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.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 |
| 6 | g.116120071A= | CA1657093164 | COL10A1,NT5DC1 | c.529+2126A= (n.529+2126A=) c.*2T= (n.*2T=) c.27+2126A= | |
| 6 | g.116120071A>G | CA817679561 | COL10A1,NT5DC1 | c.529+2126A>G (n.529+2126A>G) c.*2T>C (n.*2T>C) c.27+2126A>G | dbSNP gnomAD v4 |
| 6 | g.116120071_116120072insTG | CA2547297765 | COL10A1,NT5DC1 | c.529+2126_529+2127insTG (n.529+2126_529+2127insTG) c.*1_*2insCA (n.*1_*2insCA) c.27+2126_27+2127insTG | |
| 6 | g.116120072C>T | CA2680093578 | COL10A1,NT5DC1 | c.529+2127C>T (n.529+2127C>T) c.*1G>A (n.*1G>A) c.27+2127C>T | gnomAD v4 |
| 6 | g.116120073T>A | CA365386143 | COL10A1,NT5DC1 | c.529+2128T>A (n.529+2128T>A) c.2043A>T (p.Ter681Cys) c.27+2128T>A | |
| 6 | g.116120073T>C | CA365386144 | COL10A1,NT5DC1 | c.529+2128T>C (n.529+2128T>C) c.2043A>G (p.Ter681Trp) c.27+2128T>C | |
| 6 | g.116120073T>G | CA365386145 | COL10A1,NT5DC1 | c.529+2128T>G (n.529+2128T>G) c.2043A>C (p.Ter681Cys) c.27+2128T>G | |
| 6 | g.116120074C>A | CA365386146 | COL10A1,NT5DC1 | c.529+2129C>A (n.529+2129C>A) c.2042G>T (p.Ter681Leu) c.27+2129C>A | |
| 6 | g.116120074C>G | CA365386147 | COL10A1,NT5DC1 | c.529+2129C>G (n.529+2129C>G) c.2042G>C (p.Ter681Ser) c.27+2129C>G | gnomAD v4 |
| 6 | g.116120074C>T | CA451899322 | COL10A1,NT5DC1 | c.529+2129C>T (n.529+2129C>T) c.2042G>A (p.Ter681=) c.27+2129C>T | |
| 6 | g.116120075A= | CA1657093165 | COL10A1,NT5DC1 | c.529+2130A= (n.529+2130A=) c.2041T= (p.Ter681=) c.27+2130A= | |
| 6 | g.116120075A>C | CA365386148 | COL10A1,NT5DC1 | c.529+2130A>C (n.529+2130A>C) c.2041T>G (p.Ter681Gly) c.27+2130A>C | |
| 6 | g.116120075A>G | CA365386149 | COL10A1,NT5DC1 | c.529+2130A>G (n.529+2130A>G) c.2041T>C (p.Ter681Arg) c.27+2130A>G | dbSNP |
| 6 | g.116120075A>T | CA365386150 | COL10A1,NT5DC1 | c.529+2130A>T (n.529+2130A>T) c.2041T>A (p.Ter681Arg) c.27+2130A>T | |
| 6 | g.116120076C>A | CA365386151 | COL10A1,NT5DC1 | c.529+2131C>A (n.529+2131C>A) c.2040G>T (p.Met680Ile) c.27+2131C>A | |
| 6 | g.116120076C= | CA1657093166 | COL10A1,NT5DC1 | c.529+2131C= (n.529+2131C=) c.2040G= (p.Met680=) c.27+2131C= | |
| 6 | g.116120076C>G | CA3968066 | COL10A1,NT5DC1 | c.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 |
| 6 | g.116120076C>T | CA365386152 | COL10A1,NT5DC1 | c.529+2131C>T (n.529+2131C>T) c.2040G>A (p.Met680Ile) c.27+2131C>T | |
| 6 | g.116120077A= | CA1657093167 | COL10A1,NT5DC1 | c.529+2132A= (n.529+2132A=) c.2039T= (p.Met680=) c.27+2132A= | |
| 6 | g.116120077A>C | CA365386154 | COL10A1,NT5DC1 | c.529+2132A>C (n.529+2132A>C) c.2039T>G (p.Met680Arg) c.27+2132A>C | |
| 6 | g.116120077A>G | CA365386153 | COL10A1,NT5DC1 | c.529+2132A>G (n.529+2132A>G) c.2039T>C (p.Met680Thr) c.27+2132A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120077A>T | CA3968067 | COL10A1,NT5DC1 | c.529+2132A>T (n.529+2132A>T) c.2039T>A (p.Met680Lys) c.27+2132A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.116120078T>A | CA365386155 | COL10A1,NT5DC1 | c.529+2133T>A (n.529+2133T>A) c.2038A>T (p.Met680Leu) c.27+2133T>A | |
| 6 | g.116120078T>C | CA3968068 | COL10A1,NT5DC1 | c.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 |
| 6 | g.116120078T>G | CA365386156 | COL10A1,NT5DC1 | c.529+2133T>G (n.529+2133T>G) c.2038A>C (p.Met680Leu) c.27+2133T>G | |
| 6 | g.116120078T= | CA1657093168 | COL10A1,NT5DC1 | c.529+2133T= (n.529+2133T=) c.2038A= (p.Met680=) c.27+2133T= | |
| 6 | g.116120079T>A | CA451899323 | COL10A1,NT5DC1 | c.529+2134T>A (n.529+2134T>A) c.2037A>T (p.Pro679=) c.27+2134T>A | gnomAD v4 |
| 6 | g.116120079T>C | CA451899324 | COL10A1,NT5DC1 | c.529+2134T>C (n.529+2134T>C) c.2037A>G (p.Pro679=) c.27+2134T>C | |
| 6 | g.116120079T>G | CA3968069 | COL10A1,NT5DC1 | c.529+2134T>G (n.529+2134T>G) c.2037A>C (p.Pro679=) c.27+2134T>G | dbSNP ExAC gnomAD v2 |
| 6 | g.116120079T= | CA1657093169 | COL10A1,NT5DC1 | c.529+2134T= (n.529+2134T=) c.2037A= (p.Pro679=) c.27+2134T= | |
| 6 | g.116120088_116120166dup | CA2680093579 | COL10A1,NT5DC1 | c.529+2143_529+2221dup (n.529+2143_529+2221dup) c.1959_2037dup (p.Met680AlafsTer13) c.27+2143_27+2221dup | gnomAD v4 |
| 6 | g.116120080G>A | CA365386159 | COL10A1,NT5DC1 | c.529+2135G>A (n.529+2135G>A) c.2036C>T (p.Pro679Leu) c.27+2135G>A | |
| 6 | g.116120080G>C | CA365386157 | COL10A1,NT5DC1 | c.529+2135G>C (n.529+2135G>C) c.2036C>G (p.Pro679Arg) c.27+2135G>C | |
| 6 | g.116120080G>T | CA365386158 | COL10A1,NT5DC1 | c.529+2135G>T (n.529+2135G>T) c.2036C>A (p.Pro679Gln) c.27+2135G>T | |
| 6 | g.116120081G>A | CA365386160 | COL10A1,NT5DC1 | c.529+2136G>A (n.529+2136G>A) c.2035C>T (p.Pro679Ser) c.27+2136G>A | gnomAD v4 |
| 6 | g.116120081G>C | CA365386161 | COL10A1,NT5DC1 | c.529+2136G>C (n.529+2136G>C) c.2035C>G (p.Pro679Ala) c.27+2136G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120081G= | CA1657093170 | COL10A1,NT5DC1 | c.529+2136G= (n.529+2136G=) c.2035C= (p.Pro679=) c.27+2136G= | |
| 6 | g.116120081G>T | CA3968070 | COL10A1,NT5DC1 | c.529+2136G>T (n.529+2136G>T) c.2035C>A (p.Pro679Thr) c.27+2136G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120082A>C | CA451899325 | COL10A1,NT5DC1 | c.529+2137A>C (n.529+2137A>C) c.2034T>G (p.Ala678=) c.27+2137A>C | |
| 6 | g.116120082A>G | CA451899326 | COL10A1,NT5DC1 | c.529+2137A>G (n.529+2137A>G) c.2034T>C (p.Ala678=) c.27+2137A>G | |
| 6 | g.116120082A>T | CA451899327 | COL10A1,NT5DC1 | c.529+2137A>T (n.529+2137A>T) c.2034T>A (p.Ala678=) c.27+2137A>T | |
| 6 | g.116120082_116120083insAT | CA2680093580 | COL10A1,NT5DC1 | c.529+2137_529+2138insAT (n.529+2137_529+2138insAT) c.2033_2034insAT (p.Pro679PhefsTer9) c.27+2137_27+2138insAT | gnomAD v4 |
| 6 | g.116120083G>A | CA365386164 | COL10A1,NT5DC1 | c.529+2138G>A (n.529+2138G>A) c.2033C>T (p.Ala678Val) c.27+2138G>A | |
| 6 | g.116120083G>C | CA365386163 | COL10A1,NT5DC1 | c.529+2138G>C (n.529+2138G>C) c.2033C>G (p.Ala678Gly) c.27+2138G>C | |
| 6 | g.116120083G>T | CA365386162 | COL10A1,NT5DC1 | c.529+2138G>T (n.529+2138G>T) c.2033C>A (p.Ala678Asp) c.27+2138G>T | gnomAD v4 |
| 6 | g.116120084C>A | CA365386165 | COL10A1,NT5DC1 | c.529+2139C>A (n.529+2139C>A) c.2032G>T (p.Ala678Ser) c.27+2139C>A | |
| 6 | g.116120084C= | CA1657093171 | COL10A1,NT5DC1 | c.529+2139C= (n.529+2139C=) c.2032G= (p.Ala678=) c.27+2139C= | |
| 6 | g.116120084C>G | CA3968071 | COL10A1,NT5DC1 | c.529+2139C>G (n.529+2139C>G) c.2032G>C (p.Ala678Pro) c.27+2139C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120084C>T | CA365386166 | COL10A1,NT5DC1 | c.529+2139C>T (n.529+2139C>T) c.2032G>A (p.Ala678Thr) c.27+2139C>T | |
| 6 | g.116120085C>A | CA451899328 | COL10A1,NT5DC1 | c.529+2140C>A (n.529+2140C>A) c.2031G>T (p.Val677=) c.27+2140C>A | |
| 6 | g.116120085C>G | CA451899330 | COL10A1,NT5DC1 | c.529+2140C>G (n.529+2140C>G) c.2031G>C (p.Val677=) c.27+2140C>G | gnomAD v4 |
| 6 | g.116120085C>T | CA451899329 | COL10A1,NT5DC1 | c.529+2140C>T (n.529+2140C>T) c.2031G>A (p.Val677=) c.27+2140C>T | |
| 6 | g.116120086A= | CA1657093172 | COL10A1,NT5DC1 | c.529+2141A= (n.529+2141A=) c.2030T= (p.Val677=) c.27+2141A= | |
| 6 | g.116120086A>C | CA365386167 | COL10A1,NT5DC1 | c.529+2141A>C (n.529+2141A>C) c.2030T>G (p.Val677Gly) c.27+2141A>C | |
| 6 | g.116120086A>G | CA365386168 | COL10A1,NT5DC1 | c.529+2141A>G (n.529+2141A>G) c.2030T>C (p.Val677Ala) c.27+2141A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120086A>T | CA365386169 | COL10A1,NT5DC1 | c.529+2141A>T (n.529+2141A>T) c.2030T>A (p.Val677Glu) c.27+2141A>T | |
| 6 | g.116120087del | CA2695206880 | COL10A1,NT5DC1 | c.529+2142del (n.529+2142del) c.2029del (p.Val677TrpfsTer10) c.27+2142del | |
| 6 | g.116120087C>A | CA365386172 | COL10A1,NT5DC1 | c.529+2142C>A (n.529+2142C>A) c.2029G>T (p.Val677Leu) c.27+2142C>A | |
| 6 | g.116120087C>G | CA365386170 | COL10A1,NT5DC1 | c.529+2142C>G (n.529+2142C>G) c.2029G>C (p.Val677Leu) c.27+2142C>G | |
| 6 | g.116120087C>T | CA365386171 | COL10A1,NT5DC1 | c.529+2142C>T (n.529+2142C>T) c.2029G>A (p.Val677Met) c.27+2142C>T | gnomAD v4 |
| 6 | g.116120088T>A | CA451899331 | COL10A1,NT5DC1 | c.529+2143T>A (n.529+2143T>A) c.2028A>T (p.Leu676=) c.27+2143T>A | |
| 6 | g.116120088T>C | CA451899332 | COL10A1,NT5DC1 | c.529+2143T>C (n.529+2143T>C) c.2028A>G (p.Leu676=) c.27+2143T>C | |
| 6 | g.116120088T>G | CA451899333 | COL10A1,NT5DC1 | c.529+2143T>G (n.529+2143T>G) c.2028A>C (p.Leu676=) c.27+2143T>G | |
| 6 | g.116120089A>C | CA365386173 | COL10A1,NT5DC1 | c.529+2144A>C (n.529+2144A>C) c.2027T>G (p.Leu676Arg) c.27+2144A>C | |
| 6 | g.116120089A>G | CA365386174 | COL10A1,NT5DC1 | c.529+2144A>G (n.529+2144A>G) c.2027T>C (p.Leu676Pro) c.27+2144A>G | ClinVar |
| 6 | g.116120089A>T | CA365386175 | COL10A1,NT5DC1 | c.529+2144A>T (n.529+2144A>T) c.2027T>A (p.Leu676Gln) c.27+2144A>T | |
| 6 | g.116120090G>A | CA451899334 | COL10A1,NT5DC1 | c.529+2145G>A (n.529+2145G>A) c.2026C>T (p.Leu676=) c.27+2145G>A | |
| 6 | g.116120090G>C | CA3968072 | COL10A1,NT5DC1 | c.529+2145G>C (n.529+2145G>C) c.2026C>G (p.Leu676Val) c.27+2145G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120090G= | CA1657093173 | COL10A1,NT5DC1 | c.529+2145G= (n.529+2145G=) c.2026C= (p.Leu676=) c.27+2145G= | |
| 6 | g.116120090G>T | CA365386176 | COL10A1,NT5DC1 | c.529+2145G>T (n.529+2145G>T) c.2026C>A (p.Leu676Ile) c.27+2145G>T | |
| 6 | g.116120091G>A | CA451899335 | COL10A1,NT5DC1 | c.529+2146G>A (n.529+2146G>A) c.2025C>T (p.Phe675=) c.27+2146G>A | |
| 6 | g.116120091G>C | CA3968073 | COL10A1,NT5DC1 | c.529+2146G>C (n.529+2146G>C) c.2025C>G (p.Phe675Leu) c.27+2146G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120091G= | CA1657093174 | COL10A1,NT5DC1 | c.529+2146G= (n.529+2146G=) c.2025C= (p.Phe675=) c.27+2146G= | |
| 6 | g.116120091G>T | CA3968074 | COL10A1,NT5DC1 | c.529+2146G>T (n.529+2146G>T) c.2025C>A (p.Phe675Leu) c.27+2146G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120092A>C | CA365386177 | COL10A1,NT5DC1 | c.529+2147A>C (n.529+2147A>C) c.2024T>G (p.Phe675Cys) c.27+2147A>C | |
| 6 | g.116120092A>G | CA365386178 | COL10A1,NT5DC1 | c.529+2147A>G (n.529+2147A>G) c.2024T>C (p.Phe675Ser) c.27+2147A>G | |
| 6 | g.116120092A>T | CA365386179 | COL10A1,NT5DC1 | c.529+2147A>T (n.529+2147A>T) c.2024T>A (p.Phe675Tyr) c.27+2147A>T | |
| 6 | g.116120093A>C | CA365386180 | COL10A1,NT5DC1 | c.529+2148A>C (n.529+2148A>C) c.2023T>G (p.Phe675Val) c.27+2148A>C | |
| 6 | g.116120093A>G | CA365386181 | COL10A1,NT5DC1 | c.529+2148A>G (n.529+2148A>G) c.2023T>C (p.Phe675Leu) c.27+2148A>G | |
| 6 | g.116120093A>T | CA365386182 | COL10A1,NT5DC1 | c.529+2148A>T (n.529+2148A>T) c.2023T>A (p.Phe675Ile) c.27+2148A>T | |
| 6 | g.116120094T>A | CA451899338 | COL10A1,NT5DC1 | c.529+2149T>A (n.529+2149T>A) c.2022A>T (p.Gly674=) c.27+2149T>A | |
| 6 | g.116120094T>C | CA451899336 | COL10A1,NT5DC1 | c.529+2149T>C (n.529+2149T>C) c.2022A>G (p.Gly674=) c.27+2149T>C | gnomAD v4 |
| 6 | g.116120094T>G | CA451899337 | COL10A1,NT5DC1 | c.529+2149T>G (n.529+2149T>G) c.2022A>C (p.Gly674=) c.27+2149T>G | |
| 6 | g.116120095C>A | CA365386183 | COL10A1,NT5DC1 | c.529+2150C>A (n.529+2150C>A) c.2021G>T (p.Gly674Val) c.27+2150C>A | |
| 6 | g.116120095C= | CA1657093175 | COL10A1,NT5DC1 | c.529+2150C= (n.529+2150C=) c.2021G= (p.Gly674=) c.27+2150C= | |
| 6 | g.116120095C>G | CA365386185 | COL10A1,NT5DC1 | c.529+2150C>G (n.529+2150C>G) c.2021G>C (p.Gly674Ala) c.27+2150C>G | |
| 6 | g.116120095C>T | CA365386184 | COL10A1,NT5DC1 | c.529+2150C>T (n.529+2150C>T) c.2021G>A (p.Gly674Glu) c.27+2150C>T | ClinVar dbSNP |
| 6 | g.116120096C>A | CA365386186 | COL10A1,NT5DC1 | c.529+2151C>A (n.529+2151C>A) c.2020G>T (p.Gly674Ter) c.27+2151C>A | |
| 6 | g.116120096C>G | CA365386187 | COL10A1,NT5DC1 | c.529+2151C>G (n.529+2151C>G) c.2020G>C (p.Gly674Arg) c.27+2151C>G | |
| 6 | g.116120096C>T | CA365386188 | COL10A1,NT5DC1 | c.529+2151C>T (n.529+2151C>T) c.2020G>A (p.Gly674Arg) c.27+2151C>T | |
| 6 | g.116120097T>A | CA451899339 | COL10A1,NT5DC1 | c.529+2152T>A (n.529+2152T>A) c.2019A>T (p.Ser673=) c.27+2152T>A | |
| 6 | g.116120097T>C | CA451899340 | COL10A1,NT5DC1 | c.529+2152T>C (n.529+2152T>C) c.2019A>G (p.Ser673=) c.27+2152T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120097T>G | CA451899341 | COL10A1,NT5DC1 | c.529+2152T>G (n.529+2152T>G) c.2019A>C (p.Ser673=) c.27+2152T>G | |
| 6 | g.116120097T= | CA1657093176 | COL10A1,NT5DC1 | c.529+2152T= (n.529+2152T=) c.2019A= (p.Ser673=) c.27+2152T= | |
| 6 | g.116120098G>A | CA3968075 | COL10A1,NT5DC1 | c.529+2153G>A (n.529+2153G>A) c.2018C>T (p.Ser673Leu) c.27+2153G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120098G>C | CA365386189 | COL10A1,NT5DC1 | c.529+2153G>C (n.529+2153G>C) c.2018C>G (p.Ser673Ter) c.27+2153G>C | |
| 6 | g.116120098G= | CA1657093177 | COL10A1,NT5DC1 | c.529+2153G= (n.529+2153G=) c.2018C= (p.Ser673=) c.27+2153G= | |
| 6 | g.116120098G>T | CA365386190 | COL10A1,NT5DC1 | c.529+2153G>T (n.529+2153G>T) c.2018C>A (p.Ser673Ter) c.27+2153G>T | |
| 6 | g.116120100_116120101del | CA2680093581 | COL10A1,NT5DC1 | c.529+2155_529+2156del (n.529+2155_529+2156del) c.2017_2018del (p.Ser673ArgfsTer?) c.27+2155_27+2156del | gnomAD v4 |
| 6 | g.116120101_116120106del | CA645555754 | COL10A1,NT5DC1 | c.529+2156_529+2161del (n.529+2156_529+2161del) c.2013_2018del (p.Phe672_Ser673del) c.27+2156_27+2161del | COSMIC |
| 6 | g.116120099A>C | CA365386191 | COL10A1,NT5DC1 | c.529+2154A>C (n.529+2154A>C) c.2017T>G (p.Ser673Ala) c.27+2154A>C | |
| 6 | g.116120099A>G | CA365386192 | COL10A1,NT5DC1 | c.529+2154A>G (n.529+2154A>G) c.2017T>C (p.Ser673Pro) c.27+2154A>G | ClinVar dbSNP |
| 6 | g.116120099A>T | CA365386193 | COL10A1,NT5DC1 | c.529+2154A>T (n.529+2154A>T) c.2017T>A (p.Ser673Thr) c.27+2154A>T | |
| 6 | g.116120100G>A | CA451899342 | COL10A1,NT5DC1 | c.529+2155G>A (n.529+2155G>A) c.2016C>T (p.Phe672=) c.27+2155G>A | |
| 6 | g.116120100G>C | CA365386194 | COL10A1,NT5DC1 | c.529+2155G>C (n.529+2155G>C) c.2016C>G (p.Phe672Leu) c.27+2155G>C | |
| 6 | g.116120100G>T | CA365386195 | COL10A1,NT5DC1 | c.529+2155G>T (n.529+2155G>T) c.2016C>A (p.Phe672Leu) c.27+2155G>T | |
| 6 | g.116120101A>C | CA365386198 | COL10A1,NT5DC1 | c.529+2156A>C (n.529+2156A>C) c.2015T>G (p.Phe672Cys) c.27+2156A>C | |
| 6 | g.116120101A>G | CA365386197 | COL10A1,NT5DC1 | c.529+2156A>G (n.529+2156A>G) c.2015T>C (p.Phe672Ser) c.27+2156A>G | |
| 6 | g.116120101A>T | CA365386196 | COL10A1,NT5DC1 | c.529+2156A>T (n.529+2156A>T) c.2015T>A (p.Phe672Tyr) c.27+2156A>T | |
| 6 | g.116120102A= | CA1657093178 | COL10A1,NT5DC1 | c.529+2157A= (n.529+2157A=) c.2014T= (p.Phe672=) c.27+2157A= | |
| 6 | g.116120102A>C | CA365386199 | COL10A1,NT5DC1 | c.529+2157A>C (n.529+2157A>C) c.2014T>G (p.Phe672Val) c.27+2157A>C | ClinVar dbSNP |
| 6 | g.116120102A>G | CA365386200 | COL10A1,NT5DC1 | c.529+2157A>G (n.529+2157A>G) c.2014T>C (p.Phe672Leu) c.27+2157A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120102A>T | CA365386201 | COL10A1,NT5DC1 | c.529+2157A>T (n.529+2157A>T) c.2014T>A (p.Phe672Ile) c.27+2157A>T | |
| 6 | g.116120103A>C | CA451899343 | COL10A1,NT5DC1 | c.529+2158A>C (n.529+2158A>C) c.2013T>G (p.Ser671=) c.27+2158A>C | |
| 6 | g.116120103A>G | CA451899344 | COL10A1,NT5DC1 | c.529+2158A>G (n.529+2158A>G) c.2013T>C (p.Ser671=) c.27+2158A>G | gnomAD v4 |
| 6 | g.116120103A>T | CA451899345 | COL10A1,NT5DC1 | c.529+2158A>T (n.529+2158A>T) c.2013T>A (p.Ser671=) c.27+2158A>T | |
| 6 | g.116120105_116120106del | CA2680093582 | COL10A1,NT5DC1 | c.529+2160_529+2161del (n.529+2160_529+2161del) c.2012_2013del (p.Ser671PhefsTer?) c.27+2160_27+2161del | gnomAD v4 |
| 6 | g.116120104G>A | CA365386202 | COL10A1,NT5DC1 | c.529+2159G>A (n.529+2159G>A) c.2012C>T (p.Ser671Phe) c.27+2159G>A | |
| 6 | g.116120104G>C | CA365386203 | COL10A1,NT5DC1 | c.529+2159G>C (n.529+2159G>C) c.2012C>G (p.Ser671Cys) c.27+2159G>C | |
| 6 | g.116120104G>T | CA365386204 | COL10A1,NT5DC1 | c.529+2159G>T (n.529+2159G>T) c.2012C>A (p.Ser671Tyr) c.27+2159G>T | |
| 6 | g.116120105A= | CA1657093179 | COL10A1,NT5DC1 | c.529+2160A= (n.529+2160A=) c.2011T= (p.Ser671=) c.27+2160A= | |
| 6 | g.116120105A>C | CA365386205 | COL10A1,NT5DC1 | c.529+2160A>C (n.529+2160A>C) c.2011T>G (p.Ser671Ala) c.27+2160A>C | gnomAD v4 |
| 6 | g.116120105A>G | CA127220 | COL10A1,NT5DC1 | c.529+2160A>G (n.529+2160A>G) c.2011T>C (p.Ser671Pro) c.27+2160A>G | ClinVar dbSNP |
| 6 | g.116120105A>T | CA365386206 | COL10A1,NT5DC1 | c.529+2160A>T (n.529+2160A>T) c.2011T>A (p.Ser671Thr) c.27+2160A>T | |
| 6 | g.116120106G>A | CA451899346 | COL10A1,NT5DC1 | c.529+2161G>A (n.529+2161G>A) c.2010C>T (p.Ser670=) c.27+2161G>A | |
| 6 | g.116120106G>C | CA451899347 | COL10A1,NT5DC1 | c.529+2161G>C (n.529+2161G>C) c.2010C>G (p.Ser670=) c.27+2161G>C | |
| 6 | g.116120106G>T | CA451899348 | COL10A1,NT5DC1 | c.529+2161G>T (n.529+2161G>T) c.2010C>A (p.Ser670=) c.27+2161G>T | |
| 6 | g.116120107dup | CA2499218042 | COL10A1,NT5DC1 | c.529+2162dup (n.529+2162dup) c.2010dup (p.Ser671LeufsTer?) c.27+2162dup | ClinVar dbSNP |
| 6 | g.116120107G>A | CA365386207 | COL10A1,NT5DC1 | c.529+2162G>A (n.529+2162G>A) c.2009C>T (p.Ser670Phe) c.27+2162G>A | |
| 6 | g.116120107G>C | CA365386208 | COL10A1,NT5DC1 | c.529+2162G>C (n.529+2162G>C) c.2009C>G (p.Ser670Cys) c.27+2162G>C | |
| 6 | g.116120107G>T | CA365386209 | COL10A1,NT5DC1 | c.529+2162G>T (n.529+2162G>T) c.2009C>A (p.Ser670Tyr) c.27+2162G>T | |
| 6 | g.116120108A>C | CA365386212 | COL10A1,NT5DC1 | c.529+2163A>C (n.529+2163A>C) c.2008T>G (p.Ser670Ala) c.27+2163A>C | |
| 6 | g.116120108A>G | CA365386211 | COL10A1,NT5DC1 | c.529+2163A>G (n.529+2163A>G) c.2008T>C (p.Ser670Pro) c.27+2163A>G | COSMIC |
| 6 | g.116120108A>T | CA365386210 | COL10A1,NT5DC1 | c.529+2163A>T (n.529+2163A>T) c.2008T>A (p.Ser670Thr) c.27+2163A>T | |
| 6 | g.116120109G>A | CA3968076 | COL10A1,NT5DC1 | c.529+2164G>A (n.529+2164G>A) c.2007C>T (p.His669=) c.27+2164G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120109G>C | CA365386214 | COL10A1,NT5DC1 | c.529+2164G>C (n.529+2164G>C) c.2007C>G (p.His669Gln) c.27+2164G>C | |
| 6 | g.116120109G= | CA1657093180 | COL10A1,NT5DC1 | c.529+2164G= (n.529+2164G=) c.2007C= (p.His669=) c.27+2164G= | |
| 6 | g.116120109G>T | CA365386213 | COL10A1,NT5DC1 | c.529+2164G>T (n.529+2164G>T) c.2007C>A (p.His669Gln) c.27+2164G>T | |
| 6 | g.116120110T>A | CA365386215 | COL10A1,NT5DC1 | c.529+2165T>A (n.529+2165T>A) c.2006A>T (p.His669Leu) c.27+2165T>A | |
| 6 | g.116120110T>C | CA365386216 | COL10A1,NT5DC1 | c.529+2165T>C (n.529+2165T>C) c.2006A>G (p.His669Arg) c.27+2165T>C | dbSNP gnomAD v4 |
| 6 | g.116120110T>G | CA365386217 | COL10A1,NT5DC1 | c.529+2165T>G (n.529+2165T>G) c.2006A>C (p.His669Pro) c.27+2165T>G | |
| 6 | g.116120110T= | CA1657093181 | COL10A1,NT5DC1 | c.529+2165T= (n.529+2165T=) c.2006A= (p.His669=) c.27+2165T= | |
| 6 | g.116120111G>A | CA3968077 | COL10A1,NT5DC1 | c.529+2166G>A (n.529+2166G>A) c.2005C>T (p.His669Tyr) c.27+2166G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120111G>C | CA365386218 | COL10A1,NT5DC1 | c.529+2166G>C (n.529+2166G>C) c.2005C>G (p.His669Asp) c.27+2166G>C | |
| 6 | g.116120111G= | CA1657093182 | COL10A1,NT5DC1 | c.529+2166G= (n.529+2166G=) c.2005C= (p.His669=) c.27+2166G= | |
| 6 | g.116120111G>T | CA365386219 | COL10A1,NT5DC1 | c.529+2166G>T (n.529+2166G>T) c.2005C>A (p.His669Asn) c.27+2166G>T | |
| 6 | g.116120112del | CA2695206881 | COL10A1,NT5DC1 | c.529+2167del (n.529+2167del) c.2005del (p.His669ThrfsTer8) c.27+2167del | |
| 6 | g.116120112G>A | CA451899349 | COL10A1,NT5DC1 | c.529+2167G>A (n.529+2167G>A) c.2004C>T (p.Val668=) c.27+2167G>A | dbSNP |
| 6 | g.116120112G>C | CA451899350 | COL10A1,NT5DC1 | c.529+2167G>C (n.529+2167G>C) c.2004C>G (p.Val668=) c.27+2167G>C | |
| 6 | g.116120112G= | CA1657093183 | COL10A1,NT5DC1 | c.529+2167G= (n.529+2167G=) c.2004C= (p.Val668=) c.27+2167G= | |
| 6 | g.116120112G>T | CA451899351 | COL10A1,NT5DC1 | c.529+2167G>T (n.529+2167G>T) c.2004C>A (p.Val668=) c.27+2167G>T | gnomAD v4 |
| 6 | g.116120113A= | CA1657093184 | COL10A1,NT5DC1 | c.529+2168A= (n.529+2168A=) c.2003T= (p.Val668=) c.27+2168A= | |
| 6 | g.116120113A>C | CA365386220 | COL10A1,NT5DC1 | c.529+2168A>C (n.529+2168A>C) c.2003T>G (p.Val668Gly) c.27+2168A>C | |
| 6 | g.116120113A>G | CA3968078 | COL10A1,NT5DC1 | c.529+2168A>G (n.529+2168A>G) c.2003T>C (p.Val668Ala) c.27+2168A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120113A>T | CA365386221 | COL10A1,NT5DC1 | c.529+2168A>T (n.529+2168A>T) c.2003T>A (p.Val668Asp) c.27+2168A>T | |
| 6 | g.116120114C>A | CA365386222 | COL10A1,NT5DC1 | c.529+2169C>A (n.529+2169C>A) c.2002G>T (p.Val668Phe) c.27+2169C>A | |
| 6 | g.116120114C= | CA1657093185 | COL10A1,NT5DC1 | c.529+2169C= (n.529+2169C=) c.2002G= (p.Val668=) c.27+2169C= | |
| 6 | g.116120114C>G | CA365386223 | COL10A1,NT5DC1 | c.529+2169C>G (n.529+2169C>G) c.2002G>C (p.Val668Leu) c.27+2169C>G | |
| 6 | g.116120114C>T | CA365386224 | COL10A1,NT5DC1 | c.529+2169C>T (n.529+2169C>T) c.2002G>A (p.Val668Ile) c.27+2169C>T | dbSNP |
| 6 | g.116120116_116120121del | CA645555755 | COL10A1,NT5DC1 | c.529+2171_529+2176del (n.529+2171_529+2176del) c.1997_2002del (p.Glu666_Tyr667del) c.27+2171_27+2176del | COSMIC |
| 6 | g.116120115A>C | CA365386225 | COL10A1,NT5DC1 | c.529+2170A>C (n.529+2170A>C) c.2001T>G (p.Tyr667Ter) c.27+2170A>C | |
| 6 | g.116120115A>G | CA451899352 | COL10A1,NT5DC1 | c.529+2170A>G (n.529+2170A>G) c.2001T>C (p.Tyr667=) c.27+2170A>G | gnomAD v4 |
| 6 | g.116120115A>T | CA365386226 | COL10A1,NT5DC1 | c.529+2170A>T (n.529+2170A>T) c.2001T>A (p.Tyr667Ter) c.27+2170A>T | |
| 6 | g.116120116T>A | CA365386227 | COL10A1,NT5DC1 | c.529+2171T>A (n.529+2171T>A) c.2000A>T (p.Tyr667Phe) c.27+2171T>A | |
| 6 | g.116120116T>C | CA365386228 | COL10A1,NT5DC1 | c.529+2171T>C (n.529+2171T>C) c.2000A>G (p.Tyr667Cys) c.27+2171T>C | |
| 6 | g.116120116T>G | CA365386229 | COL10A1,NT5DC1 | c.529+2171T>G (n.529+2171T>G) c.2000A>C (p.Tyr667Ser) c.27+2171T>G | |
| 6 | g.116120117A>C | CA365386230 | COL10A1,NT5DC1 | c.529+2172A>C (n.529+2172A>C) c.1999T>G (p.Tyr667Asp) c.27+2172A>C | |
| 6 | g.116120117A>G | CA365386231 | COL10A1,NT5DC1 | c.529+2172A>G (n.529+2172A>G) c.1999T>C (p.Tyr667His) c.27+2172A>G | |
| 6 | g.116120117A>T | CA365386232 | COL10A1,NT5DC1 | c.529+2172A>T (n.529+2172A>T) c.1999T>A (p.Tyr667Asn) c.27+2172A>T | |
| 6 | g.116120118_116120121del | CA2695206882 | COL10A1,NT5DC1 | c.529+2173_529+2176del (n.529+2173_529+2176del) c.1996_1999del (p.Glu666MetfsTer10) c.27+2173_27+2176del | |
| 6 | g.116120118C>A | CA365386233 | COL10A1,NT5DC1 | c.529+2173C>A (n.529+2173C>A) c.1998G>T (p.Glu666Asp) c.27+2173C>A | |
| 6 | g.116120118C>G | CA365386234 | COL10A1,NT5DC1 | c.529+2173C>G (n.529+2173C>G) c.1998G>C (p.Glu666Asp) c.27+2173C>G | |
| 6 | g.116120118C>T | CA451899353 | COL10A1,NT5DC1 | c.529+2173C>T (n.529+2173C>T) c.1998G>A (p.Glu666=) c.27+2173C>T | |
| 6 | g.116120119T>A | CA365386235 | COL10A1,NT5DC1 | c.529+2174T>A (n.529+2174T>A) c.1997A>T (p.Glu666Val) c.27+2174T>A | |
| 6 | g.116120119T>C | CA365386236 | COL10A1,NT5DC1 | c.529+2174T>C (n.529+2174T>C) c.1997A>G (p.Glu666Gly) c.27+2174T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.116120119T>G | CA365386237 | COL10A1,NT5DC1 | c.529+2174T>G (n.529+2174T>G) c.1997A>C (p.Glu666Ala) c.27+2174T>G | |
| 6 | g.116120119T= | CA1657093186 | COL10A1,NT5DC1 | c.529+2174T= (n.529+2174T=) c.1997A= (p.Glu666=) c.27+2174T= | |
| 6 | g.116120120C>A | CA365386239 | COL10A1,NT5DC1 | c.529+2175C>A (n.529+2175C>A) c.1996G>T (p.Glu666Ter) c.27+2175C>A | ClinVar dbSNP |
| 6 | g.116120120C>G | CA365386240 | COL10A1,NT5DC1 | c.529+2175C>G (n.529+2175C>G) c.1996G>C (p.Glu666Gln) c.27+2175C>G | dbSNP |
| 6 | g.116120120C>T | CA365386238 | COL10A1,NT5DC1 | c.529+2175C>T (n.529+2175C>T) c.1996G>A (p.Glu666Lys) c.27+2175C>T | |
| 6 | g.116120120_116120122delinsCAG | CA1657093187 | COL10A1,NT5DC1 | c.529+2175_529+2177delinsCAG (n.529+2175_529+2177delinsCAG) c.1994_1996delinsCTG (p.Ser665=) c.27+2175_27+2177delinsCAG | |
| 6 | g.116120121A= | CA1657093188 | COL10A1,NT5DC1 | c.529+2176A= (n.529+2176A=) c.1995T= (p.Ser665=) c.27+2176A= | |
| 6 | g.116120121A>C | CA451899354 | COL10A1,NT5DC1 | c.529+2176A>C (n.529+2176A>C) c.1995T>G (p.Ser665=) c.27+2176A>C | |
| 6 | g.116120121A>G | CA451899355 | COL10A1,NT5DC1 | c.529+2176A>G (n.529+2176A>G) c.1995T>C (p.Ser665=) c.27+2176A>G | gnomAD v4 |
| 6 | g.116120121A>T | CA3968079 | COL10A1,NT5DC1 | c.529+2176A>T (n.529+2176A>T) c.1995T>A (p.Ser665=) c.27+2176A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120121dup | CA2580074792 | COL10A1,NT5DC1 | c.529+2176dup (n.529+2176dup) c.1995dup (p.Glu666Ter) c.27+2176dup | ClinVar |
| 6 | g.116120123_116120124del | CA1657093189 | COL10A1,NT5DC1 | c.529+2178_529+2179del (n.529+2178_529+2179del) c.1994_1995del (p.Ser665Ter) c.27+2178_27+2179del | ClinVar dbSNP |
| 6 | g.116120122G>A | CA3968080 | COL10A1,NT5DC1 | c.529+2177G>A (n.529+2177G>A) c.1994C>T (p.Ser665Phe) c.27+2177G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120122G>C | CA365386241 | COL10A1,NT5DC1 | c.529+2177G>C (n.529+2177G>C) c.1994C>G (p.Ser665Cys) c.27+2177G>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120122G= | CA1657093190 | COL10A1,NT5DC1 | c.529+2177G= (n.529+2177G=) c.1994C= (p.Ser665=) c.27+2177G= | |
| 6 | g.116120122G>T | CA365386242 | COL10A1,NT5DC1 | c.529+2177G>T (n.529+2177G>T) c.1994C>A (p.Ser665Tyr) c.27+2177G>T | |
| 6 | g.116120123A>C | CA365386243 | COL10A1,NT5DC1 | c.529+2178A>C (n.529+2178A>C) c.1993T>G (p.Ser665Ala) c.27+2178A>C | |
| 6 | g.116120123A>G | CA365386244 | COL10A1,NT5DC1 | c.529+2178A>G (n.529+2178A>G) c.1993T>C (p.Ser665Pro) c.27+2178A>G | |
| 6 | g.116120123A>T | CA365386245 | COL10A1,NT5DC1 | c.529+2178A>T (n.529+2178A>T) c.1993T>A (p.Ser665Thr) c.27+2178A>T | |
| 6 | g.116120124G>A | CA451899356 | COL10A1,NT5DC1 | c.529+2179G>A (n.529+2179G>A) c.1992C>T (p.Ser664=) c.27+2179G>A | dbSNP |
| 6 | g.116120124G>C | CA451899357 | COL10A1,NT5DC1 | c.529+2179G>C (n.529+2179G>C) c.1992C>G (p.Ser664=) c.27+2179G>C | |
| 6 | g.116120124G= | CA1657093191 | COL10A1,NT5DC1 | c.529+2179G= (n.529+2179G=) c.1992C= (p.Ser664=) c.27+2179G= | |
| 6 | g.116120124G>T | CA451899358 | COL10A1,NT5DC1 | c.529+2179G>T (n.529+2179G>T) c.1992C>A (p.Ser664=) c.27+2179G>T | |
| 6 | g.116120125G>A | CA365386246 | COL10A1,NT5DC1 | c.529+2180G>A (n.529+2180G>A) c.1991C>T (p.Ser664Phe) c.27+2180G>A | |
| 6 | g.116120125G>C | CA365386247 | COL10A1,NT5DC1 | c.529+2180G>C (n.529+2180G>C) c.1991C>G (p.Ser664Cys) c.27+2180G>C | |
| 6 | g.116120125G>T | CA365386248 | COL10A1,NT5DC1 | c.529+2180G>T (n.529+2180G>T) c.1991C>A (p.Ser664Tyr) c.27+2180G>T | COSMIC |
| 6 | g.116120126_116120127del | CA2739266045 | COL10A1,NT5DC1 | c.529+2181_529+2182del (n.529+2181_529+2182del) c.1990_1991del (p.Ser664LeufsTer2) c.27+2181_27+2182del | ClinVar |
| 6 | g.116120126A= | CA1657093192 | COL10A1,NT5DC1 | c.529+2181A= (n.529+2181A=) c.1990T= (p.Ser664=) c.27+2181A= | |
| 6 | g.116120126A>C | CA365386249 | COL10A1,NT5DC1 | c.529+2181A>C (n.529+2181A>C) c.1990T>G (p.Ser664Ala) c.27+2181A>C | |
| 6 | g.116120126A>G | CA3968081 | COL10A1,NT5DC1 | c.529+2181A>G (n.529+2181A>G) c.1990T>C (p.Ser664Pro) c.27+2181A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120126A>T | CA365386250 | COL10A1,NT5DC1 | c.529+2181A>T (n.529+2181A>T) c.1990T>A (p.Ser664Thr) c.27+2181A>T | |
| 6 | g.116120127G>A | CA451899359 | COL10A1,NT5DC1 | c.529+2182G>A (n.529+2182G>A) c.1989C>T (p.Tyr663=) c.27+2182G>A | |
| 6 | g.116120127G>C | CA365386252 | COL10A1,NT5DC1 | c.529+2182G>C (n.529+2182G>C) c.1989C>G (p.Tyr663Ter) c.27+2182G>C | ClinVar dbSNP |
| 6 | g.116120127G>T | CA365386251 | COL10A1,NT5DC1 | c.529+2182G>T (n.529+2182G>T) c.1989C>A (p.Tyr663Ter) c.27+2182G>T | ClinVar dbSNP |
| 6 | g.116120128T>A | CA365386253 | COL10A1,NT5DC1 | c.529+2183T>A (n.529+2183T>A) c.1988A>T (p.Tyr663Phe) c.27+2183T>A | |
| 6 | g.116120128T>C | CA365386254 | COL10A1,NT5DC1 | c.529+2183T>C (n.529+2183T>C) c.1988A>G (p.Tyr663Cys) c.27+2183T>C | |
| 6 | g.116120128T>G | CA365386255 | COL10A1,NT5DC1 | c.529+2183T>G (n.529+2183T>G) c.1988A>C (p.Tyr663Ser) c.27+2183T>G | |
| 6 | g.116120129A>C | CA365386256 | COL10A1,NT5DC1 | c.529+2184A>C (n.529+2184A>C) c.1987T>G (p.Tyr663Asp) c.27+2184A>C | |
| 6 | g.116120129A>G | CA365386257 | COL10A1,NT5DC1 | c.529+2184A>G (n.529+2184A>G) c.1987T>C (p.Tyr663His) c.27+2184A>G | COSMIC |
| 6 | g.116120129A>T | CA365386258 | COL10A1,NT5DC1 | c.529+2184A>T (n.529+2184A>T) c.1987T>A (p.Tyr663Asn) c.27+2184A>T | |
| 6 | g.116120130T>A | CA451899360 | COL10A1,NT5DC1 | c.529+2185T>A (n.529+2185T>A) c.1986A>T (p.Leu662=) c.27+2185T>A | |
| 6 | g.116120130T>C | CA145908120 | COL10A1,NT5DC1 | c.529+2185T>C (n.529+2185T>C) c.1986A>G (p.Leu662=) c.27+2185T>C | dbSNP gnomAD v4 |
| 6 | g.116120130T>G | CA451899361 | COL10A1,NT5DC1 | c.529+2185T>G (n.529+2185T>G) c.1986A>C (p.Leu662=) c.27+2185T>G | |
| 6 | g.116120130T= | CA1657093193 | COL10A1,NT5DC1 | c.529+2185T= (n.529+2185T=) c.1986A= (p.Leu662=) c.27+2185T= | |
| 6 | g.116120131A>C | CA365386259 | COL10A1,NT5DC1 | c.529+2186A>C (n.529+2186A>C) c.1985T>G (p.Leu662Arg) c.27+2186A>C | |
| 6 | g.116120131A>G | CA365386260 | COL10A1,NT5DC1 | c.529+2186A>G (n.529+2186A>G) c.1985T>C (p.Leu662Pro) c.27+2186A>G | |
| 6 | g.116120131A>T | CA365386261 | COL10A1,NT5DC1 | c.529+2186A>T (n.529+2186A>T) c.1985T>A (p.Leu662Gln) c.27+2186A>T |