WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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 |