Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.35805836_35805885delinsACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGTCA1621062574LHFPL5c.166_215delinsACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGT (p.Thr56=)
6g.35805837_35805885delCA566703525LHFPL5c.167_215del (p.Thr56SerfsTer13)
dbSNP gnomAD v2 gnomAD v4
6g.35805860C>ACA363784457LHFPL5c.190C>A (p.Leu64Ile)
c.22C>A (p.Leu8Ile)
6g.35805860C>GCA363784458LHFPL5c.190C>G (p.Leu64Val)
c.22C>G (p.Leu8Val)
6g.35805860C>TCA363784459LHFPL5c.190C>T (p.Leu64Phe)
c.22C>T (p.Leu8Phe)
6g.35805861T>ACA363784460LHFPL5c.191T>A (p.Leu64His)
c.23T>A (p.Leu8His)
6g.35805861T>CCA363784461LHFPL5c.191T>C (p.Leu64Pro)
c.23T>C (p.Leu8Pro)
6g.35805861T>GCA363784462LHFPL5c.191T>G (p.Leu64Arg)
c.23T>G (p.Leu8Arg)
6g.35805862T>ACA450125609LHFPL5c.192T>A (p.Leu64=)
c.24T>A (p.Leu8=)
6g.35805862T>CCA450125610LHFPL5c.192T>C (p.Leu64=)
c.24T>C (p.Leu8=)
6g.35805862T>GCA450125611LHFPL5c.192T>G (p.Leu64=)
c.24T>G (p.Leu8=)
6g.35805863T>ACA363784463LHFPL5c.193T>A (p.Phe65Ile)
c.25T>A (p.Phe9Ile)
6g.35805863T>CCA363784464LHFPL5c.193T>C (p.Phe65Leu)
c.25T>C (p.Phe9Leu)
6g.35805863T>GCA363784465LHFPL5c.193T>G (p.Phe65Val)
c.25T>G (p.Phe9Val)
6g.35805864T>ACA363784466LHFPL5c.194T>A (p.Phe65Tyr)
c.26T>A (p.Phe9Tyr)
6g.35805864T>CCA363784467LHFPL5c.194T>C (p.Phe65Ser)
c.26T>C (p.Phe9Ser)
6g.35805864T>GCA363784468LHFPL5c.194T>G (p.Phe65Cys)
c.26T>G (p.Phe9Cys)
6g.35805865C>ACA363784469LHFPL5c.195C>A (p.Phe65Leu)
c.27C>A (p.Phe9Leu)
6g.35805865C=CA1621062585LHFPL5c.195C= (p.Phe65=)
c.27C= (p.Phe9=)
6g.35805865C>GCA363784470LHFPL5c.195C>G (p.Phe65Leu)
c.27C>G (p.Phe9Leu)
COSMIC
6g.35805865C>TCA137307502LHFPL5c.195C>T (p.Phe65=)
c.27C>T (p.Phe9=)
dbSNP gnomAD v4
6g.35805866T>ACA363784472LHFPL5c.196T>A (p.Ser66Thr)
c.28T>A (p.Ser10Thr)
6g.35805866T>CCA363784473LHFPL5c.196T>C (p.Ser66Pro)
c.28T>C (p.Ser10Pro)
6g.35805866T>GCA363784471LHFPL5c.196T>G (p.Ser66Ala)
c.28T>G (p.Ser10Ala)
6g.35805867C>ACA363784474LHFPL5c.197C>A (p.Ser66Tyr)
c.29C>A (p.Ser10Tyr)
6g.35805867C=CA1621062586LHFPL5c.197C= (p.Ser66=)
c.29C= (p.Ser10=)
6g.35805867C>GCA363784475LHFPL5c.197C>G (p.Ser66Cys)
c.29C>G (p.Ser10Cys)
6g.35805867C>TCA363784476LHFPL5c.197C>T (p.Ser66Phe)
c.29C>T (p.Ser10Phe)
dbSNP gnomAD v4 COSMIC
6g.35805868C>ACA450125612LHFPL5c.198C>A (p.Ser66=)
c.30C>A (p.Ser10=)
gnomAD v4
6g.35805868C>GCA450125613LHFPL5c.198C>G (p.Ser66=)
c.30C>G (p.Ser10=)
6g.35805868C>TCA450125614LHFPL5c.198C>T (p.Ser66=)
c.30C>T (p.Ser10=)
6g.35805869T>ACA363784477LHFPL5c.199T>A (p.Tyr67Asn)
c.31T>A (p.Tyr11Asn)
6g.35805869T>CCA363784478LHFPL5c.199T>C (p.Tyr67His)
c.31T>C (p.Tyr11His)
6g.35805869T>GCA363784479LHFPL5c.199T>G (p.Tyr67Asp)
c.31T>G (p.Tyr11Asp)
6g.35805870A=CA1621062587LHFPL5c.200A= (p.Tyr67=)
c.32A= (p.Tyr11=)
6g.35805870A>CCA363784480LHFPL5c.200A>C (p.Tyr67Ser)
c.32A>C (p.Tyr11Ser)
6g.35805870A>GCA3774353LHFPL5c.200A>G (p.Tyr67Cys)
c.32A>G (p.Tyr11Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805870A>TCA363784481LHFPL5c.200A>T (p.Tyr67Phe)
c.32A>T (p.Tyr11Phe)
6g.35805871C>ACA363784482LHFPL5c.201C>A (p.Tyr67Ter)
c.33C>A (p.Tyr11Ter)
6g.35805871C>GCA363784483LHFPL5c.201C>G (p.Tyr67Ter)
c.33C>G (p.Tyr11Ter)
6g.35805871C>TCA450125615LHFPL5c.201C>T (p.Tyr67=)
c.33C>T (p.Tyr11=)
6g.35805872T>ACA3774354LHFPL5c.202T>A (p.Cys68Ser)
c.34T>A (p.Cys12Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805872T>CCA363784485LHFPL5c.202T>C (p.Cys68Arg)
c.34T>C (p.Cys12Arg)
6g.35805872T>GCA363784484LHFPL5c.202T>G (p.Cys68Gly)
c.34T>G (p.Cys12Gly)
6g.35805872T=CA1621062588LHFPL5c.202T= (p.Cys68=)
c.34T= (p.Cys12=)
6g.35805873G>ACA363784486LHFPL5c.203G>A (p.Cys68Tyr)
c.35G>A (p.Cys12Tyr)
dbSNP gnomAD v4
6g.35805873G>CCA363784487LHFPL5c.203G>C (p.Cys68Ser)
c.35G>C (p.Cys12Ser)
6g.35805873G=CA1621062589LHFPL5c.203G= (p.Cys68=)
c.35G= (p.Cys12=)
6g.35805873G>TCA363784488LHFPL5c.203G>T (p.Cys68Phe)
c.35G>T (p.Cys12Phe)
6g.35805874C>ACA3774356LHFPL5c.204C>A (p.Cys68Ter)
c.36C>A (p.Cys12Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805874C=CA1621062590LHFPL5c.204C= (p.Cys68=)
c.36C= (p.Cys12=)
6g.35805874C>GCA363784489LHFPL5c.204C>G (p.Cys68Trp)
c.36C>G (p.Cys12Trp)
6g.35805874C>TCA3774355LHFPL5c.204C>T (p.Cys68=)
c.36C>T (p.Cys12=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805875G>ACA3774357LHFPL5c.205G>A (p.Val69Met)
c.37G>A (p.Val13Met)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805875G>CCA363784490LHFPL5c.205G>C (p.Val69Leu)
c.37G>C (p.Val13Leu)
6g.35805875G=CA1621062591LHFPL5c.205G= (p.Val69=)
c.37G= (p.Val13=)
6g.35805875G>TCA363784491LHFPL5c.205G>T (p.Val69Leu)
c.37G>T (p.Val13Leu)
6g.35805876T>ACA363784492LHFPL5c.206T>A (p.Val69Glu)
c.38T>A (p.Val13Glu)
6g.35805876T>CCA10621985LHFPL5c.206T>C (p.Val69Ala)
c.38T>C (p.Val13Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35805876T>GCA363784493LHFPL5c.206T>G (p.Val69Gly)
c.38T>G (p.Val13Gly)
6g.35805876T=CA1621062592LHFPL5c.206T= (p.Val69=)
c.38T= (p.Val13=)
6g.35805877G>ACA450125616LHFPL5c.207G>A (p.Val69=)
c.39G>A (p.Val13=)
6g.35805877G>CCA450125617LHFPL5c.207G>C (p.Val69=)
c.39G>C (p.Val13=)
6g.35805877G>TCA450125618LHFPL5c.207G>T (p.Val69=)
c.39G>T (p.Val13=)
dbSNP
6g.35805878G>ACA3774358LHFPL5c.208G>A (p.Gly70Ser)
c.40G>A (p.Gly14Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805878G>CCA363784495LHFPL5c.208G>C (p.Gly70Arg)
c.40G>C (p.Gly14Arg)
6g.35805878G=CA1621062593LHFPL5c.208G= (p.Gly70=)
c.40G= (p.Gly14=)
6g.35805878G>TCA363784494LHFPL5c.208G>T (p.Gly70Cys)
c.40G>T (p.Gly14Cys)
gnomAD v4
6g.35805879G>ACA363784496LHFPL5c.209G>A (p.Gly70Asp)
c.41G>A (p.Gly14Asp)
dbSNP
6g.35805879G>CCA363784498LHFPL5c.209G>C (p.Gly70Ala)
c.41G>C (p.Gly14Ala)
dbSNP
6g.35805879G=CA1621062594LHFPL5c.209G= (p.Gly70=)
c.41G= (p.Gly14=)
6g.35805879G>TCA363784497LHFPL5c.209G>T (p.Gly70Val)
c.41G>T (p.Gly14Val)
6g.35805879_35805880delCA2678432735LHFPL5c.209_210del (p.Gly70GlufsTer22)
c.41_42del (p.Gly14GlufsTer22)
gnomAD v4
6g.35805880T>ACA450125619LHFPL5c.210T>A (p.Gly70=)
c.42T>A (p.Gly14=)
6g.35805880T>CCA450125620LHFPL5c.210T>C (p.Gly70=)
c.42T>C (p.Gly14=)
6g.35805880T>GCA450125621LHFPL5c.210T>G (p.Gly70=)
c.42T>G (p.Gly14=)
6g.35805881A>CCA363784499LHFPL5c.211A>C (p.Asn71His)
c.43A>C (p.Asn15His)
6g.35805881A>GCA363784500LHFPL5c.211A>G (p.Asn71Asp)
c.43A>G (p.Asn15Asp)
6g.35805881A>TCA363784501LHFPL5c.211A>T (p.Asn71Tyr)
c.43A>T (p.Asn15Tyr)
6g.35805881_35805882dupCA2678432736LHFPL5c.211_212dup (p.Asn71LysfsTer15)
c.43_44dup (p.Asn15LysfsTer15)
gnomAD v4
6g.35805882A=CA1621062595LHFPL5c.212A= (p.Asn71=)
c.44A= (p.Asn15=)
6g.35805882A>CCA363784502LHFPL5c.212A>C (p.Asn71Thr)
c.44A>C (p.Asn15Thr)
6g.35805882A>GCA3774359LHFPL5c.212A>G (p.Asn71Ser)
c.44A>G (p.Asn15Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805882A>TCA363784503LHFPL5c.212A>T (p.Asn71Ile)
c.44A>T (p.Asn15Ile)
6g.35805882_35805895delCA2678432737LHFPL5c.212_225del (p.Asn71ArgfsTer17)
c.44_57del (p.Asn15ArgfsTer17)
gnomAD v4
6g.35805883C>ACA363784504LHFPL5c.213C>A (p.Asn71Lys)
c.45C>A (p.Asn15Lys)
6g.35805883C=CA1621062596LHFPL5c.213C= (p.Asn71=)
c.45C= (p.Asn15=)
6g.35805883C>GCA363784505LHFPL5c.213C>G (p.Asn71Lys)
c.45C>G (p.Asn15Lys)
6g.35805883C>TCA450125622LHFPL5c.213C>T (p.Asn71=)
c.45C>T (p.Asn15=)
dbSNP gnomAD v4 COSMIC
6g.35805884G>ACA176570LHFPL5c.214G>A (p.Val72Met)
c.46G>A (p.Val16Met)
ClinVar dbSNP gnomAD v4
6g.35805884G>CCA363784506LHFPL5c.214G>C (p.Val72Leu)
c.46G>C (p.Val16Leu)
6g.35805884G=CA1621062597LHFPL5c.214G= (p.Val72=)
c.46G= (p.Val16=)
6g.35805884G>TCA363784507LHFPL5c.214G>T (p.Val72Leu)
c.46G>T (p.Val16Leu)
6g.35805885T>ACA363784510LHFPL5c.215T>A (p.Val72Glu)
c.47T>A (p.Val16Glu)
6g.35805885T>CCA363784508LHFPL5c.215T>C (p.Val72Ala)
c.47T>C (p.Val16Ala)
6g.35805885T>GCA363784509LHFPL5c.215T>G (p.Val72Gly)
c.47T>G (p.Val16Gly)
6g.35805886G>ACA450125623LHFPL5c.216G>A (p.Val72=)
c.48G>A (p.Val16=)
6g.35805886G>CCA450125624LHFPL5c.216G>C (p.Val72=)
c.48G>C (p.Val16=)
6g.35805886G>TCA450125625LHFPL5c.216G>T (p.Val72=)
c.48G>T (p.Val16=)
6g.35805887C>ACA363784511LHFPL5c.217C>A (p.Leu73Met)
c.49C>A (p.Leu17Met)
COSMIC
6g.35805887C>GCA363784512LHFPL5c.217C>G (p.Leu73Val)
c.49C>G (p.Leu17Val)
6g.35805887C>TCA450125626LHFPL5c.217C>T (p.Leu73=)
c.49C>T (p.Leu17=)
6g.35805888T>ACA363784513LHFPL5c.218T>A (p.Leu73Gln)
c.50T>A (p.Leu17Gln)
6g.35805888T>CCA363784514LHFPL5c.218T>C (p.Leu73Pro)
c.50T>C (p.Leu17Pro)
gnomAD v4
6g.35805888T>GCA363784515LHFPL5c.218T>G (p.Leu73Arg)
c.50T>G (p.Leu17Arg)
6g.35805889G>ACA450125627LHFPL5c.219G>A (p.Leu73=)
c.51G>A (p.Leu17=)
6g.35805889G>CCA450125628LHFPL5c.219G>C (p.Leu73=)
c.51G>C (p.Leu17=)
6g.35805889G>TCA450125629LHFPL5c.219G>T (p.Leu73=)
c.51G>T (p.Leu17=)
6g.35805890T>ACA363784516LHFPL5c.220T>A (p.Ser74Thr)
c.52T>A (p.Ser18Thr)
6g.35805890T>CCA363784517LHFPL5c.220T>C (p.Ser74Pro)
c.52T>C (p.Ser18Pro)
6g.35805890T>GCA363784518LHFPL5c.220T>G (p.Ser74Ala)
c.52T>G (p.Ser18Ala)
6g.35805890_35805891delinsTCCA1621062598LHFPL5c.220_221delinsTC (p.Ser74=)
c.52_53delinsTC (p.Ser18=)
6g.35805890_35805891dupCA2678432738LHFPL5c.220_221dup (p.Ser75ProfsTer11)
c.52_53dup (p.Ser19ProfsTer11)
gnomAD v4
6g.35805891C>ACA363784519LHFPL5c.221C>A (p.Ser74Tyr)
c.53C>A (p.Ser18Tyr)
6g.35805891C=CA1621062599LHFPL5c.221C= (p.Ser74=)
c.53C= (p.Ser18=)
6g.35805891C>GCA363784520LHFPL5c.221C>G (p.Ser74Cys)
c.53C>G (p.Ser18Cys)
6g.35805891C>TCA137307531LHFPL5c.221C>T (p.Ser74Phe)
c.53C>T (p.Ser18Phe)
dbSNP gnomAD v4
6g.35805892delCA566703526LHFPL5c.222del (p.Ser75ProfsTer10)
c.54del (p.Ser19ProfsTer10)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35805892C>ACA450125631LHFPL5c.222C>A (p.Ser74=)
c.54C>A (p.Ser18=)
6g.35805892C>GCA450125632LHFPL5c.222C>G (p.Ser74=)
c.54C>G (p.Ser18=)
6g.35805892C>TCA450125630LHFPL5c.222C>T (p.Ser74=)
c.54C>T (p.Ser18=)
gnomAD v4
6g.35805893T>ACA363784522LHFPL5c.223T>A (p.Ser75Thr)
c.55T>A (p.Ser19Thr)
6g.35805893T>CCA363784523LHFPL5c.223T>C (p.Ser75Pro)
c.55T>C (p.Ser19Pro)
gnomAD v4
6g.35805893T>GCA363784521LHFPL5c.223T>G (p.Ser75Ala)
c.55T>G (p.Ser19Ala)
6g.35805894C>ACA363784524LHFPL5c.224C>A (p.Ser75Tyr)
c.56C>A (p.Ser19Tyr)
6g.35805894C>GCA363784525LHFPL5c.224C>G (p.Ser75Cys)
c.56C>G (p.Ser19Cys)
6g.35805894C>TCA363784526LHFPL5c.224C>T (p.Ser75Phe)
c.56C>T (p.Ser19Phe)
COSMIC
6g.35805895C>ACA450125634LHFPL5c.225C>A (p.Ser75=)
c.57C>A (p.Ser19=)
6g.35805895C=CA1621062600LHFPL5c.225C= (p.Ser75=)
c.57C= (p.Ser19=)
6g.35805895C>GCA450125635LHFPL5c.225C>G (p.Ser75=)
c.57C>G (p.Ser19=)
dbSNP gnomAD v4
6g.35805895C>TCA3774360LHFPL5c.225C>T (p.Ser75=)
c.57C>T (p.Ser19=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805896G>ACA137307537LHFPL5c.226G>A (p.Glu76Lys)
c.58G>A (p.Glu20Lys)
dbSNP COSMIC
6g.35805896G>CCA363784527LHFPL5c.226G>C (p.Glu76Gln)
c.58G>C (p.Glu20Gln)
6g.35805896G=CA1621062601LHFPL5c.226G= (p.Glu76=)
c.58G= (p.Glu20=)
6g.35805896G>TCA363784528LHFPL5c.226G>T (p.Glu76Ter)
c.58G>T (p.Glu20Ter)
6g.35805897A>CCA363784529LHFPL5c.227A>C (p.Glu76Ala)
c.59A>C (p.Glu20Ala)
6g.35805897A>GCA363784530LHFPL5c.227A>G (p.Glu76Gly)
c.59A>G (p.Glu20Gly)
6g.35805897A>TCA363784531LHFPL5c.227A>T (p.Glu76Val)
c.59A>T (p.Glu20Val)
6g.35805898G>ACA450125640LHFPL5c.228G>A (p.Glu76=)
c.60G>A (p.Glu20=)
6g.35805898G>CCA363784532LHFPL5c.228G>C (p.Glu76Asp)
c.60G>C (p.Glu20Asp)
6g.35805898G>TCA363784533LHFPL5c.228G>T (p.Glu76Asp)
c.60G>T (p.Glu20Asp)
6g.35805899C>ACA363784535LHFPL5c.229C>A (p.Leu77Ile)
c.61C>A (p.Leu21Ile)
dbSNP gnomAD v2 gnomAD v4
6g.35805899C=CA1621062602LHFPL5c.229C= (p.Leu77=)
c.61C= (p.Leu21=)
6g.35805899C>GCA363784536LHFPL5c.229C>G (p.Leu77Val)
c.61C>G (p.Leu21Val)
6g.35805899C>TCA363784534LHFPL5c.229C>T (p.Leu77Phe)
c.61C>T (p.Leu21Phe)
dbSNP gnomAD v2 gnomAD v4
6g.35805900T>ACA363784537LHFPL5c.230T>A (p.Leu77His)
c.62T>A (p.Leu21His)
6g.35805900T>CCA363784538LHFPL5c.230T>C (p.Leu77Pro)
c.62T>C (p.Leu21Pro)
6g.35805900T>GCA363784539LHFPL5c.230T>G (p.Leu77Arg)
c.62T>G (p.Leu21Arg)
6g.35805901C>ACA450125314LHFPL5c.231C>A (p.Leu77=)
c.63C>A (p.Leu21=)
6g.35805901C=CA1621062603LHFPL5c.231C= (p.Leu77=)
c.63C= (p.Leu21=)
6g.35805901C>GCA3774361LHFPL5c.231C>G (p.Leu77=)
c.63C>G (p.Leu21=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805901C>TCA450125315LHFPL5c.231C>T (p.Leu77=)
c.63C>T (p.Leu21=)
gnomAD v4
6g.35805902A>CCA363784540LHFPL5c.232A>C (p.Ile78Leu)
c.64A>C (p.Ile22Leu)
6g.35805902A>GCA363784541LHFPL5c.232A>G (p.Ile78Val)
c.64A>G (p.Ile22Val)
6g.35805902A>TCA363784542LHFPL5c.232A>T (p.Ile78Phe)
c.64A>T (p.Ile22Phe)
6g.35805903T>ACA363784543LHFPL5c.233T>A (p.Ile78Asn)
c.65T>A (p.Ile22Asn)
6g.35805903T>CCA363784545LHFPL5c.233T>C (p.Ile78Thr)
c.65T>C (p.Ile22Thr)
gnomAD v4
6g.35805903T>GCA363784544LHFPL5c.233T>G (p.Ile78Ser)
c.65T>G (p.Ile22Ser)
6g.35805904C>ACA450125316LHFPL5c.234C>A (p.Ile78=)
c.66C>A (p.Ile22=)
6g.35805904C>GCA363784546LHFPL5c.234C>G (p.Ile78Met)
c.66C>G (p.Ile22Met)
6g.35805904C>TCA450125317LHFPL5c.234C>T (p.Ile78=)
c.66C>T (p.Ile22=)
6g.35805905T>ACA363784547LHFPL5c.235T>A (p.Cys79Ser)
c.67T>A (p.Cys23Ser)
6g.35805905T>CCA363784548LHFPL5c.235T>C (p.Cys79Arg)
c.67T>C (p.Cys23Arg)
6g.35805905T>GCA363784549LHFPL5c.235T>G (p.Cys79Gly)
c.67T>G (p.Cys23Gly)
6g.35805906G>ACA363784552LHFPL5c.236G>A (p.Cys79Tyr)
c.68G>A (p.Cys23Tyr)
6g.35805906G>CCA363784551LHFPL5c.236G>C (p.Cys79Ser)
c.68G>C (p.Cys23Ser)
6g.35805906G>TCA363784550LHFPL5c.236G>T (p.Cys79Phe)
c.68G>T (p.Cys23Phe)
6g.35805907C>ACA363784553LHFPL5c.237C>A (p.Cys79Ter)
c.69C>A (p.Cys23Ter)
6g.35805907C>GCA363784554LHFPL5c.237C>G (p.Cys79Trp)
c.69C>G (p.Cys23Trp)
6g.35805907C>TCA450125318LHFPL5c.237C>T (p.Cys79=)
c.69C>T (p.Cys23=)
6g.35805908A=CA1621062604LHFPL5c.238A= (p.Lys80=)
c.70A= (p.Lys24=)
6g.35805908A>CCA363784555LHFPL5c.238A>C (p.Lys80Gln)
c.70A>C (p.Lys24Gln)
6g.35805908A>GCA363784557LHFPL5c.238A>G (p.Lys80Glu)
c.70A>G (p.Lys24Glu)
dbSNP
6g.35805908A>TCA363784556LHFPL5c.238A>T (p.Lys80Ter)
c.70A>T (p.Lys24Ter)
6g.35805909A=CA1621062605LHFPL5c.239A= (p.Lys80=)
c.71A= (p.Lys24=)
6g.35805909A>CCA363784558LHFPL5c.239A>C (p.Lys80Thr)
c.71A>C (p.Lys24Thr)
6g.35805909A>GCA363784559LHFPL5c.239A>G (p.Lys80Arg)
c.71A>G (p.Lys24Arg)
dbSNP gnomAD v3 gnomAD v4
6g.35805909A>TCA363784560LHFPL5c.239A>T (p.Lys80Met)
c.71A>T (p.Lys24Met)
6g.35805910G>ACA450125319LHFPL5c.240G>A (p.Lys80=)
c.72G>A (p.Lys24=)
6g.35805910G>CCA363784561LHFPL5c.240G>C (p.Lys80Asn)
c.72G>C (p.Lys24Asn)
gnomAD v4
6g.35805910G>TCA363784562LHFPL5c.240G>T (p.Lys80Asn)
c.72G>T (p.Lys24Asn)
6g.35805911G>ACA363784563LHFPL5c.241G>A (p.Gly81Ser)
c.73G>A (p.Gly25Ser)
6g.35805911G>CCA363784564LHFPL5c.241G>C (p.Gly81Arg)
c.73G>C (p.Gly25Arg)
6g.35805911G>TCA363784565LHFPL5c.241G>T (p.Gly81Cys)
c.73G>T (p.Gly25Cys)
6g.35805912G>ACA363784566LHFPL5c.242G>A (p.Gly81Asp)
c.74G>A (p.Gly25Asp)
COSMIC
6g.35805912G>CCA363784567LHFPL5c.242G>C (p.Gly81Ala)
c.74G>C (p.Gly25Ala)
6g.35805912G>TCA363784568LHFPL5c.242G>T (p.Gly81Val)
c.74G>T (p.Gly25Val)
COSMIC
6g.35805913C>ACA3774362LHFPL5c.243C>A (p.Gly81=)
c.75C>A (p.Gly25=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805913C=CA1621062606LHFPL5c.243C= (p.Gly81=)
c.75C= (p.Gly25=)
6g.35805913C>GCA450125321LHFPL5c.243C>G (p.Gly81=)
c.75C>G (p.Gly25=)
6g.35805913C>TCA450125320LHFPL5c.243C>T (p.Gly81=)
c.75C>T (p.Gly25=)
dbSNP gnomAD v2 gnomAD v4
6g.35805914G>ACA3774363LHFPL5c.244G>A (p.Gly82Ser)
c.76G>A (p.Gly26Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805914G>CCA3774364LHFPL5c.244G>C (p.Gly82Arg)
c.76G>C (p.Gly26Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805914G=CA1621062607LHFPL5c.244G= (p.Gly82=)
c.76G= (p.Gly26=)
6g.35805914G>TCA363784569LHFPL5c.244G>T (p.Gly82Cys)
c.76G>T (p.Gly26Cys)
6g.35805915G>ACA363784570LHFPL5c.245G>A (p.Gly82Asp)
c.77G>A (p.Gly26Asp)
COSMIC
6g.35805915G>CCA363784571LHFPL5c.245G>C (p.Gly82Ala)
c.77G>C (p.Gly26Ala)
gnomAD v4
6g.35805915G=CA1621062609LHFPL5c.245G= (p.Gly82=)
c.77G= (p.Gly26=)
6g.35805915G>TCA363784572LHFPL5c.245G>T (p.Gly82Val)
c.77G>T (p.Gly26Val)
dbSNP gnomAD v4
6g.35805915_35805916delinsGCCA1621062608LHFPL5c.245_246delinsGC (p.Gly82=)
c.77_78delinsGC (p.Gly26=)
6g.35805916C>ACA450125322LHFPL5c.246C>A (p.Gly82=)
c.78C>A (p.Gly26=)
6g.35805916C>GCA450125323LHFPL5c.246C>G (p.Gly82=)
c.78C>G (p.Gly26=)
6g.35805916C>TCA450125324LHFPL5c.246C>T (p.Gly82=)
c.78C>T (p.Gly26=)
gnomAD v4
6g.35805920dupCA2770639085LHFPL5c.250dup (p.Leu84ProfsTer9)
c.82dup (p.Leu28ProfsTer9)
6g.35805920delCA3774365LHFPL5c.250del (p.Leu84Ter)
c.82del (p.Leu28Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805917C>ACA363784573LHFPL5c.247C>A (p.Pro83Thr)
c.79C>A (p.Pro27Thr)
6g.35805917C>GCA363784574LHFPL5c.247C>G (p.Pro83Ala)
c.79C>G (p.Pro27Ala)
6g.35805917C>TCA363784575LHFPL5c.247C>T (p.Pro83Ser)
c.79C>T (p.Pro27Ser)
6g.35805918C>ACA363784576LHFPL5c.248C>A (p.Pro83His)
c.80C>A (p.Pro27His)
6g.35805918C>GCA363784577LHFPL5c.248C>G (p.Pro83Arg)
c.80C>G (p.Pro27Arg)
gnomAD v4
6g.35805918C>TCA363784578LHFPL5c.248C>T (p.Pro83Leu)
c.80C>T (p.Pro27Leu)
ClinVar gnomAD v4
6g.35805919C>ACA450125325LHFPL5c.249C>A (p.Pro83=)
c.81C>A (p.Pro27=)
6g.35805919C=CA1621062610LHFPL5c.249C= (p.Pro83=)
c.81C= (p.Pro27=)
6g.35805919C>GCA450125326LHFPL5c.249C>G (p.Pro83=)
c.81C>G (p.Pro27=)
6g.35805919C>TCA137307545LHFPL5c.249C>T (p.Pro83=)
c.81C>T (p.Pro27=)
dbSNP gnomAD v4 COSMIC
6g.35805920C>ACA363784580LHFPL5c.250C>A (p.Leu84Ile)
c.82C>A (p.Leu28Ile)
6g.35805920C>GCA363784579LHFPL5c.250C>G (p.Leu84Val)
c.82C>G (p.Leu28Val)
6g.35805920C>TCA450125327LHFPL5c.250C>T (p.Leu84=)
c.82C>T (p.Leu28=)
6g.35805921T>ACA363784581LHFPL5c.251T>A (p.Leu84Gln)
c.83T>A (p.Leu28Gln)
6g.35805921T>CCA363784582LHFPL5c.251T>C (p.Leu84Pro)
c.83T>C (p.Leu28Pro)
6g.35805921T>GCA363784583LHFPL5c.251T>G (p.Leu84Arg)
c.83T>G (p.Leu28Arg)
6g.35805922A=CA1621062611LHFPL5c.252A= (p.Leu84=)
c.84A= (p.Leu28=)
6g.35805922A>CCA450125328LHFPL5c.252A>C (p.Leu84=)
c.84A>C (p.Leu28=)
dbSNP gnomAD v3 gnomAD v4
6g.35805922A>GCA450125329LHFPL5c.252A>G (p.Leu84=)
c.84A>G (p.Leu28=)
6g.35805922A>TCA450125330LHFPL5c.252A>T (p.Leu84=)
c.84A>T (p.Leu28=)
6g.35805923delCA2678432739LHFPL5c.253del (p.Asp85ThrfsTer?)
c.85del (p.Asp29ThrfsTer?)
gnomAD v4
6g.35805923G>ACA363784584LHFPL5c.253G>A (p.Asp85Asn)
c.85G>A (p.Asp29Asn)
6g.35805923G>CCA363784585LHFPL5c.253G>C (p.Asp85His)
c.85G>C (p.Asp29His)
6g.35805923G>TCA363784586LHFPL5c.253G>T (p.Asp85Tyr)
c.85G>T (p.Asp29Tyr)
6g.35805924A=CA1621062612LHFPL5c.254A= (p.Asp85=)
c.86A= (p.Asp29=)
6g.35805924A>CCA363784589LHFPL5c.254A>C (p.Asp85Ala)
c.86A>C (p.Asp29Ala)
6g.35805924A>GCA363784587LHFPL5c.254A>G (p.Asp85Gly)
c.86A>G (p.Asp29Gly)
dbSNP gnomAD v3 gnomAD v4
6g.35805924A>TCA363784588LHFPL5c.254A>T (p.Asp85Val)
c.86A>T (p.Asp29Val)
6g.35805925C>ACA363784590LHFPL5c.255C>A (p.Asp85Glu)
c.87C>A (p.Asp29Glu)
6g.35805925C>GCA363784591LHFPL5c.255C>G (p.Asp85Glu)
c.87C>G (p.Asp29Glu)
6g.35805925C>TCA450125331LHFPL5c.255C>T (p.Asp85=)
c.87C>T (p.Asp29=)
gnomAD v4
6g.35805926T>ACA363784592LHFPL5c.256T>A (p.Phe86Ile)
c.88T>A (p.Phe30Ile)
6g.35805926T>CCA363784593LHFPL5c.256T>C (p.Phe86Leu)
c.88T>C (p.Phe30Leu)
6g.35805926T>GCA363784594LHFPL5c.256T>G (p.Phe86Val)
c.88T>G (p.Phe30Val)
6g.35805927T>ACA363784595LHFPL5c.257T>A (p.Phe86Tyr)
c.89T>A (p.Phe30Tyr)
6g.35805927T>CCA363784597LHFPL5c.257T>C (p.Phe86Ser)
c.89T>C (p.Phe30Ser)
COSMIC
6g.35805927T>GCA363784596LHFPL5c.257T>G (p.Phe86Cys)
c.89T>G (p.Phe30Cys)
6g.35805927_35805930delinsTCTCCA1621062613LHFPL5c.257_260delinsTCTC (p.Phe86=)
c.89_92delinsTCTC (p.Phe30=)
6g.35805928C>ACA363784598LHFPL5c.258C>A (p.Phe86Leu)
c.90C>A (p.Phe30Leu)
gnomAD v4
6g.35805928C>GCA363784599LHFPL5c.258C>G (p.Phe86Leu)
c.90C>G (p.Phe30Leu)
6g.35805928C>TCA450125332LHFPL5c.258C>T (p.Phe86=)
c.90C>T (p.Phe30=)
6g.35805928_35805929delinsCTCA1621062614LHFPL5c.258_259delinsCT (p.Phe86=)
c.90_91delinsCT (p.Phe30=)
6g.35805932_35805934delCA3774366LHFPL5c.262_264del (p.Ser88del)
c.94_96del (p.Ser32del)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805929delCA137307549LHFPL5c.259del (p.Ser87ProfsTer?)
c.91del (p.Ser31ProfsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.35805929T>ACA363784600LHFPL5c.259T>A (p.Ser87Thr)
c.91T>A (p.Ser31Thr)
6g.35805929T>CCA363784601LHFPL5c.259T>C (p.Ser87Pro)
c.91T>C (p.Ser31Pro)
gnomAD v4
6g.35805929T>GCA363784602LHFPL5c.259T>G (p.Ser87Ala)
c.91T>G (p.Ser31Ala)
gnomAD v4
6g.35805930C>ACA363784603LHFPL5c.260C>A (p.Ser87Tyr)
c.92C>A (p.Ser31Tyr)
6g.35805930C=CA1621062615LHFPL5c.260C= (p.Ser87=)
c.92C= (p.Ser31=)
6g.35805930C>GCA363784604LHFPL5c.260C>G (p.Ser87Cys)
c.92C>G (p.Ser31Cys)
6g.35805930C>TCA137307550LHFPL5c.260C>T (p.Ser87Phe)
c.92C>T (p.Ser31Phe)
dbSNP gnomAD v4 COSMIC
6g.35805931C>ACA450125333LHFPL5c.261C>A (p.Ser87=)
c.93C>A (p.Ser31=)
6g.35805931C>GCA450125334LHFPL5c.261C>G (p.Ser87=)
c.93C>G (p.Ser31=)
6g.35805931C>TCA450125335LHFPL5c.261C>T (p.Ser87=)
c.93C>T (p.Ser31=)
6g.35805932T>ACA363784605LHFPL5c.262T>A (p.Ser88Thr)
c.94T>A (p.Ser32Thr)
6g.35805932T>CCA363784606LHFPL5c.262T>C (p.Ser88Pro)
c.94T>C (p.Ser32Pro)
6g.35805932T>GCA363784607LHFPL5c.262T>G (p.Ser88Ala)
c.94T>G (p.Ser32Ala)
6g.35805933C>ACA363784608LHFPL5c.263C>A (p.Ser88Tyr)
c.95C>A (p.Ser32Tyr)
6g.35805933C=CA1621062616LHFPL5c.263C= (p.Ser88=)
c.95C= (p.Ser32=)
6g.35805933C>GCA363784609LHFPL5c.263C>G (p.Ser88Cys)
c.95C>G (p.Ser32Cys)
6g.35805933C>TCA3774367LHFPL5c.263C>T (p.Ser88Phe)
c.95C>T (p.Ser32Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805934C>ACA450125336LHFPL5c.264C>A (p.Ser88=)
c.96C>A (p.Ser32=)
COSMIC
6g.35805934C=CA1621062617LHFPL5c.264C= (p.Ser88=)
c.96C= (p.Ser32=)
6g.35805934C>GCA450125338LHFPL5c.264C>G (p.Ser88=)
c.96C>G (p.Ser32=)
6g.35805934C>TCA450125337LHFPL5c.264C>T (p.Ser88=)
c.96C>T (p.Ser32=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.35805935A>CCA363784610LHFPL5c.265A>C (p.Ile89Leu)
c.97A>C (p.Ile33Leu)
6g.35805935A>GCA363784611LHFPL5c.265A>G (p.Ile89Val)
c.97A>G (p.Ile33Val)
6g.35805935A>TCA363784612LHFPL5c.265A>T (p.Ile89Phe)
c.97A>T (p.Ile33Phe)
6g.35805936_35805944dupCA3774368LHFPL5c.266_274dup (p.Ser91_Arg92insIleProSer)
c.98_106dup (p.Ser35_Arg36insIleProSer)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805936T>ACA363784613LHFPL5c.266T>A (p.Ile89Asn)
c.98T>A (p.Ile33Asn)
gnomAD v4
6g.35805936T>CCA363784614LHFPL5c.266T>C (p.Ile89Thr)
c.98T>C (p.Ile33Thr)
dbSNP gnomAD v4
6g.35805936T>GCA363784615LHFPL5c.266T>G (p.Ile89Ser)
c.98T>G (p.Ile33Ser)
6g.35805936T=CA1621062618LHFPL5c.266T= (p.Ile89=)
c.98T= (p.Ile33=)
6g.35805937C>ACA450125339LHFPL5c.267C>A (p.Ile89=)
c.99C>A (p.Ile33=)
gnomAD v4
6g.35805937C=CA1621062619LHFPL5c.267C= (p.Ile89=)
c.99C= (p.Ile33=)
6g.35805937C>GCA363784616LHFPL5c.267C>G (p.Ile89Met)
c.99C>G (p.Ile33Met)
dbSNP
6g.35805937C>TCA450125340LHFPL5c.267C>T (p.Ile89=)
c.99C>T (p.Ile33=)
6g.35805938C>ACA363784617LHFPL5c.268C>A (p.Pro90Thr)
c.100C>A (p.Pro34Thr)
6g.35805938C>GCA363784618LHFPL5c.268C>G (p.Pro90Ala)
c.100C>G (p.Pro34Ala)
6g.35805938C>TCA363784619LHFPL5c.268C>T (p.Pro90Ser)
c.100C>T (p.Pro34Ser)
gnomAD v4 COSMIC
6g.35805939C>ACA363784620LHFPL5c.269C>A (p.Pro90His)
c.101C>A (p.Pro34His)
6g.35805939C=CA1621062620LHFPL5c.269C= (p.Pro90=)
c.101C= (p.Pro34=)
6g.35805939C>GCA363784621LHFPL5c.269C>G (p.Pro90Arg)
c.101C>G (p.Pro34Arg)
gnomAD v4
6g.35805939C>TCA137307556LHFPL5c.269C>T (p.Pro90Leu)
c.101C>T (p.Pro34Leu)
dbSNP gnomAD v4
6g.35805940C>ACA3774369LHFPL5c.270C>A (p.Pro90=)
c.102C>A (p.Pro34=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805940C=CA1621062621LHFPL5c.270C= (p.Pro90=)
c.102C= (p.Pro34=)
6g.35805940C>GCA450125341LHFPL5c.270C>G (p.Pro90=)
c.102C>G (p.Pro34=)
6g.35805940C>TCA450125342LHFPL5c.270C>T (p.Pro90=)
c.102C>T (p.Pro34=)
6g.35805941T>ACA363784625LHFPL5c.271T>A (p.Ser91Thr)
c.103T>A (p.Ser35Thr)
6g.35805941T>CCA363784627LHFPL5c.271T>C (p.Ser91Pro)
c.103T>C (p.Ser35Pro)
6g.35805941T>GCA363784629LHFPL5c.271T>G (p.Ser91Ala)
c.103T>G (p.Ser35Ala)
6g.35805942C>ACA363784631LHFPL5c.272C>A (p.Ser91Tyr)
c.104C>A (p.Ser35Tyr)
6g.35805942C>GCA363784634LHFPL5c.272C>G (p.Ser91Cys)
c.104C>G (p.Ser35Cys)
6g.35805942C>TCA363784636LHFPL5c.272C>T (p.Ser91Phe)
c.104C>T (p.Ser35Phe)
gnomAD v4 COSMIC
6g.35805943T>ACA450125343LHFPL5c.273T>A (p.Ser91=)
c.105T>A (p.Ser35=)
6g.35805943T>CCA450125344LHFPL5c.273T>C (p.Ser91=)
c.105T>C (p.Ser35=)
6g.35805943T>GCA450125345LHFPL5c.273T>G (p.Ser91=)
c.105T>G (p.Ser35=)
dbSNP
6g.35805943T=CA1621062622LHFPL5c.273T= (p.Ser91=)
c.105T= (p.Ser35=)
6g.35805944A>CCA450125346LHFPL5c.274A>C (p.Arg92=)
c.106A>C (p.Arg36=)
6g.35805944A>GCA363784638LHFPL5c.274A>G (p.Arg92Gly)
c.106A>G (p.Arg36Gly)
6g.35805944A>TCA363784640LHFPL5c.274A>T (p.Arg92Ter)
c.106A>T (p.Arg36Ter)
6g.35805945G>ACA363784642LHFPL5c.275G>A (p.Arg92Lys)
c.107G>A (p.Arg36Lys)
gnomAD v4
6g.35805945G>CCA363784648LHFPL5c.275G>C (p.Arg92Thr)
c.107G>C (p.Arg36Thr)
gnomAD v4
6g.35805945G>TCA363784650LHFPL5c.275G>T (p.Arg92Ile)
c.107G>T (p.Arg36Ile)
COSMIC
6g.35805946A>CCA363784653LHFPL5c.276A>C (p.Arg92Ser)
c.108A>C (p.Arg36Ser)
6g.35805946A>GCA450125347LHFPL5c.276A>G (p.Arg92=)
c.108A>G (p.Arg36=)
6g.35805946A>TCA363784654LHFPL5c.276A>T (p.Arg92Ser)
c.108A>T (p.Arg36Ser)
dbSNP
6g.35805947G>ACA363784660LHFPL5c.277G>A (p.Ala93Thr)
c.109G>A (p.Ala37Thr)
6g.35805947G>CCA363784662LHFPL5c.277G>C (p.Ala93Pro)
c.109G>C (p.Ala37Pro)
6g.35805947G>TCA363784658LHFPL5c.277G>T (p.Ala93Ser)
c.109G>T (p.Ala37Ser)
6g.35805948C>ACA363784664LHFPL5c.278C>A (p.Ala93Asp)
c.110C>A (p.Ala37Asp)
6g.35805948C>GCA363784666LHFPL5c.278C>G (p.Ala93Gly)
c.110C>G (p.Ala37Gly)
6g.35805948C>TCA363784668LHFPL5c.278C>T (p.Ala93Val)
c.110C>T (p.Ala37Val)
6g.35805949C>ACA450125349LHFPL5c.279C>A (p.Ala93=)
c.111C>A (p.Ala37=)
6g.35805949C>GCA450125350LHFPL5c.279C>G (p.Ala93=)
c.111C>G (p.Ala37=)
6g.35805949C>TCA450125348LHFPL5c.279C>T (p.Ala93=)
c.111C>T (p.Ala37=)
COSMIC
6g.35805950T>ACA363784671LHFPL5c.280T>A (p.Phe94Ile)
c.112T>A (p.Phe38Ile)
6g.35805950T>CCA363784673LHFPL5c.280T>C (p.Phe94Leu)
c.112T>C (p.Phe38Leu)
6g.35805950T>GCA363784675LHFPL5c.280T>G (p.Phe94Val)
c.112T>G (p.Phe38Val)
6g.35805951T>ACA363784677LHFPL5c.281T>A (p.Phe94Tyr)
c.113T>A (p.Phe38Tyr)
6g.35805951T>CCA363784679LHFPL5c.281T>C (p.Phe94Ser)
c.113T>C (p.Phe38Ser)
6g.35805951T>GCA363784681LHFPL5c.281T>G (p.Phe94Cys)
c.113T>G (p.Phe38Cys)
6g.35805952C>ACA363784684LHFPL5c.282C>A (p.Phe94Leu)
c.114C>A (p.Phe38Leu)
gnomAD v4
6g.35805952C>GCA363784686LHFPL5c.282C>G (p.Phe94Leu)
c.114C>G (p.Phe38Leu)
COSMIC
6g.35805952C>TCA450125351LHFPL5c.282C>T (p.Phe94=)
c.114C>T (p.Phe38=)
6g.35805953A=CA1621062623LHFPL5c.283A= (p.Lys95=)
c.115A= (p.Lys39=)
6g.35805953A>CCA363784689LHFPL5c.283A>C (p.Lys95Gln)
c.115A>C (p.Lys39Gln)
6g.35805953A>GCA363784691LHFPL5c.283A>G (p.Lys95Glu)
c.115A>G (p.Lys39Glu)
dbSNP gnomAD v4
6g.35805953A>TCA363784693LHFPL5c.283A>T (p.Lys95Ter)
c.115A>T (p.Lys39Ter)
6g.35805954A=CA1621062624LHFPL5c.284A= (p.Lys95=)
c.116A= (p.Lys39=)
6g.35805954A>CCA363784700LHFPL5c.284A>C (p.Lys95Thr)
c.116A>C (p.Lys39Thr)
6g.35805954A>GCA363784698LHFPL5c.284A>G (p.Lys95Arg)
c.116A>G (p.Lys39Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35805954A>TCA363784696LHFPL5c.284A>T (p.Lys95Met)
c.116A>T (p.Lys39Met)
6g.35805955G>ACA450125352LHFPL5c.285G>A (p.Lys95=)
c.117G>A (p.Lys39=)
6g.35805955G>CCA363784702LHFPL5c.285G>C (p.Lys95Asn)
c.117G>C (p.Lys39Asn)
6g.35805955G>TCA363784704LHFPL5c.285G>T (p.Lys95Asn)
c.117G>T (p.Lys39Asn)
6g.35805956A=CA1621062625LHFPL5c.286A= (p.Thr96=)
c.118A= (p.Thr40=)
6g.35805956A>CCA363784705LHFPL5c.286A>C (p.Thr96Pro)
c.118A>C (p.Thr40Pro)
6g.35805956A>GCA363784707LHFPL5c.286A>G (p.Thr96Ala)
c.118A>G (p.Thr40Ala)
dbSNP
6g.35805956A>TCA363784709LHFPL5c.286A>T (p.Thr96Ser)
c.118A>T (p.Thr40Ser)
6g.35805957C>ACA363784711LHFPL5c.287C>A (p.Thr96Asn)
c.119C>A (p.Thr40Asn)
6g.35805957C=CA1621062626LHFPL5c.287C= (p.Thr96=)
c.119C= (p.Thr40=)
6g.35805957C>GCA363784713LHFPL5c.287C>G (p.Thr96Ser)
c.119C>G (p.Thr40Ser)
dbSNP gnomAD v3 gnomAD v4
6g.35805957C>TCA363784715LHFPL5c.287C>T (p.Thr96Ile)
c.119C>T (p.Thr40Ile)
gnomAD v4
6g.35805958T>ACA450125353LHFPL5c.288T>A (p.Thr96=)
c.120T>A (p.Thr40=)
6g.35805958T>CCA450125354LHFPL5c.288T>C (p.Thr96=)
c.120T>C (p.Thr40=)
6g.35805958T>GCA450125355LHFPL5c.288T>G (p.Thr96=)
c.120T>G (p.Thr40=)
6g.35805959G>ACA363784718LHFPL5c.289G>A (p.Ala97Thr)
c.121G>A (p.Ala41Thr)
6g.35805959G>CCA363784720LHFPL5c.289G>C (p.Ala97Pro)
c.121G>C (p.Ala41Pro)
6g.35805959G=CA1621062627LHFPL5c.289G= (p.Ala97=)
c.121G= (p.Ala41=)
6g.35805959G>TCA3774370LHFPL5c.289G>T (p.Ala97Ser)
c.121G>T (p.Ala41Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805960C>ACA3774371LHFPL5c.290C>A (p.Ala97Asp)
c.122C>A (p.Ala41Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805960C=CA1621062628LHFPL5c.290C= (p.Ala97=)
c.122C= (p.Ala41=)
6g.35805960C>GCA363784724LHFPL5c.290C>G (p.Ala97Gly)
c.122C>G (p.Ala41Gly)
6g.35805960C>TCA363784727LHFPL5c.290C>T (p.Ala97Val)
c.122C>T (p.Ala41Val)

Number of alleles fetched