Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47983552_47986872delCA658797886COL2A1c.1181_1789-108del
c.1388_1996-108del
n.312_920-108del
c.1532_2140-108del
c.1529_2137-108del
c.476_1084-108del
c.1322_1930-108del
c.842_1450-108del
 ClinVar
12g.47986325_47986372delCA2695216327COL2A1c.1284_1320+11del
c.1491_1527+11del
n.415_451+11del
c.1635_1671+11del
c.1632_1668+11del
c.579_615+11del
c.1425_1461+11del
c.945_981+11del
12g.47986353C>ACA250682COL2A1c.1303G>T (p.Gly435Cys)
c.1510G>T (p.Gly504Cys)
n.434G>T
c.1654G>T (p.Gly552Cys)
c.1651G>T (p.Gly551Cys)
c.598G>T (p.Gly200Cys)
c.1444G>T (p.Gly482Cys)
c.964G>T (p.Gly322Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.47986353C=CA2034456909COL2A1c.1303G= (p.Gly435=)
c.1510G= (p.Gly504=)
n.434G=
c.1654G= (p.Gly552=)
c.1651G= (p.Gly551=)
c.598G= (p.Gly200=)
c.1444G= (p.Gly482=)
c.964G= (p.Gly322=)
12g.47986353C>GCA384552454COL2A1c.1303G>C (p.Gly435Arg)
c.1510G>C (p.Gly504Arg)
n.434G>C
c.1654G>C (p.Gly552Arg)
c.1651G>C (p.Gly551Arg)
c.598G>C (p.Gly200Arg)
c.1444G>C (p.Gly482Arg)
c.964G>C (p.Gly322Arg)
12g.47986353C>TCA251240COL2A1c.1303G>A (p.Gly435Ser)
c.1510G>A (p.Gly504Ser)
n.434G>A
c.1654G>A (p.Gly552Ser)
c.1651G>A (p.Gly551Ser)
c.598G>A (p.Gly200Ser)
c.1444G>A (p.Gly482Ser)
c.964G>A (p.Gly322Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47986353_47986354delinsAACA1139771037COL2A1c.1302_1303delinsTT (p.Gly435Cys)
c.1509_1510delinsTT (p.Gly504Cys)
n.433_434delinsTT
c.1653_1654delinsTT (p.Gly552Cys)
c.1650_1651delinsTT (p.Gly551Cys)
c.597_598delinsTT (p.Gly200Cys)
c.1443_1444delinsTT (p.Gly482Cys)
c.963_964delinsTT (p.Gly322Cys)
12g.47986354G>ACA6535467COL2A1c.1302C>T (p.Ile434=)
c.1509C>T (p.Ile503=)
n.433C>T
c.1653C>T (p.Ile551=)
c.1650C>T (p.Ile550=)
c.597C>T (p.Ile199=)
c.1443C>T (p.Ile481=)
c.963C>T (p.Ile321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47986354G>CCA384552456COL2A1c.1302C>G (p.Ile434Met)
c.1509C>G (p.Ile503Met)
n.433C>G
c.1653C>G (p.Ile551Met)
c.1650C>G (p.Ile550Met)
c.597C>G (p.Ile199Met)
c.1443C>G (p.Ile481Met)
c.963C>G (p.Ile321Met)
 gnomAD v4
12g.47986354G=CA2034456914COL2A1c.1302C= (p.Ile434=)
c.1509C= (p.Ile503=)
n.433C=
c.1653C= (p.Ile551=)
c.1650C= (p.Ile550=)
c.597C= (p.Ile199=)
c.1443C= (p.Ile481=)
c.963C= (p.Ile321=)
12g.47986354G>TCA479471106COL2A1c.1302C>A (p.Ile434=)
c.1509C>A (p.Ile503=)
n.433C>A
c.1653C>A (p.Ile551=)
c.1650C>A (p.Ile550=)
c.597C>A (p.Ile199=)
c.1443C>A (p.Ile481=)
c.963C>A (p.Ile321=)
 gnomAD v4
12g.47986355A>CCA384552457COL2A1c.1301T>G (p.Ile434Ser)
c.1508T>G (p.Ile503Ser)
n.432T>G
c.1652T>G (p.Ile551Ser)
c.1649T>G (p.Ile550Ser)
c.596T>G (p.Ile199Ser)
c.1442T>G (p.Ile481Ser)
c.962T>G (p.Ile321Ser)
12g.47986355A>GCA384552459COL2A1c.1301T>C (p.Ile434Thr)
c.1508T>C (p.Ile503Thr)
n.432T>C
c.1652T>C (p.Ile551Thr)
c.1649T>C (p.Ile550Thr)
c.596T>C (p.Ile199Thr)
c.1442T>C (p.Ile481Thr)
c.962T>C (p.Ile321Thr)
12g.47986355A>TCA384552461COL2A1c.1301T>A (p.Ile434Asn)
c.1508T>A (p.Ile503Asn)
n.432T>A
c.1652T>A (p.Ile551Asn)
c.1649T>A (p.Ile550Asn)
c.596T>A (p.Ile199Asn)
c.1442T>A (p.Ile481Asn)
c.962T>A (p.Ile321Asn)
12g.47986355_47986356delCA2533492700COL2A1c.1300_1301del (p.Ile434ArgfsTer?)
c.1507_1508del (p.Ile503ArgfsTer?)
n.431_432del
c.1651_1652del (p.Ile551ArgfsTer?)
c.1648_1649del (p.Ile550ArgfsTer?)
c.595_596del (p.Ile199ArgfsTer?)
c.1441_1442del (p.Ile481ArgfsTer?)
c.961_962del (p.Ile321ArgfsTer?)
12g.47986356T>ACA384552477COL2A1c.1300A>T (p.Ile434Phe)
c.1507A>T (p.Ile503Phe)
n.431A>T
c.1651A>T (p.Ile551Phe)
c.1648A>T (p.Ile550Phe)
c.595A>T (p.Ile199Phe)
c.1441A>T (p.Ile481Phe)
c.961A>T (p.Ile321Phe)
 gnomAD v4
12g.47986356T>CCA384552473COL2A1c.1300A>G (p.Ile434Val)
c.1507A>G (p.Ile503Val)
n.431A>G
c.1651A>G (p.Ile551Val)
c.1648A>G (p.Ile550Val)
c.595A>G (p.Ile199Val)
c.1441A>G (p.Ile481Val)
c.961A>G (p.Ile321Val)
 gnomAD v4
12g.47986356T>GCA384552474COL2A1c.1300A>C (p.Ile434Leu)
c.1507A>C (p.Ile503Leu)
n.431A>C
c.1651A>C (p.Ile551Leu)
c.1648A>C (p.Ile550Leu)
c.595A>C (p.Ile199Leu)
c.1441A>C (p.Ile481Leu)
c.961A>C (p.Ile321Leu)
12g.47986357G>ACA479471124COL2A1c.1299C>T (p.Pro433=)
c.1506C>T (p.Pro502=)
n.430C>T
c.1650C>T (p.Pro550=)
c.1647C>T (p.Pro549=)
c.594C>T (p.Pro198=)
c.1440C>T (p.Pro480=)
c.960C>T (p.Pro320=)
 gnomAD v4
12g.47986357G>CCA479471127COL2A1c.1299C>G (p.Pro433=)
c.1506C>G (p.Pro502=)
n.430C>G
c.1650C>G (p.Pro550=)
c.1647C>G (p.Pro549=)
c.594C>G (p.Pro198=)
c.1440C>G (p.Pro480=)
c.960C>G (p.Pro320=)
12g.47986357G>TCA479471129COL2A1c.1299C>A (p.Pro433=)
c.1506C>A (p.Pro502=)
n.430C>A
c.1650C>A (p.Pro550=)
c.1647C>A (p.Pro549=)
c.594C>A (p.Pro198=)
c.1440C>A (p.Pro480=)
c.960C>A (p.Pro320=)
 gnomAD v4
12g.47986357_47986358insCACA2555939585COL2A1c.1298_1299insTG (p.Ile434AlafsTer?)
c.1505_1506insTG (p.Ile503AlafsTer?)
n.429_430insTG
c.1649_1650insTG (p.Ile551AlafsTer?)
c.1646_1647insTG (p.Ile550AlafsTer?)
c.593_594insTG (p.Ile199AlafsTer?)
c.1439_1440insTG (p.Ile481AlafsTer?)
c.959_960insTG (p.Ile321AlafsTer?)
12g.47986358G>ACA236527639COL2A1c.1298C>T (p.Pro433Leu)
c.1505C>T (p.Pro502Leu)
n.429C>T
c.1649C>T (p.Pro550Leu)
c.1646C>T (p.Pro549Leu)
c.593C>T (p.Pro198Leu)
c.1439C>T (p.Pro480Leu)
c.959C>T (p.Pro320Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986358G>CCA384552491COL2A1c.1298C>G (p.Pro433Arg)
c.1505C>G (p.Pro502Arg)
n.429C>G
c.1649C>G (p.Pro550Arg)
c.1646C>G (p.Pro549Arg)
c.593C>G (p.Pro198Arg)
c.1439C>G (p.Pro480Arg)
c.959C>G (p.Pro320Arg)
12g.47986358G=CA2034456920COL2A1c.1298C= (p.Pro433=)
c.1505C= (p.Pro502=)
n.429C=
c.1649C= (p.Pro550=)
c.1646C= (p.Pro549=)
c.593C= (p.Pro198=)
c.1439C= (p.Pro480=)
c.959C= (p.Pro320=)
12g.47986358G>TCA384552493COL2A1c.1298C>A (p.Pro433His)
c.1505C>A (p.Pro502His)
n.429C>A
c.1649C>A (p.Pro550His)
c.1646C>A (p.Pro549His)
c.593C>A (p.Pro198His)
c.1439C>A (p.Pro480His)
c.959C>A (p.Pro320His)
12g.47986358_47986359insACTCA2795863308COL2A1c.1297_1298insAGT (p.Pro433delinsGlnSer)
c.1504_1505insAGT (p.Pro502delinsGlnSer)
n.428_429insAGT
c.1648_1649insAGT (p.Pro550delinsGlnSer)
c.1645_1646insAGT (p.Pro549delinsGlnSer)
c.592_593insAGT (p.Pro198delinsGlnSer)
c.1438_1439insAGT (p.Pro480delinsGlnSer)
c.958_959insAGT (p.Pro320delinsGlnSer)
12g.47986359G>ACA384552497COL2A1c.1297C>T (p.Pro433Ser)
c.1504C>T (p.Pro502Ser)
n.428C>T
c.1648C>T (p.Pro550Ser)
c.1645C>T (p.Pro549Ser)
c.592C>T (p.Pro198Ser)
c.1438C>T (p.Pro480Ser)
c.958C>T (p.Pro320Ser)
 gnomAD v4
12g.47986359G>CCA384552499COL2A1c.1297C>G (p.Pro433Ala)
c.1504C>G (p.Pro502Ala)
n.428C>G
c.1648C>G (p.Pro550Ala)
c.1645C>G (p.Pro549Ala)
c.592C>G (p.Pro198Ala)
c.1438C>G (p.Pro480Ala)
c.958C>G (p.Pro320Ala)
12g.47986359G>TCA384552500COL2A1c.1297C>A (p.Pro433Thr)
c.1504C>A (p.Pro502Thr)
n.428C>A
c.1648C>A (p.Pro550Thr)
c.1645C>A (p.Pro549Thr)
c.592C>A (p.Pro198Thr)
c.1438C>A (p.Pro480Thr)
c.958C>A (p.Pro320Thr)
 gnomAD v4
12g.47986359_47986360delCA2795863305COL2A1c.1296_1297del (p.Pro433HisfsTer?)
c.1503_1504del (p.Pro502HisfsTer?)
n.427_428del
c.1647_1648del (p.Pro550HisfsTer?)
c.1644_1645del (p.Pro549HisfsTer?)
c.591_592del (p.Pro198HisfsTer?)
c.1437_1438del (p.Pro480HisfsTer?)
c.957_958del (p.Pro320HisfsTer?)
12g.47986360C>ACA479471154COL2A1c.1296G>T (p.Gly432=)
c.1503G>T (p.Gly501=)
n.427G>T
c.1647G>T (p.Gly549=)
c.1644G>T (p.Gly548=)
c.591G>T (p.Gly197=)
c.1437G>T (p.Gly479=)
c.957G>T (p.Gly319=)
 gnomAD v4
12g.47986360C=CA2034456930COL2A1c.1296G= (p.Gly432=)
c.1503G= (p.Gly501=)
n.427G=
c.1647G= (p.Gly549=)
c.1644G= (p.Gly548=)
c.591G= (p.Gly197=)
c.1437G= (p.Gly479=)
c.957G= (p.Gly319=)
12g.47986360C>GCA479471150COL2A1c.1296G>C (p.Gly432=)
c.1503G>C (p.Gly501=)
n.427G>C
c.1647G>C (p.Gly549=)
c.1644G>C (p.Gly548=)
c.591G>C (p.Gly197=)
c.1437G>C (p.Gly479=)
c.957G>C (p.Gly319=)
12g.47986360C>TCA479471152COL2A1c.1296G>A (p.Gly432=)
c.1503G>A (p.Gly501=)
n.427G>A
c.1647G>A (p.Gly549=)
c.1644G>A (p.Gly548=)
c.591G>A (p.Gly197=)
c.1437G>A (p.Gly479=)
c.957G>A (p.Gly319=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47986361C>ACA384552508COL2A1c.1295G>T (p.Gly432Val)
c.1502G>T (p.Gly501Val)
n.426G>T
c.1646G>T (p.Gly549Val)
c.1643G>T (p.Gly548Val)
c.590G>T (p.Gly197Val)
c.1436G>T (p.Gly479Val)
c.956G>T (p.Gly319Val)
 gnomAD v4
12g.47986361C=CA2034456934COL2A1c.1295G= (p.Gly432=)
c.1502G= (p.Gly501=)
n.426G=
c.1646G= (p.Gly549=)
c.1643G= (p.Gly548=)
c.590G= (p.Gly197=)
c.1436G= (p.Gly479=)
c.956G= (p.Gly319=)
12g.47986361C>GCA384552506COL2A1c.1295G>C (p.Gly432Ala)
c.1502G>C (p.Gly501Ala)
n.426G>C
c.1646G>C (p.Gly549Ala)
c.1643G>C (p.Gly548Ala)
c.590G>C (p.Gly197Ala)
c.1436G>C (p.Gly479Ala)
c.956G>C (p.Gly319Ala)
12g.47986361C>TCA384552504COL2A1c.1295G>A (p.Gly432Glu)
c.1502G>A (p.Gly501Glu)
n.426G>A
c.1646G>A (p.Gly549Glu)
c.1643G>A (p.Gly548Glu)
c.590G>A (p.Gly197Glu)
c.1436G>A (p.Gly479Glu)
c.956G>A (p.Gly319Glu)
 ClinVar dbSNP gnomAD v2
12g.47986362C>ACA236527641COL2A1c.1294G>T (p.Gly432Trp)
c.1501G>T (p.Gly501Trp)
n.425G>T
c.1645G>T (p.Gly549Trp)
c.1642G>T (p.Gly548Trp)
c.589G>T (p.Gly197Trp)
c.1435G>T (p.Gly479Trp)
c.955G>T (p.Gly319Trp)
 dbSNP gnomAD v4
12g.47986362C=CA2034456938COL2A1c.1294G= (p.Gly432=)
c.1501G= (p.Gly501=)
n.425G=
c.1645G= (p.Gly549=)
c.1642G= (p.Gly548=)
c.589G= (p.Gly197=)
c.1435G= (p.Gly479=)
c.955G= (p.Gly319=)
12g.47986362C>GCA384552512COL2A1c.1294G>C (p.Gly432Arg)
c.1501G>C (p.Gly501Arg)
n.425G>C
c.1645G>C (p.Gly549Arg)
c.1642G>C (p.Gly548Arg)
c.589G>C (p.Gly197Arg)
c.1435G>C (p.Gly479Arg)
c.955G>C (p.Gly319Arg)
12g.47986362C>TCA384552514COL2A1c.1294G>A (p.Gly432Arg)
c.1501G>A (p.Gly501Arg)
n.425G>A
c.1645G>A (p.Gly549Arg)
c.1642G>A (p.Gly548Arg)
c.589G>A (p.Gly197Arg)
c.1435G>A (p.Gly479Arg)
c.955G>A (p.Gly319Arg)
 ClinVar dbSNP gnomAD v4
12g.47986363A=CA2034456941COL2A1c.1293T= (p.Val431=)
c.1500T= (p.Val500=)
n.424T=
c.1644T= (p.Val548=)
c.1641T= (p.Val547=)
c.588T= (p.Val196=)
c.1434T= (p.Val478=)
c.954T= (p.Val318=)
12g.47986363A>CCA479471174COL2A1c.1293T>G (p.Val431=)
c.1500T>G (p.Val500=)
n.424T>G
c.1644T>G (p.Val548=)
c.1641T>G (p.Val547=)
c.588T>G (p.Val196=)
c.1434T>G (p.Val478=)
c.954T>G (p.Val318=)
12g.47986363A>GCA479471176COL2A1c.1293T>C (p.Val431=)
c.1500T>C (p.Val500=)
n.424T>C
c.1644T>C (p.Val548=)
c.1641T>C (p.Val547=)
c.588T>C (p.Val196=)
c.1434T>C (p.Val478=)
c.954T>C (p.Val318=)
 gnomAD v4
12g.47986363A>TCA479471179COL2A1c.1293T>A (p.Val431=)
c.1500T>A (p.Val500=)
n.424T>A
c.1644T>A (p.Val548=)
c.1641T>A (p.Val547=)
c.588T>A (p.Val196=)
c.1434T>A (p.Val478=)
c.954T>A (p.Val318=)
 dbSNP gnomAD v2 gnomAD v4
12g.47986364A>CCA384552515COL2A1c.1292T>G (p.Val431Gly)
c.1499T>G (p.Val500Gly)
n.423T>G
c.1643T>G (p.Val548Gly)
c.1640T>G (p.Val547Gly)
c.587T>G (p.Val196Gly)
c.1433T>G (p.Val478Gly)
c.953T>G (p.Val318Gly)
 gnomAD v4
12g.47986364A>GCA384552518COL2A1c.1292T>C (p.Val431Ala)
c.1499T>C (p.Val500Ala)
n.423T>C
c.1643T>C (p.Val548Ala)
c.1640T>C (p.Val547Ala)
c.587T>C (p.Val196Ala)
c.1433T>C (p.Val478Ala)
c.953T>C (p.Val318Ala)
 ClinVar gnomAD v4
12g.47986364A>TCA384552516COL2A1c.1292T>A (p.Val431Asp)
c.1499T>A (p.Val500Asp)
n.423T>A
c.1643T>A (p.Val548Asp)
c.1640T>A (p.Val547Asp)
c.587T>A (p.Val196Asp)
c.1433T>A (p.Val478Asp)
c.953T>A (p.Val318Asp)
12g.47986365C>ACA384552523COL2A1c.1291G>T (p.Val431Phe)
c.1498G>T (p.Val500Phe)
n.422G>T
c.1642G>T (p.Val548Phe)
c.1639G>T (p.Val547Phe)
c.586G>T (p.Val196Phe)
c.1432G>T (p.Val478Phe)
c.952G>T (p.Val318Phe)
 dbSNP gnomAD v2 gnomAD v4
12g.47986365C=CA2034456948COL2A1c.1291G= (p.Val431=)
c.1498G= (p.Val500=)
n.422G=
c.1642G= (p.Val548=)
c.1639G= (p.Val547=)
c.586G= (p.Val196=)
c.1432G= (p.Val478=)
c.952G= (p.Val318=)
12g.47986365C>GCA384552527COL2A1c.1291G>C (p.Val431Leu)
c.1498G>C (p.Val500Leu)
n.422G>C
c.1642G>C (p.Val548Leu)
c.1639G>C (p.Val547Leu)
c.586G>C (p.Val196Leu)
c.1432G>C (p.Val478Leu)
c.952G>C (p.Val318Leu)
12g.47986365C>TCA6535468COL2A1c.1291G>A (p.Val431Ile)
c.1498G>A (p.Val500Ile)
n.422G>A
c.1642G>A (p.Val548Ile)
c.1639G>A (p.Val547Ile)
c.586G>A (p.Val196Ile)
c.1432G>A (p.Val478Ile)
c.952G>A (p.Val318Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47986366G>ACA6535469COL2A1c.1290C>T (p.Gly430=)
c.1497C>T (p.Gly499=)
n.421C>T
c.1641C>T (p.Gly547=)
c.1638C>T (p.Gly546=)
c.585C>T (p.Gly195=)
c.1431C>T (p.Gly477=)
c.951C>T (p.Gly317=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47986366G>CCA479471199COL2A1c.1290C>G (p.Gly430=)
c.1497C>G (p.Gly499=)
n.421C>G
c.1641C>G (p.Gly547=)
c.1638C>G (p.Gly546=)
c.585C>G (p.Gly195=)
c.1431C>G (p.Gly477=)
c.951C>G (p.Gly317=)
12g.47986366G=CA2034456960COL2A1c.1290C= (p.Gly430=)
c.1497C= (p.Gly499=)
n.421C=
c.1641C= (p.Gly547=)
c.1638C= (p.Gly546=)
c.585C= (p.Gly195=)
c.1431C= (p.Gly477=)
c.951C= (p.Gly317=)
12g.47986366G>TCA479471202COL2A1c.1290C>A (p.Gly430=)
c.1497C>A (p.Gly499=)
n.421C>A
c.1641C>A (p.Gly547=)
c.1638C>A (p.Gly546=)
c.585C>A (p.Gly195=)
c.1431C>A (p.Gly477=)
c.951C>A (p.Gly317=)
 gnomAD v4
12g.47986367C>ACA384552530COL2A1c.1289G>T (p.Gly430Val)
c.1496G>T (p.Gly499Val)
n.420G>T
c.1640G>T (p.Gly547Val)
c.1637G>T (p.Gly546Val)
c.584G>T (p.Gly195Val)
c.1430G>T (p.Gly477Val)
c.950G>T (p.Gly317Val)
 gnomAD v4
12g.47986367C=CA2034456964COL2A1c.1289G= (p.Gly430=)
c.1496G= (p.Gly499=)
n.420G=
c.1640G= (p.Gly547=)
c.1637G= (p.Gly546=)
c.584G= (p.Gly195=)
c.1430G= (p.Gly477=)
c.950G= (p.Gly317=)
12g.47986367C>GCA384552532COL2A1c.1289G>C (p.Gly430Ala)
c.1496G>C (p.Gly499Ala)
n.420G>C
c.1640G>C (p.Gly547Ala)
c.1637G>C (p.Gly546Ala)
c.584G>C (p.Gly195Ala)
c.1430G>C (p.Gly477Ala)
c.950G>C (p.Gly317Ala)
12g.47986367C>TCA384552535COL2A1c.1289G>A (p.Gly430Asp)
c.1496G>A (p.Gly499Asp)
n.420G>A
c.1640G>A (p.Gly547Asp)
c.1637G>A (p.Gly546Asp)
c.584G>A (p.Gly195Asp)
c.1430G>A (p.Gly477Asp)
c.950G>A (p.Gly317Asp)
 dbSNP gnomAD v3 gnomAD v4
12g.47986368C>ACA384552538COL2A1c.1288G>T (p.Gly430Cys)
c.1495G>T (p.Gly499Cys)
n.419G>T
c.1639G>T (p.Gly547Cys)
c.1636G>T (p.Gly546Cys)
c.583G>T (p.Gly195Cys)
c.1429G>T (p.Gly477Cys)
c.949G>T (p.Gly317Cys)
 gnomAD v4
12g.47986368C=CA2034456967COL2A1c.1288G= (p.Gly430=)
c.1495G= (p.Gly499=)
n.419G=
c.1639G= (p.Gly547=)
c.1636G= (p.Gly546=)
c.583G= (p.Gly195=)
c.1429G= (p.Gly477=)
c.949G= (p.Gly317=)
12g.47986368C>GCA384552543COL2A1c.1288G>C (p.Gly430Arg)
c.1495G>C (p.Gly499Arg)
n.419G>C
c.1639G>C (p.Gly547Arg)
c.1636G>C (p.Gly546Arg)
c.583G>C (p.Gly195Arg)
c.1429G>C (p.Gly477Arg)
c.949G>C (p.Gly317Arg)
12g.47986368C>TCA384552545COL2A1c.1288G>A (p.Gly430Ser)
c.1495G>A (p.Gly499Ser)
n.419G>A
c.1639G>A (p.Gly547Ser)
c.1636G>A (p.Gly546Ser)
c.583G>A (p.Gly195Ser)
c.1429G>A (p.Gly477Ser)
c.949G>A (p.Gly317Ser)
 dbSNP gnomAD v2
12g.47986369A>CCA479471226COL2A1c.1287T>G (p.Gly429=)
c.1494T>G (p.Gly498=)
n.418T>G
c.1638T>G (p.Gly546=)
c.1635T>G (p.Gly545=)
c.582T>G (p.Gly194=)
c.1428T>G (p.Gly476=)
c.948T>G (p.Gly316=)
12g.47986369A>GCA479471229COL2A1c.1287T>C (p.Gly429=)
c.1494T>C (p.Gly498=)
n.418T>C
c.1638T>C (p.Gly546=)
c.1635T>C (p.Gly545=)
c.582T>C (p.Gly194=)
c.1428T>C (p.Gly476=)
c.948T>C (p.Gly316=)
 gnomAD v4
12g.47986369A>TCA479471231COL2A1c.1287T>A (p.Gly429=)
c.1494T>A (p.Gly498=)
n.418T>A
c.1638T>A (p.Gly546=)
c.1635T>A (p.Gly545=)
c.582T>A (p.Gly194=)
c.1428T>A (p.Gly476=)
c.948T>A (p.Gly316=)
 gnomAD v4
12g.47986370C>ACA384552548COL2A1c.1286G>T (p.Gly429Val)
c.1493G>T (p.Gly498Val)
n.417G>T
c.1637G>T (p.Gly546Val)
c.1634G>T (p.Gly545Val)
c.581G>T (p.Gly194Val)
c.1427G>T (p.Gly476Val)
c.947G>T (p.Gly316Val)
 gnomAD v4
12g.47986370C>GCA384552556COL2A1c.1286G>C (p.Gly429Ala)
c.1493G>C (p.Gly498Ala)
n.417G>C
c.1637G>C (p.Gly546Ala)
c.1634G>C (p.Gly545Ala)
c.581G>C (p.Gly194Ala)
c.1427G>C (p.Gly476Ala)
c.947G>C (p.Gly316Ala)
12g.47986370C>TCA384552559COL2A1c.1286G>A (p.Gly429Asp)
c.1493G>A (p.Gly498Asp)
n.417G>A
c.1637G>A (p.Gly546Asp)
c.1634G>A (p.Gly545Asp)
c.581G>A (p.Gly194Asp)
c.1427G>A (p.Gly476Asp)
c.947G>A (p.Gly316Asp)
12g.47986371C>ACA384552568COL2A1c.1285G>T (p.Gly429Cys)
c.1492G>T (p.Gly498Cys)
n.416G>T
c.1636G>T (p.Gly546Cys)
c.1633G>T (p.Gly545Cys)
c.580G>T (p.Gly194Cys)
c.1426G>T (p.Gly476Cys)
c.946G>T (p.Gly316Cys)
 gnomAD v4
12g.47986371C>GCA384552567COL2A1c.1285G>C (p.Gly429Arg)
c.1492G>C (p.Gly498Arg)
n.416G>C
c.1636G>C (p.Gly546Arg)
c.1633G>C (p.Gly545Arg)
c.580G>C (p.Gly194Arg)
c.1426G>C (p.Gly476Arg)
c.946G>C (p.Gly316Arg)
 ClinVar dbSNP
12g.47986371C>TCA384552563COL2A1c.1285G>A (p.Gly429Ser)
c.1492G>A (p.Gly498Ser)
n.416G>A
c.1636G>A (p.Gly546Ser)
c.1633G>A (p.Gly545Ser)
c.580G>A (p.Gly194Ser)
c.1426G>A (p.Gly476Ser)
c.946G>A (p.Gly316Ser)
12g.47986372_47986375delCA2697559220COL2A1c.1282_1285del (p.Pro428ValfsTer?)
c.1489_1492del (p.Pro497ValfsTer?)
n.413_416del
c.1633_1636del (p.Pro545ValfsTer?)
c.1630_1633del (p.Pro544ValfsTer?)
c.577_580del (p.Pro193ValfsTer?)
c.1423_1426del (p.Pro475ValfsTer?)
c.943_946del (p.Pro315ValfsTer?)
 ClinVar
12g.47986372A=CA2034456971COL2A1c.1284T= (p.Pro428=)
c.1491T= (p.Pro497=)
n.415T=
c.1635T= (p.Pro545=)
c.1632T= (p.Pro544=)
c.579T= (p.Pro193=)
c.1425T= (p.Pro475=)
c.945T= (p.Pro315=)
12g.47986372A>CCA479471250COL2A1c.1284T>G (p.Pro428=)
c.1491T>G (p.Pro497=)
n.415T>G
c.1635T>G (p.Pro545=)
c.1632T>G (p.Pro544=)
c.579T>G (p.Pro193=)
c.1425T>G (p.Pro475=)
c.945T>G (p.Pro315=)
12g.47986372A>GCA479471251COL2A1c.1284T>C (p.Pro428=)
c.1491T>C (p.Pro497=)
n.415T>C
c.1635T>C (p.Pro545=)
c.1632T>C (p.Pro544=)
c.579T>C (p.Pro193=)
c.1425T>C (p.Pro475=)
c.945T>C (p.Pro315=)
 dbSNP gnomAD v2 gnomAD v4
12g.47986372A>TCA479471254COL2A1c.1284T>A (p.Pro428=)
c.1491T>A (p.Pro497=)
n.415T>A
c.1635T>A (p.Pro545=)
c.1632T>A (p.Pro544=)
c.579T>A (p.Pro193=)
c.1425T>A (p.Pro475=)
c.945T>A (p.Pro315=)
12g.47986373G>ACA384552574COL2A1c.1283C>T (p.Pro428Leu)
c.1490C>T (p.Pro497Leu)
n.414C>T
c.1634C>T (p.Pro545Leu)
c.1631C>T (p.Pro544Leu)
c.578C>T (p.Pro193Leu)
c.1424C>T (p.Pro475Leu)
c.944C>T (p.Pro315Leu)
12g.47986373G>CCA6535470COL2A1c.1283C>G (p.Pro428Arg)
c.1490C>G (p.Pro497Arg)
n.414C>G
c.1634C>G (p.Pro545Arg)
c.1631C>G (p.Pro544Arg)
c.578C>G (p.Pro193Arg)
c.1424C>G (p.Pro475Arg)
c.944C>G (p.Pro315Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47986373G=CA2034456974COL2A1c.1283C= (p.Pro428=)
c.1490C= (p.Pro497=)
n.414C=
c.1634C= (p.Pro545=)
c.1631C= (p.Pro544=)
c.578C= (p.Pro193=)
c.1424C= (p.Pro475=)
c.944C= (p.Pro315=)
12g.47986373G>TCA384552580COL2A1c.1283C>A (p.Pro428His)
c.1490C>A (p.Pro497His)
n.414C>A
c.1634C>A (p.Pro545His)
c.1631C>A (p.Pro544His)
c.578C>A (p.Pro193His)
c.1424C>A (p.Pro475His)
c.944C>A (p.Pro315His)
 gnomAD v4
12g.47986374G>ACA384552583COL2A1c.1282C>T (p.Pro428Ser)
c.1489C>T (p.Pro497Ser)
n.413C>T
c.1633C>T (p.Pro545Ser)
c.1630C>T (p.Pro544Ser)
c.577C>T (p.Pro193Ser)
c.1423C>T (p.Pro475Ser)
c.943C>T (p.Pro315Ser)
 gnomAD v4
12g.47986374G>CCA384552586COL2A1c.1282C>G (p.Pro428Ala)
c.1489C>G (p.Pro497Ala)
n.413C>G
c.1633C>G (p.Pro545Ala)
c.1630C>G (p.Pro544Ala)
c.577C>G (p.Pro193Ala)
c.1423C>G (p.Pro475Ala)
c.943C>G (p.Pro315Ala)
 gnomAD v4
12g.47986374G>TCA384552588COL2A1c.1282C>A (p.Pro428Thr)
c.1489C>A (p.Pro497Thr)
n.413C>A
c.1633C>A (p.Pro545Thr)
c.1630C>A (p.Pro544Thr)
c.577C>A (p.Pro193Thr)
c.1423C>A (p.Pro475Thr)
c.943C>A (p.Pro315Thr)
 gnomAD v4
12g.47986375C>ACA384552593COL2A1c.1281G>T (p.Glu427Asp)
c.1488G>T (p.Glu496Asp)
n.412G>T
c.1632G>T (p.Glu544Asp)
c.1629G>T (p.Glu543Asp)
c.576G>T (p.Glu192Asp)
c.1422G>T (p.Glu474Asp)
c.942G>T (p.Glu314Asp)
 ClinVar gnomAD v4
12g.47986375C=CA2034456979COL2A1c.1281G= (p.Glu427=)
c.1488G= (p.Glu496=)
n.412G=
c.1632G= (p.Glu544=)
c.1629G= (p.Glu543=)
c.576G= (p.Glu192=)
c.1422G= (p.Glu474=)
c.942G= (p.Glu314=)
12g.47986375C>GCA384552595COL2A1c.1281G>C (p.Glu427Asp)
c.1488G>C (p.Glu496Asp)
n.412G>C
c.1632G>C (p.Glu544Asp)
c.1629G>C (p.Glu543Asp)
c.576G>C (p.Glu192Asp)
c.1422G>C (p.Glu474Asp)
c.942G>C (p.Glu314Asp)
12g.47986375C>TCA479471275COL2A1c.1281G>A (p.Glu427=)
c.1488G>A (p.Glu496=)
n.412G>A
c.1632G>A (p.Glu544=)
c.1629G>A (p.Glu543=)
c.576G>A (p.Glu192=)
c.1422G>A (p.Glu474=)
c.942G>A (p.Glu314=)
 dbSNP gnomAD v2 gnomAD v4
12g.47986376T>ACA384552599COL2A1c.1280A>T (p.Glu427Val)
c.1487A>T (p.Glu496Val)
n.411A>T
c.1631A>T (p.Glu544Val)
c.1628A>T (p.Glu543Val)
c.575A>T (p.Glu192Val)
c.1421A>T (p.Glu474Val)
c.941A>T (p.Glu314Val)
 gnomAD v4
12g.47986376T>CCA384552608COL2A1c.1280A>G (p.Glu427Gly)
c.1487A>G (p.Glu496Gly)
n.411A>G
c.1631A>G (p.Glu544Gly)
c.1628A>G (p.Glu543Gly)
c.575A>G (p.Glu192Gly)
c.1421A>G (p.Glu474Gly)
c.941A>G (p.Glu314Gly)
12g.47986376T>GCA384552609COL2A1c.1280A>C (p.Glu427Ala)
c.1487A>C (p.Glu496Ala)
n.411A>C
c.1631A>C (p.Glu544Ala)
c.1628A>C (p.Glu543Ala)
c.575A>C (p.Glu192Ala)
c.1421A>C (p.Glu474Ala)
c.941A>C (p.Glu314Ala)
12g.47986377C>ACA384552613COL2A1c.1279G>T (p.Glu427Ter)
c.1486G>T (p.Glu496Ter)
n.410G>T
c.1630G>T (p.Glu544Ter)
c.1627G>T (p.Glu543Ter)
c.574G>T (p.Glu192Ter)
c.1420G>T (p.Glu474Ter)
c.940G>T (p.Glu314Ter)
 gnomAD v4
12g.47986377C=CA2034456984COL2A1c.1279G= (p.Glu427=)
c.1486G= (p.Glu496=)
n.410G=
c.1630G= (p.Glu544=)
c.1627G= (p.Glu543=)
c.574G= (p.Glu192=)
c.1420G= (p.Glu474=)
c.940G= (p.Glu314=)
12g.47986377C>GCA384552614COL2A1c.1279G>C (p.Glu427Gln)
c.1486G>C (p.Glu496Gln)
n.410G>C
c.1630G>C (p.Glu544Gln)
c.1627G>C (p.Glu543Gln)
c.574G>C (p.Glu192Gln)
c.1420G>C (p.Glu474Gln)
c.940G>C (p.Glu314Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986377C>TCA384552611COL2A1c.1279G>A (p.Glu427Lys)
c.1486G>A (p.Glu496Lys)
n.410G>A
c.1630G>A (p.Glu544Lys)
c.1627G>A (p.Glu543Lys)
c.574G>A (p.Glu192Lys)
c.1420G>A (p.Glu474Lys)
c.940G>A (p.Glu314Lys)
 gnomAD v4
12g.47986378T>ACA479471290COL2A1c.1278A>T (p.Gly426=)
c.1485A>T (p.Gly495=)
n.409A>T
c.1629A>T (p.Gly543=)
c.1626A>T (p.Gly542=)
c.573A>T (p.Gly191=)
c.1419A>T (p.Gly473=)
c.939A>T (p.Gly313=)
 gnomAD v4
12g.47986378T>CCA479471292COL2A1c.1278A>G (p.Gly426=)
c.1485A>G (p.Gly495=)
n.409A>G
c.1629A>G (p.Gly543=)
c.1626A>G (p.Gly542=)
c.573A>G (p.Gly191=)
c.1419A>G (p.Gly473=)
c.939A>G (p.Gly313=)
 gnomAD v4
12g.47986378T>GCA479471295COL2A1c.1278A>C (p.Gly426=)
c.1485A>C (p.Gly495=)
n.409A>C
c.1629A>C (p.Gly543=)
c.1626A>C (p.Gly542=)
c.573A>C (p.Gly191=)
c.1419A>C (p.Gly473=)
c.939A>C (p.Gly313=)
12g.47986379C>ACA384552616COL2A1c.1277G>T (p.Gly426Val)
c.1484G>T (p.Gly495Val)
n.408G>T
c.1628G>T (p.Gly543Val)
c.1625G>T (p.Gly542Val)
c.572G>T (p.Gly191Val)
c.1418G>T (p.Gly473Val)
c.938G>T (p.Gly313Val)
 gnomAD v4
12g.47986379C>GCA384552619COL2A1c.1277G>C (p.Gly426Ala)
c.1484G>C (p.Gly495Ala)
n.408G>C
c.1628G>C (p.Gly543Ala)
c.1625G>C (p.Gly542Ala)
c.572G>C (p.Gly191Ala)
c.1418G>C (p.Gly473Ala)
c.938G>C (p.Gly313Ala)
12g.47986379C>TCA384552620COL2A1c.1277G>A (p.Gly426Glu)
c.1484G>A (p.Gly495Glu)
n.408G>A
c.1628G>A (p.Gly543Glu)
c.1625G>A (p.Gly542Glu)
c.572G>A (p.Gly191Glu)
c.1418G>A (p.Gly473Glu)
c.938G>A (p.Gly313Glu)
 ClinVar dbSNP
12g.47986380C>ACA384552622COL2A1c.1276G>T (p.Gly426Ter)
c.1483G>T (p.Gly495Ter)
n.407G>T
c.1627G>T (p.Gly543Ter)
c.1624G>T (p.Gly542Ter)
c.571G>T (p.Gly191Ter)
c.1417G>T (p.Gly473Ter)
c.937G>T (p.Gly313Ter)
 gnomAD v4
12g.47986380C=CA2034456991COL2A1c.1276G= (p.Gly426=)
c.1483G= (p.Gly495=)
n.407G=
c.1627G= (p.Gly543=)
c.1624G= (p.Gly542=)
c.571G= (p.Gly191=)
c.1417G= (p.Gly473=)
c.937G= (p.Gly313=)
12g.47986380C>GCA384552624COL2A1c.1276G>C (p.Gly426Arg)
c.1483G>C (p.Gly495Arg)
n.407G>C
c.1627G>C (p.Gly543Arg)
c.1624G>C (p.Gly542Arg)
c.571G>C (p.Gly191Arg)
c.1417G>C (p.Gly473Arg)
c.937G>C (p.Gly313Arg)
12g.47986380C>TCA384552626COL2A1c.1276G>A (p.Gly426Arg)
c.1483G>A (p.Gly495Arg)
n.407G>A
c.1627G>A (p.Gly543Arg)
c.1624G>A (p.Gly542Arg)
c.571G>A (p.Gly191Arg)
c.1417G>A (p.Gly473Arg)
c.937G>A (p.Gly313Arg)
 dbSNP gnomAD v2
12g.47986381A>CCA479471320COL2A1c.1275T>G (p.Arg425=)
c.1482T>G (p.Arg494=)
n.406T>G
c.1626T>G (p.Arg542=)
c.1623T>G (p.Arg541=)
c.570T>G (p.Arg190=)
c.1416T>G (p.Arg472=)
c.936T>G (p.Arg312=)
 gnomAD v4
12g.47986381A>GCA479471317COL2A1c.1275T>C (p.Arg425=)
c.1482T>C (p.Arg494=)
n.406T>C
c.1626T>C (p.Arg542=)
c.1623T>C (p.Arg541=)
c.570T>C (p.Arg190=)
c.1416T>C (p.Arg472=)
c.936T>C (p.Arg312=)
 gnomAD v4
12g.47986381A>TCA479471322COL2A1c.1275T>A (p.Arg425=)
c.1482T>A (p.Arg494=)
n.406T>A
c.1626T>A (p.Arg542=)
c.1623T>A (p.Arg541=)
c.570T>A (p.Arg190=)
c.1416T>A (p.Arg472=)
c.936T>A (p.Arg312=)
12g.47986382C>ACA384552628COL2A1c.1274G>T (p.Arg425Leu)
c.1481G>T (p.Arg494Leu)
n.405G>T
c.1625G>T (p.Arg542Leu)
c.1622G>T (p.Arg541Leu)
c.569G>T (p.Arg190Leu)
c.1415G>T (p.Arg472Leu)
c.935G>T (p.Arg312Leu)
 gnomAD v4
12g.47986382C=CA2034456995COL2A1c.1274G= (p.Arg425=)
c.1481G= (p.Arg494=)
n.405G=
c.1625G= (p.Arg542=)
c.1622G= (p.Arg541=)
c.569G= (p.Arg190=)
c.1415G= (p.Arg472=)
c.935G= (p.Arg312=)
12g.47986382C>GCA384552630COL2A1c.1274G>C (p.Arg425Pro)
c.1481G>C (p.Arg494Pro)
n.405G>C
c.1625G>C (p.Arg542Pro)
c.1622G>C (p.Arg541Pro)
c.569G>C (p.Arg190Pro)
c.1415G>C (p.Arg472Pro)
c.935G>C (p.Arg312Pro)
 dbSNP
12g.47986382C>TCA6535471COL2A1c.1274G>A (p.Arg425His)
c.1481G>A (p.Arg494His)
n.405G>A
c.1625G>A (p.Arg542His)
c.1622G>A (p.Arg541His)
c.569G>A (p.Arg190His)
c.1415G>A (p.Arg472His)
c.935G>A (p.Arg312His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47986383G>ACA384552633COL2A1c.1273C>T (p.Arg425Cys)
c.1480C>T (p.Arg494Cys)
n.404C>T
c.1624C>T (p.Arg542Cys)
c.1621C>T (p.Arg541Cys)
c.568C>T (p.Arg190Cys)
c.1414C>T (p.Arg472Cys)
c.934C>T (p.Arg312Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986383G>CCA384552635COL2A1c.1273C>G (p.Arg425Gly)
c.1480C>G (p.Arg494Gly)
n.404C>G
c.1624C>G (p.Arg542Gly)
c.1621C>G (p.Arg541Gly)
c.568C>G (p.Arg190Gly)
c.1414C>G (p.Arg472Gly)
c.934C>G (p.Arg312Gly)
 gnomAD v4
12g.47986383G=CA2034456999COL2A1c.1273C= (p.Arg425=)
c.1480C= (p.Arg494=)
n.404C=
c.1624C= (p.Arg542=)
c.1621C= (p.Arg541=)
c.568C= (p.Arg190=)
c.1414C= (p.Arg472=)
c.934C= (p.Arg312=)
12g.47986383G>TCA384552636COL2A1c.1273C>A (p.Arg425Ser)
c.1480C>A (p.Arg494Ser)
n.404C>A
c.1624C>A (p.Arg542Ser)
c.1621C>A (p.Arg541Ser)
c.568C>A (p.Arg190Ser)
c.1414C>A (p.Arg472Ser)
c.934C>A (p.Arg312Ser)
 gnomAD v4
12g.47986384G>ACA479471335COL2A1c.1272C>T (p.Ala424=)
c.1479C>T (p.Ala493=)
n.403C>T
c.1623C>T (p.Ala541=)
c.1620C>T (p.Ala540=)
c.567C>T (p.Ala189=)
c.1413C>T (p.Ala471=)
c.933C>T (p.Ala311=)
 gnomAD v4
12g.47986384G>CCA479471338COL2A1c.1272C>G (p.Ala424=)
c.1479C>G (p.Ala493=)
n.403C>G
c.1623C>G (p.Ala541=)
c.1620C>G (p.Ala540=)
c.567C>G (p.Ala189=)
c.1413C>G (p.Ala471=)
c.933C>G (p.Ala311=)
12g.47986384G>TCA479471340COL2A1c.1272C>A (p.Ala424=)
c.1479C>A (p.Ala493=)
n.403C>A
c.1623C>A (p.Ala541=)
c.1620C>A (p.Ala540=)
c.567C>A (p.Ala189=)
c.1413C>A (p.Ala471=)
c.933C>A (p.Ala311=)
 gnomAD v4
12g.47986385G>ACA384552640COL2A1c.1271C>T (p.Ala424Val)
c.1478C>T (p.Ala493Val)
n.402C>T
c.1622C>T (p.Ala541Val)
c.1619C>T (p.Ala540Val)
c.566C>T (p.Ala189Val)
c.1412C>T (p.Ala471Val)
c.932C>T (p.Ala311Val)
 dbSNP gnomAD v2 gnomAD v4
12g.47986385G>CCA384552642COL2A1c.1271C>G (p.Ala424Gly)
c.1478C>G (p.Ala493Gly)
n.402C>G
c.1622C>G (p.Ala541Gly)
c.1619C>G (p.Ala540Gly)
c.566C>G (p.Ala189Gly)
c.1412C>G (p.Ala471Gly)
c.932C>G (p.Ala311Gly)
12g.47986385G=CA2034457003COL2A1c.1271C= (p.Ala424=)
c.1478C= (p.Ala493=)
n.402C=
c.1622C= (p.Ala541=)
c.1619C= (p.Ala540=)
c.566C= (p.Ala189=)
c.1412C= (p.Ala471=)
c.932C= (p.Ala311=)
12g.47986385G>TCA384552638COL2A1c.1271C>A (p.Ala424Asp)
c.1478C>A (p.Ala493Asp)
n.402C>A
c.1622C>A (p.Ala541Asp)
c.1619C>A (p.Ala540Asp)
c.566C>A (p.Ala189Asp)
c.1412C>A (p.Ala471Asp)
c.932C>A (p.Ala311Asp)
 gnomAD v4
12g.47986386C>ACA236527648COL2A1c.1270G>T (p.Ala424Ser)
c.1477G>T (p.Ala493Ser)
n.401G>T
c.1621G>T (p.Ala541Ser)
c.1618G>T (p.Ala540Ser)
c.565G>T (p.Ala189Ser)
c.1411G>T (p.Ala471Ser)
c.931G>T (p.Ala311Ser)
 dbSNP gnomAD v4
12g.47986386C=CA2034457011COL2A1c.1270G= (p.Ala424=)
c.1477G= (p.Ala493=)
n.401G=
c.1621G= (p.Ala541=)
c.1618G= (p.Ala540=)
c.565G= (p.Ala189=)
c.1411G= (p.Ala471=)
c.931G= (p.Ala311=)
12g.47986386C>GCA384552645COL2A1c.1270G>C (p.Ala424Pro)
c.1477G>C (p.Ala493Pro)
n.401G>C
c.1621G>C (p.Ala541Pro)
c.1618G>C (p.Ala540Pro)
c.565G>C (p.Ala189Pro)
c.1411G>C (p.Ala471Pro)
c.931G>C (p.Ala311Pro)
12g.47986386C>TCA384552646COL2A1c.1270G>A (p.Ala424Thr)
c.1477G>A (p.Ala493Thr)
n.401G>A
c.1621G>A (p.Ala541Thr)
c.1618G>A (p.Ala540Thr)
c.565G>A (p.Ala189Thr)
c.1411G>A (p.Ala471Thr)
c.931G>A (p.Ala311Thr)
 gnomAD v4
12g.47986387A=CA2034457019COL2A1c.1269T= (p.Gly423=)
c.1476T= (p.Gly492=)
n.400T=
c.1620T= (p.Gly540=)
c.1617T= (p.Gly539=)
c.564T= (p.Gly188=)
c.1410T= (p.Gly470=)
c.930T= (p.Gly310=)
12g.47986387A>CCA479471349COL2A1c.1269T>G (p.Gly423=)
c.1476T>G (p.Gly492=)
n.400T>G
c.1620T>G (p.Gly540=)
c.1617T>G (p.Gly539=)
c.564T>G (p.Gly188=)
c.1410T>G (p.Gly470=)
c.930T>G (p.Gly310=)
12g.47986387A>GCA479471350COL2A1c.1269T>C (p.Gly423=)
c.1476T>C (p.Gly492=)
n.400T>C
c.1620T>C (p.Gly540=)
c.1617T>C (p.Gly539=)
c.564T>C (p.Gly188=)
c.1410T>C (p.Gly470=)
c.930T>C (p.Gly310=)
 dbSNP
12g.47986387A>TCA479471352COL2A1c.1269T>A (p.Gly423=)
c.1476T>A (p.Gly492=)
n.400T>A
c.1620T>A (p.Gly540=)
c.1617T>A (p.Gly539=)
c.564T>A (p.Gly188=)
c.1410T>A (p.Gly470=)
c.930T>A (p.Gly310=)
12g.47986388C>ACA250684COL2A1c.1268G>T (p.Gly423Val)
c.1475G>T (p.Gly492Val)
n.399G>T
c.1619G>T (p.Gly540Val)
c.1616G>T (p.Gly539Val)
c.563G>T (p.Gly188Val)
c.1409G>T (p.Gly470Val)
c.929G>T (p.Gly310Val)
 ClinVar dbSNP
12g.47986388C=CA2034457025COL2A1c.1268G= (p.Gly423=)
c.1475G= (p.Gly492=)
n.399G=
c.1619G= (p.Gly540=)
c.1616G= (p.Gly539=)
c.563G= (p.Gly188=)
c.1409G= (p.Gly470=)
c.929G= (p.Gly310=)
12g.47986388C>GCA384552650COL2A1c.1268G>C (p.Gly423Ala)
c.1475G>C (p.Gly492Ala)
n.399G>C
c.1619G>C (p.Gly540Ala)
c.1616G>C (p.Gly539Ala)
c.563G>C (p.Gly188Ala)
c.1409G>C (p.Gly470Ala)
c.929G>C (p.Gly310Ala)
12g.47986388C>TCA384552651COL2A1c.1268G>A (p.Gly423Asp)
c.1475G>A (p.Gly492Asp)
n.399G>A
c.1619G>A (p.Gly540Asp)
c.1616G>A (p.Gly539Asp)
c.563G>A (p.Gly188Asp)
c.1409G>A (p.Gly470Asp)
c.929G>A (p.Gly310Asp)
 ClinVar gnomAD v4
12g.47986388_47986395delinsACA2695216328COL2A1c.1261_1268delinsT (p.Lys421LeufsTer?)
c.1468_1475delinsT (p.Lys490LeufsTer?)
n.392_399delinsT
c.1612_1619delinsT (p.Lys538LeufsTer?)
c.1609_1616delinsT (p.Lys537LeufsTer?)
c.556_563delinsT (p.Lys186LeufsTer?)
c.1402_1409delinsT (p.Lys468LeufsTer?)
c.922_929delinsT (p.Lys308LeufsTer?)
12g.47986389C>ACA384552654COL2A1c.1267G>T (p.Gly423Cys)
c.1474G>T (p.Gly492Cys)
n.398G>T
c.1618G>T (p.Gly540Cys)
c.1615G>T (p.Gly539Cys)
c.562G>T (p.Gly188Cys)
c.1408G>T (p.Gly470Cys)
c.928G>T (p.Gly310Cys)
 gnomAD v4
12g.47986389C>GCA384552657COL2A1c.1267G>C (p.Gly423Arg)
c.1474G>C (p.Gly492Arg)
n.398G>C
c.1618G>C (p.Gly540Arg)
c.1615G>C (p.Gly539Arg)
c.562G>C (p.Gly188Arg)
c.1408G>C (p.Gly470Arg)
c.928G>C (p.Gly310Arg)
12g.47986389C>TCA384552655COL2A1c.1267G>A (p.Gly423Ser)
c.1474G>A (p.Gly492Ser)
n.398G>A
c.1618G>A (p.Gly540Ser)
c.1615G>A (p.Gly539Ser)
c.562G>A (p.Gly188Ser)
c.1408G>A (p.Gly470Ser)
c.928G>A (p.Gly310Ser)
 gnomAD v4
12g.47986390T>ACA384552659COL2A1c.1266A>T (p.Arg422Ser)
c.1473A>T (p.Arg491Ser)
n.397A>T
c.1617A>T (p.Arg539Ser)
c.1614A>T (p.Arg538Ser)
c.561A>T (p.Arg187Ser)
c.1407A>T (p.Arg469Ser)
c.927A>T (p.Arg309Ser)
12g.47986390T>CCA479471372COL2A1c.1266A>G (p.Arg422=)
c.1473A>G (p.Arg491=)
n.397A>G
c.1617A>G (p.Arg539=)
c.1614A>G (p.Arg538=)
c.561A>G (p.Arg187=)
c.1407A>G (p.Arg469=)
c.927A>G (p.Arg309=)
 gnomAD v4
12g.47986390T>GCA384552660COL2A1c.1266A>C (p.Arg422Ser)
c.1473A>C (p.Arg491Ser)
n.397A>C
c.1617A>C (p.Arg539Ser)
c.1614A>C (p.Arg538Ser)
c.561A>C (p.Arg187Ser)
c.1407A>C (p.Arg469Ser)
c.927A>C (p.Arg309Ser)
12g.47986391C>ACA236527650COL2A1c.1265G>T (p.Arg422Ile)
c.1472G>T (p.Arg491Ile)
n.396G>T
c.1616G>T (p.Arg539Ile)
c.1613G>T (p.Arg538Ile)
c.560G>T (p.Arg187Ile)
c.1406G>T (p.Arg469Ile)
c.926G>T (p.Arg309Ile)
 dbSNP gnomAD v4
12g.47986391C=CA2034457031COL2A1c.1265G= (p.Arg422=)
c.1472G= (p.Arg491=)
n.396G=
c.1616G= (p.Arg539=)
c.1613G= (p.Arg538=)
c.560G= (p.Arg187=)
c.1406G= (p.Arg469=)
c.926G= (p.Arg309=)
12g.47986391C>GCA384552663COL2A1c.1265G>C (p.Arg422Thr)
c.1472G>C (p.Arg491Thr)
n.396G>C
c.1616G>C (p.Arg539Thr)
c.1613G>C (p.Arg538Thr)
c.560G>C (p.Arg187Thr)
c.1406G>C (p.Arg469Thr)
c.926G>C (p.Arg309Thr)
12g.47986391C>TCA384552665COL2A1c.1265G>A (p.Arg422Lys)
c.1472G>A (p.Arg491Lys)
n.396G>A
c.1616G>A (p.Arg539Lys)
c.1613G>A (p.Arg538Lys)
c.560G>A (p.Arg187Lys)
c.1406G>A (p.Arg469Lys)
c.926G>A (p.Arg309Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986392T>ACA384552670COL2A1c.1264A>T (p.Arg422Ter)
c.1471A>T (p.Arg491Ter)
n.395A>T
c.1615A>T (p.Arg539Ter)
c.1612A>T (p.Arg538Ter)
c.559A>T (p.Arg187Ter)
c.1405A>T (p.Arg469Ter)
c.925A>T (p.Arg309Ter)
12g.47986392T>CCA236527652COL2A1c.1264A>G (p.Arg422Gly)
c.1471A>G (p.Arg491Gly)
n.395A>G
c.1615A>G (p.Arg539Gly)
c.1612A>G (p.Arg538Gly)
c.559A>G (p.Arg187Gly)
c.1405A>G (p.Arg469Gly)
c.925A>G (p.Arg309Gly)
 dbSNP
12g.47986392T>GCA479471382COL2A1c.1264A>C (p.Arg422=)
c.1471A>C (p.Arg491=)
n.395A>C
c.1615A>C (p.Arg539=)
c.1612A>C (p.Arg538=)
c.559A>C (p.Arg187=)
c.1405A>C (p.Arg469=)
c.925A>C (p.Arg309=)
12g.47986392T=CA2034457040COL2A1c.1264A= (p.Arg422=)
c.1471A= (p.Arg491=)
n.395A=
c.1615A= (p.Arg539=)
c.1612A= (p.Arg538=)
c.559A= (p.Arg187=)
c.1405A= (p.Arg469=)
c.925A= (p.Arg309=)
12g.47986393C>ACA384552680COL2A1c.1263G>T (p.Lys421Asn)
c.1470G>T (p.Lys490Asn)
n.394G>T
c.1614G>T (p.Lys538Asn)
c.1611G>T (p.Lys537Asn)
c.558G>T (p.Lys186Asn)
c.1404G>T (p.Lys468Asn)
c.924G>T (p.Lys308Asn)
 gnomAD v4
12g.47986393C=CA2034457045COL2A1c.1263G= (p.Lys421=)
c.1470G= (p.Lys490=)
n.394G=
c.1614G= (p.Lys538=)
c.1611G= (p.Lys537=)
c.558G= (p.Lys186=)
c.1404G= (p.Lys468=)
c.924G= (p.Lys308=)
12g.47986393C>GCA384552682COL2A1c.1263G>C (p.Lys421Asn)
c.1470G>C (p.Lys490Asn)
n.394G>C
c.1614G>C (p.Lys538Asn)
c.1611G>C (p.Lys537Asn)
c.558G>C (p.Lys186Asn)
c.1404G>C (p.Lys468Asn)
c.924G>C (p.Lys308Asn)
 dbSNP gnomAD v2 gnomAD v4
12g.47986393C>TCA479471396COL2A1c.1263G>A (p.Lys421=)
c.1470G>A (p.Lys490=)
n.394G>A
c.1614G>A (p.Lys538=)
c.1611G>A (p.Lys537=)
c.558G>A (p.Lys186=)
c.1404G>A (p.Lys468=)
c.924G>A (p.Lys308=)
12g.47986394T>ACA384552684COL2A1c.1262A>T (p.Lys421Met)
c.1469A>T (p.Lys490Met)
n.393A>T
c.1613A>T (p.Lys538Met)
c.1610A>T (p.Lys537Met)
c.557A>T (p.Lys186Met)
c.1403A>T (p.Lys468Met)
c.923A>T (p.Lys308Met)
 gnomAD v4
12g.47986394T>CCA384552685COL2A1c.1262A>G (p.Lys421Arg)
c.1469A>G (p.Lys490Arg)
n.393A>G
c.1613A>G (p.Lys538Arg)
c.1610A>G (p.Lys537Arg)
c.557A>G (p.Lys186Arg)
c.1403A>G (p.Lys468Arg)
c.923A>G (p.Lys308Arg)
 gnomAD v4
12g.47986394T>GCA384552687COL2A1c.1262A>C (p.Lys421Thr)
c.1469A>C (p.Lys490Thr)
n.393A>C
c.1613A>C (p.Lys538Thr)
c.1610A>C (p.Lys537Thr)
c.557A>C (p.Lys186Thr)
c.1403A>C (p.Lys468Thr)
c.923A>C (p.Lys308Thr)
12g.47986395T>ACA384552690COL2A1c.1261A>T (p.Lys421Ter)
c.1468A>T (p.Lys490Ter)
n.392A>T
c.1612A>T (p.Lys538Ter)
c.1609A>T (p.Lys537Ter)
c.556A>T (p.Lys186Ter)
c.1402A>T (p.Lys468Ter)
c.922A>T (p.Lys308Ter)
12g.47986395T>CCA384552692COL2A1c.1261A>G (p.Lys421Glu)
c.1468A>G (p.Lys490Glu)
n.392A>G
c.1612A>G (p.Lys538Glu)
c.1609A>G (p.Lys537Glu)
c.556A>G (p.Lys186Glu)
c.1402A>G (p.Lys468Glu)
c.922A>G (p.Lys308Glu)
 gnomAD v4
12g.47986395T>GCA384552694COL2A1c.1261A>C (p.Lys421Gln)
c.1468A>C (p.Lys490Gln)
n.392A>C
c.1612A>C (p.Lys538Gln)
c.1609A>C (p.Lys537Gln)
c.556A>C (p.Lys186Gln)
c.1402A>C (p.Lys468Gln)
c.922A>C (p.Lys308Gln)
12g.47986396delCA2618501820COL2A1c.1260del (p.Lys421ArgfsTer?)
c.1467del (p.Lys490ArgfsTer?)
n.391del
c.1611del (p.Lys538ArgfsTer?)
c.1608del (p.Lys537ArgfsTer?)
c.555del (p.Lys186ArgfsTer?)
c.1401del (p.Lys468ArgfsTer?)
c.921del (p.Lys308ArgfsTer?)
 gnomAD v4
12g.47986396G>ACA479471416COL2A1c.1260C>T (p.Gly420=)
c.1467C>T (p.Gly489=)
n.391C>T
c.1611C>T (p.Gly537=)
c.1608C>T (p.Gly536=)
c.555C>T (p.Gly185=)
c.1401C>T (p.Gly467=)
c.921C>T (p.Gly307=)
 ClinVar dbSNP gnomAD v4
12g.47986396G>CCA479471424COL2A1c.1260C>G (p.Gly420=)
c.1467C>G (p.Gly489=)
n.391C>G
c.1611C>G (p.Gly537=)
c.1608C>G (p.Gly536=)
c.555C>G (p.Gly185=)
c.1401C>G (p.Gly467=)
c.921C>G (p.Gly307=)
12g.47986396G>TCA479471426COL2A1c.1260C>A (p.Gly420=)
c.1467C>A (p.Gly489=)
n.391C>A
c.1611C>A (p.Gly537=)
c.1608C>A (p.Gly536=)
c.555C>A (p.Gly185=)
c.1401C>A (p.Gly467=)
c.921C>A (p.Gly307=)
 gnomAD v4
12g.47986397C>ACA384552699COL2A1c.1259G>T (p.Gly420Val)
c.1466G>T (p.Gly489Val)
n.390G>T
c.1610G>T (p.Gly537Val)
c.1607G>T (p.Gly536Val)
c.554G>T (p.Gly185Val)
c.1400G>T (p.Gly467Val)
c.920G>T (p.Gly307Val)
 gnomAD v4
12g.47986397C>GCA384552701COL2A1c.1259G>C (p.Gly420Ala)
c.1466G>C (p.Gly489Ala)
n.390G>C
c.1610G>C (p.Gly537Ala)
c.1607G>C (p.Gly536Ala)
c.554G>C (p.Gly185Ala)
c.1400G>C (p.Gly467Ala)
c.920G>C (p.Gly307Ala)
12g.47986397C>TCA384552704COL2A1c.1259G>A (p.Gly420Asp)
c.1466G>A (p.Gly489Asp)
n.390G>A
c.1610G>A (p.Gly537Asp)
c.1607G>A (p.Gly536Asp)
c.554G>A (p.Gly185Asp)
c.1400G>A (p.Gly467Asp)
c.920G>A (p.Gly307Asp)
 gnomAD v4
12g.47986398C>ACA384552707COL2A1c.1258G>T (p.Gly420Cys)
c.1465G>T (p.Gly489Cys)
n.389G>T
c.1609G>T (p.Gly537Cys)
c.1606G>T (p.Gly536Cys)
c.553G>T (p.Gly185Cys)
c.1399G>T (p.Gly467Cys)
c.919G>T (p.Gly307Cys)
 gnomAD v4
12g.47986398C>GCA384552711COL2A1c.1258G>C (p.Gly420Arg)
c.1465G>C (p.Gly489Arg)
n.389G>C
c.1609G>C (p.Gly537Arg)
c.1606G>C (p.Gly536Arg)
c.553G>C (p.Gly185Arg)
c.1399G>C (p.Gly467Arg)
c.919G>C (p.Gly307Arg)
12g.47986398C>TCA384552715COL2A1c.1258G>A (p.Gly420Ser)
c.1465G>A (p.Gly489Ser)
n.389G>A
c.1609G>A (p.Gly537Ser)
c.1606G>A (p.Gly536Ser)
c.553G>A (p.Gly185Ser)
c.1399G>A (p.Gly467Ser)
c.919G>A (p.Gly307Ser)
12g.47986399T>ACA384552717COL2A1c.1257A>T (p.Glu419Asp)
c.1464A>T (p.Glu488Asp)
n.388A>T
c.1608A>T (p.Glu536Asp)
c.1605A>T (p.Glu535Asp)
c.552A>T (p.Glu184Asp)
c.1398A>T (p.Glu466Asp)
c.918A>T (p.Glu306Asp)
 gnomAD v4
12g.47986399T>CCA6535472COL2A1c.1257A>G (p.Glu419=)
c.1464A>G (p.Glu488=)
n.388A>G
c.1608A>G (p.Glu536=)
c.1605A>G (p.Glu535=)
c.552A>G (p.Glu184=)
c.1398A>G (p.Glu466=)
c.918A>G (p.Glu306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47986399T>GCA384552716COL2A1c.1257A>C (p.Glu419Asp)
c.1464A>C (p.Glu488Asp)
n.388A>C
c.1608A>C (p.Glu536Asp)
c.1605A>C (p.Glu535Asp)
c.552A>C (p.Glu184Asp)
c.1398A>C (p.Glu466Asp)
c.918A>C (p.Glu306Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.47986399T=CA2034457056COL2A1c.1257A= (p.Glu419=)
c.1464A= (p.Glu488=)
n.388A=
c.1608A= (p.Glu536=)
c.1605A= (p.Glu535=)
c.552A= (p.Glu184=)
c.1398A= (p.Glu466=)
c.918A= (p.Glu306=)
12g.47986400delCA2618501898COL2A1c.1257del (p.Gly420AlafsTer?)
c.1464del (p.Gly489AlafsTer?)
n.388del
c.1608del (p.Gly537AlafsTer?)
c.1605del (p.Gly536AlafsTer?)
c.552del (p.Gly185AlafsTer?)
c.1398del (p.Gly467AlafsTer?)
c.918del (p.Gly307AlafsTer?)
 gnomAD v4
12g.47986400T>ACA384552719COL2A1c.1256A>T (p.Glu419Val)
c.1463A>T (p.Glu488Val)
n.387A>T
c.1607A>T (p.Glu536Val)
c.1604A>T (p.Glu535Val)
c.551A>T (p.Glu184Val)
c.1397A>T (p.Glu466Val)
c.917A>T (p.Glu306Val)
12g.47986400T>CCA384552721COL2A1c.1256A>G (p.Glu419Gly)
c.1463A>G (p.Glu488Gly)
n.387A>G
c.1607A>G (p.Glu536Gly)
c.1604A>G (p.Glu535Gly)
c.551A>G (p.Glu184Gly)
c.1397A>G (p.Glu466Gly)
c.917A>G (p.Glu306Gly)
 gnomAD v4
12g.47986400T>GCA384552722COL2A1c.1256A>C (p.Glu419Ala)
c.1463A>C (p.Glu488Ala)
n.387A>C
c.1607A>C (p.Glu536Ala)
c.1604A>C (p.Glu535Ala)
c.551A>C (p.Glu184Ala)
c.1397A>C (p.Glu466Ala)
c.917A>C (p.Glu306Ala)
12g.47986401C>ACA384552723COL2A1c.1255G>T (p.Glu419Ter)
c.1462G>T (p.Glu488Ter)
n.386G>T
c.1606G>T (p.Glu536Ter)
c.1603G>T (p.Glu535Ter)
c.550G>T (p.Glu184Ter)
c.1396G>T (p.Glu466Ter)
c.916G>T (p.Glu306Ter)
 gnomAD v4
12g.47986401C>GCA384552724COL2A1c.1255G>C (p.Glu419Gln)
c.1462G>C (p.Glu488Gln)
n.386G>C
c.1606G>C (p.Glu536Gln)
c.1603G>C (p.Glu535Gln)
c.550G>C (p.Glu184Gln)
c.1396G>C (p.Glu466Gln)
c.916G>C (p.Glu306Gln)
12g.47986401C>TCA384552726COL2A1c.1255G>A (p.Glu419Lys)
c.1462G>A (p.Glu488Lys)
n.386G>A
c.1606G>A (p.Glu536Lys)
c.1603G>A (p.Glu535Lys)
c.550G>A (p.Glu184Lys)
c.1396G>A (p.Glu466Lys)
c.916G>A (p.Glu306Lys)
12g.47986402T>ACA384552729COL2A1c.1254A>T (p.Glu418Asp)
c.1461A>T (p.Glu487Asp)
n.385A>T
c.1605A>T (p.Glu535Asp)
c.1602A>T (p.Glu534Asp)
c.549A>T (p.Glu183Asp)
c.1395A>T (p.Glu465Asp)
c.915A>T (p.Glu305Asp)
 gnomAD v4
12g.47986402T>CCA479471463COL2A1c.1254A>G (p.Glu418=)
c.1461A>G (p.Glu487=)
n.385A>G
c.1605A>G (p.Glu535=)
c.1602A>G (p.Glu534=)
c.549A>G (p.Glu183=)
c.1395A>G (p.Glu465=)
c.915A>G (p.Glu305=)
12g.47986402T>GCA384552730COL2A1c.1254A>C (p.Glu418Asp)
c.1461A>C (p.Glu487Asp)
n.385A>C
c.1605A>C (p.Glu535Asp)
c.1602A>C (p.Glu534Asp)
c.549A>C (p.Glu183Asp)
c.1395A>C (p.Glu465Asp)
c.915A>C (p.Glu305Asp)
12g.47986403T>ACA384552734COL2A1c.1253A>T (p.Glu418Val)
c.1460A>T (p.Glu487Val)
n.384A>T
c.1604A>T (p.Glu535Val)
c.1601A>T (p.Glu534Val)
c.548A>T (p.Glu183Val)
c.1394A>T (p.Glu465Val)
c.914A>T (p.Glu305Val)
12g.47986403T>CCA384552735COL2A1c.1253A>G (p.Glu418Gly)
c.1460A>G (p.Glu487Gly)
n.384A>G
c.1604A>G (p.Glu535Gly)
c.1601A>G (p.Glu534Gly)
c.548A>G (p.Glu183Gly)
c.1394A>G (p.Glu465Gly)
c.914A>G (p.Glu305Gly)
 dbSNP gnomAD v4
12g.47986403T>GCA384552736COL2A1c.1253A>C (p.Glu418Ala)
c.1460A>C (p.Glu487Ala)
n.384A>C
c.1604A>C (p.Glu535Ala)
c.1601A>C (p.Glu534Ala)
c.548A>C (p.Glu183Ala)
c.1394A>C (p.Glu465Ala)
c.914A>C (p.Glu305Ala)
12g.47986403T=CA2034457060COL2A1c.1253A= (p.Glu418=)
c.1460A= (p.Glu487=)
n.384A=
c.1604A= (p.Glu535=)
c.1601A= (p.Glu534=)
c.548A= (p.Glu183=)
c.1394A= (p.Glu465=)
c.914A= (p.Glu305=)
12g.47986404C>ACA384552742COL2A1c.1252G>T (p.Glu418Ter)
c.1459G>T (p.Glu487Ter)
n.383G>T
c.1603G>T (p.Glu535Ter)
c.1600G>T (p.Glu534Ter)
c.547G>T (p.Glu183Ter)
c.1393G>T (p.Glu465Ter)
c.913G>T (p.Glu305Ter)
 gnomAD v4
12g.47986404C=CA2034457064COL2A1c.1252G= (p.Glu418=)
c.1459G= (p.Glu487=)
n.383G=
c.1603G= (p.Glu535=)
c.1600G= (p.Glu534=)
c.547G= (p.Glu183=)
c.1393G= (p.Glu465=)
c.913G= (p.Glu305=)
12g.47986404C>GCA384552743COL2A1c.1252G>C (p.Glu418Gln)
c.1459G>C (p.Glu487Gln)
n.383G>C
c.1603G>C (p.Glu535Gln)
c.1600G>C (p.Glu534Gln)
c.547G>C (p.Glu183Gln)
c.1393G>C (p.Glu465Gln)
c.913G>C (p.Glu305Gln)
12g.47986404C>TCA384552739COL2A1c.1252G>A (p.Glu418Lys)
c.1459G>A (p.Glu487Lys)
n.383G>A
c.1603G>A (p.Glu535Lys)
c.1600G>A (p.Glu534Lys)
c.547G>A (p.Glu183Lys)
c.1393G>A (p.Glu465Lys)
c.913G>A (p.Glu305Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986405A=CA2034457069COL2A1c.1251T= (p.Gly417=)
c.1458T= (p.Gly486=)
n.382T=
c.1602T= (p.Gly534=)
c.1599T= (p.Gly533=)
c.546T= (p.Gly182=)
c.1392T= (p.Gly464=)
c.912T= (p.Gly304=)
12g.47986405A>CCA479471479COL2A1c.1251T>G (p.Gly417=)
c.1458T>G (p.Gly486=)
n.382T>G
c.1602T>G (p.Gly534=)
c.1599T>G (p.Gly533=)
c.546T>G (p.Gly182=)
c.1392T>G (p.Gly464=)
c.912T>G (p.Gly304=)
 dbSNP gnomAD v4
12g.47986405A>GCA479471483COL2A1c.1251T>C (p.Gly417=)
c.1458T>C (p.Gly486=)
n.382T>C
c.1602T>C (p.Gly534=)
c.1599T>C (p.Gly533=)
c.546T>C (p.Gly182=)
c.1392T>C (p.Gly464=)
c.912T>C (p.Gly304=)
12g.47986405A>TCA479471481COL2A1c.1251T>A (p.Gly417=)
c.1458T>A (p.Gly486=)
n.382T>A
c.1602T>A (p.Gly534=)
c.1599T>A (p.Gly533=)
c.546T>A (p.Gly182=)
c.1392T>A (p.Gly464=)
c.912T>A (p.Gly304=)
12g.47986406C>ACA384552747COL2A1c.1250G>T (p.Gly417Val)
c.1457G>T (p.Gly486Val)
n.381G>T
c.1601G>T (p.Gly534Val)
c.1598G>T (p.Gly533Val)
c.545G>T (p.Gly182Val)
c.1391G>T (p.Gly464Val)
c.911G>T (p.Gly304Val)
 gnomAD v4
12g.47986406C=CA2034457076COL2A1c.1250G= (p.Gly417=)
c.1457G= (p.Gly486=)
n.381G=
c.1601G= (p.Gly534=)
c.1598G= (p.Gly533=)
c.545G= (p.Gly182=)
c.1391G= (p.Gly464=)
c.911G= (p.Gly304=)
12g.47986406C>GCA384552750COL2A1c.1250G>C (p.Gly417Ala)
c.1457G>C (p.Gly486Ala)
n.381G>C
c.1601G>C (p.Gly534Ala)
c.1598G>C (p.Gly533Ala)
c.545G>C (p.Gly182Ala)
c.1391G>C (p.Gly464Ala)
c.911G>C (p.Gly304Ala)
12g.47986406C>TCA384552753COL2A1c.1250G>A (p.Gly417Asp)
c.1457G>A (p.Gly486Asp)
n.381G>A
c.1601G>A (p.Gly534Asp)
c.1598G>A (p.Gly533Asp)
c.545G>A (p.Gly182Asp)
c.1391G>A (p.Gly464Asp)
c.911G>A (p.Gly304Asp)
 ClinVar dbSNP
12g.47986407C>ACA384552756COL2A1c.1249G>T (p.Gly417Cys)
c.1456G>T (p.Gly486Cys)
n.380G>T
c.1600G>T (p.Gly534Cys)
c.1597G>T (p.Gly533Cys)
c.544G>T (p.Gly182Cys)
c.1390G>T (p.Gly464Cys)
c.910G>T (p.Gly304Cys)
 gnomAD v4
12g.47986407C>GCA384552758COL2A1c.1249G>C (p.Gly417Arg)
c.1456G>C (p.Gly486Arg)
n.380G>C
c.1600G>C (p.Gly534Arg)
c.1597G>C (p.Gly533Arg)
c.544G>C (p.Gly182Arg)
c.1390G>C (p.Gly464Arg)
c.910G>C (p.Gly304Arg)
12g.47986407C>TCA384552761COL2A1c.1249G>A (p.Gly417Ser)
c.1456G>A (p.Gly486Ser)
n.380G>A
c.1600G>A (p.Gly534Ser)
c.1597G>A (p.Gly533Ser)
c.544G>A (p.Gly182Ser)
c.1390G>A (p.Gly464Ser)
c.910G>A (p.Gly304Ser)
 gnomAD v4
12g.47986408A>CCA479471496COL2A1c.1248T>G (p.Ala416=)
c.1455T>G (p.Ala485=)
n.379T>G
c.1599T>G (p.Ala533=)
c.1596T>G (p.Ala532=)
c.543T>G (p.Ala181=)
c.1389T>G (p.Ala463=)
c.909T>G (p.Ala303=)
12g.47986408A>GCA479471500COL2A1c.1248T>C (p.Ala416=)
c.1455T>C (p.Ala485=)
n.379T>C
c.1599T>C (p.Ala533=)
c.1596T>C (p.Ala532=)
c.543T>C (p.Ala181=)
c.1389T>C (p.Ala463=)
c.909T>C (p.Ala303=)
12g.47986408A>TCA479471508COL2A1c.1248T>A (p.Ala416=)
c.1455T>A (p.Ala485=)
n.379T>A
c.1599T>A (p.Ala533=)
c.1596T>A (p.Ala532=)
c.543T>A (p.Ala181=)
c.1389T>A (p.Ala463=)
c.909T>A (p.Ala303=)
12g.47986409G>ACA384552765COL2A1c.1247C>T (p.Ala416Val)
c.1454C>T (p.Ala485Val)
n.378C>T
c.1598C>T (p.Ala533Val)
c.1595C>T (p.Ala532Val)
c.542C>T (p.Ala181Val)
c.1388C>T (p.Ala463Val)
c.908C>T (p.Ala303Val)
 dbSNP
12g.47986409G>CCA384552767COL2A1c.1247C>G (p.Ala416Gly)
c.1454C>G (p.Ala485Gly)
n.378C>G
c.1598C>G (p.Ala533Gly)
c.1595C>G (p.Ala532Gly)
c.542C>G (p.Ala181Gly)
c.1388C>G (p.Ala463Gly)
c.908C>G (p.Ala303Gly)
12g.47986409G>TCA384552769COL2A1c.1247C>A (p.Ala416Asp)
c.1454C>A (p.Ala485Asp)
n.378C>A
c.1598C>A (p.Ala533Asp)
c.1595C>A (p.Ala532Asp)
c.542C>A (p.Ala181Asp)
c.1388C>A (p.Ala463Asp)
c.908C>A (p.Ala303Asp)
 gnomAD v4
12g.47986410C>ACA236527656COL2A1c.1246G>T (p.Ala416Ser)
c.1453G>T (p.Ala485Ser)
n.377G>T
c.1597G>T (p.Ala533Ser)
c.1594G>T (p.Ala532Ser)
c.541G>T (p.Ala181Ser)
c.1387G>T (p.Ala463Ser)
c.907G>T (p.Ala303Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47986410C=CA2034457084COL2A1c.1246G= (p.Ala416=)
c.1453G= (p.Ala485=)
n.377G=
c.1597G= (p.Ala533=)
c.1594G= (p.Ala532=)
c.541G= (p.Ala181=)
c.1387G= (p.Ala463=)
c.907G= (p.Ala303=)
12g.47986410C>GCA384552775COL2A1c.1246G>C (p.Ala416Pro)
c.1453G>C (p.Ala485Pro)
n.377G>C
c.1597G>C (p.Ala533Pro)
c.1594G>C (p.Ala532Pro)
c.541G>C (p.Ala181Pro)
c.1387G>C (p.Ala463Pro)
c.907G>C (p.Ala303Pro)
 gnomAD v4
12g.47986410C>TCA236527658COL2A1c.1246G>A (p.Ala416Thr)
c.1453G>A (p.Ala485Thr)
n.377G>A
c.1597G>A (p.Ala533Thr)
c.1594G>A (p.Ala532Thr)
c.541G>A (p.Ala181Thr)
c.1387G>A (p.Ala463Thr)
c.907G>A (p.Ala303Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.47986411G>ACA6535473COL2A1c.1245C>T (p.Pro415=)
c.1452C>T (p.Pro484=)
n.376C>T
c.1596C>T (p.Pro532=)
c.1593C>T (p.Pro531=)
c.540C>T (p.Pro180=)
c.1386C>T (p.Pro462=)
c.906C>T (p.Pro302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47986411G>CCA479471527COL2A1c.1245C>G (p.Pro415=)
c.1452C>G (p.Pro484=)
n.376C>G
c.1596C>G (p.Pro532=)
c.1593C>G (p.Pro531=)
c.540C>G (p.Pro180=)
c.1386C>G (p.Pro462=)
c.906C>G (p.Pro302=)
12g.47986411G=CA2034457092COL2A1c.1245C= (p.Pro415=)
c.1452C= (p.Pro484=)
n.376C=
c.1596C= (p.Pro532=)
c.1593C= (p.Pro531=)
c.540C= (p.Pro180=)
c.1386C= (p.Pro462=)
c.906C= (p.Pro302=)
12g.47986411G>TCA479471522COL2A1c.1245C>A (p.Pro415=)
c.1452C>A (p.Pro484=)
n.376C>A
c.1596C>A (p.Pro532=)
c.1593C>A (p.Pro531=)
c.540C>A (p.Pro180=)
c.1386C>A (p.Pro462=)
c.906C>A (p.Pro302=)
 gnomAD v4
12g.47986412G>ACA384552788COL2A1c.1244C>T (p.Pro415Leu)
c.1451C>T (p.Pro484Leu)
n.375C>T
c.1595C>T (p.Pro532Leu)
c.1592C>T (p.Pro531Leu)
c.539C>T (p.Pro180Leu)
c.1385C>T (p.Pro462Leu)
c.905C>T (p.Pro302Leu)
 gnomAD v4
12g.47986412G>CCA384552785COL2A1c.1244C>G (p.Pro415Arg)
c.1451C>G (p.Pro484Arg)
n.375C>G
c.1595C>G (p.Pro532Arg)
c.1592C>G (p.Pro531Arg)
c.539C>G (p.Pro180Arg)
c.1385C>G (p.Pro462Arg)
c.905C>G (p.Pro302Arg)
12g.47986412G=CA2034457098COL2A1c.1244C= (p.Pro415=)
c.1451C= (p.Pro484=)
n.375C=
c.1595C= (p.Pro532=)
c.1592C= (p.Pro531=)
c.539C= (p.Pro180=)
c.1385C= (p.Pro462=)
c.905C= (p.Pro302=)
12g.47986412G>TCA384552783COL2A1c.1244C>A (p.Pro415His)
c.1451C>A (p.Pro484His)
n.375C>A
c.1595C>A (p.Pro532His)
c.1592C>A (p.Pro531His)
c.539C>A (p.Pro180His)
c.1385C>A (p.Pro462His)
c.905C>A (p.Pro302His)
 dbSNP gnomAD v2 gnomAD v4
12g.47986413G>ACA384552791COL2A1c.1243C>T (p.Pro415Ser)
c.1450C>T (p.Pro484Ser)
n.374C>T
c.1594C>T (p.Pro532Ser)
c.1591C>T (p.Pro531Ser)
c.538C>T (p.Pro180Ser)
c.1384C>T (p.Pro462Ser)
c.904C>T (p.Pro302Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986413G>CCA384552793COL2A1c.1243C>G (p.Pro415Ala)
c.1450C>G (p.Pro484Ala)
n.374C>G
c.1594C>G (p.Pro532Ala)
c.1591C>G (p.Pro531Ala)
c.538C>G (p.Pro180Ala)
c.1384C>G (p.Pro462Ala)
c.904C>G (p.Pro302Ala)
12g.47986413G=CA2034457101COL2A1c.1243C= (p.Pro415=)
c.1450C= (p.Pro484=)
n.374C=
c.1594C= (p.Pro532=)
c.1591C= (p.Pro531=)
c.538C= (p.Pro180=)
c.1384C= (p.Pro462=)
c.904C= (p.Pro302=)
12g.47986413G>TCA384552804COL2A1c.1243C>A (p.Pro415Thr)
c.1450C>A (p.Pro484Thr)
n.374C>A
c.1594C>A (p.Pro532Thr)
c.1591C>A (p.Pro531Thr)
c.538C>A (p.Pro180Thr)
c.1384C>A (p.Pro462Thr)
c.904C>A (p.Pro302Thr)
 ClinVar
12g.47986414T>ACA479471557COL2A1c.1242A>T (p.Gly414=)
c.1449A>T (p.Gly483=)
n.373A>T
c.1593A>T (p.Gly531=)
c.1590A>T (p.Gly530=)
c.537A>T (p.Gly179=)
c.1383A>T (p.Gly461=)
c.903A>T (p.Gly301=)
 gnomAD v4
12g.47986414T>CCA479471560COL2A1c.1242A>G (p.Gly414=)
c.1449A>G (p.Gly483=)
n.373A>G
c.1593A>G (p.Gly531=)
c.1590A>G (p.Gly530=)
c.537A>G (p.Gly179=)
c.1383A>G (p.Gly461=)
c.903A>G (p.Gly301=)
 gnomAD v4
12g.47986414T>GCA479471562COL2A1c.1242A>C (p.Gly414=)
c.1449A>C (p.Gly483=)
n.373A>C
c.1593A>C (p.Gly531=)
c.1590A>C (p.Gly530=)
c.537A>C (p.Gly179=)
c.1383A>C (p.Gly461=)
c.903A>C (p.Gly301=)
12g.47986415C>ACA384552809COL2A1c.1241G>T (p.Gly414Val)
c.1448G>T (p.Gly483Val)
n.372G>T
c.1592G>T (p.Gly531Val)
c.1589G>T (p.Gly530Val)
c.536G>T (p.Gly179Val)
c.1382G>T (p.Gly461Val)
c.902G>T (p.Gly301Val)
 gnomAD v4
12g.47986415C>GCA384552810COL2A1c.1241G>C (p.Gly414Ala)
c.1448G>C (p.Gly483Ala)
n.372G>C
c.1592G>C (p.Gly531Ala)
c.1589G>C (p.Gly530Ala)
c.536G>C (p.Gly179Ala)
c.1382G>C (p.Gly461Ala)
c.902G>C (p.Gly301Ala)
12g.47986415C>TCA384552813COL2A1c.1241G>A (p.Gly414Glu)
c.1448G>A (p.Gly483Glu)
n.372G>A
c.1592G>A (p.Gly531Glu)
c.1589G>A (p.Gly530Glu)
c.536G>A (p.Gly179Glu)
c.1382G>A (p.Gly461Glu)
c.902G>A (p.Gly301Glu)
 gnomAD v4 COSMIC COSMIC
12g.47986416C>ACA384552820COL2A1c.1240G>T (p.Gly414Ter)
c.1447G>T (p.Gly483Ter)
n.371G>T
c.1591G>T (p.Gly531Ter)
c.1588G>T (p.Gly530Ter)
c.535G>T (p.Gly179Ter)
c.1381G>T (p.Gly461Ter)
c.901G>T (p.Gly301Ter)
 gnomAD v4
12g.47986416C>GCA384552824COL2A1c.1240G>C (p.Gly414Arg)
c.1447G>C (p.Gly483Arg)
n.371G>C
c.1591G>C (p.Gly531Arg)
c.1588G>C (p.Gly530Arg)
c.535G>C (p.Gly179Arg)
c.1381G>C (p.Gly461Arg)
c.901G>C (p.Gly301Arg)
12g.47986416C>TCA384552826COL2A1c.1240G>A (p.Gly414Arg)
c.1447G>A (p.Gly483Arg)
n.371G>A
c.1591G>A (p.Gly531Arg)
c.1588G>A (p.Gly530Arg)
c.535G>A (p.Gly179Arg)
c.1381G>A (p.Gly461Arg)
c.901G>A (p.Gly301Arg)
 gnomAD v4
12g.47986417A=CA2034457109COL2A1c.1239T= (p.Pro413=)
c.1446T= (p.Pro482=)
n.370T=
c.1590T= (p.Pro530=)
c.1587T= (p.Pro529=)
c.534T= (p.Pro178=)
c.1380T= (p.Pro460=)
c.900T= (p.Pro300=)
12g.47986417A>CCA479471968COL2A1c.1239T>G (p.Pro413=)
c.1446T>G (p.Pro482=)
n.370T>G
c.1590T>G (p.Pro530=)
c.1587T>G (p.Pro529=)
c.534T>G (p.Pro178=)
c.1380T>G (p.Pro460=)
c.900T>G (p.Pro300=)
12g.47986417A>GCA479471970COL2A1c.1239T>C (p.Pro413=)
c.1446T>C (p.Pro482=)
n.370T>C
c.1590T>C (p.Pro530=)
c.1587T>C (p.Pro529=)
c.534T>C (p.Pro178=)
c.1380T>C (p.Pro460=)
c.900T>C (p.Pro300=)
 dbSNP gnomAD v4
12g.47986417A>TCA479471971COL2A1c.1239T>A (p.Pro413=)
c.1446T>A (p.Pro482=)
n.370T>A
c.1590T>A (p.Pro530=)
c.1587T>A (p.Pro529=)
c.534T>A (p.Pro178=)
c.1380T>A (p.Pro460=)
c.900T>A (p.Pro300=)
 gnomAD v4
12g.47986418G>ACA384552829COL2A1c.1238C>T (p.Pro413Leu)
c.1445C>T (p.Pro482Leu)
n.369C>T
c.1589C>T (p.Pro530Leu)
c.1586C>T (p.Pro529Leu)
c.533C>T (p.Pro178Leu)
c.1379C>T (p.Pro460Leu)
c.899C>T (p.Pro300Leu)
 gnomAD v4
12g.47986418G>CCA384552832COL2A1c.1238C>G (p.Pro413Arg)
c.1445C>G (p.Pro482Arg)
n.369C>G
c.1589C>G (p.Pro530Arg)
c.1586C>G (p.Pro529Arg)
c.533C>G (p.Pro178Arg)
c.1379C>G (p.Pro460Arg)
c.899C>G (p.Pro300Arg)
12g.47986418G>TCA384552833COL2A1c.1238C>A (p.Pro413His)
c.1445C>A (p.Pro482His)
n.369C>A
c.1589C>A (p.Pro530His)
c.1586C>A (p.Pro529His)
c.533C>A (p.Pro178His)
c.1379C>A (p.Pro460His)
c.899C>A (p.Pro300His)
 gnomAD v4
12g.47986421delCA2618502015COL2A1c.1238del (p.Pro413LeufsTer?)
c.1445del (p.Pro482LeufsTer?)
n.369del
c.1589del (p.Pro530LeufsTer?)
c.1586del (p.Pro529LeufsTer?)
c.533del (p.Pro178LeufsTer?)
c.1379del (p.Pro460LeufsTer?)
c.899del (p.Pro300LeufsTer?)
 gnomAD v4
12g.47986419G>ACA384552843COL2A1c.1237C>T (p.Pro413Ser)
c.1444C>T (p.Pro482Ser)
n.368C>T
c.1588C>T (p.Pro530Ser)
c.1585C>T (p.Pro529Ser)
c.532C>T (p.Pro178Ser)
c.1378C>T (p.Pro460Ser)
c.898C>T (p.Pro300Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986419G>CCA384552841COL2A1c.1237C>G (p.Pro413Ala)
c.1444C>G (p.Pro482Ala)
n.368C>G
c.1588C>G (p.Pro530Ala)
c.1585C>G (p.Pro529Ala)
c.532C>G (p.Pro178Ala)
c.1378C>G (p.Pro460Ala)
c.898C>G (p.Pro300Ala)
12g.47986419G=CA2034457117COL2A1c.1237C= (p.Pro413=)
c.1444C= (p.Pro482=)
n.368C=
c.1588C= (p.Pro530=)
c.1585C= (p.Pro529=)
c.532C= (p.Pro178=)
c.1378C= (p.Pro460=)
c.898C= (p.Pro300=)
12g.47986419G>TCA384552839COL2A1c.1237C>A (p.Pro413Thr)
c.1444C>A (p.Pro482Thr)
n.368C>A
c.1588C>A (p.Pro530Thr)
c.1585C>A (p.Pro529Thr)
c.532C>A (p.Pro178Thr)
c.1378C>A (p.Pro460Thr)
c.898C>A (p.Pro300Thr)
 gnomAD v4
12g.47986419_47986447delinsGGGCTCCCTGGGGGCCAGCAGGGCCCTGACA2034457115COL2A1c.1213-4_1237delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
c.1420-4_1444delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
n.344-4_368delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
c.1564-4_1588delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
c.1561-4_1585delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
c.508-4_532delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
c.1354-4_1378delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
c.874-4_898delinsTCAGGGCCCTGCTGGCCCCCAGGGAGCCC
12g.47986420G>ACA479471981COL2A1c.1236C>T (p.Ala412=)
c.1443C>T (p.Ala481=)
n.367C>T
c.1587C>T (p.Ala529=)
c.1584C>T (p.Ala528=)
c.531C>T (p.Ala177=)
c.1377C>T (p.Ala459=)
c.897C>T (p.Ala299=)
 dbSNP gnomAD v2 gnomAD v4
12g.47986420G>CCA479471979COL2A1c.1236C>G (p.Ala412=)
c.1443C>G (p.Ala481=)
n.367C>G
c.1587C>G (p.Ala529=)
c.1584C>G (p.Ala528=)
c.531C>G (p.Ala177=)
c.1377C>G (p.Ala459=)
c.897C>G (p.Ala299=)
12g.47986420G=CA2034457123COL2A1c.1236C= (p.Ala412=)
c.1443C= (p.Ala481=)
n.367C=
c.1587C= (p.Ala529=)
c.1584C= (p.Ala528=)
c.531C= (p.Ala177=)
c.1377C= (p.Ala459=)
c.897C= (p.Ala299=)
12g.47986420G>TCA6535474COL2A1c.1236C>A (p.Ala412=)
c.1443C>A (p.Ala481=)
n.367C>A
c.1587C>A (p.Ala529=)
c.1584C>A (p.Ala528=)
c.531C>A (p.Ala177=)
c.1377C>A (p.Ala459=)
c.897C>A (p.Ala299=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47986422_47986449delCA604852542COL2A1c.1213-4_1236del
c.1420-4_1443del
n.344-4_367del
c.1564-4_1587del
c.1561-4_1584del
c.508-4_531del
c.1354-4_1377del
c.874-4_897del
 dbSNP gnomAD v2 gnomAD v4
12g.47986421G>ACA384552850COL2A1c.1235C>T (p.Ala412Val)
c.1442C>T (p.Ala481Val)
n.366C>T
c.1586C>T (p.Ala529Val)
c.1583C>T (p.Ala528Val)
c.530C>T (p.Ala177Val)
c.1376C>T (p.Ala459Val)
c.896C>T (p.Ala299Val)
 dbSNP
12g.47986421G>CCA384552848COL2A1c.1235C>G (p.Ala412Gly)
c.1442C>G (p.Ala481Gly)
n.366C>G
c.1586C>G (p.Ala529Gly)
c.1583C>G (p.Ala528Gly)
c.530C>G (p.Ala177Gly)
c.1376C>G (p.Ala459Gly)
c.896C>G (p.Ala299Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.47986421G=CA2034457133COL2A1c.1235C= (p.Ala412=)
c.1442C= (p.Ala481=)
n.366C=
c.1586C= (p.Ala529=)
c.1583C= (p.Ala528=)
c.530C= (p.Ala177=)
c.1376C= (p.Ala459=)
c.896C= (p.Ala299=)
12g.47986421G>TCA384552853COL2A1c.1235C>A (p.Ala412Asp)
c.1442C>A (p.Ala481Asp)
n.366C>A
c.1586C>A (p.Ala529Asp)
c.1583C>A (p.Ala528Asp)
c.530C>A (p.Ala177Asp)
c.1376C>A (p.Ala459Asp)
c.896C>A (p.Ala299Asp)
12g.47986422C>ACA384552856COL2A1c.1234G>T (p.Ala412Ser)
c.1441G>T (p.Ala481Ser)
n.365G>T
c.1585G>T (p.Ala529Ser)
c.1582G>T (p.Ala528Ser)
c.529G>T (p.Ala177Ser)
c.1375G>T (p.Ala459Ser)
c.895G>T (p.Ala299Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47986422C=CA2034457138COL2A1c.1234G= (p.Ala412=)
c.1441G= (p.Ala481=)
n.365G=
c.1585G= (p.Ala529=)
c.1582G= (p.Ala528=)
c.529G= (p.Ala177=)
c.1375G= (p.Ala459=)
c.895G= (p.Ala299=)
12g.47986422C>GCA384552859COL2A1c.1234G>C (p.Ala412Pro)
c.1441G>C (p.Ala481Pro)
n.365G>C
c.1585G>C (p.Ala529Pro)
c.1582G>C (p.Ala528Pro)
c.529G>C (p.Ala177Pro)
c.1375G>C (p.Ala459Pro)
c.895G>C (p.Ala299Pro)
12g.47986422C>TCA384552861COL2A1c.1234G>A (p.Ala412Thr)
c.1441G>A (p.Ala481Thr)
n.365G>A
c.1585G>A (p.Ala529Thr)
c.1582G>A (p.Ala528Thr)
c.529G>A (p.Ala177Thr)
c.1375G>A (p.Ala459Thr)
c.895G>A (p.Ala299Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.47986423T>ACA479471989COL2A1c.1233A>T (p.Gly411=)
c.1440A>T (p.Gly480=)
n.364A>T
c.1584A>T (p.Gly528=)
c.1581A>T (p.Gly527=)
c.528A>T (p.Gly176=)
c.1374A>T (p.Gly458=)
c.894A>T (p.Gly298=)
12g.47986423T>CCA479471991COL2A1c.1233A>G (p.Gly411=)
c.1440A>G (p.Gly480=)
n.364A>G
c.1584A>G (p.Gly528=)
c.1581A>G (p.Gly527=)
c.528A>G (p.Gly176=)
c.1374A>G (p.Gly458=)
c.894A>G (p.Gly298=)
 gnomAD v4
12g.47986423T>GCA479471992COL2A1c.1233A>C (p.Gly411=)
c.1440A>C (p.Gly480=)
n.364A>C
c.1584A>C (p.Gly528=)
c.1581A>C (p.Gly527=)
c.528A>C (p.Gly176=)
c.1374A>C (p.Gly458=)
c.894A>C (p.Gly298=)
12g.47986424C>ACA384552864COL2A1c.1232G>T (p.Gly411Val)
c.1439G>T (p.Gly480Val)
n.363G>T
c.1583G>T (p.Gly528Val)
c.1580G>T (p.Gly527Val)
c.527G>T (p.Gly176Val)
c.1373G>T (p.Gly458Val)
c.893G>T (p.Gly298Val)
 gnomAD v4
12g.47986424C>GCA384552868COL2A1c.1232G>C (p.Gly411Ala)
c.1439G>C (p.Gly480Ala)
n.363G>C
c.1583G>C (p.Gly528Ala)
c.1580G>C (p.Gly527Ala)
c.527G>C (p.Gly176Ala)
c.1373G>C (p.Gly458Ala)
c.893G>C (p.Gly298Ala)
12g.47986424C>TCA384552871COL2A1c.1232G>A (p.Gly411Glu)
c.1439G>A (p.Gly480Glu)
n.363G>A
c.1583G>A (p.Gly528Glu)
c.1580G>A (p.Gly527Glu)
c.527G>A (p.Gly176Glu)
c.1373G>A (p.Gly458Glu)
c.893G>A (p.Gly298Glu)
 ClinVar dbSNP
12g.47986426delCA2580085510COL2A1c.1232del (p.Gly411GlufsTer?)
c.1439del (p.Gly480GlufsTer?)
n.363del
c.1583del (p.Gly528GlufsTer?)
c.1580del (p.Gly527GlufsTer?)
c.527del (p.Gly176GlufsTer?)
c.1373del (p.Gly458GlufsTer?)
c.893del (p.Gly298GlufsTer?)
 ClinVar
12g.47986425C>ACA384552873COL2A1c.1231G>T (p.Gly411Ter)
c.1438G>T (p.Gly480Ter)
n.362G>T
c.1582G>T (p.Gly528Ter)
c.1579G>T (p.Gly527Ter)
c.526G>T (p.Gly176Ter)
c.1372G>T (p.Gly458Ter)
c.892G>T (p.Gly298Ter)
 ClinVar gnomAD v4
12g.47986425C>GCA384552875COL2A1c.1231G>C (p.Gly411Arg)
c.1438G>C (p.Gly480Arg)
n.362G>C
c.1582G>C (p.Gly528Arg)
c.1579G>C (p.Gly527Arg)
c.526G>C (p.Gly176Arg)
c.1372G>C (p.Gly458Arg)
c.892G>C (p.Gly298Arg)
 dbSNP
12g.47986425C>TCA384552878COL2A1c.1231G>A (p.Gly411Arg)
c.1438G>A (p.Gly480Arg)
n.362G>A
c.1582G>A (p.Gly528Arg)
c.1579G>A (p.Gly527Arg)
c.526G>A (p.Gly176Arg)
c.1372G>A (p.Gly458Arg)
c.892G>A (p.Gly298Arg)
 gnomAD v4
12g.47986426C>ACA384552881COL2A1c.1230G>T (p.Gln410His)
c.1437G>T (p.Gln479His)
n.361G>T
c.1581G>T (p.Gln527His)
c.1578G>T (p.Gln526His)
c.525G>T (p.Gln175His)
c.1371G>T (p.Gln457His)
c.891G>T (p.Gln297His)
 gnomAD v4
12g.47986426C>GCA384552884COL2A1c.1230G>C (p.Gln410His)
c.1437G>C (p.Gln479His)
n.361G>C
c.1581G>C (p.Gln527His)
c.1578G>C (p.Gln526His)
c.525G>C (p.Gln175His)
c.1371G>C (p.Gln457His)
c.891G>C (p.Gln297His)
12g.47986426C>TCA479472001COL2A1c.1230G>A (p.Gln410=)
c.1437G>A (p.Gln479=)
n.361G>A
c.1581G>A (p.Gln527=)
c.1578G>A (p.Gln526=)
c.525G>A (p.Gln175=)
c.1371G>A (p.Gln457=)
c.891G>A (p.Gln297=)
 gnomAD v4
12g.47986427T>ACA384552894COL2A1c.1229A>T (p.Gln410Leu)
c.1436A>T (p.Gln479Leu)
n.360A>T
c.1580A>T (p.Gln527Leu)
c.1577A>T (p.Gln526Leu)
c.524A>T (p.Gln175Leu)
c.1370A>T (p.Gln457Leu)
c.890A>T (p.Gln297Leu)
12g.47986427T>CCA384552890COL2A1c.1229A>G (p.Gln410Arg)
c.1436A>G (p.Gln479Arg)
n.360A>G
c.1580A>G (p.Gln527Arg)
c.1577A>G (p.Gln526Arg)
c.524A>G (p.Gln175Arg)
c.1370A>G (p.Gln457Arg)
c.890A>G (p.Gln297Arg)
 dbSNP gnomAD v4
12g.47986427T>GCA384552888COL2A1c.1229A>C (p.Gln410Pro)
c.1436A>C (p.Gln479Pro)
n.360A>C
c.1580A>C (p.Gln527Pro)
c.1577A>C (p.Gln526Pro)
c.524A>C (p.Gln175Pro)
c.1370A>C (p.Gln457Pro)
c.890A>C (p.Gln297Pro)
 ClinVar gnomAD v4
12g.47986427T=CA2034457142COL2A1c.1229A= (p.Gln410=)
c.1436A= (p.Gln479=)
n.360A=
c.1580A= (p.Gln527=)
c.1577A= (p.Gln526=)
c.524A= (p.Gln175=)
c.1370A= (p.Gln457=)
c.890A= (p.Gln297=)
12g.47986428G>ACA384552896COL2A1c.1228C>T (p.Gln410Ter)
c.1435C>T (p.Gln479Ter)
n.359C>T
c.1579C>T (p.Gln527Ter)
c.1576C>T (p.Gln526Ter)
c.523C>T (p.Gln175Ter)
c.1369C>T (p.Gln457Ter)
c.889C>T (p.Gln297Ter)
 ClinVar dbSNP gnomAD v4
12g.47986428G>CCA384552899COL2A1c.1228C>G (p.Gln410Glu)
c.1435C>G (p.Gln479Glu)
n.359C>G
c.1579C>G (p.Gln527Glu)
c.1576C>G (p.Gln526Glu)
c.523C>G (p.Gln175Glu)
c.1369C>G (p.Gln457Glu)
c.889C>G (p.Gln297Glu)
12g.47986428G>TCA384552901COL2A1c.1228C>A (p.Gln410Lys)
c.1435C>A (p.Gln479Lys)
n.359C>A
c.1579C>A (p.Gln527Lys)
c.1576C>A (p.Gln526Lys)
c.523C>A (p.Gln175Lys)
c.1369C>A (p.Gln457Lys)
c.889C>A (p.Gln297Lys)
 gnomAD v4
12g.47986432dupCA2618502085COL2A1c.1228dup (p.Gln410ProfsTer9)
c.1435dup (p.Gln479ProfsTer9)
n.359dup
c.1579dup (p.Gln527ProfsTer9)
c.1576dup (p.Gln526ProfsTer9)
c.523dup (p.Gln175ProfsTer9)
c.1369dup (p.Gln457ProfsTer9)
c.889dup (p.Gln297ProfsTer9)
 gnomAD v4
12g.47986432delCA479472006COL2A1c.1228del (p.Gln410ArgfsTer?)
c.1435del (p.Gln479ArgfsTer?)
n.359del
c.1579del (p.Gln527ArgfsTer?)
c.1576del (p.Gln526ArgfsTer?)
c.523del (p.Gln175ArgfsTer?)
c.1369del (p.Gln457ArgfsTer?)
c.889del (p.Gln297ArgfsTer?)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.47986429G>ACA479472009COL2A1c.1227C>T (p.Pro409=)
c.1434C>T (p.Pro478=)
n.358C>T
c.1578C>T (p.Pro526=)
c.1575C>T (p.Pro525=)
c.522C>T (p.Pro174=)
c.1368C>T (p.Pro456=)
c.888C>T (p.Pro296=)
 gnomAD v4
12g.47986429G>CCA479472010COL2A1c.1227C>G (p.Pro409=)
c.1434C>G (p.Pro478=)
n.358C>G
c.1578C>G (p.Pro526=)
c.1575C>G (p.Pro525=)
c.522C>G (p.Pro174=)
c.1368C>G (p.Pro456=)
c.888C>G (p.Pro296=)
12g.47986429G>TCA479472012COL2A1c.1227C>A (p.Pro409=)
c.1434C>A (p.Pro478=)
n.358C>A
c.1578C>A (p.Pro526=)
c.1575C>A (p.Pro525=)
c.522C>A (p.Pro174=)
c.1368C>A (p.Pro456=)
c.888C>A (p.Pro296=)
 gnomAD v4
12g.47986430G>ACA248795COL2A1c.1226C>T (p.Pro409Leu)
c.1433C>T (p.Pro478Leu)
n.357C>T
c.1577C>T (p.Pro526Leu)
c.1574C>T (p.Pro525Leu)
c.521C>T (p.Pro174Leu)
c.1367C>T (p.Pro456Leu)
c.887C>T (p.Pro296Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47986430G>CCA384552907COL2A1c.1226C>G (p.Pro409Arg)
c.1433C>G (p.Pro478Arg)
n.357C>G
c.1577C>G (p.Pro526Arg)
c.1574C>G (p.Pro525Arg)
c.521C>G (p.Pro174Arg)
c.1367C>G (p.Pro456Arg)
c.887C>G (p.Pro296Arg)
12g.47986430G=CA2034457151COL2A1c.1226C= (p.Pro409=)
c.1433C= (p.Pro478=)
n.357C=
c.1577C= (p.Pro526=)
c.1574C= (p.Pro525=)
c.521C= (p.Pro174=)
c.1367C= (p.Pro456=)
c.887C= (p.Pro296=)
12g.47986430G>TCA384552909COL2A1c.1226C>A (p.Pro409His)
c.1433C>A (p.Pro478His)
n.357C>A
c.1577C>A (p.Pro526His)
c.1574C>A (p.Pro525His)
c.521C>A (p.Pro174His)
c.1367C>A (p.Pro456His)
c.887C>A (p.Pro296His)
 gnomAD v4
12g.47986431G>ACA384552912COL2A1c.1225C>T (p.Pro409Ser)
c.1432C>T (p.Pro478Ser)
n.356C>T
c.1576C>T (p.Pro526Ser)
c.1573C>T (p.Pro525Ser)
c.520C>T (p.Pro174Ser)
c.1366C>T (p.Pro456Ser)
c.886C>T (p.Pro296Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47986431G>CCA384552914COL2A1c.1225C>G (p.Pro409Ala)
c.1432C>G (p.Pro478Ala)
n.356C>G
c.1576C>G (p.Pro526Ala)
c.1573C>G (p.Pro525Ala)
c.520C>G (p.Pro174Ala)
c.1366C>G (p.Pro456Ala)
c.886C>G (p.Pro296Ala)
12g.47986431G=CA2034457157COL2A1c.1225C= (p.Pro409=)
c.1432C= (p.Pro478=)
n.356C=
c.1576C= (p.Pro526=)
c.1573C= (p.Pro525=)
c.520C= (p.Pro174=)
c.1366C= (p.Pro456=)
c.886C= (p.Pro296=)
12g.47986431G>TCA384552917COL2A1c.1225C>A (p.Pro409Thr)
c.1432C>A (p.Pro478Thr)
n.356C>A
c.1576C>A (p.Pro526Thr)
c.1573C>A (p.Pro525Thr)
c.520C>A (p.Pro174Thr)
c.1366C>A (p.Pro456Thr)
c.886C>A (p.Pro296Thr)
 gnomAD v4
12g.47986432G>ACA479472020COL2A1c.1224C>T (p.Gly408=)
c.1431C>T (p.Gly477=)
n.355C>T
c.1575C>T (p.Gly525=)
c.1572C>T (p.Gly524=)
c.519C>T (p.Gly173=)
c.1365C>T (p.Gly455=)
c.885C>T (p.Gly295=)
 gnomAD v4 COSMIC COSMIC
12g.47986432G>CCA479472021COL2A1c.1224C>G (p.Gly408=)
c.1431C>G (p.Gly477=)
n.355C>G
c.1575C>G (p.Gly525=)
c.1572C>G (p.Gly524=)
c.519C>G (p.Gly173=)
c.1365C>G (p.Gly455=)
c.885C>G (p.Gly295=)
12g.47986432G>TCA479472023COL2A1c.1224C>A (p.Gly408=)
c.1431C>A (p.Gly477=)
n.355C>A
c.1575C>A (p.Gly525=)
c.1572C>A (p.Gly524=)
c.519C>A (p.Gly173=)
c.1365C>A (p.Gly455=)
c.885C>A (p.Gly295=)
 gnomAD v4
12g.47986432_47986450delCA912996179COL2A1c.1213-7_1224del
c.1420-7_1431del
n.344-7_355del
c.1564-7_1575del
c.1561-7_1572del
c.508-7_519del
c.1354-7_1365del
c.874-7_885del
12g.47986432_47986450delinsGCCAGCAGGGCCCTGAGGACA2034457161COL2A1c.1213-7_1224delinsTCCTCAGGGCCCTGCTGGC
c.1420-7_1431delinsTCCTCAGGGCCCTGCTGGC
n.344-7_355delinsTCCTCAGGGCCCTGCTGGC
c.1564-7_1575delinsTCCTCAGGGCCCTGCTGGC
c.1561-7_1572delinsTCCTCAGGGCCCTGCTGGC
c.508-7_519delinsTCCTCAGGGCCCTGCTGGC
c.1354-7_1365delinsTCCTCAGGGCCCTGCTGGC
c.874-7_885delinsTCCTCAGGGCCCTGCTGGC
12g.47986433C>ACA384552921COL2A1c.1223G>T (p.Gly408Val)
c.1430G>T (p.Gly477Val)
n.354G>T
c.1574G>T (p.Gly525Val)
c.1571G>T (p.Gly524Val)
c.518G>T (p.Gly173Val)
c.1364G>T (p.Gly455Val)
c.884G>T (p.Gly295Val)
 gnomAD v4
12g.47986433C>GCA384552923COL2A1c.1223G>C (p.Gly408Ala)
c.1430G>C (p.Gly477Ala)
n.354G>C
c.1574G>C (p.Gly525Ala)
c.1571G>C (p.Gly524Ala)
c.518G>C (p.Gly173Ala)
c.1364G>C (p.Gly455Ala)
c.884G>C (p.Gly295Ala)
12g.47986433C>TCA384552925COL2A1c.1223G>A (p.Gly408Asp)
c.1430G>A (p.Gly477Asp)
n.354G>A
c.1574G>A (p.Gly525Asp)
c.1571G>A (p.Gly524Asp)
c.518G>A (p.Gly173Asp)
c.1364G>A (p.Gly455Asp)
c.884G>A (p.Gly295Asp)
 gnomAD v4
12g.47986434delCA2575138168COL2A1c.1223del (p.Gly408AlafsTer?)
c.1430del (p.Gly477AlafsTer?)
n.354del
c.1574del (p.Gly525AlafsTer?)
c.1571del (p.Gly524AlafsTer?)
c.518del (p.Gly173AlafsTer?)
c.1364del (p.Gly455AlafsTer?)
c.884del (p.Gly295AlafsTer?)
12g.47986434_47986444delCA2695216329COL2A1c.1213_1223del
c.1420_1430del
n.344_354del
c.1564_1574del
c.1561_1571del
c.508_518del
c.1354_1364del
c.874_884del
12g.47986439_47986456delCA658823369COL2A1c.1213-7_1223del
c.1420-7_1430del
n.344-7_354del
c.1564-7_1574del
c.1561-7_1571del
c.508-7_518del
c.1354-7_1364del
c.874-7_884del
 ClinVar dbSNP
12g.47986434C>ACA384552930COL2A1c.1222G>T (p.Gly408Cys)
c.1429G>T (p.Gly477Cys)
n.353G>T
c.1573G>T (p.Gly525Cys)
c.1570G>T (p.Gly524Cys)
c.517G>T (p.Gly173Cys)
c.1363G>T (p.Gly455Cys)
c.883G>T (p.Gly295Cys)
12g.47986434C>GCA384552933COL2A1c.1222G>C (p.Gly408Arg)
c.1429G>C (p.Gly477Arg)
n.353G>C
c.1573G>C (p.Gly525Arg)
c.1570G>C (p.Gly524Arg)
c.517G>C (p.Gly173Arg)
c.1363G>C (p.Gly455Arg)
c.883G>C (p.Gly295Arg)
 ClinVar
12g.47986434C>TCA384552929COL2A1c.1222G>A (p.Gly408Ser)
c.1429G>A (p.Gly477Ser)
n.353G>A
c.1573G>A (p.Gly525Ser)
c.1570G>A (p.Gly524Ser)
c.517G>A (p.Gly173Ser)
c.1363G>A (p.Gly455Ser)
c.883G>A (p.Gly295Ser)
12g.47986434_47986435insGCCACA2695216330COL2A1c.1221_1222insTGGC (p.Gly408TrpfsTer12)
c.1428_1429insTGGC (p.Gly477TrpfsTer12)
n.352_353insTGGC
c.1572_1573insTGGC (p.Gly525TrpfsTer12)
c.1569_1570insTGGC (p.Gly524TrpfsTer12)
c.516_517insTGGC (p.Gly173TrpfsTer12)
c.1362_1363insTGGC (p.Gly455TrpfsTer12)
c.882_883insTGGC (p.Gly295TrpfsTer12)
12g.47986435A=CA2034457171COL2A1c.1221T= (p.Ala407=)
c.1428T= (p.Ala476=)
n.352T=
c.1572T= (p.Ala524=)
c.1569T= (p.Ala523=)
c.516T= (p.Ala172=)
c.1362T= (p.Ala454=)
c.882T= (p.Ala294=)
12g.47986435A>CCA236527666COL2A1c.1221T>G (p.Ala407=)
c.1428T>G (p.Ala476=)
n.352T>G
c.1572T>G (p.Ala524=)
c.1569T>G (p.Ala523=)
c.516T>G (p.Ala172=)
c.1362T>G (p.Ala454=)
c.882T>G (p.Ala294=)
 dbSNP gnomAD v2
12g.47986435A>GCA479472032COL2A1c.1221T>C (p.Ala407=)
c.1428T>C (p.Ala476=)
n.352T>C
c.1572T>C (p.Ala524=)
c.1569T>C (p.Ala523=)
c.516T>C (p.Ala172=)
c.1362T>C (p.Ala454=)
c.882T>C (p.Ala294=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47986435A>TCA479472030COL2A1c.1221T>A (p.Ala407=)
c.1428T>A (p.Ala476=)
n.352T>A
c.1572T>A (p.Ala524=)
c.1569T>A (p.Ala523=)
c.516T>A (p.Ala172=)
c.1362T>A (p.Ala454=)
c.882T>A (p.Ala294=)
12g.47986436G>ACA384552936COL2A1c.1220C>T (p.Ala407Val)
c.1427C>T (p.Ala476Val)
n.351C>T
c.1571C>T (p.Ala524Val)
c.1568C>T (p.Ala523Val)
c.515C>T (p.Ala172Val)
c.1361C>T (p.Ala454Val)
c.881C>T (p.Ala294Val)
 ClinVar gnomAD v4
12g.47986436G>CCA384552938COL2A1c.1220C>G (p.Ala407Gly)
c.1427C>G (p.Ala476Gly)
n.351C>G
c.1571C>G (p.Ala524Gly)
c.1568C>G (p.Ala523Gly)
c.515C>G (p.Ala172Gly)
c.1361C>G (p.Ala454Gly)
c.881C>G (p.Ala294Gly)
12g.47986436G>TCA384552941COL2A1c.1220C>A (p.Ala407Asp)
c.1427C>A (p.Ala476Asp)
n.351C>A
c.1571C>A (p.Ala524Asp)
c.1568C>A (p.Ala523Asp)
c.515C>A (p.Ala172Asp)
c.1361C>A (p.Ala454Asp)
c.881C>A (p.Ala294Asp)
 gnomAD v4
12g.47986437C>ACA384552944COL2A1c.1219G>T (p.Ala407Ser)
c.1426G>T (p.Ala476Ser)
n.350G>T
c.1570G>T (p.Ala524Ser)
c.1567G>T (p.Ala523Ser)
c.514G>T (p.Ala172Ser)
c.1360G>T (p.Ala454Ser)
c.880G>T (p.Ala294Ser)
 gnomAD v4
12g.47986437C>GCA384552946COL2A1c.1219G>C (p.Ala407Pro)
c.1426G>C (p.Ala476Pro)
n.350G>C
c.1570G>C (p.Ala524Pro)
c.1567G>C (p.Ala523Pro)
c.514G>C (p.Ala172Pro)
c.1360G>C (p.Ala454Pro)
c.880G>C (p.Ala294Pro)
12g.47986437C>TCA384552949COL2A1c.1219G>A (p.Ala407Thr)
c.1426G>A (p.Ala476Thr)
n.350G>A
c.1570G>A (p.Ala524Thr)
c.1567G>A (p.Ala523Thr)
c.514G>A (p.Ala172Thr)
c.1360G>A (p.Ala454Thr)
c.880G>A (p.Ala294Thr)
 gnomAD v4
12g.47986438_47986443delCA2573053669COL2A1c.1214_1219del (p.Gly405_Pro406del)
c.1421_1426del (p.Gly474_Pro475del)
n.345_350del
c.1565_1570del (p.Gly522_Pro523del)
c.1562_1567del (p.Gly521_Pro522del)
c.509_514del (p.Gly170_Pro171del)
c.1355_1360del (p.Gly452_Pro453del)
c.875_880del (p.Gly292_Pro293del)
 ClinVar dbSNP
12g.47986438delCA2618502150COL2A1c.1218del (p.Ala407LeufsTer?)
c.1425del (p.Ala476LeufsTer?)
n.349del
c.1569del (p.Ala524LeufsTer?)
c.1566del (p.Ala523LeufsTer?)
c.513del (p.Ala172LeufsTer?)
c.1359del (p.Ala454LeufsTer?)
c.879del (p.Ala294LeufsTer?)
 gnomAD v4
12g.47986438A>CCA479472041COL2A1c.1218T>G (p.Pro406=)
c.1425T>G (p.Pro475=)
n.349T>G
c.1569T>G (p.Pro523=)
c.1566T>G (p.Pro522=)
c.513T>G (p.Pro171=)
c.1359T>G (p.Pro453=)
c.879T>G (p.Pro293=)
12g.47986438A>GCA479472042COL2A1c.1218T>C (p.Pro406=)
c.1425T>C (p.Pro475=)
n.349T>C
c.1569T>C (p.Pro523=)
c.1566T>C (p.Pro522=)
c.513T>C (p.Pro171=)
c.1359T>C (p.Pro453=)
c.879T>C (p.Pro293=)
 gnomAD v4
12g.47986438A>TCA479472044COL2A1c.1218T>A (p.Pro406=)
c.1425T>A (p.Pro475=)
n.349T>A
c.1569T>A (p.Pro523=)
c.1566T>A (p.Pro522=)
c.513T>A (p.Pro171=)
c.1359T>A (p.Pro453=)
c.879T>A (p.Pro293=)
 gnomAD v4
12g.47986439G>ACA384552954COL2A1c.1217C>T (p.Pro406Leu)
c.1424C>T (p.Pro475Leu)
n.348C>T
c.1568C>T (p.Pro523Leu)
c.1565C>T (p.Pro522Leu)
c.512C>T (p.Pro171Leu)
c.1358C>T (p.Pro453Leu)
c.878C>T (p.Pro293Leu)
 dbSNP gnomAD v2
12g.47986439G>CCA384552956COL2A1c.1217C>G (p.Pro406Arg)
c.1424C>G (p.Pro475Arg)
n.348C>G
c.1568C>G (p.Pro523Arg)
c.1565C>G (p.Pro522Arg)
c.512C>G (p.Pro171Arg)
c.1358C>G (p.Pro453Arg)
c.878C>G (p.Pro293Arg)
12g.47986439G=CA2034457175COL2A1c.1217C= (p.Pro406=)
c.1424C= (p.Pro475=)
n.348C=
c.1568C= (p.Pro523=)
c.1565C= (p.Pro522=)
c.512C= (p.Pro171=)
c.1358C= (p.Pro453=)
c.878C= (p.Pro293=)
12g.47986439G>TCA384552958COL2A1c.1217C>A (p.Pro406His)
c.1424C>A (p.Pro475His)
n.348C>A
c.1568C>A (p.Pro523His)
c.1565C>A (p.Pro522His)
c.512C>A (p.Pro171His)
c.1358C>A (p.Pro453His)
c.878C>A (p.Pro293His)
 gnomAD v4
12g.47986441delCA2739271958COL2A1c.1217del (p.Pro406LeufsTer?)
c.1424del (p.Pro475LeufsTer?)
n.348del
c.1568del (p.Pro523LeufsTer?)
c.1565del (p.Pro522LeufsTer?)
c.512del (p.Pro171LeufsTer?)
c.1358del (p.Pro453LeufsTer?)
c.878del (p.Pro293LeufsTer?)
 ClinVar
12g.47986440G>ACA384552963COL2A1c.1216C>T (p.Pro406Ser)
c.1423C>T (p.Pro475Ser)
n.347C>T
c.1567C>T (p.Pro523Ser)
c.1564C>T (p.Pro522Ser)
c.511C>T (p.Pro171Ser)
c.1357C>T (p.Pro453Ser)
c.877C>T (p.Pro293Ser)
 ClinVar dbSNP gnomAD v4
12g.47986440G>CCA384552966COL2A1c.1216C>G (p.Pro406Ala)
c.1423C>G (p.Pro475Ala)
n.347C>G
c.1567C>G (p.Pro523Ala)
c.1564C>G (p.Pro522Ala)
c.511C>G (p.Pro171Ala)
c.1357C>G (p.Pro453Ala)
c.877C>G (p.Pro293Ala)
12g.47986440G=CA2034457182COL2A1c.1216C= (p.Pro406=)
c.1423C= (p.Pro475=)
n.347C=
c.1567C= (p.Pro523=)
c.1564C= (p.Pro522=)
c.511C= (p.Pro171=)
c.1357C= (p.Pro453=)
c.877C= (p.Pro293=)
12g.47986440G>TCA6535475COL2A1c.1216C>A (p.Pro406Thr)
c.1423C>A (p.Pro475Thr)
n.347C>A
c.1567C>A (p.Pro523Thr)
c.1564C>A (p.Pro522Thr)
c.511C>A (p.Pro171Thr)
c.1357C>A (p.Pro453Thr)
c.877C>A (p.Pro293Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47986441G>ACA236527672COL2A1c.1215C>T (p.Gly405=)
c.1422C>T (p.Gly474=)
n.346C>T
c.1566C>T (p.Gly522=)
c.1563C>T (p.Gly521=)
c.510C>T (p.Gly170=)
c.1356C>T (p.Gly452=)
c.876C>T (p.Gly292=)
 dbSNP gnomAD v4
12g.47986441G>CCA479472053COL2A1c.1215C>G (p.Gly405=)
c.1422C>G (p.Gly474=)
n.346C>G
c.1566C>G (p.Gly522=)
c.1563C>G (p.Gly521=)
c.510C>G (p.Gly170=)
c.1356C>G (p.Gly452=)
c.876C>G (p.Gly292=)
12g.47986441G=CA2034457188COL2A1c.1215C= (p.Gly405=)
c.1422C= (p.Gly474=)
n.346C=
c.1566C= (p.Gly522=)
c.1563C= (p.Gly521=)
c.510C= (p.Gly170=)
c.1356C= (p.Gly452=)
c.876C= (p.Gly292=)
12g.47986441G>TCA479472055COL2A1c.1215C>A (p.Gly405=)
c.1422C>A (p.Gly474=)
n.346C>A
c.1566C>A (p.Gly522=)
c.1563C>A (p.Gly521=)
c.510C>A (p.Gly170=)
c.1356C>A (p.Gly452=)
c.876C>A (p.Gly292=)
 gnomAD v4
12g.47986442C>ACA384552972COL2A1c.1214G>T (p.Gly405Val)
c.1421G>T (p.Gly474Val)
n.345G>T
c.1565G>T (p.Gly522Val)
c.1562G>T (p.Gly521Val)
c.509G>T (p.Gly170Val)
c.1355G>T (p.Gly452Val)
c.875G>T (p.Gly292Val)
 gnomAD v4
12g.47986442C>GCA384552974COL2A1c.1214G>C (p.Gly405Ala)
c.1421G>C (p.Gly474Ala)
n.345G>C
c.1565G>C (p.Gly522Ala)
c.1562G>C (p.Gly521Ala)
c.509G>C (p.Gly170Ala)
c.1355G>C (p.Gly452Ala)
c.875G>C (p.Gly292Ala)
12g.47986442C>TCA384552968COL2A1c.1214G>A (p.Gly405Asp)
c.1421G>A (p.Gly474Asp)
n.345G>A
c.1565G>A (p.Gly522Asp)
c.1562G>A (p.Gly521Asp)
c.509G>A (p.Gly170Asp)
c.1355G>A (p.Gly452Asp)
c.875G>A (p.Gly292Asp)
 gnomAD v4 COSMIC COSMIC
12g.47986443C>ACA384552976COL2A1c.1213G>T (p.Gly405Cys)
c.1420G>T (p.Gly474Cys)
n.344G>T
c.1564G>T (p.Gly522Cys)
c.1561G>T (p.Gly521Cys)
c.508G>T (p.Gly170Cys)
c.1354G>T (p.Gly452Cys)
c.874G>T (p.Gly292Cys)
 gnomAD v4
12g.47986443C>GCA384552979COL2A1c.1213G>C (p.Gly405Arg)
c.1420G>C (p.Gly474Arg)
n.344G>C
c.1564G>C (p.Gly522Arg)
c.1561G>C (p.Gly521Arg)
c.508G>C (p.Gly170Arg)
c.1354G>C (p.Gly452Arg)
c.874G>C (p.Gly292Arg)
12g.47986443C>TCA384552980COL2A1c.1213G>A (p.Gly405Ser)
c.1420G>A (p.Gly474Ser)
n.344G>A
c.1564G>A (p.Gly522Ser)
c.1561G>A (p.Gly521Ser)
c.508G>A (p.Gly170Ser)
c.1354G>A (p.Gly452Ser)
c.874G>A (p.Gly292Ser)
 ClinVar dbSNP gnomAD v4
12g.47986444C>ACA384552981COL2A1c.1213-1G>T (n.1213-1G>T)
c.1420-1G>T (n.1420-1G>T)
n.344-1G>T
c.1564-1G>T (n.1564-1G>T)
c.1561-1G>T (n.1561-1G>T)
c.508-1G>T (n.508-1G>T)
c.1354-1G>T (n.1354-1G>T)
c.874-1G>T (n.874-1G>T)
 gnomAD v4
12g.47986444C>GCA384552982COL2A1c.1213-1G>C (n.1213-1G>C)
c.1420-1G>C (n.1420-1G>C)
n.344-1G>C
c.1564-1G>C (n.1564-1G>C)
c.1561-1G>C (n.1561-1G>C)
c.508-1G>C (n.508-1G>C)
c.1354-1G>C (n.1354-1G>C)
c.874-1G>C (n.874-1G>C)
12g.47986444C>TCA384552983COL2A1c.1213-1G>A (n.1213-1G>A)
c.1420-1G>A (n.1420-1G>A)
n.344-1G>A
c.1564-1G>A (n.1564-1G>A)
c.1561-1G>A (n.1561-1G>A)
c.508-1G>A (n.508-1G>A)
c.1354-1G>A (n.1354-1G>A)
c.874-1G>A (n.874-1G>A)
 ClinVar
12g.47986445T>ACA384552985COL2A1c.1213-2A>T (n.1213-2A>T)
c.1420-2A>T (n.1420-2A>T)
n.344-2A>T
c.1564-2A>T (n.1564-2A>T)
c.1561-2A>T (n.1561-2A>T)
c.508-2A>T (n.508-2A>T)
c.1354-2A>T (n.1354-2A>T)
c.874-2A>T (n.874-2A>T)
12g.47986445T>CCA384552989COL2A1c.1213-2A>G (n.1213-2A>G)
c.1420-2A>G (n.1420-2A>G)
n.344-2A>G
c.1564-2A>G (n.1564-2A>G)
c.1561-2A>G (n.1561-2A>G)
c.508-2A>G (n.508-2A>G)
c.1354-2A>G (n.1354-2A>G)
c.874-2A>G (n.874-2A>G)
 ClinVar dbSNP
12g.47986445T>GCA201921COL2A1c.1213-2A>C (n.1213-2A>C)
c.1420-2A>C (n.1420-2A>C)
n.344-2A>C
c.1564-2A>C (n.1564-2A>C)
c.1561-2A>C (n.1561-2A>C)
c.508-2A>C (n.508-2A>C)
c.1354-2A>C (n.1354-2A>C)
c.874-2A>C (n.874-2A>C)
 ClinVar dbSNP
12g.47986445T=CA2034457194COL2A1c.1213-2A= (n.1213-2A=)
c.1420-2A= (n.1420-2A=)
n.344-2A=
c.1564-2A= (n.1564-2A=)
c.1561-2A= (n.1561-2A=)
c.508-2A= (n.508-2A=)
c.1354-2A= (n.1354-2A=)
c.874-2A= (n.874-2A=)
12g.47986446G>TCA2618502213COL2A1c.1213-3C>A (n.1213-3C>A)
c.1420-3C>A (n.1420-3C>A)
n.344-3C>A
c.1564-3C>A (n.1564-3C>A)
c.1561-3C>A (n.1561-3C>A)
c.508-3C>A (n.508-3C>A)
c.1354-3C>A (n.1354-3C>A)
c.874-3C>A (n.874-3C>A)
 gnomAD v4
12g.47986447A>GCA2618502222COL2A1c.1213-4T>C (n.1213-4T>C)
c.1420-4T>C (n.1420-4T>C)
n.344-4T>C
c.1564-4T>C (n.1564-4T>C)
c.1561-4T>C (n.1561-4T>C)
c.508-4T>C (n.508-4T>C)
c.1354-4T>C (n.1354-4T>C)
c.874-4T>C (n.874-4T>C)
 gnomAD v4
12g.47986447A>TCA2618502223COL2A1c.1213-4T>A (n.1213-4T>A)
c.1420-4T>A (n.1420-4T>A)
n.344-4T>A
c.1564-4T>A (n.1564-4T>A)
c.1561-4T>A (n.1561-4T>A)
c.508-4T>A (n.508-4T>A)
c.1354-4T>A (n.1354-4T>A)
c.874-4T>A (n.874-4T>A)
 gnomAD v4
12g.47986448G>ACA2618502226COL2A1c.1213-5C>T (n.1213-5C>T)
c.1420-5C>T (n.1420-5C>T)
n.344-5C>T
c.1564-5C>T (n.1564-5C>T)
c.1561-5C>T (n.1561-5C>T)
c.508-5C>T (n.508-5C>T)
c.1354-5C>T (n.1354-5C>T)
c.874-5C>T (n.874-5C>T)
 ClinVar gnomAD v4
12g.47986448G>TCA2618502230COL2A1c.1213-5C>A (n.1213-5C>A)
c.1420-5C>A (n.1420-5C>A)
n.344-5C>A
c.1564-5C>A (n.1564-5C>A)
c.1561-5C>A (n.1561-5C>A)
c.508-5C>A (n.508-5C>A)
c.1354-5C>A (n.1354-5C>A)
c.874-5C>A (n.874-5C>A)
 gnomAD v4
12g.47986449G>ACA2618502265COL2A1c.1213-6C>T (n.1213-6C>T)
c.1420-6C>T (n.1420-6C>T)
n.344-6C>T
c.1564-6C>T (n.1564-6C>T)
c.1561-6C>T (n.1561-6C>T)
c.508-6C>T (n.508-6C>T)
c.1354-6C>T (n.1354-6C>T)
c.874-6C>T (n.874-6C>T)
 gnomAD v4
12g.47986449G>TCA2618502267COL2A1c.1213-6C>A (n.1213-6C>A)
c.1420-6C>A (n.1420-6C>A)
n.344-6C>A
c.1564-6C>A (n.1564-6C>A)
c.1561-6C>A (n.1561-6C>A)
c.508-6C>A (n.508-6C>A)
c.1354-6C>A (n.1354-6C>A)
c.874-6C>A (n.874-6C>A)
 gnomAD v4
12g.47986450A=CA2034457200COL2A1c.1213-7T= (n.1213-7T=)
c.1420-7T= (n.1420-7T=)
n.344-7T=
c.1564-7T= (n.1564-7T=)
c.1561-7T= (n.1561-7T=)
c.508-7T= (n.508-7T=)
c.1354-7T= (n.1354-7T=)
c.874-7T= (n.874-7T=)
12g.47986450A>CCA2034457202COL2A1c.1213-7T>G (n.1213-7T>G)
c.1420-7T>G (n.1420-7T>G)
n.344-7T>G
c.1564-7T>G (n.1564-7T>G)
c.1561-7T>G (n.1561-7T>G)
c.508-7T>G (n.508-7T>G)
c.1354-7T>G (n.1354-7T>G)
c.874-7T>G (n.874-7T>G)
 dbSNP
12g.47986450A>GCA2034457204COL2A1c.1213-7T>C (n.1213-7T>C)
c.1420-7T>C (n.1420-7T>C)
n.344-7T>C
c.1564-7T>C (n.1564-7T>C)
c.1561-7T>C (n.1561-7T>C)
c.508-7T>C (n.508-7T>C)
c.1354-7T>C (n.1354-7T>C)
c.874-7T>C (n.874-7T>C)
 dbSNP gnomAD v4
12g.47986450A>TCA2618502269COL2A1c.1213-7T>A (n.1213-7T>A)
c.1420-7T>A (n.1420-7T>A)
n.344-7T>A
c.1564-7T>A (n.1564-7T>A)
c.1561-7T>A (n.1561-7T>A)
c.508-7T>A (n.508-7T>A)
c.1354-7T>A (n.1354-7T>A)
c.874-7T>A (n.874-7T>A)
 gnomAD v4
12g.47986451C=CA2034457208COL2A1c.1213-8G= (n.1213-8G=)
c.1420-8G= (n.1420-8G=)
n.344-8G=
c.1564-8G= (n.1564-8G=)
c.1561-8G= (n.1561-8G=)
c.508-8G= (n.508-8G=)
c.1354-8G= (n.1354-8G=)
c.874-8G= (n.874-8G=)
12g.47986451C>TCA604852545COL2A1c.1213-8G>A (n.1213-8G>A)
c.1420-8G>A (n.1420-8G>A)
n.344-8G>A
c.1564-8G>A (n.1564-8G>A)
c.1561-8G>A (n.1561-8G>A)
c.508-8G>A (n.508-8G>A)
c.1354-8G>A (n.1354-8G>A)
c.874-8G>A (n.874-8G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47986452delCA2618502270COL2A1c.1213-8del (n.1213-8del)
c.1420-8del (n.1420-8del)
n.344-8del
c.1564-8del (n.1564-8del)
c.1561-8del (n.1561-8del)
c.508-8del (n.508-8del)
c.1354-8del (n.1354-8del)
c.874-8del (n.874-8del)
 gnomAD v4
12g.47986452C>ACA2618502273COL2A1c.1213-9G>T (n.1213-9G>T)
c.1420-9G>T (n.1420-9G>T)
n.344-9G>T
c.1564-9G>T (n.1564-9G>T)
c.1561-9G>T (n.1561-9G>T)
c.508-9G>T (n.508-9G>T)
c.1354-9G>T (n.1354-9G>T)
c.874-9G>T (n.874-9G>T)
 gnomAD v4
12g.47986452C>TCA2618502274COL2A1c.1213-9G>A (n.1213-9G>A)
c.1420-9G>A (n.1420-9G>A)
n.344-9G>A
c.1564-9G>A (n.1564-9G>A)
c.1561-9G>A (n.1561-9G>A)
c.508-9G>A (n.508-9G>A)
c.1354-9G>A (n.1354-9G>A)
c.874-9G>A (n.874-9G>A)
 gnomAD v4

Number of alleles fetched