Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.29702754_29702797delCA2584189483C19orf12c.342_385del (p.Glu115HisfsTer11)
n.733_776del
c.150_193del (p.Glu51HisfsTer11)
c.375_418del (p.Glu126HisfsTer11)
c.291-4_*6del
c.504_547del (p.Glu169HisfsTer11)
 gnomAD v4
19g.29702763dupCA9351871C19orf12c.376dup (p.Val126GlyfsTer15)
n.767dup
c.184dup (p.Val62GlyfsTer15)
c.409dup (p.Val137GlyfsTer15)
c.321dup (p.Ter108ValextTer17)
c.538dup (p.Val180GlyfsTer15)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702763C>ACA405142412C19orf12c.375G>T (p.Leu125=)
n.766G>T
c.183G>T (p.Leu61=)
c.408G>T (p.Leu136=)
c.320G>T (p.Trp107Leu)
c.537G>T (p.Leu179=)
 gnomAD v4
19g.29702763C>GCA405142413C19orf12c.375G>C (p.Leu125=)
n.766G>C
c.183G>C (p.Leu61=)
c.408G>C (p.Leu136=)
c.320G>C (p.Trp107Ser)
c.537G>C (p.Leu179=)
19g.29702763C>TCA405142414C19orf12c.375G>A (p.Leu125=)
n.766G>A
c.183G>A (p.Leu61=)
c.408G>A (p.Leu136=)
c.320G>A (p.Trp107Ter)
c.537G>A (p.Leu179=)
19g.29702764A>CCA405142415C19orf12c.374T>G (p.Leu125Arg)
n.765T>G
c.182T>G (p.Leu61Arg)
c.407T>G (p.Leu136Arg)
c.319T>G (p.Trp107Gly)
c.536T>G (p.Leu179Arg)
19g.29702764A>GCA405142417C19orf12c.374T>C (p.Leu125Pro)
n.765T>C
c.182T>C (p.Leu61Pro)
c.407T>C (p.Leu136Pro)
c.319T>C (p.Trp107Arg)
c.536T>C (p.Leu179Pro)
19g.29702764A>TCA405142416C19orf12c.374T>A (p.Leu125Gln)
n.765T>A
c.182T>A (p.Leu61Gln)
c.407T>A (p.Leu136Gln)
c.319T>A (p.Trp107Arg)
c.536T>A (p.Leu179Gln)
19g.29702765G>ACA506986624C19orf12c.373C>T (p.Leu125=)
n.764C>T
c.181C>T (p.Leu61=)
c.406C>T (p.Leu136=)
c.318C>T (p.Cys106=)
c.535C>T (p.Leu179=)
 dbSNP gnomAD v2 gnomAD v4
19g.29702765G>CCA405142420C19orf12c.373C>G (p.Leu125Val)
n.764C>G
c.181C>G (p.Leu61Val)
c.406C>G (p.Leu136Val)
c.318C>G (p.Cys106Trp)
c.535C>G (p.Leu179Val)
19g.29702765G=CA2330913524C19orf12c.373C= (p.Leu125=)
n.764C=
c.181C= (p.Leu61=)
c.406C= (p.Leu136=)
c.318C= (p.Cys106=)
c.535C= (p.Leu179=)
19g.29702765G>TCA405142422C19orf12c.373C>A (p.Leu125Met)
n.764C>A
c.181C>A (p.Leu61Met)
c.406C>A (p.Leu136Met)
c.318C>A (p.Cys106Ter)
c.535C>A (p.Leu179Met)
19g.29702766C>ACA405142426C19orf12c.372G>T (p.Met124Ile)
n.763G>T
c.180G>T (p.Met60Ile)
c.405G>T (p.Met135Ile)
c.317G>T (p.Cys106Phe)
c.534G>T (p.Met178Ile)
19g.29702766C=CA2330913525C19orf12c.372G= (p.Met124=)
n.763G=
c.180G= (p.Met60=)
c.405G= (p.Met135=)
c.317G= (p.Cys106=)
c.534G= (p.Met178=)
19g.29702766C>GCA405142428C19orf12c.372G>C (p.Met124Ile)
n.763G>C
c.180G>C (p.Met60Ile)
c.405G>C (p.Met135Ile)
c.317G>C (p.Cys106Ser)
c.534G>C (p.Met178Ile)
19g.29702766C>TCA405142430C19orf12c.372G>A (p.Met124Ile)
n.763G>A
c.180G>A (p.Met60Ile)
c.405G>A (p.Met135Ile)
c.317G>A (p.Cys106Tyr)
c.534G>A (p.Met178Ile)
 gnomAD v4
19g.29702767A=CA2330913526C19orf12c.371T= (p.Met124=)
n.762T=
c.179T= (p.Met60=)
c.404T= (p.Met135=)
c.316T= (p.Cys106=)
c.533T= (p.Met178=)
19g.29702767A>CCA405142431C19orf12c.371T>G (p.Met124Arg)
n.762T>G
c.179T>G (p.Met60Arg)
c.404T>G (p.Met135Arg)
c.316T>G (p.Cys106Gly)
c.533T>G (p.Met178Arg)
19g.29702767A>GCA405142434C19orf12c.371T>C (p.Met124Thr)
n.762T>C
c.179T>C (p.Met60Thr)
c.404T>C (p.Met135Thr)
c.316T>C (p.Cys106Arg)
c.533T>C (p.Met178Thr)
 ClinVar dbSNP
19g.29702767A>TCA405142432C19orf12c.371T>A (p.Met124Lys)
n.762T>A
c.179T>A (p.Met60Lys)
c.404T>A (p.Met135Lys)
c.316T>A (p.Cys106Ser)
c.533T>A (p.Met178Lys)
19g.29702767dupCA913190707C19orf12c.371dup (p.Met124IlefsTer17)
n.762dup
c.179dup (p.Met60IlefsTer17)
c.404dup (p.Met135IlefsTer17)
c.316dup (p.Cys106LeufsTer19)
c.533dup (p.Met178IlefsTer17)
 ClinVar dbSNP gnomAD v4
19g.29702768T>ACA405142436C19orf12c.370A>T (p.Met124Leu)
n.761A>T
c.178A>T (p.Met60Leu)
c.403A>T (p.Met135Leu)
c.315A>T (p.Pro105=)
c.532A>T (p.Met178Leu)
19g.29702768T>CCA306785201C19orf12c.370A>G (p.Met124Val)
n.761A>G
c.178A>G (p.Met60Val)
c.403A>G (p.Met135Val)
c.315A>G (p.Pro105=)
c.532A>G (p.Met178Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.29702768T>GCA405142437C19orf12c.370A>C (p.Met124Leu)
n.761A>C
c.178A>C (p.Met60Leu)
c.403A>C (p.Met135Leu)
c.315A>C (p.Pro105=)
c.532A>C (p.Met178Leu)
19g.29702768T=CA2330913527C19orf12c.370A= (p.Met124=)
n.761A=
c.178A= (p.Met60=)
c.403A= (p.Met135=)
c.315A= (p.Pro105=)
c.532A= (p.Met178=)
19g.29702769G>ACA405142440C19orf12c.369C>T (p.Ala123=)
n.760C>T
c.177C>T (p.Ala59=)
c.402C>T (p.Ala134=)
c.314C>T (p.Pro105Leu)
c.531C>T (p.Ala177=)
19g.29702769G>CCA405142443C19orf12c.369C>G (p.Ala123=)
n.760C>G
c.177C>G (p.Ala59=)
c.402C>G (p.Ala134=)
c.314C>G (p.Pro105Arg)
c.531C>G (p.Ala177=)
19g.29702769G>TCA405142445C19orf12c.369C>A (p.Ala123=)
n.760C>A
c.177C>A (p.Ala59=)
c.402C>A (p.Ala134=)
c.314C>A (p.Pro105Gln)
c.531C>A (p.Ala177=)
19g.29702770G>ACA405142448C19orf12c.368C>T (p.Ala123Val)
n.759C>T
c.176C>T (p.Ala59Val)
c.401C>T (p.Ala134Val)
c.313C>T (p.Pro105Ser)
c.530C>T (p.Ala177Val)
19g.29702770G>CCA405142449C19orf12c.368C>G (p.Ala123Gly)
n.759C>G
c.176C>G (p.Ala59Gly)
c.401C>G (p.Ala134Gly)
c.313C>G (p.Pro105Ala)
c.530C>G (p.Ala177Gly)
19g.29702770G>TCA405142452C19orf12c.368C>A (p.Ala123Asp)
n.759C>A
c.176C>A (p.Ala59Asp)
c.401C>A (p.Ala134Asp)
c.313C>A (p.Pro105Thr)
c.530C>A (p.Ala177Asp)
19g.29702771C>ACA405142456C19orf12c.367G>T (p.Ala123Ser)
n.758G>T
c.175G>T (p.Ala59Ser)
c.400G>T (p.Ala134Ser)
c.312G>T (p.Trp104Cys)
c.529G>T (p.Ala177Ser)
 gnomAD v4
19g.29702771C=CA2330913528C19orf12c.367G= (p.Ala123=)
n.758G=
c.175G= (p.Ala59=)
c.400G= (p.Ala134=)
c.312G= (p.Trp104=)
c.529G= (p.Ala177=)
19g.29702771C>GCA405142461C19orf12c.367G>C (p.Ala123Pro)
n.758G>C
c.175G>C (p.Ala59Pro)
c.400G>C (p.Ala134Pro)
c.312G>C (p.Trp104Cys)
c.529G>C (p.Ala177Pro)
 dbSNP gnomAD v4
19g.29702771C>TCA405142463C19orf12c.367G>A (p.Ala123Thr)
n.758G>A
c.175G>A (p.Ala59Thr)
c.400G>A (p.Ala134Thr)
c.312G>A (p.Trp104Ter)
c.529G>A (p.Ala177Thr)
19g.29702772C>ACA405142469C19orf12c.366G>T (p.Leu122=)
n.757G>T
c.174G>T (p.Leu58=)
c.399G>T (p.Leu133=)
c.311G>T (p.Trp104Leu)
c.528G>T (p.Leu176=)
19g.29702772C>GCA405142466C19orf12c.366G>C (p.Leu122=)
n.757G>C
c.174G>C (p.Leu58=)
c.399G>C (p.Leu133=)
c.311G>C (p.Trp104Ser)
c.528G>C (p.Leu176=)
19g.29702772C>TCA405142467C19orf12c.366G>A (p.Leu122=)
n.757G>A
c.174G>A (p.Leu58=)
c.399G>A (p.Leu133=)
c.311G>A (p.Trp104Ter)
c.528G>A (p.Leu176=)
19g.29702773A>CCA405142471C19orf12c.365T>G (p.Leu122Arg)
n.756T>G
c.173T>G (p.Leu58Arg)
c.398T>G (p.Leu133Arg)
c.310T>G (p.Trp104Gly)
c.527T>G (p.Leu176Arg)
19g.29702773A>GCA405142473C19orf12c.365T>C (p.Leu122Pro)
n.756T>C
c.173T>C (p.Leu58Pro)
c.398T>C (p.Leu133Pro)
c.310T>C (p.Trp104Arg)
c.527T>C (p.Leu176Pro)
19g.29702773A>TCA405142476C19orf12c.365T>A (p.Leu122Gln)
n.756T>A
c.173T>A (p.Leu58Gln)
c.398T>A (p.Leu133Gln)
c.310T>A (p.Trp104Arg)
c.527T>A (p.Leu176Gln)
19g.29702774G>ACA506986674C19orf12c.364C>T (p.Leu122=)
n.755C>T
c.172C>T (p.Leu58=)
c.397C>T (p.Leu133=)
c.309C>T (p.Cys103=)
c.526C>T (p.Leu176=)
 dbSNP gnomAD v3 gnomAD v4
19g.29702774G>CCA405142479C19orf12c.364C>G (p.Leu122Val)
n.755C>G
c.172C>G (p.Leu58Val)
c.397C>G (p.Leu133Val)
c.309C>G (p.Cys103Trp)
c.526C>G (p.Leu176Val)
19g.29702774G=CA2330913529C19orf12c.364C= (p.Leu122=)
n.755C=
c.172C= (p.Leu58=)
c.397C= (p.Leu133=)
c.309C= (p.Cys103=)
c.526C= (p.Leu176=)
19g.29702774G>TCA405142480C19orf12c.364C>A (p.Leu122Met)
n.755C>A
c.172C>A (p.Leu58Met)
c.397C>A (p.Leu133Met)
c.309C>A (p.Cys103Ter)
c.526C>A (p.Leu176Met)
19g.29702775C>ACA405142489C19orf12c.363G>T (p.Leu121=)
n.754G>T
c.171G>T (p.Leu57=)
c.396G>T (p.Leu132=)
c.308G>T (p.Cys103Phe)
c.525G>T (p.Leu175=)
 dbSNP gnomAD v3 gnomAD v4
19g.29702775C=CA2330913530C19orf12c.363G= (p.Leu121=)
n.754G=
c.171G= (p.Leu57=)
c.396G= (p.Leu132=)
c.308G= (p.Cys103=)
c.525G= (p.Leu175=)
19g.29702775C>GCA405142486C19orf12c.363G>C (p.Leu121=)
n.754G>C
c.171G>C (p.Leu57=)
c.396G>C (p.Leu132=)
c.308G>C (p.Cys103Ser)
c.525G>C (p.Leu175=)
19g.29702775C>TCA405142484C19orf12c.363G>A (p.Leu121=)
n.754G>A
c.171G>A (p.Leu57=)
c.396G>A (p.Leu132=)
c.308G>A (p.Cys103Tyr)
c.525G>A (p.Leu175=)
19g.29702776A=CA2330913531C19orf12c.362T= (p.Leu121=)
n.753T=
c.170T= (p.Leu57=)
c.395T= (p.Leu132=)
c.307T= (p.Cys103=)
c.524T= (p.Leu175=)
19g.29702776A>CCA405142491C19orf12c.362T>G (p.Leu121Arg)
n.753T>G
c.170T>G (p.Leu57Arg)
c.395T>G (p.Leu132Arg)
c.307T>G (p.Cys103Gly)
c.524T>G (p.Leu175Arg)
19g.29702776A>GCA405142494C19orf12c.362T>C (p.Leu121Pro)
n.753T>C
c.170T>C (p.Leu57Pro)
c.395T>C (p.Leu132Pro)
c.307T>C (p.Cys103Arg)
c.524T>C (p.Leu175Pro)
 gnomAD v4
19g.29702776A>TCA260038C19orf12c.362T>A (p.Leu121Gln)
n.753T>A
c.170T>A (p.Leu57Gln)
c.395T>A (p.Leu132Gln)
c.307T>A (p.Cys103Ser)
c.524T>A (p.Leu175Gln)
 ClinVar dbSNP
19g.29702777G>ACA506986694C19orf12c.361C>T (p.Leu121=)
n.752C>T
c.169C>T (p.Leu57=)
c.394C>T (p.Leu132=)
c.306C>T (p.Ser102=)
c.523C>T (p.Leu175=)
19g.29702777G>CCA405142500C19orf12c.361C>G (p.Leu121Val)
n.752C>G
c.169C>G (p.Leu57Val)
c.394C>G (p.Leu132Val)
c.306C>G (p.Ser102Arg)
c.523C>G (p.Leu175Val)
19g.29702777G>TCA405142501C19orf12c.361C>A (p.Leu121Met)
n.752C>A
c.169C>A (p.Leu57Met)
c.394C>A (p.Leu132Met)
c.306C>A (p.Ser102Arg)
c.523C>A (p.Leu175Met)
19g.29702785_29702787dupCA9351873C19orf12c.359_361dup (p.Gln120_Leu121insGln)
n.750_752dup
c.167_169dup (p.Gln56_Leu57insGln)
c.392_394dup (p.Gln131_Leu132insGln)
c.304_306dup (p.Ser102_Cys103insSer)
c.521_523dup (p.Gln174_Leu175insGln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702778C>ACA405142508C19orf12c.360G>T (p.Gln120His)
n.751G>T
c.168G>T (p.Gln56His)
c.393G>T (p.Gln131His)
c.305G>T (p.Ser102Ile)
c.522G>T (p.Gln174His)
19g.29702778C>GCA405142505C19orf12c.360G>C (p.Gln120His)
n.751G>C
c.168G>C (p.Gln56His)
c.393G>C (p.Gln131His)
c.305G>C (p.Ser102Thr)
c.522G>C (p.Gln174His)
19g.29702778C>TCA405142506C19orf12c.360G>A (p.Gln120=)
n.751G>A
c.168G>A (p.Gln56=)
c.393G>A (p.Gln131=)
c.305G>A (p.Ser102Asn)
c.522G>A (p.Gln174=)
19g.29702779T>ACA405142511C19orf12c.359A>T (p.Gln120Leu)
n.750A>T
c.167A>T (p.Gln56Leu)
c.392A>T (p.Gln131Leu)
c.304A>T (p.Ser102Cys)
c.521A>T (p.Gln174Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.29702779T>CCA405142514C19orf12c.359A>G (p.Gln120Arg)
n.750A>G
c.167A>G (p.Gln56Arg)
c.392A>G (p.Gln131Arg)
c.304A>G (p.Ser102Gly)
c.521A>G (p.Gln174Arg)
 COSMIC COSMIC
19g.29702779T>GCA405142516C19orf12c.359A>C (p.Gln120Pro)
n.750A>C
c.167A>C (p.Gln56Pro)
c.392A>C (p.Gln131Pro)
c.304A>C (p.Ser102Arg)
c.521A>C (p.Gln174Pro)
19g.29702779T=CA2330913532C19orf12c.359A= (p.Gln120=)
n.750A=
c.167A= (p.Gln56=)
c.392A= (p.Gln131=)
c.304A= (p.Ser102=)
c.521A= (p.Gln174=)
19g.29702780G>ACA405142519C19orf12c.358C>T (p.Gln120Ter)
n.749C>T
c.166C>T (p.Gln56Ter)
c.391C>T (p.Gln131Ter)
c.303C>T (p.Ser101=)
c.520C>T (p.Gln174Ter)
 gnomAD v4
19g.29702780G>CCA405142521C19orf12c.358C>G (p.Gln120Glu)
n.749C>G
c.166C>G (p.Gln56Glu)
c.391C>G (p.Gln131Glu)
c.303C>G (p.Ser101Arg)
c.520C>G (p.Gln174Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.29702780G=CA2330913533C19orf12c.358C= (p.Gln120=)
n.749C=
c.166C= (p.Gln56=)
c.391C= (p.Gln131=)
c.303C= (p.Ser101=)
c.520C= (p.Gln174=)
19g.29702780G>TCA405142524C19orf12c.358C>A (p.Gln120Lys)
n.749C>A
c.166C>A (p.Gln56Lys)
c.391C>A (p.Gln131Lys)
c.303C>A (p.Ser101Arg)
c.520C>A (p.Gln174Lys)
19g.29702781C>ACA405142528C19orf12c.357G>T (p.Gln119His)
n.748G>T
c.165G>T (p.Gln55His)
c.390G>T (p.Gln130His)
c.302G>T (p.Ser101Ile)
c.519G>T (p.Gln173His)
19g.29702781C=CA2330913534C19orf12c.357G= (p.Gln119=)
n.748G=
c.165G= (p.Gln55=)
c.390G= (p.Gln130=)
c.302G= (p.Ser101=)
c.519G= (p.Gln173=)
19g.29702781C>GCA405142529C19orf12c.357G>C (p.Gln119His)
n.748G>C
c.165G>C (p.Gln55His)
c.390G>C (p.Gln130His)
c.302G>C (p.Ser101Thr)
c.519G>C (p.Gln173His)
 dbSNP gnomAD v2 gnomAD v4
19g.29702781C>TCA405142532C19orf12c.357G>A (p.Gln119=)
n.748G>A
c.165G>A (p.Gln55=)
c.390G>A (p.Gln130=)
c.302G>A (p.Ser101Asn)
c.519G>A (p.Gln173=)
 COSMIC COSMIC
19g.29702782T>ACA405142535C19orf12c.356A>T (p.Gln119Leu)
n.747A>T
c.164A>T (p.Gln55Leu)
c.389A>T (p.Gln130Leu)
c.301A>T (p.Ser101Cys)
c.518A>T (p.Gln173Leu)
19g.29702782T>CCA306785205C19orf12c.356A>G (p.Gln119Arg)
n.747A>G
c.164A>G (p.Gln55Arg)
c.389A>G (p.Gln130Arg)
c.301A>G (p.Ser101Gly)
c.518A>G (p.Gln173Arg)
 ClinVar dbSNP
19g.29702782T>GCA405142539C19orf12c.356A>C (p.Gln119Pro)
n.747A>C
c.164A>C (p.Gln55Pro)
c.389A>C (p.Gln130Pro)
c.301A>C (p.Ser101Arg)
c.518A>C (p.Gln173Pro)
19g.29702782T=CA2330913535C19orf12c.356A= (p.Gln119=)
n.747A=
c.164A= (p.Gln55=)
c.389A= (p.Gln130=)
c.301A= (p.Ser101=)
c.518A= (p.Gln173=)
19g.29702783G>ACA405142542C19orf12c.355C>T (p.Gln119Ter)
n.746C>T
c.163C>T (p.Gln55Ter)
c.388C>T (p.Gln130Ter)
c.300C>T (p.Ser100=)
c.517C>T (p.Gln173Ter)
19g.29702783G>CCA405142546C19orf12c.355C>G (p.Gln119Glu)
n.746C>G
c.163C>G (p.Gln55Glu)
c.388C>G (p.Gln130Glu)
c.300C>G (p.Ser100Arg)
c.517C>G (p.Gln173Glu)
19g.29702783G>TCA405142544C19orf12c.355C>A (p.Gln119Lys)
n.746C>A
c.163C>A (p.Gln55Lys)
c.388C>A (p.Gln130Lys)
c.300C>A (p.Ser100Arg)
c.517C>A (p.Gln173Lys)
19g.29702788_29702800delCA2576739842C19orf12c.343_355del (p.Glu115SerfsTer8)
n.734_746del
c.151_163del (p.Glu51SerfsTer8)
c.376_388del (p.Glu126SerfsTer8)
c.291-3_300del
c.505_517del (p.Glu169SerfsTer8)
 gnomAD v4
19g.29702784C>ACA405142549C19orf12c.354G>T (p.Gln118His)
n.745G>T
c.162G>T (p.Gln54His)
c.387G>T (p.Gln129His)
c.299G>T (p.Ser100Ile)
c.516G>T (p.Gln172His)
19g.29702784C>GCA405142551C19orf12c.354G>C (p.Gln118His)
n.745G>C
c.162G>C (p.Gln54His)
c.387G>C (p.Gln129His)
c.299G>C (p.Ser100Thr)
c.516G>C (p.Gln172His)
19g.29702784C>TCA405142553C19orf12c.354G>A (p.Gln118=)
n.745G>A
c.162G>A (p.Gln54=)
c.387G>A (p.Gln129=)
c.299G>A (p.Ser100Asn)
c.516G>A (p.Gln172=)
19g.29702785T>ACA405142557C19orf12c.353A>T (p.Gln118Leu)
n.744A>T
c.161A>T (p.Gln54Leu)
c.386A>T (p.Gln129Leu)
c.298A>T (p.Ser100Cys)
c.515A>T (p.Gln172Leu)
19g.29702785T>CCA405142559C19orf12c.353A>G (p.Gln118Arg)
n.744A>G
c.161A>G (p.Gln54Arg)
c.386A>G (p.Gln129Arg)
c.298A>G (p.Ser100Gly)
c.515A>G (p.Gln172Arg)
19g.29702785T>GCA405142562C19orf12c.353A>C (p.Gln118Pro)
n.744A>C
c.161A>C (p.Gln54Pro)
c.386A>C (p.Gln129Pro)
c.298A>C (p.Ser100Arg)
c.515A>C (p.Gln172Pro)
19g.29702785dupCA2584189484C19orf12c.353dup (p.Gln119AlafsTer22)
n.744dup
c.161dup (p.Gln55AlafsTer22)
c.386dup (p.Gln130AlafsTer22)
c.298dup (p.Ser100LysfsTer25)
c.515dup (p.Gln173AlafsTer22)
 gnomAD v4
19g.29702786G>ACA405142570C19orf12c.352C>T (p.Gln118Ter)
n.743C>T
c.160C>T (p.Gln54Ter)
c.385C>T (p.Gln129Ter)
c.297C>T (p.Cys99=)
c.514C>T (p.Gln172Ter)
19g.29702786G>CCA405142567C19orf12c.352C>G (p.Gln118Glu)
n.743C>G
c.160C>G (p.Gln54Glu)
c.385C>G (p.Gln129Glu)
c.297C>G (p.Cys99Trp)
c.514C>G (p.Gln172Glu)
19g.29702786G>TCA405142565C19orf12c.352C>A (p.Gln118Lys)
n.743C>A
c.160C>A (p.Gln54Lys)
c.385C>A (p.Gln129Lys)
c.297C>A (p.Cys99Ter)
c.514C>A (p.Gln172Lys)
19g.29702787C>ACA405142573C19orf12c.351G>T (p.Leu117=)
n.742G>T
c.159G>T (p.Leu53=)
c.384G>T (p.Leu128=)
c.296G>T (p.Cys99Phe)
c.513G>T (p.Leu171=)
19g.29702787C>GCA405142575C19orf12c.351G>C (p.Leu117=)
n.742G>C
c.159G>C (p.Leu53=)
c.384G>C (p.Leu128=)
c.296G>C (p.Cys99Ser)
c.513G>C (p.Leu171=)
19g.29702787C>TCA405142578C19orf12c.351G>A (p.Leu117=)
n.742G>A
c.159G>A (p.Leu53=)
c.384G>A (p.Leu128=)
c.296G>A (p.Cys99Tyr)
c.513G>A (p.Leu171=)
 gnomAD v4
19g.29702787_29702788delCA2499512250C19orf12c.350_351del (p.Leu117ProfsTer23)
n.741_742del
c.158_159del (p.Leu53ProfsTer23)
c.383_384del (p.Leu128ProfsTer23)
c.295_296del (p.Cys99GlnfsTer25)
c.512_513del (p.Leu171ProfsTer23)
19g.29702788A=CA2330913536C19orf12c.350T= (p.Leu117=)
n.741T=
c.158T= (p.Leu53=)
c.383T= (p.Leu128=)
c.295T= (p.Cys99=)
c.512T= (p.Leu171=)
19g.29702788A>CCA405142581C19orf12c.350T>G (p.Leu117Arg)
n.741T>G
c.158T>G (p.Leu53Arg)
c.383T>G (p.Leu128Arg)
c.295T>G (p.Cys99Gly)
c.512T>G (p.Leu171Arg)
19g.29702788A>GCA405142582C19orf12c.350T>C (p.Leu117Pro)
n.741T>C
c.158T>C (p.Leu53Pro)
c.383T>C (p.Leu128Pro)
c.295T>C (p.Cys99Arg)
c.512T>C (p.Leu171Pro)
 dbSNP
19g.29702788A>TCA405142585C19orf12c.350T>A (p.Leu117Gln)
n.741T>A
c.158T>A (p.Leu53Gln)
c.383T>A (p.Leu128Gln)
c.295T>A (p.Cys99Ser)
c.512T>A (p.Leu171Gln)
19g.29702789G>ACA9351874C19orf12c.349C>T
c.349C>T (p.Leu117=)
n.740C>T
c.157C>T (p.Leu53=)
c.382C>T (p.Leu128=)
c.294C>T (p.Pro98=)
c.511C>T (p.Leu171=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702789G>CCA405142592C19orf12c.349C>G
c.349C>G (p.Leu117Val)
n.740C>G
c.157C>G (p.Leu53Val)
c.382C>G (p.Leu128Val)
c.294C>G (p.Pro98=)
c.511C>G (p.Leu171Val)
19g.29702789G=CA2330913537C19orf12c.349C=
c.349C= (p.Leu117=)
n.740C=
c.157C= (p.Leu53=)
c.382C= (p.Leu128=)
c.294C= (p.Pro98=)
c.511C= (p.Leu171=)
19g.29702789G>TCA405142590C19orf12c.349C>A
c.349C>A (p.Leu117Met)
n.740C>A
c.157C>A (p.Leu53Met)
c.382C>A (p.Leu128Met)
c.294C>A (p.Pro98=)
c.511C>A (p.Leu171Met)
19g.29702790G>ACA405142594C19orf12c.348C>T (p.Ala116=)
n.739C>T
c.156C>T (p.Ala52=)
c.381C>T (p.Ala127=)
c.293C>T (p.Pro98Leu)
c.510C>T (p.Ala170=)
19g.29702790G>CCA405142596C19orf12c.348C>G (p.Ala116=)
n.739C>G
c.156C>G (p.Ala52=)
c.381C>G (p.Ala127=)
c.293C>G (p.Pro98Arg)
c.510C>G (p.Ala170=)
19g.29702790G>TCA405142598C19orf12c.348C>A (p.Ala116=)
n.739C>A
c.156C>A (p.Ala52=)
c.381C>A (p.Ala127=)
c.293C>A (p.Pro98His)
c.510C>A (p.Ala170=)
19g.29702790_29702800delCA2549114375C19orf12c.338_348del (p.Gly113=)
c.338_348del (p.Gly113AlafsTer24)
n.729_739del
c.146_156del (p.Gly49AlafsTer24)
c.371_381del (p.Gly124AlafsTer24)
c.291-8_293del
c.500_510del (p.Gly167AlafsTer24)
19g.29702791G>ACA405142601C19orf12c.347C>T (p.Ala116Val)
n.738C>T
c.155C>T (p.Ala52Val)
c.380C>T (p.Ala127Val)
c.292C>T (p.Pro98Ser)
c.509C>T (p.Ala170Val)
 dbSNP
19g.29702791G>CCA405142603C19orf12c.347C>G (p.Ala116Gly)
n.738C>G
c.155C>G (p.Ala52Gly)
c.380C>G (p.Ala127Gly)
c.292C>G (p.Pro98Ala)
c.509C>G (p.Ala170Gly)
 gnomAD v4
19g.29702791G=CA2330913538C19orf12c.347C= (p.Ala116=)
n.738C=
c.155C= (p.Ala52=)
c.380C= (p.Ala127=)
c.292C= (p.Pro98=)
c.509C= (p.Ala170=)
19g.29702791G>TCA405142606C19orf12c.347C>A (p.Ala116Asp)
n.738C>A
c.155C>A (p.Ala52Asp)
c.380C>A (p.Ala127Asp)
c.292C>A (p.Pro98Thr)
c.509C>A (p.Ala170Asp)
 ClinVar gnomAD v4
19g.29702792C>ACA405142608C19orf12c.346G>T (p.Ala116Ser)
n.737G>T
c.154G>T (p.Ala52Ser)
c.379G>T (p.Ala127Ser)
c.291G>T (p.Arg97Ser)
c.508G>T (p.Ala170Ser)
19g.29702792C=CA2330913539C19orf12c.346G= (p.Ala116=)
n.737G=
c.154G= (p.Ala52=)
c.379G= (p.Ala127=)
c.291G= (p.Arg97=)
c.508G= (p.Ala170=)
19g.29702792C>GCA405142611C19orf12c.346G>C (p.Ala116Pro)
n.737G>C
c.154G>C (p.Ala52Pro)
c.379G>C (p.Ala127Pro)
c.291G>C (p.Arg97Ser)
c.508G>C (p.Ala170Pro)
19g.29702792C>TCA306785208C19orf12c.346G>A (p.Ala116Thr)
n.737G>A
c.154G>A (p.Ala52Thr)
c.379G>A (p.Ala127Thr)
c.291G>A (p.Arg97=)
c.508G>A (p.Ala170Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.29702793C>ACA405142615C19orf12c.345G>T (p.Glu115Asp)
n.736G>T
c.153G>T (p.Glu51Asp)
c.378G>T (p.Glu126Asp)
c.291-1G>T (n.291-1G>T)
c.507G>T (p.Glu169Asp)
19g.29702793C=CA2330913540C19orf12c.345G= (p.Glu115=)
n.736G=
c.153G= (p.Glu51=)
c.378G= (p.Glu126=)
c.291-1G= (n.291-1G=)
c.507G= (p.Glu169=)
19g.29702793C>GCA405142617C19orf12c.345G>C (p.Glu115Asp)
n.736G>C
c.153G>C (p.Glu51Asp)
c.378G>C (p.Glu126Asp)
c.291-1G>C (n.291-1G>C)
c.507G>C (p.Glu169Asp)
19g.29702793C>TCA9351875C19orf12c.345G>A (p.Glu115=)
n.736G>A
c.153G>A (p.Glu51=)
c.378G>A (p.Glu126=)
c.291-1G>A (n.291-1G>A)
c.507G>A (p.Glu169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702794T>ACA405142622C19orf12c.344A>T (p.Glu115Val)
n.735A>T
c.152A>T (p.Glu51Val)
c.377A>T (p.Glu126Val)
c.291-2A>T (n.291-2A>T)
c.506A>T (p.Glu169Val)
19g.29702794T>CCA405142625C19orf12c.344A>G (p.Glu115Gly)
n.735A>G
c.152A>G (p.Glu51Gly)
c.377A>G (p.Glu126Gly)
c.291-2A>G (n.291-2A>G)
c.506A>G (p.Glu169Gly)
19g.29702794T>GCA405142623C19orf12c.344A>C (p.Glu115Ala)
n.735A>C
c.152A>C (p.Glu51Ala)
c.377A>C (p.Glu126Ala)
c.291-2A>C (n.291-2A>C)
c.506A>C (p.Glu169Ala)
19g.29702795C>ACA405142628C19orf12c.343G>T (p.Glu115Ter)
n.734G>T
c.151G>T (p.Glu51Ter)
c.376G>T (p.Glu126Ter)
c.291-3G>T (n.291-3G>T)
c.505G>T (p.Glu169Ter)
19g.29702795C=CA2330913541C19orf12c.343G= (p.Glu115=)
n.734G=
c.151G= (p.Glu51=)
c.376G= (p.Glu126=)
c.291-3G= (n.291-3G=)
c.505G= (p.Glu169=)
19g.29702795C>GCA405142630C19orf12c.343G>C (p.Glu115Gln)
n.734G>C
c.151G>C (p.Glu51Gln)
c.376G>C (p.Glu126Gln)
c.291-3G>C (n.291-3G>C)
c.505G>C (p.Glu169Gln)
19g.29702795C>TCA9351876C19orf12c.343G>A (p.Glu115Lys)
n.734G>A
c.151G>A (p.Glu51Lys)
c.376G>A (p.Glu126Lys)
c.291-3G>A (n.291-3G>A)
c.505G>A (p.Glu169Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702796G>ACA9351877C19orf12c.342C>T (p.Ser114=)
n.733C>T
c.150C>T (p.Ser50=)
c.375C>T (p.Ser125=)
c.291-4C>T (n.291-4C>T)
c.504C>T (p.Ser168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702796G>CCA405142636C19orf12c.342C>G (p.Ser114Arg)
n.733C>G
c.150C>G (p.Ser50Arg)
c.375C>G (p.Ser125Arg)
c.291-4C>G (n.291-4C>G)
c.504C>G (p.Ser168Arg)
19g.29702796G=CA2330913542C19orf12c.342C= (p.Ser114=)
n.733C=
c.150C= (p.Ser50=)
c.375C= (p.Ser125=)
c.291-4C= (n.291-4C=)
c.504C= (p.Ser168=)
19g.29702796G>TCA405142637C19orf12c.342C>A (p.Ser114Arg)
n.733C>A
c.150C>A (p.Ser50Arg)
c.375C>A (p.Ser125Arg)
c.291-4C>A (n.291-4C>A)
c.504C>A (p.Ser168Arg)
19g.29702797C>ACA405142640C19orf12c.341G>T (p.Ser114Ile)
n.732G>T
c.149G>T (p.Ser50Ile)
c.374G>T (p.Ser125Ile)
c.291-5G>T (n.291-5G>T)
c.503G>T (p.Ser168Ile)
19g.29702797C>GCA405142642C19orf12c.341G>C (p.Ser114Thr)
n.732G>C
c.149G>C (p.Ser50Thr)
c.374G>C (p.Ser125Thr)
c.291-5G>C (n.291-5G>C)
c.503G>C (p.Ser168Thr)
19g.29702797C>TCA405142644C19orf12c.341G>A (p.Ser114Asn)
n.732G>A
c.149G>A (p.Ser50Asn)
c.374G>A (p.Ser125Asn)
c.291-5G>A (n.291-5G>A)
c.503G>A (p.Ser168Asn)
19g.29702798T>ACA405142647C19orf12c.340A>T (p.Ser114Cys)
n.731A>T
c.148A>T (p.Ser50Cys)
c.373A>T (p.Ser125Cys)
c.291-6A>T (n.291-6A>T)
c.502A>T (p.Ser168Cys)
19g.29702798T>CCA405142649C19orf12c.340A>G (p.Ser114Gly)
n.731A>G
c.148A>G (p.Ser50Gly)
c.373A>G (p.Ser125Gly)
c.291-6A>G (n.291-6A>G)
c.502A>G (p.Ser168Gly)
19g.29702798T>GCA405142652C19orf12c.340A>C (p.Ser114Arg)
n.731A>C
c.148A>C (p.Ser50Arg)
c.373A>C (p.Ser125Arg)
c.291-6A>C (n.291-6A>C)
c.502A>C (p.Ser168Arg)
19g.29702799G>ACA506986834C19orf12c.339C>T (p.Gly113=)
n.730C>T
c.147C>T (p.Gly49=)
c.372C>T (p.Gly124=)
c.291-7C>T (n.291-7C>T)
c.501C>T (p.Gly167=)
19g.29702799G>CCA506986831C19orf12c.339C>G (p.Gly113=)
n.730C>G
c.147C>G (p.Gly49=)
c.372C>G (p.Gly124=)
c.291-7C>G (n.291-7C>G)
c.501C>G (p.Gly167=)
19g.29702799G>TCA506986829C19orf12c.339C>A (p.Gly113=)
n.730C>A
c.147C>A (p.Gly49=)
c.372C>A (p.Gly124=)
c.291-7C>A (n.291-7C>A)
c.501C>A (p.Gly167=)
19g.29702800C>ACA405142659C19orf12c.338G>T (p.Gly113Val)
n.729G>T
c.146G>T (p.Gly49Val)
c.371G>T (p.Gly124Val)
c.291-8G>T (n.291-8G>T)
c.500G>T (p.Gly167Val)
19g.29702800C=CA2330913543C19orf12c.338G= (p.Gly113=)
n.729G=
c.146G= (p.Gly49=)
c.371G= (p.Gly124=)
c.291-8G= (n.291-8G=)
c.500G= (p.Gly167=)
19g.29702800C>GCA405142657C19orf12c.338G>C (p.Gly113Ala)
n.729G>C
c.146G>C (p.Gly49Ala)
c.371G>C (p.Gly124Ala)
c.291-8G>C (n.291-8G>C)
c.500G>C (p.Gly167Ala)
19g.29702800C>TCA306785242C19orf12c.338G>A (p.Gly113Asp)
n.729G>A
c.146G>A (p.Gly49Asp)
c.371G>A (p.Gly124Asp)
c.291-8G>A (n.291-8G>A)
c.500G>A (p.Gly167Asp)
 dbSNP
19g.29702801C>ACA405142660C19orf12c.337G>T (p.Gly113Cys)
n.728G>T
c.145G>T (p.Gly49Cys)
c.370G>T (p.Gly124Cys)
c.291-9G>T (n.291-9G>T)
c.499G>T (p.Gly167Cys)
19g.29702801C=CA2330913544C19orf12c.337G= (p.Gly113=)
n.728G=
c.145G= (p.Gly49=)
c.370G= (p.Gly124=)
c.291-9G= (n.291-9G=)
c.499G= (p.Gly167=)
19g.29702801C>GCA405142663C19orf12c.337G>C (p.Gly113Arg)
n.728G>C
c.145G>C (p.Gly49Arg)
c.370G>C (p.Gly124Arg)
c.291-9G>C (n.291-9G>C)
c.499G>C (p.Gly167Arg)
19g.29702801C>TCA405142665C19orf12c.337G>A (p.Gly113Ser)
n.728G>A
c.145G>A (p.Gly49Ser)
c.370G>A (p.Gly124Ser)
c.291-9G>A (n.291-9G>A)
c.499G>A (p.Gly167Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.29702802C>ACA405142667C19orf12c.336G>T (p.Met112Ile)
n.727G>T
c.144G>T (p.Met48Ile)
c.369G>T (p.Met123Ile)
c.291-10G>T (n.291-10G>T)
c.498G>T (p.Met166Ile)
19g.29702802C=CA2330913545C19orf12c.336G= (p.Met112=)
n.727G=
c.144G= (p.Met48=)
c.369G= (p.Met123=)
c.291-10G= (n.291-10G=)
c.498G= (p.Met166=)
19g.29702802C>GCA405142668C19orf12c.336G>C (p.Met112Ile)
n.727G>C
c.144G>C (p.Met48Ile)
c.369G>C (p.Met123Ile)
c.291-10G>C (n.291-10G>C)
c.498G>C (p.Met166Ile)
19g.29702802C>TCA405142671C19orf12c.336G>A (p.Met112Ile)
n.727G>A
c.144G>A (p.Met48Ile)
c.369G>A (p.Met123Ile)
c.291-10G>A (n.291-10G>A)
c.498G>A (p.Met166Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.29702803A=CA2330913546C19orf12c.335T= (p.Met112=)
n.726T=
c.143T= (p.Met48=)
c.368T= (p.Met123=)
c.291-11T= (n.291-11T=)
c.497T= (p.Met166=)
19g.29702803A>CCA405142674C19orf12c.335T>G (p.Met112Arg)
n.726T>G
c.143T>G (p.Met48Arg)
c.368T>G (p.Met123Arg)
c.291-11T>G (n.291-11T>G)
c.497T>G (p.Met166Arg)
19g.29702803A>GCA405142676C19orf12c.335T>C (p.Met112Thr)
n.726T>C
c.143T>C (p.Met48Thr)
c.368T>C (p.Met123Thr)
c.291-11T>C (n.291-11T>C)
c.497T>C (p.Met166Thr)
19g.29702803A>TCA405142679C19orf12c.335T>A (p.Met112Lys)
n.726T>A
c.143T>A (p.Met48Lys)
c.368T>A (p.Met123Lys)
c.291-11T>A (n.291-11T>A)
c.497T>A (p.Met166Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.29702804T>ACA405142682C19orf12c.334A>T (p.Met112Leu)
n.725A>T
c.142A>T (p.Met48Leu)
c.367A>T (p.Met123Leu)
c.291-12A>T (n.291-12A>T)
c.496A>T (p.Met166Leu)
19g.29702804T>CCA405142684C19orf12c.334A>G (p.Met112Val)
n.725A>G
c.142A>G (p.Met48Val)
c.367A>G (p.Met123Val)
c.291-12A>G (n.291-12A>G)
c.496A>G (p.Met166Val)
 ClinVar dbSNP
19g.29702804T>GCA405142686C19orf12c.334A>C (p.Met112Leu)
n.725A>C
c.142A>C (p.Met48Leu)
c.367A>C (p.Met123Leu)
c.291-12A>C (n.291-12A>C)
c.496A>C (p.Met166Leu)
 dbSNP
19g.29702804T=CA2330913547C19orf12c.334A= (p.Met112=)
n.725A=
c.142A= (p.Met48=)
c.367A= (p.Met123=)
c.291-12A= (n.291-12A=)
c.496A= (p.Met166=)
19g.29702805G>ACA506986867C19orf12c.333C>T (p.Val111=)
n.724C>T
c.141C>T (p.Val47=)
c.366C>T (p.Val122=)
c.291-13C>T (n.291-13C>T)
c.495C>T (p.Val165=)
19g.29702805G>CCA506986870C19orf12c.333C>G (p.Val111=)
n.724C>G
c.141C>G (p.Val47=)
c.366C>G (p.Val122=)
c.291-13C>G (n.291-13C>G)
c.495C>G (p.Val165=)
19g.29702805G>TCA506986869C19orf12c.333C>A (p.Val111=)
n.724C>A
c.141C>A (p.Val47=)
c.366C>A (p.Val122=)
c.291-13C>A (n.291-13C>A)
c.495C>A (p.Val165=)
 gnomAD v4
19g.29702806A=CA2330913548C19orf12c.332T= (p.Val111=)
n.723T=
c.140T= (p.Val47=)
c.365T= (p.Val122=)
c.291-14T= (n.291-14T=)
c.494T= (p.Val165=)
19g.29702806A>CCA405142693C19orf12c.332T>G (p.Val111Gly)
n.723T>G
c.140T>G (p.Val47Gly)
c.365T>G (p.Val122Gly)
c.291-14T>G (n.291-14T>G)
c.494T>G (p.Val165Gly)
19g.29702806A>GCA405142691C19orf12c.332T>C (p.Val111Ala)
n.723T>C
c.140T>C (p.Val47Ala)
c.365T>C (p.Val122Ala)
c.291-14T>C (n.291-14T>C)
c.494T>C (p.Val165Ala)
 ClinVar dbSNP
19g.29702806A>TCA405142690C19orf12c.332T>A (p.Val111Asp)
n.723T>A
c.140T>A (p.Val47Asp)
c.365T>A (p.Val122Asp)
c.291-14T>A (n.291-14T>A)
c.494T>A (p.Val165Asp)
 dbSNP
19g.29702807C>ACA405142696C19orf12c.331G>T (p.Val111Phe)
n.722G>T
c.139G>T (p.Val47Phe)
c.364G>T (p.Val122Phe)
c.291-15G>T (n.291-15G>T)
c.493G>T (p.Val165Phe)
19g.29702807C=CA2330913549C19orf12c.331G= (p.Val111=)
n.722G=
c.139G= (p.Val47=)
c.364G= (p.Val122=)
c.291-15G= (n.291-15G=)
c.493G= (p.Val165=)
19g.29702807C>GCA405142699C19orf12c.331G>C (p.Val111Leu)
n.722G>C
c.139G>C (p.Val47Leu)
c.364G>C (p.Val122Leu)
c.291-15G>C (n.291-15G>C)
c.493G>C (p.Val165Leu)
19g.29702807C>TCA9351878C19orf12c.331G>A (p.Val111Ile)
n.722G>A
c.139G>A (p.Val47Ile)
c.364G>A (p.Val122Ile)
c.291-15G>A (n.291-15G>A)
c.493G>A (p.Val165Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702808C>ACA506986885C19orf12c.330G>T (p.Leu110=)
n.721G>T
c.138G>T (p.Leu46=)
c.363G>T (p.Leu121=)
c.291-16G>T (n.291-16G>T)
c.492G>T (p.Leu164=)
19g.29702808C=CA2330913550C19orf12c.330G= (p.Leu110=)
n.721G=
c.138G= (p.Leu46=)
c.363G= (p.Leu121=)
c.291-16G= (n.291-16G=)
c.492G= (p.Leu164=)
19g.29702808C>GCA506986887C19orf12c.330G>C (p.Leu110=)
n.721G>C
c.138G>C (p.Leu46=)
c.363G>C (p.Leu121=)
c.291-16G>C (n.291-16G>C)
c.492G>C (p.Leu164=)
 dbSNP gnomAD v4
19g.29702808C>TCA9351879C19orf12c.330G>A (p.Leu110=)
n.721G>A
c.138G>A (p.Leu46=)
c.363G>A (p.Leu121=)
c.291-16G>A (n.291-16G>A)
c.492G>A (p.Leu164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702809A=CA2330913551C19orf12c.329T= (p.Leu110=)
n.720T=
c.137T= (p.Leu46=)
c.362T= (p.Leu121=)
c.291-17T= (n.291-17T=)
c.491T= (p.Leu164=)
19g.29702809A>CCA405142705C19orf12c.329T>G (p.Leu110Arg)
n.720T>G
c.137T>G (p.Leu46Arg)
c.362T>G (p.Leu121Arg)
c.291-17T>G (n.291-17T>G)
c.491T>G (p.Leu164Arg)
19g.29702809A>GCA9351880C19orf12c.329T>C (p.Leu110Pro)
n.720T>C
c.137T>C (p.Leu46Pro)
c.362T>C (p.Leu121Pro)
c.291-17T>C (n.291-17T>C)
c.491T>C (p.Leu164Pro)
 dbSNP ExAC
19g.29702809A>TCA405142707C19orf12c.329T>A (p.Leu110Gln)
n.720T>A
c.137T>A (p.Leu46Gln)
c.362T>A (p.Leu121Gln)
c.291-17T>A (n.291-17T>A)
c.491T>A (p.Leu164Gln)
19g.29702810G>ACA506986900C19orf12c.328C>T (p.Leu110=)
n.719C>T
c.136C>T (p.Leu46=)
c.361C>T (p.Leu121=)
c.291-18C>T (n.291-18C>T)
c.490C>T (p.Leu164=)
 COSMIC COSMIC
19g.29702810G>CCA405142708C19orf12c.328C>G (p.Leu110Val)
n.719C>G
c.136C>G (p.Leu46Val)
c.361C>G (p.Leu121Val)
c.291-18C>G (n.291-18C>G)
c.490C>G (p.Leu164Val)
19g.29702810G>TCA405142710C19orf12c.328C>A (p.Leu110Met)
n.719C>A
c.136C>A (p.Leu46Met)
c.361C>A (p.Leu121Met)
c.291-18C>A (n.291-18C>A)
c.490C>A (p.Leu164Met)
19g.29702811C>ACA506986904C19orf12c.327G>T (p.Ala109=)
n.718G>T
c.135G>T (p.Ala45=)
c.360G>T (p.Ala120=)
c.291-19G>T (n.291-19G>T)
c.489G>T (p.Ala163=)
 dbSNP gnomAD v2 gnomAD v4
19g.29702811C=CA2330913552C19orf12c.327G= (p.Ala109=)
n.718G=
c.135G= (p.Ala45=)
c.360G= (p.Ala120=)
c.291-19G= (n.291-19G=)
c.489G= (p.Ala163=)
19g.29702811C>GCA506986907C19orf12c.327G>C (p.Ala109=)
n.718G>C
c.135G>C (p.Ala45=)
c.360G>C (p.Ala120=)
c.291-19G>C (n.291-19G>C)
c.489G>C (p.Ala163=)
19g.29702811C>TCA9351881C19orf12c.327G>A (p.Ala109=)
n.718G>A
c.135G>A (p.Ala45=)
c.360G>A (p.Ala120=)
c.291-19G>A (n.291-19G>A)
c.489G>A (p.Ala163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.29702812G>ACA9351882C19orf12c.326C>T (p.Ala109Val)
n.717C>T
c.134C>T (p.Ala45Val)
c.359C>T (p.Ala120Val)
c.291-20C>T (n.291-20C>T)
c.488C>T (p.Ala163Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702812G>CCA405142714C19orf12c.326C>G (p.Ala109Gly)
n.717C>G
c.134C>G (p.Ala45Gly)
c.359C>G (p.Ala120Gly)
c.291-20C>G (n.291-20C>G)
c.488C>G (p.Ala163Gly)
19g.29702812G=CA2330913553C19orf12c.326C= (p.Ala109=)
n.717C=
c.134C= (p.Ala45=)
c.359C= (p.Ala120=)
c.291-20C= (n.291-20C=)
c.488C= (p.Ala163=)
19g.29702812G>TCA405142716C19orf12c.326C>A (p.Ala109Glu)
n.717C>A
c.134C>A (p.Ala45Glu)
c.359C>A (p.Ala120Glu)
c.291-20C>A (n.291-20C>A)
c.488C>A (p.Ala163Glu)
19g.29702813C>ACA405142719C19orf12c.325G>T (p.Ala109Ser)
n.716G>T
c.133G>T (p.Ala45Ser)
c.358G>T (p.Ala120Ser)
c.291-21G>T (n.291-21G>T)
c.487G>T (p.Ala163Ser)
19g.29702813C=CA2330913554C19orf12c.325G= (p.Ala109=)
n.716G=
c.133G= (p.Ala45=)
c.358G= (p.Ala120=)
c.291-21G= (n.291-21G=)
c.487G= (p.Ala163=)
19g.29702813C>GCA405142721C19orf12c.325G>C (p.Ala109Pro)
n.716G>C
c.133G>C (p.Ala45Pro)
c.358G>C (p.Ala120Pro)
c.291-21G>C (n.291-21G>C)
c.487G>C (p.Ala163Pro)
19g.29702813C>TCA405142723C19orf12c.325G>A (p.Ala109Thr)
n.716G>A
c.133G>A (p.Ala45Thr)
c.358G>A (p.Ala120Thr)
c.291-21G>A (n.291-21G>A)
c.487G>A (p.Ala163Thr)
 dbSNP
19g.29702813dupCA2695228505C19orf12c.325dup (p.Ala109GlyfsTer?)
n.716dup
c.133dup (p.Ala45GlyfsTer?)
c.358dup (p.Ala120GlyfsTer?)
c.291-21dup (n.291-21dup)
c.487dup (p.Ala163GlyfsTer?)
19g.29702814G>ACA152059C19orf12c.324C>T (p.Thr108=)
n.715C>T
c.132C>T (p.Thr44=)
c.357C>T (p.Thr119=)
c.291-22C>T (n.291-22C>T)
c.486C>T (p.Thr162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702814G>CCA506986925C19orf12c.324C>G (p.Thr108=)
n.715C>G
c.132C>G (p.Thr44=)
c.357C>G (p.Thr119=)
c.291-22C>G (n.291-22C>G)
c.486C>G (p.Thr162=)
19g.29702814G=CA2330913555C19orf12c.324C= (p.Thr108=)
n.715C=
c.132C= (p.Thr44=)
c.357C= (p.Thr119=)
c.291-22C= (n.291-22C=)
c.486C= (p.Thr162=)
19g.29702814G>TCA506986927C19orf12c.324C>A (p.Thr108=)
n.715C>A
c.132C>A (p.Thr44=)
c.357C>A (p.Thr119=)
c.291-22C>A (n.291-22C>A)
c.486C>A (p.Thr162=)
 dbSNP gnomAD v4
19g.29702815dupCA2580060372C19orf12c.324dup (p.Ala109ArgfsTer?)
n.715dup
c.132dup (p.Ala45ArgfsTer?)
c.357dup (p.Ala120ArgfsTer?)
c.291-22dup (n.291-22dup)
c.486dup (p.Ala163ArgfsTer?)
19g.29702815G>ACA405142728C19orf12c.323C>T (p.Thr108Ile)
n.714C>T
c.131C>T (p.Thr44Ile)
c.356C>T (p.Thr119Ile)
c.291-23C>T (n.291-23C>T)
c.485C>T (p.Thr162Ile)
 gnomAD v4
19g.29702815G>CCA405142731C19orf12c.323C>G (p.Thr108Ser)
n.714C>G
c.131C>G (p.Thr44Ser)
c.356C>G (p.Thr119Ser)
c.291-23C>G (n.291-23C>G)
c.485C>G (p.Thr162Ser)
19g.29702815G>TCA405142733C19orf12c.323C>A (p.Thr108Asn)
n.714C>A
c.131C>A (p.Thr44Asn)
c.356C>A (p.Thr119Asn)
c.291-23C>A (n.291-23C>A)
c.485C>A (p.Thr162Asn)
19g.29702816T>ACA405142736C19orf12c.322A>T (p.Thr108Ser)
n.713A>T
c.130A>T (p.Thr44Ser)
c.355A>T (p.Thr119Ser)
c.291-24A>T (n.291-24A>T)
c.484A>T (p.Thr162Ser)
19g.29702816T>CCA405142738C19orf12c.322A>G (p.Thr108Ala)
n.713A>G
c.130A>G (p.Thr44Ala)
c.355A>G (p.Thr119Ala)
c.291-24A>G (n.291-24A>G)
c.484A>G (p.Thr162Ala)
19g.29702816T>GCA9351883C19orf12c.322A>C (p.Thr108Pro)
n.713A>C
c.130A>C (p.Thr44Pro)
c.355A>C (p.Thr119Pro)
c.291-24A>C (n.291-24A>C)
c.484A>C (p.Thr162Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702816T=CA2330913556C19orf12c.322A= (p.Thr108=)
n.713A=
c.130A= (p.Thr44=)
c.355A= (p.Thr119=)
c.291-24A= (n.291-24A=)
c.484A= (p.Thr162=)
19g.29702817C>ACA506986941C19orf12c.321G>T (p.Leu107=)
n.712G>T
c.129G>T (p.Leu43=)
c.354G>T (p.Leu118=)
c.291-25G>T (n.291-25G>T)
c.483G>T (p.Leu161=)
19g.29702817C>GCA506986943C19orf12c.321G>C (p.Leu107=)
n.712G>C
c.129G>C (p.Leu43=)
c.354G>C (p.Leu118=)
c.291-25G>C (n.291-25G>C)
c.483G>C (p.Leu161=)
19g.29702817C>TCA506986946C19orf12c.321G>A (p.Leu107=)
n.712G>A
c.129G>A (p.Leu43=)
c.354G>A (p.Leu118=)
c.291-25G>A (n.291-25G>A)
c.483G>A (p.Leu161=)
19g.29702818A=CA2330913557C19orf12c.320T= (p.Leu107=)
n.711T=
c.128T= (p.Leu43=)
c.353T= (p.Leu118=)
c.291-26T= (n.291-26T=)
c.482T= (p.Leu161=)
19g.29702818A>CCA9351884C19orf12c.320T>G (p.Leu107Arg)
n.711T>G
c.128T>G (p.Leu43Arg)
c.353T>G (p.Leu118Arg)
c.291-26T>G (n.291-26T>G)
c.482T>G (p.Leu161Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702818A>GCA405142745C19orf12c.320T>C (p.Leu107Pro)
n.711T>C
c.128T>C (p.Leu43Pro)
c.353T>C (p.Leu118Pro)
c.291-26T>C (n.291-26T>C)
c.482T>C (p.Leu161Pro)
 gnomAD v4
19g.29702818A>TCA405142743C19orf12c.320T>A (p.Leu107Gln)
n.711T>A
c.128T>A (p.Leu43Gln)
c.353T>A (p.Leu118Gln)
c.291-26T>A (n.291-26T>A)
c.482T>A (p.Leu161Gln)
19g.29702819G>ACA506986973C19orf12c.319C>T (p.Leu107=)
n.710C>T
c.127C>T (p.Leu43=)
c.352C>T (p.Leu118=)
c.319C>T
c.291-27C>T (n.291-27C>T)
c.481C>T (p.Leu161=)
19g.29702819G>CCA405142749C19orf12c.319C>G (p.Leu107Val)
n.710C>G
c.127C>G (p.Leu43Val)
c.352C>G (p.Leu118Val)
c.319C>G
c.291-27C>G (n.291-27C>G)
c.481C>G (p.Leu161Val)
19g.29702819G=CA2330913558C19orf12c.319C= (p.Leu107=)
n.710C=
c.127C= (p.Leu43=)
c.352C= (p.Leu118=)
c.319C=
c.291-27C= (n.291-27C=)
c.481C= (p.Leu161=)
19g.29702819G>TCA405142751C19orf12c.319C>A (p.Leu107Met)
n.710C>A
c.127C>A (p.Leu43Met)
c.352C>A (p.Leu118Met)
c.319C>A
c.291-27C>A (n.291-27C>A)
c.481C>A (p.Leu161Met)
 dbSNP gnomAD v2 gnomAD v4
19g.29702820C>ACA405142754C19orf12c.318G>T (p.Gln106His)
n.709G>T
c.126G>T (p.Gln42His)
c.351G>T (p.Gln117His)
c.291-28G>T (n.291-28G>T)
c.480G>T (p.Gln160His)
19g.29702820C>GCA405142756C19orf12c.318G>C (p.Gln106His)
n.709G>C
c.126G>C (p.Gln42His)
c.351G>C (p.Gln117His)
c.291-28G>C (n.291-28G>C)
c.480G>C (p.Gln160His)
19g.29702820C>TCA506986983C19orf12c.318G>A (p.Gln106=)
n.709G>A
c.126G>A (p.Gln42=)
c.351G>A (p.Gln117=)
c.291-28G>A (n.291-28G>A)
c.480G>A (p.Gln160=)
 gnomAD v4
19g.29702821T>ACA405142759C19orf12c.317A>T (p.Gln106Leu)
n.708A>T
c.125A>T (p.Gln42Leu)
c.350A>T (p.Gln117Leu)
c.290+27A>T (n.290+27A>T)
c.479A>T (p.Gln160Leu)
19g.29702821T>CCA405142760C19orf12c.317A>G (p.Gln106Arg)
n.708A>G
c.125A>G (p.Gln42Arg)
c.350A>G (p.Gln117Arg)
c.290+27A>G (n.290+27A>G)
c.479A>G (p.Gln160Arg)
 dbSNP
19g.29702821T>GCA405142763C19orf12c.317A>C (p.Gln106Pro)
n.708A>C
c.125A>C (p.Gln42Pro)
c.350A>C (p.Gln117Pro)
c.290+27A>C (n.290+27A>C)
c.479A>C (p.Gln160Pro)
19g.29702821T=CA2330913559C19orf12c.317A= (p.Gln106=)
n.708A=
c.125A= (p.Gln42=)
c.350A= (p.Gln117=)
c.290+27A= (n.290+27A=)
c.479A= (p.Gln160=)
19g.29702822G>ACA405142766C19orf12c.316C>T (p.Gln106Ter)
n.707C>T
c.124C>T (p.Gln42Ter)
c.349C>T (p.Gln117Ter)
c.290+26C>T (n.290+26C>T)
c.478C>T (p.Gln160Ter)
19g.29702822G>CCA405142768C19orf12c.316C>G (p.Gln106Glu)
n.707C>G
c.124C>G (p.Gln42Glu)
c.349C>G (p.Gln117Glu)
c.290+26C>G (n.290+26C>G)
c.478C>G (p.Gln160Glu)
19g.29702822G>TCA405142770C19orf12c.316C>A (p.Gln106Lys)
n.707C>A
c.124C>A (p.Gln42Lys)
c.349C>A (p.Gln117Lys)
c.290+26C>A (n.290+26C>A)
c.478C>A (p.Gln160Lys)
19g.29702823C>ACA506986995C19orf12c.315G>T (p.Val105=)
n.706G>T
c.123G>T (p.Val41=)
c.348G>T (p.Val116=)
c.290+25G>T (n.290+25G>T)
c.477G>T (p.Val159=)
19g.29702823C>GCA506986997C19orf12c.315G>C (p.Val105=)
n.706G>C
c.123G>C (p.Val41=)
c.348G>C (p.Val116=)
c.290+25G>C (n.290+25G>C)
c.477G>C (p.Val159=)
19g.29702823C>TCA506986999C19orf12c.315G>A (p.Val105=)
n.706G>A
c.123G>A (p.Val41=)
c.348G>A (p.Val116=)
c.290+25G>A (n.290+25G>A)
c.477G>A (p.Val159=)
19g.29702824A>CCA405142773C19orf12c.314T>G (p.Val105Gly)
n.705T>G
c.122T>G (p.Val41Gly)
c.347T>G (p.Val116Gly)
c.290+24T>G (n.290+24T>G)
c.476T>G (p.Val159Gly)
19g.29702824A>GCA405142774C19orf12c.314T>C (p.Val105Ala)
n.705T>C
c.122T>C (p.Val41Ala)
c.347T>C (p.Val116Ala)
c.290+24T>C (n.290+24T>C)
c.476T>C (p.Val159Ala)
19g.29702824A>TCA405142776C19orf12c.314T>A (p.Val105Glu)
n.705T>A
c.122T>A (p.Val41Glu)
c.347T>A (p.Val116Glu)
c.290+24T>A (n.290+24T>A)
c.476T>A (p.Val159Glu)
19g.29702825C>ACA9351886C19orf12c.313G>T (p.Val105Leu)
n.704G>T
c.121G>T (p.Val41Leu)
c.346G>T (p.Val116Leu)
c.290+23G>T (n.290+23G>T)
c.475G>T (p.Val159Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702825C=CA2330913560C19orf12c.313G= (p.Val105=)
n.704G=
c.121G= (p.Val41=)
c.346G= (p.Val116=)
c.290+23G= (n.290+23G=)
c.475G= (p.Val159=)
19g.29702825C>GCA405142780C19orf12c.313G>C (p.Val105Leu)
n.704G>C
c.121G>C (p.Val41Leu)
c.346G>C (p.Val116Leu)
c.290+23G>C (n.290+23G>C)
c.475G>C (p.Val159Leu)
19g.29702825C>TCA9351885C19orf12c.313G>A (p.Val105Met)
n.704G>A
c.121G>A (p.Val41Met)
c.346G>A (p.Val116Met)
c.290+23G>A (n.290+23G>A)
c.475G>A (p.Val159Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702826G>ACA9351887C19orf12c.312C>T (p.Ala104=)
n.703C>T
c.120C>T (p.Ala40=)
c.345C>T (p.Ala115=)
c.290+22C>T (n.290+22C>T)
c.474C>T (p.Ala158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702826G>CCA506987018C19orf12c.312C>G (p.Ala104=)
n.703C>G
c.120C>G (p.Ala40=)
c.345C>G (p.Ala115=)
c.290+22C>G (n.290+22C>G)
c.474C>G (p.Ala158=)
19g.29702826G=CA2330913561C19orf12c.312C= (p.Ala104=)
n.703C=
c.120C= (p.Ala40=)
c.345C= (p.Ala115=)
c.290+22C= (n.290+22C=)
c.474C= (p.Ala158=)
19g.29702826G>TCA506987015C19orf12c.312C>A (p.Ala104=)
n.703C>A
c.120C>A (p.Ala40=)
c.345C>A (p.Ala115=)
c.290+22C>A (n.290+22C>A)
c.474C>A (p.Ala158=)
19g.29702827G>ACA405142785C19orf12c.311C>T (p.Ala104Val)
n.702C>T
c.119C>T (p.Ala40Val)
c.344C>T (p.Ala115Val)
c.290+21C>T (n.290+21C>T)
c.473C>T (p.Ala158Val)
19g.29702827G>CCA405142786C19orf12c.311C>G (p.Ala104Gly)
n.702C>G
c.119C>G (p.Ala40Gly)
c.344C>G (p.Ala115Gly)
c.290+21C>G (n.290+21C>G)
c.473C>G (p.Ala158Gly)
19g.29702827G>TCA405142788C19orf12c.311C>A (p.Ala104Asp)
n.702C>A
c.119C>A (p.Ala40Asp)
c.344C>A (p.Ala115Asp)
c.290+21C>A (n.290+21C>A)
c.473C>A (p.Ala158Asp)
19g.29702828C>ACA405142791C19orf12c.310G>T (p.Ala104Ser)
n.701G>T
c.118G>T (p.Ala40Ser)
c.343G>T (p.Ala115Ser)
c.290+20G>T (n.290+20G>T)
c.472G>T (p.Ala158Ser)
19g.29702828C=CA2330913562C19orf12c.310G= (p.Ala104=)
n.701G=
c.118G= (p.Ala40=)
c.343G= (p.Ala115=)
c.290+20G= (n.290+20G=)
c.472G= (p.Ala158=)
19g.29702828C>GCA405142793C19orf12c.310G>C (p.Ala104Pro)
n.701G>C
c.118G>C (p.Ala40Pro)
c.343G>C (p.Ala115Pro)
c.290+20G>C (n.290+20G>C)
c.472G>C (p.Ala158Pro)
19g.29702828C>TCA405142795C19orf12c.310G>A (p.Ala104Thr)
n.701G>A
c.118G>A (p.Ala40Thr)
c.343G>A (p.Ala115Thr)
c.290+20G>A (n.290+20G>A)
c.472G>A (p.Ala158Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.29702829G>ACA9351888C19orf12c.309C>T (p.Asp103=)
n.700C>T
c.117C>T (p.Asp39=)
c.342C>T (p.Asp114=)
c.290+19C>T (n.290+19C>T)
c.471C>T (p.Asp157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702829G>CCA405142799C19orf12c.309C>G (p.Asp103Glu)
n.700C>G
c.117C>G (p.Asp39Glu)
c.342C>G (p.Asp114Glu)
c.290+19C>G (n.290+19C>G)
c.471C>G (p.Asp157Glu)
19g.29702829G=CA2330913563C19orf12c.309C= (p.Asp103=)
n.700C=
c.117C= (p.Asp39=)
c.342C= (p.Asp114=)
c.290+19C= (n.290+19C=)
c.471C= (p.Asp157=)
19g.29702829G>TCA405142801C19orf12c.309C>A (p.Asp103Glu)
n.700C>A
c.117C>A (p.Asp39Glu)
c.342C>A (p.Asp114Glu)
c.290+19C>A (n.290+19C>A)
c.471C>A (p.Asp157Glu)
19g.29702830T>ACA405142805C19orf12c.308A>T (p.Asp103Val)
n.699A>T
c.116A>T (p.Asp39Val)
c.341A>T (p.Asp114Val)
c.290+18A>T (n.290+18A>T)
c.470A>T (p.Asp157Val)
19g.29702830T>CCA405142807C19orf12c.308A>G (p.Asp103Gly)
n.699A>G
c.116A>G (p.Asp39Gly)
c.341A>G (p.Asp114Gly)
c.290+18A>G (n.290+18A>G)
c.470A>G (p.Asp157Gly)
19g.29702830T>GCA405142809C19orf12c.308A>C (p.Asp103Ala)
n.699A>C
c.116A>C (p.Asp39Ala)
c.341A>C (p.Asp114Ala)
c.290+18A>C (n.290+18A>C)
c.470A>C (p.Asp157Ala)
19g.29702831C>ACA405142815C19orf12c.307G>T (p.Asp103Tyr)
n.698G>T
c.115G>T (p.Asp39Tyr)
c.340G>T (p.Asp114Tyr)
c.290+17G>T (n.290+17G>T)
c.469G>T (p.Asp157Tyr)
19g.29702831C>GCA405142818C19orf12c.307G>C (p.Asp103His)
n.698G>C
c.115G>C (p.Asp39His)
c.340G>C (p.Asp114His)
c.290+17G>C (n.290+17G>C)
c.469G>C (p.Asp157His)
19g.29702831C>TCA405142812C19orf12c.307G>A (p.Asp103Asn)
n.698G>A
c.115G>A (p.Asp39Asn)
c.340G>A (p.Asp114Asn)
c.290+17G>A (n.290+17G>A)
c.469G>A (p.Asp157Asn)
19g.29702832C>ACA506987051C19orf12c.306G>T (p.Thr102=)
n.697G>T
c.114G>T (p.Thr38=)
c.339G>T (p.Thr113=)
c.290+16G>T (n.290+16G>T)
c.468G>T (p.Thr156=)
19g.29702832C=CA2330913564C19orf12c.306G= (p.Thr102=)
n.697G=
c.114G= (p.Thr38=)
c.339G= (p.Thr113=)
c.290+16G= (n.290+16G=)
c.468G= (p.Thr156=)
19g.29702832C>GCA9351890C19orf12c.306G>C (p.Thr102=)
n.697G>C
c.114G>C (p.Thr38=)
c.339G>C (p.Thr113=)
c.290+16G>C (n.290+16G>C)
c.468G>C (p.Thr156=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702832C>TCA9351889C19orf12c.306G>A (p.Thr102=)
n.697G>A
c.114G>A (p.Thr38=)
c.339G>A (p.Thr113=)
c.290+16G>A (n.290+16G>A)
c.468G>A (p.Thr156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702833G>ACA9351891C19orf12c.305C>T (p.Thr102Met)
n.696C>T
c.113C>T (p.Thr38Met)
c.338C>T (p.Thr113Met)
c.290+15C>T (n.290+15C>T)
c.467C>T (p.Thr156Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702833G>CCA405142823C19orf12c.305C>G (p.Thr102Arg)
n.696C>G
c.113C>G (p.Thr38Arg)
c.338C>G (p.Thr113Arg)
c.290+15C>G (n.290+15C>G)
c.467C>G (p.Thr156Arg)
19g.29702833G=CA2330913565C19orf12c.305C= (p.Thr102=)
n.696C=
c.113C= (p.Thr38=)
c.338C= (p.Thr113=)
c.290+15C= (n.290+15C=)
c.467C= (p.Thr156=)
19g.29702833G>TCA405142825C19orf12c.305C>A (p.Thr102Lys)
n.696C>A
c.113C>A (p.Thr38Lys)
c.338C>A (p.Thr113Lys)
c.290+15C>A (n.290+15C>A)
c.467C>A (p.Thr156Lys)
19g.29702833_29702835delinsTGTGCA2580060375C19orf12c.303_305delinsCACA (p.Trp101CysfsTer?)
n.694_696delinsCACA
c.111_113delinsCACA (p.Trp37CysfsTer?)
c.336_338delinsCACA (p.Trp112CysfsTer?)
c.290+13_290+15delinsCACA (n.290+13_290+15delinsCACA)
c.465_467delinsCACA (p.Trp155CysfsTer?)
19g.29702834T>ACA405142832C19orf12c.304A>T (p.Thr102Ser)
n.695A>T
c.112A>T (p.Thr38Ser)
c.337A>T (p.Thr113Ser)
c.290+14A>T (n.290+14A>T)
c.466A>T (p.Thr156Ser)
 ClinVar gnomAD v4
19g.29702834T>CCA405142827C19orf12c.304A>G (p.Thr102Ala)
n.695A>G
c.112A>G (p.Thr38Ala)
c.337A>G (p.Thr113Ala)
c.290+14A>G (n.290+14A>G)
c.466A>G (p.Thr156Ala)
19g.29702834T>GCA405142829C19orf12c.304A>C (p.Thr102Pro)
n.695A>C
c.112A>C (p.Thr38Pro)
c.337A>C (p.Thr113Pro)
c.290+14A>C (n.290+14A>C)
c.466A>C (p.Thr156Pro)
19g.29702835C>ACA405142834C19orf12c.303G>T (p.Trp101Cys)
n.694G>T
c.111G>T (p.Trp37Cys)
c.336G>T (p.Trp112Cys)
c.290+13G>T (n.290+13G>T)
c.465G>T (p.Trp155Cys)
19g.29702835C=CA2330913566C19orf12c.303G= (p.Trp101=)
n.694G=
c.111G= (p.Trp37=)
c.336G= (p.Trp112=)
c.290+13G= (n.290+13G=)
c.465G= (p.Trp155=)
19g.29702835C>GCA405142836C19orf12c.303G>C (p.Trp101Cys)
n.694G>C
c.111G>C (p.Trp37Cys)
c.336G>C (p.Trp112Cys)
c.290+13G>C (n.290+13G>C)
c.465G>C (p.Trp155Cys)
19g.29702835C>TCA405142838C19orf12c.303G>A (p.Trp101Ter)
n.694G>A
c.111G>A (p.Trp37Ter)
c.336G>A (p.Trp112Ter)
c.290+13G>A (n.290+13G>A)
c.465G>A (p.Trp155Ter)
 ClinVar dbSNP
19g.29702836C>ACA405142841C19orf12c.302G>T (p.Trp101Leu)
n.693G>T
c.110G>T (p.Trp37Leu)
c.335G>T (p.Trp112Leu)
c.290+12G>T (n.290+12G>T)
c.464G>T (p.Trp155Leu)
19g.29702836C>GCA405142842C19orf12c.302G>C (p.Trp101Ser)
n.693G>C
c.110G>C (p.Trp37Ser)
c.335G>C (p.Trp112Ser)
c.290+12G>C (n.290+12G>C)
c.464G>C (p.Trp155Ser)
19g.29702836C>TCA405142844C19orf12c.302G>A (p.Trp101Ter)
n.693G>A
c.110G>A (p.Trp37Ter)
c.335G>A (p.Trp112Ter)
c.290+12G>A (n.290+12G>A)
c.464G>A (p.Trp155Ter)
19g.29702837A>CCA405142848C19orf12c.301T>G (p.Trp101Gly)
n.692T>G
c.109T>G (p.Trp37Gly)
c.334T>G (p.Trp112Gly)
c.290+11T>G (n.290+11T>G)
c.463T>G (p.Trp155Gly)
19g.29702837A>GCA405142850C19orf12c.301T>C (p.Trp101Arg)
n.692T>C
c.109T>C (p.Trp37Arg)
c.334T>C (p.Trp112Arg)
c.290+11T>C (n.290+11T>C)
c.463T>C (p.Trp155Arg)
19g.29702837A>TCA405142847C19orf12c.301T>A (p.Trp101Arg)
n.692T>A
c.109T>A (p.Trp37Arg)
c.334T>A (p.Trp112Arg)
c.290+11T>A (n.290+11T>A)
c.463T>A (p.Trp155Arg)
19g.29702838C>ACA405142853C19orf12c.300G>T (p.Glu100Asp)
n.691G>T
c.108G>T (p.Glu36Asp)
c.333G>T (p.Glu111Asp)
c.290+10G>T (n.290+10G>T)
c.462G>T (p.Glu154Asp)
 dbSNP gnomAD v3 gnomAD v4
19g.29702838C=CA2330913567C19orf12c.300G= (p.Glu100=)
n.691G=
c.108G= (p.Glu36=)
c.333G= (p.Glu111=)
c.290+10G= (n.290+10G=)
c.462G= (p.Glu154=)
19g.29702838C>GCA405142855C19orf12c.300G>C (p.Glu100Asp)
n.691G>C
c.108G>C (p.Glu36Asp)
c.333G>C (p.Glu111Asp)
c.290+10G>C (n.290+10G>C)
c.462G>C (p.Glu154Asp)
 dbSNP
19g.29702838C>TCA506987668C19orf12c.300G>A (p.Glu100=)
n.691G>A
c.108G>A (p.Glu36=)
c.333G>A (p.Glu111=)
c.290+10G>A (n.290+10G>A)
c.462G>A (p.Glu154=)
 dbSNP
19g.29702839T>ACA405142858C19orf12c.299A>T (p.Glu100Val)
n.690A>T
c.107A>T (p.Glu36Val)
c.332A>T (p.Glu111Val)
c.290+9A>T (n.290+9A>T)
c.461A>T (p.Glu154Val)
19g.29702839T>CCA405142860C19orf12c.299A>G (p.Glu100Gly)
n.690A>G
c.107A>G (p.Glu36Gly)
c.332A>G (p.Glu111Gly)
c.290+9A>G (n.290+9A>G)
c.461A>G (p.Glu154Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.29702839T>GCA405142861C19orf12c.299A>C (p.Glu100Ala)
n.690A>C
c.107A>C (p.Glu36Ala)
c.332A>C (p.Glu111Ala)
c.290+9A>C (n.290+9A>C)
c.461A>C (p.Glu154Ala)
19g.29702839T=CA2330913568C19orf12c.299A= (p.Glu100=)
n.690A=
c.107A= (p.Glu36=)
c.332A= (p.Glu111=)
c.290+9A= (n.290+9A=)
c.461A= (p.Glu154=)
19g.29702840C>ACA405142863C19orf12c.298G>T (p.Glu100Ter)
n.689G>T
c.106G>T (p.Glu36Ter)
c.331G>T (p.Glu111Ter)
c.290+8G>T (n.290+8G>T)
c.460G>T (p.Glu154Ter)
19g.29702840C=CA2330913569C19orf12c.298G= (p.Glu100=)
n.689G=
c.106G= (p.Glu36=)
c.331G= (p.Glu111=)
c.290+8G= (n.290+8G=)
c.460G= (p.Glu154=)
19g.29702840C>GCA405142865C19orf12c.298G>C (p.Glu100Gln)
n.689G>C
c.106G>C (p.Glu36Gln)
c.331G>C (p.Glu111Gln)
c.290+8G>C (n.290+8G>C)
c.460G>C (p.Glu154Gln)
19g.29702840C>TCA306785293C19orf12c.298G>A (p.Glu100Lys)
n.689G>A
c.106G>A (p.Glu36Lys)
c.331G>A (p.Glu111Lys)
c.290+8G>A (n.290+8G>A)
c.460G>A (p.Glu154Lys)
 dbSNP gnomAD v4
19g.29702841C>ACA506987681C19orf12c.297G>T (p.Leu99=)
n.688G>T
c.105G>T (p.Leu35=)
c.330G>T (p.Leu110=)
c.290+7G>T (n.290+7G>T)
c.459G>T (p.Leu153=)
19g.29702841C>GCA506987683C19orf12c.297G>C (p.Leu99=)
n.688G>C
c.105G>C (p.Leu35=)
c.330G>C (p.Leu110=)
c.290+7G>C (n.290+7G>C)
c.459G>C (p.Leu153=)
19g.29702841C>TCA506987685C19orf12c.297G>A (p.Leu99=)
n.688G>A
c.105G>A (p.Leu35=)
c.330G>A (p.Leu110=)
c.290+7G>A (n.290+7G>A)
c.459G>A (p.Leu153=)
19g.29702842A=CA2330913570C19orf12c.296T= (p.Leu99=)
c.*210T= (n.*210T=)
n.687T=
c.104T= (p.Leu35=)
c.329T= (p.Leu110=)
c.290+6T= (n.290+6T=)
c.458T= (p.Leu153=)
19g.29702842A>CCA405142870C19orf12c.296T>G (p.Leu99Arg)
c.*210T>G (n.*210T>G)
n.687T>G
c.104T>G (p.Leu35Arg)
c.329T>G (p.Leu110Arg)
c.290+6T>G (n.290+6T>G)
c.458T>G (p.Leu153Arg)
19g.29702842A>GCA405142874C19orf12c.296T>C (p.Leu99Pro)
c.*210T>C (n.*210T>C)
n.687T>C
c.104T>C (p.Leu35Pro)
c.329T>C (p.Leu110Pro)
c.290+6T>C (n.290+6T>C)
c.458T>C (p.Leu153Pro)
19g.29702842A>TCA405142871C19orf12c.296T>A (p.Leu99Gln)
c.*210T>A (n.*210T>A)
n.687T>A
c.104T>A (p.Leu35Gln)
c.329T>A (p.Leu110Gln)
c.290+6T>A (n.290+6T>A)
c.458T>A (p.Leu153Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.29702843G>ACA506987695C19orf12c.295C>T (p.Leu99=)
c.*209C>T (n.*209C>T)
n.686C>T
c.103C>T (p.Leu35=)
c.328C>T (p.Leu110=)
c.290+5C>T (n.290+5C>T)
c.457C>T (p.Leu153=)
19g.29702843G>CCA405142876C19orf12c.295C>G (p.Leu99Val)
c.*209C>G (n.*209C>G)
n.686C>G
c.103C>G (p.Leu35Val)
c.328C>G (p.Leu110Val)
c.290+5C>G (n.290+5C>G)
c.457C>G (p.Leu153Val)
19g.29702843G>TCA405142878C19orf12c.295C>A (p.Leu99Met)
c.*209C>A (n.*209C>A)
n.686C>A
c.103C>A (p.Leu35Met)
c.328C>A (p.Leu110Met)
c.290+5C>A (n.290+5C>A)
c.457C>A (p.Leu153Met)
19g.29702844G>ACA506987702C19orf12c.294C>T (p.His98=)
c.*208C>T (n.*208C>T)
n.685C>T
c.102C>T (p.His34=)
c.327C>T (p.His109=)
c.290+4C>T (n.290+4C>T)
c.456C>T (p.His152=)
 gnomAD v4
19g.29702844G>CCA405142879C19orf12c.294C>G (p.His98Gln)
c.*208C>G (n.*208C>G)
n.685C>G
c.102C>G (p.His34Gln)
c.327C>G (p.His109Gln)
c.290+4C>G (n.290+4C>G)
c.456C>G (p.His152Gln)
 ClinVar dbSNP
19g.29702844G>TCA405142881C19orf12c.294C>A (p.His98Gln)
c.*208C>A (n.*208C>A)
n.685C>A
c.102C>A (p.His34Gln)
c.327C>A (p.His109Gln)
c.290+4C>A (n.290+4C>A)
c.456C>A (p.His152Gln)
 gnomAD v4
19g.29702845T>ACA405142884C19orf12c.293A>T (p.His98Leu)
c.*207A>T (n.*207A>T)
n.684A>T
c.101A>T (p.His34Leu)
c.326A>T (p.His109Leu)
c.290+3A>T (n.290+3A>T)
c.455A>T (p.His152Leu)
19g.29702845T>CCA405142888C19orf12c.293A>G (p.His98Arg)
c.*207A>G (n.*207A>G)
n.684A>G
c.101A>G (p.His34Arg)
c.326A>G (p.His109Arg)
c.290+3A>G (n.290+3A>G)
c.455A>G (p.His152Arg)
19g.29702845T>GCA405142885C19orf12c.293A>C (p.His98Pro)
c.*207A>C (n.*207A>C)
n.684A>C
c.101A>C (p.His34Pro)
c.326A>C (p.His109Pro)
c.290+3A>C (n.290+3A>C)
c.455A>C (p.His152Pro)
19g.29702846G>ACA405142890C19orf12c.292C>T (p.His98Tyr)
c.*206C>T (n.*206C>T)
n.683C>T
c.100C>T (p.His34Tyr)
c.325C>T (p.His109Tyr)
c.290+2C>T (n.290+2C>T)
c.454C>T (p.His152Tyr)
19g.29702846G>CCA405142892C19orf12c.292C>G (p.His98Asp)
c.*206C>G (n.*206C>G)
n.683C>G
c.100C>G (p.His34Asp)
c.325C>G (p.His109Asp)
c.290+2C>G (n.290+2C>G)
c.454C>G (p.His152Asp)
19g.29702846G=CA2330913571C19orf12c.292C= (p.His98=)
c.*206C= (n.*206C=)
n.683C=
c.100C= (p.His34=)
c.325C= (p.His109=)
c.290+2C= (n.290+2C=)
c.454C= (p.His152=)
19g.29702846G>TCA405142895C19orf12c.292C>A (p.His98Asn)
c.*206C>A (n.*206C>A)
n.683C>A
c.100C>A (p.His34Asn)
c.325C>A (p.His109Asn)
c.290+2C>A (n.290+2C>A)
c.454C>A (p.His152Asn)
 dbSNP gnomAD v3 gnomAD v4
19g.29702847C>ACA405142901C19orf12c.291G>T (p.Arg97Ser)
c.*205G>T (n.*205G>T)
n.682G>T
c.99G>T (p.Arg33Ser)
c.324G>T (p.Arg108Ser)
c.290+1G>T (n.290+1G>T)
c.453G>T (p.Arg151Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.29702847C=CA2330913572C19orf12c.291G= (p.Arg97=)
c.*205G= (n.*205G=)
n.682G=
c.99G= (p.Arg33=)
c.324G= (p.Arg108=)
c.290+1G= (n.290+1G=)
c.453G= (p.Arg151=)
19g.29702847C>GCA405142903C19orf12c.291G>C (p.Arg97Ser)
c.*205G>C (n.*205G>C)
n.682G>C
c.99G>C (p.Arg33Ser)
c.324G>C (p.Arg108Ser)
c.290+1G>C (n.290+1G>C)
c.453G>C (p.Arg151Ser)
19g.29702847C>TCA405142904C19orf12c.291G>A (p.Arg97=)
c.*205G>A (n.*205G>A)
n.682G>A
c.99G>A (p.Arg33=)
c.324G>A (p.Arg108=)
c.290+1G>A (n.290+1G>A)
c.453G>A (p.Arg151=)
 dbSNP gnomAD v3 gnomAD v4
19g.29702848C>ACA405142907C19orf12c.290G>T (p.Arg97Met)
c.*204G>T (n.*204G>T)
n.681G>T
c.98G>T (p.Arg33Met)
c.323G>T (p.Arg108Met)
c.452G>T (p.Arg151Met)
19g.29702848C=CA2330913573C19orf12c.290G= (p.Arg97=)
c.*204G= (n.*204G=)
n.681G=
c.98G= (p.Arg33=)
c.323G= (p.Arg108=)
c.452G= (p.Arg151=)
19g.29702848C>GCA405142908C19orf12c.290G>C (p.Arg97Thr)
c.*204G>C (n.*204G>C)
n.681G>C
c.98G>C (p.Arg33Thr)
c.323G>C (p.Arg108Thr)
c.452G>C (p.Arg151Thr)
19g.29702848C>TCA9351892C19orf12c.290G>A (p.Arg97Lys)
c.*204G>A (n.*204G>A)
n.681G>A
c.98G>A (p.Arg33Lys)
c.323G>A (p.Arg108Lys)
c.452G>A (p.Arg151Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702849T>ACA405142911C19orf12c.289A>T (p.Arg97Trp)
c.*203A>T (n.*203A>T)
n.680A>T
c.97A>T (p.Arg33Trp)
c.322A>T (p.Arg108Trp)
c.451A>T (p.Arg151Trp)
19g.29702849T>CCA306785304C19orf12c.289A>G (p.Arg97Gly)
c.*203A>G (n.*203A>G)
n.680A>G
c.97A>G (p.Arg33Gly)
c.322A>G (p.Arg108Gly)
c.451A>G (p.Arg151Gly)
 dbSNP
19g.29702849T>GCA506987733C19orf12c.289A>C (p.Arg97=)
c.*203A>C (n.*203A>C)
n.680A>C
c.97A>C (p.Arg33=)
c.322A>C (p.Arg108=)
c.451A>C (p.Arg151=)
19g.29702849T=CA2330913574C19orf12c.289A= (p.Arg97=)
c.*203A= (n.*203A=)
n.680A=
c.97A= (p.Arg33=)
c.322A= (p.Arg108=)
c.451A= (p.Arg151=)
19g.29702850G>ACA506987736C19orf12c.288C>T (p.Ile96=)
c.*202C>T (n.*202C>T)
n.679C>T
c.96C>T (p.Ile32=)
c.321C>T (p.Ile107=)
c.450C>T (p.Ile150=)
19g.29702850G>CCA405142914C19orf12c.288C>G (p.Ile96Met)
c.*202C>G (n.*202C>G)
n.679C>G
c.96C>G (p.Ile32Met)
c.321C>G (p.Ile107Met)
c.450C>G (p.Ile150Met)
19g.29702850G>TCA506987741C19orf12c.288C>A (p.Ile96=)
c.*202C>A (n.*202C>A)
n.679C>A
c.96C>A (p.Ile32=)
c.321C>A (p.Ile107=)
c.450C>A (p.Ile150=)
19g.29702851A>CCA405142915C19orf12c.287T>G (p.Ile96Ser)
c.*201T>G (n.*201T>G)
n.678T>G
c.95T>G (p.Ile32Ser)
c.320T>G (p.Ile107Ser)
c.449T>G (p.Ile150Ser)
 gnomAD v4
19g.29702851A>GCA405142919C19orf12c.287T>C (p.Ile96Thr)
c.*201T>C (n.*201T>C)
n.678T>C
c.95T>C (p.Ile32Thr)
c.320T>C (p.Ile107Thr)
c.449T>C (p.Ile150Thr)
19g.29702851A>TCA405142917C19orf12c.287T>A (p.Ile96Asn)
c.*201T>A (n.*201T>A)
n.678T>A
c.95T>A (p.Ile32Asn)
c.320T>A (p.Ile107Asn)
c.449T>A (p.Ile150Asn)
19g.29702852T>ACA405142921C19orf12c.286A>T (p.Ile96Phe)
c.*200A>T (n.*200A>T)
n.677A>T
c.94A>T (p.Ile32Phe)
c.319A>T (p.Ile107Phe)
c.448A>T (p.Ile150Phe)
 gnomAD v4
19g.29702852T>CCA405142923C19orf12c.286A>G (p.Ile96Val)
c.*200A>G (n.*200A>G)
n.677A>G
c.94A>G (p.Ile32Val)
c.319A>G (p.Ile107Val)
c.448A>G (p.Ile150Val)
 ClinVar gnomAD v4
19g.29702852T>GCA405142925C19orf12c.286A>C (p.Ile96Leu)
c.*200A>C (n.*200A>C)
n.677A>C
c.94A>C (p.Ile32Leu)
c.319A>C (p.Ile107Leu)
c.448A>C (p.Ile150Leu)
 dbSNP
19g.29702852T=CA2330913575C19orf12c.286A= (p.Ile96=)
c.*200A= (n.*200A=)
n.677A=
c.94A= (p.Ile32=)
c.319A= (p.Ile107=)
c.448A= (p.Ile150=)
19g.29702853G>ACA506987755C19orf12c.285C>T (p.Ile95=)
c.*199C>T (n.*199C>T)
n.676C>T
c.93C>T (p.Ile31=)
c.318C>T (p.Ile106=)
c.447C>T (p.Ile149=)
19g.29702853G>CCA9351893C19orf12c.285C>G (p.Ile95Met)
c.*199C>G (n.*199C>G)
n.676C>G
c.93C>G (p.Ile31Met)
c.318C>G (p.Ile106Met)
c.447C>G (p.Ile149Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702853G=CA2330913576C19orf12c.285C= (p.Ile95=)
c.*199C= (n.*199C=)
n.676C=
c.93C= (p.Ile31=)
c.318C= (p.Ile106=)
c.447C= (p.Ile149=)
19g.29702853G>TCA506987759C19orf12c.285C>A (p.Ile95=)
c.*199C>A (n.*199C>A)
n.676C>A
c.93C>A (p.Ile31=)
c.318C>A (p.Ile106=)
c.447C>A (p.Ile149=)
19g.29702854A>CCA405142929C19orf12c.284T>G (p.Ile95Ser)
c.*198T>G (n.*198T>G)
n.675T>G
c.92T>G (p.Ile31Ser)
c.317T>G (p.Ile106Ser)
c.446T>G (p.Ile149Ser)
19g.29702854A>GCA405142931C19orf12c.284T>C (p.Ile95Thr)
c.*198T>C (n.*198T>C)
n.675T>C
c.92T>C (p.Ile31Thr)
c.317T>C (p.Ile106Thr)
c.446T>C (p.Ile149Thr)
19g.29702854A>TCA405142933C19orf12c.284T>A (p.Ile95Asn)
c.*198T>A (n.*198T>A)
n.675T>A
c.92T>A (p.Ile31Asn)
c.317T>A (p.Ile106Asn)
c.446T>A (p.Ile149Asn)
19g.29702855T>ACA405142936C19orf12c.283A>T (p.Ile95Phe)
c.*197A>T (n.*197A>T)
n.674A>T
c.91A>T (p.Ile31Phe)
c.316A>T (p.Ile106Phe)
c.445A>T (p.Ile149Phe)
19g.29702855T>CCA405142938C19orf12c.283A>G (p.Ile95Val)
c.*197A>G (n.*197A>G)
n.674A>G
c.91A>G (p.Ile31Val)
c.316A>G (p.Ile106Val)
c.445A>G (p.Ile149Val)
 gnomAD v4
19g.29702855T>GCA405142939C19orf12c.283A>C (p.Ile95Leu)
c.*197A>C (n.*197A>C)
n.674A>C
c.91A>C (p.Ile31Leu)
c.316A>C (p.Ile106Leu)
c.445A>C (p.Ile149Leu)
19g.29702855T=CA2330913577C19orf12c.283A= (p.Ile95=)
c.*197A= (n.*197A=)
n.674A=
c.91A= (p.Ile31=)
c.316A= (p.Ile106=)
c.445A= (p.Ile149=)
19g.29702856G>ACA506987770C19orf12c.282C>T (p.Ala94=)
c.*196C>T (n.*196C>T)
n.673C>T
c.90C>T (p.Ala30=)
c.315C>T (p.Ala105=)
c.444C>T (p.Ala148=)
 gnomAD v4 COSMIC COSMIC
19g.29702856G>CCA506987773C19orf12c.282C>G (p.Ala94=)
c.*196C>G (n.*196C>G)
n.673C>G
c.90C>G (p.Ala30=)
c.315C>G (p.Ala105=)
c.444C>G (p.Ala148=)
19g.29702856G>TCA506987776C19orf12c.282C>A (p.Ala94=)
c.*196C>A (n.*196C>A)
n.673C>A
c.90C>A (p.Ala30=)
c.315C>A (p.Ala105=)
c.444C>A (p.Ala148=)
19g.29702857dupCA658658799C19orf12c.282dup (p.Ile95HisfsTer?)
c.*196dup (n.*196dup)
n.673dup
c.90dup (p.Ile31HisfsTer?)
c.315dup (p.Ile106HisfsTer?)
c.282dup (p.Ile95HisfsTer30)
c.444dup (p.Ile149HisfsTer?)
 ClinVar dbSNP
19g.29702857G>ACA306785310C19orf12c.281C>T (p.Ala94Val)
c.*195C>T (n.*195C>T)
n.672C>T
c.89C>T (p.Ala30Val)
c.314C>T (p.Ala105Val)
c.443C>T (p.Ala148Val)
 dbSNP COSMIC COSMIC
19g.29702857G>CCA405142949C19orf12c.281C>G (p.Ala94Gly)
c.*195C>G (n.*195C>G)
n.672C>G
c.89C>G (p.Ala30Gly)
c.314C>G (p.Ala105Gly)
c.443C>G (p.Ala148Gly)
19g.29702857G=CA2330913578C19orf12c.281C= (p.Ala94=)
c.*195C= (n.*195C=)
n.672C=
c.89C= (p.Ala30=)
c.314C= (p.Ala105=)
c.443C= (p.Ala148=)
19g.29702857G>TCA405142951C19orf12c.281C>A (p.Ala94Asp)
c.*195C>A (n.*195C>A)
n.672C>A
c.89C>A (p.Ala30Asp)
c.314C>A (p.Ala105Asp)
c.443C>A (p.Ala148Asp)
19g.29702858C>ACA405142958C19orf12c.280G>T (p.Ala94Ser)
c.*194G>T (n.*194G>T)
n.671G>T
c.88G>T (p.Ala30Ser)
c.313G>T (p.Ala105Ser)
c.442G>T (p.Ala148Ser)
19g.29702858C>GCA405142954C19orf12c.280G>C (p.Ala94Pro)
c.*194G>C (n.*194G>C)
n.671G>C
c.88G>C (p.Ala30Pro)
c.313G>C (p.Ala105Pro)
c.442G>C (p.Ala148Pro)
19g.29702858C>TCA405142956C19orf12c.280G>A (p.Ala94Thr)
c.*194G>A (n.*194G>A)
n.671G>A
c.88G>A (p.Ala30Thr)
c.313G>A (p.Ala105Thr)
c.442G>A (p.Ala148Thr)
19g.29702859delCA2573156223C19orf12c.279del (p.Ala94ProfsTer14)
c.*193del (n.*193del)
n.670del
c.87del (p.Ala30ProfsTer14)
c.312del (p.Ala105ProfsTer14)
c.279del (p.Ala94ProfsTer?)
c.279del (p.Ala94ProfsTer28)
c.441del (p.Ala148ProfsTer14)
 ClinVar dbSNP
19g.29702859T>ACA506987788C19orf12c.279A>T (p.Ala93=)
c.*193A>T (n.*193A>T)
n.670A>T
c.87A>T (p.Ala29=)
c.312A>T (p.Ala104=)
c.441A>T (p.Ala147=)
19g.29702859T>CCA506987790C19orf12c.279A>G (p.Ala93=)
c.*193A>G (n.*193A>G)
n.670A>G
c.87A>G (p.Ala29=)
c.312A>G (p.Ala104=)
c.441A>G (p.Ala147=)
 gnomAD v4
19g.29702859T>GCA506987792C19orf12c.279A>C (p.Ala93=)
c.*193A>C (n.*193A>C)
n.670A>C
c.87A>C (p.Ala29=)
c.312A>C (p.Ala104=)
c.441A>C (p.Ala147=)
 gnomAD v4
19g.29702860G>ACA405142960C19orf12c.278C>T (p.Ala93Val)
c.*192C>T (n.*192C>T)
n.669C>T
c.86C>T (p.Ala29Val)
c.311C>T (p.Ala104Val)
c.440C>T (p.Ala147Val)
19g.29702860G>CCA405142962C19orf12c.278C>G (p.Ala93Gly)
c.*192C>G (n.*192C>G)
n.669C>G
c.86C>G (p.Ala29Gly)
c.311C>G (p.Ala104Gly)
c.440C>G (p.Ala147Gly)
19g.29702860G>TCA405142963C19orf12c.278C>A (p.Ala93Glu)
c.*192C>A (n.*192C>A)
n.669C>A
c.86C>A (p.Ala29Glu)
c.311C>A (p.Ala104Glu)
c.440C>A (p.Ala147Glu)
19g.29702861C>ACA405142967C19orf12c.277G>T (p.Ala93Ser)
c.*191G>T (n.*191G>T)
n.668G>T
c.85G>T (p.Ala29Ser)
c.310G>T (p.Ala104Ser)
c.439G>T (p.Ala147Ser)
 ClinVar
19g.29702861C=CA2330913579C19orf12c.277G= (p.Ala93=)
c.*191G= (n.*191G=)
n.668G=
c.85G= (p.Ala29=)
c.310G= (p.Ala104=)
c.439G= (p.Ala147=)
19g.29702861C>GCA405142972C19orf12c.277G>C (p.Ala93Pro)
c.*191G>C (n.*191G>C)
n.668G>C
c.85G>C (p.Ala29Pro)
c.310G>C (p.Ala104Pro)
c.439G>C (p.Ala147Pro)
19g.29702861C>TCA306785312C19orf12c.277G>A (p.Ala93Thr)
c.*191G>A (n.*191G>A)
n.668G>A
c.85G>A (p.Ala29Thr)
c.310G>A (p.Ala104Thr)
c.439G>A (p.Ala147Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.29702862G>ACA9351894C19orf12c.276C>T (p.Ala92=)
c.*190C>T (n.*190C>T)
n.667C>T
c.84C>T (p.Ala28=)
c.309C>T (p.Ala103=)
c.438C>T (p.Ala146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702862G>CCA506987816C19orf12c.276C>G (p.Ala92=)
c.*190C>G (n.*190C>G)
n.667C>G
c.84C>G (p.Ala28=)
c.309C>G (p.Ala103=)
c.438C>G (p.Ala146=)
19g.29702862G=CA2330913580C19orf12c.276C= (p.Ala92=)
c.*190C= (n.*190C=)
n.667C=
c.84C= (p.Ala28=)
c.309C= (p.Ala103=)
c.438C= (p.Ala146=)
19g.29702862G>TCA9351895C19orf12c.276C>A (p.Ala92=)
c.*190C>A (n.*190C>A)
n.667C>A
c.84C>A (p.Ala28=)
c.309C>A (p.Ala103=)
c.438C>A (p.Ala146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702863G>ACA405142979C19orf12c.275C>T (p.Ala92Val)
c.*189C>T (n.*189C>T)
n.666C>T
c.83C>T (p.Ala28Val)
c.308C>T (p.Ala103Val)
c.437C>T (p.Ala146Val)
19g.29702863G>CCA405142981C19orf12c.275C>G (p.Ala92Gly)
c.*189C>G (n.*189C>G)
n.666C>G
c.83C>G (p.Ala28Gly)
c.308C>G (p.Ala103Gly)
c.437C>G (p.Ala146Gly)
19g.29702863G>TCA405142983C19orf12c.275C>A (p.Ala92Asp)
c.*189C>A (n.*189C>A)
n.666C>A
c.83C>A (p.Ala28Asp)
c.308C>A (p.Ala103Asp)
c.437C>A (p.Ala146Asp)

Number of alleles fetched