Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |