Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.116119972del | CA2680093521 | COL10A1,NT5DC1 | c.529+2027del (n.529+2027del) c.*105del (n.*105del) c.27+2027del | gnomAD v4 |
6 | g.116119972A>G | CA2680093522 | COL10A1,NT5DC1 | c.529+2027A>G (n.529+2027A>G) c.*101T>C (n.*101T>C) c.27+2027A>G | gnomAD v4 |
6 | g.116119972A>T | CA2680093523 | COL10A1,NT5DC1 | c.529+2027A>T (n.529+2027A>T) c.*101T>A (n.*101T>A) c.27+2027A>T | gnomAD v4 |
6 | g.116119973T>C | CA145907923 | COL10A1,NT5DC1 | c.529+2028T>C (n.529+2028T>C) c.*100A>G (n.*100A>G) c.27+2028T>C | dbSNP gnomAD v4 |
6 | g.116119973T= | CA1657093104 | COL10A1,NT5DC1 | c.529+2028T= (n.529+2028T=) c.*100A= (n.*100A=) c.27+2028T= | |
6 | g.116119974T>C | CA2578720556 | COL10A1,NT5DC1 | c.529+2029T>C (n.529+2029T>C) c.*99A>G (n.*99A>G) c.27+2029T>C | |
6 | g.116119975A= | CA1657093105 | COL10A1,NT5DC1 | c.529+2030A= (n.529+2030A=) c.*98T= (n.*98T=) c.27+2030A= | |
6 | g.116119975A>C | CA2680093524 | COL10A1,NT5DC1 | c.529+2030A>C (n.529+2030A>C) c.*98T>G (n.*98T>G) c.27+2030A>C | gnomAD v4 |
6 | g.116119975A>G | CA817679439 | COL10A1,NT5DC1 | c.529+2030A>G (n.529+2030A>G) c.*98T>C (n.*98T>C) c.27+2030A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116119975A>T | CA2680093525 | COL10A1,NT5DC1 | c.529+2030A>T (n.529+2030A>T) c.*98T>A (n.*98T>A) c.27+2030A>T | gnomAD v4 |
6 | g.116119976C>A | CA2680093526 | COL10A1,NT5DC1 | c.529+2031C>A (n.529+2031C>A) c.*97G>T (n.*97G>T) c.27+2031C>A | gnomAD v4 |
6 | g.116119976C>G | CA2680093527 | COL10A1,NT5DC1 | c.529+2031C>G (n.529+2031C>G) c.*97G>C (n.*97G>C) c.27+2031C>G | gnomAD v4 |
6 | g.116119976C>T | CA2680093528 | COL10A1,NT5DC1 | c.529+2031C>T (n.529+2031C>T) c.*97G>A (n.*97G>A) c.27+2031C>T | gnomAD v4 |
6 | g.116119977A= | CA1657093106 | COL10A1,NT5DC1 | c.529+2032A= (n.529+2032A=) c.*96T= (n.*96T=) c.27+2032A= | |
6 | g.116119977A>C | CA817679441 | COL10A1,NT5DC1 | c.529+2032A>C (n.529+2032A>C) c.*96T>G (n.*96T>G) c.27+2032A>C | dbSNP |
6 | g.116119977A>G | CA145907942 | COL10A1,NT5DC1 | c.529+2032A>G (n.529+2032A>G) c.*96T>C (n.*96T>C) c.27+2032A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116119978T>A | CA1657093108 | COL10A1,NT5DC1 | c.529+2033T>A (n.529+2033T>A) c.*95A>T (n.*95A>T) c.27+2033T>A | dbSNP |
6 | g.116119978T>C | CA569681633 | COL10A1,NT5DC1 | c.529+2033T>C (n.529+2033T>C) c.*95A>G (n.*95A>G) c.27+2033T>C | gnomAD v2 gnomAD v4 |
6 | g.116119978T= | CA1657093107 | COL10A1,NT5DC1 | c.529+2033T= (n.529+2033T=) c.*95A= (n.*95A=) c.27+2033T= | |
6 | g.116119980C>A | CA1657093110 | COL10A1,NT5DC1 | c.529+2035C>A (n.529+2035C>A) c.*93G>T (n.*93G>T) c.27+2035C>A | dbSNP gnomAD v4 |
6 | g.116119980C= | CA1657093109 | COL10A1,NT5DC1 | c.529+2035C= (n.529+2035C=) c.*93G= (n.*93G=) c.27+2035C= | |
6 | g.116119980C>G | CA1093500467 | COL10A1,NT5DC1 | c.529+2035C>G (n.529+2035C>G) c.*93G>C (n.*93G>C) c.27+2035C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116119981T>G | CA2680093529 | COL10A1,NT5DC1 | c.529+2036T>G (n.529+2036T>G) c.*92A>C (n.*92A>C) c.27+2036T>G | gnomAD v4 |
6 | g.116119982T>C | CA817679450 | COL10A1,NT5DC1 | c.529+2037T>C (n.529+2037T>C) c.*91A>G (n.*91A>G) c.27+2037T>C | dbSNP |
6 | g.116119982T= | CA1657093111 | COL10A1,NT5DC1 | c.529+2037T= (n.529+2037T=) c.*91A= (n.*91A=) c.27+2037T= | |
6 | g.116119983T>C | CA2680093530 | COL10A1,NT5DC1 | c.529+2038T>C (n.529+2038T>C) c.*90A>G (n.*90A>G) c.27+2038T>C | gnomAD v4 |
6 | g.116119984T>G | CA2772728945 | COL10A1,NT5DC1 | c.529+2039T>G (n.529+2039T>G) c.*89A>C (n.*89A>C) c.27+2039T>G | |
6 | g.116119985C>A | CA2680093531 | COL10A1,NT5DC1 | c.529+2040C>A (n.529+2040C>A) c.*88G>T (n.*88G>T) c.27+2040C>A | gnomAD v4 |
6 | g.116119985C= | CA1657093112 | COL10A1,NT5DC1 | c.529+2040C= (n.529+2040C=) c.*88G= (n.*88G=) c.27+2040C= | |
6 | g.116119985C>T | CA1657093113 | COL10A1,NT5DC1 | c.529+2040C>T (n.529+2040C>T) c.*88G>A (n.*88G>A) c.27+2040C>T | dbSNP gnomAD v4 |
6 | g.116119986A>G | CA2772728946 | COL10A1,NT5DC1 | c.529+2041A>G (n.529+2041A>G) c.*87T>C (n.*87T>C) c.27+2041A>G | |
6 | g.116119986A>T | CA2680093532 | COL10A1,NT5DC1 | c.529+2041A>T (n.529+2041A>T) c.*87T>A (n.*87T>A) c.27+2041A>T | gnomAD v4 |
6 | g.116119987G>T | CA2578720557 | COL10A1,NT5DC1 | c.529+2042G>T (n.529+2042G>T) c.*86C>A (n.*86C>A) c.27+2042G>T | gnomAD v4 |
6 | g.116119989C>A | CA2772728947 | COL10A1,NT5DC1 | c.529+2044C>A (n.529+2044C>A) c.*84G>T (n.*84G>T) c.27+2044C>A | |
6 | g.116119989C= | CA1657093114 | COL10A1,NT5DC1 | c.529+2044C= (n.529+2044C=) c.*84G= (n.*84G=) c.27+2044C= | |
6 | g.116119989C>G | CA1657093115 | COL10A1,NT5DC1 | c.529+2044C>G (n.529+2044C>G) c.*84G>C (n.*84G>C) c.27+2044C>G | dbSNP gnomAD v4 |
6 | g.116119989C>T | CA2680093533 | COL10A1,NT5DC1 | c.529+2044C>T (n.529+2044C>T) c.*84G>A (n.*84G>A) c.27+2044C>T | gnomAD v4 |
6 | g.116119990T>C | CA2578720558 | COL10A1,NT5DC1 | c.529+2045T>C (n.529+2045T>C) c.*83A>G (n.*83A>G) c.27+2045T>C | |
6 | g.116119991A= | CA1657093116 | COL10A1,NT5DC1 | c.529+2046A= (n.529+2046A=) c.*82T= (n.*82T=) c.27+2046A= | |
6 | g.116119991A>C | CA817679457 | COL10A1,NT5DC1 | c.529+2046A>C (n.529+2046A>C) c.*82T>G (n.*82T>G) c.27+2046A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116119991A>G | CA817679454 | COL10A1,NT5DC1 | c.529+2046A>G (n.529+2046A>G) c.*82T>C (n.*82T>C) c.27+2046A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116119991A>T | CA2772728948 | COL10A1,NT5DC1 | c.529+2046A>T (n.529+2046A>T) c.*82T>A (n.*82T>A) c.27+2046A>T | |
6 | g.116119992C= | CA1657093117 | COL10A1,NT5DC1 | c.529+2047C= (n.529+2047C=) c.*81G= (n.*81G=) c.27+2047C= | |
6 | g.116119992C>T | CA145907948 | COL10A1,NT5DC1 | c.529+2047C>T (n.529+2047C>T) c.*81G>A (n.*81G>A) c.27+2047C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116119994T>A | CA2578720559 | COL10A1,NT5DC1 | c.529+2049T>A (n.529+2049T>A) c.*79A>T (n.*79A>T) c.27+2049T>A | gnomAD v4 |
6 | g.116119994T>C | CA2680093534 | COL10A1,NT5DC1 | c.529+2049T>C (n.529+2049T>C) c.*79A>G (n.*79A>G) c.27+2049T>C | gnomAD v4 |
6 | g.116119995C>A | CA2680093536 | COL10A1,NT5DC1 | c.529+2050C>A (n.529+2050C>A) c.*78G>T (n.*78G>T) c.27+2050C>A | gnomAD v4 |
6 | g.116119995C>T | CA2680093535 | COL10A1,NT5DC1 | c.529+2050C>T (n.529+2050C>T) c.*78G>A (n.*78G>A) c.27+2050C>T | gnomAD v4 |
6 | g.116119996C= | CA1657093118 | COL10A1,NT5DC1 | c.529+2051C= (n.529+2051C=) c.*77G= (n.*77G=) c.27+2051C= | |
6 | g.116119996C>T | CA817679467 | COL10A1,NT5DC1 | c.529+2051C>T (n.529+2051C>T) c.*77G>A (n.*77G>A) c.27+2051C>T | dbSNP |
6 | g.116119997A= | CA1657093119 | COL10A1,NT5DC1 | c.529+2052A= (n.529+2052A=) c.*76T= (n.*76T=) c.27+2052A= | |
6 | g.116119997A>C | CA1657093120 | COL10A1,NT5DC1 | c.529+2052A>C (n.529+2052A>C) c.*76T>G (n.*76T>G) c.27+2052A>C | dbSNP |
6 | g.116119997A>G | CA145907949 | COL10A1,NT5DC1 | c.529+2052A>G (n.529+2052A>G) c.*76T>C (n.*76T>C) c.27+2052A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116119998T>C | CA2680093537 | COL10A1,NT5DC1 | c.529+2053T>C (n.529+2053T>C) c.*75A>G (n.*75A>G) c.27+2053T>C | gnomAD v4 |
6 | g.116119999A= | CA1657093121 | COL10A1,NT5DC1 | c.529+2054A= (n.529+2054A=) c.*74T= (n.*74T=) c.27+2054A= | |
6 | g.116119999A>G | CA817679474 | COL10A1,NT5DC1 | c.529+2054A>G (n.529+2054A>G) c.*74T>C (n.*74T>C) c.27+2054A>G | dbSNP |
6 | g.116120001G>A | CA2680093538 | COL10A1,NT5DC1 | c.529+2056G>A (n.529+2056G>A) c.*72C>T (n.*72C>T) c.27+2056G>A | gnomAD v4 |
6 | g.116120001G>T | CA2578720560 | COL10A1,NT5DC1 | c.529+2056G>T (n.529+2056G>T) c.*72C>A (n.*72C>A) c.27+2056G>T | gnomAD v4 |
6 | g.116120003A= | CA1657093122 | COL10A1,NT5DC1 | c.529+2058A= (n.529+2058A=) c.*70T= (n.*70T=) c.27+2058A= | |
6 | g.116120003A>C | CA2680093539 | COL10A1,NT5DC1 | c.529+2058A>C (n.529+2058A>C) c.*70T>G (n.*70T>G) c.27+2058A>C | gnomAD v4 |
6 | g.116120003A>G | CA1657093123 | COL10A1,NT5DC1 | c.529+2058A>G (n.529+2058A>G) c.*70T>C (n.*70T>C) c.27+2058A>G | dbSNP |
6 | g.116120004T>G | CA2680093540 | COL10A1,NT5DC1 | c.529+2059T>G (n.529+2059T>G) c.*69A>C (n.*69A>C) c.27+2059T>G | gnomAD v4 |
6 | g.116120005T>G | CA2680093541 | COL10A1,NT5DC1 | c.529+2060T>G (n.529+2060T>G) c.*68A>C (n.*68A>C) c.27+2060T>G | gnomAD v4 |
6 | g.116120006T>C | CA2680093542 | COL10A1,NT5DC1 | c.529+2061T>C (n.529+2061T>C) c.*67A>G (n.*67A>G) c.27+2061T>C | gnomAD v4 |
6 | g.116120007T>G | CA2712868940 | COL10A1,NT5DC1 | c.529+2062T>G (n.529+2062T>G) c.*66A>C (n.*66A>C) c.27+2062T>G | dbSNP |
6 | g.116120008G>A | CA1657093125 | COL10A1,NT5DC1 | c.529+2063G>A (n.529+2063G>A) c.*65C>T (n.*65C>T) c.27+2063G>A | dbSNP |
6 | g.116120008G>C | CA145907950 | COL10A1,NT5DC1 | c.529+2063G>C (n.529+2063G>C) c.*65C>G (n.*65C>G) c.27+2063G>C | dbSNP |
6 | g.116120008G= | CA1657093124 | COL10A1,NT5DC1 | c.529+2063G= (n.529+2063G=) c.*65C= (n.*65C=) c.27+2063G= | |
6 | g.116120008G>T | CA2680093543 | COL10A1,NT5DC1 | c.529+2063G>T (n.529+2063G>T) c.*65C>A (n.*65C>A) c.27+2063G>T | gnomAD v4 |
6 | g.116120010A>G | CA2680093544 | COL10A1,NT5DC1 | c.529+2065A>G (n.529+2065A>G) c.*63T>C (n.*63T>C) c.27+2065A>G | gnomAD v4 |
6 | g.116120011G>C | CA2578720561 | COL10A1,NT5DC1 | c.529+2066G>C (n.529+2066G>C) c.*62C>G (n.*62C>G) c.27+2066G>C | gnomAD v4 |
6 | g.116120011G= | CA1657093126 | COL10A1,NT5DC1 | c.529+2066G= (n.529+2066G=) c.*62C= (n.*62C=) c.27+2066G= | |
6 | g.116120011G>T | CA569681634 | COL10A1,NT5DC1 | c.529+2066G>T (n.529+2066G>T) c.*62C>A (n.*62C>A) c.27+2066G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120012G>C | CA817679479 | COL10A1,NT5DC1 | c.529+2067G>C (n.529+2067G>C) c.*61C>G (n.*61C>G) c.27+2067G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116120012G= | CA1657093127 | COL10A1,NT5DC1 | c.529+2067G= (n.529+2067G=) c.*61C= (n.*61C=) c.27+2067G= | |
6 | g.116120012G>T | CA2680093545 | COL10A1,NT5DC1 | c.529+2067G>T (n.529+2067G>T) c.*61C>A (n.*61C>A) c.27+2067G>T | gnomAD v4 |
6 | g.116120013G>A | CA2578720562 | COL10A1,NT5DC1 | c.529+2068G>A (n.529+2068G>A) c.*60C>T (n.*60C>T) c.27+2068G>A | gnomAD v4 |
6 | g.116120013G>C | CA145907959 | COL10A1,NT5DC1 | c.529+2068G>C (n.529+2068G>C) c.*60C>G (n.*60C>G) c.27+2068G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116120013G= | CA1657093128 | COL10A1,NT5DC1 | c.529+2068G= (n.529+2068G=) c.*60C= (n.*60C=) c.27+2068G= | |
6 | g.116120013G>T | CA2680093546 | COL10A1,NT5DC1 | c.529+2068G>T (n.529+2068G>T) c.*60C>A (n.*60C>A) c.27+2068G>T | gnomAD v4 |
6 | g.116120014T>G | CA145907964 | COL10A1,NT5DC1 | c.529+2069T>G (n.529+2069T>G) c.*59A>C (n.*59A>C) c.27+2069T>G | dbSNP gnomAD v4 |
6 | g.116120014T= | CA1657093129 | COL10A1,NT5DC1 | c.529+2069T= (n.529+2069T=) c.*59A= (n.*59A=) c.27+2069T= | |
6 | g.116120015G>A | CA1657093131 | COL10A1,NT5DC1 | c.529+2070G>A (n.529+2070G>A) c.*58C>T (n.*58C>T) c.27+2070G>A | dbSNP gnomAD v4 |
6 | g.116120015G= | CA1657093130 | COL10A1,NT5DC1 | c.529+2070G= (n.529+2070G=) c.*58C= (n.*58C=) c.27+2070G= | |
6 | g.116120015G>T | CA2680093547 | COL10A1,NT5DC1 | c.529+2070G>T (n.529+2070G>T) c.*58C>A (n.*58C>A) c.27+2070G>T | gnomAD v4 |
6 | g.116120018del | CA2578720563 | COL10A1,NT5DC1 | c.529+2073del (n.529+2073del) c.*58del (n.*58del) c.27+2073del | |
6 | g.116120016G>A | CA2680093548 | COL10A1,NT5DC1 | c.529+2071G>A (n.529+2071G>A) c.*57C>T (n.*57C>T) c.27+2071G>A | gnomAD v4 |
6 | g.116120016G>C | CA1657093133 | COL10A1,NT5DC1 | c.529+2071G>C (n.529+2071G>C) c.*57C>G (n.*57C>G) c.27+2071G>C | dbSNP |
6 | g.116120016G= | CA1657093132 | COL10A1,NT5DC1 | c.529+2071G= (n.529+2071G=) c.*57C= (n.*57C=) c.27+2071G= | |
6 | g.116120016G>T | CA2578720564 | COL10A1,NT5DC1 | c.529+2071G>T (n.529+2071G>T) c.*57C>A (n.*57C>A) c.27+2071G>T | gnomAD v4 |
6 | g.116120017G= | CA1657093134 | COL10A1,NT5DC1 | c.529+2072G= (n.529+2072G=) c.*56C= (n.*56C=) c.27+2072G= | |
6 | g.116120017G>T | CA1657093135 | COL10A1,NT5DC1 | c.529+2072G>T (n.529+2072G>T) c.*56C>A (n.*56C>A) c.27+2072G>T | dbSNP gnomAD v4 |
6 | g.116120018G>A | CA2516849095 | COL10A1,NT5DC1 | c.529+2073G>A (n.529+2073G>A) c.*55C>T (n.*55C>T) c.27+2073G>A | gnomAD v4 |
6 | g.116120018G= | CA1657093137 | COL10A1,NT5DC1 | c.529+2073G= (n.529+2073G=) c.*55C= (n.*55C=) c.27+2073G= | |
6 | g.116120018G>T | CA1657093136 | COL10A1,NT5DC1 | c.529+2073G>T (n.529+2073G>T) c.*55C>A (n.*55C>A) c.27+2073G>T | dbSNP gnomAD v4 |
6 | g.116120019T>C | CA817679482 | COL10A1,NT5DC1 | c.529+2074T>C (n.529+2074T>C) c.*54A>G (n.*54A>G) c.27+2074T>C | dbSNP |
6 | g.116120019T= | CA1657093138 | COL10A1,NT5DC1 | c.529+2074T= (n.529+2074T=) c.*54A= (n.*54A=) c.27+2074T= | |
6 | g.116120020A= | CA1657093139 | COL10A1,NT5DC1 | c.529+2075A= (n.529+2075A=) c.*53T= (n.*53T=) c.27+2075A= | |
6 | g.116120020A>G | CA1657093140 | COL10A1,NT5DC1 | c.529+2075A>G (n.529+2075A>G) c.*53T>C (n.*53T>C) c.27+2075A>G | dbSNP gnomAD v4 |
6 | g.116120021G>A | CA817679483 | COL10A1,NT5DC1 | c.529+2076G>A (n.529+2076G>A) c.*52C>T (n.*52C>T) c.27+2076G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.116120021G>C | CA1093500473 | COL10A1,NT5DC1 | c.529+2076G>C (n.529+2076G>C) c.*52C>G (n.*52C>G) c.27+2076G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116120021G= | CA1657093141 | COL10A1,NT5DC1 | c.529+2076G= (n.529+2076G=) c.*52C= (n.*52C=) c.27+2076G= | |
6 | g.116120021G>T | CA2680093549 | COL10A1,NT5DC1 | c.529+2076G>T (n.529+2076G>T) c.*52C>A (n.*52C>A) c.27+2076G>T | gnomAD v4 |
6 | g.116120023G>T | CA2680093550 | COL10A1,NT5DC1 | c.529+2078G>T (n.529+2078G>T) c.*50C>A (n.*50C>A) c.27+2078G>T | gnomAD v4 |
6 | g.116120024T>C | CA2712869048 | COL10A1,NT5DC1 | c.529+2079T>C (n.529+2079T>C) c.*49A>G (n.*49A>G) c.27+2079T>C | dbSNP |
6 | g.116120026A>G | CA2520267869 | COL10A1,NT5DC1 | c.529+2081A>G (n.529+2081A>G) c.*47T>C (n.*47T>C) c.27+2081A>G | |
6 | g.116120026A>T | CA2578720565 | COL10A1,NT5DC1 | c.529+2081A>T (n.529+2081A>T) c.*47T>A (n.*47T>A) c.27+2081A>T | |
6 | g.116120029_116120030del | CA2680093551 | COL10A1,NT5DC1 | c.529+2084_529+2085del (n.529+2084_529+2085del) c.*46_*47del (n.*46_*47del) c.27+2084_27+2085del | gnomAD v4 |
6 | g.116120027G>T | CA2680093552 | COL10A1,NT5DC1 | c.529+2082G>T (n.529+2082G>T) c.*46C>A (n.*46C>A) c.27+2082G>T | gnomAD v4 |
6 | g.116120028A>G | CA2553249287 | COL10A1,NT5DC1 | c.529+2083A>G (n.529+2083A>G) c.*45T>C (n.*45T>C) c.27+2083A>G | |
6 | g.116120029G>A | CA3968057 | COL10A1,NT5DC1 | c.529+2084G>A (n.529+2084G>A) c.*44C>T (n.*44C>T) c.27+2084G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120029G= | CA1657093142 | COL10A1,NT5DC1 | c.529+2084G= (n.529+2084G=) c.*44C= (n.*44C=) c.27+2084G= | |
6 | g.116120029G>T | CA2680093553 | COL10A1,NT5DC1 | c.529+2084G>T (n.529+2084G>T) c.*44C>A (n.*44C>A) c.27+2084G>T | gnomAD v4 |
6 | g.116120031del | CA2578720566 | COL10A1,NT5DC1 | c.529+2086del (n.529+2086del) c.*43del (n.*43del) c.27+2086del | |
6 | g.116120031A>C | CA2523679570 | COL10A1,NT5DC1 | c.529+2086A>C (n.529+2086A>C) c.*42T>G (n.*42T>G) c.27+2086A>C | |
6 | g.116120031A>G | CA2680093554 | COL10A1,NT5DC1 | c.529+2086A>G (n.529+2086A>G) c.*42T>C (n.*42T>C) c.27+2086A>G | gnomAD v4 |
6 | g.116120032T>C | CA2578720567 | COL10A1,NT5DC1 | c.529+2087T>C (n.529+2087T>C) c.*41A>G (n.*41A>G) c.27+2087T>C | |
6 | g.116120033G>A | CA2680093555 | COL10A1,NT5DC1 | c.529+2088G>A (n.529+2088G>A) c.*40C>T (n.*40C>T) c.27+2088G>A | gnomAD v4 |
6 | g.116120033G>C | CA3968058 | COL10A1,NT5DC1 | c.529+2088G>C (n.529+2088G>C) c.*40C>G (n.*40C>G) c.27+2088G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120033G= | CA1657093143 | COL10A1,NT5DC1 | c.529+2088G= (n.529+2088G=) c.*40C= (n.*40C=) c.27+2088G= | |
6 | g.116120033G>T | CA2680093556 | COL10A1,NT5DC1 | c.529+2088G>T (n.529+2088G>T) c.*40C>A (n.*40C>A) c.27+2088G>T | gnomAD v4 |
6 | g.116120034C>A | CA2680093557 | COL10A1,NT5DC1 | c.529+2089C>A (n.529+2089C>A) c.*39G>T (n.*39G>T) c.27+2089C>A | gnomAD v4 |
6 | g.116120034C= | CA1657093144 | COL10A1,NT5DC1 | c.529+2089C= (n.529+2089C=) c.*39G= (n.*39G=) c.27+2089C= | |
6 | g.116120034C>G | CA570037687 | COL10A1,NT5DC1 | c.529+2089C>G (n.529+2089C>G) c.*39G>C (n.*39G>C) c.27+2089C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120035T>C | CA2680093558 | COL10A1,NT5DC1 | c.529+2090T>C (n.529+2090T>C) c.*38A>G (n.*38A>G) c.27+2090T>C | gnomAD v4 |
6 | g.116120039dup | CA570037688 | COL10A1,NT5DC1 | c.529+2094dup (n.529+2094dup) c.*38dup (n.*38dup) c.27+2094dup | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120038T>C | CA2680093559 | COL10A1,NT5DC1 | c.529+2093T>C (n.529+2093T>C) c.*35A>G (n.*35A>G) c.27+2093T>C | gnomAD v4 |
6 | g.116120040C= | CA1657093145 | COL10A1,NT5DC1 | c.529+2095C= (n.529+2095C=) c.*33G= (n.*33G=) c.27+2095C= | |
6 | g.116120040C>G | CA145907989 | COL10A1,NT5DC1 | c.529+2095C>G (n.529+2095C>G) c.*33G>C (n.*33G>C) c.27+2095C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116120040C>T | CA1093500479 | COL10A1,NT5DC1 | c.529+2095C>T (n.529+2095C>T) c.*33G>A (n.*33G>A) c.27+2095C>T | gnomAD v3 gnomAD v4 |
6 | g.116120041T>C | CA570037689 | COL10A1,NT5DC1 | c.529+2096T>C (n.529+2096T>C) c.*32A>G (n.*32A>G) c.27+2096T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120041T= | CA1657093146 | COL10A1,NT5DC1 | c.529+2096T= (n.529+2096T=) c.*32A= (n.*32A=) c.27+2096T= | |
6 | g.116120042_116120050del | CA2680093560 | COL10A1,NT5DC1 | c.529+2097_529+2105del (n.529+2097_529+2105del) c.*23_*31del (n.*23_*31del) c.27+2097_27+2105del | gnomAD v4 |
6 | g.116120043G>A | CA2578720568 | COL10A1,NT5DC1 | c.529+2098G>A (n.529+2098G>A) c.*30C>T (n.*30C>T) c.27+2098G>A | gnomAD v4 |
6 | g.116120043G>T | CA2680093561 | COL10A1,NT5DC1 | c.529+2098G>T (n.529+2098G>T) c.*30C>A (n.*30C>A) c.27+2098G>T | gnomAD v4 |
6 | g.116120044C= | CA1657093147 | COL10A1,NT5DC1 | c.529+2099C= (n.529+2099C=) c.*29G= (n.*29G=) c.27+2099C= | |
6 | g.116120044C>T | CA145907995 | COL10A1,NT5DC1 | c.529+2099C>T (n.529+2099C>T) c.*29G>A (n.*29G>A) c.27+2099C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120045A= | CA1657093148 | COL10A1,NT5DC1 | c.529+2100A= (n.529+2100A=) c.*28T= (n.*28T=) c.27+2100A= | |
6 | g.116120045A>G | CA817679518 | COL10A1,NT5DC1 | c.529+2100A>G (n.529+2100A>G) c.*28T>C (n.*28T>C) c.27+2100A>G | dbSNP |
6 | g.116120045_116120046insT | CA2567814908 | COL10A1,NT5DC1 | c.529+2100_529+2101insT (n.529+2100_529+2101insT) c.*27_*28insA (n.*27_*28insA) c.27+2100_27+2101insT | |
6 | g.116120046C>A | CA145908001 | COL10A1,NT5DC1 | c.529+2101C>A (n.529+2101C>A) c.*27G>T (n.*27G>T) c.27+2101C>A | dbSNP |
6 | g.116120046C= | CA1657093149 | COL10A1,NT5DC1 | c.529+2101C= (n.529+2101C=) c.*27G= (n.*27G=) c.27+2101C= | |
6 | g.116120046C>T | CA2680093562 | COL10A1,NT5DC1 | c.529+2101C>T (n.529+2101C>T) c.*27G>A (n.*27G>A) c.27+2101C>T | gnomAD v4 |
6 | g.116120047A= | CA1657093150 | COL10A1,NT5DC1 | c.529+2102A= (n.529+2102A=) c.*26T= (n.*26T=) c.27+2102A= | |
6 | g.116120047A>G | CA1657093151 | COL10A1,NT5DC1 | c.529+2102A>G (n.529+2102A>G) c.*26T>C (n.*26T>C) c.27+2102A>G | dbSNP gnomAD v4 |
6 | g.116120048A>C | CA2680093563 | COL10A1,NT5DC1 | c.529+2103A>C (n.529+2103A>C) c.*25T>G (n.*25T>G) c.27+2103A>C | gnomAD v4 |
6 | g.116120048A>G | CA2680093564 | COL10A1,NT5DC1 | c.529+2103A>G (n.529+2103A>G) c.*25T>C (n.*25T>C) c.27+2103A>G | gnomAD v4 |
6 | g.116120049G>A | CA145908002 | COL10A1,NT5DC1 | c.529+2104G>A (n.529+2104G>A) c.*24C>T (n.*24C>T) c.27+2104G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120049G>C | CA2712804772 | COL10A1,NT5DC1 | c.529+2104G>C (n.529+2104G>C) c.*24C>G (n.*24C>G) c.27+2104G>C | dbSNP |
6 | g.116120049G= | CA1657093152 | COL10A1,NT5DC1 | c.529+2104G= (n.529+2104G=) c.*24C= (n.*24C=) c.27+2104G= | |
6 | g.116120049G>T | CA2680093565 | COL10A1,NT5DC1 | c.529+2104G>T (n.529+2104G>T) c.*24C>A (n.*24C>A) c.27+2104G>T | gnomAD v4 |
6 | g.116120050A>G | CA2772728951 | COL10A1,NT5DC1 | c.529+2105A>G (n.529+2105A>G) c.*23T>C (n.*23T>C) c.27+2105A>G | |
6 | g.116120053del | CA2578720569 | COL10A1,NT5DC1 | c.529+2108del (n.529+2108del) c.*22del (n.*22del) c.27+2108del | gnomAD v4 |
6 | g.116120052T>G | CA1657093153 | COL10A1,NT5DC1 | c.529+2107T>G (n.529+2107T>G) c.*21A>C (n.*21A>C) c.27+2107T>G | dbSNP |
6 | g.116120052T= | CA1657093154 | COL10A1,NT5DC1 | c.529+2107T= (n.529+2107T=) c.*21A= (n.*21A=) c.27+2107T= | |
6 | g.116120054A= | CA1657093155 | COL10A1,NT5DC1 | c.529+2109A= (n.529+2109A=) c.*19T= (n.*19T=) c.27+2109A= | |
6 | g.116120054A>C | CA2680093566 | COL10A1,NT5DC1 | c.529+2109A>C (n.529+2109A>C) c.*19T>G (n.*19T>G) c.27+2109A>C | gnomAD v4 |
6 | g.116120054A>G | CA817679521 | COL10A1,NT5DC1 | c.529+2109A>G (n.529+2109A>G) c.*19T>C (n.*19T>C) c.27+2109A>G | dbSNP gnomAD v4 |
6 | g.116120054A>T | CA2680093567 | COL10A1,NT5DC1 | c.529+2109A>T (n.529+2109A>T) c.*19T>A (n.*19T>A) c.27+2109A>T | gnomAD v4 |
6 | g.116120055G>T | CA2553652677 | COL10A1,NT5DC1 | c.529+2110G>T (n.529+2110G>T) c.*18C>A (n.*18C>A) c.27+2110G>T | gnomAD v4 |
6 | g.116120056A>G | CA2536800599 | COL10A1,NT5DC1 | c.529+2111A>G (n.529+2111A>G) c.*17T>C (n.*17T>C) c.27+2111A>G | gnomAD v4 |
6 | g.116120058T>C | CA2680093568 | COL10A1,NT5DC1 | c.529+2113T>C (n.529+2113T>C) c.*15A>G (n.*15A>G) c.27+2113T>C | gnomAD v4 |
6 | g.116120059_116120060delinsAG | CA1657093156 | COL10A1,NT5DC1 | c.529+2114_529+2115delinsAG (n.529+2114_529+2115delinsAG) c.*13_*14delinsCT (n.*13_*14delinsCT) c.27+2114_27+2115delinsAG | |
6 | g.116120060del | CA3968059 | COL10A1,NT5DC1 | c.529+2115del (n.529+2115del) c.*13del (n.*13del) c.27+2115del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120060G>A | CA570037690 | COL10A1,NT5DC1 | c.529+2115G>A (n.529+2115G>A) c.*13C>T (n.*13C>T) c.27+2115G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120060G= | CA1657093157 | COL10A1,NT5DC1 | c.529+2115G= (n.529+2115G=) c.*13C= (n.*13C=) c.27+2115G= | |
6 | g.116120060G>T | CA2680093569 | COL10A1,NT5DC1 | c.529+2115G>T (n.529+2115G>T) c.*13C>A (n.*13C>A) c.27+2115G>T | gnomAD v4 |
6 | g.116120062T>C | CA3968060 | COL10A1,NT5DC1 | c.529+2117T>C (n.529+2117T>C) c.*11A>G (n.*11A>G) c.27+2117T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120062T= | CA1657093158 | COL10A1,NT5DC1 | c.529+2117T= (n.529+2117T=) c.*11A= (n.*11A=) c.27+2117T= | |
6 | g.116120063C>A | CA2680093570 | COL10A1,NT5DC1 | c.529+2118C>A (n.529+2118C>A) c.*10G>T (n.*10G>T) c.27+2118C>A | gnomAD v4 |
6 | g.116120063C>T | CA2772728952 | COL10A1,NT5DC1 | c.529+2118C>T (n.529+2118C>T) c.*10G>A (n.*10G>A) c.27+2118C>T | |
6 | g.116120064T>G | CA2559059600 | COL10A1,NT5DC1 | c.529+2119T>G (n.529+2119T>G) c.*9A>C (n.*9A>C) c.27+2119T>G | |
6 | g.116120064T= | CA1657093159 | COL10A1,NT5DC1 | c.529+2119T= (n.529+2119T=) c.*9A= (n.*9A=) c.27+2119T= | |
6 | g.116120064_116120065insTTG | CA2680093571 | COL10A1,NT5DC1 | c.529+2119_529+2120insTTG (n.529+2119_529+2120insTTG) c.*8_*9insCAA (n.*8_*9insCAA) c.27+2119_27+2120insTTG | gnomAD v4 |
6 | g.116120065_116120066insGG | CA3968061 | COL10A1,NT5DC1 | c.529+2120_529+2121insGG (n.529+2120_529+2121insGG) c.*8_*9insCC (n.*8_*9insCC) c.27+2120_27+2121insGG | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120065_116120066insGGG | CA145908006 | COL10A1,NT5DC1 | c.529+2120_529+2121insGGG (n.529+2120_529+2121insGGG) c.*8_*9insCCC (n.*8_*9insCCC) c.27+2120_27+2121insGGG | dbSNP |
6 | g.116120065_116120067dup | CA145908005 | COL10A1,NT5DC1 | c.529+2120_529+2122dup (n.529+2120_529+2122dup) c.*6_*8dup (n.*6_*8dup) c.27+2120_27+2122dup | dbSNP gnomAD v4 |
6 | g.116120066T>G | CA3968063 | COL10A1,NT5DC1 | c.529+2121T>G (n.529+2121T>G) c.*7A>C (n.*7A>C) c.27+2121T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120066T= | CA1657093160 | COL10A1,NT5DC1 | c.529+2121T= (n.529+2121T=) c.*7A= (n.*7A=) c.27+2121T= | |
6 | g.116120066_116120067insTGG | CA2680093572 | COL10A1,NT5DC1 | c.529+2121_529+2122insTGG (n.529+2121_529+2122insTGG) c.*6_*7insCCA (n.*6_*7insCCA) c.27+2121_27+2122insTGG | gnomAD v4 |
6 | g.116120067G>A | CA2581596920 | COL10A1,NT5DC1 | c.529+2122G>A (n.529+2122G>A) c.*6C>T (n.*6C>T) c.27+2122G>A | |
6 | g.116120067G>C | CA2581596923 | COL10A1,NT5DC1 | c.529+2122G>C (n.529+2122G>C) c.*6C>G (n.*6C>G) c.27+2122G>C | |
6 | g.116120067G= | CA1657093161 | COL10A1,NT5DC1 | c.529+2122G= (n.529+2122G=) c.*6C= (n.*6C=) c.27+2122G= | |
6 | g.116120067G>T | CA2581596921 | COL10A1,NT5DC1 | c.529+2122G>T (n.529+2122G>T) c.*6C>A (n.*6C>A) c.27+2122G>T | |
6 | g.116120067_116120068insGG | CA2581596922 | COL10A1,NT5DC1 | c.529+2122_529+2123insGG (n.529+2122_529+2123insGG) c.*6_*7insCC (n.*6_*7insCC) c.27+2122_27+2123insGG | dbSNP gnomAD v4 |
6 | g.116120067_116120068insAGG | CA2680093576 | COL10A1,NT5DC1 | c.529+2122_529+2123insAGG (n.529+2122_529+2123insAGG) c.*6_*7insCTC (n.*6_*7insCTC) c.27+2122_27+2123insAGG | gnomAD v4 |
6 | g.116120067_116120068insGAG | CA570037691 | COL10A1,NT5DC1 | c.529+2122_529+2123insGAG (n.529+2122_529+2123insGAG) c.*6_*7insTCC (n.*6_*7insTCC) c.27+2122_27+2123insGAG | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120067_116120068insGGG | CA3968062 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGG (n.529+2122_529+2123insGGG) c.*6_*7insCCC (n.*6_*7insCCC) c.27+2122_27+2123insGGG | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.116120067_116120068insGGGG | CA145908024 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGGG (n.529+2122_529+2123insGGGG) c.*6_*7insCCCC (n.*6_*7insCCCC) c.27+2122_27+2123insGGGG | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116120067_116120068insGGTGGGG | CA2680093574 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGTGGGG (n.529+2122_529+2123insGGTGGGG) c.*6_*7insCCCACCC (n.*6_*7insCCCACCC) c.27+2122_27+2123insGGTGGGG | gnomAD v4 |
6 | g.116120067_116120068insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG | CA917841282 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG (n.529+2122_529+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG) c.*6_*7insCCCACAGAGCTAATCTAAATCTTGTACACCCC (n.*6_*7insCCCACAGAGCTAATCTAAATCTTGTACACCCC) c.27+2122_27+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG | dbSNP |
6 | g.116120067dup | CA2680093575 | COL10A1,NT5DC1 | c.529+2122dup (n.529+2122dup) c.*6dup (n.*6dup) c.27+2122dup | gnomAD v4 |
6 | g.116120067_116120069dup | CA2680093573 | COL10A1,NT5DC1 | c.529+2122_529+2124dup (n.529+2122_529+2124dup) c.*4_*6dup (n.*4_*6dup) c.27+2122_27+2124dup | gnomAD v4 |
6 | g.116120067_116120068insGGA | CA817679548 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGA (n.529+2122_529+2123insGGA) c.*5_*6insTCC (n.*5_*6insTCC) c.27+2122_27+2123insGGA | dbSNP gnomAD v4 |
6 | g.116120067_116120068insGGC | CA3968064 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGC (n.529+2122_529+2123insGGC) c.*5_*6insGCC (n.*5_*6insGCC) c.27+2122_27+2123insGGC | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120067_116120068insGGT | CA145908036 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGT (n.529+2122_529+2123insGGT) c.*5_*6insACC (n.*5_*6insACC) c.27+2122_27+2123insGGT | dbSNP gnomAD v4 |
6 | g.116120068T>A | CA2506346607 | COL10A1,NT5DC1 | c.529+2123T>A (n.529+2123T>A) c.*5A>T (n.*5A>T) c.27+2123T>A | |
6 | g.116120068T>G | CA145908042 | COL10A1,NT5DC1 | c.529+2123T>G (n.529+2123T>G) c.*5A>C (n.*5A>C) c.27+2123T>G | dbSNP gnomAD v4 COSMIC |
6 | g.116120068T= | CA1657093162 | COL10A1,NT5DC1 | c.529+2123T= (n.529+2123T=) c.*5A= (n.*5A=) c.27+2123T= | |
6 | g.116120069G>A | CA3968065 | COL10A1,NT5DC1 | c.529+2124G>A (n.529+2124G>A) c.*4C>T (n.*4C>T) c.27+2124G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120069G= | CA1657093163 | COL10A1,NT5DC1 | c.529+2124G= (n.529+2124G=) c.*4C= (n.*4C=) c.27+2124G= | |
6 | g.116120069G>T | CA2680093577 | COL10A1,NT5DC1 | c.529+2124G>T (n.529+2124G>T) c.*4C>A (n.*4C>A) c.27+2124G>T | gnomAD v4 |