Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169763862_169764683delinsATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT | CA1419635826 | |||
3 | g.169763867_169764687del | CA340670 | ClinVar dbSNP | ||
3 | g.169764546A>C | CA436714510 | gnomAD v4 | ||
3 | g.169764546A>G | CA436714511 | gnomAD v4 | ||
3 | g.169764546A>T | CA436714512 | |||
3 | g.169764547T>A | CA87623520 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764547T>C | CA11427621 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764547T>G | CA436714514 | dbSNP gnomAD v4 | ||
3 | g.169764547T= | CA1419636209 | |||
3 | g.169764548del | CA2668472079 | gnomAD v4 | ||
3 | g.169764548T>A | CA436714516 | |||
3 | g.169764548T>C | CA87623528 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764548T>G | CA436714517 | |||
3 | g.169764548T= | CA1419636210 | |||
3 | g.169764549G>A | CA436714518 | gnomAD v4 | ||
3 | g.169764549G>C | CA436714519 | |||
3 | g.169764549G>T | CA436714520 | gnomAD v4 | ||
3 | g.169764550C>A | CA436714521 | gnomAD v4 | ||
3 | g.169764550C>G | CA436714522 | |||
3 | g.169764550C>T | CA436714523 | gnomAD v4 | ||
3 | g.169764551C>A | CA436714524 | gnomAD v4 | ||
3 | g.169764551C= | CA1419636211 | |||
3 | g.169764551C>G | CA436714525 | |||
3 | g.169764551C>T | CA436714526 | dbSNP gnomAD v4 | ||
3 | g.169764552G>A | CA436714529 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764552G>C | CA436714530 | dbSNP | ||
3 | g.169764552G= | CA1419636212 | |||
3 | g.169764552G>T | CA436714528 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764553G>A | CA436714532 | gnomAD v4 | ||
3 | g.169764553G>C | CA436714531 | |||
3 | g.169764553G>T | CA436714533 | gnomAD v4 | ||
3 | g.169764554C>A | CA436714534 | gnomAD v4 | ||
3 | g.169764554C>G | CA436714535 | |||
3 | g.169764554C>T | CA436714537 | gnomAD v4 | ||
3 | g.169764555G>A | CA436714538 | gnomAD v4 | ||
3 | g.169764555G>C | CA436714539 | gnomAD v4 | ||
3 | g.169764555G>T | CA436714540 | |||
3 | g.169764556A>C | CA436714542 | |||
3 | g.169764556A>G | CA436714543 | |||
3 | g.169764556A>T | CA436714544 | dbSNP | ||
3 | g.169764557G>A | CA436714545 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764557G>C | CA436714546 | gnomAD v4 | ||
3 | g.169764557G= | CA1419636213 | |||
3 | g.169764557G>T | CA436714547 | gnomAD v4 | ||
3 | g.169764557_169764560del | CA2668472083 | gnomAD v4 | ||
3 | g.169764560dup | CA2668472084 | gnomAD v4 | ||
3 | g.169764560del | CA2668472085 | gnomAD v4 | ||
3 | g.169764559_169764560del | CA2668472080 | gnomAD v4 | ||
3 | g.169764558_169764560del | CA2668472082 | gnomAD v4 | ||
3 | g.169764558_169764562del | CA2668472081 | gnomAD v4 |