| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 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 |