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.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= |