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.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.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.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 | 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 |