Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
4 | g.46821550G>A | CA795441603 | COX7B2 | c.-50+23410C>T (n.-50+23410C>T) c.-53+23410C>T (n.-53+23410C>T) | dbSNP |
4 | g.46821550G= | CA1455035737 | COX7B2 | c.-50+23410C= (n.-50+23410C=) c.-53+23410C= (n.-53+23410C=) | |
4 | g.46821551C>A | CA795441604 | COX7B2 | c.-50+23409G>T (n.-50+23409G>T) c.-53+23409G>T (n.-53+23409G>T) | dbSNP |
4 | g.46821551C= | CA1455035738 | COX7B2 | c.-50+23409G= (n.-50+23409G=) c.-53+23409G= (n.-53+23409G=) | |
4 | g.46821551C>G | CA1061914757 | COX7B2 | c.-50+23409G>C (n.-50+23409G>C) c.-53+23409G>C (n.-53+23409G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821551C>T | CA1455035739 | COX7B2 | c.-50+23409G>A (n.-50+23409G>A) c.-53+23409G>A (n.-53+23409G>A) | dbSNP |
4 | g.46821556C>A | CA97208791 | COX7B2 | c.-50+23404G>T (n.-50+23404G>T) c.-53+23404G>T (n.-53+23404G>T) | dbSNP |
4 | g.46821556C= | CA1455035740 | COX7B2 | c.-50+23404G= (n.-50+23404G=) c.-53+23404G= (n.-53+23404G=) | |
4 | g.46821568C>A | CA97208795 | COX7B2 | c.-50+23392G>T (n.-50+23392G>T) c.-53+23392G>T (n.-53+23392G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46821568C= | CA1455035741 | COX7B2 | c.-50+23392G= (n.-50+23392G=) c.-53+23392G= (n.-53+23392G=) | |
4 | g.46821573C>A | CA795441607 | COX7B2 | c.-50+23387G>T (n.-50+23387G>T) c.-53+23387G>T (n.-53+23387G>T) | dbSNP |
4 | g.46821573C= | CA1455035742 | COX7B2 | c.-50+23387G= (n.-50+23387G=) c.-53+23387G= (n.-53+23387G=) | |
4 | g.46821574A= | CA1455035743 | COX7B2 | c.-50+23386T= (n.-50+23386T=) c.-53+23386T= (n.-53+23386T=) | |
4 | g.46821574A>C | CA97208797 | COX7B2 | c.-50+23386T>G (n.-50+23386T>G) c.-53+23386T>G (n.-53+23386T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46821576C= | CA1455035744 | COX7B2 | c.-50+23384G= (n.-50+23384G=) c.-53+23384G= (n.-53+23384G=) | |
4 | g.46821576C>T | CA97208799 | COX7B2 | c.-50+23384G>A (n.-50+23384G>A) c.-53+23384G>A (n.-53+23384G>A) | dbSNP gnomAD v2 |
4 | g.46821578A= | CA1455035745 | COX7B2 | c.-50+23382T= (n.-50+23382T=) c.-53+23382T= (n.-53+23382T=) |