Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5045742C>A | CA383466827 | KCNA5 | c.1595C>A (p.Pro532Gln) | |
12 | g.5045742C= | CA2013431366 | KCNA5 | c.1595C= (p.Pro532=) | |
12 | g.5045742C>G | CA383466828 | KCNA5 | c.1595C>G (p.Pro532Arg) | |
12 | g.5045742C>T | CA6399898 | KCNA5 | c.1595C>T (p.Pro532Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045743G>A | CA6399899 | KCNA5 | c.1596G>A (p.Pro532=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045743G>C | CA478096207 | KCNA5 | c.1596G>C (p.Pro532=) | |
12 | g.5045743G= | CA2013431367 | KCNA5 | c.1596G= (p.Pro532=) | |
12 | g.5045743G>T | CA478096208 | KCNA5 | c.1596G>T (p.Pro532=) | COSMIC |
12 | g.5045744G>A | CA383466830 | KCNA5 | c.1597G>A (p.Ala533Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045744G>C | CA383466829 | KCNA5 | c.1597G>C (p.Ala533Pro) | |
12 | g.5045744G= | CA2013431368 | KCNA5 | c.1597G= (p.Ala533=) | |
12 | g.5045744G>T | CA6399900 | KCNA5 | c.1597G>T (p.Ala533Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045745C>A | CA383466831 | KCNA5 | c.1598C>A (p.Ala533Glu) | COSMIC |
12 | g.5045745C= | CA2013431369 | KCNA5 | c.1598C= (p.Ala533=) | |
12 | g.5045745C>G | CA383466832 | KCNA5 | c.1598C>G (p.Ala533Gly) | |
12 | g.5045745C>T | CA231869127 | KCNA5 | c.1598C>T (p.Ala533Val) | dbSNP gnomAD v4 COSMIC |
12 | g.5045746A= | CA2013431370 | KCNA5 | c.1599A= (p.Ala533=) | |
12 | g.5045746A>C | CA231869131 | KCNA5 | c.1599A>C (p.Ala533=) | dbSNP |
12 | g.5045746A>G | CA478095764 | KCNA5 | c.1599A>G (p.Ala533=) | |
12 | g.5045746A>T | CA478095763 | KCNA5 | c.1599A>T (p.Ala533=) | |
12 | g.5045747G>A | CA383466835 | KCNA5 | c.1600G>A (p.Val534Ile) | |
12 | g.5045747G>C | CA383466834 | KCNA5 | c.1600G>C (p.Val534Leu) | gnomAD v4 |
12 | g.5045747G>T | CA383466833 | KCNA5 | c.1600G>T (p.Val534Phe) | |
12 | g.5045748T>A | CA383466836 | KCNA5 | c.1601T>A (p.Val534Asp) | |
12 | g.5045748T>C | CA6399901 | KCNA5 | c.1601T>C (p.Val534Ala) | dbSNP ExAC gnomAD v2 |
12 | g.5045748T>G | CA383466837 | KCNA5 | c.1601T>G (p.Val534Gly) | COSMIC |
12 | g.5045748T= | CA2013431371 | KCNA5 | c.1601T= (p.Val534=) | |
12 | g.5045749C>A | CA478095766 | KCNA5 | c.1602C>A (p.Val534=) | |
12 | g.5045749C>G | CA478095767 | KCNA5 | c.1602C>G (p.Val534=) | |
12 | g.5045749C>T | CA478095768 | KCNA5 | c.1602C>T (p.Val534=) | gnomAD v4 |
12 | g.5045750C>A | CA383466838 | KCNA5 | c.1603C>A (p.Leu535Ile) | |
12 | g.5045750C>G | CA383466839 | KCNA5 | c.1603C>G (p.Leu535Val) | |
12 | g.5045750C>T | CA383466840 | KCNA5 | c.1603C>T (p.Leu535Phe) | gnomAD v4 COSMIC |
12 | g.5045751T>A | CA383466841 | KCNA5 | c.1604T>A (p.Leu535His) | |
12 | g.5045751T>C | CA383466843 | KCNA5 | c.1604T>C (p.Leu535Pro) | |
12 | g.5045751T>G | CA383466842 | KCNA5 | c.1604T>G (p.Leu535Arg) | COSMIC |
12 | g.5045752T>A | CA478095769 | KCNA5 | c.1605T>A (p.Leu535=) | |
12 | g.5045752T>C | CA478095771 | KCNA5 | c.1605T>C (p.Leu535=) | |
12 | g.5045752T>G | CA478095770 | KCNA5 | c.1605T>G (p.Leu535=) | |
12 | g.5045753A= | CA2013431372 | KCNA5 | c.1606A= (p.Lys536=) | |
12 | g.5045753A>C | CA383466844 | KCNA5 | c.1606A>C (p.Lys536Gln) | |
12 | g.5045753A>G | CA231869137 | KCNA5 | c.1606A>G (p.Lys536Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045753A>T | CA383466845 | KCNA5 | c.1606A>T (p.Lys536Ter) | dbSNP gnomAD v4 |
12 | g.5045754A>C | CA383466846 | KCNA5 | c.1607A>C (p.Lys536Thr) | |
12 | g.5045754A>G | CA383466847 | KCNA5 | c.1607A>G (p.Lys536Arg) | gnomAD v4 |
12 | g.5045754A>T | CA383466848 | KCNA5 | c.1607A>T (p.Lys536Met) | |
12 | g.5045755G>A | CA478095772 | KCNA5 | c.1608G>A (p.Lys536=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045755G>C | CA383466849 | KCNA5 | c.1608G>C (p.Lys536Asn) | |
12 | g.5045755G= | CA2013431373 | KCNA5 | c.1608G= (p.Lys536=) | |
12 | g.5045755G>T | CA383466850 | KCNA5 | c.1608G>T (p.Lys536Asn) |