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.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.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 | |
| 6 | g.116120324A= | CA1657093284 | COL10A1,NT5DC1 | c.529+2379A= (n.529+2379A=) c.1792T= (p.Tyr598=) c.27+2379A= | |
| 6 | g.116120324A>C | CA127210 | COL10A1,NT5DC1 | c.529+2379A>C (n.529+2379A>C) c.1792T>G (p.Tyr598Asp) c.27+2379A>C | ClinVar dbSNP |
| 6 | g.116120324A>G | CA365386845 | COL10A1,NT5DC1 | c.529+2379A>G (n.529+2379A>G) c.1792T>C (p.Tyr598His) c.27+2379A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120324A>T | CA365386846 | COL10A1,NT5DC1 | c.529+2379A>T (n.529+2379A>T) c.1792T>A (p.Tyr598Asn) c.27+2379A>T | |
| 6 | g.116120325G>A | CA451899457 | COL10A1,NT5DC1 | c.529+2380G>A (n.529+2380G>A) c.1791C>T (p.Tyr597=) c.27+2380G>A | |
| 6 | g.116120325G>C | CA365386848 | COL10A1,NT5DC1 | c.529+2380G>C (n.529+2380G>C) c.1791C>G (p.Tyr597Ter) c.27+2380G>C | dbSNP |
| 6 | g.116120325G= | CA1657093285 | COL10A1,NT5DC1 | c.529+2380G= (n.529+2380G=) c.1791C= (p.Tyr597=) c.27+2380G= | |
| 6 | g.116120325G>T | CA365386847 | COL10A1,NT5DC1 | c.529+2380G>T (n.529+2380G>T) c.1791C>A (p.Tyr597Ter) c.27+2380G>T | |
| 6 | g.116120326T>A | CA365386849 | COL10A1,NT5DC1 | c.529+2381T>A (n.529+2381T>A) c.1790A>T (p.Tyr597Phe) c.27+2381T>A | ClinVar dbSNP |
| 6 | g.116120326T>C | CA127224 | COL10A1,NT5DC1 | c.529+2381T>C (n.529+2381T>C) c.1790A>G (p.Tyr597Cys) c.27+2381T>C | ClinVar dbSNP |
| 6 | g.116120326T>G | CA365386850 | COL10A1,NT5DC1 | c.529+2381T>G (n.529+2381T>G) c.1790A>C (p.Tyr597Ser) c.27+2381T>G | |
| 6 | g.116120326T= | CA1657093286 | COL10A1,NT5DC1 | c.529+2381T= (n.529+2381T=) c.1790A= (p.Tyr597=) c.27+2381T= | |
| 6 | g.116120327A>C | CA365386852 | COL10A1,NT5DC1 | c.529+2382A>C (n.529+2382A>C) c.1789T>G (p.Tyr597Asp) c.27+2382A>C | |
| 6 | g.116120327A>G | CA365386853 | COL10A1,NT5DC1 | c.529+2382A>G (n.529+2382A>G) c.1789T>C (p.Tyr597His) c.27+2382A>G | ClinVar |
| 6 | g.116120327A>T | CA365386855 | COL10A1,NT5DC1 | c.529+2382A>T (n.529+2382A>T) c.1789T>A (p.Tyr597Asn) c.27+2382A>T | |
| 6 | g.116120328T>A | CA451899461 | COL10A1,NT5DC1 | c.529+2383T>A (n.529+2383T>A) c.1788A>T (p.Ile596=) c.27+2383T>A | |
| 6 | g.116120328T>C | CA365386857 | COL10A1,NT5DC1 | c.529+2383T>C (n.529+2383T>C) c.1788A>G (p.Ile596Met) c.27+2383T>C | gnomAD v4 |
| 6 | g.116120328T>G | CA451899460 | COL10A1,NT5DC1 | c.529+2383T>G (n.529+2383T>G) c.1788A>C (p.Ile596=) c.27+2383T>G | |
| 6 | g.116120329A>C | CA365386859 | COL10A1,NT5DC1 | c.529+2384A>C (n.529+2384A>C) c.1787T>G (p.Ile596Arg) c.27+2384A>C | |
| 6 | g.116120329A>G | CA365386860 | COL10A1,NT5DC1 | c.529+2384A>G (n.529+2384A>G) c.1787T>C (p.Ile596Thr) c.27+2384A>G | gnomAD v4 |
| 6 | g.116120329A>T | CA365386861 | COL10A1,NT5DC1 | c.529+2384A>T (n.529+2384A>T) c.1787T>A (p.Ile596Lys) c.27+2384A>T | |
| 6 | g.116120330T>A | CA365386863 | COL10A1,NT5DC1 | c.529+2385T>A (n.529+2385T>A) c.1786A>T (p.Ile596Leu) c.27+2385T>A | |
| 6 | g.116120330T>C | CA365386865 | COL10A1,NT5DC1 | c.529+2385T>C (n.529+2385T>C) c.1786A>G (p.Ile596Val) c.27+2385T>C | |
| 6 | g.116120330T>G | CA365386866 | COL10A1,NT5DC1 | c.529+2385T>G (n.529+2385T>G) c.1786A>C (p.Ile596Leu) c.27+2385T>G | |
| 6 | g.116120331T>A | CA451899462 | COL10A1,NT5DC1 | c.529+2386T>A (n.529+2386T>A) c.1785A>T (p.Gly595=) c.27+2386T>A | |
| 6 | g.116120331T>C | CA451899463 | COL10A1,NT5DC1 | c.529+2386T>C (n.529+2386T>C) c.1785A>G (p.Gly595=) c.27+2386T>C | |
| 6 | g.116120331T>G | CA451899464 | COL10A1,NT5DC1 | c.529+2386T>G (n.529+2386T>G) c.1785A>C (p.Gly595=) c.27+2386T>G | |
| 6 | g.116120332C>A | CA365386871 | COL10A1,NT5DC1 | c.529+2387C>A (n.529+2387C>A) c.1784G>T (p.Gly595Val) c.27+2387C>A | |
| 6 | g.116120332C= | CA1657093287 | COL10A1,NT5DC1 | c.529+2387C= (n.529+2387C=) c.1784G= (p.Gly595=) c.27+2387C= | |
| 6 | g.116120332C>G | CA365386873 | COL10A1,NT5DC1 | c.529+2387C>G (n.529+2387C>G) c.1784G>C (p.Gly595Ala) c.27+2387C>G | ClinVar |
| 6 | g.116120332C>T | CA127223 | COL10A1,NT5DC1 | c.529+2387C>T (n.529+2387C>T) c.1784G>A (p.Gly595Glu) c.27+2387C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.116120333C>A | CA365386875 | COL10A1,NT5DC1 | c.529+2388C>A (n.529+2388C>A) c.1783G>T (p.Gly595Ter) c.27+2388C>A | gnomAD v4 |
| 6 | g.116120333C>G | CA365386876 | COL10A1,NT5DC1 | c.529+2388C>G (n.529+2388C>G) c.1783G>C (p.Gly595Arg) c.27+2388C>G | |
| 6 | g.116120333C>T | CA365386878 | COL10A1,NT5DC1 | c.529+2388C>T (n.529+2388C>T) c.1783G>A (p.Gly595Arg) c.27+2388C>T | ClinVar dbSNP |
| 6 | g.116120334T>A | CA451899467 | COL10A1,NT5DC1 | c.529+2389T>A (n.529+2389T>A) c.1782A>T (p.Pro594=) c.27+2389T>A | |
| 6 | g.116120334T>C | CA3968115 | COL10A1,NT5DC1 | c.529+2389T>C (n.529+2389T>C) c.1782A>G (p.Pro594=) c.27+2389T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120334T>G | CA451899469 | COL10A1,NT5DC1 | c.529+2389T>G (n.529+2389T>G) c.1782A>C (p.Pro594=) c.27+2389T>G | |
| 6 | g.116120334T= | CA1657093288 | COL10A1,NT5DC1 | c.529+2389T= (n.529+2389T=) c.1782A= (p.Pro594=) c.27+2389T= | |
| 6 | g.116120335G>A | CA365386880 | COL10A1,NT5DC1 | c.529+2390G>A (n.529+2390G>A) c.1781C>T (p.Pro594Leu) c.27+2390G>A | |
| 6 | g.116120335G>C | CA365386884 | COL10A1,NT5DC1 | c.529+2390G>C (n.529+2390G>C) c.1781C>G (p.Pro594Arg) c.27+2390G>C | |
| 6 | g.116120335G>T | CA365386885 | COL10A1,NT5DC1 | c.529+2390G>T (n.529+2390G>T) c.1781C>A (p.Pro594Gln) c.27+2390G>T | |
| 6 | g.116120336G>A | CA365386886 | COL10A1,NT5DC1 | c.529+2391G>A (n.529+2391G>A) c.1780C>T (p.Pro594Ser) c.27+2391G>A | dbSNP |
| 6 | g.116120336G>C | CA365386887 | COL10A1,NT5DC1 | c.529+2391G>C (n.529+2391G>C) c.1780C>G (p.Pro594Ala) c.27+2391G>C | |
| 6 | g.116120336G= | CA1657093289 | COL10A1,NT5DC1 | c.529+2391G= (n.529+2391G=) c.1780C= (p.Pro594=) c.27+2391G= | |
| 6 | g.116120336G>T | CA365386888 | COL10A1,NT5DC1 | c.529+2391G>T (n.529+2391G>T) c.1780C>A (p.Pro594Thr) c.27+2391G>T | COSMIC |
| 6 | g.116120337T>A | CA451899471 | COL10A1,NT5DC1 | c.529+2392T>A (n.529+2392T>A) c.1779A>T (p.Ile593=) c.27+2392T>A | gnomAD v3 gnomAD v4 |
| 6 | g.116120337T>C | CA365386889 | COL10A1,NT5DC1 | c.529+2392T>C (n.529+2392T>C) c.1779A>G (p.Ile593Met) c.27+2392T>C | |
| 6 | g.116120337T>G | CA451899472 | COL10A1,NT5DC1 | c.529+2392T>G (n.529+2392T>G) c.1779A>C (p.Ile593=) c.27+2392T>G | dbSNP |
| 6 | g.116120337T= | CA1657093290 | COL10A1,NT5DC1 | c.529+2392T= (n.529+2392T=) c.1779A= (p.Ile593=) c.27+2392T= | |
| 6 | g.116120338A>C | CA365386894 | COL10A1,NT5DC1 | c.529+2393A>C (n.529+2393A>C) c.1778T>G (p.Ile593Arg) c.27+2393A>C | |
| 6 | g.116120338A>G | CA365386893 | COL10A1,NT5DC1 | c.529+2393A>G (n.529+2393A>G) c.1778T>C (p.Ile593Thr) c.27+2393A>G | |
| 6 | g.116120338A>T | CA365386891 | COL10A1,NT5DC1 | c.529+2393A>T (n.529+2393A>T) c.1778T>A (p.Ile593Lys) c.27+2393A>T | |
| 6 | g.116120339T>A | CA365386896 | COL10A1,NT5DC1 | c.529+2394T>A (n.529+2394T>A) c.1777A>T (p.Ile593Leu) c.27+2394T>A | |
| 6 | g.116120339T>C | CA365386897 | COL10A1,NT5DC1 | c.529+2394T>C (n.529+2394T>C) c.1777A>G (p.Ile593Val) c.27+2394T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120339T>G | CA365386899 | COL10A1,NT5DC1 | c.529+2394T>G (n.529+2394T>G) c.1777A>C (p.Ile593Leu) c.27+2394T>G | |
| 6 | g.116120339T= | CA1657093291 | COL10A1,NT5DC1 | c.529+2394T= (n.529+2394T=) c.1777A= (p.Ile593=) c.27+2394T= | |
| 6 | g.116120340C>A | CA365386901 | COL10A1,NT5DC1 | c.529+2395C>A (n.529+2395C>A) c.1776G>T (p.Gln592His) c.27+2395C>A | |
| 6 | g.116120340C= | CA1657093292 | COL10A1,NT5DC1 | c.529+2395C= (n.529+2395C=) c.1776G= (p.Gln592=) c.27+2395C= | |
| 6 | g.116120340C>G | CA365386902 | COL10A1,NT5DC1 | c.529+2395C>G (n.529+2395C>G) c.1776G>C (p.Gln592His) c.27+2395C>G | |
| 6 | g.116120340C>T | CA145908447 | COL10A1,NT5DC1 | c.529+2395C>T (n.529+2395C>T) c.1776G>A (p.Gln592=) c.27+2395C>T | dbSNP |
| 6 | g.116120341T>A | CA365386903 | COL10A1,NT5DC1 | c.529+2396T>A (n.529+2396T>A) c.1775A>T (p.Gln592Leu) c.27+2396T>A | |
| 6 | g.116120341T>C | CA365386904 | COL10A1,NT5DC1 | c.529+2396T>C (n.529+2396T>C) c.1775A>G (p.Gln592Arg) c.27+2396T>C | dbSNP |
| 6 | g.116120341T>G | CA365386906 | COL10A1,NT5DC1 | c.529+2396T>G (n.529+2396T>G) c.1775A>C (p.Gln592Pro) c.27+2396T>G | |
| 6 | g.116120341dup | CA2573052568 | COL10A1,NT5DC1 | c.529+2396dup (n.529+2396dup) c.1775dup (p.Ile593AspfsTer24) c.27+2396dup | ClinVar dbSNP |
| 6 | g.116120341_116120342insTTACTTGTCA | CA2772728973 | COL10A1,NT5DC1 | c.529+2396_529+2397insTTACTTGTCA (n.529+2396_529+2397insTTACTTGTCA) c.1774_1775insTGACAAGTAA (p.Gln592LeufsTer28) c.27+2396_27+2397insTTACTTGTCA | |
| 6 | g.116120342G>A | CA365386908 | COL10A1,NT5DC1 | c.529+2397G>A (n.529+2397G>A) c.1774C>T (p.Gln592Ter) c.27+2397G>A | |
| 6 | g.116120342G>C | CA365386910 | COL10A1,NT5DC1 | c.529+2397G>C (n.529+2397G>C) c.1774C>G (p.Gln592Glu) c.27+2397G>C | |
| 6 | g.116120342G>T | CA365386911 | COL10A1,NT5DC1 | c.529+2397G>T (n.529+2397G>T) c.1774C>A (p.Gln592Lys) c.27+2397G>T | gnomAD v3 gnomAD v4 |
| 6 | g.116120343A= | CA1657093293 | COL10A1,NT5DC1 | c.529+2398A= (n.529+2398A=) c.1773T= (p.Cys591=) c.27+2398A= | |
| 6 | g.116120343A>C | CA365386912 | COL10A1,NT5DC1 | c.529+2398A>C (n.529+2398A>C) c.1773T>G (p.Cys591Trp) c.27+2398A>C | |
| 6 | g.116120343A>G | CA451899479 | COL10A1,NT5DC1 | c.529+2398A>G (n.529+2398A>G) c.1773T>C (p.Cys591=) c.27+2398A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.116120343A>T | CA365386914 | COL10A1,NT5DC1 | c.529+2398A>T (n.529+2398A>T) c.1773T>A (p.Cys591Ter) c.27+2398A>T | |
| 6 | g.116120343_116120344insTAC | CA2772728975 | COL10A1,NT5DC1 | c.529+2398_529+2399insTAC (n.529+2398_529+2399insTAC) c.1772_1773insGTA (p.Cys591delinsTrpTyr) c.27+2398_27+2399insTAC | |
| 6 | g.116120344C>A | CA365386917 | COL10A1,NT5DC1 | c.529+2399C>A (n.529+2399C>A) c.1772G>T (p.Cys591Phe) c.27+2399C>A | ClinVar dbSNP |
| 6 | g.116120344C>G | CA365386918 | COL10A1,NT5DC1 | c.529+2399C>G (n.529+2399C>G) c.1772G>C (p.Cys591Ser) c.27+2399C>G | |
| 6 | g.116120344C>T | CA365386916 | COL10A1,NT5DC1 | c.529+2399C>T (n.529+2399C>T) c.1772G>A (p.Cys591Tyr) c.27+2399C>T | ClinVar dbSNP |
| 6 | g.116120345A= | CA1657093294 | COL10A1,NT5DC1 | c.529+2400A= (n.529+2400A=) c.1771T= (p.Cys591=) c.27+2400A= | |
| 6 | g.116120345A>C | CA365386919 | COL10A1,NT5DC1 | c.529+2400A>C (n.529+2400A>C) c.1771T>G (p.Cys591Gly) c.27+2400A>C | ClinVar dbSNP |
| 6 | g.116120345A>G | CA127212 | COL10A1,NT5DC1 | c.529+2400A>G (n.529+2400A>G) c.1771T>C (p.Cys591Arg) c.27+2400A>G | ClinVar dbSNP |
| 6 | g.116120345A>T | CA365386920 | COL10A1,NT5DC1 | c.529+2400A>T (n.529+2400A>T) c.1771T>A (p.Cys591Ser) c.27+2400A>T | |
| 6 | g.116120347_116120350del | CA2695206898 | COL10A1,NT5DC1 | c.529+2402_529+2405del (n.529+2402_529+2405del) c.1768_1771del (p.Thr590ValfsTer15) c.27+2402_27+2405del | |
| 6 | g.116120348_116120352del | CA2695206897 | COL10A1,NT5DC1 | c.529+2403_529+2407del (n.529+2403_529+2407del) c.1767_1771del (p.Phe589LeufsTer26) c.27+2403_27+2407del | |
| 6 | g.116120346A>C | CA451899484 | COL10A1,NT5DC1 | c.529+2401A>C (n.529+2401A>C) c.1770T>G (p.Thr590=) c.27+2401A>C | |
| 6 | g.116120346A>G | CA451899485 | COL10A1,NT5DC1 | c.529+2401A>G (n.529+2401A>G) c.1770T>C (p.Thr590=) c.27+2401A>G | gnomAD v3 gnomAD v4 |
| 6 | g.116120346A>T | CA451899486 | COL10A1,NT5DC1 | c.529+2401A>T (n.529+2401A>T) c.1770T>A (p.Thr590=) c.27+2401A>T | |
| 6 | g.116120347G>A | CA3968116 | COL10A1,NT5DC1 | c.529+2402G>A (n.529+2402G>A) c.1769C>T (p.Thr590Ile) c.27+2402G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120347G>C | CA365386922 | COL10A1,NT5DC1 | c.529+2402G>C (n.529+2402G>C) c.1769C>G (p.Thr590Ser) c.27+2402G>C | |
| 6 | g.116120347G= | CA1657093295 | COL10A1,NT5DC1 | c.529+2402G= (n.529+2402G=) c.1769C= (p.Thr590=) c.27+2402G= | |
| 6 | g.116120347G>T | CA365386924 | COL10A1,NT5DC1 | c.529+2402G>T (n.529+2402G>T) c.1769C>A (p.Thr590Asn) c.27+2402G>T | |
| 6 | g.116120348T>A | CA365386928 | COL10A1,NT5DC1 | c.529+2403T>A (n.529+2403T>A) c.1768A>T (p.Thr590Ser) c.27+2403T>A | |
| 6 | g.116120348T>C | CA365386926 | COL10A1,NT5DC1 | c.529+2403T>C (n.529+2403T>C) c.1768A>G (p.Thr590Ala) c.27+2403T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120348T>G | CA365386927 | COL10A1,NT5DC1 | c.529+2403T>G (n.529+2403T>G) c.1768A>C (p.Thr590Pro) c.27+2403T>G | |
| 6 | g.116120348T= | CA1657093296 | COL10A1,NT5DC1 | c.529+2403T= (n.529+2403T=) c.1768A= (p.Thr590=) c.27+2403T= | |
| 6 | g.116120349A= | CA1657093297 | COL10A1,NT5DC1 | c.529+2404A= (n.529+2404A=) c.1767T= (p.Phe589=) c.27+2404A= | |
| 6 | g.116120349A>C | CA365386930 | COL10A1,NT5DC1 | c.529+2404A>C (n.529+2404A>C) c.1767T>G (p.Phe589Leu) c.27+2404A>C | |
| 6 | g.116120349A>G | CA451899492 | COL10A1,NT5DC1 | c.529+2404A>G (n.529+2404A>G) c.1767T>C (p.Phe589=) c.27+2404A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120349A>T | CA365386931 | COL10A1,NT5DC1 | c.529+2404A>T (n.529+2404A>T) c.1767T>A (p.Phe589Leu) c.27+2404A>T | |
| 6 | g.116120351dup | CA2695206899 | COL10A1,NT5DC1 | c.529+2406dup (n.529+2406dup) c.1767dup (p.Thr590TyrfsTer27) c.27+2406dup | |
| 6 | g.116120349_116120350insTT | CA915943616 | COL10A1,NT5DC1 | c.529+2404_529+2405insTT (n.529+2404_529+2405insTT) c.1766_1767insAA (p.Phe589LeufsTer18) c.27+2404_27+2405insTT | ClinVar dbSNP |
| 6 | g.116120350A>C | CA365386933 | COL10A1,NT5DC1 | c.529+2405A>C (n.529+2405A>C) c.1766T>G (p.Phe589Cys) c.27+2405A>C | |
| 6 | g.116120350A>G | CA365386935 | COL10A1,NT5DC1 | c.529+2405A>G (n.529+2405A>G) c.1766T>C (p.Phe589Ser) c.27+2405A>G | ClinVar |
| 6 | g.116120350A>T | CA365386939 | COL10A1,NT5DC1 | c.529+2405A>T (n.529+2405A>T) c.1766T>A (p.Phe589Tyr) c.27+2405A>T | |
| 6 | g.116120351A>C | CA365386943 | COL10A1,NT5DC1 | c.529+2406A>C (n.529+2406A>C) c.1765T>G (p.Phe589Val) c.27+2406A>C | |
| 6 | g.116120351A>G | CA365386940 | COL10A1,NT5DC1 | c.529+2406A>G (n.529+2406A>G) c.1765T>C (p.Phe589Leu) c.27+2406A>G | |
| 6 | g.116120351A>T | CA365386942 | COL10A1,NT5DC1 | c.529+2406A>T (n.529+2406A>T) c.1765T>A (p.Phe589Ile) c.27+2406A>T | |
| 6 | g.116120352G>A | CA451899497 | COL10A1,NT5DC1 | c.529+2407G>A (n.529+2407G>A) c.1764C>T (p.Ile588=) c.27+2407G>A | |
| 6 | g.116120352G>C | CA365386945 | COL10A1,NT5DC1 | c.529+2407G>C (n.529+2407G>C) c.1764C>G (p.Ile588Met) c.27+2407G>C | |
| 6 | g.116120352G>T | CA451899498 | COL10A1,NT5DC1 | c.529+2407G>T (n.529+2407G>T) c.1764C>A (p.Ile588=) c.27+2407G>T | |
| 6 | g.116120353A= | CA1657093298 | COL10A1,NT5DC1 | c.529+2408A= (n.529+2408A=) c.1763T= (p.Ile588=) c.27+2408A= | |
| 6 | g.116120353A>C | CA365386946 | COL10A1,NT5DC1 | c.529+2408A>C (n.529+2408A>C) c.1763T>G (p.Ile588Ser) c.27+2408A>C | |
| 6 | g.116120353A>G | CA3968117 | COL10A1,NT5DC1 | c.529+2408A>G (n.529+2408A>G) c.1763T>C (p.Ile588Thr) c.27+2408A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120353A>T | CA365386951 | COL10A1,NT5DC1 | c.529+2408A>T (n.529+2408A>T) c.1763T>A (p.Ile588Asn) c.27+2408A>T | |
| 6 | g.116120354T>A | CA365386952 | COL10A1,NT5DC1 | c.529+2409T>A (n.529+2409T>A) c.1762A>T (p.Ile588Phe) c.27+2409T>A | |
| 6 | g.116120354T>C | CA365386954 | COL10A1,NT5DC1 | c.529+2409T>C (n.529+2409T>C) c.1762A>G (p.Ile588Val) c.27+2409T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120354T>G | CA365386956 | COL10A1,NT5DC1 | c.529+2409T>G (n.529+2409T>G) c.1762A>C (p.Ile588Leu) c.27+2409T>G | COSMIC |
| 6 | g.116120354T= | CA1657093299 | COL10A1,NT5DC1 | c.529+2409T= (n.529+2409T=) c.1762A= (p.Ile588=) c.27+2409T= | |
| 6 | g.116120355T>A | CA451899500 | COL10A1,NT5DC1 | c.529+2410T>A (n.529+2410T>A) c.1761A>T (p.Gly587=) c.27+2410T>A | |
| 6 | g.116120355T>C | CA451899501 | COL10A1,NT5DC1 | c.529+2410T>C (n.529+2410T>C) c.1761A>G (p.Gly587=) c.27+2410T>C | gnomAD v4 |
| 6 | g.116120355T>G | CA451899502 | COL10A1,NT5DC1 | c.529+2410T>G (n.529+2410T>G) c.1761A>C (p.Gly587=) c.27+2410T>G | |
| 6 | g.116120356C>A | CA365386957 | COL10A1,NT5DC1 | c.529+2411C>A (n.529+2411C>A) c.1760G>T (p.Gly587Val) c.27+2411C>A | |
| 6 | g.116120356C>G | CA365386958 | COL10A1,NT5DC1 | c.529+2411C>G (n.529+2411C>G) c.1760G>C (p.Gly587Ala) c.27+2411C>G | gnomAD v4 |
| 6 | g.116120356C>T | CA365386960 | COL10A1,NT5DC1 | c.529+2411C>T (n.529+2411C>T) c.1760G>A (p.Gly587Glu) c.27+2411C>T | |
| 6 | g.116120357del | CA2573140420 | COL10A1,NT5DC1 | c.529+2412del (n.529+2412del) c.1760del (p.Gly587GlufsTer19) c.27+2412del | ClinVar dbSNP |
| 6 | g.116120357C>A | CA365386961 | COL10A1,NT5DC1 | c.529+2412C>A (n.529+2412C>A) c.1759G>T (p.Gly587Ter) c.27+2412C>A | |
| 6 | g.116120357C= | CA1657093300 | COL10A1,NT5DC1 | c.529+2412C= (n.529+2412C=) c.1759G= (p.Gly587=) c.27+2412C= | |
| 6 | g.116120357C>G | CA365386963 | COL10A1,NT5DC1 | c.529+2412C>G (n.529+2412C>G) c.1759G>C (p.Gly587Arg) c.27+2412C>G | gnomAD v4 |
| 6 | g.116120357C>T | CA3968118 | COL10A1,NT5DC1 | c.529+2412C>T (n.529+2412C>T) c.1759G>A (p.Gly587Arg) c.27+2412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120358A>C | CA451899503 | COL10A1,NT5DC1 | c.529+2413A>C (n.529+2413A>C) c.1758T>G (p.Thr586=) c.27+2413A>C | |
| 6 | g.116120358A>G | CA451899504 | COL10A1,NT5DC1 | c.529+2413A>G (n.529+2413A>G) c.1758T>C (p.Thr586=) c.27+2413A>G | gnomAD v4 |
| 6 | g.116120358A>T | CA451899505 | COL10A1,NT5DC1 | c.529+2413A>T (n.529+2413A>T) c.1758T>A (p.Thr586=) c.27+2413A>T | |
| 6 | g.116120359G>A | CA365386968 | COL10A1,NT5DC1 | c.529+2414G>A (n.529+2414G>A) c.1757C>T (p.Thr586Ile) c.27+2414G>A | |
| 6 | g.116120359G>C | CA365386965 | COL10A1,NT5DC1 | c.529+2414G>C (n.529+2414G>C) c.1757C>G (p.Thr586Ser) c.27+2414G>C | |
| 6 | g.116120359G>T | CA365386966 | COL10A1,NT5DC1 | c.529+2414G>T (n.529+2414G>T) c.1757C>A (p.Thr586Asn) c.27+2414G>T | |
| 6 | g.116120360T>A | CA365386970 | COL10A1,NT5DC1 | c.529+2415T>A (n.529+2415T>A) c.1756A>T (p.Thr586Ser) c.27+2415T>A | |
| 6 | g.116120360T>C | CA365386974 | COL10A1,NT5DC1 | c.529+2415T>C (n.529+2415T>C) c.1756A>G (p.Thr586Ala) c.27+2415T>C | |
| 6 | g.116120360T>G | CA365386975 | COL10A1,NT5DC1 | c.529+2415T>G (n.529+2415T>G) c.1756A>C (p.Thr586Pro) c.27+2415T>G | ClinVar dbSNP |
| 6 | g.116120361C>A | CA365386977 | COL10A1,NT5DC1 | c.529+2416C>A (n.529+2416C>A) c.1755G>T (p.Arg585Ser) c.27+2416C>A | |
| 6 | g.116120361C>G | CA365386978 | COL10A1,NT5DC1 | c.529+2416C>G (n.529+2416C>G) c.1755G>C (p.Arg585Ser) c.27+2416C>G | |
| 6 | g.116120361C>T | CA451899507 | COL10A1,NT5DC1 | c.529+2416C>T (n.529+2416C>T) c.1755G>A (p.Arg585=) c.27+2416C>T | |
| 6 | g.116120362C>A | CA365386979 | COL10A1,NT5DC1 | c.529+2417C>A (n.529+2417C>A) c.1754G>T (p.Arg585Met) c.27+2417C>A | |
| 6 | g.116120362C>G | CA365386980 | COL10A1,NT5DC1 | c.529+2417C>G (n.529+2417C>G) c.1754G>C (p.Arg585Thr) c.27+2417C>G | |
| 6 | g.116120362C>T | CA365386981 | COL10A1,NT5DC1 | c.529+2417C>T (n.529+2417C>T) c.1754G>A (p.Arg585Lys) c.27+2417C>T | gnomAD v4 |
| 6 | g.116120363T>A | CA365386982 | COL10A1,NT5DC1 | c.529+2418T>A (n.529+2418T>A) c.1753A>T (p.Arg585Trp) c.27+2418T>A | |
| 6 | g.116120363T>C | CA365386989 | COL10A1,NT5DC1 | c.529+2418T>C (n.529+2418T>C) c.1753A>G (p.Arg585Gly) c.27+2418T>C | |
| 6 | g.116120363T>G | CA451899508 | COL10A1,NT5DC1 | c.529+2418T>G (n.529+2418T>G) c.1753A>C (p.Arg585=) c.27+2418T>G | |
| 6 | g.116120364T>A | CA451899510 | COL10A1,NT5DC1 | c.529+2419T>A (n.529+2419T>A) c.1752A>T (p.Pro584=) c.27+2419T>A | |
| 6 | g.116120364T>C | CA451899512 | COL10A1,NT5DC1 | c.529+2419T>C (n.529+2419T>C) c.1752A>G (p.Pro584=) c.27+2419T>C | |
| 6 | g.116120364T>G | CA451899513 | COL10A1,NT5DC1 | c.529+2419T>G (n.529+2419T>G) c.1752A>C (p.Pro584=) c.27+2419T>G | |
| 6 | g.116120365G>A | CA365386991 | COL10A1,NT5DC1 | c.529+2420G>A (n.529+2420G>A) c.1751C>T (p.Pro584Leu) c.27+2420G>A | |
| 6 | g.116120365G>C | CA365386992 | COL10A1,NT5DC1 | c.529+2420G>C (n.529+2420G>C) c.1751C>G (p.Pro584Arg) c.27+2420G>C | |
| 6 | g.116120365G>T | CA365386994 | COL10A1,NT5DC1 | c.529+2420G>T (n.529+2420G>T) c.1751C>A (p.Pro584Gln) c.27+2420G>T | gnomAD v4 |
| 6 | g.116120366G>A | CA365386999 | COL10A1,NT5DC1 | c.529+2421G>A (n.529+2421G>A) c.1750C>T (p.Pro584Ser) c.27+2421G>A | |
| 6 | g.116120366G>C | CA365386997 | COL10A1,NT5DC1 | c.529+2421G>C (n.529+2421G>C) c.1750C>G (p.Pro584Ala) c.27+2421G>C | |
| 6 | g.116120366G>T | CA365386995 | COL10A1,NT5DC1 | c.529+2421G>T (n.529+2421G>T) c.1750C>A (p.Pro584Thr) c.27+2421G>T | |
| 6 | g.116120367G>A | CA451899515 | COL10A1,NT5DC1 | c.529+2422G>A (n.529+2422G>A) c.1749C>T (p.Asp583=) c.27+2422G>A | |
| 6 | g.116120367G>C | CA365387001 | COL10A1,NT5DC1 | c.529+2422G>C (n.529+2422G>C) c.1749C>G (p.Asp583Glu) c.27+2422G>C | |
| 6 | g.116120367G>T | CA365387002 | COL10A1,NT5DC1 | c.529+2422G>T (n.529+2422G>T) c.1749C>A (p.Asp583Glu) c.27+2422G>T | |
| 6 | g.116120368T>A | CA365387003 | COL10A1,NT5DC1 | c.529+2423T>A (n.529+2423T>A) c.1748A>T (p.Asp583Val) c.27+2423T>A | |
| 6 | g.116120368T>C | CA365387004 | COL10A1,NT5DC1 | c.529+2423T>C (n.529+2423T>C) c.1748A>G (p.Asp583Gly) c.27+2423T>C | |
| 6 | g.116120368T>G | CA365387005 | COL10A1,NT5DC1 | c.529+2423T>G (n.529+2423T>G) c.1748A>C (p.Asp583Ala) c.27+2423T>G | |
| 6 | g.116120369C>A | CA365387006 | COL10A1,NT5DC1 | c.529+2424C>A (n.529+2424C>A) c.1747G>T (p.Asp583Tyr) c.27+2424C>A | |
| 6 | g.116120369C= | CA1657093301 | COL10A1,NT5DC1 | c.529+2424C= (n.529+2424C=) c.1747G= (p.Asp583=) c.27+2424C= | |
| 6 | g.116120369C>G | CA365387007 | COL10A1,NT5DC1 | c.529+2424C>G (n.529+2424C>G) c.1747G>C (p.Asp583His) c.27+2424C>G | |
| 6 | g.116120369C>T | CA365387008 | COL10A1,NT5DC1 | c.529+2424C>T (n.529+2424C>T) c.1747G>A (p.Asp583Asn) c.27+2424C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120370A>C | CA365387009 | COL10A1,NT5DC1 | c.529+2425A>C (n.529+2425A>C) c.1746T>G (p.Tyr582Ter) c.27+2425A>C | |
| 6 | g.116120370A>G | CA451899516 | COL10A1,NT5DC1 | c.529+2425A>G (n.529+2425A>G) c.1746T>C (p.Tyr582=) c.27+2425A>G | |
| 6 | g.116120370A>T | CA365387010 | COL10A1,NT5DC1 | c.529+2425A>T (n.529+2425A>T) c.1746T>A (p.Tyr582Ter) c.27+2425A>T | |
| 6 | g.116120371T>A | CA365387012 | COL10A1,NT5DC1 | c.529+2426T>A (n.529+2426T>A) c.1745A>T (p.Tyr582Phe) c.27+2426T>A | |
| 6 | g.116120371T>C | CA365387013 | COL10A1,NT5DC1 | c.529+2426T>C (n.529+2426T>C) c.1745A>G (p.Tyr582Cys) c.27+2426T>C | ClinVar |
| 6 | g.116120371T>G | CA365387014 | COL10A1,NT5DC1 | c.529+2426T>G (n.529+2426T>G) c.1745A>C (p.Tyr582Ser) c.27+2426T>G | |
| 6 | g.116120372A>C | CA365387016 | COL10A1,NT5DC1 | c.529+2427A>C (n.529+2427A>C) c.1744T>G (p.Tyr582Asp) c.27+2427A>C | |
| 6 | g.116120372A>G | CA365387018 | COL10A1,NT5DC1 | c.529+2427A>G (n.529+2427A>G) c.1744T>C (p.Tyr582His) c.27+2427A>G | COSMIC |
| 6 | g.116120372A>T | CA365387015 | COL10A1,NT5DC1 | c.529+2427A>T (n.529+2427A>T) c.1744T>A (p.Tyr582Asn) c.27+2427A>T | |
| 6 | g.116120373A= | CA1657093302 | COL10A1,NT5DC1 | c.529+2428A= (n.529+2428A=) c.1743T= (p.His581=) c.27+2428A= | |
| 6 | g.116120373A>C | CA365387019 | COL10A1,NT5DC1 | c.529+2428A>C (n.529+2428A>C) c.1743T>G (p.His581Gln) c.27+2428A>C | gnomAD v4 |
| 6 | g.116120373A>G | CA3968119 | COL10A1,NT5DC1 | c.529+2428A>G (n.529+2428A>G) c.1743T>C (p.His581=) c.27+2428A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120373A>T | CA145908495 | COL10A1,NT5DC1 | c.529+2428A>T (n.529+2428A>T) c.1743T>A (p.His581Gln) c.27+2428A>T | dbSNP |
| 6 | g.116120374T>A | CA365387020 | COL10A1,NT5DC1 | c.529+2429T>A (n.529+2429T>A) c.1742A>T (p.His581Leu) c.27+2429T>A | |
| 6 | g.116120374T>C | CA365387021 | COL10A1,NT5DC1 | c.529+2429T>C (n.529+2429T>C) c.1742A>G (p.His581Arg) c.27+2429T>C | gnomAD v4 |
| 6 | g.116120374T>G | CA365387022 | COL10A1,NT5DC1 | c.529+2429T>G (n.529+2429T>G) c.1742A>C (p.His581Pro) c.27+2429T>G | |
| 6 | g.116120375G>A | CA365387023 | COL10A1,NT5DC1 | c.529+2430G>A (n.529+2430G>A) c.1741C>T (p.His581Tyr) c.27+2430G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120375G>C | CA365387024 | COL10A1,NT5DC1 | c.529+2430G>C (n.529+2430G>C) c.1741C>G (p.His581Asp) c.27+2430G>C | dbSNP gnomAD v4 |
| 6 | g.116120375G= | CA1657093303 | COL10A1,NT5DC1 | c.529+2430G= (n.529+2430G=) c.1741C= (p.His581=) c.27+2430G= | |
| 6 | g.116120375G>T | CA365387025 | COL10A1,NT5DC1 | c.529+2430G>T (n.529+2430G>T) c.1741C>A (p.His581Asn) c.27+2430G>T | ClinVar |