Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.46821441C= | CA1455035686 | COX7B2 | c.-50+23519G= (n.-50+23519G=) c.-53+23519G= (n.-53+23519G=) | |
4 | g.46821441C>T | CA97208773 | COX7B2 | c.-50+23519G>A (n.-50+23519G>A) c.-53+23519G>A (n.-53+23519G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821442A= | CA1455035687 | COX7B2 | c.-50+23518T= (n.-50+23518T=) c.-53+23518T= (n.-53+23518T=) | |
4 | g.46821442A>T | CA551287802 | COX7B2 | c.-50+23518T>A (n.-50+23518T>A) c.-53+23518T>A (n.-53+23518T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821446C= | CA1455035688 | COX7B2 | c.-50+23514G= (n.-50+23514G=) c.-53+23514G= (n.-53+23514G=) | |
4 | g.46821446C>T | CA97208775 | COX7B2 | c.-50+23514G>A (n.-50+23514G>A) c.-53+23514G>A (n.-53+23514G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821448_46821451delinsCAAT | CA1455035689 | COX7B2 | c.-50+23509_-50+23512delinsATTG (n.-50+23509_-50+23512delinsATTG) c.-53+23509_-53+23512delinsATTG (n.-53+23509_-53+23512delinsATTG) | |
4 | g.46821451_46821453del | CA551287806 | COX7B2 | c.-50+23509_-50+23511del (n.-50+23509_-50+23511del) c.-53+23509_-53+23511del (n.-53+23509_-53+23511del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821451T>A | CA1455035692 | COX7B2 | c.-50+23509A>T (n.-50+23509A>T) c.-53+23509A>T (n.-53+23509A>T) | dbSNP |
4 | g.46821451T= | CA1455035691 | COX7B2 | c.-50+23509A= (n.-50+23509A=) c.-53+23509A= (n.-53+23509A=) | |
4 | g.46821451_46821452delinsTA | CA1455035690 | COX7B2 | c.-50+23508_-50+23509delinsTA (n.-50+23508_-50+23509delinsTA) c.-53+23508_-53+23509delinsTA (n.-53+23508_-53+23509delinsTA) | |
4 | g.46821453del | CA795441569 | COX7B2 | c.-50+23508del (n.-50+23508del) c.-53+23508del (n.-53+23508del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821454G>A | CA1455035694 | COX7B2 | c.-50+23506C>T (n.-50+23506C>T) c.-53+23506C>T (n.-53+23506C>T) | dbSNP |
4 | g.46821454G= | CA1455035693 | COX7B2 | c.-50+23506C= (n.-50+23506C=) c.-53+23506C= (n.-53+23506C=) | |
4 | g.46821455C>A | CA2564053157 | COX7B2 | c.-50+23505G>T (n.-50+23505G>T) c.-53+23505G>T (n.-53+23505G>T) | |
4 | g.46821459G= | CA1455035695 | COX7B2 | c.-50+23501C= (n.-50+23501C=) c.-53+23501C= (n.-53+23501C=) | |
4 | g.46821459G>T | CA1455035696 | COX7B2 | c.-50+23501C>A (n.-50+23501C>A) c.-53+23501C>A (n.-53+23501C>A) | dbSNP |
4 | g.46821461A>T | CA649358891 | COX7B2 | c.-50+23499T>A (n.-50+23499T>A) c.-53+23499T>A (n.-53+23499T>A) | COSMIC |
4 | g.46821462T>A | CA97208777 | COX7B2 | c.-50+23498A>T (n.-50+23498A>T) c.-53+23498A>T (n.-53+23498A>T) | dbSNP |
4 | g.46821462T>C | CA97208779 | COX7B2 | c.-50+23498A>G (n.-50+23498A>G) c.-53+23498A>G (n.-53+23498A>G) | dbSNP |
4 | g.46821462T= | CA1455035697 | COX7B2 | c.-50+23498A= (n.-50+23498A=) c.-53+23498A= (n.-53+23498A=) | |
4 | g.46821465T>C | CA97208781 | COX7B2 | c.-50+23495A>G (n.-50+23495A>G) c.-53+23495A>G (n.-53+23495A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821465T= | CA1455035698 | COX7B2 | c.-50+23495A= (n.-50+23495A=) c.-53+23495A= (n.-53+23495A=) | |
4 | g.46821468del | CA2705750028 | COX7B2 | c.-50+23493del (n.-50+23493del) c.-53+23493del (n.-53+23493del) | dbSNP |
4 | g.46821468A= | CA1455035699 | COX7B2 | c.-50+23492T= (n.-50+23492T=) c.-53+23492T= (n.-53+23492T=) | |
4 | g.46821468A>C | CA1455035700 | COX7B2 | c.-50+23492T>G (n.-50+23492T>G) c.-53+23492T>G (n.-53+23492T>G) | dbSNP |
4 | g.46821468A>G | CA1455035701 | COX7B2 | c.-50+23492T>C (n.-50+23492T>C) c.-53+23492T>C (n.-53+23492T>C) | dbSNP |
4 | g.46821470C>A | CA1455035703 | COX7B2 | c.-50+23490G>T (n.-50+23490G>T) c.-53+23490G>T (n.-53+23490G>T) | dbSNP |
4 | g.46821470C= | CA1455035702 | COX7B2 | c.-50+23490G= (n.-50+23490G=) c.-53+23490G= (n.-53+23490G=) | |
4 | g.46821471_46821480delinsCTATGCAGCA | CA1455035704 | COX7B2 | c.-50+23480_-50+23489delinsTGCTGCATAG (n.-50+23480_-50+23489delinsTGCTGCATAG) c.-53+23480_-53+23489delinsTGCTGCATAG (n.-53+23480_-53+23489delinsTGCTGCATAG) | |
4 | g.46821472_46821480del | CA1455035705 | COX7B2 | c.-50+23480_-50+23488del (n.-50+23480_-50+23488del) c.-53+23480_-53+23488del (n.-53+23480_-53+23488del) | dbSNP |
4 | g.46821474T>C | CA795441576 | COX7B2 | c.-50+23486A>G (n.-50+23486A>G) c.-53+23486A>G (n.-53+23486A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821474T= | CA1455035706 | COX7B2 | c.-50+23486A= (n.-50+23486A=) c.-53+23486A= (n.-53+23486A=) | |
4 | g.46821480_46821482delinsAGT | CA1455035707 | COX7B2 | c.-50+23478_-50+23480delinsACT (n.-50+23478_-50+23480delinsACT) c.-53+23478_-53+23480delinsACT (n.-53+23478_-53+23480delinsACT) | |
4 | g.46821485_46821486del | CA97208783 | COX7B2 | c.-50+23478_-50+23479del (n.-50+23478_-50+23479del) c.-53+23478_-53+23479del (n.-53+23478_-53+23479del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821483G>A | CA795441581 | COX7B2 | c.-50+23477C>T (n.-50+23477C>T) c.-53+23477C>T (n.-53+23477C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821483G= | CA1455035708 | COX7B2 | c.-50+23477C= (n.-50+23477C=) c.-53+23477C= (n.-53+23477C=) | |
4 | g.46821485G>A | CA1455035710 | COX7B2 | c.-50+23475C>T (n.-50+23475C>T) c.-53+23475C>T (n.-53+23475C>T) | dbSNP |
4 | g.46821485G= | CA1455035709 | COX7B2 | c.-50+23475C= (n.-50+23475C=) c.-53+23475C= (n.-53+23475C=) | |
4 | g.46821492G>A | CA1455035712 | COX7B2 | c.-50+23468C>T (n.-50+23468C>T) c.-53+23468C>T (n.-53+23468C>T) | dbSNP |
4 | g.46821492G= | CA1455035711 | COX7B2 | c.-50+23468C= (n.-50+23468C=) c.-53+23468C= (n.-53+23468C=) | |
4 | g.46821496T>G | CA97208785 | COX7B2 | c.-50+23464A>C (n.-50+23464A>C) c.-53+23464A>C (n.-53+23464A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821496T= | CA1455035713 | COX7B2 | c.-50+23464A= (n.-50+23464A=) c.-53+23464A= (n.-53+23464A=) | |
4 | g.46821497A= | CA1455035714 | COX7B2 | c.-50+23463T= (n.-50+23463T=) c.-53+23463T= (n.-53+23463T=) | |
4 | g.46821497A>T | CA97208787 | COX7B2 | c.-50+23463T>A (n.-50+23463T>A) c.-53+23463T>A (n.-53+23463T>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821499G>T | CA2705750048 | COX7B2 | c.-50+23461C>A (n.-50+23461C>A) c.-53+23461C>A (n.-53+23461C>A) | dbSNP |
4 | g.46821502C= | CA1455035715 | COX7B2 | c.-50+23458G= (n.-50+23458G=) c.-53+23458G= (n.-53+23458G=) | |
4 | g.46821502C>T | CA1455035716 | COX7B2 | c.-50+23458G>A (n.-50+23458G>A) c.-53+23458G>A (n.-53+23458G>A) | dbSNP |
4 | g.46821503T= | CA1455035717 | COX7B2 | c.-50+23457A= (n.-50+23457A=) c.-53+23457A= (n.-53+23457A=) | |
4 | g.46821505_46821506dup | CA1455035718 | COX7B2 | c.-50+23455_-50+23456dup (n.-50+23455_-50+23456dup) c.-53+23455_-53+23456dup (n.-53+23455_-53+23456dup) | dbSNP |
4 | g.46821505G>C | CA551287810 | COX7B2 | c.-50+23455C>G (n.-50+23455C>G) c.-53+23455C>G (n.-53+23455C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821505G= | CA1455035719 | COX7B2 | c.-50+23455C= (n.-50+23455C=) c.-53+23455C= (n.-53+23455C=) | |
4 | g.46821507T>C | CA1455035721 | COX7B2 | c.-50+23453A>G (n.-50+23453A>G) c.-53+23453A>G (n.-53+23453A>G) | dbSNP |
4 | g.46821507T= | CA1455035720 | COX7B2 | c.-50+23453A= (n.-50+23453A=) c.-53+23453A= (n.-53+23453A=) | |
4 | g.46821509C>A | CA1455035723 | COX7B2 | c.-50+23451G>T (n.-50+23451G>T) c.-53+23451G>T (n.-53+23451G>T) | dbSNP |
4 | g.46821509C= | CA1455035722 | COX7B2 | c.-50+23451G= (n.-50+23451G=) c.-53+23451G= (n.-53+23451G=) | |
4 | g.46821509C>T | CA97208789 | COX7B2 | c.-50+23451G>A (n.-50+23451G>A) c.-53+23451G>A (n.-53+23451G>A) | dbSNP |
4 | g.46821511G>A | CA1061914730 | COX7B2 | c.-50+23449C>T (n.-50+23449C>T) c.-53+23449C>T (n.-53+23449C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821511G= | CA1455035724 | COX7B2 | c.-50+23449C= (n.-50+23449C=) c.-53+23449C= (n.-53+23449C=) | |
4 | g.46821514T>C | CA795441594 | COX7B2 | c.-50+23446A>G (n.-50+23446A>G) c.-53+23446A>G (n.-53+23446A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821514T= | CA1455035725 | COX7B2 | c.-50+23446A= (n.-50+23446A=) c.-53+23446A= (n.-53+23446A=) | |
4 | g.46821520A>T | CA649358892 | COX7B2 | c.-50+23440T>A (n.-50+23440T>A) c.-53+23440T>A (n.-53+23440T>A) | COSMIC |
4 | g.46821525T>A | CA1455035727 | COX7B2 | c.-50+23435A>T (n.-50+23435A>T) c.-53+23435A>T (n.-53+23435A>T) | dbSNP |
4 | g.46821525T= | CA1455035726 | COX7B2 | c.-50+23435A= (n.-50+23435A=) c.-53+23435A= (n.-53+23435A=) | |
4 | g.46821526C= | CA1455035729 | COX7B2 | c.-50+23434G= (n.-50+23434G=) c.-53+23434G= (n.-53+23434G=) | |
4 | g.46821526C>G | CA1455035730 | COX7B2 | c.-50+23434G>C (n.-50+23434G>C) c.-53+23434G>C (n.-53+23434G>C) | dbSNP |
4 | g.46821526C>T | CA1061914744 | COX7B2 | c.-50+23434G>A (n.-50+23434G>A) c.-53+23434G>A (n.-53+23434G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821526_46821527delinsCT | CA1455035728 | COX7B2 | c.-50+23433_-50+23434delinsAG (n.-50+23433_-50+23434delinsAG) c.-53+23433_-53+23434delinsAG (n.-53+23433_-53+23434delinsAG) | |
4 | g.46821527del | CA551287811 | COX7B2 | c.-50+23433del (n.-50+23433del) c.-53+23433del (n.-53+23433del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821542_46821543insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTACCATTTACTTTTTT | CA1061914752 | COX7B2 | c.-50+23433_-50+23434insCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAAATGGTA (n.-50+23433_-50+23434insCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAAATGGTA) c.-53+23433_-53+23434insCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAAATGGTA (n.-53+23433_-53+23434insCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAAATGGTA) | gnomAD v3 gnomAD v4 |
4 | g.46821529C>A | CA795441600 | COX7B2 | c.-50+23431G>T (n.-50+23431G>T) c.-53+23431G>T (n.-53+23431G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821529C= | CA1455035731 | COX7B2 | c.-50+23431G= (n.-50+23431G=) c.-53+23431G= (n.-53+23431G=) | |
4 | g.46821530C= | CA1455035733 | COX7B2 | c.-50+23430G= (n.-50+23430G=) c.-53+23430G= (n.-53+23430G=) | |
4 | g.46821530C>T | CA1455035732 | COX7B2 | c.-50+23430G>A (n.-50+23430G>A) c.-53+23430G>A (n.-53+23430G>A) | dbSNP |
4 | g.46821535A= | CA1455035734 | COX7B2 | c.-50+23425T= (n.-50+23425T=) c.-53+23425T= (n.-53+23425T=) | |
4 | g.46821535A>C | CA551287813 | COX7B2 | c.-50+23425T>G (n.-50+23425T>G) c.-53+23425T>G (n.-53+23425T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821537T>A | CA1455035736 | COX7B2 | c.-50+23423A>T (n.-50+23423A>T) c.-53+23423A>T (n.-53+23423A>T) | dbSNP |
4 | g.46821537T= | CA1455035735 | COX7B2 | c.-50+23423A= (n.-50+23423A=) c.-53+23423A= (n.-53+23423A=) |