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.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.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 | |
6 | g.116120171G>A | CA365386346 | COL10A1,NT5DC1 | c.529+2226G>A (n.529+2226G>A) c.1945C>T (p.Gln649Ter) c.27+2226G>A | ClinVar |
6 | g.116120171G>C | CA365386347 | COL10A1,NT5DC1 | c.529+2226G>C (n.529+2226G>C) c.1945C>G (p.Gln649Glu) c.27+2226G>C | |
6 | g.116120171G>T | CA365386348 | COL10A1,NT5DC1 | c.529+2226G>T (n.529+2226G>T) c.1945C>A (p.Gln649Lys) c.27+2226G>T | |
6 | g.116120172G>A | CA3968088 | COL10A1,NT5DC1 | c.529+2227G>A (n.529+2227G>A) c.1944C>T (p.Asp648=) c.27+2227G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120172G>C | CA365386349 | COL10A1,NT5DC1 | c.529+2227G>C (n.529+2227G>C) c.1944C>G (p.Asp648Glu) c.27+2227G>C | |
6 | g.116120172G= | CA1657093215 | COL10A1,NT5DC1 | c.529+2227G= (n.529+2227G=) c.1944C= (p.Asp648=) c.27+2227G= | |
6 | g.116120172G>T | CA3968087 | COL10A1,NT5DC1 | c.529+2227G>T (n.529+2227G>T) c.1944C>A (p.Asp648Glu) c.27+2227G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120173T>A | CA365386351 | COL10A1,NT5DC1 | c.529+2228T>A (n.529+2228T>A) c.1943A>T (p.Asp648Val) c.27+2228T>A | |
6 | g.116120173T>C | CA365386352 | COL10A1,NT5DC1 | c.529+2228T>C (n.529+2228T>C) c.1943A>G (p.Asp648Gly) c.27+2228T>C | |
6 | g.116120173T>G | CA365386350 | COL10A1,NT5DC1 | c.529+2228T>G (n.529+2228T>G) c.1943A>C (p.Asp648Ala) c.27+2228T>G | |
6 | g.116120174C>A | CA365386353 | COL10A1,NT5DC1 | c.529+2229C>A (n.529+2229C>A) c.1942G>T (p.Asp648Tyr) c.27+2229C>A | |
6 | g.116120174C= | CA1657093216 | COL10A1,NT5DC1 | c.529+2229C= (n.529+2229C=) c.1942G= (p.Asp648=) c.27+2229C= | |
6 | g.116120174C>G | CA365386354 | COL10A1,NT5DC1 | c.529+2229C>G (n.529+2229C>G) c.1942G>C (p.Asp648His) c.27+2229C>G | ClinVar dbSNP |
6 | g.116120174C>T | CA365386355 | COL10A1,NT5DC1 | c.529+2229C>T (n.529+2229C>T) c.1942G>A (p.Asp648Asn) c.27+2229C>T | |
6 | g.116120175A= | CA1657093217 | COL10A1,NT5DC1 | c.529+2230A= (n.529+2230A=) c.1941T= (p.Asn647=) c.27+2230A= | |
6 | g.116120175A>C | CA365386356 | COL10A1,NT5DC1 | c.529+2230A>C (n.529+2230A>C) c.1941T>G (p.Asn647Lys) c.27+2230A>C | |
6 | g.116120175A>G | CA3968089 | COL10A1,NT5DC1 | c.529+2230A>G (n.529+2230A>G) c.1941T>C (p.Asn647=) c.27+2230A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120175A>T | CA365386357 | COL10A1,NT5DC1 | c.529+2230A>T (n.529+2230A>T) c.1941T>A (p.Asn647Lys) c.27+2230A>T | |
6 | g.116120176T>A | CA365386360 | COL10A1,NT5DC1 | c.529+2231T>A (n.529+2231T>A) c.1940A>T (p.Asn647Ile) c.27+2231T>A | |
6 | g.116120176T>C | CA365386358 | COL10A1,NT5DC1 | c.529+2231T>C (n.529+2231T>C) c.1940A>G (p.Asn647Ser) c.27+2231T>C | |
6 | g.116120176T>G | CA365386359 | COL10A1,NT5DC1 | c.529+2231T>G (n.529+2231T>G) c.1940A>C (p.Asn647Thr) c.27+2231T>G | |
6 | g.116120177T>A | CA365386361 | COL10A1,NT5DC1 | c.529+2232T>A (n.529+2232T>A) c.1939A>T (p.Asn647Tyr) c.27+2232T>A | |
6 | g.116120177T>C | CA365386362 | COL10A1,NT5DC1 | c.529+2232T>C (n.529+2232T>C) c.1939A>G (p.Asn647Asp) c.27+2232T>C | |
6 | g.116120177T>G | CA365386363 | COL10A1,NT5DC1 | c.529+2232T>G (n.529+2232T>G) c.1939A>C (p.Asn647His) c.27+2232T>G | |
6 | g.116120178T>A | CA365386364 | COL10A1,NT5DC1 | c.529+2233T>A (n.529+2233T>A) c.1938A>T (p.Glu646Asp) c.27+2233T>A | |
6 | g.116120178T>C | CA451899387 | COL10A1,NT5DC1 | c.529+2233T>C (n.529+2233T>C) c.1938A>G (p.Glu646=) c.27+2233T>C | |
6 | g.116120178T>G | CA365386365 | COL10A1,NT5DC1 | c.529+2233T>G (n.529+2233T>G) c.1938A>C (p.Glu646Asp) c.27+2233T>G | |
6 | g.116120179T>A | CA365386366 | COL10A1,NT5DC1 | c.529+2234T>A (n.529+2234T>A) c.1937A>T (p.Glu646Val) c.27+2234T>A | |
6 | g.116120179T>C | CA365386368 | COL10A1,NT5DC1 | c.529+2234T>C (n.529+2234T>C) c.1937A>G (p.Glu646Gly) c.27+2234T>C | |
6 | g.116120179T>G | CA365386367 | COL10A1,NT5DC1 | c.529+2234T>G (n.529+2234T>G) c.1937A>C (p.Glu646Ala) c.27+2234T>G | |
6 | g.116120180C>A | CA365386369 | COL10A1,NT5DC1 | c.529+2235C>A (n.529+2235C>A) c.1936G>T (p.Glu646Ter) c.27+2235C>A | |
6 | g.116120180C= | CA1657093218 | COL10A1,NT5DC1 | c.529+2235C= (n.529+2235C=) c.1936G= (p.Glu646=) c.27+2235C= | |
6 | g.116120180C>G | CA365386370 | COL10A1,NT5DC1 | c.529+2235C>G (n.529+2235C>G) c.1936G>C (p.Glu646Gln) c.27+2235C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116120180C>T | CA365386371 | COL10A1,NT5DC1 | c.529+2235C>T (n.529+2235C>T) c.1936G>A (p.Glu646Lys) c.27+2235C>T | |
6 | g.116120181T>A | CA451899388 | COL10A1,NT5DC1 | c.529+2236T>A (n.529+2236T>A) c.1935A>T (p.Thr645=) c.27+2236T>A | |
6 | g.116120181T>C | CA451899389 | COL10A1,NT5DC1 | c.529+2236T>C (n.529+2236T>C) c.1935A>G (p.Thr645=) c.27+2236T>C | |
6 | g.116120181T>G | CA451899390 | COL10A1,NT5DC1 | c.529+2236T>G (n.529+2236T>G) c.1935A>C (p.Thr645=) c.27+2236T>G | gnomAD v4 |
6 | g.116120183_116120184del | CA2695206886 | COL10A1,NT5DC1 | c.529+2238_529+2239del (n.529+2238_529+2239del) c.1934_1935del (p.Thr645ArgfsTer3) c.27+2238_27+2239del | |
6 | g.116120182del | CA2680093583 | COL10A1,NT5DC1 | c.529+2237del (n.529+2237del) c.1934del (p.Thr645LysfsTer?) c.27+2237del | gnomAD v4 |
6 | g.116120182G>A | CA365386372 | COL10A1,NT5DC1 | c.529+2237G>A (n.529+2237G>A) c.1934C>T (p.Thr645Ile) c.27+2237G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120182G>C | CA365386373 | COL10A1,NT5DC1 | c.529+2237G>C (n.529+2237G>C) c.1934C>G (p.Thr645Arg) c.27+2237G>C | |
6 | g.116120182G= | CA1657093219 | COL10A1,NT5DC1 | c.529+2237G= (n.529+2237G=) c.1934C= (p.Thr645=) c.27+2237G= | |
6 | g.116120182G>T | CA145908163 | COL10A1,NT5DC1 | c.529+2237G>T (n.529+2237G>T) c.1934C>A (p.Thr645Lys) c.27+2237G>T | dbSNP |
6 | g.116120183T>A | CA365386374 | COL10A1,NT5DC1 | c.529+2238T>A (n.529+2238T>A) c.1933A>T (p.Thr645Ser) c.27+2238T>A | |
6 | g.116120183T>C | CA365386375 | COL10A1,NT5DC1 | c.529+2238T>C (n.529+2238T>C) c.1933A>G (p.Thr645Ala) c.27+2238T>C | |
6 | g.116120183T>G | CA365386376 | COL10A1,NT5DC1 | c.529+2238T>G (n.529+2238T>G) c.1933A>C (p.Thr645Pro) c.27+2238T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120183T= | CA1657093220 | COL10A1,NT5DC1 | c.529+2238T= (n.529+2238T=) c.1933A= (p.Thr645=) c.27+2238T= | |
6 | g.116120184G>A | CA451899392 | COL10A1,NT5DC1 | c.529+2239G>A (n.529+2239G>A) c.1932C>T (p.Leu644=) c.27+2239G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120184G>C | CA451899393 | COL10A1,NT5DC1 | c.529+2239G>C (n.529+2239G>C) c.1932C>G (p.Leu644=) c.27+2239G>C | |
6 | g.116120184G= | CA1657093221 | COL10A1,NT5DC1 | c.529+2239G= (n.529+2239G=) c.1932C= (p.Leu644=) c.27+2239G= | |
6 | g.116120184G>T | CA451899394 | COL10A1,NT5DC1 | c.529+2239G>T (n.529+2239G>T) c.1932C>A (p.Leu644=) c.27+2239G>T | |
6 | g.116120185A>C | CA365386377 | COL10A1,NT5DC1 | c.529+2240A>C (n.529+2240A>C) c.1931T>G (p.Leu644Arg) c.27+2240A>C | |
6 | g.116120185A>G | CA365386378 | COL10A1,NT5DC1 | c.529+2240A>G (n.529+2240A>G) c.1931T>C (p.Leu644Pro) c.27+2240A>G | |
6 | g.116120185A>T | CA365386379 | COL10A1,NT5DC1 | c.529+2240A>T (n.529+2240A>T) c.1931T>A (p.Leu644His) c.27+2240A>T | |
6 | g.116120186G>A | CA365386382 | COL10A1,NT5DC1 | c.529+2241G>A (n.529+2241G>A) c.1930C>T (p.Leu644Phe) c.27+2241G>A | |
6 | g.116120186G>C | CA365386381 | COL10A1,NT5DC1 | c.529+2241G>C (n.529+2241G>C) c.1930C>G (p.Leu644Val) c.27+2241G>C | |
6 | g.116120186G= | CA1657093222 | COL10A1,NT5DC1 | c.529+2241G= (n.529+2241G=) c.1930C= (p.Leu644=) c.27+2241G= | |
6 | g.116120186G>T | CA365386380 | COL10A1,NT5DC1 | c.529+2241G>T (n.529+2241G>T) c.1930C>A (p.Leu644Ile) c.27+2241G>T | dbSNP gnomAD v4 |
6 | g.116120187A>C | CA365386383 | COL10A1,NT5DC1 | c.529+2242A>C (n.529+2242A>C) c.1929T>G (p.Asp643Glu) c.27+2242A>C | |
6 | g.116120187A>G | CA451899395 | COL10A1,NT5DC1 | c.529+2242A>G (n.529+2242A>G) c.1929T>C (p.Asp643=) c.27+2242A>G | gnomAD v4 |
6 | g.116120187A>T | CA365386384 | COL10A1,NT5DC1 | c.529+2242A>T (n.529+2242A>T) c.1929T>A (p.Asp643Glu) c.27+2242A>T | |
6 | g.116120188T>A | CA365386385 | COL10A1,NT5DC1 | c.529+2243T>A (n.529+2243T>A) c.1928A>T (p.Asp643Val) c.27+2243T>A | |
6 | g.116120188T>C | CA365386386 | COL10A1,NT5DC1 | c.529+2243T>C (n.529+2243T>C) c.1928A>G (p.Asp643Gly) c.27+2243T>C | |
6 | g.116120188T>G | CA3968090 | COL10A1,NT5DC1 | c.529+2243T>G (n.529+2243T>G) c.1928A>C (p.Asp643Ala) c.27+2243T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120188T= | CA1657093223 | COL10A1,NT5DC1 | c.529+2243T= (n.529+2243T=) c.1928A= (p.Asp643=) c.27+2243T= | |
6 | g.116120189C>A | CA365386387 | COL10A1,NT5DC1 | c.529+2244C>A (n.529+2244C>A) c.1927G>T (p.Asp643Tyr) c.27+2244C>A | |
6 | g.116120189C= | CA1657093224 | COL10A1,NT5DC1 | c.529+2244C= (n.529+2244C=) c.1927G= (p.Asp643=) c.27+2244C= | |
6 | g.116120189C>G | CA3968092 | COL10A1,NT5DC1 | c.529+2244C>G (n.529+2244C>G) c.1927G>C (p.Asp643His) c.27+2244C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120189C>T | CA3968091 | COL10A1,NT5DC1 | c.529+2244C>T (n.529+2244C>T) c.1927G>A (p.Asp643Asn) c.27+2244C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120190G>A | CA451899399 | COL10A1,NT5DC1 | c.529+2245G>A (n.529+2245G>A) c.1926C>T (p.Ile642=) c.27+2245G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120190G>C | CA365386389 | COL10A1,NT5DC1 | c.529+2245G>C (n.529+2245G>C) c.1926C>G (p.Ile642Met) c.27+2245G>C | |
6 | g.116120190G= | CA1657093225 | COL10A1,NT5DC1 | c.529+2245G= (n.529+2245G=) c.1926C= (p.Ile642=) c.27+2245G= | |
6 | g.116120190G>T | CA451899400 | COL10A1,NT5DC1 | c.529+2245G>T (n.529+2245G>T) c.1926C>A (p.Ile642=) c.27+2245G>T | COSMIC |
6 | g.116120191A>C | CA365386391 | COL10A1,NT5DC1 | c.529+2246A>C (n.529+2246A>C) c.1925T>G (p.Ile642Ser) c.27+2246A>C | ClinVar |
6 | g.116120191A>G | CA365386392 | COL10A1,NT5DC1 | c.529+2246A>G (n.529+2246A>G) c.1925T>C (p.Ile642Thr) c.27+2246A>G | |
6 | g.116120191A>T | CA365386393 | COL10A1,NT5DC1 | c.529+2246A>T (n.529+2246A>T) c.1925T>A (p.Ile642Asn) c.27+2246A>T | |
6 | g.116120192T>A | CA365386394 | COL10A1,NT5DC1 | c.529+2247T>A (n.529+2247T>A) c.1924A>T (p.Ile642Phe) c.27+2247T>A | |
6 | g.116120192T>C | CA365386395 | COL10A1,NT5DC1 | c.529+2247T>C (n.529+2247T>C) c.1924A>G (p.Ile642Val) c.27+2247T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120192T>G | CA365386397 | COL10A1,NT5DC1 | c.529+2247T>G (n.529+2247T>G) c.1924A>C (p.Ile642Leu) c.27+2247T>G | |
6 | g.116120192T= | CA1657093226 | COL10A1,NT5DC1 | c.529+2247T= (n.529+2247T=) c.1924A= (p.Ile642=) c.27+2247T= | |
6 | g.116120193G>A | CA451899404 | COL10A1,NT5DC1 | c.529+2248G>A (n.529+2248G>A) c.1923C>T (p.Ile641=) c.27+2248G>A | |
6 | g.116120193G>C | CA365386398 | COL10A1,NT5DC1 | c.529+2248G>C (n.529+2248G>C) c.1923C>G (p.Ile641Met) c.27+2248G>C | gnomAD v4 |
6 | g.116120193G>T | CA451899405 | COL10A1,NT5DC1 | c.529+2248G>T (n.529+2248G>T) c.1923C>A (p.Ile641=) c.27+2248G>T | |
6 | g.116120194A>C | CA365386399 | COL10A1,NT5DC1 | c.529+2249A>C (n.529+2249A>C) c.1922T>G (p.Ile641Ser) c.27+2249A>C | |
6 | g.116120194A>G | CA365386400 | COL10A1,NT5DC1 | c.529+2249A>G (n.529+2249A>G) c.1922T>C (p.Ile641Thr) c.27+2249A>G | gnomAD v4 |
6 | g.116120194A>T | CA365386401 | COL10A1,NT5DC1 | c.529+2249A>T (n.529+2249A>T) c.1922T>A (p.Ile641Asn) c.27+2249A>T | |
6 | g.116120195T>A | CA365386402 | COL10A1,NT5DC1 | c.529+2250T>A (n.529+2250T>A) c.1921A>T (p.Ile641Phe) c.27+2250T>A | |
6 | g.116120195T>C | CA365386403 | COL10A1,NT5DC1 | c.529+2250T>C (n.529+2250T>C) c.1921A>G (p.Ile641Val) c.27+2250T>C | |
6 | g.116120195T>G | CA365386404 | COL10A1,NT5DC1 | c.529+2250T>G (n.529+2250T>G) c.1921A>C (p.Ile641Leu) c.27+2250T>G | |
6 | g.116120196G>A | CA451899409 | COL10A1,NT5DC1 | c.529+2251G>A (n.529+2251G>A) c.1920C>T (p.Ala640=) c.27+2251G>A | |
6 | g.116120196G>C | CA451899411 | COL10A1,NT5DC1 | c.529+2251G>C (n.529+2251G>C) c.1920C>G (p.Ala640=) c.27+2251G>C | |
6 | g.116120196G>T | CA451899410 | COL10A1,NT5DC1 | c.529+2251G>T (n.529+2251G>T) c.1920C>A (p.Ala640=) c.27+2251G>T | |
6 | g.116120197G>A | CA3968093 | COL10A1,NT5DC1 | c.529+2252G>A (n.529+2252G>A) c.1919C>T (p.Ala640Val) c.27+2252G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120197G>C | CA365386406 | COL10A1,NT5DC1 | c.529+2252G>C (n.529+2252G>C) c.1919C>G (p.Ala640Gly) c.27+2252G>C | |
6 | g.116120197G= | CA1657093227 | COL10A1,NT5DC1 | c.529+2252G= (n.529+2252G=) c.1919C= (p.Ala640=) c.27+2252G= | |
6 | g.116120197G>T | CA365386405 | COL10A1,NT5DC1 | c.529+2252G>T (n.529+2252G>T) c.1919C>A (p.Ala640Asp) c.27+2252G>T | |
6 | g.116120198C>A | CA365386408 | COL10A1,NT5DC1 | c.529+2253C>A (n.529+2253C>A) c.1918G>T (p.Ala640Ser) c.27+2253C>A | |
6 | g.116120198C= | CA1657093228 | COL10A1,NT5DC1 | c.529+2253C= (n.529+2253C=) c.1918G= (p.Ala640=) c.27+2253C= | |
6 | g.116120198C>G | CA365386410 | COL10A1,NT5DC1 | c.529+2253C>G (n.529+2253C>G) c.1918G>C (p.Ala640Pro) c.27+2253C>G | ClinVar |
6 | g.116120198C>T | CA365386411 | COL10A1,NT5DC1 | c.529+2253C>T (n.529+2253C>T) c.1918G>A (p.Ala640Thr) c.27+2253C>T | dbSNP gnomAD v4 |
6 | g.116120199A>C | CA365386412 | COL10A1,NT5DC1 | c.529+2254A>C (n.529+2254A>C) c.1917T>G (p.Ser639Arg) c.27+2254A>C | |
6 | g.116120199A>G | CA451899412 | COL10A1,NT5DC1 | c.529+2254A>G (n.529+2254A>G) c.1917T>C (p.Ser639=) c.27+2254A>G | gnomAD v4 |
6 | g.116120199A>T | CA365386414 | COL10A1,NT5DC1 | c.529+2254A>T (n.529+2254A>T) c.1917T>A (p.Ser639Arg) c.27+2254A>T | |
6 | g.116120200C>A | CA365386415 | COL10A1,NT5DC1 | c.529+2255C>A (n.529+2255C>A) c.1916G>T (p.Ser639Ile) c.27+2255C>A | |
6 | g.116120200C= | CA1657093229 | COL10A1,NT5DC1 | c.529+2255C= (n.529+2255C=) c.1916G= (p.Ser639=) c.27+2255C= | |
6 | g.116120200C>G | CA365386416 | COL10A1,NT5DC1 | c.529+2255C>G (n.529+2255C>G) c.1916G>C (p.Ser639Thr) c.27+2255C>G | ClinVar dbSNP |
6 | g.116120200C>T | CA365386418 | COL10A1,NT5DC1 | c.529+2255C>T (n.529+2255C>T) c.1916G>A (p.Ser639Asn) c.27+2255C>T | gnomAD v4 |
6 | g.116120201T>A | CA365386419 | COL10A1,NT5DC1 | c.529+2256T>A (n.529+2256T>A) c.1915A>T (p.Ser639Cys) c.27+2256T>A | |
6 | g.116120201T>C | CA365386421 | COL10A1,NT5DC1 | c.529+2256T>C (n.529+2256T>C) c.1915A>G (p.Ser639Gly) c.27+2256T>C | |
6 | g.116120201T>G | CA365386423 | COL10A1,NT5DC1 | c.529+2256T>G (n.529+2256T>G) c.1915A>C (p.Ser639Arg) c.27+2256T>G | |
6 | g.116120201_116120202delinsTC | CA1657093230 | COL10A1,NT5DC1 | c.529+2256_529+2257delinsTC (n.529+2256_529+2257delinsTC) c.1914_1915delinsGA (p.Gly638=) c.27+2256_27+2257delinsTC | |
6 | g.116120201_116120212delinsA | CA2695206887 | COL10A1,NT5DC1 | c.529+2256_529+2267delinsA (n.529+2256_529+2267delinsA) c.1904_1915delinsT (p.Gln635LeufsTer10) c.27+2256_27+2267delinsA |