Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128840002_128840004delinsAAGCA2825002003KCNJ1c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe)
c.297_299delinsCTT (p.Trp99_Tyr100delinsCysPhe)
c.291_293delinsCTT (p.Trp97_Tyr98delinsCysPhe)
 ClinVar
11g.128840003A>CCA383246535KCNJ1c.241T>G (p.Tyr81Asp)
c.298T>G (p.Tyr100Asp)
c.292T>G (p.Tyr98Asp)
11g.128840003A>GCA383246538KCNJ1c.241T>C (p.Tyr81His)
c.298T>C (p.Tyr100His)
c.292T>C (p.Tyr98His)
 ClinVar
11g.128840003A>TCA383246540KCNJ1c.241T>A (p.Tyr81Asn)
c.298T>A (p.Tyr100Asn)
c.292T>A (p.Tyr98Asn)
11g.128840004C>ACA383246548KCNJ1c.240G>T (p.Trp80Cys)
c.297G>T (p.Trp99Cys)
c.291G>T (p.Trp97Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840004C=CA2008251552KCNJ1c.240G= (p.Trp80=)
c.297G= (p.Trp99=)
c.291G= (p.Trp97=)
11g.128840004C>GCA383246546KCNJ1c.240G>C (p.Trp80Cys)
c.297G>C (p.Trp99Cys)
c.291G>C (p.Trp97Cys)
11g.128840004C>TCA383246545KCNJ1c.240G>A (p.Trp80Ter)
c.297G>A (p.Trp99Ter)
c.291G>A (p.Trp97Ter)
 ClinVar gnomAD v4
11g.128840005C>ACA383246552KCNJ1c.239G>T (p.Trp80Leu)
c.296G>T (p.Trp99Leu)
c.290G>T (p.Trp97Leu)
11g.128840005C=CA2008251557KCNJ1c.239G= (p.Trp80=)
c.296G= (p.Trp99=)
c.290G= (p.Trp97=)
11g.128840005C>GCA383246551KCNJ1c.239G>C (p.Trp80Ser)
c.296G>C (p.Trp99Ser)
c.290G>C (p.Trp97Ser)
11g.128840005C>TCA230628976KCNJ1c.239G>A (p.Trp80Ter)
c.296G>A (p.Trp99Ter)
c.290G>A (p.Trp97Ter)
 dbSNP gnomAD v4
11g.128840006A=CA2008251560KCNJ1c.238T= (p.Trp80=)
c.295T= (p.Trp99=)
c.289T= (p.Trp97=)
11g.128840006A>CCA383246558KCNJ1c.238T>G (p.Trp80Gly)
c.295T>G (p.Trp99Gly)
c.289T>G (p.Trp97Gly)
11g.128840006A>GCA6357551KCNJ1c.238T>C (p.Trp80Arg)
c.295T>C (p.Trp99Arg)
c.289T>C (p.Trp97Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840006A>TCA383246562KCNJ1c.238T>A (p.Trp80Arg)
c.295T>A (p.Trp99Arg)
c.289T>A (p.Trp97Arg)
11g.128840007C>ACA477703165KCNJ1c.237G>T (p.Leu79=)
c.294G>T (p.Leu98=)
c.288G>T (p.Leu96=)
 gnomAD v4
11g.128840007C>GCA477703166KCNJ1c.237G>C (p.Leu79=)
c.294G>C (p.Leu98=)
c.288G>C (p.Leu96=)
11g.128840007C>TCA477703167KCNJ1c.237G>A (p.Leu79=)
c.294G>A (p.Leu98=)
c.288G>A (p.Leu96=)
11g.128840008A>CCA383246566KCNJ1c.236T>G (p.Leu79Arg)
c.293T>G (p.Leu98Arg)
c.287T>G (p.Leu96Arg)
11g.128840008A>GCA383246569KCNJ1c.236T>C (p.Leu79Pro)
c.293T>C (p.Leu98Pro)
c.287T>C (p.Leu96Pro)
11g.128840008A>TCA383246572KCNJ1c.236T>A (p.Leu79Gln)
c.293T>A (p.Leu98Gln)
c.287T>A (p.Leu96Gln)
11g.128840009G>ACA477703168KCNJ1c.235C>T (p.Leu79=)
c.292C>T (p.Leu98=)
c.286C>T (p.Leu96=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840009G>CCA383246578KCNJ1c.235C>G (p.Leu79Val)
c.292C>G (p.Leu98Val)
c.286C>G (p.Leu96Val)
11g.128840009G=CA2008251564KCNJ1c.235C= (p.Leu79=)
c.292C= (p.Leu98=)
c.286C= (p.Leu96=)
11g.128840009G>TCA383246575KCNJ1c.235C>A (p.Leu79Met)
c.292C>A (p.Leu98Met)
c.286C>A (p.Leu96Met)
11g.128840010G>ACA477703171KCNJ1c.234C>T (p.Leu78=)
c.291C>T (p.Leu97=)
c.285C>T (p.Leu95=)
 COSMIC
11g.128840010G>CCA477703172KCNJ1c.234C>G (p.Leu78=)
c.291C>G (p.Leu97=)
c.285C>G (p.Leu95=)
11g.128840010G>TCA477703169KCNJ1c.234C>A (p.Leu78=)
c.291C>A (p.Leu97=)
c.285C>A (p.Leu95=)
11g.128840011A>CCA383246581KCNJ1c.233T>G (p.Leu78Arg)
c.290T>G (p.Leu97Arg)
c.284T>G (p.Leu95Arg)
11g.128840011A>GCA383246584KCNJ1c.233T>C (p.Leu78Pro)
c.290T>C (p.Leu97Pro)
c.284T>C (p.Leu95Pro)
11g.128840011A>TCA383246586KCNJ1c.233T>A (p.Leu78His)
c.290T>A (p.Leu97His)
c.284T>A (p.Leu95His)
11g.128840012G>ACA383246589KCNJ1c.232C>T (p.Leu78Phe)
c.289C>T (p.Leu97Phe)
c.283C>T (p.Leu95Phe)
 gnomAD v4
11g.128840012G>CCA383246591KCNJ1c.232C>G (p.Leu78Val)
c.289C>G (p.Leu97Val)
c.283C>G (p.Leu95Val)
 dbSNP
11g.128840012G=CA2008251567KCNJ1c.232C= (p.Leu78=)
c.289C= (p.Leu97=)
c.283C= (p.Leu95=)
11g.128840012G>TCA383246593KCNJ1c.232C>A (p.Leu78Ile)
c.289C>A (p.Leu97Ile)
c.283C>A (p.Leu95Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.128840013A>CCA477703179KCNJ1c.231T>G (p.Gly77=)
c.288T>G (p.Gly96=)
c.282T>G (p.Gly94=)
11g.128840013A>GCA477703177KCNJ1c.231T>C (p.Gly77=)
c.288T>C (p.Gly96=)
c.282T>C (p.Gly94=)
11g.128840013A>TCA477703178KCNJ1c.231T>A (p.Gly77=)
c.288T>A (p.Gly96=)
c.282T>A (p.Gly94=)
 gnomAD v4
11g.128840014C>ACA383246597KCNJ1c.230G>T (p.Gly77Val)
c.287G>T (p.Gly96Val)
c.281G>T (p.Gly94Val)
11g.128840014C=CA2008251577KCNJ1c.230G= (p.Gly77=)
c.287G= (p.Gly96=)
c.281G= (p.Gly94=)
11g.128840014C>GCA383246602KCNJ1c.230G>C (p.Gly77Ala)
c.287G>C (p.Gly96Ala)
c.281G>C (p.Gly94Ala)
11g.128840014C>TCA383246599KCNJ1c.230G>A (p.Gly77Asp)
c.287G>A (p.Gly96Asp)
c.281G>A (p.Gly94Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.128840015C>ACA383246605KCNJ1c.229G>T (p.Gly77Cys)
c.286G>T (p.Gly96Cys)
c.280G>T (p.Gly94Cys)
11g.128840015C>GCA383246612KCNJ1c.229G>C (p.Gly77Arg)
c.286G>C (p.Gly96Arg)
c.280G>C (p.Gly94Arg)
11g.128840015C>TCA383246616KCNJ1c.229G>A (p.Gly77Ser)
c.286G>A (p.Gly96Ser)
c.280G>A (p.Gly94Ser)
11g.128840016A>CCA383246619KCNJ1c.228T>G (p.Phe76Leu)
c.285T>G (p.Phe95Leu)
c.279T>G (p.Phe93Leu)
11g.128840016A>GCA477703183KCNJ1c.228T>C (p.Phe76=)
c.285T>C (p.Phe95=)
c.279T>C (p.Phe93=)
11g.128840016A>TCA383246622KCNJ1c.228T>A (p.Phe76Leu)
c.285T>A (p.Phe95Leu)
c.279T>A (p.Phe93Leu)
11g.128840017A>CCA383246625KCNJ1c.227T>G (p.Phe76Cys)
c.284T>G (p.Phe95Cys)
c.278T>G (p.Phe93Cys)
11g.128840017A>GCA383246628KCNJ1c.227T>C (p.Phe76Ser)
c.284T>C (p.Phe95Ser)
c.278T>C (p.Phe93Ser)
 gnomAD v4
11g.128840017A>TCA383246630KCNJ1c.227T>A (p.Phe76Tyr)
c.284T>A (p.Phe95Tyr)
c.278T>A (p.Phe93Tyr)
11g.128840018A=CA2008251580KCNJ1c.226T= (p.Phe76=)
c.283T= (p.Phe95=)
c.277T= (p.Phe93=)
11g.128840018A>CCA383246634KCNJ1c.226T>G (p.Phe76Val)
c.283T>G (p.Phe95Val)
c.277T>G (p.Phe93Val)
 dbSNP gnomAD v3 gnomAD v4
11g.128840018A>GCA383246637KCNJ1c.226T>C (p.Phe76Leu)
c.283T>C (p.Phe95Leu)
c.277T>C (p.Phe93Leu)
11g.128840018A>TCA383246639KCNJ1c.226T>A (p.Phe76Ile)
c.283T>A (p.Phe95Ile)
c.277T>A (p.Phe93Ile)
11g.128840019G>ACA477703187KCNJ1c.225C>T (p.Phe75=)
c.282C>T (p.Phe94=)
c.276C>T (p.Phe92=)
 ClinVar
11g.128840019G>CCA383246641KCNJ1c.225C>G (p.Phe75Leu)
c.282C>G (p.Phe94Leu)
c.276C>G (p.Phe92Leu)
11g.128840019G>TCA383246644KCNJ1c.225C>A (p.Phe75Leu)
c.282C>A (p.Phe94Leu)
c.276C>A (p.Phe92Leu)
11g.128840020A=CA2008251583KCNJ1c.224T= (p.Phe75=)
c.281T= (p.Phe94=)
c.275T= (p.Phe92=)
11g.128840020A>CCA383246648KCNJ1c.224T>G (p.Phe75Cys)
c.281T>G (p.Phe94Cys)
c.275T>G (p.Phe92Cys)
11g.128840020A>GCA230629000KCNJ1c.224T>C (p.Phe75Ser)
c.281T>C (p.Phe94Ser)
c.275T>C (p.Phe92Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.128840020A>TCA383246651KCNJ1c.224T>A (p.Phe75Tyr)
c.281T>A (p.Phe94Tyr)
c.275T>A (p.Phe92Tyr)
11g.128840021A>CCA383246654KCNJ1c.223T>G (p.Phe75Val)
c.280T>G (p.Phe94Val)
c.274T>G (p.Phe92Val)
11g.128840021A>GCA383246656KCNJ1c.223T>C (p.Phe75Leu)
c.280T>C (p.Phe94Leu)
c.274T>C (p.Phe92Leu)
11g.128840021A>TCA383246657KCNJ1c.223T>A (p.Phe75Ile)
c.280T>A (p.Phe94Ile)
c.274T>A (p.Phe92Ile)
11g.128840022A>CCA383246661KCNJ1c.222T>G (p.Phe74Leu)
c.279T>G (p.Phe93Leu)
c.273T>G (p.Phe91Leu)
11g.128840022A>GCA477703190KCNJ1c.222T>C (p.Phe74=)
c.279T>C (p.Phe93=)
c.273T>C (p.Phe91=)
11g.128840022A>TCA383246659KCNJ1c.222T>A (p.Phe74Leu)
c.279T>A (p.Phe93Leu)
c.273T>A (p.Phe91Leu)
11g.128840023A=CA2008251588KCNJ1c.221T= (p.Phe74=)
c.278T= (p.Phe93=)
c.272T= (p.Phe91=)
11g.128840023A>CCA383246663KCNJ1c.221T>G (p.Phe74Cys)
c.278T>G (p.Phe93Cys)
c.272T>G (p.Phe91Cys)
11g.128840023A>GCA383246665KCNJ1c.221T>C (p.Phe74Ser)
c.278T>C (p.Phe93Ser)
c.272T>C (p.Phe91Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.128840023A>TCA383246666KCNJ1c.221T>A (p.Phe74Tyr)
c.278T>A (p.Phe93Tyr)
c.272T>A (p.Phe91Tyr)
11g.128840024A=CA2008251593KCNJ1c.220T= (p.Phe74=)
c.277T= (p.Phe93=)
c.271T= (p.Phe91=)
11g.128840024A>CCA6357552KCNJ1c.220T>G (p.Phe74Val)
c.277T>G (p.Phe93Val)
c.271T>G (p.Phe91Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840024A>GCA383246670KCNJ1c.220T>C (p.Phe74Leu)
c.277T>C (p.Phe93Leu)
c.271T>C (p.Phe91Leu)
11g.128840024A>TCA383246672KCNJ1c.220T>A (p.Phe74Ile)
c.277T>A (p.Phe93Ile)
c.271T>A (p.Phe91Ile)
11g.128840025C>ACA383246675KCNJ1c.219G>T (p.Trp73Cys)
c.276G>T (p.Trp92Cys)
c.270G>T (p.Trp90Cys)
11g.128840025C=CA2008251598KCNJ1c.219G= (p.Trp73=)
c.276G= (p.Trp92=)
c.270G= (p.Trp90=)
11g.128840025C>GCA383246679KCNJ1c.219G>C (p.Trp73Cys)
c.276G>C (p.Trp92Cys)
c.270G>C (p.Trp90Cys)
11g.128840025C>TCA383246677KCNJ1c.219G>A (p.Trp73Ter)
c.276G>A (p.Trp92Ter)
c.270G>A (p.Trp90Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.128840026C>ACA383246681KCNJ1c.218G>T (p.Trp73Leu)
c.275G>T (p.Trp92Leu)
c.269G>T (p.Trp90Leu)
11g.128840026C>GCA383246683KCNJ1c.218G>C (p.Trp73Ser)
c.275G>C (p.Trp92Ser)
c.269G>C (p.Trp90Ser)
11g.128840026C>TCA383246685KCNJ1c.218G>A (p.Trp73Ter)
c.275G>A (p.Trp92Ter)
c.269G>A (p.Trp90Ter)
 gnomAD v4
11g.128840027A>CCA383246687KCNJ1c.217T>G (p.Trp73Gly)
c.274T>G (p.Trp92Gly)
c.268T>G (p.Trp90Gly)
11g.128840027A>GCA383246689KCNJ1c.217T>C (p.Trp73Arg)
c.274T>C (p.Trp92Arg)
c.268T>C (p.Trp90Arg)
11g.128840027A>TCA383246691KCNJ1c.217T>A (p.Trp73Arg)
c.274T>A (p.Trp92Arg)
c.268T>A (p.Trp90Arg)
11g.128840028A>CCA383246693KCNJ1c.216T>G (p.Ser72Arg)
c.273T>G (p.Ser91Arg)
c.267T>G (p.Ser89Arg)
11g.128840028A>GCA477703200KCNJ1c.216T>C (p.Ser72=)
c.273T>C (p.Ser91=)
c.267T>C (p.Ser89=)
 gnomAD v4
11g.128840028A>TCA383246695KCNJ1c.216T>A (p.Ser72Arg)
c.273T>A (p.Ser91Arg)
c.267T>A (p.Ser89Arg)
11g.128840029C>ACA383246697KCNJ1c.215G>T (p.Ser72Ile)
c.272G>T (p.Ser91Ile)
c.266G>T (p.Ser89Ile)
11g.128840029C=CA2008251600KCNJ1c.215G= (p.Ser72=)
c.272G= (p.Ser91=)
c.266G= (p.Ser89=)
11g.128840029C>GCA230629005KCNJ1c.215G>C (p.Ser72Thr)
c.272G>C (p.Ser91Thr)
c.266G>C (p.Ser89Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840029C>TCA383246699KCNJ1c.215G>A (p.Ser72Asn)
c.272G>A (p.Ser91Asn)
c.266G>A (p.Ser89Asn)
11g.128840030T>ACA383246705KCNJ1c.214A>T (p.Ser72Cys)
c.271A>T (p.Ser91Cys)
c.265A>T (p.Ser89Cys)
11g.128840030T>CCA383246702KCNJ1c.214A>G (p.Ser72Gly)
c.271A>G (p.Ser91Gly)
c.265A>G (p.Ser89Gly)
11g.128840030T>GCA383246701KCNJ1c.214A>C (p.Ser72Arg)
c.271A>C (p.Ser91Arg)
c.265A>C (p.Ser89Arg)
11g.128840031C>ACA477703206KCNJ1c.213G>T (p.Gly71=)
c.270G>T (p.Gly90=)
c.264G>T (p.Gly88=)
11g.128840031C>GCA477703208KCNJ1c.213G>C (p.Gly71=)
c.270G>C (p.Gly90=)
c.264G>C (p.Gly88=)
11g.128840031C>TCA477703207KCNJ1c.213G>A (p.Gly71=)
c.270G>A (p.Gly90=)
c.264G>A (p.Gly88=)
11g.128840034delCA2695215889KCNJ1c.213del (p.Ser72ValfsTer12)
c.270del (p.Ser91ValfsTer12)
c.264del (p.Ser89ValfsTer12)
11g.128840032C>ACA383246707KCNJ1c.212G>T (p.Gly71Val)
c.269G>T (p.Gly90Val)
c.263G>T (p.Gly88Val)
11g.128840032C>GCA383246709KCNJ1c.212G>C (p.Gly71Ala)
c.269G>C (p.Gly90Ala)
c.263G>C (p.Gly88Ala)
11g.128840032C>TCA383246710KCNJ1c.212G>A (p.Gly71Glu)
c.269G>A (p.Gly90Glu)
c.263G>A (p.Gly88Glu)
 gnomAD v4
11g.128840033C>ACA383246713KCNJ1c.211G>T (p.Gly71Trp)
c.268G>T (p.Gly90Trp)
c.262G>T (p.Gly88Trp)
 ClinVar gnomAD v4
11g.128840033C=CA2008251604KCNJ1c.211G= (p.Gly71=)
c.268G= (p.Gly90=)
c.262G= (p.Gly88=)
11g.128840033C>GCA383246715KCNJ1c.211G>C (p.Gly71Arg)
c.268G>C (p.Gly90Arg)
c.262G>C (p.Gly88Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.128840033C>TCA383246716KCNJ1c.211G>A (p.Gly71Arg)
c.268G>A (p.Gly90Arg)
c.262G>A (p.Gly88Arg)
11g.128840034C>ACA383246720KCNJ1c.210G>T (p.Leu70Phe)
c.267G>T (p.Leu89Phe)
c.261G>T (p.Leu87Phe)
11g.128840034C>GCA383246721KCNJ1c.210G>C (p.Leu70Phe)
c.267G>C (p.Leu89Phe)
c.261G>C (p.Leu87Phe)
11g.128840034C>TCA477703215KCNJ1c.210G>A (p.Leu70=)
c.267G>A (p.Leu89=)
c.261G>A (p.Leu87=)
 ClinVar gnomAD v4
11g.128840035A>CCA383246724KCNJ1c.209T>G (p.Leu70Trp)
c.266T>G (p.Leu89Trp)
c.260T>G (p.Leu87Trp)
11g.128840035A>GCA383246728KCNJ1c.209T>C (p.Leu70Ser)
c.266T>C (p.Leu89Ser)
c.260T>C (p.Leu87Ser)
11g.128840035A>TCA383246726KCNJ1c.209T>A (p.Leu70Ter)
c.266T>A (p.Leu89Ter)
c.260T>A (p.Leu87Ter)
11g.128840036A=CA2008251609KCNJ1c.208T= (p.Leu70=)
c.265T= (p.Leu89=)
c.259T= (p.Leu87=)
11g.128840036A>CCA383246730KCNJ1c.208T>G (p.Leu70Val)
c.265T>G (p.Leu89Val)
c.259T>G (p.Leu87Val)
11g.128840036A>GCA477703219KCNJ1c.208T>C (p.Leu70=)
c.265T>C (p.Leu89=)
c.259T>C (p.Leu87=)
 dbSNP gnomAD v4
11g.128840036A>TCA383246731KCNJ1c.208T>A (p.Leu70Met)
c.265T>A (p.Leu89Met)
c.259T>A (p.Leu87Met)
11g.128840037G>ACA477703220KCNJ1c.207C>T (p.Phe69=)
c.264C>T (p.Phe88=)
c.258C>T (p.Phe86=)
11g.128840037G>CCA383246734KCNJ1c.207C>G (p.Phe69Leu)
c.264C>G (p.Phe88Leu)
c.258C>G (p.Phe86Leu)
11g.128840037G>TCA383246736KCNJ1c.207C>A (p.Phe69Leu)
c.264C>A (p.Phe88Leu)
c.258C>A (p.Phe86Leu)
11g.128840038A=CA2008251615KCNJ1c.206T= (p.Phe69=)
c.263T= (p.Phe88=)
c.257T= (p.Phe86=)
11g.128840038A>CCA230629018KCNJ1c.206T>G (p.Phe69Cys)
c.263T>G (p.Phe88Cys)
c.257T>G (p.Phe86Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840038A>GCA383246739KCNJ1c.206T>C (p.Phe69Ser)
c.263T>C (p.Phe88Ser)
c.257T>C (p.Phe86Ser)
11g.128840038A>TCA383246741KCNJ1c.206T>A (p.Phe69Tyr)
c.263T>A (p.Phe88Tyr)
c.257T>A (p.Phe86Tyr)
11g.128840039A>CCA383246745KCNJ1c.205T>G (p.Phe69Val)
c.262T>G (p.Phe88Val)
c.256T>G (p.Phe86Val)
11g.128840039A>GCA383246747KCNJ1c.205T>C (p.Phe69Leu)
c.262T>C (p.Phe88Leu)
c.256T>C (p.Phe86Leu)
11g.128840039A>TCA383246749KCNJ1c.205T>A (p.Phe69Ile)
c.262T>A (p.Phe88Ile)
c.256T>A (p.Phe86Ile)
11g.128840040G>ACA477703225KCNJ1c.204C>T (p.Ala68=)
c.261C>T (p.Ala87=)
c.255C>T (p.Ala85=)
 ClinVar
11g.128840040G>CCA477703227KCNJ1c.204C>G (p.Ala68=)
c.261C>G (p.Ala87=)
c.255C>G (p.Ala85=)
11g.128840040G>TCA477703226KCNJ1c.204C>A (p.Ala68=)
c.261C>A (p.Ala87=)
c.255C>A (p.Ala85=)
11g.128840041G>ACA383246751KCNJ1c.203C>T (p.Ala68Val)
c.260C>T (p.Ala87Val)
c.254C>T (p.Ala85Val)
 dbSNP gnomAD v4
11g.128840041G>CCA383246752KCNJ1c.203C>G (p.Ala68Gly)
c.260C>G (p.Ala87Gly)
c.254C>G (p.Ala85Gly)
11g.128840041G=CA2008251620KCNJ1c.203C= (p.Ala68=)
c.260C= (p.Ala87=)
c.254C= (p.Ala85=)
11g.128840041G>TCA383246754KCNJ1c.203C>A (p.Ala68Asp)
c.260C>A (p.Ala87Asp)
c.254C>A (p.Ala85Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.128840042C>ACA383246759KCNJ1c.202G>T (p.Ala68Ser)
c.259G>T (p.Ala87Ser)
c.253G>T (p.Ala85Ser)
 COSMIC
11g.128840042C>GCA383246761KCNJ1c.202G>C (p.Ala68Pro)
c.259G>C (p.Ala87Pro)
c.253G>C (p.Ala85Pro)
11g.128840042C>TCA383246763KCNJ1c.202G>A (p.Ala68Thr)
c.259G>A (p.Ala87Thr)
c.253G>A (p.Ala85Thr)
 gnomAD v4
11g.128840043T>ACA477703266KCNJ1c.201A>T (p.Thr67=)
c.258A>T (p.Thr86=)
c.252A>T (p.Thr84=)
11g.128840043T>CCA6357553KCNJ1c.201A>G (p.Thr67=)
c.258A>G (p.Thr86=)
c.252A>G (p.Thr84=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840043T>GCA477703267KCNJ1c.201A>C (p.Thr67=)
c.258A>C (p.Thr86=)
c.252A>C (p.Thr84=)
 ClinVar
11g.128840043T=CA2008251623KCNJ1c.201A= (p.Thr67=)
c.258A= (p.Thr86=)
c.252A= (p.Thr84=)
11g.128840044G>ACA383246767KCNJ1c.200C>T (p.Thr67Ile)
c.257C>T (p.Thr86Ile)
c.251C>T (p.Thr84Ile)
11g.128840044G>CCA383246772KCNJ1c.200C>G (p.Thr67Arg)
c.257C>G (p.Thr86Arg)
c.251C>G (p.Thr84Arg)
11g.128840044G>TCA383246774KCNJ1c.200C>A (p.Thr67Lys)
c.257C>A (p.Thr86Lys)
c.251C>A (p.Thr84Lys)
11g.128840045T>ACA383246790KCNJ1c.199A>T (p.Thr67Ser)
c.256A>T (p.Thr86Ser)
c.250A>T (p.Thr84Ser)
11g.128840045T>CCA6357554KCNJ1c.199A>G (p.Thr67Ala)
c.256A>G (p.Thr86Ala)
c.250A>G (p.Thr84Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840045T>GCA383246789KCNJ1c.199A>C (p.Thr67Pro)
c.256A>C (p.Thr86Pro)
c.250A>C (p.Thr84Pro)
11g.128840045T=CA2008251630KCNJ1c.199A= (p.Thr67=)
c.256A= (p.Thr86=)
c.250A= (p.Thr84=)
11g.128840046G>ACA477703271KCNJ1c.198C>T (p.Ile66=)
c.255C>T (p.Ile85=)
c.249C>T (p.Ile83=)
11g.128840046G>CCA383246792KCNJ1c.198C>G (p.Ile66Met)
c.255C>G (p.Ile85Met)
c.249C>G (p.Ile83Met)
11g.128840046G>TCA477703272KCNJ1c.198C>A (p.Ile66=)
c.255C>A (p.Ile85=)
c.249C>A (p.Ile83=)
11g.128840047A=CA2008251633KCNJ1c.197T= (p.Ile66=)
c.254T= (p.Ile85=)
c.248T= (p.Ile83=)
11g.128840047A>CCA383246794KCNJ1c.197T>G (p.Ile66Ser)
c.254T>G (p.Ile85Ser)
c.248T>G (p.Ile83Ser)
11g.128840047A>GCA383246796KCNJ1c.197T>C (p.Ile66Thr)
c.254T>C (p.Ile85Thr)
c.248T>C (p.Ile83Thr)
11g.128840047A>TCA6357555KCNJ1c.197T>A (p.Ile66Asn)
c.254T>A (p.Ile85Asn)
c.248T>A (p.Ile83Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840048T>ACA383246797KCNJ1c.196A>T (p.Ile66Phe)
c.253A>T (p.Ile85Phe)
c.247A>T (p.Ile83Phe)
11g.128840048T>CCA383246799KCNJ1c.196A>G (p.Ile66Val)
c.253A>G (p.Ile85Val)
c.247A>G (p.Ile83Val)
11g.128840048T>GCA383246800KCNJ1c.196A>C (p.Ile66Leu)
c.253A>C (p.Ile85Leu)
c.247A>C (p.Ile83Leu)
 gnomAD v4
11g.128840049G>ACA477703278KCNJ1c.195C>T (p.Phe65=)
c.252C>T (p.Phe84=)
c.246C>T (p.Phe82=)
 gnomAD v4
11g.128840049G>CCA383246802KCNJ1c.195C>G (p.Phe65Leu)
c.252C>G (p.Phe84Leu)
c.246C>G (p.Phe82Leu)
11g.128840049G>TCA383246804KCNJ1c.195C>A (p.Phe65Leu)
c.252C>A (p.Phe84Leu)
c.246C>A (p.Phe82Leu)
11g.128840049_128840050delinsGACA2008251640KCNJ1c.194_195delinsTC (p.Phe65=)
c.251_252delinsTC (p.Phe84=)
c.245_246delinsTC (p.Phe82=)
11g.128840050A>CCA383246806KCNJ1c.194T>G (p.Phe65Cys)
c.251T>G (p.Phe84Cys)
c.245T>G (p.Phe82Cys)
11g.128840050A>GCA383246808KCNJ1c.194T>C (p.Phe65Ser)
c.251T>C (p.Phe84Ser)
c.245T>C (p.Phe82Ser)
11g.128840050A>TCA383246810KCNJ1c.194T>A (p.Phe65Tyr)
c.251T>A (p.Phe84Tyr)
c.245T>A (p.Phe82Tyr)
11g.128840053delCA673267458KCNJ1c.194del (p.Phe65SerfsTer19)
c.251del (p.Phe84SerfsTer19)
c.245del (p.Phe82SerfsTer19)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128840051A>CCA383246812KCNJ1c.193T>G (p.Phe65Val)
c.250T>G (p.Phe84Val)
c.244T>G (p.Phe82Val)
11g.128840051A>GCA383246814KCNJ1c.193T>C (p.Phe65Leu)
c.250T>C (p.Phe84Leu)
c.244T>C (p.Phe82Leu)
11g.128840051A>TCA383246816KCNJ1c.193T>A (p.Phe65Ile)
c.250T>A (p.Phe84Ile)
c.244T>A (p.Phe82Ile)
11g.128840052A>CCA383246818KCNJ1c.192T>G (p.Ile64Met)
c.249T>G (p.Ile83Met)
c.243T>G (p.Ile81Met)
11g.128840052A>GCA477703283KCNJ1c.192T>C (p.Ile64=)
c.249T>C (p.Ile83=)
c.243T>C (p.Ile81=)
11g.128840052A>TCA477703284KCNJ1c.192T>A (p.Ile64=)
c.249T>A (p.Ile83=)
c.243T>A (p.Ile81=)
11g.128840053A>CCA383246821KCNJ1c.191T>G (p.Ile64Ser)
c.248T>G (p.Ile83Ser)
c.242T>G (p.Ile81Ser)
11g.128840053A>GCA383246824KCNJ1c.191T>C (p.Ile64Thr)
c.248T>C (p.Ile83Thr)
c.242T>C (p.Ile81Thr)
11g.128840053A>TCA383246826KCNJ1c.191T>A (p.Ile64Asn)
c.248T>A (p.Ile83Asn)
c.242T>A (p.Ile81Asn)
11g.128840054T>ACA383246828KCNJ1c.190A>T (p.Ile64Phe)
c.247A>T (p.Ile83Phe)
c.241A>T (p.Ile81Phe)
 gnomAD v4
11g.128840054T>CCA383246830KCNJ1c.190A>G (p.Ile64Val)
c.247A>G (p.Ile83Val)
c.241A>G (p.Ile81Val)
11g.128840054T>GCA383246832KCNJ1c.190A>C (p.Ile64Leu)
c.247A>C (p.Ile83Leu)
c.241A>C (p.Ile81Leu)
11g.128840055G>ACA477703293KCNJ1c.189C>T (p.Thr63=)
c.246C>T (p.Thr82=)
c.240C>T (p.Thr80=)
 gnomAD v4
11g.128840055G>CCA6357556KCNJ1c.189C>G (p.Thr63=)
c.246C>G (p.Thr82=)
c.240C>G (p.Thr80=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840055G=CA2008251651KCNJ1c.189C= (p.Thr63=)
c.246C= (p.Thr82=)
c.240C= (p.Thr80=)
11g.128840055G>TCA477703292KCNJ1c.189C>A (p.Thr63=)
c.246C>A (p.Thr82=)
c.240C>A (p.Thr80=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840056G>ACA230629028KCNJ1c.188C>T (p.Thr63Ile)
c.245C>T (p.Thr82Ile)
c.239C>T (p.Thr80Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.128840056G>CCA383246837KCNJ1c.188C>G (p.Thr63Ser)
c.245C>G (p.Thr82Ser)
c.239C>G (p.Thr80Ser)
11g.128840056G=CA2008251654KCNJ1c.188C= (p.Thr63=)
c.245C= (p.Thr82=)
c.239C= (p.Thr80=)
11g.128840056G>TCA383246840KCNJ1c.188C>A (p.Thr63Asn)
c.245C>A (p.Thr82Asn)
c.239C>A (p.Thr80Asn)
11g.128840057T>ACA383246843KCNJ1c.187A>T (p.Thr63Ser)
c.244A>T (p.Thr82Ser)
c.238A>T (p.Thr80Ser)
 dbSNP gnomAD v4
11g.128840057T>CCA383246846KCNJ1c.187A>G (p.Thr63Ala)
c.244A>G (p.Thr82Ala)
c.238A>G (p.Thr80Ala)
11g.128840057T>GCA383246849KCNJ1c.187A>C (p.Thr63Pro)
c.244A>C (p.Thr82Pro)
c.238A>C (p.Thr80Pro)
 dbSNP
11g.128840058C>ACA383246851KCNJ1c.186G>T (p.Met62Ile)
c.243G>T (p.Met81Ile)
c.237G>T (p.Met79Ile)
11g.128840058C>GCA383246854KCNJ1c.186G>C (p.Met62Ile)
c.243G>C (p.Met81Ile)
c.237G>C (p.Met79Ile)
11g.128840058C>TCA383246853KCNJ1c.186G>A (p.Met62Ile)
c.243G>A (p.Met81Ile)
c.237G>A (p.Met79Ile)
11g.128840059A>CCA383246858KCNJ1c.185T>G (p.Met62Arg)
c.242T>G (p.Met81Arg)
c.236T>G (p.Met79Arg)
11g.128840059A>GCA383246860KCNJ1c.185T>C (p.Met62Thr)
c.242T>C (p.Met81Thr)
c.236T>C (p.Met79Thr)
 gnomAD v4
11g.128840059A>TCA383246863KCNJ1c.185T>A (p.Met62Lys)
c.242T>A (p.Met81Lys)
c.236T>A (p.Met79Lys)
11g.128840060T>ACA383246865KCNJ1c.184A>T (p.Met62Leu)
c.241A>T (p.Met81Leu)
c.235A>T (p.Met79Leu)
11g.128840060T>CCA383246867KCNJ1c.184A>G (p.Met62Val)
c.241A>G (p.Met81Val)
c.235A>G (p.Met79Val)
11g.128840060T>GCA383246870KCNJ1c.184A>C (p.Met62Leu)
c.241A>C (p.Met81Leu)
c.235A>C (p.Met79Leu)
11g.128840061T>ACA383246875KCNJ1c.183A>T (p.Lys61Asn)
c.240A>T (p.Lys80Asn)
c.234A>T (p.Lys78Asn)
11g.128840061T>CCA477703298KCNJ1c.183A>G (p.Lys61=)
c.240A>G (p.Lys80=)
c.234A>G (p.Lys78=)
11g.128840061T>GCA383246872KCNJ1c.183A>C (p.Lys61Asn)
c.240A>C (p.Lys80Asn)
c.234A>C (p.Lys78Asn)
11g.128840062T>ACA383246880KCNJ1c.182A>T (p.Lys61Ile)
c.239A>T (p.Lys80Ile)
c.233A>T (p.Lys78Ile)
11g.128840062T>CCA383246883KCNJ1c.182A>G (p.Lys61Arg)
c.239A>G (p.Lys80Arg)
c.233A>G (p.Lys78Arg)
11g.128840062T>GCA383246885KCNJ1c.182A>C (p.Lys61Thr)
c.239A>C (p.Lys80Thr)
c.233A>C (p.Lys78Thr)
11g.128840063T>ACA383246889KCNJ1c.181A>T (p.Lys61Ter)
c.238A>T (p.Lys80Ter)
c.232A>T (p.Lys78Ter)
11g.128840063T>CCA383246892KCNJ1c.181A>G (p.Lys61Glu)
c.238A>G (p.Lys80Glu)
c.232A>G (p.Lys78Glu)
 COSMIC
11g.128840063T>GCA383246895KCNJ1c.181A>C (p.Lys61Gln)
c.238A>C (p.Lys80Gln)
c.232A>C (p.Lys78Gln)
11g.128840064G>ACA6357557KCNJ1c.180C>T (p.Tyr60=)
c.237C>T (p.Tyr79=)
n.525C>T
c.231C>T (p.Tyr77=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840064G>CCA120150KCNJ1c.180C>G (p.Tyr60Ter)
c.237C>G (p.Tyr79Ter)
n.525C>G
c.231C>G (p.Tyr77Ter)
 ClinVar dbSNP gnomAD v4
11g.128840064G=CA2008251664KCNJ1c.180C= (p.Tyr60=)
c.237C= (p.Tyr79=)
n.525C=
c.231C= (p.Tyr77=)
11g.128840064G>TCA383246902KCNJ1c.180C>A (p.Tyr60Ter)
c.237C>A (p.Tyr79Ter)
n.525C>A
c.231C>A (p.Tyr77Ter)
11g.128840065T>ACA383246906KCNJ1c.179A>T (p.Tyr60Phe)
c.236A>T (p.Tyr79Phe)
n.524A>T
c.230A>T (p.Tyr77Phe)
 gnomAD v4
11g.128840065T>CCA383246908KCNJ1c.179A>G (p.Tyr60Cys)
c.236A>G (p.Tyr79Cys)
n.524A>G
c.230A>G (p.Tyr77Cys)
 dbSNP gnomAD v4
11g.128840065T>GCA383246910KCNJ1c.179A>C (p.Tyr60Ser)
c.236A>C (p.Tyr79Ser)
n.524A>C
c.230A>C (p.Tyr77Ser)
11g.128840065T=CA2008251671KCNJ1c.179A= (p.Tyr60=)
c.236A= (p.Tyr79=)
n.524A=
c.230A= (p.Tyr77=)
11g.128840066A=CA2008251674KCNJ1c.178T= (p.Tyr60=)
c.235T= (p.Tyr79=)
n.523T=
c.229T= (p.Tyr77=)
11g.128840066A>CCA383246913KCNJ1c.178T>G (p.Tyr60Asp)
c.235T>G (p.Tyr79Asp)
n.523T>G
c.229T>G (p.Tyr77Asp)
11g.128840066A>GCA383246915KCNJ1c.178T>C (p.Tyr60His)
c.235T>C (p.Tyr79His)
n.523T>C
c.229T>C (p.Tyr77His)
 dbSNP gnomAD v3 gnomAD v4
11g.128840066A>TCA383246917KCNJ1c.178T>A (p.Tyr60Asn)
c.235T>A (p.Tyr79Asn)
n.523T>A
c.229T>A (p.Tyr77Asn)
11g.128840067T>ACA383246922KCNJ1c.177A>T (p.Arg59Ser)
c.234A>T (p.Arg78Ser)
n.522A>T
c.228A>T (p.Arg76Ser)
11g.128840067T>CCA477703307KCNJ1c.177A>G (p.Arg59=)
c.234A>G (p.Arg78=)
n.522A>G
c.228A>G (p.Arg76=)
11g.128840067T>GCA383246924KCNJ1c.177A>C (p.Arg59Ser)
c.234A>C (p.Arg78Ser)
n.522A>C
c.228A>C (p.Arg76Ser)
 COSMIC
11g.128840068C>ACA383246927KCNJ1c.176G>T (p.Arg59Ile)
c.233G>T (p.Arg78Ile)
n.521G>T
c.227G>T (p.Arg76Ile)
11g.128840068C>GCA383246929KCNJ1c.176G>C (p.Arg59Thr)
c.233G>C (p.Arg78Thr)
n.521G>C
c.227G>C (p.Arg76Thr)
11g.128840068C>TCA383246931KCNJ1c.176G>A (p.Arg59Lys)
c.233G>A (p.Arg78Lys)
n.521G>A
c.227G>A (p.Arg76Lys)
11g.128840069delCA2616771387KCNJ1c.175del (p.Arg59AspfsTer4)
c.232del (p.Arg78AspfsTer4)
n.520del
c.226del (p.Arg76AspfsTer4)
 gnomAD v4
11g.128840069T>ACA383246935KCNJ1c.175A>T (p.Arg59Ter)
c.232A>T (p.Arg78Ter)
n.520A>T
c.226A>T (p.Arg76Ter)
11g.128840069T>CCA383246938KCNJ1c.175A>G (p.Arg59Gly)
c.232A>G (p.Arg78Gly)
n.520A>G
c.226A>G (p.Arg76Gly)
11g.128840069T>GCA477703310KCNJ1c.175A>C (p.Arg59=)
c.232A>C (p.Arg78=)
n.520A>C
c.226A>C (p.Arg76=)
11g.128840070C>ACA383246941KCNJ1c.174G>T (p.Trp58Cys)
c.231G>T (p.Trp77Cys)
n.519G>T
c.225G>T (p.Trp75Cys)
11g.128840070C>GCA383246947KCNJ1c.174G>C (p.Trp58Cys)
c.231G>C (p.Trp77Cys)
n.519G>C
c.225G>C (p.Trp75Cys)
11g.128840070C>TCA383246942KCNJ1c.174G>A (p.Trp58Ter)
c.231G>A (p.Trp77Ter)
n.519G>A
c.225G>A (p.Trp75Ter)
 ClinVar
11g.128840071C>ACA383246948KCNJ1c.173G>T (p.Trp58Leu)
c.230G>T (p.Trp77Leu)
n.518G>T
c.224G>T (p.Trp75Leu)
11g.128840071C=CA2008251677KCNJ1c.173G= (p.Trp58=)
c.230G= (p.Trp77=)
n.518G=
c.224G= (p.Trp75=)
11g.128840071C>GCA383246949KCNJ1c.173G>C (p.Trp58Ser)
c.230G>C (p.Trp77Ser)
n.518G>C
c.224G>C (p.Trp75Ser)
11g.128840071C>TCA383246950KCNJ1c.173G>A (p.Trp58Ter)
c.230G>A (p.Trp77Ter)
n.518G>A
c.224G>A (p.Trp75Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840072A>CCA383246951KCNJ1c.172T>G (p.Trp58Gly)
c.229T>G (p.Trp77Gly)
n.517T>G
c.223T>G (p.Trp75Gly)
11g.128840072A>GCA383246952KCNJ1c.172T>C (p.Trp58Arg)
c.229T>C (p.Trp77Arg)
n.517T>C
c.223T>C (p.Trp75Arg)
 gnomAD v4
11g.128840072A>TCA383246953KCNJ1c.172T>A (p.Trp58Arg)
c.229T>A (p.Trp77Arg)
n.517T>A
c.223T>A (p.Trp75Arg)
11g.128840073C>ACA383246954KCNJ1c.171G>T (p.Lys57Asn)
c.228G>T (p.Lys76Asn)
n.516G>T
c.222G>T (p.Lys74Asn)
11g.128840073C=CA2008251682KCNJ1c.171G= (p.Lys57=)
c.228G= (p.Lys76=)
n.516G=
c.222G= (p.Lys74=)
11g.128840073C>GCA383246956KCNJ1c.171G>C (p.Lys57Asn)
c.228G>C (p.Lys76Asn)
n.516G>C
c.222G>C (p.Lys74Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.128840073C>TCA6357558KCNJ1c.171G>A (p.Lys57=)
c.228G>A (p.Lys76=)
n.516G>A
c.222G>A (p.Lys74=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840074T>ACA383246960KCNJ1c.170A>T (p.Lys57Met)
c.227A>T (p.Lys76Met)
n.515A>T
c.221A>T (p.Lys74Met)
11g.128840074T>CCA383246962KCNJ1c.170A>G (p.Lys57Arg)
c.227A>G (p.Lys76Arg)
n.515A>G
c.221A>G (p.Lys74Arg)
 COSMIC
11g.128840074T>GCA383246965KCNJ1c.170A>C (p.Lys57Thr)
c.227A>C (p.Lys76Thr)
n.515A>C
c.221A>C (p.Lys74Thr)
11g.128840075T>ACA383246973KCNJ1c.169A>T (p.Lys57Ter)
c.226A>T (p.Lys76Ter)
n.514A>T
c.220A>T (p.Lys74Ter)
11g.128840075T>CCA383246970KCNJ1c.169A>G (p.Lys57Glu)
c.226A>G (p.Lys76Glu)
n.514A>G
c.220A>G (p.Lys74Glu)
 dbSNP gnomAD v4
11g.128840075T>GCA383246967KCNJ1c.169A>C (p.Lys57Gln)
c.226A>C (p.Lys76Gln)
n.514A>C
c.220A>C (p.Lys74Gln)
 gnomAD v4
11g.128840075T=CA2008251686KCNJ1c.169A= (p.Lys57=)
c.226A= (p.Lys76=)
n.514A=
c.220A= (p.Lys74=)
11g.128840076G>ACA6357559KCNJ1c.168C>T (p.Leu56=)
c.225C>T (p.Leu75=)
n.513C>T
c.219C>T (p.Leu73=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840076G>CCA477703320KCNJ1c.168C>G (p.Leu56=)
c.225C>G (p.Leu75=)
n.513C>G
c.219C>G (p.Leu73=)
 COSMIC
11g.128840076G=CA2008251696KCNJ1c.168C= (p.Leu56=)
c.225C= (p.Leu75=)
n.513C=
c.219C= (p.Leu73=)
11g.128840076G>TCA477703321KCNJ1c.168C>A (p.Leu56=)
c.225C>A (p.Leu75=)
n.513C>A
c.219C>A (p.Leu73=)
11g.128840077A>CCA383246978KCNJ1c.167T>G (p.Leu56Arg)
c.224T>G (p.Leu75Arg)
n.512T>G
c.218T>G (p.Leu73Arg)
11g.128840077A>GCA383246980KCNJ1c.167T>C (p.Leu56Pro)
c.224T>C (p.Leu75Pro)
n.512T>C
c.218T>C (p.Leu73Pro)
11g.128840077A>TCA383246983KCNJ1c.167T>A (p.Leu56His)
c.224T>A (p.Leu75His)
n.512T>A
c.218T>A (p.Leu73His)
11g.128840078G>ACA383246987KCNJ1c.166C>T (p.Leu56Phe)
c.223C>T (p.Leu75Phe)
n.511C>T
c.217C>T (p.Leu73Phe)
 gnomAD v4
11g.128840078G>CCA383246989KCNJ1c.166C>G (p.Leu56Val)
c.223C>G (p.Leu75Val)
n.511C>G
c.217C>G (p.Leu73Val)
11g.128840078G>TCA383246990KCNJ1c.166C>A (p.Leu56Ile)
c.223C>A (p.Leu75Ile)
n.511C>A
c.217C>A (p.Leu73Ile)
 COSMIC
11g.128840079G>ACA477703322KCNJ1c.165C>T (p.Asp55=)
c.222C>T (p.Asp74=)
n.510C>T
c.216C>T (p.Asp72=)
11g.128840079G>CCA383246993KCNJ1c.165C>G (p.Asp55Glu)
c.222C>G (p.Asp74Glu)
n.510C>G
c.216C>G (p.Asp72Glu)
11g.128840079G>TCA383246995KCNJ1c.165C>A (p.Asp55Glu)
c.222C>A (p.Asp74Glu)
n.510C>A
c.216C>A (p.Asp72Glu)
11g.128840080T>ACA383247000KCNJ1c.164A>T (p.Asp55Val)
c.221A>T (p.Asp74Val)
n.509A>T
c.215A>T (p.Asp72Val)
11g.128840080T>CCA383247001KCNJ1c.164A>G (p.Asp55Gly)
c.221A>G (p.Asp74Gly)
n.509A>G
c.215A>G (p.Asp72Gly)
11g.128840080T>GCA383247003KCNJ1c.164A>C (p.Asp55Ala)
c.221A>C (p.Asp74Ala)
n.509A>C
c.215A>C (p.Asp72Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.128840080T=CA2008251701KCNJ1c.164A= (p.Asp55=)
c.221A= (p.Asp74=)
n.509A=
c.215A= (p.Asp72=)
11g.128840081C>ACA383247010KCNJ1c.163G>T (p.Asp55Tyr)
c.220G>T (p.Asp74Tyr)
n.508G>T
c.214G>T (p.Asp72Tyr)
 ClinVar
11g.128840081C>GCA383247006KCNJ1c.163G>C (p.Asp55His)
c.220G>C (p.Asp74His)
n.508G>C
c.214G>C (p.Asp72His)
11g.128840081C>TCA383247007KCNJ1c.163G>A (p.Asp55Asn)
c.220G>A (p.Asp74Asn)
n.508G>A
c.214G>A (p.Asp72Asn)
11g.128840082A>CCA477703325KCNJ1c.162T>G (p.Leu54=)
c.219T>G (p.Leu73=)
n.507T>G
c.213T>G (p.Leu71=)
11g.128840082A>GCA477703326KCNJ1c.162T>C (p.Leu54=)
c.219T>C (p.Leu73=)
n.507T>C
c.213T>C (p.Leu71=)
11g.128840082A>TCA477703327KCNJ1c.162T>A (p.Leu54=)
c.219T>A (p.Leu73=)
n.507T>A
c.213T>A (p.Leu71=)
11g.128840083A>CCA383247014KCNJ1c.161T>G (p.Leu54Arg)
c.218T>G (p.Leu73Arg)
n.506T>G
c.212T>G (p.Leu71Arg)
11g.128840083A>GCA383247019KCNJ1c.161T>C (p.Leu54Pro)
c.218T>C (p.Leu73Pro)
n.506T>C
c.212T>C (p.Leu71Pro)
11g.128840083A>TCA383247016KCNJ1c.161T>A (p.Leu54His)
c.218T>A (p.Leu73His)
n.506T>A
c.212T>A (p.Leu71His)
11g.128840084G>ACA383247023KCNJ1c.160C>T (p.Leu54Phe)
c.217C>T (p.Leu73Phe)
n.505C>T
c.211C>T (p.Leu71Phe)
11g.128840084G>CCA383247025KCNJ1c.160C>G (p.Leu54Val)
c.217C>G (p.Leu73Val)
n.505C>G
c.211C>G (p.Leu71Val)
11g.128840084G>TCA383247027KCNJ1c.160C>A (p.Leu54Ile)
c.217C>A (p.Leu73Ile)
n.505C>A
c.211C>A (p.Leu71Ile)
11g.128840085T>ACA477703329KCNJ1c.159A>T (p.Val53=)
c.216A>T (p.Val72=)
n.504A>T
c.210A>T (p.Val70=)
11g.128840085T>CCA6357560KCNJ1c.159A>G (p.Val53=)
c.216A>G (p.Val72=)
n.504A>G
c.210A>G (p.Val70=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840085T>GCA477703330KCNJ1c.159A>C (p.Val53=)
c.216A>C (p.Val72=)
n.504A>C
c.210A>C (p.Val70=)
11g.128840085T=CA2008251708KCNJ1c.159A= (p.Val53=)
c.216A= (p.Val72=)
n.504A=
c.210A= (p.Val70=)
11g.128840086A=CA2008251713KCNJ1c.158T= (p.Val53=)
c.215T= (p.Val72=)
n.503T=
c.209T= (p.Val70=)
11g.128840086A>CCA383247032KCNJ1c.158T>G (p.Val53Gly)
c.215T>G (p.Val72Gly)
n.503T>G
c.209T>G (p.Val70Gly)
11g.128840086A>GCA6357561KCNJ1c.158T>C (p.Val53Ala)
c.215T>C (p.Val72Ala)
n.503T>C
c.209T>C (p.Val70Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840086A>TCA383247036KCNJ1c.158T>A (p.Val53Glu)
c.215T>A (p.Val72Glu)
n.503T>A
c.209T>A (p.Val70Glu)
 gnomAD v4
11g.128840087C>ACA383247039KCNJ1c.157G>T (p.Val53Leu)
c.214G>T (p.Val72Leu)
n.502G>T
c.208G>T (p.Val70Leu)
11g.128840087C>GCA383247041KCNJ1c.157G>C (p.Val53Leu)
c.214G>C (p.Val72Leu)
n.502G>C
c.208G>C (p.Val70Leu)
11g.128840087C>TCA383247043KCNJ1c.157G>A (p.Val53Ile)
c.214G>A (p.Val72Ile)
n.502G>A
c.208G>A (p.Val70Ile)
11g.128840088C>ACA477703333KCNJ1c.156G>T (p.Thr52=)
c.213G>T (p.Thr71=)
n.501G>T
c.207G>T (p.Thr69=)
 dbSNP
11g.128840088C=CA2008251723KCNJ1c.156G= (p.Thr52=)
c.213G= (p.Thr71=)
n.501G=
c.207G= (p.Thr69=)
11g.128840088C>GCA477703335KCNJ1c.156G>C (p.Thr52=)
c.213G>C (p.Thr71=)
n.501G>C
c.207G>C (p.Thr69=)
 ClinVar dbSNP gnomAD v4
11g.128840088C>TCA6357562KCNJ1c.156G>A (p.Thr52=)
c.213G>A (p.Thr71=)
n.501G>A
c.207G>A (p.Thr69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840089G>ACA6357563KCNJ1c.155C>T (p.Thr52Met)
c.212C>T (p.Thr71Met)
n.500C>T
c.206C>T (p.Thr69Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840089G>CCA383247052KCNJ1c.155C>G (p.Thr52Arg)
c.212C>G (p.Thr71Arg)
n.500C>G
c.206C>G (p.Thr69Arg)
11g.128840089G=CA2008251729KCNJ1c.155C= (p.Thr52=)
c.212C= (p.Thr71=)
n.500C=
c.206C= (p.Thr69=)
11g.128840089G>TCA383247050KCNJ1c.155C>A (p.Thr52Lys)
c.212C>A (p.Thr71Lys)
n.500C>A
c.206C>A (p.Thr69Lys)
11g.128840090T>ACA383247057KCNJ1c.154A>T (p.Thr52Ser)
c.211A>T (p.Thr71Ser)
n.499A>T
c.205A>T (p.Thr69Ser)
11g.128840090T>CCA383247059KCNJ1c.154A>G (p.Thr52Ala)
c.211A>G (p.Thr71Ala)
n.499A>G
c.205A>G (p.Thr69Ala)
11g.128840090T>GCA383247060KCNJ1c.154A>C (p.Thr52Pro)
c.211A>C (p.Thr71Pro)
n.499A>C
c.205A>C (p.Thr69Pro)
11g.128840091T>ACA477703342KCNJ1c.153A>T (p.Thr51=)
c.210A>T (p.Thr70=)
n.498A>T
c.204A>T (p.Thr68=)
11g.128840091T>CCA477703341KCNJ1c.153A>G (p.Thr51=)
c.210A>G (p.Thr70=)
n.498A>G
c.204A>G (p.Thr68=)
 gnomAD v4
11g.128840091T>GCA477703340KCNJ1c.153A>C (p.Thr51=)
c.210A>C (p.Thr70=)
n.498A>C
c.204A>C (p.Thr68=)
11g.128840092G>ACA383247063KCNJ1c.152C>T (p.Thr51Ile)
c.209C>T (p.Thr70Ile)
n.497C>T
c.203C>T (p.Thr68Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.128840092G>CCA383247066KCNJ1c.152C>G (p.Thr51Arg)
c.209C>G (p.Thr70Arg)
n.497C>G
c.203C>G (p.Thr68Arg)
11g.128840092G=CA2008251732KCNJ1c.152C= (p.Thr51=)
c.209C= (p.Thr70=)
n.497C=
c.203C= (p.Thr68=)
11g.128840092G>TCA383247068KCNJ1c.152C>A (p.Thr51Lys)
c.209C>A (p.Thr70Lys)
n.497C>A
c.203C>A (p.Thr68Lys)
11g.128840093T>ACA383247071KCNJ1c.151A>T (p.Thr51Ser)
c.208A>T (p.Thr70Ser)
n.496A>T
c.202A>T (p.Thr68Ser)
11g.128840093T>CCA383247074KCNJ1c.151A>G (p.Thr51Ala)
c.208A>G (p.Thr70Ala)
n.496A>G
c.202A>G (p.Thr68Ala)
11g.128840093T>GCA383247076KCNJ1c.151A>C (p.Thr51Pro)
c.208A>C (p.Thr70Pro)
n.496A>C
c.202A>C (p.Thr68Pro)
11g.128840094C>ACA383247080KCNJ1c.150G>T (p.Trp50Cys)
c.207G>T (p.Trp69Cys)
n.495G>T
c.201G>T (p.Trp67Cys)
11g.128840094C>GCA383247083KCNJ1c.150G>C (p.Trp50Cys)
c.207G>C (p.Trp69Cys)
n.495G>C
c.201G>C (p.Trp67Cys)
11g.128840094C>TCA383247086KCNJ1c.150G>A (p.Trp50Ter)
c.207G>A (p.Trp69Ter)
n.495G>A
c.201G>A (p.Trp67Ter)
11g.128840095C>ACA383247095KCNJ1c.149G>T (p.Trp50Leu)
c.206G>T (p.Trp69Leu)
n.494G>T
c.200G>T (p.Trp67Leu)
11g.128840095C=CA2008251735KCNJ1c.149G= (p.Trp50=)
c.206G= (p.Trp69=)
n.494G=
c.200G= (p.Trp67=)
11g.128840095C>GCA383247091KCNJ1c.149G>C (p.Trp50Ser)
c.206G>C (p.Trp69Ser)
n.494G>C
c.200G>C (p.Trp67Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.128840095C>TCA383247088KCNJ1c.149G>A (p.Trp50Ter)
c.206G>A (p.Trp69Ter)
n.494G>A
c.200G>A (p.Trp67Ter)
 gnomAD v4
11g.128840096delCA477703350KCNJ1c.148del (p.Trp50GlyfsTer13)
c.205del (p.Trp69GlyfsTer13)
n.493del
c.199del (p.Trp67GlyfsTer13)
 COSMIC
11g.128840096A=CA2008251746KCNJ1c.148T= (p.Trp50=)
c.205T= (p.Trp69=)
n.493T=
c.199T= (p.Trp67=)
11g.128840096A>CCA6357564KCNJ1c.148T>G (p.Trp50Gly)
c.205T>G (p.Trp69Gly)
n.493T>G
c.199T>G (p.Trp67Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840096A>GCA383247098KCNJ1c.148T>C (p.Trp50Arg)
c.205T>C (p.Trp69Arg)
n.493T>C
c.199T>C (p.Trp67Arg)
11g.128840096A>TCA383247101KCNJ1c.148T>A (p.Trp50Arg)
c.205T>A (p.Trp69Arg)
n.493T>A
c.199T>A (p.Trp67Arg)
 ClinVar
11g.128840097G>ACA477703355KCNJ1c.147C>T (p.Ile49=)
c.204C>T (p.Ile68=)
n.492C>T
c.198C>T (p.Ile66=)
 dbSNP
11g.128840097G>CCA383247105KCNJ1c.147C>G (p.Ile49Met)
c.204C>G (p.Ile68Met)
n.492C>G
c.198C>G (p.Ile66Met)
11g.128840097G=CA2008251749KCNJ1c.147C= (p.Ile49=)
c.204C= (p.Ile68=)
n.492C=
c.198C= (p.Ile66=)
11g.128840097G>TCA477703353KCNJ1c.147C>A (p.Ile49=)
c.204C>A (p.Ile68=)
n.492C>A
c.198C>A (p.Ile66=)
11g.128840098A>CCA383247107KCNJ1c.146T>G (p.Ile49Ser)
c.203T>G (p.Ile68Ser)
n.491T>G
c.197T>G (p.Ile66Ser)
11g.128840098A>GCA383247109KCNJ1c.146T>C (p.Ile49Thr)
c.203T>C (p.Ile68Thr)
n.491T>C
c.197T>C (p.Ile66Thr)
 gnomAD v4
11g.128840098A>TCA383247111KCNJ1c.146T>A (p.Ile49Asn)
c.203T>A (p.Ile68Asn)
n.491T>A
c.197T>A (p.Ile66Asn)
11g.128840099T>ACA383247126KCNJ1c.145A>T (p.Ile49Phe)
c.202A>T (p.Ile68Phe)
n.490A>T
c.196A>T (p.Ile66Phe)
11g.128840099T>CCA383247114KCNJ1c.145A>G (p.Ile49Val)
c.202A>G (p.Ile68Val)
n.490A>G
c.196A>G (p.Ile66Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840099T>GCA383247117KCNJ1c.145A>C (p.Ile49Leu)
c.202A>C (p.Ile68Leu)
n.490A>C
c.196A>C (p.Ile66Leu)
11g.128840099T=CA2008251752KCNJ1c.145A= (p.Ile49=)
c.202A= (p.Ile68=)
n.490A=
c.196A= (p.Ile66=)
11g.128840100G>ACA477703358KCNJ1c.144C>T (p.Asp48=)
c.201C>T (p.Asp67=)
n.489C>T
c.195C>T (p.Asp65=)
11g.128840100G>CCA383247131KCNJ1c.144C>G (p.Asp48Glu)
c.201C>G (p.Asp67Glu)
n.489C>G
c.195C>G (p.Asp65Glu)
11g.128840100G>TCA383247133KCNJ1c.144C>A (p.Asp48Glu)
c.201C>A (p.Asp67Glu)
n.489C>A
c.195C>A (p.Asp65Glu)
11g.128840101T>ACA383247138KCNJ1c.143A>T (p.Asp48Val)
c.200A>T (p.Asp67Val)
n.488A>T
c.194A>T (p.Asp65Val)
11g.128840101T>CCA383247140KCNJ1c.143A>G (p.Asp48Gly)
c.200A>G (p.Asp67Gly)
n.488A>G
c.194A>G (p.Asp65Gly)
11g.128840101T>GCA383247144KCNJ1c.143A>C (p.Asp48Ala)
c.200A>C (p.Asp67Ala)
n.488A>C
c.194A>C (p.Asp65Ala)
11g.128840102C>ACA383247149KCNJ1c.142G>T (p.Asp48Tyr)
c.199G>T (p.Asp67Tyr)
n.487G>T
c.193G>T (p.Asp65Tyr)
11g.128840102C>GCA383247154KCNJ1c.142G>C (p.Asp48His)
c.199G>C (p.Asp67His)
n.487G>C
c.193G>C (p.Asp65His)
11g.128840102C>TCA383247151KCNJ1c.142G>A (p.Asp48Asn)
c.199G>A (p.Asp67Asn)
n.487G>A
c.193G>A (p.Asp65Asn)
11g.128840103C>ACA477703361KCNJ1c.141G>T (p.Val47=)
c.198G>T (p.Val66=)
n.486G>T
c.192G>T (p.Val64=)
11g.128840103C=CA2008251755KCNJ1c.141G= (p.Val47=)
c.198G= (p.Val66=)
n.486G=
c.192G= (p.Val64=)
11g.128840103C>GCA6357565KCNJ1c.141G>C (p.Val47=)
c.198G>C (p.Val66=)
n.486G>C
c.192G>C (p.Val64=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840103C>TCA477703363KCNJ1c.141G>A (p.Val47=)
c.198G>A (p.Val66=)
n.486G>A
c.192G>A (p.Val64=)

Number of alleles fetched