Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched