Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.116119999A=CA1657093121COL10A1,NT5DC1c.529+2054A= (n.529+2054A=)
c.*74T= (n.*74T=)
c.27+2054A=
6g.116119999A>GCA817679474COL10A1,NT5DC1c.529+2054A>G (n.529+2054A>G)
c.*74T>C (n.*74T>C)
c.27+2054A>G
 dbSNP
6g.116120001G>ACA2680093538COL10A1,NT5DC1c.529+2056G>A (n.529+2056G>A)
c.*72C>T (n.*72C>T)
c.27+2056G>A
 gnomAD v4
6g.116120001G>TCA2578720560COL10A1,NT5DC1c.529+2056G>T (n.529+2056G>T)
c.*72C>A (n.*72C>A)
c.27+2056G>T
 gnomAD v4
6g.116120003A=CA1657093122COL10A1,NT5DC1c.529+2058A= (n.529+2058A=)
c.*70T= (n.*70T=)
c.27+2058A=
6g.116120003A>CCA2680093539COL10A1,NT5DC1c.529+2058A>C (n.529+2058A>C)
c.*70T>G (n.*70T>G)
c.27+2058A>C
 gnomAD v4
6g.116120003A>GCA1657093123COL10A1,NT5DC1c.529+2058A>G (n.529+2058A>G)
c.*70T>C (n.*70T>C)
c.27+2058A>G
 dbSNP
6g.116120004T>GCA2680093540COL10A1,NT5DC1c.529+2059T>G (n.529+2059T>G)
c.*69A>C (n.*69A>C)
c.27+2059T>G
 gnomAD v4
6g.116120005T>GCA2680093541COL10A1,NT5DC1c.529+2060T>G (n.529+2060T>G)
c.*68A>C (n.*68A>C)
c.27+2060T>G
 gnomAD v4
6g.116120006T>CCA2680093542COL10A1,NT5DC1c.529+2061T>C (n.529+2061T>C)
c.*67A>G (n.*67A>G)
c.27+2061T>C
 gnomAD v4
6g.116120007T>GCA2712868940COL10A1,NT5DC1c.529+2062T>G (n.529+2062T>G)
c.*66A>C (n.*66A>C)
c.27+2062T>G
 dbSNP
6g.116120008G>ACA1657093125COL10A1,NT5DC1c.529+2063G>A (n.529+2063G>A)
c.*65C>T (n.*65C>T)
c.27+2063G>A
 dbSNP
6g.116120008G>CCA145907950COL10A1,NT5DC1c.529+2063G>C (n.529+2063G>C)
c.*65C>G (n.*65C>G)
c.27+2063G>C
 dbSNP
6g.116120008G=CA1657093124COL10A1,NT5DC1c.529+2063G= (n.529+2063G=)
c.*65C= (n.*65C=)
c.27+2063G=
6g.116120008G>TCA2680093543COL10A1,NT5DC1c.529+2063G>T (n.529+2063G>T)
c.*65C>A (n.*65C>A)
c.27+2063G>T
 gnomAD v4
6g.116120010A>GCA2680093544COL10A1,NT5DC1c.529+2065A>G (n.529+2065A>G)
c.*63T>C (n.*63T>C)
c.27+2065A>G
 gnomAD v4
6g.116120011G>CCA2578720561COL10A1,NT5DC1c.529+2066G>C (n.529+2066G>C)
c.*62C>G (n.*62C>G)
c.27+2066G>C
 gnomAD v4
6g.116120011G=CA1657093126COL10A1,NT5DC1c.529+2066G= (n.529+2066G=)
c.*62C= (n.*62C=)
c.27+2066G=
6g.116120011G>TCA569681634COL10A1,NT5DC1c.529+2066G>T (n.529+2066G>T)
c.*62C>A (n.*62C>A)
c.27+2066G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120012G>CCA817679479COL10A1,NT5DC1c.529+2067G>C (n.529+2067G>C)
c.*61C>G (n.*61C>G)
c.27+2067G>C
 dbSNP gnomAD v3 gnomAD v4
6g.116120012G=CA1657093127COL10A1,NT5DC1c.529+2067G= (n.529+2067G=)
c.*61C= (n.*61C=)
c.27+2067G=
6g.116120012G>TCA2680093545COL10A1,NT5DC1c.529+2067G>T (n.529+2067G>T)
c.*61C>A (n.*61C>A)
c.27+2067G>T
 gnomAD v4
6g.116120013G>ACA2578720562COL10A1,NT5DC1c.529+2068G>A (n.529+2068G>A)
c.*60C>T (n.*60C>T)
c.27+2068G>A
 gnomAD v4
6g.116120013G>CCA145907959COL10A1,NT5DC1c.529+2068G>C (n.529+2068G>C)
c.*60C>G (n.*60C>G)
c.27+2068G>C
 dbSNP gnomAD v3 gnomAD v4
6g.116120013G=CA1657093128COL10A1,NT5DC1c.529+2068G= (n.529+2068G=)
c.*60C= (n.*60C=)
c.27+2068G=
6g.116120013G>TCA2680093546COL10A1,NT5DC1c.529+2068G>T (n.529+2068G>T)
c.*60C>A (n.*60C>A)
c.27+2068G>T
 gnomAD v4
6g.116120014T>GCA145907964COL10A1,NT5DC1c.529+2069T>G (n.529+2069T>G)
c.*59A>C (n.*59A>C)
c.27+2069T>G
 dbSNP gnomAD v4
6g.116120014T=CA1657093129COL10A1,NT5DC1c.529+2069T= (n.529+2069T=)
c.*59A= (n.*59A=)
c.27+2069T=
6g.116120015G>ACA1657093131COL10A1,NT5DC1c.529+2070G>A (n.529+2070G>A)
c.*58C>T (n.*58C>T)
c.27+2070G>A
 dbSNP gnomAD v4
6g.116120015G=CA1657093130COL10A1,NT5DC1c.529+2070G= (n.529+2070G=)
c.*58C= (n.*58C=)
c.27+2070G=
6g.116120015G>TCA2680093547COL10A1,NT5DC1c.529+2070G>T (n.529+2070G>T)
c.*58C>A (n.*58C>A)
c.27+2070G>T
 gnomAD v4
6g.116120018delCA2578720563COL10A1,NT5DC1c.529+2073del (n.529+2073del)
c.*58del (n.*58del)
c.27+2073del
6g.116120016G>ACA2680093548COL10A1,NT5DC1c.529+2071G>A (n.529+2071G>A)
c.*57C>T (n.*57C>T)
c.27+2071G>A
 gnomAD v4
6g.116120016G>CCA1657093133COL10A1,NT5DC1c.529+2071G>C (n.529+2071G>C)
c.*57C>G (n.*57C>G)
c.27+2071G>C
 dbSNP
6g.116120016G=CA1657093132COL10A1,NT5DC1c.529+2071G= (n.529+2071G=)
c.*57C= (n.*57C=)
c.27+2071G=
6g.116120016G>TCA2578720564COL10A1,NT5DC1c.529+2071G>T (n.529+2071G>T)
c.*57C>A (n.*57C>A)
c.27+2071G>T
 gnomAD v4
6g.116120017G=CA1657093134COL10A1,NT5DC1c.529+2072G= (n.529+2072G=)
c.*56C= (n.*56C=)
c.27+2072G=
6g.116120017G>TCA1657093135COL10A1,NT5DC1c.529+2072G>T (n.529+2072G>T)
c.*56C>A (n.*56C>A)
c.27+2072G>T
 dbSNP gnomAD v4
6g.116120018G>ACA2516849095COL10A1,NT5DC1c.529+2073G>A (n.529+2073G>A)
c.*55C>T (n.*55C>T)
c.27+2073G>A
 gnomAD v4
6g.116120018G=CA1657093137COL10A1,NT5DC1c.529+2073G= (n.529+2073G=)
c.*55C= (n.*55C=)
c.27+2073G=
6g.116120018G>TCA1657093136COL10A1,NT5DC1c.529+2073G>T (n.529+2073G>T)
c.*55C>A (n.*55C>A)
c.27+2073G>T
 dbSNP gnomAD v4
6g.116120019T>CCA817679482COL10A1,NT5DC1c.529+2074T>C (n.529+2074T>C)
c.*54A>G (n.*54A>G)
c.27+2074T>C
 dbSNP
6g.116120019T=CA1657093138COL10A1,NT5DC1c.529+2074T= (n.529+2074T=)
c.*54A= (n.*54A=)
c.27+2074T=
6g.116120020A=CA1657093139COL10A1,NT5DC1c.529+2075A= (n.529+2075A=)
c.*53T= (n.*53T=)
c.27+2075A=
6g.116120020A>GCA1657093140COL10A1,NT5DC1c.529+2075A>G (n.529+2075A>G)
c.*53T>C (n.*53T>C)
c.27+2075A>G
 dbSNP gnomAD v4
6g.116120021G>ACA817679483COL10A1,NT5DC1c.529+2076G>A (n.529+2076G>A)
c.*52C>T (n.*52C>T)
c.27+2076G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.116120021G>CCA1093500473COL10A1,NT5DC1c.529+2076G>C (n.529+2076G>C)
c.*52C>G (n.*52C>G)
c.27+2076G>C
 dbSNP gnomAD v3 gnomAD v4
6g.116120021G=CA1657093141COL10A1,NT5DC1c.529+2076G= (n.529+2076G=)
c.*52C= (n.*52C=)
c.27+2076G=
6g.116120021G>TCA2680093549COL10A1,NT5DC1c.529+2076G>T (n.529+2076G>T)
c.*52C>A (n.*52C>A)
c.27+2076G>T
 gnomAD v4
6g.116120023G>TCA2680093550COL10A1,NT5DC1c.529+2078G>T (n.529+2078G>T)
c.*50C>A (n.*50C>A)
c.27+2078G>T
 gnomAD v4
6g.116120024T>CCA2712869048COL10A1,NT5DC1c.529+2079T>C (n.529+2079T>C)
c.*49A>G (n.*49A>G)
c.27+2079T>C
 dbSNP
6g.116120026A>GCA2520267869COL10A1,NT5DC1c.529+2081A>G (n.529+2081A>G)
c.*47T>C (n.*47T>C)
c.27+2081A>G
6g.116120026A>TCA2578720565COL10A1,NT5DC1c.529+2081A>T (n.529+2081A>T)
c.*47T>A (n.*47T>A)
c.27+2081A>T
6g.116120029_116120030delCA2680093551COL10A1,NT5DC1c.529+2084_529+2085del (n.529+2084_529+2085del)
c.*46_*47del (n.*46_*47del)
c.27+2084_27+2085del
 gnomAD v4
6g.116120027G>TCA2680093552COL10A1,NT5DC1c.529+2082G>T (n.529+2082G>T)
c.*46C>A (n.*46C>A)
c.27+2082G>T
 gnomAD v4
6g.116120028A>GCA2553249287COL10A1,NT5DC1c.529+2083A>G (n.529+2083A>G)
c.*45T>C (n.*45T>C)
c.27+2083A>G
6g.116120029G>ACA3968057COL10A1,NT5DC1c.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
6g.116120029G=CA1657093142COL10A1,NT5DC1c.529+2084G= (n.529+2084G=)
c.*44C= (n.*44C=)
c.27+2084G=
6g.116120029G>TCA2680093553COL10A1,NT5DC1c.529+2084G>T (n.529+2084G>T)
c.*44C>A (n.*44C>A)
c.27+2084G>T
 gnomAD v4
6g.116120031delCA2578720566COL10A1,NT5DC1c.529+2086del (n.529+2086del)
c.*43del (n.*43del)
c.27+2086del
6g.116120031A>CCA2523679570COL10A1,NT5DC1c.529+2086A>C (n.529+2086A>C)
c.*42T>G (n.*42T>G)
c.27+2086A>C
6g.116120031A>GCA2680093554COL10A1,NT5DC1c.529+2086A>G (n.529+2086A>G)
c.*42T>C (n.*42T>C)
c.27+2086A>G
 gnomAD v4
6g.116120032T>CCA2578720567COL10A1,NT5DC1c.529+2087T>C (n.529+2087T>C)
c.*41A>G (n.*41A>G)
c.27+2087T>C
6g.116120033G>ACA2680093555COL10A1,NT5DC1c.529+2088G>A (n.529+2088G>A)
c.*40C>T (n.*40C>T)
c.27+2088G>A
 gnomAD v4
6g.116120033G>CCA3968058COL10A1,NT5DC1c.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
6g.116120033G=CA1657093143COL10A1,NT5DC1c.529+2088G= (n.529+2088G=)
c.*40C= (n.*40C=)
c.27+2088G=
6g.116120033G>TCA2680093556COL10A1,NT5DC1c.529+2088G>T (n.529+2088G>T)
c.*40C>A (n.*40C>A)
c.27+2088G>T
 gnomAD v4
6g.116120034C>ACA2680093557COL10A1,NT5DC1c.529+2089C>A (n.529+2089C>A)
c.*39G>T (n.*39G>T)
c.27+2089C>A
 gnomAD v4
6g.116120034C=CA1657093144COL10A1,NT5DC1c.529+2089C= (n.529+2089C=)
c.*39G= (n.*39G=)
c.27+2089C=
6g.116120034C>GCA570037687COL10A1,NT5DC1c.529+2089C>G (n.529+2089C>G)
c.*39G>C (n.*39G>C)
c.27+2089C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120035T>CCA2680093558COL10A1,NT5DC1c.529+2090T>C (n.529+2090T>C)
c.*38A>G (n.*38A>G)
c.27+2090T>C
 gnomAD v4
6g.116120039dupCA570037688COL10A1,NT5DC1c.529+2094dup (n.529+2094dup)
c.*38dup (n.*38dup)
c.27+2094dup
 dbSNP gnomAD v2 gnomAD v4
6g.116120038T>CCA2680093559COL10A1,NT5DC1c.529+2093T>C (n.529+2093T>C)
c.*35A>G (n.*35A>G)
c.27+2093T>C
 gnomAD v4
6g.116120040C=CA1657093145COL10A1,NT5DC1c.529+2095C= (n.529+2095C=)
c.*33G= (n.*33G=)
c.27+2095C=
6g.116120040C>GCA145907989COL10A1,NT5DC1c.529+2095C>G (n.529+2095C>G)
c.*33G>C (n.*33G>C)
c.27+2095C>G
 dbSNP gnomAD v3 gnomAD v4
6g.116120040C>TCA1093500479COL10A1,NT5DC1c.529+2095C>T (n.529+2095C>T)
c.*33G>A (n.*33G>A)
c.27+2095C>T
 gnomAD v3 gnomAD v4
6g.116120041T>CCA570037689COL10A1,NT5DC1c.529+2096T>C (n.529+2096T>C)
c.*32A>G (n.*32A>G)
c.27+2096T>C
 dbSNP gnomAD v2 gnomAD v4
6g.116120041T=CA1657093146COL10A1,NT5DC1c.529+2096T= (n.529+2096T=)
c.*32A= (n.*32A=)
c.27+2096T=
6g.116120042_116120050delCA2680093560COL10A1,NT5DC1c.529+2097_529+2105del (n.529+2097_529+2105del)
c.*23_*31del (n.*23_*31del)
c.27+2097_27+2105del
 gnomAD v4
6g.116120043G>ACA2578720568COL10A1,NT5DC1c.529+2098G>A (n.529+2098G>A)
c.*30C>T (n.*30C>T)
c.27+2098G>A
 gnomAD v4
6g.116120043G>TCA2680093561COL10A1,NT5DC1c.529+2098G>T (n.529+2098G>T)
c.*30C>A (n.*30C>A)
c.27+2098G>T
 gnomAD v4
6g.116120044C=CA1657093147COL10A1,NT5DC1c.529+2099C= (n.529+2099C=)
c.*29G= (n.*29G=)
c.27+2099C=
6g.116120044C>TCA145907995COL10A1,NT5DC1c.529+2099C>T (n.529+2099C>T)
c.*29G>A (n.*29G>A)
c.27+2099C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120045A=CA1657093148COL10A1,NT5DC1c.529+2100A= (n.529+2100A=)
c.*28T= (n.*28T=)
c.27+2100A=
6g.116120045A>GCA817679518COL10A1,NT5DC1c.529+2100A>G (n.529+2100A>G)
c.*28T>C (n.*28T>C)
c.27+2100A>G
 dbSNP
6g.116120045_116120046insTCA2567814908COL10A1,NT5DC1c.529+2100_529+2101insT (n.529+2100_529+2101insT)
c.*27_*28insA (n.*27_*28insA)
c.27+2100_27+2101insT
6g.116120046C>ACA145908001COL10A1,NT5DC1c.529+2101C>A (n.529+2101C>A)
c.*27G>T (n.*27G>T)
c.27+2101C>A
 dbSNP
6g.116120046C=CA1657093149COL10A1,NT5DC1c.529+2101C= (n.529+2101C=)
c.*27G= (n.*27G=)
c.27+2101C=
6g.116120046C>TCA2680093562COL10A1,NT5DC1c.529+2101C>T (n.529+2101C>T)
c.*27G>A (n.*27G>A)
c.27+2101C>T
 gnomAD v4
6g.116120047A=CA1657093150COL10A1,NT5DC1c.529+2102A= (n.529+2102A=)
c.*26T= (n.*26T=)
c.27+2102A=
6g.116120047A>GCA1657093151COL10A1,NT5DC1c.529+2102A>G (n.529+2102A>G)
c.*26T>C (n.*26T>C)
c.27+2102A>G
 dbSNP gnomAD v4
6g.116120048A>CCA2680093563COL10A1,NT5DC1c.529+2103A>C (n.529+2103A>C)
c.*25T>G (n.*25T>G)
c.27+2103A>C
 gnomAD v4
6g.116120048A>GCA2680093564COL10A1,NT5DC1c.529+2103A>G (n.529+2103A>G)
c.*25T>C (n.*25T>C)
c.27+2103A>G
 gnomAD v4
6g.116120049G>ACA145908002COL10A1,NT5DC1c.529+2104G>A (n.529+2104G>A)
c.*24C>T (n.*24C>T)
c.27+2104G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120049G>CCA2712804772COL10A1,NT5DC1c.529+2104G>C (n.529+2104G>C)
c.*24C>G (n.*24C>G)
c.27+2104G>C
 dbSNP
6g.116120049G=CA1657093152COL10A1,NT5DC1c.529+2104G= (n.529+2104G=)
c.*24C= (n.*24C=)
c.27+2104G=
6g.116120049G>TCA2680093565COL10A1,NT5DC1c.529+2104G>T (n.529+2104G>T)
c.*24C>A (n.*24C>A)
c.27+2104G>T
 gnomAD v4
6g.116120050A>GCA2772728951COL10A1,NT5DC1c.529+2105A>G (n.529+2105A>G)
c.*23T>C (n.*23T>C)
c.27+2105A>G
6g.116120053delCA2578720569COL10A1,NT5DC1c.529+2108del (n.529+2108del)
c.*22del (n.*22del)
c.27+2108del
 gnomAD v4
6g.116120052T>GCA1657093153COL10A1,NT5DC1c.529+2107T>G (n.529+2107T>G)
c.*21A>C (n.*21A>C)
c.27+2107T>G
 dbSNP
6g.116120052T=CA1657093154COL10A1,NT5DC1c.529+2107T= (n.529+2107T=)
c.*21A= (n.*21A=)
c.27+2107T=
6g.116120054A=CA1657093155COL10A1,NT5DC1c.529+2109A= (n.529+2109A=)
c.*19T= (n.*19T=)
c.27+2109A=
6g.116120054A>CCA2680093566COL10A1,NT5DC1c.529+2109A>C (n.529+2109A>C)
c.*19T>G (n.*19T>G)
c.27+2109A>C
 gnomAD v4
6g.116120054A>GCA817679521COL10A1,NT5DC1c.529+2109A>G (n.529+2109A>G)
c.*19T>C (n.*19T>C)
c.27+2109A>G
 dbSNP gnomAD v4
6g.116120054A>TCA2680093567COL10A1,NT5DC1c.529+2109A>T (n.529+2109A>T)
c.*19T>A (n.*19T>A)
c.27+2109A>T
 gnomAD v4
6g.116120055G>TCA2553652677COL10A1,NT5DC1c.529+2110G>T (n.529+2110G>T)
c.*18C>A (n.*18C>A)
c.27+2110G>T
 gnomAD v4
6g.116120056A>GCA2536800599COL10A1,NT5DC1c.529+2111A>G (n.529+2111A>G)
c.*17T>C (n.*17T>C)
c.27+2111A>G
 gnomAD v4
6g.116120058T>CCA2680093568COL10A1,NT5DC1c.529+2113T>C (n.529+2113T>C)
c.*15A>G (n.*15A>G)
c.27+2113T>C
 gnomAD v4
6g.116120059_116120060delinsAGCA1657093156COL10A1,NT5DC1c.529+2114_529+2115delinsAG (n.529+2114_529+2115delinsAG)
c.*13_*14delinsCT (n.*13_*14delinsCT)
c.27+2114_27+2115delinsAG
6g.116120060delCA3968059COL10A1,NT5DC1c.529+2115del (n.529+2115del)
c.*13del (n.*13del)
c.27+2115del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120060G>ACA570037690COL10A1,NT5DC1c.529+2115G>A (n.529+2115G>A)
c.*13C>T (n.*13C>T)
c.27+2115G>A
 dbSNP gnomAD v2 gnomAD v4
6g.116120060G=CA1657093157COL10A1,NT5DC1c.529+2115G= (n.529+2115G=)
c.*13C= (n.*13C=)
c.27+2115G=
6g.116120060G>TCA2680093569COL10A1,NT5DC1c.529+2115G>T (n.529+2115G>T)
c.*13C>A (n.*13C>A)
c.27+2115G>T
 gnomAD v4
6g.116120062T>CCA3968060COL10A1,NT5DC1c.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
6g.116120062T=CA1657093158COL10A1,NT5DC1c.529+2117T= (n.529+2117T=)
c.*11A= (n.*11A=)
c.27+2117T=
6g.116120063C>ACA2680093570COL10A1,NT5DC1c.529+2118C>A (n.529+2118C>A)
c.*10G>T (n.*10G>T)
c.27+2118C>A
 gnomAD v4
6g.116120063C>TCA2772728952COL10A1,NT5DC1c.529+2118C>T (n.529+2118C>T)
c.*10G>A (n.*10G>A)
c.27+2118C>T
6g.116120064T>GCA2559059600COL10A1,NT5DC1c.529+2119T>G (n.529+2119T>G)
c.*9A>C (n.*9A>C)
c.27+2119T>G
6g.116120064T=CA1657093159COL10A1,NT5DC1c.529+2119T= (n.529+2119T=)
c.*9A= (n.*9A=)
c.27+2119T=
6g.116120064_116120065insTTGCA2680093571COL10A1,NT5DC1c.529+2119_529+2120insTTG (n.529+2119_529+2120insTTG)
c.*8_*9insCAA (n.*8_*9insCAA)
c.27+2119_27+2120insTTG
 gnomAD v4
6g.116120065_116120066insGGCA3968061COL10A1,NT5DC1c.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
6g.116120065_116120066insGGGCA145908006COL10A1,NT5DC1c.529+2120_529+2121insGGG (n.529+2120_529+2121insGGG)
c.*8_*9insCCC (n.*8_*9insCCC)
c.27+2120_27+2121insGGG
 dbSNP
6g.116120065_116120067dupCA145908005COL10A1,NT5DC1c.529+2120_529+2122dup (n.529+2120_529+2122dup)
c.*6_*8dup (n.*6_*8dup)
c.27+2120_27+2122dup
 dbSNP gnomAD v4
6g.116120066T>GCA3968063COL10A1,NT5DC1c.529+2121T>G (n.529+2121T>G)
c.*7A>C (n.*7A>C)
c.27+2121T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120066T=CA1657093160COL10A1,NT5DC1c.529+2121T= (n.529+2121T=)
c.*7A= (n.*7A=)
c.27+2121T=
6g.116120066_116120067insTGGCA2680093572COL10A1,NT5DC1c.529+2121_529+2122insTGG (n.529+2121_529+2122insTGG)
c.*6_*7insCCA (n.*6_*7insCCA)
c.27+2121_27+2122insTGG
 gnomAD v4
6g.116120067G>ACA2581596920COL10A1,NT5DC1c.529+2122G>A (n.529+2122G>A)
c.*6C>T (n.*6C>T)
c.27+2122G>A
6g.116120067G>CCA2581596923COL10A1,NT5DC1c.529+2122G>C (n.529+2122G>C)
c.*6C>G (n.*6C>G)
c.27+2122G>C
6g.116120067G=CA1657093161COL10A1,NT5DC1c.529+2122G= (n.529+2122G=)
c.*6C= (n.*6C=)
c.27+2122G=
6g.116120067G>TCA2581596921COL10A1,NT5DC1c.529+2122G>T (n.529+2122G>T)
c.*6C>A (n.*6C>A)
c.27+2122G>T
6g.116120067_116120068insGGCA2581596922COL10A1,NT5DC1c.529+2122_529+2123insGG (n.529+2122_529+2123insGG)
c.*6_*7insCC (n.*6_*7insCC)
c.27+2122_27+2123insGG
 dbSNP gnomAD v4
6g.116120067_116120068insAGGCA2680093576COL10A1,NT5DC1c.529+2122_529+2123insAGG (n.529+2122_529+2123insAGG)
c.*6_*7insCTC (n.*6_*7insCTC)
c.27+2122_27+2123insAGG
 gnomAD v4
6g.116120067_116120068insGAGCA570037691COL10A1,NT5DC1c.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
6g.116120067_116120068insGGGCA3968062COL10A1,NT5DC1c.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
6g.116120067_116120068insGGGGCA145908024COL10A1,NT5DC1c.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
6g.116120067_116120068insGGTGGGGCA2680093574COL10A1,NT5DC1c.529+2122_529+2123insGGTGGGG (n.529+2122_529+2123insGGTGGGG)
c.*6_*7insCCCACCC (n.*6_*7insCCCACCC)
c.27+2122_27+2123insGGTGGGG
 gnomAD v4
6g.116120067_116120068insGGGTGTACAAGATTTAGATTAGCTCTGTGGGGCA917841282COL10A1,NT5DC1c.529+2122_529+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG (n.529+2122_529+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG)
c.*6_*7insCCCACAGAGCTAATCTAAATCTTGTACACCCC (n.*6_*7insCCCACAGAGCTAATCTAAATCTTGTACACCCC)
c.27+2122_27+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG
 dbSNP
6g.116120067dupCA2680093575COL10A1,NT5DC1c.529+2122dup (n.529+2122dup)
c.*6dup (n.*6dup)
c.27+2122dup
 gnomAD v4
6g.116120067_116120069dupCA2680093573COL10A1,NT5DC1c.529+2122_529+2124dup (n.529+2122_529+2124dup)
c.*4_*6dup (n.*4_*6dup)
c.27+2122_27+2124dup
 gnomAD v4
6g.116120067_116120068insGGACA817679548COL10A1,NT5DC1c.529+2122_529+2123insGGA (n.529+2122_529+2123insGGA)
c.*5_*6insTCC (n.*5_*6insTCC)
c.27+2122_27+2123insGGA
 dbSNP gnomAD v4
6g.116120067_116120068insGGCCA3968064COL10A1,NT5DC1c.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
6g.116120067_116120068insGGTCA145908036COL10A1,NT5DC1c.529+2122_529+2123insGGT (n.529+2122_529+2123insGGT)
c.*5_*6insACC (n.*5_*6insACC)
c.27+2122_27+2123insGGT
 dbSNP gnomAD v4
6g.116120068T>ACA2506346607COL10A1,NT5DC1c.529+2123T>A (n.529+2123T>A)
c.*5A>T (n.*5A>T)
c.27+2123T>A
6g.116120068T>GCA145908042COL10A1,NT5DC1c.529+2123T>G (n.529+2123T>G)
c.*5A>C (n.*5A>C)
c.27+2123T>G
 dbSNP gnomAD v4 COSMIC
6g.116120068T=CA1657093162COL10A1,NT5DC1c.529+2123T= (n.529+2123T=)
c.*5A= (n.*5A=)
c.27+2123T=
6g.116120069G>ACA3968065COL10A1,NT5DC1c.529+2124G>A (n.529+2124G>A)
c.*4C>T (n.*4C>T)
c.27+2124G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120069G=CA1657093163COL10A1,NT5DC1c.529+2124G= (n.529+2124G=)
c.*4C= (n.*4C=)
c.27+2124G=
6g.116120069G>TCA2680093577COL10A1,NT5DC1c.529+2124G>T (n.529+2124G>T)
c.*4C>A (n.*4C>A)
c.27+2124G>T
 gnomAD v4
6g.116120071A=CA1657093164COL10A1,NT5DC1c.529+2126A= (n.529+2126A=)
c.*2T= (n.*2T=)
c.27+2126A=
6g.116120071A>GCA817679561COL10A1,NT5DC1c.529+2126A>G (n.529+2126A>G)
c.*2T>C (n.*2T>C)
c.27+2126A>G
 dbSNP gnomAD v4
6g.116120071_116120072insTGCA2547297765COL10A1,NT5DC1c.529+2126_529+2127insTG (n.529+2126_529+2127insTG)
c.*1_*2insCA (n.*1_*2insCA)
c.27+2126_27+2127insTG
6g.116120072C>TCA2680093578COL10A1,NT5DC1c.529+2127C>T (n.529+2127C>T)
c.*1G>A (n.*1G>A)
c.27+2127C>T
 gnomAD v4
6g.116120073T>ACA365386143COL10A1,NT5DC1c.529+2128T>A (n.529+2128T>A)
c.2043A>T (p.Ter681Cys)
c.27+2128T>A
6g.116120073T>CCA365386144COL10A1,NT5DC1c.529+2128T>C (n.529+2128T>C)
c.2043A>G (p.Ter681Trp)
c.27+2128T>C
6g.116120073T>GCA365386145COL10A1,NT5DC1c.529+2128T>G (n.529+2128T>G)
c.2043A>C (p.Ter681Cys)
c.27+2128T>G
6g.116120074C>ACA365386146COL10A1,NT5DC1c.529+2129C>A (n.529+2129C>A)
c.2042G>T (p.Ter681Leu)
c.27+2129C>A
6g.116120074C>GCA365386147COL10A1,NT5DC1c.529+2129C>G (n.529+2129C>G)
c.2042G>C (p.Ter681Ser)
c.27+2129C>G
 gnomAD v4
6g.116120074C>TCA451899322COL10A1,NT5DC1c.529+2129C>T (n.529+2129C>T)
c.2042G>A (p.Ter681=)
c.27+2129C>T
6g.116120075A=CA1657093165COL10A1,NT5DC1c.529+2130A= (n.529+2130A=)
c.2041T= (p.Ter681=)
c.27+2130A=
6g.116120075A>CCA365386148COL10A1,NT5DC1c.529+2130A>C (n.529+2130A>C)
c.2041T>G (p.Ter681Gly)
c.27+2130A>C
6g.116120075A>GCA365386149COL10A1,NT5DC1c.529+2130A>G (n.529+2130A>G)
c.2041T>C (p.Ter681Arg)
c.27+2130A>G
 dbSNP
6g.116120075A>TCA365386150COL10A1,NT5DC1c.529+2130A>T (n.529+2130A>T)
c.2041T>A (p.Ter681Arg)
c.27+2130A>T
6g.116120076C>ACA365386151COL10A1,NT5DC1c.529+2131C>A (n.529+2131C>A)
c.2040G>T (p.Met680Ile)
c.27+2131C>A
6g.116120076C=CA1657093166COL10A1,NT5DC1c.529+2131C= (n.529+2131C=)
c.2040G= (p.Met680=)
c.27+2131C=
6g.116120076C>GCA3968066COL10A1,NT5DC1c.529+2131C>G (n.529+2131C>G)
c.2040G>C (p.Met680Ile)
c.27+2131C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120076C>TCA365386152COL10A1,NT5DC1c.529+2131C>T (n.529+2131C>T)
c.2040G>A (p.Met680Ile)
c.27+2131C>T
6g.116120077A=CA1657093167COL10A1,NT5DC1c.529+2132A= (n.529+2132A=)
c.2039T= (p.Met680=)
c.27+2132A=
6g.116120077A>CCA365386154COL10A1,NT5DC1c.529+2132A>C (n.529+2132A>C)
c.2039T>G (p.Met680Arg)
c.27+2132A>C
6g.116120077A>GCA365386153COL10A1,NT5DC1c.529+2132A>G (n.529+2132A>G)
c.2039T>C (p.Met680Thr)
c.27+2132A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120077A>TCA3968067COL10A1,NT5DC1c.529+2132A>T (n.529+2132A>T)
c.2039T>A (p.Met680Lys)
c.27+2132A>T
 ClinVar dbSNP ExAC gnomAD v2
6g.116120078T>ACA365386155COL10A1,NT5DC1c.529+2133T>A (n.529+2133T>A)
c.2038A>T (p.Met680Leu)
c.27+2133T>A
6g.116120078T>CCA3968068COL10A1,NT5DC1c.529+2133T>C (n.529+2133T>C)
c.2038A>G (p.Met680Val)
c.27+2133T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120078T>GCA365386156COL10A1,NT5DC1c.529+2133T>G (n.529+2133T>G)
c.2038A>C (p.Met680Leu)
c.27+2133T>G
6g.116120078T=CA1657093168COL10A1,NT5DC1c.529+2133T= (n.529+2133T=)
c.2038A= (p.Met680=)
c.27+2133T=
6g.116120079T>ACA451899323COL10A1,NT5DC1c.529+2134T>A (n.529+2134T>A)
c.2037A>T (p.Pro679=)
c.27+2134T>A
 gnomAD v4
6g.116120079T>CCA451899324COL10A1,NT5DC1c.529+2134T>C (n.529+2134T>C)
c.2037A>G (p.Pro679=)
c.27+2134T>C
6g.116120079T>GCA3968069COL10A1,NT5DC1c.529+2134T>G (n.529+2134T>G)
c.2037A>C (p.Pro679=)
c.27+2134T>G
 dbSNP ExAC gnomAD v2
6g.116120079T=CA1657093169COL10A1,NT5DC1c.529+2134T= (n.529+2134T=)
c.2037A= (p.Pro679=)
c.27+2134T=
6g.116120088_116120166dupCA2680093579COL10A1,NT5DC1c.529+2143_529+2221dup (n.529+2143_529+2221dup)
c.1959_2037dup (p.Met680AlafsTer13)
c.27+2143_27+2221dup
 gnomAD v4
6g.116120080G>ACA365386159COL10A1,NT5DC1c.529+2135G>A (n.529+2135G>A)
c.2036C>T (p.Pro679Leu)
c.27+2135G>A
6g.116120080G>CCA365386157COL10A1,NT5DC1c.529+2135G>C (n.529+2135G>C)
c.2036C>G (p.Pro679Arg)
c.27+2135G>C
6g.116120080G>TCA365386158COL10A1,NT5DC1c.529+2135G>T (n.529+2135G>T)
c.2036C>A (p.Pro679Gln)
c.27+2135G>T
6g.116120081G>ACA365386160COL10A1,NT5DC1c.529+2136G>A (n.529+2136G>A)
c.2035C>T (p.Pro679Ser)
c.27+2136G>A
 gnomAD v4
6g.116120081G>CCA365386161COL10A1,NT5DC1c.529+2136G>C (n.529+2136G>C)
c.2035C>G (p.Pro679Ala)
c.27+2136G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120081G=CA1657093170COL10A1,NT5DC1c.529+2136G= (n.529+2136G=)
c.2035C= (p.Pro679=)
c.27+2136G=
6g.116120081G>TCA3968070COL10A1,NT5DC1c.529+2136G>T (n.529+2136G>T)
c.2035C>A (p.Pro679Thr)
c.27+2136G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120082A>CCA451899325COL10A1,NT5DC1c.529+2137A>C (n.529+2137A>C)
c.2034T>G (p.Ala678=)
c.27+2137A>C
6g.116120082A>GCA451899326COL10A1,NT5DC1c.529+2137A>G (n.529+2137A>G)
c.2034T>C (p.Ala678=)
c.27+2137A>G
6g.116120082A>TCA451899327COL10A1,NT5DC1c.529+2137A>T (n.529+2137A>T)
c.2034T>A (p.Ala678=)
c.27+2137A>T
6g.116120082_116120083insATCA2680093580COL10A1,NT5DC1c.529+2137_529+2138insAT (n.529+2137_529+2138insAT)
c.2033_2034insAT (p.Pro679PhefsTer9)
c.27+2137_27+2138insAT
 gnomAD v4
6g.116120083G>ACA365386164COL10A1,NT5DC1c.529+2138G>A (n.529+2138G>A)
c.2033C>T (p.Ala678Val)
c.27+2138G>A
6g.116120083G>CCA365386163COL10A1,NT5DC1c.529+2138G>C (n.529+2138G>C)
c.2033C>G (p.Ala678Gly)
c.27+2138G>C
6g.116120083G>TCA365386162COL10A1,NT5DC1c.529+2138G>T (n.529+2138G>T)
c.2033C>A (p.Ala678Asp)
c.27+2138G>T
 gnomAD v4
6g.116120084C>ACA365386165COL10A1,NT5DC1c.529+2139C>A (n.529+2139C>A)
c.2032G>T (p.Ala678Ser)
c.27+2139C>A
6g.116120084C=CA1657093171COL10A1,NT5DC1c.529+2139C= (n.529+2139C=)
c.2032G= (p.Ala678=)
c.27+2139C=
6g.116120084C>GCA3968071COL10A1,NT5DC1c.529+2139C>G (n.529+2139C>G)
c.2032G>C (p.Ala678Pro)
c.27+2139C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120084C>TCA365386166COL10A1,NT5DC1c.529+2139C>T (n.529+2139C>T)
c.2032G>A (p.Ala678Thr)
c.27+2139C>T
6g.116120085C>ACA451899328COL10A1,NT5DC1c.529+2140C>A (n.529+2140C>A)
c.2031G>T (p.Val677=)
c.27+2140C>A
6g.116120085C>GCA451899330COL10A1,NT5DC1c.529+2140C>G (n.529+2140C>G)
c.2031G>C (p.Val677=)
c.27+2140C>G
 gnomAD v4
6g.116120085C>TCA451899329COL10A1,NT5DC1c.529+2140C>T (n.529+2140C>T)
c.2031G>A (p.Val677=)
c.27+2140C>T
6g.116120086A=CA1657093172COL10A1,NT5DC1c.529+2141A= (n.529+2141A=)
c.2030T= (p.Val677=)
c.27+2141A=
6g.116120086A>CCA365386167COL10A1,NT5DC1c.529+2141A>C (n.529+2141A>C)
c.2030T>G (p.Val677Gly)
c.27+2141A>C
6g.116120086A>GCA365386168COL10A1,NT5DC1c.529+2141A>G (n.529+2141A>G)
c.2030T>C (p.Val677Ala)
c.27+2141A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120086A>TCA365386169COL10A1,NT5DC1c.529+2141A>T (n.529+2141A>T)
c.2030T>A (p.Val677Glu)
c.27+2141A>T
6g.116120087delCA2695206880COL10A1,NT5DC1c.529+2142del (n.529+2142del)
c.2029del (p.Val677TrpfsTer10)
c.27+2142del
6g.116120087C>ACA365386172COL10A1,NT5DC1c.529+2142C>A (n.529+2142C>A)
c.2029G>T (p.Val677Leu)
c.27+2142C>A
6g.116120087C>GCA365386170COL10A1,NT5DC1c.529+2142C>G (n.529+2142C>G)
c.2029G>C (p.Val677Leu)
c.27+2142C>G
6g.116120087C>TCA365386171COL10A1,NT5DC1c.529+2142C>T (n.529+2142C>T)
c.2029G>A (p.Val677Met)
c.27+2142C>T
 gnomAD v4
6g.116120088T>ACA451899331COL10A1,NT5DC1c.529+2143T>A (n.529+2143T>A)
c.2028A>T (p.Leu676=)
c.27+2143T>A
6g.116120088T>CCA451899332COL10A1,NT5DC1c.529+2143T>C (n.529+2143T>C)
c.2028A>G (p.Leu676=)
c.27+2143T>C
6g.116120088T>GCA451899333COL10A1,NT5DC1c.529+2143T>G (n.529+2143T>G)
c.2028A>C (p.Leu676=)
c.27+2143T>G
6g.116120089A>CCA365386173COL10A1,NT5DC1c.529+2144A>C (n.529+2144A>C)
c.2027T>G (p.Leu676Arg)
c.27+2144A>C
6g.116120089A>GCA365386174COL10A1,NT5DC1c.529+2144A>G (n.529+2144A>G)
c.2027T>C (p.Leu676Pro)
c.27+2144A>G
 ClinVar
6g.116120089A>TCA365386175COL10A1,NT5DC1c.529+2144A>T (n.529+2144A>T)
c.2027T>A (p.Leu676Gln)
c.27+2144A>T
6g.116120090G>ACA451899334COL10A1,NT5DC1c.529+2145G>A (n.529+2145G>A)
c.2026C>T (p.Leu676=)
c.27+2145G>A
6g.116120090G>CCA3968072COL10A1,NT5DC1c.529+2145G>C (n.529+2145G>C)
c.2026C>G (p.Leu676Val)
c.27+2145G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120090G=CA1657093173COL10A1,NT5DC1c.529+2145G= (n.529+2145G=)
c.2026C= (p.Leu676=)
c.27+2145G=
6g.116120090G>TCA365386176COL10A1,NT5DC1c.529+2145G>T (n.529+2145G>T)
c.2026C>A (p.Leu676Ile)
c.27+2145G>T
6g.116120091G>ACA451899335COL10A1,NT5DC1c.529+2146G>A (n.529+2146G>A)
c.2025C>T (p.Phe675=)
c.27+2146G>A
6g.116120091G>CCA3968073COL10A1,NT5DC1c.529+2146G>C (n.529+2146G>C)
c.2025C>G (p.Phe675Leu)
c.27+2146G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120091G=CA1657093174COL10A1,NT5DC1c.529+2146G= (n.529+2146G=)
c.2025C= (p.Phe675=)
c.27+2146G=
6g.116120091G>TCA3968074COL10A1,NT5DC1c.529+2146G>T (n.529+2146G>T)
c.2025C>A (p.Phe675Leu)
c.27+2146G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120092A>CCA365386177COL10A1,NT5DC1c.529+2147A>C (n.529+2147A>C)
c.2024T>G (p.Phe675Cys)
c.27+2147A>C
6g.116120092A>GCA365386178COL10A1,NT5DC1c.529+2147A>G (n.529+2147A>G)
c.2024T>C (p.Phe675Ser)
c.27+2147A>G
6g.116120092A>TCA365386179COL10A1,NT5DC1c.529+2147A>T (n.529+2147A>T)
c.2024T>A (p.Phe675Tyr)
c.27+2147A>T
6g.116120093A>CCA365386180COL10A1,NT5DC1c.529+2148A>C (n.529+2148A>C)
c.2023T>G (p.Phe675Val)
c.27+2148A>C
6g.116120093A>GCA365386181COL10A1,NT5DC1c.529+2148A>G (n.529+2148A>G)
c.2023T>C (p.Phe675Leu)
c.27+2148A>G
6g.116120093A>TCA365386182COL10A1,NT5DC1c.529+2148A>T (n.529+2148A>T)
c.2023T>A (p.Phe675Ile)
c.27+2148A>T
6g.116120094T>ACA451899338COL10A1,NT5DC1c.529+2149T>A (n.529+2149T>A)
c.2022A>T (p.Gly674=)
c.27+2149T>A
6g.116120094T>CCA451899336COL10A1,NT5DC1c.529+2149T>C (n.529+2149T>C)
c.2022A>G (p.Gly674=)
c.27+2149T>C
 gnomAD v4
6g.116120094T>GCA451899337COL10A1,NT5DC1c.529+2149T>G (n.529+2149T>G)
c.2022A>C (p.Gly674=)
c.27+2149T>G
6g.116120095C>ACA365386183COL10A1,NT5DC1c.529+2150C>A (n.529+2150C>A)
c.2021G>T (p.Gly674Val)
c.27+2150C>A
6g.116120095C=CA1657093175COL10A1,NT5DC1c.529+2150C= (n.529+2150C=)
c.2021G= (p.Gly674=)
c.27+2150C=
6g.116120095C>GCA365386185COL10A1,NT5DC1c.529+2150C>G (n.529+2150C>G)
c.2021G>C (p.Gly674Ala)
c.27+2150C>G
6g.116120095C>TCA365386184COL10A1,NT5DC1c.529+2150C>T (n.529+2150C>T)
c.2021G>A (p.Gly674Glu)
c.27+2150C>T
 ClinVar dbSNP
6g.116120096C>ACA365386186COL10A1,NT5DC1c.529+2151C>A (n.529+2151C>A)
c.2020G>T (p.Gly674Ter)
c.27+2151C>A
6g.116120096C>GCA365386187COL10A1,NT5DC1c.529+2151C>G (n.529+2151C>G)
c.2020G>C (p.Gly674Arg)
c.27+2151C>G
6g.116120096C>TCA365386188COL10A1,NT5DC1c.529+2151C>T (n.529+2151C>T)
c.2020G>A (p.Gly674Arg)
c.27+2151C>T
6g.116120097T>ACA451899339COL10A1,NT5DC1c.529+2152T>A (n.529+2152T>A)
c.2019A>T (p.Ser673=)
c.27+2152T>A
6g.116120097T>CCA451899340COL10A1,NT5DC1c.529+2152T>C (n.529+2152T>C)
c.2019A>G (p.Ser673=)
c.27+2152T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116120097T>GCA451899341COL10A1,NT5DC1c.529+2152T>G (n.529+2152T>G)
c.2019A>C (p.Ser673=)
c.27+2152T>G
6g.116120097T=CA1657093176COL10A1,NT5DC1c.529+2152T= (n.529+2152T=)
c.2019A= (p.Ser673=)
c.27+2152T=
6g.116120098G>ACA3968075COL10A1,NT5DC1c.529+2153G>A (n.529+2153G>A)
c.2018C>T (p.Ser673Leu)
c.27+2153G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120098G>CCA365386189COL10A1,NT5DC1c.529+2153G>C (n.529+2153G>C)
c.2018C>G (p.Ser673Ter)
c.27+2153G>C
6g.116120098G=CA1657093177COL10A1,NT5DC1c.529+2153G= (n.529+2153G=)
c.2018C= (p.Ser673=)
c.27+2153G=
6g.116120098G>TCA365386190COL10A1,NT5DC1c.529+2153G>T (n.529+2153G>T)
c.2018C>A (p.Ser673Ter)
c.27+2153G>T
6g.116120100_116120101delCA2680093581COL10A1,NT5DC1c.529+2155_529+2156del (n.529+2155_529+2156del)
c.2017_2018del (p.Ser673ArgfsTer?)
c.27+2155_27+2156del
 gnomAD v4
6g.116120101_116120106delCA645555754COL10A1,NT5DC1c.529+2156_529+2161del (n.529+2156_529+2161del)
c.2013_2018del (p.Phe672_Ser673del)
c.27+2156_27+2161del
 COSMIC
6g.116120099A>CCA365386191COL10A1,NT5DC1c.529+2154A>C (n.529+2154A>C)
c.2017T>G (p.Ser673Ala)
c.27+2154A>C
6g.116120099A>GCA365386192COL10A1,NT5DC1c.529+2154A>G (n.529+2154A>G)
c.2017T>C (p.Ser673Pro)
c.27+2154A>G
 ClinVar dbSNP
6g.116120099A>TCA365386193COL10A1,NT5DC1c.529+2154A>T (n.529+2154A>T)
c.2017T>A (p.Ser673Thr)
c.27+2154A>T

Number of alleles fetched