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 | |
| 6 | g.116120237C= | CA1657093243 | COL10A1,NT5DC1 | c.529+2292C= (n.529+2292C=) c.1879G= (p.Glu627=) c.27+2292C= | |
| 6 | g.116120237C>G | CA365386543 | COL10A1,NT5DC1 | c.529+2292C>G (n.529+2292C>G) c.1879G>C (p.Glu627Gln) c.27+2292C>G | |
| 6 | g.116120237C>T | CA365386549 | COL10A1,NT5DC1 | c.529+2292C>T (n.529+2292C>T) c.1879G>A (p.Glu627Lys) c.27+2292C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120238A>C | CA365386551 | COL10A1,NT5DC1 | c.529+2293A>C (n.529+2293A>C) c.1878T>G (p.Asp626Glu) c.27+2293A>C | |
| 6 | g.116120238A>G | CA451899459 | COL10A1,NT5DC1 | c.529+2293A>G (n.529+2293A>G) c.1878T>C (p.Asp626=) c.27+2293A>G | |
| 6 | g.116120238A>T | CA365386552 | COL10A1,NT5DC1 | c.529+2293A>T (n.529+2293A>T) c.1878T>A (p.Asp626Glu) c.27+2293A>T | |
| 6 | g.116120239T>A | CA365386554 | COL10A1,NT5DC1 | c.529+2294T>A (n.529+2294T>A) c.1877A>T (p.Asp626Val) c.27+2294T>A | |
| 6 | g.116120239T>C | CA365386556 | COL10A1,NT5DC1 | c.529+2294T>C (n.529+2294T>C) c.1877A>G (p.Asp626Gly) c.27+2294T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120239T>G | CA365386557 | COL10A1,NT5DC1 | c.529+2294T>G (n.529+2294T>G) c.1877A>C (p.Asp626Ala) c.27+2294T>G | |
| 6 | g.116120239T= | CA1657093244 | COL10A1,NT5DC1 | c.529+2294T= (n.529+2294T=) c.1877A= (p.Asp626=) c.27+2294T= | |
| 6 | g.116120240C>A | CA3968097 | COL10A1,NT5DC1 | c.529+2295C>A (n.529+2295C>A) c.1876G>T (p.Asp626Tyr) c.27+2295C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120240C= | CA1657093245 | COL10A1,NT5DC1 | c.529+2295C= (n.529+2295C=) c.1876G= (p.Asp626=) c.27+2295C= | |
| 6 | g.116120240C>G | CA365386559 | COL10A1,NT5DC1 | c.529+2295C>G (n.529+2295C>G) c.1876G>C (p.Asp626His) c.27+2295C>G | |
| 6 | g.116120240C>T | CA3968098 | COL10A1,NT5DC1 | c.529+2295C>T (n.529+2295C>T) c.1876G>A (p.Asp626Asn) c.27+2295C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120243_116120252del | CA2573140417 | COL10A1,NT5DC1 | c.529+2298_529+2307del (n.529+2298_529+2307del) c.1867_1876del (p.Tyr623MetfsTer?) c.27+2298_27+2307del | ClinVar dbSNP |
| 6 | g.116120241A= | CA1657093246 | COL10A1,NT5DC1 | c.529+2296A= (n.529+2296A=) c.1875T= (p.Tyr625=) c.27+2296A= | |
| 6 | g.116120241A>C | CA365386560 | COL10A1,NT5DC1 | c.529+2296A>C (n.529+2296A>C) c.1875T>G (p.Tyr625Ter) c.27+2296A>C | |
| 6 | g.116120241A>G | CA3968099 | COL10A1,NT5DC1 | c.529+2296A>G (n.529+2296A>G) c.1875T>C (p.Tyr625=) c.27+2296A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120241A>T | CA365386561 | COL10A1,NT5DC1 | c.529+2296A>T (n.529+2296A>T) c.1875T>A (p.Tyr625Ter) c.27+2296A>T | ClinVar dbSNP |
| 6 | g.116120242T>A | CA365386562 | COL10A1,NT5DC1 | c.529+2297T>A (n.529+2297T>A) c.1874A>T (p.Tyr625Phe) c.27+2297T>A | |
| 6 | g.116120242T>C | CA365386564 | COL10A1,NT5DC1 | c.529+2297T>C (n.529+2297T>C) c.1874A>G (p.Tyr625Cys) c.27+2297T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120242T>G | CA365386565 | COL10A1,NT5DC1 | c.529+2297T>G (n.529+2297T>G) c.1874A>C (p.Tyr625Ser) c.27+2297T>G | |
| 6 | g.116120242T= | CA1657093247 | COL10A1,NT5DC1 | c.529+2297T= (n.529+2297T=) c.1874A= (p.Tyr625=) c.27+2297T= | |
| 6 | g.116120243A= | CA1657093248 | COL10A1,NT5DC1 | c.529+2298A= (n.529+2298A=) c.1873T= (p.Tyr625=) c.27+2298A= | |
| 6 | g.116120243A>C | CA365386567 | COL10A1,NT5DC1 | c.529+2298A>C (n.529+2298A>C) c.1873T>G (p.Tyr625Asp) c.27+2298A>C | |
| 6 | g.116120243A>G | CA365386568 | COL10A1,NT5DC1 | c.529+2298A>G (n.529+2298A>G) c.1873T>C (p.Tyr625His) c.27+2298A>G | dbSNP gnomAD v2 |
| 6 | g.116120243A>T | CA365386570 | COL10A1,NT5DC1 | c.529+2298A>T (n.529+2298A>T) c.1873T>A (p.Tyr625Asn) c.27+2298A>T | |
| 6 | g.116120244G>A | CA451899465 | COL10A1,NT5DC1 | c.529+2299G>A (n.529+2299G>A) c.1872C>T (p.Thr624=) c.27+2299G>A | |
| 6 | g.116120244G>C | CA451899466 | COL10A1,NT5DC1 | c.529+2299G>C (n.529+2299G>C) c.1872C>G (p.Thr624=) c.27+2299G>C | |
| 6 | g.116120244G>T | CA451899468 | COL10A1,NT5DC1 | c.529+2299G>T (n.529+2299G>T) c.1872C>A (p.Thr624=) c.27+2299G>T | |
| 6 | g.116120245G>A | CA365386571 | COL10A1,NT5DC1 | c.529+2300G>A (n.529+2300G>A) c.1871C>T (p.Thr624Ile) c.27+2300G>A | gnomAD v4 |
| 6 | g.116120245G>C | CA365386572 | COL10A1,NT5DC1 | c.529+2300G>C (n.529+2300G>C) c.1871C>G (p.Thr624Ser) c.27+2300G>C | |
| 6 | g.116120245G>T | CA365386574 | COL10A1,NT5DC1 | c.529+2300G>T (n.529+2300G>T) c.1871C>A (p.Thr624Asn) c.27+2300G>T | |
| 6 | g.116120247_116120248del | CA2695206890 | COL10A1,NT5DC1 | c.529+2302_529+2303del (n.529+2302_529+2303del) c.1870_1871del (p.Thr624LeufsTer2) c.27+2302_27+2303del | |
| 6 | g.116120246T>A | CA365386576 | COL10A1,NT5DC1 | c.529+2301T>A (n.529+2301T>A) c.1870A>T (p.Thr624Ser) c.27+2301T>A | dbSNP gnomAD v4 |
| 6 | g.116120246T>C | CA365386578 | COL10A1,NT5DC1 | c.529+2301T>C (n.529+2301T>C) c.1870A>G (p.Thr624Ala) c.27+2301T>C | COSMIC |
| 6 | g.116120246T>G | CA365386579 | COL10A1,NT5DC1 | c.529+2301T>G (n.529+2301T>G) c.1870A>C (p.Thr624Pro) c.27+2301T>G | |
| 6 | g.116120246T= | CA1657093249 | COL10A1,NT5DC1 | c.529+2301T= (n.529+2301T=) c.1870A= (p.Thr624=) c.27+2301T= | |
| 6 | g.116120247G>A | CA451899470 | COL10A1,NT5DC1 | c.529+2302G>A (n.529+2302G>A) c.1869C>T (p.Tyr623=) c.27+2302G>A | gnomAD v4 |
| 6 | g.116120247G>C | CA365386582 | COL10A1,NT5DC1 | c.529+2302G>C (n.529+2302G>C) c.1869C>G (p.Tyr623Ter) c.27+2302G>C | ClinVar |
| 6 | g.116120247G>T | CA365386580 | COL10A1,NT5DC1 | c.529+2302G>T (n.529+2302G>T) c.1869C>A (p.Tyr623Ter) c.27+2302G>T | ClinVar dbSNP |
| 6 | g.116120249_116120261del | CA2580074797 | COL10A1,NT5DC1 | c.529+2304_529+2316del (n.529+2304_529+2316del) c.1857_1869del (p.Val621MetfsTer?) c.27+2304_27+2316del | ClinVar |
| 6 | g.116120248T>A | CA365386584 | COL10A1,NT5DC1 | c.529+2303T>A (n.529+2303T>A) c.1868A>T (p.Tyr623Phe) c.27+2303T>A | |
| 6 | g.116120248T>C | CA365386586 | COL10A1,NT5DC1 | c.529+2303T>C (n.529+2303T>C) c.1868A>G (p.Tyr623Cys) c.27+2303T>C | |
| 6 | g.116120248T>G | CA365386587 | COL10A1,NT5DC1 | c.529+2303T>G (n.529+2303T>G) c.1868A>C (p.Tyr623Ser) c.27+2303T>G | |
| 6 | g.116120249A>C | CA365386589 | COL10A1,NT5DC1 | c.529+2304A>C (n.529+2304A>C) c.1867T>G (p.Tyr623Asp) c.27+2304A>C | |
| 6 | g.116120249A>G | CA365386590 | COL10A1,NT5DC1 | c.529+2304A>G (n.529+2304A>G) c.1867T>C (p.Tyr623His) c.27+2304A>G | |
| 6 | g.116120249A>T | CA365386592 | COL10A1,NT5DC1 | c.529+2304A>T (n.529+2304A>T) c.1867T>A (p.Tyr623Asn) c.27+2304A>T | ClinVar |
| 6 | g.116120250C>A | CA365386593 | COL10A1,NT5DC1 | c.529+2305C>A (n.529+2305C>A) c.1866G>T (p.Met622Ile) c.27+2305C>A | |
| 6 | g.116120250C>G | CA365386594 | COL10A1,NT5DC1 | c.529+2305C>G (n.529+2305C>G) c.1866G>C (p.Met622Ile) c.27+2305C>G | |
| 6 | g.116120250C>T | CA365386598 | COL10A1,NT5DC1 | c.529+2305C>T (n.529+2305C>T) c.1866G>A (p.Met622Ile) c.27+2305C>T | |
| 6 | g.116120250_116120253del | CA2695206891 | COL10A1,NT5DC1 | c.529+2305_529+2308del (n.529+2305_529+2308del) c.1863_1866del (p.Met622ThrfsTer?) c.27+2305_27+2308del | |
| 6 | g.116120254_116120267del | CA2573140418 | COL10A1,NT5DC1 | c.529+2309_529+2322del (n.529+2309_529+2322del) c.1853_1866del (p.Gly618ValfsTer4) c.27+2309_27+2322del | ClinVar dbSNP |
| 6 | g.116120251A= | CA1657093250 | COL10A1,NT5DC1 | c.529+2306A= (n.529+2306A=) c.1865T= (p.Met622=) c.27+2306A= | |
| 6 | g.116120251A>C | CA365386599 | COL10A1,NT5DC1 | c.529+2306A>C (n.529+2306A>C) c.1865T>G (p.Met622Arg) c.27+2306A>C | gnomAD v4 |
| 6 | g.116120251A>G | CA365386601 | COL10A1,NT5DC1 | c.529+2306A>G (n.529+2306A>G) c.1865T>C (p.Met622Thr) c.27+2306A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120251A>T | CA365386603 | COL10A1,NT5DC1 | c.529+2306A>T (n.529+2306A>T) c.1865T>A (p.Met622Lys) c.27+2306A>T | |
| 6 | g.116120251_116120258del | CA2695206892 | COL10A1,NT5DC1 | c.529+2306_529+2313del (n.529+2306_529+2313del) c.1858_1865del (p.Pro620ValfsTer4) c.27+2306_27+2313del | |
| 6 | g.116120252T>A | CA365386608 | COL10A1,NT5DC1 | c.529+2307T>A (n.529+2307T>A) c.1864A>T (p.Met622Leu) c.27+2307T>A | |
| 6 | g.116120252T>C | CA365386607 | COL10A1,NT5DC1 | c.529+2307T>C (n.529+2307T>C) c.1864A>G (p.Met622Val) c.27+2307T>C | |
| 6 | g.116120252T>G | CA365386605 | COL10A1,NT5DC1 | c.529+2307T>G (n.529+2307T>G) c.1864A>C (p.Met622Leu) c.27+2307T>G | |
| 6 | g.116120253T>A | CA451899476 | COL10A1,NT5DC1 | c.529+2308T>A (n.529+2308T>A) c.1863A>T (p.Val621=) c.27+2308T>A | |
| 6 | g.116120253T>C | CA451899477 | COL10A1,NT5DC1 | c.529+2308T>C (n.529+2308T>C) c.1863A>G (p.Val621=) c.27+2308T>C | |
| 6 | g.116120253T>G | CA451899478 | COL10A1,NT5DC1 | c.529+2308T>G (n.529+2308T>G) c.1863A>C (p.Val621=) c.27+2308T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120253T= | CA1657093251 | COL10A1,NT5DC1 | c.529+2308T= (n.529+2308T=) c.1863A= (p.Val621=) c.27+2308T= | |
| 6 | g.116120254A>C | CA365386610 | COL10A1,NT5DC1 | c.529+2309A>C (n.529+2309A>C) c.1862T>G (p.Val621Gly) c.27+2309A>C | |
| 6 | g.116120254A>G | CA365386611 | COL10A1,NT5DC1 | c.529+2309A>G (n.529+2309A>G) c.1862T>C (p.Val621Ala) c.27+2309A>G | gnomAD v4 |
| 6 | g.116120254A>T | CA365386612 | COL10A1,NT5DC1 | c.529+2309A>T (n.529+2309A>T) c.1862T>A (p.Val621Glu) c.27+2309A>T | |
| 6 | g.116120255C>A | CA365386613 | COL10A1,NT5DC1 | c.529+2310C>A (n.529+2310C>A) c.1861G>T (p.Val621Leu) c.27+2310C>A | |
| 6 | g.116120255C>G | CA365386615 | COL10A1,NT5DC1 | c.529+2310C>G (n.529+2310C>G) c.1861G>C (p.Val621Leu) c.27+2310C>G | gnomAD v4 |
| 6 | g.116120255C>T | CA365386617 | COL10A1,NT5DC1 | c.529+2310C>T (n.529+2310C>T) c.1861G>A (p.Val621Ile) c.27+2310C>T | ClinVar |
| 6 | g.116120256del | CA2695206893 | COL10A1,NT5DC1 | c.529+2311del (n.529+2311del) c.1860del (p.Val621Ter) c.27+2311del | |
| 6 | g.116120256A>C | CA451899481 | COL10A1,NT5DC1 | c.529+2311A>C (n.529+2311A>C) c.1860T>G (p.Pro620=) c.27+2311A>C | |
| 6 | g.116120256A>G | CA451899482 | COL10A1,NT5DC1 | c.529+2311A>G (n.529+2311A>G) c.1860T>C (p.Pro620=) c.27+2311A>G | |
| 6 | g.116120256A>T | CA451899483 | COL10A1,NT5DC1 | c.529+2311A>T (n.529+2311A>T) c.1860T>A (p.Pro620=) c.27+2311A>T | |
| 6 | g.116120256_116120258delinsAGG | CA1657093252 | COL10A1,NT5DC1 | c.529+2311_529+2313delinsAGG (n.529+2311_529+2313delinsAGG) c.1858_1860delinsCCT (p.Pro620=) c.27+2311_27+2313delinsAGG | |
| 6 | g.116120257G>A | CA365386619 | COL10A1,NT5DC1 | c.529+2312G>A (n.529+2312G>A) c.1859C>T (p.Pro620Leu) c.27+2312G>A | ClinVar |
| 6 | g.116120257G>C | CA365386620 | COL10A1,NT5DC1 | c.529+2312G>C (n.529+2312G>C) c.1859C>G (p.Pro620Arg) c.27+2312G>C | |
| 6 | g.116120257G>T | CA365386622 | COL10A1,NT5DC1 | c.529+2312G>T (n.529+2312G>T) c.1859C>A (p.Pro620His) c.27+2312G>T | |
| 6 | g.116120260del | CA2573140419 | COL10A1,NT5DC1 | c.529+2315del (n.529+2315del) c.1859del (p.Pro620LeufsTer2) c.27+2315del | ClinVar dbSNP |
| 6 | g.116120259_116120260del | CA913189509 | COL10A1,NT5DC1 | c.529+2314_529+2315del (n.529+2314_529+2315del) c.1858_1859del (p.Pro620CysfsTer6) c.27+2314_27+2315del | ClinVar dbSNP |
| 6 | g.116120258G>A | CA365386623 | COL10A1,NT5DC1 | c.529+2313G>A (n.529+2313G>A) c.1858C>T (p.Pro620Ser) c.27+2313G>A | gnomAD v4 |
| 6 | g.116120258G>C | CA365386625 | COL10A1,NT5DC1 | c.529+2313G>C (n.529+2313G>C) c.1858C>G (p.Pro620Ala) c.27+2313G>C | |
| 6 | g.116120258G>T | CA365386627 | COL10A1,NT5DC1 | c.529+2313G>T (n.529+2313G>T) c.1858C>A (p.Pro620Thr) c.27+2313G>T | |
| 6 | g.116120259G>A | CA451899487 | COL10A1,NT5DC1 | c.529+2314G>A (n.529+2314G>A) c.1857C>T (p.Thr619=) c.27+2314G>A | |
| 6 | g.116120259G>C | CA451899489 | COL10A1,NT5DC1 | c.529+2314G>C (n.529+2314G>C) c.1857C>G (p.Thr619=) c.27+2314G>C | |
| 6 | g.116120259G>T | CA451899488 | COL10A1,NT5DC1 | c.529+2314G>T (n.529+2314G>T) c.1857C>A (p.Thr619=) c.27+2314G>T | |
| 6 | g.116120260G>A | CA365386631 | COL10A1,NT5DC1 | c.529+2315G>A (n.529+2315G>A) c.1856C>T (p.Thr619Ile) c.27+2315G>A | |
| 6 | g.116120260G>C | CA3968100 | COL10A1,NT5DC1 | c.529+2315G>C (n.529+2315G>C) c.1856C>G (p.Thr619Ser) c.27+2315G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120260G= | CA1657093253 | COL10A1,NT5DC1 | c.529+2315G= (n.529+2315G=) c.1856C= (p.Thr619=) c.27+2315G= | |
| 6 | g.116120260G>T | CA365386630 | COL10A1,NT5DC1 | c.529+2315G>T (n.529+2315G>T) c.1856C>A (p.Thr619Asn) c.27+2315G>T | ClinVar dbSNP |
| 6 | g.116120261T>A | CA365386633 | COL10A1,NT5DC1 | c.529+2316T>A (n.529+2316T>A) c.1855A>T (p.Thr619Ser) c.27+2316T>A | |
| 6 | g.116120261T>C | CA365386635 | COL10A1,NT5DC1 | c.529+2316T>C (n.529+2316T>C) c.1855A>G (p.Thr619Ala) c.27+2316T>C | |
| 6 | g.116120261T>G | CA365386636 | COL10A1,NT5DC1 | c.529+2316T>G (n.529+2316T>G) c.1855A>C (p.Thr619Pro) c.27+2316T>G | |
| 6 | g.116120262G>A | CA451899494 | COL10A1,NT5DC1 | c.529+2317G>A (n.529+2317G>A) c.1854C>T (p.Gly618=) c.27+2317G>A | |
| 6 | g.116120262G>C | CA451899495 | COL10A1,NT5DC1 | c.529+2317G>C (n.529+2317G>C) c.1854C>G (p.Gly618=) c.27+2317G>C | |
| 6 | g.116120262G>T | CA451899496 | COL10A1,NT5DC1 | c.529+2317G>T (n.529+2317G>T) c.1854C>A (p.Gly618=) c.27+2317G>T | |
| 6 | g.116120263C>A | CA365386638 | COL10A1,NT5DC1 | c.529+2318C>A (n.529+2318C>A) c.1853G>T (p.Gly618Val) c.27+2318C>A | ClinVar dbSNP |
| 6 | g.116120263C>G | CA365386639 | COL10A1,NT5DC1 | c.529+2318C>G (n.529+2318C>G) c.1853G>C (p.Gly618Ala) c.27+2318C>G | |
| 6 | g.116120263C>T | CA365386640 | COL10A1,NT5DC1 | c.529+2318C>T (n.529+2318C>T) c.1853G>A (p.Gly618Asp) c.27+2318C>T | COSMIC |
| 6 | g.116120264C>A | CA3968101 | COL10A1,NT5DC1 | c.529+2319C>A (n.529+2319C>A) c.1852G>T (p.Gly618Cys) c.27+2319C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120264C= | CA1657093254 | COL10A1,NT5DC1 | c.529+2319C= (n.529+2319C=) c.1852G= (p.Gly618=) c.27+2319C= | |
| 6 | g.116120264C>G | CA365386643 | COL10A1,NT5DC1 | c.529+2319C>G (n.529+2319C>G) c.1852G>C (p.Gly618Arg) c.27+2319C>G | |
| 6 | g.116120264C>T | CA365386645 | COL10A1,NT5DC1 | c.529+2319C>T (n.529+2319C>T) c.1852G>A (p.Gly618Ser) c.27+2319C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120265A= | CA1657093255 | COL10A1,NT5DC1 | c.529+2320A= (n.529+2320A=) c.1851T= (p.Asn617=) c.27+2320A= | |
| 6 | g.116120265A>C | CA365386646 | COL10A1,NT5DC1 | c.529+2320A>C (n.529+2320A>C) c.1851T>G (p.Asn617Lys) c.27+2320A>C | |
| 6 | g.116120265A>G | CA3968102 | COL10A1,NT5DC1 | c.529+2320A>G (n.529+2320A>G) c.1851T>C (p.Asn617=) c.27+2320A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120265A>T | CA365386648 | COL10A1,NT5DC1 | c.529+2320A>T (n.529+2320A>T) c.1851T>A (p.Asn617Lys) c.27+2320A>T | |
| 6 | g.116120265_116120266insGAA | CA2580074798 | COL10A1,NT5DC1 | c.529+2320_529+2321insGAA (n.529+2320_529+2321insGAA) c.1851_1852insTCT (p.Asn617_Gly618insSer) c.27+2320_27+2321insGAA | ClinVar |
| 6 | g.116120266T>A | CA365386651 | COL10A1,NT5DC1 | c.529+2321T>A (n.529+2321T>A) c.1850A>T (p.Asn617Ile) c.27+2321T>A | |
| 6 | g.116120266T>C | CA365386653 | COL10A1,NT5DC1 | c.529+2321T>C (n.529+2321T>C) c.1850A>G (p.Asn617Ser) c.27+2321T>C | |
| 6 | g.116120266T>G | CA365386650 | COL10A1,NT5DC1 | c.529+2321T>G (n.529+2321T>G) c.1850A>C (p.Asn617Thr) c.27+2321T>G | |
| 6 | g.116120267T>A | CA365386658 | COL10A1,NT5DC1 | c.529+2322T>A (n.529+2322T>A) c.1849A>T (p.Asn617Tyr) c.27+2322T>A | |
| 6 | g.116120267T>C | CA365386655 | COL10A1,NT5DC1 | c.529+2322T>C (n.529+2322T>C) c.1849A>G (p.Asn617Asp) c.27+2322T>C | |
| 6 | g.116120267T>G | CA365386657 | COL10A1,NT5DC1 | c.529+2322T>G (n.529+2322T>G) c.1849A>C (p.Asn617His) c.27+2322T>G | |
| 6 | g.116120268_116120280del | CA2580074799 | COL10A1,NT5DC1 | c.529+2323_529+2335del (n.529+2323_529+2335del) c.1837_1849del (p.Gly613MetfsTer5) c.27+2323_27+2335del | ClinVar |
| 6 | g.116120268C>A | CA365386659 | COL10A1,NT5DC1 | c.529+2323C>A (n.529+2323C>A) c.1848G>T (p.Lys616Asn) c.27+2323C>A | |
| 6 | g.116120268C>G | CA365386661 | COL10A1,NT5DC1 | c.529+2323C>G (n.529+2323C>G) c.1848G>C (p.Lys616Asn) c.27+2323C>G | |
| 6 | g.116120268C>T | CA451899391 | COL10A1,NT5DC1 | c.529+2323C>T (n.529+2323C>T) c.1848G>A (p.Lys616=) c.27+2323C>T | gnomAD v4 |
| 6 | g.116120269T>A | CA3968103 | COL10A1,NT5DC1 | c.529+2324T>A (n.529+2324T>A) c.1847A>T (p.Lys616Met) c.27+2324T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120269T>C | CA365386663 | COL10A1,NT5DC1 | c.529+2324T>C (n.529+2324T>C) c.1847A>G (p.Lys616Arg) c.27+2324T>C | |
| 6 | g.116120269T>G | CA365386664 | COL10A1,NT5DC1 | c.529+2324T>G (n.529+2324T>G) c.1847A>C (p.Lys616Thr) c.27+2324T>G | |
| 6 | g.116120269T= | CA1657093256 | COL10A1,NT5DC1 | c.529+2324T= (n.529+2324T=) c.1847A= (p.Lys616=) c.27+2324T= | |
| 6 | g.116120270T>A | CA365386665 | COL10A1,NT5DC1 | c.529+2325T>A (n.529+2325T>A) c.1846A>T (p.Lys616Ter) c.27+2325T>A | |
| 6 | g.116120270T>C | CA365386666 | COL10A1,NT5DC1 | c.529+2325T>C (n.529+2325T>C) c.1846A>G (p.Lys616Glu) c.27+2325T>C | |
| 6 | g.116120270T>G | CA365386667 | COL10A1,NT5DC1 | c.529+2325T>G (n.529+2325T>G) c.1846A>C (p.Lys616Gln) c.27+2325T>G | |
| 6 | g.116120271A= | CA1657093257 | COL10A1,NT5DC1 | c.529+2326A= (n.529+2326A=) c.1845T= (p.Tyr615=) c.27+2326A= | |
| 6 | g.116120271A>C | CA365386668 | COL10A1,NT5DC1 | c.529+2326A>C (n.529+2326A>C) c.1845T>G (p.Tyr615Ter) c.27+2326A>C | |
| 6 | g.116120271A>G | CA3968104 | COL10A1,NT5DC1 | c.529+2326A>G (n.529+2326A>G) c.1845T>C (p.Tyr615=) c.27+2326A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120271A>T | CA365386670 | COL10A1,NT5DC1 | c.529+2326A>T (n.529+2326A>T) c.1845T>A (p.Tyr615Ter) c.27+2326A>T | |
| 6 | g.116120271dup | CA2740097850 | COL10A1,NT5DC1 | c.529+2326dup (n.529+2326dup) c.1845dup (p.Lys616Ter) c.27+2326dup | |
| 6 | g.116120272del | CA2695206894 | COL10A1,NT5DC1 | c.529+2327del (n.529+2327del) c.1844del (p.Tyr615LeufsTer7) c.27+2327del | |
| 6 | g.116120272T>A | CA3968105 | COL10A1,NT5DC1 | c.529+2327T>A (n.529+2327T>A) c.1844A>T (p.Tyr615Phe) c.27+2327T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120272T>C | CA365386671 | COL10A1,NT5DC1 | c.529+2327T>C (n.529+2327T>C) c.1844A>G (p.Tyr615Cys) c.27+2327T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.116120272T>G | CA365386673 | COL10A1,NT5DC1 | c.529+2327T>G (n.529+2327T>G) c.1844A>C (p.Tyr615Ser) c.27+2327T>G | |
| 6 | g.116120272T= | CA1657093258 | COL10A1,NT5DC1 | c.529+2327T= (n.529+2327T=) c.1844A= (p.Tyr615=) c.27+2327T= | |
| 6 | g.116120272dup | CA2697553661 | COL10A1,NT5DC1 | c.529+2327dup (n.529+2327dup) c.1844dup (p.Tyr615Ter) c.27+2327dup | ClinVar |
| 6 | g.116120273A= | CA1657093259 | COL10A1,NT5DC1 | c.529+2328A= (n.529+2328A=) c.1843T= (p.Tyr615=) c.27+2328A= | |
| 6 | g.116120273A>C | CA365386675 | COL10A1,NT5DC1 | c.529+2328A>C (n.529+2328A>C) c.1843T>G (p.Tyr615Asp) c.27+2328A>C | ClinVar dbSNP |
| 6 | g.116120273A>G | CA365386676 | COL10A1,NT5DC1 | c.529+2328A>G (n.529+2328A>G) c.1843T>C (p.Tyr615His) c.27+2328A>G | |
| 6 | g.116120273A>T | CA365386678 | COL10A1,NT5DC1 | c.529+2328A>T (n.529+2328A>T) c.1843T>A (p.Tyr615Asn) c.27+2328A>T | |
| 6 | g.116120274C>A | CA451899396 | COL10A1,NT5DC1 | c.529+2329C>A (n.529+2329C>A) c.1842G>T (p.Leu614=) c.27+2329C>A | |
| 6 | g.116120274C>G | CA451899397 | COL10A1,NT5DC1 | c.529+2329C>G (n.529+2329C>G) c.1842G>C (p.Leu614=) c.27+2329C>G | |
| 6 | g.116120274C>T | CA451899398 | COL10A1,NT5DC1 | c.529+2329C>T (n.529+2329C>T) c.1842G>A (p.Leu614=) c.27+2329C>T | |
| 6 | g.116120275A= | CA1657093260 | COL10A1,NT5DC1 | c.529+2330A= (n.529+2330A=) c.1841T= (p.Leu614=) c.27+2330A= | |
| 6 | g.116120275A>C | CA365386679 | COL10A1,NT5DC1 | c.529+2330A>C (n.529+2330A>C) c.1841T>G (p.Leu614Arg) c.27+2330A>C | ClinVar |
| 6 | g.116120275A>G | CA127211 | COL10A1,NT5DC1 | c.529+2330A>G (n.529+2330A>G) c.1841T>C (p.Leu614Pro) c.27+2330A>G | ClinVar dbSNP |
| 6 | g.116120275A>T | CA365386681 | COL10A1,NT5DC1 | c.529+2330A>T (n.529+2330A>T) c.1841T>A (p.Leu614Gln) c.27+2330A>T | |
| 6 | g.116120276G>A | CA451899401 | COL10A1,NT5DC1 | c.529+2331G>A (n.529+2331G>A) c.1840C>T (p.Leu614=) c.27+2331G>A | |
| 6 | g.116120276G>C | CA365386683 | COL10A1,NT5DC1 | c.529+2331G>C (n.529+2331G>C) c.1840C>G (p.Leu614Val) c.27+2331G>C | |
| 6 | g.116120276G= | CA1657093261 | COL10A1,NT5DC1 | c.529+2331G= (n.529+2331G=) c.1840C= (p.Leu614=) c.27+2331G= | |
| 6 | g.116120276G>T | CA365386684 | COL10A1,NT5DC1 | c.529+2331G>T (n.529+2331G>T) c.1840C>A (p.Leu614Met) c.27+2331G>T | dbSNP |
| 6 | g.116120277G>A | CA3968106 | COL10A1,NT5DC1 | c.529+2332G>A (n.529+2332G>A) c.1839C>T (p.Gly613=) c.27+2332G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120277G>C | CA451899402 | COL10A1,NT5DC1 | c.529+2332G>C (n.529+2332G>C) c.1839C>G (p.Gly613=) c.27+2332G>C | |
| 6 | g.116120277G= | CA1657093262 | COL10A1,NT5DC1 | c.529+2332G= (n.529+2332G=) c.1839C= (p.Gly613=) c.27+2332G= | |
| 6 | g.116120277G>T | CA451899403 | COL10A1,NT5DC1 | c.529+2332G>T (n.529+2332G>T) c.1839C>A (p.Gly613=) c.27+2332G>T | |
| 6 | g.116120277_116120281delinsGCCTA | CA1657093263 | COL10A1,NT5DC1 | c.529+2332_529+2336delinsGCCTA (n.529+2332_529+2336delinsGCCTA) c.1835_1839delinsTAGGC (p.Val612=) c.27+2332_27+2336delinsGCCTA | |
| 6 | g.116120278C>A | CA365386686 | COL10A1,NT5DC1 | c.529+2333C>A (n.529+2333C>A) c.1838G>T (p.Gly613Val) c.27+2333C>A | dbSNP gnomAD v2 |
| 6 | g.116120278C= | CA1657093264 | COL10A1,NT5DC1 | c.529+2333C= (n.529+2333C=) c.1838G= (p.Gly613=) c.27+2333C= | |
| 6 | g.116120278C>G | CA365386687 | COL10A1,NT5DC1 | c.529+2333C>G (n.529+2333C>G) c.1838G>C (p.Gly613Ala) c.27+2333C>G | |
| 6 | g.116120278C>T | CA365386689 | COL10A1,NT5DC1 | c.529+2333C>T (n.529+2333C>T) c.1838G>A (p.Gly613Asp) c.27+2333C>T | |
| 6 | g.116120280_116120283del | CA916082894 | COL10A1,NT5DC1 | c.529+2335_529+2338del (n.529+2335_529+2338del) c.1835_1838del (p.Val612AlafsTer9) c.27+2335_27+2338del | ClinVar dbSNP |
| 6 | g.116120279C>A | CA365386694 | COL10A1,NT5DC1 | c.529+2334C>A (n.529+2334C>A) c.1837G>T (p.Gly613Cys) c.27+2334C>A | |
| 6 | g.116120279C>G | CA365386693 | COL10A1,NT5DC1 | c.529+2334C>G (n.529+2334C>G) c.1837G>C (p.Gly613Arg) c.27+2334C>G | |
| 6 | g.116120279C>T | CA365386691 | COL10A1,NT5DC1 | c.529+2334C>T (n.529+2334C>T) c.1837G>A (p.Gly613Ser) c.27+2334C>T | |
| 6 | g.116120280T>A | CA451899406 | COL10A1,NT5DC1 | c.529+2335T>A (n.529+2335T>A) c.1836A>T (p.Val612=) c.27+2335T>A | |
| 6 | g.116120280T>C | CA451899408 | COL10A1,NT5DC1 | c.529+2335T>C (n.529+2335T>C) c.1836A>G (p.Val612=) c.27+2335T>C | |
| 6 | g.116120280T>G | CA451899407 | COL10A1,NT5DC1 | c.529+2335T>G (n.529+2335T>G) c.1836A>C (p.Val612=) c.27+2335T>G | |
| 6 | g.116120281A= | CA1657093265 | COL10A1,NT5DC1 | c.529+2336A= (n.529+2336A=) c.1835T= (p.Val612=) c.27+2336A= | |
| 6 | g.116120281A>C | CA365386696 | COL10A1,NT5DC1 | c.529+2336A>C (n.529+2336A>C) c.1835T>G (p.Val612Gly) c.27+2336A>C | |
| 6 | g.116120281A>G | CA3968107 | COL10A1,NT5DC1 | c.529+2336A>G (n.529+2336A>G) c.1835T>C (p.Val612Ala) c.27+2336A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120281A>T | CA365386698 | COL10A1,NT5DC1 | c.529+2336A>T (n.529+2336A>T) c.1835T>A (p.Val612Glu) c.27+2336A>T | |
| 6 | g.116120282C>A | CA365386700 | COL10A1,NT5DC1 | c.529+2337C>A (n.529+2337C>A) c.1834G>T (p.Val612Leu) c.27+2337C>A | gnomAD v4 |
| 6 | g.116120282C>G | CA365386702 | COL10A1,NT5DC1 | c.529+2337C>G (n.529+2337C>G) c.1834G>C (p.Val612Leu) c.27+2337C>G | |
| 6 | g.116120282C>T | CA365386703 | COL10A1,NT5DC1 | c.529+2337C>T (n.529+2337C>T) c.1834G>A (p.Val612Ile) c.27+2337C>T | gnomAD v4 |
| 6 | g.116120283C>A | CA365386708 | COL10A1,NT5DC1 | c.529+2338C>A (n.529+2338C>A) c.1833G>T (p.Trp611Cys) c.27+2338C>A | |
| 6 | g.116120283C>G | CA365386707 | COL10A1,NT5DC1 | c.529+2338C>G (n.529+2338C>G) c.1833G>C (p.Trp611Cys) c.27+2338C>G | gnomAD v4 |
| 6 | g.116120283C>T | CA365386705 | COL10A1,NT5DC1 | c.529+2338C>T (n.529+2338C>T) c.1833G>A (p.Trp611Ter) c.27+2338C>T | ClinVar |
| 6 | g.116120284C>A | CA365386710 | COL10A1,NT5DC1 | c.529+2339C>A (n.529+2339C>A) c.1832G>T (p.Trp611Leu) c.27+2339C>A | |
| 6 | g.116120284C= | CA1657093266 | COL10A1,NT5DC1 | c.529+2339C= (n.529+2339C=) c.1832G= (p.Trp611=) c.27+2339C= | |
| 6 | g.116120284C>G | CA365386711 | COL10A1,NT5DC1 | c.529+2339C>G (n.529+2339C>G) c.1832G>C (p.Trp611Ser) c.27+2339C>G | dbSNP |
| 6 | g.116120284C>T | CA127226 | COL10A1,NT5DC1 | c.529+2339C>T (n.529+2339C>T) c.1832G>A (p.Trp611Ter) c.27+2339C>T | ClinVar dbSNP |
| 6 | g.116120285A>C | CA365386714 | COL10A1,NT5DC1 | c.529+2340A>C (n.529+2340A>C) c.1831T>G (p.Trp611Gly) c.27+2340A>C | gnomAD v4 |
| 6 | g.116120285A>G | CA365386716 | COL10A1,NT5DC1 | c.529+2340A>G (n.529+2340A>G) c.1831T>C (p.Trp611Arg) c.27+2340A>G | |
| 6 | g.116120285A>T | CA365386717 | COL10A1,NT5DC1 | c.529+2340A>T (n.529+2340A>T) c.1831T>A (p.Trp611Arg) c.27+2340A>T | |
| 6 | g.116120286A= | CA1657093267 | COL10A1,NT5DC1 | c.529+2341A= (n.529+2341A=) c.1830T= (p.Val610=) c.27+2341A= | |
| 6 | g.116120286A>C | CA451899413 | COL10A1,NT5DC1 | c.529+2341A>C (n.529+2341A>C) c.1830T>G (p.Val610=) c.27+2341A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120286A>G | CA451899414 | COL10A1,NT5DC1 | c.529+2341A>G (n.529+2341A>G) c.1830T>C (p.Val610=) c.27+2341A>G | |
| 6 | g.116120286A>T | CA451899415 | COL10A1,NT5DC1 | c.529+2341A>T (n.529+2341A>T) c.1830T>A (p.Val610=) c.27+2341A>T | |
| 6 | g.116120287A= | CA1657093269 | COL10A1,NT5DC1 | c.529+2342A= (n.529+2342A=) c.1829T= (p.Val610=) c.27+2342A= | |
| 6 | g.116120287A>C | CA365386718 | COL10A1,NT5DC1 | c.529+2342A>C (n.529+2342A>C) c.1829T>G (p.Val610Gly) c.27+2342A>C | dbSNP |
| 6 | g.116120287A>G | CA365386720 | COL10A1,NT5DC1 | c.529+2342A>G (n.529+2342A>G) c.1829T>C (p.Val610Ala) c.27+2342A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120287A>T | CA365386719 | COL10A1,NT5DC1 | c.529+2342A>T (n.529+2342A>T) c.1829T>A (p.Val610Asp) c.27+2342A>T | |
| 6 | g.116120287_116120294delinsACATGAGT | CA1657093268 | COL10A1,NT5DC1 | c.529+2342_529+2349delinsACATGAGT (n.529+2342_529+2349delinsACATGAGT) c.1822_1829delinsACTCATGT (p.Thr608=) c.27+2342_27+2349delinsACATGAGT | |
| 6 | g.116120288C>A | CA365386722 | COL10A1,NT5DC1 | c.529+2343C>A (n.529+2343C>A) c.1828G>T (p.Val610Phe) c.27+2343C>A | |
| 6 | g.116120288C>G | CA365386724 | COL10A1,NT5DC1 | c.529+2343C>G (n.529+2343C>G) c.1828G>C (p.Val610Leu) c.27+2343C>G | |
| 6 | g.116120288C>T | CA365386725 | COL10A1,NT5DC1 | c.529+2343C>T (n.529+2343C>T) c.1828G>A (p.Val610Ile) c.27+2343C>T | |
| 6 | g.116120289_116120295del | CA3968108 | COL10A1,NT5DC1 | c.529+2344_529+2350del (n.529+2344_529+2350del) c.1822_1828del (p.Thr608PhefsTer3) c.27+2344_27+2350del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120289A= | CA1657093270 | COL10A1,NT5DC1 | c.529+2344A= (n.529+2344A=) c.1827T= (p.His609=) c.27+2344A= | |
| 6 | g.116120289A>C | CA365386727 | COL10A1,NT5DC1 | c.529+2344A>C (n.529+2344A>C) c.1827T>G (p.His609Gln) c.27+2344A>C | |
| 6 | g.116120289A>G | CA451899421 | COL10A1,NT5DC1 | c.529+2344A>G (n.529+2344A>G) c.1827T>C (p.His609=) c.27+2344A>G | gnomAD v4 |
| 6 | g.116120289A>T | CA365386728 | COL10A1,NT5DC1 | c.529+2344A>T (n.529+2344A>T) c.1827T>A (p.His609Gln) c.27+2344A>T | dbSNP |
| 6 | g.116120290T>A | CA365386730 | COL10A1,NT5DC1 | c.529+2345T>A (n.529+2345T>A) c.1826A>T (p.His609Leu) c.27+2345T>A | |
| 6 | g.116120290T>C | CA365386731 | COL10A1,NT5DC1 | c.529+2345T>C (n.529+2345T>C) c.1826A>G (p.His609Arg) c.27+2345T>C | |
| 6 | g.116120290T>G | CA365386733 | COL10A1,NT5DC1 | c.529+2345T>G (n.529+2345T>G) c.1826A>C (p.His609Pro) c.27+2345T>G | gnomAD v4 |
| 6 | g.116120291G>A | CA365386734 | COL10A1,NT5DC1 | c.529+2346G>A (n.529+2346G>A) c.1825C>T (p.His609Tyr) c.27+2346G>A | |
| 6 | g.116120291G>C | CA365386735 | COL10A1,NT5DC1 | c.529+2346G>C (n.529+2346G>C) c.1825C>G (p.His609Asp) c.27+2346G>C | |
| 6 | g.116120291G>T | CA365386737 | COL10A1,NT5DC1 | c.529+2346G>T (n.529+2346G>T) c.1825C>A (p.His609Asn) c.27+2346G>T | |
| 6 | g.116120292A>C | CA451899425 | COL10A1,NT5DC1 | c.529+2347A>C (n.529+2347A>C) c.1824T>G (p.Thr608=) c.27+2347A>C | |
| 6 | g.116120292A>G | CA451899428 | COL10A1,NT5DC1 | c.529+2347A>G (n.529+2347A>G) c.1824T>C (p.Thr608=) c.27+2347A>G | |
| 6 | g.116120292A>T | CA451899426 | COL10A1,NT5DC1 | c.529+2347A>T (n.529+2347A>T) c.1824T>A (p.Thr608=) c.27+2347A>T | |
| 6 | g.116120293del | CA2499218043 | COL10A1,NT5DC1 | c.529+2348del (n.529+2348del) c.1823del (p.Thr608IlefsTer5) c.27+2348del | ClinVar dbSNP |
| 6 | g.116120293G>A | CA365386741 | COL10A1,NT5DC1 | c.529+2348G>A (n.529+2348G>A) c.1823C>T (p.Thr608Ile) c.27+2348G>A | |
| 6 | g.116120293G>C | CA365386740 | COL10A1,NT5DC1 | c.529+2348G>C (n.529+2348G>C) c.1823C>G (p.Thr608Ser) c.27+2348G>C | |
| 6 | g.116120293G>T | CA365386739 | COL10A1,NT5DC1 | c.529+2348G>T (n.529+2348G>T) c.1823C>A (p.Thr608Asn) c.27+2348G>T | |
| 6 | g.116120294T>A | CA365386745 | COL10A1,NT5DC1 | c.529+2349T>A (n.529+2349T>A) c.1822A>T (p.Thr608Ser) c.27+2349T>A | |
| 6 | g.116120294T>C | CA365386743 | COL10A1,NT5DC1 | c.529+2349T>C (n.529+2349T>C) c.1822A>G (p.Thr608Ala) c.27+2349T>C | |
| 6 | g.116120294T>G | CA365386746 | COL10A1,NT5DC1 | c.529+2349T>G (n.529+2349T>G) c.1822A>C (p.Thr608Pro) c.27+2349T>G | gnomAD v4 |
| 6 | g.116120295C>A | CA3968109 | COL10A1,NT5DC1 | c.529+2350C>A (n.529+2350C>A) c.1821G>T (p.Gly607=) c.27+2350C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120295C= | CA1657093271 | COL10A1,NT5DC1 | c.529+2350C= (n.529+2350C=) c.1821G= (p.Gly607=) c.27+2350C= | |
| 6 | g.116120295C>G | CA451899430 | COL10A1,NT5DC1 | c.529+2350C>G (n.529+2350C>G) c.1821G>C (p.Gly607=) c.27+2350C>G | gnomAD v4 |
| 6 | g.116120295C>T | CA451899429 | COL10A1,NT5DC1 | c.529+2350C>T (n.529+2350C>T) c.1821G>A (p.Gly607=) c.27+2350C>T | |
| 6 | g.116120296C>A | CA365386750 | COL10A1,NT5DC1 | c.529+2351C>A (n.529+2351C>A) c.1820G>T (p.Gly607Val) c.27+2351C>A | |
| 6 | g.116120296C>G | CA365386748 | COL10A1,NT5DC1 | c.529+2351C>G (n.529+2351C>G) c.1820G>C (p.Gly607Ala) c.27+2351C>G | |
| 6 | g.116120296C>T | CA365386749 | COL10A1,NT5DC1 | c.529+2351C>T (n.529+2351C>T) c.1820G>A (p.Gly607Glu) c.27+2351C>T | gnomAD v4 |
| 6 | g.116120297C>A | CA365386752 | COL10A1,NT5DC1 | c.529+2352C>A (n.529+2352C>A) c.1819G>T (p.Gly607Trp) c.27+2352C>A | |
| 6 | g.116120297C>G | CA365386754 | COL10A1,NT5DC1 | c.529+2352C>G (n.529+2352C>G) c.1819G>C (p.Gly607Arg) c.27+2352C>G | |
| 6 | g.116120297C>T | CA365386755 | COL10A1,NT5DC1 | c.529+2352C>T (n.529+2352C>T) c.1819G>A (p.Gly607Arg) c.27+2352C>T | |
| 6 | g.116120298T>A | CA365386756 | COL10A1,NT5DC1 | c.529+2353T>A (n.529+2353T>A) c.1818A>T (p.Lys606Asn) c.27+2353T>A | |
| 6 | g.116120298T>C | CA451899432 | COL10A1,NT5DC1 | c.529+2353T>C (n.529+2353T>C) c.1818A>G (p.Lys606=) c.27+2353T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120298T>G | CA365386758 | COL10A1,NT5DC1 | c.529+2353T>G (n.529+2353T>G) c.1818A>C (p.Lys606Asn) c.27+2353T>G | |
| 6 | g.116120298T= | CA1657093272 | COL10A1,NT5DC1 | c.529+2353T= (n.529+2353T=) c.1818A= (p.Lys606=) c.27+2353T= | |
| 6 | g.116120299T>A | CA365386759 | COL10A1,NT5DC1 | c.529+2354T>A (n.529+2354T>A) c.1817A>T (p.Lys606Ile) c.27+2354T>A | |
| 6 | g.116120299T>C | CA365386761 | COL10A1,NT5DC1 | c.529+2354T>C (n.529+2354T>C) c.1817A>G (p.Lys606Arg) c.27+2354T>C | |
| 6 | g.116120299T>G | CA365386763 | COL10A1,NT5DC1 | c.529+2354T>G (n.529+2354T>G) c.1817A>C (p.Lys606Thr) c.27+2354T>G | |
| 6 | g.116120300T>A | CA365386764 | COL10A1,NT5DC1 | c.529+2355T>A (n.529+2355T>A) c.1816A>T (p.Lys606Ter) c.27+2355T>A | |
| 6 | g.116120300T>C | CA365386765 | COL10A1,NT5DC1 | c.529+2355T>C (n.529+2355T>C) c.1816A>G (p.Lys606Glu) c.27+2355T>C | gnomAD v4 |
| 6 | g.116120300T>G | CA365386767 | COL10A1,NT5DC1 | c.529+2355T>G (n.529+2355T>G) c.1816A>C (p.Lys606Gln) c.27+2355T>G | |
| 6 | g.116120301C>A | CA451899433 | COL10A1,NT5DC1 | c.529+2356C>A (n.529+2356C>A) c.1815G>T (p.Val605=) c.27+2356C>A | |
| 6 | g.116120301C>G | CA451899434 | COL10A1,NT5DC1 | c.529+2356C>G (n.529+2356C>G) c.1815G>C (p.Val605=) c.27+2356C>G | gnomAD v4 |
| 6 | g.116120301C>T | CA451899435 | COL10A1,NT5DC1 | c.529+2356C>T (n.529+2356C>T) c.1815G>A (p.Val605=) c.27+2356C>T | |
| 6 | g.116120302A= | CA1657093273 | COL10A1,NT5DC1 | c.529+2357A= (n.529+2357A=) c.1814T= (p.Val605=) c.27+2357A= | |
| 6 | g.116120302A>C | CA365386772 | COL10A1,NT5DC1 | c.529+2357A>C (n.529+2357A>C) c.1814T>G (p.Val605Gly) c.27+2357A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120302A>G | CA365386770 | COL10A1,NT5DC1 | c.529+2357A>G (n.529+2357A>G) c.1814T>C (p.Val605Ala) c.27+2357A>G | |
| 6 | g.116120302A>T | CA365386769 | COL10A1,NT5DC1 | c.529+2357A>T (n.529+2357A>T) c.1814T>A (p.Val605Glu) c.27+2357A>T | |
| 6 | g.116120303C>A | CA365386774 | COL10A1,NT5DC1 | c.529+2358C>A (n.529+2358C>A) c.1813G>T (p.Val605Leu) c.27+2358C>A | |
| 6 | g.116120303C= | CA1657093274 | COL10A1,NT5DC1 | c.529+2358C= (n.529+2358C=) c.1813G= (p.Val605=) c.27+2358C= | |
| 6 | g.116120303C>G | CA365386776 | COL10A1,NT5DC1 | c.529+2358C>G (n.529+2358C>G) c.1813G>C (p.Val605Leu) c.27+2358C>G | |
| 6 | g.116120303C>T | CA365386778 | COL10A1,NT5DC1 | c.529+2358C>T (n.529+2358C>T) c.1813G>A (p.Val605Met) c.27+2358C>T | dbSNP gnomAD v4 |
| 6 | g.116120304A= | CA1657093275 | COL10A1,NT5DC1 | c.529+2359A= (n.529+2359A=) c.1812T= (p.His604=) c.27+2359A= | |
| 6 | g.116120304A>C | CA365386779 | COL10A1,NT5DC1 | c.529+2359A>C (n.529+2359A>C) c.1812T>G (p.His604Gln) c.27+2359A>C | |
| 6 | g.116120304A>G | CA3968110 | COL10A1,NT5DC1 | c.529+2359A>G (n.529+2359A>G) c.1812T>C (p.His604=) c.27+2359A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120304A>T | CA365386781 | COL10A1,NT5DC1 | c.529+2359A>T (n.529+2359A>T) c.1812T>A (p.His604Gln) c.27+2359A>T | |
| 6 | g.116120305T>A | CA365386782 | COL10A1,NT5DC1 | c.529+2360T>A (n.529+2360T>A) c.1811A>T (p.His604Leu) c.27+2360T>A | |
| 6 | g.116120305T>C | CA365386784 | COL10A1,NT5DC1 | c.529+2360T>C (n.529+2360T>C) c.1811A>G (p.His604Arg) c.27+2360T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120305T>G | CA365386785 | COL10A1,NT5DC1 | c.529+2360T>G (n.529+2360T>G) c.1811A>C (p.His604Pro) c.27+2360T>G | |
| 6 | g.116120305T= | CA1657093276 | COL10A1,NT5DC1 | c.529+2360T= (n.529+2360T=) c.1811A= (p.His604=) c.27+2360T= | |
| 6 | g.116120306G>A | CA365386787 | COL10A1,NT5DC1 | c.529+2361G>A (n.529+2361G>A) c.1810C>T (p.His604Tyr) c.27+2361G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120306G>C | CA365386788 | COL10A1,NT5DC1 | c.529+2361G>C (n.529+2361G>C) c.1810C>G (p.His604Asp) c.27+2361G>C | |
| 6 | g.116120306G= | CA1657093277 | COL10A1,NT5DC1 | c.529+2361G= (n.529+2361G=) c.1810C= (p.His604=) c.27+2361G= | |
| 6 | g.116120306G>T | CA365386789 | COL10A1,NT5DC1 | c.529+2361G>T (n.529+2361G>T) c.1810C>A (p.His604Asn) c.27+2361G>T | gnomAD v4 |
| 6 | g.116120307C>A | CA451899438 | COL10A1,NT5DC1 | c.529+2362C>A (n.529+2362C>A) c.1809G>T (p.Val603=) c.27+2362C>A | |
| 6 | g.116120307C= | CA1657093278 | COL10A1,NT5DC1 | c.529+2362C= (n.529+2362C=) c.1809G= (p.Val603=) c.27+2362C= | |
| 6 | g.116120307C>G | CA3968111 | COL10A1,NT5DC1 | c.529+2362C>G (n.529+2362C>G) c.1809G>C (p.Val603=) c.27+2362C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120307C>T | CA451899440 | COL10A1,NT5DC1 | c.529+2362C>T (n.529+2362C>T) c.1809G>A (p.Val603=) c.27+2362C>T | |
| 6 | g.116120308A>C | CA365386794 | COL10A1,NT5DC1 | c.529+2363A>C (n.529+2363A>C) c.1808T>G (p.Val603Gly) c.27+2363A>C | |
| 6 | g.116120308A>G | CA365386796 | COL10A1,NT5DC1 | c.529+2363A>G (n.529+2363A>G) c.1808T>C (p.Val603Ala) c.27+2363A>G | |
| 6 | g.116120308A>T | CA365386792 | COL10A1,NT5DC1 | c.529+2363A>T (n.529+2363A>T) c.1808T>A (p.Val603Glu) c.27+2363A>T | |
| 6 | g.116120309C>A | CA365386798 | COL10A1,NT5DC1 | c.529+2364C>A (n.529+2364C>A) c.1807G>T (p.Val603Leu) c.27+2364C>A | |
| 6 | g.116120309C= | CA1657093279 | COL10A1,NT5DC1 | c.529+2364C= (n.529+2364C=) c.1807G= (p.Val603=) c.27+2364C= | |
| 6 | g.116120309C>G | CA3968113 | COL10A1,NT5DC1 | c.529+2364C>G (n.529+2364C>G) c.1807G>C (p.Val603Leu) c.27+2364C>G | ClinVar dbSNP ExAC |
| 6 | g.116120309C>T | CA3968112 | COL10A1,NT5DC1 | c.529+2364C>T (n.529+2364C>T) c.1807G>A (p.Val603Met) c.27+2364C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116120309_116120316dup | CA2695206895 | COL10A1,NT5DC1 | c.529+2364_529+2371dup (n.529+2364_529+2371dup) c.1800_1807dup (p.Val603AspfsTer6) c.27+2364_27+2371dup | |
| 6 | g.116120310G>A | CA3968114 | COL10A1,NT5DC1 | c.529+2365G>A (n.529+2365G>A) c.1806C>T (p.His602=) c.27+2365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120310G>C | CA365386801 | COL10A1,NT5DC1 | c.529+2365G>C (n.529+2365G>C) c.1806C>G (p.His602Gln) c.27+2365G>C | |
| 6 | g.116120310G= | CA1657093280 | COL10A1,NT5DC1 | c.529+2365G= (n.529+2365G=) c.1806C= (p.His602=) c.27+2365G= | |
| 6 | g.116120310G>T | CA365386803 | COL10A1,NT5DC1 | c.529+2365G>T (n.529+2365G>T) c.1806C>A (p.His602Gln) c.27+2365G>T | |
| 6 | g.116120311T>A | CA365386804 | COL10A1,NT5DC1 | c.529+2366T>A (n.529+2366T>A) c.1805A>T (p.His602Leu) c.27+2366T>A | |
| 6 | g.116120311T>C | CA365386805 | COL10A1,NT5DC1 | c.529+2366T>C (n.529+2366T>C) c.1805A>G (p.His602Arg) c.27+2366T>C | |
| 6 | g.116120311T>G | CA365386806 | COL10A1,NT5DC1 | c.529+2366T>G (n.529+2366T>G) c.1805A>C (p.His602Pro) c.27+2366T>G | |
| 6 | g.116120312G>A | CA365386807 | COL10A1,NT5DC1 | c.529+2367G>A (n.529+2367G>A) c.1804C>T (p.His602Tyr) c.27+2367G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120312G>C | CA365386808 | COL10A1,NT5DC1 | c.529+2367G>C (n.529+2367G>C) c.1804C>G (p.His602Asp) c.27+2367G>C | |
| 6 | g.116120312G= | CA1657093281 | COL10A1,NT5DC1 | c.529+2367G= (n.529+2367G=) c.1804C= (p.His602=) c.27+2367G= | |
| 6 | g.116120312G>T | CA365386809 | COL10A1,NT5DC1 | c.529+2367G>T (n.529+2367G>T) c.1804C>A (p.His602Asn) c.27+2367G>T | |
| 6 | g.116120313G>A | CA451899444 | COL10A1,NT5DC1 | c.529+2368G>A (n.529+2368G>A) c.1803C>T (p.Tyr601=) c.27+2368G>A | |
| 6 | g.116120313G>C | CA365386812 | COL10A1,NT5DC1 | c.529+2368G>C (n.529+2368G>C) c.1803C>G (p.Tyr601Ter) c.27+2368G>C | |
| 6 | g.116120313G>T | CA365386811 | COL10A1,NT5DC1 | c.529+2368G>T (n.529+2368G>T) c.1803C>A (p.Tyr601Ter) c.27+2368G>T | |
| 6 | g.116120314T>A | CA365386814 | COL10A1,NT5DC1 | c.529+2369T>A (n.529+2369T>A) c.1802A>T (p.Tyr601Phe) c.27+2369T>A | |
| 6 | g.116120314T>C | CA365386815 | COL10A1,NT5DC1 | c.529+2369T>C (n.529+2369T>C) c.1802A>G (p.Tyr601Cys) c.27+2369T>C | |
| 6 | g.116120314T>G | CA365386817 | COL10A1,NT5DC1 | c.529+2369T>G (n.529+2369T>G) c.1802A>C (p.Tyr601Ser) c.27+2369T>G | |
| 6 | g.116120315A>C | CA365386819 | COL10A1,NT5DC1 | c.529+2370A>C (n.529+2370A>C) c.1801T>G (p.Tyr601Asp) c.27+2370A>C | |
| 6 | g.116120315A>G | CA365386820 | COL10A1,NT5DC1 | c.529+2370A>G (n.529+2370A>G) c.1801T>C (p.Tyr601His) c.27+2370A>G | |
| 6 | g.116120315A>T | CA365386822 | COL10A1,NT5DC1 | c.529+2370A>T (n.529+2370A>T) c.1801T>A (p.Tyr601Asn) c.27+2370A>T | ClinVar |
| 6 | g.116120316T>A | CA451899447 | COL10A1,NT5DC1 | c.529+2371T>A (n.529+2371T>A) c.1800A>T (p.Ser600=) c.27+2371T>A | |
| 6 | g.116120316T>C | CA451899448 | COL10A1,NT5DC1 | c.529+2371T>C (n.529+2371T>C) c.1800A>G (p.Ser600=) c.27+2371T>C | |
| 6 | g.116120316T>G | CA451899450 | COL10A1,NT5DC1 | c.529+2371T>G (n.529+2371T>G) c.1800A>C (p.Ser600=) c.27+2371T>G | |
| 6 | g.116120317G>A | CA365386823 | COL10A1,NT5DC1 | c.529+2372G>A (n.529+2372G>A) c.1799C>T (p.Ser600Leu) c.27+2372G>A | |
| 6 | g.116120317G>C | CA365386824 | COL10A1,NT5DC1 | c.529+2372G>C (n.529+2372G>C) c.1799C>G (p.Ser600Ter) c.27+2372G>C | |
| 6 | g.116120317G>T | CA365386826 | COL10A1,NT5DC1 | c.529+2372G>T (n.529+2372G>T) c.1799C>A (p.Ser600Ter) c.27+2372G>T | |
| 6 | g.116120318A= | CA1657093282 | COL10A1,NT5DC1 | c.529+2373A= (n.529+2373A=) c.1798T= (p.Ser600=) c.27+2373A= | |
| 6 | g.116120318A>C | CA365386827 | COL10A1,NT5DC1 | c.529+2373A>C (n.529+2373A>C) c.1798T>G (p.Ser600Ala) c.27+2373A>C | |
| 6 | g.116120318A>G | CA127225 | COL10A1,NT5DC1 | c.529+2373A>G (n.529+2373A>G) c.1798T>C (p.Ser600Pro) c.27+2373A>G | ClinVar dbSNP |
| 6 | g.116120318A>T | CA365386828 | COL10A1,NT5DC1 | c.529+2373A>T (n.529+2373A>T) c.1798T>A (p.Ser600Thr) c.27+2373A>T | |
| 6 | g.116120319A>C | CA365386829 | COL10A1,NT5DC1 | c.529+2374A>C (n.529+2374A>C) c.1797T>G (p.Phe599Leu) c.27+2374A>C | |
| 6 | g.116120319A>G | CA451899454 | COL10A1,NT5DC1 | c.529+2374A>G (n.529+2374A>G) c.1797T>C (p.Phe599=) c.27+2374A>G | |
| 6 | g.116120319A>T | CA365386830 | COL10A1,NT5DC1 | c.529+2374A>T (n.529+2374A>T) c.1797T>A (p.Phe599Leu) c.27+2374A>T | |
| 6 | g.116120320A= | CA1657093283 | COL10A1,NT5DC1 | c.529+2375A= (n.529+2375A=) c.1796T= (p.Phe599=) c.27+2375A= | |
| 6 | g.116120320A>C | CA365386831 | COL10A1,NT5DC1 | c.529+2375A>C (n.529+2375A>C) c.1796T>G (p.Phe599Cys) c.27+2375A>C | |
| 6 | g.116120320A>G | CA365386832 | COL10A1,NT5DC1 | c.529+2375A>G (n.529+2375A>G) c.1796T>C (p.Phe599Ser) c.27+2375A>G | ClinVar dbSNP |
| 6 | g.116120320A>T | CA365386833 | COL10A1,NT5DC1 | c.529+2375A>T (n.529+2375A>T) c.1796T>A (p.Phe599Tyr) c.27+2375A>T | |
| 6 | g.116120321A>C | CA365386834 | COL10A1,NT5DC1 | c.529+2376A>C (n.529+2376A>C) c.1795T>G (p.Phe599Val) c.27+2376A>C | |
| 6 | g.116120321A>G | CA365386835 | COL10A1,NT5DC1 | c.529+2376A>G (n.529+2376A>G) c.1795T>C (p.Phe599Leu) c.27+2376A>G | |
| 6 | g.116120321A>T | CA365386837 | COL10A1,NT5DC1 | c.529+2376A>T (n.529+2376A>T) c.1795T>A (p.Phe599Ile) c.27+2376A>T | |
| 6 | g.116120321_116120322insTAGT | CA2695206896 | COL10A1,NT5DC1 | c.529+2376_529+2377insTAGT (n.529+2376_529+2377insTAGT) c.1794_1795insACTA (p.Phe599ThrfsTer19) c.27+2376_27+2377insTAGT | |
| 6 | g.116120322A>C | CA365386838 | COL10A1,NT5DC1 | c.529+2377A>C (n.529+2377A>C) c.1794T>G (p.Tyr598Ter) c.27+2377A>C | |
| 6 | g.116120322A>G | CA451899456 | COL10A1,NT5DC1 | c.529+2377A>G (n.529+2377A>G) c.1794T>C (p.Tyr598=) c.27+2377A>G | |
| 6 | g.116120322A>T | CA365386840 | COL10A1,NT5DC1 | c.529+2377A>T (n.529+2377A>T) c.1794T>A (p.Tyr598Ter) c.27+2377A>T | |
| 6 | g.116120323T>A | CA365386842 | COL10A1,NT5DC1 | c.529+2378T>A (n.529+2378T>A) c.1793A>T (p.Tyr598Phe) c.27+2378T>A | |
| 6 | g.116120323T>C | CA365386843 | COL10A1,NT5DC1 | c.529+2378T>C (n.529+2378T>C) c.1793A>G (p.Tyr598Cys) c.27+2378T>C | |
| 6 | g.116120323T>G | CA365386844 | COL10A1,NT5DC1 | c.529+2378T>G (n.529+2378T>G) c.1793A>C (p.Tyr598Ser) c.27+2378T>G |