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.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 |