G= (p.Asp1270=) c.3652G= (p.Asp1218=) c.3583G= (p.Asp1195=) | |
6 | g.33164950C>G | CA363617832 | COL11A2 | n.571G>C c.4765G>C (p.Asp1589His) c.4444G>C (p.Asp1482His) c.4507G>C (p.Asp1503His) n.555G>C c.3919G>C (p.Asp1307His) c.4051G>C (p.Asp1351His) c.3871G>C (p.Asp1291His) c.3808G>C (p.Asp1270His) c.3652G>C (p.Asp1218His) c.3583G>C (p.Asp1195His) | gnomAD v4 |
6 | g.33164950C>T | CA363617835 | COL11A2 | n.571G>A c.4765G>A (p.Asp1589Asn) c.4444G>A (p.Asp1482Asn) c.4507G>A (p.Asp1503Asn) n.555G>A c.3919G>A (p.Asp1307Asn) c.4051G>A (p.Asp1351Asn) c.3871G>A (p.Asp1291Asn) c.3808G>A (p.Asp1270Asn) c.3652G>A (p.Asp1218Asn) c.3583G>A (p.Asp1195Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164951G>A | CA3749997 | COL11A2 | n.570C>T c.4764C>T (p.Val1588=) c.4443C>T (p.Val1481=) c.4506C>T (p.Val1502=) n.554C>T c.3918C>T (p.Val1306=) c.4050C>T (p.Val1350=) c.3870C>T (p.Val1290=) c.3807C>T (p.Val1269=) c.3651C>T (p.Val1217=) c.3582C>T (p.Val1194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164951G>C | CA449867326 | COL11A2 | n.570C>G c.4764C>G (p.Val1588=) c.4443C>G (p.Val1481=) c.4506C>G (p.Val1502=) n.554C>G c.3918C>G (p.Val1306=) c.4050C>G (p.Val1350=) c.3870C>G (p.Val1290=) c.3807C>G (p.Val1269=) c.3651C>G (p.Val1217=) c.3582C>G (p.Val1194=) | ClinVar gnomAD v4 |
6 | g.33164951G= | CA1619890613 | COL11A2 | n.570C= c.4764C= (p.Val1588=) c.4443C= (p.Val1481=) c.4506C= (p.Val1502=) n.554C= c.3918C= (p.Val1306=) c.4050C= (p.Val1350=) c.3870C= (p.Val1290=) c.3807C= (p.Val1269=) c.3651C= (p.Val1217=) c.3582C= (p.Val1194=) | |
6 | g.33164951G>T | CA449867327 | COL11A2 | n.570C>A c.4764C>A (p.Val1588=) c.4443C>A (p.Val1481=) c.4506C>A (p.Val1502=) n.554C>A c.3918C>A (p.Val1306=) c.4050C>A (p.Val1350=) c.3870C>A (p.Val1290=) c.3807C>A (p.Val1269=) c.3651C>A (p.Val1217=) c.3582C>A (p.Val1194=) | gnomAD v4 |
6 | g.33164952A= | CA1619890619 | COL11A2 | n.569T= c.4763T= (p.Val1588=) c.4442T= (p.Val1481=) c.4505T= (p.Val1502=) n.553T= c.3917T= (p.Val1306=) c.4049T= (p.Val1350=) c.3869T= (p.Val1290=) c.3806T= (p.Val1269=) c.3650T= (p.Val1217=) c.3581T= (p.Val1194=) | |
6 | g.33164952A>C | CA363617843 | COL11A2 | n.569T>G c.4763T>G (p.Val1588Gly) c.4442T>G (p.Val1481Gly) c.4505T>G (p.Val1502Gly) n.553T>G c.3917T>G (p.Val1306Gly) c.4049T>G (p.Val1350Gly) c.3869T>G (p.Val1290Gly) c.3806T>G (p.Val1269Gly) c.3650T>G (p.Val1217Gly) c.3581T>G (p.Val1194Gly) | |
6 | g.33164952A>G | CA363617846 | COL11A2 | n.569T>C c.4763T>C (p.Val1588Ala) c.4442T>C (p.Val1481Ala) c.4505T>C (p.Val1502Ala) n.553T>C c.3917T>C (p.Val1306Ala) c.4049T>C (p.Val1350Ala) c.3869T>C (p.Val1290Ala) c.3806T>C (p.Val1269Ala) c.3650T>C (p.Val1217Ala) c.3581T>C (p.Val1194Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164952A>T | CA363617848 | COL11A2 | n.569T>A c.4763T>A (p.Val1588Asp) c.4442T>A (p.Val1481Asp) c.4505T>A (p.Val1502Asp) n.553T>A c.3917T>A (p.Val1306Asp) c.4049T>A (p.Val1350Asp) c.3869T>A (p.Val1290Asp) c.3806T>A (p.Val1269Asp) c.3650T>A (p.Val1217Asp) c.3581T>A (p.Val1194Asp) | |
6 | g.33164953C>A | CA363617851 | COL11A2 | n.568G>T c.4762G>T (p.Val1588Phe) c.4441G>T (p.Val1481Phe) c.4504G>T (p.Val1502Phe) n.552G>T c.3916G>T (p.Val1306Phe) c.4048G>T (p.Val1350Phe) c.3868G>T (p.Val1290Phe) c.3805G>T (p.Val1269Phe) c.3649G>T (p.Val1217Phe) c.3580G>T (p.Val1194Phe) | gnomAD v4 |
6 | g.33164953C>G | CA363617854 | COL11A2 | n.568G>C c.4762G>C (p.Val1588Leu) c.4441G>C (p.Val1481Leu) c.4504G>C (p.Val1502Leu) n.552G>C c.3916G>C (p.Val1306Leu) c.4048G>C (p.Val1350Leu) c.3868G>C (p.Val1290Leu) c.3805G>C (p.Val1269Leu) c.3649G>C (p.Val1217Leu) c.3580G>C (p.Val1194Leu) | |
6 | g.33164953C>T | CA363617857 | COL11A2 | n.568G>A c.4762G>A (p.Val1588Ile) c.4441G>A (p.Val1481Ile) c.4504G>A (p.Val1502Ile) n.552G>A c.3916G>A (p.Val1306Ile) c.4048G>A (p.Val1350Ile) c.3868G>A (p.Val1290Ile) c.3805G>A (p.Val1269Ile) c.3649G>A (p.Val1217Ile) c.3580G>A (p.Val1194Ile) | |
6 | g.33164955del | CA2678226419 | COL11A2 | n.568del c.4762del (p.Val1588SerfsTer26) c.4441del (p.Val1481SerfsTer26) c.4504del (p.Val1502SerfsTer26) n.552del c.3916del (p.Val1306SerfsTer26) c.4048del (p.Val1350SerfsTer26) c.3868del (p.Val1290SerfsTer26) c.3805del (p.Val1269SerfsTer26) c.3649del (p.Val1217SerfsTer26) c.3580del (p.Val1194SerfsTer26) | gnomAD v4 |
6 | g.33164954C>A | CA363617860 | COL11A2 | n.567G>T c.4761G>T (p.Trp1587Cys) c.4440G>T (p.Trp1480Cys) c.4503G>T (p.Trp1501Cys) n.551G>T c.3915G>T (p.Trp1305Cys) c.4047G>T (p.Trp1349Cys) c.3867G>T (p.Trp1289Cys) c.3804G>T (p.Trp1268Cys) c.3648G>T (p.Trp1216Cys) c.3579G>T (p.Trp1193Cys) | gnomAD v4 |
6 | g.33164954C>G | CA363617863 | COL11A2 | n.567G>C c.4761G>C (p.Trp1587Cys) c.4440G>C (p.Trp1480Cys) c.4503G>C (p.Trp1501Cys) n.551G>C c.3915G>C (p.Trp1305Cys) c.4047G>C (p.Trp1349Cys) c.3867G>C (p.Trp1289Cys) c.3804G>C (p.Trp1268Cys) c.3648G>C (p.Trp1216Cys) c.3579G>C (p.Trp1193Cys) | |
6 | g.33164954C>T | CA363617866 | COL11A2 | n.567G>A c.4761G>A (p.Trp1587Ter) c.4440G>A (p.Trp1480Ter) c.4503G>A (p.Trp1501Ter) n.551G>A c.3915G>A (p.Trp1305Ter) c.4047G>A (p.Trp1349Ter) c.3867G>A (p.Trp1289Ter) c.3804G>A (p.Trp1268Ter) c.3648G>A (p.Trp1216Ter) c.3579G>A (p.Trp1193Ter) | gnomAD v4 |
6 | g.33164955C>A | CA363617872 | COL11A2 | n.566G>T c.4760G>T (p.Trp1587Leu) c.4439G>T (p.Trp1480Leu) c.4502G>T (p.Trp1501Leu) n.550G>T c.3914G>T (p.Trp1305Leu) c.4046G>T (p.Trp1349Leu) c.3866G>T (p.Trp1289Leu) c.3803G>T (p.Trp1268Leu) c.3647G>T (p.Trp1216Leu) c.3578G>T (p.Trp1193Leu) | gnomAD v4 |
6 | g.33164955C= | CA1619890623 | COL11A2 | n.566G= c.4760G= (p.Trp1587=) c.4439G= (p.Trp1480=) c.4502G= (p.Trp1501=) n.550G= c.3914G= (p.Trp1305=) c.4046G= (p.Trp1349=) c.3866G= (p.Trp1289=) c.3803G= (p.Trp1268=) c.3647G= (p.Trp1216=) c.3578G= (p.Trp1193=) | |
6 | g.33164955C>G | CA363617874 | COL11A2 | n.566G>C c.4760G>C (p.Trp1587Ser) c.4439G>C (p.Trp1480Ser) c.4502G>C (p.Trp1501Ser) n.550G>C c.3914G>C (p.Trp1305Ser) c.4046G>C (p.Trp1349Ser) c.3866G>C (p.Trp1289Ser) c.3803G>C (p.Trp1268Ser) c.3647G>C (p.Trp1216Ser) c.3578G>C (p.Trp1193Ser) | |
6 | g.33164955C>T | CA363617869 | COL11A2 | n.566G>A c.4760G>A (p.Trp1587Ter) c.4439G>A (p.Trp1480Ter) c.4502G>A (p.Trp1501Ter) n.550G>A c.3914G>A (p.Trp1305Ter) c.4046G>A (p.Trp1349Ter) c.3866G>A (p.Trp1289Ter) c.3803G>A (p.Trp1268Ter) c.3647G>A (p.Trp1216Ter) c.3578G>A (p.Trp1193Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164956A>C | CA363617878 | COL11A2 | n.565T>G c.4759T>G (p.Trp1587Gly) c.4438T>G (p.Trp1480Gly) c.4501T>G (p.Trp1501Gly) n.549T>G c.3913T>G (p.Trp1305Gly) c.4045T>G (p.Trp1349Gly) c.3865T>G (p.Trp1289Gly) c.3802T>G (p.Trp1268Gly) c.3646T>G (p.Trp1216Gly) c.3577T>G (p.Trp1193Gly) | |
6 | g.33164956A>G | CA363617880 | COL11A2 | n.565T>C c.4759T>C (p.Trp1587Arg) c.4438T>C (p.Trp1480Arg) c.4501T>C (p.Trp1501Arg) n.549T>C c.3913T>C (p.Trp1305Arg) c.4045T>C (p.Trp1349Arg) c.3865T>C (p.Trp1289Arg) c.3802T>C (p.Trp1268Arg) c.3646T>C (p.Trp1216Arg) c.3577T>C (p.Trp1193Arg) | COSMIC |
6 | g.33164956A>T | CA363617883 | COL11A2 | n.565T>A c.4759T>A (p.Trp1587Arg) c.4438T>A (p.Trp1480Arg) c.4501T>A (p.Trp1501Arg) n.549T>A c.3913T>A (p.Trp1305Arg) c.4045T>A (p.Trp1349Arg) c.3865T>A (p.Trp1289Arg) c.3802T>A (p.Trp1268Arg) c.3646T>A (p.Trp1216Arg) c.3577T>A (p.Trp1193Arg) | |
6 | g.33164957G>A | CA449867328 | COL11A2 | n.564C>T c.4758C>T (p.Tyr1586=) c.4437C>T (p.Tyr1479=) c.4500C>T (p.Tyr1500=) n.548C>T c.3912C>T (p.Tyr1304=) c.4044C>T (p.Tyr1348=) c.3864C>T (p.Tyr1288=) c.3801C>T (p.Tyr1267=) c.3645C>T (p.Tyr1215=) c.3576C>T (p.Tyr1192=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164957G>C | CA363617887 | COL11A2 | n.564C>G c.4758C>G (p.Tyr1586Ter) c.4437C>G (p.Tyr1479Ter) c.4500C>G (p.Tyr1500Ter) n.548C>G c.3912C>G (p.Tyr1304Ter) c.4044C>G (p.Tyr1348Ter) c.3864C>G (p.Tyr1288Ter) c.3801C>G (p.Tyr1267Ter) c.3645C>G (p.Tyr1215Ter) c.3576C>G (p.Tyr1192Ter) | ClinVar gnomAD v4 |
6 | g.33164957G= | CA1619890626 | COL11A2 | n.564C= c.4758C= (p.Tyr1586=) c.4437C= (p.Tyr1479=) c.4500C= (p.Tyr1500=) n.548C= c.3912C= (p.Tyr1304=) c.4044C= (p.Tyr1348=) c.3864C= (p.Tyr1288=) c.3801C= (p.Tyr1267=) c.3645C= (p.Tyr1215=) c.3576C= (p.Tyr1192=) | |
6 | g.33164957G>T | CA363617889 | COL11A2 | n.564C>A c.4758C>A (p.Tyr1586Ter) c.4437C>A (p.Tyr1479Ter) c.4500C>A (p.Tyr1500Ter) n.548C>A c.3912C>A (p.Tyr1304Ter) c.4044C>A (p.Tyr1348Ter) c.3864C>A (p.Tyr1288Ter) c.3801C>A (p.Tyr1267Ter) c.3645C>A (p.Tyr1215Ter) c.3576C>A (p.Tyr1192Ter) | |
6 | g.33164958T>A | CA363617898 | COL11A2 | n.563A>T c.4757A>T (p.Tyr1586Phe) c.4436A>T (p.Tyr1479Phe) c.4499A>T (p.Tyr1500Phe) n.547A>T c.3911A>T (p.Tyr1304Phe) c.4043A>T (p.Tyr1348Phe) c.3863A>T (p.Tyr1288Phe) c.3800A>T (p.Tyr1267Phe) c.3644A>T (p.Tyr1215Phe) c.3575A>T (p.Tyr1192Phe) | |
6 | g.33164958T>C | CA363617893 | COL11A2 | n.563A>G c.4757A>G (p.Tyr1586Cys) c.4436A>G (p.Tyr1479Cys) c.4499A>G (p.Tyr1500Cys) n.547A>G c.3911A>G (p.Tyr1304Cys) c.4043A>G (p.Tyr1348Cys) c.3863A>G (p.Tyr1288Cys) c.3800A>G (p.Tyr1267Cys) c.3644A>G (p.Tyr1215Cys) c.3575A>G (p.Tyr1192Cys) | |
6 | g.33164958T>G | CA363617896 | COL11A2 | n.563A>C c.4757A>C (p.Tyr1586Ser) c.4436A>C (p.Tyr1479Ser) c.4499A>C (p.Tyr1500Ser) n.547A>C c.3911A>C (p.Tyr1304Ser) c.4043A>C (p.Tyr1348Ser) c.3863A>C (p.Tyr1288Ser) c.3800A>C (p.Tyr1267Ser) c.3644A>C (p.Tyr1215Ser) c.3575A>C (p.Tyr1192Ser) | |
6 | g.33164959A>C | CA363617902 | COL11A2 | n.562T>G c.4756T>G (p.Tyr1586Asp) c.4435T>G (p.Tyr1479Asp) c.4498T>G (p.Tyr1500Asp) n.546T>G c.3910T>G (p.Tyr1304Asp) c.4042T>G (p.Tyr1348Asp) c.3862T>G (p.Tyr1288Asp) c.3799T>G (p.Tyr1267Asp) c.3643T>G (p.Tyr1215Asp) c.3574T>G (p.Tyr1192Asp) | |
6 | g.33164959A>G | CA363617914 | COL11A2 | n.562T>C c.4756T>C (p.Tyr1586His) c.4435T>C (p.Tyr1479His) c.4498T>C (p.Tyr1500His) n.546T>C c.3910T>C (p.Tyr1304His) c.4042T>C (p.Tyr1348His) c.3862T>C (p.Tyr1288His) c.3799T>C (p.Tyr1267His) c.3643T>C (p.Tyr1215His) c.3574T>C (p.Tyr1192His) | gnomAD v4 |
6 | g.33164959A>T | CA363617917 | COL11A2 | n.562T>A c.4756T>A (p.Tyr1586Asn) c.4435T>A (p.Tyr1479Asn) c.4498T>A (p.Tyr1500Asn) n.546T>A c.3910T>A (p.Tyr1304Asn) c.4042T>A (p.Tyr1348Asn) c.3862T>A (p.Tyr1288Asn) c.3799T>A (p.Tyr1267Asn) c.3643T>A (p.Tyr1215Asn) c.3574T>A (p.Tyr1192Asn) | |
6 | g.33164960C>A | CA3749998 | COL11A2 | n.561G>T c.4755G>T (p.Glu1585Asp) c.4434G>T (p.Glu1478Asp) c.4497G>T (p.Glu1499Asp) n.545G>T c.3909G>T (p.Glu1303Asp) c.4041G>T (p.Glu1347Asp) c.3861G>T (p.Glu1287Asp) c.3798G>T (p.Glu1266Asp) c.3642G>T (p.Glu1214Asp) c.3573G>T (p.Glu1191Asp) | dbSNP ExAC gnomAD v4 |
6 | g.33164960C= | CA1619890630 | COL11A2 | n.561G= c.4755G= (p.Glu1585=) c.4434G= (p.Glu1478=) c.4497G= (p.Glu1499=) n.545G= c.3909G= (p.Glu1303=) c.4041G= (p.Glu1347=) c.3861G= (p.Glu1287=) c.3798G= (p.Glu1266=) c.3642G= (p.Glu1214=) c.3573G= (p.Glu1191=) | |
6 | g.33164960C>G | CA137061756 | COL11A2 | n.561G>C c.4755G>C (p.Glu1585Asp) c.4434G>C (p.Glu1478Asp) c.4497G>C (p.Glu1499Asp) n.545G>C c.3909G>C (p.Glu1303Asp) c.4041G>C (p.Glu1347Asp) c.3861G>C (p.Glu1287Asp) c.3798G>C (p.Glu1266Asp) c.3642G>C (p.Glu1214Asp) c.3573G>C (p.Glu1191Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164960C>T | CA449867329 | COL11A2 | n.561G>A c.4755G>A (p.Glu1585=) c.4434G>A (p.Glu1478=) c.4497G>A (p.Glu1499=) n.545G>A c.3909G>A (p.Glu1303=) c.4041G>A (p.Glu1347=) c.3861G>A (p.Glu1287=) c.3798G>A (p.Glu1266=) c.3642G>A (p.Glu1214=) c.3573G>A (p.Glu1191=) | |
6 | g.33164961T>A | CA363617930 | COL11A2 | n.560A>T c.4754A>T (p.Glu1585Val) c.4433A>T (p.Glu1478Val) c.4496A>T (p.Glu1499Val) n.544A>T c.3908A>T (p.Glu1303Val) c.4040A>T (p.Glu1347Val) c.3860A>T (p.Glu1287Val) c.3797A>T (p.Glu1266Val) c.3641A>T (p.Glu1214Val) c.3572A>T (p.Glu1191Val) | |
6 | g.33164961T>C | CA363617927 | COL11A2 | n.560A>G c.4754A>G (p.Glu1585Gly) c.4433A>G (p.Glu1478Gly) c.4496A>G (p.Glu1499Gly) n.544A>G c.3908A>G (p.Glu1303Gly) c.4040A>G (p.Glu1347Gly) c.3860A>G (p.Glu1287Gly) c.3797A>G (p.Glu1266Gly) c.3641A>G (p.Glu1214Gly) c.3572A>G (p.Glu1191Gly) | |
6 | g.33164961T>G | CA363617924 | COL11A2 | n.560A>C c.4754A>C (p.Glu1585Ala) c.4433A>C (p.Glu1478Ala) c.4496A>C (p.Glu1499Ala) n.544A>C c.3908A>C (p.Glu1303Ala) c.4040A>C (p.Glu1347Ala) c.3860A>C (p.Glu1287Ala) c.3797A>C (p.Glu1266Ala) c.3641A>C (p.Glu1214Ala) c.3572A>C (p.Glu1191Ala) | |
6 | g.33164962C>A | CA363617933 | COL11A2 | n.559G>T c.4753G>T (p.Glu1585Ter) c.4432G>T (p.Glu1478Ter) c.4495G>T (p.Glu1499Ter) n.543G>T c.3907G>T (p.Glu1303Ter) c.4039G>T (p.Glu1347Ter) c.3859G>T (p.Glu1287Ter) c.3796G>T (p.Glu1266Ter) c.3640G>T (p.Glu1214Ter) c.3571G>T (p.Glu1191Ter) | gnomAD v4 |
6 | g.33164962C= | CA1619890639 | COL11A2 | n.559G= c.4753G= (p.Glu1585=) c.4432G= (p.Glu1478=) c.4495G= (p.Glu1499=) n.543G= c.3907G= (p.Glu1303=) c.4039G= (p.Glu1347=) c.3859G= (p.Glu1287=) c.3796G= (p.Glu1266=) c.3640G= (p.Glu1214=) c.3571G= (p.Glu1191=) | |
6 | g.33164962C>G | CA137061758 | COL11A2 | n.559G>C c.4753G>C (p.Glu1585Gln) c.4432G>C (p.Glu1478Gln) c.4495G>C (p.Glu1499Gln) n.543G>C c.3907G>C (p.Glu1303Gln) c.4039G>C (p.Glu1347Gln) c.3859G>C (p.Glu1287Gln) c.3796G>C (p.Glu1266Gln) c.3640G>C (p.Glu1214Gln) c.3571G>C (p.Glu1191Gln) | ClinVar dbSNP |
6 | g.33164962C>T | CA363617939 | COL11A2 | n.559G>A c.4753G>A (p.Glu1585Lys) c.4432G>A (p.Glu1478Lys) c.4495G>A (p.Glu1499Lys) n.543G>A c.3907G>A (p.Glu1303Lys) c.4039G>A (p.Glu1347Lys) c.3859G>A (p.Glu1287Lys) c.3796G>A (p.Glu1266Lys) c.3640G>A (p.Glu1214Lys) c.3571G>A (p.Glu1191Lys) | gnomAD v4 |
6 | g.33164963T>A | CA449867330 | COL11A2 | n.558A>T c.4752A>T (p.Gly1584=) c.4431A>T (p.Gly1477=) c.4494A>T (p.Gly1498=) n.542A>T c.3906A>T (p.Gly1302=) c.4038A>T (p.Gly1346=) c.3858A>T (p.Gly1286=) c.3795A>T (p.Gly1265=) c.3639A>T (p.Gly1213=) c.3570A>T (p.Gly1190=) | ClinVar |
6 | g.33164963T>C | CA449867331 | COL11A2 | n.558A>G c.4752A>G (p.Gly1584=) c.4431A>G (p.Gly1477=) c.4494A>G (p.Gly1498=) n.542A>G c.3906A>G (p.Gly1302=) c.4038A>G (p.Gly1346=) c.3858A>G (p.Gly1286=) c.3795A>G (p.Gly1265=) c.3639A>G (p.Gly1213=) c.3570A>G (p.Gly1190=) | ClinVar dbSNP gnomAD v4 |
6 | g.33164963T>G | CA449867332 | COL11A2 | n.558A>C c.4752A>C (p.Gly1584=) c.4431A>C (p.Gly1477=) c.4494A>C (p.Gly1498=) n.542A>C c.3906A>C (p.Gly1302=) c.4038A>C (p.Gly1346=) c.3858A>C (p.Gly1286=) c.3795A>C (p.Gly1265=) c.3639A>C (p.Gly1213=) c.3570A>C (p.Gly1190=) | |
6 | g.33164963T= | CA1619890641 | COL11A2 | n.558A= c.4752A= (p.Gly1584=) c.4431A= (p.Gly1477=) c.4494A= (p.Gly1498=) n.542A= c.3906A= (p.Gly1302=) c.4038A= (p.Gly1346=) c.3858A= (p.Gly1286=) c.3795A= (p.Gly1265=) c.3639A= (p.Gly1213=) c.3570A= (p.Gly1190=) | |
6 | g.33164964C>A | CA363617942 | COL11A2 | n.557G>T c.4751G>T (p.Gly1584Val) c.4430G>T (p.Gly1477Val) c.4493G>T (p.Gly1498Val) n.541G>T c.3905G>T (p.Gly1302Val) c.4037G>T (p.Gly1346Val) c.3857G>T (p.Gly1286Val) c.3794G>T (p.Gly1265Val) c.3638G>T (p.Gly1213Val) c.3569G>T (p.Gly1190Val) | gnomAD v4 |
6 | g.33164964C>G | CA363617944 | COL11A2 | n.557G>C c.4751G>C (p.Gly1584Ala) c.4430G>C (p.Gly1477Ala) c.4493G>C (p.Gly1498Ala) n.541G>C c.3905G>C (p.Gly1302Ala) c.4037G>C (p.Gly1346Ala) c.3857G>C (p.Gly1286Ala) c.3794G>C (p.Gly1265Ala) c.3638G>C (p.Gly1213Ala) c.3569G>C (p.Gly1190Ala) | |
6 | g.33164964C>T | CA363617945 | COL11A2 | n.557G>A c.4751G>A (p.Gly1584Glu) c.4430G>A (p.Gly1477Glu) c.4493G>A (p.Gly1498Glu) n.541G>A c.3905G>A (p.Gly1302Glu) c.4037G>A (p.Gly1346Glu) c.3857G>A (p.Gly1286Glu) c.3794G>A (p.Gly1265Glu) c.3638G>A (p.Gly1213Glu) c.3569G>A (p.Gly1190Glu) | gnomAD v4 |
6 | g.33164965C>A | CA363617949 | COL11A2 | n.557-1G>T c.4751-1G>T (n.4751-1G>T) c.4430-1G>T (n.4430-1G>T) c.4493-1G>T (n.4493-1G>T) n.541-1G>T c.3905-1G>T (n.3905-1G>T) c.4037-1G>T (n.4037-1G>T) c.3857-1G>T (n.3857-1G>T) c.3794-1G>T (n.3794-1G>T) c.3638-1G>T (n.3638-1G>T) c.3569-1G>T (n.3569-1G>T) | gnomAD v4 |
6 | g.33164965C= | CA1619890644 | COL11A2 | n.557-1G= c.4751-1G= (n.4751-1G=) c.4430-1G= (n.4430-1G=) c.4493-1G= (n.4493-1G=) n.541-1G= c.3905-1G= (n.3905-1G=) c.4037-1G= (n.4037-1G=) c.3857-1G= (n.3857-1G=) c.3794-1G= (n.3794-1G=) c.3638-1G= (n.3638-1G=) c.3569-1G= (n.3569-1G=) | |
6 | g.33164965C>G | CA363617950 | COL11A2 | n.557-1G>C c.4751-1G>C (n.4751-1G>C) c.4430-1G>C (n.4430-1G>C) c.4493-1G>C (n.4493-1G>C) n.541-1G>C c.3905-1G>C (n.3905-1G>C) c.4037-1G>C (n.4037-1G>C) c.3857-1G>C (n.3857-1G>C) c.3794-1G>C (n.3794-1G>C) c.3638-1G>C (n.3638-1G>C) c.3569-1G>C (n.3569-1G>C) | |
6 | g.33164965C>T | CA363617953 | COL11A2 | n.557-1G>A c.4751-1G>A (n.4751-1G>A) c.4430-1G>A (n.4430-1G>A) c.4493-1G>A (n.4493-1G>A) n.541-1G>A c.3905-1G>A (n.3905-1G>A) c.4037-1G>A (n.4037-1G>A) c.3857-1G>A (n.3857-1G>A) c.3794-1G>A (n.3794-1G>A) c.3638-1G>A (n.3638-1G>A) c.3569-1G>A (n.3569-1G>A) | dbSNP |
6 | g.33164966T>A | CA363617955 | COL11A2 | n.557-2A>T c.4751-2A>T (n.4751-2A>T) c.4430-2A>T (n.4430-2A>T) c.4493-2A>T (n.4493-2A>T) n.541-2A>T c.3905-2A>T (n.3905-2A>T) c.4037-2A>T (n.4037-2A>T) c.3857-2A>T (n.3857-2A>T) c.3794-2A>T (n.3794-2A>T) c.3638-2A>T (n.3638-2A>T) c.3569-2A>T (n.3569-2A>T) | |
6 | g.33164966T>C | CA363617958 | COL11A2 | n.557-2A>G c.4751-2A>G (n.4751-2A>G) c.4430-2A>G (n.4430-2A>G) c.4493-2A>G (n.4493-2A>G) n.541-2A>G c.3905-2A>G (n.3905-2A>G) c.4037-2A>G (n.4037-2A>G) c.3857-2A>G (n.3857-2A>G) c.3794-2A>G (n.3794-2A>G) c.3638-2A>G (n.3638-2A>G) c.3569-2A>G (n.3569-2A>G) | gnomAD v4 |
6 | g.33164966T>G | CA363617960 | COL11A2 | n.557-2A>C c.4751-2A>C (n.4751-2A>C) c.4430-2A>C (n.4430-2A>C) c.4493-2A>C (n.4493-2A>C) n.541-2A>C c.3905-2A>C (n.3905-2A>C) c.4037-2A>C (n.4037-2A>C) c.3857-2A>C (n.3857-2A>C) c.3794-2A>C (n.3794-2A>C) c.3638-2A>C (n.3638-2A>C) c.3569-2A>C (n.3569-2A>C) | |
6 | g.33164967G>A | CA566424999 | COL11A2 | n.557-3C>T c.4751-3C>T (n.4751-3C>T) c.4430-3C>T (n.4430-3C>T) c.4493-3C>T (n.4493-3C>T) n.541-3C>T c.3905-3C>T (n.3905-3C>T) c.4037-3C>T (n.4037-3C>T) c.3857-3C>T (n.3857-3C>T) c.3794-3C>T (n.3794-3C>T) c.3638-3C>T (n.3638-3C>T) c.3569-3C>T (n.3569-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164967G= | CA1619890646 | COL11A2 | n.557-3C= c.4751-3C= (n.4751-3C=) c.4430-3C= (n.4430-3C=) c.4493-3C= (n.4493-3C=) n.541-3C= c.3905-3C= (n.3905-3C=) c.4037-3C= (n.4037-3C=) c.3857-3C= (n.3857-3C=) c.3794-3C= (n.3794-3C=) c.3638-3C= (n.3638-3C=) c.3569-3C= (n.3569-3C=) | |
6 | g.33164967G>T | CA2678226454 | COL11A2 | n.557-3C>A c.4751-3C>A (n.4751-3C>A) c.4430-3C>A (n.4430-3C>A) c.4493-3C>A (n.4493-3C>A) n.541-3C>A c.3905-3C>A (n.3905-3C>A) c.4037-3C>A (n.4037-3C>A) c.3857-3C>A (n.3857-3C>A) c.3794-3C>A (n.3794-3C>A) c.3638-3C>A (n.3638-3C>A) c.3569-3C>A (n.3569-3C>A) | gnomAD v4 |
6 | g.33164968T>C | CA566425000 | COL11A2 | n.557-4A>G c.4751-4A>G (n.4751-4A>G) c.4430-4A>G (n.4430-4A>G) c.4493-4A>G (n.4493-4A>G) n.541-4A>G c.3905-4A>G (n.3905-4A>G) c.4037-4A>G (n.4037-4A>G) c.3857-4A>G (n.3857-4A>G) c.3794-4A>G (n.3794-4A>G) c.3638-4A>G (n.3638-4A>G) c.3569-4A>G (n.3569-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164968T= | CA1619890650 | COL11A2 | n.557-4A= c.4751-4A= (n.4751-4A=) c.4430-4A= (n.4430-4A=) c.4493-4A= (n.4493-4A=) n.541-4A= c.3905-4A= (n.3905-4A=) c.4037-4A= (n.4037-4A=) c.3857-4A= (n.3857-4A=) c.3794-4A= (n.3794-4A=) c.3638-4A= (n.3638-4A=) c.3569-4A= (n.3569-4A=) | |
6 | g.33164969T>G | CA1087647783 | COL11A2 | n.557-5A>C c.4751-5A>C (n.4751-5A>C) c.4430-5A>C (n.4430-5A>C) c.4493-5A>C (n.4493-5A>C) n.541-5A>C c.3905-5A>C (n.3905-5A>C) c.4037-5A>C (n.4037-5A>C) c.3857-5A>C (n.3857-5A>C) c.3794-5A>C (n.3794-5A>C) c.3638-5A>C (n.3638-5A>C) c.3569-5A>C (n.3569-5A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164969T= | CA1619890652 | COL11A2 | n.557-5A= c.4751-5A= (n.4751-5A=) c.4430-5A= (n.4430-5A=) c.4493-5A= (n.4493-5A=) n.541-5A= c.3905-5A= (n.3905-5A=) c.4037-5A= (n.4037-5A=) c.3857-5A= (n.3857-5A=) c.3794-5A= (n.3794-5A=) c.3638-5A= (n.3638-5A=) c.3569-5A= (n.3569-5A=) | |
6 | g.33164970G>A | CA566425001 | COL11A2 | n.557-6C>T c.4751-6C>T (n.4751-6C>T) c.4430-6C>T (n.4430-6C>T) c.4493-6C>T (n.4493-6C>T) n.541-6C>T c.3905-6C>T (n.3905-6C>T) c.4037-6C>T (n.4037-6C>T) c.3857-6C>T (n.3857-6C>T) c.3794-6C>T (n.3794-6C>T) c.3638-6C>T (n.3638-6C>T) c.3569-6C>T (n.3569-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164970G= | CA1619890654 | COL11A2 | n.557-6C= c.4751-6C= (n.4751-6C=) c.4430-6C= (n.4430-6C=) c.4493-6C= (n.4493-6C=) n.541-6C= c.3905-6C= (n.3905-6C=) c.4037-6C= (n.4037-6C=) c.3857-6C= (n.3857-6C=) c.3794-6C= (n.3794-6C=) c.3638-6C= (n.3638-6C=) c.3569-6C= (n.3569-6C=) | |
6 | g.33164970G>T | CA2678226458 | COL11A2 | n.557-6C>A c.4751-6C>A (n.4751-6C>A) c.4430-6C>A (n.4430-6C>A) c.4493-6C>A (n.4493-6C>A) n.541-6C>A c.3905-6C>A (n.3905-6C>A) c.4037-6C>A (n.4037-6C>A) c.3857-6C>A (n.3857-6C>A) c.3794-6C>A (n.3794-6C>A) c.3638-6C>A (n.3638-6C>A) c.3569-6C>A (n.3569-6C>A) | gnomAD v4 |
6 | g.33164971G>A | CA137061761 | COL11A2 | n.557-7C>T c.4751-7C>T (n.4751-7C>T) c.4430-7C>T (n.4430-7C>T) c.4493-7C>T (n.4493-7C>T) n.541-7C>T c.3905-7C>T (n.3905-7C>T) c.4037-7C>T (n.4037-7C>T) c.3857-7C>T (n.3857-7C>T) c.3794-7C>T (n.3794-7C>T) c.3638-7C>T (n.3638-7C>T) c.3569-7C>T (n.3569-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164971G= | CA1619890656 | COL11A2 | n.557-7C= c.4751-7C= (n.4751-7C=) c.4430-7C= (n.4430-7C=) c.4493-7C= (n.4493-7C=) n.541-7C= c.3905-7C= (n.3905-7C=) c.4037-7C= (n.4037-7C=) c.3857-7C= (n.3857-7C=) c.3794-7C= (n.3794-7C=) c.3638-7C= (n.3638-7C=) c.3569-7C= (n.3569-7C=) | |
6 | g.33164971G>T | CA2678226467 | COL11A2 | n.557-7C>A c.4751-7C>A (n.4751-7C>A) c.4430-7C>A (n.4430-7C>A) c.4493-7C>A (n.4493-7C>A) n.541-7C>A c.3905-7C>A (n.3905-7C>A) c.4037-7C>A (n.4037-7C>A) c.3857-7C>A (n.3857-7C>A) c.3794-7C>A (n.3794-7C>A) c.3638-7C>A (n.3638-7C>A) c.3569-7C>A (n.3569-7C>A) | gnomAD v4 |
6 | g.33164972G>A | CA2678226472 | COL11A2 | n.557-8C>T c.4751-8C>T (n.4751-8C>T) c.4430-8C>T (n.4430-8C>T) c.4493-8C>T (n.4493-8C>T) n.541-8C>T c.3905-8C>T (n.3905-8C>T) c.4037-8C>T (n.4037-8C>T) c.3857-8C>T (n.3857-8C>T) c.3794-8C>T (n.3794-8C>T) c.3638-8C>T (n.3638-8C>T) c.3569-8C>T (n.3569-8C>T) | gnomAD v4 |
6 | g.33164972G= | CA1619890659 | COL11A2 | n.557-8C= c.4751-8C= (n.4751-8C=) c.4430-8C= (n.4430-8C=) c.4493-8C= (n.4493-8C=) n.541-8C= c.3905-8C= (n.3905-8C=) c.4037-8C= (n.4037-8C=) c.3857-8C= (n.3857-8C=) c.3794-8C= (n.3794-8C=) c.3638-8C= (n.3638-8C=) c.3569-8C= (n.3569-8C=) | |
6 | g.33164972G>T | CA566425002 | COL11A2 | n.557-8C>A c.4751-8C>A (n.4751-8C>A) c.4430-8C>A (n.4430-8C>A) c.4493-8C>A (n.4493-8C>A) n.541-8C>A c.3905-8C>A (n.3905-8C>A) c.4037-8C>A (n.4037-8C>A) c.3857-8C>A (n.3857-8C>A) c.3794-8C>A (n.3794-8C>A) c.3638-8C>A (n.3638-8C>A) c.3569-8C>A (n.3569-8C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164973T>C | CA3749999 | COL11A2 | n.557-9A>G c.4751-9A>G (n.4751-9A>G) c.4430-9A>G (n.4430-9A>G) c.4493-9A>G (n.4493-9A>G) n.541-9A>G c.3905-9A>G (n.3905-9A>G) c.4037-9A>G (n.4037-9A>G) c.3857-9A>G (n.3857-9A>G) c.3794-9A>G (n.3794-9A>G) c.3638-9A>G (n.3638-9A>G) c.3569-9A>G (n.3569-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164973T>G | CA2739273024 | COL11A2 | n.557-9A>C c.4751-9A>C (n.4751-9A>C) c.4430-9A>C (n.4430-9A>C) c.4493-9A>C (n.4493-9A>C) n.541-9A>C c.3905-9A>C (n.3905-9A>C) c.4037-9A>C (n.4037-9A>C) c.3857-9A>C (n.3857-9A>C) c.3794-9A>C (n.3794-9A>C) c.3638-9A>C (n.3638-9A>C) c.3569-9A>C (n.3569-9A>C) | ClinVar |
6 | g.33164973T= | CA1619890663 | COL11A2 | n.557-9A= c.4751-9A= (n.4751-9A=) c.4430-9A= (n.4430-9A=) c.4493-9A= (n.4493-9A=) n.541-9A= c.3905-9A= (n.3905-9A=) c.4037-9A= (n.4037-9A=) c.3857-9A= (n.3857-9A=) c.3794-9A= (n.3794-9A=) c.3638-9A= (n.3638-9A=) c.3569-9A= (n.3569-9A=) | |
6 | g.33164974G>T | CA2678226477 | COL11A2 | n.557-10C>A c.4751-10C>A (n.4751-10C>A) c.4430-10C>A (n.4430-10C>A) c.4493-10C>A (n.4493-10C>A) n.541-10C>A c.3905-10C>A (n.3905-10C>A) c.4037-10C>A (n.4037-10C>A) c.3857-10C>A (n.3857-10C>A) c.3794-10C>A (n.3794-10C>A) c.3638-10C>A (n.3638-10C>A) c.3569-10C>A (n.3569-10C>A) | gnomAD v4 |
6 | g.33164975A>G | CA2678226479 | COL11A2 | n.557-11T>C c.4751-11T>C (n.4751-11T>C) c.4430-11T>C (n.4430-11T>C) c.4493-11T>C (n.4493-11T>C) n.541-11T>C c.3905-11T>C (n.3905-11T>C) c.4037-11T>C (n.4037-11T>C) c.3857-11T>C (n.3857-11T>C) c.3794-11T>C (n.3794-11T>C) c.3638-11T>C (n.3638-11T>C) c.3569-11T>C (n.3569-11T>C) | gnomAD v4 |
6 | g.33164975A>T | CA2678226480 | COL11A2 | n.557-11T>A c.4751-11T>A (n.4751-11T>A) c.4430-11T>A (n.4430-11T>A) c.4493-11T>A (n.4493-11T>A) n.541-11T>A c.3905-11T>A (n.3905-11T>A) c.4037-11T>A (n.4037-11T>A) c.3857-11T>A (n.3857-11T>A) c.3794-11T>A (n.3794-11T>A) c.3638-11T>A (n.3638-11T>A) c.3569-11T>A (n.3569-11T>A) | gnomAD v4 |
6 | g.33164976G>A | CA2678226481 | COL11A2 | n.557-12C>T c.4751-12C>T (n.4751-12C>T) c.4430-12C>T (n.4430-12C>T) c.4493-12C>T (n.4493-12C>T) n.541-12C>T c.3905-12C>T (n.3905-12C>T) c.4037-12C>T (n.4037-12C>T) c.3857-12C>T (n.3857-12C>T) c.3794-12C>T (n.3794-12C>T) c.3638-12C>T (n.3638-12C>T) c.3569-12C>T (n.3569-12C>T) | gnomAD v4 |
6 | g.33164976G>C | CA137061766 | COL11A2 | n.557-12C>G c.4751-12C>G (n.4751-12C>G) c.4430-12C>G (n.4430-12C>G) c.4493-12C>G (n.4493-12C>G) n.541-12C>G c.3905-12C>G (n.3905-12C>G) c.4037-12C>G (n.4037-12C>G) c.3857-12C>G (n.3857-12C>G) c.3794-12C>G (n.3794-12C>G) c.3638-12C>G (n.3638-12C>G) c.3569-12C>G (n.3569-12C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164976G= | CA1619890671 | COL11A2 | n.557-12C= c.4751-12C= (n.4751-12C=) c.4430-12C= (n.4430-12C=) c.4493-12C= (n.4493-12C=) n.541-12C= c.3905-12C= (n.3905-12C=) c.4037-12C= (n.4037-12C=) c.3857-12C= (n.3857-12C=) c.3794-12C= (n.3794-12C=) c.3638-12C= (n.3638-12C=) c.3569-12C= (n.3569-12C=) | |
6 | g.33164976G>T | CA2678226482 | COL11A2 | n.557-12C>A c.4751-12C>A (n.4751-12C>A) c.4430-12C>A (n.4430-12C>A) c.4493-12C>A (n.4493-12C>A) n.541-12C>A c.3905-12C>A (n.3905-12C>A) c.4037-12C>A (n.4037-12C>A) c.3857-12C>A (n.3857-12C>A) c.3794-12C>A (n.3794-12C>A) c.3638-12C>A (n.3638-12C>A) c.3569-12C>A (n.3569-12C>A) | gnomAD v4 |
6 | g.33164977G>A | CA566425003 | COL11A2 | n.557-13C>T c.4751-13C>T (n.4751-13C>T) c.4430-13C>T (n.4430-13C>T) c.4493-13C>T (n.4493-13C>T) n.541-13C>T c.3905-13C>T (n.3905-13C>T) c.4037-13C>T (n.4037-13C>T) c.3857-13C>T (n.3857-13C>T) c.3794-13C>T (n.3794-13C>T) c.3638-13C>T (n.3638-13C>T) c.3569-13C>T (n.3569-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164977G= | CA1619890677 | COL11A2 | n.557-13C= c.4751-13C= (n.4751-13C=) c.4430-13C= (n.4430-13C=) c.4493-13C= (n.4493-13C=) n.541-13C= c.3905-13C= (n.3905-13C=) c.4037-13C= (n.4037-13C=) c.3857-13C= (n.3857-13C=) c.3794-13C= (n.3794-13C=) c.3638-13C= (n.3638-13C=) c.3569-13C= (n.3569-13C=) | |
6 | g.33164977G>T | CA2678226488 | COL11A2 | n.557-13C>A c.4751-13C>A (n.4751-13C>A) c.4430-13C>A (n.4430-13C>A) c.4493-13C>A (n.4493-13C>A) n.541-13C>A c.3905-13C>A (n.3905-13C>A) c.4037-13C>A (n.4037-13C>A) c.3857-13C>A (n.3857-13C>A) c.3794-13C>A (n.3794-13C>A) c.3638-13C>A (n.3638-13C>A) c.3569-13C>A (n.3569-13C>A) | gnomAD v4 |
6 | g.33164978G>A | CA3750000 | COL11A2 | n.557-14C>T c.4751-14C>T (n.4751-14C>T) c.4430-14C>T (n.4430-14C>T) c.4493-14C>T (n.4493-14C>T) n.541-14C>T c.3905-14C>T (n.3905-14C>T) c.4037-14C>T (n.4037-14C>T) c.3857-14C>T (n.3857-14C>T) c.3794-14C>T (n.3794-14C>T) c.3638-14C>T (n.3638-14C>T) c.3569-14C>T (n.3569-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164978G>C | CA2678226495 | COL11A2 | n.557-14C>G c.4751-14C>G (n.4751-14C>G) c.4430-14C>G (n.4430-14C>G) c.4493-14C>G (n.4493-14C>G) n.541-14C>G c.3905-14C>G (n.3905-14C>G) c.4037-14C>G (n.4037-14C>G) c.3857-14C>G (n.3857-14C>G) c.3794-14C>G (n.3794-14C>G) c.3638-14C>G (n.3638-14C>G) c.3569-14C>G (n.3569-14C>G) | gnomAD v4 |
6 | g.33164978G= | CA1619890680 | COL11A2 | n.557-14C= c.4751-14C= (n.4751-14C=) c.4430-14C= (n.4430-14C=) c.4493-14C= (n.4493-14C=) n.541-14C= c.3905-14C= (n.3905-14C=) c.4037-14C= (n.4037-14C=) c.3857-14C= (n.3857-14C=) c.3794-14C= (n.3794-14C=) c.3638-14C= (n.3638-14C=) c.3569-14C= (n.3569-14C=) | |
6 | g.33164978G>T | CA2678226494 | COL11A2 | n.557-14C>A c.4751-14C>A (n.4751-14C>A) c.4430-14C>A (n.4430-14C>A) c.4493-14C>A (n.4493-14C>A) n.541-14C>A c.3905-14C>A (n.3905-14C>A) c.4037-14C>A (n.4037-14C>A) c.3857-14C>A (n.3857-14C>A) c.3794-14C>A (n.3794-14C>A) c.3638-14C>A (n.3638-14C>A) c.3569-14C>A (n.3569-14C>A) | gnomAD v4 |
6 | g.33164979A= | CA1619890682 | COL11A2 | n.557-15T= c.4751-15T= (n.4751-15T=) c.4430-15T= (n.4430-15T=) c.4493-15T= (n.4493-15T=) n.541-15T= c.3905-15T= (n.3905-15T=) c.4037-15T= (n.4037-15T=) c.3857-15T= (n.3857-15T=) c.3794-15T= (n.3794-15T=) c.3638-15T= (n.3638-15T=) c.3569-15T= (n.3569-15T=) | |
6 | g.33164979A>G | CA2678226499 | COL11A2 | n.557-15T>C c.4751-15T>C (n.4751-15T>C) c.4430-15T>C (n.4430-15T>C) c.4493-15T>C (n.4493-15T>C) n.541-15T>C c.3905-15T>C (n.3905-15T>C) c.4037-15T>C (n.4037-15T>C) c.3857-15T>C (n.3857-15T>C) c.3794-15T>C (n.3794-15T>C) c.3638-15T>C (n.3638-15T>C) c.3569-15T>C (n.3569-15T>C) | gnomAD v4 |
6 | g.33164980G>A | CA566425004 | COL11A2 | n.557-16C>T c.4751-16C>T (n.4751-16C>T) c.4430-16C>T (n.4430-16C>T) c.4493-16C>T (n.4493-16C>T) n.541-16C>T c.3905-16C>T (n.3905-16C>T) c.4037-16C>T (n.4037-16C>T) c.3857-16C>T (n.3857-16C>T) c.3794-16C>T (n.3794-16C>T) c.3638-16C>T (n.3638-16C>T) c.3569-16C>T (n.3569-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164980G= | CA1619890686 | COL11A2 | n.557-16C= c.4751-16C= (n.4751-16C=) c.4430-16C= (n.4430-16C=) c.4493-16C= (n.4493-16C=) n.541-16C= c.3905-16C= (n.3905-16C=) c.4037-16C= (n.4037-16C=) c.3857-16C= (n.3857-16C=) c.3794-16C= (n.3794-16C=) c.3638-16C= (n.3638-16C=) c.3569-16C= (n.3569-16C=) | |
6 | g.33164980G>T | CA2678226502 | COL11A2 | n.557-16C>A c.4751-16C>A (n.4751-16C>A) c.4430-16C>A (n.4430-16C>A) c.4493-16C>A (n.4493-16C>A) n.541-16C>A c.3905-16C>A (n.3905-16C>A) c.4037-16C>A (n.4037-16C>A) c.3857-16C>A (n.3857-16C>A) c.3794-16C>A (n.3794-16C>A) c.3638-16C>A (n.3638-16C>A) c.3569-16C>A (n.3569-16C>A) | gnomAD v4 |
6 | g.33164980dup | CA137061777 | COL11A2 | n.557-16dup c.4751-16dup (n.4751-16dup) c.4430-16dup (n.4430-16dup) c.4493-16dup (n.4493-16dup) n.541-16dup c.3905-16dup (n.3905-16dup) c.4037-16dup (n.4037-16dup) c.3857-16dup (n.3857-16dup) c.3794-16dup (n.3794-16dup) c.3638-16dup (n.3638-16dup) c.3569-16dup (n.3569-16dup) | dbSNP |
6 | g.33164981del | CA2578581111 | COL11A2 | n.557-17del c.4751-17del (n.4751-17del) c.4430-17del (n.4430-17del) c.4493-17del (n.4493-17del) n.541-17del c.3905-17del (n.3905-17del) c.4037-17del (n.4037-17del) c.3857-17del (n.3857-17del) c.3794-17del (n.3794-17del) c.3638-17del (n.3638-17del) c.3569-17del (n.3569-17del) | gnomAD v4 |
6 | g.33164981A>G | CA2678226510 | COL11A2 | n.557-17T>C c.4751-17T>C (n.4751-17T>C) c.4430-17T>C (n.4430-17T>C) c.4493-17T>C (n.4493-17T>C) n.541-17T>C c.3905-17T>C (n.3905-17T>C) c.4037-17T>C (n.4037-17T>C) c.3857-17T>C (n.3857-17T>C) c.3794-17T>C (n.3794-17T>C) c.3638-17T>C (n.3638-17T>C) c.3569-17T>C (n.3569-17T>C) | gnomAD v4 |
6 | g.33164982G>A | CA2678226515 | COL11A2 | n.557-18C>T c.4751-18C>T (n.4751-18C>T) c.4430-18C>T (n.4430-18C>T) c.4493-18C>T (n.4493-18C>T) n.541-18C>T c.3905-18C>T (n.3905-18C>T) c.4037-18C>T (n.4037-18C>T) c.3857-18C>T (n.3857-18C>T) c.3794-18C>T (n.3794-18C>T) c.3638-18C>T (n.3638-18C>T) c.3569-18C>T (n.3569-18C>T) | gnomAD v4 |
6 | g.33164982G>C | CA2578581112 | COL11A2 | n.557-18C>G c.4751-18C>G (n.4751-18C>G) c.4430-18C>G (n.4430-18C>G) c.4493-18C>G (n.4493-18C>G) n.541-18C>G c.3905-18C>G (n.3905-18C>G) c.4037-18C>G (n.4037-18C>G) c.3857-18C>G (n.3857-18C>G) c.3794-18C>G (n.3794-18C>G) c.3638-18C>G (n.3638-18C>G) c.3569-18C>G (n.3569-18C>G) | |
6 | g.33164982G= | CA1619890689 | COL11A2 | n.557-18C= c.4751-18C= (n.4751-18C=) c.4430-18C= (n.4430-18C=) c.4493-18C= (n.4493-18C=) n.541-18C= c.3905-18C= (n.3905-18C=) c.4037-18C= (n.4037-18C=) c.3857-18C= (n.3857-18C=) c.3794-18C= (n.3794-18C=) c.3638-18C= (n.3638-18C=) c.3569-18C= (n.3569-18C=) | |
6 | g.33164982G>T | CA1619890691 | COL11A2 | n.557-18C>A c.4751-18C>A (n.4751-18C>A) c.4430-18C>A (n.4430-18C>A) c.4493-18C>A (n.4493-18C>A) n.541-18C>A c.3905-18C>A (n.3905-18C>A) c.4037-18C>A (n.4037-18C>A) c.3857-18C>A (n.3857-18C>A) c.3794-18C>A (n.3794-18C>A) c.3638-18C>A (n.3638-18C>A) c.3569-18C>A (n.3569-18C>A) | dbSNP gnomAD v4 |
6 | g.33164983G>C | CA2678226521 | COL11A2 | n.557-19C>G c.4751-19C>G (n.4751-19C>G) c.4430-19C>G (n.4430-19C>G) c.4493-19C>G (n.4493-19C>G) n.541-19C>G c.3905-19C>G (n.3905-19C>G) c.4037-19C>G (n.4037-19C>G) c.3857-19C>G (n.3857-19C>G) c.3794-19C>G (n.3794-19C>G) c.3638-19C>G (n.3638-19C>G) c.3569-19C>G (n.3569-19C>G) | gnomAD v4 |
6 | g.33164983G>T | CA2678226518 | COL11A2 | n.557-19C>A c.4751-19C>A (n.4751-19C>A) c.4430-19C>A (n.4430-19C>A) c.4493-19C>A (n.4493-19C>A) n.541-19C>A c.3905-19C>A (n.3905-19C>A) c.4037-19C>A (n.4037-19C>A) c.3857-19C>A (n.3857-19C>A) c.3794-19C>A (n.3794-19C>A) c.3638-19C>A (n.3638-19C>A) c.3569-19C>A (n.3569-19C>A) | gnomAD v4 |
6 | g.33164984G>A | CA2678226524 | COL11A2 | n.557-20C>T c.4751-20C>T (n.4751-20C>T) c.4430-20C>T (n.4430-20C>T) c.4493-20C>T (n.4493-20C>T) n.541-20C>T c.3905-20C>T (n.3905-20C>T) c.4037-20C>T (n.4037-20C>T) c.3857-20C>T (n.3857-20C>T) c.3794-20C>T (n.3794-20C>T) c.3638-20C>T (n.3638-20C>T) c.3569-20C>T (n.3569-20C>T) | gnomAD v4 |
6 | g.33164984G>T | CA2678226525 | COL11A2 | n.557-20C>A c.4751-20C>A (n.4751-20C>A) c.4430-20C>A (n.4430-20C>A) c.4493-20C>A (n.4493-20C>A) n.541-20C>A c.3905-20C>A (n.3905-20C>A) c.4037-20C>A (n.4037-20C>A) c.3857-20C>A (n.3857-20C>A) c.3794-20C>A (n.3794-20C>A) c.3638-20C>A (n.3638-20C>A) c.3569-20C>A (n.3569-20C>A) | gnomAD v4 |
6 | g.33164985G>A | CA3750001 | COL11A2 | n.557-21C>T c.4751-21C>T (n.4751-21C>T) c.4430-21C>T (n.4430-21C>T) c.4493-21C>T (n.4493-21C>T) n.541-21C>T c.3905-21C>T (n.3905-21C>T) c.4037-21C>T (n.4037-21C>T) c.3857-21C>T (n.3857-21C>T) c.3794-21C>T (n.3794-21C>T) c.3638-21C>T (n.3638-21C>T) c.3569-21C>T (n.3569-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164985G= | CA1619890692 | COL11A2 | n.557-21C= c.4751-21C= (n.4751-21C=) c.4430-21C= (n.4430-21C=) c.4493-21C= (n.4493-21C=) n.541-21C= c.3905-21C= (n.3905-21C=) c.4037-21C= (n.4037-21C=) c.3857-21C= (n.3857-21C=) c.3794-21C= (n.3794-21C=) c.3638-21C= (n.3638-21C=) c.3569-21C= (n.3569-21C=) | |
6 | g.33164986A>C | CA2539539469 | COL11A2 | n.557-22T>G c.4751-22T>G (n.4751-22T>G) c.4430-22T>G (n.4430-22T>G) c.4493-22T>G (n.4493-22T>G) n.541-22T>G c.3905-22T>G (n.3905-22T>G) c.4037-22T>G (n.4037-22T>G) c.3857-22T>G (n.3857-22T>G) c.3794-22T>G (n.3794-22T>G) c.3638-22T>G (n.3638-22T>G) c.3569-22T>G (n.3569-22T>G) | |
6 | g.33164987G>A | CA566425005 | COL11A2 | n.557-23C>T c.4751-23C>T (n.4751-23C>T) c.4430-23C>T (n.4430-23C>T) c.4493-23C>T (n.4493-23C>T) n.541-23C>T c.3905-23C>T (n.3905-23C>T) c.4037-23C>T (n.4037-23C>T) c.3857-23C>T (n.3857-23C>T) c.3794-23C>T (n.3794-23C>T) c.3638-23C>T (n.3638-23C>T) c.3569-23C>T (n.3569-23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164987G= | CA1619890694 | COL11A2 | n.557-23C= c.4751-23C= (n.4751-23C=) c.4430-23C= (n.4430-23C=) c.4493-23C= (n.4493-23C=) n.541-23C= c.3905-23C= (n.3905-23C=) c.4037-23C= (n.4037-23C=) c.3857-23C= (n.3857-23C=) c.3794-23C= (n.3794-23C=) c.3638-23C= (n.3638-23C=) c.3569-23C= (n.3569-23C=) | |
6 | g.33164987G>T | CA2678226530 | COL11A2 | n.557-23C>A c.4751-23C>A (n.4751-23C>A) c.4430-23C>A (n.4430-23C>A) c.4493-23C>A (n.4493-23C>A) n.541-23C>A c.3905-23C>A (n.3905-23C>A) c.4037-23C>A (n.4037-23C>A) c.3857-23C>A (n.3857-23C>A) c.3794-23C>A (n.3794-23C>A) c.3638-23C>A (n.3638-23C>A) c.3569-23C>A (n.3569-23C>A) | gnomAD v4 |
6 | g.33164988G>A | CA3750002 | COL11A2 | n.557-24C>T c.4751-24C>T (n.4751-24C>T) c.4430-24C>T (n.4430-24C>T) c.4493-24C>T (n.4493-24C>T) n.541-24C>T c.3905-24C>T (n.3905-24C>T) c.4037-24C>T (n.4037-24C>T) c.3857-24C>T (n.3857-24C>T) c.3794-24C>T (n.3794-24C>T) c.3638-24C>T (n.3638-24C>T) c.3569-24C>T (n.3569-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164988G= | CA1619890696 | COL11A2 | n.557-24C= c.4751-24C= (n.4751-24C=) c.4430-24C= (n.4430-24C=) c.4493-24C= (n.4493-24C=) n.541-24C= c.3905-24C= (n.3905-24C=) c.4037-24C= (n.4037-24C=) c.3857-24C= (n.3857-24C=) c.3794-24C= (n.3794-24C=) c.3638-24C= (n.3638-24C=) c.3569-24C= (n.3569-24C=) | |
6 | g.33164990C>T | CA2678226533 | COL11A2 | n.557-26G>A c.4751-26G>A (n.4751-26G>A) c.4430-26G>A (n.4430-26G>A) c.4493-26G>A (n.4493-26G>A) n.541-26G>A c.3905-26G>A (n.3905-26G>A) c.4037-26G>A (n.4037-26G>A) c.3857-26G>A (n.3857-26G>A) c.3794-26G>A (n.3794-26G>A) c.3638-26G>A (n.3638-26G>A) c.3569-26G>A (n.3569-26G>A) | gnomAD v4 |
6 | g.33164991del | CA2578581113 | COL11A2 | n.557-27del c.4751-27del (n.4751-27del) c.4430-27del (n.4430-27del) c.4493-27del (n.4493-27del) n.541-27del c.3905-27del (n.3905-27del) c.4037-27del (n.4037-27del) c.3857-27del (n.3857-27del) c.3794-27del (n.3794-27del) c.3638-27del (n.3638-27del) c.3569-27del (n.3569-27del) | |
6 | g.33164991A>G | CA2678226534 | COL11A2 | n.557-27T>C c.4751-27T>C (n.4751-27T>C) c.4430-27T>C (n.4430-27T>C) c.4493-27T>C (n.4493-27T>C) n.541-27T>C c.3905-27T>C (n.3905-27T>C) c.4037-27T>C (n.4037-27T>C) c.3857-27T>C (n.3857-27T>C) c.3794-27T>C (n.3794-27T>C) c.3638-27T>C (n.3638-27T>C) c.3569-27T>C (n.3569-27T>C) | gnomAD v4 |
6 | g.33164992G>C | CA3750003 | COL11A2 | n.557-28C>G c.4751-28C>G (n.4751-28C>G) c.4430-28C>G (n.4430-28C>G) c.4493-28C>G (n.4493-28C>G) n.541-28C>G c.3905-28C>G (n.3905-28C>G) c.4037-28C>G (n.4037-28C>G) c.3857-28C>G (n.3857-28C>G) c.3794-28C>G (n.3794-28C>G) c.3638-28C>G (n.3638-28C>G) c.3569-28C>G (n.3569-28C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164992G= | CA1619890700 | COL11A2 | n.557-28C= c.4751-28C= (n.4751-28C=) c.4430-28C= (n.4430-28C=) c.4493-28C= (n.4493-28C=) n.541-28C= c.3905-28C= (n.3905-28C=) c.4037-28C= (n.4037-28C=) c.3857-28C= (n.3857-28C=) c.3794-28C= (n.3794-28C=) c.3638-28C= (n.3638-28C=) c.3569-28C= (n.3569-28C=) | |
6 | g.33164993G>A | CA2578581114 | COL11A2 | n.557-29C>T c.4751-29C>T (n.4751-29C>T) c.4430-29C>T (n.4430-29C>T) c.4493-29C>T (n.4493-29C>T) n.541-29C>T c.3905-29C>T (n.3905-29C>T) c.4037-29C>T (n.4037-29C>T) c.3857-29C>T (n.3857-29C>T) c.3794-29C>T (n.3794-29C>T) c.3638-29C>T (n.3638-29C>T) c.3569-29C>T (n.3569-29C>T) | |
6 | g.33164994G>A | CA2678226538 | COL11A2 | n.557-30C>T c.4751-30C>T (n.4751-30C>T) c.4430-30C>T (n.4430-30C>T) c.4493-30C>T (n.4493-30C>T) n.541-30C>T c.3905-30C>T (n.3905-30C>T) c.4037-30C>T (n.4037-30C>T) c.3857-30C>T (n.3857-30C>T) c.3794-30C>T (n.3794-30C>T) c.3638-30C>T (n.3638-30C>T) c.3569-30C>T (n.3569-30C>T) | gnomAD v4 |
6 | g.33164995C>A | CA2678226539 | COL11A2 | n.557-31G>T c.4751-31G>T (n.4751-31G>T) c.4430-31G>T (n.4430-31G>T) c.4493-31G>T (n.4493-31G>T) n.541-31G>T c.3905-31G>T (n.3905-31G>T) c.4037-31G>T (n.4037-31G>T) c.3857-31G>T (n.3857-31G>T) c.3794-31G>T (n.3794-31G>T) c.3638-31G>T (n.3638-31G>T) c.3569-31G>T (n.3569-31G>T) | gnomAD v4 |
6 | g.33164995C= | CA1619890703 | COL11A2 | n.557-31G= c.4751-31G= (n.4751-31G=) c.4430-31G= (n.4430-31G=) c.4493-31G= (n.4493-31G=) n.541-31G= c.3905-31G= (n.3905-31G=) c.4037-31G= (n.4037-31G=) c.3857-31G= (n.3857-31G=) c.3794-31G= (n.3794-31G=) c.3638-31G= (n.3638-31G=) c.3569-31G= (n.3569-31G=) | |
6 | g.33164995C>T | CA566425006 | COL11A2 | n.557-31G>A c.4751-31G>A (n.4751-31G>A) c.4430-31G>A (n.4430-31G>A) c.4493-31G>A (n.4493-31G>A) n.541-31G>A c.3905-31G>A (n.3905-31G>A) c.4037-31G>A (n.4037-31G>A) c.3857-31G>A (n.3857-31G>A) c.3794-31G>A (n.3794-31G>A) c.3638-31G>A (n.3638-31G>A) c.3569-31G>A (n.3569-31G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164996C>A | CA2578581115 | COL11A2 | n.557-32G>T c.4751-32G>T (n.4751-32G>T) c.4430-32G>T (n.4430-32G>T) c.4493-32G>T (n.4493-32G>T) n.541-32G>T c.3905-32G>T (n.3905-32G>T) c.4037-32G>T (n.4037-32G>T) c.3857-32G>T (n.3857-32G>T) c.3794-32G>T (n.3794-32G>T) c.3638-32G>T (n.3638-32G>T) c.3569-32G>T (n.3569-32G>T) | |
6 | g.33164996C>T | CA2578581116 | COL11A2 | n.557-32G>A c.4751-32G>A (n.4751-32G>A) c.4430-32G>A (n.4430-32G>A) c.4493-32G>A (n.4493-32G>A) n.541-32G>A c.3905-32G>A (n.3905-32G>A) c.4037-32G>A (n.4037-32G>A) c.3857-32G>A (n.3857-32G>A) c.3794-32G>A (n.3794-32G>A) c.3638-32G>A (n.3638-32G>A) c.3569-32G>A (n.3569-32G>A) | |
6 | g.33164998C>T | CA2678226540 | COL11A2 | n.557-34G>A c.4751-34G>A (n.4751-34G>A) c.4430-34G>A (n.4430-34G>A) c.4493-34G>A (n.4493-34G>A) n.541-34G>A c.3905-34G>A (n.3905-34G>A) c.4037-34G>A (n.4037-34G>A) c.3857-34G>A (n.3857-34G>A) c.3794-34G>A (n.3794-34G>A) c.3638-34G>A (n.3638-34G>A) c.3569-34G>A (n.3569-34G>A) | gnomAD v4 |
6 | g.33165000T>C | CA2678226542 | COL11A2 | n.557-36A>G c.4751-36A>G (n.4751-36A>G) c.4430-36A>G (n.4430-36A>G) c.4493-36A>G (n.4493-36A>G) n.541-36A>G c.3905-36A>G (n.3905-36A>G) c.4037-36A>G (n.4037-36A>G) c.3857-36A>G (n.3857-36A>G) c.3794-36A>G (n.3794-36A>G) c.3638-36A>G (n.3638-36A>G) c.3569-36A>G (n.3569-36A>G) | gnomAD v4 |
6 | g.33165000T>G | CA137061792 | COL11A2 | n.557-36A>C c.4751-36A>C (n.4751-36A>C) c.4430-36A>C (n.4430-36A>C) c.4493-36A>C (n.4493-36A>C) n.541-36A>C c.3905-36A>C (n.3905-36A>C) c.4037-36A>C (n.4037-36A>C) c.3857-36A>C (n.3857-36A>C) c.3794-36A>C (n.3794-36A>C) c.3638-36A>C (n.3638-36A>C) c.3569-36A>C (n.3569-36A>C) | dbSNP gnomAD v4 |
6 | g.33165000T= | CA1619890705 | COL11A2 | n.557-36A= c.4751-36A= (n.4751-36A=) c.4430-36A= (n.4430-36A=) c.4493-36A= (n.4493-36A=) n.541-36A= c.3905-36A= (n.3905-36A=) c.4037-36A= (n.4037-36A=) c.3857-36A= (n.3857-36A=) c.3794-36A= (n.3794-36A=) c.3638-36A= (n.3638-36A=) c.3569-36A= (n.3569-36A=) | |
6 | g.33165001A>G | CA2555606163 | COL11A2 | n.557-37T>C c.4751-37T>C (n.4751-37T>C) c.4430-37T>C (n.4430-37T>C) c.4493-37T>C (n.4493-37T>C) n.541-37T>C c.3905-37T>C (n.3905-37T>C) c.4037-37T>C (n.4037-37T>C) c.3857-37T>C (n.3857-37T>C) c.3794-37T>C (n.3794-37T>C) c.3638-37T>C (n.3638-37T>C) c.3569-37T>C (n.3569-37T>C) | gnomAD v4 |
6 | g.33165002G>C | CA137061795 | COL11A2 | n.557-38C>G c.4751-38C>G (n.4751-38C>G) c.4430-38C>G (n.4430-38C>G) c.4493-38C>G (n.4493-38C>G) n.541-38C>G c.3905-38C>G (n.3905-38C>G) c.4037-38C>G (n.4037-38C>G) c.3857-38C>G (n.3857-38C>G) c.3794-38C>G (n.3794-38C>G) c.3638-38C>G (n.3638-38C>G) c.3569-38C>G (n.3569-38C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33165002G= | CA1619890708 | COL11A2 | n.557-38C= c.4751-38C= (n.4751-38C=) c.4430-38C= (n.4430-38C=) c.4493-38C= (n.4493-38C=) n.541-38C= c.3905-38C= (n.3905-38C=) c.4037-38C= (n.4037-38C=) c.3857-38C= (n.3857-38C=) c.3794-38C= (n.3794-38C=) c.3638-38C= (n.3638-38C=) c.3569-38C= (n.3569-38C=) | |
6 | g.33165002G>T | CA566425008 | COL11A2 | n.557-38C>A c.4751-38C>A (n.4751-38C>A) c.4430-38C>A (n.4430-38C>A) c.4493-38C>A (n.4493-38C>A) n.541-38C>A c.3905-38C>A (n.3905-38C>A) c.4037-38C>A (n.4037-38C>A) c.3857-38C>A (n.3857-38C>A) c.3794-38C>A (n.3794-38C>A) c.3638-38C>A (n.3638-38C>A) c.3569-38C>A (n.3569-38C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33165003G>A | CA2678226547 | COL11A2 | n.557-39C>T c.4751-39C>T (n.4751-39C>T) c.4430-39C>T (n.4430-39C>T) c.4493-39C>T (n.4493-39C>T) n.541-39C>T c.3905-39C>T (n.3905-39C>T) c.4037-39C>T (n.4037-39C>T) c.3857-39C>T (n.3857-39C>T) c.3794-39C>T (n.3794-39C>T) c.3638-39C>T (n.3638-39C>T) c.3569-39C>T (n.3569-39C>T) | gnomAD v4 |
6 | g.33165003G= | CA1619890713 | COL11A2 | n.557-39C= c.4751-39C= (n.4751-39C=) c.4430-39C= (n.4430-39C=) c.4493-39C= (n.4493-39C=) n.541-39C= c.3905-39C= (n.3905-39C=) c.4037-39C= (n.4037-39C=) c.3857-39C= (n.3857-39C=) c.3794-39C= (n.3794-39C=) c.3638-39C= (n.3638-39C=) c.3569-39C= (n.3569-39C=) | |
6 | g.33165003G>T | CA1619890711 | COL11A2 | n.557-39C>A c.4751-39C>A (n.4751-39C>A) c.4430-39C>A (n.4430-39C>A) c.4493-39C>A (n.4493-39C>A) n.541-39C>A c.3905-39C>A (n.3905-39C>A) c.4037-39C>A (n.4037-39C>A) c.3857-39C>A (n.3857-39C>A) c.3794-39C>A (n.3794-39C>A) c.3638-39C>A (n.3638-39C>A) c.3569-39C>A (n.3569-39C>A) | dbSNP gnomAD v4 |
6 | g.33165004T>G | CA2678226550 | COL11A2 | n.557-40A>C c.4751-40A>C (n.4751-40A>C) c.4430-40A>C (n.4430-40A>C) c.4493-40A>C (n.4493-40A>C) n.541-40A>C c.3905-40A>C (n.3905-40A>C) c.4037-40A>C (n.4037-40A>C) c.3857-40A>C (n.3857-40A>C) c.3794-40A>C (n.3794-40A>C) c.3638-40A>C (n.3638-40A>C) c.3569-40A>C (n.3569-40A>C) | gnomAD v4 |
6 | g.33165005C>A | CA2578581117 | COL11A2 | n.557-41G>T c.4751-41G>T (n.4751-41G>T) c.4430-41G>T (n.4430-41G>T) c.4493-41G>T (n.4493-41G>T) n.541-41G>T c.3905-41G>T (n.3905-41G>T) c.4037-41G>T (n.4037-41G>T) c.3857-41G>T (n.3857-41G>T) c.3794-41G>T (n.3794-41G>T) c.3638-41G>T (n.3638-41G>T) c.3569-41G>T (n.3569-41G>T) | |
6 | g.33165006del | CA2678226552 | COL11A2 | n.557-41del c.4751-41del (n.4751-41del) c.4430-41del (n.4430-41del) c.4493-41del (n.4493-41del) n.541-41del c.3905-41del (n.3905-41del) c.4037-41del (n.4037-41del) c.3857-41del (n.3857-41del) c.3794-41del (n.3794-41del) c.3638-41del (n.3638-41del) c.3569-41del (n.3569-41del) | gnomAD v4 |
6 | g.33165006C= | CA1619890716 | COL11A2 | n.557-42G= c.4751-42G= (n.4751-42G=) c.4430-42G= (n.4430-42G=) c.4493-42G= (n.4493-42G=) n.541-42G= c.3905-42G= (n.3905-42G=) c.4037-42G= (n.4037-42G=) c.3857-42G= (n.3857-42G=) c.3794-42G= (n.3794-42G=) c.3638-42G= (n.3638-42G=) c.3569-42G= (n.3569-42G=) | |
6 | g.33165006C>T | CA3750004 | COL11A2 | n.557-42G>A c.4751-42G>A (n.4751-42G>A) c.4430-42G>A (n.4430-42G>A) c.4493-42G>A (n.4493-42G>A) n.541-42G>A c.3905-42G>A (n.3905-42G>A) c.4037-42G>A (n.4037-42G>A) c.3857-42G>A (n.3857-42G>A) c.3794-42G>A (n.3794-42G>A) c.3638-42G>A (n.3638-42G>A) c.3569-42G>A (n.3569-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33165007A>T | CA2578581118 | COL11A2 | n.557-43T>A c.4751-43T>A (n.4751-43T>A) c.4430-43T>A (n.4430-43T>A) c.4493-43T>A (n.4493-43T>A) n.541-43T>A c.3905-43T>A (n.3905-43T>A) c.4037-43T>A (n.4037-43T>A) c.3857-43T>A (n.3857-43T>A) c.3794-43T>A (n.3794-43T>A) c.3638-43T>A (n.3638-43T>A) c.3569-43T>A (n.3569-43T>A) | |
6 | g.33165008G>A | CA2678226555 | COL11A2 | n.557-44C>T c.4751-44C>T (n.4751-44C>T) c.4430-44C>T (n.4430-44C>T) c.4493-44C>T (n.4493-44C>T) n.541-44C>T c.3905-44C>T (n.3905-44C>T) c.4037-44C>T (n.4037-44C>T) c.3857-44C>T (n.3857-44C>T) c.3794-44C>T (n.3794-44C>T) c.3638-44C>T (n.3638-44C>T) c.3569-44C>T (n.3569-44C>T) | gnomAD v4 |
6 | g.33165009G>T | CA2578581119 | COL11A2 | n.557-45C>A c.4751-45C>A (n.4751-45C>A) c.4430-45C>A (n.4430-45C>A) c.4493-45C>A (n.4493-45C>A) n.541-45C>A c.3905-45C>A (n.3905-45C>A) c.4037-45C>A (n.4037-45C>A) c.3857-45C>A (n.3857-45C>A) c.3794-45C>A (n.3794-45C>A) c.3638-45C>A (n.3638-45C>A) c.3569-45C>A (n.3569-45C>A) | gnomAD v4 |
6 | g.33165010C>A | CA2678226557 | COL11A2 | n.557-46G>T c.4751-46G>T (n.4751-46G>T) c.4430-46G>T (n.4430-46G>T) c.4493-46G>T (n.4493-46G>T) n.541-46G>T c.3905-46G>T (n.3905-46G>T) c.4037-46G>T (n.4037-46G>T) c.3857-46G>T (n.3857-46G>T) c.3794-46G>T (n.3794-46G>T) c.3638-46G>T (n.3638-46G>T) c.3569-46G>T (n.3569-46G>T) | gnomAD v4 |
6 | g.33165010C= | CA1619890718 | COL11A2 | n.557-46G= c.4751-46G= (n.4751-46G=) c.4430-46G= (n.4430-46G=) c.4493-46G= (n.4493-46G=) n.541-46G= c.3905-46G= (n.3905-46G=) c.4037-46G= (n.4037-46G=) c.3857-46G= (n.3857-46G=) c.3794-46G= (n.3794-46G=) c.3638-46G= (n.3638-46G=) c.3569-46G= (n.3569-46G=) | |
6 | g.33165010C>T | CA1619890719 | COL11A2 | n.557-46G>A c.4751-46G>A (n.4751-46G>A) c.4430-46G>A (n.4430-46G>A) c.4493-46G>A (n.4493-46G>A) n.541-46G>A c.3905-46G>A (n.3905-46G>A) c.4037-46G>A (n.4037-46G>A) c.3857-46G>A (n.3857-46G>A) c.3794-46G>A (n.3794-46G>A) c.3638-46G>A (n.3638-46G>A) c.3569-46G>A (n.3569-46G>A) | dbSNP |
6 | g.33165013C>A | CA2578581120 | COL11A2 | n.557-49G>T c.4751-49G>T (n.4751-49G>T) c.4430-49G>T (n.4430-49G>T) c.4493-49G>T (n.4493-49G>T) n.541-49G>T c.3905-49G>T (n.3905-49G>T) c.4037-49G>T (n.4037-49G>T) c.3857-49G>T (n.3857-49G>T) c.3794-49G>T (n.3794-49G>T) c.3638-49G>T (n.3638-49G>T) c.3569-49G>T (n.3569-49G>T) | |
6 | g.33165013C>G | CA2711424051 | COL11A2 | n.557-49G>C c.4751-49G>C (n.4751-49G>C) c.4430-49G>C (n.4430-49G>C) c.4493-49G>C (n.4493-49G>C) n.541-49G>C c.3905-49G>C (n.3905-49G>C) c.4037-49G>C (n.4037-49G>C) c.3857-49G>C (n.3857-49G>C) c.3794-49G>C (n.3794-49G>C) c.3638-49G>C (n.3638-49G>C) c.3569-49G>C (n.3569-49G>C) | dbSNP |
6 | g.33165013C>T | CA2578581121 | COL11A2 | n.557-49G>A c.4751-49G>A (n.4751-49G>A) c.4430-49G>A (n.4430-49G>A) c.4493-49G>A (n.4493-49G>A) n.541-49G>A c.3905-49G>A (n.3905-49G>A) c.4037-49G>A (n.4037-49G>A) c.3857-49G>A (n.3857-49G>A) c.3794-49G>A (n.3794-49G>A) c.3638-49G>A (n.3638-49G>A) c.3569-49G>A (n.3569-49G>A) | |
6 | g.33165015A= | CA1619890720 | COL11A2 | n.557-51T= c.4751-51T= (n.4751-51T=) c.4430-51T= (n.4430-51T=) c.4493-51T= (n.4493-51T=) n.541-51T= c.3905-51T= (n.3905-51T=) c.4037-51T= (n.4037-51T=) c.3857-51T= (n.3857-51T=) c.3794-51T= (n.3794-51T=) c.3638-51T= (n.3638-51T=) c.3569-51T= (n.3569-51T=) | |
6 | g.33165015A>G | CA1619890721 | COL11A2 | n.557-51T>C c.4751-51T>C (n.4751-51T>C) c.4430-51T>C (n.4430-51T>C) c.4493-51T>C (n.4493-51T>C) n.541-51T>C c.3905-51T>C (n.3905-51T>C) c.4037-51T>C (n.4037-51T>C) c.3857-51T>C (n.3857-51T>C) c.3794-51T>C (n.3794-51T>C) c.3638-51T>C (n.3638-51T>C) c.3569-51T>C (n.3569-51T>C) | dbSNP |
6 | g.33165016G>A | CA2678226558 | COL11A2 | n.557-52C>T c.4751-52C>T (n.4751-52C>T) c.4430-52C>T (n.4430-52C>T) c.4493-52C>T (n.4493-52C>T) n.541-52C>T c.3905-52C>T (n.3905-52C>T) c.4037-52C>T (n.4037-52C>T) c.3857-52C>T (n.3857-52C>T) c.3794-52C>T (n.3794-52C>T) c.3638-52C>T (n.3638-52C>T) c.3569-52C>T (n.3569-52C>T) | gnomAD v4 |
6 | g.33165016G>C | CA1619890724 | COL11A2 | n.557-52C>G c.4751-52C>G (n.4751-52C>G) c.4430-52C>G (n.4430-52C>G) c.4493-52C>G (n.4493-52C>G) n.541-52C>G c.3905-52C>G (n.3905-52C>G) c.4037-52C>G (n.4037-52C>G) c.3857-52C>G (n.3857-52C>G) c.3794-52C>G (n.3794-52C>G) c.3638-52C>G (n.3638-52C>G) c.3569-52C>G (n.3569-52C>G) | dbSNP gnomAD v4 |
6 | g.33165016G= | CA1619890723 | COL11A2 | n.557-52C= c.4751-52C= (n.4751-52C=) c.4430-52C= (n.4430-52C=) c.4493-52C= (n.4493-52C=) n.541-52C= c.3905-52C= (n.3905-52C=) c.4037-52C= (n.4037-52C=) c.3857-52C= (n.3857-52C=) c.3794-52C= (n.3794-52C=) c.3638-52C= (n.3638-52C=) c.3569-52C= (n.3569-52C=) | |
6 | g.33165017A>T | CA2678226561 | COL11A2 | n.557-53T>A c.4751-53T>A (n.4751-53T>A) c.4430-53T>A (n.4430-53T>A) c.4493-53T>A (n.4493-53T>A) n.541-53T>A c.3905-53T>A (n.3905-53T>A) c.4037-53T>A (n.4037-53T>A) c.3857-53T>A (n.3857-53T>A) c.3794-53T>A (n.3794-53T>A) c.3638-53T>A (n.3638-53T>A) c.3569-53T>A (n.3569-53T>A) | gnomAD v4 |
6 | g.33165019G>A | CA2678226564 | COL11A2 | n.557-55C>T c.4751-55C>T (n.4751-55C>T) c.4430-55C>T (n.4430-55C>T) c.4493-55C>T (n.4493-55C>T) n.541-55C>T c.3905-55C>T (n.3905-55C>T) c.4037-55C>T (n.4037-55C>T) c.3857-55C>T (n.3857-55C>T) c.3794-55C>T (n.3794-55C>T) c.3638-55C>T (n.3638-55C>T) c.3569-55C>T (n.3569-55C>T) | gnomAD v4 |
6 | g.33165019G>T | CA2578581122 | COL11A2 | n.557-55C>A c.4751-55C>A (n.4751-55C>A) c.4430-55C>A (n.4430-55C>A) c.4493-55C>A (n.4493-55C>A) n.541-55C>A c.3905-55C>A (n.3905-55C>A) c.4037-55C>A (n.4037-55C>A) c.3857-55C>A (n.3857-55C>A) c.3794-55C>A (n.3794-55C>A) c.3638-55C>A (n.3638-55C>A) c.3569-55C>A (n.3569-55C>A) | gnomAD v4 |