12 | g.47972946A>T | CA2726227272 | | | dbSNP |
12 | g.47972947A= | CA2034469992 | | | |
12 | g.47972947A>G | CA236515227 | | | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47972948C>A | CA2618501029 | | | gnomAD v4 |
12 | g.47972952C>A | CA604847657 | | | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47972952C= | CA2034469995 | | | |
12 | g.47972952C>T | CA2618501031 | | | gnomAD v4 |
12 | g.47972953C>A | CA2618501043 | | | gnomAD v4 |
12 | g.47972953C>T | CA2618501044 | | | gnomAD v4 |
12 | g.47972954A>G | CA2572968663 | | | |
12 | g.47972955C>A | CA2618501045 | | | gnomAD v4 |
12 | g.47972958G>T | CA2556189894 | | | |
12 | g.47972959T>C | CA2618501049 | | | gnomAD v4 |
12 | g.47972960C>A | CA2618501051 | | | gnomAD v4 |
12 | g.47972960_47972961delinsCA | CA2034469997 | | | |
12 | g.47972962del | CA689461291 | | | dbSNP |
12 | g.47972962A= | CA2034470000 | | | |
12 | g.47972962A>G | CA2034470001 | | | dbSNP gnomAD v4 |
12 | g.47972963T>C | CA2618501059 | | | gnomAD v4 |
12 | g.47972964A= | CA2034470002 | | | |
12 | g.47972964A>G | CA2034470003 | | | dbSNP gnomAD v4 |
12 | g.47972964A>T | CA604847662 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47972966G>A | CA2618501076 | COL2A1 | c.*441C>T (n.*441C>T)
| gnomAD v4 |
12 | g.47972969C>A | CA2618501081 | COL2A1 | c.*438G>T (n.*438G>T)
| gnomAD v4 |
12 | g.47972970T>G | CA689461298 | COL2A1 | c.*437A>C (n.*437A>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47972970T= | CA2034470005 | COL2A1 | c.*437A= (n.*437A=)
| |
12 | g.47972971T>G | CA2618501089 | COL2A1 | c.*436A>C (n.*436A>C)
| gnomAD v4 |
12 | g.47972972T>G | CA236515236 | COL2A1 | c.*435A>C (n.*435A>C)
| dbSNP gnomAD v4 |
12 | g.47972972T= | CA2034470008 | COL2A1 | c.*435A= (n.*435A=)
| |
12 | g.47972972_47972973delinsTC | CA2034470007 | COL2A1 | c.*434_*435delinsGA (n.*434_*435delinsGA)
| |
12 | g.47972973C>A | CA2618501097 | COL2A1 | c.*434G>T (n.*434G>T)
| gnomAD v4 |
12 | g.47972974del | CA2034470010 | COL2A1 | c.*434del (n.*434del)
| dbSNP gnomAD v4 |
12 | g.47972974C>A | CA2618501121 | COL2A1 | c.*433G>T (n.*433G>T)
| gnomAD v4 |
12 | g.47972976A= | CA2034470012 | COL2A1 | c.*431T= (n.*431T=)
| |
12 | g.47972976A>G | CA236515239 | COL2A1 | c.*431T>C (n.*431T>C)
| dbSNP gnomAD v4 |
12 | g.47972977T>A | CA2726100380 | COL2A1 | c.*430A>T (n.*430A>T)
| dbSNP |
12 | g.47972977T>C | CA2034470015 | COL2A1 | c.*430A>G (n.*430A>G)
| dbSNP gnomAD v4 |
12 | g.47972977T= | CA2034470014 | COL2A1 | c.*430A= (n.*430A=)
| |
12 | g.47972978A= | CA2034470017 | COL2A1 | c.*429T= (n.*429T=)
| |
12 | g.47972978A>G | CA2618501129 | COL2A1 | c.*429T>C (n.*429T>C)
| gnomAD v4 |
12 | g.47972979A= | CA2034470020 | COL2A1 | c.*428T= (n.*428T=)
| |
12 | g.47972979A>T | CA236515240 | COL2A1 | c.*428T>A (n.*428T>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47972979_47972981dup | CA947350067 | COL2A1 | c.*426_*428dup (n.*426_*428dup)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47972981C>A | CA2618501132 | COL2A1 | c.*426G>T (n.*426G>T)
| gnomAD v4 |
12 | g.47972987A= | CA2034470024 | COL2A1 | c.*420T= (n.*420T=)
| |
12 | g.47972987A>G | CA2034470022 | COL2A1 | c.*420T>C (n.*420T>C)
| dbSNP |
12 | g.47972987_47972988delinsAT | CA2034470025 | COL2A1 | c.*419_*420delinsAT (n.*419_*420delinsAT)
| |
12 | g.47972992dup | CA2034470027 | COL2A1 | c.*419dup (n.*419dup)
| dbSNP |
12 | g.47972992del | CA919081159 | COL2A1 | c.*419del (n.*419del)
| dbSNP |
12 | g.47972989T>C | CA2618501134 | COL2A1 | c.*418A>G (n.*418A>G)
| gnomAD v4 |
12 | g.47972994A>G | CA2618501136 | COL2A1 | c.*413T>C (n.*413T>C)
| gnomAD v4 |
12 | g.47972994A>T | CA2795861017 | COL2A1 | c.*413T>A (n.*413T>A)
| |
12 | g.47972995T>C | CA2034470032 | COL2A1 | c.*412A>G (n.*412A>G)
| dbSNP gnomAD v4 |
12 | g.47972995T= | CA2034470030 | COL2A1 | c.*412A= (n.*412A=)
| |
12 | g.47972996A= | CA2034470034 | COL2A1 | c.*411T= (n.*411T=)
| |
12 | g.47972996A>G | CA236515241 | COL2A1 | c.*411T>C (n.*411T>C)
| dbSNP |
12 | g.47972997_47972999dup | CA689461300 | COL2A1 | c.*409_*411dup (n.*409_*411dup)
| dbSNP |
12 | g.47972997T>C | CA947350082 | COL2A1 | c.*410A>G (n.*410A>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47972997T>G | CA2618501140 | COL2A1 | c.*410A>C (n.*410A>C)
| gnomAD v4 |
12 | g.47972997T= | CA2034470036 | COL2A1 | c.*410A= (n.*410A=)
| |
12 | g.47972998C>A | CA2618501144 | COL2A1 | c.*409G>T (n.*409G>T)
| gnomAD v4 |
12 | g.47972998C>T | CA2618501145 | COL2A1 | c.*409G>A (n.*409G>A)
| gnomAD v4 |
12 | g.47972999_47973002del | CA2618501149 | COL2A1 | c.*405_*408del (n.*405_*408del)
| gnomAD v4 |
12 | g.47973000A= | CA2034470038 | COL2A1 | c.*407T= (n.*407T=)
| |
12 | g.47973000A>G | CA236515242 | COL2A1 | c.*407T>C (n.*407T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973001T>C | CA10632871 | COL2A1 | c.*406A>G (n.*406A>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973001T= | CA2034470044 | COL2A1 | c.*406A= (n.*406A=)
| |
12 | g.47973002T>C | CA2618501164 | COL2A1 | c.*405A>G (n.*405A>G)
| gnomAD v4 |
12 | g.47973002T>G | CA2618501161 | COL2A1 | c.*405A>C (n.*405A>C)
| gnomAD v4 |
12 | g.47973003G= | CA2034470047 | COL2A1 | c.*404C= (n.*404C=)
| |
12 | g.47973003G>T | CA2618501165 | COL2A1 | c.*404C>A (n.*404C>A)
| gnomAD v4 |
12 | g.47973004A= | CA2034470050 | COL2A1 | c.*403T= (n.*403T=)
| |
12 | g.47973004A>C | CA2596101284 | COL2A1 | c.*403T>G (n.*403T>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973004A>T | CA689461310 | COL2A1 | c.*403T>A (n.*403T>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973004_47973005dup | CA947350086 | COL2A1 | c.*402_*403dup (n.*402_*403dup)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973006G>A | CA689461316 | COL2A1 | c.*401C>T (n.*401C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973006G>C | CA2034470059 | COL2A1 | c.*401C>G (n.*401C>G)
| dbSNP gnomAD v4 |
12 | g.47973006G= | CA2034470058 | COL2A1 | c.*401C= (n.*401C=)
| |
12 | g.47973006G>T | CA2618501173 | COL2A1 | c.*401C>A (n.*401C>A)
| gnomAD v4 |
12 | g.47973008T>A | CA2618501178 | COL2A1 | c.*399A>T (n.*399A>T)
| gnomAD v4 |
12 | g.47973010T>A | CA689461321 | COL2A1 | c.*397A>T (n.*397A>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973010T>C | CA947350096 | COL2A1 | c.*397A>G (n.*397A>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973010T= | CA2034470062 | COL2A1 | c.*397A= (n.*397A=)
| |
12 | g.47973011A>G | CA2618501209 | COL2A1 | c.*396T>C (n.*396T>C)
| gnomAD v4 |
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 |