Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169763862_169764683delinsATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT | CA1419635826 | |||
3 | g.169763867_169764687del | CA340670 | ClinVar dbSNP | ||
3 | g.169764580_169764582del | CA2668472135 | gnomAD v4 | ||
3 | g.169764580G>A | CA2696775 | dbSNP ExAC gnomAD v2 gnomAD v4 | ||
3 | g.169764580G>C | CA436714610 | gnomAD v4 | ||
3 | g.169764580G= | CA1419636224 | |||
3 | g.169764580G>T | CA436714609 | |||
3 | g.169764581C>A | CA436714611 | gnomAD v4 | ||
3 | g.169764581C>G | CA436714612 | |||
3 | g.169764581C>T | CA436714613 | dbSNP gnomAD v4 | ||
3 | g.169764582G>A | CA2696776 | dbSNP ExAC gnomAD v2 gnomAD v4 | ||
3 | g.169764582G>C | CA436714614 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764582G= | CA1419636225 | |||
3 | g.169764582G>T | CA436714615 | |||
3 | g.169764583T>A | CA436714616 | |||
3 | g.169764583T>C | CA436714617 | dbSNP gnomAD v2 gnomAD v4 | ||
3 | g.169764583T>G | CA436714618 | gnomAD v4 | ||
3 | g.169764583T= | CA1419636226 | |||
3 | g.169764583_169764584insA | CA2668472136 | gnomAD v4 | ||
3 | g.169764584T>A | CA436714619 | |||
3 | g.169764584T>C | CA436714620 | gnomAD v4 | ||
3 | g.169764584T>G | CA436714621 | |||
3 | g.169764584_169764587del | CA2668472137 | gnomAD v4 | ||
3 | g.169764584_169764587delinsTCCC | CA1419636227 | |||
3 | g.169764585C>A | CA436714624 | gnomAD v4 | ||
3 | g.169764585C= | CA1419636228 | |||
3 | g.169764585C>G | CA436714622 | gnomAD v4 | ||
3 | g.169764585C>T | CA436714623 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764590dup | CA87623596 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764590del | CA902377489 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764588_169764590del | CA87623597 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764586_169764590del | CA2668472139 | gnomAD v4 | ||
3 | g.169764585_169764593del | CA2668472138 | gnomAD v4 | ||
3 | g.169764586C>A | CA436714625 | gnomAD v4 | ||
3 | g.169764586C>G | CA436714626 | gnomAD v4 | ||
3 | g.169764586C>T | CA436714627 | gnomAD v4 | ||
3 | g.169764587C>A | CA436714628 | |||
3 | g.169764587C>G | CA436714629 | |||
3 | g.169764587C>T | CA436714630 | |||
3 | g.169764588C>A | CA436714631 | gnomAD v4 | ||
3 | g.169764588C>G | CA436714632 | |||
3 | g.169764588C>T | CA436714633 | |||
3 | g.169764588_169764591delinsCCCA | CA1419636229 | |||
3 | g.169764589C>A | CA436714634 | gnomAD v4 | ||
3 | g.169764589C= | CA1419636230 | |||
3 | g.169764589C>G | CA2696778 | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764589C>T | CA436714635 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764592_169764594del | CA2696777 | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764590C>A | CA436714638 | gnomAD v4 | ||
3 | g.169764590C>G | CA436714636 |