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.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.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 | |
| 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 | |
| 6 | g.116120202C>A | CA451899416 | COL10A1,NT5DC1 | c.529+2257C>A (n.529+2257C>A) c.1914G>T (p.Gly638=) c.27+2257C>A | |
| 6 | g.116120202C>G | CA451899417 | COL10A1,NT5DC1 | c.529+2257C>G (n.529+2257C>G) c.1914G>C (p.Gly638=) c.27+2257C>G | |
| 6 | g.116120202C>T | CA451899418 | COL10A1,NT5DC1 | c.529+2257C>T (n.529+2257C>T) c.1914G>A (p.Gly638=) c.27+2257C>T | COSMIC |
| 6 | g.116120204del | CA915943615 | COL10A1,NT5DC1 | c.529+2259del (n.529+2259del) c.1914del (p.Ser639ValfsTer?) c.27+2259del | ClinVar dbSNP |
| 6 | g.116120203C>A | CA365386424 | COL10A1,NT5DC1 | c.529+2258C>A (n.529+2258C>A) c.1913G>T (p.Gly638Val) c.27+2258C>A | |
| 6 | g.116120203C= | CA1657093231 | COL10A1,NT5DC1 | c.529+2258C= (n.529+2258C=) c.1913G= (p.Gly638=) c.27+2258C= | |
| 6 | g.116120203C>G | CA365386427 | COL10A1,NT5DC1 | c.529+2258C>G (n.529+2258C>G) c.1913G>C (p.Gly638Ala) c.27+2258C>G | |
| 6 | g.116120203C>T | CA365386426 | COL10A1,NT5DC1 | c.529+2258C>T (n.529+2258C>T) c.1913G>A (p.Gly638Glu) c.27+2258C>T | dbSNP |
| 6 | g.116120204C>A | CA365386428 | COL10A1,NT5DC1 | c.529+2259C>A (n.529+2259C>A) c.1912G>T (p.Gly638Trp) c.27+2259C>A | |
| 6 | g.116120204C>G | CA365386430 | COL10A1,NT5DC1 | c.529+2259C>G (n.529+2259C>G) c.1912G>C (p.Gly638Arg) c.27+2259C>G | |
| 6 | g.116120204C>T | CA365386431 | COL10A1,NT5DC1 | c.529+2259C>T (n.529+2259C>T) c.1912G>A (p.Gly638Arg) c.27+2259C>T | |
| 6 | g.116120205T>A | CA451899419 | COL10A1,NT5DC1 | c.529+2260T>A (n.529+2260T>A) c.1911A>T (p.Ser637=) c.27+2260T>A | gnomAD v4 |
| 6 | g.116120205T>C | CA451899420 | COL10A1,NT5DC1 | c.529+2260T>C (n.529+2260T>C) c.1911A>G (p.Ser637=) c.27+2260T>C | |
| 6 | g.116120205T>G | CA451899422 | COL10A1,NT5DC1 | c.529+2260T>G (n.529+2260T>G) c.1911A>C (p.Ser637=) c.27+2260T>G | |
| 6 | g.116120206G>A | CA365386432 | COL10A1,NT5DC1 | c.529+2261G>A (n.529+2261G>A) c.1910C>T (p.Ser637Leu) c.27+2261G>A | |
| 6 | g.116120206G>C | CA365386433 | COL10A1,NT5DC1 | c.529+2261G>C (n.529+2261G>C) c.1910C>G (p.Ser637Ter) c.27+2261G>C | |
| 6 | g.116120206G>T | CA365386434 | COL10A1,NT5DC1 | c.529+2261G>T (n.529+2261G>T) c.1910C>A (p.Ser637Ter) c.27+2261G>T | |
| 6 | g.116120207A>C | CA365386435 | COL10A1,NT5DC1 | c.529+2262A>C (n.529+2262A>C) c.1909T>G (p.Ser637Ala) c.27+2262A>C | gnomAD v4 |
| 6 | g.116120207A>G | CA365386436 | COL10A1,NT5DC1 | c.529+2262A>G (n.529+2262A>G) c.1909T>C (p.Ser637Pro) c.27+2262A>G | |
| 6 | g.116120207A>T | CA365386437 | COL10A1,NT5DC1 | c.529+2262A>T (n.529+2262A>T) c.1909T>A (p.Ser637Thr) c.27+2262A>T | |
| 6 | g.116120208del | CA2695206888 | COL10A1,NT5DC1 | c.529+2263del (n.529+2263del) c.1909del (p.Ser637GlnfsTer?) c.27+2263del | |
| 6 | g.116120208A>C | CA451899423 | COL10A1,NT5DC1 | c.529+2263A>C (n.529+2263A>C) c.1908T>G (p.Ala636=) c.27+2263A>C | |
| 6 | g.116120208A>G | CA451899424 | COL10A1,NT5DC1 | c.529+2263A>G (n.529+2263A>G) c.1908T>C (p.Ala636=) c.27+2263A>G | |
| 6 | g.116120208A>T | CA451899427 | COL10A1,NT5DC1 | c.529+2263A>T (n.529+2263A>T) c.1908T>A (p.Ala636=) c.27+2263A>T | |
| 6 | g.116120209G>A | CA365386438 | COL10A1,NT5DC1 | c.529+2264G>A (n.529+2264G>A) c.1907C>T (p.Ala636Val) c.27+2264G>A | gnomAD v4 |
| 6 | g.116120209G>C | CA365386439 | COL10A1,NT5DC1 | c.529+2264G>C (n.529+2264G>C) c.1907C>G (p.Ala636Gly) c.27+2264G>C | |
| 6 | g.116120209G>T | CA365386441 | COL10A1,NT5DC1 | c.529+2264G>T (n.529+2264G>T) c.1907C>A (p.Ala636Asp) c.27+2264G>T | gnomAD v4 |
| 6 | g.116120210C>A | CA365386445 | COL10A1,NT5DC1 | c.529+2265C>A (n.529+2265C>A) c.1906G>T (p.Ala636Ser) c.27+2265C>A | |
| 6 | g.116120210C>G | CA365386442 | COL10A1,NT5DC1 | c.529+2265C>G (n.529+2265C>G) c.1906G>C (p.Ala636Pro) c.27+2265C>G | |
| 6 | g.116120210C>T | CA365386443 | COL10A1,NT5DC1 | c.529+2265C>T (n.529+2265C>T) c.1906G>A (p.Ala636Thr) c.27+2265C>T | |
| 6 | g.116120211C>A | CA365386447 | COL10A1,NT5DC1 | c.529+2266C>A (n.529+2266C>A) c.1905G>T (p.Gln635His) c.27+2266C>A | |
| 6 | g.116120211C>G | CA365386450 | COL10A1,NT5DC1 | c.529+2266C>G (n.529+2266C>G) c.1905G>C (p.Gln635His) c.27+2266C>G | |
| 6 | g.116120211C>T | CA451899431 | COL10A1,NT5DC1 | c.529+2266C>T (n.529+2266C>T) c.1905G>A (p.Gln635=) c.27+2266C>T | |
| 6 | g.116120212T>A | CA365386452 | COL10A1,NT5DC1 | c.529+2267T>A (n.529+2267T>A) c.1904A>T (p.Gln635Leu) c.27+2267T>A | COSMIC |
| 6 | g.116120212T>C | CA365386454 | COL10A1,NT5DC1 | c.529+2267T>C (n.529+2267T>C) c.1904A>G (p.Gln635Arg) c.27+2267T>C | |
| 6 | g.116120212T>G | CA365386455 | COL10A1,NT5DC1 | c.529+2267T>G (n.529+2267T>G) c.1904A>C (p.Gln635Pro) c.27+2267T>G | |
| 6 | g.116120213G>A | CA365386456 | COL10A1,NT5DC1 | c.529+2268G>A (n.529+2268G>A) c.1903C>T (p.Gln635Ter) c.27+2268G>A | |
| 6 | g.116120213G>C | CA365386457 | COL10A1,NT5DC1 | c.529+2268G>C (n.529+2268G>C) c.1903C>G (p.Gln635Glu) c.27+2268G>C | |
| 6 | g.116120213G>T | CA365386459 | COL10A1,NT5DC1 | c.529+2268G>T (n.529+2268G>T) c.1903C>A (p.Gln635Lys) c.27+2268G>T | |
| 6 | g.116120214A= | CA1657093232 | COL10A1,NT5DC1 | c.529+2269A= (n.529+2269A=) c.1902T= (p.Asp634=) c.27+2269A= | |
| 6 | g.116120214A>C | CA365386461 | COL10A1,NT5DC1 | c.529+2269A>C (n.529+2269A>C) c.1902T>G (p.Asp634Glu) c.27+2269A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120214A>G | CA451899436 | COL10A1,NT5DC1 | c.529+2269A>G (n.529+2269A>G) c.1902T>C (p.Asp634=) c.27+2269A>G | |
| 6 | g.116120214A>T | CA365386468 | COL10A1,NT5DC1 | c.529+2269A>T (n.529+2269A>T) c.1902T>A (p.Asp634Glu) c.27+2269A>T | |
| 6 | g.116120215T>A | CA365386475 | COL10A1,NT5DC1 | c.529+2270T>A (n.529+2270T>A) c.1901A>T (p.Asp634Val) c.27+2270T>A | |
| 6 | g.116120215T>C | CA365386472 | COL10A1,NT5DC1 | c.529+2270T>C (n.529+2270T>C) c.1901A>G (p.Asp634Gly) c.27+2270T>C | gnomAD v4 |
| 6 | g.116120215T>G | CA365386470 | COL10A1,NT5DC1 | c.529+2270T>G (n.529+2270T>G) c.1901A>C (p.Asp634Ala) c.27+2270T>G | |
| 6 | g.116120216C>A | CA365386476 | COL10A1,NT5DC1 | c.529+2271C>A (n.529+2271C>A) c.1900G>T (p.Asp634Tyr) c.27+2271C>A | |
| 6 | g.116120216C>G | CA365386478 | COL10A1,NT5DC1 | c.529+2271C>G (n.529+2271C>G) c.1900G>C (p.Asp634His) c.27+2271C>G | |
| 6 | g.116120216C>T | CA365386477 | COL10A1,NT5DC1 | c.529+2271C>T (n.529+2271C>T) c.1900G>A (p.Asp634Asn) c.27+2271C>T | |
| 6 | g.116120217del | CA2580074795 | COL10A1,NT5DC1 | c.529+2272del (n.529+2272del) c.1900del (p.Asp634IlefsTer?) c.27+2272del | ClinVar |
| 6 | g.116120217C>A | CA451899437 | COL10A1,NT5DC1 | c.529+2272C>A (n.529+2272C>A) c.1899G>T (p.Leu633=) c.27+2272C>A | |
| 6 | g.116120217C= | CA1657093233 | COL10A1,NT5DC1 | c.529+2272C= (n.529+2272C=) c.1899G= (p.Leu633=) c.27+2272C= | |
| 6 | g.116120217C>G | CA451899439 | COL10A1,NT5DC1 | c.529+2272C>G (n.529+2272C>G) c.1899G>C (p.Leu633=) c.27+2272C>G | gnomAD v4 |
| 6 | g.116120217C>T | CA145908196 | COL10A1,NT5DC1 | c.529+2272C>T (n.529+2272C>T) c.1899G>A (p.Leu633=) c.27+2272C>T | dbSNP |
| 6 | g.116120218A= | CA1657093234 | COL10A1,NT5DC1 | c.529+2273A= (n.529+2273A=) c.1898T= (p.Leu633=) c.27+2273A= | |
| 6 | g.116120218A>C | CA365386479 | COL10A1,NT5DC1 | c.529+2273A>C (n.529+2273A>C) c.1898T>G (p.Leu633Arg) c.27+2273A>C | gnomAD v4 |
| 6 | g.116120218A>G | CA365386480 | COL10A1,NT5DC1 | c.529+2273A>G (n.529+2273A>G) c.1898T>C (p.Leu633Pro) c.27+2273A>G | dbSNP gnomAD v4 |
| 6 | g.116120218A>T | CA365386481 | COL10A1,NT5DC1 | c.529+2273A>T (n.529+2273A>T) c.1898T>A (p.Leu633Gln) c.27+2273A>T | |
| 6 | g.116120219G>A | CA451899441 | COL10A1,NT5DC1 | c.529+2274G>A (n.529+2274G>A) c.1897C>T (p.Leu633=) c.27+2274G>A | |
| 6 | g.116120219G>C | CA365386482 | COL10A1,NT5DC1 | c.529+2274G>C (n.529+2274G>C) c.1897C>G (p.Leu633Val) c.27+2274G>C | |
| 6 | g.116120219G>T | CA365386483 | COL10A1,NT5DC1 | c.529+2274G>T (n.529+2274G>T) c.1897C>A (p.Leu633Met) c.27+2274G>T | |
| 6 | g.116120220del | CA2573140415 | COL10A1,NT5DC1 | c.529+2275del (n.529+2275del) c.1897del (p.Leu633TrpfsTer?) c.27+2275del | ClinVar dbSNP |
| 6 | g.116120220G>A | CA451899442 | COL10A1,NT5DC1 | c.529+2275G>A (n.529+2275G>A) c.1896C>T (p.Tyr632=) c.27+2275G>A | gnomAD v4 |
| 6 | g.116120220G>C | CA365386484 | COL10A1,NT5DC1 | c.529+2275G>C (n.529+2275G>C) c.1896C>G (p.Tyr632Ter) c.27+2275G>C | ClinVar dbSNP |
| 6 | g.116120220G= | CA1657093235 | COL10A1,NT5DC1 | c.529+2275G= (n.529+2275G=) c.1896C= (p.Tyr632=) c.27+2275G= | |
| 6 | g.116120220G>T | CA127221 | COL10A1,NT5DC1 | c.529+2275G>T (n.529+2275G>T) c.1896C>A (p.Tyr632Ter) c.27+2275G>T | ClinVar dbSNP |
| 6 | g.116120221T>A | CA365386485 | COL10A1,NT5DC1 | c.529+2276T>A (n.529+2276T>A) c.1895A>T (p.Tyr632Phe) c.27+2276T>A | dbSNP gnomAD v4 |
| 6 | g.116120221T>C | CA3968094 | COL10A1,NT5DC1 | c.529+2276T>C (n.529+2276T>C) c.1895A>G (p.Tyr632Cys) c.27+2276T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120221T>G | CA365386486 | COL10A1,NT5DC1 | c.529+2276T>G (n.529+2276T>G) c.1895A>C (p.Tyr632Ser) c.27+2276T>G | |
| 6 | g.116120221T= | CA1657093236 | COL10A1,NT5DC1 | c.529+2276T= (n.529+2276T=) c.1895A= (p.Tyr632=) c.27+2276T= | |
| 6 | g.116120221_116120222dup | CA2695206889 | COL10A1,NT5DC1 | c.529+2276_529+2277dup (n.529+2276_529+2277dup) c.1894_1895dup (p.Leu633ThrfsTer?) c.27+2276_27+2277dup | |
| 6 | g.116120222A>C | CA365386489 | COL10A1,NT5DC1 | c.529+2277A>C (n.529+2277A>C) c.1894T>G (p.Tyr632Asp) c.27+2277A>C | gnomAD v4 |
| 6 | g.116120222A>G | CA365386488 | COL10A1,NT5DC1 | c.529+2277A>G (n.529+2277A>G) c.1894T>C (p.Tyr632His) c.27+2277A>G | |
| 6 | g.116120222A>T | CA365386487 | COL10A1,NT5DC1 | c.529+2277A>T (n.529+2277A>T) c.1894T>A (p.Tyr632Asn) c.27+2277A>T | |
| 6 | g.116120223G>A | CA451899446 | COL10A1,NT5DC1 | c.529+2278G>A (n.529+2278G>A) c.1893C>T (p.Gly631=) c.27+2278G>A | |
| 6 | g.116120223G>C | CA451899445 | COL10A1,NT5DC1 | c.529+2278G>C (n.529+2278G>C) c.1893C>G (p.Gly631=) c.27+2278G>C | |
| 6 | g.116120223G>T | CA451899443 | COL10A1,NT5DC1 | c.529+2278G>T (n.529+2278G>T) c.1893C>A (p.Gly631=) c.27+2278G>T | |
| 6 | g.116120224C>A | CA365386490 | COL10A1,NT5DC1 | c.529+2279C>A (n.529+2279C>A) c.1892G>T (p.Gly631Val) c.27+2279C>A | |
| 6 | g.116120224C= | CA1657093237 | COL10A1,NT5DC1 | c.529+2279C= (n.529+2279C=) c.1892G= (p.Gly631=) c.27+2279C= | |
| 6 | g.116120224C>G | CA145908232 | COL10A1,NT5DC1 | c.529+2279C>G (n.529+2279C>G) c.1892G>C (p.Gly631Ala) c.27+2279C>G | dbSNP gnomAD v2 |
| 6 | g.116120224C>T | CA365386491 | COL10A1,NT5DC1 | c.529+2279C>T (n.529+2279C>T) c.1892G>A (p.Gly631Asp) c.27+2279C>T | |
| 6 | g.116120225C>A | CA365386492 | COL10A1,NT5DC1 | c.529+2280C>A (n.529+2280C>A) c.1891G>T (p.Gly631Cys) c.27+2280C>A | COSMIC |
| 6 | g.116120225C>G | CA365386493 | COL10A1,NT5DC1 | c.529+2280C>G (n.529+2280C>G) c.1891G>C (p.Gly631Arg) c.27+2280C>G | |
| 6 | g.116120225C>T | CA365386495 | COL10A1,NT5DC1 | c.529+2280C>T (n.529+2280C>T) c.1891G>A (p.Gly631Ser) c.27+2280C>T | COSMIC |