Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169763862_169764683delinsATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT | CA1419635826 | |||
3 | g.169763867_169764687del | CA340670 | ClinVar dbSNP | ||
3 | g.169764448C>A | CA2668472017 | gnomAD v4 | ||
3 | g.169764448C>T | CA2668472016 | gnomAD v4 | ||
3 | g.169764449C>A | CA2668472018 | gnomAD v4 | ||
3 | g.169764449C>G | CA2668472019 | gnomAD v4 | ||
3 | g.169764449_169764453delinsCCATT | CA1419636153 | |||
3 | g.169764454_169764457dup | CA902377380 | dbSNP | ||
3 | g.169764454_169764457del | CA548332308 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764452T>C | CA2668472020 | gnomAD v4 | ||
3 | g.169764452T>G | CA2668472021 | gnomAD v4 | ||
3 | g.169764453T>C | CA2668472022 | gnomAD v4 | ||
3 | g.169764453T>G | CA1419636155 | dbSNP gnomAD v4 | ||
3 | g.169764453T= | CA1419636154 | |||
3 | g.169764454C>T | CA2668472023 | gnomAD v4 | ||
3 | g.169764455A= | CA1419636156 | |||
3 | g.169764455A>C | CA87623452 | dbSNP | ||
3 | g.169764459del | CA2668472024 | gnomAD v4 | ||
3 | g.169764457T>G | CA2668472025 | gnomAD v4 | ||
3 | g.169764458T>C | CA2668472026 | dbSNP gnomAD v4 | ||
3 | g.169764458T>G | CA1419636158 | dbSNP gnomAD v4 | ||
3 | g.169764458T= | CA1419636157 | |||
3 | g.169764459T>A | CA2544580552 | |||
3 | g.169764459T>C | CA87623470 | dbSNP gnomAD v4 | ||
3 | g.169764459T= | CA1419636159 | |||
3 | g.169764460G>T | CA2668472027 | gnomAD v4 | ||
3 | g.169764461G>A | CA2668472029 | gnomAD v4 | ||
3 | g.169764461G>T | CA2668472028 | gnomAD v4 | ||
3 | g.169764462C>A | CA2516910525 | gnomAD v4 | ||
3 | g.169764462C>T | CA2668472030 | gnomAD v4 | ||
3 | g.169764463C>A | CA2668472031 | gnomAD v4 | ||
3 | g.169764463C= | CA1419636160 | |||
3 | g.169764463C>G | CA2548479075 | |||
3 | g.169764463C>T | CA902377385 | dbSNP gnomAD v4 | ||
3 | g.169764464G>A | CA87623478 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764464G= | CA1419636161 | |||
3 | g.169764464G>T | CA2668472032 | gnomAD v4 | ||
3 | g.169764466C>A | CA1056208792 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764466C= | CA1419636162 | |||
3 | g.169764466C>T | CA902377389 | dbSNP | ||
3 | g.169764469T>G | CA1419636164 | dbSNP | ||
3 | g.169764469T= | CA1419636163 | |||
3 | g.169764470G>T | CA2668472033 | gnomAD v4 | ||
3 | g.169764471G>C | CA1419636166 | dbSNP gnomAD v4 | ||
3 | g.169764471G= | CA1419636165 | |||
3 | g.169764472A>C | CA2668472034 | gnomAD v4 | ||
3 | g.169764472A>G | CA2668472035 | gnomAD v4 | ||
3 | g.169764472A>T | CA2759342017 | |||
3 | g.169764473G>A | CA87623480 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764473G= | CA1419636167 |