Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128911915G>ACA477703786KCNJ5c.642G>A (p.Lys214=)
gnomAD v4
11g.128911915G>CCA383249464KCNJ5c.642G>C (p.Lys214Asn)
11g.128911915G>TCA383249466KCNJ5c.642G>T (p.Lys214Asn)
11g.128911915_128911918delCA2616775470KCNJ5c.642_645del (p.Lys214AsnfsTer?)
gnomAD v4
11g.128911916C>ACA383249469KCNJ5c.643C>A (p.Leu215Met)
11g.128911916C>GCA383249470KCNJ5c.643C>G (p.Leu215Val)
gnomAD v4
11g.128911916C>TCA477703793KCNJ5c.643C>T (p.Leu215=)
11g.128911917T>ACA383249473KCNJ5c.644T>A (p.Leu215Gln)
11g.128911917T>CCA383249475KCNJ5c.644T>C (p.Leu215Pro)
11g.128911917T>GCA383249476KCNJ5c.644T>G (p.Leu215Arg)
gnomAD v4
11g.128911918G>ACA6357910KCNJ5c.645G>A (p.Leu215=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911918G>CCA477703795KCNJ5c.645G>C (p.Leu215=)
11g.128911918G=CA2008292917KCNJ5c.645G= (p.Leu215=)
11g.128911918G>TCA477703797KCNJ5c.645G>T (p.Leu215=)
11g.128911919T>ACA383249481KCNJ5c.646T>A (p.Cys216Ser)
gnomAD v4
11g.128911919T>CCA383249482KCNJ5c.646T>C (p.Cys216Arg)
ClinVar
11g.128911919T>GCA383249484KCNJ5c.646T>G (p.Cys216Gly)
11g.128911920G>ACA383249489KCNJ5c.647G>A (p.Cys216Tyr)
11g.128911920G>CCA383249488KCNJ5c.647G>C (p.Cys216Ser)
11g.128911920G>TCA383249486KCNJ5c.647G>T (p.Cys216Phe)
11g.128911921C>ACA383249492KCNJ5c.648C>A (p.Cys216Ter)
11g.128911921C>GCA383249493KCNJ5c.648C>G (p.Cys216Trp)
11g.128911921C>TCA477703800KCNJ5c.648C>T (p.Cys216=)
11g.128911922C>ACA383249497KCNJ5c.649C>A (p.Leu217Ile)
11g.128911922C>GCA383249498KCNJ5c.649C>G (p.Leu217Val)
11g.128911922C>TCA383249500KCNJ5c.649C>T (p.Leu217Phe)
11g.128911923T>ACA383249503KCNJ5c.650T>A (p.Leu217His)
11g.128911923T>CCA383249505KCNJ5c.650T>C (p.Leu217Pro)
11g.128911923T>GCA383249508KCNJ5c.650T>G (p.Leu217Arg)
11g.128911924C>ACA477703803KCNJ5c.651C>A (p.Leu217=)
11g.128911924C>GCA477703807KCNJ5c.651C>G (p.Leu217=)
11g.128911924C>TCA477703805KCNJ5c.651C>T (p.Leu217=)
dbSNP
11g.128911925A>CCA383249510KCNJ5c.652A>C (p.Met218Leu)
gnomAD v4
11g.128911925A>GCA383249511KCNJ5c.652A>G (p.Met218Val)
11g.128911925A>TCA383249513KCNJ5c.652A>T (p.Met218Leu)
11g.128911926T>ACA383249516KCNJ5c.653T>A (p.Met218Lys)
11g.128911926T>CCA383249517KCNJ5c.653T>C (p.Met218Thr)
gnomAD v4
11g.128911926T>GCA383249519KCNJ5c.653T>G (p.Met218Arg)
11g.128911927G>ACA6357911KCNJ5c.654G>A (p.Met218Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911927G>CCA383249525KCNJ5c.654G>C (p.Met218Ile)
11g.128911927G=CA2008292924KCNJ5c.654G= (p.Met218=)
11g.128911927G>TCA383249522KCNJ5c.654G>T (p.Met218Ile)
11g.128911928T>ACA383249527KCNJ5c.655T>A (p.Phe219Ile)
11g.128911928T>CCA383249529KCNJ5c.655T>C (p.Phe219Leu)
dbSNP
11g.128911928T>GCA383249531KCNJ5c.655T>G (p.Phe219Val)
gnomAD v4
11g.128911929T>ACA383249532KCNJ5c.656T>A (p.Phe219Tyr)
11g.128911929T>CCA383249533KCNJ5c.656T>C (p.Phe219Ser)
11g.128911929T>GCA383249535KCNJ5c.656T>G (p.Phe219Cys)
11g.128911930C>ACA383249537KCNJ5c.657C>A (p.Phe219Leu)
11g.128911930C>GCA383249538KCNJ5c.657C>G (p.Phe219Leu)
11g.128911930C>TCA477703812KCNJ5c.657C>T (p.Phe219=)
COSMIC
11g.128911931C>ACA477703814KCNJ5c.658C>A (p.Arg220=)
11g.128911931C=CA2008292928KCNJ5c.658C= (p.Arg220=)
11g.128911931C>GCA383249541KCNJ5c.658C>G (p.Arg220Gly)
11g.128911931C>TCA339190KCNJ5c.658C>T (p.Arg220Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128911932G>ACA6357912KCNJ5c.659G>A (p.Arg220Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128911932G>CCA383249545KCNJ5c.659G>C (p.Arg220Pro)
11g.128911932G=CA2008292936KCNJ5c.659G= (p.Arg220=)
11g.128911932G>TCA383249547KCNJ5c.659G>T (p.Arg220Leu)
ClinVar dbSNP gnomAD v4
11g.128911933G>ACA477703816KCNJ5c.660G>A (p.Arg220=)
11g.128911933G>CCA477703819KCNJ5c.660G>C (p.Arg220=)
11g.128911933G>TCA477703820KCNJ5c.660G>T (p.Arg220=)
11g.128911934G>ACA383249553KCNJ5c.661G>A (p.Val221Met)
gnomAD v4
11g.128911934G>CCA383249549KCNJ5c.661G>C (p.Val221Leu)
dbSNP
11g.128911934G=CA2008292942KCNJ5c.661G= (p.Val221=)
11g.128911934G>TCA383249551KCNJ5c.661G>T (p.Val221Leu)
11g.128911935T>ACA383249556KCNJ5c.662T>A (p.Val221Glu)
11g.128911935T>CCA383249557KCNJ5c.662T>C (p.Val221Ala)
11g.128911935T>GCA383249559KCNJ5c.662T>G (p.Val221Gly)
11g.128911936G>ACA477703823KCNJ5c.663G>A (p.Val221=)
ClinVar dbSNP
11g.128911936G>CCA477703825KCNJ5c.663G>C (p.Val221=)
11g.128911936G=CA2008292944KCNJ5c.663G= (p.Val221=)
11g.128911936G>TCA477703828KCNJ5c.663G>T (p.Val221=)
11g.128911937G>ACA383249562KCNJ5c.664G>A (p.Gly222Ser)
gnomAD v4
11g.128911937G>CCA383249563KCNJ5c.664G>C (p.Gly222Arg)
11g.128911937G>TCA383249565KCNJ5c.664G>T (p.Gly222Cys)
11g.128911938G>ACA6357913KCNJ5c.665G>A (p.Gly222Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911938G>CCA383249568KCNJ5c.665G>C (p.Gly222Ala)
11g.128911938G=CA2008292951KCNJ5c.665G= (p.Gly222=)
11g.128911938G>TCA383249571KCNJ5c.665G>T (p.Gly222Val)
11g.128911939C>ACA6357914KCNJ5c.666C>A (p.Gly222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911939C=CA2008292957KCNJ5c.666C= (p.Gly222=)
11g.128911939C>GCA477703830KCNJ5c.666C>G (p.Gly222=)
11g.128911939C>TCA6357915KCNJ5c.666C>T (p.Gly222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911940G>ACA350635KCNJ5c.667G>A (p.Asp223Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911940G>CCA383249578KCNJ5c.667G>C (p.Asp223His)
11g.128911940G=CA2008292962KCNJ5c.667G= (p.Asp223=)
11g.128911940G>TCA383249576KCNJ5c.667G>T (p.Asp223Tyr)
11g.128911941A=CA2008292966KCNJ5c.668A= (p.Asp223=)
11g.128911941A>CCA383249581KCNJ5c.668A>C (p.Asp223Ala)
dbSNP
11g.128911941A>GCA383249584KCNJ5c.668A>G (p.Asp223Gly)
11g.128911941A>TCA383249582KCNJ5c.668A>T (p.Asp223Val)
11g.128911942C>ACA383249586KCNJ5c.669C>A (p.Asp223Glu)
11g.128911942C>GCA383249588KCNJ5c.669C>G (p.Asp223Glu)
11g.128911942C>TCA477703835KCNJ5c.669C>T (p.Asp223=)
11g.128911943C>ACA383249590KCNJ5c.670C>A (p.Leu224Ile)
gnomAD v4
11g.128911943C>GCA383249592KCNJ5c.670C>G (p.Leu224Val)
ClinVar
11g.128911943C>TCA383249593KCNJ5c.670C>T (p.Leu224Phe)
ClinVar dbSNP
11g.128911944T>ACA383249595KCNJ5c.671T>A (p.Leu224His)
11g.128911944T>CCA383249597KCNJ5c.671T>C (p.Leu224Pro)
11g.128911944T>GCA383249599KCNJ5c.671T>G (p.Leu224Arg)
11g.128911945C>ACA477703837KCNJ5c.672C>A (p.Leu224=)
11g.128911945C>GCA477703839KCNJ5c.672C>G (p.Leu224=)
11g.128911945C>TCA477703845KCNJ5c.672C>T (p.Leu224=)
11g.128911946C>ACA383249601KCNJ5c.673C>A (p.Arg225Ser)
11g.128911946C=CA2008292972KCNJ5c.673C= (p.Arg225=)
11g.128911946C>GCA383249603KCNJ5c.673C>G (p.Arg225Gly)
11g.128911946C>TCA6357916KCNJ5c.673C>T (p.Arg225Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911947G>ACA6357917KCNJ5c.674G>A (p.Arg225His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911947G>CCA383249606KCNJ5c.674G>C (p.Arg225Pro)
11g.128911947G=CA2008292977KCNJ5c.674G= (p.Arg225=)
11g.128911947G>TCA383249608KCNJ5c.674G>T (p.Arg225Leu)
11g.128911948C>ACA477703847KCNJ5c.675C>A (p.Arg225=)
11g.128911948C>GCA477703848KCNJ5c.675C>G (p.Arg225=)
11g.128911948C>TCA477703849KCNJ5c.675C>T (p.Arg225=)
11g.128911949A>CCA383249611KCNJ5c.676A>C (p.Asn226His)
11g.128911949A>GCA383249613KCNJ5c.676A>G (p.Asn226Asp)
11g.128911949A>TCA383249615KCNJ5c.676A>T (p.Asn226Tyr)
11g.128911950A>CCA383249617KCNJ5c.677A>C (p.Asn226Thr)
11g.128911950A>GCA383249619KCNJ5c.677A>G (p.Asn226Ser)
11g.128911950A>TCA383249621KCNJ5c.677A>T (p.Asn226Ile)
gnomAD v4
11g.128911951C>ACA383249623KCNJ5c.678C>A (p.Asn226Lys)
11g.128911951C>GCA383249624KCNJ5c.678C>G (p.Asn226Lys)
11g.128911951C>TCA477703854KCNJ5c.678C>T (p.Asn226=)
11g.128911952T>ACA383249628KCNJ5c.679T>A (p.Ser227Thr)
11g.128911952T>CCA383249629KCNJ5c.679T>C (p.Ser227Pro)
11g.128911952T>GCA383249630KCNJ5c.679T>G (p.Ser227Ala)
11g.128911953C>ACA383249635KCNJ5c.680C>A (p.Ser227Tyr)
11g.128911953C>GCA383249637KCNJ5c.680C>G (p.Ser227Cys)
gnomAD v4
11g.128911953C>TCA383249633KCNJ5c.680C>T (p.Ser227Phe)
11g.128911954C>ACA477703858KCNJ5c.681C>A (p.Ser227=)
11g.128911954C=CA2008292982KCNJ5c.681C= (p.Ser227=)
11g.128911954C>GCA477703861KCNJ5c.681C>G (p.Ser227=)
11g.128911954C>TCA230640536KCNJ5c.681C>T (p.Ser227=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128911955C>ACA383249641KCNJ5c.682C>A (p.His228Asn)
11g.128911955C>GCA383249642KCNJ5c.682C>G (p.His228Asp)
11g.128911955C>TCA383249644KCNJ5c.682C>T (p.His228Tyr)
11g.128911956A>CCA383249647KCNJ5c.683A>C (p.His228Pro)
11g.128911956A>GCA383249649KCNJ5c.683A>G (p.His228Arg)
11g.128911956A>TCA383249651KCNJ5c.683A>T (p.His228Leu)
11g.128911957C>ACA383249653KCNJ5c.684C>A (p.His228Gln)
11g.128911957C=CA2008292985KCNJ5c.684C= (p.His228=)
11g.128911957C>GCA383249654KCNJ5c.684C>G (p.His228Gln)
11g.128911957C>TCA477703863KCNJ5c.684C>T (p.His228=)
dbSNP gnomAD v2 gnomAD v4
11g.128911958A>CCA383249656KCNJ5c.685A>C (p.Ile229Leu)
11g.128911958A>GCA383249657KCNJ5c.685A>G (p.Ile229Val)
11g.128911958A>TCA383249660KCNJ5c.685A>T (p.Ile229Phe)
11g.128911959T>ACA383249663KCNJ5c.686T>A (p.Ile229Asn)
11g.128911959T>CCA383249665KCNJ5c.686T>C (p.Ile229Thr)
11g.128911959T>GCA383249662KCNJ5c.686T>G (p.Ile229Ser)
11g.128911960C>ACA477703867KCNJ5c.687C>A (p.Ile229=)
gnomAD v4
11g.128911960C=CA2008292991KCNJ5c.687C= (p.Ile229=)
11g.128911960C>GCA383249668KCNJ5c.687C>G (p.Ile229Met)
ClinVar dbSNP
11g.128911960C>TCA6357918KCNJ5c.687C>T (p.Ile229=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128911961G>ACA383249671KCNJ5c.688G>A (p.Val230Met)
dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.128911961G>CCA383249673KCNJ5c.688G>C (p.Val230Leu)
11g.128911961G=CA2008292994KCNJ5c.688G= (p.Val230=)
11g.128911961G>TCA383249674KCNJ5c.688G>T (p.Val230Leu)
dbSNP
11g.128911962T>ACA383249680KCNJ5c.689T>A (p.Val230Glu)
11g.128911962T>CCA383249678KCNJ5c.689T>C (p.Val230Ala)
11g.128911962T>GCA383249676KCNJ5c.689T>G (p.Val230Gly)
COSMIC
11g.128911963G>ACA477703870KCNJ5c.690G>A (p.Val230=)
11g.128911963G>CCA6357919KCNJ5c.690G>C (p.Val230=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911963G=CA2008293000KCNJ5c.690G= (p.Val230=)
11g.128911963G>TCA477703873KCNJ5c.690G>T (p.Val230=)
11g.128911964dupCA2616775471KCNJ5c.691dup (p.Glu231GlyfsTer?)
gnomAD v4
11g.128911964G>ACA383249685KCNJ5c.691G>A (p.Glu231Lys)
ClinVar
11g.128911964G>CCA6357920KCNJ5c.691G>C (p.Glu231Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911964G=CA2008293002KCNJ5c.691G= (p.Glu231=)
11g.128911964G>TCA383249687KCNJ5c.691G>T (p.Glu231Ter)
gnomAD v4
11g.128911965A>CCA383249689KCNJ5c.692A>C (p.Glu231Ala)
11g.128911965A>GCA383249691KCNJ5c.692A>G (p.Glu231Gly)
11g.128911965A>TCA383249694KCNJ5c.692A>T (p.Glu231Val)
11g.128911966G>ACA477703877KCNJ5c.693G>A (p.Glu231=)
11g.128911966G>CCA383249698KCNJ5c.693G>C (p.Glu231Asp)
11g.128911966G>TCA383249696KCNJ5c.693G>T (p.Glu231Asp)
11g.128911967G>ACA383249701KCNJ5c.694G>A (p.Ala232Thr)
11g.128911967G>CCA383249705KCNJ5c.694G>C (p.Ala232Pro)
11g.128911967G>TCA383249703KCNJ5c.694G>T (p.Ala232Ser)
gnomAD v4
11g.128911968C>ACA383249707KCNJ5c.695C>A (p.Ala232Asp)
11g.128911968C>GCA383249711KCNJ5c.695C>G (p.Ala232Gly)
11g.128911968C>TCA383249709KCNJ5c.695C>T (p.Ala232Val)
11g.128911969C>ACA477703880KCNJ5c.696C>A (p.Ala232=)
11g.128911969C>GCA477703881KCNJ5c.696C>G (p.Ala232=)
11g.128911969C>TCA477703882KCNJ5c.696C>T (p.Ala232=)
gnomAD v4
11g.128911970T>ACA383249714KCNJ5c.697T>A (p.Ser233Thr)
11g.128911970T>CCA383249717KCNJ5c.697T>C (p.Ser233Pro)
11g.128911970T>GCA383249716KCNJ5c.697T>G (p.Ser233Ala)
11g.128911971C>ACA383249720KCNJ5c.698C>A (p.Ser233Tyr)
11g.128911971C>GCA383249724KCNJ5c.698C>G (p.Ser233Cys)
11g.128911971C>TCA383249722KCNJ5c.698C>T (p.Ser233Phe)
11g.128911972C>ACA477703889KCNJ5c.699C>A (p.Ser233=)
11g.128911972C=CA2008293004KCNJ5c.699C= (p.Ser233=)
11g.128911972C>GCA477703890KCNJ5c.699C>G (p.Ser233=)
gnomAD v4
11g.128911972C>TCA477703891KCNJ5c.699C>T (p.Ser233=)
dbSNP gnomAD v4
11g.128911973A>CCA383249726KCNJ5c.700A>C (p.Ile234Leu)
gnomAD v4
11g.128911973A>GCA383249727KCNJ5c.700A>G (p.Ile234Val)
gnomAD v4
11g.128911973A>TCA383249729KCNJ5c.700A>T (p.Ile234Phe)
11g.128911974T>ACA383249731KCNJ5c.701T>A (p.Ile234Asn)
11g.128911974T>CCA383249733KCNJ5c.701T>C (p.Ile234Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128911974T>GCA383249735KCNJ5c.701T>G (p.Ile234Ser)
11g.128911974T=CA2008293006KCNJ5c.701T= (p.Ile234=)
11g.128911975C>ACA477703893KCNJ5c.702C>A (p.Ile234=)
11g.128911975C>GCA383249736KCNJ5c.702C>G (p.Ile234Met)
11g.128911975C>TCA477703892KCNJ5c.702C>T (p.Ile234=)
11g.128911976C>ACA477703894KCNJ5c.703C>A (p.Arg235=)
11g.128911976C=CA2008293011KCNJ5c.703C= (p.Arg235=)
11g.128911976C>GCA383249737KCNJ5c.703C>G (p.Arg235Gly)
11g.128911976C>TCA302097KCNJ5c.703C>T (p.Arg235Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128911977G>ACA383249743KCNJ5c.704G>A (p.Arg235Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128911977G>CCA383249742KCNJ5c.704G>C (p.Arg235Pro)
gnomAD v4
11g.128911977G=CA2008293018KCNJ5c.704G= (p.Arg235=)
11g.128911977G>TCA383249739KCNJ5c.704G>T (p.Arg235Leu)
COSMIC
11g.128911978G>ACA477703980KCNJ5c.705G>A (p.Arg235=)
gnomAD v4
11g.128911978G>CCA477703979KCNJ5c.705G>C (p.Arg235=)
11g.128911978G>TCA477703978KCNJ5c.705G>T (p.Arg235=)
11g.128911979G>ACA383249745KCNJ5c.706G>A (p.Ala236Thr)
11g.128911979G>CCA383249747KCNJ5c.706G>C (p.Ala236Pro)
11g.128911979G>TCA383249749KCNJ5c.706G>T (p.Ala236Ser)
11g.128911979_128911980delinsGCCA2008293022KCNJ5c.706_707delinsGC (p.Ala236=)
11g.128911980C>ACA383249751KCNJ5c.707C>A (p.Ala236Asp)
11g.128911980C>GCA383249753KCNJ5c.707C>G (p.Ala236Gly)
11g.128911980C>TCA383249755KCNJ5c.707C>T (p.Ala236Val)
11g.128911981delCA602585859KCNJ5c.708del (p.Lys237SerfsTer16)
dbSNP gnomAD v2 gnomAD v4
11g.128911981C>ACA477703981KCNJ5c.708C>A (p.Ala236=)
11g.128911981C=CA2008293029KCNJ5c.708C= (p.Ala236=)
11g.128911981C>GCA6357921KCNJ5c.708C>G (p.Ala236=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911981C>TCA477703983KCNJ5c.708C>T (p.Ala236=)
COSMIC
11g.128911982A>CCA383249759KCNJ5c.709A>C (p.Lys237Gln)
11g.128911982A>GCA383249760KCNJ5c.709A>G (p.Lys237Glu)
gnomAD v4
11g.128911982A>TCA383249763KCNJ5c.709A>T (p.Lys237Ter)
11g.128911983A>CCA383249766KCNJ5c.710A>C (p.Lys237Thr)
11g.128911983A>GCA383249768KCNJ5c.710A>G (p.Lys237Arg)
11g.128911983A>TCA383249765KCNJ5c.710A>T (p.Lys237Met)
11g.128911984G>ACA477703984KCNJ5c.711G>A (p.Lys237=)
dbSNP gnomAD v3 gnomAD v4
11g.128911984G>CCA383249769KCNJ5c.711G>C (p.Lys237Asn)
11g.128911984G>TCA383249770KCNJ5c.711G>T (p.Lys237Asn)
11g.128911985C>ACA383249772KCNJ5c.712C>A (p.Leu238Ile)
11g.128911985C>GCA383249773KCNJ5c.712C>G (p.Leu238Val)
11g.128911985C>TCA383249775KCNJ5c.712C>T (p.Leu238Phe)
11g.128911986T>ACA383249778KCNJ5c.713T>A (p.Leu238His)
11g.128911986T>CCA383249779KCNJ5c.713T>C (p.Leu238Pro)
11g.128911986T>GCA383249781KCNJ5c.713T>G (p.Leu238Arg)
11g.128911987C>ACA477703988KCNJ5c.714C>A (p.Leu238=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128911987C=CA2008293033KCNJ5c.714C= (p.Leu238=)
11g.128911987C>GCA477703989KCNJ5c.714C>G (p.Leu238=)
11g.128911987C>TCA477703990KCNJ5c.714C>T (p.Leu238=)
dbSNP gnomAD v2 gnomAD v4
11g.128911988A>CCA383249783KCNJ5c.715A>C (p.Ile239Leu)
gnomAD v4
11g.128911988A>GCA383249785KCNJ5c.715A>G (p.Ile239Val)
11g.128911988A>TCA383249787KCNJ5c.715A>T (p.Ile239Phe)
gnomAD v4
11g.128911989T>ACA383249794KCNJ5c.716T>A (p.Ile239Asn)
11g.128911989T>CCA383249792KCNJ5c.716T>C (p.Ile239Thr)
11g.128911989T>GCA383249790KCNJ5c.716T>G (p.Ile239Ser)
11g.128911990C>ACA477703993KCNJ5c.717C>A (p.Ile239=)
11g.128911990C>GCA383249796KCNJ5c.717C>G (p.Ile239Met)
11g.128911990C>TCA477703995KCNJ5c.717C>T (p.Ile239=)
COSMIC
11g.128911991A=CA2008293040KCNJ5c.718A= (p.Lys240=)
11g.128911991A>CCA383249798KCNJ5c.718A>C (p.Lys240Gln)
11g.128911991A>GCA383249800KCNJ5c.718A>G (p.Lys240Glu)
dbSNP gnomAD v3 gnomAD v4
11g.128911991A>TCA383249802KCNJ5c.718A>T (p.Lys240Ter)
11g.128911992A>CCA383249805KCNJ5c.719A>C (p.Lys240Thr)
11g.128911992A>GCA383249807KCNJ5c.719A>G (p.Lys240Arg)
11g.128911992A>TCA383249809KCNJ5c.719A>T (p.Lys240Met)
11g.128911993G>ACA6357922KCNJ5c.720G>A (p.Lys240=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911993G>CCA383249812KCNJ5c.720G>C (p.Lys240Asn)
11g.128911993G=CA2008293044KCNJ5c.720G= (p.Lys240=)
11g.128911993G>TCA383249814KCNJ5c.720G>T (p.Lys240Asn)
11g.128911994T>ACA383249816KCNJ5c.721T>A (p.Ser241Thr)
11g.128911994T>CCA383249818KCNJ5c.721T>C (p.Ser241Pro)
11g.128911994T>GCA383249820KCNJ5c.721T>G (p.Ser241Ala)
11g.128911995C>ACA383249824KCNJ5c.722C>A (p.Ser241Tyr)
11g.128911995C>GCA383249826KCNJ5c.722C>G (p.Ser241Cys)
11g.128911995C>TCA383249822KCNJ5c.722C>T (p.Ser241Phe)
gnomAD v4
11g.128911996C>ACA6357923KCNJ5c.723C>A (p.Ser241=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911996C=CA2008293047KCNJ5c.723C= (p.Ser241=)
11g.128911996C>GCA477704000KCNJ5c.723C>G (p.Ser241=)
11g.128911996C>TCA477703999KCNJ5c.723C>T (p.Ser241=)
11g.128911997C>ACA477704001KCNJ5c.724C>A (p.Arg242=)
11g.128911997C=CA2008293056KCNJ5c.724C= (p.Arg242=)
11g.128911997C>GCA383249830KCNJ5c.724C>G (p.Arg242Gly)
11g.128911997C>TCA6357924KCNJ5c.724C>T (p.Arg242Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911998G>ACA6357925KCNJ5c.725G>A (p.Arg242Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128911998G>CCA383249833KCNJ5c.725G>C (p.Arg242Pro)
gnomAD v4
11g.128911998G=CA2008293065KCNJ5c.725G= (p.Arg242=)
11g.128911998G>TCA383249835KCNJ5c.725G>T (p.Arg242Leu)
11g.128911999G>ACA477704002KCNJ5c.726G>A (p.Arg242=)
dbSNP
11g.128911999G>CCA477704003KCNJ5c.726G>C (p.Arg242=)
11g.128911999G>TCA477704005KCNJ5c.726G>T (p.Arg242=)
11g.128912000C>ACA383249841KCNJ5c.727C>A (p.Gln243Lys)
gnomAD v4
11g.128912000C>GCA383249838KCNJ5c.727C>G (p.Gln243Glu)
11g.128912000C>TCA383249839KCNJ5c.727C>T (p.Gln243Ter)
ClinVar
11g.128912001A>CCA383249844KCNJ5c.728A>C (p.Gln243Pro)
gnomAD v4
11g.128912001A>GCA383249845KCNJ5c.728A>G (p.Gln243Arg)
11g.128912001A>TCA383249847KCNJ5c.728A>T (p.Gln243Leu)
11g.128912002G>ACA477704008KCNJ5c.729G>A (p.Gln243=)
COSMIC
11g.128912002G>CCA383249852KCNJ5c.729G>C (p.Gln243His)
11g.128912002G>TCA383249853KCNJ5c.729G>T (p.Gln243His)
11g.128912003A>CCA383249856KCNJ5c.730A>C (p.Thr244Pro)
11g.128912003A>GCA383249859KCNJ5c.730A>G (p.Thr244Ala)
11g.128912003A>TCA383249857KCNJ5c.730A>T (p.Thr244Ser)
11g.128912004C>ACA383249860KCNJ5c.731C>A (p.Thr244Asn)
11g.128912004C>GCA383249862KCNJ5c.731C>G (p.Thr244Ser)
11g.128912004C>TCA383249864KCNJ5c.731C>T (p.Thr244Ile)
11g.128912005C>ACA477704011KCNJ5c.732C>A (p.Thr244=)
11g.128912005C=CA2008293069KCNJ5c.732C= (p.Thr244=)
11g.128912005C>GCA477704014KCNJ5c.732C>G (p.Thr244=)
11g.128912005C>TCA6357926KCNJ5c.732C>T (p.Thr244=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912006A>CCA383249868KCNJ5c.733A>C (p.Lys245Gln)
11g.128912006A>GCA383249871KCNJ5c.733A>G (p.Lys245Glu)
11g.128912006A>TCA383249873KCNJ5c.733A>T (p.Lys245Ter)
11g.128912007A>CCA383249875KCNJ5c.734A>C (p.Lys245Thr)
11g.128912007A>GCA383249877KCNJ5c.734A>G (p.Lys245Arg)
gnomAD v4
11g.128912007A>TCA383249880KCNJ5c.734A>T (p.Lys245Ile)
11g.128912008A>CCA383249881KCNJ5c.735A>C (p.Lys245Asn)
11g.128912008A>GCA477704015KCNJ5c.735A>G (p.Lys245=)
11g.128912008A>TCA383249883KCNJ5c.735A>T (p.Lys245Asn)
11g.128912010_128912011delCA2739271799KCNJ5c.737_738del (p.Glu246GlyfsTer16)
ClinVar
11g.128912009G>ACA163136KCNJ5c.736G>A (p.Glu246Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128912009G>CCA383249888KCNJ5c.736G>C (p.Glu246Gln)
11g.128912009G=CA2008293075KCNJ5c.736G= (p.Glu246=)
11g.128912009G>TCA383249885KCNJ5c.736G>T (p.Glu246Ter)
11g.128912010A>CCA383249890KCNJ5c.737A>C (p.Glu246Ala)
11g.128912010A>GCA383249891KCNJ5c.737A>G (p.Glu246Gly)
COSMIC
11g.128912010A>TCA383249893KCNJ5c.737A>T (p.Glu246Val)
11g.128912011G>ACA6357927KCNJ5c.738G>A (p.Glu246=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912011G>CCA230640550KCNJ5c.738G>C (p.Glu246Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128912011G=CA2008293084KCNJ5c.738G= (p.Glu246=)
11g.128912011G>TCA383249896KCNJ5c.738G>T (p.Glu246Asp)
dbSNP gnomAD v4
11g.128912012G>ACA232429KCNJ5c.739G>A (p.Gly247Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912012G>CCA383249900KCNJ5c.739G>C (p.Gly247Arg)
11g.128912012G=CA2008293090KCNJ5c.739G= (p.Gly247=)
11g.128912012G>TCA383249901KCNJ5c.739G>T (p.Gly247Trp)
11g.128912013G>ACA383249904KCNJ5c.740G>A (p.Gly247Glu)
COSMIC
11g.128912013G>CCA383249906KCNJ5c.740G>C (p.Gly247Ala)
11g.128912013G>TCA383249909KCNJ5c.740G>T (p.Gly247Val)
COSMIC
11g.128912014G>ACA477704022KCNJ5c.741G>A (p.Gly247=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128912014G>CCA6357928KCNJ5c.741G>C (p.Gly247=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912014G=CA2008293095KCNJ5c.741G= (p.Gly247=)
11g.128912014G>TCA477704023KCNJ5c.741G>T (p.Gly247=)
11g.128912015G>ACA383249922KCNJ5c.742G>A (p.Glu248Lys)
11g.128912015G>CCA383249916KCNJ5c.742G>C (p.Glu248Gln)
11g.128912015G>TCA383249918KCNJ5c.742G>T (p.Glu248Ter)

Number of alleles fetched