Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47973016dup | CA2618501208 | COL2A1 | c.*396dup (n.*396dup) | gnomAD v4 |
12 | g.47973012A= | CA2034470064 | COL2A1 | c.*395T= (n.*395T=) | |
12 | g.47973012_47973013insTTGATTATTT | CA604847663 | COL2A1 | c.*394_*395insAAATAATCAA (n.*394_*395insAAATAATCAA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973013A= | CA2034470066 | COL2A1 | c.*394T= (n.*394T=) | |
12 | g.47973014A= | CA2034470070 | COL2A1 | c.*393T= (n.*393T=) | |
12 | g.47973015_47973018dup | CA2034470069 | COL2A1 | c.*390_*393dup (n.*390_*393dup) | dbSNP |
12 | g.47973014_47973015insTC | CA604847664 | COL2A1 | c.*392_*393insGA (n.*392_*393insGA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973017T>C | CA2618501216 | COL2A1 | c.*390A>G (n.*390A>G) | gnomAD v4 |
12 | g.47973017T= | CA2034470073 | COL2A1 | c.*390A= (n.*390A=) | |
12 | g.47973017_47973018insTTTTGTTGATTAA | CA604847666 | COL2A1 | c.*389_*390insTTAATCAACAAAA (n.*389_*390insTTAATCAACAAAA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973018A>G | CA2618501221 | COL2A1 | c.*389T>C (n.*389T>C) | gnomAD v4 |
12 | g.47973018dup | CA947350100 | COL2A1 | c.*389dup (n.*389dup) | dbSNP |
12 | g.47973019C>A | CA2618501239 | COL2A1 | c.*388G>T (n.*388G>T) | gnomAD v4 |
12 | g.47973019C= | CA2034470076 | COL2A1 | c.*388G= (n.*388G=) | |
12 | g.47973019C>T | CA604847669 | COL2A1 | c.*388G>A (n.*388G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973021G>A | CA2618501244 | COL2A1 | c.*386C>T (n.*386C>T) | gnomAD v4 |
12 | g.47973021G>T | CA2618501246 | COL2A1 | c.*386C>A (n.*386C>A) | gnomAD v4 |
12 | g.47973022A= | CA2034470078 | COL2A1 | c.*385T= (n.*385T=) | |
12 | g.47973022A>C | CA947350108 | COL2A1 | c.*385T>G (n.*385T>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973023G>A | CA604847670 | COL2A1 | c.*384C>T (n.*384C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973023G= | CA2034470080 | COL2A1 | c.*384C= (n.*384C=) | |
12 | g.47973023G>T | CA2618501250 | COL2A1 | c.*384C>A (n.*384C>A) | gnomAD v4 |
12 | g.47973024G>A | CA236515246 | COL2A1 | c.*383C>T (n.*383C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973024G= | CA2034470082 | COL2A1 | c.*383C= (n.*383C=) | |
12 | g.47973024G>T | CA2618501261 | COL2A1 | c.*383C>A (n.*383C>A) | gnomAD v4 |
12 | g.47973025T>C | CA236515248 | COL2A1 | c.*382A>G (n.*382A>G) | dbSNP |
12 | g.47973025T>G | CA2618501273 | COL2A1 | c.*382A>C (n.*382A>C) | gnomAD v4 |
12 | g.47973025T= | CA2034470084 | COL2A1 | c.*382A= (n.*382A=) | |
12 | g.47973027_47973030dup | CA2618501268 | COL2A1 | c.*379_*382dup (n.*379_*382dup) | gnomAD v4 |
12 | g.47973028T>C | CA689461337 | COL2A1 | c.*379A>G (n.*379A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973028T= | CA2034470089 | COL2A1 | c.*379A= (n.*379A=) | |
12 | g.47973030G>A | CA2618501307 | COL2A1 | c.*377C>T (n.*377C>T) | gnomAD v4 |
12 | g.47973030G>T | CA2618501309 | COL2A1 | c.*377C>A (n.*377C>A) | gnomAD v4 |
12 | g.47973031A= | CA2034470092 | COL2A1 | c.*376T= (n.*376T=) | |
12 | g.47973031A>G | CA479449191 | COL2A1 | c.*376T>C (n.*376T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973032C>A | CA2618501316 | COL2A1 | c.*375G>T (n.*375G>T) | gnomAD v4 |
12 | g.47973034C>A | CA2618501324 | COL2A1 | c.*373G>T (n.*373G>T) | gnomAD v4 |
12 | g.47973034C= | CA2034470099 | COL2A1 | c.*373G= (n.*373G=) | |
12 | g.47973034C>G | CA236515261 | COL2A1 | c.*373G>C (n.*373G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973036G>A | CA2034470105 | COL2A1 | c.*371C>T (n.*371C>T) | dbSNP gnomAD v4 |
12 | g.47973036G= | CA2034470103 | COL2A1 | c.*371C= (n.*371C=) | |
12 | g.47973036G>T | CA2618501331 | COL2A1 | c.*371C>A (n.*371C>A) | gnomAD v4 |
12 | g.47973041G>A | CA2618501334 | COL2A1 | c.*366C>T (n.*366C>T) | gnomAD v4 |
12 | g.47973041G>T | CA2618501335 | COL2A1 | c.*366C>A (n.*366C>A) | gnomAD v4 |
12 | g.47973042C>A | CA2618501336 | COL2A1 | c.*365G>T (n.*365G>T) | gnomAD v4 |
12 | g.47973044C>A | CA2618501344 | COL2A1 | c.*363G>T (n.*363G>T) | gnomAD v4 |
12 | g.47973044C= | CA2034470106 | COL2A1 | c.*363G= (n.*363G=) | |
12 | g.47973044C>T | CA689461347 | COL2A1 | c.*363G>A (n.*363G>A) | dbSNP gnomAD v4 |
12 | g.47973045del | CA2618501342 | COL2A1 | c.*363del (n.*363del) | gnomAD v4 |
12 | g.47973046A= | CA2034470108 | COL2A1 | c.*361T= (n.*361T=) |