Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.103100255G>ACA488193617EXOC3L4c.36G>A (p.Glu12=)
c.210G>A (p.Glu70=)
c.147G>A (p.Glu49=)
n.765G>A
n.792G>A
 gnomAD v4
14g.103100255G>CCA391080862EXOC3L4c.36G>C (p.Glu12Asp)
c.210G>C (p.Glu70Asp)
c.147G>C (p.Glu49Asp)
n.765G>C
n.792G>C
14g.103100255G>TCA391080863EXOC3L4c.36G>T (p.Glu12Asp)
c.210G>T (p.Glu70Asp)
c.147G>T (p.Glu49Asp)
n.765G>T
n.792G>T
 gnomAD v4
14g.103100256C>ACA391080864EXOC3L4c.37C>A (p.Leu13Met)
c.211C>A (p.Leu71Met)
c.148C>A (p.Leu50Met)
n.766C>A
n.793C>A
 gnomAD v4
14g.103100256C>GCA391080865EXOC3L4c.37C>G (p.Leu13Val)
c.211C>G (p.Leu71Val)
c.148C>G (p.Leu50Val)
n.766C>G
n.793C>G
14g.103100256C>TCA488193619EXOC3L4c.37C>T (p.Leu13=)
c.211C>T (p.Leu71=)
c.148C>T (p.Leu50=)
n.766C>T
n.793C>T
14g.103100257T>ACA391080866EXOC3L4c.38T>A (p.Leu13Gln)
c.212T>A (p.Leu71Gln)
c.149T>A (p.Leu50Gln)
n.767T>A
n.794T>A
14g.103100257T>CCA391080867EXOC3L4c.38T>C (p.Leu13Pro)
c.212T>C (p.Leu71Pro)
c.149T>C (p.Leu50Pro)
n.767T>C
n.794T>C
 gnomAD v4
14g.103100257T>GCA391080868EXOC3L4c.38T>G (p.Leu13Arg)
c.212T>G (p.Leu71Arg)
c.149T>G (p.Leu50Arg)
n.767T>G
n.794T>G
14g.103100258G>ACA488193624EXOC3L4c.39G>A (p.Leu13=)
c.213G>A (p.Leu71=)
c.150G>A (p.Leu50=)
n.768G>A
n.795G>A
 gnomAD v4
14g.103100258G>CCA488193625EXOC3L4c.39G>C (p.Leu13=)
c.213G>C (p.Leu71=)
c.150G>C (p.Leu50=)
n.768G>C
n.795G>C
14g.103100258G>TCA488193626EXOC3L4c.39G>T (p.Leu13=)
c.213G>T (p.Leu71=)
c.150G>T (p.Leu50=)
n.768G>T
n.795G>T
 gnomAD v4
14g.103100259C>ACA391080869EXOC3L4c.40C>A (p.Gln14Lys)
c.214C>A (p.Gln72Lys)
c.151C>A (p.Gln51Lys)
n.769C>A
n.796C>A
 gnomAD v4
14g.103100259C>GCA391080870EXOC3L4c.40C>G (p.Gln14Glu)
c.214C>G (p.Gln72Glu)
c.151C>G (p.Gln51Glu)
n.769C>G
n.796C>G
 gnomAD v4
14g.103100259C>TCA391080871EXOC3L4c.40C>T (p.Gln14Ter)
c.214C>T (p.Gln72Ter)
c.151C>T (p.Gln51Ter)
n.769C>T
n.796C>T
 gnomAD v4
14g.103100260A=CA2160139983EXOC3L4c.41A= (p.Gln14=)
c.215A= (p.Gln72=)
c.152A= (p.Gln51=)
n.770A=
n.797A=
14g.103100260A>CCA391080874EXOC3L4c.41A>C (p.Gln14Pro)
c.215A>C (p.Gln72Pro)
c.152A>C (p.Gln51Pro)
n.770A>C
n.797A>C
14g.103100260A>GCA391080873EXOC3L4c.41A>G (p.Gln14Arg)
c.215A>G (p.Gln72Arg)
c.152A>G (p.Gln51Arg)
n.770A>G
n.797A>G
 dbSNP
14g.103100260A>TCA391080872EXOC3L4c.41A>T (p.Gln14Leu)
c.215A>T (p.Gln72Leu)
c.152A>T (p.Gln51Leu)
n.770A>T
n.797A>T
14g.103100261G>ACA488193629EXOC3L4c.42G>A (p.Gln14=)
c.216G>A (p.Gln72=)
c.153G>A (p.Gln51=)
n.771G>A
n.798G>A
14g.103100261G>CCA391080875EXOC3L4c.42G>C (p.Gln14His)
c.216G>C (p.Gln72His)
c.153G>C (p.Gln51His)
n.771G>C
n.798G>C
14g.103100261G>TCA391080876EXOC3L4c.42G>T (p.Gln14His)
c.216G>T (p.Gln72His)
c.153G>T (p.Gln51His)
n.771G>T
n.798G>T
 gnomAD v4
14g.103100262A>CCA391080877EXOC3L4c.43A>C (p.Ser15Arg)
c.217A>C (p.Ser73Arg)
c.154A>C (p.Ser52Arg)
n.772A>C
n.799A>C
14g.103100262A>GCA391080878EXOC3L4c.43A>G (p.Ser15Gly)
c.217A>G (p.Ser73Gly)
c.154A>G (p.Ser52Gly)
n.772A>G
n.799A>G
 gnomAD v4
14g.103100262A>TCA391080879EXOC3L4c.43A>T (p.Ser15Cys)
c.217A>T (p.Ser73Cys)
c.154A>T (p.Ser52Cys)
n.772A>T
n.799A>T
14g.103100263G>ACA391080880EXOC3L4c.44G>A (p.Ser15Asn)
c.218G>A (p.Ser73Asn)
c.155G>A (p.Ser52Asn)
n.773G>A
n.800G>A
14g.103100263G>CCA391080881EXOC3L4c.44G>C (p.Ser15Thr)
c.218G>C (p.Ser73Thr)
c.155G>C (p.Ser52Thr)
n.773G>C
n.800G>C
14g.103100263G>TCA391080882EXOC3L4c.44G>T (p.Ser15Ile)
c.218G>T (p.Ser73Ile)
c.155G>T (p.Ser52Ile)
n.773G>T
n.800G>T
 gnomAD v4
14g.103100264T>ACA391080883EXOC3L4c.45T>A (p.Ser15Arg)
c.219T>A (p.Ser73Arg)
c.156T>A (p.Ser52Arg)
n.774T>A
n.801T>A
14g.103100264T>CCA488193635EXOC3L4c.45T>C (p.Ser15=)
c.219T>C (p.Ser73=)
c.156T>C (p.Ser52=)
n.774T>C
n.801T>C
14g.103100264T>GCA391080884EXOC3L4c.45T>G (p.Ser15Arg)
c.219T>G (p.Ser73Arg)
c.156T>G (p.Ser52Arg)
n.774T>G
n.801T>G
14g.103100265C>ACA391080885EXOC3L4c.46C>A (p.Pro16Thr)
c.220C>A (p.Pro74Thr)
c.157C>A (p.Pro53Thr)
n.775C>A
n.802C>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100265C=CA2160139984EXOC3L4c.46C= (p.Pro16=)
c.220C= (p.Pro74=)
c.157C= (p.Pro53=)
n.775C=
n.802C=
14g.103100265C>GCA391080886EXOC3L4c.46C>G (p.Pro16Ala)
c.220C>G (p.Pro74Ala)
c.157C>G (p.Pro53Ala)
n.775C>G
n.802C>G
14g.103100265C>TCA391080887EXOC3L4c.46C>T (p.Pro16Ser)
c.220C>T (p.Pro74Ser)
c.157C>T (p.Pro53Ser)
n.775C>T
n.802C>T
14g.103100266C>ACA391080889EXOC3L4c.47C>A (p.Pro16His)
c.221C>A (p.Pro74His)
c.158C>A (p.Pro53His)
n.776C>A
n.803C>A
 gnomAD v4
14g.103100266C>GCA391080890EXOC3L4c.47C>G (p.Pro16Arg)
c.221C>G (p.Pro74Arg)
c.158C>G (p.Pro53Arg)
n.776C>G
n.803C>G
14g.103100266C>TCA391080888EXOC3L4c.47C>T (p.Pro16Leu)
c.221C>T (p.Pro74Leu)
c.158C>T (p.Pro53Leu)
n.776C>T
n.803C>T
14g.103100267C>ACA488193643EXOC3L4c.48C>A (p.Pro16=)
c.222C>A (p.Pro74=)
c.159C>A (p.Pro53=)
n.777C>A
n.804C>A
 gnomAD v4
14g.103100267C>GCA488193645EXOC3L4c.48C>G (p.Pro16=)
c.222C>G (p.Pro74=)
c.159C>G (p.Pro53=)
n.777C>G
n.804C>G
14g.103100267C>TCA488193646EXOC3L4c.48C>T (p.Pro16=)
c.222C>T (p.Pro74=)
c.159C>T (p.Pro53=)
n.777C>T
n.804C>T
14g.103100268A>CCA391080891EXOC3L4c.49A>C (p.Lys17Gln)
c.223A>C (p.Lys75Gln)
c.160A>C (p.Lys54Gln)
n.778A>C
n.805A>C
14g.103100268A>GCA391080893EXOC3L4c.49A>G (p.Lys17Glu)
c.223A>G (p.Lys75Glu)
c.160A>G (p.Lys54Glu)
n.778A>G
n.805A>G
14g.103100268A>TCA391080892EXOC3L4c.49A>T (p.Lys17Ter)
c.223A>T (p.Lys75Ter)
c.160A>T (p.Lys54Ter)
n.778A>T
n.805A>T
14g.103100269A>CCA391080894EXOC3L4c.50A>C (p.Lys17Thr)
c.224A>C (p.Lys75Thr)
c.161A>C (p.Lys54Thr)
n.779A>C
n.806A>C
14g.103100269A>GCA391080895EXOC3L4c.50A>G (p.Lys17Arg)
c.224A>G (p.Lys75Arg)
c.161A>G (p.Lys54Arg)
n.779A>G
n.806A>G
 gnomAD v4
14g.103100269A>TCA391080896EXOC3L4c.50A>T (p.Lys17Met)
c.224A>T (p.Lys75Met)
c.161A>T (p.Lys54Met)
n.779A>T
n.806A>T
14g.103100270G>ACA7361794EXOC3L4c.51G>A (p.Lys17=)
c.225G>A (p.Lys75=)
c.162G>A (p.Lys54=)
n.780G>A
n.807G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100270G>CCA391080897EXOC3L4c.51G>C (p.Lys17Asn)
c.225G>C (p.Lys75Asn)
c.162G>C (p.Lys54Asn)
n.780G>C
n.807G>C
14g.103100270G=CA2160139985EXOC3L4c.51G= (p.Lys17=)
c.225G= (p.Lys75=)
c.162G= (p.Lys54=)
n.780G=
n.807G=
14g.103100270G>TCA391080898EXOC3L4c.51G>T (p.Lys17Asn)
c.225G>T (p.Lys75Asn)
c.162G>T (p.Lys54Asn)
n.780G>T
n.807G>T
14g.103100271G>ACA391080901EXOC3L4c.52G>A (p.Glu18Lys)
c.226G>A (p.Glu76Lys)
c.163G>A (p.Glu55Lys)
n.781G>A
n.808G>A
 gnomAD v4
14g.103100271G>CCA391080899EXOC3L4c.52G>C (p.Glu18Gln)
c.226G>C (p.Glu76Gln)
c.163G>C (p.Glu55Gln)
n.781G>C
n.808G>C
14g.103100271G>TCA391080900EXOC3L4c.52G>T (p.Glu18Ter)
c.226G>T (p.Glu76Ter)
c.163G>T (p.Glu55Ter)
n.781G>T
n.808G>T
 COSMIC
14g.103100272A>CCA391080902EXOC3L4c.53A>C (p.Glu18Ala)
c.227A>C (p.Glu76Ala)
c.164A>C (p.Glu55Ala)
n.782A>C
n.809A>C
14g.103100272A>GCA391080903EXOC3L4c.53A>G (p.Glu18Gly)
c.227A>G (p.Glu76Gly)
c.164A>G (p.Glu55Gly)
n.782A>G
n.809A>G
14g.103100272A>TCA391080904EXOC3L4c.53A>T (p.Glu18Val)
c.227A>T (p.Glu76Val)
c.164A>T (p.Glu55Val)
n.782A>T
n.809A>T
14g.103100273G>ACA488193659EXOC3L4c.54G>A (p.Glu18=)
c.228G>A (p.Glu76=)
c.165G>A (p.Glu55=)
n.783G>A
n.810G>A
 gnomAD v4
14g.103100273G>CCA391080905EXOC3L4c.54G>C (p.Glu18Asp)
c.228G>C (p.Glu76Asp)
c.165G>C (p.Glu55Asp)
n.783G>C
n.810G>C
14g.103100273G>TCA391080906EXOC3L4c.54G>T (p.Glu18Asp)
c.228G>T (p.Glu76Asp)
c.165G>T (p.Glu55Asp)
n.783G>T
n.810G>T
 gnomAD v4
14g.103100274G>ACA391080907EXOC3L4c.55G>A (p.Ala19Thr)
c.229G>A (p.Ala77Thr)
c.166G>A (p.Ala56Thr)
n.784G>A
n.811G>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100274G>CCA391080909EXOC3L4c.55G>C (p.Ala19Pro)
c.229G>C (p.Ala77Pro)
c.166G>C (p.Ala56Pro)
n.784G>C
n.811G>C
14g.103100274G=CA2160139986EXOC3L4c.55G= (p.Ala19=)
c.229G= (p.Ala77=)
c.166G= (p.Ala56=)
n.784G=
n.811G=
14g.103100274G>TCA391080908EXOC3L4c.55G>T (p.Ala19Ser)
c.229G>T (p.Ala77Ser)
c.166G>T (p.Ala56Ser)
n.784G>T
n.811G>T
14g.103100275C>ACA391080910EXOC3L4c.56C>A (p.Ala19Asp)
c.230C>A (p.Ala77Asp)
c.167C>A (p.Ala56Asp)
n.785C>A
n.812C>A
 gnomAD v4
14g.103100275C>GCA391080911EXOC3L4c.56C>G (p.Ala19Gly)
c.230C>G (p.Ala77Gly)
c.167C>G (p.Ala56Gly)
n.785C>G
n.812C>G
14g.103100275C>TCA391080912EXOC3L4c.56C>T (p.Ala19Val)
c.230C>T (p.Ala77Val)
c.167C>T (p.Ala56Val)
n.785C>T
n.812C>T
14g.103100276T>ACA488193662EXOC3L4c.57T>A (p.Ala19=)
c.231T>A (p.Ala77=)
c.168T>A (p.Ala56=)
n.786T>A
n.813T>A
14g.103100276T>CCA488193665EXOC3L4c.57T>C (p.Ala19=)
c.231T>C (p.Ala77=)
c.168T>C (p.Ala56=)
n.786T>C
n.813T>C
14g.103100276T>GCA488193663EXOC3L4c.57T>G (p.Ala19=)
c.231T>G (p.Ala77=)
c.168T>G (p.Ala56=)
n.786T>G
n.813T>G
 dbSNP
14g.103100276T=CA2160139987EXOC3L4c.57T= (p.Ala19=)
c.231T= (p.Ala77=)
c.168T= (p.Ala56=)
n.786T=
n.813T=
14g.103100277G>ACA391080913EXOC3L4c.58G>A (p.Glu20Lys)
c.232G>A (p.Glu78Lys)
c.169G>A (p.Glu57Lys)
n.787G>A
n.814G>A
 dbSNP gnomAD v3 gnomAD v4
14g.103100277G>CCA391080914EXOC3L4c.58G>C (p.Glu20Gln)
c.232G>C (p.Glu78Gln)
c.169G>C (p.Glu57Gln)
n.787G>C
n.814G>C
14g.103100277G=CA2160139988EXOC3L4c.58G= (p.Glu20=)
c.232G= (p.Glu78=)
c.169G= (p.Glu57=)
n.787G=
n.814G=
14g.103100277G>TCA391080915EXOC3L4c.58G>T (p.Glu20Ter)
c.232G>T (p.Glu78Ter)
c.169G>T (p.Glu57Ter)
n.787G>T
n.814G>T
 gnomAD v4
14g.103100278A=CA2160139989EXOC3L4c.59A= (p.Glu20=)
c.233A= (p.Glu78=)
c.170A= (p.Glu57=)
n.788A=
n.815A=
14g.103100278A>CCA391080916EXOC3L4c.59A>C (p.Glu20Ala)
c.233A>C (p.Glu78Ala)
c.170A>C (p.Glu57Ala)
n.788A>C
n.815A>C
14g.103100278A>GCA391080917EXOC3L4c.59A>G (p.Glu20Gly)
c.233A>G (p.Glu78Gly)
c.170A>G (p.Glu57Gly)
n.788A>G
n.815A>G
 dbSNP gnomAD v4
14g.103100278A>TCA391080918EXOC3L4c.59A>T (p.Glu20Val)
c.233A>T (p.Glu78Val)
c.170A>T (p.Glu57Val)
n.788A>T
n.815A>T
 gnomAD v4
14g.103100279G>ACA488193668EXOC3L4c.60G>A (p.Glu20=)
c.234G>A (p.Glu78=)
c.171G>A (p.Glu57=)
n.789G>A
n.816G>A
 gnomAD v4
14g.103100279G>CCA391080919EXOC3L4c.60G>C (p.Glu20Asp)
c.234G>C (p.Glu78Asp)
c.171G>C (p.Glu57Asp)
n.789G>C
n.816G>C
14g.103100279G>TCA391080920EXOC3L4c.60G>T (p.Glu20Asp)
c.234G>T (p.Glu78Asp)
c.171G>T (p.Glu57Asp)
n.789G>T
n.816G>T
 gnomAD v4
14g.103100280G>ACA391080921EXOC3L4c.61G>A (p.Glu21Lys)
c.235G>A (p.Glu79Lys)
c.172G>A (p.Glu58Lys)
n.790G>A
n.817G>A
 gnomAD v4
14g.103100280G>CCA391080923EXOC3L4c.61G>C (p.Glu21Gln)
c.235G>C (p.Glu79Gln)
c.172G>C (p.Glu58Gln)
n.790G>C
n.817G>C
14g.103100280G=CA2160139990EXOC3L4c.61G= (p.Glu21=)
c.235G= (p.Glu79=)
c.172G= (p.Glu58=)
n.790G=
n.817G=
14g.103100280G>TCA391080922EXOC3L4c.61G>T (p.Glu21Ter)
c.235G>T (p.Glu79Ter)
c.172G>T (p.Glu58Ter)
n.790G>T
n.817G>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100281A=CA2160139991EXOC3L4c.62A= (p.Glu21=)
c.236A= (p.Glu79=)
c.173A= (p.Glu58=)
n.791A=
n.818A=
14g.103100281A>CCA391080924EXOC3L4c.62A>C (p.Glu21Ala)
c.236A>C (p.Glu79Ala)
c.173A>C (p.Glu58Ala)
n.791A>C
n.818A>C
 dbSNP
14g.103100281A>GCA391080925EXOC3L4c.62A>G (p.Glu21Gly)
c.236A>G (p.Glu79Gly)
c.173A>G (p.Glu58Gly)
n.791A>G
n.818A>G
14g.103100281A>TCA391080926EXOC3L4c.62A>T (p.Glu21Val)
c.236A>T (p.Glu79Val)
c.173A>T (p.Glu58Val)
n.791A>T
n.818A>T
14g.103100282G>ACA488193678EXOC3L4c.63G>A (p.Glu21=)
c.237G>A (p.Glu79=)
c.174G>A (p.Glu58=)
n.792G>A
n.819G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.103100282G>CCA391080927EXOC3L4c.63G>C (p.Glu21Asp)
c.237G>C (p.Glu79Asp)
c.174G>C (p.Glu58Asp)
n.792G>C
n.819G>C
14g.103100282G=CA2160139992EXOC3L4c.63G= (p.Glu21=)
c.237G= (p.Glu79=)
c.174G= (p.Glu58=)
n.792G=
n.819G=
14g.103100282G>TCA391080928EXOC3L4c.63G>T (p.Glu21Asp)
c.237G>T (p.Glu79Asp)
c.174G>T (p.Glu58Asp)
n.792G>T
n.819G>T
 gnomAD v4
14g.103100283C>ACA267170692EXOC3L4c.64C>A (p.Pro22Thr)
c.238C>A (p.Pro80Thr)
c.175C>A (p.Pro59Thr)
n.793C>A
n.820C>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100283C=CA2160139993EXOC3L4c.64C= (p.Pro22=)
c.238C= (p.Pro80=)
c.175C= (p.Pro59=)
n.793C=
n.820C=
14g.103100283C>GCA391080929EXOC3L4c.64C>G (p.Pro22Ala)
c.238C>G (p.Pro80Ala)
c.175C>G (p.Pro59Ala)
n.793C>G
n.820C>G
 gnomAD v4
14g.103100283C>TCA391080930EXOC3L4c.64C>T (p.Pro22Ser)
c.238C>T (p.Pro80Ser)
c.175C>T (p.Pro59Ser)
n.793C>T
n.820C>T
 gnomAD v4
14g.103100284C>ACA267170695EXOC3L4c.65C>A (p.Pro22Gln)
c.239C>A (p.Pro80Gln)
c.176C>A (p.Pro59Gln)
n.794C>A
n.821C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100284C=CA2160139994EXOC3L4c.65C= (p.Pro22=)
c.239C= (p.Pro80=)
c.176C= (p.Pro59=)
n.794C=
n.821C=
14g.103100284C>GCA391080931EXOC3L4c.65C>G (p.Pro22Arg)
c.239C>G (p.Pro80Arg)
c.176C>G (p.Pro59Arg)
n.794C>G
n.821C>G
14g.103100284C>TCA391080932EXOC3L4c.65C>T (p.Pro22Leu)
c.239C>T (p.Pro80Leu)
c.176C>T (p.Pro59Leu)
n.794C>T
n.821C>T
14g.103100286_103100287delCA2626692194EXOC3L4c.67_68del (p.Gln23AspfsTer?)
c.241_242del (p.Gln81AspfsTer?)
c.178_179del (p.Gln60AspfsTer?)
n.796_797del
n.823_824del
 gnomAD v4
14g.103100285A>CCA488193693EXOC3L4c.66A>C (p.Pro22=)
c.240A>C (p.Pro80=)
c.177A>C (p.Pro59=)
n.795A>C
n.822A>C
14g.103100285A>GCA488193692EXOC3L4c.66A>G (p.Pro22=)
c.240A>G (p.Pro80=)
c.177A>G (p.Pro59=)
n.795A>G
n.822A>G
14g.103100285A>TCA488193691EXOC3L4c.66A>T (p.Pro22=)
c.240A>T (p.Pro80=)
c.177A>T (p.Pro59=)
n.795A>T
n.822A>T
 gnomAD v4
14g.103100286C>ACA391080935EXOC3L4c.67C>A (p.Gln23Lys)
c.241C>A (p.Gln81Lys)
c.178C>A (p.Gln60Lys)
n.796C>A
n.823C>A
 gnomAD v4
14g.103100286C>GCA391080933EXOC3L4c.67C>G (p.Gln23Glu)
c.241C>G (p.Gln81Glu)
c.178C>G (p.Gln60Glu)
n.796C>G
n.823C>G
14g.103100286C>TCA391080934EXOC3L4c.67C>T (p.Gln23Ter)
c.241C>T (p.Gln81Ter)
c.178C>T (p.Gln60Ter)
n.796C>T
n.823C>T
14g.103100287A>CCA391080936EXOC3L4c.68A>C (p.Gln23Pro)
c.242A>C (p.Gln81Pro)
c.179A>C (p.Gln60Pro)
n.797A>C
n.824A>C
14g.103100287A>GCA391080937EXOC3L4c.68A>G (p.Gln23Arg)
c.242A>G (p.Gln81Arg)
c.179A>G (p.Gln60Arg)
n.797A>G
n.824A>G
 gnomAD v4
14g.103100287A>TCA391080938EXOC3L4c.68A>T (p.Gln23Leu)
c.242A>T (p.Gln81Leu)
c.179A>T (p.Gln60Leu)
n.797A>T
n.824A>T
14g.103100288G>ACA488193696EXOC3L4c.69G>A (p.Gln23=)
c.243G>A (p.Gln81=)
c.180G>A (p.Gln60=)
n.798G>A
n.825G>A
 gnomAD v4
14g.103100288G>CCA391080939EXOC3L4c.69G>C (p.Gln23His)
c.243G>C (p.Gln81His)
c.180G>C (p.Gln60His)
n.798G>C
n.825G>C
 dbSNP gnomAD v4
14g.103100288G=CA2160139995EXOC3L4c.69G= (p.Gln23=)
c.243G= (p.Gln81=)
c.180G= (p.Gln60=)
n.798G=
n.825G=
14g.103100288G>TCA391080940EXOC3L4c.69G>T (p.Gln23His)
c.243G>T (p.Gln81His)
c.180G>T (p.Gln60His)
n.798G>T
n.825G>T
14g.103100289A>CCA391080941EXOC3L4c.70A>C (p.Thr24Pro)
c.244A>C (p.Thr82Pro)
c.181A>C (p.Thr61Pro)
n.799A>C
n.826A>C
14g.103100289A>GCA391080942EXOC3L4c.70A>G (p.Thr24Ala)
c.244A>G (p.Thr82Ala)
c.181A>G (p.Thr61Ala)
n.799A>G
n.826A>G
14g.103100289A>TCA391080943EXOC3L4c.70A>T (p.Thr24Ser)
c.244A>T (p.Thr82Ser)
c.181A>T (p.Thr61Ser)
n.799A>T
n.826A>T
14g.103100290C>ACA391080944EXOC3L4c.71C>A (p.Thr24Asn)
c.245C>A (p.Thr82Asn)
c.182C>A (p.Thr61Asn)
n.800C>A
n.827C>A
 gnomAD v4
14g.103100290C=CA2160139996EXOC3L4c.71C= (p.Thr24=)
c.245C= (p.Thr82=)
c.182C= (p.Thr61=)
n.800C=
n.827C=
14g.103100290C>GCA391080945EXOC3L4c.71C>G (p.Thr24Ser)
c.245C>G (p.Thr82Ser)
c.182C>G (p.Thr61Ser)
n.800C>G
n.827C>G
14g.103100290C>TCA7361795EXOC3L4c.71C>T (p.Thr24Ile)
c.245C>T (p.Thr82Ile)
c.182C>T (p.Thr61Ile)
n.800C>T
n.827C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100291T>ACA488193697EXOC3L4c.72T>A (p.Thr24=)
c.246T>A (p.Thr82=)
c.183T>A (p.Thr61=)
n.801T>A
n.828T>A
14g.103100291T>CCA488193700EXOC3L4c.72T>C (p.Thr24=)
c.246T>C (p.Thr82=)
c.183T>C (p.Thr61=)
n.801T>C
n.828T>C
14g.103100291T>GCA488193702EXOC3L4c.72T>G (p.Thr24=)
c.246T>G (p.Thr82=)
c.183T>G (p.Thr61=)
n.801T>G
n.828T>G
 gnomAD v4
14g.103100292C>ACA391080947EXOC3L4c.73C>A (p.Pro25Thr)
c.247C>A (p.Pro83Thr)
c.184C>A (p.Pro62Thr)
n.802C>A
n.829C>A
 dbSNP gnomAD v4
14g.103100292C=CA2160139997EXOC3L4c.73C= (p.Pro25=)
c.247C= (p.Pro83=)
c.184C= (p.Pro62=)
n.802C=
n.829C=
14g.103100292C>GCA391080948EXOC3L4c.73C>G (p.Pro25Ala)
c.247C>G (p.Pro83Ala)
c.184C>G (p.Pro62Ala)
n.802C>G
n.829C>G
14g.103100292C>TCA391080946EXOC3L4c.73C>T (p.Pro25Ser)
c.247C>T (p.Pro83Ser)
c.184C>T (p.Pro62Ser)
n.802C>T
n.829C>T
14g.103100293C>ACA391080951EXOC3L4c.74C>A (p.Pro25Gln)
c.248C>A (p.Pro83Gln)
c.185C>A (p.Pro62Gln)
n.803C>A
n.830C>A
 gnomAD v4
14g.103100293C>GCA391080949EXOC3L4c.74C>G (p.Pro25Arg)
c.248C>G (p.Pro83Arg)
c.185C>G (p.Pro62Arg)
n.803C>G
n.830C>G
14g.103100293C>TCA391080950EXOC3L4c.74C>T (p.Pro25Leu)
c.248C>T (p.Pro83Leu)
c.185C>T (p.Pro62Leu)
n.803C>T
n.830C>T
 gnomAD v4
14g.103100294A>CCA488193706EXOC3L4c.75A>C (p.Pro25=)
c.249A>C (p.Pro83=)
c.186A>C (p.Pro62=)
n.804A>C
n.831A>C
14g.103100294A>GCA488193711EXOC3L4c.75A>G (p.Pro25=)
c.249A>G (p.Pro83=)
c.186A>G (p.Pro62=)
n.804A>G
n.831A>G
 gnomAD v4
14g.103100294A>TCA488193714EXOC3L4c.75A>T (p.Pro25=)
c.249A>T (p.Pro83=)
c.186A>T (p.Pro62=)
n.804A>T
n.831A>T
14g.103100295G>ACA391080952EXOC3L4c.76G>A (p.Ala26Thr)
c.250G>A (p.Ala84Thr)
c.187G>A (p.Ala63Thr)
n.805G>A
n.832G>A
 gnomAD v4
14g.103100295G>CCA7361796EXOC3L4c.76G>C (p.Ala26Pro)
c.250G>C (p.Ala84Pro)
c.187G>C (p.Ala63Pro)
n.805G>C
n.832G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100295G=CA2160139998EXOC3L4c.76G= (p.Ala26=)
c.250G= (p.Ala84=)
c.187G= (p.Ala63=)
n.805G=
n.832G=
14g.103100295G>TCA391080953EXOC3L4c.76G>T (p.Ala26Ser)
c.250G>T (p.Ala84Ser)
c.187G>T (p.Ala63Ser)
n.805G>T
n.832G>T
 gnomAD v4
14g.103100296C>ACA391080954EXOC3L4c.77C>A (p.Ala26Asp)
c.251C>A (p.Ala84Asp)
c.188C>A (p.Ala63Asp)
n.806C>A
n.833C>A
 gnomAD v4
14g.103100296C>GCA391080955EXOC3L4c.77C>G (p.Ala26Gly)
c.251C>G (p.Ala84Gly)
c.188C>G (p.Ala63Gly)
n.806C>G
n.833C>G
14g.103100296C>TCA391080956EXOC3L4c.77C>T (p.Ala26Val)
c.251C>T (p.Ala84Val)
c.188C>T (p.Ala63Val)
n.806C>T
n.833C>T
 gnomAD v4
14g.103100297T>ACA488193722EXOC3L4c.78T>A (p.Ala26=)
c.252T>A (p.Ala84=)
c.189T>A (p.Ala63=)
n.807T>A
n.834T>A
14g.103100297T>CCA488193723EXOC3L4c.78T>C (p.Ala26=)
c.252T>C (p.Ala84=)
c.189T>C (p.Ala63=)
n.807T>C
n.834T>C
14g.103100297T>GCA488193724EXOC3L4c.78T>G (p.Ala26=)
c.252T>G (p.Ala84=)
c.189T>G (p.Ala63=)
n.807T>G
n.834T>G
14g.103100298C>ACA391080957EXOC3L4c.79C>A (p.Gln27Lys)
c.253C>A (p.Gln85Lys)
c.190C>A (p.Gln64Lys)
n.808C>A
n.835C>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100298C=CA2160139999EXOC3L4c.79C= (p.Gln27=)
c.253C= (p.Gln85=)
c.190C= (p.Gln64=)
n.808C=
n.835C=
14g.103100298C>GCA391080958EXOC3L4c.79C>G (p.Gln27Glu)
c.253C>G (p.Gln85Glu)
c.190C>G (p.Gln64Glu)
n.808C>G
n.835C>G
14g.103100298C>TCA391080959EXOC3L4c.79C>T (p.Gln27Ter)
c.253C>T (p.Gln85Ter)
c.190C>T (p.Gln64Ter)
n.808C>T
n.835C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100299A>CCA391080960EXOC3L4c.80A>C (p.Gln27Pro)
c.254A>C (p.Gln85Pro)
c.191A>C (p.Gln64Pro)
n.809A>C
n.836A>C
14g.103100299A>GCA391080961EXOC3L4c.80A>G (p.Gln27Arg)
c.254A>G (p.Gln85Arg)
c.191A>G (p.Gln64Arg)
n.809A>G
n.836A>G
 dbSNP gnomAD v4
14g.103100299A>TCA391080962EXOC3L4c.80A>T (p.Gln27Leu)
c.254A>T (p.Gln85Leu)
c.191A>T (p.Gln64Leu)
n.809A>T
n.836A>T
14g.103100300G>ACA488193732EXOC3L4c.81G>A (p.Gln27=)
c.255G>A (p.Gln85=)
c.192G>A (p.Gln64=)
n.810G>A
n.837G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100300G>CCA391080963EXOC3L4c.81G>C (p.Gln27His)
c.255G>C (p.Gln85His)
c.192G>C (p.Gln64His)
n.810G>C
n.837G>C
 dbSNP
14g.103100300G=CA2160140000EXOC3L4c.81G= (p.Gln27=)
c.255G= (p.Gln85=)
c.192G= (p.Gln64=)
n.810G=
n.837G=
14g.103100300G>TCA391080964EXOC3L4c.81G>T (p.Gln27His)
c.255G>T (p.Gln85His)
c.192G>T (p.Gln64His)
n.810G>T
n.837G>T
 gnomAD v4
14g.103100302delCA488193735EXOC3L4c.83del (p.Gly28AlafsTer26)
c.257del (p.Gly86AlafsTer26)
c.194del (p.Gly65AlafsTer26)
n.812del
n.839del
14g.103100301G>ACA391080965EXOC3L4c.82G>A (p.Gly28Ser)
c.256G>A (p.Gly86Ser)
c.193G>A (p.Gly65Ser)
n.811G>A
n.838G>A
 dbSNP gnomAD v2
14g.103100301G>CCA391080966EXOC3L4c.82G>C (p.Gly28Arg)
c.256G>C (p.Gly86Arg)
c.193G>C (p.Gly65Arg)
n.811G>C
n.838G>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100301G=CA2160140001EXOC3L4c.82G= (p.Gly28=)
c.256G= (p.Gly86=)
c.193G= (p.Gly65=)
n.811G=
n.838G=
14g.103100301G>TCA391080967EXOC3L4c.82G>T (p.Gly28Cys)
c.256G>T (p.Gly86Cys)
c.193G>T (p.Gly65Cys)
n.811G>T
n.838G>T
 gnomAD v4
14g.103100302G>ACA391080968EXOC3L4c.83G>A (p.Gly28Asp)
c.257G>A (p.Gly86Asp)
c.194G>A (p.Gly65Asp)
n.812G>A
n.839G>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100302G>CCA391080969EXOC3L4c.83G>C (p.Gly28Ala)
c.257G>C (p.Gly86Ala)
c.194G>C (p.Gly65Ala)
n.812G>C
n.839G>C
14g.103100302G=CA2160140002EXOC3L4c.83G= (p.Gly28=)
c.257G= (p.Gly86=)
c.194G= (p.Gly65=)
n.812G=
n.839G=
14g.103100302G>TCA391080970EXOC3L4c.83G>T (p.Gly28Val)
c.257G>T (p.Gly86Val)
c.194G>T (p.Gly65Val)
n.812G>T
n.839G>T
 dbSNP gnomAD v4
14g.103100303C>ACA7361797EXOC3L4c.84C>A (p.Gly28=)
c.258C>A (p.Gly86=)
c.195C>A (p.Gly65=)
n.813C>A
n.840C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100303C=CA2160140003EXOC3L4c.84C= (p.Gly28=)
c.258C= (p.Gly86=)
c.195C= (p.Gly65=)
n.813C=
n.840C=
14g.103100303C>GCA488193739EXOC3L4c.84C>G (p.Gly28=)
c.258C>G (p.Gly86=)
c.195C>G (p.Gly65=)
n.813C>G
n.840C>G
14g.103100303C>TCA488193740EXOC3L4c.84C>T (p.Gly28=)
c.258C>T (p.Gly86=)
c.195C>T (p.Gly65=)
n.813C>T
n.840C>T
14g.103100304T>ACA391080971EXOC3L4c.85T>A (p.Ser29Thr)
c.259T>A (p.Ser87Thr)
c.196T>A (p.Ser66Thr)
n.814T>A
n.841T>A
14g.103100304T>CCA391080972EXOC3L4c.85T>C (p.Ser29Pro)
c.259T>C (p.Ser87Pro)
c.196T>C (p.Ser66Pro)
n.814T>C
n.841T>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100304T>GCA391080973EXOC3L4c.85T>G (p.Ser29Ala)
c.259T>G (p.Ser87Ala)
c.196T>G (p.Ser66Ala)
n.814T>G
n.841T>G
14g.103100304T=CA2160140004EXOC3L4c.85T= (p.Ser29=)
c.259T= (p.Ser87=)
c.196T= (p.Ser66=)
n.814T=
n.841T=
14g.103100305C>ACA391080974EXOC3L4c.86C>A (p.Ser29Tyr)
c.260C>A (p.Ser87Tyr)
c.197C>A (p.Ser66Tyr)
n.815C>A
n.842C>A
 gnomAD v4
14g.103100305C>GCA391080975EXOC3L4c.86C>G (p.Ser29Cys)
c.260C>G (p.Ser87Cys)
c.197C>G (p.Ser66Cys)
n.815C>G
n.842C>G
 gnomAD v4
14g.103100305C>TCA391080976EXOC3L4c.86C>T (p.Ser29Phe)
c.260C>T (p.Ser87Phe)
c.197C>T (p.Ser66Phe)
n.815C>T
n.842C>T
 gnomAD v4
14g.103100307delCA2626692195EXOC3L4c.88del (p.Arg30GlyfsTer24)
c.262del (p.Arg88GlyfsTer24)
c.199del (p.Arg67GlyfsTer24)
n.817del
n.844del
 gnomAD v4
14g.103100306C>ACA488193745EXOC3L4c.87C>A (p.Ser29=)
c.261C>A (p.Ser87=)
c.198C>A (p.Ser66=)
n.816C>A
n.843C>A
14g.103100306C>GCA488193747EXOC3L4c.87C>G (p.Ser29=)
c.261C>G (p.Ser87=)
c.198C>G (p.Ser66=)
n.816C>G
n.843C>G
14g.103100306C>TCA488193746EXOC3L4c.87C>T (p.Ser29=)
c.261C>T (p.Ser87=)
c.198C>T (p.Ser66=)
n.816C>T
n.843C>T
 gnomAD v4
14g.103100307C>ACA488193749EXOC3L4c.88C>A (p.Arg30=)
c.262C>A (p.Arg88=)
c.199C>A (p.Arg67=)
n.817C>A
n.844C>A
14g.103100307C=CA2160140005EXOC3L4c.88C= (p.Arg30=)
c.262C= (p.Arg88=)
c.199C= (p.Arg67=)
n.817C=
n.844C=
14g.103100307C>GCA7361799EXOC3L4c.88C>G (p.Arg30Gly)
c.262C>G (p.Arg88Gly)
c.199C>G (p.Arg67Gly)
n.817C>G
n.844C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100307C>TCA7361798EXOC3L4c.88C>T (p.Arg30Trp)
c.262C>T (p.Arg88Trp)
c.199C>T (p.Arg67Trp)
n.817C>T
n.844C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100308G>ACA7361800EXOC3L4c.89G>A (p.Arg30Gln)
c.263G>A (p.Arg88Gln)
c.200G>A (p.Arg67Gln)
n.818G>A
n.845G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100308G>CCA391080977EXOC3L4c.89G>C (p.Arg30Pro)
c.263G>C (p.Arg88Pro)
c.200G>C (p.Arg67Pro)
n.818G>C
n.845G>C
14g.103100308G=CA2160140006EXOC3L4c.89G= (p.Arg30=)
c.263G= (p.Arg88=)
c.200G= (p.Arg67=)
n.818G=
n.845G=
14g.103100308G>TCA391080978EXOC3L4c.89G>T (p.Arg30Leu)
c.263G>T (p.Arg88Leu)
c.200G>T (p.Arg67Leu)
n.818G>T
n.845G>T
 gnomAD v4
14g.103100309G>ACA488193755EXOC3L4c.90G>A (p.Arg30=)
c.264G>A (p.Arg88=)
c.201G>A (p.Arg67=)
n.819G>A
n.846G>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100309G>CCA488193756EXOC3L4c.90G>C (p.Arg30=)
c.264G>C (p.Arg88=)
c.201G>C (p.Arg67=)
n.819G>C
n.846G>C
14g.103100309G=CA2160140007EXOC3L4c.90G= (p.Arg30=)
c.264G= (p.Arg88=)
c.201G= (p.Arg67=)
n.819G=
n.846G=
14g.103100309G>TCA488193757EXOC3L4c.90G>T (p.Arg30=)
c.264G>T (p.Arg88=)
c.201G>T (p.Arg67=)
n.819G>T
n.846G>T
 gnomAD v4
14g.103100310C>ACA7361802EXOC3L4c.91C>A (p.Arg31=)
c.265C>A (p.Arg89=)
c.202C>A (p.Arg68=)
n.820C>A
n.847C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100310C=CA2160140008EXOC3L4c.91C= (p.Arg31=)
c.265C= (p.Arg89=)
c.202C= (p.Arg68=)
n.820C=
n.847C=
14g.103100310C>GCA391080979EXOC3L4c.91C>G (p.Arg31Gly)
c.265C>G (p.Arg89Gly)
c.202C>G (p.Arg68Gly)
n.820C>G
n.847C>G
 dbSNP
14g.103100310C>TCA7361801EXOC3L4c.91C>T (p.Arg31Ter)
c.265C>T (p.Arg89Ter)
c.202C>T (p.Arg68Ter)
n.820C>T
n.847C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.103100311G>ACA7361803EXOC3L4c.92G>A (p.Arg31Gln)
c.266G>A (p.Arg89Gln)
c.203G>A (p.Arg68Gln)
n.821G>A
n.848G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100311G>CCA391080980EXOC3L4c.92G>C (p.Arg31Pro)
c.266G>C (p.Arg89Pro)
c.203G>C (p.Arg68Pro)
n.821G>C
n.848G>C
 gnomAD v4
14g.103100311G=CA2160140009EXOC3L4c.92G= (p.Arg31=)
c.266G= (p.Arg89=)
c.203G= (p.Arg68=)
n.821G=
n.848G=
14g.103100311G>TCA391080981EXOC3L4c.92G>T (p.Arg31Leu)
c.266G>T (p.Arg89Leu)
c.203G>T (p.Arg68Leu)
n.821G>T
n.848G>T
 gnomAD v4
14g.103100312A>CCA488193761EXOC3L4c.93A>C (p.Arg31=)
c.267A>C (p.Arg89=)
c.204A>C (p.Arg68=)
n.822A>C
n.849A>C
14g.103100312A>GCA488193762EXOC3L4c.93A>G (p.Arg31=)
c.267A>G (p.Arg89=)
c.204A>G (p.Arg68=)
n.822A>G
n.849A>G
14g.103100312A>TCA488193763EXOC3L4c.93A>T (p.Arg31=)
c.267A>T (p.Arg89=)
c.204A>T (p.Arg68=)
n.822A>T
n.849A>T
14g.103100313A>CCA391080982EXOC3L4c.94A>C (p.Thr32Pro)
c.268A>C (p.Thr90Pro)
c.205A>C (p.Thr69Pro)
n.823A>C
n.850A>C
14g.103100313A>GCA391080983EXOC3L4c.94A>G (p.Thr32Ala)
c.268A>G (p.Thr90Ala)
c.205A>G (p.Thr69Ala)
n.823A>G
n.850A>G
14g.103100313A>TCA391080984EXOC3L4c.94A>T (p.Thr32Ser)
c.268A>T (p.Thr90Ser)
c.205A>T (p.Thr69Ser)
n.823A>T
n.850A>T
14g.103100314C>ACA391080986EXOC3L4c.95C>A (p.Thr32Lys)
c.269C>A (p.Thr90Lys)
c.206C>A (p.Thr69Lys)
n.824C>A
n.851C>A
 gnomAD v4
14g.103100314C>GCA391080987EXOC3L4c.95C>G (p.Thr32Arg)
c.269C>G (p.Thr90Arg)
c.206C>G (p.Thr69Arg)
n.824C>G
n.851C>G
14g.103100314C>TCA391080985EXOC3L4c.95C>T (p.Thr32Ile)
c.269C>T (p.Thr90Ile)
c.206C>T (p.Thr69Ile)
n.824C>T
n.851C>T
 gnomAD v4
14g.103100315A>CCA488193567EXOC3L4c.96A>C (p.Thr32=)
c.270A>C (p.Thr90=)
c.207A>C (p.Thr69=)
n.825A>C
n.852A>C
14g.103100315A>GCA488193568EXOC3L4c.96A>G (p.Thr32=)
c.270A>G (p.Thr90=)
c.207A>G (p.Thr69=)
n.825A>G
n.852A>G
14g.103100315A>TCA488193569EXOC3L4c.96A>T (p.Thr32=)
c.270A>T (p.Thr90=)
c.207A>T (p.Thr69=)
n.825A>T
n.852A>T
14g.103100316A>CCA391080988EXOC3L4c.97A>C (p.Ser33Arg)
c.271A>C (p.Ser91Arg)
c.208A>C (p.Ser70Arg)
n.826A>C
n.853A>C
14g.103100316A>GCA391080989EXOC3L4c.97A>G (p.Ser33Gly)
c.271A>G (p.Ser91Gly)
c.208A>G (p.Ser70Gly)
n.826A>G
n.853A>G
14g.103100316A>TCA391080990EXOC3L4c.97A>T (p.Ser33Cys)
c.271A>T (p.Ser91Cys)
c.208A>T (p.Ser70Cys)
n.826A>T
n.853A>T
14g.103100317G>ACA391080991EXOC3L4c.98G>A (p.Ser33Asn)
c.272G>A (p.Ser91Asn)
c.209G>A (p.Ser70Asn)
n.827G>A
n.854G>A
14g.103100317G>CCA391080992EXOC3L4c.98G>C (p.Ser33Thr)
c.272G>C (p.Ser91Thr)
c.209G>C (p.Ser70Thr)
n.827G>C
n.854G>C
14g.103100317G>TCA391080993EXOC3L4c.98G>T (p.Ser33Ile)
c.272G>T (p.Ser91Ile)
c.209G>T (p.Ser70Ile)
n.827G>T
n.854G>T
14g.103100318C>ACA391080994EXOC3L4c.99C>A (p.Ser33Arg)
c.273C>A (p.Ser91Arg)
c.210C>A (p.Ser70Arg)
n.828C>A
n.855C>A
14g.103100318C>GCA391080995EXOC3L4c.99C>G (p.Ser33Arg)
c.273C>G (p.Ser91Arg)
c.210C>G (p.Ser70Arg)
n.828C>G
n.855C>G
14g.103100318C>TCA488193575EXOC3L4c.99C>T (p.Ser33=)
c.273C>T (p.Ser91=)
c.210C>T (p.Ser70=)
n.828C>T
n.855C>T
 gnomAD v4
14g.103100319A=CA2160140010EXOC3L4c.100A= (p.Ser34=)
c.274A= (p.Ser92=)
c.211A= (p.Ser71=)
n.829A=
n.856A=
14g.103100319A>CCA391080996EXOC3L4c.100A>C (p.Ser34Arg)
c.274A>C (p.Ser92Arg)
c.211A>C (p.Ser71Arg)
n.829A>C
n.856A>C
 dbSNP
14g.103100319A>GCA391080997EXOC3L4c.100A>G (p.Ser34Gly)
c.274A>G (p.Ser92Gly)
c.211A>G (p.Ser71Gly)
n.829A>G
n.856A>G
 dbSNP
14g.103100319A>TCA391080998EXOC3L4c.100A>T (p.Ser34Cys)
c.274A>T (p.Ser92Cys)
c.211A>T (p.Ser71Cys)
n.829A>T
n.856A>T
14g.103100320G>ACA391080999EXOC3L4c.101G>A (p.Ser34Asn)
c.275G>A (p.Ser92Asn)
c.212G>A (p.Ser71Asn)
n.830G>A
n.857G>A
 gnomAD v4
14g.103100320G>CCA391081000EXOC3L4c.101G>C (p.Ser34Thr)
c.275G>C (p.Ser92Thr)
c.212G>C (p.Ser71Thr)
n.830G>C
n.857G>C
14g.103100320G>TCA391081001EXOC3L4c.101G>T (p.Ser34Ile)
c.275G>T (p.Ser92Ile)
c.212G>T (p.Ser71Ile)
n.830G>T
n.857G>T
 gnomAD v4
14g.103100321C>ACA391081002EXOC3L4c.102C>A (p.Ser34Arg)
c.276C>A (p.Ser92Arg)
c.213C>A (p.Ser71Arg)
n.831C>A
n.858C>A
 gnomAD v4
14g.103100321C=CA2160140011EXOC3L4c.102C= (p.Ser34=)
c.276C= (p.Ser92=)
c.213C= (p.Ser71=)
n.831C=
n.858C=
14g.103100321C>GCA391081003EXOC3L4c.102C>G (p.Ser34Arg)
c.276C>G (p.Ser92Arg)
c.213C>G (p.Ser71Arg)
n.831C>G
n.858C>G
14g.103100321C>TCA488193580EXOC3L4c.102C>T (p.Ser34=)
c.276C>T (p.Ser92=)
c.213C>T (p.Ser71=)
n.831C>T
n.858C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100322A>CCA488193581EXOC3L4c.103A>C (p.Arg35=)
c.277A>C (p.Arg93=)
c.214A>C (p.Arg72=)
n.832A>C
n.859A>C
14g.103100322A>GCA391081004EXOC3L4c.103A>G (p.Arg35Gly)
c.277A>G (p.Arg93Gly)
c.214A>G (p.Arg72Gly)
n.832A>G
n.859A>G
14g.103100322A>TCA391081005EXOC3L4c.103A>T (p.Arg35Trp)
c.277A>T (p.Arg93Trp)
c.214A>T (p.Arg72Trp)
n.832A>T
n.859A>T
 gnomAD v4
14g.103100323G>ACA391081006EXOC3L4c.104G>A (p.Arg35Lys)
c.278G>A (p.Arg93Lys)
c.215G>A (p.Arg72Lys)
n.833G>A
n.860G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100323G>CCA391081008EXOC3L4c.104G>C (p.Arg35Thr)
c.278G>C (p.Arg93Thr)
c.215G>C (p.Arg72Thr)
n.833G>C
n.860G>C
14g.103100323G=CA2160140012EXOC3L4c.104G= (p.Arg35=)
c.278G= (p.Arg93=)
c.215G= (p.Arg72=)
n.833G=
n.860G=
14g.103100323G>TCA391081007EXOC3L4c.104G>T (p.Arg35Met)
c.278G>T (p.Arg93Met)
c.215G>T (p.Arg72Met)
n.833G>T
n.860G>T
14g.103100324G>ACA488193586EXOC3L4c.105G>A (p.Arg35=)
c.279G>A (p.Arg93=)
c.216G>A (p.Arg72=)
n.834G>A
n.861G>A
14g.103100324G>CCA391081009EXOC3L4c.105G>C (p.Arg35Ser)
c.279G>C (p.Arg93Ser)
c.216G>C (p.Arg72Ser)
n.834G>C
n.861G>C
14g.103100324G>TCA391081010EXOC3L4c.105G>T (p.Arg35Ser)
c.279G>T (p.Arg93Ser)
c.216G>T (p.Arg72Ser)
n.834G>T
n.861G>T
 gnomAD v4
14g.103100325A>CCA391081011EXOC3L4c.106A>C (p.Lys36Gln)
c.280A>C (p.Lys94Gln)
c.217A>C (p.Lys73Gln)
n.835A>C
n.862A>C
 gnomAD v4
14g.103100325A>GCA391081012EXOC3L4c.106A>G (p.Lys36Glu)
c.280A>G (p.Lys94Glu)
c.217A>G (p.Lys73Glu)
n.835A>G
n.862A>G
14g.103100325A>TCA391081013EXOC3L4c.106A>T (p.Lys36Ter)
c.280A>T (p.Lys94Ter)
c.217A>T (p.Lys73Ter)
n.835A>T
n.862A>T
14g.103100326A>CCA391081014EXOC3L4c.107A>C (p.Lys36Thr)
c.281A>C (p.Lys94Thr)
c.218A>C (p.Lys73Thr)
n.836A>C
n.863A>C
14g.103100326A>GCA391081015EXOC3L4c.107A>G (p.Lys36Arg)
c.281A>G (p.Lys94Arg)
c.218A>G (p.Lys73Arg)
n.836A>G
n.863A>G
14g.103100326A>TCA391081016EXOC3L4c.107A>T (p.Lys36Ile)
c.281A>T (p.Lys94Ile)
c.218A>T (p.Lys73Ile)
n.836A>T
n.863A>T
14g.103100327A>CCA391081017EXOC3L4c.108A>C (p.Lys36Asn)
c.282A>C (p.Lys94Asn)
c.219A>C (p.Lys73Asn)
n.837A>C
n.864A>C
14g.103100327A>GCA488193591EXOC3L4c.108A>G (p.Lys36=)
c.282A>G (p.Lys94=)
c.219A>G (p.Lys73=)
n.837A>G
n.864A>G
 gnomAD v4
14g.103100327A>TCA391081018EXOC3L4c.108A>T (p.Lys36Asn)
c.282A>T (p.Lys94Asn)
c.219A>T (p.Lys73Asn)
n.837A>T
n.864A>T
14g.103100328G>ACA391081019EXOC3L4c.109G>A (p.Glu37Lys)
c.1G>A (p.Glu1Lys)
c.283G>A (p.Glu95Lys)
c.220G>A (p.Glu74Lys)
n.838G>A
n.865G>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100328G>CCA391081020EXOC3L4c.109G>C (p.Glu37Gln)
c.1G>C (p.Glu1Gln)
c.283G>C (p.Glu95Gln)
c.220G>C (p.Glu74Gln)
n.838G>C
n.865G>C
14g.103100328G=CA2160140013EXOC3L4c.109G= (p.Glu37=)
c.1G= (p.Glu1=)
c.283G= (p.Glu95=)
c.220G= (p.Glu74=)
n.838G=
n.865G=
14g.103100328G>TCA391081021EXOC3L4c.109G>T (p.Glu37Ter)
c.1G>T (p.Glu1Ter)
c.283G>T (p.Glu95Ter)
c.220G>T (p.Glu74Ter)
n.838G>T
n.865G>T
14g.103100329A>CCA391081024EXOC3L4c.110A>C (p.Glu37Ala)
c.2A>C (p.Glu1Ala)
c.284A>C (p.Glu95Ala)
c.221A>C (p.Glu74Ala)
n.839A>C
n.866A>C
14g.103100329A>GCA391081022EXOC3L4c.110A>G (p.Glu37Gly)
c.2A>G (p.Glu1Gly)
c.284A>G (p.Glu95Gly)
c.221A>G (p.Glu74Gly)
n.839A>G
n.866A>G
14g.103100329A>TCA391081023EXOC3L4c.110A>T (p.Glu37Val)
c.2A>T (p.Glu1Val)
c.284A>T (p.Glu95Val)
c.221A>T (p.Glu74Val)
n.839A>T
n.866A>T
14g.103100330G>ACA488193596EXOC3L4c.111G>A (p.Glu37=)
c.3G>A (p.Glu1=)
c.285G>A (p.Glu95=)
c.222G>A (p.Glu74=)
n.840G>A
n.867G>A
 gnomAD v4
14g.103100330G>CCA391081025EXOC3L4c.111G>C (p.Glu37Asp)
c.3G>C (p.Glu1Asp)
c.285G>C (p.Glu95Asp)
c.222G>C (p.Glu74Asp)
n.840G>C
n.867G>C
14g.103100330G>TCA391081026EXOC3L4c.111G>T (p.Glu37Asp)
c.3G>T (p.Glu1Asp)
c.285G>T (p.Glu95Asp)
c.222G>T (p.Glu74Asp)
n.840G>T
n.867G>T
 gnomAD v4
14g.103100331C>ACA391081027EXOC3L4c.112C>A (p.Pro38Thr)
c.4C>A (p.Pro2Thr)
c.286C>A (p.Pro96Thr)
c.223C>A (p.Pro75Thr)
n.841C>A
n.868C>A
 gnomAD v4
14g.103100331C=CA2160140014EXOC3L4c.112C= (p.Pro38=)
c.4C= (p.Pro2=)
c.286C= (p.Pro96=)
c.223C= (p.Pro75=)
n.841C=
n.868C=
14g.103100331C>GCA391081028EXOC3L4c.112C>G (p.Pro38Ala)
c.4C>G (p.Pro2Ala)
c.286C>G (p.Pro96Ala)
c.223C>G (p.Pro75Ala)
n.841C>G
n.868C>G
14g.103100331C>TCA267170762EXOC3L4c.112C>T (p.Pro38Ser)
c.4C>T (p.Pro2Ser)
c.286C>T (p.Pro96Ser)
c.223C>T (p.Pro75Ser)
n.841C>T
n.868C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100332C>ACA391081029EXOC3L4c.113C>A (p.Pro38His)
c.5C>A (p.Pro2His)
c.287C>A (p.Pro96His)
c.224C>A (p.Pro75His)
n.842C>A
n.869C>A
14g.103100332C=CA2160140015EXOC3L4c.113C= (p.Pro38=)
c.5C= (p.Pro2=)
c.287C= (p.Pro96=)
c.224C= (p.Pro75=)
n.842C=
n.869C=
14g.103100332C>GCA391081030EXOC3L4c.113C>G (p.Pro38Arg)
c.5C>G (p.Pro2Arg)
c.287C>G (p.Pro96Arg)
c.224C>G (p.Pro75Arg)
n.842C>G
n.869C>G
14g.103100332C>TCA391081031EXOC3L4c.113C>T (p.Pro38Leu)
c.5C>T (p.Pro2Leu)
c.287C>T (p.Pro96Leu)
c.224C>T (p.Pro75Leu)
n.842C>T
n.869C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100333C>ACA488193601EXOC3L4c.114C>A (p.Pro38=)
c.6C>A (p.Pro2=)
c.288C>A (p.Pro96=)
c.225C>A (p.Pro75=)
n.843C>A
n.870C>A
 gnomAD v4
14g.103100333C>GCA488193604EXOC3L4c.114C>G (p.Pro38=)
c.6C>G (p.Pro2=)
c.288C>G (p.Pro96=)
c.225C>G (p.Pro75=)
n.843C>G
n.870C>G
14g.103100333C>TCA488193605EXOC3L4c.114C>T (p.Pro38=)
c.6C>T (p.Pro2=)
c.288C>T (p.Pro96=)
c.225C>T (p.Pro75=)
n.843C>T
n.870C>T
14g.103100334A>CCA391081032EXOC3L4c.115A>C (p.Asn39His)
c.7A>C (p.Asn3His)
c.289A>C (p.Asn97His)
c.226A>C (p.Asn76His)
n.844A>C
n.871A>C
14g.103100334A>GCA391081034EXOC3L4c.115A>G (p.Asn39Asp)
c.7A>G (p.Asn3Asp)
c.289A>G (p.Asn97Asp)
c.226A>G (p.Asn76Asp)
n.844A>G
n.871A>G
14g.103100334A>TCA391081036EXOC3L4c.115A>T (p.Asn39Tyr)
c.7A>T (p.Asn3Tyr)
c.289A>T (p.Asn97Tyr)
c.226A>T (p.Asn76Tyr)
n.844A>T
n.871A>T
14g.103100335A=CA2160140016EXOC3L4c.116A= (p.Asn39=)
c.8A= (p.Asn3=)
c.290A= (p.Asn97=)
c.227A= (p.Asn76=)
n.845A=
n.872A=
14g.103100335A>CCA391081039EXOC3L4c.116A>C (p.Asn39Thr)
c.8A>C (p.Asn3Thr)
c.290A>C (p.Asn97Thr)
c.227A>C (p.Asn76Thr)
n.845A>C
n.872A>C
14g.103100335A>GCA7361804EXOC3L4c.116A>G (p.Asn39Ser)
c.8A>G (p.Asn3Ser)
c.290A>G (p.Asn97Ser)
c.227A>G (p.Asn76Ser)
n.845A>G
n.872A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100335A>TCA391081038EXOC3L4c.116A>T (p.Asn39Ile)
c.8A>T (p.Asn3Ile)
c.290A>T (p.Asn97Ile)
c.227A>T (p.Asn76Ile)
n.845A>T
n.872A>T
14g.103100336T>ACA391081043EXOC3L4c.117T>A (p.Asn39Lys)
c.9T>A (p.Asn3Lys)
c.291T>A (p.Asn97Lys)
c.228T>A (p.Asn76Lys)
n.846T>A
n.873T>A
14g.103100336T>CCA488193609EXOC3L4c.117T>C (p.Asn39=)
c.9T>C (p.Asn3=)
c.291T>C (p.Asn97=)
c.228T>C (p.Asn76=)
n.846T>C
n.873T>C
 gnomAD v4
14g.103100336T>GCA391081044EXOC3L4c.117T>G (p.Asn39Lys)
c.9T>G (p.Asn3Lys)
c.291T>G (p.Asn97Lys)
c.228T>G (p.Asn76Lys)
n.846T>G
n.873T>G
14g.103100337G>ACA391081047EXOC3L4c.118G>A (p.Ala40Thr)
c.10G>A (p.Ala4Thr)
c.292G>A (p.Ala98Thr)
c.229G>A (p.Ala77Thr)
n.847G>A
n.874G>A
14g.103100337G>CCA391081048EXOC3L4c.118G>C (p.Ala40Pro)
c.10G>C (p.Ala4Pro)
c.292G>C (p.Ala98Pro)
c.229G>C (p.Ala77Pro)
n.847G>C
n.874G>C
 gnomAD v4
14g.103100337G>TCA391081051EXOC3L4c.118G>T (p.Ala40Ser)
c.10G>T (p.Ala4Ser)
c.292G>T (p.Ala98Ser)
c.229G>T (p.Ala77Ser)
n.847G>T
n.874G>T
 gnomAD v4
14g.103100338C>ACA391081057EXOC3L4c.119C>A (p.Ala40Asp)
c.11C>A (p.Ala4Asp)
c.293C>A (p.Ala98Asp)
c.230C>A (p.Ala77Asp)
n.848C>A
n.875C>A
14g.103100338C=CA2160140017EXOC3L4c.119C= (p.Ala40=)
c.11C= (p.Ala4=)
c.293C= (p.Ala98=)
c.230C= (p.Ala77=)
n.848C=
n.875C=
14g.103100338C>GCA391081055EXOC3L4c.119C>G (p.Ala40Gly)
c.11C>G (p.Ala4Gly)
c.293C>G (p.Ala98Gly)
c.230C>G (p.Ala77Gly)
n.848C>G
n.875C>G
14g.103100338C>TCA391081054EXOC3L4c.119C>T (p.Ala40Val)
c.11C>T (p.Ala4Val)
c.293C>T (p.Ala98Val)
c.230C>T (p.Ala77Val)
n.848C>T
n.875C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100339C>ACA488193612EXOC3L4c.120C>A (p.Ala40=)
c.12C>A (p.Ala4=)
c.294C>A (p.Ala98=)
c.231C>A (p.Ala77=)
n.849C>A
n.876C>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100339C=CA2160140018EXOC3L4c.120C= (p.Ala40=)
c.12C= (p.Ala4=)
c.294C= (p.Ala98=)
c.231C= (p.Ala77=)
n.849C=
n.876C=
14g.103100339C>GCA488193613EXOC3L4c.120C>G (p.Ala40=)
c.12C>G (p.Ala4=)
c.294C>G (p.Ala98=)
c.231C>G (p.Ala77=)
n.849C>G
n.876C>G
14g.103100339C>TCA488193614EXOC3L4c.120C>T (p.Ala40=)
c.12C>T (p.Ala4=)
c.294C>T (p.Ala98=)
c.231C>T (p.Ala77=)
n.849C>T
n.876C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100340C>ACA391081060EXOC3L4c.121C>A (p.His41Asn)
c.13C>A (p.His5Asn)
c.295C>A (p.His99Asn)
c.232C>A (p.His78Asn)
n.850C>A
n.877C>A
14g.103100340C>GCA391081062EXOC3L4c.121C>G (p.His41Asp)
c.13C>G (p.His5Asp)
c.295C>G (p.His99Asp)
c.232C>G (p.His78Asp)
n.850C>G
n.877C>G
14g.103100340C>TCA391081063EXOC3L4c.121C>T (p.His41Tyr)
c.13C>T (p.His5Tyr)
c.295C>T (p.His99Tyr)
c.232C>T (p.His78Tyr)
n.850C>T
n.877C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100341A>CCA391081065EXOC3L4c.122A>C (p.His41Pro)
c.14A>C (p.His5Pro)
c.296A>C (p.His99Pro)
c.233A>C (p.His78Pro)
n.851A>C
n.878A>C
14g.103100341A>GCA391081067EXOC3L4c.122A>G (p.His41Arg)
c.14A>G (p.His5Arg)
c.296A>G (p.His99Arg)
c.233A>G (p.His78Arg)
n.851A>G
n.878A>G
14g.103100341A>TCA391081069EXOC3L4c.122A>T (p.His41Leu)
c.14A>T (p.His5Leu)
c.296A>T (p.His99Leu)
c.233A>T (p.His78Leu)
n.851A>T
n.878A>T
14g.103100342C>ACA391081071EXOC3L4c.123C>A (p.His41Gln)
c.15C>A (p.His5Gln)
c.297C>A (p.His99Gln)
c.234C>A (p.His78Gln)
n.852C>A
n.879C>A
 dbSNP
14g.103100342C=CA2160140019EXOC3L4c.123C= (p.His41=)
c.15C= (p.His5=)
c.297C= (p.His99=)
c.234C= (p.His78=)
n.852C=
n.879C=
14g.103100342C>GCA391081074EXOC3L4c.123C>G (p.His41Gln)
c.15C>G (p.His5Gln)
c.297C>G (p.His99Gln)
c.234C>G (p.His78Gln)
n.852C>G
n.879C>G
14g.103100342C>TCA7361805EXOC3L4c.123C>T (p.His41=)
c.15C>T (p.His5=)
c.297C>T (p.His99=)
c.234C>T (p.His78=)
n.852C>T
n.879C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100342_103100349delCA2730322688EXOC3L4c.123_130del (p.His41GlnfsTer?)
c.15_22del (p.His5GlnfsTer?)
c.297_304del (p.His99GlnfsTer?)
c.234_241del (p.His78GlnfsTer?)
n.852_859del
n.879_886del
 dbSNP
14g.103100343C>ACA391081076EXOC3L4c.124C>A (p.Arg42Ser)
c.16C>A (p.Arg6Ser)
c.298C>A (p.Arg100Ser)
c.235C>A (p.Arg79Ser)
n.853C>A
n.880C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100343C=CA2160140020EXOC3L4c.124C= (p.Arg42=)
c.16C= (p.Arg6=)
c.298C= (p.Arg100=)
c.235C= (p.Arg79=)
n.853C=
n.880C=
14g.103100343C>GCA391081077EXOC3L4c.124C>G (p.Arg42Gly)
c.16C>G (p.Arg6Gly)
c.298C>G (p.Arg100Gly)
c.235C>G (p.Arg79Gly)
n.853C>G
n.880C>G
14g.103100343C>TCA7361806EXOC3L4c.124C>T (p.Arg42Cys)
c.16C>T (p.Arg6Cys)
c.298C>T (p.Arg100Cys)
c.235C>T (p.Arg79Cys)
n.853C>T
n.880C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.103100344G>ACA7361807EXOC3L4c.125G>A (p.Arg42His)
c.17G>A (p.Arg6His)
c.299G>A (p.Arg100His)
c.236G>A (p.Arg79His)
n.854G>A
n.881G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100344G>CCA391081082EXOC3L4c.125G>C (p.Arg42Pro)
c.17G>C (p.Arg6Pro)
c.299G>C (p.Arg100Pro)
c.236G>C (p.Arg79Pro)
n.854G>C
n.881G>C
14g.103100344G=CA2160140021EXOC3L4c.125G= (p.Arg42=)
c.17G= (p.Arg6=)
c.299G= (p.Arg100=)
c.236G= (p.Arg79=)
n.854G=
n.881G=
14g.103100344G>TCA391081084EXOC3L4c.125G>T (p.Arg42Leu)
c.17G>T (p.Arg6Leu)
c.299G>T (p.Arg100Leu)
c.236G>T (p.Arg79Leu)
n.854G>T
n.881G>T
 dbSNP
14g.103100345C>ACA488193620EXOC3L4c.126C>A (p.Arg42=)
c.18C>A (p.Arg6=)
c.300C>A (p.Arg100=)
c.237C>A (p.Arg79=)
n.855C>A
n.882C>A
14g.103100345C>GCA488193621EXOC3L4c.126C>G (p.Arg42=)
c.18C>G (p.Arg6=)
c.300C>G (p.Arg100=)
c.237C>G (p.Arg79=)
n.855C>G
n.882C>G
14g.103100345C>TCA488193622EXOC3L4c.126C>T (p.Arg42=)
c.18C>T (p.Arg6=)
c.300C>T (p.Arg100=)
c.237C>T (p.Arg79=)
n.855C>T
n.882C>T
 gnomAD v4
14g.103100346A>CCA391081087EXOC3L4c.127A>C (p.Lys43Gln)
c.19A>C (p.Lys7Gln)
c.301A>C (p.Lys101Gln)
c.238A>C (p.Lys80Gln)
n.856A>C
n.883A>C
14g.103100346A>GCA391081088EXOC3L4c.127A>G (p.Lys43Glu)
c.19A>G (p.Lys7Glu)
c.301A>G (p.Lys101Glu)
c.238A>G (p.Lys80Glu)
n.856A>G
n.883A>G
14g.103100346A>TCA391081091EXOC3L4c.127A>T (p.Lys43Ter)
c.19A>T (p.Lys7Ter)
c.301A>T (p.Lys101Ter)
c.238A>T (p.Lys80Ter)
n.856A>T
n.883A>T
14g.103100347A>CCA391081093EXOC3L4c.128A>C (p.Lys43Thr)
c.20A>C (p.Lys7Thr)
c.302A>C (p.Lys101Thr)
c.239A>C (p.Lys80Thr)
n.857A>C
n.884A>C
14g.103100347A>GCA391081096EXOC3L4c.128A>G (p.Lys43Arg)
c.20A>G (p.Lys7Arg)
c.302A>G (p.Lys101Arg)
c.239A>G (p.Lys80Arg)
n.857A>G
n.884A>G
14g.103100347A>TCA391081098EXOC3L4c.128A>T (p.Lys43Met)
c.20A>T (p.Lys7Met)
c.302A>T (p.Lys101Met)
c.239A>T (p.Lys80Met)
n.857A>T
n.884A>T
14g.103100348G>ACA488193627EXOC3L4c.129G>A (p.Lys43=)
c.21G>A (p.Lys7=)
c.303G>A (p.Lys101=)
c.240G>A (p.Lys80=)
n.858G>A
n.885G>A
14g.103100348G>CCA391081100EXOC3L4c.129G>C (p.Lys43Asn)
c.21G>C (p.Lys7Asn)
c.303G>C (p.Lys101Asn)
c.240G>C (p.Lys80Asn)
n.858G>C
n.885G>C
14g.103100348G>TCA391081102EXOC3L4c.129G>T (p.Lys43Asn)
c.21G>T (p.Lys7Asn)
c.303G>T (p.Lys101Asn)
c.240G>T (p.Lys80Asn)
n.858G>T
n.885G>T
14g.103100349G>ACA391081105EXOC3L4c.130G>A (p.Asp44Asn)
c.22G>A (p.Asp8Asn)
c.304G>A (p.Asp102Asn)
c.241G>A (p.Asp81Asn)
n.859G>A
n.886G>A
14g.103100349G>CCA391081108EXOC3L4c.130G>C (p.Asp44His)
c.22G>C (p.Asp8His)
c.304G>C (p.Asp102His)
c.241G>C (p.Asp81His)
n.859G>C
n.886G>C
14g.103100349G>TCA391081106EXOC3L4c.130G>T (p.Asp44Tyr)
c.22G>T (p.Asp8Tyr)
c.304G>T (p.Asp102Tyr)
c.241G>T (p.Asp81Tyr)
n.859G>T
n.886G>T
14g.103100350A>CCA391081111EXOC3L4c.131A>C (p.Asp44Ala)
c.23A>C (p.Asp8Ala)
c.305A>C (p.Asp102Ala)
c.242A>C (p.Asp81Ala)
n.860A>C
n.887A>C
14g.103100350A>GCA391081112EXOC3L4c.131A>G (p.Asp44Gly)
c.23A>G (p.Asp8Gly)
c.305A>G (p.Asp102Gly)
c.242A>G (p.Asp81Gly)
n.860A>G
n.887A>G
14g.103100350A>TCA391081114EXOC3L4c.131A>T (p.Asp44Val)
c.23A>T (p.Asp8Val)
c.305A>T (p.Asp102Val)
c.242A>T (p.Asp81Val)
n.860A>T
n.887A>T
14g.103100351T>ACA391081115EXOC3L4c.132T>A (p.Asp44Glu)
c.24T>A (p.Asp8Glu)
c.306T>A (p.Asp102Glu)
c.243T>A (p.Asp81Glu)
n.861T>A
n.888T>A
14g.103100351T>CCA488193630EXOC3L4c.132T>C (p.Asp44=)
c.24T>C (p.Asp8=)
c.306T>C (p.Asp102=)
c.243T>C (p.Asp81=)
n.861T>C
n.888T>C
14g.103100351T>GCA391081118EXOC3L4c.132T>G (p.Asp44Glu)
c.24T>G (p.Asp8Glu)
c.306T>G (p.Asp102Glu)
c.243T>G (p.Asp81Glu)
n.861T>G
n.888T>G
14g.103100352G>ACA391081120EXOC3L4c.133G>A (p.Gly45Ser)
c.25G>A (p.Gly9Ser)
c.307G>A (p.Gly103Ser)
c.244G>A (p.Gly82Ser)
n.862G>A
n.889G>A
14g.103100352G>CCA391081122EXOC3L4c.133G>C (p.Gly45Arg)
c.25G>C (p.Gly9Arg)
c.307G>C (p.Gly103Arg)
c.244G>C (p.Gly82Arg)
n.862G>C
n.889G>C
14g.103100352G>TCA391081124EXOC3L4c.133G>T (p.Gly45Cys)
c.25G>T (p.Gly9Cys)
c.307G>T (p.Gly103Cys)
c.244G>T (p.Gly82Cys)
n.862G>T
n.889G>T
 gnomAD v4
14g.103100353G>ACA391081126EXOC3L4c.134G>A (p.Gly45Asp)
c.26G>A (p.Gly9Asp)
c.308G>A (p.Gly103Asp)
c.245G>A (p.Gly82Asp)
n.863G>A
n.890G>A
 gnomAD v4
14g.103100353G>CCA391081128EXOC3L4c.134G>C (p.Gly45Ala)
c.26G>C (p.Gly9Ala)
c.308G>C (p.Gly103Ala)
c.245G>C (p.Gly82Ala)
n.863G>C
n.890G>C
14g.103100353G>TCA391081130EXOC3L4c.134G>T (p.Gly45Val)
c.26G>T (p.Gly9Val)
c.308G>T (p.Gly103Val)
c.245G>T (p.Gly82Val)
n.863G>T
n.890G>T
14g.103100354C>ACA488193632EXOC3L4c.135C>A (p.Gly45=)
c.27C>A (p.Gly9=)
c.309C>A (p.Gly103=)
c.246C>A (p.Gly82=)
n.864C>A
n.891C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100354C=CA2160140022EXOC3L4c.135C= (p.Gly45=)
c.27C= (p.Gly9=)
c.309C= (p.Gly103=)
c.246C= (p.Gly82=)
n.864C=
n.891C=
14g.103100354C>GCA488193651EXOC3L4c.135C>G (p.Gly45=)
c.27C>G (p.Gly9=)
c.309C>G (p.Gly103=)
c.246C>G (p.Gly82=)
n.864C>G
n.891C>G
 gnomAD v4
14g.103100354C>TCA488193652EXOC3L4c.135C>T (p.Gly45=)
c.27C>T (p.Gly9=)
c.309C>T (p.Gly103=)
c.246C>T (p.Gly82=)
n.864C>T
n.891C>T
 dbSNP gnomAD v4
14g.103100355A>CCA391081137EXOC3L4c.136A>C (p.Thr46Pro)
c.28A>C (p.Thr10Pro)
c.310A>C (p.Thr104Pro)
c.247A>C (p.Thr83Pro)
n.865A>C
n.892A>C
14g.103100355A>GCA391081135EXOC3L4c.136A>G (p.Thr46Ala)
c.28A>G (p.Thr10Ala)
c.310A>G (p.Thr104Ala)
c.247A>G (p.Thr83Ala)
n.865A>G
n.892A>G
14g.103100355A>TCA391081133EXOC3L4c.136A>T (p.Thr46Ser)
c.28A>T (p.Thr10Ser)
c.310A>T (p.Thr104Ser)
c.247A>T (p.Thr83Ser)
n.865A>T
n.892A>T

Number of alleles fetched