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.116120071A= | CA1657093164 | COL10A1,NT5DC1 | c.529+2126A= (n.529+2126A=) c.*2T= (n.*2T=) c.27+2126A= | |
| 6 | g.116120071A>G | CA817679561 | COL10A1,NT5DC1 | c.529+2126A>G (n.529+2126A>G) c.*2T>C (n.*2T>C) c.27+2126A>G | dbSNP gnomAD v4 |
| 6 | g.116120071_116120072insTG | CA2547297765 | COL10A1,NT5DC1 | c.529+2126_529+2127insTG (n.529+2126_529+2127insTG) c.*1_*2insCA (n.*1_*2insCA) c.27+2126_27+2127insTG | |
| 6 | g.116120072C>T | CA2680093578 | COL10A1,NT5DC1 | c.529+2127C>T (n.529+2127C>T) c.*1G>A (n.*1G>A) c.27+2127C>T | gnomAD v4 |
| 6 | g.116120073T>A | CA365386143 | COL10A1,NT5DC1 | c.529+2128T>A (n.529+2128T>A) c.2043A>T (p.Ter681Cys) c.27+2128T>A | |
| 6 | g.116120073T>C | CA365386144 | COL10A1,NT5DC1 | c.529+2128T>C (n.529+2128T>C) c.2043A>G (p.Ter681Trp) c.27+2128T>C | |
| 6 | g.116120073T>G | CA365386145 | COL10A1,NT5DC1 | c.529+2128T>G (n.529+2128T>G) c.2043A>C (p.Ter681Cys) c.27+2128T>G | |
| 6 | g.116120074C>A | CA365386146 | COL10A1,NT5DC1 | c.529+2129C>A (n.529+2129C>A) c.2042G>T (p.Ter681Leu) c.27+2129C>A | |
| 6 | g.116120074C>G | CA365386147 | COL10A1,NT5DC1 | c.529+2129C>G (n.529+2129C>G) c.2042G>C (p.Ter681Ser) c.27+2129C>G | gnomAD v4 |
| 6 | g.116120074C>T | CA451899322 | COL10A1,NT5DC1 | c.529+2129C>T (n.529+2129C>T) c.2042G>A (p.Ter681=) c.27+2129C>T | |
| 6 | g.116120075A= | CA1657093165 | COL10A1,NT5DC1 | c.529+2130A= (n.529+2130A=) c.2041T= (p.Ter681=) c.27+2130A= | |
| 6 | g.116120075A>C | CA365386148 | COL10A1,NT5DC1 | c.529+2130A>C (n.529+2130A>C) c.2041T>G (p.Ter681Gly) c.27+2130A>C | |
| 6 | g.116120075A>G | CA365386149 | COL10A1,NT5DC1 | c.529+2130A>G (n.529+2130A>G) c.2041T>C (p.Ter681Arg) c.27+2130A>G | dbSNP |
| 6 | g.116120075A>T | CA365386150 | COL10A1,NT5DC1 | c.529+2130A>T (n.529+2130A>T) c.2041T>A (p.Ter681Arg) c.27+2130A>T | |
| 6 | g.116120076C>A | CA365386151 | COL10A1,NT5DC1 | c.529+2131C>A (n.529+2131C>A) c.2040G>T (p.Met680Ile) c.27+2131C>A | |
| 6 | g.116120076C= | CA1657093166 | COL10A1,NT5DC1 | c.529+2131C= (n.529+2131C=) c.2040G= (p.Met680=) c.27+2131C= | |
| 6 | g.116120076C>G | CA3968066 | COL10A1,NT5DC1 | c.529+2131C>G (n.529+2131C>G) c.2040G>C (p.Met680Ile) c.27+2131C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120076C>T | CA365386152 | COL10A1,NT5DC1 | c.529+2131C>T (n.529+2131C>T) c.2040G>A (p.Met680Ile) c.27+2131C>T | |
| 6 | g.116120077A= | CA1657093167 | COL10A1,NT5DC1 | c.529+2132A= (n.529+2132A=) c.2039T= (p.Met680=) c.27+2132A= | |
| 6 | g.116120077A>C | CA365386154 | COL10A1,NT5DC1 | c.529+2132A>C (n.529+2132A>C) c.2039T>G (p.Met680Arg) c.27+2132A>C | |
| 6 | g.116120077A>G | CA365386153 | COL10A1,NT5DC1 | c.529+2132A>G (n.529+2132A>G) c.2039T>C (p.Met680Thr) c.27+2132A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120077A>T | CA3968067 | COL10A1,NT5DC1 | c.529+2132A>T (n.529+2132A>T) c.2039T>A (p.Met680Lys) c.27+2132A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.116120078T>A | CA365386155 | COL10A1,NT5DC1 | c.529+2133T>A (n.529+2133T>A) c.2038A>T (p.Met680Leu) c.27+2133T>A | |
| 6 | g.116120078T>C | CA3968068 | COL10A1,NT5DC1 | c.529+2133T>C (n.529+2133T>C) c.2038A>G (p.Met680Val) c.27+2133T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120078T>G | CA365386156 | COL10A1,NT5DC1 | c.529+2133T>G (n.529+2133T>G) c.2038A>C (p.Met680Leu) c.27+2133T>G | |
| 6 | g.116120078T= | CA1657093168 | COL10A1,NT5DC1 | c.529+2133T= (n.529+2133T=) c.2038A= (p.Met680=) c.27+2133T= | |
| 6 | g.116120079T>A | CA451899323 | COL10A1,NT5DC1 | c.529+2134T>A (n.529+2134T>A) c.2037A>T (p.Pro679=) c.27+2134T>A | gnomAD v4 |
| 6 | g.116120079T>C | CA451899324 | COL10A1,NT5DC1 | c.529+2134T>C (n.529+2134T>C) c.2037A>G (p.Pro679=) c.27+2134T>C | |
| 6 | g.116120079T>G | CA3968069 | COL10A1,NT5DC1 | c.529+2134T>G (n.529+2134T>G) c.2037A>C (p.Pro679=) c.27+2134T>G | dbSNP ExAC gnomAD v2 |
| 6 | g.116120079T= | CA1657093169 | COL10A1,NT5DC1 | c.529+2134T= (n.529+2134T=) c.2037A= (p.Pro679=) c.27+2134T= | |
| 6 | g.116120088_116120166dup | CA2680093579 | COL10A1,NT5DC1 | c.529+2143_529+2221dup (n.529+2143_529+2221dup) c.1959_2037dup (p.Met680AlafsTer13) c.27+2143_27+2221dup | gnomAD v4 |
| 6 | g.116120080G>A | CA365386159 | COL10A1,NT5DC1 | c.529+2135G>A (n.529+2135G>A) c.2036C>T (p.Pro679Leu) c.27+2135G>A | |
| 6 | g.116120080G>C | CA365386157 | COL10A1,NT5DC1 | c.529+2135G>C (n.529+2135G>C) c.2036C>G (p.Pro679Arg) c.27+2135G>C | |
| 6 | g.116120080G>T | CA365386158 | COL10A1,NT5DC1 | c.529+2135G>T (n.529+2135G>T) c.2036C>A (p.Pro679Gln) c.27+2135G>T | |
| 6 | g.116120081G>A | CA365386160 | COL10A1,NT5DC1 | c.529+2136G>A (n.529+2136G>A) c.2035C>T (p.Pro679Ser) c.27+2136G>A | gnomAD v4 |
| 6 | g.116120081G>C | CA365386161 | COL10A1,NT5DC1 | c.529+2136G>C (n.529+2136G>C) c.2035C>G (p.Pro679Ala) c.27+2136G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120081G= | CA1657093170 | COL10A1,NT5DC1 | c.529+2136G= (n.529+2136G=) c.2035C= (p.Pro679=) c.27+2136G= | |
| 6 | g.116120081G>T | CA3968070 | COL10A1,NT5DC1 | c.529+2136G>T (n.529+2136G>T) c.2035C>A (p.Pro679Thr) c.27+2136G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120082A>C | CA451899325 | COL10A1,NT5DC1 | c.529+2137A>C (n.529+2137A>C) c.2034T>G (p.Ala678=) c.27+2137A>C | |
| 6 | g.116120082A>G | CA451899326 | COL10A1,NT5DC1 | c.529+2137A>G (n.529+2137A>G) c.2034T>C (p.Ala678=) c.27+2137A>G | |
| 6 | g.116120082A>T | CA451899327 | COL10A1,NT5DC1 | c.529+2137A>T (n.529+2137A>T) c.2034T>A (p.Ala678=) c.27+2137A>T | |
| 6 | g.116120082_116120083insAT | CA2680093580 | COL10A1,NT5DC1 | c.529+2137_529+2138insAT (n.529+2137_529+2138insAT) c.2033_2034insAT (p.Pro679PhefsTer9) c.27+2137_27+2138insAT | gnomAD v4 |
| 6 | g.116120083G>A | CA365386164 | COL10A1,NT5DC1 | c.529+2138G>A (n.529+2138G>A) c.2033C>T (p.Ala678Val) c.27+2138G>A | |
| 6 | g.116120083G>C | CA365386163 | COL10A1,NT5DC1 | c.529+2138G>C (n.529+2138G>C) c.2033C>G (p.Ala678Gly) c.27+2138G>C | |
| 6 | g.116120083G>T | CA365386162 | COL10A1,NT5DC1 | c.529+2138G>T (n.529+2138G>T) c.2033C>A (p.Ala678Asp) c.27+2138G>T | gnomAD v4 |
| 6 | g.116120084C>A | CA365386165 | COL10A1,NT5DC1 | c.529+2139C>A (n.529+2139C>A) c.2032G>T (p.Ala678Ser) c.27+2139C>A | |
| 6 | g.116120084C= | CA1657093171 | COL10A1,NT5DC1 | c.529+2139C= (n.529+2139C=) c.2032G= (p.Ala678=) c.27+2139C= | |
| 6 | g.116120084C>G | CA3968071 | COL10A1,NT5DC1 | c.529+2139C>G (n.529+2139C>G) c.2032G>C (p.Ala678Pro) c.27+2139C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120084C>T | CA365386166 | COL10A1,NT5DC1 | c.529+2139C>T (n.529+2139C>T) c.2032G>A (p.Ala678Thr) c.27+2139C>T | |
| 6 | g.116120085C>A | CA451899328 | COL10A1,NT5DC1 | c.529+2140C>A (n.529+2140C>A) c.2031G>T (p.Val677=) c.27+2140C>A | |
| 6 | g.116120085C>G | CA451899330 | COL10A1,NT5DC1 | c.529+2140C>G (n.529+2140C>G) c.2031G>C (p.Val677=) c.27+2140C>G | gnomAD v4 |
| 6 | g.116120085C>T | CA451899329 | COL10A1,NT5DC1 | c.529+2140C>T (n.529+2140C>T) c.2031G>A (p.Val677=) c.27+2140C>T | |
| 6 | g.116120086A= | CA1657093172 | COL10A1,NT5DC1 | c.529+2141A= (n.529+2141A=) c.2030T= (p.Val677=) c.27+2141A= | |
| 6 | g.116120086A>C | CA365386167 | COL10A1,NT5DC1 | c.529+2141A>C (n.529+2141A>C) c.2030T>G (p.Val677Gly) c.27+2141A>C | |
| 6 | g.116120086A>G | CA365386168 | COL10A1,NT5DC1 | c.529+2141A>G (n.529+2141A>G) c.2030T>C (p.Val677Ala) c.27+2141A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120086A>T | CA365386169 | COL10A1,NT5DC1 | c.529+2141A>T (n.529+2141A>T) c.2030T>A (p.Val677Glu) c.27+2141A>T | |
| 6 | g.116120087del | CA2695206880 | COL10A1,NT5DC1 | c.529+2142del (n.529+2142del) c.2029del (p.Val677TrpfsTer10) c.27+2142del | |
| 6 | g.116120087C>A | CA365386172 | COL10A1,NT5DC1 | c.529+2142C>A (n.529+2142C>A) c.2029G>T (p.Val677Leu) c.27+2142C>A | |
| 6 | g.116120087C>G | CA365386170 | COL10A1,NT5DC1 | c.529+2142C>G (n.529+2142C>G) c.2029G>C (p.Val677Leu) c.27+2142C>G | |
| 6 | g.116120087C>T | CA365386171 | COL10A1,NT5DC1 | c.529+2142C>T (n.529+2142C>T) c.2029G>A (p.Val677Met) c.27+2142C>T | gnomAD v4 |
| 6 | g.116120088T>A | CA451899331 | COL10A1,NT5DC1 | c.529+2143T>A (n.529+2143T>A) c.2028A>T (p.Leu676=) c.27+2143T>A | |
| 6 | g.116120088T>C | CA451899332 | COL10A1,NT5DC1 | c.529+2143T>C (n.529+2143T>C) c.2028A>G (p.Leu676=) c.27+2143T>C | |
| 6 | g.116120088T>G | CA451899333 | COL10A1,NT5DC1 | c.529+2143T>G (n.529+2143T>G) c.2028A>C (p.Leu676=) c.27+2143T>G | |
| 6 | g.116120089A>C | CA365386173 | COL10A1,NT5DC1 | c.529+2144A>C (n.529+2144A>C) c.2027T>G (p.Leu676Arg) c.27+2144A>C | |
| 6 | g.116120089A>G | CA365386174 | COL10A1,NT5DC1 | c.529+2144A>G (n.529+2144A>G) c.2027T>C (p.Leu676Pro) c.27+2144A>G | ClinVar |
| 6 | g.116120089A>T | CA365386175 | COL10A1,NT5DC1 | c.529+2144A>T (n.529+2144A>T) c.2027T>A (p.Leu676Gln) c.27+2144A>T | |
| 6 | g.116120090G>A | CA451899334 | COL10A1,NT5DC1 | c.529+2145G>A (n.529+2145G>A) c.2026C>T (p.Leu676=) c.27+2145G>A | |
| 6 | g.116120090G>C | CA3968072 | COL10A1,NT5DC1 | c.529+2145G>C (n.529+2145G>C) c.2026C>G (p.Leu676Val) c.27+2145G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120090G= | CA1657093173 | COL10A1,NT5DC1 | c.529+2145G= (n.529+2145G=) c.2026C= (p.Leu676=) c.27+2145G= | |
| 6 | g.116120090G>T | CA365386176 | COL10A1,NT5DC1 | c.529+2145G>T (n.529+2145G>T) c.2026C>A (p.Leu676Ile) c.27+2145G>T | |
| 6 | g.116120091G>A | CA451899335 | COL10A1,NT5DC1 | c.529+2146G>A (n.529+2146G>A) c.2025C>T (p.Phe675=) c.27+2146G>A | |
| 6 | g.116120091G>C | CA3968073 | COL10A1,NT5DC1 | c.529+2146G>C (n.529+2146G>C) c.2025C>G (p.Phe675Leu) c.27+2146G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120091G= | CA1657093174 | COL10A1,NT5DC1 | c.529+2146G= (n.529+2146G=) c.2025C= (p.Phe675=) c.27+2146G= | |
| 6 | g.116120091G>T | CA3968074 | COL10A1,NT5DC1 | c.529+2146G>T (n.529+2146G>T) c.2025C>A (p.Phe675Leu) c.27+2146G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120092A>C | CA365386177 | COL10A1,NT5DC1 | c.529+2147A>C (n.529+2147A>C) c.2024T>G (p.Phe675Cys) c.27+2147A>C | |
| 6 | g.116120092A>G | CA365386178 | COL10A1,NT5DC1 | c.529+2147A>G (n.529+2147A>G) c.2024T>C (p.Phe675Ser) c.27+2147A>G | |
| 6 | g.116120092A>T | CA365386179 | COL10A1,NT5DC1 | c.529+2147A>T (n.529+2147A>T) c.2024T>A (p.Phe675Tyr) c.27+2147A>T | |
| 6 | g.116120093A>C | CA365386180 | COL10A1,NT5DC1 | c.529+2148A>C (n.529+2148A>C) c.2023T>G (p.Phe675Val) c.27+2148A>C | |
| 6 | g.116120093A>G | CA365386181 | COL10A1,NT5DC1 | c.529+2148A>G (n.529+2148A>G) c.2023T>C (p.Phe675Leu) c.27+2148A>G | |
| 6 | g.116120093A>T | CA365386182 | COL10A1,NT5DC1 | c.529+2148A>T (n.529+2148A>T) c.2023T>A (p.Phe675Ile) c.27+2148A>T | |
| 6 | g.116120094T>A | CA451899338 | COL10A1,NT5DC1 | c.529+2149T>A (n.529+2149T>A) c.2022A>T (p.Gly674=) c.27+2149T>A | |
| 6 | g.116120094T>C | CA451899336 | COL10A1,NT5DC1 | c.529+2149T>C (n.529+2149T>C) c.2022A>G (p.Gly674=) c.27+2149T>C | gnomAD v4 |
| 6 | g.116120094T>G | CA451899337 | COL10A1,NT5DC1 | c.529+2149T>G (n.529+2149T>G) c.2022A>C (p.Gly674=) c.27+2149T>G | |
| 6 | g.116120095C>A | CA365386183 | COL10A1,NT5DC1 | c.529+2150C>A (n.529+2150C>A) c.2021G>T (p.Gly674Val) c.27+2150C>A | |
| 6 | g.116120095C= | CA1657093175 | COL10A1,NT5DC1 | c.529+2150C= (n.529+2150C=) c.2021G= (p.Gly674=) c.27+2150C= | |
| 6 | g.116120095C>G | CA365386185 | COL10A1,NT5DC1 | c.529+2150C>G (n.529+2150C>G) c.2021G>C (p.Gly674Ala) c.27+2150C>G | |
| 6 | g.116120095C>T | CA365386184 | COL10A1,NT5DC1 | c.529+2150C>T (n.529+2150C>T) c.2021G>A (p.Gly674Glu) c.27+2150C>T | ClinVar dbSNP |
| 6 | g.116120096C>A | CA365386186 | COL10A1,NT5DC1 | c.529+2151C>A (n.529+2151C>A) c.2020G>T (p.Gly674Ter) c.27+2151C>A | |
| 6 | g.116120096C>G | CA365386187 | COL10A1,NT5DC1 | c.529+2151C>G (n.529+2151C>G) c.2020G>C (p.Gly674Arg) c.27+2151C>G | |
| 6 | g.116120096C>T | CA365386188 | COL10A1,NT5DC1 | c.529+2151C>T (n.529+2151C>T) c.2020G>A (p.Gly674Arg) c.27+2151C>T | |
| 6 | g.116120097T>A | CA451899339 | COL10A1,NT5DC1 | c.529+2152T>A (n.529+2152T>A) c.2019A>T (p.Ser673=) c.27+2152T>A | |
| 6 | g.116120097T>C | CA451899340 | COL10A1,NT5DC1 | c.529+2152T>C (n.529+2152T>C) c.2019A>G (p.Ser673=) c.27+2152T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120097T>G | CA451899341 | COL10A1,NT5DC1 | c.529+2152T>G (n.529+2152T>G) c.2019A>C (p.Ser673=) c.27+2152T>G | |
| 6 | g.116120097T= | CA1657093176 | COL10A1,NT5DC1 | c.529+2152T= (n.529+2152T=) c.2019A= (p.Ser673=) c.27+2152T= | |
| 6 | g.116120098G>A | CA3968075 | COL10A1,NT5DC1 | c.529+2153G>A (n.529+2153G>A) c.2018C>T (p.Ser673Leu) c.27+2153G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120098G>C | CA365386189 | COL10A1,NT5DC1 | c.529+2153G>C (n.529+2153G>C) c.2018C>G (p.Ser673Ter) c.27+2153G>C | |
| 6 | g.116120098G= | CA1657093177 | COL10A1,NT5DC1 | c.529+2153G= (n.529+2153G=) c.2018C= (p.Ser673=) c.27+2153G= | |
| 6 | g.116120098G>T | CA365386190 | COL10A1,NT5DC1 | c.529+2153G>T (n.529+2153G>T) c.2018C>A (p.Ser673Ter) c.27+2153G>T | |
| 6 | g.116120100_116120101del | CA2680093581 | COL10A1,NT5DC1 | c.529+2155_529+2156del (n.529+2155_529+2156del) c.2017_2018del (p.Ser673ArgfsTer?) c.27+2155_27+2156del | gnomAD v4 |
| 6 | g.116120101_116120106del | CA645555754 | COL10A1,NT5DC1 | c.529+2156_529+2161del (n.529+2156_529+2161del) c.2013_2018del (p.Phe672_Ser673del) c.27+2156_27+2161del | COSMIC |
| 6 | g.116120099A>C | CA365386191 | COL10A1,NT5DC1 | c.529+2154A>C (n.529+2154A>C) c.2017T>G (p.Ser673Ala) c.27+2154A>C | |
| 6 | g.116120099A>G | CA365386192 | COL10A1,NT5DC1 | c.529+2154A>G (n.529+2154A>G) c.2017T>C (p.Ser673Pro) c.27+2154A>G | ClinVar dbSNP |
| 6 | g.116120099A>T | CA365386193 | COL10A1,NT5DC1 | c.529+2154A>T (n.529+2154A>T) c.2017T>A (p.Ser673Thr) c.27+2154A>T | |
| 6 | g.116120100G>A | CA451899342 | COL10A1,NT5DC1 | c.529+2155G>A (n.529+2155G>A) c.2016C>T (p.Phe672=) c.27+2155G>A | |
| 6 | g.116120100G>C | CA365386194 | COL10A1,NT5DC1 | c.529+2155G>C (n.529+2155G>C) c.2016C>G (p.Phe672Leu) c.27+2155G>C | |
| 6 | g.116120100G>T | CA365386195 | COL10A1,NT5DC1 | c.529+2155G>T (n.529+2155G>T) c.2016C>A (p.Phe672Leu) c.27+2155G>T | |
| 6 | g.116120101A>C | CA365386198 | COL10A1,NT5DC1 | c.529+2156A>C (n.529+2156A>C) c.2015T>G (p.Phe672Cys) c.27+2156A>C | |
| 6 | g.116120101A>G | CA365386197 | COL10A1,NT5DC1 | c.529+2156A>G (n.529+2156A>G) c.2015T>C (p.Phe672Ser) c.27+2156A>G | |
| 6 | g.116120101A>T | CA365386196 | COL10A1,NT5DC1 | c.529+2156A>T (n.529+2156A>T) c.2015T>A (p.Phe672Tyr) c.27+2156A>T | |
| 6 | g.116120102A= | CA1657093178 | COL10A1,NT5DC1 | c.529+2157A= (n.529+2157A=) c.2014T= (p.Phe672=) c.27+2157A= | |
| 6 | g.116120102A>C | CA365386199 | COL10A1,NT5DC1 | c.529+2157A>C (n.529+2157A>C) c.2014T>G (p.Phe672Val) c.27+2157A>C | ClinVar dbSNP |
| 6 | g.116120102A>G | CA365386200 | COL10A1,NT5DC1 | c.529+2157A>G (n.529+2157A>G) c.2014T>C (p.Phe672Leu) c.27+2157A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120102A>T | CA365386201 | COL10A1,NT5DC1 | c.529+2157A>T (n.529+2157A>T) c.2014T>A (p.Phe672Ile) c.27+2157A>T | |
| 6 | g.116120103A>C | CA451899343 | COL10A1,NT5DC1 | c.529+2158A>C (n.529+2158A>C) c.2013T>G (p.Ser671=) c.27+2158A>C | |
| 6 | g.116120103A>G | CA451899344 | COL10A1,NT5DC1 | c.529+2158A>G (n.529+2158A>G) c.2013T>C (p.Ser671=) c.27+2158A>G | gnomAD v4 |
| 6 | g.116120103A>T | CA451899345 | COL10A1,NT5DC1 | c.529+2158A>T (n.529+2158A>T) c.2013T>A (p.Ser671=) c.27+2158A>T | |
| 6 | g.116120105_116120106del | CA2680093582 | COL10A1,NT5DC1 | c.529+2160_529+2161del (n.529+2160_529+2161del) c.2012_2013del (p.Ser671PhefsTer?) c.27+2160_27+2161del | gnomAD v4 |
| 6 | g.116120104G>A | CA365386202 | COL10A1,NT5DC1 | c.529+2159G>A (n.529+2159G>A) c.2012C>T (p.Ser671Phe) c.27+2159G>A | |
| 6 | g.116120104G>C | CA365386203 | COL10A1,NT5DC1 | c.529+2159G>C (n.529+2159G>C) c.2012C>G (p.Ser671Cys) c.27+2159G>C | |
| 6 | g.116120104G>T | CA365386204 | COL10A1,NT5DC1 | c.529+2159G>T (n.529+2159G>T) c.2012C>A (p.Ser671Tyr) c.27+2159G>T | |
| 6 | g.116120105A= | CA1657093179 | COL10A1,NT5DC1 | c.529+2160A= (n.529+2160A=) c.2011T= (p.Ser671=) c.27+2160A= | |
| 6 | g.116120105A>C | CA365386205 | COL10A1,NT5DC1 | c.529+2160A>C (n.529+2160A>C) c.2011T>G (p.Ser671Ala) c.27+2160A>C | gnomAD v4 |
| 6 | g.116120105A>G | CA127220 | COL10A1,NT5DC1 | c.529+2160A>G (n.529+2160A>G) c.2011T>C (p.Ser671Pro) c.27+2160A>G | ClinVar dbSNP |
| 6 | g.116120105A>T | CA365386206 | COL10A1,NT5DC1 | c.529+2160A>T (n.529+2160A>T) c.2011T>A (p.Ser671Thr) c.27+2160A>T | |
| 6 | g.116120106G>A | CA451899346 | COL10A1,NT5DC1 | c.529+2161G>A (n.529+2161G>A) c.2010C>T (p.Ser670=) c.27+2161G>A | |
| 6 | g.116120106G>C | CA451899347 | COL10A1,NT5DC1 | c.529+2161G>C (n.529+2161G>C) c.2010C>G (p.Ser670=) c.27+2161G>C | |
| 6 | g.116120106G>T | CA451899348 | COL10A1,NT5DC1 | c.529+2161G>T (n.529+2161G>T) c.2010C>A (p.Ser670=) c.27+2161G>T | |
| 6 | g.116120107dup | CA2499218042 | COL10A1,NT5DC1 | c.529+2162dup (n.529+2162dup) c.2010dup (p.Ser671LeufsTer?) c.27+2162dup | ClinVar dbSNP |
| 6 | g.116120107G>A | CA365386207 | COL10A1,NT5DC1 | c.529+2162G>A (n.529+2162G>A) c.2009C>T (p.Ser670Phe) c.27+2162G>A | |
| 6 | g.116120107G>C | CA365386208 | COL10A1,NT5DC1 | c.529+2162G>C (n.529+2162G>C) c.2009C>G (p.Ser670Cys) c.27+2162G>C | |
| 6 | g.116120107G>T | CA365386209 | COL10A1,NT5DC1 | c.529+2162G>T (n.529+2162G>T) c.2009C>A (p.Ser670Tyr) c.27+2162G>T | |
| 6 | g.116120108A>C | CA365386212 | COL10A1,NT5DC1 | c.529+2163A>C (n.529+2163A>C) c.2008T>G (p.Ser670Ala) c.27+2163A>C | |
| 6 | g.116120108A>G | CA365386211 | COL10A1,NT5DC1 | c.529+2163A>G (n.529+2163A>G) c.2008T>C (p.Ser670Pro) c.27+2163A>G | COSMIC |
| 6 | g.116120108A>T | CA365386210 | COL10A1,NT5DC1 | c.529+2163A>T (n.529+2163A>T) c.2008T>A (p.Ser670Thr) c.27+2163A>T | |
| 6 | g.116120109G>A | CA3968076 | COL10A1,NT5DC1 | c.529+2164G>A (n.529+2164G>A) c.2007C>T (p.His669=) c.27+2164G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120109G>C | CA365386214 | COL10A1,NT5DC1 | c.529+2164G>C (n.529+2164G>C) c.2007C>G (p.His669Gln) c.27+2164G>C | |
| 6 | g.116120109G= | CA1657093180 | COL10A1,NT5DC1 | c.529+2164G= (n.529+2164G=) c.2007C= (p.His669=) c.27+2164G= | |
| 6 | g.116120109G>T | CA365386213 | COL10A1,NT5DC1 | c.529+2164G>T (n.529+2164G>T) c.2007C>A (p.His669Gln) c.27+2164G>T | |
| 6 | g.116120110T>A | CA365386215 | COL10A1,NT5DC1 | c.529+2165T>A (n.529+2165T>A) c.2006A>T (p.His669Leu) c.27+2165T>A | |
| 6 | g.116120110T>C | CA365386216 | COL10A1,NT5DC1 | c.529+2165T>C (n.529+2165T>C) c.2006A>G (p.His669Arg) c.27+2165T>C | dbSNP gnomAD v4 |
| 6 | g.116120110T>G | CA365386217 | COL10A1,NT5DC1 | c.529+2165T>G (n.529+2165T>G) c.2006A>C (p.His669Pro) c.27+2165T>G | |
| 6 | g.116120110T= | CA1657093181 | COL10A1,NT5DC1 | c.529+2165T= (n.529+2165T=) c.2006A= (p.His669=) c.27+2165T= | |
| 6 | g.116120111G>A | CA3968077 | COL10A1,NT5DC1 | c.529+2166G>A (n.529+2166G>A) c.2005C>T (p.His669Tyr) c.27+2166G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120111G>C | CA365386218 | COL10A1,NT5DC1 | c.529+2166G>C (n.529+2166G>C) c.2005C>G (p.His669Asp) c.27+2166G>C | |
| 6 | g.116120111G= | CA1657093182 | COL10A1,NT5DC1 | c.529+2166G= (n.529+2166G=) c.2005C= (p.His669=) c.27+2166G= | |
| 6 | g.116120111G>T | CA365386219 | COL10A1,NT5DC1 | c.529+2166G>T (n.529+2166G>T) c.2005C>A (p.His669Asn) c.27+2166G>T | |
| 6 | g.116120112del | CA2695206881 | COL10A1,NT5DC1 | c.529+2167del (n.529+2167del) c.2005del (p.His669ThrfsTer8) c.27+2167del | |
| 6 | g.116120112G>A | CA451899349 | COL10A1,NT5DC1 | c.529+2167G>A (n.529+2167G>A) c.2004C>T (p.Val668=) c.27+2167G>A | dbSNP |
| 6 | g.116120112G>C | CA451899350 | COL10A1,NT5DC1 | c.529+2167G>C (n.529+2167G>C) c.2004C>G (p.Val668=) c.27+2167G>C | |
| 6 | g.116120112G= | CA1657093183 | COL10A1,NT5DC1 | c.529+2167G= (n.529+2167G=) c.2004C= (p.Val668=) c.27+2167G= | |
| 6 | g.116120112G>T | CA451899351 | COL10A1,NT5DC1 | c.529+2167G>T (n.529+2167G>T) c.2004C>A (p.Val668=) c.27+2167G>T | gnomAD v4 |
| 6 | g.116120113A= | CA1657093184 | COL10A1,NT5DC1 | c.529+2168A= (n.529+2168A=) c.2003T= (p.Val668=) c.27+2168A= | |
| 6 | g.116120113A>C | CA365386220 | COL10A1,NT5DC1 | c.529+2168A>C (n.529+2168A>C) c.2003T>G (p.Val668Gly) c.27+2168A>C | |
| 6 | g.116120113A>G | CA3968078 | COL10A1,NT5DC1 | c.529+2168A>G (n.529+2168A>G) c.2003T>C (p.Val668Ala) c.27+2168A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120113A>T | CA365386221 | COL10A1,NT5DC1 | c.529+2168A>T (n.529+2168A>T) c.2003T>A (p.Val668Asp) c.27+2168A>T | |
| 6 | g.116120114C>A | CA365386222 | COL10A1,NT5DC1 | c.529+2169C>A (n.529+2169C>A) c.2002G>T (p.Val668Phe) c.27+2169C>A | |
| 6 | g.116120114C= | CA1657093185 | COL10A1,NT5DC1 | c.529+2169C= (n.529+2169C=) c.2002G= (p.Val668=) c.27+2169C= | |
| 6 | g.116120114C>G | CA365386223 | COL10A1,NT5DC1 | c.529+2169C>G (n.529+2169C>G) c.2002G>C (p.Val668Leu) c.27+2169C>G | |
| 6 | g.116120114C>T | CA365386224 | COL10A1,NT5DC1 | c.529+2169C>T (n.529+2169C>T) c.2002G>A (p.Val668Ile) c.27+2169C>T | dbSNP |
| 6 | g.116120116_116120121del | CA645555755 | COL10A1,NT5DC1 | c.529+2171_529+2176del (n.529+2171_529+2176del) c.1997_2002del (p.Glu666_Tyr667del) c.27+2171_27+2176del | COSMIC |
| 6 | g.116120115A>C | CA365386225 | COL10A1,NT5DC1 | c.529+2170A>C (n.529+2170A>C) c.2001T>G (p.Tyr667Ter) c.27+2170A>C | |
| 6 | g.116120115A>G | CA451899352 | COL10A1,NT5DC1 | c.529+2170A>G (n.529+2170A>G) c.2001T>C (p.Tyr667=) c.27+2170A>G | gnomAD v4 |
| 6 | g.116120115A>T | CA365386226 | COL10A1,NT5DC1 | c.529+2170A>T (n.529+2170A>T) c.2001T>A (p.Tyr667Ter) c.27+2170A>T | |
| 6 | g.116120116T>A | CA365386227 | COL10A1,NT5DC1 | c.529+2171T>A (n.529+2171T>A) c.2000A>T (p.Tyr667Phe) c.27+2171T>A | |
| 6 | g.116120116T>C | CA365386228 | COL10A1,NT5DC1 | c.529+2171T>C (n.529+2171T>C) c.2000A>G (p.Tyr667Cys) c.27+2171T>C | |
| 6 | g.116120116T>G | CA365386229 | COL10A1,NT5DC1 | c.529+2171T>G (n.529+2171T>G) c.2000A>C (p.Tyr667Ser) c.27+2171T>G | |
| 6 | g.116120117A>C | CA365386230 | COL10A1,NT5DC1 | c.529+2172A>C (n.529+2172A>C) c.1999T>G (p.Tyr667Asp) c.27+2172A>C | |
| 6 | g.116120117A>G | CA365386231 | COL10A1,NT5DC1 | c.529+2172A>G (n.529+2172A>G) c.1999T>C (p.Tyr667His) c.27+2172A>G | |
| 6 | g.116120117A>T | CA365386232 | COL10A1,NT5DC1 | c.529+2172A>T (n.529+2172A>T) c.1999T>A (p.Tyr667Asn) c.27+2172A>T | |
| 6 | g.116120118_116120121del | CA2695206882 | COL10A1,NT5DC1 | c.529+2173_529+2176del (n.529+2173_529+2176del) c.1996_1999del (p.Glu666MetfsTer10) c.27+2173_27+2176del | |
| 6 | g.116120118C>A | CA365386233 | COL10A1,NT5DC1 | c.529+2173C>A (n.529+2173C>A) c.1998G>T (p.Glu666Asp) c.27+2173C>A | |
| 6 | g.116120118C>G | CA365386234 | COL10A1,NT5DC1 | c.529+2173C>G (n.529+2173C>G) c.1998G>C (p.Glu666Asp) c.27+2173C>G | |
| 6 | g.116120118C>T | CA451899353 | COL10A1,NT5DC1 | c.529+2173C>T (n.529+2173C>T) c.1998G>A (p.Glu666=) c.27+2173C>T | |
| 6 | g.116120119T>A | CA365386235 | COL10A1,NT5DC1 | c.529+2174T>A (n.529+2174T>A) c.1997A>T (p.Glu666Val) c.27+2174T>A | |
| 6 | g.116120119T>C | CA365386236 | COL10A1,NT5DC1 | c.529+2174T>C (n.529+2174T>C) c.1997A>G (p.Glu666Gly) c.27+2174T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.116120119T>G | CA365386237 | COL10A1,NT5DC1 | c.529+2174T>G (n.529+2174T>G) c.1997A>C (p.Glu666Ala) c.27+2174T>G | |
| 6 | g.116120119T= | CA1657093186 | COL10A1,NT5DC1 | c.529+2174T= (n.529+2174T=) c.1997A= (p.Glu666=) c.27+2174T= | |
| 6 | g.116120120C>A | CA365386239 | COL10A1,NT5DC1 | c.529+2175C>A (n.529+2175C>A) c.1996G>T (p.Glu666Ter) c.27+2175C>A | ClinVar dbSNP |
| 6 | g.116120120C>G | CA365386240 | COL10A1,NT5DC1 | c.529+2175C>G (n.529+2175C>G) c.1996G>C (p.Glu666Gln) c.27+2175C>G | dbSNP |
| 6 | g.116120120C>T | CA365386238 | COL10A1,NT5DC1 | c.529+2175C>T (n.529+2175C>T) c.1996G>A (p.Glu666Lys) c.27+2175C>T | |
| 6 | g.116120120_116120122delinsCAG | CA1657093187 | COL10A1,NT5DC1 | c.529+2175_529+2177delinsCAG (n.529+2175_529+2177delinsCAG) c.1994_1996delinsCTG (p.Ser665=) c.27+2175_27+2177delinsCAG | |
| 6 | g.116120121A= | CA1657093188 | COL10A1,NT5DC1 | c.529+2176A= (n.529+2176A=) c.1995T= (p.Ser665=) c.27+2176A= | |
| 6 | g.116120121A>C | CA451899354 | COL10A1,NT5DC1 | c.529+2176A>C (n.529+2176A>C) c.1995T>G (p.Ser665=) c.27+2176A>C | |
| 6 | g.116120121A>G | CA451899355 | COL10A1,NT5DC1 | c.529+2176A>G (n.529+2176A>G) c.1995T>C (p.Ser665=) c.27+2176A>G | gnomAD v4 |
| 6 | g.116120121A>T | CA3968079 | COL10A1,NT5DC1 | c.529+2176A>T (n.529+2176A>T) c.1995T>A (p.Ser665=) c.27+2176A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120121dup | CA2580074792 | COL10A1,NT5DC1 | c.529+2176dup (n.529+2176dup) c.1995dup (p.Glu666Ter) c.27+2176dup | ClinVar |
| 6 | g.116120123_116120124del | CA1657093189 | COL10A1,NT5DC1 | c.529+2178_529+2179del (n.529+2178_529+2179del) c.1994_1995del (p.Ser665Ter) c.27+2178_27+2179del | ClinVar dbSNP |
| 6 | g.116120122G>A | CA3968080 | COL10A1,NT5DC1 | c.529+2177G>A (n.529+2177G>A) c.1994C>T (p.Ser665Phe) c.27+2177G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120122G>C | CA365386241 | COL10A1,NT5DC1 | c.529+2177G>C (n.529+2177G>C) c.1994C>G (p.Ser665Cys) c.27+2177G>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120122G= | CA1657093190 | COL10A1,NT5DC1 | c.529+2177G= (n.529+2177G=) c.1994C= (p.Ser665=) c.27+2177G= | |
| 6 | g.116120122G>T | CA365386242 | COL10A1,NT5DC1 | c.529+2177G>T (n.529+2177G>T) c.1994C>A (p.Ser665Tyr) c.27+2177G>T | |
| 6 | g.116120123A>C | CA365386243 | COL10A1,NT5DC1 | c.529+2178A>C (n.529+2178A>C) c.1993T>G (p.Ser665Ala) c.27+2178A>C | |
| 6 | g.116120123A>G | CA365386244 | COL10A1,NT5DC1 | c.529+2178A>G (n.529+2178A>G) c.1993T>C (p.Ser665Pro) c.27+2178A>G | |
| 6 | g.116120123A>T | CA365386245 | COL10A1,NT5DC1 | c.529+2178A>T (n.529+2178A>T) c.1993T>A (p.Ser665Thr) c.27+2178A>T | |
| 6 | g.116120124G>A | CA451899356 | COL10A1,NT5DC1 | c.529+2179G>A (n.529+2179G>A) c.1992C>T (p.Ser664=) c.27+2179G>A | dbSNP |
| 6 | g.116120124G>C | CA451899357 | COL10A1,NT5DC1 | c.529+2179G>C (n.529+2179G>C) c.1992C>G (p.Ser664=) c.27+2179G>C | |
| 6 | g.116120124G= | CA1657093191 | COL10A1,NT5DC1 | c.529+2179G= (n.529+2179G=) c.1992C= (p.Ser664=) c.27+2179G= | |
| 6 | g.116120124G>T | CA451899358 | COL10A1,NT5DC1 | c.529+2179G>T (n.529+2179G>T) c.1992C>A (p.Ser664=) c.27+2179G>T | |
| 6 | g.116120125G>A | CA365386246 | COL10A1,NT5DC1 | c.529+2180G>A (n.529+2180G>A) c.1991C>T (p.Ser664Phe) c.27+2180G>A | |
| 6 | g.116120125G>C | CA365386247 | COL10A1,NT5DC1 | c.529+2180G>C (n.529+2180G>C) c.1991C>G (p.Ser664Cys) c.27+2180G>C | |
| 6 | g.116120125G>T | CA365386248 | COL10A1,NT5DC1 | c.529+2180G>T (n.529+2180G>T) c.1991C>A (p.Ser664Tyr) c.27+2180G>T | COSMIC |
| 6 | g.116120126_116120127del | CA2739266045 | COL10A1,NT5DC1 | c.529+2181_529+2182del (n.529+2181_529+2182del) c.1990_1991del (p.Ser664LeufsTer2) c.27+2181_27+2182del | ClinVar |
| 6 | g.116120126A= | CA1657093192 | COL10A1,NT5DC1 | c.529+2181A= (n.529+2181A=) c.1990T= (p.Ser664=) c.27+2181A= | |
| 6 | g.116120126A>C | CA365386249 | COL10A1,NT5DC1 | c.529+2181A>C (n.529+2181A>C) c.1990T>G (p.Ser664Ala) c.27+2181A>C | |
| 6 | g.116120126A>G | CA3968081 | COL10A1,NT5DC1 | c.529+2181A>G (n.529+2181A>G) c.1990T>C (p.Ser664Pro) c.27+2181A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120126A>T | CA365386250 | COL10A1,NT5DC1 | c.529+2181A>T (n.529+2181A>T) c.1990T>A (p.Ser664Thr) c.27+2181A>T | |
| 6 | g.116120127G>A | CA451899359 | COL10A1,NT5DC1 | c.529+2182G>A (n.529+2182G>A) c.1989C>T (p.Tyr663=) c.27+2182G>A | |
| 6 | g.116120127G>C | CA365386252 | COL10A1,NT5DC1 | c.529+2182G>C (n.529+2182G>C) c.1989C>G (p.Tyr663Ter) c.27+2182G>C | ClinVar dbSNP |
| 6 | g.116120127G>T | CA365386251 | COL10A1,NT5DC1 | c.529+2182G>T (n.529+2182G>T) c.1989C>A (p.Tyr663Ter) c.27+2182G>T | ClinVar dbSNP |
| 6 | g.116120128T>A | CA365386253 | COL10A1,NT5DC1 | c.529+2183T>A (n.529+2183T>A) c.1988A>T (p.Tyr663Phe) c.27+2183T>A | |
| 6 | g.116120128T>C | CA365386254 | COL10A1,NT5DC1 | c.529+2183T>C (n.529+2183T>C) c.1988A>G (p.Tyr663Cys) c.27+2183T>C | |
| 6 | g.116120128T>G | CA365386255 | COL10A1,NT5DC1 | c.529+2183T>G (n.529+2183T>G) c.1988A>C (p.Tyr663Ser) c.27+2183T>G | |
| 6 | g.116120129A>C | CA365386256 | COL10A1,NT5DC1 | c.529+2184A>C (n.529+2184A>C) c.1987T>G (p.Tyr663Asp) c.27+2184A>C | |
| 6 | g.116120129A>G | CA365386257 | COL10A1,NT5DC1 | c.529+2184A>G (n.529+2184A>G) c.1987T>C (p.Tyr663His) c.27+2184A>G | COSMIC |
| 6 | g.116120129A>T | CA365386258 | COL10A1,NT5DC1 | c.529+2184A>T (n.529+2184A>T) c.1987T>A (p.Tyr663Asn) c.27+2184A>T | |
| 6 | g.116120130T>A | CA451899360 | COL10A1,NT5DC1 | c.529+2185T>A (n.529+2185T>A) c.1986A>T (p.Leu662=) c.27+2185T>A | |
| 6 | g.116120130T>C | CA145908120 | COL10A1,NT5DC1 | c.529+2185T>C (n.529+2185T>C) c.1986A>G (p.Leu662=) c.27+2185T>C | dbSNP gnomAD v4 |
| 6 | g.116120130T>G | CA451899361 | COL10A1,NT5DC1 | c.529+2185T>G (n.529+2185T>G) c.1986A>C (p.Leu662=) c.27+2185T>G | |
| 6 | g.116120130T= | CA1657093193 | COL10A1,NT5DC1 | c.529+2185T= (n.529+2185T=) c.1986A= (p.Leu662=) c.27+2185T= | |
| 6 | g.116120131A>C | CA365386259 | COL10A1,NT5DC1 | c.529+2186A>C (n.529+2186A>C) c.1985T>G (p.Leu662Arg) c.27+2186A>C | |
| 6 | g.116120131A>G | CA365386260 | COL10A1,NT5DC1 | c.529+2186A>G (n.529+2186A>G) c.1985T>C (p.Leu662Pro) c.27+2186A>G | |
| 6 | g.116120131A>T | CA365386261 | COL10A1,NT5DC1 | c.529+2186A>T (n.529+2186A>T) c.1985T>A (p.Leu662Gln) c.27+2186A>T | |
| 6 | g.116120132G>A | CA451899362 | COL10A1,NT5DC1 | c.529+2187G>A (n.529+2187G>A) c.1984C>T (p.Leu662=) c.27+2187G>A | gnomAD v4 |
| 6 | g.116120132G>C | CA365386262 | COL10A1,NT5DC1 | c.529+2187G>C (n.529+2187G>C) c.1984C>G (p.Leu662Val) c.27+2187G>C | |
| 6 | g.116120132G= | CA1657093194 | COL10A1,NT5DC1 | c.529+2187G= (n.529+2187G=) c.1984C= (p.Leu662=) c.27+2187G= | |
| 6 | g.116120132G>T | CA3968082 | COL10A1,NT5DC1 | c.529+2187G>T (n.529+2187G>T) c.1984C>A (p.Leu662Ile) c.27+2187G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120133G>A | CA451899363 | COL10A1,NT5DC1 | c.529+2188G>A (n.529+2188G>A) c.1983C>T (p.Gly661=) c.27+2188G>A | |
| 6 | g.116120133G>C | CA3968083 | COL10A1,NT5DC1 | c.529+2188G>C (n.529+2188G>C) c.1983C>G (p.Gly661=) c.27+2188G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120133G= | CA1657093195 | COL10A1,NT5DC1 | c.529+2188G= (n.529+2188G=) c.1983C= (p.Gly661=) c.27+2188G= | |
| 6 | g.116120133G>T | CA451899364 | COL10A1,NT5DC1 | c.529+2188G>T (n.529+2188G>T) c.1983C>A (p.Gly661=) c.27+2188G>T | |
| 6 | g.116120134C>A | CA365386265 | COL10A1,NT5DC1 | c.529+2189C>A (n.529+2189C>A) c.1982G>T (p.Gly661Val) c.27+2189C>A | |
| 6 | g.116120134C>G | CA365386264 | COL10A1,NT5DC1 | c.529+2189C>G (n.529+2189C>G) c.1982G>C (p.Gly661Ala) c.27+2189C>G | |
| 6 | g.116120134C>T | CA365386263 | COL10A1,NT5DC1 | c.529+2189C>T (n.529+2189C>T) c.1982G>A (p.Gly661Asp) c.27+2189C>T | |
| 6 | g.116120135C>A | CA365386266 | COL10A1,NT5DC1 | c.529+2190C>A (n.529+2190C>A) c.1981G>T (p.Gly661Cys) c.27+2190C>A | |
| 6 | g.116120135C>G | CA365386268 | COL10A1,NT5DC1 | c.529+2190C>G (n.529+2190C>G) c.1981G>C (p.Gly661Arg) c.27+2190C>G | |
| 6 | g.116120135C>T | CA365386267 | COL10A1,NT5DC1 | c.529+2190C>T (n.529+2190C>T) c.1981G>A (p.Gly661Ser) c.27+2190C>T | |
| 6 | g.116120136A= | CA1657093196 | COL10A1,NT5DC1 | c.529+2191A= (n.529+2191A=) c.1980T= (p.Asn660=) c.27+2191A= | |
| 6 | g.116120136A>C | CA365386269 | COL10A1,NT5DC1 | c.529+2191A>C (n.529+2191A>C) c.1980T>G (p.Asn660Lys) c.27+2191A>C | |
| 6 | g.116120136A>G | CA451899365 | COL10A1,NT5DC1 | c.529+2191A>G (n.529+2191A>G) c.1980T>C (p.Asn660=) c.27+2191A>G | dbSNP gnomAD v4 |
| 6 | g.116120136A>T | CA365386270 | COL10A1,NT5DC1 | c.529+2191A>T (n.529+2191A>T) c.1980T>A (p.Asn660Lys) c.27+2191A>T | |
| 6 | g.116120137T>A | CA365386271 | COL10A1,NT5DC1 | c.529+2192T>A (n.529+2192T>A) c.1979A>T (p.Asn660Ile) c.27+2192T>A | |
| 6 | g.116120137T>C | CA365386272 | COL10A1,NT5DC1 | c.529+2192T>C (n.529+2192T>C) c.1979A>G (p.Asn660Ser) c.27+2192T>C | |
| 6 | g.116120137T>G | CA365386273 | COL10A1,NT5DC1 | c.529+2192T>G (n.529+2192T>G) c.1979A>C (p.Asn660Thr) c.27+2192T>G | |
| 6 | g.116120138T>A | CA365386274 | COL10A1,NT5DC1 | c.529+2193T>A (n.529+2193T>A) c.1978A>T (p.Asn660Tyr) c.27+2193T>A | |
| 6 | g.116120138T>C | CA365386275 | COL10A1,NT5DC1 | c.529+2193T>C (n.529+2193T>C) c.1978A>G (p.Asn660Asp) c.27+2193T>C | |
| 6 | g.116120138T>G | CA365386276 | COL10A1,NT5DC1 | c.529+2193T>G (n.529+2193T>G) c.1978A>C (p.Asn660His) c.27+2193T>G | |
| 6 | g.116120139T>A | CA451899368 | COL10A1,NT5DC1 | c.529+2194T>A (n.529+2194T>A) c.1977A>T (p.Ser659=) c.27+2194T>A | |
| 6 | g.116120139T>C | CA451899367 | COL10A1,NT5DC1 | c.529+2194T>C (n.529+2194T>C) c.1977A>G (p.Ser659=) c.27+2194T>C | |
| 6 | g.116120139T>G | CA451899366 | COL10A1,NT5DC1 | c.529+2194T>G (n.529+2194T>G) c.1977A>C (p.Ser659=) c.27+2194T>G | |
| 6 | g.116120140G>A | CA365386277 | COL10A1,NT5DC1 | c.529+2195G>A (n.529+2195G>A) c.1976C>T (p.Ser659Leu) c.27+2195G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120140G>C | CA365386278 | COL10A1,NT5DC1 | c.529+2195G>C (n.529+2195G>C) c.1976C>G (p.Ser659Ter) c.27+2195G>C | ClinVar dbSNP |
| 6 | g.116120140G= | CA1657093197 | COL10A1,NT5DC1 | c.529+2195G= (n.529+2195G=) c.1976C= (p.Ser659=) c.27+2195G= | |
| 6 | g.116120140G>T | CA365386279 | COL10A1,NT5DC1 | c.529+2195G>T (n.529+2195G>T) c.1976C>A (p.Ser659Ter) c.27+2195G>T | |
| 6 | g.116120141A>C | CA365386280 | COL10A1,NT5DC1 | c.529+2196A>C (n.529+2196A>C) c.1975T>G (p.Ser659Ala) c.27+2196A>C | |
| 6 | g.116120141A>G | CA365386281 | COL10A1,NT5DC1 | c.529+2196A>G (n.529+2196A>G) c.1975T>C (p.Ser659Pro) c.27+2196A>G | |
| 6 | g.116120141A>T | CA365386282 | COL10A1,NT5DC1 | c.529+2196A>T (n.529+2196A>T) c.1975T>A (p.Ser659Thr) c.27+2196A>T | |
| 6 | g.116120142C>A | CA365386283 | COL10A1,NT5DC1 | c.529+2197C>A (n.529+2197C>A) c.1974G>T (p.Glu658Asp) c.27+2197C>A | |
| 6 | g.116120142C= | CA1657093198 | COL10A1,NT5DC1 | c.529+2197C= (n.529+2197C=) c.1974G= (p.Glu658=) c.27+2197C= | |
| 6 | g.116120142C>G | CA365386284 | COL10A1,NT5DC1 | c.529+2197C>G (n.529+2197C>G) c.1974G>C (p.Glu658Asp) c.27+2197C>G | dbSNP |
| 6 | g.116120142C>T | CA451899369 | COL10A1,NT5DC1 | c.529+2197C>T (n.529+2197C>T) c.1974G>A (p.Glu658=) c.27+2197C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.116120143T>A | CA365386285 | COL10A1,NT5DC1 | c.529+2198T>A (n.529+2198T>A) c.1973A>T (p.Glu658Val) c.27+2198T>A | |
| 6 | g.116120143T>C | CA365386286 | COL10A1,NT5DC1 | c.529+2198T>C (n.529+2198T>C) c.1973A>G (p.Glu658Gly) c.27+2198T>C | |
| 6 | g.116120143T>G | CA365386287 | COL10A1,NT5DC1 | c.529+2198T>G (n.529+2198T>G) c.1973A>C (p.Glu658Ala) c.27+2198T>G | |
| 6 | g.116120144C>A | CA365386288 | COL10A1,NT5DC1 | c.529+2199C>A (n.529+2199C>A) c.1972G>T (p.Glu658Ter) c.27+2199C>A | COSMIC |
| 6 | g.116120144C= | CA1657093199 | COL10A1,NT5DC1 | c.529+2199C= (n.529+2199C=) c.1972G= (p.Glu658=) c.27+2199C= | |
| 6 | g.116120144C>G | CA365386289 | COL10A1,NT5DC1 | c.529+2199C>G (n.529+2199C>G) c.1972G>C (p.Glu658Gln) c.27+2199C>G | |
| 6 | g.116120144C>T | CA3968084 | COL10A1,NT5DC1 | c.529+2199C>T (n.529+2199C>T) c.1972G>A (p.Glu658Lys) c.27+2199C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120145G>A | CA451899370 | COL10A1,NT5DC1 | c.529+2200G>A (n.529+2200G>A) c.1971C>T (p.Ala657=) c.27+2200G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120145G>C | CA451899372 | COL10A1,NT5DC1 | c.529+2200G>C (n.529+2200G>C) c.1971C>G (p.Ala657=) c.27+2200G>C | |
| 6 | g.116120145G= | CA1657093200 | COL10A1,NT5DC1 | c.529+2200G= (n.529+2200G=) c.1971C= (p.Ala657=) c.27+2200G= | |
| 6 | g.116120145G>T | CA451899371 | COL10A1,NT5DC1 | c.529+2200G>T (n.529+2200G>T) c.1971C>A (p.Ala657=) c.27+2200G>T | |
| 6 | g.116120146G>A | CA365386290 | COL10A1,NT5DC1 | c.529+2201G>A (n.529+2201G>A) c.1970C>T (p.Ala657Val) c.27+2201G>A | |
| 6 | g.116120146G>C | CA365386291 | COL10A1,NT5DC1 | c.529+2201G>C (n.529+2201G>C) c.1970C>G (p.Ala657Gly) c.27+2201G>C | |
| 6 | g.116120146G= | CA1657093201 | COL10A1,NT5DC1 | c.529+2201G= (n.529+2201G=) c.1970C= (p.Ala657=) c.27+2201G= | |
| 6 | g.116120146G>T | CA3968085 | COL10A1,NT5DC1 | c.529+2201G>T (n.529+2201G>T) c.1970C>A (p.Ala657Asp) c.27+2201G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120147C>A | CA365386292 | COL10A1,NT5DC1 | c.529+2202C>A (n.529+2202C>A) c.1969G>T (p.Ala657Ser) c.27+2202C>A | |
| 6 | g.116120147C>G | CA365386293 | COL10A1,NT5DC1 | c.529+2202C>G (n.529+2202C>G) c.1969G>C (p.Ala657Pro) c.27+2202C>G | |
| 6 | g.116120147C>T | CA365386294 | COL10A1,NT5DC1 | c.529+2202C>T (n.529+2202C>T) c.1969G>A (p.Ala657Thr) c.27+2202C>T | |
| 6 | g.116120147dup | CA2695206883 | COL10A1,NT5DC1 | c.529+2202dup (n.529+2202dup) c.1969dup (p.Ala657GlyfsTer10) c.27+2202dup | |
| 6 | g.116120148A= | CA1657093202 | COL10A1,NT5DC1 | c.529+2203A= (n.529+2203A=) c.1968T= (p.Asn656=) c.27+2203A= | |
| 6 | g.116120148A>C | CA365386295 | COL10A1,NT5DC1 | c.529+2203A>C (n.529+2203A>C) c.1968T>G (p.Asn656Lys) c.27+2203A>C | ClinVar |
| 6 | g.116120148A>G | CA451899373 | COL10A1,NT5DC1 | c.529+2203A>G (n.529+2203A>G) c.1968T>C (p.Asn656=) c.27+2203A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120148A>T | CA365386296 | COL10A1,NT5DC1 | c.529+2203A>T (n.529+2203A>T) c.1968T>A (p.Asn656Lys) c.27+2203A>T | gnomAD v4 |
| 6 | g.116120149T>A | CA365386297 | COL10A1,NT5DC1 | c.529+2204T>A (n.529+2204T>A) c.1967A>T (p.Asn656Ile) c.27+2204T>A | |
| 6 | g.116120149T>C | CA145908137 | COL10A1,NT5DC1 | c.529+2204T>C (n.529+2204T>C) c.1967A>G (p.Asn656Ser) c.27+2204T>C | dbSNP gnomAD v4 |
| 6 | g.116120149T>G | CA365386298 | COL10A1,NT5DC1 | c.529+2204T>G (n.529+2204T>G) c.1967A>C (p.Asn656Thr) c.27+2204T>G | |
| 6 | g.116120149T= | CA1657093203 | COL10A1,NT5DC1 | c.529+2204T= (n.529+2204T=) c.1967A= (p.Asn656=) c.27+2204T= | |
| 6 | g.116120150T>A | CA365386299 | COL10A1,NT5DC1 | c.529+2205T>A (n.529+2205T>A) c.1966A>T (p.Asn656Tyr) c.27+2205T>A | |
| 6 | g.116120150T>C | CA365386300 | COL10A1,NT5DC1 | c.529+2205T>C (n.529+2205T>C) c.1966A>G (p.Asn656Asp) c.27+2205T>C | |
| 6 | g.116120150T>G | CA365386301 | COL10A1,NT5DC1 | c.529+2205T>G (n.529+2205T>G) c.1966A>C (p.Asn656His) c.27+2205T>G | |
| 6 | g.116120151G>A | CA451899374 | COL10A1,NT5DC1 | c.529+2206G>A (n.529+2206G>A) c.1965C>T (p.Pro655=) c.27+2206G>A | |
| 6 | g.116120151G>C | CA451899375 | COL10A1,NT5DC1 | c.529+2206G>C (n.529+2206G>C) c.1965C>G (p.Pro655=) c.27+2206G>C | |
| 6 | g.116120151G>T | CA451899376 | COL10A1,NT5DC1 | c.529+2206G>T (n.529+2206G>T) c.1965C>A (p.Pro655=) c.27+2206G>T | |
| 6 | g.116120153del | CA2695206884 | COL10A1,NT5DC1 | c.529+2208del (n.529+2208del) c.1965del (p.Asn656MetfsTer21) c.27+2208del | |
| 6 | g.116120152G>A | CA365386304 | COL10A1,NT5DC1 | c.529+2207G>A (n.529+2207G>A) c.1964C>T (p.Pro655Leu) c.27+2207G>A | |
| 6 | g.116120152G>C | CA365386303 | COL10A1,NT5DC1 | c.529+2207G>C (n.529+2207G>C) c.1964C>G (p.Pro655Arg) c.27+2207G>C | |
| 6 | g.116120152G>T | CA365386302 | COL10A1,NT5DC1 | c.529+2207G>T (n.529+2207G>T) c.1964C>A (p.Pro655His) c.27+2207G>T | |
| 6 | g.116120153G>A | CA365386305 | COL10A1,NT5DC1 | c.529+2208G>A (n.529+2208G>A) c.1963C>T (p.Pro655Ser) c.27+2208G>A | gnomAD v4 COSMIC |
| 6 | g.116120153G>C | CA365386306 | COL10A1,NT5DC1 | c.529+2208G>C (n.529+2208G>C) c.1963C>G (p.Pro655Ala) c.27+2208G>C | |
| 6 | g.116120153G>T | CA365386307 | COL10A1,NT5DC1 | c.529+2208G>T (n.529+2208G>T) c.1963C>A (p.Pro655Thr) c.27+2208G>T | |
| 6 | g.116120154A= | CA1657093204 | COL10A1,NT5DC1 | c.529+2209A= (n.529+2209A=) c.1962T= (p.Leu654=) c.27+2209A= | |
| 6 | g.116120154A>C | CA451899379 | COL10A1,NT5DC1 | c.529+2209A>C (n.529+2209A>C) c.1962T>G (p.Leu654=) c.27+2209A>C | |
| 6 | g.116120154A>G | CA451899378 | COL10A1,NT5DC1 | c.529+2209A>G (n.529+2209A>G) c.1962T>C (p.Leu654=) c.27+2209A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120154A>T | CA451899377 | COL10A1,NT5DC1 | c.529+2209A>T (n.529+2209A>T) c.1962T>A (p.Leu654=) c.27+2209A>T | |
| 6 | g.116120155A>C | CA365386308 | COL10A1,NT5DC1 | c.529+2210A>C (n.529+2210A>C) c.1961T>G (p.Leu654Arg) c.27+2210A>C | |
| 6 | g.116120155A>G | CA365386309 | COL10A1,NT5DC1 | c.529+2210A>G (n.529+2210A>G) c.1961T>C (p.Leu654Pro) c.27+2210A>G | |
| 6 | g.116120155A>T | CA365386310 | COL10A1,NT5DC1 | c.529+2210A>T (n.529+2210A>T) c.1961T>A (p.Leu654His) c.27+2210A>T | |
| 6 | g.116120156G>A | CA365386311 | COL10A1,NT5DC1 | c.529+2211G>A (n.529+2211G>A) c.1960C>T (p.Leu654Phe) c.27+2211G>A | gnomAD v4 |
| 6 | g.116120156G>C | CA365386313 | COL10A1,NT5DC1 | c.529+2211G>C (n.529+2211G>C) c.1960C>G (p.Leu654Val) c.27+2211G>C | |
| 6 | g.116120156G>T | CA365386312 | COL10A1,NT5DC1 | c.529+2211G>T (n.529+2211G>T) c.1960C>A (p.Leu654Ile) c.27+2211G>T | |
| 6 | g.116120157C>A | CA365386314 | COL10A1,NT5DC1 | c.529+2212C>A (n.529+2212C>A) c.1959G>T (p.Gln653His) c.27+2212C>A | |
| 6 | g.116120157C= | CA1657093205 | COL10A1,NT5DC1 | c.529+2212C= (n.529+2212C=) c.1959G= (p.Gln653=) c.27+2212C= | |
| 6 | g.116120157C>G | CA365386315 | COL10A1,NT5DC1 | c.529+2212C>G (n.529+2212C>G) c.1959G>C (p.Gln653His) c.27+2212C>G | |
| 6 | g.116120157C>T | CA451899380 | COL10A1,NT5DC1 | c.529+2212C>T (n.529+2212C>T) c.1959G>A (p.Gln653=) c.27+2212C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120161_116120172del | CA2695206885 | COL10A1,NT5DC1 | c.529+2216_529+2227del (n.529+2216_529+2227del) c.1948_1959del (p.Val650_Gln653del) c.27+2216_27+2227del | |
| 6 | g.116120158T>A | CA365386316 | COL10A1,NT5DC1 | c.529+2213T>A (n.529+2213T>A) c.1958A>T (p.Gln653Leu) c.27+2213T>A | |
| 6 | g.116120158T>C | CA365386317 | COL10A1,NT5DC1 | c.529+2213T>C (n.529+2213T>C) c.1958A>G (p.Gln653Arg) c.27+2213T>C | |
| 6 | g.116120158T>G | CA365386318 | COL10A1,NT5DC1 | c.529+2213T>G (n.529+2213T>G) c.1958A>C (p.Gln653Pro) c.27+2213T>G | dbSNP gnomAD v2 |
| 6 | g.116120158T= | CA1657093206 | COL10A1,NT5DC1 | c.529+2213T= (n.529+2213T=) c.1958A= (p.Gln653=) c.27+2213T= | |
| 6 | g.116120159G>A | CA365386319 | COL10A1,NT5DC1 | c.529+2214G>A (n.529+2214G>A) c.1957C>T (p.Gln653Ter) c.27+2214G>A | ClinVar dbSNP |
| 6 | g.116120159G>C | CA365386320 | COL10A1,NT5DC1 | c.529+2214G>C (n.529+2214G>C) c.1957C>G (p.Gln653Glu) c.27+2214G>C | |
| 6 | g.116120159G= | CA1657093207 | COL10A1,NT5DC1 | c.529+2214G= (n.529+2214G=) c.1957C= (p.Gln653=) c.27+2214G= | |
| 6 | g.116120159G>T | CA365386321 | COL10A1,NT5DC1 | c.529+2214G>T (n.529+2214G>T) c.1957C>A (p.Gln653Lys) c.27+2214G>T | |
| 6 | g.116120160G>A | CA451899381 | COL10A1,NT5DC1 | c.529+2215G>A (n.529+2215G>A) c.1956C>T (p.Leu652=) c.27+2215G>A | |
| 6 | g.116120160G>C | CA451899382 | COL10A1,NT5DC1 | c.529+2215G>C (n.529+2215G>C) c.1956C>G (p.Leu652=) c.27+2215G>C | |
| 6 | g.116120160G>T | CA451899383 | COL10A1,NT5DC1 | c.529+2215G>T (n.529+2215G>T) c.1956C>A (p.Leu652=) c.27+2215G>T | |
| 6 | g.116120161_116120162dup | CA1139659774 | COL10A1,NT5DC1 | c.529+2216_529+2217dup (n.529+2216_529+2217dup) c.1955_1956dup (p.Gln653SerfsTer25) c.27+2216_27+2217dup | ClinVar dbSNP |
| 6 | g.116120161A>C | CA365386322 | COL10A1,NT5DC1 | c.529+2216A>C (n.529+2216A>C) c.1955T>G (p.Leu652Arg) c.27+2216A>C | ClinVar dbSNP |
| 6 | g.116120161A>G | CA365386323 | COL10A1,NT5DC1 | c.529+2216A>G (n.529+2216A>G) c.1955T>C (p.Leu652Pro) c.27+2216A>G | ClinVar |
| 6 | g.116120161A>T | CA365386324 | COL10A1,NT5DC1 | c.529+2216A>T (n.529+2216A>T) c.1955T>A (p.Leu652His) c.27+2216A>T | |
| 6 | g.116120162G>A | CA365386325 | COL10A1,NT5DC1 | c.529+2217G>A (n.529+2217G>A) c.1954C>T (p.Leu652Phe) c.27+2217G>A | ClinVar gnomAD v4 |
| 6 | g.116120162G>C | CA365386327 | COL10A1,NT5DC1 | c.529+2217G>C (n.529+2217G>C) c.1954C>G (p.Leu652Val) c.27+2217G>C | |
| 6 | g.116120162G>T | CA365386326 | COL10A1,NT5DC1 | c.529+2217G>T (n.529+2217G>T) c.1954C>A (p.Leu652Ile) c.27+2217G>T | |
| 6 | g.116120162_116120168delinsGCCACAC | CA1657093208 | COL10A1,NT5DC1 | c.529+2217_529+2223delinsGCCACAC (n.529+2217_529+2223delinsGCCACAC) c.1948_1954delinsGTGTGGC (p.Val650=) c.27+2217_27+2223delinsGCCACAC | |
| 6 | g.116120163C>A | CA365386328 | COL10A1,NT5DC1 | c.529+2218C>A (n.529+2218C>A) c.1953G>T (p.Trp651Cys) c.27+2218C>A | |
| 6 | g.116120163C= | CA1657093209 | COL10A1,NT5DC1 | c.529+2218C= (n.529+2218C=) c.1953G= (p.Trp651=) c.27+2218C= | |
| 6 | g.116120163C>G | CA365386329 | COL10A1,NT5DC1 | c.529+2218C>G (n.529+2218C>G) c.1953G>C (p.Trp651Cys) c.27+2218C>G | |
| 6 | g.116120163C>T | CA127215 | COL10A1,NT5DC1 | c.529+2218C>T (n.529+2218C>T) c.1953G>A (p.Trp651Ter) c.27+2218C>T | ClinVar dbSNP |
| 6 | g.116120164del | CA2697553660 | COL10A1,NT5DC1 | c.529+2219del (n.529+2219del) c.1953del (p.Trp651CysfsTer26) c.27+2219del | ClinVar |
| 6 | g.116120164_116120169del | CA915943614 | COL10A1,NT5DC1 | c.529+2219_529+2224del (n.529+2219_529+2224del) c.1948_1953del (p.Val650_Trp651del) c.27+2219_27+2224del | ClinVar dbSNP |
| 6 | g.116120164C>A | CA365386330 | COL10A1,NT5DC1 | c.529+2219C>A (n.529+2219C>A) c.1952G>T (p.Trp651Leu) c.27+2219C>A | ClinVar |
| 6 | g.116120164C= | CA1657093210 | COL10A1,NT5DC1 | c.529+2219C= (n.529+2219C=) c.1952G= (p.Trp651=) c.27+2219C= | |
| 6 | g.116120164C>G | CA365386331 | COL10A1,NT5DC1 | c.529+2219C>G (n.529+2219C>G) c.1952G>C (p.Trp651Ser) c.27+2219C>G | |
| 6 | g.116120164C>T | CA365386332 | COL10A1,NT5DC1 | c.529+2219C>T (n.529+2219C>T) c.1952G>A (p.Trp651Ter) c.27+2219C>T | ClinVar dbSNP |
| 6 | g.116120167_116120168dup | CA2580617326 | COL10A1,NT5DC1 | c.529+2222_529+2223dup (n.529+2222_529+2223dup) c.1951_1952dup (p.Trp651CysfsTer27) c.27+2222_27+2223dup | ClinVar dbSNP |
| 6 | g.116120165A= | CA1657093211 | COL10A1,NT5DC1 | c.529+2220A= (n.529+2220A=) c.1951T= (p.Trp651=) c.27+2220A= | |
| 6 | g.116120165A>C | CA365386333 | COL10A1,NT5DC1 | c.529+2220A>C (n.529+2220A>C) c.1951T>G (p.Trp651Gly) c.27+2220A>C | ClinVar |
| 6 | g.116120165A>G | CA127217 | COL10A1,NT5DC1 | c.529+2220A>G (n.529+2220A>G) c.1951T>C (p.Trp651Arg) c.27+2220A>G | ClinVar dbSNP |
| 6 | g.116120165A>T | CA365386334 | COL10A1,NT5DC1 | c.529+2220A>T (n.529+2220A>T) c.1951T>A (p.Trp651Arg) c.27+2220A>T | |
| 6 | g.116120166C>A | CA451899384 | COL10A1,NT5DC1 | c.529+2221C>A (n.529+2221C>A) c.1950G>T (p.Val650=) c.27+2221C>A | |
| 6 | g.116120166C= | CA1657093212 | COL10A1,NT5DC1 | c.529+2221C= (n.529+2221C=) c.1950G= (p.Val650=) c.27+2221C= | |
| 6 | g.116120166C>G | CA451899385 | COL10A1,NT5DC1 | c.529+2221C>G (n.529+2221C>G) c.1950G>C (p.Val650=) c.27+2221C>G | |
| 6 | g.116120166C>T | CA3968086 | COL10A1,NT5DC1 | c.529+2221C>T (n.529+2221C>T) c.1950G>A (p.Val650=) c.27+2221C>T | dbSNP ExAC gnomAD v4 |
| 6 | g.116120167A>C | CA365386335 | COL10A1,NT5DC1 | c.529+2222A>C (n.529+2222A>C) c.1949T>G (p.Val650Gly) c.27+2222A>C | |
| 6 | g.116120167A>G | CA365386336 | COL10A1,NT5DC1 | c.529+2222A>G (n.529+2222A>G) c.1949T>C (p.Val650Ala) c.27+2222A>G | |
| 6 | g.116120167A>T | CA365386337 | COL10A1,NT5DC1 | c.529+2222A>T (n.529+2222A>T) c.1949T>A (p.Val650Glu) c.27+2222A>T | |
| 6 | g.116120168C>A | CA365386340 | COL10A1,NT5DC1 | c.529+2223C>A (n.529+2223C>A) c.1948G>T (p.Val650Leu) c.27+2223C>A | |
| 6 | g.116120168C>G | CA365386339 | COL10A1,NT5DC1 | c.529+2223C>G (n.529+2223C>G) c.1948G>C (p.Val650Leu) c.27+2223C>G | |
| 6 | g.116120168C>T | CA365386338 | COL10A1,NT5DC1 | c.529+2223C>T (n.529+2223C>T) c.1948G>A (p.Val650Met) c.27+2223C>T | |
| 6 | g.116120169C>A | CA365386341 | COL10A1,NT5DC1 | c.529+2224C>A (n.529+2224C>A) c.1947G>T (p.Gln649His) c.27+2224C>A | |
| 6 | g.116120169C= | CA1657093213 | COL10A1,NT5DC1 | c.529+2224C= (n.529+2224C=) c.1947G= (p.Gln649=) c.27+2224C= | |
| 6 | g.116120169C>G | CA365386342 | COL10A1,NT5DC1 | c.529+2224C>G (n.529+2224C>G) c.1947G>C (p.Gln649His) c.27+2224C>G | dbSNP gnomAD v4 |
| 6 | g.116120169C>T | CA451899386 | COL10A1,NT5DC1 | c.529+2224C>T (n.529+2224C>T) c.1947G>A (p.Gln649=) c.27+2224C>T | |
| 6 | g.116120169_116120170insCTACAAAATGCATA | CA1657093214 | COL10A1,NT5DC1 | c.529+2224_529+2225insCTACAAAATGCATA (n.529+2224_529+2225insCTACAAAATGCATA) c.1946_1947insTATGCATTTTGTAG (p.Gln649HisfsTer33) c.27+2224_27+2225insCTACAAAATGCATA | dbSNP |
| 6 | g.116120170del | CA2580074794 | COL10A1,NT5DC1 | c.529+2225del (n.529+2225del) c.1946del (p.Gln649ArgfsTer28) c.27+2225del | ClinVar |
| 6 | g.116120170T>A | CA365386343 | COL10A1,NT5DC1 | c.529+2225T>A (n.529+2225T>A) c.1946A>T (p.Gln649Leu) c.27+2225T>A | |
| 6 | g.116120170T>C | CA365386344 | COL10A1,NT5DC1 | c.529+2225T>C (n.529+2225T>C) c.1946A>G (p.Gln649Arg) c.27+2225T>C | |
| 6 | g.116120170T>G | CA365386345 | COL10A1,NT5DC1 | c.529+2225T>G (n.529+2225T>G) c.1946A>C (p.Gln649Pro) c.27+2225T>G |