| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47983552_47986872del | CA658797886 | COL2A1 | c.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 |
| 12 | g.47985759del | CA2575138138 | COL2A1 | c.1442del (p.Arg481LeufsTer?) c.1649del (p.Arg550LeufsTer?) n.573del c.1793del (p.Arg598LeufsTer?) c.1790del (p.Arg597LeufsTer?) c.737del (p.Arg246LeufsTer?) c.1583del (p.Arg528LeufsTer?) c.1103del (p.Arg368LeufsTer?) | |
| 12 | g.47985759C>A | CA6535432 | COL2A1 | c.1442G>T (p.Arg481Leu) c.1649G>T (p.Arg550Leu) n.573G>T c.1793G>T (p.Arg598Leu) c.1790G>T (p.Arg597Leu) c.737G>T (p.Arg246Leu) c.1583G>T (p.Arg528Leu) c.1103G>T (p.Arg368Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985759C= | CA2034455801 | COL2A1 | c.1442G= (p.Arg481=) c.1649G= (p.Arg550=) n.573G= c.1793G= (p.Arg598=) c.1790G= (p.Arg597=) c.737G= (p.Arg246=) c.1583G= (p.Arg528=) c.1103G= (p.Arg368=) | |
| 12 | g.47985759C>G | CA384551496 | COL2A1 | c.1442G>C (p.Arg481Pro) c.1649G>C (p.Arg550Pro) n.573G>C c.1793G>C (p.Arg598Pro) c.1790G>C (p.Arg597Pro) c.737G>C (p.Arg246Pro) c.1583G>C (p.Arg528Pro) c.1103G>C (p.Arg368Pro) | |
| 12 | g.47985759C>T | CA384551498 | COL2A1 | c.1442G>A (p.Arg481His) c.1649G>A (p.Arg550His) n.573G>A c.1793G>A (p.Arg598His) c.1790G>A (p.Arg597His) c.737G>A (p.Arg246His) c.1583G>A (p.Arg528His) c.1103G>A (p.Arg368His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985760G>A | CA384551500 | COL2A1 | c.1441C>T (p.Arg481Cys) c.1648C>T (p.Arg550Cys) n.572C>T c.1792C>T (p.Arg598Cys) c.1789C>T (p.Arg597Cys) c.736C>T (p.Arg246Cys) c.1582C>T (p.Arg528Cys) c.1102C>T (p.Arg368Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47985760G>C | CA384551502 | COL2A1 | c.1441C>G (p.Arg481Gly) c.1648C>G (p.Arg550Gly) n.572C>G c.1792C>G (p.Arg598Gly) c.1789C>G (p.Arg597Gly) c.736C>G (p.Arg246Gly) c.1582C>G (p.Arg528Gly) c.1102C>G (p.Arg368Gly) | |
| 12 | g.47985760G= | CA2034455805 | COL2A1 | c.1441C= (p.Arg481=) c.1648C= (p.Arg550=) n.572C= c.1792C= (p.Arg598=) c.1789C= (p.Arg597=) c.736C= (p.Arg246=) c.1582C= (p.Arg528=) c.1102C= (p.Arg368=) | |
| 12 | g.47985760G>T | CA384551508 | COL2A1 | c.1441C>A (p.Arg481Ser) c.1648C>A (p.Arg550Ser) n.572C>A c.1792C>A (p.Arg598Ser) c.1789C>A (p.Arg597Ser) c.736C>A (p.Arg246Ser) c.1582C>A (p.Arg528Ser) c.1102C>A (p.Arg368Ser) | |
| 12 | g.47985761G>A | CA479468881 | COL2A1 | c.1440C>T (p.Gly480=) c.1647C>T (p.Gly549=) n.571C>T c.1791C>T (p.Gly597=) c.1788C>T (p.Gly596=) c.735C>T (p.Gly245=) c.1581C>T (p.Gly527=) c.1101C>T (p.Gly367=) | |
| 12 | g.47985761G>C | CA479468883 | COL2A1 | c.1440C>G (p.Gly480=) c.1647C>G (p.Gly549=) n.571C>G c.1791C>G (p.Gly597=) c.1788C>G (p.Gly596=) c.735C>G (p.Gly245=) c.1581C>G (p.Gly527=) c.1101C>G (p.Gly367=) | |
| 12 | g.47985761G= | CA2034455812 | COL2A1 | c.1440C= (p.Gly480=) c.1647C= (p.Gly549=) n.571C= c.1791C= (p.Gly597=) c.1788C= (p.Gly596=) c.735C= (p.Gly245=) c.1581C= (p.Gly527=) c.1101C= (p.Gly367=) | |
| 12 | g.47985761G>T | CA479468885 | COL2A1 | c.1440C>A (p.Gly480=) c.1647C>A (p.Gly549=) n.571C>A c.1791C>A (p.Gly597=) c.1788C>A (p.Gly596=) c.735C>A (p.Gly245=) c.1581C>A (p.Gly527=) c.1101C>A (p.Gly367=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47985762C>A | CA384551511 | COL2A1 | c.1439G>T (p.Gly480Val) c.1646G>T (p.Gly549Val) n.570G>T c.1790G>T (p.Gly597Val) c.1787G>T (p.Gly596Val) c.734G>T (p.Gly245Val) c.1580G>T (p.Gly527Val) c.1100G>T (p.Gly367Val) | |
| 12 | g.47985762C>G | CA384551514 | COL2A1 | c.1439G>C (p.Gly480Ala) c.1646G>C (p.Gly549Ala) n.570G>C c.1790G>C (p.Gly597Ala) c.1787G>C (p.Gly596Ala) c.734G>C (p.Gly245Ala) c.1580G>C (p.Gly527Ala) c.1100G>C (p.Gly367Ala) | |
| 12 | g.47985762C>T | CA384551516 | COL2A1 | c.1439G>A (p.Gly480Asp) c.1646G>A (p.Gly549Asp) n.570G>A c.1790G>A (p.Gly597Asp) c.1787G>A (p.Gly596Asp) c.734G>A (p.Gly245Asp) c.1580G>A (p.Gly527Asp) c.1100G>A (p.Gly367Asp) | ClinVar dbSNP |
| 12 | g.47985763C>A | CA384551522 | COL2A1 | c.1438G>T (p.Gly480Cys) c.1645G>T (p.Gly549Cys) n.569G>T c.1789G>T (p.Gly597Cys) c.1786G>T (p.Gly596Cys) c.733G>T (p.Gly245Cys) c.1579G>T (p.Gly527Cys) c.1099G>T (p.Gly367Cys) | |
| 12 | g.47985763C= | CA2034455815 | COL2A1 | c.1438G= (p.Gly480=) c.1645G= (p.Gly549=) n.569G= c.1789G= (p.Gly597=) c.1786G= (p.Gly596=) c.733G= (p.Gly245=) c.1579G= (p.Gly527=) c.1099G= (p.Gly367=) | |
| 12 | g.47985763C>G | CA384551524 | COL2A1 | c.1438G>C (p.Gly480Arg) c.1645G>C (p.Gly549Arg) n.569G>C c.1789G>C (p.Gly597Arg) c.1786G>C (p.Gly596Arg) c.733G>C (p.Gly245Arg) c.1579G>C (p.Gly527Arg) c.1099G>C (p.Gly367Arg) | |
| 12 | g.47985763C>T | CA236527459 | COL2A1 | c.1438G>A (p.Gly480Ser) c.1645G>A (p.Gly549Ser) n.569G>A c.1789G>A (p.Gly597Ser) c.1786G>A (p.Gly596Ser) c.733G>A (p.Gly245Ser) c.1579G>A (p.Gly527Ser) c.1099G>A (p.Gly367Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47985764A= | CA2034455822 | COL2A1 | c.1437T= (p.Pro479=) c.1644T= (p.Pro548=) n.568T= c.1788T= (p.Pro596=) c.1785T= (p.Pro595=) c.732T= (p.Pro244=) c.1578T= (p.Pro526=) c.1098T= (p.Pro366=) | |
| 12 | g.47985764A>C | CA479468899 | COL2A1 | c.1437T>G (p.Pro479=) c.1644T>G (p.Pro548=) n.568T>G c.1788T>G (p.Pro596=) c.1785T>G (p.Pro595=) c.732T>G (p.Pro244=) c.1578T>G (p.Pro526=) c.1098T>G (p.Pro366=) | |
| 12 | g.47985764A>G | CA479468897 | COL2A1 | c.1437T>C (p.Pro479=) c.1644T>C (p.Pro548=) n.568T>C c.1788T>C (p.Pro596=) c.1785T>C (p.Pro595=) c.732T>C (p.Pro244=) c.1578T>C (p.Pro526=) c.1098T>C (p.Pro366=) | dbSNP |
| 12 | g.47985764A>T | CA479468895 | COL2A1 | c.1437T>A (p.Pro479=) c.1644T>A (p.Pro548=) n.568T>A c.1788T>A (p.Pro596=) c.1785T>A (p.Pro595=) c.732T>A (p.Pro244=) c.1578T>A (p.Pro526=) c.1098T>A (p.Pro366=) | |
| 12 | g.47985765G>A | CA384551529 | COL2A1 | c.1436C>T (p.Pro479Leu) c.1643C>T (p.Pro548Leu) n.567C>T c.1787C>T (p.Pro596Leu) c.1784C>T (p.Pro595Leu) c.731C>T (p.Pro244Leu) c.1577C>T (p.Pro526Leu) c.1097C>T (p.Pro366Leu) | |
| 12 | g.47985765G>C | CA384551532 | COL2A1 | c.1436C>G (p.Pro479Arg) c.1643C>G (p.Pro548Arg) n.567C>G c.1787C>G (p.Pro596Arg) c.1784C>G (p.Pro595Arg) c.731C>G (p.Pro244Arg) c.1577C>G (p.Pro526Arg) c.1097C>G (p.Pro366Arg) | |
| 12 | g.47985765G>T | CA384551531 | COL2A1 | c.1436C>A (p.Pro479His) c.1643C>A (p.Pro548His) n.567C>A c.1787C>A (p.Pro596His) c.1784C>A (p.Pro595His) c.731C>A (p.Pro244His) c.1577C>A (p.Pro526His) c.1097C>A (p.Pro366His) | |
| 12 | g.47985767del | CA2697559219 | COL2A1 | c.1436del (p.Pro479LeufsTer?) c.1643del (p.Pro548LeufsTer?) n.567del c.1787del (p.Pro596LeufsTer?) c.1784del (p.Pro595LeufsTer?) c.731del (p.Pro244LeufsTer?) c.1577del (p.Pro526LeufsTer?) c.1097del (p.Pro366LeufsTer?) | ClinVar |
| 12 | g.47985766G>A | CA384551533 | COL2A1 | c.1435C>T (p.Pro479Ser) c.1642C>T (p.Pro548Ser) n.566C>T c.1786C>T (p.Pro596Ser) c.1783C>T (p.Pro595Ser) c.730C>T (p.Pro244Ser) c.1576C>T (p.Pro526Ser) c.1096C>T (p.Pro366Ser) | |
| 12 | g.47985766G>C | CA384551535 | COL2A1 | c.1435C>G (p.Pro479Ala) c.1642C>G (p.Pro548Ala) n.566C>G c.1786C>G (p.Pro596Ala) c.1783C>G (p.Pro595Ala) c.730C>G (p.Pro244Ala) c.1576C>G (p.Pro526Ala) c.1096C>G (p.Pro366Ala) | |
| 12 | g.47985766G>T | CA384551534 | COL2A1 | c.1435C>A (p.Pro479Thr) c.1642C>A (p.Pro548Thr) n.566C>A c.1786C>A (p.Pro596Thr) c.1783C>A (p.Pro595Thr) c.730C>A (p.Pro244Thr) c.1576C>A (p.Pro526Thr) c.1096C>A (p.Pro366Thr) | |
| 12 | g.47985767G>A | CA479468910 | COL2A1 | c.1434C>T (p.Asp478=) c.1641C>T (p.Asp547=) n.565C>T c.1785C>T (p.Asp595=) c.1782C>T (p.Asp594=) c.729C>T (p.Asp243=) c.1575C>T (p.Asp525=) c.1095C>T (p.Asp365=) | |
| 12 | g.47985767G>C | CA384551536 | COL2A1 | c.1434C>G (p.Asp478Glu) c.1641C>G (p.Asp547Glu) n.565C>G c.1785C>G (p.Asp595Glu) c.1782C>G (p.Asp594Glu) c.729C>G (p.Asp243Glu) c.1575C>G (p.Asp525Glu) c.1095C>G (p.Asp365Glu) | |
| 12 | g.47985767G>T | CA384551537 | COL2A1 | c.1434C>A (p.Asp478Glu) c.1641C>A (p.Asp547Glu) n.565C>A c.1785C>A (p.Asp595Glu) c.1782C>A (p.Asp594Glu) c.729C>A (p.Asp243Glu) c.1575C>A (p.Asp525Glu) c.1095C>A (p.Asp365Glu) | |
| 12 | g.47985768T>A | CA384551538 | COL2A1 | c.1433A>T (p.Asp478Val) c.1640A>T (p.Asp547Val) n.564A>T c.1784A>T (p.Asp595Val) c.1781A>T (p.Asp594Val) c.728A>T (p.Asp243Val) c.1574A>T (p.Asp525Val) c.1094A>T (p.Asp365Val) | |
| 12 | g.47985768T>C | CA384551539 | COL2A1 | c.1433A>G (p.Asp478Gly) c.1640A>G (p.Asp547Gly) n.564A>G c.1784A>G (p.Asp595Gly) c.1781A>G (p.Asp594Gly) c.728A>G (p.Asp243Gly) c.1574A>G (p.Asp525Gly) c.1094A>G (p.Asp365Gly) | |
| 12 | g.47985768T>G | CA384551541 | COL2A1 | c.1433A>C (p.Asp478Ala) c.1640A>C (p.Asp547Ala) n.564A>C c.1784A>C (p.Asp595Ala) c.1781A>C (p.Asp594Ala) c.728A>C (p.Asp243Ala) c.1574A>C (p.Asp525Ala) c.1094A>C (p.Asp365Ala) | |
| 12 | g.47985769C>A | CA384551544 | COL2A1 | c.1432G>T (p.Asp478Tyr) c.1639G>T (p.Asp547Tyr) n.563G>T c.1783G>T (p.Asp595Tyr) c.1780G>T (p.Asp594Tyr) c.727G>T (p.Asp243Tyr) c.1573G>T (p.Asp525Tyr) c.1093G>T (p.Asp365Tyr) | |
| 12 | g.47985769C= | CA2034455826 | COL2A1 | c.1432G= (p.Asp478=) c.1639G= (p.Asp547=) n.563G= c.1783G= (p.Asp595=) c.1780G= (p.Asp594=) c.727G= (p.Asp243=) c.1573G= (p.Asp525=) c.1093G= (p.Asp365=) | |
| 12 | g.47985769C>G | CA384551545 | COL2A1 | c.1432G>C (p.Asp478His) c.1639G>C (p.Asp547His) n.563G>C c.1783G>C (p.Asp595His) c.1780G>C (p.Asp594His) c.727G>C (p.Asp243His) c.1573G>C (p.Asp525His) c.1093G>C (p.Asp365His) | |
| 12 | g.47985769C>T | CA384551547 | COL2A1 | c.1432G>A (p.Asp478Asn) c.1639G>A (p.Asp547Asn) n.563G>A c.1783G>A (p.Asp595Asn) c.1780G>A (p.Asp594Asn) c.727G>A (p.Asp243Asn) c.1573G>A (p.Asp525Asn) c.1093G>A (p.Asp365Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47985770A>C | CA479468925 | COL2A1 | c.1431T>G (p.Gly477=) c.1638T>G (p.Gly546=) n.562T>G c.1782T>G (p.Gly594=) c.1779T>G (p.Gly593=) c.726T>G (p.Gly242=) c.1572T>G (p.Gly524=) c.1092T>G (p.Gly364=) | |
| 12 | g.47985770A>G | CA479468926 | COL2A1 | c.1431T>C (p.Gly477=) c.1638T>C (p.Gly546=) n.562T>C c.1782T>C (p.Gly594=) c.1779T>C (p.Gly593=) c.726T>C (p.Gly242=) c.1572T>C (p.Gly524=) c.1092T>C (p.Gly364=) | |
| 12 | g.47985770A>T | CA479468928 | COL2A1 | c.1431T>A (p.Gly477=) c.1638T>A (p.Gly546=) n.562T>A c.1782T>A (p.Gly594=) c.1779T>A (p.Gly593=) c.726T>A (p.Gly242=) c.1572T>A (p.Gly524=) c.1092T>A (p.Gly364=) | |
| 12 | g.47985771C>A | CA250704 | COL2A1 | c.1430G>T (p.Gly477Val) c.1637G>T (p.Gly546Val) n.561G>T c.1781G>T (p.Gly594Val) c.1778G>T (p.Gly593Val) c.725G>T (p.Gly242Val) c.1571G>T (p.Gly524Val) c.1091G>T (p.Gly364Val) | ClinVar dbSNP |
| 12 | g.47985771C= | CA2034455835 | COL2A1 | c.1430G= (p.Gly477=) c.1637G= (p.Gly546=) n.561G= c.1781G= (p.Gly594=) c.1778G= (p.Gly593=) c.725G= (p.Gly242=) c.1571G= (p.Gly524=) c.1091G= (p.Gly364=) | |
| 12 | g.47985771C>G | CA384551550 | COL2A1 | c.1430G>C (p.Gly477Ala) c.1637G>C (p.Gly546Ala) n.561G>C c.1781G>C (p.Gly594Ala) c.1778G>C (p.Gly593Ala) c.725G>C (p.Gly242Ala) c.1571G>C (p.Gly524Ala) c.1091G>C (p.Gly364Ala) | |
| 12 | g.47985771C>T | CA384551552 | COL2A1 | c.1430G>A (p.Gly477Asp) c.1637G>A (p.Gly546Asp) n.561G>A c.1781G>A (p.Gly594Asp) c.1778G>A (p.Gly593Asp) c.725G>A (p.Gly242Asp) c.1571G>A (p.Gly524Asp) c.1091G>A (p.Gly364Asp) | |
| 12 | g.47985772C>A | CA384551554 | COL2A1 | c.1429G>T (p.Gly477Cys) c.1636G>T (p.Gly546Cys) n.560G>T c.1780G>T (p.Gly594Cys) c.1777G>T (p.Gly593Cys) c.724G>T (p.Gly242Cys) c.1570G>T (p.Gly524Cys) c.1090G>T (p.Gly364Cys) |