Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169763862_169764683delinsATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT | CA1419635826 | |||
3 | g.169763867_169764687del | CA340670 | ClinVar dbSNP | ||
3 | g.169764611C>A | CA436714693 | TERC | n.450G>T | gnomAD v4 |
3 | g.169764611C= | CA1419636240 | TERC | n.450G= | |
3 | g.169764611C>G | CA436714692 | TERC | n.450G>C | |
3 | g.169764611C>T | CA343768 | TERC | n.450G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.169764611dup | CA2697556977 | TERC | n.450dup | ClinVar |
3 | g.169764612A>C | CA436714694 | TERC | n.449T>G | ClinVar dbSNP |
3 | g.169764612A>G | CA436714695 | TERC | n.449T>C | gnomAD v4 |
3 | g.169764612A>T | CA436714696 | TERC | n.449T>A | |
3 | g.169764612_169764615dup | CA1419636241 | TERC | n.446_449dup | ClinVar dbSNP |
3 | g.169764613T>A | CA436714697 | TERC | n.448A>T | |
3 | g.169764613T>C | CA436714698 | TERC | n.448A>G | |
3 | g.169764613T>G | CA436714699 | TERC | n.448A>C | |
3 | g.169764614G>A | CA436714700 | TERC | n.447C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.169764614G>C | CA436714701 | TERC | n.447C>G | |
3 | g.169764614G= | CA1419636242 | TERC | n.447C= | |
3 | g.169764614G>T | CA436714702 | TERC | n.447C>A | |
3 | g.169764615T>A | CA436714703 | TERC | n.446A>T | |
3 | g.169764615T>C | CA436714704 | TERC | n.446A>G | |
3 | g.169764615T>G | CA436714705 | TERC | n.446A>C | |
3 | g.169764616G>A | CA436714707 | TERC | n.445C>T | |
3 | g.169764616G>C | CA436714708 | TERC | n.445C>G | |
3 | g.169764616G>T | CA436714706 | TERC | n.445C>A | |
3 | g.169764617T>A | CA436714709 | TERC | n.444A>T | |
3 | g.169764617T>C | CA436714710 | TERC | n.444A>G | ClinVar dbSNP |
3 | g.169764617T>G | CA436714711 | TERC | n.444A>C | |
3 | g.169764617T= | CA1419636243 | TERC | n.444A= | |
3 | g.169764618G>A | CA436714712 | TERC | n.443C>T | |
3 | g.169764618G>C | CA436714713 | TERC | n.443C>G | |
3 | g.169764618G= | CA1419636244 | TERC | n.443C= | |
3 | g.169764618G>T | CA436714714 | TERC | n.443C>A | ClinVar dbSNP |
3 | g.169764621_169764625del | CA2586965929 | TERC | n.439_443del | |
3 | g.169764619A>C | CA436714717 | TERC | n.442T>G | |
3 | g.169764619A>G | CA436714715 | TERC | n.442T>C | gnomAD v4 |
3 | g.169764619A>T | CA436714716 | TERC | n.442T>A | |
3 | g.169764620G>A | CA436714718 | TERC | n.441C>T | gnomAD v4 |
3 | g.169764620G>C | CA436714719 | TERC | n.441C>G | |
3 | g.169764620G>T | CA436714720 | TERC | n.441C>A | |
3 | g.169764621C>A | CA436714721 | TERC | n.440G>T | gnomAD v4 |
3 | g.169764621C>G | CA436714722 | TERC | n.440G>C | |
3 | g.169764621C>T | CA436714723 | TERC | n.440G>A | ClinVar dbSNP gnomAD v4 |
3 | g.169764622C>A | CA436714724 | TERC | n.439G>T | |
3 | g.169764622C= | CA1419636245 | TERC | n.439G= | |
3 | g.169764622C>G | CA436714726 | TERC | n.439G>C | ClinVar dbSNP |
3 | g.169764622C>T | CA436714725 | TERC | n.439G>A | ClinVar dbSNP gnomAD v4 |
3 | g.169764623G>A | CA436714727 | TERC | n.438C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.169764623G>C | CA436714728 | TERC | n.438C>G | |
3 | g.169764623G= | CA1419636246 | TERC | n.438C= | |
3 | g.169764623G>T | CA436714729 | TERC | n.438C>A |