Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169763862_169764683delinsATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT | CA1419635826 | |||
3 | g.169763867_169764687del | CA340670 | ClinVar dbSNP | ||
3 | g.169764240A= | CA1419636032 | |||
3 | g.169764240A>G | CA902377252 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764240_169764247delinsATTAAATG | CA1419636031 | |||
3 | g.169764241T>C | CA1056208669 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764241T= | CA1419636033 | |||
3 | g.169764248_169764254del | CA902377253 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764243A= | CA1419636034 | |||
3 | g.169764243A>C | CA1419636036 | dbSNP | ||
3 | g.169764243A>T | CA1419636035 | dbSNP | ||
3 | g.169764245A= | CA1419636037 | |||
3 | g.169764245A>C | CA87623240 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764246T>G | CA902377255 | dbSNP | ||
3 | g.169764246T= | CA1419636038 | |||
3 | g.169764248T>G | CA1419636040 | dbSNP | ||
3 | g.169764248T= | CA1419636039 | |||
3 | g.169764250A= | CA1419636041 | |||
3 | g.169764250A>C | CA1419636042 | dbSNP | ||
3 | g.169764250A>T | CA2704397477 | dbSNP | ||
3 | g.169764253T>A | CA87623243 | dbSNP | ||
3 | g.169764253T>C | CA902377257 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764253T= | CA1419636043 | |||
3 | g.169764254G>C | CA1419636045 | dbSNP | ||
3 | g.169764254G= | CA1419636044 | |||
3 | g.169764256T>C | CA87623258 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764256T= | CA1419636046 | |||
3 | g.169764261_169764266delinsCAAAAA | CA1419636047 | |||
3 | g.169764270dup | CA87623263 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764270del | CA1056208690 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764266_169764270del | CA902377261 | dbSNP | ||
3 | g.169764270_169764274delinsATGAC | CA1419636048 | |||
3 | g.169764271T>A | CA548332294 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764271T>C | CA87623276 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764271T= | CA1419636049 | |||
3 | g.169764273_169764276del | CA902377270 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764273A= | CA1419636050 | |||
3 | g.169764273A>G | CA87623288 | dbSNP | ||
3 | g.169764274C= | CA1419636051 | |||
3 | g.169764274C>T | CA87623295 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764274_169764275delinsCT | CA1419636052 | |||
3 | g.169764275del | CA1419636053 | dbSNP | ||
3 | g.169764277T>C | CA902377279 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764277T= | CA1419636054 | |||
3 | g.169764278_169764281delinsTCTC | CA1419636055 | |||
3 | g.169764279C= | CA1419636057 | |||
3 | g.169764279C>G | CA1419636056 | dbSNP | ||
3 | g.169764279C>T | CA2567035947 | dbSNP | ||
3 | g.169764280_169764282del | CA902377280 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764283_169764291del | CA1056208704 | gnomAD v3 gnomAD v4 | ||
3 | g.169764284A= | CA1419636058 | |||
3 | g.169764284A>C | CA87623296 | dbSNP | ||
3 | g.169764285del | CA1056208711 | gnomAD v3 gnomAD v4 | ||
3 | g.169764285C>A | CA902377283 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764285C= | CA1419636059 | |||
3 | g.169764285C>T | CA87623303 | dbSNP | ||
3 | g.169764287C>T | CA2704548840 | dbSNP | ||
3 | g.169764289C>A | CA1419636061 | dbSNP | ||
3 | g.169764289C= | CA1419636060 | |||
3 | g.169764291G>A | CA902377285 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764291G>C | CA1419636063 | dbSNP | ||
3 | g.169764291G= | CA1419636062 | |||
3 | g.169764293_169764294insTTTTAAT | CA1056208719 | gnomAD v3 gnomAD v4 | ||
3 | g.169764294G>C | CA1056208720 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764294G= | CA1419636064 | |||
3 | g.169764295_169764296insTAC | CA1056208722 | gnomAD v3 gnomAD v4 | ||
3 | g.169764296G>A | CA902377287 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764296G= | CA1419636065 | |||
3 | g.169764297G>A | CA1419636067 | dbSNP | ||
3 | g.169764297G= | CA1419636066 | |||
3 | g.169764297G>T | CA87623305 | dbSNP | ||
3 | g.169764298G>A | CA548332295 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764298G>C | CA1056208723 | gnomAD v3 gnomAD v4 | ||
3 | g.169764298G= | CA1419636068 | |||
3 | g.169764300A= | CA1419636069 | |||
3 | g.169764300A>T | CA1056208725 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764301C= | CA1419636070 | |||
3 | g.169764301C>T | CA1419636071 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764302_169764305del | CA548332296 | gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764303G>A | CA2704548844 | dbSNP | ||
3 | g.169764305T>C | CA1056208741 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764305T= | CA1419636072 | |||
3 | g.169764306C>A | CA1419636074 | dbSNP | ||
3 | g.169764306C= | CA1419636073 | |||
3 | g.169764306_169764307insACC | CA548332297 | gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764308A= | CA1419636075 | |||
3 | g.169764308A>G | CA1419636076 | dbSNP | ||
3 | g.169764309G>C | CA87623306 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764309G= | CA1419636077 | |||
3 | g.169764311T>C | CA548332298 | dbSNP gnomAD v2 | ||
3 | g.169764311T= | CA1419636078 | |||
3 | g.169764312C>A | CA548332299 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764312C= | CA1419636079 | |||
3 | g.169764312C>T | CA1419636080 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764314_169764315delinsAC | CA1419636081 | |||
3 | g.169764316del | CA548332300 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764316C= | CA1419636082 | |||
3 | g.169764316C>G | CA1419636083 | dbSNP | ||
3 | g.169764317T>C | CA87623313 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764317T= | CA1419636084 | |||
3 | g.169764318T>C | CA87623314 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764318T= | CA1419636085 | |||
3 | g.169764320G>A | CA548332301 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764320G= | CA1419636086 | |||
3 | g.169764321G>C | CA87623322 | dbSNP | ||
3 | g.169764321G= | CA1419636087 | |||
3 | g.169764323G>A | CA2704548847 | dbSNP | ||
3 | g.169764326G>C | CA902377302 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764326G= | CA1419636088 | |||
3 | g.169764327C>A | CA87623326 | dbSNP | ||
3 | g.169764327C= | CA1419636089 | |||
3 | g.169764328A= | CA1419636090 | |||
3 | g.169764328A>G | CA87623333 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764332del | CA2704548850 | dbSNP | ||
3 | g.169764331A= | CA1419636091 | |||
3 | g.169764331A>C | CA1419636092 | dbSNP | ||
3 | g.169764333C= | CA1419636093 | |||
3 | g.169764333C>T | CA1419636094 | dbSNP | ||
3 | g.169764334C= | CA1419636095 | |||
3 | g.169764334C>T | CA902377310 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764339C>T | CA2606324329 | dbSNP gnomAD v3 gnomAD v4 |