Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.116130843_116130848delinsCAAAAT | CA1657098080 | COL10A1,NT5DC1 | c.529+12898_529+12903delinsCAAAAT (n.529+12898_529+12903delinsCAAAAT) c.-15-5341_-15-5336delinsATTTTG (n.-15-5341_-15-5336delinsATTTTG) c.27+12898_27+12903delinsCAAAAT | |
6 | g.116130844A= | CA1657098081 | COL10A1,NT5DC1 | c.529+12899A= (n.529+12899A=) c.-15-5337T= (n.-15-5337T=) c.27+12899A= | |
6 | g.116130844A>G | CA817661285 | COL10A1,NT5DC1 | c.529+12899A>G (n.529+12899A>G) c.-15-5337T>C (n.-15-5337T>C) c.27+12899A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130848_116130852del | CA817661284 | COL10A1,NT5DC1 | c.529+12903_529+12907del (n.529+12903_529+12907del) c.-15-5341_-15-5337del (n.-15-5341_-15-5337del) c.27+12903_27+12907del | dbSNP |
6 | g.116130850A= | CA1657098082 | COL10A1,NT5DC1 | c.529+12905A= (n.529+12905A=) c.-15-5343T= (n.-15-5343T=) c.27+12905A= | |
6 | g.116130850A>G | CA1657098083 | COL10A1,NT5DC1 | c.529+12905A>G (n.529+12905A>G) c.-15-5343T>C (n.-15-5343T>C) c.27+12905A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130864C= | CA1657098084 | COL10A1,NT5DC1 | c.529+12919C= (n.529+12919C=) c.-15-5357G= (n.-15-5357G=) c.27+12919C= | |
6 | g.116130864C>G | CA1657098085 | COL10A1,NT5DC1 | c.529+12919C>G (n.529+12919C>G) c.-15-5357G>C (n.-15-5357G>C) c.27+12919C>G | dbSNP |
6 | g.116130864C>T | CA817661286 | COL10A1,NT5DC1 | c.529+12919C>T (n.529+12919C>T) c.-15-5357G>A (n.-15-5357G>A) c.27+12919C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130865G>A | CA145915422 | COL10A1,NT5DC1 | c.529+12920G>A (n.529+12920G>A) c.-15-5358C>T (n.-15-5358C>T) c.27+12920G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130865G>C | CA145915424 | COL10A1,NT5DC1 | c.529+12920G>C (n.529+12920G>C) c.-15-5358C>G (n.-15-5358C>G) c.27+12920G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130865G= | CA1657098086 | COL10A1,NT5DC1 | c.529+12920G= (n.529+12920G=) c.-15-5358C= (n.-15-5358C=) c.27+12920G= | |
6 | g.116130867A= | CA1657098087 | COL10A1,NT5DC1 | c.529+12922A= (n.529+12922A=) c.-15-5360T= (n.-15-5360T=) c.27+12922A= | |
6 | g.116130867A>G | CA1093493362 | COL10A1,NT5DC1 | c.529+12922A>G (n.529+12922A>G) c.-15-5360T>C (n.-15-5360T>C) c.27+12922A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130871G= | CA1657098088 | COL10A1,NT5DC1 | c.529+12926G= (n.529+12926G=) c.-15-5364C= (n.-15-5364C=) c.27+12926G= | |
6 | g.116130871G>T | CA569682538 | COL10A1,NT5DC1 | c.529+12926G>T (n.529+12926G>T) c.-15-5364C>A (n.-15-5364C>A) c.27+12926G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130874T>C | CA1657098090 | COL10A1,NT5DC1 | c.529+12929T>C (n.529+12929T>C) c.-15-5367A>G (n.-15-5367A>G) c.27+12929T>C | dbSNP |
6 | g.116130874T>G | CA569682539 | COL10A1,NT5DC1 | c.529+12929T>G (n.529+12929T>G) c.-15-5367A>C (n.-15-5367A>C) c.27+12929T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130874T= | CA1657098089 | COL10A1,NT5DC1 | c.529+12929T= (n.529+12929T=) c.-15-5367A= (n.-15-5367A=) c.27+12929T= | |
6 | g.116130876T>A | CA145915427 | COL10A1,NT5DC1 | c.529+12931T>A (n.529+12931T>A) c.-15-5369A>T (n.-15-5369A>T) c.27+12931T>A | dbSNP |
6 | g.116130876T>C | CA1657098091 | COL10A1,NT5DC1 | c.529+12931T>C (n.529+12931T>C) c.-15-5369A>G (n.-15-5369A>G) c.27+12931T>C | dbSNP |
6 | g.116130876T= | CA1657098092 | COL10A1,NT5DC1 | c.529+12931T= (n.529+12931T=) c.-15-5369A= (n.-15-5369A=) c.27+12931T= | |
6 | g.116130878_116130879delinsGA | CA1657098093 | COL10A1,NT5DC1 | c.529+12933_529+12934delinsGA (n.529+12933_529+12934delinsGA) c.-15-5372_-15-5371delinsTC (n.-15-5372_-15-5371delinsTC) c.27+12933_27+12934delinsGA | |
6 | g.116130886dup | CA145915430 | COL10A1,NT5DC1 | c.529+12941dup (n.529+12941dup) c.-15-5372dup (n.-15-5372dup) c.27+12941dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130886del | CA817661289 | COL10A1,NT5DC1 | c.529+12941del (n.529+12941del) c.-15-5372del (n.-15-5372del) c.27+12941del | dbSNP |
6 | g.116130882A>G | CA2537367496 | COL10A1,NT5DC1 | c.529+12937A>G (n.529+12937A>G) c.-15-5375T>C (n.-15-5375T>C) c.27+12937A>G | |
6 | g.116130885A= | CA1657098094 | COL10A1,NT5DC1 | c.529+12940A= (n.529+12940A=) c.-15-5378T= (n.-15-5378T=) c.27+12940A= | |
6 | g.116130885A>G | CA817661292 | COL10A1,NT5DC1 | c.529+12940A>G (n.529+12940A>G) c.-15-5378T>C (n.-15-5378T>C) c.27+12940A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130885A>T | CA145915435 | COL10A1,NT5DC1 | c.529+12940A>T (n.529+12940A>T) c.-15-5378T>A (n.-15-5378T>A) c.27+12940A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130886_116130887delinsAT | CA1657098095 | COL10A1,NT5DC1 | c.529+12941_529+12942delinsAT (n.529+12941_529+12942delinsAT) c.-15-5380_-15-5379delinsAT (n.-15-5380_-15-5379delinsAT) c.27+12941_27+12942delinsAT | |
6 | g.116130887del | CA569682540 | COL10A1,NT5DC1 | c.529+12942del (n.529+12942del) c.-15-5380del (n.-15-5380del) c.27+12942del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130887T>C | CA1657098096 | COL10A1,NT5DC1 | c.529+12942T>C (n.529+12942T>C) c.-15-5380A>G (n.-15-5380A>G) c.27+12942T>C | dbSNP |
6 | g.116130887T= | CA1657098097 | COL10A1,NT5DC1 | c.529+12942T= (n.529+12942T=) c.-15-5380A= (n.-15-5380A=) c.27+12942T= | |
6 | g.116130889T>C | CA145915439 | COL10A1,NT5DC1 | c.529+12944T>C (n.529+12944T>C) c.-15-5382A>G (n.-15-5382A>G) c.27+12944T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130889T= | CA1657098098 | COL10A1,NT5DC1 | c.529+12944T= (n.529+12944T=) c.-15-5382A= (n.-15-5382A=) c.27+12944T= | |
6 | g.116130892G>A | CA145915444 | COL10A1,NT5DC1 | c.529+12947G>A (n.529+12947G>A) c.-15-5385C>T (n.-15-5385C>T) c.27+12947G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130892G= | CA1657098099 | COL10A1,NT5DC1 | c.529+12947G= (n.529+12947G=) c.-15-5385C= (n.-15-5385C=) c.27+12947G= | |
6 | g.116130893C= | CA1657098100 | COL10A1,NT5DC1 | c.529+12948C= (n.529+12948C=) c.-15-5386G= (n.-15-5386G=) c.27+12948C= | |
6 | g.116130893C>T | CA817661298 | COL10A1,NT5DC1 | c.529+12948C>T (n.529+12948C>T) c.-15-5386G>A (n.-15-5386G>A) c.27+12948C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130894C= | CA1657098101 | COL10A1,NT5DC1 | c.529+12949C= (n.529+12949C=) c.-15-5387G= (n.-15-5387G=) c.27+12949C= | |
6 | g.116130894C>T | CA1093493383 | COL10A1,NT5DC1 | c.529+12949C>T (n.529+12949C>T) c.-15-5387G>A (n.-15-5387G>A) c.27+12949C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130895G>A | CA145915448 | COL10A1,NT5DC1 | c.529+12950G>A (n.529+12950G>A) c.-15-5388C>T (n.-15-5388C>T) c.27+12950G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130895G>C | CA569682544 | COL10A1,NT5DC1 | c.529+12950G>C (n.529+12950G>C) c.-15-5388C>G (n.-15-5388C>G) c.27+12950G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130895G= | CA1657098102 | COL10A1,NT5DC1 | c.529+12950G= (n.529+12950G=) c.-15-5388C= (n.-15-5388C=) c.27+12950G= | |
6 | g.116130898dup | CA1657098103 | COL10A1,NT5DC1 | c.529+12953dup (n.529+12953dup) c.-15-5389dup (n.-15-5389dup) c.27+12953dup | dbSNP |
6 | g.116130900_116130901delinsAT | CA1657098104 | COL10A1,NT5DC1 | c.529+12955_529+12956delinsAT (n.529+12955_529+12956delinsAT) c.-15-5394_-15-5393delinsAT (n.-15-5394_-15-5393delinsAT) c.27+12955_27+12956delinsAT | |
6 | g.116130902del | CA817661301 | COL10A1,NT5DC1 | c.529+12957del (n.529+12957del) c.-15-5394del (n.-15-5394del) c.27+12957del | dbSNP |
6 | g.116130904T>C | CA1657098106 | COL10A1,NT5DC1 | c.529+12959T>C (n.529+12959T>C) c.-15-5397A>G (n.-15-5397A>G) c.27+12959T>C | dbSNP |
6 | g.116130904T= | CA1657098105 | COL10A1,NT5DC1 | c.529+12959T= (n.529+12959T=) c.-15-5397A= (n.-15-5397A=) c.27+12959T= | |
6 | g.116130905_116130906delinsGT | CA1657098107 | COL10A1,NT5DC1 | c.529+12960_529+12961delinsGT (n.529+12960_529+12961delinsGT) c.-15-5399_-15-5398delinsAC (n.-15-5399_-15-5398delinsAC) c.27+12960_27+12961delinsGT | |
6 | g.116130908del | CA1657098108 | COL10A1,NT5DC1 | c.529+12963del (n.529+12963del) c.-15-5399del (n.-15-5399del) c.27+12963del | dbSNP |
6 | g.116130907T>C | CA145915453 | COL10A1,NT5DC1 | c.529+12962T>C (n.529+12962T>C) c.-15-5400A>G (n.-15-5400A>G) c.27+12962T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130907T= | CA1657098109 | COL10A1,NT5DC1 | c.529+12962T= (n.529+12962T=) c.-15-5400A= (n.-15-5400A=) c.27+12962T= | |
6 | g.116130912A= | CA1657098111 | COL10A1,NT5DC1 | c.529+12967A= (n.529+12967A=) c.-15-5405T= (n.-15-5405T=) c.27+12967A= | |
6 | g.116130912A>G | CA145915459 | COL10A1,NT5DC1 | c.529+12967A>G (n.529+12967A>G) c.-15-5405T>C (n.-15-5405T>C) c.27+12967A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130912_116130915delinsATTC | CA1657098110 | COL10A1,NT5DC1 | c.529+12967_529+12970delinsATTC (n.529+12967_529+12970delinsATTC) c.-15-5408_-15-5405delinsGAAT (n.-15-5408_-15-5405delinsGAAT) c.27+12967_27+12970delinsATTC | |
6 | g.116130915_116130917del | CA145915463 | COL10A1,NT5DC1 | c.529+12970_529+12972del (n.529+12970_529+12972del) c.-15-5408_-15-5406del (n.-15-5408_-15-5406del) c.27+12970_27+12972del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130918T>A | CA145915467 | COL10A1,NT5DC1 | c.529+12973T>A (n.529+12973T>A) c.-15-5411A>T (n.-15-5411A>T) c.27+12973T>A | dbSNP |
6 | g.116130918T= | CA1657098112 | COL10A1,NT5DC1 | c.529+12973T= (n.529+12973T=) c.-15-5411A= (n.-15-5411A=) c.27+12973T= | |
6 | g.116130919T>C | CA1657098113 | COL10A1,NT5DC1 | c.529+12974T>C (n.529+12974T>C) c.-15-5412A>G (n.-15-5412A>G) c.27+12974T>C | dbSNP |
6 | g.116130919T>G | CA145915472 | COL10A1,NT5DC1 | c.529+12974T>G (n.529+12974T>G) c.-15-5412A>C (n.-15-5412A>C) c.27+12974T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130919T= | CA1657098114 | COL10A1,NT5DC1 | c.529+12974T= (n.529+12974T=) c.-15-5412A= (n.-15-5412A=) c.27+12974T= | |
6 | g.116130921G>A | CA145915479 | COL10A1,NT5DC1 | c.529+12976G>A (n.529+12976G>A) c.-15-5414C>T (n.-15-5414C>T) c.27+12976G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130921G= | CA1657098115 | COL10A1,NT5DC1 | c.529+12976G= (n.529+12976G=) c.-15-5414C= (n.-15-5414C=) c.27+12976G= | |
6 | g.116130923A>G | CA2772729859 | COL10A1,NT5DC1 | c.529+12978A>G (n.529+12978A>G) c.-15-5416T>C (n.-15-5416T>C) c.27+12978A>G | |
6 | g.116130928C= | CA1657098116 | COL10A1,NT5DC1 | c.529+12983C= (n.529+12983C=) c.-15-5421G= (n.-15-5421G=) c.27+12983C= | |
6 | g.116130928C>T | CA1657098117 | COL10A1,NT5DC1 | c.529+12983C>T (n.529+12983C>T) c.-15-5421G>A (n.-15-5421G>A) c.27+12983C>T | dbSNP |
6 | g.116130929A= | CA1657098118 | COL10A1,NT5DC1 | c.529+12984A= (n.529+12984A=) c.-15-5422T= (n.-15-5422T=) c.27+12984A= | |
6 | g.116130929A>G | CA1093493398 | COL10A1,NT5DC1 | c.529+12984A>G (n.529+12984A>G) c.-15-5422T>C (n.-15-5422T>C) c.27+12984A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130930C= | CA1657098119 | COL10A1,NT5DC1 | c.529+12985C= (n.529+12985C=) c.-15-5423G= (n.-15-5423G=) c.27+12985C= | |
6 | g.116130930C>G | CA817661311 | COL10A1,NT5DC1 | c.529+12985C>G (n.529+12985C>G) c.-15-5423G>C (n.-15-5423G>C) c.27+12985C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130935G>A | CA1657098121 | COL10A1,NT5DC1 | c.529+12990G>A (n.529+12990G>A) c.-15-5428C>T (n.-15-5428C>T) c.27+12990G>A | dbSNP |
6 | g.116130935G= | CA1657098120 | COL10A1,NT5DC1 | c.529+12990G= (n.529+12990G=) c.-15-5428C= (n.-15-5428C=) c.27+12990G= | |
6 | g.116130936C= | CA1657098122 | COL10A1,NT5DC1 | c.529+12991C= (n.529+12991C=) c.-15-5429G= (n.-15-5429G=) c.27+12991C= | |
6 | g.116130936C>T | CA817661312 | COL10A1,NT5DC1 | c.529+12991C>T (n.529+12991C>T) c.-15-5429G>A (n.-15-5429G>A) c.27+12991C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130940A= | CA1657098123 | COL10A1,NT5DC1 | c.529+12995A= (n.529+12995A=) c.-15-5433T= (n.-15-5433T=) c.27+12995A= | |
6 | g.116130940A>G | CA145915481 | COL10A1,NT5DC1 | c.529+12995A>G (n.529+12995A>G) c.-15-5433T>C (n.-15-5433T>C) c.27+12995A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116130940_116130941delinsAT | CA1657098124 | COL10A1,NT5DC1 | c.529+12995_529+12996delinsAT (n.529+12995_529+12996delinsAT) c.-15-5434_-15-5433delinsAT (n.-15-5434_-15-5433delinsAT) c.27+12995_27+12996delinsAT | |
6 | g.116130942del | CA1657098125 | COL10A1,NT5DC1 | c.529+12997del (n.529+12997del) c.-15-5434del (n.-15-5434del) c.27+12997del | dbSNP |
6 | g.116130943A= | CA1657098126 | COL10A1,NT5DC1 | c.529+12998A= (n.529+12998A=) c.-15-5436T= (n.-15-5436T=) c.27+12998A= | |
6 | g.116130943A>G | CA1093493405 | COL10A1,NT5DC1 | c.529+12998A>G (n.529+12998A>G) c.-15-5436T>C (n.-15-5436T>C) c.27+12998A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116130943_116130948delinsACTGTG | CA1657098127 | COL10A1,NT5DC1 | c.529+12998_529+13003delinsACTGTG (n.529+12998_529+13003delinsACTGTG) c.-15-5441_-15-5436delinsCACAGT (n.-15-5441_-15-5436delinsCACAGT) c.27+12998_27+13003delinsACTGTG |