Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128911725_128911744delinsGGTATGGCTTCCGAGTCATCCA2008292589KCNJ5c.452_471delinsGGTATGGCTTCCGAGTCATC (p.Gly151=)
11g.128911726_128911744delCA673274777KCNJ5c.453_471del (p.Tyr152GlnfsTer?)
dbSNP gnomAD v3 gnomAD v4
11g.128911729T>ACA383248250KCNJ5c.456T>A (p.Tyr152Ter)
11g.128911729T>CCA477703729KCNJ5c.456T>C (p.Tyr152=)
ClinVar
11g.128911729T>GCA383248252KCNJ5c.456T>G (p.Tyr152Ter)
11g.128911730G>ACA383248253KCNJ5c.457G>A (p.Gly153Ser)
11g.128911730G>CCA383248255KCNJ5c.457G>C (p.Gly153Arg)
11g.128911730G>TCA383248258KCNJ5c.457G>T (p.Gly153Cys)
11g.128911730_128911765dupCA645595704KCNJ5c.457_492dup (p.Gly164_Ile165insGlyPheArgValIleThrGluLysCysProGluGly)
COSMIC
11g.128911731G>ACA383248261KCNJ5c.458G>A (p.Gly153Asp)
dbSNP
11g.128911731G>CCA383248264KCNJ5c.458G>C (p.Gly153Ala)
11g.128911731G>TCA383248270KCNJ5c.458G>T (p.Gly153Val)
11g.128911732C>ACA477703735KCNJ5c.459C>A (p.Gly153=)
11g.128911732C=CA2008292601KCNJ5c.459C= (p.Gly153=)
11g.128911732C>GCA477703736KCNJ5c.459C>G (p.Gly153=)
11g.128911732C>TCA477703737KCNJ5c.459C>T (p.Gly153=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128911733T>ACA383248275KCNJ5c.460T>A (p.Phe154Ile)
11g.128911733T>CCA383248293KCNJ5c.460T>C (p.Phe154Leu)
11g.128911733T>GCA383248298KCNJ5c.460T>G (p.Phe154Val)
11g.128911734T>ACA383248306KCNJ5c.461T>A (p.Phe154Tyr)
11g.128911734T>CCA383248308KCNJ5c.461T>C (p.Phe154Ser)
11g.128911734T>GCA383248310KCNJ5c.461T>G (p.Phe154Cys)
COSMIC
11g.128911735C>ACA383248318KCNJ5c.462C>A (p.Phe154Leu)
11g.128911735C=CA2008292604KCNJ5c.462C= (p.Phe154=)
11g.128911735C>GCA383248316KCNJ5c.462C>G (p.Phe154Leu)
11g.128911735C>TCA6357877KCNJ5c.462C>T (p.Phe154=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911736C>ACA477703745KCNJ5c.463C>A (p.Arg155=)
11g.128911736C=CA2008292608KCNJ5c.463C= (p.Arg155=)
11g.128911736C>GCA383248326KCNJ5c.463C>G (p.Arg155Gly)
11g.128911736C>TCA383248330KCNJ5c.463C>T (p.Arg155Ter)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128911737G>ACA6357878KCNJ5c.464G>A (p.Arg155Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911737G>CCA383248339KCNJ5c.464G>C (p.Arg155Pro)
11g.128911737G=CA2008292614KCNJ5c.464G= (p.Arg155=)
11g.128911737G>TCA6357879KCNJ5c.464G>T (p.Arg155Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911738A=CA2008292617KCNJ5c.465A= (p.Arg155=)
11g.128911738A>CCA477703751KCNJ5c.465A>C (p.Arg155=)
11g.128911738A>GCA477703752KCNJ5c.465A>G (p.Arg155=)
dbSNP gnomAD v2 gnomAD v4
11g.128911738A>TCA477703753KCNJ5c.465A>T (p.Arg155=)
11g.128911739G>ACA383248343KCNJ5c.466G>A (p.Val156Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128911739G>CCA383248345KCNJ5c.466G>C (p.Val156Leu)
dbSNP
11g.128911739G=CA2008292622KCNJ5c.466G= (p.Val156=)
11g.128911739G>TCA383248350KCNJ5c.466G>T (p.Val156Phe)
11g.128911739_128911742delinsGTCACA2008292621KCNJ5c.466_469delinsGTCA (p.Val156=)
11g.128911740T>ACA383248357KCNJ5c.467T>A (p.Val156Asp)
11g.128911740T>CCA383248361KCNJ5c.467T>C (p.Val156Ala)
11g.128911740T>GCA383248364KCNJ5c.467T>G (p.Val156Gly)
11g.128911743_128911745delCA230640470KCNJ5c.470_472del (p.Ile157del)
dbSNP COSMIC COSMIC
11g.128911741C>ACA477703760KCNJ5c.468C>A (p.Val156=)
gnomAD v4
11g.128911741C=CA2008292626KCNJ5c.468C= (p.Val156=)
11g.128911741C>GCA477703761KCNJ5c.468C>G (p.Val156=)
11g.128911741C>TCA477703762KCNJ5c.468C>T (p.Val156=)
dbSNP gnomAD v2 gnomAD v4
11g.128911742A>CCA383248381KCNJ5c.469A>C (p.Ile157Leu)
11g.128911742A>GCA383248376KCNJ5c.469A>G (p.Ile157Val)
11g.128911742A>TCA383248373KCNJ5c.469A>T (p.Ile157Phe)
11g.128911742_128911745delinsTCA645595705KCNJ5c.469_472delinsT (p.Ile157_Thr158delinsSer)
COSMIC
11g.128911743_128911751delCA645595706KCNJ5c.470_478del (p.Ile157_Glu159del)
COSMIC
11g.128911743T>ACA383248393KCNJ5c.470T>A (p.Ile157Asn)
11g.128911743T>CCA383248402KCNJ5c.470T>C (p.Ile157Thr)
11g.128911743T>GCA163133KCNJ5c.470T>G (p.Ile157Ser)
ClinVar dbSNP
11g.128911743T=CA2008292632KCNJ5c.470T= (p.Ile157=)
11g.128911743_128911744delinsAACA645595707KCNJ5c.470_471delinsAA (p.Ile157Lys)
COSMIC
11g.128911744C>ACA477703769KCNJ5c.471C>A (p.Ile157=)
11g.128911744C>GCA383248408KCNJ5c.471C>G (p.Ile157Met)
11g.128911744C>TCA477703770KCNJ5c.471C>T (p.Ile157=)
11g.128911745A=CA2008292640KCNJ5c.472A= (p.Thr158=)
11g.128911745A>CCA383248414KCNJ5c.472A>C (p.Thr158Pro)
11g.128911745A>GCA128954KCNJ5c.472A>G (p.Thr158Ala)
ClinVar dbSNP COSMIC
11g.128911745A>TCA383248427KCNJ5c.472A>T (p.Thr158Ser)
11g.128911746C>ACA383248432KCNJ5c.473C>A (p.Thr158Lys)
11g.128911746C=CA2008292646KCNJ5c.473C= (p.Thr158=)
11g.128911746C>GCA6357880KCNJ5c.473C>G (p.Thr158Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911746C>TCA383248433KCNJ5c.473C>T (p.Thr158Ile)
dbSNP gnomAD v3 gnomAD v4
11g.128911747A>CCA477703771KCNJ5c.474A>C (p.Thr158=)
11g.128911747A>GCA477703772KCNJ5c.474A>G (p.Thr158=)
11g.128911747A>TCA477703774KCNJ5c.474A>T (p.Thr158=)
11g.128911748G>ACA383248435KCNJ5c.475G>A (p.Glu159Lys)
gnomAD v4
11g.128911748G>CCA6357881KCNJ5c.475G>C (p.Glu159Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911748G=CA2008292650KCNJ5c.475G= (p.Glu159=)
11g.128911748G>TCA230640472KCNJ5c.475G>T (p.Glu159Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128911749A=CA2008292654KCNJ5c.476A= (p.Glu159=)
11g.128911749A>CCA383248455KCNJ5c.476A>C (p.Glu159Ala)
11g.128911749A>GCA6357882KCNJ5c.476A>G (p.Glu159Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911749A>TCA383248452KCNJ5c.476A>T (p.Glu159Val)
11g.128911750G>ACA477703776KCNJ5c.477G>A (p.Glu159=)
dbSNP
11g.128911750G>CCA383248460KCNJ5c.477G>C (p.Glu159Asp)
11g.128911750G=CA2008292659KCNJ5c.477G= (p.Glu159=)
11g.128911750G>TCA383248461KCNJ5c.477G>T (p.Glu159Asp)
11g.128911751A=CA2008292661KCNJ5c.478A= (p.Lys160=)
11g.128911751A>CCA383248462KCNJ5c.478A>C (p.Lys160Gln)
11g.128911751A>GCA383248463KCNJ5c.478A>G (p.Lys160Glu)
dbSNP gnomAD v4
11g.128911751A>TCA383248466KCNJ5c.478A>T (p.Lys160Ter)
11g.128911752A>CCA383248470KCNJ5c.479A>C (p.Lys160Thr)
11g.128911752A>GCA383248473KCNJ5c.479A>G (p.Lys160Arg)
11g.128911752A>TCA383248480KCNJ5c.479A>T (p.Lys160Met)
11g.128911753G>ACA477703782KCNJ5c.480G>A (p.Lys160=)
11g.128911753G>CCA383248482KCNJ5c.480G>C (p.Lys160Asn)
11g.128911753G>TCA383248494KCNJ5c.480G>T (p.Lys160Asn)
11g.128911754T>ACA383248496KCNJ5c.481T>A (p.Cys161Ser)
11g.128911754T>CCA6357883KCNJ5c.481T>C (p.Cys161Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911754T>GCA383248501KCNJ5c.481T>G (p.Cys161Gly)
11g.128911754T=CA2008292664KCNJ5c.481T= (p.Cys161=)
11g.128911755G>ACA383248513KCNJ5c.482G>A (p.Cys161Tyr)
11g.128911755G>CCA383248518KCNJ5c.482G>C (p.Cys161Ser)
11g.128911755G>TCA383248509KCNJ5c.482G>T (p.Cys161Phe)
11g.128911756T>ACA383248525KCNJ5c.483T>A (p.Cys161Ter)
11g.128911756T>CCA477703785KCNJ5c.483T>C (p.Cys161=)
11g.128911756T>GCA230640474KCNJ5c.483T>G (p.Cys161Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128911756T=CA2008292667KCNJ5c.483T= (p.Cys161=)
11g.128911757C>ACA383248531KCNJ5c.484C>A (p.Pro162Thr)
11g.128911757C>GCA383248534KCNJ5c.484C>G (p.Pro162Ala)
11g.128911757C>TCA383248532KCNJ5c.484C>T (p.Pro162Ser)
11g.128911758C>ACA383248538KCNJ5c.485C>A (p.Pro162Gln)
11g.128911758C=CA2008292671KCNJ5c.485C= (p.Pro162=)
11g.128911758C>GCA383248547KCNJ5c.485C>G (p.Pro162Arg)
11g.128911758C>TCA383248542KCNJ5c.485C>T (p.Pro162Leu)
dbSNP
11g.128911759A>CCA477703787KCNJ5c.486A>C (p.Pro162=)
11g.128911759A>GCA477703789KCNJ5c.486A>G (p.Pro162=)
11g.128911759A>TCA477703791KCNJ5c.486A>T (p.Pro162=)
11g.128911760G>ACA383248554KCNJ5c.487G>A (p.Glu163Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128911760G>CCA383248561KCNJ5c.487G>C (p.Glu163Gln)
11g.128911760G=CA2008292674KCNJ5c.487G= (p.Glu163=)
11g.128911760G>TCA383248556KCNJ5c.487G>T (p.Glu163Ter)
COSMIC
11g.128911761A>CCA383248562KCNJ5c.488A>C (p.Glu163Ala)
11g.128911761A>GCA383248564KCNJ5c.488A>G (p.Glu163Gly)
11g.128911761A>TCA383248563KCNJ5c.488A>T (p.Glu163Val)
11g.128911762G>ACA477703794KCNJ5c.489G>A (p.Glu163=)
dbSNP
11g.128911762G>CCA383248567KCNJ5c.489G>C (p.Glu163Asp)
11g.128911762G>TCA383248571KCNJ5c.489G>T (p.Glu163Asp)
11g.128911763G>ACA383248572KCNJ5c.490G>A (p.Gly164Arg)
11g.128911763G>CCA383248573KCNJ5c.490G>C (p.Gly164Arg)
11g.128911763G>TCA383248574KCNJ5c.490G>T (p.Gly164Trp)
11g.128911764G>ACA383248577KCNJ5c.491G>A (p.Gly164Glu)
11g.128911764G>CCA6357884KCNJ5c.491G>C (p.Gly164Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911764G=CA2008292679KCNJ5c.491G= (p.Gly164=)
11g.128911764G>TCA383248580KCNJ5c.491G>T (p.Gly164Val)
11g.128911765G>ACA477703798KCNJ5c.492G>A (p.Gly164=)
11g.128911765G>CCA477703799KCNJ5c.492G>C (p.Gly164=)
dbSNP
11g.128911765G=CA2008292685KCNJ5c.492G= (p.Gly164=)
11g.128911765G>TCA337877KCNJ5c.492G>T (p.Gly164=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911766A=CA2008292691KCNJ5c.493A= (p.Ile165=)
11g.128911766A>CCA383248589KCNJ5c.493A>C (p.Ile165Leu)
11g.128911766A>GCA383248591KCNJ5c.493A>G (p.Ile165Val)
dbSNP
11g.128911766A>TCA383248594KCNJ5c.493A>T (p.Ile165Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128911767T>ACA383248611KCNJ5c.494T>A (p.Ile165Asn)
11g.128911767T>CCA383248604KCNJ5c.494T>C (p.Ile165Thr)
11g.128911767T>GCA383248601KCNJ5c.494T>G (p.Ile165Ser)
11g.128911768T>ACA477703804KCNJ5c.495T>A (p.Ile165=)
11g.128911768T>CCA477703806KCNJ5c.495T>C (p.Ile165=)
11g.128911768T>GCA383248614KCNJ5c.495T>G (p.Ile165Met)
11g.128911769A>CCA383248618KCNJ5c.496A>C (p.Ile166Leu)
gnomAD v4
11g.128911769A>GCA383248621KCNJ5c.496A>G (p.Ile166Val)
11g.128911769A>TCA383248625KCNJ5c.496A>T (p.Ile166Leu)
gnomAD v4
11g.128911770T>ACA383248635KCNJ5c.497T>A (p.Ile166Lys)
11g.128911770T>CCA230640475KCNJ5c.497T>C (p.Ile166Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128911770T>GCA383248639KCNJ5c.497T>G (p.Ile166Arg)
11g.128911770T=CA2008292696KCNJ5c.497T= (p.Ile166=)
11g.128911771A>CCA477703809KCNJ5c.498A>C (p.Ile166=)
11g.128911771A>GCA383248644KCNJ5c.498A>G (p.Ile166Met)
11g.128911771A>TCA477703808KCNJ5c.498A>T (p.Ile166=)
11g.128911772C>ACA383248649KCNJ5c.499C>A (p.Leu167Ile)
11g.128911772C>GCA383248652KCNJ5c.499C>G (p.Leu167Val)
11g.128911772C>TCA383248655KCNJ5c.499C>T (p.Leu167Phe)
gnomAD v4
11g.128911773T>ACA383248657KCNJ5c.500T>A (p.Leu167His)
11g.128911773T>CCA383248658KCNJ5c.500T>C (p.Leu167Pro)
11g.128911773T>GCA383248656KCNJ5c.500T>G (p.Leu167Arg)
11g.128911774C>ACA477703811KCNJ5c.501C>A (p.Leu167=)
COSMIC
11g.128911774C=CA2008292701KCNJ5c.501C= (p.Leu167=)
11g.128911774C>GCA6357885KCNJ5c.501C>G (p.Leu167=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911774C>TCA230640477KCNJ5c.501C>T (p.Leu167=)
dbSNP gnomAD v3 gnomAD v4
11g.128911775C>ACA383248663KCNJ5c.502C>A (p.Leu168Ile)
11g.128911775C=CA2008292704KCNJ5c.502C= (p.Leu168=)
11g.128911775C>GCA383248665KCNJ5c.502C>G (p.Leu168Val)
11g.128911775C>TCA6357886KCNJ5c.502C>T (p.Leu168Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911776T>ACA383248667KCNJ5c.503T>A (p.Leu168His)
dbSNP
11g.128911776T>CCA383248670KCNJ5c.503T>C (p.Leu168Pro)
11g.128911776T>GCA232154KCNJ5c.503T>G (p.Leu168Arg)
ClinVar dbSNP COSMIC
11g.128911776T=CA2008292708KCNJ5c.503T= (p.Leu168=)
11g.128911777C>ACA477703817KCNJ5c.504C>A (p.Leu168=)
11g.128911777C>GCA477703818KCNJ5c.504C>G (p.Leu168=)
11g.128911777C>TCA477703821KCNJ5c.504C>T (p.Leu168=)
11g.128911778T>ACA383248678KCNJ5c.505T>A (p.Leu169Met)
11g.128911778T>CCA477703822KCNJ5c.505T>C (p.Leu169=)
gnomAD v4
11g.128911778T>GCA383248680KCNJ5c.505T>G (p.Leu169Val)
11g.128911779T>ACA383248691KCNJ5c.506T>A (p.Leu169Ter)
11g.128911779T>CCA383248694KCNJ5c.506T>C (p.Leu169Ser)
ClinVar dbSNP
11g.128911779T>GCA383248697KCNJ5c.506T>G (p.Leu169Trp)
11g.128911780G>ACA477703827KCNJ5c.507G>A (p.Leu169=)
COSMIC
11g.128911780G>CCA383248701KCNJ5c.507G>C (p.Leu169Phe)
11g.128911780G=CA2008292713KCNJ5c.507G= (p.Leu169=)
11g.128911780G>TCA6357887KCNJ5c.507G>T (p.Leu169Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911781G>ACA383248709KCNJ5c.508G>A (p.Val170Ile)
11g.128911781G>CCA383248711KCNJ5c.508G>C (p.Val170Leu)
11g.128911781G>TCA383248713KCNJ5c.508G>T (p.Val170Phe)
11g.128911782T>ACA383248717KCNJ5c.509T>A (p.Val170Asp)
11g.128911782T>CCA383248719KCNJ5c.509T>C (p.Val170Ala)
gnomAD v4
11g.128911782T>GCA383248722KCNJ5c.509T>G (p.Val170Gly)
11g.128911783C>ACA477703831KCNJ5c.510C>A (p.Val170=)
11g.128911783C>GCA477703833KCNJ5c.510C>G (p.Val170=)
11g.128911783C>TCA477703832KCNJ5c.510C>T (p.Val170=)
11g.128911784C>ACA383248726KCNJ5c.511C>A (p.Gln171Lys)
dbSNP
11g.128911784C>GCA383248731KCNJ5c.511C>G (p.Gln171Glu)
11g.128911784C>TCA383248734KCNJ5c.511C>T (p.Gln171Ter)
11g.128911785A=CA2008292716KCNJ5c.512A= (p.Gln171=)
11g.128911785A>CCA6357888KCNJ5c.512A>C (p.Gln171Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911785A>GCA383248738KCNJ5c.512A>G (p.Gln171Arg)
11g.128911785A>TCA383248740KCNJ5c.512A>T (p.Gln171Leu)
11g.128911786G>ACA477703836KCNJ5c.513G>A (p.Gln171=)
11g.128911786G>CCA383248746KCNJ5c.513G>C (p.Gln171His)
gnomAD v4
11g.128911786G>TCA383248744KCNJ5c.513G>T (p.Gln171His)
11g.128911787G>ACA383248748KCNJ5c.514G>A (p.Ala172Thr)
11g.128911787G>CCA383248752KCNJ5c.514G>C (p.Ala172Pro)
11g.128911787G>TCA383248750KCNJ5c.514G>T (p.Ala172Ser)
11g.128911788C>ACA383248756KCNJ5c.515C>A (p.Ala172Asp)
11g.128911788C>GCA383248758KCNJ5c.515C>G (p.Ala172Gly)
11g.128911788C>TCA383248760KCNJ5c.515C>T (p.Ala172Val)
11g.128911789C>ACA477703841KCNJ5c.516C>A (p.Ala172=)
11g.128911789C>GCA477703844KCNJ5c.516C>G (p.Ala172=)
11g.128911789C>TCA477703843KCNJ5c.516C>T (p.Ala172=)
11g.128911790A=CA2008292719KCNJ5c.517A= (p.Ile173=)
11g.128911790A>CCA383248766KCNJ5c.517A>C (p.Ile173Leu)
11g.128911790A>GCA383248767KCNJ5c.517A>G (p.Ile173Val)
dbSNP
11g.128911790A>TCA383248770KCNJ5c.517A>T (p.Ile173Phe)
11g.128911791T>ACA383248773KCNJ5c.518T>A (p.Ile173Asn)
11g.128911791T>CCA383248775KCNJ5c.518T>C (p.Ile173Thr)
gnomAD v4
11g.128911791T>GCA383248778KCNJ5c.518T>G (p.Ile173Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128911791T=CA2008292723KCNJ5c.518T= (p.Ile173=)
11g.128911792C>ACA477703846KCNJ5c.519C>A (p.Ile173=)
gnomAD v4
11g.128911792C=CA2008292726KCNJ5c.519C= (p.Ile173=)
11g.128911792C>GCA383248786KCNJ5c.519C>G (p.Ile173Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128911792C>TCA230640479KCNJ5c.519C>T (p.Ile173=)
dbSNP gnomAD v4 COSMIC
11g.128911793C>ACA383248791KCNJ5c.520C>A (p.Leu174Met)
ClinVar dbSNP
11g.128911793C=CA2008292732KCNJ5c.520C= (p.Leu174=)
11g.128911793C>GCA383248795KCNJ5c.520C>G (p.Leu174Val)
11g.128911793C>TCA477703850KCNJ5c.520C>T (p.Leu174=)
11g.128911794T>ACA383248799KCNJ5c.521T>A (p.Leu174Gln)
11g.128911794T>CCA383248804KCNJ5c.521T>C (p.Leu174Pro)
11g.128911794T>GCA383248801KCNJ5c.521T>G (p.Leu174Arg)
11g.128911795G>ACA477703851KCNJ5c.522G>A (p.Leu174=)
11g.128911795G>CCA477703852KCNJ5c.522G>C (p.Leu174=)
11g.128911795G>TCA477703853KCNJ5c.522G>T (p.Leu174=)
11g.128911796G>ACA383248807KCNJ5c.523G>A (p.Gly175Ser)
11g.128911796G>CCA383248809KCNJ5c.523G>C (p.Gly175Arg)
11g.128911796G>TCA383248813KCNJ5c.523G>T (p.Gly175Cys)
11g.128911797G>ACA383248814KCNJ5c.524G>A (p.Gly175Asp)
dbSNP gnomAD v2 gnomAD v4
11g.128911797G>CCA383248816KCNJ5c.524G>C (p.Gly175Ala)
11g.128911797G=CA2008292736KCNJ5c.524G= (p.Gly175=)
11g.128911797G>TCA383248819KCNJ5c.524G>T (p.Gly175Val)
11g.128911798C>ACA477703856KCNJ5c.525C>A (p.Gly175=)
11g.128911798C=CA2008292739KCNJ5c.525C= (p.Gly175=)
11g.128911798C>GCA477703859KCNJ5c.525C>G (p.Gly175=)
11g.128911798C>TCA6357889KCNJ5c.525C>T (p.Gly175=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911799T>ACA383248830KCNJ5c.526T>A (p.Ser176Thr)
11g.128911799T>CCA383248832KCNJ5c.526T>C (p.Ser176Pro)
11g.128911799T>GCA383248834KCNJ5c.526T>G (p.Ser176Ala)
11g.128911799_128911800delinsTCCA2008292741KCNJ5c.526_527delinsTC (p.Ser176=)
11g.128911800C>ACA383248841KCNJ5c.527C>A (p.Ser176Tyr)
11g.128911800C>GCA383248838KCNJ5c.527C>G (p.Ser176Cys)
11g.128911800C>TCA383248843KCNJ5c.527C>T (p.Ser176Phe)
11g.128911801delCA6357890KCNJ5c.528del (p.Ile177SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911801C>ACA477703862KCNJ5c.528C>A (p.Ser176=)
11g.128911801C>GCA477703864KCNJ5c.528C>G (p.Ser176=)
11g.128911801C>TCA477703865KCNJ5c.528C>T (p.Ser176=)
gnomAD v4
11g.128911802A>CCA383248845KCNJ5c.529A>C (p.Ile177Leu)
11g.128911802A>GCA383248850KCNJ5c.529A>G (p.Ile177Val)
11g.128911802A>TCA383248852KCNJ5c.529A>T (p.Ile177Phe)
11g.128911803T>ACA383248856KCNJ5c.530T>A (p.Ile177Asn)
11g.128911803T>CCA383248860KCNJ5c.530T>C (p.Ile177Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128911803T>GCA383248861KCNJ5c.530T>G (p.Ile177Ser)
11g.128911803T=CA2008292742KCNJ5c.530T= (p.Ile177=)
11g.128911804C>ACA477703868KCNJ5c.531C>A (p.Ile177=)
11g.128911804C=CA2008292745KCNJ5c.531C= (p.Ile177=)
11g.128911804C>GCA383248865KCNJ5c.531C>G (p.Ile177Met)
11g.128911804C>TCA6357891KCNJ5c.531C>T (p.Ile177=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911805G>ACA6357892KCNJ5c.532G>A (p.Val178Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911805G>CCA383248872KCNJ5c.532G>C (p.Val178Leu)
gnomAD v4
11g.128911805G=CA2008292749KCNJ5c.532G= (p.Val178=)
11g.128911805G>TCA383248874KCNJ5c.532G>T (p.Val178Phe)
11g.128911806T>ACA383248882KCNJ5c.533T>A (p.Val178Asp)
11g.128911806T>CCA383248881KCNJ5c.533T>C (p.Val178Ala)
11g.128911806T>GCA383248878KCNJ5c.533T>G (p.Val178Gly)
11g.128911807C>ACA477703874KCNJ5c.534C>A (p.Val178=)
11g.128911807C>GCA477703875KCNJ5c.534C>G (p.Val178=)
11g.128911807C>TCA477703876KCNJ5c.534C>T (p.Val178=)
11g.128911808A=CA2008292753KCNJ5c.535A= (p.Asn179=)
11g.128911808A>CCA383248886KCNJ5c.535A>C (p.Asn179His)
11g.128911808A>GCA383248889KCNJ5c.535A>G (p.Asn179Asp)
dbSNP gnomAD v3 gnomAD v4
11g.128911808A>TCA383248894KCNJ5c.535A>T (p.Asn179Tyr)
11g.128911809A=CA2008292761KCNJ5c.536A= (p.Asn179=)
11g.128911809A>CCA383248898KCNJ5c.536A>C (p.Asn179Thr)
11g.128911809A>GCA6357893KCNJ5c.536A>G (p.Asn179Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911809A>TCA383248903KCNJ5c.536A>T (p.Asn179Ile)
11g.128911810T>ACA383248907KCNJ5c.537T>A (p.Asn179Lys)
11g.128911810T>CCA230640489KCNJ5c.537T>C (p.Asn179=)
dbSNP
11g.128911810T>GCA383248912KCNJ5c.537T>G (p.Asn179Lys)
11g.128911810T=CA2008292766KCNJ5c.537T= (p.Asn179=)
11g.128911811G>ACA383248917KCNJ5c.538G>A (p.Ala180Thr)
11g.128911811G>CCA383248918KCNJ5c.538G>C (p.Ala180Pro)
11g.128911811G>TCA383248922KCNJ5c.538G>T (p.Ala180Ser)
11g.128911812C>ACA383248929KCNJ5c.539C>A (p.Ala180Asp)
11g.128911812C=CA2008292770KCNJ5c.539C= (p.Ala180=)
11g.128911812C>GCA383248925KCNJ5c.539C>G (p.Ala180Gly)
11g.128911812C>TCA383248923KCNJ5c.539C>T (p.Ala180Val)
dbSNP gnomAD v4
11g.128911813C>ACA477703885KCNJ5c.540C>A (p.Ala180=)
11g.128911813C>GCA477703886KCNJ5c.540C>G (p.Ala180=)
gnomAD v4
11g.128911813C>TCA477703888KCNJ5c.540C>T (p.Ala180=)
gnomAD v4
11g.128911814T>ACA6357894KCNJ5c.541T>A (p.Phe181Ile)
dbSNP ExAC gnomAD v4
11g.128911814T>CCA383248934KCNJ5c.541T>C (p.Phe181Leu)
11g.128911814T>GCA383248936KCNJ5c.541T>G (p.Phe181Val)
11g.128911814T=CA2008292772KCNJ5c.541T= (p.Phe181=)
11g.128911815T>ACA383248940KCNJ5c.542T>A (p.Phe181Tyr)
11g.128911815T>CCA383248942KCNJ5c.542T>C (p.Phe181Ser)
11g.128911815T>GCA383248944KCNJ5c.542T>G (p.Phe181Cys)
11g.128911816C>ACA383248952KCNJ5c.543C>A (p.Phe181Leu)
11g.128911816C=CA2008292776KCNJ5c.543C= (p.Phe181=)
11g.128911816C>GCA383248949KCNJ5c.543C>G (p.Phe181Leu)
11g.128911816C>TCA6357895KCNJ5c.543C>T (p.Phe181=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911817A>CCA383248956KCNJ5c.544A>C (p.Met182Leu)
11g.128911817A>GCA383248958KCNJ5c.544A>G (p.Met182Val)
gnomAD v4
11g.128911817A>TCA383248960KCNJ5c.544A>T (p.Met182Leu)
gnomAD v4
11g.128911818T>ACA383248963KCNJ5c.545T>A (p.Met182Lys)
11g.128911818T>CCA383248966KCNJ5c.545T>C (p.Met182Thr)
dbSNP
11g.128911818T>GCA383248969KCNJ5c.545T>G (p.Met182Arg)
11g.128911818T=CA2008292780KCNJ5c.545T= (p.Met182=)
11g.128911819G>ACA383248974KCNJ5c.546G>A (p.Met182Ile)
11g.128911819G>CCA383248977KCNJ5c.546G>C (p.Met182Ile)
11g.128911819G=CA2008292783KCNJ5c.546G= (p.Met182=)
11g.128911819G>TCA6357896KCNJ5c.546G>T (p.Met182Ile)
ClinVar dbSNP ExAC gnomAD v4
11g.128911820G>ACA383248981KCNJ5c.547G>A (p.Val183Met)
gnomAD v4
11g.128911820G>CCA383248984KCNJ5c.547G>C (p.Val183Leu)
11g.128911820G=CA2008292785KCNJ5c.547G= (p.Val183=)
11g.128911820G>TCA230640493KCNJ5c.547G>T (p.Val183Leu)
dbSNP gnomAD v3 gnomAD v4
11g.128911821T>ACA383248989KCNJ5c.548T>A (p.Val183Glu)
11g.128911821T>CCA383248992KCNJ5c.548T>C (p.Val183Ala)
11g.128911821T>GCA383248995KCNJ5c.548T>G (p.Val183Gly)
11g.128911822G>ACA477703899KCNJ5c.549G>A (p.Val183=)
11g.128911822G>CCA477703900KCNJ5c.549G>C (p.Val183=)
11g.128911822G>TCA477703901KCNJ5c.549G>T (p.Val183=)
dbSNP
11g.128911823G>ACA383248996KCNJ5c.550G>A (p.Gly184Arg)
11g.128911823G>CCA383248997KCNJ5c.550G>C (p.Gly184Arg)
11g.128911823G>TCA383248998KCNJ5c.550G>T (p.Gly184Trp)
COSMIC
11g.128911824G>ACA383249000KCNJ5c.551G>A (p.Gly184Glu)
gnomAD v4
11g.128911824G>CCA383249001KCNJ5c.551G>C (p.Gly184Ala)
11g.128911824G>TCA383249003KCNJ5c.551G>T (p.Gly184Val)
gnomAD v4
11g.128911825G>ACA477703902KCNJ5c.552G>A (p.Gly184=)
11g.128911825G>CCA477703904KCNJ5c.552G>C (p.Gly184=)
11g.128911825G>TCA477703903KCNJ5c.552G>T (p.Gly184=)
gnomAD v4
11g.128911826T>ACA383249011KCNJ5c.553T>A (p.Cys185Ser)
11g.128911826T>CCA383249006KCNJ5c.553T>C (p.Cys185Arg)
11g.128911826T>GCA383249009KCNJ5c.553T>G (p.Cys185Gly)
11g.128911827G>ACA383249016KCNJ5c.554G>A (p.Cys185Tyr)
ClinVar
11g.128911827G>CCA383249019KCNJ5c.554G>C (p.Cys185Ser)
ClinVar gnomAD v4
11g.128911827G=CA2008292787KCNJ5c.554G= (p.Cys185=)
11g.128911827G>TCA6357897KCNJ5c.554G>T (p.Cys185Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911828C>ACA383249023KCNJ5c.555C>A (p.Cys185Ter)
dbSNP gnomAD v2 gnomAD v4
11g.128911828C=CA2008292792KCNJ5c.555C= (p.Cys185=)
11g.128911828C>GCA383249026KCNJ5c.555C>G (p.Cys185Trp)
11g.128911828C>TCA477703906KCNJ5c.555C>T (p.Cys185=)
gnomAD v4
11g.128911829A=CA2008292796KCNJ5c.556A= (p.Met186=)
11g.128911829A>CCA383249033KCNJ5c.556A>C (p.Met186Leu)
11g.128911829A>GCA383249030KCNJ5c.556A>G (p.Met186Val)
11g.128911829A>TCA383249028KCNJ5c.556A>T (p.Met186Leu)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched