12 | g.5044765G>A | CA6399673 | KCNA5 | c.618G>A (p.Gly206=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044765G>C | CA478095131 | KCNA5 | c.618G>C (p.Gly206=)
| |
12 | g.5044765G= | CA2013430863 | KCNA5 | c.618G= (p.Gly206=)
| |
12 | g.5044765G>T | CA478095132 | KCNA5 | c.618G>T (p.Gly206=)
| |
12 | g.5044766G>A | CA6399674 | KCNA5 | c.619G>A (p.Asp207Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044766G>C | CA383464801 | KCNA5 | c.619G>C (p.Asp207His)
| dbSNP |
12 | g.5044766G= | CA2013430864 | KCNA5 | c.619G= (p.Asp207=)
| |
12 | g.5044766G>T | CA383464802 | KCNA5 | c.619G>T (p.Asp207Tyr)
| gnomAD v4 |
12 | g.5044767A>C | CA383464804 | KCNA5 | c.620A>C (p.Asp207Ala)
| |
12 | g.5044767A>G | CA383464805 | KCNA5 | c.620A>G (p.Asp207Gly)
| |
12 | g.5044767A>T | CA383464803 | KCNA5 | c.620A>T (p.Asp207Val)
| |
12 | g.5044768C>A | CA383464806 | KCNA5 | c.621C>A (p.Asp207Glu)
| |
12 | g.5044768C= | CA2013430865 | KCNA5 | c.621C= (p.Asp207=)
| |
12 | g.5044768C>G | CA6399675 | KCNA5 | c.621C>G (p.Asp207Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044768C>T | CA478095135 | KCNA5 | c.621C>T (p.Asp207=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044769G>A | CA383464807 | KCNA5 | c.622G>A (p.Glu208Lys)
| ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.5044769G>C | CA383464808 | KCNA5 | c.622G>C (p.Glu208Gln)
| gnomAD v4 |
12 | g.5044769G= | CA2013430866 | KCNA5 | c.622G= (p.Glu208=)
| |
12 | g.5044769G>T | CA6399676 | KCNA5 | c.622G>T (p.Glu208Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044770A>C | CA383464811 | KCNA5 | c.623A>C (p.Glu208Ala)
| |
12 | g.5044770A>G | CA383464810 | KCNA5 | c.623A>G (p.Glu208Gly)
| |
12 | g.5044770A>T | CA383464809 | KCNA5 | c.623A>T (p.Glu208Val)
| |
12 | g.5044771G>A | CA6399677 | KCNA5 | c.624G>A (p.Glu208=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044771G>C | CA383464812 | KCNA5 | c.624G>C (p.Glu208Asp)
| gnomAD v4 |
12 | g.5044771G= | CA2013430867 | KCNA5 | c.624G= (p.Glu208=)
| |
12 | g.5044771G>T | CA383464813 | KCNA5 | c.624G>T (p.Glu208Asp)
| |
12 | g.5044772G>A | CA383464814 | KCNA5 | c.625G>A (p.Ala209Thr)
| |
12 | g.5044772G>C | CA383464815 | KCNA5 | c.625G>C (p.Ala209Pro)
| gnomAD v4 |
12 | g.5044772G>T | CA383464816 | KCNA5 | c.625G>T (p.Ala209Ser)
| |
12 | g.5044773C>A | CA383464817 | KCNA5 | c.626C>A (p.Ala209Asp)
| |
12 | g.5044773C= | CA2013430868 | KCNA5 | c.626C= (p.Ala209=)
| |
12 | g.5044773C>G | CA383464818 | KCNA5 | c.626C>G (p.Ala209Gly)
| dbSNP |
12 | g.5044773C>T | CA6399678 | KCNA5 | c.626C>T (p.Ala209Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044774C>A | CA478095142 | KCNA5 | c.627C>A (p.Ala209=)
| |
12 | g.5044774C>G | CA478095141 | KCNA5 | c.627C>G (p.Ala209=)
| |
12 | g.5044774C>T | CA478095139 | KCNA5 | c.627C>T (p.Ala209=)
| |
12 | g.5044775A= | CA2013430869 | KCNA5 | c.628A= (p.Met210=)
| |
12 | g.5044775A>C | CA231867577 | KCNA5 | c.628A>C (p.Met210Leu)
| dbSNP |
12 | g.5044775A>G | CA383464819 | KCNA5 | c.628A>G (p.Met210Val)
| |
12 | g.5044775A>T | CA383464820 | KCNA5 | c.628A>T (p.Met210Leu)
| |
12 | g.5044776T>A | CA383464821 | KCNA5 | c.629T>A (p.Met210Lys)
| |
12 | g.5044776T>C | CA383464822 | KCNA5 | c.629T>C (p.Met210Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044776T>G | CA383464823 | KCNA5 | c.629T>G (p.Met210Arg)
| |
12 | g.5044776T= | CA2013430871 | KCNA5 | c.629T= (p.Met210=)
| |
12 | g.5044776_5044777delinsTG | CA2013430870 | KCNA5 | c.629_630delinsTG (p.Met210=)
| |
12 | g.5044777G>A | CA383464824 | KCNA5 | c.630G>A (p.Met210Ile)
| COSMIC |
12 | g.5044777G>C | CA383464825 | KCNA5 | c.630G>C (p.Met210Ile)
| |
12 | g.5044777G>T | CA383464826 | KCNA5 | c.630G>T (p.Met210Ile)
| gnomAD v4 |
12 | g.5044778del | CA919011934 | KCNA5 | c.631del (p.Glu211SerfsTer?)
| dbSNP gnomAD v4 |
12 | g.5044778G>A | CA383464827 | KCNA5 | c.631G>A (p.Glu211Lys)
| ClinVar COSMIC |
12 | g.5044778G>C | CA383464828 | KCNA5 | c.631G>C (p.Glu211Gln)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044778G= | CA2013430872 | KCNA5 | c.631G= (p.Glu211=)
| |
12 | g.5044778G>T | CA383464829 | KCNA5 | c.631G>T (p.Glu211Ter)
| |
12 | g.5044779A>C | CA383464831 | KCNA5 | c.632A>C (p.Glu211Ala)
| |
12 | g.5044779A>G | CA383464832 | KCNA5 | c.632A>G (p.Glu211Gly)
| |
12 | g.5044779A>T | CA383464830 | KCNA5 | c.632A>T (p.Glu211Val)
| |
12 | g.5044780G>A | CA478095145 | KCNA5 | c.633G>A (p.Glu211=)
| |
12 | g.5044780G>C | CA278491 | KCNA5 | c.633G>C (p.Glu211Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044780G= | CA2013430873 | KCNA5 | c.633G= (p.Glu211=)
| |
12 | g.5044780G>T | CA383464833 | KCNA5 | c.633G>T (p.Glu211Asp)
| |
12 | g.5044781C>A | CA6399679 | KCNA5 | c.634C>A (p.Arg212Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044781C= | CA2013430874 | KCNA5 | c.634C= (p.Arg212=)
| |
12 | g.5044781C>G | CA383464834 | KCNA5 | c.634C>G (p.Arg212Gly)
| |
12 | g.5044781C>T | CA236715 | KCNA5 | c.634C>T (p.Arg212Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044781dup | CA689645217 | KCNA5 | c.634dup (p.Arg212ProfsTer6)
| dbSNP |
12 | g.5044782G>A | CA383464835 | KCNA5 | c.635G>A (p.Arg212His)
| ClinVar COSMIC |
12 | g.5044782G>C | CA383464836 | KCNA5 | c.635G>C (p.Arg212Pro)
| |
12 | g.5044782G>T | CA383464837 | KCNA5 | c.635G>T (p.Arg212Leu)
| |
12 | g.5044783C>A | CA478095147 | KCNA5 | c.636C>A (p.Arg212=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044783C= | CA2013430875 | KCNA5 | c.636C= (p.Arg212=)
| |
12 | g.5044783C>G | CA6399680 | KCNA5 | c.636C>G (p.Arg212=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044783C>T | CA478095146 | KCNA5 | c.636C>T (p.Arg212=)
| |
12 | g.5044784T>A | CA383464840 | KCNA5 | c.637T>A (p.Phe213Ile)
| |
12 | g.5044784T>C | CA383464838 | KCNA5 | c.637T>C (p.Phe213Leu)
| |
12 | g.5044784T>G | CA383464839 | KCNA5 | c.637T>G (p.Phe213Val)
| |
12 | g.5044785T>A | CA383464841 | KCNA5 | c.638T>A (p.Phe213Tyr)
| COSMIC |
12 | g.5044785T>C | CA6399681 | KCNA5 | c.638T>C (p.Phe213Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044785T>G | CA383464842 | KCNA5 | c.638T>G (p.Phe213Cys)
| |
12 | g.5044785T= | CA2013430876 | KCNA5 | c.638T= (p.Phe213=)
| |
12 | g.5044786C>A | CA383464843 | KCNA5 | c.639C>A (p.Phe213Leu)
| |
12 | g.5044786C= | CA2013430877 | KCNA5 | c.639C= (p.Phe213=)
| |
12 | g.5044786C>G | CA6399682 | KCNA5 | c.639C>G (p.Phe213Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044786C>T | CA478095151 | KCNA5 | c.639C>T (p.Phe213=)
| gnomAD v4 |
12 | g.5044787C>A | CA383464844 | KCNA5 | c.640C>A (p.Arg214Ser)
| |
12 | g.5044787C= | CA2013430878 | KCNA5 | c.640C= (p.Arg214=)
| |
12 | g.5044787C>G | CA231867612 | KCNA5 | c.640C>G (p.Arg214Gly)
| dbSNP |
12 | g.5044787C>T | CA6399683 | KCNA5 | c.640C>T (p.Arg214Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044788G>A | CA383464845 | KCNA5 | c.641G>A (p.Arg214His)
| ClinVar dbSNP COSMIC |
12 | g.5044788G>C | CA383464846 | KCNA5 | c.641G>C (p.Arg214Pro)
| |
12 | g.5044788G= | CA2013430879 | KCNA5 | c.641G= (p.Arg214=)
| |
12 | g.5044788G>T | CA383464847 | KCNA5 | c.641G>T (p.Arg214Leu)
| dbSNP |
12 | g.5044789C>A | CA6399684 | KCNA5 | c.642C>A (p.Arg214=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044789C= | CA2013430880 | KCNA5 | c.642C= (p.Arg214=)
| |
12 | g.5044789C>G | CA478095155 | KCNA5 | c.642C>G (p.Arg214=)
| |
12 | g.5044789C>T | CA478095156 | KCNA5 | c.642C>T (p.Arg214=)
| |
12 | g.5044790G>A | CA383464848 | KCNA5 | c.643G>A (p.Glu215Lys)
| gnomAD v4 COSMIC |
12 | g.5044790G>C | CA383464849 | KCNA5 | c.643G>C (p.Glu215Gln)
| |
12 | g.5044790G>T | CA383464850 | KCNA5 | c.643G>T (p.Glu215Ter)
| gnomAD v4 |
12 | g.5044791A>C | CA383464851 | KCNA5 | c.644A>C (p.Glu215Ala)
| |
12 | g.5044791A>G | CA383464852 | KCNA5 | c.644A>G (p.Glu215Gly)
| dbSNP gnomAD v4 |
12 | g.5044791A>T | CA383464853 | KCNA5 | c.644A>T (p.Glu215Val)
| |
12 | g.5044792G>A | CA6399685 | KCNA5 | c.645G>A (p.Glu215=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044792G>C | CA383464855 | KCNA5 | c.645G>C (p.Glu215Asp)
| |
12 | g.5044792G= | CA2013430881 | KCNA5 | c.645G= (p.Glu215=)
| |
12 | g.5044792G>T | CA383464854 | KCNA5 | c.645G>T (p.Glu215Asp)
| |
12 | g.5044793G>A | CA383464856 | KCNA5 | c.646G>A (p.Asp216Asn)
| |
12 | g.5044793G>C | CA6399686 | KCNA5 | c.646G>C (p.Asp216His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044793G= | CA2013430882 | KCNA5 | c.646G= (p.Asp216=)
| |
12 | g.5044793G>T | CA383464857 | KCNA5 | c.646G>T (p.Asp216Tyr)
| COSMIC |
12 | g.5044794A>C | CA383464858 | KCNA5 | c.647A>C (p.Asp216Ala)
| |
12 | g.5044794A>G | CA383464859 | KCNA5 | c.647A>G (p.Asp216Gly)
| gnomAD v4 COSMIC |
12 | g.5044794A>T | CA383464860 | KCNA5 | c.647A>T (p.Asp216Val)
| |
12 | g.5044795T>A | CA383464862 | KCNA5 | c.648T>A (p.Asp216Glu)
| |
12 | g.5044795T>C | CA478095159 | KCNA5 | c.648T>C (p.Asp216=)
| |
12 | g.5044795T>G | CA383464861 | KCNA5 | c.648T>G (p.Asp216Glu)
| |
12 | g.5044796G>A | CA383464863 | KCNA5 | c.649G>A (p.Glu217Lys)
| dbSNP gnomAD v4 |
12 | g.5044796G>C | CA383464864 | KCNA5 | c.649G>C (p.Glu217Gln)
| gnomAD v4 |
12 | g.5044796G= | CA2013430883 | KCNA5 | c.649G= (p.Glu217=)
| |
12 | g.5044796G>T | CA383464865 | KCNA5 | c.649G>T (p.Glu217Ter)
| |
12 | g.5044797A= | CA2013430884 | KCNA5 | c.650A= (p.Glu217=)
| |
12 | g.5044797A>C | CA383464866 | KCNA5 | c.650A>C (p.Glu217Ala)
| dbSNP |
12 | g.5044797A>G | CA383464867 | KCNA5 | c.650A>G (p.Glu217Gly)
| |
12 | g.5044797A>T | CA383464868 | KCNA5 | c.650A>T (p.Glu217Val)
| |
12 | g.5044798G>A | CA6399687 | KCNA5 | c.651G>A (p.Glu217=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044798G>C | CA383464870 | KCNA5 | c.651G>C (p.Glu217Asp)
| |
12 | g.5044798G= | CA2013430885 | KCNA5 | c.651G= (p.Glu217=)
| |
12 | g.5044798G>T | CA383464869 | KCNA5 | c.651G>T (p.Glu217Asp)
| |
12 | g.5044799G>A | CA383464871 | KCNA5 | c.652G>A (p.Gly218Ser)
| |
12 | g.5044799G>C | CA383464872 | KCNA5 | c.652G>C (p.Gly218Arg)
| |
12 | g.5044799G>T | CA383464873 | KCNA5 | c.652G>T (p.Gly218Cys)
| |
12 | g.5044800G>A | CA383464874 | KCNA5 | c.653G>A (p.Gly218Asp)
| |
12 | g.5044800G>C | CA383464875 | KCNA5 | c.653G>C (p.Gly218Ala)
| |
12 | g.5044800G= | CA2013430886 | KCNA5 | c.653G= (p.Gly218=)
| |
12 | g.5044800G>T | CA6399688 | KCNA5 | c.653G>T (p.Gly218Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044801C>A | CA478095162 | KCNA5 | c.654C>A (p.Gly218=)
| |
12 | g.5044801C>G | CA478095163 | KCNA5 | c.654C>G (p.Gly218=)
| |
12 | g.5044801C>T | CA478095161 | KCNA5 | c.654C>T (p.Gly218=)
| |
12 | g.5044802T>A | CA383464876 | KCNA5 | c.655T>A (p.Phe219Ile)
| |
12 | g.5044802T>C | CA383464877 | KCNA5 | c.655T>C (p.Phe219Leu)
| |
12 | g.5044802T>G | CA383464878 | KCNA5 | c.655T>G (p.Phe219Val)
| |
12 | g.5044803T>A | CA383464879 | KCNA5 | c.656T>A (p.Phe219Tyr)
| |
12 | g.5044803T>C | CA383464880 | KCNA5 | c.656T>C (p.Phe219Ser)
| |
12 | g.5044803T>G | CA383464881 | KCNA5 | c.656T>G (p.Phe219Cys)
| |
12 | g.5044804C>A | CA383464883 | KCNA5 | c.657C>A (p.Phe219Leu)
| |
12 | g.5044804C= | CA2013430887 | KCNA5 | c.657C= (p.Phe219=)
| |
12 | g.5044804C>G | CA383464882 | KCNA5 | c.657C>G (p.Phe219Leu)
| |
12 | g.5044804C>T | CA478095165 | KCNA5 | c.657C>T (p.Phe219=)
| dbSNP |
12 | g.5044805A= | CA2013430888 | KCNA5 | c.658A= (p.Ile220=)
| |
12 | g.5044805A>C | CA383464884 | KCNA5 | c.658A>C (p.Ile220Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044805A>G | CA383464886 | KCNA5 | c.658A>G (p.Ile220Val)
| |
12 | g.5044805A>T | CA383464885 | KCNA5 | c.658A>T (p.Ile220Phe)
| |
12 | g.5044806T>A | CA383464887 | KCNA5 | c.659T>A (p.Ile220Asn)
| |
12 | g.5044806T>C | CA383464888 | KCNA5 | c.659T>C (p.Ile220Thr)
| |
12 | g.5044806T>G | CA383464889 | KCNA5 | c.659T>G (p.Ile220Ser)
| |
12 | g.5044807T>A | CA478095168 | KCNA5 | c.660T>A (p.Ile220=)
| |
12 | g.5044807T>C | CA478095166 | KCNA5 | c.660T>C (p.Ile220=)
| dbSNP gnomAD v4 |
12 | g.5044807T>G | CA383464890 | KCNA5 | c.660T>G (p.Ile220Met)
| |
12 | g.5044807T= | CA2013430889 | KCNA5 | c.660T= (p.Ile220=)
| |
12 | g.5044808A>C | CA383464891 | KCNA5 | c.661A>C (p.Lys221Gln)
| |
12 | g.5044808A>G | CA383464892 | KCNA5 | c.661A>G (p.Lys221Glu)
| |
12 | g.5044808A>T | CA383464893 | KCNA5 | c.661A>T (p.Lys221Ter)
| |
12 | g.5044809A= | CA2013430890 | KCNA5 | c.662A= (p.Lys221=)
| |
12 | g.5044809A>C | CA383464894 | KCNA5 | c.662A>C (p.Lys221Thr)
| |
12 | g.5044809A>G | CA231867640 | KCNA5 | c.662A>G (p.Lys221Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044809A>T | CA383464895 | KCNA5 | c.662A>T (p.Lys221Ile)
| |
12 | g.5044813_5044815del | CA2617209903 | KCNA5 | c.666_668del (p.Glu223del)
| gnomAD v4 |
12 | g.5044810A>C | CA383464896 | KCNA5 | c.663A>C (p.Lys221Asn)
| |
12 | g.5044810A>G | CA478095169 | KCNA5 | c.663A>G (p.Lys221=)
| |
12 | g.5044810A>T | CA383464897 | KCNA5 | c.663A>T (p.Lys221Asn)
| |
12 | g.5044811G>A | CA383464900 | KCNA5 | c.664G>A (p.Glu222Lys)
| gnomAD v4 |
12 | g.5044811G>C | CA383464898 | KCNA5 | c.664G>C (p.Glu222Gln)
| |
12 | g.5044811G>T | CA383464899 | KCNA5 | c.664G>T (p.Glu222Ter)
| |
12 | g.5044812A>C | CA383464901 | KCNA5 | c.665A>C (p.Glu222Ala)
| |
12 | g.5044812A>G | CA383464902 | KCNA5 | c.665A>G (p.Glu222Gly)
| |
12 | g.5044812A>T | CA383464903 | KCNA5 | c.665A>T (p.Glu222Val)
| |
12 | g.5044813A>C | CA383464904 | KCNA5 | c.666A>C (p.Glu222Asp)
| gnomAD v4 |
12 | g.5044813A>G | CA478095172 | KCNA5 | c.666A>G (p.Glu222=)
| |
12 | g.5044813A>T | CA383464905 | KCNA5 | c.666A>T (p.Glu222Asp)
| |
12 | g.5044813_5044814delinsAG | CA2013430892 | KCNA5 | c.666_667delinsAG (p.Glu222=)
| |
12 | g.5044813_5044816delinsAGAG | CA2013430891 | KCNA5 | c.666_669delinsAGAG (p.Glu222=)
| |
12 | g.5044814del | CA2013430893 | KCNA5 | c.667del (p.Glu223ArgfsTer?)
| dbSNP gnomAD v4 |
12 | g.5044814G>A | CA6399690 | KCNA5 | c.667G>A (p.Glu223Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044814G>C | CA383464906 | KCNA5 | c.667G>C (p.Glu223Gln)
| gnomAD v4 |
12 | g.5044814G= | CA2013430894 | KCNA5 | c.667G= (p.Glu223=)
| |
12 | g.5044814G>T | CA383464907 | KCNA5 | c.667G>T (p.Glu223Ter)
| |
12 | g.5044817_5044819del | CA6399689 | KCNA5 | c.670_672del (p.Glu224del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044815A>C | CA383464908 | KCNA5 | c.668A>C (p.Glu223Ala)
| |
12 | g.5044815A>G | CA383464909 | KCNA5 | c.668A>G (p.Glu223Gly)
| |
12 | g.5044815A>T | CA383464910 | KCNA5 | c.668A>T (p.Glu223Val)
| COSMIC |
12 | g.5044815_5044816delinsAG | CA2013430895 | KCNA5 | c.668_669delinsAG (p.Glu223=)
| |
12 | g.5044816G>A | CA478095173 | KCNA5 | c.669G>A (p.Glu223=)
| |
12 | g.5044816G>C | CA383464912 | KCNA5 | c.669G>C (p.Glu223Asp)
| dbSNP |
12 | g.5044816G= | CA2013430896 | KCNA5 | c.669G= (p.Glu223=)
| |
12 | g.5044816G>T | CA383464911 | KCNA5 | c.669G>T (p.Glu223Asp)
| |
12 | g.5044817del | CA1139662474 | KCNA5 | c.670del (p.Glu224ArgfsTer?)
| ClinVar dbSNP |
12 | g.5044817G>A | CA383464913 | KCNA5 | c.670G>A (p.Glu224Lys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044817G>C | CA383464915 | KCNA5 | c.670G>C (p.Glu224Gln)
| |
12 | g.5044817G= | CA2013430897 | KCNA5 | c.670G= (p.Glu224=)
| |
12 | g.5044817G>T | CA383464914 | KCNA5 | c.670G>T (p.Glu224Ter)
| |
12 | g.5044818A>C | CA383464916 | KCNA5 | c.671A>C (p.Glu224Ala)
| |
12 | g.5044818A>G | CA383464917 | KCNA5 | c.671A>G (p.Glu224Gly)
| |
12 | g.5044818A>T | CA383464918 | KCNA5 | c.671A>T (p.Glu224Val)
| |
12 | g.5044819G>A | CA478095177 | KCNA5 | c.672G>A (p.Glu224=)
| gnomAD v4 |
12 | g.5044819G>C | CA383464919 | KCNA5 | c.672G>C (p.Glu224Asp)
| dbSNP |
12 | g.5044819G>T | CA383464920 | KCNA5 | c.672G>T (p.Glu224Asp)
| |
12 | g.5044820A>C | CA383464921 | KCNA5 | c.673A>C (p.Lys225Gln)
| |
12 | g.5044820A>G | CA383464922 | KCNA5 | c.673A>G (p.Lys225Glu)
| |
12 | g.5044820A>T | CA383464923 | KCNA5 | c.673A>T (p.Lys225Ter)
| gnomAD v4 |
12 | g.5044821A>C | CA383464924 | KCNA5 | c.674A>C (p.Lys225Thr)
| |
12 | g.5044821A>G | CA383464925 | KCNA5 | c.674A>G (p.Lys225Arg)
| gnomAD v4 |
12 | g.5044821A>T | CA383464926 | KCNA5 | c.674A>T (p.Lys225Met)
| |
12 | g.5044822G>A | CA6399691 | KCNA5 | c.675G>A (p.Lys225=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044822G>C | CA383464928 | KCNA5 | c.675G>C (p.Lys225Asn)
| |
12 | g.5044822G= | CA2013430898 | KCNA5 | c.675G= (p.Lys225=)
| |
12 | g.5044822G>T | CA383464927 | KCNA5 | c.675G>T (p.Lys225Asn)
| |
12 | g.5044823C>A | CA383464929 | KCNA5 | c.676C>A (p.Pro226Thr)
| |
12 | g.5044823C= | CA2013430899 | KCNA5 | c.676C= (p.Pro226=)
| |
12 | g.5044823C>G | CA383464930 | KCNA5 | c.676C>G (p.Pro226Ala)
| |
12 | g.5044823C>T | CA383464931 | KCNA5 | c.676C>T (p.Pro226Ser)
| gnomAD v4 |
12 | g.5044824C>A | CA383464932 | KCNA5 | c.677C>A (p.Pro226His)
| gnomAD v4 |
12 | g.5044824C>G | CA383464933 | KCNA5 | c.677C>G (p.Pro226Arg)
| |
12 | g.5044824C>T | CA383464934 | KCNA5 | c.677C>T (p.Pro226Leu)
| gnomAD v4 |
12 | g.5044824_5044827dup | CA603482588 | KCNA5 | c.677_680dup (p.Arg229AlafsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044825C>A | CA6399692 | KCNA5 | c.678C>A (p.Pro226=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044825C= | CA2013430900 | KCNA5 | c.678C= (p.Pro226=)
| |
12 | g.5044825C>G | CA478095180 | KCNA5 | c.678C>G (p.Pro226=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044825C>T | CA478095179 | KCNA5 | c.678C>T (p.Pro226=)
| gnomAD v4 |
12 | g.5044826C>A | CA383464935 | KCNA5 | c.679C>A (p.Leu227Met)
| |
12 | g.5044826C= | CA2013430901 | KCNA5 | c.679C= (p.Leu227=)
| |
12 | g.5044826C>G | CA383464936 | KCNA5 | c.679C>G (p.Leu227Val)
| |
12 | g.5044826C>T | CA478095182 | KCNA5 | c.679C>T (p.Leu227=)
| dbSNP |
12 | g.5044827T>A | CA383464937 | KCNA5 | c.680T>A (p.Leu227Gln)
| |
12 | g.5044827T>C | CA383464938 | KCNA5 | c.680T>C (p.Leu227Pro)
| |
12 | g.5044827T>G | CA383464939 | KCNA5 | c.680T>G (p.Leu227Arg)
| |
12 | g.5044828G>A | CA6399693 | KCNA5 | c.681G>A (p.Leu227=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044828G>C | CA478095184 | KCNA5 | c.681G>C (p.Leu227=)
| |
12 | g.5044828G= | CA2013430902 | KCNA5 | c.681G= (p.Leu227=)
| |
12 | g.5044828G>T | CA478095185 | KCNA5 | c.681G>T (p.Leu227=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044829C>A | CA6399694 | KCNA5 | c.682C>A (p.Pro228Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044829C= | CA2013430903 | KCNA5 | c.682C= (p.Pro228=)
| |
12 | g.5044829C>G | CA383464940 | KCNA5 | c.682C>G (p.Pro228Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044829C>T | CA231867649 | KCNA5 | c.682C>T (p.Pro228Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044830C>A | CA383464941 | KCNA5 | c.683C>A (p.Pro228His)
| ClinVar dbSNP |
12 | g.5044830C= | CA2013430904 | KCNA5 | c.683C= (p.Pro228=)
| |
12 | g.5044830C>G | CA383464943 | KCNA5 | c.683C>G (p.Pro228Arg)
| |
12 | g.5044830C>T | CA383464942 | KCNA5 | c.683C>T (p.Pro228Leu)
| |
12 | g.5044831C>A | CA478095186 | KCNA5 | c.684C>A (p.Pro228=)
| |
12 | g.5044831C>G | CA478095188 | KCNA5 | c.684C>G (p.Pro228=)
| |
12 | g.5044831C>T | CA478095187 | KCNA5 | c.684C>T (p.Pro228=)
| |
12 | g.5044832C>A | CA383464944 | KCNA5 | c.685C>A (p.Arg229Ser)
| |
12 | g.5044832C= | CA2013430905 | KCNA5 | c.685C= (p.Arg229=)
| |
12 | g.5044832C>G | CA383464946 | KCNA5 | c.685C>G (p.Arg229Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044832C>T | CA383464945 | KCNA5 | c.685C>T (p.Arg229Cys)
| dbSNP gnomAD v4 |
12 | g.5044833G>A | CA6399695 | KCNA5 | c.686G>A (p.Arg229His)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5044833G>C | CA383464948 | KCNA5 | c.686G>C (p.Arg229Pro)
| |
12 | g.5044833G= | CA2013430906 | KCNA5 | c.686G= (p.Arg229=)
| |
12 | g.5044833G>T | CA383464947 | KCNA5 | c.686G>T (p.Arg229Leu)
| dbSNP |
12 | g.5044834C>A | CA478095190 | KCNA5 | c.687C>A (p.Arg229=)
| gnomAD v4 |
12 | g.5044834C>G | CA478095191 | KCNA5 | c.687C>G (p.Arg229=)
| gnomAD v4 |
12 | g.5044834C>T | CA478095192 | KCNA5 | c.687C>T (p.Arg229=)
| |
12 | g.5044835A= | CA2013430907 | KCNA5 | c.688A= (p.Asn230=)
| |
12 | g.5044835A>C | CA383464949 | KCNA5 | c.688A>C (p.Asn230His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044835A>G | CA383464951 | KCNA5 | c.688A>G (p.Asn230Asp)
| |
12 | g.5044835A>T | CA383464950 | KCNA5 | c.688A>T (p.Asn230Tyr)
| |
12 | g.5044836A= | CA2013430908 | KCNA5 | c.689A= (p.Asn230=)
| |
12 | g.5044836A>C | CA383464952 | KCNA5 | c.689A>C (p.Asn230Thr)
| |
12 | g.5044836A>G | CA383464954 | KCNA5 | c.689A>G (p.Asn230Ser)
| ClinVar dbSNP |
12 | g.5044836A>T | CA383464953 | KCNA5 | c.689A>T (p.Asn230Ile)
| |
12 | g.5044837C>A | CA383464955 | KCNA5 | c.690C>A (p.Asn230Lys)
| gnomAD v4 |
12 | g.5044837C= | CA2013430909 | KCNA5 | c.690C= (p.Asn230=)
| |
12 | g.5044837C>G | CA6399696 | KCNA5 | c.690C>G (p.Asn230Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044837C>T | CA478095194 | KCNA5 | c.690C>T (p.Asn230=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044838G>A | CA383464956 | KCNA5 | c.691G>A (p.Glu231Lys)
| dbSNP gnomAD v4 |
12 | g.5044838G>C | CA383464958 | KCNA5 | c.691G>C (p.Glu231Gln)
| gnomAD v4 |
12 | g.5044838G= | CA2013430910 | KCNA5 | c.691G= (p.Glu231=)
| |
12 | g.5044838G>T | CA383464957 | KCNA5 | c.691G>T (p.Glu231Ter)
| |
12 | g.5044839A>C | CA383464959 | KCNA5 | c.692A>C (p.Glu231Ala)
| |
12 | g.5044839A>G | CA383464961 | KCNA5 | c.692A>G (p.Glu231Gly)
| |
12 | g.5044839A>T | CA383464960 | KCNA5 | c.692A>T (p.Glu231Val)
| gnomAD v4 |
12 | g.5044840G>A | CA478095195 | KCNA5 | c.693G>A (p.Glu231=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044840G>C | CA383464962 | KCNA5 | c.693G>C (p.Glu231Asp)
| |
12 | g.5044840G= | CA2013430911 | KCNA5 | c.693G= (p.Glu231=)
| |
12 | g.5044840G>T | CA6399697 | KCNA5 | c.693G>T (p.Glu231Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044841T>A | CA383464963 | KCNA5 | c.694T>A (p.Phe232Ile)
| |
12 | g.5044841T>C | CA383464964 | KCNA5 | c.694T>C (p.Phe232Leu)
| |
12 | g.5044841T>G | CA383464965 | KCNA5 | c.694T>G (p.Phe232Val)
| |
12 | g.5044842T>A | CA383464966 | KCNA5 | c.695T>A (p.Phe232Tyr)
| |
12 | g.5044842T>C | CA383464967 | KCNA5 | c.695T>C (p.Phe232Ser)
| |
12 | g.5044842T>G | CA383464968 | KCNA5 | c.695T>G (p.Phe232Cys)
| |
12 | g.5044843C>A | CA383464969 | KCNA5 | c.696C>A (p.Phe232Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044843C= | CA2013430912 | KCNA5 | c.696C= (p.Phe232=)
| |
12 | g.5044843C>G | CA383464970 | KCNA5 | c.696C>G (p.Phe232Leu)
| |
12 | g.5044843C>T | CA478095198 | KCNA5 | c.696C>T (p.Phe232=)
| |
12 | g.5044844C>A | CA383464973 | KCNA5 | c.697C>A (p.Gln233Lys)
| |
12 | g.5044844C>G | CA383464972 | KCNA5 | c.697C>G (p.Gln233Glu)
| |
12 | g.5044844C>T | CA383464971 | KCNA5 | c.697C>T (p.Gln233Ter)
| |
12 | g.5044845A>C | CA383464974 | KCNA5 | c.698A>C (p.Gln233Pro)
| |
12 | g.5044845A>G | CA383464975 | KCNA5 | c.698A>G (p.Gln233Arg)
| |
12 | g.5044845A>T | CA383464976 | KCNA5 | c.698A>T (p.Gln233Leu)
| |
12 | g.5044846G>A | CA478095200 | KCNA5 | c.699G>A (p.Gln233=)
| |
12 | g.5044846G>C | CA383464977 | KCNA5 | c.699G>C (p.Gln233His)
| |
12 | g.5044846G>T | CA383464978 | KCNA5 | c.699G>T (p.Gln233His)
| |
12 | g.5044847C>A | CA231867672 | KCNA5 | c.700C>A (p.Arg234Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044847C= | CA2013430913 | KCNA5 | c.700C= (p.Arg234=)
| |
12 | g.5044847C>G | CA383464979 | KCNA5 | c.700C>G (p.Arg234Gly)
| COSMIC |
12 | g.5044847C>T | CA6399698 | KCNA5 | c.700C>T (p.Arg234Cys)
| dbSNP ExAC gnomAD v2 COSMIC |
12 | g.5044848G>A | CA383464980 | KCNA5 | c.701G>A (p.Arg234His)
| COSMIC |
12 | g.5044848G>C | CA383464981 | KCNA5 | c.701G>C (p.Arg234Pro)
| |
12 | g.5044848G= | CA2013430914 | KCNA5 | c.701G= (p.Arg234=)
| |
12 | g.5044848G>T | CA236717 | KCNA5 | c.701G>T (p.Arg234Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044849C>A | CA478095295 | KCNA5 | c.702C>A (p.Arg234=)
| |
12 | g.5044849C>G | CA478095296 | KCNA5 | c.702C>G (p.Arg234=)
| |
12 | g.5044849C>T | CA478095294 | KCNA5 | c.702C>T (p.Arg234=)
| gnomAD v4 |
12 | g.5044850C>A | CA383464983 | KCNA5 | c.703C>A (p.Gln235Lys)
| |
12 | g.5044850C= | CA2013430915 | KCNA5 | c.703C= (p.Gln235=)
| |
12 | g.5044850C>G | CA383464982 | KCNA5 | c.703C>G (p.Gln235Glu)
| |
12 | g.5044850C>T | CA231867679 | KCNA5 | c.703C>T (p.Gln235Ter)
| dbSNP |
12 | g.5044851A= | CA2013430916 | KCNA5 | c.704A= (p.Gln235=)
| |
12 | g.5044851A>C | CA383464984 | KCNA5 | c.704A>C (p.Gln235Pro)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044851A>G | CA383464985 | KCNA5 | c.704A>G (p.Gln235Arg)
| dbSNP |
12 | g.5044851A>T | CA383464986 | KCNA5 | c.704A>T (p.Gln235Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044852G>A | CA478095300 | KCNA5 | c.705G>A (p.Gln235=)
| |
12 | g.5044852G>C | CA383464987 | KCNA5 | c.705G>C (p.Gln235His)
| |
12 | g.5044852G= | CA2013430917 | KCNA5 | c.705G= (p.Gln235=)
| |
12 | g.5044852G>T | CA6399699 | KCNA5 | c.705G>T (p.Gln235His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044853G>A | CA6399700 | KCNA5 | c.706G>A (p.Val236Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044853G>C | CA383464988 | KCNA5 | c.706G>C (p.Val236Leu)
| gnomAD v4 |
12 | g.5044853G= | CA2013430918 | KCNA5 | c.706G= (p.Val236=)
| |
12 | g.5044853G>T | CA383464989 | KCNA5 | c.706G>T (p.Val236Leu)
| gnomAD v4 |
12 | g.5044854T>A | CA383464990 | KCNA5 | c.707T>A (p.Val236Glu)
| |
12 | g.5044854T>C | CA383464991 | KCNA5 | c.707T>C (p.Val236Ala)
| gnomAD v4 |
12 | g.5044854T>G | CA383464992 | KCNA5 | c.707T>G (p.Val236Gly)
| |
12 | g.5044855G>A | CA478095304 | KCNA5 | c.708G>A (p.Val236=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044855G>C | CA478095305 | KCNA5 | c.708G>C (p.Val236=)
| |
12 | g.5044855G= | CA2013430919 | KCNA5 | c.708G= (p.Val236=)
| |
12 | g.5044855G>T | CA478095306 | KCNA5 | c.708G>T (p.Val236=)
| |
12 | g.5044856T>A | CA383464995 | KCNA5 | c.709T>A (p.Trp237Arg)
| |
12 | g.5044856T>C | CA383464994 | KCNA5 | c.709T>C (p.Trp237Arg)
| dbSNP gnomAD v2 |
12 | g.5044856T>G | CA383464993 | KCNA5 | c.709T>G (p.Trp237Gly)
| |
12 | g.5044856T= | CA2013430920 | KCNA5 | c.709T= (p.Trp237=)
| |
12 | g.5044857G>A | CA383464996 | KCNA5 | c.710G>A (p.Trp237Ter)
| gnomAD v4 |
12 | g.5044857G>C | CA383464997 | KCNA5 | c.710G>C (p.Trp237Ser)
| |
12 | g.5044857G>T | CA383464998 | KCNA5 | c.710G>T (p.Trp237Leu)
| |
12 | g.5044858G>A | CA383464999 | KCNA5 | c.711G>A (p.Trp237Ter)
| |
12 | g.5044858G>C | CA383465000 | KCNA5 | c.711G>C (p.Trp237Cys)
| |
12 | g.5044858G>T | CA383465001 | KCNA5 | c.711G>T (p.Trp237Cys)
| |
12 | g.5044859C>A | CA383465002 | KCNA5 | c.712C>A (p.Leu238Ile)
| |
12 | g.5044859C= | CA2013430921 | KCNA5 | c.712C= (p.Leu238=)
| |
12 | g.5044859C>G | CA383465003 | KCNA5 | c.712C>G (p.Leu238Val)
| |
12 | g.5044859C>T | CA6399701 | KCNA5 | c.712C>T (p.Leu238Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044860T>A | CA383465004 | KCNA5 | c.713T>A (p.Leu238His)
| |
12 | g.5044860T>C | CA383465005 | KCNA5 | c.713T>C (p.Leu238Pro)
| |
12 | g.5044860T>G | CA383465006 | KCNA5 | c.713T>G (p.Leu238Arg)
| |
12 | g.5044861T>A | CA478095312 | KCNA5 | c.714T>A (p.Leu238=)
| |
12 | g.5044861T>C | CA478095313 | KCNA5 | c.714T>C (p.Leu238=)
| |
12 | g.5044861T>G | CA231867712 | KCNA5 | c.714T>G (p.Leu238=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044861T= | CA2013430922 | KCNA5 | c.714T= (p.Leu238=)
| |
12 | g.5044862A>C | CA383465008 | KCNA5 | c.715A>C (p.Ile239Leu)
| |
12 | g.5044862A>G | CA383465007 | KCNA5 | c.715A>G (p.Ile239Val)
| |
12 | g.5044862A>T | CA383465009 | KCNA5 | c.715A>T (p.Ile239Phe)
| |
12 | g.5044863T>A | CA383465010 | KCNA5 | c.716T>A (p.Ile239Asn)
| |
12 | g.5044863T>C | CA383465011 | KCNA5 | c.716T>C (p.Ile239Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044863T>G | CA383465012 | KCNA5 | c.716T>G (p.Ile239Ser)
| |
12 | g.5044863T= | CA2013430923 | KCNA5 | c.716T= (p.Ile239=)
| |
12 | g.5044864C>A | CA478095316 | KCNA5 | c.717C>A (p.Ile239=)
| COSMIC |
12 | g.5044864C= | CA2013430924 | KCNA5 | c.717C= (p.Ile239=)
| |
12 | g.5044864C>G | CA383465013 | KCNA5 | c.717C>G (p.Ile239Met)
| |
12 | g.5044864C>T | CA6399702 | KCNA5 | c.717C>T (p.Ile239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044865T>A | CA383465014 | KCNA5 | c.718T>A (p.Phe240Ile)
| |
12 | g.5044865T>C | CA383465015 | KCNA5 | c.718T>C (p.Phe240Leu)
| |
12 | g.5044865T>G | CA383465016 | KCNA5 | c.718T>G (p.Phe240Val)
| |