12 | g.5045739A>C | CA383466819 | KCNA5 | c.1592A>C (p.Glu531Ala)
| |
12 | g.5045739A>G | CA383466820 | KCNA5 | c.1592A>G (p.Glu531Gly)
| gnomAD v4 |
12 | g.5045739A>T | CA383466821 | KCNA5 | c.1592A>T (p.Glu531Val)
| |
12 | g.5045740G>A | CA478096197 | KCNA5 | c.1593G>A (p.Glu531=)
| |
12 | g.5045740G>C | CA383466822 | KCNA5 | c.1593G>C (p.Glu531Asp)
| |
12 | g.5045740G>T | CA383466823 | KCNA5 | c.1593G>T (p.Glu531Asp)
| |
12 | g.5045741C>A | CA383466824 | KCNA5 | c.1594C>A (p.Pro532Thr)
| |
12 | g.5045741C>G | CA383466825 | KCNA5 | c.1594C>G (p.Pro532Ala)
| |
12 | g.5045741C>T | CA383466826 | KCNA5 | c.1594C>T (p.Pro532Ser)
| |
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)
| |
12 | g.5045756G>A | CA6399902 | KCNA5 | c.1609G>A (p.Glu537Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045756G>C | CA383466851 | KCNA5 | c.1609G>C (p.Glu537Gln)
| |
12 | g.5045756G= | CA2013431374 | KCNA5 | c.1609G= (p.Glu537=)
| |
12 | g.5045756G>T | CA383466852 | KCNA5 | c.1609G>T (p.Glu537Ter)
| |
12 | g.5045757A>C | CA383466853 | KCNA5 | c.1610A>C (p.Glu537Ala)
| |
12 | g.5045757A>G | CA383466855 | KCNA5 | c.1610A>G (p.Glu537Gly)
| |
12 | g.5045757A>T | CA383466854 | KCNA5 | c.1610A>T (p.Glu537Val)
| |
12 | g.5045758A= | CA2013431375 | KCNA5 | c.1611A= (p.Glu537=)
| |
12 | g.5045758A>C | CA383466856 | KCNA5 | c.1611A>C (p.Glu537Asp)
| |
12 | g.5045758A>G | CA6399903 | KCNA5 | c.1611A>G (p.Glu537=)
| dbSNP ExAC gnomAD v2 |
12 | g.5045758A>T | CA383466857 | KCNA5 | c.1611A>T (p.Glu537Asp)
| |
12 | g.5045759G>A | CA383466858 | KCNA5 | c.1612G>A (p.Glu538Lys)
| COSMIC |
12 | g.5045759G>C | CA231869167 | KCNA5 | c.1612G>C (p.Glu538Gln)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045759G= | CA2013431376 | KCNA5 | c.1612G= (p.Glu538=)
| |
12 | g.5045759G>T | CA383466859 | KCNA5 | c.1612G>T (p.Glu538Ter)
| |
12 | g.5045760A>C | CA383466860 | KCNA5 | c.1613A>C (p.Glu538Ala)
| |
12 | g.5045760A>G | CA383466861 | KCNA5 | c.1613A>G (p.Glu538Gly)
| |
12 | g.5045760A>T | CA383466862 | KCNA5 | c.1613A>T (p.Glu538Val)
| |
12 | g.5045761G>A | CA478095777 | KCNA5 | c.1614G>A (p.Glu538=)
| COSMIC |
12 | g.5045761G>C | CA383466863 | KCNA5 | c.1614G>C (p.Glu538Asp)
| |
12 | g.5045761G>T | CA383466864 | KCNA5 | c.1614G>T (p.Glu538Asp)
| |
12 | g.5045762C>A | CA383466865 | KCNA5 | c.1615C>A (p.Gln539Lys)
| |
12 | g.5045762C>G | CA383466866 | KCNA5 | c.1615C>G (p.Gln539Glu)
| |
12 | g.5045762C>T | CA383466867 | KCNA5 | c.1615C>T (p.Gln539Ter)
| gnomAD v4 |
12 | g.5045763A>C | CA383466870 | KCNA5 | c.1616A>C (p.Gln539Pro)
| |
12 | g.5045763A>G | CA383466869 | KCNA5 | c.1616A>G (p.Gln539Arg)
| |
12 | g.5045763A>T | CA383466868 | KCNA5 | c.1616A>T (p.Gln539Leu)
| |
12 | g.5045764G>A | CA6399905 | KCNA5 | c.1617G>A (p.Gln539=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045764G>C | CA383466871 | KCNA5 | c.1617G>C (p.Gln539His)
| |
12 | g.5045764G= | CA2013431377 | KCNA5 | c.1617G= (p.Gln539=)
| |
12 | g.5045764G>T | CA383466872 | KCNA5 | c.1617G>T (p.Gln539His)
| |
12 | g.5045764_5045765insTCCTTAAGGAGCCT | CA6399904 | KCNA5 | c.1617_1618insTCCTTAAGGAGCCT (p.Gly540SerfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045765G>A | CA383466873 | KCNA5 | c.1618G>A (p.Gly540Ser)
| dbSNP gnomAD v2 |
12 | g.5045765G>C | CA383466874 | KCNA5 | c.1618G>C (p.Gly540Arg)
| |
12 | g.5045765G= | CA2013431378 | KCNA5 | c.1618G= (p.Gly540=)
| |
12 | g.5045765G>T | CA383466875 | KCNA5 | c.1618G>T (p.Gly540Cys)
| COSMIC |
12 | g.5045766G>A | CA383466876 | KCNA5 | c.1619G>A (p.Gly540Asp)
| ClinVar gnomAD v4 COSMIC |
12 | g.5045766G>C | CA383466877 | KCNA5 | c.1619G>C (p.Gly540Ala)
| gnomAD v4 |
12 | g.5045766G= | CA2013431379 | KCNA5 | c.1619G= (p.Gly540=)
| |
12 | g.5045766G>T | CA6399906 | KCNA5 | c.1619G>T (p.Gly540Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045767del | CA645578790 | KCNA5 | c.1620del (p.Thr541LeufsTer?)
| COSMIC |
12 | g.5045767C>A | CA478095782 | KCNA5 | c.1620C>A (p.Gly540=)
| gnomAD v4 |
12 | g.5045767C= | CA2013431380 | KCNA5 | c.1620C= (p.Gly540=)
| |
12 | g.5045767C>G | CA6399907 | KCNA5 | c.1620C>G (p.Gly540=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045767C>T | CA478095783 | KCNA5 | c.1620C>T (p.Gly540=)
| dbSNP gnomAD v4 |
12 | g.5045768A>C | CA383466878 | KCNA5 | c.1621A>C (p.Thr541Pro)
| |
12 | g.5045768A>G | CA383466879 | KCNA5 | c.1621A>G (p.Thr541Ala)
| |
12 | g.5045768A>T | CA383466880 | KCNA5 | c.1621A>T (p.Thr541Ser)
| |
12 | g.5045769C>A | CA383466881 | KCNA5 | c.1622C>A (p.Thr541Asn)
| |
12 | g.5045769C= | CA2013431381 | KCNA5 | c.1622C= (p.Thr541=)
| |
12 | g.5045769C>G | CA383466882 | KCNA5 | c.1622C>G (p.Thr541Ser)
| dbSNP gnomAD v4 |
12 | g.5045769C>T | CA6399908 | KCNA5 | c.1622C>T (p.Thr541Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045770T>A | CA478095784 | KCNA5 | c.1623T>A (p.Thr541=)
| |
12 | g.5045770T>C | CA478095786 | KCNA5 | c.1623T>C (p.Thr541=)
| gnomAD v4 |
12 | g.5045770T>G | CA478095785 | KCNA5 | c.1623T>G (p.Thr541=)
| |
12 | g.5045771C>A | CA383466883 | KCNA5 | c.1624C>A (p.Gln542Lys)
| COSMIC |
12 | g.5045771C>G | CA383466884 | KCNA5 | c.1624C>G (p.Gln542Glu)
| |
12 | g.5045771C>T | CA383466885 | KCNA5 | c.1624C>T (p.Gln542Ter)
| |
12 | g.5045772A>C | CA383466886 | KCNA5 | c.1625A>C (p.Gln542Pro)
| |
12 | g.5045772A>G | CA383466887 | KCNA5 | c.1625A>G (p.Gln542Arg)
| |
12 | g.5045772A>T | CA383466888 | KCNA5 | c.1625A>T (p.Gln542Leu)
| |
12 | g.5045773G>A | CA478095787 | KCNA5 | c.1626G>A (p.Gln542=)
| gnomAD v4 |
12 | g.5045773G>C | CA383466889 | KCNA5 | c.1626G>C (p.Gln542His)
| gnomAD v4 |
12 | g.5045773G= | CA2013431382 | KCNA5 | c.1626G= (p.Gln542=)
| |
12 | g.5045773G>T | CA231869181 | KCNA5 | c.1626G>T (p.Gln542His)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045774A= | CA2013431383 | KCNA5 | c.1627A= (p.Ser543=)
| |
12 | g.5045774A>C | CA383466890 | KCNA5 | c.1627A>C (p.Ser543Arg)
| |
12 | g.5045774A>G | CA383466891 | KCNA5 | c.1627A>G (p.Ser543Gly)
| dbSNP |
12 | g.5045774A>T | CA383466892 | KCNA5 | c.1627A>T (p.Ser543Cys)
| |
12 | g.5045775G>A | CA6399909 | KCNA5 | c.1628G>A (p.Ser543Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045775G>C | CA383466893 | KCNA5 | c.1628G>C (p.Ser543Thr)
| |
12 | g.5045775G= | CA2013431384 | KCNA5 | c.1628G= (p.Ser543=)
| |
12 | g.5045775G>T | CA383466894 | KCNA5 | c.1628G>T (p.Ser543Ile)
| |
12 | g.5045776C>A | CA383466895 | KCNA5 | c.1629C>A (p.Ser543Arg)
| |
12 | g.5045776C>G | CA383466896 | KCNA5 | c.1629C>G (p.Ser543Arg)
| |
12 | g.5045776C>T | CA478095788 | KCNA5 | c.1629C>T (p.Ser543=)
| |
12 | g.5045777C>A | CA383466897 | KCNA5 | c.1630C>A (p.Gln544Lys)
| |
12 | g.5045777C>G | CA383466898 | KCNA5 | c.1630C>G (p.Gln544Glu)
| |
12 | g.5045777C>T | CA383466899 | KCNA5 | c.1630C>T (p.Gln544Ter)
| |
12 | g.5045778A= | CA2013431385 | KCNA5 | c.1631A= (p.Gln544=)
| |
12 | g.5045778A>C | CA383466900 | KCNA5 | c.1631A>C (p.Gln544Pro)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045778A>G | CA383466901 | KCNA5 | c.1631A>G (p.Gln544Arg)
| gnomAD v4 COSMIC |
12 | g.5045778A>T | CA383466902 | KCNA5 | c.1631A>T (p.Gln544Leu)
| |
12 | g.5045779G>A | CA478095789 | KCNA5 | c.1632G>A (p.Gln544=)
| gnomAD v4 |
12 | g.5045779G>C | CA383466903 | KCNA5 | c.1632G>C (p.Gln544His)
| |
12 | g.5045779G>T | CA383466904 | KCNA5 | c.1632G>T (p.Gln544His)
| |
12 | g.5045780G>A | CA383466905 | KCNA5 | c.1633G>A (p.Gly545Arg)
| |
12 | g.5045780G>C | CA383466906 | KCNA5 | c.1633G>C (p.Gly545Arg)
| gnomAD v4 |
12 | g.5045780G>T | CA383466907 | KCNA5 | c.1633G>T (p.Gly545Trp)
| |
12 | g.5045781G>A | CA6399910 | KCNA5 | c.1634G>A (p.Gly545Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045781G>C | CA383466909 | KCNA5 | c.1634G>C (p.Gly545Ala)
| |
12 | g.5045781G= | CA2013431386 | KCNA5 | c.1634G= (p.Gly545=)
| |
12 | g.5045781G>T | CA383466908 | KCNA5 | c.1634G>T (p.Gly545Val)
| |
12 | g.5045782G>A | CA478095790 | KCNA5 | c.1635G>A (p.Gly545=)
| |
12 | g.5045782G>C | CA231869198 | KCNA5 | c.1635G>C (p.Gly545=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045782G= | CA2013431387 | KCNA5 | c.1635G= (p.Gly545=)
| |
12 | g.5045782G>T | CA478095791 | KCNA5 | c.1635G>T (p.Gly545=)
| |
12 | g.5045783C>A | CA383466911 | KCNA5 | c.1636C>A (p.Pro546Thr)
| dbSNP gnomAD v4 |
12 | g.5045783C= | CA2013431388 | KCNA5 | c.1636C= (p.Pro546=)
| |
12 | g.5045783C>G | CA383466910 | KCNA5 | c.1636C>G (p.Pro546Ala)
| gnomAD v4 |
12 | g.5045783C>T | CA6399911 | KCNA5 | c.1636C>T (p.Pro546Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045784C>A | CA383466912 | KCNA5 | c.1637C>A (p.Pro546Gln)
| dbSNP gnomAD v4 |
12 | g.5045784C= | CA2013431389 | KCNA5 | c.1637C= (p.Pro546=)
| |
12 | g.5045784C>G | CA383466913 | KCNA5 | c.1637C>G (p.Pro546Arg)
| |
12 | g.5045784C>T | CA231869210 | KCNA5 | c.1637C>T (p.Pro546Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045785G>A | CA231869219 | KCNA5 | c.1638G>A (p.Pro546=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045785G>C | CA478095792 | KCNA5 | c.1638G>C (p.Pro546=)
| |
12 | g.5045785G= | CA2013431390 | KCNA5 | c.1638G= (p.Pro546=)
| |
12 | g.5045785G>T | CA478095793 | KCNA5 | c.1638G>T (p.Pro546=)
| |
12 | g.5045786G>A | CA383466914 | KCNA5 | c.1639G>A (p.Gly547Arg)
| gnomAD v4 |
12 | g.5045786G>C | CA383466915 | KCNA5 | c.1639G>C (p.Gly547Arg)
| |
12 | g.5045786G>T | CA383466916 | KCNA5 | c.1639G>T (p.Gly547Trp)
| |
12 | g.5045787G>A | CA383466917 | KCNA5 | c.1640G>A (p.Gly547Glu)
| dbSNP gnomAD v4 |
12 | g.5045787G>C | CA383466918 | KCNA5 | c.1640G>C (p.Gly547Ala)
| |
12 | g.5045787G= | CA2013431391 | KCNA5 | c.1640G= (p.Gly547=)
| |
12 | g.5045787G>T | CA383466919 | KCNA5 | c.1640G>T (p.Gly547Val)
| |
12 | g.5045788G>A | CA478095795 | KCNA5 | c.1641G>A (p.Gly547=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045788G>C | CA478095796 | KCNA5 | c.1641G>C (p.Gly547=)
| |
12 | g.5045788G= | CA2013431392 | KCNA5 | c.1641G= (p.Gly547=)
| |
12 | g.5045788G>T | CA478095797 | KCNA5 | c.1641G>T (p.Gly547=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045789C>A | CA383466920 | KCNA5 | c.1642C>A (p.Leu548Met)
| |
12 | g.5045789C>G | CA383466921 | KCNA5 | c.1642C>G (p.Leu548Val)
| gnomAD v4 |
12 | g.5045789C>T | CA478095799 | KCNA5 | c.1642C>T (p.Leu548=)
| |
12 | g.5045790T>A | CA383466922 | KCNA5 | c.1643T>A (p.Leu548Gln)
| |
12 | g.5045790T>C | CA6399912 | KCNA5 | c.1643T>C (p.Leu548Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045790T>G | CA383466923 | KCNA5 | c.1643T>G (p.Leu548Arg)
| gnomAD v4 |
12 | g.5045790T= | CA2013431393 | KCNA5 | c.1643T= (p.Leu548=)
| |
12 | g.5045791G>A | CA231869235 | KCNA5 | c.1644G>A (p.Leu548=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045791G>C | CA478095800 | KCNA5 | c.1644G>C (p.Leu548=)
| |
12 | g.5045791G= | CA2013431394 | KCNA5 | c.1644G= (p.Leu548=)
| |
12 | g.5045791G>T | CA478095802 | KCNA5 | c.1644G>T (p.Leu548=)
| |
12 | g.5045792G>A | CA383466924 | KCNA5 | c.1645G>A (p.Asp549Asn)
| dbSNP COSMIC |
12 | g.5045792G>C | CA383466925 | KCNA5 | c.1645G>C (p.Asp549His)
| |
12 | g.5045792G= | CA2013431395 | KCNA5 | c.1645G= (p.Asp549=)
| |
12 | g.5045792G>T | CA383466926 | KCNA5 | c.1645G>T (p.Asp549Tyr)
| |
12 | g.5045793A>C | CA383466927 | KCNA5 | c.1646A>C (p.Asp549Ala)
| |
12 | g.5045793A>G | CA383466928 | KCNA5 | c.1646A>G (p.Asp549Gly)
| |
12 | g.5045793A>T | CA383466929 | KCNA5 | c.1646A>T (p.Asp549Val)
| |
12 | g.5045794C>A | CA383466930 | KCNA5 | c.1647C>A (p.Asp549Glu)
| |
12 | g.5045794C>G | CA383466931 | KCNA5 | c.1647C>G (p.Asp549Glu)
| gnomAD v4 |
12 | g.5045794C>T | CA478095805 | KCNA5 | c.1647C>T (p.Asp549=)
| gnomAD v4 |
12 | g.5045795A= | CA2013431396 | KCNA5 | c.1648A= (p.Arg550=)
| |
12 | g.5045795A>C | CA478095807 | KCNA5 | c.1648A>C (p.Arg550=)
| |
12 | g.5045795A>G | CA231869237 | KCNA5 | c.1648A>G (p.Arg550Gly)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045795A>T | CA383466932 | KCNA5 | c.1648A>T (p.Arg550Ter)
| |
12 | g.5045796G>A | CA383466935 | KCNA5 | c.1649G>A (p.Arg550Lys)
| gnomAD v4 |
12 | g.5045796G>C | CA383466934 | KCNA5 | c.1649G>C (p.Arg550Thr)
| COSMIC |
12 | g.5045796G>T | CA383466933 | KCNA5 | c.1649G>T (p.Arg550Ile)
| |
12 | g.5045797A= | CA2013431397 | KCNA5 | c.1650A= (p.Arg550=)
| |
12 | g.5045797A>C | CA383466936 | KCNA5 | c.1650A>C (p.Arg550Ser)
| ClinVar dbSNP |
12 | g.5045797A>G | CA6399913 | KCNA5 | c.1650A>G (p.Arg550=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045797A>T | CA383466937 | KCNA5 | c.1650A>T (p.Arg550Ser)
| |
12 | g.5045798G>A | CA231869249 | KCNA5 | c.1651G>A (p.Gly551Arg)
| dbSNP |
12 | g.5045798G>C | CA383466938 | KCNA5 | c.1651G>C (p.Gly551Arg)
| |
12 | g.5045798G= | CA2013431398 | KCNA5 | c.1651G= (p.Gly551=)
| |
12 | g.5045798G>T | CA383466939 | KCNA5 | c.1651G>T (p.Gly551Ter)
| gnomAD v4 |
12 | g.5045799G>A | CA383466940 | KCNA5 | c.1652G>A (p.Gly551Glu)
| gnomAD v4 |
12 | g.5045799G>C | CA383466941 | KCNA5 | c.1652G>C (p.Gly551Ala)
| |
12 | g.5045799G>T | CA383466942 | KCNA5 | c.1652G>T (p.Gly551Val)
| |
12 | g.5045800A>C | CA478095809 | KCNA5 | c.1653A>C (p.Gly551=)
| gnomAD v4 |
12 | g.5045800A>G | CA478095810 | KCNA5 | c.1653A>G (p.Gly551=)
| |
12 | g.5045800A>T | CA478095811 | KCNA5 | c.1653A>T (p.Gly551=)
| |
12 | g.5045801G>A | CA383466943 | KCNA5 | c.1654G>A (p.Val552Ile)
| gnomAD v4 |
12 | g.5045801G>C | CA383466944 | KCNA5 | c.1654G>C (p.Val552Leu)
| gnomAD v4 |
12 | g.5045801G>T | CA383466945 | KCNA5 | c.1654G>T (p.Val552Phe)
| |
12 | g.5045802T>A | CA383466948 | KCNA5 | c.1655T>A (p.Val552Asp)
| gnomAD v4 |
12 | g.5045802T>C | CA383466946 | KCNA5 | c.1655T>C (p.Val552Ala)
| gnomAD v4 |
12 | g.5045802T>G | CA383466947 | KCNA5 | c.1655T>G (p.Val552Gly)
| |
12 | g.5045803C>A | CA478095813 | KCNA5 | c.1656C>A (p.Val552=)
| |
12 | g.5045803C= | CA2013431399 | KCNA5 | c.1656C= (p.Val552=)
| |
12 | g.5045803C>G | CA478095815 | KCNA5 | c.1656C>G (p.Val552=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045803C>T | CA478095817 | KCNA5 | c.1656C>T (p.Val552=)
| COSMIC |
12 | g.5045804C>A | CA383466949 | KCNA5 | c.1657C>A (p.Gln553Lys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045804C= | CA2013431400 | KCNA5 | c.1657C= (p.Gln553=)
| |
12 | g.5045804C>G | CA383466950 | KCNA5 | c.1657C>G (p.Gln553Glu)
| |
12 | g.5045804C>T | CA383466951 | KCNA5 | c.1657C>T (p.Gln553Ter)
| |
12 | g.5045805A= | CA2013431401 | KCNA5 | c.1658A= (p.Gln553=)
| |
12 | g.5045805A>C | CA383466952 | KCNA5 | c.1658A>C (p.Gln553Pro)
| gnomAD v4 |
12 | g.5045805A>G | CA383466953 | KCNA5 | c.1658A>G (p.Gln553Arg)
| gnomAD v4 |
12 | g.5045805A>T | CA383466954 | KCNA5 | c.1658A>T (p.Gln553Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045806G>A | CA478095819 | KCNA5 | c.1659G>A (p.Gln553=)
| gnomAD v4 |
12 | g.5045806G>C | CA383466955 | KCNA5 | c.1659G>C (p.Gln553His)
| |
12 | g.5045806G>T | CA383466956 | KCNA5 | c.1659G>T (p.Gln553His)
| COSMIC |
12 | g.5045807C>A | CA6399915 | KCNA5 | c.1660C>A (p.Arg554=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045807C= | CA2013431402 | KCNA5 | c.1660C= (p.Arg554=)
| |
12 | g.5045807C>G | CA383466957 | KCNA5 | c.1660C>G (p.Arg554Gly)
| |
12 | g.5045807C>T | CA6399914 | KCNA5 | c.1660C>T (p.Arg554Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045808G>A | CA6399916 | KCNA5 | c.1661G>A (p.Arg554Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045808G>C | CA383466959 | KCNA5 | c.1661G>C (p.Arg554Pro)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045808G= | CA2013431403 | KCNA5 | c.1661G= (p.Arg554=)
| |
12 | g.5045808G>T | CA383466958 | KCNA5 | c.1661G>T (p.Arg554Leu)
| |
12 | g.5045809G>A | CA478095825 | KCNA5 | c.1662G>A (p.Arg554=)
| COSMIC |
12 | g.5045809G>C | CA478095826 | KCNA5 | c.1662G>C (p.Arg554=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045809G>T | CA478095827 | KCNA5 | c.1662G>T (p.Arg554=)
| |
12 | g.5045810A>C | CA383466960 | KCNA5 | c.1663A>C (p.Lys555Gln)
| |
12 | g.5045810A>G | CA383466962 | KCNA5 | c.1663A>G (p.Lys555Glu)
| |
12 | g.5045810A>T | CA383466961 | KCNA5 | c.1663A>T (p.Lys555Ter)
| COSMIC |
12 | g.5045811A>C | CA383466963 | KCNA5 | c.1664A>C (p.Lys555Thr)
| |
12 | g.5045811A>G | CA383466965 | KCNA5 | c.1664A>G (p.Lys555Arg)
| |
12 | g.5045811A>T | CA383466964 | KCNA5 | c.1664A>T (p.Lys555Met)
| |
12 | g.5045812G>A | CA478095829 | KCNA5 | c.1665G>A (p.Lys555=)
| gnomAD v4 |
12 | g.5045812G>C | CA383466966 | KCNA5 | c.1665G>C (p.Lys555Asn)
| |
12 | g.5045812G>T | CA383466967 | KCNA5 | c.1665G>T (p.Lys555Asn)
| |
12 | g.5045813G>A | CA383466968 | KCNA5 | c.1666G>A (p.Val556Ile)
| |
12 | g.5045813G>C | CA383466969 | KCNA5 | c.1666G>C (p.Val556Leu)
| |
12 | g.5045813G>T | CA383466970 | KCNA5 | c.1666G>T (p.Val556Phe)
| ClinVar |
12 | g.5045814T>A | CA383466971 | KCNA5 | c.1667T>A (p.Val556Asp)
| |
12 | g.5045814T>C | CA383466972 | KCNA5 | c.1667T>C (p.Val556Ala)
| |
12 | g.5045814T>G | CA383466973 | KCNA5 | c.1667T>G (p.Val556Gly)
| dbSNP |
12 | g.5045814T= | CA2013431404 | KCNA5 | c.1667T= (p.Val556=)
| |
12 | g.5045814dup | CA2575052199 | KCNA5 | c.1667dup (p.Ser557GlnfsTer?)
| ClinVar gnomAD v4 |
12 | g.5045815C>A | CA478095832 | KCNA5 | c.1668C>A (p.Val556=)
| |
12 | g.5045815C>G | CA478095833 | KCNA5 | c.1668C>G (p.Val556=)
| |
12 | g.5045815C>T | CA478095835 | KCNA5 | c.1668C>T (p.Val556=)
| |
12 | g.5045816A= | CA2013431405 | KCNA5 | c.1669A= (p.Ser557=)
| |
12 | g.5045816A>C | CA383466974 | KCNA5 | c.1669A>C (p.Ser557Arg)
| |
12 | g.5045816A>G | CA383466975 | KCNA5 | c.1669A>G (p.Ser557Gly)
| dbSNP gnomAD v4 |
12 | g.5045816A>T | CA383466976 | KCNA5 | c.1669A>T (p.Ser557Cys)
| |
12 | g.5045817G>A | CA6399918 | KCNA5 | c.1670G>A (p.Ser557Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045817G>C | CA6399917 | KCNA5 | c.1670G>C (p.Ser557Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045817G= | CA2013431406 | KCNA5 | c.1670G= (p.Ser557=)
| |
12 | g.5045817G>T | CA383466977 | KCNA5 | c.1670G>T (p.Ser557Ile)
| gnomAD v4 |
12 | g.5045818C>A | CA6399919 | KCNA5 | c.1671C>A (p.Ser557Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045818C= | CA2013431407 | KCNA5 | c.1671C= (p.Ser557=)
| |
12 | g.5045818C>G | CA383466978 | KCNA5 | c.1671C>G (p.Ser557Arg)
| |
12 | g.5045818C>T | CA478095837 | KCNA5 | c.1671C>T (p.Ser557=)
| gnomAD v4 COSMIC |
12 | g.5045819G>A | CA6399920 | KCNA5 | c.1672G>A (p.Gly558Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045819G>C | CA383466979 | KCNA5 | c.1672G>C (p.Gly558Arg)
| |
12 | g.5045819G= | CA2013431408 | KCNA5 | c.1672G= (p.Gly558=)
| |
12 | g.5045819G>T | CA383466980 | KCNA5 | c.1672G>T (p.Gly558Trp)
| |
12 | g.5045820G>A | CA383466981 | KCNA5 | c.1673G>A (p.Gly558Glu)
| |
12 | g.5045820G>C | CA383466982 | KCNA5 | c.1673G>C (p.Gly558Ala)
| |
12 | g.5045820G>T | CA383466983 | KCNA5 | c.1673G>T (p.Gly558Val)
| |
12 | g.5045821G>A | CA478095841 | KCNA5 | c.1674G>A (p.Gly558=)
| |
12 | g.5045821G>C | CA478095840 | KCNA5 | c.1674G>C (p.Gly558=)
| gnomAD v4 |
12 | g.5045821G>T | CA478095839 | KCNA5 | c.1674G>T (p.Gly558=)
| |
12 | g.5045822A>C | CA383466984 | KCNA5 | c.1675A>C (p.Ser559Arg)
| |
12 | g.5045822A>G | CA383466985 | KCNA5 | c.1675A>G (p.Ser559Gly)
| |
12 | g.5045822A>T | CA383466986 | KCNA5 | c.1675A>T (p.Ser559Cys)
| |
12 | g.5045823G>A | CA383466989 | KCNA5 | c.1676G>A (p.Ser559Asn)
| gnomAD v4 |
12 | g.5045823G>C | CA383466988 | KCNA5 | c.1676G>C (p.Ser559Thr)
| |
12 | g.5045823G>T | CA383466987 | KCNA5 | c.1676G>T (p.Ser559Ile)
| |
12 | g.5045824C>A | CA383466990 | KCNA5 | c.1677C>A (p.Ser559Arg)
| |
12 | g.5045824C= | CA2013431409 | KCNA5 | c.1677C= (p.Ser559=)
| |
12 | g.5045824C>G | CA383466991 | KCNA5 | c.1677C>G (p.Ser559Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045824C>T | CA231869273 | KCNA5 | c.1677C>T (p.Ser559=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045825A>C | CA478095845 | KCNA5 | c.1678A>C (p.Arg560=)
| |
12 | g.5045825A>G | CA383466992 | KCNA5 | c.1678A>G (p.Arg560Gly)
| |
12 | g.5045825A>T | CA383466993 | KCNA5 | c.1678A>T (p.Arg560Trp)
| |
12 | g.5045826G>A | CA383466994 | KCNA5 | c.1679G>A (p.Arg560Lys)
| gnomAD v4 |
12 | g.5045826G>C | CA383466995 | KCNA5 | c.1679G>C (p.Arg560Thr)
| |
12 | g.5045826G>T | CA383466996 | KCNA5 | c.1679G>T (p.Arg560Met)
| gnomAD v4 |
12 | g.5045827G>A | CA6399921 | KCNA5 | c.1680G>A (p.Arg560=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045827G>C | CA383466997 | KCNA5 | c.1680G>C (p.Arg560Ser)
| |
12 | g.5045827G= | CA2013431410 | KCNA5 | c.1680G= (p.Arg560=)
| |
12 | g.5045827G>T | CA383466998 | KCNA5 | c.1680G>T (p.Arg560Ser)
| |
12 | g.5045828G>A | CA383466999 | KCNA5 | c.1681G>A (p.Gly561Arg)
| gnomAD v4 |
12 | g.5045828G>C | CA383467000 | KCNA5 | c.1681G>C (p.Gly561Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045828G= | CA2013431411 | KCNA5 | c.1681G= (p.Gly561=)
| |
12 | g.5045828G>T | CA383467001 | KCNA5 | c.1681G>T (p.Gly561Ter)
| |
12 | g.5045829G>A | CA383467004 | KCNA5 | c.1682G>A (p.Gly561Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045829G>C | CA383467002 | KCNA5 | c.1682G>C (p.Gly561Ala)
| |
12 | g.5045829G= | CA2013431412 | KCNA5 | c.1682G= (p.Gly561=)
| |
12 | g.5045829G>T | CA383467003 | KCNA5 | c.1682G>T (p.Gly561Val)
| gnomAD v4 |
12 | g.5045830A= | CA2013431413 | KCNA5 | c.1683A= (p.Gly561=)
| |
12 | g.5045830A>C | CA478095849 | KCNA5 | c.1683A>C (p.Gly561=)
| |
12 | g.5045830A>G | CA478095847 | KCNA5 | c.1683A>G (p.Gly561=)
| gnomAD v4 |
12 | g.5045830A>T | CA478095848 | KCNA5 | c.1683A>T (p.Gly561=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045831T>A | CA6399922 | KCNA5 | c.1684T>A (p.Ser562Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045831T>C | CA383467005 | KCNA5 | c.1684T>C (p.Ser562Pro)
| |
12 | g.5045831T>G | CA383467006 | KCNA5 | c.1684T>G (p.Ser562Ala)
| |
12 | g.5045831T= | CA2013431414 | KCNA5 | c.1684T= (p.Ser562=)
| |
12 | g.5045832C>A | CA383467007 | KCNA5 | c.1685C>A (p.Ser562Tyr)
| |
12 | g.5045832C>G | CA383467008 | KCNA5 | c.1685C>G (p.Ser562Cys)
| |
12 | g.5045832C>T | CA383467009 | KCNA5 | c.1685C>T (p.Ser562Phe)
| gnomAD v4 COSMIC |
12 | g.5045833del | CA2695215942 | KCNA5 | c.1686del (p.Phe563SerfsTer21)
| |
12 | g.5045833C>A | CA478095850 | KCNA5 | c.1686C>A (p.Ser562=)
| |
12 | g.5045833C= | CA2013431415 | KCNA5 | c.1686C= (p.Ser562=)
| |
12 | g.5045833C>G | CA478095851 | KCNA5 | c.1686C>G (p.Ser562=)
| |
12 | g.5045833C>T | CA478095852 | KCNA5 | c.1686C>T (p.Ser562=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045834T>A | CA383467010 | KCNA5 | c.1687T>A (p.Phe563Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045834T>C | CA383467011 | KCNA5 | c.1687T>C (p.Phe563Leu)
| |
12 | g.5045834T>G | CA383467012 | KCNA5 | c.1687T>G (p.Phe563Val)
| |
12 | g.5045834T= | CA2013431416 | KCNA5 | c.1687T= (p.Phe563=)
| |
12 | g.5045835T>A | CA383467013 | KCNA5 | c.1688T>A (p.Phe563Tyr)
| |
12 | g.5045835T>C | CA383467014 | KCNA5 | c.1688T>C (p.Phe563Ser)
| |
12 | g.5045835T>G | CA383467015 | KCNA5 | c.1688T>G (p.Phe563Cys)
| |
12 | g.5045836C>A | CA383467017 | KCNA5 | c.1689C>A (p.Phe563Leu)
| |
12 | g.5045836C>G | CA383467016 | KCNA5 | c.1689C>G (p.Phe563Leu)
| |
12 | g.5045836C>T | CA478095853 | KCNA5 | c.1689C>T (p.Phe563=)
| |
12 | g.5045837T>A | CA383467018 | KCNA5 | c.1690T>A (p.Cys564Ser)
| |
12 | g.5045837T>C | CA383467019 | KCNA5 | c.1690T>C (p.Cys564Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045837T>G | CA383467020 | KCNA5 | c.1690T>G (p.Cys564Gly)
| |
12 | g.5045837T= | CA2013431417 | KCNA5 | c.1690T= (p.Cys564=)
| |
12 | g.5045838G>A | CA231869276 | KCNA5 | c.1691G>A (p.Cys564Tyr)
| dbSNP |
12 | g.5045838G>C | CA383467021 | KCNA5 | c.1691G>C (p.Cys564Ser)
| |
12 | g.5045838G= | CA2013431418 | KCNA5 | c.1691G= (p.Cys564=)
| |
12 | g.5045838G>T | CA383467022 | KCNA5 | c.1691G>T (p.Cys564Phe)
| |
12 | g.5045839C>A | CA383467023 | KCNA5 | c.1692C>A (p.Cys564Ter)
| |
12 | g.5045839C>G | CA383467024 | KCNA5 | c.1692C>G (p.Cys564Trp)
| |
12 | g.5045839C>T | CA478095855 | KCNA5 | c.1692C>T (p.Cys564=)
| gnomAD v4 |