UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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= | |
| 6 | g.116120332C>G | CA365386873 | COL10A1,NT5DC1 | c.529+2387C>G (n.529+2387C>G) c.1784G>C (p.Gly595Ala) c.27+2387C>G | ClinVar |
| 6 | g.116120332C>T | CA127223 | COL10A1,NT5DC1 | c.529+2387C>T (n.529+2387C>T) c.1784G>A (p.Gly595Glu) c.27+2387C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.116120333C>A | CA365386875 | COL10A1,NT5DC1 | c.529+2388C>A (n.529+2388C>A) c.1783G>T (p.Gly595Ter) c.27+2388C>A | gnomAD v4 |
| 6 | g.116120333C>G | CA365386876 | COL10A1,NT5DC1 | c.529+2388C>G (n.529+2388C>G) c.1783G>C (p.Gly595Arg) c.27+2388C>G | |
| 6 | g.116120333C>T | CA365386878 | COL10A1,NT5DC1 | c.529+2388C>T (n.529+2388C>T) c.1783G>A (p.Gly595Arg) c.27+2388C>T | ClinVar dbSNP |
| 6 | g.116120334T>A | CA451899467 | COL10A1,NT5DC1 | c.529+2389T>A (n.529+2389T>A) c.1782A>T (p.Pro594=) c.27+2389T>A | |
| 6 | g.116120334T>C | CA3968115 | COL10A1,NT5DC1 | c.529+2389T>C (n.529+2389T>C) c.1782A>G (p.Pro594=) c.27+2389T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120334T>G | CA451899469 | COL10A1,NT5DC1 | c.529+2389T>G (n.529+2389T>G) c.1782A>C (p.Pro594=) c.27+2389T>G | |
| 6 | g.116120334T= | CA1657093288 | COL10A1,NT5DC1 | c.529+2389T= (n.529+2389T=) c.1782A= (p.Pro594=) c.27+2389T= | |
| 6 | g.116120335G>A | CA365386880 | COL10A1,NT5DC1 | c.529+2390G>A (n.529+2390G>A) c.1781C>T (p.Pro594Leu) c.27+2390G>A | |
| 6 | g.116120335G>C | CA365386884 | COL10A1,NT5DC1 | c.529+2390G>C (n.529+2390G>C) c.1781C>G (p.Pro594Arg) c.27+2390G>C | |
| 6 | g.116120335G>T | CA365386885 | COL10A1,NT5DC1 | c.529+2390G>T (n.529+2390G>T) c.1781C>A (p.Pro594Gln) c.27+2390G>T | |
| 6 | g.116120336G>A | CA365386886 | COL10A1,NT5DC1 | c.529+2391G>A (n.529+2391G>A) c.1780C>T (p.Pro594Ser) c.27+2391G>A | dbSNP |
| 6 | g.116120336G>C | CA365386887 | COL10A1,NT5DC1 | c.529+2391G>C (n.529+2391G>C) c.1780C>G (p.Pro594Ala) c.27+2391G>C | |
| 6 | g.116120336G= | CA1657093289 | COL10A1,NT5DC1 | c.529+2391G= (n.529+2391G=) c.1780C= (p.Pro594=) c.27+2391G= | |
| 6 | g.116120336G>T | CA365386888 | COL10A1,NT5DC1 | c.529+2391G>T (n.529+2391G>T) c.1780C>A (p.Pro594Thr) c.27+2391G>T | COSMIC |
| 6 | g.116120337T>A | CA451899471 | COL10A1,NT5DC1 | c.529+2392T>A (n.529+2392T>A) c.1779A>T (p.Ile593=) c.27+2392T>A | gnomAD v3 gnomAD v4 |
| 6 | g.116120337T>C | CA365386889 | COL10A1,NT5DC1 | c.529+2392T>C (n.529+2392T>C) c.1779A>G (p.Ile593Met) c.27+2392T>C | |
| 6 | g.116120337T>G | CA451899472 | COL10A1,NT5DC1 | c.529+2392T>G (n.529+2392T>G) c.1779A>C (p.Ile593=) c.27+2392T>G | dbSNP |
| 6 | g.116120337T= | CA1657093290 | COL10A1,NT5DC1 | c.529+2392T= (n.529+2392T=) c.1779A= (p.Ile593=) c.27+2392T= | |
| 6 | g.116120338A>C | CA365386894 | COL10A1,NT5DC1 | c.529+2393A>C (n.529+2393A>C) c.1778T>G (p.Ile593Arg) c.27+2393A>C | |
| 6 | g.116120338A>G | CA365386893 | COL10A1,NT5DC1 | c.529+2393A>G (n.529+2393A>G) c.1778T>C (p.Ile593Thr) c.27+2393A>G | |
| 6 | g.116120338A>T | CA365386891 | COL10A1,NT5DC1 | c.529+2393A>T (n.529+2393A>T) c.1778T>A (p.Ile593Lys) c.27+2393A>T | |
| 6 | g.116120339T>A | CA365386896 | COL10A1,NT5DC1 | c.529+2394T>A (n.529+2394T>A) c.1777A>T (p.Ile593Leu) c.27+2394T>A | |
| 6 | g.116120339T>C | CA365386897 | COL10A1,NT5DC1 | c.529+2394T>C (n.529+2394T>C) c.1777A>G (p.Ile593Val) c.27+2394T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120339T>G | CA365386899 | COL10A1,NT5DC1 | c.529+2394T>G (n.529+2394T>G) c.1777A>C (p.Ile593Leu) c.27+2394T>G | |
| 6 | g.116120339T= | CA1657093291 | COL10A1,NT5DC1 | c.529+2394T= (n.529+2394T=) c.1777A= (p.Ile593=) c.27+2394T= | |
| 6 | g.116120340C>A | CA365386901 | COL10A1,NT5DC1 | c.529+2395C>A (n.529+2395C>A) c.1776G>T (p.Gln592His) c.27+2395C>A | |
| 6 | g.116120340C= | CA1657093292 | COL10A1,NT5DC1 | c.529+2395C= (n.529+2395C=) c.1776G= (p.Gln592=) c.27+2395C= | |
| 6 | g.116120340C>G | CA365386902 | COL10A1,NT5DC1 | c.529+2395C>G (n.529+2395C>G) c.1776G>C (p.Gln592His) c.27+2395C>G | |
| 6 | g.116120340C>T | CA145908447 | COL10A1,NT5DC1 | c.529+2395C>T (n.529+2395C>T) c.1776G>A (p.Gln592=) c.27+2395C>T | dbSNP |
| 6 | g.116120341T>A | CA365386903 | COL10A1,NT5DC1 | c.529+2396T>A (n.529+2396T>A) c.1775A>T (p.Gln592Leu) c.27+2396T>A | |
| 6 | g.116120341T>C | CA365386904 | COL10A1,NT5DC1 | c.529+2396T>C (n.529+2396T>C) c.1775A>G (p.Gln592Arg) c.27+2396T>C | dbSNP |
| 6 | g.116120341T>G | CA365386906 | COL10A1,NT5DC1 | c.529+2396T>G (n.529+2396T>G) c.1775A>C (p.Gln592Pro) c.27+2396T>G | |
| 6 | g.116120341dup | CA2573052568 | COL10A1,NT5DC1 | c.529+2396dup (n.529+2396dup) c.1775dup (p.Ile593AspfsTer24) c.27+2396dup | ClinVar dbSNP |
| 6 | g.116120341_116120342insTTACTTGTCA | CA2772728973 | COL10A1,NT5DC1 | c.529+2396_529+2397insTTACTTGTCA (n.529+2396_529+2397insTTACTTGTCA) c.1774_1775insTGACAAGTAA (p.Gln592LeufsTer28) c.27+2396_27+2397insTTACTTGTCA | |
| 6 | g.116120342G>A | CA365386908 | COL10A1,NT5DC1 | c.529+2397G>A (n.529+2397G>A) c.1774C>T (p.Gln592Ter) c.27+2397G>A | |
| 6 | g.116120342G>C | CA365386910 | COL10A1,NT5DC1 | c.529+2397G>C (n.529+2397G>C) c.1774C>G (p.Gln592Glu) c.27+2397G>C | |
| 6 | g.116120342G>T | CA365386911 | COL10A1,NT5DC1 | c.529+2397G>T (n.529+2397G>T) c.1774C>A (p.Gln592Lys) c.27+2397G>T | gnomAD v3 gnomAD v4 |
| 6 | g.116120343A= | CA1657093293 | COL10A1,NT5DC1 | c.529+2398A= (n.529+2398A=) c.1773T= (p.Cys591=) c.27+2398A= | |
| 6 | g.116120343A>C | CA365386912 | COL10A1,NT5DC1 | c.529+2398A>C (n.529+2398A>C) c.1773T>G (p.Cys591Trp) c.27+2398A>C | |
| 6 | g.116120343A>G | CA451899479 | COL10A1,NT5DC1 | c.529+2398A>G (n.529+2398A>G) c.1773T>C (p.Cys591=) c.27+2398A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.116120343A>T | CA365386914 | COL10A1,NT5DC1 | c.529+2398A>T (n.529+2398A>T) c.1773T>A (p.Cys591Ter) c.27+2398A>T | |
| 6 | g.116120343_116120344insTAC | CA2772728975 | COL10A1,NT5DC1 | c.529+2398_529+2399insTAC (n.529+2398_529+2399insTAC) c.1772_1773insGTA (p.Cys591delinsTrpTyr) c.27+2398_27+2399insTAC | |
| 6 | g.116120344C>A | CA365386917 | COL10A1,NT5DC1 | c.529+2399C>A (n.529+2399C>A) c.1772G>T (p.Cys591Phe) c.27+2399C>A | ClinVar dbSNP |
| 6 | g.116120344C>G | CA365386918 | COL10A1,NT5DC1 | c.529+2399C>G (n.529+2399C>G) c.1772G>C (p.Cys591Ser) c.27+2399C>G | |
| 6 | g.116120344C>T | CA365386916 | COL10A1,NT5DC1 | c.529+2399C>T (n.529+2399C>T) c.1772G>A (p.Cys591Tyr) c.27+2399C>T | ClinVar dbSNP |
| 6 | g.116120345A= | CA1657093294 | COL10A1,NT5DC1 | c.529+2400A= (n.529+2400A=) c.1771T= (p.Cys591=) c.27+2400A= | |
| 6 | g.116120345A>C | CA365386919 | COL10A1,NT5DC1 | c.529+2400A>C (n.529+2400A>C) c.1771T>G (p.Cys591Gly) c.27+2400A>C | ClinVar dbSNP |
| 6 | g.116120345A>G | CA127212 | COL10A1,NT5DC1 | c.529+2400A>G (n.529+2400A>G) c.1771T>C (p.Cys591Arg) c.27+2400A>G | ClinVar dbSNP |
| 6 | g.116120345A>T | CA365386920 | COL10A1,NT5DC1 | c.529+2400A>T (n.529+2400A>T) c.1771T>A (p.Cys591Ser) c.27+2400A>T | |
| 6 | g.116120347_116120350del | CA2695206898 | COL10A1,NT5DC1 | c.529+2402_529+2405del (n.529+2402_529+2405del) c.1768_1771del (p.Thr590ValfsTer15) c.27+2402_27+2405del | |
| 6 | g.116120348_116120352del | CA2695206897 | COL10A1,NT5DC1 | c.529+2403_529+2407del (n.529+2403_529+2407del) c.1767_1771del (p.Phe589LeufsTer26) c.27+2403_27+2407del | |
| 6 | g.116120346A>C | CA451899484 | COL10A1,NT5DC1 | c.529+2401A>C (n.529+2401A>C) c.1770T>G (p.Thr590=) c.27+2401A>C | |
| 6 | g.116120346A>G | CA451899485 | COL10A1,NT5DC1 | c.529+2401A>G (n.529+2401A>G) c.1770T>C (p.Thr590=) c.27+2401A>G | gnomAD v3 gnomAD v4 |
| 6 | g.116120346A>T | CA451899486 | COL10A1,NT5DC1 | c.529+2401A>T (n.529+2401A>T) c.1770T>A (p.Thr590=) c.27+2401A>T | |
| 6 | g.116120347G>A | CA3968116 | COL10A1,NT5DC1 | c.529+2402G>A (n.529+2402G>A) c.1769C>T (p.Thr590Ile) c.27+2402G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120347G>C | CA365386922 | COL10A1,NT5DC1 | c.529+2402G>C (n.529+2402G>C) c.1769C>G (p.Thr590Ser) c.27+2402G>C | |
| 6 | g.116120347G= | CA1657093295 | COL10A1,NT5DC1 | c.529+2402G= (n.529+2402G=) c.1769C= (p.Thr590=) c.27+2402G= | |
| 6 | g.116120347G>T | CA365386924 | COL10A1,NT5DC1 | c.529+2402G>T (n.529+2402G>T) c.1769C>A (p.Thr590Asn) c.27+2402G>T | |
| 6 | g.116120348T>A | CA365386928 | COL10A1,NT5DC1 | c.529+2403T>A (n.529+2403T>A) c.1768A>T (p.Thr590Ser) c.27+2403T>A | |
| 6 | g.116120348T>C | CA365386926 | COL10A1,NT5DC1 | c.529+2403T>C (n.529+2403T>C) c.1768A>G (p.Thr590Ala) c.27+2403T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120348T>G | CA365386927 | COL10A1,NT5DC1 | c.529+2403T>G (n.529+2403T>G) c.1768A>C (p.Thr590Pro) c.27+2403T>G | |
| 6 | g.116120348T= | CA1657093296 | COL10A1,NT5DC1 | c.529+2403T= (n.529+2403T=) c.1768A= (p.Thr590=) c.27+2403T= | |
| 6 | g.116120349A= | CA1657093297 | COL10A1,NT5DC1 | c.529+2404A= (n.529+2404A=) c.1767T= (p.Phe589=) c.27+2404A= | |
| 6 | g.116120349A>C | CA365386930 | COL10A1,NT5DC1 | c.529+2404A>C (n.529+2404A>C) c.1767T>G (p.Phe589Leu) c.27+2404A>C | |
| 6 | g.116120349A>G | CA451899492 | COL10A1,NT5DC1 | c.529+2404A>G (n.529+2404A>G) c.1767T>C (p.Phe589=) c.27+2404A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120349A>T | CA365386931 | COL10A1,NT5DC1 | c.529+2404A>T (n.529+2404A>T) c.1767T>A (p.Phe589Leu) c.27+2404A>T | |
| 6 | g.116120351dup | CA2695206899 | COL10A1,NT5DC1 | c.529+2406dup (n.529+2406dup) c.1767dup (p.Thr590TyrfsTer27) c.27+2406dup | |
| 6 | g.116120349_116120350insTT | CA915943616 | COL10A1,NT5DC1 | c.529+2404_529+2405insTT (n.529+2404_529+2405insTT) c.1766_1767insAA (p.Phe589LeufsTer18) c.27+2404_27+2405insTT | ClinVar dbSNP |
| 6 | g.116120350A>C | CA365386933 | COL10A1,NT5DC1 | c.529+2405A>C (n.529+2405A>C) c.1766T>G (p.Phe589Cys) c.27+2405A>C | |
| 6 | g.116120350A>G | CA365386935 | COL10A1,NT5DC1 | c.529+2405A>G (n.529+2405A>G) c.1766T>C (p.Phe589Ser) c.27+2405A>G | ClinVar |
| 6 | g.116120350A>T | CA365386939 | COL10A1,NT5DC1 | c.529+2405A>T (n.529+2405A>T) c.1766T>A (p.Phe589Tyr) c.27+2405A>T | |
| 6 | g.116120351A>C | CA365386943 | COL10A1,NT5DC1 | c.529+2406A>C (n.529+2406A>C) c.1765T>G (p.Phe589Val) c.27+2406A>C | |
| 6 | g.116120351A>G | CA365386940 | COL10A1,NT5DC1 | c.529+2406A>G (n.529+2406A>G) c.1765T>C (p.Phe589Leu) c.27+2406A>G | |
| 6 | g.116120351A>T | CA365386942 | COL10A1,NT5DC1 | c.529+2406A>T (n.529+2406A>T) c.1765T>A (p.Phe589Ile) c.27+2406A>T | |
| 6 | g.116120352G>A | CA451899497 | COL10A1,NT5DC1 | c.529+2407G>A (n.529+2407G>A) c.1764C>T (p.Ile588=) c.27+2407G>A | |
| 6 | g.116120352G>C | CA365386945 | COL10A1,NT5DC1 | c.529+2407G>C (n.529+2407G>C) c.1764C>G (p.Ile588Met) c.27+2407G>C | |
| 6 | g.116120352G>T | CA451899498 | COL10A1,NT5DC1 | c.529+2407G>T (n.529+2407G>T) c.1764C>A (p.Ile588=) c.27+2407G>T | |
| 6 | g.116120353A= | CA1657093298 | COL10A1,NT5DC1 | c.529+2408A= (n.529+2408A=) c.1763T= (p.Ile588=) c.27+2408A= | |
| 6 | g.116120353A>C | CA365386946 | COL10A1,NT5DC1 | c.529+2408A>C (n.529+2408A>C) c.1763T>G (p.Ile588Ser) c.27+2408A>C | |
| 6 | g.116120353A>G | CA3968117 | COL10A1,NT5DC1 | c.529+2408A>G (n.529+2408A>G) c.1763T>C (p.Ile588Thr) c.27+2408A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120353A>T | CA365386951 | COL10A1,NT5DC1 | c.529+2408A>T (n.529+2408A>T) c.1763T>A (p.Ile588Asn) c.27+2408A>T | |
| 6 | g.116120354T>A | CA365386952 | COL10A1,NT5DC1 | c.529+2409T>A (n.529+2409T>A) c.1762A>T (p.Ile588Phe) c.27+2409T>A | |
| 6 | g.116120354T>C | CA365386954 | COL10A1,NT5DC1 | c.529+2409T>C (n.529+2409T>C) c.1762A>G (p.Ile588Val) c.27+2409T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120354T>G | CA365386956 | COL10A1,NT5DC1 | c.529+2409T>G (n.529+2409T>G) c.1762A>C (p.Ile588Leu) c.27+2409T>G | COSMIC |
| 6 | g.116120354T= | CA1657093299 | COL10A1,NT5DC1 | c.529+2409T= (n.529+2409T=) c.1762A= (p.Ile588=) c.27+2409T= | |
| 6 | g.116120355T>A | CA451899500 | COL10A1,NT5DC1 | c.529+2410T>A (n.529+2410T>A) c.1761A>T (p.Gly587=) c.27+2410T>A | |
| 6 | g.116120355T>C | CA451899501 | COL10A1,NT5DC1 | c.529+2410T>C (n.529+2410T>C) c.1761A>G (p.Gly587=) c.27+2410T>C | gnomAD v4 |
| 6 | g.116120355T>G | CA451899502 | COL10A1,NT5DC1 | c.529+2410T>G (n.529+2410T>G) c.1761A>C (p.Gly587=) c.27+2410T>G | |
| 6 | g.116120356C>A | CA365386957 | COL10A1,NT5DC1 | c.529+2411C>A (n.529+2411C>A) c.1760G>T (p.Gly587Val) c.27+2411C>A | |
| 6 | g.116120356C>G | CA365386958 | COL10A1,NT5DC1 | c.529+2411C>G (n.529+2411C>G) c.1760G>C (p.Gly587Ala) c.27+2411C>G | gnomAD v4 |
| 6 | g.116120356C>T | CA365386960 | COL10A1,NT5DC1 | c.529+2411C>T (n.529+2411C>T) c.1760G>A (p.Gly587Glu) c.27+2411C>T | |
| 6 | g.116120357del | CA2573140420 | COL10A1,NT5DC1 | c.529+2412del (n.529+2412del) c.1760del (p.Gly587GlufsTer19) c.27+2412del | ClinVar dbSNP |
| 6 | g.116120357C>A | CA365386961 | COL10A1,NT5DC1 | c.529+2412C>A (n.529+2412C>A) c.1759G>T (p.Gly587Ter) c.27+2412C>A | |
| 6 | g.116120357C= | CA1657093300 | COL10A1,NT5DC1 | c.529+2412C= (n.529+2412C=) c.1759G= (p.Gly587=) c.27+2412C= | |
| 6 | g.116120357C>G | CA365386963 | COL10A1,NT5DC1 | c.529+2412C>G (n.529+2412C>G) c.1759G>C (p.Gly587Arg) c.27+2412C>G | gnomAD v4 |
| 6 | g.116120357C>T | CA3968118 | COL10A1,NT5DC1 | c.529+2412C>T (n.529+2412C>T) c.1759G>A (p.Gly587Arg) c.27+2412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120358A>C | CA451899503 | COL10A1,NT5DC1 | c.529+2413A>C (n.529+2413A>C) c.1758T>G (p.Thr586=) c.27+2413A>C | |
| 6 | g.116120358A>G | CA451899504 | COL10A1,NT5DC1 | c.529+2413A>G (n.529+2413A>G) c.1758T>C (p.Thr586=) c.27+2413A>G | gnomAD v4 |
| 6 | g.116120358A>T | CA451899505 | COL10A1,NT5DC1 | c.529+2413A>T (n.529+2413A>T) c.1758T>A (p.Thr586=) c.27+2413A>T | |
| 6 | g.116120359G>A | CA365386968 | COL10A1,NT5DC1 | c.529+2414G>A (n.529+2414G>A) c.1757C>T (p.Thr586Ile) c.27+2414G>A | |
| 6 | g.116120359G>C | CA365386965 | COL10A1,NT5DC1 | c.529+2414G>C (n.529+2414G>C) c.1757C>G (p.Thr586Ser) c.27+2414G>C | |
| 6 | g.116120359G>T | CA365386966 | COL10A1,NT5DC1 | c.529+2414G>T (n.529+2414G>T) c.1757C>A (p.Thr586Asn) c.27+2414G>T | |
| 6 | g.116120360T>A | CA365386970 | COL10A1,NT5DC1 | c.529+2415T>A (n.529+2415T>A) c.1756A>T (p.Thr586Ser) c.27+2415T>A | |
| 6 | g.116120360T>C | CA365386974 | COL10A1,NT5DC1 | c.529+2415T>C (n.529+2415T>C) c.1756A>G (p.Thr586Ala) c.27+2415T>C | |
| 6 | g.116120360T>G | CA365386975 | COL10A1,NT5DC1 | c.529+2415T>G (n.529+2415T>G) c.1756A>C (p.Thr586Pro) c.27+2415T>G | ClinVar dbSNP |
| 6 | g.116120361C>A | CA365386977 | COL10A1,NT5DC1 | c.529+2416C>A (n.529+2416C>A) c.1755G>T (p.Arg585Ser) c.27+2416C>A | |
| 6 | g.116120361C>G | CA365386978 | COL10A1,NT5DC1 | c.529+2416C>G (n.529+2416C>G) c.1755G>C (p.Arg585Ser) c.27+2416C>G | |
| 6 | g.116120361C>T | CA451899507 | COL10A1,NT5DC1 | c.529+2416C>T (n.529+2416C>T) c.1755G>A (p.Arg585=) c.27+2416C>T | |
| 6 | g.116120362C>A | CA365386979 | COL10A1,NT5DC1 | c.529+2417C>A (n.529+2417C>A) c.1754G>T (p.Arg585Met) c.27+2417C>A | |
| 6 | g.116120362C>G | CA365386980 | COL10A1,NT5DC1 | c.529+2417C>G (n.529+2417C>G) c.1754G>C (p.Arg585Thr) c.27+2417C>G | |
| 6 | g.116120362C>T | CA365386981 | COL10A1,NT5DC1 | c.529+2417C>T (n.529+2417C>T) c.1754G>A (p.Arg585Lys) c.27+2417C>T | gnomAD v4 |
| 6 | g.116120363T>A | CA365386982 | COL10A1,NT5DC1 | c.529+2418T>A (n.529+2418T>A) c.1753A>T (p.Arg585Trp) c.27+2418T>A | |
| 6 | g.116120363T>C | CA365386989 | COL10A1,NT5DC1 | c.529+2418T>C (n.529+2418T>C) c.1753A>G (p.Arg585Gly) c.27+2418T>C | |
| 6 | g.116120363T>G | CA451899508 | COL10A1,NT5DC1 | c.529+2418T>G (n.529+2418T>G) c.1753A>C (p.Arg585=) c.27+2418T>G | |
| 6 | g.116120364T>A | CA451899510 | COL10A1,NT5DC1 | c.529+2419T>A (n.529+2419T>A) c.1752A>T (p.Pro584=) c.27+2419T>A | |
| 6 | g.116120364T>C | CA451899512 | COL10A1,NT5DC1 | c.529+2419T>C (n.529+2419T>C) c.1752A>G (p.Pro584=) c.27+2419T>C | |
| 6 | g.116120364T>G | CA451899513 | COL10A1,NT5DC1 | c.529+2419T>G (n.529+2419T>G) c.1752A>C (p.Pro584=) c.27+2419T>G | |
| 6 | g.116120365G>A | CA365386991 | COL10A1,NT5DC1 | c.529+2420G>A (n.529+2420G>A) c.1751C>T (p.Pro584Leu) c.27+2420G>A | |
| 6 | g.116120365G>C | CA365386992 | COL10A1,NT5DC1 | c.529+2420G>C (n.529+2420G>C) c.1751C>G (p.Pro584Arg) c.27+2420G>C | |
| 6 | g.116120365G>T | CA365386994 | COL10A1,NT5DC1 | c.529+2420G>T (n.529+2420G>T) c.1751C>A (p.Pro584Gln) c.27+2420G>T | gnomAD v4 |
| 6 | g.116120366G>A | CA365386999 | COL10A1,NT5DC1 | c.529+2421G>A (n.529+2421G>A) c.1750C>T (p.Pro584Ser) c.27+2421G>A | |
| 6 | g.116120366G>C | CA365386997 | COL10A1,NT5DC1 | c.529+2421G>C (n.529+2421G>C) c.1750C>G (p.Pro584Ala) c.27+2421G>C | |
| 6 | g.116120366G>T | CA365386995 | COL10A1,NT5DC1 | c.529+2421G>T (n.529+2421G>T) c.1750C>A (p.Pro584Thr) c.27+2421G>T | |
| 6 | g.116120367G>A | CA451899515 | COL10A1,NT5DC1 | c.529+2422G>A (n.529+2422G>A) c.1749C>T (p.Asp583=) c.27+2422G>A | |
| 6 | g.116120367G>C | CA365387001 | COL10A1,NT5DC1 | c.529+2422G>C (n.529+2422G>C) c.1749C>G (p.Asp583Glu) c.27+2422G>C | |
| 6 | g.116120367G>T | CA365387002 | COL10A1,NT5DC1 | c.529+2422G>T (n.529+2422G>T) c.1749C>A (p.Asp583Glu) c.27+2422G>T | |
| 6 | g.116120368T>A | CA365387003 | COL10A1,NT5DC1 | c.529+2423T>A (n.529+2423T>A) c.1748A>T (p.Asp583Val) c.27+2423T>A | |
| 6 | g.116120368T>C | CA365387004 | COL10A1,NT5DC1 | c.529+2423T>C (n.529+2423T>C) c.1748A>G (p.Asp583Gly) c.27+2423T>C | |
| 6 | g.116120368T>G | CA365387005 | COL10A1,NT5DC1 | c.529+2423T>G (n.529+2423T>G) c.1748A>C (p.Asp583Ala) c.27+2423T>G | |
| 6 | g.116120369C>A | CA365387006 | COL10A1,NT5DC1 | c.529+2424C>A (n.529+2424C>A) c.1747G>T (p.Asp583Tyr) c.27+2424C>A | |
| 6 | g.116120369C= | CA1657093301 | COL10A1,NT5DC1 | c.529+2424C= (n.529+2424C=) c.1747G= (p.Asp583=) c.27+2424C= | |
| 6 | g.116120369C>G | CA365387007 | COL10A1,NT5DC1 | c.529+2424C>G (n.529+2424C>G) c.1747G>C (p.Asp583His) c.27+2424C>G | |
| 6 | g.116120369C>T | CA365387008 | COL10A1,NT5DC1 | c.529+2424C>T (n.529+2424C>T) c.1747G>A (p.Asp583Asn) c.27+2424C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120370A>C | CA365387009 | COL10A1,NT5DC1 | c.529+2425A>C (n.529+2425A>C) c.1746T>G (p.Tyr582Ter) c.27+2425A>C | |
| 6 | g.116120370A>G | CA451899516 | COL10A1,NT5DC1 | c.529+2425A>G (n.529+2425A>G) c.1746T>C (p.Tyr582=) c.27+2425A>G | |
| 6 | g.116120370A>T | CA365387010 | COL10A1,NT5DC1 | c.529+2425A>T (n.529+2425A>T) c.1746T>A (p.Tyr582Ter) c.27+2425A>T | |
| 6 | g.116120371T>A | CA365387012 | COL10A1,NT5DC1 | c.529+2426T>A (n.529+2426T>A) c.1745A>T (p.Tyr582Phe) c.27+2426T>A | |
| 6 | g.116120371T>C | CA365387013 | COL10A1,NT5DC1 | c.529+2426T>C (n.529+2426T>C) c.1745A>G (p.Tyr582Cys) c.27+2426T>C | ClinVar |
| 6 | g.116120371T>G | CA365387014 | COL10A1,NT5DC1 | c.529+2426T>G (n.529+2426T>G) c.1745A>C (p.Tyr582Ser) c.27+2426T>G | |
| 6 | g.116120372A>C | CA365387016 | COL10A1,NT5DC1 | c.529+2427A>C (n.529+2427A>C) c.1744T>G (p.Tyr582Asp) c.27+2427A>C | |
| 6 | g.116120372A>G | CA365387018 | COL10A1,NT5DC1 | c.529+2427A>G (n.529+2427A>G) c.1744T>C (p.Tyr582His) c.27+2427A>G | COSMIC |
| 6 | g.116120372A>T | CA365387015 | COL10A1,NT5DC1 | c.529+2427A>T (n.529+2427A>T) c.1744T>A (p.Tyr582Asn) c.27+2427A>T | |
| 6 | g.116120373A= | CA1657093302 | COL10A1,NT5DC1 | c.529+2428A= (n.529+2428A=) c.1743T= (p.His581=) c.27+2428A= | |
| 6 | g.116120373A>C | CA365387019 | COL10A1,NT5DC1 | c.529+2428A>C (n.529+2428A>C) c.1743T>G (p.His581Gln) c.27+2428A>C | gnomAD v4 |
| 6 | g.116120373A>G | CA3968119 | COL10A1,NT5DC1 | c.529+2428A>G (n.529+2428A>G) c.1743T>C (p.His581=) c.27+2428A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120373A>T | CA145908495 | COL10A1,NT5DC1 | c.529+2428A>T (n.529+2428A>T) c.1743T>A (p.His581Gln) c.27+2428A>T | dbSNP |
| 6 | g.116120374T>A | CA365387020 | COL10A1,NT5DC1 | c.529+2429T>A (n.529+2429T>A) c.1742A>T (p.His581Leu) c.27+2429T>A | |
| 6 | g.116120374T>C | CA365387021 | COL10A1,NT5DC1 | c.529+2429T>C (n.529+2429T>C) c.1742A>G (p.His581Arg) c.27+2429T>C | gnomAD v4 |
| 6 | g.116120374T>G | CA365387022 | COL10A1,NT5DC1 | c.529+2429T>G (n.529+2429T>G) c.1742A>C (p.His581Pro) c.27+2429T>G | |
| 6 | g.116120375G>A | CA365387023 | COL10A1,NT5DC1 | c.529+2430G>A (n.529+2430G>A) c.1741C>T (p.His581Tyr) c.27+2430G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120375G>C | CA365387024 | COL10A1,NT5DC1 | c.529+2430G>C (n.529+2430G>C) c.1741C>G (p.His581Asp) c.27+2430G>C | dbSNP gnomAD v4 |
| 6 | g.116120375G= | CA1657093303 | COL10A1,NT5DC1 | c.529+2430G= (n.529+2430G=) c.1741C= (p.His581=) c.27+2430G= | |
| 6 | g.116120375G>T | CA365387025 | COL10A1,NT5DC1 | c.529+2430G>T (n.529+2430G>T) c.1741C>A (p.His581Asn) c.27+2430G>T | ClinVar |
| 6 | g.116120376C>A | CA365387026 | COL10A1,NT5DC1 | c.529+2431C>A (n.529+2431C>A) c.1740G>T (p.Gln580His) c.27+2431C>A | |
| 6 | g.116120376C>G | CA365387028 | COL10A1,NT5DC1 | c.529+2431C>G (n.529+2431C>G) c.1740G>C (p.Gln580His) c.27+2431C>G | |
| 6 | g.116120376C>T | CA451899518 | COL10A1,NT5DC1 | c.529+2431C>T (n.529+2431C>T) c.1740G>A (p.Gln580=) c.27+2431C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.116120377T>A | CA365387029 | COL10A1,NT5DC1 | c.529+2432T>A (n.529+2432T>A) c.1739A>T (p.Gln580Leu) c.27+2432T>A | |
| 6 | g.116120377T>C | CA365387031 | COL10A1,NT5DC1 | c.529+2432T>C (n.529+2432T>C) c.1739A>G (p.Gln580Arg) c.27+2432T>C | |
| 6 | g.116120377T>G | CA365387035 | COL10A1,NT5DC1 | c.529+2432T>G (n.529+2432T>G) c.1739A>C (p.Gln580Pro) c.27+2432T>G | |
| 6 | g.116120377_116120381delinsAAGGGTCCTTGGGTCCTTGGGT | CA2499218044 | COL10A1,NT5DC1 | c.529+2432_529+2436delinsAAGGGTCCTTGGGTCCTTGGGT (n.529+2432_529+2436delinsAAGGGTCCTTGGGTCCTTGGGT) c.1735_1739delinsACCCAAGGACCCAAGGACCCTT (p.Gln579ThrfsTer33) c.27+2432_27+2436delinsAAGGGTCCTTGGGTCCTTGGGT | ClinVar dbSNP |
| 6 | g.116120378G>A | CA365387039 | COL10A1,NT5DC1 | c.529+2433G>A (n.529+2433G>A) c.1738C>T (p.Gln580Ter) c.27+2433G>A | |
| 6 | g.116120378G>C | CA365387038 | COL10A1,NT5DC1 | c.529+2433G>C (n.529+2433G>C) c.1738C>G (p.Gln580Glu) c.27+2433G>C | |
| 6 | g.116120378G>T | CA365387036 | COL10A1,NT5DC1 | c.529+2433G>T (n.529+2433G>T) c.1738C>A (p.Gln580Lys) c.27+2433G>T | COSMIC |
| 6 | g.116120379T>A | CA365387040 | COL10A1,NT5DC1 | c.529+2434T>A (n.529+2434T>A) c.1737A>T (p.Gln579His) c.27+2434T>A | |
| 6 | g.116120379T>C | CA451899521 | COL10A1,NT5DC1 | c.529+2434T>C (n.529+2434T>C) c.1737A>G (p.Gln579=) c.27+2434T>C | |
| 6 | g.116120379T>G | CA365387041 | COL10A1,NT5DC1 | c.529+2434T>G (n.529+2434T>G) c.1737A>C (p.Gln579His) c.27+2434T>G | |
| 6 | g.116120380T>A | CA365387042 | COL10A1,NT5DC1 | c.529+2435T>A (n.529+2435T>A) c.1736A>T (p.Gln579Leu) c.27+2435T>A | |
| 6 | g.116120380T>C | CA365387043 | COL10A1,NT5DC1 | c.529+2435T>C (n.529+2435T>C) c.1736A>G (p.Gln579Arg) c.27+2435T>C | |
| 6 | g.116120380T>G | CA365387044 | COL10A1,NT5DC1 | c.529+2435T>G (n.529+2435T>G) c.1736A>C (p.Gln579Pro) c.27+2435T>G | |
| 6 | g.116120381G>A | CA365387046 | COL10A1,NT5DC1 | c.529+2436G>A (n.529+2436G>A) c.1735C>T (p.Gln579Ter) c.27+2436G>A | gnomAD v4 |
| 6 | g.116120381G>C | CA365387047 | COL10A1,NT5DC1 | c.529+2436G>C (n.529+2436G>C) c.1735C>G (p.Gln579Glu) c.27+2436G>C | |
| 6 | g.116120381G>T | CA365387048 | COL10A1,NT5DC1 | c.529+2436G>T (n.529+2436G>T) c.1735C>A (p.Gln579Lys) c.27+2436G>T | ClinVar |
| 6 | g.116120382C>A | CA365387049 | COL10A1,NT5DC1 | c.529+2437C>A (n.529+2437C>A) c.1734G>T (p.Arg578Ser) c.27+2437C>A | |
| 6 | g.116120382C>G | CA365387050 | COL10A1,NT5DC1 | c.529+2437C>G (n.529+2437C>G) c.1734G>C (p.Arg578Ser) c.27+2437C>G | |
| 6 | g.116120382C>T | CA451899522 | COL10A1,NT5DC1 | c.529+2437C>T (n.529+2437C>T) c.1734G>A (p.Arg578=) c.27+2437C>T | |
| 6 | g.116120383C>A | CA365387051 | COL10A1,NT5DC1 | c.529+2438C>A (n.529+2438C>A) c.1733G>T (p.Arg578Met) c.27+2438C>A | |
| 6 | g.116120383C>G | CA365387052 | COL10A1,NT5DC1 | c.529+2438C>G (n.529+2438C>G) c.1733G>C (p.Arg578Thr) c.27+2438C>G | gnomAD v4 |
| 6 | g.116120383C>T | CA365387053 | COL10A1,NT5DC1 | c.529+2438C>T (n.529+2438C>T) c.1733G>A (p.Arg578Lys) c.27+2438C>T | |
| 6 | g.116120384T>A | CA365387054 | COL10A1,NT5DC1 | c.529+2439T>A (n.529+2439T>A) c.1732A>T (p.Arg578Trp) c.27+2439T>A | |
| 6 | g.116120384T>C | CA365387055 | COL10A1,NT5DC1 | c.529+2439T>C (n.529+2439T>C) c.1732A>G (p.Arg578Gly) c.27+2439T>C | |
| 6 | g.116120384T>G | CA451899524 | COL10A1,NT5DC1 | c.529+2439T>G (n.529+2439T>G) c.1732A>C (p.Arg578=) c.27+2439T>G | |
| 6 | g.116120385G>A | CA451899525 | COL10A1,NT5DC1 | c.529+2440G>A (n.529+2440G>A) c.1731C>T (p.Asn577=) c.27+2440G>A | gnomAD v4 |
| 6 | g.116120385G>C | CA365387057 | COL10A1,NT5DC1 | c.529+2440G>C (n.529+2440G>C) c.1731C>G (p.Asn577Lys) c.27+2440G>C | |
| 6 | g.116120385G>T | CA365387059 | COL10A1,NT5DC1 | c.529+2440G>T (n.529+2440G>T) c.1731C>A (p.Asn577Lys) c.27+2440G>T | |
| 6 | g.116120386T>A | CA365387060 | COL10A1,NT5DC1 | c.529+2441T>A (n.529+2441T>A) c.1730A>T (p.Asn577Ile) c.27+2441T>A | |
| 6 | g.116120386T>C | CA365387064 | COL10A1,NT5DC1 | c.529+2441T>C (n.529+2441T>C) c.1730A>G (p.Asn577Ser) c.27+2441T>C | |
| 6 | g.116120386T>G | CA365387065 | COL10A1,NT5DC1 | c.529+2441T>G (n.529+2441T>G) c.1730A>C (p.Asn577Thr) c.27+2441T>G | |
| 6 | g.116120387T>A | CA365387068 | COL10A1,NT5DC1 | c.529+2442T>A (n.529+2442T>A) c.1729A>T (p.Asn577Tyr) c.27+2442T>A | |
| 6 | g.116120387T>C | CA365387067 | COL10A1,NT5DC1 | c.529+2442T>C (n.529+2442T>C) c.1729A>G (p.Asn577Asp) c.27+2442T>C | gnomAD v4 |
| 6 | g.116120387T>G | CA365387066 | COL10A1,NT5DC1 | c.529+2442T>G (n.529+2442T>G) c.1729A>C (p.Asn577His) c.27+2442T>G | |
| 6 | g.116120387T= | CA1657093304 | COL10A1,NT5DC1 | c.529+2442T= (n.529+2442T=) c.1729A= (p.Asn577=) c.27+2442T= | |
| 6 | g.116120388A= | CA1657093305 | COL10A1,NT5DC1 | c.529+2443A= (n.529+2443A=) c.1728T= (p.Tyr576=) c.27+2443A= | |
| 6 | g.116120388A>C | CA365387069 | COL10A1,NT5DC1 | c.529+2443A>C (n.529+2443A>C) c.1728T>G (p.Tyr576Ter) c.27+2443A>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120388A>G | CA3968120 | COL10A1,NT5DC1 | c.529+2443A>G (n.529+2443A>G) c.1728T>C (p.Tyr576=) c.27+2443A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120388A>T | CA365387070 | COL10A1,NT5DC1 | c.529+2443A>T (n.529+2443A>T) c.1728T>A (p.Tyr576Ter) c.27+2443A>T | dbSNP |
| 6 | g.116120388dup | CA817680272 | COL10A1,NT5DC1 | c.529+2443dup (n.529+2443dup) c.1728dup (p.Asn577Ter) c.27+2443dup | dbSNP gnomAD v4 |
| 6 | g.116120389T>A | CA365387071 | COL10A1,NT5DC1 | c.529+2444T>A (n.529+2444T>A) c.1727A>T (p.Tyr576Phe) c.27+2444T>A | |
| 6 | g.116120389T>C | CA3968121 | COL10A1,NT5DC1 | c.529+2444T>C (n.529+2444T>C) c.1727A>G (p.Tyr576Cys) c.27+2444T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116120389T>G | CA365387072 | COL10A1,NT5DC1 | c.529+2444T>G (n.529+2444T>G) c.1727A>C (p.Tyr576Ser) c.27+2444T>G | |
| 6 | g.116120389T= | CA1657093306 | COL10A1,NT5DC1 | c.529+2444T= (n.529+2444T=) c.1727A= (p.Tyr576=) c.27+2444T= | |
| 6 | g.116120390A= | CA1657093307 | COL10A1,NT5DC1 | c.529+2445A= (n.529+2445A=) c.1726T= (p.Tyr576=) c.27+2445A= | |
| 6 | g.116120390A>C | CA365387073 | COL10A1,NT5DC1 | c.529+2445A>C (n.529+2445A>C) c.1726T>G (p.Tyr576Asp) c.27+2445A>C | |
| 6 | g.116120390A>G | CA3968122 | COL10A1,NT5DC1 | c.529+2445A>G (n.529+2445A>G) c.1726T>C (p.Tyr576His) c.27+2445A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120390A>T | CA365387074 | COL10A1,NT5DC1 | c.529+2445A>T (n.529+2445A>T) c.1726T>A (p.Tyr576Asn) c.27+2445A>T | |
| 6 | g.116120390_116120391delinsAC | CA1657093308 | COL10A1,NT5DC1 | c.529+2445_529+2446delinsAC (n.529+2445_529+2446delinsAC) c.1725_1726delinsGT (p.Leu575=) c.27+2445_27+2446delinsAC | |
| 6 | g.116120391del | CA1657093309 | COL10A1,NT5DC1 | c.529+2446del (n.529+2446del) c.1725del (p.Leu575PhefsTer?) c.27+2446del | ClinVar dbSNP |
| 6 | g.116120391C>A | CA365387075 | COL10A1,NT5DC1 | c.529+2446C>A (n.529+2446C>A) c.1725G>T (p.Leu575Phe) c.27+2446C>A | ClinVar |
| 6 | g.116120391C>G | CA365387076 | COL10A1,NT5DC1 | c.529+2446C>G (n.529+2446C>G) c.1725G>C (p.Leu575Phe) c.27+2446C>G | |
| 6 | g.116120391C>T | CA451899527 | COL10A1,NT5DC1 | c.529+2446C>T (n.529+2446C>T) c.1725G>A (p.Leu575=) c.27+2446C>T | |
| 6 | g.116120392A>C | CA365387077 | COL10A1,NT5DC1 | c.529+2447A>C (n.529+2447A>C) c.1724T>G (p.Leu575Trp) c.27+2447A>C | |
| 6 | g.116120392A>G | CA365387078 | COL10A1,NT5DC1 | c.529+2447A>G (n.529+2447A>G) c.1724T>C (p.Leu575Ser) c.27+2447A>G | gnomAD v4 |
| 6 | g.116120392A>T | CA365387079 | COL10A1,NT5DC1 | c.529+2447A>T (n.529+2447A>T) c.1724T>A (p.Leu575Ter) c.27+2447A>T | gnomAD v4 |
| 6 | g.116120393A>C | CA365387080 | COL10A1,NT5DC1 | c.529+2448A>C (n.529+2448A>C) c.1723T>G (p.Leu575Val) c.27+2448A>C | gnomAD v4 |
| 6 | g.116120393A>G | CA451899529 | COL10A1,NT5DC1 | c.529+2448A>G (n.529+2448A>G) c.1723T>C (p.Leu575=) c.27+2448A>G | gnomAD v4 |
| 6 | g.116120393A>T | CA365387081 | COL10A1,NT5DC1 | c.529+2448A>T (n.529+2448A>T) c.1723T>A (p.Leu575Met) c.27+2448A>T | |
| 6 | g.116120394A= | CA1657093310 | COL10A1,NT5DC1 | c.529+2449A= (n.529+2449A=) c.1722T= (p.Ile574=) c.27+2449A= | |
| 6 | g.116120394A>C | CA365387087 | COL10A1,NT5DC1 | c.529+2449A>C (n.529+2449A>C) c.1722T>G (p.Ile574Met) c.27+2449A>C | dbSNP COSMIC |
| 6 | g.116120394A>G | CA451899530 | COL10A1,NT5DC1 | c.529+2449A>G (n.529+2449A>G) c.1722T>C (p.Ile574=) c.27+2449A>G | |
| 6 | g.116120394A>T | CA451899531 | COL10A1,NT5DC1 | c.529+2449A>T (n.529+2449A>T) c.1722T>A (p.Ile574=) c.27+2449A>T | |
| 6 | g.116120395A= | CA1657093311 | COL10A1,NT5DC1 | c.529+2450A= (n.529+2450A=) c.1721T= (p.Ile574=) c.27+2450A= | |
| 6 | g.116120395A>C | CA365387089 | COL10A1,NT5DC1 | c.529+2450A>C (n.529+2450A>C) c.1721T>G (p.Ile574Ser) c.27+2450A>C | dbSNP |
| 6 | g.116120395A>G | CA365387091 | COL10A1,NT5DC1 | c.529+2450A>G (n.529+2450A>G) c.1721T>C (p.Ile574Thr) c.27+2450A>G | |
| 6 | g.116120395A>T | CA365387093 | COL10A1,NT5DC1 | c.529+2450A>T (n.529+2450A>T) c.1721T>A (p.Ile574Asn) c.27+2450A>T | |
| 6 | g.116120396T>A | CA365387096 | COL10A1,NT5DC1 | c.529+2451T>A (n.529+2451T>A) c.1720A>T (p.Ile574Phe) c.27+2451T>A | |
| 6 | g.116120396T>C | CA365387097 | COL10A1,NT5DC1 | c.529+2451T>C (n.529+2451T>C) c.1720A>G (p.Ile574Val) c.27+2451T>C | |
| 6 | g.116120396T>G | CA365387095 | COL10A1,NT5DC1 | c.529+2451T>G (n.529+2451T>G) c.1720A>C (p.Ile574Leu) c.27+2451T>G | |
| 6 | g.116120397T>A | CA365387102 | COL10A1,NT5DC1 | c.529+2452T>A (n.529+2452T>A) c.1719A>T (p.Lys573Asn) c.27+2452T>A | |
| 6 | g.116120397T>C | CA451899532 | COL10A1,NT5DC1 | c.529+2452T>C (n.529+2452T>C) c.1719A>G (p.Lys573=) c.27+2452T>C | |
| 6 | g.116120397T>G | CA365387103 | COL10A1,NT5DC1 | c.529+2452T>G (n.529+2452T>G) c.1719A>C (p.Lys573Asn) c.27+2452T>G | |
| 6 | g.116120398T>A | CA365387105 | COL10A1,NT5DC1 | c.529+2453T>A (n.529+2453T>A) c.1718A>T (p.Lys573Ile) c.27+2453T>A | |
| 6 | g.116120398T>C | CA365387106 | COL10A1,NT5DC1 | c.529+2453T>C (n.529+2453T>C) c.1718A>G (p.Lys573Arg) c.27+2453T>C | |
| 6 | g.116120398T>G | CA3968123 | COL10A1,NT5DC1 | c.529+2453T>G (n.529+2453T>G) c.1718A>C (p.Lys573Thr) c.27+2453T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120398T= | CA1657093312 | COL10A1,NT5DC1 | c.529+2453T= (n.529+2453T=) c.1718A= (p.Lys573=) c.27+2453T= | |
| 6 | g.116120399T>A | CA365387107 | COL10A1,NT5DC1 | c.529+2454T>A (n.529+2454T>A) c.1717A>T (p.Lys573Ter) c.27+2454T>A | |
| 6 | g.116120399T>C | CA365387109 | COL10A1,NT5DC1 | c.529+2454T>C (n.529+2454T>C) c.1717A>G (p.Lys573Glu) c.27+2454T>C | |
| 6 | g.116120399T>G | CA365387108 | COL10A1,NT5DC1 | c.529+2454T>G (n.529+2454T>G) c.1717A>C (p.Lys573Gln) c.27+2454T>G | |
| 6 | g.116120400A= | CA1657093313 | COL10A1,NT5DC1 | c.529+2455A= (n.529+2455A=) c.1716T= (p.Asp572=) c.27+2455A= | |
| 6 | g.116120400A>C | CA365387110 | COL10A1,NT5DC1 | c.529+2455A>C (n.529+2455A>C) c.1716T>G (p.Asp572Glu) c.27+2455A>C | |
| 6 | g.116120400A>G | CA451899535 | COL10A1,NT5DC1 | c.529+2455A>G (n.529+2455A>G) c.1716T>C (p.Asp572=) c.27+2455A>G | gnomAD v4 |
| 6 | g.116120400A>T | CA365387112 | COL10A1,NT5DC1 | c.529+2455A>T (n.529+2455A>T) c.1716T>A (p.Asp572Glu) c.27+2455A>T | dbSNP |
| 6 | g.116120401T>A | CA365387113 | COL10A1,NT5DC1 | c.529+2456T>A (n.529+2456T>A) c.1715A>T (p.Asp572Val) c.27+2456T>A | |
| 6 | g.116120401T>C | CA365387114 | COL10A1,NT5DC1 | c.529+2456T>C (n.529+2456T>C) c.1715A>G (p.Asp572Gly) c.27+2456T>C | |
| 6 | g.116120401T>G | CA365387116 | COL10A1,NT5DC1 | c.529+2456T>G (n.529+2456T>G) c.1715A>C (p.Asp572Ala) c.27+2456T>G | |
| 6 | g.116120402C>A | CA365387118 | COL10A1,NT5DC1 | c.529+2457C>A (n.529+2457C>A) c.1714G>T (p.Asp572Tyr) c.27+2457C>A | |
| 6 | g.116120402C= | CA1657093314 | COL10A1,NT5DC1 | c.529+2457C= (n.529+2457C=) c.1714G= (p.Asp572=) c.27+2457C= | |
| 6 | g.116120402C>G | CA365387119 | COL10A1,NT5DC1 | c.529+2457C>G (n.529+2457C>G) c.1714G>C (p.Asp572His) c.27+2457C>G | |
| 6 | g.116120402C>T | CA3968124 | COL10A1,NT5DC1 | c.529+2457C>T (n.529+2457C>T) c.1714G>A (p.Asp572Asn) c.27+2457C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120403A= | CA1657093315 | COL10A1,NT5DC1 | c.529+2458A= (n.529+2458A=) c.1713T= (p.Phe571=) c.27+2458A= | |
| 6 | g.116120403A>C | CA365387122 | COL10A1,NT5DC1 | c.529+2458A>C (n.529+2458A>C) c.1713T>G (p.Phe571Leu) c.27+2458A>C | |
| 6 | g.116120403A>G | CA451899536 | COL10A1,NT5DC1 | c.529+2458A>G (n.529+2458A>G) c.1713T>C (p.Phe571=) c.27+2458A>G | dbSNP |
| 6 | g.116120403A>T | CA365387127 | COL10A1,NT5DC1 | c.529+2458A>T (n.529+2458A>T) c.1713T>A (p.Phe571Leu) c.27+2458A>T | |
| 6 | g.116120405del | CA2695206900 | COL10A1,NT5DC1 | c.529+2460del (n.529+2460del) c.1713del (p.Phe571LeufsTer?) c.27+2460del | |
| 6 | g.116120404A= | CA1657093316 | COL10A1,NT5DC1 | c.529+2459A= (n.529+2459A=) c.1712T= (p.Phe571=) c.27+2459A= | |
| 6 | g.116120404A>C | CA365387128 | COL10A1,NT5DC1 | c.529+2459A>C (n.529+2459A>C) c.1712T>G (p.Phe571Cys) c.27+2459A>C | |
| 6 | g.116120404A>G | CA3968125 | COL10A1,NT5DC1 | c.529+2459A>G (n.529+2459A>G) c.1712T>C (p.Phe571Ser) c.27+2459A>G | dbSNP ExAC gnomAD v4 |
| 6 | g.116120404A>T | CA365387129 | COL10A1,NT5DC1 | c.529+2459A>T (n.529+2459A>T) c.1712T>A (p.Phe571Tyr) c.27+2459A>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120405A>C | CA365387132 | COL10A1,NT5DC1 | c.529+2460A>C (n.529+2460A>C) c.1711T>G (p.Phe571Val) c.27+2460A>C | |
| 6 | g.116120405A>G | CA365387131 | COL10A1,NT5DC1 | c.529+2460A>G (n.529+2460A>G) c.1711T>C (p.Phe571Leu) c.27+2460A>G | |
| 6 | g.116120405A>T | CA365387130 | COL10A1,NT5DC1 | c.529+2460A>T (n.529+2460A>T) c.1711T>A (p.Phe571Ile) c.27+2460A>T | |
| 6 | g.116120406T>A | CA451899537 | COL10A1,NT5DC1 | c.529+2461T>A (n.529+2461T>A) c.1710A>T (p.Pro570=) c.27+2461T>A | |
| 6 | g.116120406T>C | CA451899538 | COL10A1,NT5DC1 | c.529+2461T>C (n.529+2461T>C) c.1710A>G (p.Pro570=) c.27+2461T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120406T>G | CA451899539 | COL10A1,NT5DC1 | c.529+2461T>G (n.529+2461T>G) c.1710A>C (p.Pro570=) c.27+2461T>G | |
| 6 | g.116120406T= | CA1657093317 | COL10A1,NT5DC1 | c.529+2461T= (n.529+2461T=) c.1710A= (p.Pro570=) c.27+2461T= | |
| 6 | g.116120407G>A | CA365387133 | COL10A1,NT5DC1 | c.529+2462G>A (n.529+2462G>A) c.1709C>T (p.Pro570Leu) c.27+2462G>A | gnomAD v4 |
| 6 | g.116120407G>C | CA365387136 | COL10A1,NT5DC1 | c.529+2462G>C (n.529+2462G>C) c.1709C>G (p.Pro570Arg) c.27+2462G>C | |
| 6 | g.116120407G>T | CA365387137 | COL10A1,NT5DC1 | c.529+2462G>T (n.529+2462G>T) c.1709C>A (p.Pro570Gln) c.27+2462G>T | gnomAD v4 |
| 6 | g.116120408G>A | CA365387138 | COL10A1,NT5DC1 | c.529+2463G>A (n.529+2463G>A) c.1708C>T (p.Pro570Ser) c.27+2463G>A | gnomAD v4 COSMIC |
| 6 | g.116120408G>C | CA365387143 | COL10A1,NT5DC1 | c.529+2463G>C (n.529+2463G>C) c.1708C>G (p.Pro570Ala) c.27+2463G>C | |
| 6 | g.116120408G= | CA1657093318 | COL10A1,NT5DC1 | c.529+2463G= (n.529+2463G=) c.1708C= (p.Pro570=) c.27+2463G= | |
| 6 | g.116120408G>T | CA3968126 | COL10A1,NT5DC1 | c.529+2463G>T (n.529+2463G>T) c.1708C>A (p.Pro570Thr) c.27+2463G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120409T>A | CA451899541 | COL10A1,NT5DC1 | c.529+2464T>A (n.529+2464T>A) c.1707A>T (p.Ile569=) c.27+2464T>A | |
| 6 | g.116120409T>C | CA365387144 | COL10A1,NT5DC1 | c.529+2464T>C (n.529+2464T>C) c.1707A>G (p.Ile569Met) c.27+2464T>C | |
| 6 | g.116120409T>G | CA451899542 | COL10A1,NT5DC1 | c.529+2464T>G (n.529+2464T>G) c.1707A>C (p.Ile569=) c.27+2464T>G | |
| 6 | g.116120410A= | CA1657093319 | COL10A1,NT5DC1 | c.529+2465A= (n.529+2465A=) c.1706T= (p.Ile569=) c.27+2465A= | |
| 6 | g.116120410A>C | CA365387145 | COL10A1,NT5DC1 | c.529+2465A>C (n.529+2465A>C) c.1706T>G (p.Ile569Arg) c.27+2465A>C | |
| 6 | g.116120410A>G | CA3968127 | COL10A1,NT5DC1 | c.529+2465A>G (n.529+2465A>G) c.1706T>C (p.Ile569Thr) c.27+2465A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120410A>T | CA365387152 | COL10A1,NT5DC1 | c.529+2465A>T (n.529+2465A>T) c.1706T>A (p.Ile569Lys) c.27+2465A>T | |
| 6 | g.116120411T>A | CA365387154 | COL10A1,NT5DC1 | c.529+2466T>A (n.529+2466T>A) c.1705A>T (p.Ile569Leu) c.27+2466T>A | |
| 6 | g.116120411T>C | CA365387156 | COL10A1,NT5DC1 | c.529+2466T>C (n.529+2466T>C) c.1705A>G (p.Ile569Val) c.27+2466T>C | ClinVar dbSNP |
| 6 | g.116120411T>G | CA365387157 | COL10A1,NT5DC1 | c.529+2466T>G (n.529+2466T>G) c.1705A>C (p.Ile569Leu) c.27+2466T>G | |
| 6 | g.116120411T= | CA1657093320 | COL10A1,NT5DC1 | c.529+2466T= (n.529+2466T=) c.1705A= (p.Ile569=) c.27+2466T= | |
| 6 | g.116120412G>A | CA451899543 | COL10A1,NT5DC1 | c.529+2467G>A (n.529+2467G>A) c.1704C>T (p.Pro568=) c.27+2467G>A | gnomAD v4 |
| 6 | g.116120412G>C | CA451899545 | COL10A1,NT5DC1 | c.529+2467G>C (n.529+2467G>C) c.1704C>G (p.Pro568=) c.27+2467G>C | gnomAD v4 |
| 6 | g.116120412G>T | CA451899546 | COL10A1,NT5DC1 | c.529+2467G>T (n.529+2467G>T) c.1704C>A (p.Pro568=) c.27+2467G>T | |
| 6 | g.116120413G>A | CA3968128 | COL10A1,NT5DC1 | c.529+2468G>A (n.529+2468G>A) c.1703C>T (p.Pro568Leu) c.27+2468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120413G>C | CA365387165 | COL10A1,NT5DC1 | c.529+2468G>C (n.529+2468G>C) c.1703C>G (p.Pro568Arg) c.27+2468G>C | |
| 6 | g.116120413G= | CA1657093321 | COL10A1,NT5DC1 | c.529+2468G= (n.529+2468G=) c.1703C= (p.Pro568=) c.27+2468G= | |
| 6 | g.116120413G>T | CA365387163 | COL10A1,NT5DC1 | c.529+2468G>T (n.529+2468G>T) c.1703C>A (p.Pro568His) c.27+2468G>T | |
| 6 | g.116120414G>A | CA145908566 | COL10A1,NT5DC1 | c.529+2469G>A (n.529+2469G>A) c.1702C>T (p.Pro568Ser) c.27+2469G>A | dbSNP |
| 6 | g.116120414G>C | CA365387168 | COL10A1,NT5DC1 | c.529+2469G>C (n.529+2469G>C) c.1702C>G (p.Pro568Ala) c.27+2469G>C | |
| 6 | g.116120414G= | CA1657093322 | COL10A1,NT5DC1 | c.529+2469G= (n.529+2469G=) c.1702C= (p.Pro568=) c.27+2469G= | |
| 6 | g.116120414G>T | CA365387171 | COL10A1,NT5DC1 | c.529+2469G>T (n.529+2469G>T) c.1702C>A (p.Pro568Thr) c.27+2469G>T | gnomAD v4 |
| 6 | g.116120415A>C | CA451899548 | COL10A1,NT5DC1 | c.529+2470A>C (n.529+2470A>C) c.1701T>G (p.Thr567=) c.27+2470A>C | |
| 6 | g.116120415A>G | CA451899549 | COL10A1,NT5DC1 | c.529+2470A>G (n.529+2470A>G) c.1701T>C (p.Thr567=) c.27+2470A>G | |
| 6 | g.116120415A>T | CA451899551 | COL10A1,NT5DC1 | c.529+2470A>T (n.529+2470A>T) c.1701T>A (p.Thr567=) c.27+2470A>T | |
| 6 | g.116120416G>A | CA365387172 | COL10A1,NT5DC1 | c.529+2471G>A (n.529+2471G>A) c.1700C>T (p.Thr567Ile) c.27+2471G>A | |
| 6 | g.116120416G>C | CA365387174 | COL10A1,NT5DC1 | c.529+2471G>C (n.529+2471G>C) c.1700C>G (p.Thr567Ser) c.27+2471G>C | |
| 6 | g.116120416G>T | CA365387175 | COL10A1,NT5DC1 | c.529+2471G>T (n.529+2471G>T) c.1700C>A (p.Thr567Asn) c.27+2471G>T | |
| 6 | g.116120417T>A | CA365387177 | COL10A1,NT5DC1 | c.529+2472T>A (n.529+2472T>A) c.1699A>T (p.Thr567Ser) c.27+2472T>A | |
| 6 | g.116120417T>C | CA365387179 | COL10A1,NT5DC1 | c.529+2472T>C (n.529+2472T>C) c.1699A>G (p.Thr567Ala) c.27+2472T>C | |
| 6 | g.116120417T>G | CA365387180 | COL10A1,NT5DC1 | c.529+2472T>G (n.529+2472T>G) c.1699A>C (p.Thr567Pro) c.27+2472T>G | |
| 6 | g.116120418T>A | CA451899554 | COL10A1,NT5DC1 | c.529+2473T>A (n.529+2473T>A) c.1698A>T (p.Gly566=) c.27+2473T>A | |
| 6 | g.116120418T>C | CA451899556 | COL10A1,NT5DC1 | c.529+2473T>C (n.529+2473T>C) c.1698A>G (p.Gly566=) c.27+2473T>C | |
| 6 | g.116120418T>G | CA451899555 | COL10A1,NT5DC1 | c.529+2473T>G (n.529+2473T>G) c.1698A>C (p.Gly566=) c.27+2473T>G |