Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.5044765G>ACA6399673KCNA5c.618G>A (p.Gly206=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044765G>CCA478095131KCNA5c.618G>C (p.Gly206=)
12g.5044765G=CA2013430863KCNA5c.618G= (p.Gly206=)
12g.5044765G>TCA478095132KCNA5c.618G>T (p.Gly206=)
12g.5044766G>ACA6399674KCNA5c.619G>A (p.Asp207Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044766G>CCA383464801KCNA5c.619G>C (p.Asp207His)
dbSNP
12g.5044766G=CA2013430864KCNA5c.619G= (p.Asp207=)
12g.5044766G>TCA383464802KCNA5c.619G>T (p.Asp207Tyr)
gnomAD v4
12g.5044767A>CCA383464804KCNA5c.620A>C (p.Asp207Ala)
12g.5044767A>GCA383464805KCNA5c.620A>G (p.Asp207Gly)
12g.5044767A>TCA383464803KCNA5c.620A>T (p.Asp207Val)
12g.5044768C>ACA383464806KCNA5c.621C>A (p.Asp207Glu)
12g.5044768C=CA2013430865KCNA5c.621C= (p.Asp207=)
12g.5044768C>GCA6399675KCNA5c.621C>G (p.Asp207Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044768C>TCA478095135KCNA5c.621C>T (p.Asp207=)
ClinVar dbSNP gnomAD v4
12g.5044769G>ACA383464807KCNA5c.622G>A (p.Glu208Lys)
ClinVar dbSNP gnomAD v4 COSMIC
12g.5044769G>CCA383464808KCNA5c.622G>C (p.Glu208Gln)
gnomAD v4
12g.5044769G=CA2013430866KCNA5c.622G= (p.Glu208=)
12g.5044769G>TCA6399676KCNA5c.622G>T (p.Glu208Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044770A>CCA383464811KCNA5c.623A>C (p.Glu208Ala)
12g.5044770A>GCA383464810KCNA5c.623A>G (p.Glu208Gly)
12g.5044770A>TCA383464809KCNA5c.623A>T (p.Glu208Val)
12g.5044771G>ACA6399677KCNA5c.624G>A (p.Glu208=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044771G>CCA383464812KCNA5c.624G>C (p.Glu208Asp)
gnomAD v4
12g.5044771G=CA2013430867KCNA5c.624G= (p.Glu208=)
12g.5044771G>TCA383464813KCNA5c.624G>T (p.Glu208Asp)
12g.5044772G>ACA383464814KCNA5c.625G>A (p.Ala209Thr)
12g.5044772G>CCA383464815KCNA5c.625G>C (p.Ala209Pro)
gnomAD v4
12g.5044772G>TCA383464816KCNA5c.625G>T (p.Ala209Ser)
12g.5044773C>ACA383464817KCNA5c.626C>A (p.Ala209Asp)
12g.5044773C=CA2013430868KCNA5c.626C= (p.Ala209=)
12g.5044773C>GCA383464818KCNA5c.626C>G (p.Ala209Gly)
dbSNP
12g.5044773C>TCA6399678KCNA5c.626C>T (p.Ala209Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044774C>ACA478095142KCNA5c.627C>A (p.Ala209=)
12g.5044774C>GCA478095141KCNA5c.627C>G (p.Ala209=)
12g.5044774C>TCA478095139KCNA5c.627C>T (p.Ala209=)
12g.5044775A=CA2013430869KCNA5c.628A= (p.Met210=)
12g.5044775A>CCA231867577KCNA5c.628A>C (p.Met210Leu)
dbSNP
12g.5044775A>GCA383464819KCNA5c.628A>G (p.Met210Val)
12g.5044775A>TCA383464820KCNA5c.628A>T (p.Met210Leu)
12g.5044776T>ACA383464821KCNA5c.629T>A (p.Met210Lys)
12g.5044776T>CCA383464822KCNA5c.629T>C (p.Met210Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5044776T>GCA383464823KCNA5c.629T>G (p.Met210Arg)
12g.5044776T=CA2013430871KCNA5c.629T= (p.Met210=)
12g.5044776_5044777delinsTGCA2013430870KCNA5c.629_630delinsTG (p.Met210=)
12g.5044777G>ACA383464824KCNA5c.630G>A (p.Met210Ile)
COSMIC
12g.5044777G>CCA383464825KCNA5c.630G>C (p.Met210Ile)
12g.5044777G>TCA383464826KCNA5c.630G>T (p.Met210Ile)
gnomAD v4
12g.5044778delCA919011934KCNA5c.631del (p.Glu211SerfsTer?)
dbSNP gnomAD v4
12g.5044778G>ACA383464827KCNA5c.631G>A (p.Glu211Lys)
ClinVar COSMIC
12g.5044778G>CCA383464828KCNA5c.631G>C (p.Glu211Gln)
ClinVar dbSNP gnomAD v4
12g.5044778G=CA2013430872KCNA5c.631G= (p.Glu211=)
12g.5044778G>TCA383464829KCNA5c.631G>T (p.Glu211Ter)
12g.5044779A>CCA383464831KCNA5c.632A>C (p.Glu211Ala)
12g.5044779A>GCA383464832KCNA5c.632A>G (p.Glu211Gly)
12g.5044779A>TCA383464830KCNA5c.632A>T (p.Glu211Val)
12g.5044780G>ACA478095145KCNA5c.633G>A (p.Glu211=)
12g.5044780G>CCA278491KCNA5c.633G>C (p.Glu211Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044780G=CA2013430873KCNA5c.633G= (p.Glu211=)
12g.5044780G>TCA383464833KCNA5c.633G>T (p.Glu211Asp)
12g.5044781C>ACA6399679KCNA5c.634C>A (p.Arg212Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044781C=CA2013430874KCNA5c.634C= (p.Arg212=)
12g.5044781C>GCA383464834KCNA5c.634C>G (p.Arg212Gly)
12g.5044781C>TCA236715KCNA5c.634C>T (p.Arg212Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044781dupCA689645217KCNA5c.634dup (p.Arg212ProfsTer6)
dbSNP
12g.5044782G>ACA383464835KCNA5c.635G>A (p.Arg212His)
ClinVar COSMIC
12g.5044782G>CCA383464836KCNA5c.635G>C (p.Arg212Pro)
12g.5044782G>TCA383464837KCNA5c.635G>T (p.Arg212Leu)
12g.5044783C>ACA478095147KCNA5c.636C>A (p.Arg212=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044783C=CA2013430875KCNA5c.636C= (p.Arg212=)
12g.5044783C>GCA6399680KCNA5c.636C>G (p.Arg212=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044783C>TCA478095146KCNA5c.636C>T (p.Arg212=)
12g.5044784T>ACA383464840KCNA5c.637T>A (p.Phe213Ile)
12g.5044784T>CCA383464838KCNA5c.637T>C (p.Phe213Leu)
12g.5044784T>GCA383464839KCNA5c.637T>G (p.Phe213Val)
12g.5044785T>ACA383464841KCNA5c.638T>A (p.Phe213Tyr)
COSMIC
12g.5044785T>CCA6399681KCNA5c.638T>C (p.Phe213Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044785T>GCA383464842KCNA5c.638T>G (p.Phe213Cys)
12g.5044785T=CA2013430876KCNA5c.638T= (p.Phe213=)
12g.5044786C>ACA383464843KCNA5c.639C>A (p.Phe213Leu)
12g.5044786C=CA2013430877KCNA5c.639C= (p.Phe213=)
12g.5044786C>GCA6399682KCNA5c.639C>G (p.Phe213Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044786C>TCA478095151KCNA5c.639C>T (p.Phe213=)
gnomAD v4
12g.5044787C>ACA383464844KCNA5c.640C>A (p.Arg214Ser)
12g.5044787C=CA2013430878KCNA5c.640C= (p.Arg214=)
12g.5044787C>GCA231867612KCNA5c.640C>G (p.Arg214Gly)
dbSNP
12g.5044787C>TCA6399683KCNA5c.640C>T (p.Arg214Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044788G>ACA383464845KCNA5c.641G>A (p.Arg214His)
ClinVar dbSNP COSMIC
12g.5044788G>CCA383464846KCNA5c.641G>C (p.Arg214Pro)
12g.5044788G=CA2013430879KCNA5c.641G= (p.Arg214=)
12g.5044788G>TCA383464847KCNA5c.641G>T (p.Arg214Leu)
dbSNP
12g.5044789C>ACA6399684KCNA5c.642C>A (p.Arg214=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044789C=CA2013430880KCNA5c.642C= (p.Arg214=)
12g.5044789C>GCA478095155KCNA5c.642C>G (p.Arg214=)
12g.5044789C>TCA478095156KCNA5c.642C>T (p.Arg214=)
12g.5044790G>ACA383464848KCNA5c.643G>A (p.Glu215Lys)
gnomAD v4 COSMIC
12g.5044790G>CCA383464849KCNA5c.643G>C (p.Glu215Gln)
12g.5044790G>TCA383464850KCNA5c.643G>T (p.Glu215Ter)
gnomAD v4
12g.5044791A>CCA383464851KCNA5c.644A>C (p.Glu215Ala)
12g.5044791A>GCA383464852KCNA5c.644A>G (p.Glu215Gly)
dbSNP gnomAD v4
12g.5044791A>TCA383464853KCNA5c.644A>T (p.Glu215Val)
12g.5044792G>ACA6399685KCNA5c.645G>A (p.Glu215=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044792G>CCA383464855KCNA5c.645G>C (p.Glu215Asp)
12g.5044792G=CA2013430881KCNA5c.645G= (p.Glu215=)
12g.5044792G>TCA383464854KCNA5c.645G>T (p.Glu215Asp)
12g.5044793G>ACA383464856KCNA5c.646G>A (p.Asp216Asn)
12g.5044793G>CCA6399686KCNA5c.646G>C (p.Asp216His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044793G=CA2013430882KCNA5c.646G= (p.Asp216=)
12g.5044793G>TCA383464857KCNA5c.646G>T (p.Asp216Tyr)
COSMIC
12g.5044794A>CCA383464858KCNA5c.647A>C (p.Asp216Ala)
12g.5044794A>GCA383464859KCNA5c.647A>G (p.Asp216Gly)
gnomAD v4 COSMIC
12g.5044794A>TCA383464860KCNA5c.647A>T (p.Asp216Val)
12g.5044795T>ACA383464862KCNA5c.648T>A (p.Asp216Glu)
12g.5044795T>CCA478095159KCNA5c.648T>C (p.Asp216=)
12g.5044795T>GCA383464861KCNA5c.648T>G (p.Asp216Glu)
12g.5044796G>ACA383464863KCNA5c.649G>A (p.Glu217Lys)
dbSNP gnomAD v4
12g.5044796G>CCA383464864KCNA5c.649G>C (p.Glu217Gln)
gnomAD v4
12g.5044796G=CA2013430883KCNA5c.649G= (p.Glu217=)
12g.5044796G>TCA383464865KCNA5c.649G>T (p.Glu217Ter)
12g.5044797A=CA2013430884KCNA5c.650A= (p.Glu217=)
12g.5044797A>CCA383464866KCNA5c.650A>C (p.Glu217Ala)
dbSNP
12g.5044797A>GCA383464867KCNA5c.650A>G (p.Glu217Gly)
12g.5044797A>TCA383464868KCNA5c.650A>T (p.Glu217Val)
12g.5044798G>ACA6399687KCNA5c.651G>A (p.Glu217=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044798G>CCA383464870KCNA5c.651G>C (p.Glu217Asp)
12g.5044798G=CA2013430885KCNA5c.651G= (p.Glu217=)
12g.5044798G>TCA383464869KCNA5c.651G>T (p.Glu217Asp)
12g.5044799G>ACA383464871KCNA5c.652G>A (p.Gly218Ser)
12g.5044799G>CCA383464872KCNA5c.652G>C (p.Gly218Arg)
12g.5044799G>TCA383464873KCNA5c.652G>T (p.Gly218Cys)
12g.5044800G>ACA383464874KCNA5c.653G>A (p.Gly218Asp)
12g.5044800G>CCA383464875KCNA5c.653G>C (p.Gly218Ala)
12g.5044800G=CA2013430886KCNA5c.653G= (p.Gly218=)
12g.5044800G>TCA6399688KCNA5c.653G>T (p.Gly218Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044801C>ACA478095162KCNA5c.654C>A (p.Gly218=)
12g.5044801C>GCA478095163KCNA5c.654C>G (p.Gly218=)
12g.5044801C>TCA478095161KCNA5c.654C>T (p.Gly218=)
12g.5044802T>ACA383464876KCNA5c.655T>A (p.Phe219Ile)
12g.5044802T>CCA383464877KCNA5c.655T>C (p.Phe219Leu)
12g.5044802T>GCA383464878KCNA5c.655T>G (p.Phe219Val)
12g.5044803T>ACA383464879KCNA5c.656T>A (p.Phe219Tyr)
12g.5044803T>CCA383464880KCNA5c.656T>C (p.Phe219Ser)
12g.5044803T>GCA383464881KCNA5c.656T>G (p.Phe219Cys)
12g.5044804C>ACA383464883KCNA5c.657C>A (p.Phe219Leu)
12g.5044804C=CA2013430887KCNA5c.657C= (p.Phe219=)
12g.5044804C>GCA383464882KCNA5c.657C>G (p.Phe219Leu)
12g.5044804C>TCA478095165KCNA5c.657C>T (p.Phe219=)
dbSNP
12g.5044805A=CA2013430888KCNA5c.658A= (p.Ile220=)
12g.5044805A>CCA383464884KCNA5c.658A>C (p.Ile220Leu)
dbSNP gnomAD v2 gnomAD v4
12g.5044805A>GCA383464886KCNA5c.658A>G (p.Ile220Val)
12g.5044805A>TCA383464885KCNA5c.658A>T (p.Ile220Phe)
12g.5044806T>ACA383464887KCNA5c.659T>A (p.Ile220Asn)
12g.5044806T>CCA383464888KCNA5c.659T>C (p.Ile220Thr)
12g.5044806T>GCA383464889KCNA5c.659T>G (p.Ile220Ser)
12g.5044807T>ACA478095168KCNA5c.660T>A (p.Ile220=)
12g.5044807T>CCA478095166KCNA5c.660T>C (p.Ile220=)
dbSNP gnomAD v4
12g.5044807T>GCA383464890KCNA5c.660T>G (p.Ile220Met)
12g.5044807T=CA2013430889KCNA5c.660T= (p.Ile220=)
12g.5044808A>CCA383464891KCNA5c.661A>C (p.Lys221Gln)
12g.5044808A>GCA383464892KCNA5c.661A>G (p.Lys221Glu)
12g.5044808A>TCA383464893KCNA5c.661A>T (p.Lys221Ter)
12g.5044809A=CA2013430890KCNA5c.662A= (p.Lys221=)
12g.5044809A>CCA383464894KCNA5c.662A>C (p.Lys221Thr)
12g.5044809A>GCA231867640KCNA5c.662A>G (p.Lys221Arg)
dbSNP gnomAD v3 gnomAD v4
12g.5044809A>TCA383464895KCNA5c.662A>T (p.Lys221Ile)
12g.5044813_5044815delCA2617209903KCNA5c.666_668del (p.Glu223del)
gnomAD v4
12g.5044810A>CCA383464896KCNA5c.663A>C (p.Lys221Asn)
12g.5044810A>GCA478095169KCNA5c.663A>G (p.Lys221=)
12g.5044810A>TCA383464897KCNA5c.663A>T (p.Lys221Asn)
12g.5044811G>ACA383464900KCNA5c.664G>A (p.Glu222Lys)
gnomAD v4
12g.5044811G>CCA383464898KCNA5c.664G>C (p.Glu222Gln)
12g.5044811G>TCA383464899KCNA5c.664G>T (p.Glu222Ter)
12g.5044812A>CCA383464901KCNA5c.665A>C (p.Glu222Ala)
12g.5044812A>GCA383464902KCNA5c.665A>G (p.Glu222Gly)
12g.5044812A>TCA383464903KCNA5c.665A>T (p.Glu222Val)
12g.5044813A>CCA383464904KCNA5c.666A>C (p.Glu222Asp)
gnomAD v4
12g.5044813A>GCA478095172KCNA5c.666A>G (p.Glu222=)
12g.5044813A>TCA383464905KCNA5c.666A>T (p.Glu222Asp)
12g.5044813_5044814delinsAGCA2013430892KCNA5c.666_667delinsAG (p.Glu222=)
12g.5044813_5044816delinsAGAGCA2013430891KCNA5c.666_669delinsAGAG (p.Glu222=)
12g.5044814delCA2013430893KCNA5c.667del (p.Glu223ArgfsTer?)
dbSNP gnomAD v4
12g.5044814G>ACA6399690KCNA5c.667G>A (p.Glu223Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044814G>CCA383464906KCNA5c.667G>C (p.Glu223Gln)
gnomAD v4
12g.5044814G=CA2013430894KCNA5c.667G= (p.Glu223=)
12g.5044814G>TCA383464907KCNA5c.667G>T (p.Glu223Ter)
12g.5044817_5044819delCA6399689KCNA5c.670_672del (p.Glu224del)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044815A>CCA383464908KCNA5c.668A>C (p.Glu223Ala)
12g.5044815A>GCA383464909KCNA5c.668A>G (p.Glu223Gly)
12g.5044815A>TCA383464910KCNA5c.668A>T (p.Glu223Val)
COSMIC
12g.5044815_5044816delinsAGCA2013430895KCNA5c.668_669delinsAG (p.Glu223=)
12g.5044816G>ACA478095173KCNA5c.669G>A (p.Glu223=)
12g.5044816G>CCA383464912KCNA5c.669G>C (p.Glu223Asp)
dbSNP
12g.5044816G=CA2013430896KCNA5c.669G= (p.Glu223=)
12g.5044816G>TCA383464911KCNA5c.669G>T (p.Glu223Asp)
12g.5044817delCA1139662474KCNA5c.670del (p.Glu224ArgfsTer?)
ClinVar dbSNP
12g.5044817G>ACA383464913KCNA5c.670G>A (p.Glu224Lys)
dbSNP gnomAD v3 gnomAD v4
12g.5044817G>CCA383464915KCNA5c.670G>C (p.Glu224Gln)
12g.5044817G=CA2013430897KCNA5c.670G= (p.Glu224=)
12g.5044817G>TCA383464914KCNA5c.670G>T (p.Glu224Ter)
12g.5044818A>CCA383464916KCNA5c.671A>C (p.Glu224Ala)
12g.5044818A>GCA383464917KCNA5c.671A>G (p.Glu224Gly)
12g.5044818A>TCA383464918KCNA5c.671A>T (p.Glu224Val)
12g.5044819G>ACA478095177KCNA5c.672G>A (p.Glu224=)
gnomAD v4
12g.5044819G>CCA383464919KCNA5c.672G>C (p.Glu224Asp)
dbSNP
12g.5044819G>TCA383464920KCNA5c.672G>T (p.Glu224Asp)
12g.5044820A>CCA383464921KCNA5c.673A>C (p.Lys225Gln)
12g.5044820A>GCA383464922KCNA5c.673A>G (p.Lys225Glu)
12g.5044820A>TCA383464923KCNA5c.673A>T (p.Lys225Ter)
gnomAD v4
12g.5044821A>CCA383464924KCNA5c.674A>C (p.Lys225Thr)
12g.5044821A>GCA383464925KCNA5c.674A>G (p.Lys225Arg)
gnomAD v4
12g.5044821A>TCA383464926KCNA5c.674A>T (p.Lys225Met)
12g.5044822G>ACA6399691KCNA5c.675G>A (p.Lys225=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044822G>CCA383464928KCNA5c.675G>C (p.Lys225Asn)
12g.5044822G=CA2013430898KCNA5c.675G= (p.Lys225=)
12g.5044822G>TCA383464927KCNA5c.675G>T (p.Lys225Asn)
12g.5044823C>ACA383464929KCNA5c.676C>A (p.Pro226Thr)
12g.5044823C=CA2013430899KCNA5c.676C= (p.Pro226=)
12g.5044823C>GCA383464930KCNA5c.676C>G (p.Pro226Ala)
12g.5044823C>TCA383464931KCNA5c.676C>T (p.Pro226Ser)
gnomAD v4
12g.5044824C>ACA383464932KCNA5c.677C>A (p.Pro226His)
gnomAD v4
12g.5044824C>GCA383464933KCNA5c.677C>G (p.Pro226Arg)
12g.5044824C>TCA383464934KCNA5c.677C>T (p.Pro226Leu)
gnomAD v4
12g.5044824_5044827dupCA603482588KCNA5c.677_680dup (p.Arg229AlafsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044825C>ACA6399692KCNA5c.678C>A (p.Pro226=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044825C=CA2013430900KCNA5c.678C= (p.Pro226=)
12g.5044825C>GCA478095180KCNA5c.678C>G (p.Pro226=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5044825C>TCA478095179KCNA5c.678C>T (p.Pro226=)
gnomAD v4
12g.5044826C>ACA383464935KCNA5c.679C>A (p.Leu227Met)
12g.5044826C=CA2013430901KCNA5c.679C= (p.Leu227=)
12g.5044826C>GCA383464936KCNA5c.679C>G (p.Leu227Val)
12g.5044826C>TCA478095182KCNA5c.679C>T (p.Leu227=)
dbSNP
12g.5044827T>ACA383464937KCNA5c.680T>A (p.Leu227Gln)
12g.5044827T>CCA383464938KCNA5c.680T>C (p.Leu227Pro)
12g.5044827T>GCA383464939KCNA5c.680T>G (p.Leu227Arg)
12g.5044828G>ACA6399693KCNA5c.681G>A (p.Leu227=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044828G>CCA478095184KCNA5c.681G>C (p.Leu227=)
12g.5044828G=CA2013430902KCNA5c.681G= (p.Leu227=)
12g.5044828G>TCA478095185KCNA5c.681G>T (p.Leu227=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5044829C>ACA6399694KCNA5c.682C>A (p.Pro228Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044829C=CA2013430903KCNA5c.682C= (p.Pro228=)
12g.5044829C>GCA383464940KCNA5c.682C>G (p.Pro228Ala)
dbSNP gnomAD v3 gnomAD v4
12g.5044829C>TCA231867649KCNA5c.682C>T (p.Pro228Ser)
dbSNP gnomAD v2 gnomAD v4
12g.5044830C>ACA383464941KCNA5c.683C>A (p.Pro228His)
ClinVar dbSNP
12g.5044830C=CA2013430904KCNA5c.683C= (p.Pro228=)
12g.5044830C>GCA383464943KCNA5c.683C>G (p.Pro228Arg)
12g.5044830C>TCA383464942KCNA5c.683C>T (p.Pro228Leu)
12g.5044831C>ACA478095186KCNA5c.684C>A (p.Pro228=)
12g.5044831C>GCA478095188KCNA5c.684C>G (p.Pro228=)
12g.5044831C>TCA478095187KCNA5c.684C>T (p.Pro228=)
12g.5044832C>ACA383464944KCNA5c.685C>A (p.Arg229Ser)
12g.5044832C=CA2013430905KCNA5c.685C= (p.Arg229=)
12g.5044832C>GCA383464946KCNA5c.685C>G (p.Arg229Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5044832C>TCA383464945KCNA5c.685C>T (p.Arg229Cys)
dbSNP gnomAD v4
12g.5044833G>ACA6399695KCNA5c.686G>A (p.Arg229His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.5044833G>CCA383464948KCNA5c.686G>C (p.Arg229Pro)
12g.5044833G=CA2013430906KCNA5c.686G= (p.Arg229=)
12g.5044833G>TCA383464947KCNA5c.686G>T (p.Arg229Leu)
dbSNP
12g.5044834C>ACA478095190KCNA5c.687C>A (p.Arg229=)
gnomAD v4
12g.5044834C>GCA478095191KCNA5c.687C>G (p.Arg229=)
gnomAD v4
12g.5044834C>TCA478095192KCNA5c.687C>T (p.Arg229=)
12g.5044835A=CA2013430907KCNA5c.688A= (p.Asn230=)
12g.5044835A>CCA383464949KCNA5c.688A>C (p.Asn230His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044835A>GCA383464951KCNA5c.688A>G (p.Asn230Asp)
12g.5044835A>TCA383464950KCNA5c.688A>T (p.Asn230Tyr)
12g.5044836A=CA2013430908KCNA5c.689A= (p.Asn230=)
12g.5044836A>CCA383464952KCNA5c.689A>C (p.Asn230Thr)
12g.5044836A>GCA383464954KCNA5c.689A>G (p.Asn230Ser)
ClinVar dbSNP
12g.5044836A>TCA383464953KCNA5c.689A>T (p.Asn230Ile)
12g.5044837C>ACA383464955KCNA5c.690C>A (p.Asn230Lys)
gnomAD v4
12g.5044837C=CA2013430909KCNA5c.690C= (p.Asn230=)
12g.5044837C>GCA6399696KCNA5c.690C>G (p.Asn230Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044837C>TCA478095194KCNA5c.690C>T (p.Asn230=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5044838G>ACA383464956KCNA5c.691G>A (p.Glu231Lys)
dbSNP gnomAD v4
12g.5044838G>CCA383464958KCNA5c.691G>C (p.Glu231Gln)
gnomAD v4
12g.5044838G=CA2013430910KCNA5c.691G= (p.Glu231=)
12g.5044838G>TCA383464957KCNA5c.691G>T (p.Glu231Ter)
12g.5044839A>CCA383464959KCNA5c.692A>C (p.Glu231Ala)
12g.5044839A>GCA383464961KCNA5c.692A>G (p.Glu231Gly)
12g.5044839A>TCA383464960KCNA5c.692A>T (p.Glu231Val)
gnomAD v4
12g.5044840G>ACA478095195KCNA5c.693G>A (p.Glu231=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044840G>CCA383464962KCNA5c.693G>C (p.Glu231Asp)
12g.5044840G=CA2013430911KCNA5c.693G= (p.Glu231=)
12g.5044840G>TCA6399697KCNA5c.693G>T (p.Glu231Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044841T>ACA383464963KCNA5c.694T>A (p.Phe232Ile)
12g.5044841T>CCA383464964KCNA5c.694T>C (p.Phe232Leu)
12g.5044841T>GCA383464965KCNA5c.694T>G (p.Phe232Val)
12g.5044842T>ACA383464966KCNA5c.695T>A (p.Phe232Tyr)
12g.5044842T>CCA383464967KCNA5c.695T>C (p.Phe232Ser)
12g.5044842T>GCA383464968KCNA5c.695T>G (p.Phe232Cys)
12g.5044843C>ACA383464969KCNA5c.696C>A (p.Phe232Leu)
dbSNP gnomAD v2 gnomAD v4
12g.5044843C=CA2013430912KCNA5c.696C= (p.Phe232=)
12g.5044843C>GCA383464970KCNA5c.696C>G (p.Phe232Leu)
12g.5044843C>TCA478095198KCNA5c.696C>T (p.Phe232=)
12g.5044844C>ACA383464973KCNA5c.697C>A (p.Gln233Lys)
12g.5044844C>GCA383464972KCNA5c.697C>G (p.Gln233Glu)
12g.5044844C>TCA383464971KCNA5c.697C>T (p.Gln233Ter)
12g.5044845A>CCA383464974KCNA5c.698A>C (p.Gln233Pro)
12g.5044845A>GCA383464975KCNA5c.698A>G (p.Gln233Arg)
12g.5044845A>TCA383464976KCNA5c.698A>T (p.Gln233Leu)
12g.5044846G>ACA478095200KCNA5c.699G>A (p.Gln233=)
12g.5044846G>CCA383464977KCNA5c.699G>C (p.Gln233His)
12g.5044846G>TCA383464978KCNA5c.699G>T (p.Gln233His)
12g.5044847C>ACA231867672KCNA5c.700C>A (p.Arg234Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044847C=CA2013430913KCNA5c.700C= (p.Arg234=)
12g.5044847C>GCA383464979KCNA5c.700C>G (p.Arg234Gly)
COSMIC
12g.5044847C>TCA6399698KCNA5c.700C>T (p.Arg234Cys)
dbSNP ExAC gnomAD v2 COSMIC
12g.5044848G>ACA383464980KCNA5c.701G>A (p.Arg234His)
COSMIC
12g.5044848G>CCA383464981KCNA5c.701G>C (p.Arg234Pro)
12g.5044848G=CA2013430914KCNA5c.701G= (p.Arg234=)
12g.5044848G>TCA236717KCNA5c.701G>T (p.Arg234Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044849C>ACA478095295KCNA5c.702C>A (p.Arg234=)
12g.5044849C>GCA478095296KCNA5c.702C>G (p.Arg234=)
12g.5044849C>TCA478095294KCNA5c.702C>T (p.Arg234=)
gnomAD v4
12g.5044850C>ACA383464983KCNA5c.703C>A (p.Gln235Lys)
12g.5044850C=CA2013430915KCNA5c.703C= (p.Gln235=)
12g.5044850C>GCA383464982KCNA5c.703C>G (p.Gln235Glu)
12g.5044850C>TCA231867679KCNA5c.703C>T (p.Gln235Ter)
dbSNP
12g.5044851A=CA2013430916KCNA5c.704A= (p.Gln235=)
12g.5044851A>CCA383464984KCNA5c.704A>C (p.Gln235Pro)
ClinVar dbSNP gnomAD v4
12g.5044851A>GCA383464985KCNA5c.704A>G (p.Gln235Arg)
dbSNP
12g.5044851A>TCA383464986KCNA5c.704A>T (p.Gln235Leu)
dbSNP gnomAD v3 gnomAD v4
12g.5044852G>ACA478095300KCNA5c.705G>A (p.Gln235=)
12g.5044852G>CCA383464987KCNA5c.705G>C (p.Gln235His)
12g.5044852G=CA2013430917KCNA5c.705G= (p.Gln235=)
12g.5044852G>TCA6399699KCNA5c.705G>T (p.Gln235His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044853G>ACA6399700KCNA5c.706G>A (p.Val236Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044853G>CCA383464988KCNA5c.706G>C (p.Val236Leu)
gnomAD v4
12g.5044853G=CA2013430918KCNA5c.706G= (p.Val236=)
12g.5044853G>TCA383464989KCNA5c.706G>T (p.Val236Leu)
gnomAD v4
12g.5044854T>ACA383464990KCNA5c.707T>A (p.Val236Glu)
12g.5044854T>CCA383464991KCNA5c.707T>C (p.Val236Ala)
gnomAD v4
12g.5044854T>GCA383464992KCNA5c.707T>G (p.Val236Gly)
12g.5044855G>ACA478095304KCNA5c.708G>A (p.Val236=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044855G>CCA478095305KCNA5c.708G>C (p.Val236=)
12g.5044855G=CA2013430919KCNA5c.708G= (p.Val236=)
12g.5044855G>TCA478095306KCNA5c.708G>T (p.Val236=)
12g.5044856T>ACA383464995KCNA5c.709T>A (p.Trp237Arg)
12g.5044856T>CCA383464994KCNA5c.709T>C (p.Trp237Arg)
dbSNP gnomAD v2
12g.5044856T>GCA383464993KCNA5c.709T>G (p.Trp237Gly)
12g.5044856T=CA2013430920KCNA5c.709T= (p.Trp237=)
12g.5044857G>ACA383464996KCNA5c.710G>A (p.Trp237Ter)
gnomAD v4
12g.5044857G>CCA383464997KCNA5c.710G>C (p.Trp237Ser)
12g.5044857G>TCA383464998KCNA5c.710G>T (p.Trp237Leu)
12g.5044858G>ACA383464999KCNA5c.711G>A (p.Trp237Ter)
12g.5044858G>CCA383465000KCNA5c.711G>C (p.Trp237Cys)
12g.5044858G>TCA383465001KCNA5c.711G>T (p.Trp237Cys)
12g.5044859C>ACA383465002KCNA5c.712C>A (p.Leu238Ile)
12g.5044859C=CA2013430921KCNA5c.712C= (p.Leu238=)
12g.5044859C>GCA383465003KCNA5c.712C>G (p.Leu238Val)
12g.5044859C>TCA6399701KCNA5c.712C>T (p.Leu238Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044860T>ACA383465004KCNA5c.713T>A (p.Leu238His)
12g.5044860T>CCA383465005KCNA5c.713T>C (p.Leu238Pro)
12g.5044860T>GCA383465006KCNA5c.713T>G (p.Leu238Arg)
12g.5044861T>ACA478095312KCNA5c.714T>A (p.Leu238=)
12g.5044861T>CCA478095313KCNA5c.714T>C (p.Leu238=)
12g.5044861T>GCA231867712KCNA5c.714T>G (p.Leu238=)
dbSNP gnomAD v2 gnomAD v4
12g.5044861T=CA2013430922KCNA5c.714T= (p.Leu238=)
12g.5044862A>CCA383465008KCNA5c.715A>C (p.Ile239Leu)
12g.5044862A>GCA383465007KCNA5c.715A>G (p.Ile239Val)
12g.5044862A>TCA383465009KCNA5c.715A>T (p.Ile239Phe)
12g.5044863T>ACA383465010KCNA5c.716T>A (p.Ile239Asn)
12g.5044863T>CCA383465011KCNA5c.716T>C (p.Ile239Thr)
dbSNP gnomAD v2 gnomAD v4
12g.5044863T>GCA383465012KCNA5c.716T>G (p.Ile239Ser)
12g.5044863T=CA2013430923KCNA5c.716T= (p.Ile239=)
12g.5044864C>ACA478095316KCNA5c.717C>A (p.Ile239=)
COSMIC
12g.5044864C=CA2013430924KCNA5c.717C= (p.Ile239=)
12g.5044864C>GCA383465013KCNA5c.717C>G (p.Ile239Met)
12g.5044864C>TCA6399702KCNA5c.717C>T (p.Ile239=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5044865T>ACA383465014KCNA5c.718T>A (p.Phe240Ile)
12g.5044865T>CCA383465015KCNA5c.718T>C (p.Phe240Leu)
12g.5044865T>GCA383465016KCNA5c.718T>G (p.Phe240Val)

Number of alleles fetched