| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47987085C>A | CA384553697 | COL2A1 | c.1151G>T (p.Gly384Val) c.1358G>T (p.Gly453Val) n.282G>T c.1502G>T (p.Gly501Val) c.1499G>T (p.Gly500Val) c.446G>T (p.Gly149Val) c.1292G>T (p.Gly431Val) c.812G>T (p.Gly271Val) | ClinVar |
| 12 | g.47987085C= | CA2034458364 | COL2A1 | c.1151G= (p.Gly384=) c.1358G= (p.Gly453=) n.282G= c.1502G= (p.Gly501=) c.1499G= (p.Gly500=) c.446G= (p.Gly149=) c.1292G= (p.Gly431=) c.812G= (p.Gly271=) | |
| 12 | g.47987085C>G | CA251239 | COL2A1 | c.1151G>C (p.Gly384Ala) c.1358G>C (p.Gly453Ala) n.282G>C c.1502G>C (p.Gly501Ala) c.1499G>C (p.Gly500Ala) c.446G>C (p.Gly149Ala) c.1292G>C (p.Gly431Ala) c.812G>C (p.Gly271Ala) | ClinVar dbSNP |
| 12 | g.47987085C>T | CA384553700 | COL2A1 | c.1151G>A (p.Gly384Asp) c.1358G>A (p.Gly453Asp) n.282G>A c.1502G>A (p.Gly501Asp) c.1499G>A (p.Gly500Asp) c.446G>A (p.Gly149Asp) c.1292G>A (p.Gly431Asp) c.812G>A (p.Gly271Asp) | ClinVar dbSNP |
| 12 | g.47987086C>A | CA384553706 | COL2A1 | c.1150G>T (p.Gly384Cys) c.1357G>T (p.Gly453Cys) n.281G>T c.1501G>T (p.Gly501Cys) c.1498G>T (p.Gly500Cys) c.445G>T (p.Gly149Cys) c.1291G>T (p.Gly431Cys) c.811G>T (p.Gly271Cys) | |
| 12 | g.47987086C>G | CA384553704 | COL2A1 | c.1150G>C (p.Gly384Arg) c.1357G>C (p.Gly453Arg) n.281G>C c.1501G>C (p.Gly501Arg) c.1498G>C (p.Gly500Arg) c.445G>C (p.Gly149Arg) c.1291G>C (p.Gly431Arg) c.811G>C (p.Gly271Arg) | |
| 12 | g.47987086C>T | CA384553702 | COL2A1 | c.1150G>A (p.Gly384Ser) c.1357G>A (p.Gly453Ser) n.281G>A c.1501G>A (p.Gly501Ser) c.1498G>A (p.Gly500Ser) c.445G>A (p.Gly149Ser) c.1291G>A (p.Gly431Ser) c.811G>A (p.Gly271Ser) | ClinVar dbSNP |
| 12 | g.47987087T>A | CA384553708 | COL2A1 | c.1149A>T (p.Lys383Asn) c.1356A>T (p.Lys452Asn) n.280A>T c.1500A>T (p.Lys500Asn) c.1497A>T (p.Lys499Asn) c.444A>T (p.Lys148Asn) c.1290A>T (p.Lys430Asn) c.810A>T (p.Lys270Asn) | |
| 12 | g.47987087T>C | CA479473141 | COL2A1 | c.1149A>G (p.Lys383=) c.1356A>G (p.Lys452=) n.280A>G c.1500A>G (p.Lys500=) c.1497A>G (p.Lys499=) c.444A>G (p.Lys148=) c.1290A>G (p.Lys430=) c.810A>G (p.Lys270=) | |
| 12 | g.47987087T>G | CA384553710 | COL2A1 | c.1149A>C (p.Lys383Asn) c.1356A>C (p.Lys452Asn) n.280A>C c.1500A>C (p.Lys500Asn) c.1497A>C (p.Lys499Asn) c.444A>C (p.Lys148Asn) c.1290A>C (p.Lys430Asn) c.810A>C (p.Lys270Asn) | |
| 12 | g.47987088T>A | CA384553712 | COL2A1 | c.1148A>T (p.Lys383Ile) c.1355A>T (p.Lys452Ile) n.279A>T c.1499A>T (p.Lys500Ile) c.1496A>T (p.Lys499Ile) c.443A>T (p.Lys148Ile) c.1289A>T (p.Lys430Ile) c.809A>T (p.Lys270Ile) | |
| 12 | g.47987088T>C | CA384553714 | COL2A1 | c.1148A>G (p.Lys383Arg) c.1355A>G (p.Lys452Arg) n.279A>G c.1499A>G (p.Lys500Arg) c.1496A>G (p.Lys499Arg) c.443A>G (p.Lys148Arg) c.1289A>G (p.Lys430Arg) c.809A>G (p.Lys270Arg) | |
| 12 | g.47987088T>G | CA6535513 | COL2A1 | c.1148A>C (p.Lys383Thr) c.1355A>C (p.Lys452Thr) n.279A>C c.1499A>C (p.Lys500Thr) c.1496A>C (p.Lys499Thr) c.443A>C (p.Lys148Thr) c.1289A>C (p.Lys430Thr) c.809A>C (p.Lys270Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987088T= | CA2034458366 | COL2A1 | c.1148A= (p.Lys383=) c.1355A= (p.Lys452=) n.279A= c.1499A= (p.Lys500=) c.1496A= (p.Lys499=) c.443A= (p.Lys148=) c.1289A= (p.Lys430=) c.809A= (p.Lys270=) | |
| 12 | g.47987089T>A | CA384553716 | COL2A1 | c.1147A>T (p.Lys383Ter) c.1354A>T (p.Lys452Ter) n.278A>T c.1498A>T (p.Lys500Ter) c.1495A>T (p.Lys499Ter) c.442A>T (p.Lys148Ter) c.1288A>T (p.Lys430Ter) c.808A>T (p.Lys270Ter) | |
| 12 | g.47987089T>C | CA384553718 | COL2A1 | c.1147A>G (p.Lys383Glu) c.1354A>G (p.Lys452Glu) n.278A>G c.1498A>G (p.Lys500Glu) c.1495A>G (p.Lys499Glu) c.442A>G (p.Lys148Glu) c.1288A>G (p.Lys430Glu) c.808A>G (p.Lys270Glu) | |
| 12 | g.47987089T>G | CA384553719 | COL2A1 | c.1147A>C (p.Lys383Gln) c.1354A>C (p.Lys452Gln) n.278A>C c.1498A>C (p.Lys500Gln) c.1495A>C (p.Lys499Gln) c.442A>C (p.Lys148Gln) c.1288A>C (p.Lys430Gln) c.808A>C (p.Lys270Gln) | |
| 12 | g.47987090C>A | CA236527929 | COL2A1 | c.1146G>T (p.Pro382=) c.1353G>T (p.Pro451=) n.277G>T c.1497G>T (p.Pro499=) c.1494G>T (p.Pro498=) c.441G>T (p.Pro147=) c.1287G>T (p.Pro429=) c.807G>T (p.Pro269=) | dbSNP |
| 12 | g.47987090C= | CA2034458372 | COL2A1 | c.1146G= (p.Pro382=) c.1353G= (p.Pro451=) n.277G= c.1497G= (p.Pro499=) c.1494G= (p.Pro498=) c.441G= (p.Pro147=) c.1287G= (p.Pro429=) c.807G= (p.Pro269=) | |
| 12 | g.47987090C>G | CA479473171 | COL2A1 | c.1146G>C (p.Pro382=) c.1353G>C (p.Pro451=) n.277G>C c.1497G>C (p.Pro499=) c.1494G>C (p.Pro498=) c.441G>C (p.Pro147=) c.1287G>C (p.Pro429=) c.807G>C (p.Pro269=) | |
| 12 | g.47987090C>T | CA6535514 | COL2A1 | c.1146G>A (p.Pro382=) c.1353G>A (p.Pro451=) n.277G>A c.1497G>A (p.Pro499=) c.1494G>A (p.Pro498=) c.441G>A (p.Pro147=) c.1287G>A (p.Pro429=) c.807G>A (p.Pro269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987091G>A | CA6535516 | COL2A1 | c.1145C>T (p.Pro382Leu) c.1352C>T (p.Pro451Leu) n.276C>T c.1496C>T (p.Pro499Leu) c.1493C>T (p.Pro498Leu) c.440C>T (p.Pro147Leu) c.1286C>T (p.Pro429Leu) c.806C>T (p.Pro269Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987091G>C | CA6535515 | COL2A1 | c.1145C>G (p.Pro382Arg) c.1352C>G (p.Pro451Arg) n.276C>G c.1496C>G (p.Pro499Arg) c.1493C>G (p.Pro498Arg) c.440C>G (p.Pro147Arg) c.1286C>G (p.Pro429Arg) c.806C>G (p.Pro269Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987091G= | CA2034458381 | COL2A1 | c.1145C= (p.Pro382=) c.1352C= (p.Pro451=) n.276C= c.1496C= (p.Pro499=) c.1493C= (p.Pro498=) c.440C= (p.Pro147=) c.1286C= (p.Pro429=) c.806C= (p.Pro269=) | |
| 12 | g.47987091G>T | CA384553724 | COL2A1 | c.1145C>A (p.Pro382Gln) c.1352C>A (p.Pro451Gln) n.276C>A c.1496C>A (p.Pro499Gln) c.1493C>A (p.Pro498Gln) c.440C>A (p.Pro147Gln) c.1286C>A (p.Pro429Gln) c.806C>A (p.Pro269Gln) | |
| 12 | g.47987092G>A | CA384553727 | COL2A1 | c.1144C>T (p.Pro382Ser) c.1351C>T (p.Pro451Ser) n.275C>T c.1495C>T (p.Pro499Ser) c.1492C>T (p.Pro498Ser) c.439C>T (p.Pro147Ser) c.1285C>T (p.Pro429Ser) c.805C>T (p.Pro269Ser) | gnomAD v4 |
| 12 | g.47987092G>C | CA384553729 | COL2A1 | c.1144C>G (p.Pro382Ala) c.1351C>G (p.Pro451Ala) n.275C>G c.1495C>G (p.Pro499Ala) c.1492C>G (p.Pro498Ala) c.439C>G (p.Pro147Ala) c.1285C>G (p.Pro429Ala) c.805C>G (p.Pro269Ala) | |
| 12 | g.47987092G>T | CA384553732 | COL2A1 | c.1144C>A (p.Pro382Thr) c.1351C>A (p.Pro451Thr) n.275C>A c.1495C>A (p.Pro499Thr) c.1492C>A (p.Pro498Thr) c.439C>A (p.Pro147Thr) c.1285C>A (p.Pro429Thr) c.805C>A (p.Pro269Thr) | gnomAD v4 |
| 12 | g.47987093G>A | CA479473206 | COL2A1 | c.1143C>T (p.Gly381=) c.1350C>T (p.Gly450=) n.274C>T c.1494C>T (p.Gly498=) c.1491C>T (p.Gly497=) c.438C>T (p.Gly146=) c.1284C>T (p.Gly428=) c.804C>T (p.Gly268=) | |
| 12 | g.47987093G>C | CA479473209 | COL2A1 | c.1143C>G (p.Gly381=) c.1350C>G (p.Gly450=) n.274C>G c.1494C>G (p.Gly498=) c.1491C>G (p.Gly497=) c.438C>G (p.Gly146=) c.1284C>G (p.Gly428=) c.804C>G (p.Gly268=) | |
| 12 | g.47987093G>T | CA479473211 | COL2A1 | c.1143C>A (p.Gly381=) c.1350C>A (p.Gly450=) n.274C>A c.1494C>A (p.Gly498=) c.1491C>A (p.Gly497=) c.438C>A (p.Gly146=) c.1284C>A (p.Gly428=) c.804C>A (p.Gly268=) | |
| 12 | g.47987094C>A | CA384553736 | COL2A1 | c.1142G>T (p.Gly381Val) c.1349G>T (p.Gly450Val) n.273G>T c.1493G>T (p.Gly498Val) c.1490G>T (p.Gly497Val) c.437G>T (p.Gly146Val) c.1283G>T (p.Gly428Val) c.803G>T (p.Gly268Val) | |
| 12 | g.47987094C>G | CA384553740 | COL2A1 | c.1142G>C (p.Gly381Ala) c.1349G>C (p.Gly450Ala) n.273G>C c.1493G>C (p.Gly498Ala) c.1490G>C (p.Gly497Ala) c.437G>C (p.Gly146Ala) c.1283G>C (p.Gly428Ala) c.803G>C (p.Gly268Ala) | |
| 12 | g.47987094C>T | CA384553738 | COL2A1 | c.1142G>A (p.Gly381Asp) c.1349G>A (p.Gly450Asp) n.273G>A c.1493G>A (p.Gly498Asp) c.1490G>A (p.Gly497Asp) c.437G>A (p.Gly146Asp) c.1283G>A (p.Gly428Asp) c.803G>A (p.Gly268Asp) | |
| 12 | g.47987095C>A | CA384553743 | COL2A1 | c.1141G>T (p.Gly381Cys) c.1348G>T (p.Gly450Cys) n.272G>T c.1492G>T (p.Gly498Cys) c.1489G>T (p.Gly497Cys) c.436G>T (p.Gly146Cys) c.1282G>T (p.Gly428Cys) c.802G>T (p.Gly268Cys) | ClinVar |
| 12 | g.47987095C>G | CA384553744 | COL2A1 | c.1141G>C (p.Gly381Arg) c.1348G>C (p.Gly450Arg) n.272G>C c.1492G>C (p.Gly498Arg) c.1489G>C (p.Gly497Arg) c.436G>C (p.Gly146Arg) c.1282G>C (p.Gly428Arg) c.802G>C (p.Gly268Arg) | ClinVar dbSNP |
| 12 | g.47987095C>T | CA384553747 | COL2A1 | c.1141G>A (p.Gly381Ser) c.1348G>A (p.Gly450Ser) n.272G>A c.1492G>A (p.Gly498Ser) c.1489G>A (p.Gly497Ser) c.436G>A (p.Gly146Ser) c.1282G>A (p.Gly428Ser) c.802G>A (p.Gly268Ser) | ClinVar dbSNP |
| 12 | g.47987096C>A | CA479473230 | COL2A1 | c.1140G>T (p.Leu380=) c.1347G>T (p.Leu449=) n.271G>T c.1491G>T (p.Leu497=) c.1488G>T (p.Leu496=) c.435G>T (p.Leu145=) c.1281G>T (p.Leu427=) c.801G>T (p.Leu267=) | |
| 12 | g.47987096C= | CA2034458385 | COL2A1 | c.1140G= (p.Leu380=) c.1347G= (p.Leu449=) n.271G= c.1491G= (p.Leu497=) c.1488G= (p.Leu496=) c.435G= (p.Leu145=) c.1281G= (p.Leu427=) c.801G= (p.Leu267=) | |
| 12 | g.47987096C>G | CA479473233 | COL2A1 | c.1140G>C (p.Leu380=) c.1347G>C (p.Leu449=) n.271G>C c.1491G>C (p.Leu497=) c.1488G>C (p.Leu496=) c.435G>C (p.Leu145=) c.1281G>C (p.Leu427=) c.801G>C (p.Leu267=) | |
| 12 | g.47987096C>T | CA479473236 | COL2A1 | c.1140G>A (p.Leu380=) c.1347G>A (p.Leu449=) n.271G>A c.1491G>A (p.Leu497=) c.1488G>A (p.Leu496=) c.435G>A (p.Leu145=) c.1281G>A (p.Leu427=) c.801G>A (p.Leu267=) | dbSNP gnomAD v4 |
| 12 | g.47987097A>C | CA384553749 | COL2A1 | c.1139T>G (p.Leu380Arg) c.1346T>G (p.Leu449Arg) n.270T>G c.1490T>G (p.Leu497Arg) c.1487T>G (p.Leu496Arg) c.434T>G (p.Leu145Arg) c.1280T>G (p.Leu427Arg) c.800T>G (p.Leu267Arg) | |
| 12 | g.47987097A>G | CA384553751 | COL2A1 | c.1139T>C (p.Leu380Pro) c.1346T>C (p.Leu449Pro) n.270T>C c.1490T>C (p.Leu497Pro) c.1487T>C (p.Leu496Pro) c.434T>C (p.Leu145Pro) c.1280T>C (p.Leu427Pro) c.800T>C (p.Leu267Pro) | |
| 12 | g.47987097A>T | CA384553753 | COL2A1 | c.1139T>A (p.Leu380Gln) c.1346T>A (p.Leu449Gln) n.270T>A c.1490T>A (p.Leu497Gln) c.1487T>A (p.Leu496Gln) c.434T>A (p.Leu145Gln) c.1280T>A (p.Leu427Gln) c.800T>A (p.Leu267Gln) | |
| 12 | g.47987098G>A | CA479473247 | COL2A1 | c.1138C>T (p.Leu380=) c.1345C>T (p.Leu449=) n.269C>T c.1489C>T (p.Leu497=) c.1486C>T (p.Leu496=) c.433C>T (p.Leu145=) c.1279C>T (p.Leu427=) c.799C>T (p.Leu267=) | |
| 12 | g.47987098G>C | CA384553756 | COL2A1 | c.1138C>G (p.Leu380Val) c.1345C>G (p.Leu449Val) n.269C>G c.1489C>G (p.Leu497Val) c.1486C>G (p.Leu496Val) c.433C>G (p.Leu145Val) c.1279C>G (p.Leu427Val) c.799C>G (p.Leu267Val) | |
| 12 | g.47987098G>T | CA384553758 | COL2A1 | c.1138C>A (p.Leu380Met) c.1345C>A (p.Leu449Met) n.269C>A c.1489C>A (p.Leu497Met) c.1486C>A (p.Leu496Met) c.433C>A (p.Leu145Met) c.1279C>A (p.Leu427Met) c.799C>A (p.Leu267Met) | |
| 12 | g.47987099A>C | CA479473254 | COL2A1 | c.1137T>G (p.Pro379=) c.1344T>G (p.Pro448=) n.268T>G c.1488T>G (p.Pro496=) c.1485T>G (p.Pro495=) c.432T>G (p.Pro144=) c.1278T>G (p.Pro426=) c.798T>G (p.Pro266=) | |
| 12 | g.47987099A>G | CA479473257 | COL2A1 | c.1137T>C (p.Pro379=) c.1344T>C (p.Pro448=) n.268T>C c.1488T>C (p.Pro496=) c.1485T>C (p.Pro495=) c.432T>C (p.Pro144=) c.1278T>C (p.Pro426=) c.798T>C (p.Pro266=) | |
| 12 | g.47987099A>T | CA479473260 | COL2A1 | c.1137T>A (p.Pro379=) c.1344T>A (p.Pro448=) n.268T>A c.1488T>A (p.Pro496=) c.1485T>A (p.Pro495=) c.432T>A (p.Pro144=) c.1278T>A (p.Pro426=) c.798T>A (p.Pro266=) | |
| 12 | g.47987100G>A | CA384553761 | COL2A1 | c.1136C>T (p.Pro379Leu) c.1343C>T (p.Pro448Leu) n.267C>T c.1487C>T (p.Pro496Leu) c.1484C>T (p.Pro495Leu) c.431C>T (p.Pro144Leu) c.1277C>T (p.Pro426Leu) c.797C>T (p.Pro266Leu) | gnomAD v4 |
| 12 | g.47987100G>C | CA384553763 | COL2A1 | c.1136C>G (p.Pro379Arg) c.1343C>G (p.Pro448Arg) n.267C>G c.1487C>G (p.Pro496Arg) c.1484C>G (p.Pro495Arg) c.431C>G (p.Pro144Arg) c.1277C>G (p.Pro426Arg) c.797C>G (p.Pro266Arg) | |
| 12 | g.47987100G>T | CA384553766 | COL2A1 | c.1136C>A (p.Pro379His) c.1343C>A (p.Pro448His) n.267C>A c.1487C>A (p.Pro496His) c.1484C>A (p.Pro495His) c.431C>A (p.Pro144His) c.1277C>A (p.Pro426His) c.797C>A (p.Pro266His) | |
| 12 | g.47987101G>A | CA236527938 | COL2A1 | c.1135C>T (p.Pro379Ser) c.1342C>T (p.Pro448Ser) n.266C>T c.1486C>T (p.Pro496Ser) c.1483C>T (p.Pro495Ser) c.430C>T (p.Pro144Ser) c.1276C>T (p.Pro426Ser) c.796C>T (p.Pro266Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987101G>C | CA384553773 | COL2A1 | c.1135C>G (p.Pro379Ala) c.1342C>G (p.Pro448Ala) n.266C>G c.1486C>G (p.Pro496Ala) c.1483C>G (p.Pro495Ala) c.430C>G (p.Pro144Ala) c.1276C>G (p.Pro426Ala) c.796C>G (p.Pro266Ala) | |
| 12 | g.47987101G= | CA2034458395 | COL2A1 | c.1135C= (p.Pro379=) c.1342C= (p.Pro448=) n.266C= c.1486C= (p.Pro496=) c.1483C= (p.Pro495=) c.430C= (p.Pro144=) c.1276C= (p.Pro426=) c.796C= (p.Pro266=) | |
| 12 | g.47987101G>T | CA384553771 | COL2A1 | c.1135C>A (p.Pro379Thr) c.1342C>A (p.Pro448Thr) n.266C>A c.1486C>A (p.Pro496Thr) c.1483C>A (p.Pro495Thr) c.430C>A (p.Pro144Thr) c.1276C>A (p.Pro426Thr) c.796C>A (p.Pro266Thr) | |
| 12 | g.47987101delinsAA | CA2695216271 | COL2A1 | c.1135delinsTT (p.Pro379PhefsTer10) c.1342delinsTT (p.Pro448PhefsTer10) n.266delinsTT c.1486delinsTT (p.Pro496PhefsTer10) c.1483delinsTT (p.Pro495PhefsTer10) c.430delinsTT (p.Pro144PhefsTer10) c.1276delinsTT (p.Pro426PhefsTer10) c.796delinsTT (p.Pro266PhefsTer10) | |
| 12 | g.47987102A>C | CA479473281 | COL2A1 | c.1134T>G (p.Gly378=) c.1341T>G (p.Gly447=) n.265T>G c.1485T>G (p.Gly495=) c.1482T>G (p.Gly494=) c.429T>G (p.Gly143=) c.1275T>G (p.Gly425=) c.795T>G (p.Gly265=) | |
| 12 | g.47987102A>G | CA479473283 | COL2A1 | c.1134T>C (p.Gly378=) c.1341T>C (p.Gly447=) n.265T>C c.1485T>C (p.Gly495=) c.1482T>C (p.Gly494=) c.429T>C (p.Gly143=) c.1275T>C (p.Gly425=) c.795T>C (p.Gly265=) | |
| 12 | g.47987102A>T | CA479473288 | COL2A1 | c.1134T>A (p.Gly378=) c.1341T>A (p.Gly447=) n.265T>A c.1485T>A (p.Gly495=) c.1482T>A (p.Gly494=) c.429T>A (p.Gly143=) c.1275T>A (p.Gly425=) c.795T>A (p.Gly265=) | |
| 12 | g.47987103C>A | CA384553776 | COL2A1 | c.1133G>T (p.Gly378Val) c.1340G>T (p.Gly447Val) n.264G>T c.1484G>T (p.Gly495Val) c.1481G>T (p.Gly494Val) c.428G>T (p.Gly143Val) c.1274G>T (p.Gly425Val) c.794G>T (p.Gly265Val) | |
| 12 | g.47987103C= | CA2034458402 | COL2A1 | c.1133G= (p.Gly378=) c.1340G= (p.Gly447=) n.264G= c.1484G= (p.Gly495=) c.1481G= (p.Gly494=) c.428G= (p.Gly143=) c.1274G= (p.Gly425=) c.794G= (p.Gly265=) | |
| 12 | g.47987103C>G | CA384553779 | COL2A1 | c.1133G>C (p.Gly378Ala) c.1340G>C (p.Gly447Ala) n.264G>C c.1484G>C (p.Gly495Ala) c.1481G>C (p.Gly494Ala) c.428G>C (p.Gly143Ala) c.1274G>C (p.Gly425Ala) c.794G>C (p.Gly265Ala) | |
| 12 | g.47987103C>T | CA10605662 | COL2A1 | c.1133G>A (p.Gly378Asp) c.1340G>A (p.Gly447Asp) n.264G>A c.1484G>A (p.Gly495Asp) c.1481G>A (p.Gly494Asp) c.428G>A (p.Gly143Asp) c.1274G>A (p.Gly425Asp) c.794G>A (p.Gly265Asp) | ClinVar dbSNP |
| 12 | g.47987104_47987113del | CA2499221676 | COL2A1 | c.1124_1133del (p.Gly375ValfsTer?) c.1331_1340del (p.Gly444ValfsTer?) n.255_264del c.1475_1484del (p.Gly492ValfsTer?) c.1472_1481del (p.Gly491ValfsTer?) c.419_428del (p.Gly140ValfsTer?) c.1265_1274del (p.Gly422ValfsTer?) c.785_794del (p.Gly262ValfsTer?) | ClinVar dbSNP |
| 12 | g.47987104C>A | CA384553785 | COL2A1 | c.1132G>T (p.Gly378Cys) c.1339G>T (p.Gly447Cys) n.263G>T c.1483G>T (p.Gly495Cys) c.1480G>T (p.Gly494Cys) c.427G>T (p.Gly143Cys) c.1273G>T (p.Gly425Cys) c.793G>T (p.Gly265Cys) | |
| 12 | g.47987104C>G | CA384553788 | COL2A1 | c.1132G>C (p.Gly378Arg) c.1339G>C (p.Gly447Arg) n.263G>C c.1483G>C (p.Gly495Arg) c.1480G>C (p.Gly494Arg) c.427G>C (p.Gly143Arg) c.1273G>C (p.Gly425Arg) c.793G>C (p.Gly265Arg) | |
| 12 | g.47987104C>T | CA384553791 | COL2A1 | c.1132G>A (p.Gly378Ser) c.1339G>A (p.Gly447Ser) n.263G>A c.1483G>A (p.Gly495Ser) c.1480G>A (p.Gly494Ser) c.427G>A (p.Gly143Ser) c.1273G>A (p.Gly425Ser) c.793G>A (p.Gly265Ser) | ClinVar |
| 12 | g.47987105A>C | CA479473308 | COL2A1 | c.1131T>G (p.Thr377=) c.1338T>G (p.Thr446=) n.262T>G c.1482T>G (p.Thr494=) c.1479T>G (p.Thr493=) c.426T>G (p.Thr142=) c.1272T>G (p.Thr424=) c.792T>G (p.Thr264=) | |
| 12 | g.47987105A>G | CA479473310 | COL2A1 | c.1131T>C (p.Thr377=) c.1338T>C (p.Thr446=) n.262T>C c.1482T>C (p.Thr494=) c.1479T>C (p.Thr493=) c.426T>C (p.Thr142=) c.1272T>C (p.Thr424=) c.792T>C (p.Thr264=) | |
| 12 | g.47987105A>T | CA479473313 | COL2A1 | c.1131T>A (p.Thr377=) c.1338T>A (p.Thr446=) n.262T>A c.1482T>A (p.Thr494=) c.1479T>A (p.Thr493=) c.426T>A (p.Thr142=) c.1272T>A (p.Thr424=) c.792T>A (p.Thr264=) | |
| 12 | g.47987106G>A | CA6535517 | COL2A1 | c.1130C>T (p.Thr377Ile) c.1337C>T (p.Thr446Ile) n.261C>T c.1481C>T (p.Thr494Ile) c.1478C>T (p.Thr493Ile) c.425C>T (p.Thr142Ile) c.1271C>T (p.Thr424Ile) c.791C>T (p.Thr264Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47987106G>C | CA384553798 | COL2A1 | c.1130C>G (p.Thr377Ser) c.1337C>G (p.Thr446Ser) n.261C>G c.1481C>G (p.Thr494Ser) c.1478C>G (p.Thr493Ser) c.425C>G (p.Thr142Ser) c.1271C>G (p.Thr424Ser) c.791C>G (p.Thr264Ser) | |
| 12 | g.47987106G= | CA2034458410 | COL2A1 | c.1130C= (p.Thr377=) c.1337C= (p.Thr446=) n.261C= c.1481C= (p.Thr494=) c.1478C= (p.Thr493=) c.425C= (p.Thr142=) c.1271C= (p.Thr424=) c.791C= (p.Thr264=) | |
| 12 | g.47987106G>T | CA384553795 | COL2A1 | c.1130C>A (p.Thr377Asn) c.1337C>A (p.Thr446Asn) n.261C>A c.1481C>A (p.Thr494Asn) c.1478C>A (p.Thr493Asn) c.425C>A (p.Thr142Asn) c.1271C>A (p.Thr424Asn) c.791C>A (p.Thr264Asn) | |
| 12 | g.47987107T>A | CA384553802 | COL2A1 | c.1129A>T (p.Thr377Ser) c.1336A>T (p.Thr446Ser) n.260A>T c.1480A>T (p.Thr494Ser) c.1477A>T (p.Thr493Ser) c.424A>T (p.Thr142Ser) c.1270A>T (p.Thr424Ser) c.790A>T (p.Thr264Ser) | ClinVar |
| 12 | g.47987107T>C | CA384553805 | COL2A1 | c.1129A>G (p.Thr377Ala) c.1336A>G (p.Thr446Ala) n.260A>G c.1480A>G (p.Thr494Ala) c.1477A>G (p.Thr493Ala) c.424A>G (p.Thr142Ala) c.1270A>G (p.Thr424Ala) c.790A>G (p.Thr264Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987107T>G | CA384553808 | COL2A1 | c.1129A>C (p.Thr377Pro) c.1336A>C (p.Thr446Pro) n.260A>C c.1480A>C (p.Thr494Pro) c.1477A>C (p.Thr493Pro) c.424A>C (p.Thr142Pro) c.1270A>C (p.Thr424Pro) c.790A>C (p.Thr264Pro) | |
| 12 | g.47987107T= | CA2034458414 | COL2A1 | c.1129A= (p.Thr377=) c.1336A= (p.Thr446=) n.260A= c.1480A= (p.Thr494=) c.1477A= (p.Thr493=) c.424A= (p.Thr142=) c.1270A= (p.Thr424=) c.790A= (p.Thr264=) | |
| 12 | g.47987108T>A | CA479473331 | COL2A1 | c.1128A>T (p.Ala376=) c.1335A>T (p.Ala445=) n.259A>T c.1479A>T (p.Ala493=) c.1476A>T (p.Ala492=) c.423A>T (p.Ala141=) c.1269A>T (p.Ala423=) c.789A>T (p.Ala263=) | |
| 12 | g.47987108T>C | CA479473335 | COL2A1 | c.1128A>G (p.Ala376=) c.1335A>G (p.Ala445=) n.259A>G c.1479A>G (p.Ala493=) c.1476A>G (p.Ala492=) c.423A>G (p.Ala141=) c.1269A>G (p.Ala423=) c.789A>G (p.Ala263=) | dbSNP |
| 12 | g.47987108T>G | CA479473332 | COL2A1 | c.1128A>C (p.Ala376=) c.1335A>C (p.Ala445=) n.259A>C c.1479A>C (p.Ala493=) c.1476A>C (p.Ala492=) c.423A>C (p.Ala141=) c.1269A>C (p.Ala423=) c.789A>C (p.Ala263=) | |
| 12 | g.47987108T= | CA2034458416 | COL2A1 | c.1128A= (p.Ala376=) c.1335A= (p.Ala445=) n.259A= c.1479A= (p.Ala493=) c.1476A= (p.Ala492=) c.423A= (p.Ala141=) c.1269A= (p.Ala423=) c.789A= (p.Ala263=) | |
| 12 | g.47987109G>A | CA384553812 | COL2A1 | c.1127C>T (p.Ala376Val) c.1334C>T (p.Ala445Val) n.258C>T c.1478C>T (p.Ala493Val) c.1475C>T (p.Ala492Val) c.422C>T (p.Ala141Val) c.1268C>T (p.Ala423Val) c.788C>T (p.Ala263Val) | |
| 12 | g.47987109G>C | CA384553815 | COL2A1 | c.1127C>G (p.Ala376Gly) c.1334C>G (p.Ala445Gly) n.258C>G c.1478C>G (p.Ala493Gly) c.1475C>G (p.Ala492Gly) c.422C>G (p.Ala141Gly) c.1268C>G (p.Ala423Gly) c.788C>G (p.Ala263Gly) | ClinVar gnomAD v4 |
| 12 | g.47987109G>T | CA384553818 | COL2A1 | c.1127C>A (p.Ala376Glu) c.1334C>A (p.Ala445Glu) n.258C>A c.1478C>A (p.Ala493Glu) c.1475C>A (p.Ala492Glu) c.422C>A (p.Ala141Glu) c.1268C>A (p.Ala423Glu) c.788C>A (p.Ala263Glu) | |
| 12 | g.47987110C>A | CA384553822 | COL2A1 | c.1126G>T (p.Ala376Ser) c.1333G>T (p.Ala445Ser) n.257G>T c.1477G>T (p.Ala493Ser) c.1474G>T (p.Ala492Ser) c.421G>T (p.Ala141Ser) c.1267G>T (p.Ala423Ser) c.787G>T (p.Ala263Ser) | gnomAD v4 |
| 12 | g.47987110C>G | CA384553828 | COL2A1 | c.1126G>C (p.Ala376Pro) c.1333G>C (p.Ala445Pro) n.257G>C c.1477G>C (p.Ala493Pro) c.1474G>C (p.Ala492Pro) c.421G>C (p.Ala141Pro) c.1267G>C (p.Ala423Pro) c.787G>C (p.Ala263Pro) | |
| 12 | g.47987110C>T | CA384553825 | COL2A1 | c.1126G>A (p.Ala376Thr) c.1333G>A (p.Ala445Thr) n.257G>A c.1477G>A (p.Ala493Thr) c.1474G>A (p.Ala492Thr) c.421G>A (p.Ala141Thr) c.1267G>A (p.Ala423Thr) c.787G>A (p.Ala263Thr) | |
| 12 | g.47987111A= | CA2034458421 | COL2A1 | c.1125T= (p.Gly375=) c.1332T= (p.Gly444=) n.256T= c.1476T= (p.Gly492=) c.1473T= (p.Gly491=) c.420T= (p.Gly140=) c.1266T= (p.Gly422=) c.786T= (p.Gly262=) | |
| 12 | g.47987111A>C | CA479473355 | COL2A1 | c.1125T>G (p.Gly375=) c.1332T>G (p.Gly444=) n.256T>G c.1476T>G (p.Gly492=) c.1473T>G (p.Gly491=) c.420T>G (p.Gly140=) c.1266T>G (p.Gly422=) c.786T>G (p.Gly262=) | |
| 12 | g.47987111A>G | CA6535518 | COL2A1 | c.1125T>C (p.Gly375=) c.1332T>C (p.Gly444=) n.256T>C c.1476T>C (p.Gly492=) c.1473T>C (p.Gly491=) c.420T>C (p.Gly140=) c.1266T>C (p.Gly422=) c.786T>C (p.Gly262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987111A>T | CA236527939 | COL2A1 | c.1125T>A (p.Gly375=) c.1332T>A (p.Gly444=) n.256T>A c.1476T>A (p.Gly492=) c.1473T>A (p.Gly491=) c.420T>A (p.Gly140=) c.1266T>A (p.Gly422=) c.786T>A (p.Gly262=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47987112C>A | CA384553834 | COL2A1 | c.1124G>T (p.Gly375Val) c.1331G>T (p.Gly444Val) n.255G>T c.1475G>T (p.Gly492Val) c.1472G>T (p.Gly491Val) c.419G>T (p.Gly140Val) c.1265G>T (p.Gly422Val) c.785G>T (p.Gly262Val) | ClinVar dbSNP |
| 12 | g.47987112C= | CA2034458429 | COL2A1 | c.1124G= (p.Gly375=) c.1331G= (p.Gly444=) n.255G= c.1475G= (p.Gly492=) c.1472G= (p.Gly491=) c.419G= (p.Gly140=) c.1265G= (p.Gly422=) c.785G= (p.Gly262=) | |
| 12 | g.47987112C>G | CA384553840 | COL2A1 | c.1124G>C (p.Gly375Ala) c.1331G>C (p.Gly444Ala) n.255G>C c.1475G>C (p.Gly492Ala) c.1472G>C (p.Gly491Ala) c.419G>C (p.Gly140Ala) c.1265G>C (p.Gly422Ala) c.785G>C (p.Gly262Ala) | |
| 12 | g.47987112C>T | CA384553842 | COL2A1 | c.1124G>A (p.Gly375Asp) c.1331G>A (p.Gly444Asp) n.255G>A c.1475G>A (p.Gly492Asp) c.1472G>A (p.Gly491Asp) c.419G>A (p.Gly140Asp) c.1265G>A (p.Gly422Asp) c.785G>A (p.Gly262Asp) | ClinVar dbSNP |
| 12 | g.47987113C>A | CA384553845 | COL2A1 | c.1123G>T (p.Gly375Cys) c.1330G>T (p.Gly444Cys) n.254G>T c.1474G>T (p.Gly492Cys) c.1471G>T (p.Gly491Cys) c.418G>T (p.Gly140Cys) c.1264G>T (p.Gly422Cys) c.784G>T (p.Gly262Cys) | |
| 12 | g.47987113C= | CA2034458437 | COL2A1 | c.1123G= (p.Gly375=) c.1330G= (p.Gly444=) n.254G= c.1474G= (p.Gly492=) c.1471G= (p.Gly491=) c.418G= (p.Gly140=) c.1264G= (p.Gly422=) c.784G= (p.Gly262=) | |
| 12 | g.47987113C>G | CA384553848 | COL2A1 | c.1123G>C (p.Gly375Arg) c.1330G>C (p.Gly444Arg) n.254G>C c.1474G>C (p.Gly492Arg) c.1471G>C (p.Gly491Arg) c.418G>C (p.Gly140Arg) c.1264G>C (p.Gly422Arg) c.784G>C (p.Gly262Arg) | |
| 12 | g.47987113C>T | CA16619528 | COL2A1 | c.1123G>A (p.Gly375Ser) c.1330G>A (p.Gly444Ser) n.254G>A c.1474G>A (p.Gly492Ser) c.1471G>A (p.Gly491Ser) c.418G>A (p.Gly140Ser) c.1264G>A (p.Gly422Ser) c.784G>A (p.Gly262Ser) | ClinVar dbSNP |
| 12 | g.47987114T>A | CA384553851 | COL2A1 | c.1122A>T (p.Gln374His) c.1329A>T (p.Gln443His) n.253A>T c.1473A>T (p.Gln491His) c.1470A>T (p.Gln490His) c.417A>T (p.Gln139His) c.1263A>T (p.Gln421His) c.783A>T (p.Gln261His) | |
| 12 | g.47987114T>C | CA479473382 | COL2A1 | c.1122A>G (p.Gln374=) c.1329A>G (p.Gln443=) n.253A>G c.1473A>G (p.Gln491=) c.1470A>G (p.Gln490=) c.417A>G (p.Gln139=) c.1263A>G (p.Gln421=) c.783A>G (p.Gln261=) | |
| 12 | g.47987114T>G | CA384553853 | COL2A1 | c.1122A>C (p.Gln374His) c.1329A>C (p.Gln443His) n.253A>C c.1473A>C (p.Gln491His) c.1470A>C (p.Gln490His) c.417A>C (p.Gln139His) c.1263A>C (p.Gln421His) c.783A>C (p.Gln261His) | |
| 12 | g.47987115T>A | CA384553858 | COL2A1 | c.1121A>T (p.Gln374Leu) c.1328A>T (p.Gln443Leu) n.252A>T c.1472A>T (p.Gln491Leu) c.1469A>T (p.Gln490Leu) c.416A>T (p.Gln139Leu) c.1262A>T (p.Gln421Leu) c.782A>T (p.Gln261Leu) | |
| 12 | g.47987115T>C | CA384553860 | COL2A1 | c.1121A>G (p.Gln374Arg) c.1328A>G (p.Gln443Arg) n.252A>G c.1472A>G (p.Gln491Arg) c.1469A>G (p.Gln490Arg) c.416A>G (p.Gln139Arg) c.1262A>G (p.Gln421Arg) c.782A>G (p.Gln261Arg) | |
| 12 | g.47987115T>G | CA384553862 | COL2A1 | c.1121A>C (p.Gln374Pro) c.1328A>C (p.Gln443Pro) n.252A>C c.1472A>C (p.Gln491Pro) c.1469A>C (p.Gln490Pro) c.416A>C (p.Gln139Pro) c.1262A>C (p.Gln421Pro) c.782A>C (p.Gln261Pro) | |
| 12 | g.47987116G>A | CA384553864 | COL2A1 | c.1120C>T (p.Gln374Ter) c.1327C>T (p.Gln443Ter) n.251C>T c.1471C>T (p.Gln491Ter) c.1468C>T (p.Gln490Ter) c.415C>T (p.Gln139Ter) c.1261C>T (p.Gln421Ter) c.781C>T (p.Gln261Ter) | ClinVar |
| 12 | g.47987116G>C | CA384553868 | COL2A1 | c.1120C>G (p.Gln374Glu) c.1327C>G (p.Gln443Glu) n.251C>G c.1471C>G (p.Gln491Glu) c.1468C>G (p.Gln490Glu) c.415C>G (p.Gln139Glu) c.1261C>G (p.Gln421Glu) c.781C>G (p.Gln261Glu) | gnomAD v4 |
| 12 | g.47987116G>T | CA384553865 | COL2A1 | c.1120C>A (p.Gln374Lys) c.1327C>A (p.Gln443Lys) n.251C>A c.1471C>A (p.Gln491Lys) c.1468C>A (p.Gln490Lys) c.415C>A (p.Gln139Lys) c.1261C>A (p.Gln421Lys) c.781C>A (p.Gln261Lys) | |
| 12 | g.47987117del | CA2695216274 | COL2A1 | c.1119del (p.Gln374LysfsTer?) c.1326del (p.Gln443LysfsTer?) n.250del c.1470del (p.Gln491LysfsTer?) c.1467del (p.Gln490LysfsTer?) c.414del (p.Gln139LysfsTer?) c.1260del (p.Gln421LysfsTer?) c.780del (p.Gln261LysfsTer?) | |
| 12 | g.47987117A>C | CA479473408 | COL2A1 | c.1119T>G (p.Pro373=) c.1326T>G (p.Pro442=) n.250T>G c.1470T>G (p.Pro490=) c.1467T>G (p.Pro489=) c.414T>G (p.Pro138=) c.1260T>G (p.Pro420=) c.780T>G (p.Pro260=) | |
| 12 | g.47987117A>G | CA479473411 | COL2A1 | c.1119T>C (p.Pro373=) c.1326T>C (p.Pro442=) n.250T>C c.1470T>C (p.Pro490=) c.1467T>C (p.Pro489=) c.414T>C (p.Pro138=) c.1260T>C (p.Pro420=) c.780T>C (p.Pro260=) | |
| 12 | g.47987117A>T | CA479473415 | COL2A1 | c.1119T>A (p.Pro373=) c.1326T>A (p.Pro442=) n.250T>A c.1470T>A (p.Pro490=) c.1467T>A (p.Pro489=) c.414T>A (p.Pro138=) c.1260T>A (p.Pro420=) c.780T>A (p.Pro260=) | |
| 12 | g.47987118G>A | CA384553870 | COL2A1 | c.1118C>T (p.Pro373Leu) c.1325C>T (p.Pro442Leu) n.249C>T c.1469C>T (p.Pro490Leu) c.1466C>T (p.Pro489Leu) c.413C>T (p.Pro138Leu) c.1259C>T (p.Pro420Leu) c.779C>T (p.Pro260Leu) | |
| 12 | g.47987118G>C | CA384553872 | COL2A1 | c.1118C>G (p.Pro373Arg) c.1325C>G (p.Pro442Arg) n.249C>G c.1469C>G (p.Pro490Arg) c.1466C>G (p.Pro489Arg) c.413C>G (p.Pro138Arg) c.1259C>G (p.Pro420Arg) c.779C>G (p.Pro260Arg) | |
| 12 | g.47987118G>T | CA384553874 | COL2A1 | c.1118C>A (p.Pro373His) c.1325C>A (p.Pro442His) n.249C>A c.1469C>A (p.Pro490His) c.1466C>A (p.Pro489His) c.413C>A (p.Pro138His) c.1259C>A (p.Pro420His) c.779C>A (p.Pro260His) | |
| 12 | g.47987119G>A | CA384553876 | COL2A1 | c.1117C>T (p.Pro373Ser) c.1324C>T (p.Pro442Ser) n.248C>T c.1468C>T (p.Pro490Ser) c.1465C>T (p.Pro489Ser) c.412C>T (p.Pro138Ser) c.1258C>T (p.Pro420Ser) c.778C>T (p.Pro260Ser) | |
| 12 | g.47987119G>C | CA384553877 | COL2A1 | c.1117C>G (p.Pro373Ala) c.1324C>G (p.Pro442Ala) n.248C>G c.1468C>G (p.Pro490Ala) c.1465C>G (p.Pro489Ala) c.412C>G (p.Pro138Ala) c.1258C>G (p.Pro420Ala) c.778C>G (p.Pro260Ala) | |
| 12 | g.47987119G>T | CA384553878 | COL2A1 | c.1117C>A (p.Pro373Thr) c.1324C>A (p.Pro442Thr) n.248C>A c.1468C>A (p.Pro490Thr) c.1465C>A (p.Pro489Thr) c.412C>A (p.Pro138Thr) c.1258C>A (p.Pro420Thr) c.778C>A (p.Pro260Thr) | |
| 12 | g.47987120G>A | CA6535519 | COL2A1 | c.1116C>T (p.Gly372=) c.1323C>T (p.Gly441=) n.247C>T c.1467C>T (p.Gly489=) c.1464C>T (p.Gly488=) c.411C>T (p.Gly137=) c.1257C>T (p.Gly419=) c.777C>T (p.Gly259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987120G>C | CA479473436 | COL2A1 | c.1116C>G (p.Gly372=) c.1323C>G (p.Gly441=) n.247C>G c.1467C>G (p.Gly489=) c.1464C>G (p.Gly488=) c.411C>G (p.Gly137=) c.1257C>G (p.Gly419=) c.777C>G (p.Gly259=) | |
| 12 | g.47987120G= | CA2034458443 | COL2A1 | c.1116C= (p.Gly372=) c.1323C= (p.Gly441=) n.247C= c.1467C= (p.Gly489=) c.1464C= (p.Gly488=) c.411C= (p.Gly137=) c.1257C= (p.Gly419=) c.777C= (p.Gly259=) | |
| 12 | g.47987120G>T | CA479473433 | COL2A1 | c.1116C>A (p.Gly372=) c.1323C>A (p.Gly441=) n.247C>A c.1467C>A (p.Gly489=) c.1464C>A (p.Gly488=) c.411C>A (p.Gly137=) c.1257C>A (p.Gly419=) c.777C>A (p.Gly259=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987121C>A | CA384553879 | COL2A1 | c.1115G>T (p.Gly372Val) c.1322G>T (p.Gly441Val) n.246G>T c.1466G>T (p.Gly489Val) c.1463G>T (p.Gly488Val) c.410G>T (p.Gly137Val) c.1256G>T (p.Gly419Val) c.776G>T (p.Gly259Val) | |
| 12 | g.47987121C>G | CA384553880 | COL2A1 | c.1115G>C (p.Gly372Ala) c.1322G>C (p.Gly441Ala) n.246G>C c.1466G>C (p.Gly489Ala) c.1463G>C (p.Gly488Ala) c.410G>C (p.Gly137Ala) c.1256G>C (p.Gly419Ala) c.776G>C (p.Gly259Ala) | |
| 12 | g.47987121C>T | CA384553881 | COL2A1 | c.1115G>A (p.Gly372Asp) c.1322G>A (p.Gly441Asp) n.246G>A c.1466G>A (p.Gly489Asp) c.1463G>A (p.Gly488Asp) c.410G>A (p.Gly137Asp) c.1256G>A (p.Gly419Asp) c.776G>A (p.Gly259Asp) | |
| 12 | g.47987122C>A | CA384553882 | COL2A1 | c.1114G>T (p.Gly372Cys) c.1321G>T (p.Gly441Cys) n.245G>T c.1465G>T (p.Gly489Cys) c.1462G>T (p.Gly488Cys) c.409G>T (p.Gly137Cys) c.1255G>T (p.Gly419Cys) c.775G>T (p.Gly259Cys) | |
| 12 | g.47987122C>G | CA384553883 | COL2A1 | c.1114G>C (p.Gly372Arg) c.1321G>C (p.Gly441Arg) n.245G>C c.1465G>C (p.Gly489Arg) c.1462G>C (p.Gly488Arg) c.409G>C (p.Gly137Arg) c.1255G>C (p.Gly419Arg) c.775G>C (p.Gly259Arg) | |
| 12 | g.47987122C>T | CA384553885 | COL2A1 | c.1114G>A (p.Gly372Ser) c.1321G>A (p.Gly441Ser) n.245G>A c.1465G>A (p.Gly489Ser) c.1462G>A (p.Gly488Ser) c.409G>A (p.Gly137Ser) c.1255G>A (p.Gly419Ser) c.775G>A (p.Gly259Ser) | ClinVar |
| 12 | g.47987123A>C | CA479473462 | COL2A1 | c.1113T>G (p.Pro371=) c.1320T>G (p.Pro440=) n.244T>G c.1464T>G (p.Pro488=) c.1461T>G (p.Pro487=) c.408T>G (p.Pro136=) c.1254T>G (p.Pro418=) c.774T>G (p.Pro258=) | |
| 12 | g.47987123A>G | CA479473464 | COL2A1 | c.1113T>C (p.Pro371=) c.1320T>C (p.Pro440=) n.244T>C c.1464T>C (p.Pro488=) c.1461T>C (p.Pro487=) c.408T>C (p.Pro136=) c.1254T>C (p.Pro418=) c.774T>C (p.Pro258=) | |
| 12 | g.47987123A>T | CA479473468 | COL2A1 | c.1113T>A (p.Pro371=) c.1320T>A (p.Pro440=) n.244T>A c.1464T>A (p.Pro488=) c.1461T>A (p.Pro487=) c.408T>A (p.Pro136=) c.1254T>A (p.Pro418=) c.774T>A (p.Pro258=) | |
| 12 | g.47987124G>A | CA384553887 | COL2A1 | c.1112C>T (p.Pro371Leu) c.1319C>T (p.Pro440Leu) n.243C>T c.1463C>T (p.Pro488Leu) c.1460C>T (p.Pro487Leu) c.407C>T (p.Pro136Leu) c.1253C>T (p.Pro418Leu) c.773C>T (p.Pro258Leu) | |
| 12 | g.47987124G>C | CA384553889 | COL2A1 | c.1112C>G (p.Pro371Arg) c.1319C>G (p.Pro440Arg) n.243C>G c.1463C>G (p.Pro488Arg) c.1460C>G (p.Pro487Arg) c.407C>G (p.Pro136Arg) c.1253C>G (p.Pro418Arg) c.773C>G (p.Pro258Arg) | |
| 12 | g.47987124G= | CA2034458448 | COL2A1 | c.1112C= (p.Pro371=) c.1319C= (p.Pro440=) n.243C= c.1463C= (p.Pro488=) c.1460C= (p.Pro487=) c.407C= (p.Pro136=) c.1253C= (p.Pro418=) c.773C= (p.Pro258=) | |
| 12 | g.47987124G>T | CA236527942 | COL2A1 | c.1112C>A (p.Pro371His) c.1319C>A (p.Pro440His) n.243C>A c.1463C>A (p.Pro488His) c.1460C>A (p.Pro487His) c.407C>A (p.Pro136His) c.1253C>A (p.Pro418His) c.773C>A (p.Pro258His) | dbSNP |
| 12 | g.47987125G>A | CA384553891 | COL2A1 | c.1111C>T (p.Pro371Ser) c.1318C>T (p.Pro440Ser) n.242C>T c.1462C>T (p.Pro488Ser) c.1459C>T (p.Pro487Ser) c.406C>T (p.Pro136Ser) c.1252C>T (p.Pro418Ser) c.772C>T (p.Pro258Ser) | |
| 12 | g.47987125G>C | CA384553893 | COL2A1 | c.1111C>G (p.Pro371Ala) c.1318C>G (p.Pro440Ala) n.242C>G c.1462C>G (p.Pro488Ala) c.1459C>G (p.Pro487Ala) c.406C>G (p.Pro136Ala) c.1252C>G (p.Pro418Ala) c.772C>G (p.Pro258Ala) | |
| 12 | g.47987125G>T | CA384553895 | COL2A1 | c.1111C>A (p.Pro371Thr) c.1318C>A (p.Pro440Thr) n.242C>A c.1462C>A (p.Pro488Thr) c.1459C>A (p.Pro487Thr) c.406C>A (p.Pro136Thr) c.1252C>A (p.Pro418Thr) c.772C>A (p.Pro258Thr) | |
| 12 | g.47987126A>C | CA479473491 | COL2A1 | c.1110T>G (p.Pro370=) c.1317T>G (p.Pro439=) n.241T>G c.1461T>G (p.Pro487=) c.1458T>G (p.Pro486=) c.405T>G (p.Pro135=) c.1251T>G (p.Pro417=) c.771T>G (p.Pro257=) | |
| 12 | g.47987126A>G | CA479473496 | COL2A1 | c.1110T>C (p.Pro370=) c.1317T>C (p.Pro439=) n.241T>C c.1461T>C (p.Pro487=) c.1458T>C (p.Pro486=) c.405T>C (p.Pro135=) c.1251T>C (p.Pro417=) c.771T>C (p.Pro257=) | |
| 12 | g.47987126A>T | CA479473493 | COL2A1 | c.1110T>A (p.Pro370=) c.1317T>A (p.Pro439=) n.241T>A c.1461T>A (p.Pro487=) c.1458T>A (p.Pro486=) c.405T>A (p.Pro135=) c.1251T>A (p.Pro417=) c.771T>A (p.Pro257=) | |
| 12 | g.47987127G>A | CA384553897 | COL2A1 | c.1109C>T (p.Pro370Leu) c.1316C>T (p.Pro439Leu) n.240C>T c.1460C>T (p.Pro487Leu) c.1457C>T (p.Pro486Leu) c.404C>T (p.Pro135Leu) c.1250C>T (p.Pro417Leu) c.770C>T (p.Pro257Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47987127G>C | CA384553899 | COL2A1 | c.1109C>G (p.Pro370Arg) c.1316C>G (p.Pro439Arg) n.240C>G c.1460C>G (p.Pro487Arg) c.1457C>G (p.Pro486Arg) c.404C>G (p.Pro135Arg) c.1250C>G (p.Pro417Arg) c.770C>G (p.Pro257Arg) | |
| 12 | g.47987127G= | CA2034458454 | COL2A1 | c.1109C= (p.Pro370=) c.1316C= (p.Pro439=) n.240C= c.1460C= (p.Pro487=) c.1457C= (p.Pro486=) c.404C= (p.Pro135=) c.1250C= (p.Pro417=) c.770C= (p.Pro257=) | |
| 12 | g.47987127G>T | CA384553900 | COL2A1 | c.1109C>A (p.Pro370His) c.1316C>A (p.Pro439His) n.240C>A c.1460C>A (p.Pro487His) c.1457C>A (p.Pro486His) c.404C>A (p.Pro135His) c.1250C>A (p.Pro417His) c.770C>A (p.Pro257His) | |
| 12 | g.47987128G>A | CA6535520 | COL2A1 | c.1108C>T (p.Pro370Ser) c.1315C>T (p.Pro439Ser) n.239C>T c.1459C>T (p.Pro487Ser) c.1456C>T (p.Pro486Ser) c.403C>T (p.Pro135Ser) c.1249C>T (p.Pro417Ser) c.769C>T (p.Pro257Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987128G>C | CA384553904 | COL2A1 | c.1108C>G (p.Pro370Ala) c.1315C>G (p.Pro439Ala) n.239C>G c.1459C>G (p.Pro487Ala) c.1456C>G (p.Pro486Ala) c.403C>G (p.Pro135Ala) c.1249C>G (p.Pro417Ala) c.769C>G (p.Pro257Ala) | |
| 12 | g.47987128G= | CA2034458457 | COL2A1 | c.1108C= (p.Pro370=) c.1315C= (p.Pro439=) n.239C= c.1459C= (p.Pro487=) c.1456C= (p.Pro486=) c.403C= (p.Pro135=) c.1249C= (p.Pro417=) c.769C= (p.Pro257=) | |
| 12 | g.47987128G>T | CA384553905 | COL2A1 | c.1108C>A (p.Pro370Thr) c.1315C>A (p.Pro439Thr) n.239C>A c.1459C>A (p.Pro487Thr) c.1456C>A (p.Pro486Thr) c.403C>A (p.Pro135Thr) c.1249C>A (p.Pro417Thr) c.769C>A (p.Pro257Thr) | |
| 12 | g.47987129G>A | CA6535521 | COL2A1 | c.1107C>T (p.Gly369=) c.1314C>T (p.Gly438=) n.238C>T c.1458C>T (p.Gly486=) c.1455C>T (p.Gly485=) c.402C>T (p.Gly134=) c.1248C>T (p.Gly416=) c.768C>T (p.Gly256=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987129G>C | CA479473519 | COL2A1 | c.1107C>G (p.Gly369=) c.1314C>G (p.Gly438=) n.238C>G c.1458C>G (p.Gly486=) c.1455C>G (p.Gly485=) c.402C>G (p.Gly134=) c.1248C>G (p.Gly416=) c.768C>G (p.Gly256=) | |
| 12 | g.47987129G= | CA2034458466 | COL2A1 | c.1107C= (p.Gly369=) c.1314C= (p.Gly438=) n.238C= c.1458C= (p.Gly486=) c.1455C= (p.Gly485=) c.402C= (p.Gly134=) c.1248C= (p.Gly416=) c.768C= (p.Gly256=) | |
| 12 | g.47987129G>T | CA479473523 | COL2A1 | c.1107C>A (p.Gly369=) c.1314C>A (p.Gly438=) n.238C>A c.1458C>A (p.Gly486=) c.1455C>A (p.Gly485=) c.402C>A (p.Gly134=) c.1248C>A (p.Gly416=) c.768C>A (p.Gly256=) | ClinVar dbSNP |
| 12 | g.47987130C>A | CA384553906 | COL2A1 | c.1106G>T (p.Gly369Val) c.1313G>T (p.Gly438Val) n.237G>T c.1457G>T (p.Gly486Val) c.1454G>T (p.Gly485Val) c.401G>T (p.Gly134Val) c.1247G>T (p.Gly416Val) c.767G>T (p.Gly256Val) | |
| 12 | g.47987130C>G | CA384553908 | COL2A1 | c.1106G>C (p.Gly369Ala) c.1313G>C (p.Gly438Ala) n.237G>C c.1457G>C (p.Gly486Ala) c.1454G>C (p.Gly485Ala) c.401G>C (p.Gly134Ala) c.1247G>C (p.Gly416Ala) c.767G>C (p.Gly256Ala) | |
| 12 | g.47987130C>T | CA384553907 | COL2A1 | c.1106G>A (p.Gly369Asp) c.1313G>A (p.Gly438Asp) n.237G>A c.1457G>A (p.Gly486Asp) c.1454G>A (p.Gly485Asp) c.401G>A (p.Gly134Asp) c.1247G>A (p.Gly416Asp) c.767G>A (p.Gly256Asp) | |
| 12 | g.47987130_47987132delinsTG | CA2695216276 | COL2A1 | c.1104_1106delinsCA (p.Gly369ThrfsTer?) c.1311_1313delinsCA (p.Gly438ThrfsTer?) n.235_237delinsCA c.1455_1457delinsCA (p.Gly486ThrfsTer?) c.1452_1454delinsCA (p.Gly485ThrfsTer?) c.399_401delinsCA (p.Gly134ThrfsTer?) c.1245_1247delinsCA (p.Gly416ThrfsTer?) c.765_767delinsCA (p.Gly256ThrfsTer?) | |
| 12 | g.47987133del | CA2695216275 | COL2A1 | c.1106del (p.Gly369AlafsTer?) c.1313del (p.Gly438AlafsTer?) n.237del c.1457del (p.Gly486AlafsTer?) c.1454del (p.Gly485AlafsTer?) c.401del (p.Gly134AlafsTer?) c.1247del (p.Gly416AlafsTer?) c.767del (p.Gly256AlafsTer?) | |
| 12 | g.47987131C>A | CA384553909 | COL2A1 | c.1105G>T (p.Gly369Cys) c.1312G>T (p.Gly438Cys) n.236G>T c.1456G>T (p.Gly486Cys) c.1453G>T (p.Gly485Cys) c.400G>T (p.Gly134Cys) c.1246G>T (p.Gly416Cys) c.766G>T (p.Gly256Cys) | ClinVar dbSNP |
| 12 | g.47987131C>G | CA384553911 | COL2A1 | c.1105G>C (p.Gly369Arg) c.1312G>C (p.Gly438Arg) n.236G>C c.1456G>C (p.Gly486Arg) c.1453G>C (p.Gly485Arg) c.400G>C (p.Gly134Arg) c.1246G>C (p.Gly416Arg) c.766G>C (p.Gly256Arg) | |
| 12 | g.47987131C>T | CA384553910 | COL2A1 | c.1105G>A (p.Gly369Ser) c.1312G>A (p.Gly438Ser) n.236G>A c.1456G>A (p.Gly486Ser) c.1453G>A (p.Gly485Ser) c.400G>A (p.Gly134Ser) c.1246G>A (p.Gly416Ser) c.766G>A (p.Gly256Ser) | |
| 12 | g.47987132C>A | CA479473544 | COL2A1 | c.1104G>T (p.Arg368=) c.1311G>T (p.Arg437=) n.235G>T c.1455G>T (p.Arg485=) c.1452G>T (p.Arg484=) c.399G>T (p.Arg133=) c.1245G>T (p.Arg415=) c.765G>T (p.Arg255=) | |
| 12 | g.47987132C>G | CA479473547 | COL2A1 | c.1104G>C (p.Arg368=) c.1311G>C (p.Arg437=) n.235G>C c.1455G>C (p.Arg485=) c.1452G>C (p.Arg484=) c.399G>C (p.Arg133=) c.1245G>C (p.Arg415=) c.765G>C (p.Arg255=) | |
| 12 | g.47987132C>T | CA479473550 | COL2A1 | c.1104G>A (p.Arg368=) c.1311G>A (p.Arg437=) n.235G>A c.1455G>A (p.Arg485=) c.1452G>A (p.Arg484=) c.399G>A (p.Arg133=) c.1245G>A (p.Arg415=) c.765G>A (p.Arg255=) | |
| 12 | g.47987133C>A | CA384553912 | COL2A1 | c.1103G>T (p.Arg368Leu) c.1310G>T (p.Arg437Leu) n.234G>T c.1454G>T (p.Arg485Leu) c.1451G>T (p.Arg484Leu) c.398G>T (p.Arg133Leu) c.1244G>T (p.Arg415Leu) c.764G>T (p.Arg255Leu) | |
| 12 | g.47987133C= | CA2034458477 | COL2A1 | c.1103G= (p.Arg368=) c.1310G= (p.Arg437=) n.234G= c.1454G= (p.Arg485=) c.1451G= (p.Arg484=) c.398G= (p.Arg133=) c.1244G= (p.Arg415=) c.764G= (p.Arg255=) | |
| 12 | g.47987133C>G | CA384553914 | COL2A1 | c.1103G>C (p.Arg368Pro) c.1310G>C (p.Arg437Pro) n.234G>C c.1454G>C (p.Arg485Pro) c.1451G>C (p.Arg484Pro) c.398G>C (p.Arg133Pro) c.1244G>C (p.Arg415Pro) c.764G>C (p.Arg255Pro) | |
| 12 | g.47987133C>T | CA236527945 | COL2A1 | c.1103G>A (p.Arg368Gln) c.1310G>A (p.Arg437Gln) n.234G>A c.1454G>A (p.Arg485Gln) c.1451G>A (p.Arg484Gln) c.398G>A (p.Arg133Gln) c.1244G>A (p.Arg415Gln) c.764G>A (p.Arg255Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47987134G>A | CA236527947 | COL2A1 | c.1102C>T (p.Arg368Trp) c.1309C>T (p.Arg437Trp) n.233C>T c.1453C>T (p.Arg485Trp) c.1450C>T (p.Arg484Trp) c.397C>T (p.Arg133Trp) c.1243C>T (p.Arg415Trp) c.763C>T (p.Arg255Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47987134G>C | CA384553921 | COL2A1 | c.1102C>G (p.Arg368Gly) c.1309C>G (p.Arg437Gly) n.233C>G c.1453C>G (p.Arg485Gly) c.1450C>G (p.Arg484Gly) c.397C>G (p.Arg133Gly) c.1243C>G (p.Arg415Gly) c.763C>G (p.Arg255Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47987134G= | CA2034458481 | COL2A1 | c.1102C= (p.Arg368=) c.1309C= (p.Arg437=) n.233C= c.1453C= (p.Arg485=) c.1450C= (p.Arg484=) c.397C= (p.Arg133=) c.1243C= (p.Arg415=) c.763C= (p.Arg255=) | |
| 12 | g.47987134G>T | CA479473568 | COL2A1 | c.1102C>A (p.Arg368=) c.1309C>A (p.Arg437=) n.233C>A c.1453C>A (p.Arg485=) c.1450C>A (p.Arg484=) c.397C>A (p.Arg133=) c.1243C>A (p.Arg415=) c.763C>A (p.Arg255=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47987135T>A | CA479473586 | COL2A1 | c.1101A>T (p.Pro367=) c.1308A>T (p.Pro436=) n.232A>T c.1452A>T (p.Pro484=) c.1449A>T (p.Pro483=) c.396A>T (p.Pro132=) c.1242A>T (p.Pro414=) c.762A>T (p.Pro254=) | dbSNP |
| 12 | g.47987135T>C | CA479473576 | COL2A1 | c.1101A>G (p.Pro367=) c.1308A>G (p.Pro436=) n.232A>G c.1452A>G (p.Pro484=) c.1449A>G (p.Pro483=) c.396A>G (p.Pro132=) c.1242A>G (p.Pro414=) c.762A>G (p.Pro254=) | |
| 12 | g.47987135T>G | CA479473579 | COL2A1 | c.1101A>C (p.Pro367=) c.1308A>C (p.Pro436=) n.232A>C c.1452A>C (p.Pro484=) c.1449A>C (p.Pro483=) c.396A>C (p.Pro132=) c.1242A>C (p.Pro414=) c.762A>C (p.Pro254=) | |
| 12 | g.47987135T= | CA2034458488 | COL2A1 | c.1101A= (p.Pro367=) c.1308A= (p.Pro436=) n.232A= c.1452A= (p.Pro484=) c.1449A= (p.Pro483=) c.396A= (p.Pro132=) c.1242A= (p.Pro414=) c.762A= (p.Pro254=) | |
| 12 | g.47987136G>A | CA384553923 | COL2A1 | c.1100C>T (p.Pro367Leu) c.1307C>T (p.Pro436Leu) n.231C>T c.1451C>T (p.Pro484Leu) c.1448C>T (p.Pro483Leu) c.395C>T (p.Pro132Leu) c.1241C>T (p.Pro414Leu) c.761C>T (p.Pro254Leu) | |
| 12 | g.47987136G>C | CA384553924 | COL2A1 | c.1100C>G (p.Pro367Arg) c.1307C>G (p.Pro436Arg) n.231C>G c.1451C>G (p.Pro484Arg) c.1448C>G (p.Pro483Arg) c.395C>G (p.Pro132Arg) c.1241C>G (p.Pro414Arg) c.761C>G (p.Pro254Arg) | |
| 12 | g.47987136G>T | CA384553926 | COL2A1 | c.1100C>A (p.Pro367Gln) c.1307C>A (p.Pro436Gln) n.231C>A c.1451C>A (p.Pro484Gln) c.1448C>A (p.Pro483Gln) c.395C>A (p.Pro132Gln) c.1241C>A (p.Pro414Gln) c.761C>A (p.Pro254Gln) | |
| 12 | g.47987137G>A | CA384553928 | COL2A1 | c.1099C>T (p.Pro367Ser) c.1306C>T (p.Pro436Ser) n.230C>T c.1450C>T (p.Pro484Ser) c.1447C>T (p.Pro483Ser) c.394C>T (p.Pro132Ser) c.1240C>T (p.Pro414Ser) c.760C>T (p.Pro254Ser) | ClinVar |
| 12 | g.47987137G>C | CA384553930 | COL2A1 | c.1099C>G (p.Pro367Ala) c.1306C>G (p.Pro436Ala) n.230C>G c.1450C>G (p.Pro484Ala) c.1447C>G (p.Pro483Ala) c.394C>G (p.Pro132Ala) c.1240C>G (p.Pro414Ala) c.760C>G (p.Pro254Ala) | |
| 12 | g.47987137G>T | CA384553929 | COL2A1 | c.1099C>A (p.Pro367Thr) c.1306C>A (p.Pro436Thr) n.230C>A c.1450C>A (p.Pro484Thr) c.1447C>A (p.Pro483Thr) c.394C>A (p.Pro132Thr) c.1240C>A (p.Pro414Thr) c.760C>A (p.Pro254Thr) | |
| 12 | g.47987138C>A | CA6535522 | COL2A1 | c.1098G>T (p.Gly366=) c.1305G>T (p.Gly435=) n.229G>T c.1449G>T (p.Gly483=) c.1446G>T (p.Gly482=) c.393G>T (p.Gly131=) c.1239G>T (p.Gly413=) c.759G>T (p.Gly253=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987138C= | CA2034458492 | COL2A1 | c.1098G= (p.Gly366=) c.1305G= (p.Gly435=) n.229G= c.1449G= (p.Gly483=) c.1446G= (p.Gly482=) c.393G= (p.Gly131=) c.1239G= (p.Gly413=) c.759G= (p.Gly253=) | |
| 12 | g.47987138C>G | CA479473628 | COL2A1 | c.1098G>C (p.Gly366=) c.1305G>C (p.Gly435=) n.229G>C c.1449G>C (p.Gly483=) c.1446G>C (p.Gly482=) c.393G>C (p.Gly131=) c.1239G>C (p.Gly413=) c.759G>C (p.Gly253=) | |
| 12 | g.47987138C>T | CA479473631 | COL2A1 | c.1098G>A (p.Gly366=) c.1305G>A (p.Gly435=) n.229G>A c.1449G>A (p.Gly483=) c.1446G>A (p.Gly482=) c.393G>A (p.Gly131=) c.1239G>A (p.Gly413=) c.759G>A (p.Gly253=) | |
| 12 | g.47987139C>A | CA384553932 | COL2A1 | c.1097G>T (p.Gly366Val) c.1304G>T (p.Gly435Val) n.228G>T c.1448G>T (p.Gly483Val) c.1445G>T (p.Gly482Val) c.392G>T (p.Gly131Val) c.1238G>T (p.Gly413Val) c.758G>T (p.Gly253Val) | |
| 12 | g.47987139C>G | CA384553934 | COL2A1 | c.1097G>C (p.Gly366Ala) c.1304G>C (p.Gly435Ala) n.228G>C c.1448G>C (p.Gly483Ala) c.1445G>C (p.Gly482Ala) c.392G>C (p.Gly131Ala) c.1238G>C (p.Gly413Ala) c.758G>C (p.Gly253Ala) | |
| 12 | g.47987139C>T | CA384553936 | COL2A1 | c.1097G>A (p.Gly366Glu) c.1304G>A (p.Gly435Glu) n.228G>A c.1448G>A (p.Gly483Glu) c.1445G>A (p.Gly482Glu) c.392G>A (p.Gly131Glu) c.1238G>A (p.Gly413Glu) c.758G>A (p.Gly253Glu) | COSMIC COSMIC |
| 12 | g.47987140C>A | CA384553938 | COL2A1 | c.1096G>T (p.Gly366Trp) c.1303G>T (p.Gly435Trp) n.227G>T c.1447G>T (p.Gly483Trp) c.1444G>T (p.Gly482Trp) c.391G>T (p.Gly131Trp) c.1237G>T (p.Gly413Trp) c.757G>T (p.Gly253Trp) | |
| 12 | g.47987140C>G | CA384553942 | COL2A1 | c.1096G>C (p.Gly366Arg) c.1303G>C (p.Gly435Arg) n.227G>C c.1447G>C (p.Gly483Arg) c.1444G>C (p.Gly482Arg) c.391G>C (p.Gly131Arg) c.1237G>C (p.Gly413Arg) c.757G>C (p.Gly253Arg) | |
| 12 | g.47987140C>T | CA384553941 | COL2A1 | c.1096G>A (p.Gly366Arg) c.1303G>A (p.Gly435Arg) n.227G>A c.1447G>A (p.Gly483Arg) c.1444G>A (p.Gly482Arg) c.391G>A (p.Gly131Arg) c.1237G>A (p.Gly413Arg) c.757G>A (p.Gly253Arg) | |
| 12 | g.47987140_47987144delinsCAGGG | CA2034458493 | COL2A1 | c.1092_1096delinsCCCTG (p.Phe364=) c.1299_1303delinsCCCTG (p.Phe433=) n.223_227delinsCCCTG c.1443_1447delinsCCCTG (p.Phe481=) c.1440_1444delinsCCCTG (p.Phe480=) c.387_391delinsCCCTG (p.Phe129=) c.1233_1237delinsCCCTG (p.Phe411=) c.753_757delinsCCCTG (p.Phe251=) | |
| 12 | g.47987141A>C | CA479473643 | COL2A1 | c.1095T>G (p.Pro365=) c.1302T>G (p.Pro434=) n.226T>G c.1446T>G (p.Pro482=) c.1443T>G (p.Pro481=) c.390T>G (p.Pro130=) c.1236T>G (p.Pro412=) c.756T>G (p.Pro252=) | dbSNP gnomAD v4 |
| 12 | g.47987141A>G | CA479473644 | COL2A1 | c.1095T>C (p.Pro365=) c.1302T>C (p.Pro434=) n.226T>C c.1446T>C (p.Pro482=) c.1443T>C (p.Pro481=) c.390T>C (p.Pro130=) c.1236T>C (p.Pro412=) c.756T>C (p.Pro252=) | |
| 12 | g.47987141A>T | CA479473647 | COL2A1 | c.1095T>A (p.Pro365=) c.1302T>A (p.Pro434=) n.226T>A c.1446T>A (p.Pro482=) c.1443T>A (p.Pro481=) c.390T>A (p.Pro130=) c.1236T>A (p.Pro412=) c.756T>A (p.Pro252=) | |
| 12 | g.47987142_47987145del | CA658797890 | COL2A1 | c.1092_1095del (p.Phe364LeufsTer?) c.1299_1302del (p.Phe433LeufsTer?) n.223_226del c.1443_1446del (p.Phe481LeufsTer?) c.1440_1443del (p.Phe480LeufsTer?) c.387_390del (p.Phe129LeufsTer?) c.1233_1236del (p.Phe411LeufsTer?) c.753_756del (p.Phe251LeufsTer?) | ClinVar dbSNP |
| 12 | g.47987142G>A | CA384553944 | COL2A1 | c.1094C>T (p.Pro365Leu) c.1301C>T (p.Pro434Leu) n.225C>T c.1445C>T (p.Pro482Leu) c.1442C>T (p.Pro481Leu) c.389C>T (p.Pro130Leu) c.1235C>T (p.Pro412Leu) c.755C>T (p.Pro252Leu) | dbSNP gnomAD v4 |
| 12 | g.47987142G>C | CA384553946 | COL2A1 | c.1094C>G (p.Pro365Arg) c.1301C>G (p.Pro434Arg) n.225C>G c.1445C>G (p.Pro482Arg) c.1442C>G (p.Pro481Arg) c.389C>G (p.Pro130Arg) c.1235C>G (p.Pro412Arg) c.755C>G (p.Pro252Arg) | |
| 12 | g.47987142G= | CA2034458501 | COL2A1 | c.1094C= (p.Pro365=) c.1301C= (p.Pro434=) n.225C= c.1445C= (p.Pro482=) c.1442C= (p.Pro481=) c.389C= (p.Pro130=) c.1235C= (p.Pro412=) c.755C= (p.Pro252=) | |
| 12 | g.47987142G>T | CA384553947 | COL2A1 | c.1094C>A (p.Pro365His) c.1301C>A (p.Pro434His) n.225C>A c.1445C>A (p.Pro482His) c.1442C>A (p.Pro481His) c.389C>A (p.Pro130His) c.1235C>A (p.Pro412His) c.755C>A (p.Pro252His) | ClinVar dbSNP |
| 12 | g.47987143G>A | CA6535523 | COL2A1 | c.1093C>T (p.Pro365Ser) c.1300C>T (p.Pro434Ser) n.224C>T c.1444C>T (p.Pro482Ser) c.1441C>T (p.Pro481Ser) c.388C>T (p.Pro130Ser) c.1234C>T (p.Pro412Ser) c.754C>T (p.Pro252Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987143G>C | CA384553949 | COL2A1 | c.1093C>G (p.Pro365Ala) c.1300C>G (p.Pro434Ala) n.224C>G c.1444C>G (p.Pro482Ala) c.1441C>G (p.Pro481Ala) c.388C>G (p.Pro130Ala) c.1234C>G (p.Pro412Ala) c.754C>G (p.Pro252Ala) | |
| 12 | g.47987143G= | CA2034458505 | COL2A1 | c.1093C= (p.Pro365=) c.1300C= (p.Pro434=) n.224C= c.1444C= (p.Pro482=) c.1441C= (p.Pro481=) c.388C= (p.Pro130=) c.1234C= (p.Pro412=) c.754C= (p.Pro252=) | |
| 12 | g.47987143G>T | CA384553951 | COL2A1 | c.1093C>A (p.Pro365Thr) c.1300C>A (p.Pro434Thr) n.224C>A c.1444C>A (p.Pro482Thr) c.1441C>A (p.Pro481Thr) c.388C>A (p.Pro130Thr) c.1234C>A (p.Pro412Thr) c.754C>A (p.Pro252Thr) | |
| 12 | g.47987144G>A | CA6535524 | COL2A1 | c.1092C>T (p.Phe364=) c.1299C>T (p.Phe433=) n.223C>T c.1443C>T (p.Phe481=) c.1440C>T (p.Phe480=) c.387C>T (p.Phe129=) c.1233C>T (p.Phe411=) c.753C>T (p.Phe251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987144G>C | CA384553954 | COL2A1 | c.1092C>G (p.Phe364Leu) c.1299C>G (p.Phe433Leu) n.223C>G c.1443C>G (p.Phe481Leu) c.1440C>G (p.Phe480Leu) c.387C>G (p.Phe129Leu) c.1233C>G (p.Phe411Leu) c.753C>G (p.Phe251Leu) | |
| 12 | g.47987144G= | CA2034458511 | COL2A1 | c.1092C= (p.Phe364=) c.1299C= (p.Phe433=) n.223C= c.1443C= (p.Phe481=) c.1440C= (p.Phe480=) c.387C= (p.Phe129=) c.1233C= (p.Phe411=) c.753C= (p.Phe251=) | |
| 12 | g.47987144G>T | CA384553956 | COL2A1 | c.1092C>A (p.Phe364Leu) c.1299C>A (p.Phe433Leu) n.223C>A c.1443C>A (p.Phe481Leu) c.1440C>A (p.Phe480Leu) c.387C>A (p.Phe129Leu) c.1233C>A (p.Phe411Leu) c.753C>A (p.Phe251Leu) | |
| 12 | g.47987145A>C | CA384553958 | COL2A1 | c.1091T>G (p.Phe364Cys) c.1298T>G (p.Phe433Cys) n.222T>G c.1442T>G (p.Phe481Cys) c.1439T>G (p.Phe480Cys) c.386T>G (p.Phe129Cys) c.1232T>G (p.Phe411Cys) c.752T>G (p.Phe251Cys) | |
| 12 | g.47987145A>G | CA384553959 | COL2A1 | c.1091T>C (p.Phe364Ser) c.1298T>C (p.Phe433Ser) n.222T>C c.1442T>C (p.Phe481Ser) c.1439T>C (p.Phe480Ser) c.386T>C (p.Phe129Ser) c.1232T>C (p.Phe411Ser) c.752T>C (p.Phe251Ser) | dbSNP |
| 12 | g.47987145A>T | CA384553961 | COL2A1 | c.1091T>A (p.Phe364Tyr) c.1298T>A (p.Phe433Tyr) n.222T>A c.1442T>A (p.Phe481Tyr) c.1439T>A (p.Phe480Tyr) c.386T>A (p.Phe129Tyr) c.1232T>A (p.Phe411Tyr) c.752T>A (p.Phe251Tyr) | gnomAD v4 |
| 12 | g.47987146A= | CA2034458513 | COL2A1 | c.1090T= (p.Phe364=) c.1297T= (p.Phe433=) n.221T= c.1441T= (p.Phe481=) c.1438T= (p.Phe480=) c.385T= (p.Phe129=) c.1231T= (p.Phe411=) c.751T= (p.Phe251=) | |
| 12 | g.47987146A>C | CA384553966 | COL2A1 | c.1090T>G (p.Phe364Val) c.1297T>G (p.Phe433Val) n.221T>G c.1441T>G (p.Phe481Val) c.1438T>G (p.Phe480Val) c.385T>G (p.Phe129Val) c.1231T>G (p.Phe411Val) c.751T>G (p.Phe251Val) | COSMIC COSMIC |
| 12 | g.47987146A>G | CA384553963 | COL2A1 | c.1090T>C (p.Phe364Leu) c.1297T>C (p.Phe433Leu) n.221T>C c.1441T>C (p.Phe481Leu) c.1438T>C (p.Phe480Leu) c.385T>C (p.Phe129Leu) c.1231T>C (p.Phe411Leu) c.751T>C (p.Phe251Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47987146A>T | CA384553965 | COL2A1 | c.1090T>A (p.Phe364Ile) c.1297T>A (p.Phe433Ile) n.221T>A c.1441T>A (p.Phe481Ile) c.1438T>A (p.Phe480Ile) c.385T>A (p.Phe129Ile) c.1231T>A (p.Phe411Ile) c.751T>A (p.Phe251Ile) | |
| 12 | g.47987147G>A | CA479473698 | COL2A1 | c.1089C>T (p.Gly363=) c.1296C>T (p.Gly432=) n.220C>T c.1440C>T (p.Gly480=) c.1437C>T (p.Gly479=) c.384C>T (p.Gly128=) c.1230C>T (p.Gly410=) c.750C>T (p.Gly250=) | |
| 12 | g.47987147G>C | CA479473701 | COL2A1 | c.1089C>G (p.Gly363=) c.1296C>G (p.Gly432=) n.220C>G c.1440C>G (p.Gly480=) c.1437C>G (p.Gly479=) c.384C>G (p.Gly128=) c.1230C>G (p.Gly410=) c.750C>G (p.Gly250=) | |
| 12 | g.47987147G>T | CA479473704 | COL2A1 | c.1089C>A (p.Gly363=) c.1296C>A (p.Gly432=) n.220C>A c.1440C>A (p.Gly480=) c.1437C>A (p.Gly479=) c.384C>A (p.Gly128=) c.1230C>A (p.Gly410=) c.750C>A (p.Gly250=) | |
| 12 | g.47987159_47987176del | CA913189085 | COL2A1 | c.1072_1089del (p.Ile358_Gly363del) c.1279_1296del (p.Ile427_Gly432del) n.203_220del c.1423_1440del (p.Ile475_Gly480del) c.1420_1437del (p.Ile474_Gly479del) c.367_384del (p.Ile123_Gly128del) c.1213_1230del (p.Ile405_Gly410del) c.733_750del (p.Ile245_Gly250del) | |
| 12 | g.47987148C>A | CA384553968 | COL2A1 | c.1088G>T (p.Gly363Val) c.1295G>T (p.Gly432Val) n.219G>T c.1439G>T (p.Gly480Val) c.1436G>T (p.Gly479Val) c.383G>T (p.Gly128Val) c.1229G>T (p.Gly410Val) c.749G>T (p.Gly250Val) | COSMIC COSMIC |
| 12 | g.47987148C>G | CA384553970 | COL2A1 | c.1088G>C (p.Gly363Ala) c.1295G>C (p.Gly432Ala) n.219G>C c.1439G>C (p.Gly480Ala) c.1436G>C (p.Gly479Ala) c.383G>C (p.Gly128Ala) c.1229G>C (p.Gly410Ala) c.749G>C (p.Gly250Ala) | |
| 12 | g.47987148C>T | CA384553972 | COL2A1 | c.1088G>A (p.Gly363Asp) c.1295G>A (p.Gly432Asp) n.219G>A c.1439G>A (p.Gly480Asp) c.1436G>A (p.Gly479Asp) c.383G>A (p.Gly128Asp) c.1229G>A (p.Gly410Asp) c.749G>A (p.Gly250Asp) | |
| 12 | g.47987149C>A | CA384553974 | COL2A1 | c.1087G>T (p.Gly363Cys) c.1294G>T (p.Gly432Cys) n.218G>T c.1438G>T (p.Gly480Cys) c.1435G>T (p.Gly479Cys) c.382G>T (p.Gly128Cys) c.1228G>T (p.Gly410Cys) c.748G>T (p.Gly250Cys) | |
| 12 | g.47987149C>G | CA384553976 | COL2A1 | c.1087G>C (p.Gly363Arg) c.1294G>C (p.Gly432Arg) n.218G>C c.1438G>C (p.Gly480Arg) c.1435G>C (p.Gly479Arg) c.382G>C (p.Gly128Arg) c.1228G>C (p.Gly410Arg) c.748G>C (p.Gly250Arg) | |
| 12 | g.47987149C>T | CA384553978 | COL2A1 | c.1087G>A (p.Gly363Ser) c.1294G>A (p.Gly432Ser) n.218G>A c.1438G>A (p.Gly480Ser) c.1435G>A (p.Gly479Ser) c.382G>A (p.Gly128Ser) c.1228G>A (p.Gly410Ser) c.748G>A (p.Gly250Ser) | |
| 12 | g.47987150A>C | CA479473719 | COL2A1 | c.1086T>G (p.Pro362=) c.1293T>G (p.Pro431=) n.217T>G c.1437T>G (p.Pro479=) c.1434T>G (p.Pro478=) c.381T>G (p.Pro127=) c.1227T>G (p.Pro409=) c.747T>G (p.Pro249=) | |
| 12 | g.47987150A>G | CA479473726 | COL2A1 | c.1086T>C (p.Pro362=) c.1293T>C (p.Pro431=) n.217T>C c.1437T>C (p.Pro479=) c.1434T>C (p.Pro478=) c.381T>C (p.Pro127=) c.1227T>C (p.Pro409=) c.747T>C (p.Pro249=) | |
| 12 | g.47987150A>T | CA479473728 | COL2A1 | c.1086T>A (p.Pro362=) c.1293T>A (p.Pro431=) n.217T>A c.1437T>A (p.Pro479=) c.1434T>A (p.Pro478=) c.381T>A (p.Pro127=) c.1227T>A (p.Pro409=) c.747T>A (p.Pro249=) | |
| 12 | g.47987151G>A | CA384553981 | COL2A1 | c.1085C>T (p.Pro362Leu) c.1292C>T (p.Pro431Leu) n.216C>T c.1436C>T (p.Pro479Leu) c.1433C>T (p.Pro478Leu) c.380C>T (p.Pro127Leu) c.1226C>T (p.Pro409Leu) c.746C>T (p.Pro249Leu) | |
| 12 | g.47987151G>C | CA384553982 | COL2A1 | c.1085C>G (p.Pro362Arg) c.1292C>G (p.Pro431Arg) n.216C>G c.1436C>G (p.Pro479Arg) c.1433C>G (p.Pro478Arg) c.380C>G (p.Pro127Arg) c.1226C>G (p.Pro409Arg) c.746C>G (p.Pro249Arg) | |
| 12 | g.47987151G>T | CA384553983 | COL2A1 | c.1085C>A (p.Pro362His) c.1292C>A (p.Pro431His) n.216C>A c.1436C>A (p.Pro479His) c.1433C>A (p.Pro478His) c.380C>A (p.Pro127His) c.1226C>A (p.Pro409His) c.746C>A (p.Pro249His) | |
| 12 | g.47987152G>A | CA384553985 | COL2A1 | c.1084C>T (p.Pro362Ser) c.1291C>T (p.Pro431Ser) n.215C>T c.1435C>T (p.Pro479Ser) c.1432C>T (p.Pro478Ser) c.379C>T (p.Pro127Ser) c.1225C>T (p.Pro409Ser) c.745C>T (p.Pro249Ser) | |
| 12 | g.47987152G>C | CA384553987 | COL2A1 | c.1084C>G (p.Pro362Ala) c.1291C>G (p.Pro431Ala) n.215C>G c.1435C>G (p.Pro479Ala) c.1432C>G (p.Pro478Ala) c.379C>G (p.Pro127Ala) c.1225C>G (p.Pro409Ala) c.745C>G (p.Pro249Ala) | |
| 12 | g.47987152G>T | CA384553989 | COL2A1 | c.1084C>A (p.Pro362Thr) c.1291C>A (p.Pro431Thr) n.215C>A c.1435C>A (p.Pro479Thr) c.1432C>A (p.Pro478Thr) c.379C>A (p.Pro127Thr) c.1225C>A (p.Pro409Thr) c.745C>A (p.Pro249Thr) | |
| 12 | g.47987153A>C | CA479473747 | COL2A1 | c.1083T>G (p.Ala361=) c.1290T>G (p.Ala430=) n.214T>G c.1434T>G (p.Ala478=) c.1431T>G (p.Ala477=) c.378T>G (p.Ala126=) c.1224T>G (p.Ala408=) c.744T>G (p.Ala248=) | |
| 12 | g.47987153A>G | CA479473750 | COL2A1 | c.1083T>C (p.Ala361=) c.1290T>C (p.Ala430=) n.214T>C c.1434T>C (p.Ala478=) c.1431T>C (p.Ala477=) c.378T>C (p.Ala126=) c.1224T>C (p.Ala408=) c.744T>C (p.Ala248=) | |
| 12 | g.47987153A>T | CA479473753 | COL2A1 | c.1083T>A (p.Ala361=) c.1290T>A (p.Ala430=) n.214T>A c.1434T>A (p.Ala478=) c.1431T>A (p.Ala477=) c.378T>A (p.Ala126=) c.1224T>A (p.Ala408=) c.744T>A (p.Ala248=) | |
| 12 | g.47987154G>A | CA384553995 | COL2A1 | c.1082C>T (p.Ala361Val) c.1289C>T (p.Ala430Val) n.213C>T c.1433C>T (p.Ala478Val) c.1430C>T (p.Ala477Val) c.377C>T (p.Ala126Val) c.1223C>T (p.Ala408Val) c.743C>T (p.Ala248Val) | gnomAD v4 |
| 12 | g.47987154G>C | CA384553993 | COL2A1 | c.1082C>G (p.Ala361Gly) c.1289C>G (p.Ala430Gly) n.213C>G c.1433C>G (p.Ala478Gly) c.1430C>G (p.Ala477Gly) c.377C>G (p.Ala126Gly) c.1223C>G (p.Ala408Gly) c.743C>G (p.Ala248Gly) | |
| 12 | g.47987154G>T | CA384553991 | COL2A1 | c.1082C>A (p.Ala361Asp) c.1289C>A (p.Ala430Asp) n.213C>A c.1433C>A (p.Ala478Asp) c.1430C>A (p.Ala477Asp) c.377C>A (p.Ala126Asp) c.1223C>A (p.Ala408Asp) c.743C>A (p.Ala248Asp) | |
| 12 | g.47987155C>A | CA384553996 | COL2A1 | c.1081G>T (p.Ala361Ser) c.1288G>T (p.Ala430Ser) n.212G>T c.1432G>T (p.Ala478Ser) c.1429G>T (p.Ala477Ser) c.376G>T (p.Ala126Ser) c.1222G>T (p.Ala408Ser) c.742G>T (p.Ala248Ser) | |
| 12 | g.47987155C>G | CA384553998 | COL2A1 | c.1081G>C (p.Ala361Pro) c.1288G>C (p.Ala430Pro) n.212G>C c.1432G>C (p.Ala478Pro) c.1429G>C (p.Ala477Pro) c.376G>C (p.Ala126Pro) c.1222G>C (p.Ala408Pro) c.742G>C (p.Ala248Pro) | |
| 12 | g.47987155C>T | CA384554000 | COL2A1 | c.1081G>A (p.Ala361Thr) c.1288G>A (p.Ala430Thr) n.212G>A c.1432G>A (p.Ala478Thr) c.1429G>A (p.Ala477Thr) c.376G>A (p.Ala126Thr) c.1222G>A (p.Ala408Thr) c.742G>A (p.Ala248Thr) | gnomAD v4 |
| 12 | g.47987156A= | CA2034458519 | COL2A1 | c.1080T= (p.Gly360=) c.1287T= (p.Gly429=) n.211T= c.1431T= (p.Gly477=) c.1428T= (p.Gly476=) c.375T= (p.Gly125=) c.1221T= (p.Gly407=) c.741T= (p.Gly247=) | |
| 12 | g.47987156A>C | CA479473772 | COL2A1 | c.1080T>G (p.Gly360=) c.1287T>G (p.Gly429=) n.211T>G c.1431T>G (p.Gly477=) c.1428T>G (p.Gly476=) c.375T>G (p.Gly125=) c.1221T>G (p.Gly407=) c.741T>G (p.Gly247=) | |
| 12 | g.47987156A>G | CA6535525 | COL2A1 | c.1080T>C (p.Gly360=) c.1287T>C (p.Gly429=) n.211T>C c.1431T>C (p.Gly477=) c.1428T>C (p.Gly476=) c.375T>C (p.Gly125=) c.1221T>C (p.Gly407=) c.741T>C (p.Gly247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987156A>T | CA479473770 | COL2A1 | c.1080T>A (p.Gly360=) c.1287T>A (p.Gly429=) n.211T>A c.1431T>A (p.Gly477=) c.1428T>A (p.Gly476=) c.375T>A (p.Gly125=) c.1221T>A (p.Gly407=) c.741T>A (p.Gly247=) | |
| 12 | g.47987157C>A | CA384554002 | COL2A1 | c.1079G>T (p.Gly360Val) c.1286G>T (p.Gly429Val) n.210G>T c.1430G>T (p.Gly477Val) c.1427G>T (p.Gly476Val) c.374G>T (p.Gly125Val) c.1220G>T (p.Gly407Val) c.740G>T (p.Gly247Val) | |
| 12 | g.47987157C>G | CA384554004 | COL2A1 | c.1079G>C (p.Gly360Ala) c.1286G>C (p.Gly429Ala) n.210G>C c.1430G>C (p.Gly477Ala) c.1427G>C (p.Gly476Ala) c.374G>C (p.Gly125Ala) c.1220G>C (p.Gly407Ala) c.740G>C (p.Gly247Ala) | |
| 12 | g.47987157C>T | CA384554006 | COL2A1 | c.1079G>A (p.Gly360Asp) c.1286G>A (p.Gly429Asp) n.210G>A c.1430G>A (p.Gly477Asp) c.1427G>A (p.Gly476Asp) c.374G>A (p.Gly125Asp) c.1220G>A (p.Gly407Asp) c.740G>A (p.Gly247Asp) | ClinVar |
| 12 | g.47987157_47987158insA | CA2795863964 | COL2A1 | c.1078_1079insT (p.Gly360ValfsTer29) c.1285_1286insT (p.Gly429ValfsTer29) n.209_210insT c.1429_1430insT (p.Gly477ValfsTer29) c.1426_1427insT (p.Gly476ValfsTer29) c.373_374insT (p.Gly125ValfsTer29) c.1219_1220insT (p.Gly407ValfsTer29) c.739_740insT (p.Gly247ValfsTer29) | |
| 12 | g.47987158C>A | CA384554008 | COL2A1 | c.1078G>T (p.Gly360Cys) c.1285G>T (p.Gly429Cys) n.209G>T c.1429G>T (p.Gly477Cys) c.1426G>T (p.Gly476Cys) c.373G>T (p.Gly125Cys) c.1219G>T (p.Gly407Cys) c.739G>T (p.Gly247Cys) | |
| 12 | g.47987158C>G | CA384554010 | COL2A1 | c.1078G>C (p.Gly360Arg) c.1285G>C (p.Gly429Arg) n.209G>C c.1429G>C (p.Gly477Arg) c.1426G>C (p.Gly476Arg) c.373G>C (p.Gly125Arg) c.1219G>C (p.Gly407Arg) c.739G>C (p.Gly247Arg) | |
| 12 | g.47987158C>T | CA384554011 | COL2A1 | c.1078G>A (p.Gly360Ser) c.1285G>A (p.Gly429Ser) n.209G>A c.1429G>A (p.Gly477Ser) c.1426G>A (p.Gly476Ser) c.373G>A (p.Gly125Ser) c.1219G>A (p.Gly407Ser) c.739G>A (p.Gly247Ser) | |
| 12 | g.47987159A>C | CA479473776 | COL2A1 | c.1077T>G (p.Ala359=) c.1284T>G (p.Ala428=) n.208T>G c.1428T>G (p.Ala476=) c.1425T>G (p.Ala475=) c.372T>G (p.Ala124=) c.1218T>G (p.Ala406=) c.738T>G (p.Ala246=) | |
| 12 | g.47987159A>G | CA479473778 | COL2A1 | c.1077T>C (p.Ala359=) c.1284T>C (p.Ala428=) n.208T>C c.1428T>C (p.Ala476=) c.1425T>C (p.Ala475=) c.372T>C (p.Ala124=) c.1218T>C (p.Ala406=) c.738T>C (p.Ala246=) | |
| 12 | g.47987159A>T | CA479473780 | COL2A1 | c.1077T>A (p.Ala359=) c.1284T>A (p.Ala428=) n.208T>A c.1428T>A (p.Ala476=) c.1425T>A (p.Ala475=) c.372T>A (p.Ala124=) c.1218T>A (p.Ala406=) c.738T>A (p.Ala246=) | |
| 12 | g.47987159dup | CA2739271963 | COL2A1 | c.1077dup (p.Gly360TrpfsTer29) c.1284dup (p.Gly429TrpfsTer29) n.208dup c.1428dup (p.Gly477TrpfsTer29) c.1425dup (p.Gly476TrpfsTer29) c.372dup (p.Gly125TrpfsTer29) c.1218dup (p.Gly407TrpfsTer29) c.738dup (p.Gly247TrpfsTer29) | ClinVar |
| 12 | g.47987160G>A | CA384554012 | COL2A1 | c.1076C>T (p.Ala359Val) c.1283C>T (p.Ala428Val) n.207C>T c.1427C>T (p.Ala476Val) c.1424C>T (p.Ala475Val) c.371C>T (p.Ala124Val) c.1217C>T (p.Ala406Val) c.737C>T (p.Ala246Val) | ClinVar |
| 12 | g.47987160G>C | CA384554013 | COL2A1 | c.1076C>G (p.Ala359Gly) c.1283C>G (p.Ala428Gly) n.207C>G c.1427C>G (p.Ala476Gly) c.1424C>G (p.Ala475Gly) c.371C>G (p.Ala124Gly) c.1217C>G (p.Ala406Gly) c.737C>G (p.Ala246Gly) | ClinVar dbSNP |
| 12 | g.47987160G= | CA2034458527 | COL2A1 | c.1076C= (p.Ala359=) c.1283C= (p.Ala428=) n.207C= c.1427C= (p.Ala476=) c.1424C= (p.Ala475=) c.371C= (p.Ala124=) c.1217C= (p.Ala406=) c.737C= (p.Ala246=) | |
| 12 | g.47987160G>T | CA384554015 | COL2A1 | c.1076C>A (p.Ala359Asp) c.1283C>A (p.Ala428Asp) n.207C>A c.1427C>A (p.Ala476Asp) c.1424C>A (p.Ala475Asp) c.371C>A (p.Ala124Asp) c.1217C>A (p.Ala406Asp) c.737C>A (p.Ala246Asp) | dbSNP |
| 12 | g.47987161C>A | CA384554019 | COL2A1 | c.1075G>T (p.Ala359Ser) c.1282G>T (p.Ala428Ser) n.206G>T c.1426G>T (p.Ala476Ser) c.1423G>T (p.Ala475Ser) c.370G>T (p.Ala124Ser) c.1216G>T (p.Ala406Ser) c.736G>T (p.Ala246Ser) | |
| 12 | g.47987161C>G | CA384554021 | COL2A1 | c.1075G>C (p.Ala359Pro) c.1282G>C (p.Ala428Pro) n.206G>C c.1426G>C (p.Ala476Pro) c.1423G>C (p.Ala475Pro) c.370G>C (p.Ala124Pro) c.1216G>C (p.Ala406Pro) c.736G>C (p.Ala246Pro) | |
| 12 | g.47987161C>T | CA384554017 | COL2A1 | c.1075G>A (p.Ala359Thr) c.1282G>A (p.Ala428Thr) n.206G>A c.1426G>A (p.Ala476Thr) c.1423G>A (p.Ala475Thr) c.370G>A (p.Ala124Thr) c.1216G>A (p.Ala406Thr) c.736G>A (p.Ala246Thr) | |
| 12 | g.47987162A>C | CA384554022 | COL2A1 | c.1074T>G (p.Ile358Met) c.1281T>G (p.Ile427Met) n.205T>G c.1425T>G (p.Ile475Met) c.1422T>G (p.Ile474Met) c.369T>G (p.Ile123Met) c.1215T>G (p.Ile405Met) c.735T>G (p.Ile245Met) | |
| 12 | g.47987162A>G | CA479473796 | COL2A1 | c.1074T>C (p.Ile358=) c.1281T>C (p.Ile427=) n.205T>C c.1425T>C (p.Ile475=) c.1422T>C (p.Ile474=) c.369T>C (p.Ile123=) c.1215T>C (p.Ile405=) c.735T>C (p.Ile245=) | |
| 12 | g.47987162A>T | CA479473798 | COL2A1 | c.1074T>A (p.Ile358=) c.1281T>A (p.Ile427=) n.205T>A c.1425T>A (p.Ile475=) c.1422T>A (p.Ile474=) c.369T>A (p.Ile123=) c.1215T>A (p.Ile405=) c.735T>A (p.Ile245=) | |
| 12 | g.47987163A>C | CA384554028 | COL2A1 | c.1073T>G (p.Ile358Ser) c.1280T>G (p.Ile427Ser) n.204T>G c.1424T>G (p.Ile475Ser) c.1421T>G (p.Ile474Ser) c.368T>G (p.Ile123Ser) c.1214T>G (p.Ile405Ser) c.734T>G (p.Ile245Ser) | |
| 12 | g.47987163A>G | CA384554024 | COL2A1 | c.1073T>C (p.Ile358Thr) c.1280T>C (p.Ile427Thr) n.204T>C c.1424T>C (p.Ile475Thr) c.1421T>C (p.Ile474Thr) c.368T>C (p.Ile123Thr) c.1214T>C (p.Ile405Thr) c.734T>C (p.Ile245Thr) | |
| 12 | g.47987163A>T | CA384554026 | COL2A1 | c.1073T>A (p.Ile358Asn) c.1280T>A (p.Ile427Asn) n.204T>A c.1424T>A (p.Ile475Asn) c.1421T>A (p.Ile474Asn) c.368T>A (p.Ile123Asn) c.1214T>A (p.Ile405Asn) c.734T>A (p.Ile245Asn) | |
| 12 | g.47987164T>A | CA384554029 | COL2A1 | c.1072A>T (p.Ile358Phe) c.1279A>T (p.Ile427Phe) n.203A>T c.1423A>T (p.Ile475Phe) c.1420A>T (p.Ile474Phe) c.367A>T (p.Ile123Phe) c.1213A>T (p.Ile405Phe) c.733A>T (p.Ile245Phe) | |
| 12 | g.47987164T>C | CA384554031 | COL2A1 | c.1072A>G (p.Ile358Val) c.1279A>G (p.Ile427Val) n.203A>G c.1423A>G (p.Ile475Val) c.1420A>G (p.Ile474Val) c.367A>G (p.Ile123Val) c.1213A>G (p.Ile405Val) c.733A>G (p.Ile245Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987164T>G | CA384554033 | COL2A1 | c.1072A>C (p.Ile358Leu) c.1279A>C (p.Ile427Leu) n.203A>C c.1423A>C (p.Ile475Leu) c.1420A>C (p.Ile474Leu) c.367A>C (p.Ile123Leu) c.1213A>C (p.Ile405Leu) c.733A>C (p.Ile245Leu) | |
| 12 | g.47987164T= | CA2034458532 | COL2A1 | c.1072A= (p.Ile358=) c.1279A= (p.Ile427=) n.203A= c.1423A= (p.Ile475=) c.1420A= (p.Ile474=) c.367A= (p.Ile123=) c.1213A= (p.Ile405=) c.733A= (p.Ile245=) | |
| 12 | g.47987165G>A | CA479473805 | COL2A1 | c.1071C>T (p.Gly357=) c.1278C>T (p.Gly426=) n.202C>T c.1422C>T (p.Gly474=) c.1419C>T (p.Gly473=) c.366C>T (p.Gly122=) c.1212C>T (p.Gly404=) c.732C>T (p.Gly244=) | |
| 12 | g.47987165G>C | CA479473803 | COL2A1 | c.1071C>G (p.Gly357=) c.1278C>G (p.Gly426=) n.202C>G c.1422C>G (p.Gly474=) c.1419C>G (p.Gly473=) c.366C>G (p.Gly122=) c.1212C>G (p.Gly404=) c.732C>G (p.Gly244=) | |
| 12 | g.47987165G= | CA2034458540 | COL2A1 | c.1071C= (p.Gly357=) c.1278C= (p.Gly426=) n.202C= c.1422C= (p.Gly474=) c.1419C= (p.Gly473=) c.366C= (p.Gly122=) c.1212C= (p.Gly404=) c.732C= (p.Gly244=) | |
| 12 | g.47987165G>T | CA6535526 | COL2A1 | c.1071C>A (p.Gly357=) c.1278C>A (p.Gly426=) n.202C>A c.1422C>A (p.Gly474=) c.1419C>A (p.Gly473=) c.366C>A (p.Gly122=) c.1212C>A (p.Gly404=) c.732C>A (p.Gly244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47987166C>A | CA384554036 | COL2A1 | c.1070G>T (p.Gly357Val) c.1277G>T (p.Gly426Val) n.201G>T c.1421G>T (p.Gly474Val) c.1418G>T (p.Gly473Val) c.365G>T (p.Gly122Val) c.1211G>T (p.Gly404Val) c.731G>T (p.Gly244Val) | |
| 12 | g.47987166C>G | CA384554037 | COL2A1 | c.1070G>C (p.Gly357Ala) c.1277G>C (p.Gly426Ala) n.201G>C c.1421G>C (p.Gly474Ala) c.1418G>C (p.Gly473Ala) c.365G>C (p.Gly122Ala) c.1211G>C (p.Gly404Ala) c.731G>C (p.Gly244Ala) | |
| 12 | g.47987166C>T | CA384554038 | COL2A1 | c.1070G>A (p.Gly357Asp) c.1277G>A (p.Gly426Asp) n.201G>A c.1421G>A (p.Gly474Asp) c.1418G>A (p.Gly473Asp) c.365G>A (p.Gly122Asp) c.1211G>A (p.Gly404Asp) c.731G>A (p.Gly244Asp) | |
| 12 | g.47987167C>A | CA384554039 | COL2A1 | c.1069G>T (p.Gly357Cys) c.1276G>T (p.Gly426Cys) n.200G>T c.1420G>T (p.Gly474Cys) c.1417G>T (p.Gly473Cys) c.364G>T (p.Gly122Cys) c.1210G>T (p.Gly404Cys) c.730G>T (p.Gly244Cys) | |
| 12 | g.47987167C>G | CA384554041 | COL2A1 | c.1069G>C (p.Gly357Arg) c.1276G>C (p.Gly426Arg) n.200G>C c.1420G>C (p.Gly474Arg) c.1417G>C (p.Gly473Arg) c.364G>C (p.Gly122Arg) c.1210G>C (p.Gly404Arg) c.730G>C (p.Gly244Arg) | |
| 12 | g.47987167C>T | CA384554042 | COL2A1 | c.1069G>A (p.Gly357Ser) c.1276G>A (p.Gly426Ser) n.200G>A c.1420G>A (p.Gly474Ser) c.1417G>A (p.Gly473Ser) c.364G>A (p.Gly122Ser) c.1210G>A (p.Gly404Ser) c.730G>A (p.Gly244Ser) | |
| 12 | g.47987168A>C | CA479473834 | COL2A1 | c.1068T>G (p.Pro356=) c.1275T>G (p.Pro425=) n.199T>G c.1419T>G (p.Pro473=) c.1416T>G (p.Pro472=) c.363T>G (p.Pro121=) c.1209T>G (p.Pro403=) c.729T>G (p.Pro243=) | |
| 12 | g.47987168A>G | CA479473838 | COL2A1 | c.1068T>C (p.Pro356=) c.1275T>C (p.Pro425=) n.199T>C c.1419T>C (p.Pro473=) c.1416T>C (p.Pro472=) c.363T>C (p.Pro121=) c.1209T>C (p.Pro403=) c.729T>C (p.Pro243=) | |
| 12 | g.47987168A>T | CA479473835 | COL2A1 | c.1068T>A (p.Pro356=) c.1275T>A (p.Pro425=) n.199T>A c.1419T>A (p.Pro473=) c.1416T>A (p.Pro472=) c.363T>A (p.Pro121=) c.1209T>A (p.Pro403=) c.729T>A (p.Pro243=) | |
| 12 | g.47987169G>A | CA236527953 | COL2A1 | c.1067C>T (p.Pro356Leu) c.1274C>T (p.Pro425Leu) n.198C>T c.1418C>T (p.Pro473Leu) c.1415C>T (p.Pro472Leu) c.362C>T (p.Pro121Leu) c.1208C>T (p.Pro403Leu) c.728C>T (p.Pro243Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987169G>C | CA384554046 | COL2A1 | c.1067C>G (p.Pro356Arg) c.1274C>G (p.Pro425Arg) n.198C>G c.1418C>G (p.Pro473Arg) c.1415C>G (p.Pro472Arg) c.362C>G (p.Pro121Arg) c.1208C>G (p.Pro403Arg) c.728C>G (p.Pro243Arg) | |
| 12 | g.47987169G= | CA2034458542 | COL2A1 | c.1067C= (p.Pro356=) c.1274C= (p.Pro425=) n.198C= c.1418C= (p.Pro473=) c.1415C= (p.Pro472=) c.362C= (p.Pro121=) c.1208C= (p.Pro403=) c.728C= (p.Pro243=) | |
| 12 | g.47987169G>T | CA384554045 | COL2A1 | c.1067C>A (p.Pro356His) c.1274C>A (p.Pro425His) n.198C>A c.1418C>A (p.Pro473His) c.1415C>A (p.Pro472His) c.362C>A (p.Pro121His) c.1208C>A (p.Pro403His) c.728C>A (p.Pro243His) | |
| 12 | g.47987170G>A | CA384554048 | COL2A1 | c.1066C>T (p.Pro356Ser) c.1273C>T (p.Pro425Ser) n.197C>T c.1417C>T (p.Pro473Ser) c.1414C>T (p.Pro472Ser) c.361C>T (p.Pro121Ser) c.1207C>T (p.Pro403Ser) c.727C>T (p.Pro243Ser) | |
| 12 | g.47987170G>C | CA384554050 | COL2A1 | c.1066C>G (p.Pro356Ala) c.1273C>G (p.Pro425Ala) n.197C>G c.1417C>G (p.Pro473Ala) c.1414C>G (p.Pro472Ala) c.361C>G (p.Pro121Ala) c.1207C>G (p.Pro403Ala) c.727C>G (p.Pro243Ala) | |
| 12 | g.47987170G>T | CA384554051 | COL2A1 | c.1066C>A (p.Pro356Thr) c.1273C>A (p.Pro425Thr) n.197C>A c.1417C>A (p.Pro473Thr) c.1414C>A (p.Pro472Thr) c.361C>A (p.Pro121Thr) c.1207C>A (p.Pro403Thr) c.727C>A (p.Pro243Thr) | |
| 12 | g.47987171A= | CA2034458545 | COL2A1 | c.1065T= (p.Ala355=) c.1272T= (p.Ala424=) n.196T= c.1416T= (p.Ala472=) c.1413T= (p.Ala471=) c.360T= (p.Ala120=) c.1206T= (p.Ala402=) c.726T= (p.Ala242=) | |
| 12 | g.47987171A>C | CA479473856 | COL2A1 | c.1065T>G (p.Ala355=) c.1272T>G (p.Ala424=) n.196T>G c.1416T>G (p.Ala472=) c.1413T>G (p.Ala471=) c.360T>G (p.Ala120=) c.1206T>G (p.Ala402=) c.726T>G (p.Ala242=) | |
| 12 | g.47987171A>G | CA479473866 | COL2A1 | c.1065T>C (p.Ala355=) c.1272T>C (p.Ala424=) n.196T>C c.1416T>C (p.Ala472=) c.1413T>C (p.Ala471=) c.360T>C (p.Ala120=) c.1206T>C (p.Ala402=) c.726T>C (p.Ala242=) | |
| 12 | g.47987171A>T | CA236527955 | COL2A1 | c.1065T>A (p.Ala355=) c.1272T>A (p.Ala424=) n.196T>A c.1416T>A (p.Ala472=) c.1413T>A (p.Ala471=) c.360T>A (p.Ala120=) c.1206T>A (p.Ala402=) c.726T>A (p.Ala242=) | dbSNP |
| 12 | g.47987172G>A | CA384554058 | COL2A1 | c.1064C>T (p.Ala355Val) c.1271C>T (p.Ala424Val) n.195C>T c.1415C>T (p.Ala472Val) c.1412C>T (p.Ala471Val) c.359C>T (p.Ala120Val) c.1205C>T (p.Ala402Val) c.725C>T (p.Ala242Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47987172G>C | CA384554059 | COL2A1 | c.1064C>G (p.Ala355Gly) c.1271C>G (p.Ala424Gly) n.195C>G c.1415C>G (p.Ala472Gly) c.1412C>G (p.Ala471Gly) c.359C>G (p.Ala120Gly) c.1205C>G (p.Ala402Gly) c.725C>G (p.Ala242Gly) | |
| 12 | g.47987172G= | CA2034458551 | COL2A1 | c.1064C= (p.Ala355=) c.1271C= (p.Ala424=) n.195C= c.1415C= (p.Ala472=) c.1412C= (p.Ala471=) c.359C= (p.Ala120=) c.1205C= (p.Ala402=) c.725C= (p.Ala242=) | |
| 12 | g.47987172G>T | CA384554061 | COL2A1 | c.1064C>A (p.Ala355Asp) c.1271C>A (p.Ala424Asp) n.195C>A c.1415C>A (p.Ala472Asp) c.1412C>A (p.Ala471Asp) c.359C>A (p.Ala120Asp) c.1205C>A (p.Ala402Asp) c.725C>A (p.Ala242Asp) | |
| 12 | g.47987173C>A | CA384554064 | COL2A1 | c.1063G>T (p.Ala355Ser) c.1270G>T (p.Ala424Ser) n.194G>T c.1414G>T (p.Ala472Ser) c.1411G>T (p.Ala471Ser) c.358G>T (p.Ala120Ser) c.1204G>T (p.Ala402Ser) c.724G>T (p.Ala242Ser) | |
| 12 | g.47987173C>G | CA384554065 | COL2A1 | c.1063G>C (p.Ala355Pro) c.1270G>C (p.Ala424Pro) n.194G>C c.1414G>C (p.Ala472Pro) c.1411G>C (p.Ala471Pro) c.358G>C (p.Ala120Pro) c.1204G>C (p.Ala402Pro) c.724G>C (p.Ala242Pro) | |
| 12 | g.47987173C>T | CA384554067 | COL2A1 | c.1063G>A (p.Ala355Thr) c.1270G>A (p.Ala424Thr) n.194G>A c.1414G>A (p.Ala472Thr) c.1411G>A (p.Ala471Thr) c.358G>A (p.Ala120Thr) c.1204G>A (p.Ala402Thr) c.724G>A (p.Ala242Thr) | gnomAD v4 |
| 12 | g.47987174A>C | CA479473886 | COL2A1 | c.1062T>G (p.Gly354=) c.1269T>G (p.Gly423=) n.193T>G c.1413T>G (p.Gly471=) c.1410T>G (p.Gly470=) c.357T>G (p.Gly119=) c.1203T>G (p.Gly401=) c.723T>G (p.Gly241=) | |
| 12 | g.47987174A>G | CA479473887 | COL2A1 | c.1062T>C (p.Gly354=) c.1269T>C (p.Gly423=) n.193T>C c.1413T>C (p.Gly471=) c.1410T>C (p.Gly470=) c.357T>C (p.Gly119=) c.1203T>C (p.Gly401=) c.723T>C (p.Gly241=) | |
| 12 | g.47987174A>T | CA479473889 | COL2A1 | c.1062T>A (p.Gly354=) c.1269T>A (p.Gly423=) n.193T>A c.1413T>A (p.Gly471=) c.1410T>A (p.Gly470=) c.357T>A (p.Gly119=) c.1203T>A (p.Gly401=) c.723T>A (p.Gly241=) | |
| 12 | g.47987174_47987178del | CA2580085526 | COL2A1 | c.1060-2_1062del c.1267-2_1269del n.191-2_193del c.1411-2_1413del c.1408-2_1410del c.355-2_357del c.1201-2_1203del c.721-2_723del | ClinVar dbSNP |
| 12 | g.47987175C>A | CA384554071 | COL2A1 | c.1061G>T (p.Gly354Val) c.1268G>T (p.Gly423Val) n.192G>T c.1412G>T (p.Gly471Val) c.1409G>T (p.Gly470Val) c.356G>T (p.Gly119Val) c.1202G>T (p.Gly401Val) c.722G>T (p.Gly241Val) | |
| 12 | g.47987175C= | CA2034458553 | COL2A1 | c.1061G= (p.Gly354=) c.1268G= (p.Gly423=) n.192G= c.1412G= (p.Gly471=) c.1409G= (p.Gly470=) c.356G= (p.Gly119=) c.1202G= (p.Gly401=) c.722G= (p.Gly241=) | |
| 12 | g.47987175C>G | CA384554073 | COL2A1 | c.1061G>C (p.Gly354Ala) c.1268G>C (p.Gly423Ala) n.192G>C c.1412G>C (p.Gly471Ala) c.1409G>C (p.Gly470Ala) c.356G>C (p.Gly119Ala) c.1202G>C (p.Gly401Ala) c.722G>C (p.Gly241Ala) | |
| 12 | g.47987175C>T | CA384554070 | COL2A1 | c.1061G>A (p.Gly354Asp) c.1268G>A (p.Gly423Asp) n.192G>A c.1412G>A (p.Gly471Asp) c.1409G>A (p.Gly470Asp) c.356G>A (p.Gly119Asp) c.1202G>A (p.Gly401Asp) c.722G>A (p.Gly241Asp) | ClinVar dbSNP |
| 12 | g.47987176_47987177del | CA2697559224 | COL2A1 | c.1060_1061del c.1267_1268del n.191_192del c.1411_1412del c.1408_1409del c.355_356del c.1201_1202del c.721_722del | ClinVar |
| 12 | g.47987176C>A | CA384554076 | COL2A1 | c.1060G>T (p.Gly354Cys) c.1267G>T (p.Gly423Cys) n.191G>T c.1411G>T (p.Gly471Cys) c.1408G>T (p.Gly470Cys) c.355G>T (p.Gly119Cys) c.1201G>T (p.Gly401Cys) c.721G>T (p.Gly241Cys) | |
| 12 | g.47987176C>G | CA384554077 | COL2A1 | c.1060G>C (p.Gly354Arg) c.1267G>C (p.Gly423Arg) n.191G>C c.1411G>C (p.Gly471Arg) c.1408G>C (p.Gly470Arg) c.355G>C (p.Gly119Arg) c.1201G>C (p.Gly401Arg) c.721G>C (p.Gly241Arg) | |
| 12 | g.47987176C>T | CA384554079 | COL2A1 | c.1060G>A (p.Gly354Ser) c.1267G>A (p.Gly423Ser) n.191G>A c.1411G>A (p.Gly471Ser) c.1408G>A (p.Gly470Ser) c.355G>A (p.Gly119Ser) c.1201G>A (p.Gly401Ser) c.721G>A (p.Gly241Ser) | ClinVar |
| 12 | g.47987177C>A | CA384554081 | COL2A1 | c.1060-1G>T (n.1060-1G>T) c.1267-1G>T (n.1267-1G>T) n.191-1G>T c.1411-1G>T (n.1411-1G>T) c.1408-1G>T (n.1408-1G>T) c.355-1G>T (n.355-1G>T) c.1201-1G>T (n.1201-1G>T) c.721-1G>T (n.721-1G>T) | |
| 12 | g.47987177C>G | CA384554083 | COL2A1 | c.1060-1G>C (n.1060-1G>C) c.1267-1G>C (n.1267-1G>C) n.191-1G>C c.1411-1G>C (n.1411-1G>C) c.1408-1G>C (n.1408-1G>C) c.355-1G>C (n.355-1G>C) c.1201-1G>C (n.1201-1G>C) c.721-1G>C (n.721-1G>C) | |
| 12 | g.47987177C>T | CA384554085 | COL2A1 | c.1060-1G>A (n.1060-1G>A) c.1267-1G>A (n.1267-1G>A) n.191-1G>A c.1411-1G>A (n.1411-1G>A) c.1408-1G>A (n.1408-1G>A) c.355-1G>A (n.355-1G>A) c.1201-1G>A (n.1201-1G>A) c.721-1G>A (n.721-1G>A) | COSMIC COSMIC |
| 12 | g.47987178T>A | CA384554087 | COL2A1 | c.1060-2A>T (n.1060-2A>T) c.1267-2A>T (n.1267-2A>T) n.191-2A>T c.1411-2A>T (n.1411-2A>T) c.1408-2A>T (n.1408-2A>T) c.355-2A>T (n.355-2A>T) c.1201-2A>T (n.1201-2A>T) c.721-2A>T (n.721-2A>T) | |
| 12 | g.47987178T>C | CA384554088 | COL2A1 | c.1060-2A>G (n.1060-2A>G) c.1267-2A>G (n.1267-2A>G) n.191-2A>G c.1411-2A>G (n.1411-2A>G) c.1408-2A>G (n.1408-2A>G) c.355-2A>G (n.355-2A>G) c.1201-2A>G (n.1201-2A>G) c.721-2A>G (n.721-2A>G) | ClinVar dbSNP |
| 12 | g.47987178T>G | CA384554090 | COL2A1 | c.1060-2A>C (n.1060-2A>C) c.1267-2A>C (n.1267-2A>C) n.191-2A>C c.1411-2A>C (n.1411-2A>C) c.1408-2A>C (n.1408-2A>C) c.355-2A>C (n.355-2A>C) c.1201-2A>C (n.1201-2A>C) c.721-2A>C (n.721-2A>C) | |
| 12 | g.47987178T= | CA2034458557 | COL2A1 | c.1060-2A= (n.1060-2A=) c.1267-2A= (n.1267-2A=) n.191-2A= c.1411-2A= (n.1411-2A=) c.1408-2A= (n.1408-2A=) c.355-2A= (n.355-2A=) c.1201-2A= (n.1201-2A=) c.721-2A= (n.721-2A=) | |
| 12 | g.47987179dup | CA2034458563 | COL2A1 | c.1060-3dup (n.1060-3dup) c.1267-3dup (n.1267-3dup) n.191-3dup c.1411-3dup (n.1411-3dup) c.1408-3dup (n.1408-3dup) c.355-3dup (n.355-3dup) c.1201-3dup (n.1201-3dup) c.721-3dup (n.721-3dup) | dbSNP |
| 12 | g.47987180T>G | CA6535527 | COL2A1 | c.1060-4A>C (n.1060-4A>C) c.1267-4A>C (n.1267-4A>C) n.191-4A>C c.1411-4A>C (n.1411-4A>C) c.1408-4A>C (n.1408-4A>C) c.355-4A>C (n.355-4A>C) c.1201-4A>C (n.1201-4A>C) c.721-4A>C (n.721-4A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47987180T= | CA2034458566 | COL2A1 | c.1060-4A= (n.1060-4A=) c.1267-4A= (n.1267-4A=) n.191-4A= c.1411-4A= (n.1411-4A=) c.1408-4A= (n.1408-4A=) c.355-4A= (n.355-4A=) c.1201-4A= (n.1201-4A=) c.721-4A= (n.721-4A=) | |
| 12 | g.47987182G>A | CA2618504247 | COL2A1 | c.1060-6C>T (n.1060-6C>T) c.1267-6C>T (n.1267-6C>T) n.191-6C>T c.1411-6C>T (n.1411-6C>T) c.1408-6C>T (n.1408-6C>T) c.355-6C>T (n.355-6C>T) c.1201-6C>T (n.1201-6C>T) c.721-6C>T (n.721-6C>T) | gnomAD v4 |
| 12 | g.47987183G>A | CA689445729 | COL2A1 | c.1060-7C>T (n.1060-7C>T) c.1267-7C>T (n.1267-7C>T) n.191-7C>T c.1411-7C>T (n.1411-7C>T) c.1408-7C>T (n.1408-7C>T) c.355-7C>T (n.355-7C>T) c.1201-7C>T (n.1201-7C>T) c.721-7C>T (n.721-7C>T) | dbSNP |
| 12 | g.47987183G= | CA2034458574 | COL2A1 | c.1060-7C= (n.1060-7C=) c.1267-7C= (n.1267-7C=) n.191-7C= c.1411-7C= (n.1411-7C=) c.1408-7C= (n.1408-7C=) c.355-7C= (n.355-7C=) c.1201-7C= (n.1201-7C=) c.721-7C= (n.721-7C=) | |
| 12 | g.47987184C>G | CA2618504300 | COL2A1 | c.1060-8G>C (n.1060-8G>C) c.1267-8G>C (n.1267-8G>C) n.191-8G>C c.1411-8G>C (n.1411-8G>C) c.1408-8G>C (n.1408-8G>C) c.355-8G>C (n.355-8G>C) c.1201-8G>C (n.1201-8G>C) c.721-8G>C (n.721-8G>C) | gnomAD v4 |