Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169763862_169764683delinsATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT | CA1419635826 | |||
3 | g.169763867_169764687del | CA340670 | ClinVar dbSNP | ||
3 | g.169764283_169764291del | CA1056208704 | gnomAD v3 gnomAD v4 | ||
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 | ||
3 | g.169764347G>A | CA11515839 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764347G= | CA1419636096 | |||
3 | g.169764348C>T | CA2704548892 | dbSNP | ||
3 | g.169764350G>A | CA2759342012 | |||
3 | g.169764350G>C | CA1056208758 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764350G= | CA1419636097 | |||
3 | g.169764352G>A | CA1419636098 | dbSNP | ||
3 | g.169764352G= | CA1419636099 | |||
3 | g.169764355G>C | CA1056208760 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764355G= | CA1419636100 | |||
3 | g.169764356G>C | CA902377311 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764356G= | CA1419636101 | |||
3 | g.169764356G>T | CA1056208763 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764358A= | CA1419636102 | |||
3 | g.169764358A>G | CA87623335 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764362A= | CA1419636103 | |||
3 | g.169764362A>G | CA1419636104 | dbSNP | ||
3 | g.169764363G>A | CA914868369 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764363G= | CA1419636105 | |||
3 | g.169764364T>C | CA902377312 | dbSNP | ||
3 | g.169764364T= | CA1419636106 | |||
3 | g.169764366G>A | CA1419636108 | dbSNP | ||
3 | g.169764366G= | CA1419636107 | |||
3 | g.169764366G>T | CA902377319 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764367T>C | CA87623337 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764367T= | CA1419636109 | |||
3 | g.169764370T>C | CA2606324331 | gnomAD v3 gnomAD v4 | ||
3 | g.169764372C>A | CA548332302 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764372C= | CA1419636110 | |||
3 | g.169764373A= | CA1419636111 | |||
3 | g.169764373A>G | CA548332303 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764374A= | CA1419636112 | |||
3 | g.169764374A>G | CA548332304 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764375C>G | CA2759342013 | |||
3 | g.169764376C>A | CA2668471959 | gnomAD v4 | ||
3 | g.169764382del | CA2668471960 | gnomAD v4 | ||
3 | g.169764382A= | CA1419636113 | |||
3 | g.169764382A>G | CA902377334 | dbSNP gnomAD v4 | ||
3 | g.169764384G>A | CA902377337 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764384G= | CA1419636114 | |||
3 | g.169764384G>T | CA2668471961 | gnomAD v4 | ||
3 | g.169764385C>A | CA2668471962 | gnomAD v4 | ||
3 | g.169764385C>T | CA2668471963 | gnomAD v4 |