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.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 |
| 6 | g.116120226T>A | CA365386496 | COL10A1,NT5DC1 | c.529+2281T>A (n.529+2281T>A) c.1890A>T (p.Lys630Asn) c.27+2281T>A | |
| 6 | g.116120226T>C | CA451899449 | COL10A1,NT5DC1 | c.529+2281T>C (n.529+2281T>C) c.1890A>G (p.Lys630=) c.27+2281T>C | |
| 6 | g.116120226T>G | CA365386497 | COL10A1,NT5DC1 | c.529+2281T>G (n.529+2281T>G) c.1890A>C (p.Lys630Asn) c.27+2281T>G | |
| 6 | g.116120228del | CA2573140416 | COL10A1,NT5DC1 | c.529+2283del (n.529+2283del) c.1890del (p.Gly631AlafsTer?) c.27+2283del | ClinVar dbSNP |
| 6 | g.116120227T>A | CA365386500 | COL10A1,NT5DC1 | c.529+2282T>A (n.529+2282T>A) c.1889A>T (p.Lys630Ile) c.27+2282T>A | dbSNP |
| 6 | g.116120227T>C | CA365386501 | COL10A1,NT5DC1 | c.529+2282T>C (n.529+2282T>C) c.1889A>G (p.Lys630Arg) c.27+2282T>C | |
| 6 | g.116120227T>G | CA365386502 | COL10A1,NT5DC1 | c.529+2282T>G (n.529+2282T>G) c.1889A>C (p.Lys630Thr) c.27+2282T>G | |
| 6 | g.116120227T= | CA1657093238 | COL10A1,NT5DC1 | c.529+2282T= (n.529+2282T=) c.1889A= (p.Lys630=) c.27+2282T= | |
| 6 | g.116120228T>A | CA365386506 | COL10A1,NT5DC1 | c.529+2283T>A (n.529+2283T>A) c.1888A>T (p.Lys630Ter) c.27+2283T>A | |
| 6 | g.116120228T>C | CA3968095 | COL10A1,NT5DC1 | c.529+2283T>C (n.529+2283T>C) c.1888A>G (p.Lys630Glu) c.27+2283T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120228T>G | CA365386504 | COL10A1,NT5DC1 | c.529+2283T>G (n.529+2283T>G) c.1888A>C (p.Lys630Gln) c.27+2283T>G | |
| 6 | g.116120228T= | CA1657093239 | COL10A1,NT5DC1 | c.529+2283T= (n.529+2283T=) c.1888A= (p.Lys630=) c.27+2283T= | |
| 6 | g.116120229G>A | CA451899451 | COL10A1,NT5DC1 | c.529+2284G>A (n.529+2284G>A) c.1887C>T (p.Thr629=) c.27+2284G>A | |
| 6 | g.116120229G>C | CA451899453 | COL10A1,NT5DC1 | c.529+2284G>C (n.529+2284G>C) c.1887C>G (p.Thr629=) c.27+2284G>C | |
| 6 | g.116120229G>T | CA451899452 | COL10A1,NT5DC1 | c.529+2284G>T (n.529+2284G>T) c.1887C>A (p.Thr629=) c.27+2284G>T | ClinVar dbSNP |
| 6 | g.116120230G>A | CA145908260 | COL10A1,NT5DC1 | c.529+2285G>A (n.529+2285G>A) c.1886C>T (p.Thr629Ile) c.27+2285G>A | dbSNP |
| 6 | g.116120230G>C | CA365386512 | COL10A1,NT5DC1 | c.529+2285G>C (n.529+2285G>C) c.1886C>G (p.Thr629Ser) c.27+2285G>C | |
| 6 | g.116120230G= | CA1657093240 | COL10A1,NT5DC1 | c.529+2285G= (n.529+2285G=) c.1886C= (p.Thr629=) c.27+2285G= | |
| 6 | g.116120230G>T | CA365386514 | COL10A1,NT5DC1 | c.529+2285G>T (n.529+2285G>T) c.1886C>A (p.Thr629Asn) c.27+2285G>T | gnomAD v4 |
| 6 | g.116120231T>A | CA365386515 | COL10A1,NT5DC1 | c.529+2286T>A (n.529+2286T>A) c.1885A>T (p.Thr629Ser) c.27+2286T>A | |
| 6 | g.116120231T>C | CA365386517 | COL10A1,NT5DC1 | c.529+2286T>C (n.529+2286T>C) c.1885A>G (p.Thr629Ala) c.27+2286T>C | gnomAD v4 |
| 6 | g.116120231T>G | CA365386519 | COL10A1,NT5DC1 | c.529+2286T>G (n.529+2286T>G) c.1885A>C (p.Thr629Pro) c.27+2286T>G | |
| 6 | g.116120232G>A | CA451899455 | COL10A1,NT5DC1 | c.529+2287G>A (n.529+2287G>A) c.1884C>T (p.Tyr628=) c.27+2287G>A | gnomAD v4 |
| 6 | g.116120232G>C | CA127213 | COL10A1,NT5DC1 | c.529+2287G>C (n.529+2287G>C) c.1884C>G (p.Tyr628Ter) c.27+2287G>C | ClinVar dbSNP |
| 6 | g.116120232G= | CA1657093241 | COL10A1,NT5DC1 | c.529+2287G= (n.529+2287G=) c.1884C= (p.Tyr628=) c.27+2287G= | |
| 6 | g.116120232G>T | CA365386521 | COL10A1,NT5DC1 | c.529+2287G>T (n.529+2287G>T) c.1884C>A (p.Tyr628Ter) c.27+2287G>T | |
| 6 | g.116120233T>A | CA365386523 | COL10A1,NT5DC1 | c.529+2288T>A (n.529+2288T>A) c.1883A>T (p.Tyr628Phe) c.27+2288T>A | |
| 6 | g.116120233T>C | CA365386525 | COL10A1,NT5DC1 | c.529+2288T>C (n.529+2288T>C) c.1883A>G (p.Tyr628Cys) c.27+2288T>C | |
| 6 | g.116120233T>G | CA365386526 | COL10A1,NT5DC1 | c.529+2288T>G (n.529+2288T>G) c.1883A>C (p.Tyr628Ser) c.27+2288T>G | |
| 6 | g.116120234A= | CA1657093242 | COL10A1,NT5DC1 | c.529+2289A= (n.529+2289A=) c.1882T= (p.Tyr628=) c.27+2289A= | |
| 6 | g.116120234A>C | CA365386531 | COL10A1,NT5DC1 | c.529+2289A>C (n.529+2289A>C) c.1882T>G (p.Tyr628Asp) c.27+2289A>C | |
| 6 | g.116120234A>G | CA3968096 | COL10A1,NT5DC1 | c.529+2289A>G (n.529+2289A>G) c.1882T>C (p.Tyr628His) c.27+2289A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120234A>T | CA365386528 | COL10A1,NT5DC1 | c.529+2289A>T (n.529+2289A>T) c.1882T>A (p.Tyr628Asn) c.27+2289A>T | |
| 6 | g.116120235T>A | CA365386533 | COL10A1,NT5DC1 | c.529+2290T>A (n.529+2290T>A) c.1881A>T (p.Glu627Asp) c.27+2290T>A | |
| 6 | g.116120235T>C | CA451899458 | COL10A1,NT5DC1 | c.529+2290T>C (n.529+2290T>C) c.1881A>G (p.Glu627=) c.27+2290T>C | |
| 6 | g.116120235T>G | CA365386535 | COL10A1,NT5DC1 | c.529+2290T>G (n.529+2290T>G) c.1881A>C (p.Glu627Asp) c.27+2290T>G | |
| 6 | g.116120236T>A | CA365386537 | COL10A1,NT5DC1 | c.529+2291T>A (n.529+2291T>A) c.1880A>T (p.Glu627Val) c.27+2291T>A | |
| 6 | g.116120236T>C | CA365386538 | COL10A1,NT5DC1 | c.529+2291T>C (n.529+2291T>C) c.1880A>G (p.Glu627Gly) c.27+2291T>C | |
| 6 | g.116120236T>G | CA365386539 | COL10A1,NT5DC1 | c.529+2291T>G (n.529+2291T>G) c.1880A>C (p.Glu627Ala) c.27+2291T>G | |
| 6 | g.116120237C>A | CA365386541 | COL10A1,NT5DC1 | c.529+2292C>A (n.529+2292C>A) c.1879G>T (p.Glu627Ter) c.27+2292C>A |