Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47973122_47973124delinsCAG | CA2034470186 | COL2A1 | c.*283_*285delinsCTG (n.*283_*285delinsCTG) | |
12 | g.47973123A>G | CA2618501646 | COL2A1 | c.*284T>C (n.*284T>C) | gnomAD v4 |
12 | g.47973123_47973124del | CA236515305 | COL2A1 | c.*283_*284del (n.*283_*284del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973124G>A | CA2618501651 | COL2A1 | c.*283C>T (n.*283C>T) | gnomAD v4 |
12 | g.47973124G>T | CA2618501654 | COL2A1 | c.*283C>A (n.*283C>A) | gnomAD v4 |
12 | g.47973128dup | CA2795861028 | COL2A1 | c.*283dup (n.*283dup) | |
12 | g.47973125G>A | CA2618501655 | COL2A1 | c.*282C>T (n.*282C>T) | gnomAD v4 |
12 | g.47973125G>T | CA2618501660 | COL2A1 | c.*282C>A (n.*282C>A) | gnomAD v4 |
12 | g.47973126G>A | CA2034470191 | COL2A1 | c.*281C>T (n.*281C>T) | dbSNP |
12 | g.47973126G>C | CA2618501662 | COL2A1 | c.*281C>G (n.*281C>G) | gnomAD v4 |
12 | g.47973126G= | CA2034470190 | COL2A1 | c.*281C= (n.*281C=) | |
12 | g.47973126G>T | CA2618501663 | COL2A1 | c.*281C>A (n.*281C>A) | gnomAD v4 |
12 | g.47973127G>A | CA2618501672 | COL2A1 | c.*280C>T (n.*280C>T) | gnomAD v4 |
12 | g.47973127G>T | CA2534953547 | COL2A1 | c.*280C>A (n.*280C>A) | gnomAD v4 |
12 | g.47973128G>A | CA2034470195 | COL2A1 | c.*279C>T (n.*279C>T) | dbSNP gnomAD v4 |
12 | g.47973128G>C | CA236515311 | COL2A1 | c.*279C>G (n.*279C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973128G= | CA2034470194 | COL2A1 | c.*279C= (n.*279C=) | |
12 | g.47973128G>T | CA2618501681 | COL2A1 | c.*279C>A (n.*279C>A) | gnomAD v4 |
12 | g.47973129C>A | CA2618501685 | COL2A1 | c.*278G>T (n.*278G>T) | gnomAD v4 |
12 | g.47973134G>T | CA2618501690 | COL2A1 | c.*273C>A (n.*273C>A) | gnomAD v4 |
12 | g.47973135A= | CA2034470198 | COL2A1 | c.*272T= (n.*272T=) | |
12 | g.47973135A>C | CA2034470199 | COL2A1 | c.*272T>G (n.*272T>G) | dbSNP |
12 | g.47973135A>G | CA236515313 | COL2A1 | c.*272T>C (n.*272T>C) | dbSNP |
12 | g.47973135A>T | CA2034470201 | COL2A1 | c.*272T>A (n.*272T>A) | dbSNP gnomAD v4 |
12 | g.47973136C>A | CA2505947858 | COL2A1 | c.*271G>T (n.*271G>T) | |
12 | g.47973136C= | CA2034470202 | COL2A1 | c.*271G= (n.*271G=) | |
12 | g.47973136C>T | CA2034470203 | COL2A1 | c.*271G>A (n.*271G>A) | dbSNP gnomAD v4 |
12 | g.47973136_47973158del | CA2618501693 | COL2A1 | c.*249_*271del (n.*249_*271del) | gnomAD v4 |
12 | g.47973137T>A | CA2618501697 | COL2A1 | c.*270A>T (n.*270A>T) | gnomAD v4 |
12 | g.47973137T>C | CA947350149 | COL2A1 | c.*270A>G (n.*270A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973137T= | CA2034470205 | COL2A1 | c.*270A= (n.*270A=) | |
12 | g.47973138C>A | CA2618501704 | COL2A1 | c.*269G>T (n.*269G>T) | gnomAD v4 |
12 | g.47973141_47973142del | CA2618501702 | COL2A1 | c.*268_*269del (n.*268_*269del) | gnomAD v4 |
12 | g.47973140C>A | CA2618501712 | COL2A1 | c.*267G>T (n.*267G>T) | gnomAD v4 |
12 | g.47973141A= | CA2034470206 | COL2A1 | c.*266T= (n.*266T=) | |
12 | g.47973141A>C | CA2034470207 | COL2A1 | c.*266T>G (n.*266T>G) | dbSNP |
12 | g.47973141A>G | CA236515316 | COL2A1 | c.*266T>C (n.*266T>C) | dbSNP gnomAD v4 |
12 | g.47973141A>T | CA236515319 | COL2A1 | c.*266T>A (n.*266T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973141_47973142delinsAC | CA2034470209 | COL2A1 | c.*265_*266delinsGT (n.*265_*266delinsGT) | |
12 | g.47973142C>A | CA2618501723 | COL2A1 | c.*265G>T (n.*265G>T) | gnomAD v4 |
12 | g.47973142C= | CA2034470212 | COL2A1 | c.*265G= (n.*265G=) | |
12 | g.47973142C>T | CA689461402 | COL2A1 | c.*265G>A (n.*265G>A) | dbSNP |
12 | g.47973143del | CA689461408 | COL2A1 | c.*265del (n.*265del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973143C>A | CA2618501731 | COL2A1 | c.*264G>T (n.*264G>T) | gnomAD v4 |
12 | g.47973143C= | CA2034470213 | COL2A1 | c.*264G= (n.*264G=) | |
12 | g.47973144A= | CA2034470217 | COL2A1 | c.*263T= (n.*263T=) | |
12 | g.47973144A>C | CA2034470216 | COL2A1 | c.*263T>G (n.*263T>G) | dbSNP |
12 | g.47973148_47973151dup | CA2034470215 | COL2A1 | c.*260_*263dup (n.*260_*263dup) | dbSNP |
12 | g.47973145G>T | CA2618501734 | COL2A1 | c.*262C>A (n.*262C>A) | gnomAD v4 |
12 | g.47973147T>A | CA947350151 | COL2A1 | c.*260A>T (n.*260A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973147T= | CA2034470219 | COL2A1 | c.*260A= (n.*260A=) | |
12 | g.47973148A>G | CA2618501748 | COL2A1 | c.*259T>C (n.*259T>C) | gnomAD v4 |
12 | g.47973148A>T | CA2618501745 | COL2A1 | c.*259T>A (n.*259T>A) | gnomAD v4 |
12 | g.47973150T>A | CA2618501750 | COL2A1 | c.*257A>T (n.*257A>T) | gnomAD v4 |
12 | g.47973153C>A | CA2618501754 | COL2A1 | c.*254G>T (n.*254G>T) | gnomAD v4 |
12 | g.47973153C>T | CA2618501756 | COL2A1 | c.*254G>A (n.*254G>A) | gnomAD v4 |
12 | g.47973154C= | CA2034470220 | COL2A1 | c.*253G= (n.*253G=) | |
12 | g.47973154C>T | CA2034470221 | COL2A1 | c.*253G>A (n.*253G>A) | dbSNP |
12 | g.47973156G>A | CA236515328 | COL2A1 | c.*251C>T (n.*251C>T) | dbSNP gnomAD v4 |
12 | g.47973156G= | CA2034470223 | COL2A1 | c.*251C= (n.*251C=) | |
12 | g.47973156G>T | CA2618501764 | COL2A1 | c.*251C>A (n.*251C>A) | gnomAD v4 |
12 | g.47973157C>A | CA2618501773 | COL2A1 | c.*250G>T (n.*250G>T) | gnomAD v4 |
12 | g.47973157C= | CA2034470225 | COL2A1 | c.*250G= (n.*250G=) | |
12 | g.47973157C>G | CA2034470226 | COL2A1 | c.*250G>C (n.*250G>C) | dbSNP |
12 | g.47973157C>T | CA2618501782 | COL2A1 | c.*250G>A (n.*250G>A) | gnomAD v4 |
12 | g.47973159T>C | CA2618501787 | COL2A1 | c.*248A>G (n.*248A>G) | gnomAD v4 |
12 | g.47973161T>C | CA2795861030 | COL2A1 | c.*246A>G (n.*246A>G) | |
12 | g.47973162G>A | CA2618501790 | COL2A1 | c.*245C>T (n.*245C>T) | gnomAD v4 |
12 | g.47973162G= | CA2034470230 | COL2A1 | c.*245C= (n.*245C=) | |
12 | g.47973162G>T | CA2034470229 | COL2A1 | c.*245C>A (n.*245C>A) | dbSNP gnomAD v4 |
12 | g.47973162_47973163delinsGC | CA2034470232 | COL2A1 | c.*244_*245delinsGC (n.*244_*245delinsGC) | |
12 | g.47973163C>A | CA2618501793 | COL2A1 | c.*244G>T (n.*244G>T) | gnomAD v4 |
12 | g.47973164del | CA689461412 | COL2A1 | c.*244del (n.*244del) | dbSNP |
12 | g.47973164C>A | CA2618501794 | COL2A1 | c.*243G>T (n.*243G>T) | gnomAD v4 |
12 | g.47973166T>G | CA2618501795 | COL2A1 | c.*241A>C (n.*241A>C) | gnomAD v4 |
12 | g.47973167G>C | CA2618501798 | COL2A1 | c.*240C>G (n.*240C>G) | gnomAD v4 |
12 | g.47973167G>T | CA2618501802 | COL2A1 | c.*240C>A (n.*240C>A) | gnomAD v4 |
12 | g.47973168A>G | CA2618501805 | COL2A1 | c.*239T>C (n.*239T>C) | gnomAD v4 |
12 | g.47973168_47973169delinsAC | CA2034470236 | COL2A1 | c.*238_*239delinsGT (n.*238_*239delinsGT) | |
12 | g.47973168_47973169insGTT | CA2795861031 | COL2A1 | c.*238_*239insAAC (n.*238_*239insAAC) | |
12 | g.47973169C>A | CA2618501810 | COL2A1 | c.*238G>T (n.*238G>T) | gnomAD v4 |
12 | g.47973171del | CA2034470238 | COL2A1 | c.*238del (n.*238del) | dbSNP |
12 | g.47973170C>T | CA2618501815 | COL2A1 | c.*237G>A (n.*237G>A) | gnomAD v4 |
12 | g.47973171C= | CA2034470239 | COL2A1 | c.*236G= (n.*236G=) | |
12 | g.47973171C>T | CA689461413 | COL2A1 | c.*236G>A (n.*236G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973172G>A | CA236515341 | COL2A1 | c.*235C>T (n.*235C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973172G= | CA2034470242 | COL2A1 | c.*235C= (n.*235C=) | |
12 | g.47973172G>T | CA2618501823 | COL2A1 | c.*235C>A (n.*235C>A) | gnomAD v4 |
12 | g.47973174A>G | CA2618501826 | COL2A1 | c.*233T>C (n.*233T>C) | gnomAD v4 |
12 | g.47973175G>T | CA2618501829 | COL2A1 | c.*232C>A (n.*232C>A) | gnomAD v4 |
12 | g.47973176G>A | CA2618501832 | COL2A1 | c.*231C>T (n.*231C>T) | gnomAD v4 |
12 | g.47973176G>C | CA689461416 | COL2A1 | c.*231C>G (n.*231C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973176G= | CA2034470248 | COL2A1 | c.*231C= (n.*231C=) | |
12 | g.47973176G>T | CA236515349 | COL2A1 | c.*231C>A (n.*231C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973177T>C | CA2618501840 | COL2A1 | c.*230A>G (n.*230A>G) | gnomAD v4 |
12 | g.47973178C>A | CA2618501843 | COL2A1 | c.*229G>T (n.*229G>T) | gnomAD v4 |
12 | g.47973181A>G | CA2618501848 | COL2A1 | c.*226T>C (n.*226T>C) | gnomAD v4 |
12 | g.47973181A>T | CA2618501845 | COL2A1 | c.*226T>A (n.*226T>A) | gnomAD v4 |
12 | g.47973182C>A | CA2618501861 | COL2A1 | c.*225G>T (n.*225G>T) | gnomAD v4 |
12 | g.47973182C= | CA2034470251 | COL2A1 | c.*225G= (n.*225G=) | |
12 | g.47973182C>G | CA2618501858 | COL2A1 | c.*225G>C (n.*225G>C) | gnomAD v4 |
12 | g.47973182C>T | CA947350160 | COL2A1 | c.*225G>A (n.*225G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973183A= | CA2034470253 | COL2A1 | c.*224T= (n.*224T=) | |
12 | g.47973183A>G | CA689461421 | COL2A1 | c.*224T>C (n.*224T>C) | dbSNP gnomAD v4 |
12 | g.47973183_47973184delinsAG | CA2034470252 | COL2A1 | c.*223_*224delinsCT (n.*223_*224delinsCT) | |
12 | g.47973184G>A | CA604847926 | COL2A1 | c.*223C>T (n.*223C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973184G= | CA2034470256 | COL2A1 | c.*223C= (n.*223C=) | |
12 | g.47973184G>T | CA2618501875 | COL2A1 | c.*223C>A (n.*223C>A) | gnomAD v4 |
12 | g.47973185del | CA2034470257 | COL2A1 | c.*223del (n.*223del) | dbSNP |
12 | g.47973185G>T | CA2618501881 | COL2A1 | c.*222C>A (n.*222C>A) | gnomAD v4 |
12 | g.47973187A>G | CA2618501883 | COL2A1 | c.*220T>C (n.*220T>C) | gnomAD v4 |
12 | g.47973188G>A | CA2795861034 | COL2A1 | c.*219C>T (n.*219C>T) | |
12 | g.47973188G>T | CA2618501885 | COL2A1 | c.*219C>A (n.*219C>A) | gnomAD v4 |
12 | g.47973191A>G | CA2618501889 | COL2A1 | c.*216T>C (n.*216T>C) | gnomAD v4 |
12 | g.47973199_47973202del | CA2618501887 | COL2A1 | c.*213_*216del (n.*213_*216del) | gnomAD v4 |
12 | g.47973192A= | CA2034470260 | COL2A1 | c.*215T= (n.*215T=) | |
12 | g.47973192A>G | CA689461433 | COL2A1 | c.*215T>C (n.*215T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973193T>C | CA689461436 | COL2A1 | c.*214A>G (n.*214A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973193T= | CA2034470262 | COL2A1 | c.*214A= (n.*214A=) | |
12 | g.47973194A= | CA2034470265 | COL2A1 | c.*213T= (n.*213T=) | |
12 | g.47973194A>C | CA2618501895 | COL2A1 | c.*213T>G (n.*213T>G) | gnomAD v4 |
12 | g.47973194A>G | CA689461444 | COL2A1 | c.*213T>C (n.*213T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973195A= | CA2034470268 | COL2A1 | c.*212T= (n.*212T=) | |
12 | g.47973195A>C | CA2618501897 | COL2A1 | c.*212T>G (n.*212T>G) | gnomAD v4 |
12 | g.47973195A>G | CA2618501963 | COL2A1 | c.*212T>C (n.*212T>C) | gnomAD v4 |
12 | g.47973196A>G | CA2618501970 | COL2A1 | c.*211T>C (n.*211T>C) | gnomAD v4 |
12 | g.47973197_47973198dup | CA2034470269 | COL2A1 | c.*210_*211dup (n.*210_*211dup) | dbSNP |
12 | g.47973197T>C | CA947350166 | COL2A1 | c.*210A>G (n.*210A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973197T= | CA2034470271 | COL2A1 | c.*210A= (n.*210A=) | |
12 | g.47973199A>C | CA2618501971 | COL2A1 | c.*208T>G (n.*208T>G) | gnomAD v4 |
12 | g.47973203G>A | CA2618501973 | COL2A1 | c.*204C>T (n.*204C>T) n.3754C>T | gnomAD v4 |
12 | g.47973203G>T | CA2618501975 | COL2A1 | c.*204C>A (n.*204C>A) n.3754C>A | gnomAD v4 |
12 | g.47973206C>A | CA2618501980 | COL2A1 | c.*201G>T (n.*201G>T) n.3751G>T | gnomAD v4 |
12 | g.47973207A= | CA2034470272 | COL2A1 | c.*200T= (n.*200T=) n.3750T= | |
12 | g.47973207A>G | CA947350169 | COL2A1 | c.*200T>C (n.*200T>C) n.3750T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973208C>A | CA236515351 | COL2A1 | c.*199G>T (n.*199G>T) n.3749G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973208C= | CA2034470274 | COL2A1 | c.*199G= (n.*199G=) n.3749G= | |
12 | g.47973209del | CA2618501988 | COL2A1 | c.*199del (n.*199del) n.3749del | gnomAD v4 |
12 | g.47973209C>A | CA2618501994 | COL2A1 | c.*198G>T (n.*198G>T) n.3748G>T | gnomAD v4 |
12 | g.47973209C= | CA2034470277 | COL2A1 | c.*198G= (n.*198G=) n.3748G= | |
12 | g.47973209C>T | CA604847930 | COL2A1 | c.*198G>A (n.*198G>A) n.3748G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973210G>A | CA236515358 | COL2A1 | c.*197C>T (n.*197C>T) n.3747C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973210G= | CA2034470279 | COL2A1 | c.*197C= (n.*197C=) n.3747C= | |
12 | g.47973211A>G | CA2618502004 | COL2A1 | c.*196T>C (n.*196T>C) n.3746T>C | gnomAD v4 |
12 | g.47973211dup | CA689461445 | COL2A1 | c.*196dup (n.*196dup) n.3746dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973212G>T | CA2618502008 | COL2A1 | c.*195C>A (n.*195C>A) n.3745C>A | gnomAD v4 |
12 | g.47973213A= | CA2034470284 | COL2A1 | c.*194T= (n.*194T=) n.3744T= | |
12 | g.47973214T>G | CA2618502013 | COL2A1 | c.*193A>C (n.*193A>C) n.3743A>C | gnomAD v4 |
12 | g.47973217dup | CA604847936 | COL2A1 | c.*193dup (n.*193dup) n.3743dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973215T>G | CA2618502021 | COL2A1 | c.*192A>C (n.*192A>C) n.3742A>C | gnomAD v4 |
12 | g.47973216T>G | CA2618502023 | COL2A1 | c.*191A>C (n.*191A>C) n.3741A>C | gnomAD v4 |
12 | g.47973218_47973220dup | CA2795861042 | COL2A1 | c.*189_*191dup (n.*189_*191dup) n.3739_3741dup | |
12 | g.47973217T>C | CA2618502025 | COL2A1 | c.*190A>G (n.*190A>G) n.3740A>G | gnomAD v4 |
12 | g.47973217T>G | CA2530820649 | COL2A1 | c.*190A>C (n.*190A>C) n.3740A>C | |
12 | g.47973219T>G | CA2618502029 | COL2A1 | c.*188A>C (n.*188A>C) n.3738A>C | gnomAD v4 |
12 | g.47973220T>G | CA2618502033 | COL2A1 | c.*187A>C (n.*187A>C) n.3737A>C | gnomAD v4 |
12 | g.47973221T>A | CA236515361 | COL2A1 | c.*186A>T (n.*186A>T) n.3736A>T | dbSNP |
12 | g.47973221T>G | CA2618502036 | COL2A1 | c.*186A>C (n.*186A>C) n.3736A>C | gnomAD v4 |
12 | g.47973221T= | CA2034470291 | COL2A1 | c.*186A= (n.*186A=) n.3736A= | |
12 | g.47973223G>A | CA2618502049 | COL2A1 | c.*184C>T (n.*184C>T) n.3734C>T | gnomAD v4 |
12 | g.47973223G>T | CA2618502053 | COL2A1 | c.*184C>A (n.*184C>A) n.3734C>A | gnomAD v4 |