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