| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116120318A= | CA1657093282 | COL10A1,NT5DC1 | c.529+2373A= (n.529+2373A=) c.1798T= (p.Ser600=) c.27+2373A= | |
| 6 | g.116120318A>C | CA365386827 | COL10A1,NT5DC1 | c.529+2373A>C (n.529+2373A>C) c.1798T>G (p.Ser600Ala) c.27+2373A>C | |
| 6 | g.116120318A>G | CA127225 | COL10A1,NT5DC1 | c.529+2373A>G (n.529+2373A>G) c.1798T>C (p.Ser600Pro) c.27+2373A>G | ClinVar dbSNP |
| 6 | g.116120318A>T | CA365386828 | COL10A1,NT5DC1 | c.529+2373A>T (n.529+2373A>T) c.1798T>A (p.Ser600Thr) c.27+2373A>T | |
| 6 | g.116120319A>C | CA365386829 | COL10A1,NT5DC1 | c.529+2374A>C (n.529+2374A>C) c.1797T>G (p.Phe599Leu) c.27+2374A>C | |
| 6 | g.116120319A>G | CA451899454 | COL10A1,NT5DC1 | c.529+2374A>G (n.529+2374A>G) c.1797T>C (p.Phe599=) c.27+2374A>G | |
| 6 | g.116120319A>T | CA365386830 | COL10A1,NT5DC1 | c.529+2374A>T (n.529+2374A>T) c.1797T>A (p.Phe599Leu) c.27+2374A>T | |
| 6 | g.116120320A= | CA1657093283 | COL10A1,NT5DC1 | c.529+2375A= (n.529+2375A=) c.1796T= (p.Phe599=) c.27+2375A= | |
| 6 | g.116120320A>C | CA365386831 | COL10A1,NT5DC1 | c.529+2375A>C (n.529+2375A>C) c.1796T>G (p.Phe599Cys) c.27+2375A>C | |
| 6 | g.116120320A>G | CA365386832 | COL10A1,NT5DC1 | c.529+2375A>G (n.529+2375A>G) c.1796T>C (p.Phe599Ser) c.27+2375A>G | ClinVar dbSNP |
| 6 | g.116120320A>T | CA365386833 | COL10A1,NT5DC1 | c.529+2375A>T (n.529+2375A>T) c.1796T>A (p.Phe599Tyr) c.27+2375A>T | |
| 6 | g.116120321A>C | CA365386834 | COL10A1,NT5DC1 | c.529+2376A>C (n.529+2376A>C) c.1795T>G (p.Phe599Val) c.27+2376A>C | |
| 6 | g.116120321A>G | CA365386835 | COL10A1,NT5DC1 | c.529+2376A>G (n.529+2376A>G) c.1795T>C (p.Phe599Leu) c.27+2376A>G | |
| 6 | g.116120321A>T | CA365386837 | COL10A1,NT5DC1 | c.529+2376A>T (n.529+2376A>T) c.1795T>A (p.Phe599Ile) c.27+2376A>T | |
| 6 | g.116120321_116120322insTAGT | CA2695206896 | COL10A1,NT5DC1 | c.529+2376_529+2377insTAGT (n.529+2376_529+2377insTAGT) c.1794_1795insACTA (p.Phe599ThrfsTer19) c.27+2376_27+2377insTAGT | |
| 6 | g.116120322A>C | CA365386838 | COL10A1,NT5DC1 | c.529+2377A>C (n.529+2377A>C) c.1794T>G (p.Tyr598Ter) c.27+2377A>C | |
| 6 | g.116120322A>G | CA451899456 | COL10A1,NT5DC1 | c.529+2377A>G (n.529+2377A>G) c.1794T>C (p.Tyr598=) c.27+2377A>G | |
| 6 | g.116120322A>T | CA365386840 | COL10A1,NT5DC1 | c.529+2377A>T (n.529+2377A>T) c.1794T>A (p.Tyr598Ter) c.27+2377A>T | |
| 6 | g.116120323T>A | CA365386842 | COL10A1,NT5DC1 | c.529+2378T>A (n.529+2378T>A) c.1793A>T (p.Tyr598Phe) c.27+2378T>A | |
| 6 | g.116120323T>C | CA365386843 | COL10A1,NT5DC1 | c.529+2378T>C (n.529+2378T>C) c.1793A>G (p.Tyr598Cys) c.27+2378T>C | |
| 6 | g.116120323T>G | CA365386844 | COL10A1,NT5DC1 | c.529+2378T>G (n.529+2378T>G) c.1793A>C (p.Tyr598Ser) c.27+2378T>G | |
| 6 | g.116120324A= | CA1657093284 | COL10A1,NT5DC1 | c.529+2379A= (n.529+2379A=) c.1792T= (p.Tyr598=) c.27+2379A= | |
| 6 | g.116120324A>C | CA127210 | COL10A1,NT5DC1 | c.529+2379A>C (n.529+2379A>C) c.1792T>G (p.Tyr598Asp) c.27+2379A>C | ClinVar dbSNP |
| 6 | g.116120324A>G | CA365386845 | COL10A1,NT5DC1 | c.529+2379A>G (n.529+2379A>G) c.1792T>C (p.Tyr598His) c.27+2379A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120324A>T | CA365386846 | COL10A1,NT5DC1 | c.529+2379A>T (n.529+2379A>T) c.1792T>A (p.Tyr598Asn) c.27+2379A>T | |
| 6 | g.116120325G>A | CA451899457 | COL10A1,NT5DC1 | c.529+2380G>A (n.529+2380G>A) c.1791C>T (p.Tyr597=) c.27+2380G>A | |
| 6 | g.116120325G>C | CA365386848 | COL10A1,NT5DC1 | c.529+2380G>C (n.529+2380G>C) c.1791C>G (p.Tyr597Ter) c.27+2380G>C | dbSNP |
| 6 | g.116120325G= | CA1657093285 | COL10A1,NT5DC1 | c.529+2380G= (n.529+2380G=) c.1791C= (p.Tyr597=) c.27+2380G= | |
| 6 | g.116120325G>T | CA365386847 | COL10A1,NT5DC1 | c.529+2380G>T (n.529+2380G>T) c.1791C>A (p.Tyr597Ter) c.27+2380G>T | |
| 6 | g.116120326T>A | CA365386849 | COL10A1,NT5DC1 | c.529+2381T>A (n.529+2381T>A) c.1790A>T (p.Tyr597Phe) c.27+2381T>A | ClinVar dbSNP |
| 6 | g.116120326T>C | CA127224 | COL10A1,NT5DC1 | c.529+2381T>C (n.529+2381T>C) c.1790A>G (p.Tyr597Cys) c.27+2381T>C | ClinVar dbSNP |
| 6 | g.116120326T>G | CA365386850 | COL10A1,NT5DC1 | c.529+2381T>G (n.529+2381T>G) c.1790A>C (p.Tyr597Ser) c.27+2381T>G | |
| 6 | g.116120326T= | CA1657093286 | COL10A1,NT5DC1 | c.529+2381T= (n.529+2381T=) c.1790A= (p.Tyr597=) c.27+2381T= | |
| 6 | g.116120327A>C | CA365386852 | COL10A1,NT5DC1 | c.529+2382A>C (n.529+2382A>C) c.1789T>G (p.Tyr597Asp) c.27+2382A>C | |
| 6 | g.116120327A>G | CA365386853 | COL10A1,NT5DC1 | c.529+2382A>G (n.529+2382A>G) c.1789T>C (p.Tyr597His) c.27+2382A>G | ClinVar |
| 6 | g.116120327A>T | CA365386855 | COL10A1,NT5DC1 | c.529+2382A>T (n.529+2382A>T) c.1789T>A (p.Tyr597Asn) c.27+2382A>T | |
| 6 | g.116120328T>A | CA451899461 | COL10A1,NT5DC1 | c.529+2383T>A (n.529+2383T>A) c.1788A>T (p.Ile596=) c.27+2383T>A | |
| 6 | g.116120328T>C | CA365386857 | COL10A1,NT5DC1 | c.529+2383T>C (n.529+2383T>C) c.1788A>G (p.Ile596Met) c.27+2383T>C | gnomAD v4 |
| 6 | g.116120328T>G | CA451899460 | COL10A1,NT5DC1 | c.529+2383T>G (n.529+2383T>G) c.1788A>C (p.Ile596=) c.27+2383T>G | |
| 6 | g.116120329A>C | CA365386859 | COL10A1,NT5DC1 | c.529+2384A>C (n.529+2384A>C) c.1787T>G (p.Ile596Arg) c.27+2384A>C | |
| 6 | g.116120329A>G | CA365386860 | COL10A1,NT5DC1 | c.529+2384A>G (n.529+2384A>G) c.1787T>C (p.Ile596Thr) c.27+2384A>G | gnomAD v4 |
| 6 | g.116120329A>T | CA365386861 | COL10A1,NT5DC1 | c.529+2384A>T (n.529+2384A>T) c.1787T>A (p.Ile596Lys) c.27+2384A>T | |
| 6 | g.116120330T>A | CA365386863 | COL10A1,NT5DC1 | c.529+2385T>A (n.529+2385T>A) c.1786A>T (p.Ile596Leu) c.27+2385T>A | |
| 6 | g.116120330T>C | CA365386865 | COL10A1,NT5DC1 | c.529+2385T>C (n.529+2385T>C) c.1786A>G (p.Ile596Val) c.27+2385T>C | |
| 6 | g.116120330T>G | CA365386866 | COL10A1,NT5DC1 | c.529+2385T>G (n.529+2385T>G) c.1786A>C (p.Ile596Leu) c.27+2385T>G | |
| 6 | g.116120331T>A | CA451899462 | COL10A1,NT5DC1 | c.529+2386T>A (n.529+2386T>A) c.1785A>T (p.Gly595=) c.27+2386T>A | |
| 6 | g.116120331T>C | CA451899463 | COL10A1,NT5DC1 | c.529+2386T>C (n.529+2386T>C) c.1785A>G (p.Gly595=) c.27+2386T>C | |
| 6 | g.116120331T>G | CA451899464 | COL10A1,NT5DC1 | c.529+2386T>G (n.529+2386T>G) c.1785A>C (p.Gly595=) c.27+2386T>G | |
| 6 | g.116120332C>A | CA365386871 | COL10A1,NT5DC1 | c.529+2387C>A (n.529+2387C>A) c.1784G>T (p.Gly595Val) c.27+2387C>A | |
| 6 | g.116120332C= | CA1657093287 | COL10A1,NT5DC1 | c.529+2387C= (n.529+2387C=) c.1784G= (p.Gly595=) c.27+2387C= |