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.47973035A>C | CA2795861022 | COL2A1 | c.*372T>G (n.*372T>G)
| |
12 | g.47973035A>G | CA2795861023 | COL2A1 | c.*372T>C (n.*372T>C)
| |
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=)
| |
12 | g.47973046A>G | CA689461351 | COL2A1 | c.*361T>C (n.*361T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973047T>A | CA2795861024 | COL2A1 | c.*360A>T (n.*360A>T)
| |
12 | g.47973047T>C | CA689461352 | COL2A1 | c.*360A>G (n.*360A>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973047T= | CA2034470110 | COL2A1 | c.*360A= (n.*360A=)
| |
12 | g.47973048T>C | CA2034470113 | COL2A1 | c.*359A>G (n.*359A>G)
| dbSNP gnomAD v4 |
12 | g.47973048T= | CA2034470112 | COL2A1 | c.*359A= (n.*359A=)
| |
12 | g.47973049G>T | CA2618501347 | COL2A1 | c.*358C>A (n.*358C>A)
| gnomAD v4 |
12 | g.47973050T>G | CA2618501350 | COL2A1 | c.*357A>C (n.*357A>C)
| gnomAD v4 |
12 | g.47973051G>A | CA2618501353 | COL2A1 | c.*356C>T (n.*356C>T)
| gnomAD v4 |
12 | g.47973053A>G | CA2562964852 | COL2A1 | c.*354T>C (n.*354T>C)
| gnomAD v4 |
12 | g.47973054G>A | CA2034470116 | COL2A1 | c.*353C>T (n.*353C>T)
| dbSNP gnomAD v4 |
12 | g.47973054G= | CA2034470115 | COL2A1 | c.*353C= (n.*353C=)
| |
12 | g.47973054G>T | CA2618501357 | COL2A1 | c.*353C>A (n.*353C>A)
| gnomAD v4 |
12 | g.47973055G>T | CA2618501359 | COL2A1 | c.*352C>A (n.*352C>A)
| gnomAD v4 |
12 | g.47973055_47973059delinsGACAC | CA2034470118 | COL2A1 | c.*348_*352delinsGTGTC (n.*348_*352delinsGTGTC)
| |
12 | g.47973063_47973064del | CA2618501365 | COL2A1 | c.*350_*351del (n.*350_*351del)
| gnomAD v4 |
12 | g.47973061_47973064del | CA2034470119 | COL2A1 | c.*348_*351del (n.*348_*351del)
| dbSNP |
12 | g.47973057C>A | CA236515269 | COL2A1 | c.*350G>T (n.*350G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973057C= | CA2034470121 | COL2A1 | c.*350G= (n.*350G=)
| |
12 | g.47973059C>T | CA2795861025 | COL2A1 | c.*348G>A (n.*348G>A)
| |
12 | g.47973061C>A | CA2618501374 | COL2A1 | c.*346G>T (n.*346G>T)
| gnomAD v4 |
12 | g.47973061C= | CA2034470122 | COL2A1 | c.*346G= (n.*346G=)
| |
12 | g.47973061_47973062insTGTGTGT | CA2034470124 | COL2A1 | c.*345_*346insACACACA (n.*345_*346insACACACA)
| dbSNP |
12 | g.47973071G>A | CA689461358 | COL2A1 | c.*336C>T (n.*336C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973071G= | CA2034470126 | COL2A1 | c.*336C= (n.*336C=)
| |
12 | g.47973071G>T | CA2618501379 | COL2A1 | c.*336C>A (n.*336C>A)
| gnomAD v4 |
12 | g.47973072C>A | CA2618501385 | COL2A1 | c.*335G>T (n.*335G>T)
| gnomAD v4 |
12 | g.47973072C= | CA2034470129 | COL2A1 | c.*335G= (n.*335G=)
| |
12 | g.47973072C>T | CA479449192 | COL2A1 | c.*335G>A (n.*335G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973073G>A | CA947350126 | COL2A1 | c.*334C>T (n.*334C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973073G>C | CA689461362 | COL2A1 | c.*334C>G (n.*334C>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973073G= | CA2034470131 | COL2A1 | c.*334C= (n.*334C=)
| |
12 | g.47973073G>T | CA2618501389 | COL2A1 | c.*334C>A (n.*334C>A)
| gnomAD v4 |
12 | g.47973074C>A | CA2618501391 | COL2A1 | c.*333G>T (n.*333G>T)
| gnomAD v4 |
12 | g.47973075C>A | CA2618501393 | COL2A1 | c.*332G>T (n.*332G>T)
| gnomAD v4 |
12 | g.47973075C>T | CA2618501394 | COL2A1 | c.*332G>A (n.*332G>A)
| gnomAD v4 |
12 | g.47973076C>A | CA2618501398 | COL2A1 | c.*331G>T (n.*331G>T)
| gnomAD v4 |
12 | g.47973076C= | CA2034470135 | COL2A1 | c.*331G= (n.*331G=)
| |
12 | g.47973076C>T | CA689461365 | COL2A1 | c.*331G>A (n.*331G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973077G>A | CA236515276 | COL2A1 | c.*330C>T (n.*330C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973077G= | CA2034470140 | COL2A1 | c.*330C= (n.*330C=)
| |
12 | g.47973077G>T | CA689461367 | COL2A1 | c.*330C>A (n.*330C>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973078G>A | CA2618501416 | COL2A1 | c.*329C>T (n.*329C>T)
| gnomAD v4 |
12 | g.47973078G>T | CA2618501417 | COL2A1 | c.*329C>A (n.*329C>A)
| gnomAD v4 |
12 | g.47973079C>A | CA2540149934 | COL2A1 | c.*328G>T (n.*328G>T)
| |
12 | g.47973079C>T | CA2618501418 | COL2A1 | c.*328G>A (n.*328G>A)
| gnomAD v4 |
12 | g.47973080A>G | CA2618501420 | COL2A1 | c.*327T>C (n.*327T>C)
| gnomAD v4 |
12 | g.47973082C>G | CA2618501421 | COL2A1 | c.*325G>C (n.*325G>C)
| gnomAD v4 |
12 | g.47973082C>T | CA2525745264 | COL2A1 | c.*325G>A (n.*325G>A)
| |
12 | g.47973083T>C | CA947350131 | COL2A1 | c.*324A>G (n.*324A>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973083T= | CA2034470143 | COL2A1 | c.*324A= (n.*324A=)
| |
12 | g.47973084G>T | CA2618501422 | COL2A1 | c.*323C>A (n.*323C>A)
| gnomAD v4 |
12 | g.47973086A= | CA2034470144 | COL2A1 | c.*321T= (n.*321T=)
| |
12 | g.47973086A>G | CA236515293 | COL2A1 | c.*321T>C (n.*321T>C)
| dbSNP |
12 | g.47973087G= | CA2034470145 | COL2A1 | c.*320C= (n.*320C=)
| |
12 | g.47973087G>T | CA604847671 | COL2A1 | c.*320C>A (n.*320C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973088G>A | CA2034470148 | COL2A1 | c.*319C>T (n.*319C>T)
| dbSNP |
12 | g.47973088G= | CA2034470147 | COL2A1 | c.*319C= (n.*319C=)
| |
12 | g.47973088G>T | CA2618501423 | COL2A1 | c.*319C>A (n.*319C>A)
| gnomAD v4 |
12 | g.47973089G>A | CA2034470150 | COL2A1 | c.*318C>T (n.*318C>T)
| dbSNP |
12 | g.47973089G= | CA2034470149 | COL2A1 | c.*318C= (n.*318C=)
| |
12 | g.47973089G>T | CA2618501424 | COL2A1 | c.*318C>A (n.*318C>A)
| gnomAD v4 |
12 | g.47973090A>G | CA2618501425 | COL2A1 | c.*317T>C (n.*317T>C)
| gnomAD v4 |
12 | g.47973091G>A | CA2618501427 | COL2A1 | c.*316C>T (n.*316C>T)
| gnomAD v4 |
12 | g.47973091G>T | CA2618501428 | COL2A1 | c.*316C>A (n.*316C>A)
| gnomAD v4 |
12 | g.47973092G>A | CA236515296 | COL2A1 | c.*315C>T (n.*315C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973092G= | CA2034470151 | COL2A1 | c.*315C= (n.*315C=)
| |
12 | g.47973092G>T | CA2034470152 | COL2A1 | c.*315C>A (n.*315C>A)
| dbSNP gnomAD v4 |
12 | g.47973092_47973093insGCGGT | CA2034470154 | COL2A1 | c.*314_*315insACCGC (n.*314_*315insACCGC)
| dbSNP |
12 | g.47973093T>G | CA2618501437 | COL2A1 | c.*314A>C (n.*314A>C)
| gnomAD v4 |
12 | g.47973096_47973098del | CA2618501436 | COL2A1 | c.*312_*314del (n.*312_*314del)
| gnomAD v4 |
12 | g.47973094C= | CA2034470157 | COL2A1 | c.*313G= (n.*313G=)
| |
12 | g.47973094C>G | CA689461374 | COL2A1 | c.*313G>C (n.*313G>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973094C>T | CA689461376 | COL2A1 | c.*313G>A (n.*313G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973094_47973095delinsCT | CA2034470155 | COL2A1 | c.*312_*313delinsAG (n.*312_*313delinsAG)
| |
12 | g.47973095T>A | CA2618501438 | COL2A1 | c.*312A>T (n.*312A>T)
| gnomAD v4 |
12 | g.47973096del | CA2034470158 | COL2A1 | c.*312del (n.*312del)
| dbSNP |
12 | g.47973096T>G | CA2548717817 | COL2A1 | c.*311A>C (n.*311A>C)
| gnomAD v4 |
12 | g.47973097C>A | CA2618501442 | COL2A1 | c.*310G>T (n.*310G>T)
| gnomAD v4 |
12 | g.47973098T>C | CA2618501444 | COL2A1 | c.*309A>G (n.*309A>G)
| gnomAD v4 |
12 | g.47973099G>T | CA2618501445 | COL2A1 | c.*308C>A (n.*308C>A)
| gnomAD v4 |
12 | g.47973099_47973100insTGACCGGTACTCGATAACA | CA2618501447 | COL2A1 | c.*307_*308insTGTTATCGAGTACCGGTCA (n.*307_*308insTGTTATCGAGTACCGGTCA)
| gnomAD v4 |
12 | g.47973100G= | CA2034470161 | COL2A1 | c.*307C= (n.*307C=)
| |
12 | g.47973100G>T | CA689461386 | COL2A1 | c.*307C>A (n.*307C>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973101C>A | CA2618501455 | COL2A1 | c.*306G>T (n.*306G>T)
| gnomAD v4 |
12 | g.47973101C>T | CA2618501463 | COL2A1 | c.*306G>A (n.*306G>A)
| gnomAD v4 |
12 | g.47973102C>A | CA2618501470 | COL2A1 | c.*305G>T (n.*305G>T)
| gnomAD v4 |
12 | g.47973102C= | CA2034470164 | COL2A1 | c.*305G= (n.*305G=)
| |
12 | g.47973102C>T | CA10642340 | COL2A1 | c.*305G>A (n.*305G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.47973103T>C | CA2618501483 | COL2A1 | c.*304A>G (n.*304A>G)
| gnomAD v4 |
12 | g.47973104G>C | CA2618501491 | COL2A1 | c.*303C>G (n.*303C>G)
| gnomAD v4 |
12 | g.47973104G>T | CA2618501494 | COL2A1 | c.*303C>A (n.*303C>A)
| gnomAD v4 |
12 | g.47973105G>A | CA2034470172 | COL2A1 | c.*302C>T (n.*302C>T)
| dbSNP gnomAD v4 |
12 | g.47973105G= | CA2034470171 | COL2A1 | c.*302C= (n.*302C=)
| |
12 | g.47973105G>T | CA2618501505 | COL2A1 | c.*302C>A (n.*302C>A)
| gnomAD v4 |
12 | g.47973106G>T | CA2618501513 | COL2A1 | c.*301C>A (n.*301C>A)
| gnomAD v4 |
12 | g.47973107C>A | CA2618501516 | COL2A1 | c.*300G>T (n.*300G>T)
| gnomAD v4 |
12 | g.47973107C>T | CA2618501517 | COL2A1 | c.*300G>A (n.*300G>A)
| gnomAD v4 |
12 | g.47973108T>C | CA2618501520 | COL2A1 | c.*299A>G (n.*299A>G)
| gnomAD v4 |
12 | g.47973108T>G | CA2034470175 | COL2A1 | c.*299A>C (n.*299A>C)
| dbSNP |
12 | g.47973108T= | CA2034470173 | COL2A1 | c.*299A= (n.*299A=)
| |
12 | g.47973109G>T | CA2618501538 | COL2A1 | c.*298C>A (n.*298C>A)
| gnomAD v4 |
12 | g.47973113dup | CA2034470176 | COL2A1 | c.*298dup (n.*298dup)
| dbSNP |
12 | g.47973113del | CA2618501523 | COL2A1 | c.*298del (n.*298del)
| gnomAD v4 |
12 | g.47973110G>A | CA2618501542 | COL2A1 | c.*297C>T (n.*297C>T)
| gnomAD v4 |
12 | g.47973110G>T | CA2618501543 | COL2A1 | c.*297C>A (n.*297C>A)
| gnomAD v4 |
12 | g.47973111G>A | CA2618501546 | COL2A1 | c.*296C>T (n.*296C>T)
| gnomAD v4 |
12 | g.47973111G>T | CA2618501548 | COL2A1 | c.*296C>A (n.*296C>A)
| gnomAD v4 |
12 | g.47973112G>A | CA10637532 | COL2A1 | c.*295C>T (n.*295C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973112G>C | CA2581085758 | COL2A1 | c.*295C>G (n.*295C>G)
| |
12 | g.47973112G= | CA2034470179 | COL2A1 | c.*295C= (n.*295C=)
| |
12 | g.47973112G>T | CA2581085759 | COL2A1 | c.*295C>A (n.*295C>A)
| |