Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.8580818del | CA884337333 | ADAMTS10 | c.*78del (n.*78del) c.*2267del (n.*2267del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580815_8580849delinsGGGGCCCCCTCTGGCCGGCCCGCTGCAGGGCTGGC | CA2321494625 | ADAMTS10 | c.*44_*78delinsGCCAGCCCTGCAGCGGGCCGGCCAGAGGGGGCCCC (n.*44_*78delinsGCCAGCCCTGCAGCGGGCCGGCCAGAGGGGGCCCC) c.*2233_*2267delinsGCCAGCCCTGCAGCGGGCCGGCCAGAGGGGGCCCC (n.*2233_*2267delinsGCCAGCCCTGCAGCGGGCCGGCCAGAGGGGGCCCC) | |
19 | g.8580818_8580851del | CA884337335 | ADAMTS10 | c.*44_*77del (n.*44_*77del) c.*2233_*2266del (n.*2233_*2266del) | dbSNP |
19 | g.8580817G>A | CA2588116055 | ADAMTS10 | c.*76C>T (n.*76C>T) c.*2265C>T (n.*2265C>T) | gnomAD v4 |
19 | g.8580817G>C | CA2321494630 | ADAMTS10 | c.*76C>G (n.*76C>G) c.*2265C>G (n.*2265C>G) | dbSNP |
19 | g.8580817G= | CA2321494629 | ADAMTS10 | c.*76C= (n.*76C=) c.*2265C= (n.*2265C=) | |
19 | g.8580817G>T | CA2576607655 | ADAMTS10 | c.*76C>A (n.*76C>A) c.*2265C>A (n.*2265C>A) | gnomAD v4 |
19 | g.8580817_8580829delinsGGCCCCCTCTGGC | CA2321494631 | ADAMTS10 | c.*64_*76delinsGCCAGAGGGGGCC (n.*64_*76delinsGCCAGAGGGGGCC) c.*2253_*2265delinsGCCAGAGGGGGCC (n.*2253_*2265delinsGCCAGAGGGGGCC) | |
19 | g.8580818G>A | CA2321494633 | ADAMTS10 | c.*75C>T (n.*75C>T) c.*2264C>T (n.*2264C>T) | dbSNP gnomAD v4 |
19 | g.8580818G>C | CA2588116056 | ADAMTS10 | c.*75C>G (n.*75C>G) c.*2264C>G (n.*2264C>G) | gnomAD v4 |
19 | g.8580818G= | CA2321494632 | ADAMTS10 | c.*75C= (n.*75C=) c.*2264C= (n.*2264C=) | |
19 | g.8580818G>T | CA2576607656 | ADAMTS10 | c.*75C>A (n.*75C>A) c.*2264C>A (n.*2264C>A) | gnomAD v4 |
19 | g.8580818_8580829del | CA631364696 | ADAMTS10 | c.*64_*75del (n.*64_*75del) c.*2253_*2264del (n.*2253_*2264del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580819C>A | CA884337345 | ADAMTS10 | c.*74G>T (n.*74G>T) c.*2263G>T (n.*2263G>T) | dbSNP gnomAD v4 |
19 | g.8580819C= | CA2321494635 | ADAMTS10 | c.*74G= (n.*74G=) c.*2263G= (n.*2263G=) | |
19 | g.8580819C>G | CA2588116057 | ADAMTS10 | c.*74G>C (n.*74G>C) c.*2263G>C (n.*2263G>C) | gnomAD v4 |
19 | g.8580819C>T | CA2321494636 | ADAMTS10 | c.*74G>A (n.*74G>A) c.*2263G>A (n.*2263G>A) | dbSNP gnomAD v4 |
19 | g.8580823dup | CA2321494634 | ADAMTS10 | c.*74dup (n.*74dup) c.*2263dup (n.*2263dup) | dbSNP |
19 | g.8580823del | CA2588116058 | ADAMTS10 | c.*74del (n.*74del) c.*2263del (n.*2263del) | gnomAD v4 |
19 | g.8580820C>T | CA2588116059 | ADAMTS10 | c.*73G>A (n.*73G>A) c.*2262G>A (n.*2262G>A) | gnomAD v4 |
19 | g.8580821C>A | CA631364697 | ADAMTS10 | c.*72G>T (n.*72G>T) c.*2261G>T (n.*2261G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580821C= | CA2321494637 | ADAMTS10 | c.*72G= (n.*72G=) c.*2261G= (n.*2261G=) | |
19 | g.8580821C>T | CA2321494638 | ADAMTS10 | c.*72G>A (n.*72G>A) c.*2261G>A (n.*2261G>A) | dbSNP gnomAD v4 |
19 | g.8580822C>A | CA2588116060 | ADAMTS10 | c.*71G>T (n.*71G>T) c.*2260G>T (n.*2260G>T) | gnomAD v4 |
19 | g.8580822C>T | CA2588116061 | ADAMTS10 | c.*71G>A (n.*71G>A) c.*2260G>A (n.*2260G>A) | gnomAD v4 |
19 | g.8580824T>A | CA2588116062 | ADAMTS10 | c.*69A>T (n.*69A>T) c.*2258A>T (n.*2258A>T) | gnomAD v4 |
19 | g.8580824T>C | CA2576607657 | ADAMTS10 | c.*69A>G (n.*69A>G) c.*2258A>G (n.*2258A>G) | gnomAD v4 |
19 | g.8580825C>T | CA2576607658 | ADAMTS10 | c.*68G>A (n.*68G>A) c.*2257G>A (n.*2257G>A) | gnomAD v4 |
19 | g.8580826T>A | CA2588116063 | ADAMTS10 | c.*67A>T (n.*67A>T) c.*2256A>T (n.*2256A>T) | gnomAD v4 |
19 | g.8580826T>C | CA2576607659 | ADAMTS10 | c.*67A>G (n.*67A>G) c.*2256A>G (n.*2256A>G) | gnomAD v4 |
19 | g.8580826T>G | CA2502089061 | ADAMTS10 | c.*67A>C (n.*67A>C) c.*2256A>C (n.*2256A>C) | |
19 | g.8580827G>A | CA304996302 | ADAMTS10 | c.*66C>T (n.*66C>T) c.*2255C>T (n.*2255C>T) | dbSNP gnomAD v4 |
19 | g.8580827G= | CA2321494639 | ADAMTS10 | c.*66C= (n.*66C=) c.*2255C= (n.*2255C=) | |
19 | g.8580827G>T | CA2576607660 | ADAMTS10 | c.*66C>A (n.*66C>A) c.*2255C>A (n.*2255C>A) | gnomAD v4 |
19 | g.8580827_8580828del | CA2588116065 | ADAMTS10 | c.*65_*66del (n.*65_*66del) c.*2254_*2255del (n.*2254_*2255del) | gnomAD v4 |
19 | g.8580828del | CA2588116064 | ADAMTS10 | c.*66del (n.*66del) c.*2255del (n.*2255del) | gnomAD v4 |
19 | g.8580828G>T | CA2576607661 | ADAMTS10 | c.*65C>A (n.*65C>A) c.*2254C>A (n.*2254C>A) | gnomAD v4 |
19 | g.8580829C>A | CA2588116066 | ADAMTS10 | c.*64G>T (n.*64G>T) c.*2253G>T (n.*2253G>T) | gnomAD v4 |
19 | g.8580829C= | CA2321494640 | ADAMTS10 | c.*64G= (n.*64G=) c.*2253G= (n.*2253G=) | |
19 | g.8580829C>T | CA884337354 | ADAMTS10 | c.*64G>A (n.*64G>A) c.*2253G>A (n.*2253G>A) | dbSNP gnomAD v4 |
19 | g.8580830C>A | CA2588116067 | ADAMTS10 | c.*63G>T (n.*63G>T) c.*2252G>T (n.*2252G>T) | gnomAD v4 |
19 | g.8580830C= | CA2321494641 | ADAMTS10 | c.*63G= (n.*63G=) c.*2252G= (n.*2252G=) | |
19 | g.8580830C>G | CA2321494642 | ADAMTS10 | c.*63G>C (n.*63G>C) c.*2252G>C (n.*2252G>C) | dbSNP |
19 | g.8580830C>T | CA2321494643 | ADAMTS10 | c.*63G>A (n.*63G>A) c.*2252G>A (n.*2252G>A) | dbSNP gnomAD v4 |
19 | g.8580831G>A | CA2321494645 | ADAMTS10 | c.*62C>T (n.*62C>T) c.*2251C>T (n.*2251C>T) | dbSNP gnomAD v4 |
19 | g.8580831G>C | CA304996303 | ADAMTS10 | c.*62C>G (n.*62C>G) c.*2251C>G (n.*2251C>G) | dbSNP gnomAD v4 |
19 | g.8580831G= | CA2321494644 | ADAMTS10 | c.*62C= (n.*62C=) c.*2251C= (n.*2251C=) | |
19 | g.8580831G>T | CA2576607662 | ADAMTS10 | c.*62C>A (n.*62C>A) c.*2251C>A (n.*2251C>A) | gnomAD v4 |
19 | g.8580832G>A | CA2576607663 | ADAMTS10 | c.*61C>T (n.*61C>T) c.*2250C>T (n.*2250C>T) | gnomAD v4 |
19 | g.8580832G>C | CA2321494648 | ADAMTS10 | c.*61C>G (n.*61C>G) c.*2250C>G (n.*2250C>G) | dbSNP |
19 | g.8580832G= | CA2321494647 | ADAMTS10 | c.*61C= (n.*61C=) c.*2250C= (n.*2250C=) | |
19 | g.8580832G>T | CA2576607664 | ADAMTS10 | c.*61C>A (n.*61C>A) c.*2250C>A (n.*2250C>A) | gnomAD v4 |
19 | g.8580832_8580864delinsGCCCGCTGCAGGGCTGGCGGCGGAGACCCCGCC | CA2321494646 | ADAMTS10 | c.*29_*61delinsGGCGGGGTCTCCGCCGCCAGCCCTGCAGCGGGC (n.*29_*61delinsGGCGGGGTCTCCGCCGCCAGCCCTGCAGCGGGC) c.*2218_*2250delinsGGCGGGGTCTCCGCCGCCAGCCCTGCAGCGGGC (n.*2218_*2250delinsGGCGGGGTCTCCGCCGCCAGCCCTGCAGCGGGC) | |
19 | g.8580833C>A | CA2588116068 | ADAMTS10 | c.*60G>T (n.*60G>T) c.*2249G>T (n.*2249G>T) | gnomAD v4 |
19 | g.8580833C>T | CA2588116069 | ADAMTS10 | c.*60G>A (n.*60G>A) c.*2249G>A (n.*2249G>A) | gnomAD v4 |
19 | g.8580833_8580864del | CA631364698 | ADAMTS10 | c.*29_*60del (n.*29_*60del) c.*2218_*2249del (n.*2218_*2249del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580834C= | CA2321494649 | ADAMTS10 | c.*59G= (n.*59G=) c.*2248G= (n.*2248G=) | |
19 | g.8580834C>G | CA2321494650 | ADAMTS10 | c.*59G>C (n.*59G>C) c.*2248G>C (n.*2248G>C) | dbSNP gnomAD v4 |
19 | g.8580834C>T | CA2576607665 | ADAMTS10 | c.*59G>A (n.*59G>A) c.*2248G>A (n.*2248G>A) | gnomAD v4 |
19 | g.8580835C>A | CA2588116071 | ADAMTS10 | c.*58G>T (n.*58G>T) c.*2247G>T (n.*2247G>T) | gnomAD v4 |
19 | g.8580835C= | CA2321494652 | ADAMTS10 | c.*58G= (n.*58G=) c.*2247G= (n.*2247G=) | |
19 | g.8580835C>G | CA884337356 | ADAMTS10 | c.*58G>C (n.*58G>C) c.*2247G>C (n.*2247G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580835C>T | CA2588116072 | ADAMTS10 | c.*58G>A (n.*58G>A) c.*2247G>A (n.*2247G>A) | gnomAD v4 |
19 | g.8580835_8580836delinsCG | CA2321494651 | ADAMTS10 | c.*57_*58delinsCG (n.*57_*58delinsCG) c.*2246_*2247delinsCG (n.*2246_*2247delinsCG) | |
19 | g.8580835_8580838dup | CA2588116070 | ADAMTS10 | c.*55_*58dup (n.*55_*58dup) c.*2244_*2247dup (n.*2244_*2247dup) | gnomAD v4 |
19 | g.8580836del | CA2321494653 | ADAMTS10 | c.*57del (n.*57del) c.*2246del (n.*2246del) | dbSNP gnomAD v4 |
19 | g.8580836G>A | CA2321494655 | ADAMTS10 | c.*57C>T (n.*57C>T) c.*2246C>T (n.*2246C>T) | dbSNP gnomAD v4 |
19 | g.8580836G= | CA2321494654 | ADAMTS10 | c.*57C= (n.*57C=) c.*2246C= (n.*2246C=) | |
19 | g.8580836G>T | CA2588116073 | ADAMTS10 | c.*57C>A (n.*57C>A) c.*2246C>A (n.*2246C>A) | gnomAD v4 |
19 | g.8580837C>T | CA2588116074 | ADAMTS10 | c.*56G>A (n.*56G>A) c.*2245G>A (n.*2245G>A) | gnomAD v4 |
19 | g.8580838T>C | CA2588116075 | ADAMTS10 | c.*55A>G (n.*55A>G) c.*2244A>G (n.*2244A>G) | gnomAD v4 |
19 | g.8580839G>A | CA2588116076 | ADAMTS10 | c.*54C>T (n.*54C>T) c.*2243C>T (n.*2243C>T) | gnomAD v4 |
19 | g.8580839G>T | CA2588116077 | ADAMTS10 | c.*54C>A (n.*54C>A) c.*2243C>A (n.*2243C>A) | gnomAD v4 |
19 | g.8580840C= | CA2321494656 | ADAMTS10 | c.*53G= (n.*53G=) c.*2242G= (n.*2242G=) | |
19 | g.8580840C>T | CA304996304 | ADAMTS10 | c.*53G>A (n.*53G>A) c.*2242G>A (n.*2242G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580841A= | CA2321494657 | ADAMTS10 | c.*52T= (n.*52T=) c.*2241T= (n.*2241T=) | |
19 | g.8580841A>C | CA884337359 | ADAMTS10 | c.*52T>G (n.*52T>G) c.*2241T>G (n.*2241T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580841A>G | CA2576607666 | ADAMTS10 | c.*52T>C (n.*52T>C) c.*2241T>C (n.*2241T>C) | gnomAD v4 |
19 | g.8580841A>T | CA2588116078 | ADAMTS10 | c.*52T>A (n.*52T>A) c.*2241T>A (n.*2241T>A) | gnomAD v4 |
19 | g.8580842G>C | CA2576607667 | ADAMTS10 | c.*51C>G (n.*51C>G) c.*2240C>G (n.*2240C>G) | |
19 | g.8580843G>A | CA2576607668 | ADAMTS10 | c.*50C>T (n.*50C>T) c.*2239C>T (n.*2239C>T) | |
19 | g.8580843G>T | CA2576607669 | ADAMTS10 | c.*50C>A (n.*50C>A) c.*2239C>A (n.*2239C>A) | gnomAD v4 |
19 | g.8580844G>A | CA9159923 | ADAMTS10 | c.*49C>T (n.*49C>T) c.*2238C>T (n.*2238C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580844G= | CA2321494658 | ADAMTS10 | c.*49C= (n.*49C=) c.*2238C= (n.*2238C=) | |
19 | g.8580844G>T | CA2588116079 | ADAMTS10 | c.*49C>A (n.*49C>A) c.*2238C>A (n.*2238C>A) | gnomAD v4 |
19 | g.8580845C>A | CA2588116080 | ADAMTS10 | c.*48G>T (n.*48G>T) c.*2237G>T (n.*2237G>T) | gnomAD v4 |
19 | g.8580845C>T | CA2576607670 | ADAMTS10 | c.*48G>A (n.*48G>A) c.*2237G>A (n.*2237G>A) | gnomAD v4 |
19 | g.8580846T>C | CA304996305 | ADAMTS10 | c.*47A>G (n.*47A>G) c.*2236A>G (n.*2236A>G) | ClinVar dbSNP gnomAD v4 |
19 | g.8580846T= | CA2321494659 | ADAMTS10 | c.*47A= (n.*47A=) c.*2236A= (n.*2236A=) | |
19 | g.8580847G>T | CA2588116081 | ADAMTS10 | c.*46C>A (n.*46C>A) c.*2235C>A (n.*2235C>A) | gnomAD v4 |
19 | g.8580852_8580854dup | CA2588116082 | ADAMTS10 | c.*44_*46dup (n.*44_*46dup) c.*2233_*2235dup (n.*2233_*2235dup) | gnomAD v4 |
19 | g.8580848G>T | CA2588116083 | ADAMTS10 | c.*45C>A (n.*45C>A) c.*2234C>A (n.*2234C>A) | gnomAD v4 |
19 | g.8580849C>A | CA2588116084 | ADAMTS10 | c.*44G>T (n.*44G>T) c.*2233G>T (n.*2233G>T) | gnomAD v4 |
19 | g.8580849C>T | CA2588116085 | ADAMTS10 | c.*44G>A (n.*44G>A) c.*2233G>A (n.*2233G>A) | gnomAD v4 |
19 | g.8580849_8580850delinsCG | CA2321494660 | ADAMTS10 | c.*43_*44delinsCG (n.*43_*44delinsCG) c.*2232_*2233delinsCG (n.*2232_*2233delinsCG) | |
19 | g.8580850G>A | CA631364701 | ADAMTS10 | c.*43C>T (n.*43C>T) c.*2232C>T (n.*2232C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580850G= | CA2321494661 | ADAMTS10 | c.*43C= (n.*43C=) c.*2232C= (n.*2232C=) | |
19 | g.8580850G>T | CA631364702 | ADAMTS10 | c.*43C>A (n.*43C>A) c.*2232C>A (n.*2232C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580851del | CA2321494662 | ADAMTS10 | c.*43del (n.*43del) c.*2232del (n.*2232del) | dbSNP gnomAD v4 |
19 | g.8580851G>A | CA2588116086 | ADAMTS10 | c.*42C>T (n.*42C>T) c.*2231C>T (n.*2231C>T) | gnomAD v4 |
19 | g.8580851G= | CA2321494663 | ADAMTS10 | c.*42C= (n.*42C=) c.*2231C= (n.*2231C=) | |
19 | g.8580851G>T | CA9159924 | ADAMTS10 | c.*42C>A (n.*42C>A) c.*2231C>A (n.*2231C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580852C>A | CA304996308 | ADAMTS10 | c.*41G>T (n.*41G>T) c.*2230G>T (n.*2230G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580852C= | CA2321494664 | ADAMTS10 | c.*41G= (n.*41G=) c.*2230G= (n.*2230G=) | |
19 | g.8580852C>G | CA2588116088 | ADAMTS10 | c.*41G>C (n.*41G>C) c.*2230G>C (n.*2230G>C) | gnomAD v4 |
19 | g.8580852C>T | CA9159925 | ADAMTS10 | c.*41G>A (n.*41G>A) c.*2230G>A (n.*2230G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580855_8580878dup | CA2588116087 | ADAMTS10 | c.*18_*41dup (n.*18_*41dup) c.*2207_*2230dup (n.*2207_*2230dup) | gnomAD v4 |
19 | g.8580853G>A | CA631364704 | ADAMTS10 | c.*40C>T (n.*40C>T) c.*2229C>T (n.*2229C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580853G= | CA2321494665 | ADAMTS10 | c.*40C= (n.*40C=) c.*2229C= (n.*2229C=) | |
19 | g.8580853G>T | CA2576607671 | ADAMTS10 | c.*40C>A (n.*40C>A) c.*2229C>A (n.*2229C>A) | gnomAD v4 |
19 | g.8580854G>A | CA2321494667 | ADAMTS10 | c.*39C>T (n.*39C>T) c.*2228C>T (n.*2228C>T) | dbSNP gnomAD v4 |
19 | g.8580854G>C | CA304996309 | ADAMTS10 | c.*39C>G (n.*39C>G) c.*2228C>G (n.*2228C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580854G= | CA2321494666 | ADAMTS10 | c.*39C= (n.*39C=) c.*2228C= (n.*2228C=) | |
19 | g.8580854_8580864delinsGAGACCCCGCC | CA2321494668 | ADAMTS10 | c.*29_*39delinsGGCGGGGTCTC (n.*29_*39delinsGGCGGGGTCTC) c.*2218_*2228delinsGGCGGGGTCTC (n.*2218_*2228delinsGGCGGGGTCTC) | |
19 | g.8580855A= | CA2321494669 | ADAMTS10 | c.*38T= (n.*38T=) c.*2227T= (n.*2227T=) | |
19 | g.8580855A>C | CA993277312 | ADAMTS10 | c.*38T>G (n.*38T>G) c.*2227T>G (n.*2227T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580855A>T | CA505262817 | ADAMTS10 | c.*38T>A (n.*38T>A) c.*2227T>A (n.*2227T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580857_8580866del | CA2321494670 | ADAMTS10 | c.*29_*38del (n.*29_*38del) c.*2218_*2227del (n.*2218_*2227del) | dbSNP |
19 | g.8580856G>A | CA2813516745 | ADAMTS10 | c.*37C>T (n.*37C>T) c.*2226C>T (n.*2226C>T) | |
19 | g.8580856G>C | CA2588116089 | ADAMTS10 | c.*37C>G (n.*37C>G) c.*2226C>G (n.*2226C>G) | gnomAD v4 |
19 | g.8580856G>T | CA2538006256 | ADAMTS10 | c.*37C>A (n.*37C>A) c.*2226C>A (n.*2226C>A) | gnomAD v4 |
19 | g.8580856_8580857insTCT | CA2552207693 | ADAMTS10 | c.*36_*37insAGA (n.*36_*37insAGA) c.*2225_*2226insAGA (n.*2225_*2226insAGA) | |
19 | g.8580857A= | CA2321494671 | ADAMTS10 | c.*36T= (n.*36T=) c.*2225T= (n.*2225T=) | |
19 | g.8580857A>G | CA9159926 | ADAMTS10 | c.*36T>C (n.*36T>C) c.*2225T>C (n.*2225T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580857A>T | CA993277337 | ADAMTS10 | c.*36T>A (n.*36T>A) c.*2225T>A (n.*2225T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580858C= | CA2321494672 | ADAMTS10 | c.*35G= (n.*35G=) c.*2224G= (n.*2224G=) | |
19 | g.8580858C>T | CA2321494673 | ADAMTS10 | c.*35G>A (n.*35G>A) c.*2224G>A (n.*2224G>A) | dbSNP gnomAD v4 |
19 | g.8580861del | CA2576607672 | ADAMTS10 | c.*35del (n.*35del) c.*2224del (n.*2224del) | |
19 | g.8580859C= | CA2321494674 | ADAMTS10 | c.*34G= (n.*34G=) c.*2223G= (n.*2223G=) | |
19 | g.8580859C>G | CA9159927 | ADAMTS10 | c.*34G>C (n.*34G>C) c.*2223G>C (n.*2223G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580859C>T | CA2321494675 | ADAMTS10 | c.*34G>A (n.*34G>A) c.*2223G>A (n.*2223G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580860C>A | CA9159928 | ADAMTS10 | c.*33G>T (n.*33G>T) c.*2222G>T (n.*2222G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580860C= | CA2321494676 | ADAMTS10 | c.*33G= (n.*33G=) c.*2222G= (n.*2222G=) | |
19 | g.8580860C>G | CA2588116090 | ADAMTS10 | c.*33G>C (n.*33G>C) c.*2222G>C (n.*2222G>C) | gnomAD v4 |
19 | g.8580861C>A | CA2588116091 | ADAMTS10 | c.*32G>T (n.*32G>T) c.*2221G>T (n.*2221G>T) | gnomAD v4 |
19 | g.8580861C= | CA2321494677 | ADAMTS10 | c.*32G= (n.*32G=) c.*2221G= (n.*2221G=) | |
19 | g.8580861C>G | CA2588116092 | ADAMTS10 | c.*32G>C (n.*32G>C) c.*2221G>C (n.*2221G>C) | gnomAD v4 |
19 | g.8580861C>T | CA304996310 | ADAMTS10 | c.*32G>A (n.*32G>A) c.*2221G>A (n.*2221G>A) | dbSNP gnomAD v4 COSMIC |
19 | g.8580862G>A | CA304996311 | ADAMTS10 | c.*31C>T (n.*31C>T) c.*2220C>T (n.*2220C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580862G>C | CA884337391 | ADAMTS10 | c.*31C>G (n.*31C>G) c.*2220C>G (n.*2220C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580862G= | CA2321494678 | ADAMTS10 | c.*31C= (n.*31C=) c.*2220C= (n.*2220C=) | |
19 | g.8580862G>T | CA2576607673 | ADAMTS10 | c.*31C>A (n.*31C>A) c.*2220C>A (n.*2220C>A) | |
19 | g.8580864C>A | CA2588116093 | ADAMTS10 | c.*29G>T (n.*29G>T) c.*2218G>T (n.*2218G>T) | gnomAD v4 |
19 | g.8580864C= | CA2321494679 | ADAMTS10 | c.*29G= (n.*29G=) c.*2218G= (n.*2218G=) | |
19 | g.8580864C>T | CA631364707 | ADAMTS10 | c.*29G>A (n.*29G>A) c.*2218G>A (n.*2218G>A) | dbSNP gnomAD v2 |
19 | g.8580865A= | CA2321494680 | ADAMTS10 | c.*28T= (n.*28T=) c.*2217T= (n.*2217T=) | |
19 | g.8580865A>C | CA9159930 | ADAMTS10 | c.*28T>G (n.*28T>G) c.*2217T>G (n.*2217T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580865A>G | CA9159929 | ADAMTS10 | c.*28T>C (n.*28T>C) c.*2217T>C (n.*2217T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580866G>A | CA2588116094 | ADAMTS10 | c.*27C>T (n.*27C>T) c.*2216C>T (n.*2216C>T) | gnomAD v4 |
19 | g.8580866G= | CA2321494681 | ADAMTS10 | c.*27C= (n.*27C=) c.*2216C= (n.*2216C=) | |
19 | g.8580866G>T | CA9159931 | ADAMTS10 | c.*27C>A (n.*27C>A) c.*2216C>A (n.*2216C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580867C>A | CA2588116095 | ADAMTS10 | c.*26G>T (n.*26G>T) c.*2215G>T (n.*2215G>T) | gnomAD v4 |
19 | g.8580867C>T | CA2588116096 | ADAMTS10 | c.*26G>A (n.*26G>A) c.*2215G>A (n.*2215G>A) | gnomAD v4 |
19 | g.8580868T>C | CA631364711 | ADAMTS10 | c.*25A>G (n.*25A>G) c.*2214A>G (n.*2214A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580868T>G | CA631364713 | ADAMTS10 | c.*25A>C (n.*25A>C) c.*2214A>C (n.*2214A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580868T= | CA2321494682 | ADAMTS10 | c.*25A= (n.*25A=) c.*2214A= (n.*2214A=) | |
19 | g.8580869G>A | CA2582326080 | ADAMTS10 | c.*24C>T (n.*24C>T) c.*2213C>T (n.*2213C>T) | gnomAD v3 gnomAD v4 |
19 | g.8580869G>T | CA2588116097 | ADAMTS10 | c.*24C>A (n.*24C>A) c.*2213C>A (n.*2213C>A) | gnomAD v4 |
19 | g.8580870T>C | CA304996312 | ADAMTS10 | c.*23A>G (n.*23A>G) c.*2212A>G (n.*2212A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580870T= | CA2321494683 | ADAMTS10 | c.*23A= (n.*23A=) c.*2212A= (n.*2212A=) | |
19 | g.8580871G>T | CA2588116098 | ADAMTS10 | c.*22C>A (n.*22C>A) c.*2211C>A (n.*2211C>A) | gnomAD v4 |
19 | g.8580872G>A | CA2588116099 | ADAMTS10 | c.*21C>T (n.*21C>T) c.*2210C>T (n.*2210C>T) | gnomAD v4 |
19 | g.8580872G>T | CA2588116100 | ADAMTS10 | c.*21C>A (n.*21C>A) c.*2210C>A (n.*2210C>A) | gnomAD v4 |
19 | g.8580873C>A | CA2588116101 | ADAMTS10 | c.*20G>T (n.*20G>T) c.*2209G>T (n.*2209G>T) | gnomAD v4 |
19 | g.8580873C= | CA2321494684 | ADAMTS10 | c.*20G= (n.*20G=) c.*2209G= (n.*2209G=) | |
19 | g.8580873C>T | CA9159932 | ADAMTS10 | c.*20G>A (n.*20G>A) c.*2209G>A (n.*2209G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580874T>C | CA2576607674 | ADAMTS10 | c.*19A>G (n.*19A>G) c.*2208A>G (n.*2208A>G) | |
19 | g.8580875C>A | CA2588116103 | ADAMTS10 | c.*18G>T (n.*18G>T) c.*2207G>T (n.*2207G>T) | gnomAD v4 |
19 | g.8580875C= | CA2321494685 | ADAMTS10 | c.*18G= (n.*18G=) c.*2207G= (n.*2207G=) | |
19 | g.8580875C>T | CA2321494686 | ADAMTS10 | c.*18G>A (n.*18G>A) c.*2207G>A (n.*2207G>A) | dbSNP gnomAD v4 |
19 | g.8580877_8580893dup | CA2588116102 | ADAMTS10 | c.*2_*18dup (n.*2_*18dup) c.*2191_*2207dup (n.*2191_*2207dup) | gnomAD v4 |
19 | g.8580876C>A | CA2588116104 | ADAMTS10 | c.*17G>T (n.*17G>T) c.*2206G>T (n.*2206G>T) | gnomAD v4 |
19 | g.8580876C= | CA2321494687 | ADAMTS10 | c.*17G= (n.*17G=) c.*2206G= (n.*2206G=) | |
19 | g.8580876C>G | CA2321494688 | ADAMTS10 | c.*17G>C (n.*17G>C) c.*2206G>C (n.*2206G>C) | dbSNP gnomAD v4 |
19 | g.8580876C>T | CA9159933 | ADAMTS10 | c.*17G>A (n.*17G>A) c.*2206G>A (n.*2206G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580877G>A | CA631364717 | ADAMTS10 | c.*16C>T (n.*16C>T) c.*2205C>T (n.*2205C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580877G= | CA2321494689 | ADAMTS10 | c.*16C= (n.*16C=) c.*2205C= (n.*2205C=) | |
19 | g.8580877G>T | CA2588116106 | ADAMTS10 | c.*16C>A (n.*16C>A) c.*2205C>A (n.*2205C>A) | dbSNP gnomAD v4 |
19 | g.8580879del | CA2588116105 | ADAMTS10 | c.*16del (n.*16del) c.*2205del (n.*2205del) | gnomAD v4 |
19 | g.8580878G>A | CA2588116107 | ADAMTS10 | c.*15C>T (n.*15C>T) c.*2204C>T (n.*2204C>T) | gnomAD v4 |
19 | g.8580878G>C | CA631364718 | ADAMTS10 | c.*15C>G (n.*15C>G) c.*2204C>G (n.*2204C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580878G= | CA2321494690 | ADAMTS10 | c.*15C= (n.*15C=) c.*2204C= (n.*2204C=) | |
19 | g.8580878G>T | CA2588116108 | ADAMTS10 | c.*15C>A (n.*15C>A) c.*2204C>A (n.*2204C>A) | gnomAD v4 |
19 | g.8580879G>A | CA2576607675 | ADAMTS10 | c.*14C>T (n.*14C>T) c.*2203C>T (n.*2203C>T) | gnomAD v4 |
19 | g.8580879G>T | CA2576607676 | ADAMTS10 | c.*14C>A (n.*14C>A) c.*2203C>A (n.*2203C>A) | gnomAD v4 |
19 | g.8580880T>G | CA2588116109 | ADAMTS10 | c.*13A>C (n.*13A>C) c.*2202A>C (n.*2202A>C) | gnomAD v4 |
19 | g.8580881G>A | CA2588116111 | ADAMTS10 | c.*12C>T (n.*12C>T) c.*2201C>T (n.*2201C>T) | gnomAD v4 |
19 | g.8580881G>T | CA2588116112 | ADAMTS10 | c.*12C>A (n.*12C>A) c.*2201C>A (n.*2201C>A) | gnomAD v4 |
19 | g.8580884_8580890del | CA2588116110 | ADAMTS10 | c.*6_*12del (n.*6_*12del) c.*2195_*2201del (n.*2195_*2201del) | gnomAD v4 |
19 | g.8580882C= | CA2321494691 | ADAMTS10 | c.*11G= (n.*11G=) c.*2200G= (n.*2200G=) | |
19 | g.8580882C>T | CA304996314 | ADAMTS10 | c.*11G>A (n.*11G>A) c.*2200G>A (n.*2200G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580882_8580884delinsCCG | CA2321494692 | ADAMTS10 | c.*9_*11delinsCGG (n.*9_*11delinsCGG) c.*2198_*2200delinsCGG (n.*2198_*2200delinsCGG) | |
19 | g.8580883C>A | CA2588116114 | ADAMTS10 | c.*10G>T (n.*10G>T) c.*2199G>T (n.*2199G>T) | gnomAD v4 |
19 | g.8580883C= | CA2321494693 | ADAMTS10 | c.*10G= (n.*10G=) c.*2199G= (n.*2199G=) | |
19 | g.8580883C>T | CA9159934 | ADAMTS10 | c.*10G>A (n.*10G>A) c.*2199G>A (n.*2199G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580888_8580889dup | CA2588116113 | ADAMTS10 | c.*9_*10dup (n.*9_*10dup) c.*2198_*2199dup (n.*2198_*2199dup) | gnomAD v4 |
19 | g.8580888_8580889del | CA884337412 | ADAMTS10 | c.*9_*10del (n.*9_*10del) c.*2198_*2199del (n.*2198_*2199del) | dbSNP gnomAD v4 |
19 | g.8580884G>A | CA631364721 | ADAMTS10 | c.*9C>T (n.*9C>T) c.*2198C>T (n.*2198C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580884G= | CA2321494694 | ADAMTS10 | c.*9C= (n.*9C=) c.*2198C= (n.*2198C=) | |
19 | g.8580884G>T | CA2588116115 | ADAMTS10 | c.*9C>A (n.*9C>A) c.*2198C>A (n.*2198C>A) | gnomAD v4 |
19 | g.8580885C>A | CA2588116116 | ADAMTS10 | c.*8G>T (n.*8G>T) c.*2197G>T (n.*2197G>T) | gnomAD v4 |
19 | g.8580885C= | CA2321494695 | ADAMTS10 | c.*8G= (n.*8G=) c.*2197G= (n.*2197G=) | |
19 | g.8580885C>T | CA2321494696 | ADAMTS10 | c.*8G>A (n.*8G>A) c.*2197G>A (n.*2197G>A) | dbSNP gnomAD v4 |
19 | g.8580886G>A | CA2576607677 | ADAMTS10 | c.*7C>T (n.*7C>T) c.*2196C>T (n.*2196C>T) | gnomAD v4 |
19 | g.8580886G>C | CA2588116117 | ADAMTS10 | c.*7C>G (n.*7C>G) c.*2196C>G (n.*2196C>G) | gnomAD v4 |
19 | g.8580886G= | CA2321494697 | ADAMTS10 | c.*7C= (n.*7C=) c.*2196C= (n.*2196C=) | |
19 | g.8580886G>T | CA884337417 | ADAMTS10 | c.*7C>A (n.*7C>A) c.*2196C>A (n.*2196C>A) | dbSNP gnomAD v4 |
19 | g.8580887C>A | CA2588116118 | ADAMTS10 | c.*6G>T (n.*6G>T) c.*2195G>T (n.*2195G>T) | gnomAD v4 |
19 | g.8580887C= | CA2321494698 | ADAMTS10 | c.*6G= (n.*6G=) c.*2195G= (n.*2195G=) | |
19 | g.8580887C>T | CA993277351 | ADAMTS10 | c.*6G>A (n.*6G>A) c.*2195G>A (n.*2195G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580888_8580890dup | CA9159935 | ADAMTS10 | c.*4_*6dup (n.*4_*6dup) c.*2193_*2195dup (n.*2193_*2195dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580888G>A | CA2588116119 | ADAMTS10 | c.*5C>T (n.*5C>T) c.*2194C>T (n.*2194C>T) | gnomAD v4 |
19 | g.8580888G>C | CA2321494701 | ADAMTS10 | c.*5C>G (n.*5C>G) c.*2194C>G (n.*2194C>G) | dbSNP gnomAD v4 |
19 | g.8580888G= | CA2321494700 | ADAMTS10 | c.*5C= (n.*5C=) c.*2194C= (n.*2194C=) | |
19 | g.8580888G>T | CA9159937 | ADAMTS10 | c.*5C>A (n.*5C>A) c.*2194C>A (n.*2194C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580888_8580890delinsGCC | CA2321494699 | ADAMTS10 | c.*3_*5delinsGGC (n.*3_*5delinsGGC) c.*2192_*2194delinsGGC (n.*2192_*2194delinsGGC) | |
19 | g.8580889C>A | CA2588116121 | ADAMTS10 | c.*4G>T (n.*4G>T) c.*2193G>T (n.*2193G>T) | gnomAD v4 |
19 | g.8580889C= | CA2321494702 | ADAMTS10 | c.*4G= (n.*4G=) c.*2193G= (n.*2193G=) | |
19 | g.8580889C>T | CA2321494703 | ADAMTS10 | c.*4G>A (n.*4G>A) c.*2193G>A (n.*2193G>A) | dbSNP gnomAD v4 |
19 | g.8580893dup | CA2588116120 | ADAMTS10 | c.*4dup (n.*4dup) c.*2193dup (n.*2193dup) | gnomAD v4 |
19 | g.8580893del | CA631364723 | ADAMTS10 | c.*4del (n.*4del) c.*2193del (n.*2193del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580892_8580893del | CA9159936 | ADAMTS10 | c.*3_*4del (n.*3_*4del) c.*2192_*2193del (n.*2192_*2193del) | dbSNP ExAC gnomAD v4 |
19 | g.8580890C= | CA2321494704 | ADAMTS10 | c.*3G= (n.*3G=) c.*2192G= (n.*2192G=) | |
19 | g.8580890C>T | CA631364724 | ADAMTS10 | c.*3G>A (n.*3G>A) c.*2192G>A (n.*2192G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580891C>A | CA9159938 | ADAMTS10 | c.*2G>T (n.*2G>T) c.*2191G>T (n.*2191G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580891C= | CA2321494705 | ADAMTS10 | c.*2G= (n.*2G=) c.*2191G= (n.*2191G=) | |
19 | g.8580891C>T | CA2588116122 | ADAMTS10 | c.*2G>A (n.*2G>A) c.*2191G>A (n.*2191G>A) | gnomAD v4 |
19 | g.8580892C>A | CA2560334179 | ADAMTS10 | c.*1G>T (n.*1G>T) c.*2190G>T (n.*2190G>T) | gnomAD v4 |
19 | g.8580892C= | CA2321494706 | ADAMTS10 | c.*1G= (n.*1G=) c.*2190G= (n.*2190G=) | |
19 | g.8580892C>T | CA9159939 | ADAMTS10 | c.*1G>A (n.*1G>A) c.*2190G>A (n.*2190G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580892_8580894dup | CA2813516758 | ADAMTS10 | c.3311_*1dup (n.3311_*1dup) c.*2188_*2190dup (n.*2188_*2190dup) c.1772_*1dup (n.1772_*1dup) c.2354_*1dup (n.2354_*1dup) c.3458_*1dup (n.3458_*1dup) c.3134_*1dup (n.3134_*1dup) c.2027_*1dup (n.2027_*1dup) c.2021_*1dup (n.2021_*1dup) c.1880_*1dup (n.1880_*1dup) c.1874_*1dup (n.1874_*1dup) | |
19 | g.8580893C>A | CA9159940 | ADAMTS10 | c.3312G>T (p.Ter1104Tyr) c.*2189G>T (n.*2189G>T) c.1773G>T (p.Ter591Tyr) c.2355G>T (p.Ter785Tyr) c.3459G>T (p.Ter1153Tyr) c.3135G>T (p.Ter1045Tyr) c.2028G>T (p.Ter676Tyr) c.2022G>T (p.Ter674Tyr) c.1881G>T (p.Ter627Tyr) c.1875G>T (p.Ter625Tyr) | dbSNP ExAC gnomAD v4 |
19 | g.8580893C= | CA2321494707 | ADAMTS10 | c.3312G= (p.Ter1104=) c.*2189G= (n.*2189G=) c.1773G= (p.Ter591=) c.2355G= (p.Ter785=) c.3459G= (p.Ter1153=) c.3135G= (p.Ter1045=) c.2028G= (p.Ter676=) c.2022G= (p.Ter674=) c.1881G= (p.Ter627=) c.1875G= (p.Ter625=) | |
19 | g.8580893C>G | CA403747759 | ADAMTS10 | c.3312G>C (p.Ter1104Tyr) c.*2189G>C (n.*2189G>C) c.1773G>C (p.Ter591Tyr) c.2355G>C (p.Ter785Tyr) c.3459G>C (p.Ter1153Tyr) c.3135G>C (p.Ter1045Tyr) c.2028G>C (p.Ter676Tyr) c.2022G>C (p.Ter674Tyr) c.1881G>C (p.Ter627Tyr) c.1875G>C (p.Ter625Tyr) | |
19 | g.8580893C>T | CA505262826 | ADAMTS10 | c.3312G>A (p.Ter1104=) c.*2189G>A (n.*2189G>A) c.1773G>A (p.Ter591=) c.2355G>A (p.Ter785=) c.3459G>A (p.Ter1153=) c.3135G>A (p.Ter1045=) c.2028G>A (p.Ter676=) c.2022G>A (p.Ter674=) c.1881G>A (p.Ter627=) c.1875G>A (p.Ter625=) | |
19 | g.8580894T>A | CA403747760 | ADAMTS10 | c.3311A>T (p.Ter1104Leu) c.*2188A>T (n.*2188A>T) c.1772A>T (p.Ter591Leu) c.2354A>T (p.Ter785Leu) c.3458A>T (p.Ter1153Leu) c.3134A>T (p.Ter1045Leu) c.2027A>T (p.Ter676Leu) c.2021A>T (p.Ter674Leu) c.1880A>T (p.Ter627Leu) c.1874A>T (p.Ter625Leu) | |
19 | g.8580894T>C | CA403747761 | ADAMTS10 | c.3311A>G (p.Ter1104Trp) c.*2188A>G (n.*2188A>G) c.1772A>G (p.Ter591Trp) c.2354A>G (p.Ter785Trp) c.3458A>G (p.Ter1153Trp) c.3134A>G (p.Ter1045Trp) c.2027A>G (p.Ter676Trp) c.2021A>G (p.Ter674Trp) c.1880A>G (p.Ter627Trp) c.1874A>G (p.Ter625Trp) | |
19 | g.8580894T>G | CA403747762 | ADAMTS10 | c.3311A>C (p.Ter1104Ser) c.*2188A>C (n.*2188A>C) c.1772A>C (p.Ter591Ser) c.2354A>C (p.Ter785Ser) c.3458A>C (p.Ter1153Ser) c.3134A>C (p.Ter1045Ser) c.2027A>C (p.Ter676Ser) c.2021A>C (p.Ter674Ser) c.1880A>C (p.Ter627Ser) c.1874A>C (p.Ter625Ser) | |
19 | g.8580895_8580903del | CA2695228046 | ADAMTS10 | c.3303_3311del (p.His1101_Ter1104delinsGln) c.*2180_*2188del (n.*2180_*2188del) c.1764_1772del (p.His588_Ter591delinsGln) c.2346_2354del (p.His782_Ter785delinsGln) c.3450_3458del (p.His1150_Ter1153delinsGln) c.3126_3134del (p.His1042_Ter1045delinsGln) c.2019_2027del (p.His673_Ter676delinsGln) c.2013_2021del (p.His671_Ter674delinsGln) c.1872_1880del (p.His624_Ter627delinsGln) c.1866_1874del (p.His622_Ter625delinsGln) | |
19 | g.8580895A= | CA2321494708 | ADAMTS10 | c.3310T= (p.Ter1104=) c.*2187T= (n.*2187T=) c.1771T= (p.Ter591=) c.2353T= (p.Ter785=) c.3457T= (p.Ter1153=) c.3133T= (p.Ter1045=) c.2026T= (p.Ter676=) c.2020T= (p.Ter674=) c.1879T= (p.Ter627=) c.1873T= (p.Ter625=) | |
19 | g.8580895A>C | CA403747763 | ADAMTS10 | c.3310T>G (p.Ter1104Glu) c.*2187T>G (n.*2187T>G) c.1771T>G (p.Ter591Glu) c.2353T>G (p.Ter785Glu) c.3457T>G (p.Ter1153Glu) c.3133T>G (p.Ter1045Glu) c.2026T>G (p.Ter676Glu) c.2020T>G (p.Ter674Glu) c.1879T>G (p.Ter627Glu) c.1873T>G (p.Ter625Glu) | |
19 | g.8580895A>G | CA403747764 | ADAMTS10 | c.3310T>C (p.Ter1104Gln) c.*2187T>C (n.*2187T>C) c.1771T>C (p.Ter591Gln) c.2353T>C (p.Ter785Gln) c.3457T>C (p.Ter1153Gln) c.3133T>C (p.Ter1045Gln) c.2026T>C (p.Ter676Gln) c.2020T>C (p.Ter674Gln) c.1879T>C (p.Ter627Gln) c.1873T>C (p.Ter625Gln) | gnomAD v4 |
19 | g.8580895A>T | CA9159941 | ADAMTS10 | c.3310T>A (p.Ter1104Lys) c.*2187T>A (n.*2187T>A) c.1771T>A (p.Ter591Lys) c.2353T>A (p.Ter785Lys) c.3457T>A (p.Ter1153Lys) c.3133T>A (p.Ter1045Lys) c.2026T>A (p.Ter676Lys) c.2020T>A (p.Ter674Lys) c.1879T>A (p.Ter627Lys) c.1873T>A (p.Ter625Lys) | dbSNP ExAC |
19 | g.8580896G>A | CA505262830 | ADAMTS10 | c.3309C>T (p.His1103=) c.*2186C>T (n.*2186C>T) c.1770C>T (p.His590=) c.2352C>T (p.His784=) c.3456C>T (p.His1152=) c.3132C>T (p.His1044=) c.2025C>T (p.His675=) c.2019C>T (p.His673=) c.1878C>T (p.His626=) c.1872C>T (p.His624=) | |
19 | g.8580896G>C | CA403747765 | ADAMTS10 | c.3309C>G (p.His1103Gln) c.*2186C>G (n.*2186C>G) c.1770C>G (p.His590Gln) c.2352C>G (p.His784Gln) c.3456C>G (p.His1152Gln) c.3132C>G (p.His1044Gln) c.2025C>G (p.His675Gln) c.2019C>G (p.His673Gln) c.1878C>G (p.His626Gln) c.1872C>G (p.His624Gln) | |
19 | g.8580896G>T | CA403747766 | ADAMTS10 | c.3309C>A (p.His1103Gln) c.*2186C>A (n.*2186C>A) c.1770C>A (p.His590Gln) c.2352C>A (p.His784Gln) c.3456C>A (p.His1152Gln) c.3132C>A (p.His1044Gln) c.2025C>A (p.His675Gln) c.2019C>A (p.His673Gln) c.1878C>A (p.His626Gln) c.1872C>A (p.His624Gln) | gnomAD v4 |
19 | g.8580897T>A | CA403747767 | ADAMTS10 | c.3308A>T (p.His1103Leu) c.*2185A>T (n.*2185A>T) c.1769A>T (p.His590Leu) c.2351A>T (p.His784Leu) c.3455A>T (p.His1152Leu) c.3131A>T (p.His1044Leu) c.2024A>T (p.His675Leu) c.2018A>T (p.His673Leu) c.1877A>T (p.His626Leu) c.1871A>T (p.His624Leu) | |
19 | g.8580897T>C | CA403747768 | ADAMTS10 | c.3308A>G (p.His1103Arg) c.*2185A>G (n.*2185A>G) c.1769A>G (p.His590Arg) c.2351A>G (p.His784Arg) c.3455A>G (p.His1152Arg) c.3131A>G (p.His1044Arg) c.2024A>G (p.His675Arg) c.2018A>G (p.His673Arg) c.1877A>G (p.His626Arg) c.1871A>G (p.His624Arg) | |
19 | g.8580897T>G | CA403747769 | ADAMTS10 | c.3308A>C (p.His1103Pro) c.*2185A>C (n.*2185A>C) c.1769A>C (p.His590Pro) c.2351A>C (p.His784Pro) c.3455A>C (p.His1152Pro) c.3131A>C (p.His1044Pro) c.2024A>C (p.His675Pro) c.2018A>C (p.His673Pro) c.1877A>C (p.His626Pro) c.1871A>C (p.His624Pro) | |
19 | g.8580898G>A | CA403747771 | ADAMTS10 | c.3307C>T (p.His1103Tyr) c.*2184C>T (n.*2184C>T) c.1768C>T (p.His590Tyr) c.2350C>T (p.His784Tyr) c.3454C>T (p.His1152Tyr) c.3130C>T (p.His1044Tyr) c.2023C>T (p.His675Tyr) c.2017C>T (p.His673Tyr) c.1876C>T (p.His626Tyr) c.1870C>T (p.His624Tyr) | |
19 | g.8580898G>C | CA403747772 | ADAMTS10 | c.3307C>G (p.His1103Asp) c.*2184C>G (n.*2184C>G) c.1768C>G (p.His590Asp) c.2350C>G (p.His784Asp) c.3454C>G (p.His1152Asp) c.3130C>G (p.His1044Asp) c.2023C>G (p.His675Asp) c.2017C>G (p.His673Asp) c.1876C>G (p.His626Asp) c.1870C>G (p.His624Asp) | gnomAD v4 |
19 | g.8580898G>T | CA403747770 | ADAMTS10 | c.3307C>A (p.His1103Asn) c.*2184C>A (n.*2184C>A) c.1768C>A (p.His590Asn) c.2350C>A (p.His784Asn) c.3454C>A (p.His1152Asn) c.3130C>A (p.His1044Asn) c.2023C>A (p.His675Asn) c.2017C>A (p.His673Asn) c.1876C>A (p.His626Asn) c.1870C>A (p.His624Asn) | gnomAD v4 |
19 | g.8580899del | CA2588116123 | ADAMTS10 | c.3307del (p.His1103ThrfsTer?) c.*2184del (n.*2184del) c.1768del (p.His590ThrfsTer?) c.2350del (p.His784ThrfsTer?) c.3454del (p.His1152ThrfsTer?) c.3130del (p.His1044ThrfsTer?) c.2023del (p.His675ThrfsTer?) c.2017del (p.His673ThrfsTer?) c.1876del (p.His626ThrfsTer?) c.1870del (p.His624ThrfsTer?) | gnomAD v4 |
19 | g.8580899G>A | CA9159942 | ADAMTS10 | c.3306C>T (p.Gly1102=) c.*2183C>T (n.*2183C>T) c.1767C>T (p.Gly589=) c.2349C>T (p.Gly783=) c.3453C>T (p.Gly1151=) c.3129C>T (p.Gly1043=) c.2022C>T (p.Gly674=) c.2016C>T (p.Gly672=) c.1875C>T (p.Gly625=) c.1869C>T (p.Gly623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580899G>C | CA505262838 | ADAMTS10 | c.3306C>G (p.Gly1102=) c.*2183C>G (n.*2183C>G) c.1767C>G (p.Gly589=) c.2349C>G (p.Gly783=) c.3453C>G (p.Gly1151=) c.3129C>G (p.Gly1043=) c.2022C>G (p.Gly674=) c.2016C>G (p.Gly672=) c.1875C>G (p.Gly625=) c.1869C>G (p.Gly623=) | |
19 | g.8580899G= | CA2321494709 | ADAMTS10 | c.3306C= (p.Gly1102=) c.*2183C= (n.*2183C=) c.1767C= (p.Gly589=) c.2349C= (p.Gly783=) c.3453C= (p.Gly1151=) c.3129C= (p.Gly1043=) c.2022C= (p.Gly674=) c.2016C= (p.Gly672=) c.1875C= (p.Gly625=) c.1869C= (p.Gly623=) | |
19 | g.8580899G>T | CA505262839 | ADAMTS10 | c.3306C>A (p.Gly1102=) c.*2183C>A (n.*2183C>A) c.1767C>A (p.Gly589=) c.2349C>A (p.Gly783=) c.3453C>A (p.Gly1151=) c.3129C>A (p.Gly1043=) c.2022C>A (p.Gly674=) c.2016C>A (p.Gly672=) c.1875C>A (p.Gly625=) c.1869C>A (p.Gly623=) | ClinVar dbSNP gnomAD v4 |
19 | g.8580900C>A | CA403747773 | ADAMTS10 | c.3305G>T (p.Gly1102Val) c.*2182G>T (n.*2182G>T) c.1766G>T (p.Gly589Val) c.2348G>T (p.Gly783Val) c.3452G>T (p.Gly1151Val) c.3128G>T (p.Gly1043Val) c.2021G>T (p.Gly674Val) c.2015G>T (p.Gly672Val) c.1874G>T (p.Gly625Val) c.1868G>T (p.Gly623Val) | |
19 | g.8580900C>G | CA403747774 | ADAMTS10 | c.3305G>C (p.Gly1102Ala) c.*2182G>C (n.*2182G>C) c.1766G>C (p.Gly589Ala) c.2348G>C (p.Gly783Ala) c.3452G>C (p.Gly1151Ala) c.3128G>C (p.Gly1043Ala) c.2021G>C (p.Gly674Ala) c.2015G>C (p.Gly672Ala) c.1874G>C (p.Gly625Ala) c.1868G>C (p.Gly623Ala) | |
19 | g.8580900C>T | CA403747775 | ADAMTS10 | c.3305G>A (p.Gly1102Asp) c.*2182G>A (n.*2182G>A) c.1766G>A (p.Gly589Asp) c.2348G>A (p.Gly783Asp) c.3452G>A (p.Gly1151Asp) c.3128G>A (p.Gly1043Asp) c.2021G>A (p.Gly674Asp) c.2015G>A (p.Gly672Asp) c.1874G>A (p.Gly625Asp) c.1868G>A (p.Gly623Asp) | |
19 | g.8580901C>A | CA403747776 | ADAMTS10 | c.3304G>T (p.Gly1102Cys) c.*2181G>T (n.*2181G>T) c.1765G>T (p.Gly589Cys) c.2347G>T (p.Gly783Cys) c.3451G>T (p.Gly1151Cys) c.3127G>T (p.Gly1043Cys) c.2020G>T (p.Gly674Cys) c.2014G>T (p.Gly672Cys) c.1873G>T (p.Gly625Cys) c.1867G>T (p.Gly623Cys) | |
19 | g.8580901C>G | CA403747777 | ADAMTS10 | c.3304G>C (p.Gly1102Arg) c.*2181G>C (n.*2181G>C) c.1765G>C (p.Gly589Arg) c.2347G>C (p.Gly783Arg) c.3451G>C (p.Gly1151Arg) c.3127G>C (p.Gly1043Arg) c.2020G>C (p.Gly674Arg) c.2014G>C (p.Gly672Arg) c.1873G>C (p.Gly625Arg) c.1867G>C (p.Gly623Arg) | |
19 | g.8580901C>T | CA403747778 | ADAMTS10 | c.3304G>A (p.Gly1102Ser) c.*2181G>A (n.*2181G>A) c.1765G>A (p.Gly589Ser) c.2347G>A (p.Gly783Ser) c.3451G>A (p.Gly1151Ser) c.3127G>A (p.Gly1043Ser) c.2020G>A (p.Gly674Ser) c.2014G>A (p.Gly672Ser) c.1873G>A (p.Gly625Ser) c.1867G>A (p.Gly623Ser) | gnomAD v4 |
19 | g.8580902A= | CA2321494710 | ADAMTS10 | c.3303T= (p.His1101=) c.*2180T= (n.*2180T=) c.1764T= (p.His588=) c.2346T= (p.His782=) c.3450T= (p.His1150=) c.3126T= (p.His1042=) c.2019T= (p.His673=) c.2013T= (p.His671=) c.1872T= (p.His624=) c.1866T= (p.His622=) | |
19 | g.8580902A>C | CA9159943 | ADAMTS10 | c.3303T>G (p.His1101Gln) c.*2180T>G (n.*2180T>G) c.1764T>G (p.His588Gln) c.2346T>G (p.His782Gln) c.3450T>G (p.His1150Gln) c.3126T>G (p.His1042Gln) c.2019T>G (p.His673Gln) c.2013T>G (p.His671Gln) c.1872T>G (p.His624Gln) c.1866T>G (p.His622Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580902A>G | CA505262847 | ADAMTS10 | c.3303T>C (p.His1101=) c.*2180T>C (n.*2180T>C) c.1764T>C (p.His588=) c.2346T>C (p.His782=) c.3450T>C (p.His1150=) c.3126T>C (p.His1042=) c.2019T>C (p.His673=) c.2013T>C (p.His671=) c.1872T>C (p.His624=) c.1866T>C (p.His622=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580902A>T | CA403747779 | ADAMTS10 | c.3303T>A (p.His1101Gln) c.*2180T>A (n.*2180T>A) c.1764T>A (p.His588Gln) c.2346T>A (p.His782Gln) c.3450T>A (p.His1150Gln) c.3126T>A (p.His1042Gln) c.2019T>A (p.His673Gln) c.2013T>A (p.His671Gln) c.1872T>A (p.His624Gln) c.1866T>A (p.His622Gln) | gnomAD v3 gnomAD v4 |
19 | g.8580903T>A | CA403747780 | ADAMTS10 | c.3302A>T (p.His1101Leu) c.*2179A>T (n.*2179A>T) c.1763A>T (p.His588Leu) c.2345A>T (p.His782Leu) c.3449A>T (p.His1150Leu) c.3125A>T (p.His1042Leu) c.2018A>T (p.His673Leu) c.2012A>T (p.His671Leu) c.1871A>T (p.His624Leu) c.1865A>T (p.His622Leu) | |
19 | g.8580903T>C | CA403747781 | ADAMTS10 | c.3302A>G (p.His1101Arg) c.*2179A>G (n.*2179A>G) c.1763A>G (p.His588Arg) c.2345A>G (p.His782Arg) c.3449A>G (p.His1150Arg) c.3125A>G (p.His1042Arg) c.2018A>G (p.His673Arg) c.2012A>G (p.His671Arg) c.1871A>G (p.His624Arg) c.1865A>G (p.His622Arg) | |
19 | g.8580903T>G | CA403747782 | ADAMTS10 | c.3302A>C (p.His1101Pro) c.*2179A>C (n.*2179A>C) c.1763A>C (p.His588Pro) c.2345A>C (p.His782Pro) c.3449A>C (p.His1150Pro) c.3125A>C (p.His1042Pro) c.2018A>C (p.His673Pro) c.2012A>C (p.His671Pro) c.1871A>C (p.His624Pro) c.1865A>C (p.His622Pro) | |
19 | g.8580904G>A | CA403747785 | ADAMTS10 | c.3301C>T (p.His1101Tyr) c.*2178C>T (n.*2178C>T) c.1762C>T (p.His588Tyr) c.2344C>T (p.His782Tyr) c.3448C>T (p.His1150Tyr) c.3124C>T (p.His1042Tyr) c.2017C>T (p.His673Tyr) c.2011C>T (p.His671Tyr) c.1870C>T (p.His624Tyr) c.1864C>T (p.His622Tyr) | |
19 | g.8580904G>C | CA403747784 | ADAMTS10 | c.3301C>G (p.His1101Asp) c.*2178C>G (n.*2178C>G) c.1762C>G (p.His588Asp) c.2344C>G (p.His782Asp) c.3448C>G (p.His1150Asp) c.3124C>G (p.His1042Asp) c.2017C>G (p.His673Asp) c.2011C>G (p.His671Asp) c.1870C>G (p.His624Asp) c.1864C>G (p.His622Asp) | |
19 | g.8580904G>T | CA403747783 | ADAMTS10 | c.3301C>A (p.His1101Asn) c.*2178C>A (n.*2178C>A) c.1762C>A (p.His588Asn) c.2344C>A (p.His782Asn) c.3448C>A (p.His1150Asn) c.3124C>A (p.His1042Asn) c.2017C>A (p.His673Asn) c.2011C>A (p.His671Asn) c.1870C>A (p.His624Asn) c.1864C>A (p.His622Asn) | gnomAD v4 |
19 | g.8580905del | CA2576607678 | ADAMTS10 | c.3301del (p.His1101MetfsTer?) c.*2178del (n.*2178del) c.1762del (p.His588MetfsTer?) c.2344del (p.His782MetfsTer?) c.3448del (p.His1150MetfsTer?) c.3124del (p.His1042MetfsTer?) c.2017del (p.His673MetfsTer?) c.2011del (p.His671MetfsTer?) c.1870del (p.His624MetfsTer?) c.1864del (p.His622MetfsTer?) | |
19 | g.8580905G>A | CA9159944 | ADAMTS10 | c.3300C>T (p.Cys1100=) c.*2177C>T (n.*2177C>T) c.1761C>T (p.Cys587=) c.2343C>T (p.Cys781=) c.3447C>T (p.Cys1149=) c.3123C>T (p.Cys1041=) c.2016C>T (p.Cys672=) c.2010C>T (p.Cys670=) c.1869C>T (p.Cys623=) c.1863C>T (p.Cys621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580905G>C | CA403747786 | ADAMTS10 | c.3300C>G (p.Cys1100Trp) c.*2177C>G (n.*2177C>G) c.1761C>G (p.Cys587Trp) c.2343C>G (p.Cys781Trp) c.3447C>G (p.Cys1149Trp) c.3123C>G (p.Cys1041Trp) c.2016C>G (p.Cys672Trp) c.2010C>G (p.Cys670Trp) c.1869C>G (p.Cys623Trp) c.1863C>G (p.Cys621Trp) | |
19 | g.8580905G= | CA2321494711 | ADAMTS10 | c.3300C= (p.Cys1100=) c.*2177C= (n.*2177C=) c.1761C= (p.Cys587=) c.2343C= (p.Cys781=) c.3447C= (p.Cys1149=) c.3123C= (p.Cys1041=) c.2016C= (p.Cys672=) c.2010C= (p.Cys670=) c.1869C= (p.Cys623=) c.1863C= (p.Cys621=) | |
19 | g.8580905G>T | CA403747787 | ADAMTS10 | c.3300C>A (p.Cys1100Ter) c.*2177C>A (n.*2177C>A) c.1761C>A (p.Cys587Ter) c.2343C>A (p.Cys781Ter) c.3447C>A (p.Cys1149Ter) c.3123C>A (p.Cys1041Ter) c.2016C>A (p.Cys672Ter) c.2010C>A (p.Cys670Ter) c.1869C>A (p.Cys623Ter) c.1863C>A (p.Cys621Ter) | gnomAD v4 |
19 | g.8580906C>A | CA403747788 | ADAMTS10 | c.3299G>T (p.Cys1100Phe) c.*2176G>T (n.*2176G>T) c.1760G>T (p.Cys587Phe) c.2342G>T (p.Cys781Phe) c.3446G>T (p.Cys1149Phe) c.3122G>T (p.Cys1041Phe) c.2015G>T (p.Cys672Phe) c.2009G>T (p.Cys670Phe) c.1868G>T (p.Cys623Phe) c.1862G>T (p.Cys621Phe) | gnomAD v4 |
19 | g.8580906C>G | CA403747789 | ADAMTS10 | c.3299G>C (p.Cys1100Ser) c.*2176G>C (n.*2176G>C) c.1760G>C (p.Cys587Ser) c.2342G>C (p.Cys781Ser) c.3446G>C (p.Cys1149Ser) c.3122G>C (p.Cys1041Ser) c.2015G>C (p.Cys672Ser) c.2009G>C (p.Cys670Ser) c.1868G>C (p.Cys623Ser) c.1862G>C (p.Cys621Ser) | |
19 | g.8580906C>T | CA403747791 | ADAMTS10 | c.3299G>A (p.Cys1100Tyr) c.*2176G>A (n.*2176G>A) c.1760G>A (p.Cys587Tyr) c.2342G>A (p.Cys781Tyr) c.3446G>A (p.Cys1149Tyr) c.3122G>A (p.Cys1041Tyr) c.2015G>A (p.Cys672Tyr) c.2009G>A (p.Cys670Tyr) c.1868G>A (p.Cys623Tyr) c.1862G>A (p.Cys621Tyr) | gnomAD v4 |
19 | g.8580907A>C | CA403747792 | ADAMTS10 | c.3298T>G (p.Cys1100Gly) c.*2175T>G (n.*2175T>G) c.1759T>G (p.Cys587Gly) c.2341T>G (p.Cys781Gly) c.3445T>G (p.Cys1149Gly) c.3121T>G (p.Cys1041Gly) c.2014T>G (p.Cys672Gly) c.2008T>G (p.Cys670Gly) c.1867T>G (p.Cys623Gly) c.1861T>G (p.Cys621Gly) | gnomAD v4 |
19 | g.8580907A>G | CA403747793 | ADAMTS10 | c.3298T>C (p.Cys1100Arg) c.*2175T>C (n.*2175T>C) c.1759T>C (p.Cys587Arg) c.2341T>C (p.Cys781Arg) c.3445T>C (p.Cys1149Arg) c.3121T>C (p.Cys1041Arg) c.2014T>C (p.Cys672Arg) c.2008T>C (p.Cys670Arg) c.1867T>C (p.Cys623Arg) c.1861T>C (p.Cys621Arg) | |
19 | g.8580907A>T | CA403747794 | ADAMTS10 | c.3298T>A (p.Cys1100Ser) c.*2175T>A (n.*2175T>A) c.1759T>A (p.Cys587Ser) c.2341T>A (p.Cys781Ser) c.3445T>A (p.Cys1149Ser) c.3121T>A (p.Cys1041Ser) c.2014T>A (p.Cys672Ser) c.2008T>A (p.Cys670Ser) c.1867T>A (p.Cys623Ser) c.1861T>A (p.Cys621Ser) | |
19 | g.8580908G>A | CA505262885 | ADAMTS10 | c.3297C>T (p.Thr1099=) c.*2174C>T (n.*2174C>T) c.1758C>T (p.Thr586=) c.2340C>T (p.Thr780=) c.3444C>T (p.Thr1148=) c.3120C>T (p.Thr1040=) c.2013C>T (p.Thr671=) c.2007C>T (p.Thr669=) c.1866C>T (p.Thr622=) c.1860C>T (p.Thr620=) | gnomAD v4 |
19 | g.8580908G>C | CA505262887 | ADAMTS10 | c.3297C>G (p.Thr1099=) c.*2174C>G (n.*2174C>G) c.1758C>G (p.Thr586=) c.2340C>G (p.Thr780=) c.3444C>G (p.Thr1148=) c.3120C>G (p.Thr1040=) c.2013C>G (p.Thr671=) c.2007C>G (p.Thr669=) c.1866C>G (p.Thr622=) c.1860C>G (p.Thr620=) | |
19 | g.8580908G>T | CA505262889 | ADAMTS10 | c.3297C>A (p.Thr1099=) c.*2174C>A (n.*2174C>A) c.1758C>A (p.Thr586=) c.2340C>A (p.Thr780=) c.3444C>A (p.Thr1148=) c.3120C>A (p.Thr1040=) c.2013C>A (p.Thr671=) c.2007C>A (p.Thr669=) c.1866C>A (p.Thr622=) c.1860C>A (p.Thr620=) | gnomAD v4 |
19 | g.8580909G>A | CA403747795 | ADAMTS10 | c.3296C>T (p.Thr1099Ile) c.*2173C>T (n.*2173C>T) c.1757C>T (p.Thr586Ile) c.2339C>T (p.Thr780Ile) c.3443C>T (p.Thr1148Ile) c.3119C>T (p.Thr1040Ile) c.2012C>T (p.Thr671Ile) c.2006C>T (p.Thr669Ile) c.1865C>T (p.Thr622Ile) c.1859C>T (p.Thr620Ile) | |
19 | g.8580909G>C | CA403747796 | ADAMTS10 | c.3296C>G (p.Thr1099Ser) c.*2173C>G (n.*2173C>G) c.1757C>G (p.Thr586Ser) c.2339C>G (p.Thr780Ser) c.3443C>G (p.Thr1148Ser) c.3119C>G (p.Thr1040Ser) c.2012C>G (p.Thr671Ser) c.2006C>G (p.Thr669Ser) c.1865C>G (p.Thr622Ser) c.1859C>G (p.Thr620Ser) | |
19 | g.8580909G>T | CA403747797 | ADAMTS10 | c.3296C>A (p.Thr1099Asn) c.*2173C>A (n.*2173C>A) c.1757C>A (p.Thr586Asn) c.2339C>A (p.Thr780Asn) c.3443C>A (p.Thr1148Asn) c.3119C>A (p.Thr1040Asn) c.2012C>A (p.Thr671Asn) c.2006C>A (p.Thr669Asn) c.1865C>A (p.Thr622Asn) c.1859C>A (p.Thr620Asn) | |
19 | g.8580910T>A | CA403747798 | ADAMTS10 | c.3295A>T (p.Thr1099Ser) c.*2172A>T (n.*2172A>T) c.1756A>T (p.Thr586Ser) c.2338A>T (p.Thr780Ser) c.3442A>T (p.Thr1148Ser) c.3118A>T (p.Thr1040Ser) c.2011A>T (p.Thr671Ser) c.2005A>T (p.Thr669Ser) c.1864A>T (p.Thr622Ser) c.1858A>T (p.Thr620Ser) | |
19 | g.8580910T>C | CA403747799 | ADAMTS10 | c.3295A>G (p.Thr1099Ala) c.*2172A>G (n.*2172A>G) c.1756A>G (p.Thr586Ala) c.2338A>G (p.Thr780Ala) c.3442A>G (p.Thr1148Ala) c.3118A>G (p.Thr1040Ala) c.2011A>G (p.Thr671Ala) c.2005A>G (p.Thr669Ala) c.1864A>G (p.Thr622Ala) c.1858A>G (p.Thr620Ala) | |
19 | g.8580910T>G | CA9159945 | ADAMTS10 | c.3295A>C (p.Thr1099Pro) c.*2172A>C (n.*2172A>C) c.1756A>C (p.Thr586Pro) c.2338A>C (p.Thr780Pro) c.3442A>C (p.Thr1148Pro) c.3118A>C (p.Thr1040Pro) c.2011A>C (p.Thr671Pro) c.2005A>C (p.Thr669Pro) c.1864A>C (p.Thr622Pro) c.1858A>C (p.Thr620Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580910T= | CA2321494712 | ADAMTS10 | c.3295A= (p.Thr1099=) c.*2172A= (n.*2172A=) c.1756A= (p.Thr586=) c.2338A= (p.Thr780=) c.3442A= (p.Thr1148=) c.3118A= (p.Thr1040=) c.2011A= (p.Thr671=) c.2005A= (p.Thr669=) c.1864A= (p.Thr622=) c.1858A= (p.Thr620=) | |
19 | g.8580913del | CA2576607679 | ADAMTS10 | c.3295del (p.Thr1099ProfsTer?) c.*2172del (n.*2172del) c.1756del (p.Thr586ProfsTer?) c.2338del (p.Thr780ProfsTer?) c.3442del (p.Thr1148ProfsTer?) c.3118del (p.Thr1040ProfsTer?) c.2011del (p.Thr671ProfsTer?) c.2005del (p.Thr669ProfsTer?) c.1864del (p.Thr622ProfsTer?) c.1858del (p.Thr620ProfsTer?) | gnomAD v4 |
19 | g.8580911T>A | CA403747800 | ADAMTS10 | c.3294A>T (p.Lys1098Asn) c.*2171A>T (n.*2171A>T) c.1755A>T (p.Lys585Asn) c.2337A>T (p.Lys779Asn) c.3441A>T (p.Lys1147Asn) c.3117A>T (p.Lys1039Asn) c.2010A>T (p.Lys670Asn) c.2004A>T (p.Lys668Asn) c.1863A>T (p.Lys621Asn) c.1857A>T (p.Lys619Asn) | |
19 | g.8580911T>C | CA505262906 | ADAMTS10 | c.3294A>G (p.Lys1098=) c.*2171A>G (n.*2171A>G) c.1755A>G (p.Lys585=) c.2337A>G (p.Lys779=) c.3441A>G (p.Lys1147=) c.3117A>G (p.Lys1039=) c.2010A>G (p.Lys670=) c.2004A>G (p.Lys668=) c.1863A>G (p.Lys621=) c.1857A>G (p.Lys619=) | |
19 | g.8580911T>G | CA403747801 | ADAMTS10 | c.3294A>C (p.Lys1098Asn) c.*2171A>C (n.*2171A>C) c.1755A>C (p.Lys585Asn) c.2337A>C (p.Lys779Asn) c.3441A>C (p.Lys1147Asn) c.3117A>C (p.Lys1039Asn) c.2010A>C (p.Lys670Asn) c.2004A>C (p.Lys668Asn) c.1863A>C (p.Lys621Asn) c.1857A>C (p.Lys619Asn) | |
19 | g.8580912T>A | CA403747802 | ADAMTS10 | c.3293A>T (p.Lys1098Ile) c.*2170A>T (n.*2170A>T) c.1754A>T (p.Lys585Ile) c.2336A>T (p.Lys779Ile) c.3440A>T (p.Lys1147Ile) c.3116A>T (p.Lys1039Ile) c.2009A>T (p.Lys670Ile) c.2003A>T (p.Lys668Ile) c.1862A>T (p.Lys621Ile) c.1856A>T (p.Lys619Ile) | |
19 | g.8580912T>C | CA403747803 | ADAMTS10 | c.3293A>G (p.Lys1098Arg) c.*2170A>G (n.*2170A>G) c.1754A>G (p.Lys585Arg) c.2336A>G (p.Lys779Arg) c.3440A>G (p.Lys1147Arg) c.3116A>G (p.Lys1039Arg) c.2009A>G (p.Lys670Arg) c.2003A>G (p.Lys668Arg) c.1862A>G (p.Lys621Arg) c.1856A>G (p.Lys619Arg) | |
19 | g.8580912T>G | CA403747804 | ADAMTS10 | c.3293A>C (p.Lys1098Thr) c.*2170A>C (n.*2170A>C) c.1754A>C (p.Lys585Thr) c.2336A>C (p.Lys779Thr) c.3440A>C (p.Lys1147Thr) c.3116A>C (p.Lys1039Thr) c.2009A>C (p.Lys670Thr) c.2003A>C (p.Lys668Thr) c.1862A>C (p.Lys621Thr) c.1856A>C (p.Lys619Thr) | |
19 | g.8580913T>A | CA403747805 | ADAMTS10 | c.3292A>T (p.Lys1098Ter) c.*2169A>T (n.*2169A>T) c.1753A>T (p.Lys585Ter) c.2335A>T (p.Lys779Ter) c.3439A>T (p.Lys1147Ter) c.3115A>T (p.Lys1039Ter) c.2008A>T (p.Lys670Ter) c.2002A>T (p.Lys668Ter) c.1861A>T (p.Lys621Ter) c.1855A>T (p.Lys619Ter) | |
19 | g.8580913T>C | CA403747806 | ADAMTS10 | c.3292A>G (p.Lys1098Glu) c.*2169A>G (n.*2169A>G) c.1753A>G (p.Lys585Glu) c.2335A>G (p.Lys779Glu) c.3439A>G (p.Lys1147Glu) c.3115A>G (p.Lys1039Glu) c.2008A>G (p.Lys670Glu) c.2002A>G (p.Lys668Glu) c.1861A>G (p.Lys621Glu) c.1855A>G (p.Lys619Glu) | |
19 | g.8580913T>G | CA403747807 | ADAMTS10 | c.3292A>C (p.Lys1098Gln) c.*2169A>C (n.*2169A>C) c.1753A>C (p.Lys585Gln) c.2335A>C (p.Lys779Gln) c.3439A>C (p.Lys1147Gln) c.3115A>C (p.Lys1039Gln) c.2008A>C (p.Lys670Gln) c.2002A>C (p.Lys668Gln) c.1861A>C (p.Lys621Gln) c.1855A>C (p.Lys619Gln) | gnomAD v4 |
19 | g.8580914G>A | CA505262921 | ADAMTS10 | c.3291C>T (p.Cys1097=) c.*2168C>T (n.*2168C>T) c.1752C>T (p.Cys584=) c.2334C>T (p.Cys778=) c.3438C>T (p.Cys1146=) c.3114C>T (p.Cys1038=) c.2007C>T (p.Cys669=) c.2001C>T (p.Cys667=) c.1860C>T (p.Cys620=) c.1854C>T (p.Cys618=) | |
19 | g.8580914G>C | CA403747808 | ADAMTS10 | c.3291C>G (p.Cys1097Trp) c.*2168C>G (n.*2168C>G) c.1752C>G (p.Cys584Trp) c.2334C>G (p.Cys778Trp) c.3438C>G (p.Cys1146Trp) c.3114C>G (p.Cys1038Trp) c.2007C>G (p.Cys669Trp) c.2001C>G (p.Cys667Trp) c.1860C>G (p.Cys620Trp) c.1854C>G (p.Cys618Trp) | |
19 | g.8580914G>T | CA403747809 | ADAMTS10 | c.3291C>A (p.Cys1097Ter) c.*2168C>A (n.*2168C>A) c.1752C>A (p.Cys584Ter) c.2334C>A (p.Cys778Ter) c.3438C>A (p.Cys1146Ter) c.3114C>A (p.Cys1038Ter) c.2007C>A (p.Cys669Ter) c.2001C>A (p.Cys667Ter) c.1860C>A (p.Cys620Ter) c.1854C>A (p.Cys618Ter) | |
19 | g.8580915C>A | CA403747810 | ADAMTS10 | c.3290G>T (p.Cys1097Phe) c.*2167G>T (n.*2167G>T) c.1751G>T (p.Cys584Phe) c.2333G>T (p.Cys778Phe) c.3437G>T (p.Cys1146Phe) c.3113G>T (p.Cys1038Phe) c.2006G>T (p.Cys669Phe) c.2000G>T (p.Cys667Phe) c.1859G>T (p.Cys620Phe) c.1853G>T (p.Cys618Phe) | |
19 | g.8580915C>G | CA403747811 | ADAMTS10 | c.3290G>C (p.Cys1097Ser) c.*2167G>C (n.*2167G>C) c.1751G>C (p.Cys584Ser) c.2333G>C (p.Cys778Ser) c.3437G>C (p.Cys1146Ser) c.3113G>C (p.Cys1038Ser) c.2006G>C (p.Cys669Ser) c.2000G>C (p.Cys667Ser) c.1859G>C (p.Cys620Ser) c.1853G>C (p.Cys618Ser) | |
19 | g.8580915C>T | CA403747812 | ADAMTS10 | c.3290G>A (p.Cys1097Tyr) c.*2167G>A (n.*2167G>A) c.1751G>A (p.Cys584Tyr) c.2333G>A (p.Cys778Tyr) c.3437G>A (p.Cys1146Tyr) c.3113G>A (p.Cys1038Tyr) c.2006G>A (p.Cys669Tyr) c.2000G>A (p.Cys667Tyr) c.1859G>A (p.Cys620Tyr) c.1853G>A (p.Cys618Tyr) | gnomAD v4 COSMIC |
19 | g.8580916A>C | CA403747815 | ADAMTS10 | c.3289T>G (p.Cys1097Gly) c.*2166T>G (n.*2166T>G) c.1750T>G (p.Cys584Gly) c.2332T>G (p.Cys778Gly) c.3436T>G (p.Cys1146Gly) c.3112T>G (p.Cys1038Gly) c.2005T>G (p.Cys669Gly) c.1999T>G (p.Cys667Gly) c.1858T>G (p.Cys620Gly) c.1852T>G (p.Cys618Gly) | |
19 | g.8580916A>G | CA403747814 | ADAMTS10 | c.3289T>C (p.Cys1097Arg) c.*2166T>C (n.*2166T>C) c.1750T>C (p.Cys584Arg) c.2332T>C (p.Cys778Arg) c.3436T>C (p.Cys1146Arg) c.3112T>C (p.Cys1038Arg) c.2005T>C (p.Cys669Arg) c.1999T>C (p.Cys667Arg) c.1858T>C (p.Cys620Arg) c.1852T>C (p.Cys618Arg) | gnomAD v4 |
19 | g.8580916A>T | CA403747813 | ADAMTS10 | c.3289T>A (p.Cys1097Ser) c.*2166T>A (n.*2166T>A) c.1750T>A (p.Cys584Ser) c.2332T>A (p.Cys778Ser) c.3436T>A (p.Cys1146Ser) c.3112T>A (p.Cys1038Ser) c.2005T>A (p.Cys669Ser) c.1999T>A (p.Cys667Ser) c.1858T>A (p.Cys620Ser) c.1852T>A (p.Cys618Ser) | |
19 | g.8580917G>A | CA505262938 | ADAMTS10 | c.3288C>T (p.Cys1096=) c.*2165C>T (n.*2165C>T) c.1749C>T (p.Cys583=) c.2331C>T (p.Cys777=) c.3435C>T (p.Cys1145=) c.3111C>T (p.Cys1037=) c.2004C>T (p.Cys668=) c.1998C>T (p.Cys666=) c.1857C>T (p.Cys619=) c.1851C>T (p.Cys617=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580917G>C | CA403747816 | ADAMTS10 | c.3288C>G (p.Cys1096Trp) c.*2165C>G (n.*2165C>G) c.1749C>G (p.Cys583Trp) c.2331C>G (p.Cys777Trp) c.3435C>G (p.Cys1145Trp) c.3111C>G (p.Cys1037Trp) c.2004C>G (p.Cys668Trp) c.1998C>G (p.Cys666Trp) c.1857C>G (p.Cys619Trp) c.1851C>G (p.Cys617Trp) | |
19 | g.8580917G= | CA2321494713 | ADAMTS10 | c.3288C= (p.Cys1096=) c.*2165C= (n.*2165C=) c.1749C= (p.Cys583=) c.2331C= (p.Cys777=) c.3435C= (p.Cys1145=) c.3111C= (p.Cys1037=) c.2004C= (p.Cys668=) c.1998C= (p.Cys666=) c.1857C= (p.Cys619=) c.1851C= (p.Cys617=) | |
19 | g.8580917G>T | CA403747817 | ADAMTS10 | c.3288C>A (p.Cys1096Ter) c.*2165C>A (n.*2165C>A) c.1749C>A (p.Cys583Ter) c.2331C>A (p.Cys777Ter) c.3435C>A (p.Cys1145Ter) c.3111C>A (p.Cys1037Ter) c.2004C>A (p.Cys668Ter) c.1998C>A (p.Cys666Ter) c.1857C>A (p.Cys619Ter) c.1851C>A (p.Cys617Ter) | gnomAD v4 |