Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.103100387_103100403delCA645582098EXOC3L4c.168_184del (p.Phe57AlafsTer?)
c.60_76del (p.Phe21AlafsTer?)
c.342_358del (p.Phe115AlafsTer?)
c.279_295del (p.Phe94AlafsTer?)
n.897_913del
n.924_940del
 COSMIC
14g.103100401G>ACA391081327EXOC3L4c.182G>A (p.Ser61Asn)
c.74G>A (p.Ser25Asn)
c.356G>A (p.Ser119Asn)
c.293G>A (p.Ser98Asn)
n.911G>A
n.938G>A
 dbSNP gnomAD v3 gnomAD v4
14g.103100401G>CCA391081330EXOC3L4c.182G>C (p.Ser61Thr)
c.74G>C (p.Ser25Thr)
c.356G>C (p.Ser119Thr)
c.293G>C (p.Ser98Thr)
n.911G>C
n.938G>C
 gnomAD v4
14g.103100401G=CA2160140043EXOC3L4c.182G= (p.Ser61=)
c.74G= (p.Ser25=)
c.356G= (p.Ser119=)
c.293G= (p.Ser98=)
n.911G=
n.938G=
14g.103100401G>TCA391081332EXOC3L4c.182G>T (p.Ser61Ile)
c.74G>T (p.Ser25Ile)
c.356G>T (p.Ser119Ile)
c.293G>T (p.Ser98Ile)
n.911G>T
n.938G>T
14g.103100402C>ACA391081335EXOC3L4c.183C>A (p.Ser61Arg)
c.75C>A (p.Ser25Arg)
c.357C>A (p.Ser119Arg)
c.294C>A (p.Ser98Arg)
n.912C>A
n.939C>A
14g.103100402C>GCA391081336EXOC3L4c.183C>G (p.Ser61Arg)
c.75C>G (p.Ser25Arg)
c.357C>G (p.Ser119Arg)
c.294C>G (p.Ser98Arg)
n.912C>G
n.939C>G
14g.103100402C>TCA488193791EXOC3L4c.183C>T (p.Ser61=)
c.75C>T (p.Ser25=)
c.357C>T (p.Ser119=)
c.294C>T (p.Ser98=)
n.912C>T
n.939C>T
14g.103100403C>ACA7361815EXOC3L4c.184C>A (p.Gln62Lys)
c.76C>A (p.Gln26Lys)
c.358C>A (p.Gln120Lys)
c.295C>A (p.Gln99Lys)
n.913C>A
n.940C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100403C=CA2160140044EXOC3L4c.184C= (p.Gln62=)
c.76C= (p.Gln26=)
c.358C= (p.Gln120=)
c.295C= (p.Gln99=)
n.913C=
n.940C=
14g.103100403C>GCA391081341EXOC3L4c.184C>G (p.Gln62Glu)
c.76C>G (p.Gln26Glu)
c.358C>G (p.Gln120Glu)
c.295C>G (p.Gln99Glu)
n.913C>G
n.940C>G
14g.103100403C>TCA391081343EXOC3L4c.184C>T (p.Gln62Ter)
c.76C>T (p.Gln26Ter)
c.358C>T (p.Gln120Ter)
c.295C>T (p.Gln99Ter)
n.913C>T
n.940C>T
14g.103100404A>CCA391081346EXOC3L4c.185A>C (p.Gln62Pro)
c.77A>C (p.Gln26Pro)
c.359A>C (p.Gln120Pro)
c.296A>C (p.Gln99Pro)
n.914A>C
n.941A>C
14g.103100404A>GCA391081348EXOC3L4c.185A>G (p.Gln62Arg)
c.77A>G (p.Gln26Arg)
c.359A>G (p.Gln120Arg)
c.296A>G (p.Gln99Arg)
n.914A>G
n.941A>G
14g.103100404A>TCA391081356EXOC3L4c.185A>T (p.Gln62Leu)
c.77A>T (p.Gln26Leu)
c.359A>T (p.Gln120Leu)
c.296A>T (p.Gln99Leu)
n.914A>T
n.941A>T
14g.103100404_103100408delCA2575632688EXOC3L4c.185_189del (p.Gln62ArgfsTer30)
c.77_81del (p.Gln26ArgfsTer30)
c.359_363del (p.Gln120ArgfsTer30)
c.296_300del (p.Gln99ArgfsTer30)
n.914_918del
n.941_945del
14g.103100405G>ACA488193798EXOC3L4c.186G>A (p.Gln62=)
c.78G>A (p.Gln26=)
c.360G>A (p.Gln120=)
c.297G>A (p.Gln99=)
n.915G>A
n.942G>A
14g.103100405G>CCA391081358EXOC3L4c.186G>C (p.Gln62His)
c.78G>C (p.Gln26His)
c.360G>C (p.Gln120His)
c.297G>C (p.Gln99His)
n.915G>C
n.942G>C
14g.103100405G=CA2160140045EXOC3L4c.186G= (p.Gln62=)
c.78G= (p.Gln26=)
c.360G= (p.Gln120=)
c.297G= (p.Gln99=)
n.915G=
n.942G=
14g.103100405G>TCA391081360EXOC3L4c.186G>T (p.Gln62His)
c.78G>T (p.Gln26His)
c.360G>T (p.Gln120His)
c.297G>T (p.Gln99His)
n.915G>T
n.942G>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100406C>ACA488193800EXOC3L4c.187C>A (p.Arg63=)
c.79C>A (p.Arg27=)
c.361C>A (p.Arg121=)
c.298C>A (p.Arg100=)
n.916C>A
n.943C>A
14g.103100406C=CA2160140046EXOC3L4c.187C= (p.Arg63=)
c.79C= (p.Arg27=)
c.361C= (p.Arg121=)
c.298C= (p.Arg100=)
n.916C=
n.943C=
14g.103100406C>GCA391081362EXOC3L4c.187C>G (p.Arg63Gly)
c.79C>G (p.Arg27Gly)
c.361C>G (p.Arg121Gly)
c.298C>G (p.Arg100Gly)
n.916C>G
n.943C>G
14g.103100406C>TCA7361816EXOC3L4c.187C>T (p.Arg63Trp)
c.79C>T (p.Arg27Trp)
c.361C>T (p.Arg121Trp)
c.298C>T (p.Arg100Trp)
n.916C>T
n.943C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100407G>ACA7361817EXOC3L4c.188G>A (p.Arg63Gln)
c.80G>A (p.Arg27Gln)
c.362G>A (p.Arg121Gln)
c.299G>A (p.Arg100Gln)
n.917G>A
n.944G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100407G>CCA391081367EXOC3L4c.188G>C (p.Arg63Pro)
c.80G>C (p.Arg27Pro)
c.362G>C (p.Arg121Pro)
c.299G>C (p.Arg100Pro)
n.917G>C
n.944G>C
 gnomAD v4
14g.103100407G=CA2160140047EXOC3L4c.188G= (p.Arg63=)
c.80G= (p.Arg27=)
c.362G= (p.Arg121=)
c.299G= (p.Arg100=)
n.917G=
n.944G=
14g.103100407G>TCA391081370EXOC3L4c.188G>T (p.Arg63Leu)
c.80G>T (p.Arg27Leu)
c.362G>T (p.Arg121Leu)
c.299G>T (p.Arg100Leu)
n.917G>T
n.944G>T
 gnomAD v4
14g.103100408G>ACA488193802EXOC3L4c.189G>A (p.Arg63=)
c.81G>A (p.Arg27=)
c.363G>A (p.Arg121=)
c.300G>A (p.Arg100=)
n.918G>A
n.945G>A
14g.103100408G>CCA488193804EXOC3L4c.189G>C (p.Arg63=)
c.81G>C (p.Arg27=)
c.363G>C (p.Arg121=)
c.300G>C (p.Arg100=)
n.918G>C
n.945G>C
14g.103100408G>TCA488193805EXOC3L4c.189G>T (p.Arg63=)
c.81G>T (p.Arg27=)
c.363G>T (p.Arg121=)
c.300G>T (p.Arg100=)
n.918G>T
n.945G>T
14g.103100409G>ACA391081375EXOC3L4c.190G>A (p.Ala64Thr)
c.82G>A (p.Ala28Thr)
c.364G>A (p.Ala122Thr)
c.301G>A (p.Ala101Thr)
n.919G>A
n.946G>A
14g.103100409G>CCA391081377EXOC3L4c.190G>C (p.Ala64Pro)
c.82G>C (p.Ala28Pro)
c.364G>C (p.Ala122Pro)
c.301G>C (p.Ala101Pro)
n.919G>C
n.946G>C
14g.103100409G>TCA391081381EXOC3L4c.190G>T (p.Ala64Ser)
c.82G>T (p.Ala28Ser)
c.364G>T (p.Ala122Ser)
c.301G>T (p.Ala101Ser)
n.919G>T
n.946G>T
 gnomAD v4
14g.103100410C>ACA391081383EXOC3L4c.191C>A (p.Ala64Asp)
c.83C>A (p.Ala28Asp)
c.365C>A (p.Ala122Asp)
c.302C>A (p.Ala101Asp)
n.920C>A
n.947C>A
14g.103100410C=CA2160140048EXOC3L4c.191C= (p.Ala64=)
c.83C= (p.Ala28=)
c.365C= (p.Ala122=)
c.302C= (p.Ala101=)
n.920C=
n.947C=
14g.103100410C>GCA391081385EXOC3L4c.191C>G (p.Ala64Gly)
c.83C>G (p.Ala28Gly)
c.365C>G (p.Ala122Gly)
c.302C>G (p.Ala101Gly)
n.920C>G
n.947C>G
14g.103100410C>TCA391081386EXOC3L4c.191C>T (p.Ala64Val)
c.83C>T (p.Ala28Val)
c.365C>T (p.Ala122Val)
c.302C>T (p.Ala101Val)
n.920C>T
n.947C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100411T>ACA488193806EXOC3L4c.192T>A (p.Ala64=)
c.84T>A (p.Ala28=)
c.366T>A (p.Ala122=)
c.303T>A (p.Ala101=)
n.921T>A
n.948T>A
14g.103100411T>CCA488193807EXOC3L4c.192T>C (p.Ala64=)
c.84T>C (p.Ala28=)
c.366T>C (p.Ala122=)
c.303T>C (p.Ala101=)
n.921T>C
n.948T>C
14g.103100411T>GCA488193808EXOC3L4c.192T>G (p.Ala64=)
c.84T>G (p.Ala28=)
c.366T>G (p.Ala122=)
c.303T>G (p.Ala101=)
n.921T>G
n.948T>G
14g.103100412T>ACA391081390EXOC3L4c.193T>A (p.Leu65Met)
c.85T>A (p.Leu29Met)
c.367T>A (p.Leu123Met)
c.304T>A (p.Leu102Met)
n.922T>A
n.949T>A
14g.103100412T>CCA488193809EXOC3L4c.193T>C (p.Leu65=)
c.85T>C (p.Leu29=)
c.367T>C (p.Leu123=)
c.304T>C (p.Leu102=)
n.922T>C
n.949T>C
14g.103100412T>GCA391081393EXOC3L4c.193T>G (p.Leu65Val)
c.85T>G (p.Leu29Val)
c.367T>G (p.Leu123Val)
c.304T>G (p.Leu102Val)
n.922T>G
n.949T>G
14g.103100413T>ACA391081397EXOC3L4c.194T>A (p.Leu65Ter)
c.86T>A (p.Leu29Ter)
c.368T>A (p.Leu123Ter)
c.305T>A (p.Leu102Ter)
n.923T>A
n.950T>A
14g.103100413T>CCA391081400EXOC3L4c.194T>C (p.Leu65Ser)
c.86T>C (p.Leu29Ser)
c.368T>C (p.Leu123Ser)
c.305T>C (p.Leu102Ser)
n.923T>C
n.950T>C
14g.103100413T>GCA391081402EXOC3L4c.194T>G (p.Leu65Trp)
c.86T>G (p.Leu29Trp)
c.368T>G (p.Leu123Trp)
c.305T>G (p.Leu102Trp)
n.923T>G
n.950T>G
14g.103100414G>ACA488193813EXOC3L4c.195G>A (p.Leu65=)
c.87G>A (p.Leu29=)
c.369G>A (p.Leu123=)
c.306G>A (p.Leu102=)
n.924G>A
n.951G>A
14g.103100414G>CCA391081408EXOC3L4c.195G>C (p.Leu65Phe)
c.87G>C (p.Leu29Phe)
c.369G>C (p.Leu123Phe)
c.306G>C (p.Leu102Phe)
n.924G>C
n.951G>C
14g.103100414G>TCA391081405EXOC3L4c.195G>T (p.Leu65Phe)
c.87G>T (p.Leu29Phe)
c.369G>T (p.Leu123Phe)
c.306G>T (p.Leu102Phe)
n.924G>T
n.951G>T
14g.103100415A>CCA391081411EXOC3L4c.196A>C (p.Thr66Pro)
c.88A>C (p.Thr30Pro)
c.370A>C (p.Thr124Pro)
c.307A>C (p.Thr103Pro)
n.925A>C
n.952A>C
 dbSNP
14g.103100415A>GCA391081413EXOC3L4c.196A>G (p.Thr66Ala)
c.88A>G (p.Thr30Ala)
c.370A>G (p.Thr124Ala)
c.307A>G (p.Thr103Ala)
n.925A>G
n.952A>G
14g.103100415A>TCA391081416EXOC3L4c.196A>T (p.Thr66Ser)
c.88A>T (p.Thr30Ser)
c.370A>T (p.Thr124Ser)
c.307A>T (p.Thr103Ser)
n.925A>T
n.952A>T
14g.103100416C>ACA391081417EXOC3L4c.197C>A (p.Thr66Asn)
c.89C>A (p.Thr30Asn)
c.371C>A (p.Thr124Asn)
c.308C>A (p.Thr103Asn)
n.926C>A
n.953C>A
14g.103100416C>GCA391081418EXOC3L4c.197C>G (p.Thr66Ser)
c.89C>G (p.Thr30Ser)
c.371C>G (p.Thr124Ser)
c.308C>G (p.Thr103Ser)
n.926C>G
n.953C>G
 gnomAD v4
14g.103100416C>TCA391081419EXOC3L4c.197C>T (p.Thr66Ile)
c.89C>T (p.Thr30Ile)
c.371C>T (p.Thr124Ile)
c.308C>T (p.Thr103Ile)
n.926C>T
n.953C>T
 gnomAD v4
14g.103100417C>ACA488193817EXOC3L4c.198C>A (p.Thr66=)
c.90C>A (p.Thr30=)
c.372C>A (p.Thr124=)
c.309C>A (p.Thr103=)
n.927C>A
n.954C>A
14g.103100417C>GCA488193818EXOC3L4c.198C>G (p.Thr66=)
c.90C>G (p.Thr30=)
c.372C>G (p.Thr124=)
c.309C>G (p.Thr103=)
n.927C>G
n.954C>G
14g.103100417C>TCA488193820EXOC3L4c.198C>T (p.Thr66=)
c.90C>T (p.Thr30=)
c.372C>T (p.Thr124=)
c.309C>T (p.Thr103=)
n.927C>T
n.954C>T
14g.103100418C>ACA391081428EXOC3L4c.199C>A (p.Gln67Lys)
c.91C>A (p.Gln31Lys)
c.373C>A (p.Gln125Lys)
c.310C>A (p.Gln104Lys)
n.928C>A
n.955C>A
 gnomAD v4
14g.103100418C=CA2160140049EXOC3L4c.199C= (p.Gln67=)
c.91C= (p.Gln31=)
c.373C= (p.Gln125=)
c.310C= (p.Gln104=)
n.928C=
n.955C=
14g.103100418C>GCA391081421EXOC3L4c.199C>G (p.Gln67Glu)
c.91C>G (p.Gln31Glu)
c.373C>G (p.Gln125Glu)
c.310C>G (p.Gln104Glu)
n.928C>G
n.955C>G
 dbSNP gnomAD v4
14g.103100418C>TCA391081423EXOC3L4c.199C>T (p.Gln67Ter)
c.91C>T (p.Gln31Ter)
c.373C>T (p.Gln125Ter)
c.310C>T (p.Gln104Ter)
n.928C>T
n.955C>T
14g.103100419delCA2626692202EXOC3L4c.200del (p.Gln67ArgfsTer25)
c.92del (p.Gln31ArgfsTer25)
c.374del (p.Gln125ArgfsTer25)
c.311del (p.Gln104ArgfsTer25)
n.929del
n.956del
 gnomAD v4
14g.103100419A=CA2160140050EXOC3L4c.200A= (p.Gln67=)
c.92A= (p.Gln31=)
c.374A= (p.Gln125=)
c.311A= (p.Gln104=)
n.929A=
n.956A=
14g.103100419A>CCA391081431EXOC3L4c.200A>C (p.Gln67Pro)
c.92A>C (p.Gln31Pro)
c.374A>C (p.Gln125Pro)
c.311A>C (p.Gln104Pro)
n.929A>C
n.956A>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100419A>GCA391081434EXOC3L4c.200A>G (p.Gln67Arg)
c.92A>G (p.Gln31Arg)
c.374A>G (p.Gln125Arg)
c.311A>G (p.Gln104Arg)
n.929A>G
n.956A>G
14g.103100419A>TCA391081437EXOC3L4c.200A>T (p.Gln67Leu)
c.92A>T (p.Gln31Leu)
c.374A>T (p.Gln125Leu)
c.311A>T (p.Gln104Leu)
n.929A>T
n.956A>T
14g.103100420G>ACA488193827EXOC3L4c.201G>A (p.Gln67=)
c.93G>A (p.Gln31=)
c.375G>A (p.Gln125=)
c.312G>A (p.Gln104=)
n.930G>A
n.957G>A
 gnomAD v4
14g.103100420G>CCA391081442EXOC3L4c.201G>C (p.Gln67His)
c.93G>C (p.Gln31His)
c.375G>C (p.Gln125His)
c.312G>C (p.Gln104His)
n.930G>C
n.957G>C
14g.103100420G>TCA391081445EXOC3L4c.201G>T (p.Gln67His)
c.93G>T (p.Gln31His)
c.375G>T (p.Gln125His)
c.312G>T (p.Gln104His)
n.930G>T
n.957G>T
14g.103100421G>ACA391081448EXOC3L4c.202G>A (p.Val68Ile)
c.94G>A (p.Val32Ile)
c.376G>A (p.Val126Ile)
c.313G>A (p.Val105Ile)
n.931G>A
n.958G>A
14g.103100421G>CCA391081453EXOC3L4c.202G>C (p.Val68Leu)
c.94G>C (p.Val32Leu)
c.376G>C (p.Val126Leu)
c.313G>C (p.Val105Leu)
n.931G>C
n.958G>C
14g.103100421G>TCA391081450EXOC3L4c.202G>T (p.Val68Phe)
c.94G>T (p.Val32Phe)
c.376G>T (p.Val126Phe)
c.313G>T (p.Val105Phe)
n.931G>T
n.958G>T
14g.103100422T>ACA391081456EXOC3L4c.203T>A (p.Val68Asp)
c.95T>A (p.Val32Asp)
c.377T>A (p.Val126Asp)
c.314T>A (p.Val105Asp)
n.932T>A
n.959T>A
14g.103100422T>CCA391081457EXOC3L4c.203T>C (p.Val68Ala)
c.95T>C (p.Val32Ala)
c.377T>C (p.Val126Ala)
c.314T>C (p.Val105Ala)
n.932T>C
n.959T>C
14g.103100422T>GCA391081458EXOC3L4c.203T>G (p.Val68Gly)
c.95T>G (p.Val32Gly)
c.377T>G (p.Val126Gly)
c.314T>G (p.Val105Gly)
n.932T>G
n.959T>G
14g.103100423C>ACA488193830EXOC3L4c.204C>A (p.Val68=)
c.96C>A (p.Val32=)
c.378C>A (p.Val126=)
c.315C>A (p.Val105=)
n.933C>A
n.960C>A
 gnomAD v4
14g.103100423C=CA2160140051EXOC3L4c.204C= (p.Val68=)
c.96C= (p.Val32=)
c.378C= (p.Val126=)
c.315C= (p.Val105=)
n.933C=
n.960C=
14g.103100423C>GCA7361818EXOC3L4c.204C>G (p.Val68=)
c.96C>G (p.Val32=)
c.378C>G (p.Val126=)
c.315C>G (p.Val105=)
n.933C>G
n.960C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100423C>TCA488193833EXOC3L4c.204C>T (p.Val68=)
c.96C>T (p.Val32=)
c.378C>T (p.Val126=)
c.315C>T (p.Val105=)
n.933C>T
n.960C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100424T>ACA391081461EXOC3L4c.205T>A (p.Ser69Thr)
c.97T>A (p.Ser33Thr)
c.379T>A (p.Ser127Thr)
c.316T>A (p.Ser106Thr)
n.934T>A
n.961T>A
14g.103100424T>CCA391081463EXOC3L4c.205T>C (p.Ser69Pro)
c.97T>C (p.Ser33Pro)
c.379T>C (p.Ser127Pro)
c.316T>C (p.Ser106Pro)
n.934T>C
n.961T>C
 gnomAD v4
14g.103100424T>GCA391081466EXOC3L4c.205T>G (p.Ser69Ala)
c.97T>G (p.Ser33Ala)
c.379T>G (p.Ser127Ala)
c.316T>G (p.Ser106Ala)
n.934T>G
n.961T>G
14g.103100424T=CA2160140052EXOC3L4c.205T= (p.Ser69=)
c.97T= (p.Ser33=)
c.379T= (p.Ser127=)
c.316T= (p.Ser106=)
n.934T=
n.961T=
14g.103100425C>ACA391081470EXOC3L4c.206C>A (p.Ser69Tyr)
c.98C>A (p.Ser33Tyr)
c.380C>A (p.Ser127Tyr)
c.317C>A (p.Ser106Tyr)
n.935C>A
n.962C>A
14g.103100425C=CA2160140054EXOC3L4c.206C= (p.Ser69=)
c.98C= (p.Ser33=)
c.380C= (p.Ser127=)
c.317C= (p.Ser106=)
n.935C=
n.962C=
14g.103100425C>GCA391081473EXOC3L4c.206C>G (p.Ser69Cys)
c.98C>G (p.Ser33Cys)
c.380C>G (p.Ser127Cys)
c.317C>G (p.Ser106Cys)
n.935C>G
n.962C>G
14g.103100425C>TCA391081476EXOC3L4c.206C>T (p.Ser69Phe)
c.98C>T (p.Ser33Phe)
c.380C>T (p.Ser127Phe)
c.317C>T (p.Ser106Phe)
n.935C>T
n.962C>T
 dbSNP gnomAD v2
14g.103100426_103100427insCTTTGACCCA2160140053EXOC3L4c.207_208insCTTTGACC (p.Lys70LeufsTer2)
c.99_100insCTTTGACC (p.Lys34LeufsTer2)
c.381_382insCTTTGACC (p.Lys128LeufsTer2)
c.318_319insCTTTGACC (p.Lys107LeufsTer2)
n.936_937insCTTTGACC
n.963_964insCTTTGACC
 dbSNP
14g.103100426C>ACA488193840EXOC3L4c.207C>A (p.Ser69=)
c.99C>A (p.Ser33=)
c.381C>A (p.Ser127=)
c.318C>A (p.Ser106=)
n.936C>A
n.963C>A
14g.103100426C=CA2160140055EXOC3L4c.207C= (p.Ser69=)
c.99C= (p.Ser33=)
c.381C= (p.Ser127=)
c.318C= (p.Ser106=)
n.936C=
n.963C=
14g.103100426C>GCA488193843EXOC3L4c.207C>G (p.Ser69=)
c.99C>G (p.Ser33=)
c.381C>G (p.Ser127=)
c.318C>G (p.Ser106=)
n.936C>G
n.963C>G
14g.103100426C>TCA488193842EXOC3L4c.207C>T (p.Ser69=)
c.99C>T (p.Ser33=)
c.381C>T (p.Ser127=)
c.318C>T (p.Ser106=)
n.936C>T
n.963C>T
 gnomAD v4
14g.103100426_103100427insCTTTGCA966769491EXOC3L4c.207_208insCTTTG (p.Lys70LeufsTer2)
c.99_100insCTTTG (p.Lys34LeufsTer2)
c.381_382insCTTTG (p.Lys128LeufsTer2)
c.318_319insCTTTG (p.Lys107LeufsTer2)
n.936_937insCTTTG
n.963_964insCTTTG
 dbSNP gnomAD v3 gnomAD v4
14g.103100427A=CA2160140056EXOC3L4c.208A= (p.Lys70=)
c.100A= (p.Lys34=)
c.382A= (p.Lys128=)
c.319A= (p.Lys107=)
n.937A=
n.964A=
14g.103100427A>CCA391081479EXOC3L4c.208A>C (p.Lys70Gln)
c.100A>C (p.Lys34Gln)
c.382A>C (p.Lys128Gln)
c.319A>C (p.Lys107Gln)
n.937A>C
n.964A>C
 dbSNP
14g.103100427A>GCA391081480EXOC3L4c.208A>G (p.Lys70Glu)
c.100A>G (p.Lys34Glu)
c.382A>G (p.Lys128Glu)
c.319A>G (p.Lys107Glu)
n.937A>G
n.964A>G
14g.103100427A>TCA391081485EXOC3L4c.208A>T (p.Lys70Ter)
c.100A>T (p.Lys34Ter)
c.382A>T (p.Lys128Ter)
c.319A>T (p.Lys107Ter)
n.937A>T
n.964A>T
14g.103100427_103100428insCCCCA966769498EXOC3L4c.208_209insCCC (p.Lys70delinsThrGln)
c.100_101insCCC (p.Lys34delinsThrGln)
c.382_383insCCC (p.Lys128delinsThrGln)
c.319_320insCCC (p.Lys107delinsThrGln)
n.937_938insCCC
n.964_965insCCC
 dbSNP gnomAD v3 gnomAD v4
14g.103100428A>CCA391081504EXOC3L4c.209A>C (p.Lys70Thr)
c.101A>C (p.Lys34Thr)
c.383A>C (p.Lys128Thr)
c.320A>C (p.Lys107Thr)
n.938A>C
n.965A>C
14g.103100428A>GCA391081488EXOC3L4c.209A>G (p.Lys70Arg)
c.101A>G (p.Lys34Arg)
c.383A>G (p.Lys128Arg)
c.320A>G (p.Lys107Arg)
n.938A>G
n.965A>G
14g.103100428A>TCA391081499EXOC3L4c.209A>T (p.Lys70Met)
c.101A>T (p.Lys34Met)
c.383A>T (p.Lys128Met)
c.320A>T (p.Lys107Met)
n.938A>T
n.965A>T
14g.103100428_103100429delinsAGCA2160140057EXOC3L4c.209_210delinsAG (p.Lys70=)
c.101_102delinsAG (p.Lys34=)
c.383_384delinsAG (p.Lys128=)
c.320_321delinsAG (p.Lys107=)
n.938_939delinsAG
n.965_966delinsAG
14g.103100429G>ACA488193848EXOC3L4c.210G>A (p.Lys70=)
c.102G>A (p.Lys34=)
c.384G>A (p.Lys128=)
c.321G>A (p.Lys107=)
n.939G>A
n.966G>A
 dbSNP
14g.103100429G>CCA391081507EXOC3L4c.210G>C (p.Lys70Asn)
c.102G>C (p.Lys34Asn)
c.384G>C (p.Lys128Asn)
c.321G>C (p.Lys107Asn)
n.939G>C
n.966G>C
14g.103100429G=CA2160140058EXOC3L4c.210G= (p.Lys70=)
c.102G= (p.Lys34=)
c.384G= (p.Lys128=)
c.321G= (p.Lys107=)
n.939G=
n.966G=
14g.103100429G>TCA391081509EXOC3L4c.210G>T (p.Lys70Asn)
c.102G>T (p.Lys34Asn)
c.384G>T (p.Lys128Asn)
c.321G>T (p.Lys107Asn)
n.939G>T
n.966G>T
 gnomAD v4
14g.103100430delCA7361819EXOC3L4c.211del (p.Glu71LysfsTer21)
c.103del (p.Glu35LysfsTer21)
c.385del (p.Glu129LysfsTer21)
c.322del (p.Glu108LysfsTer21)
n.940del
n.967del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100430G>ACA391081515EXOC3L4c.211G>A (p.Glu71Lys)
c.103G>A (p.Glu35Lys)
c.385G>A (p.Glu129Lys)
c.322G>A (p.Glu108Lys)
n.940G>A
n.967G>A
14g.103100430G>CCA391081518EXOC3L4c.211G>C (p.Glu71Gln)
c.103G>C (p.Glu35Gln)
c.385G>C (p.Glu129Gln)
c.322G>C (p.Glu108Gln)
n.940G>C
n.967G>C
14g.103100430G>TCA391081520EXOC3L4c.211G>T (p.Glu71Ter)
c.103G>T (p.Glu35Ter)
c.385G>T (p.Glu129Ter)
c.322G>T (p.Glu108Ter)
n.940G>T
n.967G>T
14g.103100431A>CCA391081525EXOC3L4c.212A>C (p.Glu71Ala)
c.104A>C (p.Glu35Ala)
c.386A>C (p.Glu129Ala)
c.323A>C (p.Glu108Ala)
n.941A>C
n.968A>C
14g.103100431A>GCA391081528EXOC3L4c.212A>G (p.Glu71Gly)
c.104A>G (p.Glu35Gly)
c.386A>G (p.Glu129Gly)
c.323A>G (p.Glu108Gly)
n.941A>G
n.968A>G
14g.103100431A>TCA391081531EXOC3L4c.212A>T (p.Glu71Val)
c.104A>T (p.Glu35Val)
c.386A>T (p.Glu129Val)
c.323A>T (p.Glu108Val)
n.941A>T
n.968A>T
14g.103100432A>CCA391081534EXOC3L4c.213A>C (p.Glu71Asp)
c.105A>C (p.Glu35Asp)
c.387A>C (p.Glu129Asp)
c.324A>C (p.Glu108Asp)
n.942A>C
n.969A>C
14g.103100432A>GCA488193856EXOC3L4c.213A>G (p.Glu71=)
c.105A>G (p.Glu35=)
c.387A>G (p.Glu129=)
c.324A>G (p.Glu108=)
n.942A>G
n.969A>G
 dbSNP
14g.103100432A>TCA391081537EXOC3L4c.213A>T (p.Glu71Asp)
c.105A>T (p.Glu35Asp)
c.387A>T (p.Glu129Asp)
c.324A>T (p.Glu108Asp)
n.942A>T
n.969A>T
14g.103100433G>ACA391081540EXOC3L4c.214G>A (p.Asp72Asn)
c.106G>A (p.Asp36Asn)
c.388G>A (p.Asp130Asn)
c.325G>A (p.Asp109Asn)
n.943G>A
n.970G>A
14g.103100433G>CCA7361820EXOC3L4c.214G>C (p.Asp72His)
c.106G>C (p.Asp36His)
c.388G>C (p.Asp130His)
c.325G>C (p.Asp109His)
n.943G>C
n.970G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100433G=CA2160140059EXOC3L4c.214G= (p.Asp72=)
c.106G= (p.Asp36=)
c.388G= (p.Asp130=)
c.325G= (p.Asp109=)
n.943G=
n.970G=
14g.103100433G>TCA391081543EXOC3L4c.214G>T (p.Asp72Tyr)
c.106G>T (p.Asp36Tyr)
c.388G>T (p.Asp130Tyr)
c.325G>T (p.Asp109Tyr)
n.943G>T
n.970G>T
14g.103100434A>CCA391081551EXOC3L4c.215A>C (p.Asp72Ala)
c.107A>C (p.Asp36Ala)
c.389A>C (p.Asp130Ala)
c.326A>C (p.Asp109Ala)
n.944A>C
n.971A>C
14g.103100434A>GCA391081555EXOC3L4c.215A>G (p.Asp72Gly)
c.107A>G (p.Asp36Gly)
c.389A>G (p.Asp130Gly)
c.326A>G (p.Asp109Gly)
n.944A>G
n.971A>G
14g.103100434A>TCA391081552EXOC3L4c.215A>T (p.Asp72Val)
c.107A>T (p.Asp36Val)
c.389A>T (p.Asp130Val)
c.326A>T (p.Asp109Val)
n.944A>T
n.971A>T
14g.103100435T>ACA391081556EXOC3L4c.216T>A (p.Asp72Glu)
c.108T>A (p.Asp36Glu)
c.390T>A (p.Asp130Glu)
c.327T>A (p.Asp109Glu)
n.945T>A
n.972T>A
 dbSNP gnomAD v4
14g.103100435T>CCA7361821EXOC3L4c.216T>C (p.Asp72=)
c.108T>C (p.Asp36=)
c.390T>C (p.Asp130=)
c.327T>C (p.Asp109=)
n.945T>C
n.972T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100435T>GCA391081558EXOC3L4c.216T>G (p.Asp72Glu)
c.108T>G (p.Asp36Glu)
c.390T>G (p.Asp130Glu)
c.327T>G (p.Asp109Glu)
n.945T>G
n.972T>G
14g.103100435T=CA2160140060EXOC3L4c.216T= (p.Asp72=)
c.108T= (p.Asp36=)
c.390T= (p.Asp130=)
c.327T= (p.Asp109=)
n.945T=
n.972T=
14g.103100436A=CA2160140061EXOC3L4c.217A= (p.Thr73=)
c.109A= (p.Thr37=)
c.391A= (p.Thr131=)
c.328A= (p.Thr110=)
n.946A=
n.973A=
14g.103100436A>CCA391081562EXOC3L4c.217A>C (p.Thr73Pro)
c.109A>C (p.Thr37Pro)
c.391A>C (p.Thr131Pro)
c.328A>C (p.Thr110Pro)
n.946A>C
n.973A>C
14g.103100436A>GCA391081565EXOC3L4c.217A>G (p.Thr73Ala)
c.109A>G (p.Thr37Ala)
c.391A>G (p.Thr131Ala)
c.328A>G (p.Thr110Ala)
n.946A>G
n.973A>G
14g.103100436A>TCA267170826EXOC3L4c.217A>T (p.Thr73Ser)
c.109A>T (p.Thr37Ser)
c.391A>T (p.Thr131Ser)
c.328A>T (p.Thr110Ser)
n.946A>T
n.973A>T
 dbSNP
14g.103100437C>ACA391081567EXOC3L4c.218C>A (p.Thr73Lys)
c.110C>A (p.Thr37Lys)
c.392C>A (p.Thr131Lys)
c.329C>A (p.Thr110Lys)
n.947C>A
n.974C>A
14g.103100437C=CA2160140062EXOC3L4c.218C= (p.Thr73=)
c.110C= (p.Thr37=)
c.392C= (p.Thr131=)
c.329C= (p.Thr110=)
n.947C=
n.974C=
14g.103100437C>GCA391081569EXOC3L4c.218C>G (p.Thr73Arg)
c.110C>G (p.Thr37Arg)
c.392C>G (p.Thr131Arg)
c.329C>G (p.Thr110Arg)
n.947C>G
n.974C>G
 dbSNP gnomAD v3 gnomAD v4
14g.103100437C>TCA7361822EXOC3L4c.218C>T (p.Thr73Met)
c.110C>T (p.Thr37Met)
c.392C>T (p.Thr131Met)
c.329C>T (p.Thr110Met)
n.947C>T
n.974C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100438G>ACA7361823EXOC3L4c.219G>A (p.Thr73=)
c.111G>A (p.Thr37=)
c.393G>A (p.Thr131=)
c.330G>A (p.Thr110=)
n.948G>A
n.975G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100438G>CCA488193867EXOC3L4c.219G>C (p.Thr73=)
c.111G>C (p.Thr37=)
c.393G>C (p.Thr131=)
c.330G>C (p.Thr110=)
n.948G>C
n.975G>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100438G=CA2160140063EXOC3L4c.219G= (p.Thr73=)
c.111G= (p.Thr37=)
c.393G= (p.Thr131=)
c.330G= (p.Thr110=)
n.948G=
n.975G=
14g.103100438G>TCA488193868EXOC3L4c.219G>T (p.Thr73=)
c.111G>T (p.Thr37=)
c.393G>T (p.Thr131=)
c.330G>T (p.Thr110=)
n.948G>T
n.975G>T
 gnomAD v4
14g.103100439G>ACA391081576EXOC3L4c.220G>A (p.Gly74Ser)
c.112G>A (p.Gly38Ser)
c.394G>A (p.Gly132Ser)
c.331G>A (p.Gly111Ser)
n.949G>A
n.976G>A
 dbSNP
14g.103100439G>CCA391081578EXOC3L4c.220G>C (p.Gly74Arg)
c.112G>C (p.Gly38Arg)
c.394G>C (p.Gly132Arg)
c.331G>C (p.Gly111Arg)
n.949G>C
n.976G>C
14g.103100439G=CA2160140064EXOC3L4c.220G= (p.Gly74=)
c.112G= (p.Gly38=)
c.394G= (p.Gly132=)
c.331G= (p.Gly111=)
n.949G=
n.976G=
14g.103100439G>TCA391081580EXOC3L4c.220G>T (p.Gly74Cys)
c.112G>T (p.Gly38Cys)
c.394G>T (p.Gly132Cys)
c.331G>T (p.Gly111Cys)
n.949G>T
n.976G>T
14g.103100440G>ACA391081589EXOC3L4c.221G>A (p.Gly74Asp)
c.113G>A (p.Gly38Asp)
c.395G>A (p.Gly132Asp)
c.332G>A (p.Gly111Asp)
n.950G>A
n.977G>A
 dbSNP gnomAD v3 gnomAD v4
14g.103100440G>CCA391081591EXOC3L4c.221G>C (p.Gly74Ala)
c.113G>C (p.Gly38Ala)
c.395G>C (p.Gly132Ala)
c.332G>C (p.Gly111Ala)
n.950G>C
n.977G>C
14g.103100440G=CA2160140065EXOC3L4c.221G= (p.Gly74=)
c.113G= (p.Gly38=)
c.395G= (p.Gly132=)
c.332G= (p.Gly111=)
n.950G=
n.977G=
14g.103100440G>TCA391081593EXOC3L4c.221G>T (p.Gly74Val)
c.113G>T (p.Gly38Val)
c.395G>T (p.Gly132Val)
c.332G>T (p.Gly111Val)
n.950G>T
n.977G>T
14g.103100441C>ACA488193877EXOC3L4c.222C>A (p.Gly74=)
c.114C>A (p.Gly38=)
c.396C>A (p.Gly132=)
c.333C>A (p.Gly111=)
n.951C>A
n.978C>A
 gnomAD v4
14g.103100441C=CA2160140066EXOC3L4c.222C= (p.Gly74=)
c.114C= (p.Gly38=)
c.396C= (p.Gly132=)
c.333C= (p.Gly111=)
n.951C=
n.978C=
14g.103100441C>GCA488193878EXOC3L4c.222C>G (p.Gly74=)
c.114C>G (p.Gly38=)
c.396C>G (p.Gly132=)
c.333C>G (p.Gly111=)
n.951C>G
n.978C>G
14g.103100441C>TCA488193875EXOC3L4c.222C>T (p.Gly74=)
c.114C>T (p.Gly38=)
c.396C>T (p.Gly132=)
c.333C>T (p.Gly111=)
n.951C>T
n.978C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100442C>ACA391081595EXOC3L4c.223C>A (p.Leu75Met)
c.115C>A (p.Leu39Met)
c.397C>A (p.Leu133Met)
c.334C>A (p.Leu112Met)
n.952C>A
n.979C>A
14g.103100442C=CA2160140067EXOC3L4c.223C= (p.Leu75=)
c.115C= (p.Leu39=)
c.397C= (p.Leu133=)
c.334C= (p.Leu112=)
n.952C=
n.979C=
14g.103100442C>GCA391081596EXOC3L4c.223C>G (p.Leu75Val)
c.115C>G (p.Leu39Val)
c.397C>G (p.Leu133Val)
c.334C>G (p.Leu112Val)
n.952C>G
n.979C>G
 dbSNP gnomAD v3 gnomAD v4
14g.103100442C>TCA488193879EXOC3L4c.223C>T (p.Leu75=)
c.115C>T (p.Leu39=)
c.397C>T (p.Leu133=)
c.334C>T (p.Leu112=)
n.952C>T
n.979C>T
 dbSNP gnomAD v4
14g.103100443T>ACA391081600EXOC3L4c.224T>A (p.Leu75Gln)
c.116T>A (p.Leu39Gln)
c.398T>A (p.Leu133Gln)
c.335T>A (p.Leu112Gln)
n.953T>A
n.980T>A
14g.103100443T>CCA391081598EXOC3L4c.224T>C (p.Leu75Pro)
c.116T>C (p.Leu39Pro)
c.398T>C (p.Leu133Pro)
c.335T>C (p.Leu112Pro)
n.953T>C
n.980T>C
 gnomAD v4
14g.103100443T>GCA391081599EXOC3L4c.224T>G (p.Leu75Arg)
c.116T>G (p.Leu39Arg)
c.398T>G (p.Leu133Arg)
c.335T>G (p.Leu112Arg)
n.953T>G
n.980T>G
14g.103100444G>ACA488193883EXOC3L4c.225G>A (p.Leu75=)
c.117G>A (p.Leu39=)
c.399G>A (p.Leu133=)
c.336G>A (p.Leu112=)
n.954G>A
n.981G>A
14g.103100444G>CCA488193881EXOC3L4c.225G>C (p.Leu75=)
c.117G>C (p.Leu39=)
c.399G>C (p.Leu133=)
c.336G>C (p.Leu112=)
n.954G>C
n.981G>C
14g.103100444G>TCA488193882EXOC3L4c.225G>T (p.Leu75=)
c.117G>T (p.Leu39=)
c.399G>T (p.Leu133=)
c.336G>T (p.Leu112=)
n.954G>T
n.981G>T
14g.103100445T>ACA391081603EXOC3L4c.226T>A (p.Phe76Ile)
c.118T>A (p.Phe40Ile)
c.400T>A (p.Phe134Ile)
c.337T>A (p.Phe113Ile)
n.955T>A
n.982T>A
14g.103100445T>CCA7361824EXOC3L4c.226T>C (p.Phe76Leu)
c.118T>C (p.Phe40Leu)
c.400T>C (p.Phe134Leu)
c.337T>C (p.Phe113Leu)
n.955T>C
n.982T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100445T>GCA391081605EXOC3L4c.226T>G (p.Phe76Val)
c.118T>G (p.Phe40Val)
c.400T>G (p.Phe134Val)
c.337T>G (p.Phe113Val)
n.955T>G
n.982T>G
14g.103100445T=CA2160140068EXOC3L4c.226T= (p.Phe76=)
c.118T= (p.Phe40=)
c.400T= (p.Phe134=)
c.337T= (p.Phe113=)
n.955T=
n.982T=
14g.103100446T>ACA391081608EXOC3L4c.227T>A (p.Phe76Tyr)
c.119T>A (p.Phe40Tyr)
c.401T>A (p.Phe134Tyr)
c.338T>A (p.Phe113Tyr)
n.956T>A
n.983T>A
14g.103100446T>CCA391081610EXOC3L4c.227T>C (p.Phe76Ser)
c.119T>C (p.Phe40Ser)
c.401T>C (p.Phe134Ser)
c.338T>C (p.Phe113Ser)
n.956T>C
n.983T>C
14g.103100446T>GCA391081612EXOC3L4c.227T>G (p.Phe76Cys)
c.119T>G (p.Phe40Cys)
c.401T>G (p.Phe134Cys)
c.338T>G (p.Phe113Cys)
n.956T>G
n.983T>G
14g.103100446T=CA2160140069EXOC3L4c.227T= (p.Phe76=)
c.119T= (p.Phe40=)
c.401T= (p.Phe134=)
c.338T= (p.Phe113=)
n.956T=
n.983T=
14g.103100449_103100465dupCA2626692203EXOC3L4c.230_246dup (p.Leu83GlyfsTer15)
c.122_138dup (p.Leu47GlyfsTer15)
c.404_420dup (p.Leu141GlyfsTer15)
c.341_357dup (p.Leu120GlyfsTer15)
n.959_975dup
n.986_1002dup
 gnomAD v4
14g.103100447C>ACA391081614EXOC3L4c.228C>A (p.Phe76Leu)
c.120C>A (p.Phe40Leu)
c.402C>A (p.Phe134Leu)
c.339C>A (p.Phe113Leu)
n.957C>A
n.984C>A
14g.103100447C>GCA391081615EXOC3L4c.228C>G (p.Phe76Leu)
c.120C>G (p.Phe40Leu)
c.402C>G (p.Phe134Leu)
c.339C>G (p.Phe113Leu)
n.957C>G
n.984C>G
 gnomAD v4
14g.103100447C>TCA488193891EXOC3L4c.228C>T (p.Phe76=)
c.120C>T (p.Phe40=)
c.402C>T (p.Phe134=)
c.339C>T (p.Phe113=)
n.957C>T
n.984C>T
14g.103100448dupCA703283854EXOC3L4c.229dup (p.Arg77ProfsTer17)
c.121dup (p.Arg41ProfsTer17)
c.403dup (p.Arg135ProfsTer17)
c.340dup (p.Arg114ProfsTer17)
n.958dup
n.985dup
 dbSNP gnomAD v3 gnomAD v4
14g.103100448C>ACA488193892EXOC3L4c.229C>A (p.Arg77=)
c.121C>A (p.Arg41=)
c.403C>A (p.Arg135=)
c.340C>A (p.Arg114=)
n.958C>A
n.985C>A
 gnomAD v4
14g.103100448C=CA2160140070EXOC3L4c.229C= (p.Arg77=)
c.121C= (p.Arg41=)
c.403C= (p.Arg135=)
c.340C= (p.Arg114=)
n.958C=
n.985C=
14g.103100448C>GCA391081618EXOC3L4c.229C>G (p.Arg77Gly)
c.121C>G (p.Arg41Gly)
c.403C>G (p.Arg135Gly)
c.340C>G (p.Arg114Gly)
n.958C>G
n.985C>G
14g.103100448C>TCA7361825EXOC3L4c.229C>T (p.Arg77Trp)
c.121C>T (p.Arg41Trp)
c.403C>T (p.Arg135Trp)
c.340C>T (p.Arg114Trp)
n.958C>T
n.985C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100449G>ACA7361826EXOC3L4c.230G>A (p.Arg77Gln)
c.122G>A (p.Arg41Gln)
c.404G>A (p.Arg135Gln)
c.341G>A (p.Arg114Gln)
n.959G>A
n.986G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100449G>CCA391081622EXOC3L4c.230G>C (p.Arg77Pro)
c.122G>C (p.Arg41Pro)
c.404G>C (p.Arg135Pro)
c.341G>C (p.Arg114Pro)
n.959G>C
n.986G>C
14g.103100449G=CA2160140071EXOC3L4c.230G= (p.Arg77=)
c.122G= (p.Arg41=)
c.404G= (p.Arg135=)
c.341G= (p.Arg114=)
n.959G=
n.986G=
14g.103100449G>TCA7361827EXOC3L4c.230G>T (p.Arg77Leu)
c.122G>T (p.Arg41Leu)
c.404G>T (p.Arg135Leu)
c.341G>T (p.Arg114Leu)
n.959G>T
n.986G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100450G>ACA488193899EXOC3L4c.231G>A (p.Arg77=)
c.123G>A (p.Arg41=)
c.405G>A (p.Arg135=)
c.342G>A (p.Arg114=)
n.960G>A
n.987G>A
 dbSNP gnomAD v4
14g.103100450G>CCA488193901EXOC3L4c.231G>C (p.Arg77=)
c.123G>C (p.Arg41=)
c.405G>C (p.Arg135=)
c.342G>C (p.Arg114=)
n.960G>C
n.987G>C
14g.103100450G=CA2160140072EXOC3L4c.231G= (p.Arg77=)
c.123G= (p.Arg41=)
c.405G= (p.Arg135=)
c.342G= (p.Arg114=)
n.960G=
n.987G=
14g.103100450G>TCA488193902EXOC3L4c.231G>T (p.Arg77=)
c.123G>T (p.Arg41=)
c.405G>T (p.Arg135=)
c.342G>T (p.Arg114=)
n.960G>T
n.987G>T
14g.103100451C>ACA488193903EXOC3L4c.232C>A (p.Arg78=)
c.124C>A (p.Arg42=)
c.406C>A (p.Arg136=)
c.343C>A (p.Arg115=)
n.961C>A
n.988C>A
 gnomAD v4
14g.103100451C=CA2160140073EXOC3L4c.232C= (p.Arg78=)
c.124C= (p.Arg42=)
c.406C= (p.Arg136=)
c.343C= (p.Arg115=)
n.961C=
n.988C=
14g.103100451C>GCA391081625EXOC3L4c.232C>G (p.Arg78Gly)
c.124C>G (p.Arg42Gly)
c.406C>G (p.Arg136Gly)
c.343C>G (p.Arg115Gly)
n.961C>G
n.988C>G
 dbSNP
14g.103100451C>TCA7361828EXOC3L4c.232C>T (p.Arg78Ter)
c.124C>T (p.Arg42Ter)
c.406C>T (p.Arg136Ter)
c.343C>T (p.Arg115Ter)
n.961C>T
n.988C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100452G>ACA7361829EXOC3L4c.233G>A (p.Arg78Gln)
c.125G>A (p.Arg42Gln)
c.407G>A (p.Arg136Gln)
c.344G>A (p.Arg115Gln)
n.962G>A
n.989G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.103100452G>CCA391081629EXOC3L4c.233G>C (p.Arg78Pro)
c.125G>C (p.Arg42Pro)
c.407G>C (p.Arg136Pro)
c.344G>C (p.Arg115Pro)
n.962G>C
n.989G>C
14g.103100452G=CA2160140074EXOC3L4c.233G= (p.Arg78=)
c.125G= (p.Arg42=)
c.407G= (p.Arg136=)
c.344G= (p.Arg115=)
n.962G=
n.989G=
14g.103100452G>TCA391081631EXOC3L4c.233G>T (p.Arg78Leu)
c.125G>T (p.Arg42Leu)
c.407G>T (p.Arg136Leu)
c.344G>T (p.Arg115Leu)
n.962G>T
n.989G>T
14g.103100453A>CCA488193905EXOC3L4c.234A>C (p.Arg78=)
c.126A>C (p.Arg42=)
c.408A>C (p.Arg136=)
c.345A>C (p.Arg115=)
n.963A>C
n.990A>C
 dbSNP
14g.103100453A>GCA488193906EXOC3L4c.234A>G (p.Arg78=)
c.126A>G (p.Arg42=)
c.408A>G (p.Arg136=)
c.345A>G (p.Arg115=)
n.963A>G
n.990A>G
14g.103100453A>TCA488193907EXOC3L4c.234A>T (p.Arg78=)
c.126A>T (p.Arg42=)
c.408A>T (p.Arg136=)
c.345A>T (p.Arg115=)
n.963A>T
n.990A>T
14g.103100454A>CCA391081632EXOC3L4c.235A>C (p.Ser79Arg)
c.127A>C (p.Ser43Arg)
c.409A>C (p.Ser137Arg)
c.346A>C (p.Ser116Arg)
n.964A>C
n.991A>C
14g.103100454A>GCA391081633EXOC3L4c.235A>G (p.Ser79Gly)
c.127A>G (p.Ser43Gly)
c.409A>G (p.Ser137Gly)
c.346A>G (p.Ser116Gly)
n.964A>G
n.991A>G
14g.103100454A>TCA391081634EXOC3L4c.235A>T (p.Ser79Cys)
c.127A>T (p.Ser43Cys)
c.409A>T (p.Ser137Cys)
c.346A>T (p.Ser116Cys)
n.964A>T
n.991A>T
14g.103100455G>ACA391081635EXOC3L4c.236G>A (p.Ser79Asn)
c.128G>A (p.Ser43Asn)
c.410G>A (p.Ser137Asn)
c.347G>A (p.Ser116Asn)
n.965G>A
n.992G>A
14g.103100455G>CCA391081636EXOC3L4c.236G>C (p.Ser79Thr)
c.128G>C (p.Ser43Thr)
c.410G>C (p.Ser137Thr)
c.347G>C (p.Ser116Thr)
n.965G>C
n.992G>C
14g.103100455G>TCA391081639EXOC3L4c.236G>T (p.Ser79Ile)
c.128G>T (p.Ser43Ile)
c.410G>T (p.Ser137Ile)
c.347G>T (p.Ser116Ile)
n.965G>T
n.992G>T
14g.103100456C>ACA391081641EXOC3L4c.237C>A (p.Ser79Arg)
c.129C>A (p.Ser43Arg)
c.411C>A (p.Ser137Arg)
c.348C>A (p.Ser116Arg)
n.966C>A
n.993C>A
14g.103100456C>GCA391081643EXOC3L4c.237C>G (p.Ser79Arg)
c.129C>G (p.Ser43Arg)
c.411C>G (p.Ser137Arg)
c.348C>G (p.Ser116Arg)
n.966C>G
n.993C>G
14g.103100456C>TCA488193913EXOC3L4c.237C>T (p.Ser79=)
c.129C>T (p.Ser43=)
c.411C>T (p.Ser137=)
c.348C>T (p.Ser116=)
n.966C>T
n.993C>T
 gnomAD v4
14g.103100457T>ACA391081647EXOC3L4c.238T>A (p.Ser80Thr)
c.130T>A (p.Ser44Thr)
c.412T>A (p.Ser138Thr)
c.349T>A (p.Ser117Thr)
n.967T>A
n.994T>A
14g.103100457T>CCA391081644EXOC3L4c.238T>C (p.Ser80Pro)
c.130T>C (p.Ser44Pro)
c.412T>C (p.Ser138Pro)
c.349T>C (p.Ser117Pro)
n.967T>C
n.994T>C
14g.103100457T>GCA391081646EXOC3L4c.238T>G (p.Ser80Ala)
c.130T>G (p.Ser44Ala)
c.412T>G (p.Ser138Ala)
c.349T>G (p.Ser117Ala)
n.967T>G
n.994T>G
14g.103100458C>ACA391081648EXOC3L4c.239C>A (p.Ser80Tyr)
c.131C>A (p.Ser44Tyr)
c.413C>A (p.Ser138Tyr)
c.350C>A (p.Ser117Tyr)
n.968C>A
n.995C>A
14g.103100458C>GCA391081650EXOC3L4c.239C>G (p.Ser80Cys)
c.131C>G (p.Ser44Cys)
c.413C>G (p.Ser138Cys)
c.350C>G (p.Ser117Cys)
n.968C>G
n.995C>G
14g.103100458C>TCA391081651EXOC3L4c.239C>T (p.Ser80Phe)
c.131C>T (p.Ser44Phe)
c.413C>T (p.Ser138Phe)
c.350C>T (p.Ser117Phe)
n.968C>T
n.995C>T
 COSMIC
14g.103100459C>ACA488193919EXOC3L4c.240C>A (p.Ser80=)
c.132C>A (p.Ser44=)
c.414C>A (p.Ser138=)
c.351C>A (p.Ser117=)
n.969C>A
n.996C>A
14g.103100459C=CA2160140075EXOC3L4c.240C= (p.Ser80=)
c.132C= (p.Ser44=)
c.414C= (p.Ser138=)
c.351C= (p.Ser117=)
n.969C=
n.996C=
14g.103100459C>GCA488193921EXOC3L4c.240C>G (p.Ser80=)
c.132C>G (p.Ser44=)
c.414C>G (p.Ser138=)
c.351C>G (p.Ser117=)
n.969C>G
n.996C>G
 dbSNP
14g.103100459C>TCA267170863EXOC3L4c.240C>T (p.Ser80=)
c.132C>T (p.Ser44=)
c.414C>T (p.Ser138=)
c.351C>T (p.Ser117=)
n.969C>T
n.996C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.103100460T>ACA391081656EXOC3L4c.241T>A (p.Cys81Ser)
c.133T>A (p.Cys45Ser)
c.415T>A (p.Cys139Ser)
c.352T>A (p.Cys118Ser)
n.970T>A
n.997T>A
14g.103100460T>CCA391081658EXOC3L4c.241T>C (p.Cys81Arg)
c.133T>C (p.Cys45Arg)
c.415T>C (p.Cys139Arg)
c.352T>C (p.Cys118Arg)
n.970T>C
n.997T>C
14g.103100460T>GCA391081659EXOC3L4c.241T>G (p.Cys81Gly)
c.133T>G (p.Cys45Gly)
c.415T>G (p.Cys139Gly)
c.352T>G (p.Cys118Gly)
n.970T>G
n.997T>G
14g.103100461G>ACA391081660EXOC3L4c.242G>A (p.Cys81Tyr)
c.134G>A (p.Cys45Tyr)
c.416G>A (p.Cys139Tyr)
c.353G>A (p.Cys118Tyr)
n.971G>A
n.998G>A
14g.103100461G>CCA7361830EXOC3L4c.242G>C (p.Cys81Ser)
c.134G>C (p.Cys45Ser)
c.416G>C (p.Cys139Ser)
c.353G>C (p.Cys118Ser)
n.971G>C
n.998G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100461G=CA2160140076EXOC3L4c.242G= (p.Cys81=)
c.134G= (p.Cys45=)
c.416G= (p.Cys139=)
c.353G= (p.Cys118=)
n.971G=
n.998G=
14g.103100461G>TCA391081675EXOC3L4c.242G>T (p.Cys81Phe)
c.134G>T (p.Cys45Phe)
c.416G>T (p.Cys139Phe)
c.353G>T (p.Cys118Phe)
n.971G>T
n.998G>T
14g.103100462C>ACA391081678EXOC3L4c.243C>A (p.Cys81Ter)
c.135C>A (p.Cys45Ter)
c.417C>A (p.Cys139Ter)
c.354C>A (p.Cys118Ter)
n.972C>A
n.999C>A
14g.103100462C>GCA391081680EXOC3L4c.243C>G (p.Cys81Trp)
c.135C>G (p.Cys45Trp)
c.417C>G (p.Cys139Trp)
c.354C>G (p.Cys118Trp)
n.972C>G
n.999C>G
14g.103100462C>TCA488193929EXOC3L4c.243C>T (p.Cys81=)
c.135C>T (p.Cys45=)
c.417C>T (p.Cys139=)
c.354C>T (p.Cys118=)
n.972C>T
n.999C>T
 gnomAD v4
14g.103100463T>ACA7361831EXOC3L4c.244T>A (p.Ser82Thr)
c.136T>A (p.Ser46Thr)
c.418T>A (p.Ser140Thr)
c.355T>A (p.Ser119Thr)
n.973T>A
n.1000T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100463T>CCA391081685EXOC3L4c.244T>C (p.Ser82Pro)
c.136T>C (p.Ser46Pro)
c.418T>C (p.Ser140Pro)
c.355T>C (p.Ser119Pro)
n.973T>C
n.1000T>C
14g.103100463T>GCA391081683EXOC3L4c.244T>G (p.Ser82Ala)
c.136T>G (p.Ser46Ala)
c.418T>G (p.Ser140Ala)
c.355T>G (p.Ser119Ala)
n.973T>G
n.1000T>G
14g.103100463T=CA2160140077EXOC3L4c.244T= (p.Ser82=)
c.136T= (p.Ser46=)
c.418T= (p.Ser140=)
c.355T= (p.Ser119=)
n.973T=
n.1000T=
14g.103100464C>ACA391081691EXOC3L4c.245C>A (p.Ser82Tyr)
c.137C>A (p.Ser46Tyr)
c.419C>A (p.Ser140Tyr)
c.356C>A (p.Ser119Tyr)
n.974C>A
n.1001C>A
14g.103100464C=CA2160140078EXOC3L4c.245C= (p.Ser82=)
c.137C= (p.Ser46=)
c.419C= (p.Ser140=)
c.356C= (p.Ser119=)
n.974C=
n.1001C=
14g.103100464C>GCA391081689EXOC3L4c.245C>G (p.Ser82Cys)
c.137C>G (p.Ser46Cys)
c.419C>G (p.Ser140Cys)
c.356C>G (p.Ser119Cys)
n.974C>G
n.1001C>G
 dbSNP gnomAD v3 gnomAD v4
14g.103100464C>TCA391081693EXOC3L4c.245C>T (p.Ser82Phe)
c.137C>T (p.Ser46Phe)
c.419C>T (p.Ser140Phe)
c.356C>T (p.Ser119Phe)
n.974C>T
n.1001C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100465C>ACA488193934EXOC3L4c.246C>A (p.Ser82=)
c.138C>A (p.Ser46=)
c.420C>A (p.Ser140=)
c.357C>A (p.Ser119=)
n.975C>A
n.1002C>A
14g.103100465C>GCA488193937EXOC3L4c.246C>G (p.Ser82=)
c.138C>G (p.Ser46=)
c.420C>G (p.Ser140=)
c.357C>G (p.Ser119=)
n.975C>G
n.1002C>G
14g.103100465C>TCA488193938EXOC3L4c.246C>T (p.Ser82=)
c.138C>T (p.Ser46=)
c.420C>T (p.Ser140=)
c.357C>T (p.Ser119=)
n.975C>T
n.1002C>T
 gnomAD v4 COSMIC
14g.103100466C>ACA391081695EXOC3L4c.247C>A (p.Leu83Met)
c.139C>A (p.Leu47Met)
c.421C>A (p.Leu141Met)
c.358C>A (p.Leu120Met)
n.976C>A
n.1003C>A
14g.103100466C=CA2160140079EXOC3L4c.247C= (p.Leu83=)
c.139C= (p.Leu47=)
c.421C= (p.Leu141=)
c.358C= (p.Leu120=)
n.976C=
n.1003C=
14g.103100466C>GCA391081697EXOC3L4c.247C>G (p.Leu83Val)
c.139C>G (p.Leu47Val)
c.421C>G (p.Leu141Val)
c.358C>G (p.Leu120Val)
n.976C>G
n.1003C>G
14g.103100466C>TCA488193939EXOC3L4c.247C>T (p.Leu83=)
c.139C>T (p.Leu47=)
c.421C>T (p.Leu141=)
c.358C>T (p.Leu120=)
n.976C>T
n.1003C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100467T>ACA391081700EXOC3L4c.248T>A (p.Leu83Gln)
c.140T>A (p.Leu47Gln)
c.422T>A (p.Leu141Gln)
c.359T>A (p.Leu120Gln)
n.977T>A
n.1004T>A
14g.103100467T>CCA391081701EXOC3L4c.248T>C (p.Leu83Pro)
c.140T>C (p.Leu47Pro)
c.422T>C (p.Leu141Pro)
c.359T>C (p.Leu120Pro)
n.977T>C
n.1004T>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100467T>GCA391081702EXOC3L4c.248T>G (p.Leu83Arg)
c.140T>G (p.Leu47Arg)
c.422T>G (p.Leu141Arg)
c.359T>G (p.Leu120Arg)
n.977T>G
n.1004T>G
14g.103100467T=CA2160140080EXOC3L4c.248T= (p.Leu83=)
c.140T= (p.Leu47=)
c.422T= (p.Leu141=)
c.359T= (p.Leu120=)
n.977T=
n.1004T=
14g.103100468G>ACA488193945EXOC3L4c.249G>A (p.Leu83=)
c.141G>A (p.Leu47=)
c.423G>A (p.Leu141=)
c.360G>A (p.Leu120=)
n.978G>A
n.1005G>A
 gnomAD v4
14g.103100468G>CCA488193946EXOC3L4c.249G>C (p.Leu83=)
c.141G>C (p.Leu47=)
c.423G>C (p.Leu141=)
c.360G>C (p.Leu120=)
n.978G>C
n.1005G>C
 dbSNP
14g.103100468G=CA2160140081EXOC3L4c.249G= (p.Leu83=)
c.141G= (p.Leu47=)
c.423G= (p.Leu141=)
c.360G= (p.Leu120=)
n.978G=
n.1005G=
14g.103100468G>TCA488193955EXOC3L4c.249G>T (p.Leu83=)
c.141G>T (p.Leu47=)
c.423G>T (p.Leu141=)
c.360G>T (p.Leu120=)
n.978G>T
n.1005G>T
 dbSNP
14g.103100469T>ACA391081704EXOC3L4c.250T>A (p.Phe84Ile)
c.142T>A (p.Phe48Ile)
c.424T>A (p.Phe142Ile)
c.361T>A (p.Phe121Ile)
n.979T>A
n.1006T>A
14g.103100469T>CCA391081707EXOC3L4c.250T>C (p.Phe84Leu)
c.142T>C (p.Phe48Leu)
c.424T>C (p.Phe142Leu)
c.361T>C (p.Phe121Leu)
n.979T>C
n.1006T>C
14g.103100469T>GCA391081708EXOC3L4c.250T>G (p.Phe84Val)
c.142T>G (p.Phe48Val)
c.424T>G (p.Phe142Val)
c.361T>G (p.Phe121Val)
n.979T>G
n.1006T>G
14g.103100470T>ACA391081711EXOC3L4c.251T>A (p.Phe84Tyr)
c.143T>A (p.Phe48Tyr)
c.425T>A (p.Phe142Tyr)
c.362T>A (p.Phe121Tyr)
n.980T>A
n.1007T>A
14g.103100470T>CCA391081713EXOC3L4c.251T>C (p.Phe84Ser)
c.143T>C (p.Phe48Ser)
c.425T>C (p.Phe142Ser)
c.362T>C (p.Phe121Ser)
n.980T>C
n.1007T>C
14g.103100470T>GCA391081714EXOC3L4c.251T>G (p.Phe84Cys)
c.143T>G (p.Phe48Cys)
c.425T>G (p.Phe142Cys)
c.362T>G (p.Phe121Cys)
n.980T>G
n.1007T>G
14g.103100471C>ACA391081716EXOC3L4c.252C>A (p.Phe84Leu)
c.144C>A (p.Phe48Leu)
c.426C>A (p.Phe142Leu)
c.363C>A (p.Phe121Leu)
n.981C>A
n.1008C>A
14g.103100471C=CA2160140082EXOC3L4c.252C= (p.Phe84=)
c.144C= (p.Phe48=)
c.426C= (p.Phe142=)
c.363C= (p.Phe121=)
n.981C=
n.1008C=
14g.103100471C>GCA391081718EXOC3L4c.252C>G (p.Phe84Leu)
c.144C>G (p.Phe48Leu)
c.426C>G (p.Phe142Leu)
c.363C>G (p.Phe121Leu)
n.981C>G
n.1008C>G
14g.103100471C>TCA488193961EXOC3L4c.252C>T (p.Phe84=)
c.144C>T (p.Phe48=)
c.426C>T (p.Phe142=)
c.363C>T (p.Phe121=)
n.981C>T
n.1008C>T
 dbSNP gnomAD v4
14g.103100472C>ACA488193963EXOC3L4c.253C>A (p.Arg85=)
c.145C>A (p.Arg49=)
c.427C>A (p.Arg143=)
c.364C>A (p.Arg122=)
n.982C>A
n.1009C>A
14g.103100472C=CA2160140083EXOC3L4c.253C= (p.Arg85=)
c.145C= (p.Arg49=)
c.427C= (p.Arg143=)
c.364C= (p.Arg122=)
n.982C=
n.1009C=
14g.103100472C>GCA391081719EXOC3L4c.253C>G (p.Arg85Gly)
c.145C>G (p.Arg49Gly)
c.427C>G (p.Arg143Gly)
c.364C>G (p.Arg122Gly)
n.982C>G
n.1009C>G
14g.103100472C>TCA7361832EXOC3L4c.253C>T (p.Arg85Trp)
c.145C>T (p.Arg49Trp)
c.427C>T (p.Arg143Trp)
c.364C>T (p.Arg122Trp)
n.982C>T
n.1009C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100473G>ACA7361833EXOC3L4c.254G>A (p.Arg85Gln)
c.146G>A (p.Arg49Gln)
c.428G>A (p.Arg143Gln)
c.365G>A (p.Arg122Gln)
n.983G>A
n.1010G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100473G>CCA391081721EXOC3L4c.254G>C (p.Arg85Pro)
c.146G>C (p.Arg49Pro)
c.428G>C (p.Arg143Pro)
c.365G>C (p.Arg122Pro)
n.983G>C
n.1010G>C
14g.103100473G=CA2160140084EXOC3L4c.254G= (p.Arg85=)
c.146G= (p.Arg49=)
c.428G= (p.Arg143=)
c.365G= (p.Arg122=)
n.983G=
n.1010G=
14g.103100473G>TCA391081723EXOC3L4c.254G>T (p.Arg85Leu)
c.146G>T (p.Arg49Leu)
c.428G>T (p.Arg143Leu)
c.365G>T (p.Arg122Leu)
n.983G>T
n.1010G>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100474G>ACA488193967EXOC3L4c.255G>A (p.Arg85=)
c.147G>A (p.Arg49=)
c.429G>A (p.Arg143=)
c.366G>A (p.Arg122=)
n.984G>A
n.1011G>A
14g.103100474G>CCA488193969EXOC3L4c.255G>C (p.Arg85=)
c.147G>C (p.Arg49=)
c.429G>C (p.Arg143=)
c.366G>C (p.Arg122=)
n.984G>C
n.1011G>C
14g.103100474G>TCA488193968EXOC3L4c.255G>T (p.Arg85=)
c.147G>T (p.Arg49=)
c.429G>T (p.Arg143=)
c.366G>T (p.Arg122=)
n.984G>T
n.1011G>T
14g.103100475T>ACA391081725EXOC3L4c.256T>A (p.Ser86Thr)
c.148T>A (p.Ser50Thr)
c.430T>A (p.Ser144Thr)
c.367T>A (p.Ser123Thr)
n.985T>A
n.1012T>A
14g.103100475T>CCA267170893EXOC3L4c.256T>C (p.Ser86Pro)
c.148T>C (p.Ser50Pro)
c.430T>C (p.Ser144Pro)
c.367T>C (p.Ser123Pro)
n.985T>C
n.1012T>C
 dbSNP
14g.103100475T>GCA391081728EXOC3L4c.256T>G (p.Ser86Ala)
c.148T>G (p.Ser50Ala)
c.430T>G (p.Ser144Ala)
c.367T>G (p.Ser123Ala)
n.985T>G
n.1012T>G
14g.103100475T=CA2160140085EXOC3L4c.256T= (p.Ser86=)
c.148T= (p.Ser50=)
c.430T= (p.Ser144=)
c.367T= (p.Ser123=)
n.985T=
n.1012T=
14g.103100476C>ACA391081730EXOC3L4c.257C>A (p.Ser86Tyr)
c.149C>A (p.Ser50Tyr)
c.431C>A (p.Ser144Tyr)
c.368C>A (p.Ser123Tyr)
n.986C>A
n.1013C>A
14g.103100476C>GCA391081732EXOC3L4c.257C>G (p.Ser86Cys)
c.149C>G (p.Ser50Cys)
c.431C>G (p.Ser144Cys)
c.368C>G (p.Ser123Cys)
n.986C>G
n.1013C>G
14g.103100476C>TCA391081734EXOC3L4c.257C>T (p.Ser86Phe)
c.149C>T (p.Ser50Phe)
c.431C>T (p.Ser144Phe)
c.368C>T (p.Ser123Phe)
n.986C>T
n.1013C>T
 COSMIC
14g.103100477C>ACA488193978EXOC3L4c.258C>A (p.Ser86=)
c.150C>A (p.Ser50=)
c.432C>A (p.Ser144=)
c.369C>A (p.Ser123=)
n.987C>A
n.1014C>A
14g.103100477C>GCA488193979EXOC3L4c.258C>G (p.Ser86=)
c.150C>G (p.Ser50=)
c.432C>G (p.Ser144=)
c.369C>G (p.Ser123=)
n.987C>G
n.1014C>G
14g.103100477C>TCA488193980EXOC3L4c.258C>T (p.Ser86=)
c.150C>T (p.Ser50=)
c.432C>T (p.Ser144=)
c.369C>T (p.Ser123=)
n.987C>T
n.1014C>T
 COSMIC
14g.103100478T>ACA391081736EXOC3L4c.259T>A (p.Phe87Ile)
c.151T>A (p.Phe51Ile)
c.433T>A (p.Phe145Ile)
c.370T>A (p.Phe124Ile)
n.988T>A
n.1015T>A
14g.103100478T>CCA7361834EXOC3L4c.259T>C (p.Phe87Leu)
c.151T>C (p.Phe51Leu)
c.433T>C (p.Phe145Leu)
c.370T>C (p.Phe124Leu)
n.988T>C
n.1015T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100478T>GCA391081739EXOC3L4c.259T>G (p.Phe87Val)
c.151T>G (p.Phe51Val)
c.433T>G (p.Phe145Val)
c.370T>G (p.Phe124Val)
n.988T>G
n.1015T>G
14g.103100478T=CA2160140086EXOC3L4c.259T= (p.Phe87=)
c.151T= (p.Phe51=)
c.433T= (p.Phe145=)
c.370T= (p.Phe124=)
n.988T=
n.1015T=
14g.103100479T>ACA391081744EXOC3L4c.260T>A (p.Phe87Tyr)
c.152T>A (p.Phe51Tyr)
c.434T>A (p.Phe145Tyr)
c.371T>A (p.Phe124Tyr)
n.989T>A
n.1016T>A
14g.103100479T>CCA391081742EXOC3L4c.260T>C (p.Phe87Ser)
c.152T>C (p.Phe51Ser)
c.434T>C (p.Phe145Ser)
c.371T>C (p.Phe124Ser)
n.989T>C
n.1016T>C
14g.103100479T>GCA391081740EXOC3L4c.260T>G (p.Phe87Cys)
c.152T>G (p.Phe51Cys)
c.434T>G (p.Phe145Cys)
c.371T>G (p.Phe124Cys)
n.989T>G
n.1016T>G
 gnomAD v4
14g.103100480C>ACA391081746EXOC3L4c.261C>A (p.Phe87Leu)
c.153C>A (p.Phe51Leu)
c.435C>A (p.Phe145Leu)
c.372C>A (p.Phe124Leu)
n.990C>A
n.1017C>A
14g.103100480C=CA2160140087EXOC3L4c.261C= (p.Phe87=)
c.153C= (p.Phe51=)
c.435C= (p.Phe145=)
c.372C= (p.Phe124=)
n.990C=
n.1017C=
14g.103100480C>GCA391081748EXOC3L4c.261C>G (p.Phe87Leu)
c.153C>G (p.Phe51Leu)
c.435C>G (p.Phe145Leu)
c.372C>G (p.Phe124Leu)
n.990C>G
n.1017C>G
 dbSNP gnomAD v4
14g.103100480C>TCA488193984EXOC3L4c.261C>T (p.Phe87=)
c.153C>T (p.Phe51=)
c.435C>T (p.Phe145=)
c.372C>T (p.Phe124=)
n.990C>T
n.1017C>T
 gnomAD v4
14g.103100481delCA2802897815EXOC3L4c.262del (p.Arg88GlyfsTer4)
c.154del (p.Arg52GlyfsTer4)
c.436del (p.Arg146GlyfsTer4)
c.373del (p.Arg125GlyfsTer4)
n.991del
n.1018del
14g.103100481C>ACA488193986EXOC3L4c.262C>A (p.Arg88=)
c.154C>A (p.Arg52=)
c.436C>A (p.Arg146=)
c.373C>A (p.Arg125=)
n.991C>A
n.1018C>A
 gnomAD v4
14g.103100481C=CA2160140088EXOC3L4c.262C= (p.Arg88=)
c.154C= (p.Arg52=)
c.436C= (p.Arg146=)
c.373C= (p.Arg125=)
n.991C=
n.1018C=
14g.103100481C>GCA391081750EXOC3L4c.262C>G (p.Arg88Gly)
c.154C>G (p.Arg52Gly)
c.436C>G (p.Arg146Gly)
c.373C>G (p.Arg125Gly)
n.991C>G
n.1018C>G
14g.103100481C>TCA7361835EXOC3L4c.262C>T (p.Arg88Trp)
c.154C>T (p.Arg52Trp)
c.436C>T (p.Arg146Trp)
c.373C>T (p.Arg125Trp)
n.991C>T
n.1018C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100482G>ACA7361836EXOC3L4c.263G>A (p.Arg88Gln)
c.155G>A (p.Arg52Gln)
c.437G>A (p.Arg146Gln)
c.374G>A (p.Arg125Gln)
n.992G>A
n.1019G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100482G>CCA391081755EXOC3L4c.263G>C (p.Arg88Pro)
c.155G>C (p.Arg52Pro)
c.437G>C (p.Arg146Pro)
c.374G>C (p.Arg125Pro)
n.992G>C
n.1019G>C
14g.103100482G=CA2160140089EXOC3L4c.263G= (p.Arg88=)
c.155G= (p.Arg52=)
c.437G= (p.Arg146=)
c.374G= (p.Arg125=)
n.992G=
n.1019G=
14g.103100482G>TCA391081757EXOC3L4c.263G>T (p.Arg88Leu)
c.155G>T (p.Arg52Leu)
c.437G>T (p.Arg146Leu)
c.374G>T (p.Arg125Leu)
n.992G>T
n.1019G>T
 gnomAD v4
14g.103100483G>ACA488193991EXOC3L4c.264G>A (p.Arg88=)
c.156G>A (p.Arg52=)
c.438G>A (p.Arg146=)
c.375G>A (p.Arg125=)
n.993G>A
n.1020G>A
14g.103100483G>CCA488193992EXOC3L4c.264G>C (p.Arg88=)
c.156G>C (p.Arg52=)
c.438G>C (p.Arg146=)
c.375G>C (p.Arg125=)
n.993G>C
n.1020G>C
14g.103100483G>TCA488193993EXOC3L4c.264G>T (p.Arg88=)
c.156G>T (p.Arg52=)
c.438G>T (p.Arg146=)
c.375G>T (p.Arg125=)
n.993G>T
n.1020G>T
14g.103100484C>ACA391081759EXOC3L4c.265C>A (p.Gln89Lys)
c.157C>A (p.Gln53Lys)
c.439C>A (p.Gln147Lys)
c.376C>A (p.Gln126Lys)
n.994C>A
n.1021C>A
14g.103100484C>GCA391081760EXOC3L4c.265C>G (p.Gln89Glu)
c.157C>G (p.Gln53Glu)
c.439C>G (p.Gln147Glu)
c.376C>G (p.Gln126Glu)
n.994C>G
n.1021C>G
 gnomAD v4
14g.103100484C>TCA391081761EXOC3L4c.265C>T (p.Gln89Ter)
c.157C>T (p.Gln53Ter)
c.439C>T (p.Gln147Ter)
c.376C>T (p.Gln126Ter)
n.994C>T
n.1021C>T
14g.103100485A>CCA391081764EXOC3L4c.266A>C (p.Gln89Pro)
c.158A>C (p.Gln53Pro)
c.440A>C (p.Gln147Pro)
c.377A>C (p.Gln126Pro)
n.995A>C
n.1022A>C
14g.103100485A>GCA391081766EXOC3L4c.266A>G (p.Gln89Arg)
c.158A>G (p.Gln53Arg)
c.440A>G (p.Gln147Arg)
c.377A>G (p.Gln126Arg)
n.995A>G
n.1022A>G
14g.103100485A>TCA391081768EXOC3L4c.266A>T (p.Gln89Leu)
c.158A>T (p.Gln53Leu)
c.440A>T (p.Gln147Leu)
c.377A>T (p.Gln126Leu)
n.995A>T
n.1022A>T
14g.103100486A=CA2160140091EXOC3L4c.267A= (p.Gln89=)
c.159A= (p.Gln53=)
c.441A= (p.Gln147=)
c.378A= (p.Gln126=)
n.996A=
n.1023A=
14g.103100486A>CCA391081770EXOC3L4c.267A>C (p.Gln89His)
c.159A>C (p.Gln53His)
c.441A>C (p.Gln147His)
c.378A>C (p.Gln126His)
n.996A>C
n.1023A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100486A>GCA488193995EXOC3L4c.267A>G (p.Gln89=)
c.159A>G (p.Gln53=)
c.441A>G (p.Gln147=)
c.378A>G (p.Gln126=)
n.996A>G
n.1023A>G
14g.103100486A>TCA7361837EXOC3L4c.267A>T (p.Gln89His)
c.159A>T (p.Gln53His)
c.441A>T (p.Gln147His)
c.378A>T (p.Gln126His)
n.996A>T
n.1023A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100486_103100487delinsAGCA2160140090EXOC3L4c.267_268delinsAG (p.Gln89=)
c.159_160delinsAG (p.Gln53=)
c.441_442delinsAG (p.Gln147=)
c.378_379delinsAG (p.Gln126=)
n.996_997delinsAG
n.1023_1024delinsAG
14g.103100487delCA616582177EXOC3L4c.268del (p.Ala90ProfsTer2)
c.160del (p.Ala54ProfsTer2)
c.442del (p.Ala148ProfsTer2)
c.379del (p.Ala127ProfsTer2)
n.997del
n.1024del
 dbSNP gnomAD v2 gnomAD v4
14g.103100487G>ACA391081772EXOC3L4c.268G>A (p.Ala90Thr)
c.160G>A (p.Ala54Thr)
c.442G>A (p.Ala148Thr)
c.379G>A (p.Ala127Thr)
n.997G>A
n.1024G>A
14g.103100487G>CCA391081775EXOC3L4c.268G>C (p.Ala90Pro)
c.160G>C (p.Ala54Pro)
c.442G>C (p.Ala148Pro)
c.379G>C (p.Ala127Pro)
n.997G>C
n.1024G>C
14g.103100487G=CA2160140092EXOC3L4c.268G= (p.Ala90=)
c.160G= (p.Ala54=)
c.442G= (p.Ala148=)
c.379G= (p.Ala127=)
n.997G=
n.1024G=
14g.103100487G>TCA391081777EXOC3L4c.268G>T (p.Ala90Ser)
c.160G>T (p.Ala54Ser)
c.442G>T (p.Ala148Ser)
c.379G>T (p.Ala127Ser)
n.997G>T
n.1024G>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100488C>ACA391081779EXOC3L4c.269C>A (p.Ala90Asp)
c.161C>A (p.Ala54Asp)
c.443C>A (p.Ala148Asp)
c.380C>A (p.Ala127Asp)
n.998C>A
n.1025C>A
14g.103100488C>GCA391081782EXOC3L4c.269C>G (p.Ala90Gly)
c.161C>G (p.Ala54Gly)
c.443C>G (p.Ala148Gly)
c.380C>G (p.Ala127Gly)
n.998C>G
n.1025C>G
 gnomAD v4
14g.103100488C>TCA391081784EXOC3L4c.269C>T (p.Ala90Val)
c.161C>T (p.Ala54Val)
c.443C>T (p.Ala148Val)
c.380C>T (p.Ala127Val)
n.998C>T
n.1025C>T
14g.103100489C>ACA488193999EXOC3L4c.270C>A (p.Ala90=)
c.162C>A (p.Ala54=)
c.444C>A (p.Ala148=)
c.381C>A (p.Ala127=)
n.999C>A
n.1026C>A
14g.103100489C=CA2160140093EXOC3L4c.270C= (p.Ala90=)
c.162C= (p.Ala54=)
c.444C= (p.Ala148=)
c.381C= (p.Ala127=)
n.999C=
n.1026C=
14g.103100489C>GCA488194000EXOC3L4c.270C>G (p.Ala90=)
c.162C>G (p.Ala54=)
c.444C>G (p.Ala148=)
c.381C>G (p.Ala127=)
n.999C>G
n.1026C>G
14g.103100489C>TCA488194001EXOC3L4c.270C>T (p.Ala90=)
c.162C>T (p.Ala54=)
c.444C>T (p.Ala148=)
c.381C>T (p.Ala127=)
n.999C>T
n.1026C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100490C>ACA391081786EXOC3L4c.271C>A (p.Leu91Met)
c.163C>A (p.Leu55Met)
c.445C>A (p.Leu149Met)
c.382C>A (p.Leu128Met)
n.1000C>A
n.1027C>A
14g.103100490C>GCA391081788EXOC3L4c.271C>G (p.Leu91Val)
c.163C>G (p.Leu55Val)
c.445C>G (p.Leu149Val)
c.382C>G (p.Leu128Val)
n.1000C>G
n.1027C>G
14g.103100490C>TCA488194002EXOC3L4c.271C>T (p.Leu91=)
c.163C>T (p.Leu55=)
c.445C>T (p.Leu149=)
c.382C>T (p.Leu128=)
n.1000C>T
n.1027C>T
14g.103100491T>ACA391081790EXOC3L4c.272T>A (p.Leu91Gln)
c.164T>A (p.Leu55Gln)
c.446T>A (p.Leu149Gln)
c.383T>A (p.Leu128Gln)
n.1001T>A
n.1028T>A
14g.103100491T>CCA391081792EXOC3L4c.272T>C (p.Leu91Pro)
c.164T>C (p.Leu55Pro)
c.446T>C (p.Leu149Pro)
c.383T>C (p.Leu128Pro)
n.1001T>C
n.1028T>C
14g.103100491T>GCA391081794EXOC3L4c.272T>G (p.Leu91Arg)
c.164T>G (p.Leu55Arg)
c.446T>G (p.Leu149Arg)
c.383T>G (p.Leu128Arg)
n.1001T>G
n.1028T>G
 dbSNP gnomAD v2
14g.103100491T=CA2160140094EXOC3L4c.272T= (p.Leu91=)
c.164T= (p.Leu55=)
c.446T= (p.Leu149=)
c.383T= (p.Leu128=)
n.1001T=
n.1028T=
14g.103100492G>ACA488194007EXOC3L4c.273G>A (p.Leu91=)
c.165G>A (p.Leu55=)
c.447G>A (p.Leu149=)
c.384G>A (p.Leu128=)
n.1002G>A
n.1029G>A
14g.103100492G>CCA488194008EXOC3L4c.273G>C (p.Leu91=)
c.165G>C (p.Leu55=)
c.447G>C (p.Leu149=)
c.384G>C (p.Leu128=)
n.1002G>C
n.1029G>C
 COSMIC
14g.103100492G>TCA488194011EXOC3L4c.273G>T (p.Leu91=)
c.165G>T (p.Leu55=)
c.447G>T (p.Leu149=)
c.384G>T (p.Leu128=)
n.1002G>T
n.1029G>T
 gnomAD v4
14g.103100493A>CCA391081796EXOC3L4c.274A>C (p.Asn92His)
c.166A>C (p.Asn56His)
c.448A>C (p.Asn150His)
c.385A>C (p.Asn129His)
n.1003A>C
n.1030A>C
14g.103100493A>GCA391081798EXOC3L4c.274A>G (p.Asn92Asp)
c.166A>G (p.Asn56Asp)
c.448A>G (p.Asn150Asp)
c.385A>G (p.Asn129Asp)
n.1003A>G
n.1030A>G
 dbSNP
14g.103100493A>TCA391081800EXOC3L4c.274A>T (p.Asn92Tyr)
c.166A>T (p.Asn56Tyr)
c.448A>T (p.Asn150Tyr)
c.385A>T (p.Asn129Tyr)
n.1003A>T
n.1030A>T
14g.103100494A=CA2160140095EXOC3L4c.275A= (p.Asn92=)
c.167A= (p.Asn56=)
c.449A= (p.Asn150=)
c.386A= (p.Asn129=)
n.1004A=
n.1031A=
14g.103100494A>CCA391081805EXOC3L4c.275A>C (p.Asn92Thr)
c.167A>C (p.Asn56Thr)
c.449A>C (p.Asn150Thr)
c.386A>C (p.Asn129Thr)
n.1004A>C
n.1031A>C
14g.103100494A>GCA7361838EXOC3L4c.275A>G (p.Asn92Ser)
c.167A>G (p.Asn56Ser)
c.449A>G (p.Asn150Ser)
c.386A>G (p.Asn129Ser)
n.1004A>G
n.1031A>G
 dbSNP ExAC gnomAD v2
14g.103100494A>TCA391081802EXOC3L4c.275A>T (p.Asn92Ile)
c.167A>T (p.Asn56Ile)
c.449A>T (p.Asn150Ile)
c.386A>T (p.Asn129Ile)
n.1004A>T
n.1031A>T
14g.103100495T>ACA391081808EXOC3L4c.276T>A (p.Asn92Lys)
c.168T>A (p.Asn56Lys)
c.450T>A (p.Asn150Lys)
c.387T>A (p.Asn129Lys)
n.1005T>A
n.1032T>A
14g.103100495T>CCA488194015EXOC3L4c.276T>C (p.Asn92=)
c.168T>C (p.Asn56=)
c.450T>C (p.Asn150=)
c.387T>C (p.Asn129=)
n.1005T>C
n.1032T>C
14g.103100495T>GCA391081810EXOC3L4c.276T>G (p.Asn92Lys)
c.168T>G (p.Asn56Lys)
c.450T>G (p.Asn150Lys)
c.387T>G (p.Asn129Lys)
n.1005T>G
n.1032T>G
14g.103100496G>ACA391081812EXOC3L4c.277G>A (p.Asp93Asn)
c.169G>A (p.Asp57Asn)
c.451G>A (p.Asp151Asn)
c.388G>A (p.Asp130Asn)
n.1006G>A
n.1033G>A
14g.103100496G>CCA391081815EXOC3L4c.277G>C (p.Asp93His)
c.169G>C (p.Asp57His)
c.451G>C (p.Asp151His)
c.388G>C (p.Asp130His)
n.1006G>C
n.1033G>C
14g.103100496G>TCA391081814EXOC3L4c.277G>T (p.Asp93Tyr)
c.169G>T (p.Asp57Tyr)
c.451G>T (p.Asp151Tyr)
c.388G>T (p.Asp130Tyr)
n.1006G>T
n.1033G>T
14g.103100497_103100499delCA2626692205EXOC3L4c.278_280del (p.Asp93del)
c.170_172del (p.Asp57del)
c.452_454del (p.Asp151del)
c.389_391del (p.Asp130del)
n.1007_1009del
n.1034_1036del
 gnomAD v4
14g.103100497A=CA2160140096EXOC3L4c.278A= (p.Asp93=)
c.170A= (p.Asp57=)
c.452A= (p.Asp151=)
c.389A= (p.Asp130=)
n.1007A=
n.1034A=
14g.103100497A>CCA7361839EXOC3L4c.278A>C (p.Asp93Ala)
c.170A>C (p.Asp57Ala)
c.452A>C (p.Asp151Ala)
c.389A>C (p.Asp130Ala)
n.1007A>C
n.1034A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100497A>GCA391081820EXOC3L4c.278A>G (p.Asp93Gly)
c.170A>G (p.Asp57Gly)
c.452A>G (p.Asp151Gly)
c.389A>G (p.Asp130Gly)
n.1007A>G
n.1034A>G
14g.103100497A>TCA391081822EXOC3L4c.278A>T (p.Asp93Val)
c.170A>T (p.Asp57Val)
c.452A>T (p.Asp151Val)
c.389A>T (p.Asp130Val)
n.1007A>T
n.1034A>T
14g.103100498C>ACA391081823EXOC3L4c.279C>A (p.Asp93Glu)
c.171C>A (p.Asp57Glu)
c.453C>A (p.Asp151Glu)
c.390C>A (p.Asp130Glu)
n.1008C>A
n.1035C>A
14g.103100498C=CA2160140097EXOC3L4c.279C= (p.Asp93=)
c.171C= (p.Asp57=)
c.453C= (p.Asp151=)
c.390C= (p.Asp130=)
n.1008C=
n.1035C=
14g.103100498C>GCA7361840EXOC3L4c.279C>G (p.Asp93Glu)
c.171C>G (p.Asp57Glu)
c.453C>G (p.Asp151Glu)
c.390C>G (p.Asp130Glu)
n.1008C>G
n.1035C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100498C>TCA7361841EXOC3L4c.279C>T (p.Asp93=)
c.171C>T (p.Asp57=)
c.453C>T (p.Asp151=)
c.390C>T (p.Asp130=)
n.1008C>T
n.1035C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100499G>ACA7361842EXOC3L4c.280G>A (p.Gly94Ser)
c.172G>A (p.Gly58Ser)
c.454G>A (p.Gly152Ser)
c.391G>A (p.Gly131Ser)
n.1009G>A
n.1036G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.103100499G>CCA391081826EXOC3L4c.280G>C (p.Gly94Arg)
c.172G>C (p.Gly58Arg)
c.454G>C (p.Gly152Arg)
c.391G>C (p.Gly131Arg)
n.1009G>C
n.1036G>C
 gnomAD v4
14g.103100499G=CA2160140098EXOC3L4c.280G= (p.Gly94=)
c.172G= (p.Gly58=)
c.454G= (p.Gly152=)
c.391G= (p.Gly131=)
n.1009G=
n.1036G=
14g.103100499G>TCA391081828EXOC3L4c.280G>T (p.Gly94Cys)
c.172G>T (p.Gly58Cys)
c.454G>T (p.Gly152Cys)
c.391G>T (p.Gly131Cys)
n.1009G>T
n.1036G>T
14g.103100500delCA2730322786EXOC3L4c.281del (p.Gly94AlafsTer18)
c.173del (p.Gly58AlafsTer18)
c.455del (p.Gly152AlafsTer18)
c.392del (p.Gly131AlafsTer18)
n.1010del
n.1037del
 dbSNP
14g.103100500G>ACA391081836EXOC3L4c.281G>A (p.Gly94Asp)
c.173G>A (p.Gly58Asp)
c.455G>A (p.Gly152Asp)
c.392G>A (p.Gly131Asp)
n.1010G>A
n.1037G>A
 gnomAD v4
14g.103100500G>CCA391081838EXOC3L4c.281G>C (p.Gly94Ala)
c.173G>C (p.Gly58Ala)
c.455G>C (p.Gly152Ala)
c.392G>C (p.Gly131Ala)
n.1010G>C
n.1037G>C
14g.103100500G>TCA391081840EXOC3L4c.281G>T (p.Gly94Val)
c.173G>T (p.Gly58Val)
c.455G>T (p.Gly152Val)
c.392G>T (p.Gly131Val)
n.1010G>T
n.1037G>T
14g.103100502_103100506delCA2626692206EXOC3L4c.283_287del (p.Pro95TyrfsTer9)
c.175_179del (p.Pro59TyrfsTer9)
c.457_461del (p.Pro153TyrfsTer9)
c.394_398del (p.Pro132TyrfsTer9)
n.1012_1016del
n.1039_1043del
 gnomAD v4
14g.103100501C>ACA488194030EXOC3L4c.282C>A (p.Gly94=)
c.174C>A (p.Gly58=)
c.456C>A (p.Gly152=)
c.393C>A (p.Gly131=)
n.1011C>A
n.1038C>A
14g.103100501C>GCA488194032EXOC3L4c.282C>G (p.Gly94=)
c.174C>G (p.Gly58=)
c.456C>G (p.Gly152=)
c.393C>G (p.Gly131=)
n.1011C>G
n.1038C>G
14g.103100501C>TCA488194034EXOC3L4c.282C>T (p.Gly94=)
c.174C>T (p.Gly58=)
c.456C>T (p.Gly152=)
c.393C>T (p.Gly131=)
n.1011C>T
n.1038C>T

Number of alleles fetched