Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.77482244G>A | CA501952101 | SEPTIN9 | c.768G>A (p.Val256=) c.822G>A (p.Val274=) c.330G>A (p.Val110=) n.126G>A n.871G>A c.69G>A (p.Val23=) c.801G>A (p.Val267=) c.486G>A (p.Val162=) c.150G>A (p.Val50=) c.196-5238G>A (n.196-5238G>A) c.273G>A (p.Val91=) c.765G>A (p.Val255=) c.249G>A (p.Val83=) n.386G>A c.915G>A (p.Val305=) c.912G>A (p.Val304=) c.777G>A (p.Val259=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482244G>C | CA501952099 | SEPTIN9 | c.768G>C (p.Val256=) c.822G>C (p.Val274=) c.330G>C (p.Val110=) n.126G>C n.871G>C c.69G>C (p.Val23=) c.801G>C (p.Val267=) c.486G>C (p.Val162=) c.150G>C (p.Val50=) c.196-5238G>C (n.196-5238G>C) c.273G>C (p.Val91=) c.765G>C (p.Val255=) c.249G>C (p.Val83=) n.386G>C c.915G>C (p.Val305=) c.912G>C (p.Val304=) c.777G>C (p.Val259=) | |
17 | g.77482244G= | CA2276500433 | SEPTIN9 | c.768G= (p.Val256=) c.822G= (p.Val274=) c.330G= (p.Val110=) n.126G= n.871G= c.69G= (p.Val23=) c.801G= (p.Val267=) c.486G= (p.Val162=) c.150G= (p.Val50=) c.196-5238G= (n.196-5238G=) c.273G= (p.Val91=) c.765G= (p.Val255=) c.249G= (p.Val83=) n.386G= c.915G= (p.Val305=) c.912G= (p.Val304=) c.777G= (p.Val259=) | |
17 | g.77482244G>T | CA501952100 | SEPTIN9 | c.768G>T (p.Val256=) c.822G>T (p.Val274=) c.330G>T (p.Val110=) n.126G>T n.871G>T c.69G>T (p.Val23=) c.801G>T (p.Val267=) c.486G>T (p.Val162=) c.150G>T (p.Val50=) c.196-5238G>T (n.196-5238G>T) c.273G>T (p.Val91=) c.765G>T (p.Val255=) c.249G>T (p.Val83=) n.386G>T c.915G>T (p.Val305=) c.912G>T (p.Val304=) c.777G>T (p.Val259=) | |
17 | g.77482245G>A | CA401207875 | SEPTIN9 | c.769G>A (p.Asp257Asn) c.823G>A (p.Asp275Asn) c.331G>A (p.Asp111Asn) n.127G>A n.872G>A c.70G>A (p.Asp24Asn) c.802G>A (p.Asp268Asn) c.487G>A (p.Asp163Asn) c.151G>A (p.Asp51Asn) c.196-5237G>A (n.196-5237G>A) c.274G>A (p.Asp92Asn) c.766G>A (p.Asp256Asn) c.250G>A (p.Asp84Asn) n.387G>A c.916G>A (p.Asp306Asn) c.913G>A (p.Asp305Asn) c.778G>A (p.Asp260Asn) | |
17 | g.77482245G>C | CA401207876 | SEPTIN9 | c.769G>C (p.Asp257His) c.823G>C (p.Asp275His) c.331G>C (p.Asp111His) n.127G>C n.872G>C c.70G>C (p.Asp24His) c.802G>C (p.Asp268His) c.487G>C (p.Asp163His) c.151G>C (p.Asp51His) c.196-5237G>C (n.196-5237G>C) c.274G>C (p.Asp92His) c.766G>C (p.Asp256His) c.250G>C (p.Asp84His) n.387G>C c.916G>C (p.Asp306His) c.913G>C (p.Asp305His) c.778G>C (p.Asp260His) | gnomAD v4 |
17 | g.77482245G>T | CA401207877 | SEPTIN9 | c.769G>T (p.Asp257Tyr) c.823G>T (p.Asp275Tyr) c.331G>T (p.Asp111Tyr) n.127G>T n.872G>T c.70G>T (p.Asp24Tyr) c.802G>T (p.Asp268Tyr) c.487G>T (p.Asp163Tyr) c.151G>T (p.Asp51Tyr) c.196-5237G>T (n.196-5237G>T) c.274G>T (p.Asp92Tyr) c.766G>T (p.Asp256Tyr) c.250G>T (p.Asp84Tyr) n.387G>T c.916G>T (p.Asp306Tyr) c.913G>T (p.Asp305Tyr) c.778G>T (p.Asp260Tyr) | |
17 | g.77482246A>C | CA401207878 | SEPTIN9 | c.770A>C (p.Asp257Ala) c.824A>C (p.Asp275Ala) c.332A>C (p.Asp111Ala) n.128A>C n.873A>C c.71A>C (p.Asp24Ala) c.803A>C (p.Asp268Ala) c.488A>C (p.Asp163Ala) c.152A>C (p.Asp51Ala) c.196-5236A>C (n.196-5236A>C) c.275A>C (p.Asp92Ala) c.767A>C (p.Asp256Ala) c.251A>C (p.Asp84Ala) n.388A>C c.917A>C (p.Asp306Ala) c.914A>C (p.Asp305Ala) c.779A>C (p.Asp260Ala) | |
17 | g.77482246A>G | CA401207879 | SEPTIN9 | c.770A>G (p.Asp257Gly) c.824A>G (p.Asp275Gly) c.332A>G (p.Asp111Gly) n.128A>G n.873A>G c.71A>G (p.Asp24Gly) c.803A>G (p.Asp268Gly) c.488A>G (p.Asp163Gly) c.152A>G (p.Asp51Gly) c.196-5236A>G (n.196-5236A>G) c.275A>G (p.Asp92Gly) c.767A>G (p.Asp256Gly) c.251A>G (p.Asp84Gly) n.388A>G c.917A>G (p.Asp306Gly) c.914A>G (p.Asp305Gly) c.779A>G (p.Asp260Gly) | |
17 | g.77482246A>T | CA401207880 | SEPTIN9 | c.770A>T (p.Asp257Val) c.824A>T (p.Asp275Val) c.332A>T (p.Asp111Val) n.128A>T n.873A>T c.71A>T (p.Asp24Val) c.803A>T (p.Asp268Val) c.488A>T (p.Asp163Val) c.152A>T (p.Asp51Val) c.196-5236A>T (n.196-5236A>T) c.275A>T (p.Asp92Val) c.767A>T (p.Asp256Val) c.251A>T (p.Asp84Val) n.388A>T c.917A>T (p.Asp306Val) c.914A>T (p.Asp305Val) c.779A>T (p.Asp260Val) | |
17 | g.77482247C>A | CA401207881 | SEPTIN9 | c.771C>A (p.Asp257Glu) c.825C>A (p.Asp275Glu) c.333C>A (p.Asp111Glu) n.129C>A n.874C>A c.72C>A (p.Asp24Glu) c.804C>A (p.Asp268Glu) c.489C>A (p.Asp163Glu) c.153C>A (p.Asp51Glu) c.196-5235C>A (n.196-5235C>A) c.276C>A (p.Asp92Glu) c.768C>A (p.Asp256Glu) c.252C>A (p.Asp84Glu) n.389C>A c.918C>A (p.Asp306Glu) c.915C>A (p.Asp305Glu) c.780C>A (p.Asp260Glu) | |
17 | g.77482247C>G | CA401207882 | SEPTIN9 | c.771C>G (p.Asp257Glu) c.825C>G (p.Asp275Glu) c.333C>G (p.Asp111Glu) n.129C>G n.874C>G c.72C>G (p.Asp24Glu) c.804C>G (p.Asp268Glu) c.489C>G (p.Asp163Glu) c.153C>G (p.Asp51Glu) c.196-5235C>G (n.196-5235C>G) c.276C>G (p.Asp92Glu) c.768C>G (p.Asp256Glu) c.252C>G (p.Asp84Glu) n.389C>G c.918C>G (p.Asp306Glu) c.915C>G (p.Asp305Glu) c.780C>G (p.Asp260Glu) | |
17 | g.77482247C>T | CA501952104 | SEPTIN9 | c.771C>T (p.Asp257=) c.825C>T (p.Asp275=) c.333C>T (p.Asp111=) n.129C>T n.874C>T c.72C>T (p.Asp24=) c.804C>T (p.Asp268=) c.489C>T (p.Asp163=) c.153C>T (p.Asp51=) c.196-5235C>T (n.196-5235C>T) c.276C>T (p.Asp92=) c.768C>T (p.Asp256=) c.252C>T (p.Asp84=) n.389C>T c.918C>T (p.Asp306=) c.915C>T (p.Asp305=) c.780C>T (p.Asp260=) | gnomAD v4 |
17 | g.77482248T>A | CA401207883 | SEPTIN9 | c.772T>A (p.Phe258Ile) c.826T>A (p.Phe276Ile) c.334T>A (p.Phe112Ile) n.130T>A n.875T>A c.73T>A (p.Phe25Ile) c.805T>A (p.Phe269Ile) c.490T>A (p.Phe164Ile) c.154T>A (p.Phe52Ile) c.196-5234T>A (n.196-5234T>A) c.277T>A (p.Phe93Ile) c.769T>A (p.Phe257Ile) c.253T>A (p.Phe85Ile) n.390T>A c.919T>A (p.Phe307Ile) c.916T>A (p.Phe306Ile) c.781T>A (p.Phe261Ile) | |
17 | g.77482248T>C | CA401207885 | SEPTIN9 | c.772T>C (p.Phe258Leu) c.826T>C (p.Phe276Leu) c.334T>C (p.Phe112Leu) n.130T>C n.875T>C c.73T>C (p.Phe25Leu) c.805T>C (p.Phe269Leu) c.490T>C (p.Phe164Leu) c.154T>C (p.Phe52Leu) c.196-5234T>C (n.196-5234T>C) c.277T>C (p.Phe93Leu) c.769T>C (p.Phe257Leu) c.253T>C (p.Phe85Leu) n.390T>C c.919T>C (p.Phe307Leu) c.916T>C (p.Phe306Leu) c.781T>C (p.Phe261Leu) | |
17 | g.77482248T>G | CA401207884 | SEPTIN9 | c.772T>G (p.Phe258Val) c.826T>G (p.Phe276Val) c.334T>G (p.Phe112Val) n.130T>G n.875T>G c.73T>G (p.Phe25Val) c.805T>G (p.Phe269Val) c.490T>G (p.Phe164Val) c.154T>G (p.Phe52Val) c.196-5234T>G (n.196-5234T>G) c.277T>G (p.Phe93Val) c.769T>G (p.Phe257Val) c.253T>G (p.Phe85Val) n.390T>G c.919T>G (p.Phe307Val) c.916T>G (p.Phe306Val) c.781T>G (p.Phe261Val) | |
17 | g.77482249T>A | CA401207886 | SEPTIN9 | c.773T>A (p.Phe258Tyr) c.827T>A (p.Phe276Tyr) c.335T>A (p.Phe112Tyr) n.131T>A n.876T>A c.74T>A (p.Phe25Tyr) c.806T>A (p.Phe269Tyr) c.491T>A (p.Phe164Tyr) c.155T>A (p.Phe52Tyr) c.196-5233T>A (n.196-5233T>A) c.278T>A (p.Phe93Tyr) c.770T>A (p.Phe257Tyr) c.254T>A (p.Phe85Tyr) n.391T>A c.920T>A (p.Phe307Tyr) c.917T>A (p.Phe306Tyr) c.782T>A (p.Phe261Tyr) | |
17 | g.77482249T>C | CA401207887 | SEPTIN9 | c.773T>C (p.Phe258Ser) c.827T>C (p.Phe276Ser) c.335T>C (p.Phe112Ser) n.131T>C n.876T>C c.74T>C (p.Phe25Ser) c.806T>C (p.Phe269Ser) c.491T>C (p.Phe164Ser) c.155T>C (p.Phe52Ser) c.196-5233T>C (n.196-5233T>C) c.278T>C (p.Phe93Ser) c.770T>C (p.Phe257Ser) c.254T>C (p.Phe85Ser) n.391T>C c.920T>C (p.Phe307Ser) c.917T>C (p.Phe306Ser) c.782T>C (p.Phe261Ser) | |
17 | g.77482249T>G | CA401207888 | SEPTIN9 | c.773T>G (p.Phe258Cys) c.827T>G (p.Phe276Cys) c.335T>G (p.Phe112Cys) n.131T>G n.876T>G c.74T>G (p.Phe25Cys) c.806T>G (p.Phe269Cys) c.491T>G (p.Phe164Cys) c.155T>G (p.Phe52Cys) c.196-5233T>G (n.196-5233T>G) c.278T>G (p.Phe93Cys) c.770T>G (p.Phe257Cys) c.254T>G (p.Phe85Cys) n.391T>G c.920T>G (p.Phe307Cys) c.917T>G (p.Phe306Cys) c.782T>G (p.Phe261Cys) | |
17 | g.77482250C>A | CA401207889 | SEPTIN9 | c.774C>A (p.Phe258Leu) c.828C>A (p.Phe276Leu) c.336C>A (p.Phe112Leu) n.132C>A n.877C>A c.75C>A (p.Phe25Leu) c.807C>A (p.Phe269Leu) c.492C>A (p.Phe164Leu) c.156C>A (p.Phe52Leu) c.196-5232C>A (n.196-5232C>A) c.279C>A (p.Phe93Leu) c.771C>A (p.Phe257Leu) c.255C>A (p.Phe85Leu) n.392C>A c.921C>A (p.Phe307Leu) c.918C>A (p.Phe306Leu) c.783C>A (p.Phe261Leu) | |
17 | g.77482250C= | CA2276500434 | SEPTIN9 | c.774C= (p.Phe258=) c.828C= (p.Phe276=) c.336C= (p.Phe112=) n.132C= n.877C= c.75C= (p.Phe25=) c.807C= (p.Phe269=) c.492C= (p.Phe164=) c.156C= (p.Phe52=) c.196-5232C= (n.196-5232C=) c.279C= (p.Phe93=) c.771C= (p.Phe257=) c.255C= (p.Phe85=) n.392C= c.921C= (p.Phe307=) c.918C= (p.Phe306=) c.783C= (p.Phe261=) | |
17 | g.77482250C>G | CA401207890 | SEPTIN9 | c.774C>G (p.Phe258Leu) c.828C>G (p.Phe276Leu) c.336C>G (p.Phe112Leu) n.132C>G n.877C>G c.75C>G (p.Phe25Leu) c.807C>G (p.Phe269Leu) c.492C>G (p.Phe164Leu) c.156C>G (p.Phe52Leu) c.196-5232C>G (n.196-5232C>G) c.279C>G (p.Phe93Leu) c.771C>G (p.Phe257Leu) c.255C>G (p.Phe85Leu) n.392C>G c.921C>G (p.Phe307Leu) c.918C>G (p.Phe306Leu) c.783C>G (p.Phe261Leu) | |
17 | g.77482250C>T | CA8793534 | SEPTIN9 | c.774C>T (p.Phe258=) c.828C>T (p.Phe276=) c.336C>T (p.Phe112=) n.132C>T n.877C>T c.75C>T (p.Phe25=) c.807C>T (p.Phe269=) c.492C>T (p.Phe164=) c.156C>T (p.Phe52=) c.196-5232C>T (n.196-5232C>T) c.279C>T (p.Phe93=) c.771C>T (p.Phe257=) c.255C>T (p.Phe85=) n.392C>T c.921C>T (p.Phe307=) c.918C>T (p.Phe306=) c.783C>T (p.Phe261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482251G>A | CA8793535 | SEPTIN9 | c.775G>A (p.Gly259Ser) c.829G>A (p.Gly277Ser) c.337G>A (p.Gly113Ser) n.133G>A n.878G>A c.76G>A (p.Gly26Ser) c.808G>A (p.Gly270Ser) c.493G>A (p.Gly165Ser) c.157G>A (p.Gly53Ser) c.196-5231G>A (n.196-5231G>A) c.280G>A (p.Gly94Ser) c.772G>A (p.Gly258Ser) c.256G>A (p.Gly86Ser) n.393G>A c.922G>A (p.Gly308Ser) c.919G>A (p.Gly307Ser) c.784G>A (p.Gly262Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482251G>C | CA401207891 | SEPTIN9 | c.775G>C (p.Gly259Arg) c.829G>C (p.Gly277Arg) c.337G>C (p.Gly113Arg) n.133G>C n.878G>C c.76G>C (p.Gly26Arg) c.808G>C (p.Gly270Arg) c.493G>C (p.Gly165Arg) c.157G>C (p.Gly53Arg) c.196-5231G>C (n.196-5231G>C) c.280G>C (p.Gly94Arg) c.772G>C (p.Gly258Arg) c.256G>C (p.Gly86Arg) n.393G>C c.922G>C (p.Gly308Arg) c.919G>C (p.Gly307Arg) c.784G>C (p.Gly262Arg) | |
17 | g.77482251G= | CA2276500435 | SEPTIN9 | c.775G= (p.Gly259=) c.829G= (p.Gly277=) c.337G= (p.Gly113=) n.133G= n.878G= c.76G= (p.Gly26=) c.808G= (p.Gly270=) c.493G= (p.Gly165=) c.157G= (p.Gly53=) c.196-5231G= (n.196-5231G=) c.280G= (p.Gly94=) c.772G= (p.Gly258=) c.256G= (p.Gly86=) n.393G= c.922G= (p.Gly308=) c.919G= (p.Gly307=) c.784G= (p.Gly262=) | |
17 | g.77482251G>T | CA401207892 | SEPTIN9 | c.775G>T (p.Gly259Cys) c.829G>T (p.Gly277Cys) c.337G>T (p.Gly113Cys) n.133G>T n.878G>T c.76G>T (p.Gly26Cys) c.808G>T (p.Gly270Cys) c.493G>T (p.Gly165Cys) c.157G>T (p.Gly53Cys) c.196-5231G>T (n.196-5231G>T) c.280G>T (p.Gly94Cys) c.772G>T (p.Gly258Cys) c.256G>T (p.Gly86Cys) n.393G>T c.922G>T (p.Gly308Cys) c.919G>T (p.Gly307Cys) c.784G>T (p.Gly262Cys) | |
17 | g.77482252G>A | CA401207893 | SEPTIN9 | c.776G>A (p.Gly259Asp) c.830G>A (p.Gly277Asp) c.338G>A (p.Gly113Asp) n.134G>A n.879G>A c.77G>A (p.Gly26Asp) c.809G>A (p.Gly270Asp) c.494G>A (p.Gly165Asp) c.158G>A (p.Gly53Asp) c.196-5230G>A (n.196-5230G>A) c.281G>A (p.Gly94Asp) c.773G>A (p.Gly258Asp) c.257G>A (p.Gly86Asp) n.394G>A c.923G>A (p.Gly308Asp) c.920G>A (p.Gly307Asp) c.785G>A (p.Gly262Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482252G>C | CA401207894 | SEPTIN9 | c.776G>C (p.Gly259Ala) c.830G>C (p.Gly277Ala) c.338G>C (p.Gly113Ala) n.134G>C n.879G>C c.77G>C (p.Gly26Ala) c.809G>C (p.Gly270Ala) c.494G>C (p.Gly165Ala) c.158G>C (p.Gly53Ala) c.196-5230G>C (n.196-5230G>C) c.281G>C (p.Gly94Ala) c.773G>C (p.Gly258Ala) c.257G>C (p.Gly86Ala) n.394G>C c.923G>C (p.Gly308Ala) c.920G>C (p.Gly307Ala) c.785G>C (p.Gly262Ala) | gnomAD v4 |
17 | g.77482252G>T | CA401207895 | SEPTIN9 | c.776G>T (p.Gly259Val) c.830G>T (p.Gly277Val) c.338G>T (p.Gly113Val) n.134G>T n.879G>T c.77G>T (p.Gly26Val) c.809G>T (p.Gly270Val) c.494G>T (p.Gly165Val) c.158G>T (p.Gly53Val) c.196-5230G>T (n.196-5230G>T) c.281G>T (p.Gly94Val) c.773G>T (p.Gly258Val) c.257G>T (p.Gly86Val) n.394G>T c.923G>T (p.Gly308Val) c.920G>T (p.Gly307Val) c.785G>T (p.Gly262Val) | |
17 | g.77482253C>A | CA501952108 | SEPTIN9 | c.777C>A (p.Gly259=) c.831C>A (p.Gly277=) c.339C>A (p.Gly113=) n.135C>A n.880C>A c.78C>A (p.Gly26=) c.810C>A (p.Gly270=) c.495C>A (p.Gly165=) c.159C>A (p.Gly53=) c.196-5229C>A (n.196-5229C>A) c.282C>A (p.Gly94=) c.774C>A (p.Gly258=) c.258C>A (p.Gly86=) n.395C>A c.924C>A (p.Gly308=) c.921C>A (p.Gly307=) c.786C>A (p.Gly262=) | |
17 | g.77482253C= | CA2276500436 | SEPTIN9 | c.777C= (p.Gly259=) c.831C= (p.Gly277=) c.339C= (p.Gly113=) n.135C= n.880C= c.78C= (p.Gly26=) c.810C= (p.Gly270=) c.495C= (p.Gly165=) c.159C= (p.Gly53=) c.196-5229C= (n.196-5229C=) c.282C= (p.Gly94=) c.774C= (p.Gly258=) c.258C= (p.Gly86=) n.395C= c.924C= (p.Gly308=) c.921C= (p.Gly307=) c.786C= (p.Gly262=) | |
17 | g.77482253C>G | CA501952109 | SEPTIN9 | c.777C>G (p.Gly259=) c.831C>G (p.Gly277=) c.339C>G (p.Gly113=) n.135C>G n.880C>G c.78C>G (p.Gly26=) c.810C>G (p.Gly270=) c.495C>G (p.Gly165=) c.159C>G (p.Gly53=) c.196-5229C>G (n.196-5229C>G) c.282C>G (p.Gly94=) c.774C>G (p.Gly258=) c.258C>G (p.Gly86=) n.395C>G c.924C>G (p.Gly308=) c.921C>G (p.Gly307=) c.786C>G (p.Gly262=) | |
17 | g.77482253C>T | CA501952110 | SEPTIN9 | c.777C>T (p.Gly259=) c.831C>T (p.Gly277=) c.339C>T (p.Gly113=) n.135C>T n.880C>T c.78C>T (p.Gly26=) c.810C>T (p.Gly270=) c.495C>T (p.Gly165=) c.159C>T (p.Gly53=) c.196-5229C>T (n.196-5229C>T) c.282C>T (p.Gly94=) c.774C>T (p.Gly258=) c.258C>T (p.Gly86=) n.395C>T c.924C>T (p.Gly308=) c.921C>T (p.Gly307=) c.786C>T (p.Gly262=) | dbSNP |
17 | g.77482254T>A | CA401207898 | SEPTIN9 | c.778T>A (p.Tyr260Asn) c.832T>A (p.Tyr278Asn) c.340T>A (p.Tyr114Asn) n.136T>A n.881T>A c.79T>A (p.Tyr27Asn) c.811T>A (p.Tyr271Asn) c.496T>A (p.Tyr166Asn) c.160T>A (p.Tyr54Asn) c.196-5228T>A (n.196-5228T>A) c.283T>A (p.Tyr95Asn) c.775T>A (p.Tyr259Asn) c.259T>A (p.Tyr87Asn) n.396T>A c.925T>A (p.Tyr309Asn) c.922T>A (p.Tyr308Asn) c.787T>A (p.Tyr263Asn) | |
17 | g.77482254T>C | CA401207896 | SEPTIN9 | c.778T>C (p.Tyr260His) c.832T>C (p.Tyr278His) c.340T>C (p.Tyr114His) n.136T>C n.881T>C c.79T>C (p.Tyr27His) c.811T>C (p.Tyr271His) c.496T>C (p.Tyr166His) c.160T>C (p.Tyr54His) c.196-5228T>C (n.196-5228T>C) c.283T>C (p.Tyr95His) c.775T>C (p.Tyr259His) c.259T>C (p.Tyr87His) n.396T>C c.925T>C (p.Tyr309His) c.922T>C (p.Tyr308His) c.787T>C (p.Tyr263His) | gnomAD v4 |
17 | g.77482254T>G | CA401207897 | SEPTIN9 | c.778T>G (p.Tyr260Asp) c.832T>G (p.Tyr278Asp) c.340T>G (p.Tyr114Asp) n.136T>G n.881T>G c.79T>G (p.Tyr27Asp) c.811T>G (p.Tyr271Asp) c.496T>G (p.Tyr166Asp) c.160T>G (p.Tyr54Asp) c.196-5228T>G (n.196-5228T>G) c.283T>G (p.Tyr95Asp) c.775T>G (p.Tyr259Asp) c.259T>G (p.Tyr87Asp) n.396T>G c.925T>G (p.Tyr309Asp) c.922T>G (p.Tyr308Asp) c.787T>G (p.Tyr263Asp) | |
17 | g.77482255A>C | CA401207899 | SEPTIN9 | c.779A>C (p.Tyr260Ser) c.833A>C (p.Tyr278Ser) c.341A>C (p.Tyr114Ser) n.137A>C n.882A>C c.80A>C (p.Tyr27Ser) c.812A>C (p.Tyr271Ser) c.497A>C (p.Tyr166Ser) c.161A>C (p.Tyr54Ser) c.196-5227A>C (n.196-5227A>C) c.284A>C (p.Tyr95Ser) c.776A>C (p.Tyr259Ser) c.260A>C (p.Tyr87Ser) n.397A>C c.926A>C (p.Tyr309Ser) c.923A>C (p.Tyr308Ser) c.788A>C (p.Tyr263Ser) | |
17 | g.77482255A>G | CA401207900 | SEPTIN9 | c.779A>G (p.Tyr260Cys) c.833A>G (p.Tyr278Cys) c.341A>G (p.Tyr114Cys) n.137A>G n.882A>G c.80A>G (p.Tyr27Cys) c.812A>G (p.Tyr271Cys) c.497A>G (p.Tyr166Cys) c.161A>G (p.Tyr54Cys) c.196-5227A>G (n.196-5227A>G) c.284A>G (p.Tyr95Cys) c.776A>G (p.Tyr259Cys) c.260A>G (p.Tyr87Cys) n.397A>G c.926A>G (p.Tyr309Cys) c.923A>G (p.Tyr308Cys) c.788A>G (p.Tyr263Cys) | |
17 | g.77482255A>T | CA401207901 | SEPTIN9 | c.779A>T (p.Tyr260Phe) c.833A>T (p.Tyr278Phe) c.341A>T (p.Tyr114Phe) n.137A>T n.882A>T c.80A>T (p.Tyr27Phe) c.812A>T (p.Tyr271Phe) c.497A>T (p.Tyr166Phe) c.161A>T (p.Tyr54Phe) c.196-5227A>T (n.196-5227A>T) c.284A>T (p.Tyr95Phe) c.776A>T (p.Tyr259Phe) c.260A>T (p.Tyr87Phe) n.397A>T c.926A>T (p.Tyr309Phe) c.923A>T (p.Tyr308Phe) c.788A>T (p.Tyr263Phe) | |
17 | g.77482256C>A | CA401207902 | SEPTIN9 | c.780C>A (p.Tyr260Ter) c.834C>A (p.Tyr278Ter) c.342C>A (p.Tyr114Ter) n.138C>A n.883C>A c.81C>A (p.Tyr27Ter) c.813C>A (p.Tyr271Ter) c.498C>A (p.Tyr166Ter) c.162C>A (p.Tyr54Ter) c.196-5226C>A (n.196-5226C>A) c.285C>A (p.Tyr95Ter) c.777C>A (p.Tyr259Ter) c.261C>A (p.Tyr87Ter) n.398C>A c.927C>A (p.Tyr309Ter) c.924C>A (p.Tyr308Ter) c.789C>A (p.Tyr263Ter) | |
17 | g.77482256C= | CA2276500437 | SEPTIN9 | c.780C= (p.Tyr260=) c.834C= (p.Tyr278=) c.342C= (p.Tyr114=) n.138C= n.883C= c.81C= (p.Tyr27=) c.813C= (p.Tyr271=) c.498C= (p.Tyr166=) c.162C= (p.Tyr54=) c.196-5226C= (n.196-5226C=) c.285C= (p.Tyr95=) c.777C= (p.Tyr259=) c.261C= (p.Tyr87=) n.398C= c.927C= (p.Tyr309=) c.924C= (p.Tyr308=) c.789C= (p.Tyr263=) | |
17 | g.77482256C>G | CA8793536 | SEPTIN9 | c.780C>G (p.Tyr260Ter) c.834C>G (p.Tyr278Ter) c.342C>G (p.Tyr114Ter) n.138C>G n.883C>G c.81C>G (p.Tyr27Ter) c.813C>G (p.Tyr271Ter) c.498C>G (p.Tyr166Ter) c.162C>G (p.Tyr54Ter) c.196-5226C>G (n.196-5226C>G) c.285C>G (p.Tyr95Ter) c.777C>G (p.Tyr259Ter) c.261C>G (p.Tyr87Ter) n.398C>G c.927C>G (p.Tyr309Ter) c.924C>G (p.Tyr308Ter) c.789C>G (p.Tyr263Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.77482256C>T | CA8793537 | SEPTIN9 | c.780C>T (p.Tyr260=) c.834C>T (p.Tyr278=) c.342C>T (p.Tyr114=) n.138C>T n.883C>T c.81C>T (p.Tyr27=) c.813C>T (p.Tyr271=) c.498C>T (p.Tyr166=) c.162C>T (p.Tyr54=) c.196-5226C>T (n.196-5226C>T) c.285C>T (p.Tyr95=) c.777C>T (p.Tyr259=) c.261C>T (p.Tyr87=) n.398C>T c.927C>T (p.Tyr309=) c.924C>T (p.Tyr308=) c.789C>T (p.Tyr263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482257G>A | CA8793538 | SEPTIN9 | c.781G>A (p.Val261Met) c.835G>A (p.Val279Met) c.343G>A (p.Val115Met) n.139G>A n.884G>A c.82G>A (p.Val28Met) c.814G>A (p.Val272Met) c.499G>A (p.Val167Met) c.163G>A (p.Val55Met) c.196-5225G>A (n.196-5225G>A) c.286G>A (p.Val96Met) c.778G>A (p.Val260Met) c.262G>A (p.Val88Met) n.399G>A c.928G>A (p.Val310Met) c.925G>A (p.Val309Met) c.790G>A (p.Val264Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482257G>C | CA401207903 | SEPTIN9 | c.781G>C (p.Val261Leu) c.835G>C (p.Val279Leu) c.343G>C (p.Val115Leu) n.139G>C n.884G>C c.82G>C (p.Val28Leu) c.814G>C (p.Val272Leu) c.499G>C (p.Val167Leu) c.163G>C (p.Val55Leu) c.196-5225G>C (n.196-5225G>C) c.286G>C (p.Val96Leu) c.778G>C (p.Val260Leu) c.262G>C (p.Val88Leu) n.399G>C c.928G>C (p.Val310Leu) c.925G>C (p.Val309Leu) c.790G>C (p.Val264Leu) | |
17 | g.77482257G= | CA2276500438 | SEPTIN9 | c.781G= (p.Val261=) c.835G= (p.Val279=) c.343G= (p.Val115=) n.139G= n.884G= c.82G= (p.Val28=) c.814G= (p.Val272=) c.499G= (p.Val167=) c.163G= (p.Val55=) c.196-5225G= (n.196-5225G=) c.286G= (p.Val96=) c.778G= (p.Val260=) c.262G= (p.Val88=) n.399G= c.928G= (p.Val310=) c.925G= (p.Val309=) c.790G= (p.Val264=) | |
17 | g.77482257G>T | CA401207904 | SEPTIN9 | c.781G>T (p.Val261Leu) c.835G>T (p.Val279Leu) c.343G>T (p.Val115Leu) n.139G>T n.884G>T c.82G>T (p.Val28Leu) c.814G>T (p.Val272Leu) c.499G>T (p.Val167Leu) c.163G>T (p.Val55Leu) c.196-5225G>T (n.196-5225G>T) c.286G>T (p.Val96Leu) c.778G>T (p.Val260Leu) c.262G>T (p.Val88Leu) n.399G>T c.928G>T (p.Val310Leu) c.925G>T (p.Val309Leu) c.790G>T (p.Val264Leu) | gnomAD v4 |
17 | g.77482258T>A | CA401207905 | SEPTIN9 | c.782T>A (p.Val261Glu) c.836T>A (p.Val279Glu) c.344T>A (p.Val115Glu) n.140T>A n.885T>A c.83T>A (p.Val28Glu) c.815T>A (p.Val272Glu) c.500T>A (p.Val167Glu) c.164T>A (p.Val55Glu) c.196-5224T>A (n.196-5224T>A) c.287T>A (p.Val96Glu) c.779T>A (p.Val260Glu) c.263T>A (p.Val88Glu) n.400T>A c.929T>A (p.Val310Glu) c.926T>A (p.Val309Glu) c.791T>A (p.Val264Glu) | |
17 | g.77482258T>C | CA401207906 | SEPTIN9 | c.782T>C (p.Val261Ala) c.836T>C (p.Val279Ala) c.344T>C (p.Val115Ala) n.140T>C n.885T>C c.83T>C (p.Val28Ala) c.815T>C (p.Val272Ala) c.500T>C (p.Val167Ala) c.164T>C (p.Val55Ala) c.196-5224T>C (n.196-5224T>C) c.287T>C (p.Val96Ala) c.779T>C (p.Val260Ala) c.263T>C (p.Val88Ala) n.400T>C c.929T>C (p.Val310Ala) c.926T>C (p.Val309Ala) c.791T>C (p.Val264Ala) | |
17 | g.77482258T>G | CA401207907 | SEPTIN9 | c.782T>G (p.Val261Gly) c.836T>G (p.Val279Gly) c.344T>G (p.Val115Gly) n.140T>G n.885T>G c.83T>G (p.Val28Gly) c.815T>G (p.Val272Gly) c.500T>G (p.Val167Gly) c.164T>G (p.Val55Gly) c.196-5224T>G (n.196-5224T>G) c.287T>G (p.Val96Gly) c.779T>G (p.Val260Gly) c.263T>G (p.Val88Gly) n.400T>G c.929T>G (p.Val310Gly) c.926T>G (p.Val309Gly) c.791T>G (p.Val264Gly) | |
17 | g.77482259G>A | CA501952114 | SEPTIN9 | c.783G>A (p.Val261=) c.837G>A (p.Val279=) c.345G>A (p.Val115=) n.141G>A n.886G>A c.84G>A (p.Val28=) c.816G>A (p.Val272=) c.501G>A (p.Val167=) c.165G>A (p.Val55=) c.196-5223G>A (n.196-5223G>A) c.288G>A (p.Val96=) c.780G>A (p.Val260=) c.264G>A (p.Val88=) n.401G>A c.930G>A (p.Val310=) c.927G>A (p.Val309=) c.792G>A (p.Val264=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.77482259G>C | CA501952115 | SEPTIN9 | c.783G>C (p.Val261=) c.837G>C (p.Val279=) c.345G>C (p.Val115=) n.141G>C n.886G>C c.84G>C (p.Val28=) c.816G>C (p.Val272=) c.501G>C (p.Val167=) c.165G>C (p.Val55=) c.196-5223G>C (n.196-5223G>C) c.288G>C (p.Val96=) c.780G>C (p.Val260=) c.264G>C (p.Val88=) n.401G>C c.930G>C (p.Val310=) c.927G>C (p.Val309=) c.792G>C (p.Val264=) | |
17 | g.77482259G= | CA2276500439 | SEPTIN9 | c.783G= (p.Val261=) c.837G= (p.Val279=) c.345G= (p.Val115=) n.141G= n.886G= c.84G= (p.Val28=) c.816G= (p.Val272=) c.501G= (p.Val167=) c.165G= (p.Val55=) c.196-5223G= (n.196-5223G=) c.288G= (p.Val96=) c.780G= (p.Val260=) c.264G= (p.Val88=) n.401G= c.930G= (p.Val310=) c.927G= (p.Val309=) c.792G= (p.Val264=) | |
17 | g.77482259G>T | CA501952116 | SEPTIN9 | c.783G>T (p.Val261=) c.837G>T (p.Val279=) c.345G>T (p.Val115=) n.141G>T n.886G>T c.84G>T (p.Val28=) c.816G>T (p.Val272=) c.501G>T (p.Val167=) c.165G>T (p.Val55=) c.196-5223G>T (n.196-5223G>T) c.288G>T (p.Val96=) c.780G>T (p.Val260=) c.264G>T (p.Val88=) n.401G>T c.930G>T (p.Val310=) c.927G>T (p.Val309=) c.792G>T (p.Val264=) | |
17 | g.77482260G>A | CA401207909 | SEPTIN9 | c.784G>A (p.Gly262Arg) c.838G>A (p.Gly280Arg) c.346G>A (p.Gly116Arg) n.142G>A n.887G>A c.85G>A (p.Gly29Arg) c.817G>A (p.Gly273Arg) c.502G>A (p.Gly168Arg) c.166G>A (p.Gly56Arg) c.196-5222G>A (n.196-5222G>A) c.289G>A (p.Gly97Arg) c.781G>A (p.Gly261Arg) c.265G>A (p.Gly89Arg) n.402G>A c.931G>A (p.Gly311Arg) c.928G>A (p.Gly310Arg) c.793G>A (p.Gly265Arg) | |
17 | g.77482260G>C | CA401207910 | SEPTIN9 | c.784G>C (p.Gly262Arg) c.838G>C (p.Gly280Arg) c.346G>C (p.Gly116Arg) n.142G>C n.887G>C c.85G>C (p.Gly29Arg) c.817G>C (p.Gly273Arg) c.502G>C (p.Gly168Arg) c.166G>C (p.Gly56Arg) c.196-5222G>C (n.196-5222G>C) c.289G>C (p.Gly97Arg) c.781G>C (p.Gly261Arg) c.265G>C (p.Gly89Arg) n.402G>C c.931G>C (p.Gly311Arg) c.928G>C (p.Gly310Arg) c.793G>C (p.Gly265Arg) | |
17 | g.77482260G>T | CA401207908 | SEPTIN9 | c.784G>T (p.Gly262Trp) c.838G>T (p.Gly280Trp) c.346G>T (p.Gly116Trp) n.142G>T n.887G>T c.85G>T (p.Gly29Trp) c.817G>T (p.Gly273Trp) c.502G>T (p.Gly168Trp) c.166G>T (p.Gly56Trp) c.196-5222G>T (n.196-5222G>T) c.289G>T (p.Gly97Trp) c.781G>T (p.Gly261Trp) c.265G>T (p.Gly89Trp) n.402G>T c.931G>T (p.Gly311Trp) c.928G>T (p.Gly310Trp) c.793G>T (p.Gly265Trp) | |
17 | g.77482261G>A | CA401207913 | SEPTIN9 | c.785G>A (p.Gly262Glu) c.839G>A (p.Gly280Glu) c.347G>A (p.Gly116Glu) n.143G>A n.888G>A c.86G>A (p.Gly29Glu) c.818G>A (p.Gly273Glu) c.503G>A (p.Gly168Glu) c.167G>A (p.Gly56Glu) c.196-5221G>A (n.196-5221G>A) c.290G>A (p.Gly97Glu) c.782G>A (p.Gly261Glu) c.266G>A (p.Gly89Glu) n.403G>A c.932G>A (p.Gly311Glu) c.929G>A (p.Gly310Glu) c.794G>A (p.Gly265Glu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.77482261G>C | CA401207911 | SEPTIN9 | c.785G>C (p.Gly262Ala) c.839G>C (p.Gly280Ala) c.347G>C (p.Gly116Ala) n.143G>C n.888G>C c.86G>C (p.Gly29Ala) c.818G>C (p.Gly273Ala) c.503G>C (p.Gly168Ala) c.167G>C (p.Gly56Ala) c.196-5221G>C (n.196-5221G>C) c.290G>C (p.Gly97Ala) c.782G>C (p.Gly261Ala) c.266G>C (p.Gly89Ala) n.403G>C c.932G>C (p.Gly311Ala) c.929G>C (p.Gly310Ala) c.794G>C (p.Gly265Ala) | |
17 | g.77482261G= | CA2276500440 | SEPTIN9 | c.785G= (p.Gly262=) c.839G= (p.Gly280=) c.347G= (p.Gly116=) n.143G= n.888G= c.86G= (p.Gly29=) c.818G= (p.Gly273=) c.503G= (p.Gly168=) c.167G= (p.Gly56=) c.196-5221G= (n.196-5221G=) c.290G= (p.Gly97=) c.782G= (p.Gly261=) c.266G= (p.Gly89=) n.403G= c.932G= (p.Gly311=) c.929G= (p.Gly310=) c.794G= (p.Gly265=) | |
17 | g.77482261G>T | CA401207912 | SEPTIN9 | c.785G>T (p.Gly262Val) c.839G>T (p.Gly280Val) c.347G>T (p.Gly116Val) n.143G>T n.888G>T c.86G>T (p.Gly29Val) c.818G>T (p.Gly273Val) c.503G>T (p.Gly168Val) c.167G>T (p.Gly56Val) c.196-5221G>T (n.196-5221G>T) c.290G>T (p.Gly97Val) c.782G>T (p.Gly261Val) c.266G>T (p.Gly89Val) n.403G>T c.932G>T (p.Gly311Val) c.929G>T (p.Gly310Val) c.794G>T (p.Gly265Val) | |
17 | g.77482262G>A | CA501952119 | SEPTIN9 | c.786G>A (p.Gly262=) c.840G>A (p.Gly280=) c.348G>A (p.Gly116=) n.144G>A n.889G>A c.87G>A (p.Gly29=) c.819G>A (p.Gly273=) c.504G>A (p.Gly168=) c.168G>A (p.Gly56=) c.196-5220G>A (n.196-5220G>A) c.291G>A (p.Gly97=) c.783G>A (p.Gly261=) c.267G>A (p.Gly89=) n.404G>A c.933G>A (p.Gly311=) c.930G>A (p.Gly310=) c.795G>A (p.Gly265=) | gnomAD v4 |
17 | g.77482262G>C | CA294293851 | SEPTIN9 | c.786G>C (p.Gly262=) c.840G>C (p.Gly280=) c.348G>C (p.Gly116=) n.144G>C n.889G>C c.87G>C (p.Gly29=) c.819G>C (p.Gly273=) c.504G>C (p.Gly168=) c.168G>C (p.Gly56=) c.196-5220G>C (n.196-5220G>C) c.291G>C (p.Gly97=) c.783G>C (p.Gly261=) c.267G>C (p.Gly89=) n.404G>C c.933G>C (p.Gly311=) c.930G>C (p.Gly310=) c.795G>C (p.Gly265=) | dbSNP gnomAD v2 |
17 | g.77482262G= | CA2276500441 | SEPTIN9 | c.786G= (p.Gly262=) c.840G= (p.Gly280=) c.348G= (p.Gly116=) n.144G= n.889G= c.87G= (p.Gly29=) c.819G= (p.Gly273=) c.504G= (p.Gly168=) c.168G= (p.Gly56=) c.196-5220G= (n.196-5220G=) c.291G= (p.Gly97=) c.783G= (p.Gly261=) c.267G= (p.Gly89=) n.404G= c.933G= (p.Gly311=) c.930G= (p.Gly310=) c.795G= (p.Gly265=) | |
17 | g.77482262G>T | CA501952120 | SEPTIN9 | c.786G>T (p.Gly262=) c.840G>T (p.Gly280=) c.348G>T (p.Gly116=) n.144G>T n.889G>T c.87G>T (p.Gly29=) c.819G>T (p.Gly273=) c.504G>T (p.Gly168=) c.168G>T (p.Gly56=) c.196-5220G>T (n.196-5220G>T) c.291G>T (p.Gly97=) c.783G>T (p.Gly261=) c.267G>T (p.Gly89=) n.404G>T c.933G>T (p.Gly311=) c.930G>T (p.Gly310=) c.795G>T (p.Gly265=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.77482263A= | CA2276500442 | SEPTIN9 | c.787A= (p.Ile263=) c.841A= (p.Ile281=) c.349A= (p.Ile117=) n.145A= n.890A= c.88A= (p.Ile30=) c.820A= (p.Ile274=) c.505A= (p.Ile169=) c.169A= (p.Ile57=) c.196-5219A= (n.196-5219A=) c.292A= (p.Ile98=) c.784A= (p.Ile262=) c.268A= (p.Ile90=) n.405A= c.934A= (p.Ile312=) c.931A= (p.Ile311=) c.796A= (p.Ile266=) | |
17 | g.77482263A>C | CA401207914 | SEPTIN9 | c.787A>C (p.Ile263Leu) c.841A>C (p.Ile281Leu) c.349A>C (p.Ile117Leu) n.145A>C n.890A>C c.88A>C (p.Ile30Leu) c.820A>C (p.Ile274Leu) c.505A>C (p.Ile169Leu) c.169A>C (p.Ile57Leu) c.196-5219A>C (n.196-5219A>C) c.292A>C (p.Ile98Leu) c.784A>C (p.Ile262Leu) c.268A>C (p.Ile90Leu) n.405A>C c.934A>C (p.Ile312Leu) c.931A>C (p.Ile311Leu) c.796A>C (p.Ile266Leu) | |
17 | g.77482263A>G | CA401207915 | SEPTIN9 | c.787A>G (p.Ile263Val) c.841A>G (p.Ile281Val) c.349A>G (p.Ile117Val) n.145A>G n.890A>G c.88A>G (p.Ile30Val) c.820A>G (p.Ile274Val) c.505A>G (p.Ile169Val) c.169A>G (p.Ile57Val) c.196-5219A>G (n.196-5219A>G) c.292A>G (p.Ile98Val) c.784A>G (p.Ile262Val) c.268A>G (p.Ile90Val) n.405A>G c.934A>G (p.Ile312Val) c.931A>G (p.Ile311Val) c.796A>G (p.Ile266Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.77482263A>T | CA401207916 | SEPTIN9 | c.787A>T (p.Ile263Phe) c.841A>T (p.Ile281Phe) c.349A>T (p.Ile117Phe) n.145A>T n.890A>T c.88A>T (p.Ile30Phe) c.820A>T (p.Ile274Phe) c.505A>T (p.Ile169Phe) c.169A>T (p.Ile57Phe) c.196-5219A>T (n.196-5219A>T) c.292A>T (p.Ile98Phe) c.784A>T (p.Ile262Phe) c.268A>T (p.Ile90Phe) n.405A>T c.934A>T (p.Ile312Phe) c.931A>T (p.Ile311Phe) c.796A>T (p.Ile266Phe) | |
17 | g.77482264T>A | CA401207917 | SEPTIN9 | c.788T>A (p.Ile263Asn) c.842T>A (p.Ile281Asn) c.350T>A (p.Ile117Asn) n.146T>A n.891T>A c.89T>A (p.Ile30Asn) c.821T>A (p.Ile274Asn) c.506T>A (p.Ile169Asn) c.170T>A (p.Ile57Asn) c.196-5218T>A (n.196-5218T>A) c.293T>A (p.Ile98Asn) c.785T>A (p.Ile262Asn) c.269T>A (p.Ile90Asn) n.406T>A c.935T>A (p.Ile312Asn) c.932T>A (p.Ile311Asn) c.797T>A (p.Ile266Asn) | |
17 | g.77482264T>C | CA401207918 | SEPTIN9 | c.788T>C (p.Ile263Thr) c.842T>C (p.Ile281Thr) c.350T>C (p.Ile117Thr) n.146T>C n.891T>C c.89T>C (p.Ile30Thr) c.821T>C (p.Ile274Thr) c.506T>C (p.Ile169Thr) c.170T>C (p.Ile57Thr) c.196-5218T>C (n.196-5218T>C) c.293T>C (p.Ile98Thr) c.785T>C (p.Ile262Thr) c.269T>C (p.Ile90Thr) n.406T>C c.935T>C (p.Ile312Thr) c.932T>C (p.Ile311Thr) c.797T>C (p.Ile266Thr) | |
17 | g.77482264T>G | CA401207919 | SEPTIN9 | c.788T>G (p.Ile263Ser) c.842T>G (p.Ile281Ser) c.350T>G (p.Ile117Ser) n.146T>G n.891T>G c.89T>G (p.Ile30Ser) c.821T>G (p.Ile274Ser) c.506T>G (p.Ile169Ser) c.170T>G (p.Ile57Ser) c.196-5218T>G (n.196-5218T>G) c.293T>G (p.Ile98Ser) c.785T>G (p.Ile262Ser) c.269T>G (p.Ile90Ser) n.406T>G c.935T>G (p.Ile312Ser) c.932T>G (p.Ile311Ser) c.797T>G (p.Ile266Ser) | |
17 | g.77482265T>A | CA501952121 | SEPTIN9 | c.789T>A (p.Ile263=) c.843T>A (p.Ile281=) c.351T>A (p.Ile117=) n.147T>A n.892T>A c.90T>A (p.Ile30=) c.822T>A (p.Ile274=) c.507T>A (p.Ile169=) c.171T>A (p.Ile57=) c.196-5217T>A (n.196-5217T>A) c.294T>A (p.Ile98=) c.786T>A (p.Ile262=) c.270T>A (p.Ile90=) n.407T>A c.936T>A (p.Ile312=) c.933T>A (p.Ile311=) c.798T>A (p.Ile266=) | |
17 | g.77482265T>C | CA501952122 | SEPTIN9 | c.789T>C (p.Ile263=) c.843T>C (p.Ile281=) c.351T>C (p.Ile117=) n.147T>C n.892T>C c.90T>C (p.Ile30=) c.822T>C (p.Ile274=) c.507T>C (p.Ile169=) c.171T>C (p.Ile57=) c.196-5217T>C (n.196-5217T>C) c.294T>C (p.Ile98=) c.786T>C (p.Ile262=) c.270T>C (p.Ile90=) n.407T>C c.936T>C (p.Ile312=) c.933T>C (p.Ile311=) c.798T>C (p.Ile266=) | |
17 | g.77482265T>G | CA401207920 | SEPTIN9 | c.789T>G (p.Ile263Met) c.843T>G (p.Ile281Met) c.351T>G (p.Ile117Met) n.147T>G n.892T>G c.90T>G (p.Ile30Met) c.822T>G (p.Ile274Met) c.507T>G (p.Ile169Met) c.171T>G (p.Ile57Met) c.196-5217T>G (n.196-5217T>G) c.294T>G (p.Ile98Met) c.786T>G (p.Ile262Met) c.270T>G (p.Ile90Met) n.407T>G c.936T>G (p.Ile312Met) c.933T>G (p.Ile311Met) c.798T>G (p.Ile266Met) | |
17 | g.77482266G>A | CA401207921 | SEPTIN9 | c.790G>A (p.Asp264Asn) c.844G>A (p.Asp282Asn) c.352G>A (p.Asp118Asn) n.148G>A n.893G>A c.91G>A (p.Asp31Asn) c.823G>A (p.Asp275Asn) c.508G>A (p.Asp170Asn) c.172G>A (p.Asp58Asn) c.196-5216G>A (n.196-5216G>A) c.295G>A (p.Asp99Asn) c.787G>A (p.Asp263Asn) c.271G>A (p.Asp91Asn) n.408G>A c.937G>A (p.Asp313Asn) c.934G>A (p.Asp312Asn) c.799G>A (p.Asp267Asn) | |
17 | g.77482266G>C | CA401207922 | SEPTIN9 | c.790G>C (p.Asp264His) c.844G>C (p.Asp282His) c.352G>C (p.Asp118His) n.148G>C n.893G>C c.91G>C (p.Asp31His) c.823G>C (p.Asp275His) c.508G>C (p.Asp170His) c.172G>C (p.Asp58His) c.196-5216G>C (n.196-5216G>C) c.295G>C (p.Asp99His) c.787G>C (p.Asp263His) c.271G>C (p.Asp91His) n.408G>C c.937G>C (p.Asp313His) c.934G>C (p.Asp312His) c.799G>C (p.Asp267His) | |
17 | g.77482266G>T | CA401207923 | SEPTIN9 | c.790G>T (p.Asp264Tyr) c.844G>T (p.Asp282Tyr) c.352G>T (p.Asp118Tyr) n.148G>T n.893G>T c.91G>T (p.Asp31Tyr) c.823G>T (p.Asp275Tyr) c.508G>T (p.Asp170Tyr) c.172G>T (p.Asp58Tyr) c.196-5216G>T (n.196-5216G>T) c.295G>T (p.Asp99Tyr) c.787G>T (p.Asp263Tyr) c.271G>T (p.Asp91Tyr) n.408G>T c.937G>T (p.Asp313Tyr) c.934G>T (p.Asp312Tyr) c.799G>T (p.Asp267Tyr) | |
17 | g.77482267A>C | CA401207924 | SEPTIN9 | c.791A>C (p.Asp264Ala) c.845A>C (p.Asp282Ala) c.353A>C (p.Asp118Ala) n.149A>C n.894A>C c.92A>C (p.Asp31Ala) c.824A>C (p.Asp275Ala) c.509A>C (p.Asp170Ala) c.173A>C (p.Asp58Ala) c.196-5215A>C (n.196-5215A>C) c.296A>C (p.Asp99Ala) c.788A>C (p.Asp263Ala) c.272A>C (p.Asp91Ala) n.409A>C c.938A>C (p.Asp313Ala) c.935A>C (p.Asp312Ala) c.800A>C (p.Asp267Ala) | |
17 | g.77482267A>G | CA401207926 | SEPTIN9 | c.791A>G (p.Asp264Gly) c.845A>G (p.Asp282Gly) c.353A>G (p.Asp118Gly) n.149A>G n.894A>G c.92A>G (p.Asp31Gly) c.824A>G (p.Asp275Gly) c.509A>G (p.Asp170Gly) c.173A>G (p.Asp58Gly) c.196-5215A>G (n.196-5215A>G) c.296A>G (p.Asp99Gly) c.788A>G (p.Asp263Gly) c.272A>G (p.Asp91Gly) n.409A>G c.938A>G (p.Asp313Gly) c.935A>G (p.Asp312Gly) c.800A>G (p.Asp267Gly) | |
17 | g.77482267A>T | CA401207925 | SEPTIN9 | c.791A>T (p.Asp264Val) c.845A>T (p.Asp282Val) c.353A>T (p.Asp118Val) n.149A>T n.894A>T c.92A>T (p.Asp31Val) c.824A>T (p.Asp275Val) c.509A>T (p.Asp170Val) c.173A>T (p.Asp58Val) c.196-5215A>T (n.196-5215A>T) c.296A>T (p.Asp99Val) c.788A>T (p.Asp263Val) c.272A>T (p.Asp91Val) n.409A>T c.938A>T (p.Asp313Val) c.935A>T (p.Asp312Val) c.800A>T (p.Asp267Val) | |
17 | g.77482268C>A | CA401207927 | SEPTIN9 | c.792C>A (p.Asp264Glu) c.846C>A (p.Asp282Glu) c.354C>A (p.Asp118Glu) n.150C>A n.895C>A c.93C>A (p.Asp31Glu) c.825C>A (p.Asp275Glu) c.510C>A (p.Asp170Glu) c.174C>A (p.Asp58Glu) c.196-5214C>A (n.196-5214C>A) c.297C>A (p.Asp99Glu) c.789C>A (p.Asp263Glu) c.273C>A (p.Asp91Glu) n.410C>A c.939C>A (p.Asp313Glu) c.936C>A (p.Asp312Glu) c.801C>A (p.Asp267Glu) | |
17 | g.77482268C= | CA2276500443 | SEPTIN9 | c.792C= (p.Asp264=) c.846C= (p.Asp282=) c.354C= (p.Asp118=) n.150C= n.895C= c.93C= (p.Asp31=) c.825C= (p.Asp275=) c.510C= (p.Asp170=) c.174C= (p.Asp58=) c.196-5214C= (n.196-5214C=) c.297C= (p.Asp99=) c.789C= (p.Asp263=) c.273C= (p.Asp91=) n.410C= c.939C= (p.Asp313=) c.936C= (p.Asp312=) c.801C= (p.Asp267=) | |
17 | g.77482268C>G | CA401207928 | SEPTIN9 | c.792C>G (p.Asp264Glu) c.846C>G (p.Asp282Glu) c.354C>G (p.Asp118Glu) n.150C>G n.895C>G c.93C>G (p.Asp31Glu) c.825C>G (p.Asp275Glu) c.510C>G (p.Asp170Glu) c.174C>G (p.Asp58Glu) c.196-5214C>G (n.196-5214C>G) c.297C>G (p.Asp99Glu) c.789C>G (p.Asp263Glu) c.273C>G (p.Asp91Glu) n.410C>G c.939C>G (p.Asp313Glu) c.936C>G (p.Asp312Glu) c.801C>G (p.Asp267Glu) | |
17 | g.77482268C>T | CA501952124 | SEPTIN9 | c.792C>T (p.Asp264=) c.846C>T (p.Asp282=) c.354C>T (p.Asp118=) n.150C>T n.895C>T c.93C>T (p.Asp31=) c.825C>T (p.Asp275=) c.510C>T (p.Asp170=) c.174C>T (p.Asp58=) c.196-5214C>T (n.196-5214C>T) c.297C>T (p.Asp99=) c.789C>T (p.Asp263=) c.273C>T (p.Asp91=) n.410C>T c.939C>T (p.Asp313=) c.936C>T (p.Asp312=) c.801C>T (p.Asp267=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.77482269T>A | CA401207929 | SEPTIN9 | c.793T>A (p.Ser265Thr) c.847T>A (p.Ser283Thr) c.355T>A (p.Ser119Thr) n.151T>A n.896T>A c.94T>A (p.Ser32Thr) c.826T>A (p.Ser276Thr) c.511T>A (p.Ser171Thr) c.175T>A (p.Ser59Thr) c.196-5213T>A (n.196-5213T>A) c.298T>A (p.Ser100Thr) c.790T>A (p.Ser264Thr) c.274T>A (p.Ser92Thr) n.411T>A c.940T>A (p.Ser314Thr) c.937T>A (p.Ser313Thr) c.802T>A (p.Ser268Thr) | |
17 | g.77482269T>C | CA401207930 | SEPTIN9 | c.793T>C (p.Ser265Pro) c.847T>C (p.Ser283Pro) c.355T>C (p.Ser119Pro) n.151T>C n.896T>C c.94T>C (p.Ser32Pro) c.826T>C (p.Ser276Pro) c.511T>C (p.Ser171Pro) c.175T>C (p.Ser59Pro) c.196-5213T>C (n.196-5213T>C) c.298T>C (p.Ser100Pro) c.790T>C (p.Ser264Pro) c.274T>C (p.Ser92Pro) n.411T>C c.940T>C (p.Ser314Pro) c.937T>C (p.Ser313Pro) c.802T>C (p.Ser268Pro) | |
17 | g.77482269T>G | CA401207931 | SEPTIN9 | c.793T>G (p.Ser265Ala) c.847T>G (p.Ser283Ala) c.355T>G (p.Ser119Ala) n.151T>G n.896T>G c.94T>G (p.Ser32Ala) c.826T>G (p.Ser276Ala) c.511T>G (p.Ser171Ala) c.175T>G (p.Ser59Ala) c.196-5213T>G (n.196-5213T>G) c.298T>G (p.Ser100Ala) c.790T>G (p.Ser264Ala) c.274T>G (p.Ser92Ala) n.411T>G c.940T>G (p.Ser314Ala) c.937T>G (p.Ser313Ala) c.802T>G (p.Ser268Ala) | |
17 | g.77482270C>A | CA8793539 | SEPTIN9 | c.794C>A (p.Ser265Tyr) c.848C>A (p.Ser283Tyr) c.356C>A (p.Ser119Tyr) n.152C>A n.897C>A c.95C>A (p.Ser32Tyr) c.827C>A (p.Ser276Tyr) c.512C>A (p.Ser171Tyr) c.176C>A (p.Ser59Tyr) c.196-5212C>A (n.196-5212C>A) c.299C>A (p.Ser100Tyr) c.791C>A (p.Ser264Tyr) c.275C>A (p.Ser92Tyr) n.412C>A c.941C>A (p.Ser314Tyr) c.938C>A (p.Ser313Tyr) c.803C>A (p.Ser268Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482270C= | CA2276500444 | SEPTIN9 | c.794C= (p.Ser265=) c.848C= (p.Ser283=) c.356C= (p.Ser119=) n.152C= n.897C= c.95C= (p.Ser32=) c.827C= (p.Ser276=) c.512C= (p.Ser171=) c.176C= (p.Ser59=) c.196-5212C= (n.196-5212C=) c.299C= (p.Ser100=) c.791C= (p.Ser264=) c.275C= (p.Ser92=) n.412C= c.941C= (p.Ser314=) c.938C= (p.Ser313=) c.803C= (p.Ser268=) | |
17 | g.77482270C>G | CA401207932 | SEPTIN9 | c.794C>G (p.Ser265Cys) c.848C>G (p.Ser283Cys) c.356C>G (p.Ser119Cys) n.152C>G n.897C>G c.95C>G (p.Ser32Cys) c.827C>G (p.Ser276Cys) c.512C>G (p.Ser171Cys) c.176C>G (p.Ser59Cys) c.196-5212C>G (n.196-5212C>G) c.299C>G (p.Ser100Cys) c.791C>G (p.Ser264Cys) c.275C>G (p.Ser92Cys) n.412C>G c.941C>G (p.Ser314Cys) c.938C>G (p.Ser313Cys) c.803C>G (p.Ser268Cys) | |
17 | g.77482270C>T | CA401207933 | SEPTIN9 | c.794C>T (p.Ser265Phe) c.848C>T (p.Ser283Phe) c.356C>T (p.Ser119Phe) n.152C>T n.897C>T c.95C>T (p.Ser32Phe) c.827C>T (p.Ser276Phe) c.512C>T (p.Ser171Phe) c.176C>T (p.Ser59Phe) c.196-5212C>T (n.196-5212C>T) c.299C>T (p.Ser100Phe) c.791C>T (p.Ser264Phe) c.275C>T (p.Ser92Phe) n.412C>T c.941C>T (p.Ser314Phe) c.938C>T (p.Ser313Phe) c.803C>T (p.Ser268Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.77482271C>A | CA501952127 | SEPTIN9 | c.795C>A (p.Ser265=) c.849C>A (p.Ser283=) c.357C>A (p.Ser119=) n.153C>A n.898C>A c.96C>A (p.Ser32=) c.828C>A (p.Ser276=) c.513C>A (p.Ser171=) c.177C>A (p.Ser59=) c.196-5211C>A (n.196-5211C>A) c.300C>A (p.Ser100=) c.792C>A (p.Ser264=) c.276C>A (p.Ser92=) n.413C>A c.942C>A (p.Ser314=) c.939C>A (p.Ser313=) c.804C>A (p.Ser268=) | |
17 | g.77482271C>G | CA501952126 | SEPTIN9 | c.795C>G (p.Ser265=) c.849C>G (p.Ser283=) c.357C>G (p.Ser119=) n.153C>G n.898C>G c.96C>G (p.Ser32=) c.828C>G (p.Ser276=) c.513C>G (p.Ser171=) c.177C>G (p.Ser59=) c.196-5211C>G (n.196-5211C>G) c.300C>G (p.Ser100=) c.792C>G (p.Ser264=) c.276C>G (p.Ser92=) n.413C>G c.942C>G (p.Ser314=) c.939C>G (p.Ser313=) c.804C>G (p.Ser268=) | |
17 | g.77482271C>T | CA501952125 | SEPTIN9 | c.795C>T (p.Ser265=) c.849C>T (p.Ser283=) c.357C>T (p.Ser119=) n.153C>T n.898C>T c.96C>T (p.Ser32=) c.828C>T (p.Ser276=) c.513C>T (p.Ser171=) c.177C>T (p.Ser59=) c.196-5211C>T (n.196-5211C>T) c.300C>T (p.Ser100=) c.792C>T (p.Ser264=) c.276C>T (p.Ser92=) n.413C>T c.942C>T (p.Ser314=) c.939C>T (p.Ser313=) c.804C>T (p.Ser268=) | |
17 | g.77482272A= | CA2276500445 | SEPTIN9 | c.796A= (p.Ile266=) c.850A= (p.Ile284=) c.358A= (p.Ile120=) n.154A= n.899A= c.97A= (p.Ile33=) c.829A= (p.Ile277=) c.514A= (p.Ile172=) c.178A= (p.Ile60=) c.196-5210A= (n.196-5210A=) c.301A= (p.Ile101=) c.793A= (p.Ile265=) c.277A= (p.Ile93=) n.414A= c.943A= (p.Ile315=) c.940A= (p.Ile314=) c.805A= (p.Ile269=) | |
17 | g.77482272A>C | CA401207934 | SEPTIN9 | c.796A>C (p.Ile266Leu) c.850A>C (p.Ile284Leu) c.358A>C (p.Ile120Leu) n.154A>C n.899A>C c.97A>C (p.Ile33Leu) c.829A>C (p.Ile277Leu) c.514A>C (p.Ile172Leu) c.178A>C (p.Ile60Leu) c.196-5210A>C (n.196-5210A>C) c.301A>C (p.Ile101Leu) c.793A>C (p.Ile265Leu) c.277A>C (p.Ile93Leu) n.414A>C c.943A>C (p.Ile315Leu) c.940A>C (p.Ile314Leu) c.805A>C (p.Ile269Leu) | |
17 | g.77482272A>G | CA401207935 | SEPTIN9 | c.796A>G (p.Ile266Val) c.850A>G (p.Ile284Val) c.358A>G (p.Ile120Val) n.154A>G n.899A>G c.97A>G (p.Ile33Val) c.829A>G (p.Ile277Val) c.514A>G (p.Ile172Val) c.178A>G (p.Ile60Val) c.196-5210A>G (n.196-5210A>G) c.301A>G (p.Ile101Val) c.793A>G (p.Ile265Val) c.277A>G (p.Ile93Val) n.414A>G c.943A>G (p.Ile315Val) c.940A>G (p.Ile314Val) c.805A>G (p.Ile269Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482272A>T | CA401207936 | SEPTIN9 | c.796A>T (p.Ile266Phe) c.850A>T (p.Ile284Phe) c.358A>T (p.Ile120Phe) n.154A>T n.899A>T c.97A>T (p.Ile33Phe) c.829A>T (p.Ile277Phe) c.514A>T (p.Ile172Phe) c.178A>T (p.Ile60Phe) c.196-5210A>T (n.196-5210A>T) c.301A>T (p.Ile101Phe) c.793A>T (p.Ile265Phe) c.277A>T (p.Ile93Phe) n.414A>T c.943A>T (p.Ile315Phe) c.940A>T (p.Ile314Phe) c.805A>T (p.Ile269Phe) | |
17 | g.77482273T>A | CA401207938 | SEPTIN9 | c.797T>A (p.Ile266Asn) c.851T>A (p.Ile284Asn) c.359T>A (p.Ile120Asn) n.155T>A n.900T>A c.98T>A (p.Ile33Asn) c.830T>A (p.Ile277Asn) c.515T>A (p.Ile172Asn) c.179T>A (p.Ile60Asn) c.196-5209T>A (n.196-5209T>A) c.302T>A (p.Ile101Asn) c.794T>A (p.Ile265Asn) c.278T>A (p.Ile93Asn) n.415T>A c.944T>A (p.Ile315Asn) c.941T>A (p.Ile314Asn) c.806T>A (p.Ile269Asn) | |
17 | g.77482273T>C | CA401207939 | SEPTIN9 | c.797T>C (p.Ile266Thr) c.851T>C (p.Ile284Thr) c.359T>C (p.Ile120Thr) n.155T>C n.900T>C c.98T>C (p.Ile33Thr) c.830T>C (p.Ile277Thr) c.515T>C (p.Ile172Thr) c.179T>C (p.Ile60Thr) c.196-5209T>C (n.196-5209T>C) c.302T>C (p.Ile101Thr) c.794T>C (p.Ile265Thr) c.278T>C (p.Ile93Thr) n.415T>C c.944T>C (p.Ile315Thr) c.941T>C (p.Ile314Thr) c.806T>C (p.Ile269Thr) | |
17 | g.77482273T>G | CA401207937 | SEPTIN9 | c.797T>G (p.Ile266Ser) c.851T>G (p.Ile284Ser) c.359T>G (p.Ile120Ser) n.155T>G n.900T>G c.98T>G (p.Ile33Ser) c.830T>G (p.Ile277Ser) c.515T>G (p.Ile172Ser) c.179T>G (p.Ile60Ser) c.196-5209T>G (n.196-5209T>G) c.302T>G (p.Ile101Ser) c.794T>G (p.Ile265Ser) c.278T>G (p.Ile93Ser) n.415T>G c.944T>G (p.Ile315Ser) c.941T>G (p.Ile314Ser) c.806T>G (p.Ile269Ser) | |
17 | g.77482274C>A | CA501952129 | SEPTIN9 | c.798C>A (p.Ile266=) c.852C>A (p.Ile284=) c.360C>A (p.Ile120=) n.156C>A n.901C>A c.99C>A (p.Ile33=) c.831C>A (p.Ile277=) c.516C>A (p.Ile172=) c.180C>A (p.Ile60=) c.196-5208C>A (n.196-5208C>A) c.303C>A (p.Ile101=) c.795C>A (p.Ile265=) c.279C>A (p.Ile93=) n.416C>A c.945C>A (p.Ile315=) c.942C>A (p.Ile314=) c.807C>A (p.Ile269=) | |
17 | g.77482274C>G | CA401207940 | SEPTIN9 | c.798C>G (p.Ile266Met) c.852C>G (p.Ile284Met) c.360C>G (p.Ile120Met) n.156C>G n.901C>G c.99C>G (p.Ile33Met) c.831C>G (p.Ile277Met) c.516C>G (p.Ile172Met) c.180C>G (p.Ile60Met) c.196-5208C>G (n.196-5208C>G) c.303C>G (p.Ile101Met) c.795C>G (p.Ile265Met) c.279C>G (p.Ile93Met) n.416C>G c.945C>G (p.Ile315Met) c.942C>G (p.Ile314Met) c.807C>G (p.Ile269Met) | |
17 | g.77482274C>T | CA501952128 | SEPTIN9 | c.798C>T (p.Ile266=) c.852C>T (p.Ile284=) c.360C>T (p.Ile120=) n.156C>T n.901C>T c.99C>T (p.Ile33=) c.831C>T (p.Ile277=) c.516C>T (p.Ile172=) c.180C>T (p.Ile60=) c.196-5208C>T (n.196-5208C>T) c.303C>T (p.Ile101=) c.795C>T (p.Ile265=) c.279C>T (p.Ile93=) n.416C>T c.945C>T (p.Ile315=) c.942C>T (p.Ile314=) c.807C>T (p.Ile269=) | gnomAD v4 |
17 | g.77482275C>A | CA401207941 | SEPTIN9 | c.799C>A (p.Leu267Met) c.853C>A (p.Leu285Met) c.361C>A (p.Leu121Met) n.157C>A n.902C>A c.100C>A (p.Leu34Met) c.832C>A (p.Leu278Met) c.517C>A (p.Leu173Met) c.181C>A (p.Leu61Met) c.196-5207C>A (n.196-5207C>A) c.304C>A (p.Leu102Met) c.796C>A (p.Leu266Met) c.280C>A (p.Leu94Met) n.417C>A c.946C>A (p.Leu316Met) c.943C>A (p.Leu315Met) c.808C>A (p.Leu270Met) | |
17 | g.77482275C>G | CA401207942 | SEPTIN9 | c.799C>G (p.Leu267Val) c.853C>G (p.Leu285Val) c.361C>G (p.Leu121Val) n.157C>G n.902C>G c.100C>G (p.Leu34Val) c.832C>G (p.Leu278Val) c.517C>G (p.Leu173Val) c.181C>G (p.Leu61Val) c.196-5207C>G (n.196-5207C>G) c.304C>G (p.Leu102Val) c.796C>G (p.Leu266Val) c.280C>G (p.Leu94Val) n.417C>G c.946C>G (p.Leu316Val) c.943C>G (p.Leu315Val) c.808C>G (p.Leu270Val) | |
17 | g.77482275C>T | CA501952130 | SEPTIN9 | c.799C>T (p.Leu267=) c.853C>T (p.Leu285=) c.361C>T (p.Leu121=) n.157C>T n.902C>T c.100C>T (p.Leu34=) c.832C>T (p.Leu278=) c.517C>T (p.Leu173=) c.181C>T (p.Leu61=) c.196-5207C>T (n.196-5207C>T) c.304C>T (p.Leu102=) c.796C>T (p.Leu266=) c.280C>T (p.Leu94=) n.417C>T c.946C>T (p.Leu316=) c.943C>T (p.Leu315=) c.808C>T (p.Leu270=) | |
17 | g.77482276T>A | CA401207943 | SEPTIN9 | c.800T>A (p.Leu267Gln) c.854T>A (p.Leu285Gln) c.362T>A (p.Leu121Gln) n.158T>A n.903T>A c.101T>A (p.Leu34Gln) c.833T>A (p.Leu278Gln) c.518T>A (p.Leu173Gln) c.182T>A (p.Leu61Gln) c.196-5206T>A (n.196-5206T>A) c.305T>A (p.Leu102Gln) c.797T>A (p.Leu266Gln) c.281T>A (p.Leu94Gln) n.418T>A c.947T>A (p.Leu316Gln) c.944T>A (p.Leu315Gln) c.809T>A (p.Leu270Gln) | |
17 | g.77482276T>C | CA401207944 | SEPTIN9 | c.800T>C (p.Leu267Pro) c.854T>C (p.Leu285Pro) c.362T>C (p.Leu121Pro) n.158T>C n.903T>C c.101T>C (p.Leu34Pro) c.833T>C (p.Leu278Pro) c.518T>C (p.Leu173Pro) c.182T>C (p.Leu61Pro) c.196-5206T>C (n.196-5206T>C) c.305T>C (p.Leu102Pro) c.797T>C (p.Leu266Pro) c.281T>C (p.Leu94Pro) n.418T>C c.947T>C (p.Leu316Pro) c.944T>C (p.Leu315Pro) c.809T>C (p.Leu270Pro) | |
17 | g.77482276T>G | CA401207945 | SEPTIN9 | c.800T>G (p.Leu267Arg) c.854T>G (p.Leu285Arg) c.362T>G (p.Leu121Arg) n.158T>G n.903T>G c.101T>G (p.Leu34Arg) c.833T>G (p.Leu278Arg) c.518T>G (p.Leu173Arg) c.182T>G (p.Leu61Arg) c.196-5206T>G (n.196-5206T>G) c.305T>G (p.Leu102Arg) c.797T>G (p.Leu266Arg) c.281T>G (p.Leu94Arg) n.418T>G c.947T>G (p.Leu316Arg) c.944T>G (p.Leu315Arg) c.809T>G (p.Leu270Arg) | |
17 | g.77482277G>A | CA501952132 | SEPTIN9 | c.801G>A (p.Leu267=) c.855G>A (p.Leu285=) c.363G>A (p.Leu121=) n.159G>A n.904G>A c.102G>A (p.Leu34=) c.834G>A (p.Leu278=) c.519G>A (p.Leu173=) c.183G>A (p.Leu61=) c.196-5205G>A (n.196-5205G>A) c.306G>A (p.Leu102=) c.798G>A (p.Leu266=) c.282G>A (p.Leu94=) n.419G>A c.948G>A (p.Leu316=) c.945G>A (p.Leu315=) c.810G>A (p.Leu270=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.77482277G>C | CA501952134 | SEPTIN9 | c.801G>C (p.Leu267=) c.855G>C (p.Leu285=) c.363G>C (p.Leu121=) n.159G>C n.904G>C c.102G>C (p.Leu34=) c.834G>C (p.Leu278=) c.519G>C (p.Leu173=) c.183G>C (p.Leu61=) c.196-5205G>C (n.196-5205G>C) c.306G>C (p.Leu102=) c.798G>C (p.Leu266=) c.282G>C (p.Leu94=) n.419G>C c.948G>C (p.Leu316=) c.945G>C (p.Leu315=) c.810G>C (p.Leu270=) | |
17 | g.77482277G= | CA2276500446 | SEPTIN9 | c.801G= (p.Leu267=) c.855G= (p.Leu285=) c.363G= (p.Leu121=) n.159G= n.904G= c.102G= (p.Leu34=) c.834G= (p.Leu278=) c.519G= (p.Leu173=) c.183G= (p.Leu61=) c.196-5205G= (n.196-5205G=) c.306G= (p.Leu102=) c.798G= (p.Leu266=) c.282G= (p.Leu94=) n.419G= c.948G= (p.Leu316=) c.945G= (p.Leu315=) c.810G= (p.Leu270=) | |
17 | g.77482277G>T | CA501952133 | SEPTIN9 | c.801G>T (p.Leu267=) c.855G>T (p.Leu285=) c.363G>T (p.Leu121=) n.159G>T n.904G>T c.102G>T (p.Leu34=) c.834G>T (p.Leu278=) c.519G>T (p.Leu173=) c.183G>T (p.Leu61=) c.196-5205G>T (n.196-5205G>T) c.306G>T (p.Leu102=) c.798G>T (p.Leu266=) c.282G>T (p.Leu94=) n.419G>T c.948G>T (p.Leu316=) c.945G>T (p.Leu315=) c.810G>T (p.Leu270=) | |
17 | g.77482278G>A | CA401207946 | SEPTIN9 | c.802G>A (p.Glu268Lys) c.856G>A (p.Glu286Lys) c.364G>A (p.Glu122Lys) n.160G>A n.905G>A c.103G>A (p.Glu35Lys) c.835G>A (p.Glu279Lys) c.520G>A (p.Glu174Lys) c.184G>A (p.Glu62Lys) c.196-5204G>A (n.196-5204G>A) c.307G>A (p.Glu103Lys) c.799G>A (p.Glu267Lys) c.283G>A (p.Glu95Lys) n.420G>A c.949G>A (p.Glu317Lys) c.946G>A (p.Glu316Lys) c.811G>A (p.Glu271Lys) | |
17 | g.77482278G>C | CA401207947 | SEPTIN9 | c.802G>C (p.Glu268Gln) c.856G>C (p.Glu286Gln) c.364G>C (p.Glu122Gln) n.160G>C n.905G>C c.103G>C (p.Glu35Gln) c.835G>C (p.Glu279Gln) c.520G>C (p.Glu174Gln) c.184G>C (p.Glu62Gln) c.196-5204G>C (n.196-5204G>C) c.307G>C (p.Glu103Gln) c.799G>C (p.Glu267Gln) c.283G>C (p.Glu95Gln) n.420G>C c.949G>C (p.Glu317Gln) c.946G>C (p.Glu316Gln) c.811G>C (p.Glu271Gln) | |
17 | g.77482278G>T | CA401207948 | SEPTIN9 | c.802G>T (p.Glu268Ter) c.856G>T (p.Glu286Ter) c.364G>T (p.Glu122Ter) n.160G>T n.905G>T c.103G>T (p.Glu35Ter) c.835G>T (p.Glu279Ter) c.520G>T (p.Glu174Ter) c.184G>T (p.Glu62Ter) c.196-5204G>T (n.196-5204G>T) c.307G>T (p.Glu103Ter) c.799G>T (p.Glu267Ter) c.283G>T (p.Glu95Ter) n.420G>T c.949G>T (p.Glu317Ter) c.946G>T (p.Glu316Ter) c.811G>T (p.Glu271Ter) | |
17 | g.77482279A>C | CA401207949 | SEPTIN9 | c.803A>C (p.Glu268Ala) c.857A>C (p.Glu286Ala) c.365A>C (p.Glu122Ala) n.161A>C n.906A>C c.104A>C (p.Glu35Ala) c.836A>C (p.Glu279Ala) c.521A>C (p.Glu174Ala) c.185A>C (p.Glu62Ala) c.196-5203A>C (n.196-5203A>C) c.308A>C (p.Glu103Ala) c.800A>C (p.Glu267Ala) c.284A>C (p.Glu95Ala) n.421A>C c.950A>C (p.Glu317Ala) c.947A>C (p.Glu316Ala) c.812A>C (p.Glu271Ala) | |
17 | g.77482279A>G | CA401207950 | SEPTIN9 | c.803A>G (p.Glu268Gly) c.857A>G (p.Glu286Gly) c.365A>G (p.Glu122Gly) n.161A>G n.906A>G c.104A>G (p.Glu35Gly) c.836A>G (p.Glu279Gly) c.521A>G (p.Glu174Gly) c.185A>G (p.Glu62Gly) c.196-5203A>G (n.196-5203A>G) c.308A>G (p.Glu103Gly) c.800A>G (p.Glu267Gly) c.284A>G (p.Glu95Gly) n.421A>G c.950A>G (p.Glu317Gly) c.947A>G (p.Glu316Gly) c.812A>G (p.Glu271Gly) | |
17 | g.77482279A>T | CA401207951 | SEPTIN9 | c.803A>T (p.Glu268Val) c.857A>T (p.Glu286Val) c.365A>T (p.Glu122Val) n.161A>T n.906A>T c.104A>T (p.Glu35Val) c.836A>T (p.Glu279Val) c.521A>T (p.Glu174Val) c.185A>T (p.Glu62Val) c.196-5203A>T (n.196-5203A>T) c.308A>T (p.Glu103Val) c.800A>T (p.Glu267Val) c.284A>T (p.Glu95Val) n.421A>T c.950A>T (p.Glu317Val) c.947A>T (p.Glu316Val) c.812A>T (p.Glu271Val) | |
17 | g.77482280G>A | CA501952135 | SEPTIN9 | c.804G>A (p.Glu268=) c.858G>A (p.Glu286=) c.366G>A (p.Glu122=) n.162G>A n.907G>A c.105G>A (p.Glu35=) c.837G>A (p.Glu279=) c.522G>A (p.Glu174=) c.186G>A (p.Glu62=) c.196-5202G>A (n.196-5202G>A) c.309G>A (p.Glu103=) c.801G>A (p.Glu267=) c.285G>A (p.Glu95=) n.422G>A c.951G>A (p.Glu317=) c.948G>A (p.Glu316=) c.813G>A (p.Glu271=) | gnomAD v4 |
17 | g.77482280G>C | CA401207952 | SEPTIN9 | c.804G>C (p.Glu268Asp) c.858G>C (p.Glu286Asp) c.366G>C (p.Glu122Asp) n.162G>C n.907G>C c.105G>C (p.Glu35Asp) c.837G>C (p.Glu279Asp) c.522G>C (p.Glu174Asp) c.186G>C (p.Glu62Asp) c.196-5202G>C (n.196-5202G>C) c.309G>C (p.Glu103Asp) c.801G>C (p.Glu267Asp) c.285G>C (p.Glu95Asp) n.422G>C c.951G>C (p.Glu317Asp) c.948G>C (p.Glu316Asp) c.813G>C (p.Glu271Asp) | |
17 | g.77482280G= | CA2276500447 | SEPTIN9 | c.804G= (p.Glu268=) c.858G= (p.Glu286=) c.366G= (p.Glu122=) n.162G= n.907G= c.105G= (p.Glu35=) c.837G= (p.Glu279=) c.522G= (p.Glu174=) c.186G= (p.Glu62=) c.196-5202G= (n.196-5202G=) c.309G= (p.Glu103=) c.801G= (p.Glu267=) c.285G= (p.Glu95=) n.422G= c.951G= (p.Glu317=) c.948G= (p.Glu316=) c.813G= (p.Glu271=) | |
17 | g.77482280G>T | CA8793540 | SEPTIN9 | c.804G>T (p.Glu268Asp) c.858G>T (p.Glu286Asp) c.366G>T (p.Glu122Asp) n.162G>T n.907G>T c.105G>T (p.Glu35Asp) c.837G>T (p.Glu279Asp) c.522G>T (p.Glu174Asp) c.186G>T (p.Glu62Asp) c.196-5202G>T (n.196-5202G>T) c.309G>T (p.Glu103Asp) c.801G>T (p.Glu267Asp) c.285G>T (p.Glu95Asp) n.422G>T c.951G>T (p.Glu317Asp) c.948G>T (p.Glu316Asp) c.813G>T (p.Glu271Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482281C>A | CA401207955 | SEPTIN9 | c.805C>A (p.Gln269Lys) c.859C>A (p.Gln287Lys) c.367C>A (p.Gln123Lys) n.163C>A n.908C>A c.106C>A (p.Gln36Lys) c.838C>A (p.Gln280Lys) c.523C>A (p.Gln175Lys) c.187C>A (p.Gln63Lys) c.196-5201C>A (n.196-5201C>A) c.310C>A (p.Gln104Lys) c.802C>A (p.Gln268Lys) c.286C>A (p.Gln96Lys) n.423C>A c.952C>A (p.Gln318Lys) c.949C>A (p.Gln317Lys) c.814C>A (p.Gln272Lys) | |
17 | g.77482281C>G | CA401207954 | SEPTIN9 | c.805C>G (p.Gln269Glu) c.859C>G (p.Gln287Glu) c.367C>G (p.Gln123Glu) n.163C>G n.908C>G c.106C>G (p.Gln36Glu) c.838C>G (p.Gln280Glu) c.523C>G (p.Gln175Glu) c.187C>G (p.Gln63Glu) c.196-5201C>G (n.196-5201C>G) c.310C>G (p.Gln104Glu) c.802C>G (p.Gln268Glu) c.286C>G (p.Gln96Glu) n.423C>G c.952C>G (p.Gln318Glu) c.949C>G (p.Gln317Glu) c.814C>G (p.Gln272Glu) | |
17 | g.77482281C>T | CA401207953 | SEPTIN9 | c.805C>T (p.Gln269Ter) c.859C>T (p.Gln287Ter) c.367C>T (p.Gln123Ter) n.163C>T n.908C>T c.106C>T (p.Gln36Ter) c.838C>T (p.Gln280Ter) c.523C>T (p.Gln175Ter) c.187C>T (p.Gln63Ter) c.196-5201C>T (n.196-5201C>T) c.310C>T (p.Gln104Ter) c.802C>T (p.Gln268Ter) c.286C>T (p.Gln96Ter) n.423C>T c.952C>T (p.Gln318Ter) c.949C>T (p.Gln317Ter) c.814C>T (p.Gln272Ter) | |
17 | g.77482282A>C | CA401207956 | SEPTIN9 | c.806A>C (p.Gln269Pro) c.860A>C (p.Gln287Pro) c.368A>C (p.Gln123Pro) n.164A>C n.909A>C c.107A>C (p.Gln36Pro) c.839A>C (p.Gln280Pro) c.524A>C (p.Gln175Pro) c.188A>C (p.Gln63Pro) c.196-5200A>C (n.196-5200A>C) c.311A>C (p.Gln104Pro) c.803A>C (p.Gln268Pro) c.287A>C (p.Gln96Pro) n.424A>C c.953A>C (p.Gln318Pro) c.950A>C (p.Gln317Pro) c.815A>C (p.Gln272Pro) | |
17 | g.77482282A>G | CA401207957 | SEPTIN9 | c.806A>G (p.Gln269Arg) c.860A>G (p.Gln287Arg) c.368A>G (p.Gln123Arg) n.164A>G n.909A>G c.107A>G (p.Gln36Arg) c.839A>G (p.Gln280Arg) c.524A>G (p.Gln175Arg) c.188A>G (p.Gln63Arg) c.196-5200A>G (n.196-5200A>G) c.311A>G (p.Gln104Arg) c.803A>G (p.Gln268Arg) c.287A>G (p.Gln96Arg) n.424A>G c.953A>G (p.Gln318Arg) c.950A>G (p.Gln317Arg) c.815A>G (p.Gln272Arg) | |
17 | g.77482282A>T | CA401207958 | SEPTIN9 | c.806A>T (p.Gln269Leu) c.860A>T (p.Gln287Leu) c.368A>T (p.Gln123Leu) n.164A>T n.909A>T c.107A>T (p.Gln36Leu) c.839A>T (p.Gln280Leu) c.524A>T (p.Gln175Leu) c.188A>T (p.Gln63Leu) c.196-5200A>T (n.196-5200A>T) c.311A>T (p.Gln104Leu) c.803A>T (p.Gln268Leu) c.287A>T (p.Gln96Leu) n.424A>T c.953A>T (p.Gln318Leu) c.950A>T (p.Gln317Leu) c.815A>T (p.Gln272Leu) | |
17 | g.77482283G>A | CA501952136 | SEPTIN9 | c.807G>A (p.Gln269=) c.861G>A (p.Gln287=) c.369G>A (p.Gln123=) n.165G>A n.910G>A c.108G>A (p.Gln36=) c.840G>A (p.Gln280=) c.525G>A (p.Gln175=) c.189G>A (p.Gln63=) c.196-5199G>A (n.196-5199G>A) c.312G>A (p.Gln104=) c.804G>A (p.Gln268=) c.288G>A (p.Gln96=) n.425G>A c.954G>A (p.Gln318=) c.951G>A (p.Gln317=) c.816G>A (p.Gln272=) | |
17 | g.77482283G>C | CA401207959 | SEPTIN9 | c.807G>C (p.Gln269His) c.861G>C (p.Gln287His) c.369G>C (p.Gln123His) n.165G>C n.910G>C c.108G>C (p.Gln36His) c.840G>C (p.Gln280His) c.525G>C (p.Gln175His) c.189G>C (p.Gln63His) c.196-5199G>C (n.196-5199G>C) c.312G>C (p.Gln104His) c.804G>C (p.Gln268His) c.288G>C (p.Gln96His) n.425G>C c.954G>C (p.Gln318His) c.951G>C (p.Gln317His) c.816G>C (p.Gln272His) | |
17 | g.77482283G>T | CA401207960 | SEPTIN9 | c.807G>T (p.Gln269His) c.861G>T (p.Gln287His) c.369G>T (p.Gln123His) n.165G>T n.910G>T c.108G>T (p.Gln36His) c.840G>T (p.Gln280His) c.525G>T (p.Gln175His) c.189G>T (p.Gln63His) c.196-5199G>T (n.196-5199G>T) c.312G>T (p.Gln104His) c.804G>T (p.Gln268His) c.288G>T (p.Gln96His) n.425G>T c.954G>T (p.Gln318His) c.951G>T (p.Gln317His) c.816G>T (p.Gln272His) | |
17 | g.77482284A>C | CA401207961 | SEPTIN9 | c.808A>C (p.Met270Leu) c.862A>C (p.Met288Leu) c.370A>C (p.Met124Leu) n.166A>C n.911A>C c.109A>C (p.Met37Leu) c.841A>C (p.Met281Leu) c.526A>C (p.Met176Leu) c.190A>C (p.Met64Leu) c.196-5198A>C (n.196-5198A>C) c.313A>C (p.Met105Leu) c.805A>C (p.Met269Leu) c.289A>C (p.Met97Leu) n.426A>C c.955A>C (p.Met319Leu) c.952A>C (p.Met318Leu) c.817A>C (p.Met273Leu) | |
17 | g.77482284A>G | CA401207962 | SEPTIN9 | c.808A>G (p.Met270Val) c.862A>G (p.Met288Val) c.370A>G (p.Met124Val) n.166A>G n.911A>G c.109A>G (p.Met37Val) c.841A>G (p.Met281Val) c.526A>G (p.Met176Val) c.190A>G (p.Met64Val) c.196-5198A>G (n.196-5198A>G) c.313A>G (p.Met105Val) c.805A>G (p.Met269Val) c.289A>G (p.Met97Val) n.426A>G c.955A>G (p.Met319Val) c.952A>G (p.Met318Val) c.817A>G (p.Met273Val) | |
17 | g.77482284A>T | CA401207963 | SEPTIN9 | c.808A>T (p.Met270Leu) c.862A>T (p.Met288Leu) c.370A>T (p.Met124Leu) n.166A>T n.911A>T c.109A>T (p.Met37Leu) c.841A>T (p.Met281Leu) c.526A>T (p.Met176Leu) c.190A>T (p.Met64Leu) c.196-5198A>T (n.196-5198A>T) c.313A>T (p.Met105Leu) c.805A>T (p.Met269Leu) c.289A>T (p.Met97Leu) n.426A>T c.955A>T (p.Met319Leu) c.952A>T (p.Met318Leu) c.817A>T (p.Met273Leu) | |
17 | g.77482285T>A | CA401207964 | SEPTIN9 | c.809T>A (p.Met270Lys) c.863T>A (p.Met288Lys) c.371T>A (p.Met124Lys) n.167T>A n.912T>A c.110T>A (p.Met37Lys) c.842T>A (p.Met281Lys) c.527T>A (p.Met176Lys) c.191T>A (p.Met64Lys) c.196-5197T>A (n.196-5197T>A) c.314T>A (p.Met105Lys) c.806T>A (p.Met269Lys) c.290T>A (p.Met97Lys) n.427T>A c.956T>A (p.Met319Lys) c.953T>A (p.Met318Lys) c.818T>A (p.Met273Lys) | |
17 | g.77482285T>C | CA8793541 | SEPTIN9 | c.809T>C (p.Met270Thr) c.863T>C (p.Met288Thr) c.371T>C (p.Met124Thr) n.167T>C n.912T>C c.110T>C (p.Met37Thr) c.842T>C (p.Met281Thr) c.527T>C (p.Met176Thr) c.191T>C (p.Met64Thr) c.196-5197T>C (n.196-5197T>C) c.314T>C (p.Met105Thr) c.806T>C (p.Met269Thr) c.290T>C (p.Met97Thr) n.427T>C c.956T>C (p.Met319Thr) c.953T>C (p.Met318Thr) c.818T>C (p.Met273Thr) | dbSNP ExAC gnomAD v2 |
17 | g.77482285T>G | CA401207965 | SEPTIN9 | c.809T>G (p.Met270Arg) c.863T>G (p.Met288Arg) c.371T>G (p.Met124Arg) n.167T>G n.912T>G c.110T>G (p.Met37Arg) c.842T>G (p.Met281Arg) c.527T>G (p.Met176Arg) c.191T>G (p.Met64Arg) c.196-5197T>G (n.196-5197T>G) c.314T>G (p.Met105Arg) c.806T>G (p.Met269Arg) c.290T>G (p.Met97Arg) n.427T>G c.956T>G (p.Met319Arg) c.953T>G (p.Met318Arg) c.818T>G (p.Met273Arg) | |
17 | g.77482285T= | CA2276500448 | SEPTIN9 | c.809T= (p.Met270=) c.863T= (p.Met288=) c.371T= (p.Met124=) n.167T= n.912T= c.110T= (p.Met37=) c.842T= (p.Met281=) c.527T= (p.Met176=) c.191T= (p.Met64=) c.196-5197T= (n.196-5197T=) c.314T= (p.Met105=) c.806T= (p.Met269=) c.290T= (p.Met97=) n.427T= c.956T= (p.Met319=) c.953T= (p.Met318=) c.818T= (p.Met273=) | |
17 | g.77482286G>A | CA401207966 | SEPTIN9 | c.810G>A (p.Met270Ile) c.864G>A (p.Met288Ile) c.372G>A (p.Met124Ile) n.168G>A n.913G>A c.111G>A (p.Met37Ile) c.843G>A (p.Met281Ile) c.528G>A (p.Met176Ile) c.192G>A (p.Met64Ile) c.196-5196G>A (n.196-5196G>A) c.315G>A (p.Met105Ile) c.807G>A (p.Met269Ile) c.291G>A (p.Met97Ile) n.428G>A c.957G>A (p.Met319Ile) c.954G>A (p.Met318Ile) c.819G>A (p.Met273Ile) | |
17 | g.77482286G>C | CA401207967 | SEPTIN9 | c.810G>C (p.Met270Ile) c.864G>C (p.Met288Ile) c.372G>C (p.Met124Ile) n.168G>C n.913G>C c.111G>C (p.Met37Ile) c.843G>C (p.Met281Ile) c.528G>C (p.Met176Ile) c.192G>C (p.Met64Ile) c.196-5196G>C (n.196-5196G>C) c.315G>C (p.Met105Ile) c.807G>C (p.Met269Ile) c.291G>C (p.Met97Ile) n.428G>C c.957G>C (p.Met319Ile) c.954G>C (p.Met318Ile) c.819G>C (p.Met273Ile) | |
17 | g.77482286G>T | CA401207968 | SEPTIN9 | c.810G>T (p.Met270Ile) c.864G>T (p.Met288Ile) c.372G>T (p.Met124Ile) n.168G>T n.913G>T c.111G>T (p.Met37Ile) c.843G>T (p.Met281Ile) c.528G>T (p.Met176Ile) c.192G>T (p.Met64Ile) c.196-5196G>T (n.196-5196G>T) c.315G>T (p.Met105Ile) c.807G>T (p.Met269Ile) c.291G>T (p.Met97Ile) n.428G>T c.957G>T (p.Met319Ile) c.954G>T (p.Met318Ile) c.819G>T (p.Met273Ile) | |
17 | g.77482287C>A | CA401207970 | SEPTIN9 | c.811C>A (p.Arg271Ser) c.865C>A (p.Arg289Ser) c.373C>A (p.Arg125Ser) n.169C>A n.914C>A c.112C>A (p.Arg38Ser) c.844C>A (p.Arg282Ser) c.529C>A (p.Arg177Ser) c.193C>A (p.Arg65Ser) c.196-5195C>A (n.196-5195C>A) c.316C>A (p.Arg106Ser) c.808C>A (p.Arg270Ser) c.292C>A (p.Arg98Ser) n.429C>A c.958C>A (p.Arg320Ser) c.955C>A (p.Arg319Ser) c.820C>A (p.Arg274Ser) | |
17 | g.77482287C= | CA2276500449 | SEPTIN9 | c.811C= (p.Arg271=) c.865C= (p.Arg289=) c.373C= (p.Arg125=) n.169C= n.914C= c.112C= (p.Arg38=) c.844C= (p.Arg282=) c.529C= (p.Arg177=) c.193C= (p.Arg65=) c.196-5195C= (n.196-5195C=) c.316C= (p.Arg106=) c.808C= (p.Arg270=) c.292C= (p.Arg98=) n.429C= c.958C= (p.Arg320=) c.955C= (p.Arg319=) c.820C= (p.Arg274=) | |
17 | g.77482287C>G | CA401207971 | SEPTIN9 | c.811C>G (p.Arg271Gly) c.865C>G (p.Arg289Gly) c.373C>G (p.Arg125Gly) n.169C>G n.914C>G c.112C>G (p.Arg38Gly) c.844C>G (p.Arg282Gly) c.529C>G (p.Arg177Gly) c.193C>G (p.Arg65Gly) c.196-5195C>G (n.196-5195C>G) c.316C>G (p.Arg106Gly) c.808C>G (p.Arg270Gly) c.292C>G (p.Arg98Gly) n.429C>G c.958C>G (p.Arg320Gly) c.955C>G (p.Arg319Gly) c.820C>G (p.Arg274Gly) | |
17 | g.77482287C>T | CA401207969 | SEPTIN9 | c.811C>T (p.Arg271Cys) c.865C>T (p.Arg289Cys) c.373C>T (p.Arg125Cys) n.169C>T n.914C>T c.112C>T (p.Arg38Cys) c.844C>T (p.Arg282Cys) c.529C>T (p.Arg177Cys) c.193C>T (p.Arg65Cys) c.196-5195C>T (n.196-5195C>T) c.316C>T (p.Arg106Cys) c.808C>T (p.Arg270Cys) c.292C>T (p.Arg98Cys) n.429C>T c.958C>T (p.Arg320Cys) c.955C>T (p.Arg319Cys) c.820C>T (p.Arg274Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482288G>A | CA270926 | SEPTIN9 | c.812G>A (p.Arg271His) c.866G>A (p.Arg289His) c.374G>A (p.Arg125His) n.170G>A n.915G>A c.113G>A (p.Arg38His) c.845G>A (p.Arg282His) c.530G>A (p.Arg177His) c.194G>A (p.Arg65His) c.196-5194G>A (n.196-5194G>A) c.317G>A (p.Arg106His) c.809G>A (p.Arg270His) c.293G>A (p.Arg98His) n.430G>A c.959G>A (p.Arg320His) c.956G>A (p.Arg319His) c.821G>A (p.Arg274His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482288G>C | CA401207972 | SEPTIN9 | c.812G>C (p.Arg271Pro) c.866G>C (p.Arg289Pro) c.374G>C (p.Arg125Pro) n.170G>C n.915G>C c.113G>C (p.Arg38Pro) c.845G>C (p.Arg282Pro) c.530G>C (p.Arg177Pro) c.194G>C (p.Arg65Pro) c.196-5194G>C (n.196-5194G>C) c.317G>C (p.Arg106Pro) c.809G>C (p.Arg270Pro) c.293G>C (p.Arg98Pro) n.430G>C c.959G>C (p.Arg320Pro) c.956G>C (p.Arg319Pro) c.821G>C (p.Arg274Pro) | |
17 | g.77482288G= | CA2276500450 | SEPTIN9 | c.812G= (p.Arg271=) c.866G= (p.Arg289=) c.374G= (p.Arg125=) n.170G= n.915G= c.113G= (p.Arg38=) c.845G= (p.Arg282=) c.530G= (p.Arg177=) c.194G= (p.Arg65=) c.196-5194G= (n.196-5194G=) c.317G= (p.Arg106=) c.809G= (p.Arg270=) c.293G= (p.Arg98=) n.430G= c.959G= (p.Arg320=) c.956G= (p.Arg319=) c.821G= (p.Arg274=) | |
17 | g.77482288G>T | CA401207973 | SEPTIN9 | c.812G>T (p.Arg271Leu) c.866G>T (p.Arg289Leu) c.374G>T (p.Arg125Leu) n.170G>T n.915G>T c.113G>T (p.Arg38Leu) c.845G>T (p.Arg282Leu) c.530G>T (p.Arg177Leu) c.194G>T (p.Arg65Leu) c.196-5194G>T (n.196-5194G>T) c.317G>T (p.Arg106Leu) c.809G>T (p.Arg270Leu) c.293G>T (p.Arg98Leu) n.430G>T c.959G>T (p.Arg320Leu) c.956G>T (p.Arg319Leu) c.821G>T (p.Arg274Leu) | gnomAD v4 |
17 | g.77482289C>A | CA501952137 | SEPTIN9 | c.813C>A (p.Arg271=) c.867C>A (p.Arg289=) c.375C>A (p.Arg125=) n.171C>A n.916C>A c.114C>A (p.Arg38=) c.846C>A (p.Arg282=) c.531C>A (p.Arg177=) c.195C>A (p.Arg65=) c.196-5193C>A (n.196-5193C>A) c.318C>A (p.Arg106=) c.810C>A (p.Arg270=) c.294C>A (p.Arg98=) n.431C>A c.960C>A (p.Arg320=) c.957C>A (p.Arg319=) c.822C>A (p.Arg274=) | |
17 | g.77482289C>G | CA501952138 | SEPTIN9 | c.813C>G (p.Arg271=) c.867C>G (p.Arg289=) c.375C>G (p.Arg125=) n.171C>G n.916C>G c.114C>G (p.Arg38=) c.846C>G (p.Arg282=) c.531C>G (p.Arg177=) c.195C>G (p.Arg65=) c.196-5193C>G (n.196-5193C>G) c.318C>G (p.Arg106=) c.810C>G (p.Arg270=) c.294C>G (p.Arg98=) n.431C>G c.960C>G (p.Arg320=) c.957C>G (p.Arg319=) c.822C>G (p.Arg274=) | gnomAD v4 |
17 | g.77482289C>T | CA501952139 | SEPTIN9 | c.813C>T (p.Arg271=) c.867C>T (p.Arg289=) c.375C>T (p.Arg125=) n.171C>T n.916C>T c.114C>T (p.Arg38=) c.846C>T (p.Arg282=) c.531C>T (p.Arg177=) c.195C>T (p.Arg65=) c.196-5193C>T (n.196-5193C>T) c.318C>T (p.Arg106=) c.810C>T (p.Arg270=) c.294C>T (p.Arg98=) n.431C>T c.960C>T (p.Arg320=) c.957C>T (p.Arg319=) c.822C>T (p.Arg274=) | |
17 | g.77482290C>A | CA501952140 | SEPTIN9 | c.814C>A (p.Arg272=) c.868C>A (p.Arg290=) c.376C>A (p.Arg126=) n.172C>A n.917C>A c.115C>A (p.Arg39=) c.847C>A (p.Arg283=) c.532C>A (p.Arg178=) c.196C>A (p.Arg66=) c.196-5192C>A (n.196-5192C>A) c.319C>A (p.Arg107=) c.811C>A (p.Arg271=) c.295C>A (p.Arg99=) n.432C>A c.961C>A (p.Arg321=) c.958C>A (p.Arg320=) c.823C>A (p.Arg275=) | |
17 | g.77482290C= | CA2276500451 | SEPTIN9 | c.814C= (p.Arg272=) c.868C= (p.Arg290=) c.376C= (p.Arg126=) n.172C= n.917C= c.115C= (p.Arg39=) c.847C= (p.Arg283=) c.532C= (p.Arg178=) c.196C= (p.Arg66=) c.196-5192C= (n.196-5192C=) c.319C= (p.Arg107=) c.811C= (p.Arg271=) c.295C= (p.Arg99=) n.432C= c.961C= (p.Arg321=) c.958C= (p.Arg320=) c.823C= (p.Arg275=) | |
17 | g.77482290C>G | CA401207974 | SEPTIN9 | c.814C>G (p.Arg272Gly) c.868C>G (p.Arg290Gly) c.376C>G (p.Arg126Gly) n.172C>G n.917C>G c.115C>G (p.Arg39Gly) c.847C>G (p.Arg283Gly) c.532C>G (p.Arg178Gly) c.196C>G (p.Arg66Gly) c.196-5192C>G (n.196-5192C>G) c.319C>G (p.Arg107Gly) c.811C>G (p.Arg271Gly) c.295C>G (p.Arg99Gly) n.432C>G c.961C>G (p.Arg321Gly) c.958C>G (p.Arg320Gly) c.823C>G (p.Arg275Gly) | |
17 | g.77482290C>T | CA8793542 | SEPTIN9 | c.814C>T (p.Arg272Trp) c.868C>T (p.Arg290Trp) c.376C>T (p.Arg126Trp) n.172C>T n.917C>T c.115C>T (p.Arg39Trp) c.847C>T (p.Arg283Trp) c.532C>T (p.Arg178Trp) c.196C>T (p.Arg66Trp) c.196-5192C>T (n.196-5192C>T) c.319C>T (p.Arg107Trp) c.811C>T (p.Arg271Trp) c.295C>T (p.Arg99Trp) n.432C>T c.961C>T (p.Arg321Trp) c.958C>T (p.Arg320Trp) c.823C>T (p.Arg275Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482291G>A | CA8793543 | SEPTIN9 | c.815G>A (p.Arg272Gln) c.869G>A (p.Arg290Gln) c.377G>A (p.Arg126Gln) n.173G>A n.918G>A c.116G>A (p.Arg39Gln) c.848G>A (p.Arg283Gln) c.533G>A (p.Arg178Gln) c.197G>A (p.Arg66Gln) c.196-5191G>A (n.196-5191G>A) c.320G>A (p.Arg107Gln) c.812G>A (p.Arg271Gln) c.296G>A (p.Arg99Gln) n.433G>A c.962G>A (p.Arg321Gln) c.959G>A (p.Arg320Gln) c.824G>A (p.Arg275Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482291G>C | CA401207975 | SEPTIN9 | c.815G>C (p.Arg272Pro) c.869G>C (p.Arg290Pro) c.377G>C (p.Arg126Pro) n.173G>C n.918G>C c.116G>C (p.Arg39Pro) c.848G>C (p.Arg283Pro) c.533G>C (p.Arg178Pro) c.197G>C (p.Arg66Pro) c.196-5191G>C (n.196-5191G>C) c.320G>C (p.Arg107Pro) c.812G>C (p.Arg271Pro) c.296G>C (p.Arg99Pro) n.433G>C c.962G>C (p.Arg321Pro) c.959G>C (p.Arg320Pro) c.824G>C (p.Arg275Pro) | |
17 | g.77482291G= | CA2276500452 | SEPTIN9 | c.815G= (p.Arg272=) c.869G= (p.Arg290=) c.377G= (p.Arg126=) n.173G= n.918G= c.116G= (p.Arg39=) c.848G= (p.Arg283=) c.533G= (p.Arg178=) c.197G= (p.Arg66=) c.196-5191G= (n.196-5191G=) c.320G= (p.Arg107=) c.812G= (p.Arg271=) c.296G= (p.Arg99=) n.433G= c.962G= (p.Arg321=) c.959G= (p.Arg320=) c.824G= (p.Arg275=) | |
17 | g.77482291G>T | CA401207976 | SEPTIN9 | c.815G>T (p.Arg272Leu) c.869G>T (p.Arg290Leu) c.377G>T (p.Arg126Leu) n.173G>T n.918G>T c.116G>T (p.Arg39Leu) c.848G>T (p.Arg283Leu) c.533G>T (p.Arg178Leu) c.197G>T (p.Arg66Leu) c.196-5191G>T (n.196-5191G>T) c.320G>T (p.Arg107Leu) c.812G>T (p.Arg271Leu) c.296G>T (p.Arg99Leu) n.433G>T c.962G>T (p.Arg321Leu) c.959G>T (p.Arg320Leu) c.824G>T (p.Arg275Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.77482292G>A | CA8793544 | SEPTIN9 | c.816G>A (p.Arg272=) c.870G>A (p.Arg290=) c.378G>A (p.Arg126=) n.174G>A n.919G>A c.117G>A (p.Arg39=) c.849G>A (p.Arg283=) c.534G>A (p.Arg178=) c.198G>A (p.Arg66=) c.196-5190G>A (n.196-5190G>A) c.321G>A (p.Arg107=) c.813G>A (p.Arg271=) c.297G>A (p.Arg99=) n.434G>A c.963G>A (p.Arg321=) c.960G>A (p.Arg320=) c.825G>A (p.Arg275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482292G>C | CA501952142 | SEPTIN9 | c.816G>C (p.Arg272=) c.870G>C (p.Arg290=) c.378G>C (p.Arg126=) n.174G>C n.919G>C c.117G>C (p.Arg39=) c.849G>C (p.Arg283=) c.534G>C (p.Arg178=) c.198G>C (p.Arg66=) c.196-5190G>C (n.196-5190G>C) c.321G>C (p.Arg107=) c.813G>C (p.Arg271=) c.297G>C (p.Arg99=) n.434G>C c.963G>C (p.Arg321=) c.960G>C (p.Arg320=) c.825G>C (p.Arg275=) | gnomAD v4 |
17 | g.77482292G= | CA2276500453 | SEPTIN9 | c.816G= (p.Arg272=) c.870G= (p.Arg290=) c.378G= (p.Arg126=) n.174G= n.919G= c.117G= (p.Arg39=) c.849G= (p.Arg283=) c.534G= (p.Arg178=) c.198G= (p.Arg66=) c.196-5190G= (n.196-5190G=) c.321G= (p.Arg107=) c.813G= (p.Arg271=) c.297G= (p.Arg99=) n.434G= c.963G= (p.Arg321=) c.960G= (p.Arg320=) c.825G= (p.Arg275=) | |
17 | g.77482292G>T | CA501952141 | SEPTIN9 | c.816G>T (p.Arg272=) c.870G>T (p.Arg290=) c.378G>T (p.Arg126=) n.174G>T n.919G>T c.117G>T (p.Arg39=) c.849G>T (p.Arg283=) c.534G>T (p.Arg178=) c.198G>T (p.Arg66=) c.196-5190G>T (n.196-5190G>T) c.321G>T (p.Arg107=) c.813G>T (p.Arg271=) c.297G>T (p.Arg99=) n.434G>T c.963G>T (p.Arg321=) c.960G>T (p.Arg320=) c.825G>T (p.Arg275=) | |
17 | g.77482293A>C | CA401207977 | SEPTIN9 | c.817A>C (p.Lys273Gln) c.871A>C (p.Lys291Gln) c.379A>C (p.Lys127Gln) n.175A>C n.920A>C c.118A>C (p.Lys40Gln) c.850A>C (p.Lys284Gln) c.535A>C (p.Lys179Gln) c.199A>C (p.Lys67Gln) c.196-5189A>C (n.196-5189A>C) c.322A>C (p.Lys108Gln) c.814A>C (p.Lys272Gln) c.298A>C (p.Lys100Gln) n.435A>C c.964A>C (p.Lys322Gln) c.961A>C (p.Lys321Gln) c.826A>C (p.Lys276Gln) | |
17 | g.77482293A>G | CA401207979 | SEPTIN9 | c.817A>G (p.Lys273Glu) c.871A>G (p.Lys291Glu) c.379A>G (p.Lys127Glu) n.175A>G n.920A>G c.118A>G (p.Lys40Glu) c.850A>G (p.Lys284Glu) c.535A>G (p.Lys179Glu) c.199A>G (p.Lys67Glu) c.196-5189A>G (n.196-5189A>G) c.322A>G (p.Lys108Glu) c.814A>G (p.Lys272Glu) c.298A>G (p.Lys100Glu) n.435A>G c.964A>G (p.Lys322Glu) c.961A>G (p.Lys321Glu) c.826A>G (p.Lys276Glu) | ClinVar |
17 | g.77482293A>T | CA401207978 | SEPTIN9 | c.817A>T (p.Lys273Ter) c.871A>T (p.Lys291Ter) c.379A>T (p.Lys127Ter) n.175A>T n.920A>T c.118A>T (p.Lys40Ter) c.850A>T (p.Lys284Ter) c.535A>T (p.Lys179Ter) c.199A>T (p.Lys67Ter) c.196-5189A>T (n.196-5189A>T) c.322A>T (p.Lys108Ter) c.814A>T (p.Lys272Ter) c.298A>T (p.Lys100Ter) n.435A>T c.964A>T (p.Lys322Ter) c.961A>T (p.Lys321Ter) c.826A>T (p.Lys276Ter) | |
17 | g.77482294A>C | CA401207980 | SEPTIN9 | c.818A>C (p.Lys273Thr) c.872A>C (p.Lys291Thr) c.380A>C (p.Lys127Thr) n.176A>C n.921A>C c.119A>C (p.Lys40Thr) c.851A>C (p.Lys284Thr) c.536A>C (p.Lys179Thr) c.200A>C (p.Lys67Thr) c.196-5188A>C (n.196-5188A>C) c.323A>C (p.Lys108Thr) c.815A>C (p.Lys272Thr) c.299A>C (p.Lys100Thr) n.436A>C c.965A>C (p.Lys322Thr) c.962A>C (p.Lys321Thr) c.827A>C (p.Lys276Thr) | COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482294A>G | CA401207981 | SEPTIN9 | c.818A>G (p.Lys273Arg) c.872A>G (p.Lys291Arg) c.380A>G (p.Lys127Arg) n.176A>G n.921A>G c.119A>G (p.Lys40Arg) c.851A>G (p.Lys284Arg) c.536A>G (p.Lys179Arg) c.200A>G (p.Lys67Arg) c.196-5188A>G (n.196-5188A>G) c.323A>G (p.Lys108Arg) c.815A>G (p.Lys272Arg) c.299A>G (p.Lys100Arg) n.436A>G c.965A>G (p.Lys322Arg) c.962A>G (p.Lys321Arg) c.827A>G (p.Lys276Arg) | |
17 | g.77482294A>T | CA401207982 | SEPTIN9 | c.818A>T (p.Lys273Met) c.872A>T (p.Lys291Met) c.380A>T (p.Lys127Met) n.176A>T n.921A>T c.119A>T (p.Lys40Met) c.851A>T (p.Lys284Met) c.536A>T (p.Lys179Met) c.200A>T (p.Lys67Met) c.196-5188A>T (n.196-5188A>T) c.323A>T (p.Lys108Met) c.815A>T (p.Lys272Met) c.299A>T (p.Lys100Met) n.436A>T c.965A>T (p.Lys322Met) c.962A>T (p.Lys321Met) c.827A>T (p.Lys276Met) | |
17 | g.77482295G>A | CA501952143 | SEPTIN9 | c.819G>A (p.Lys273=) c.873G>A (p.Lys291=) c.381G>A (p.Lys127=) n.177G>A n.922G>A c.120G>A (p.Lys40=) c.852G>A (p.Lys284=) c.537G>A (p.Lys179=) c.201G>A (p.Lys67=) c.196-5187G>A (n.196-5187G>A) c.324G>A (p.Lys108=) c.816G>A (p.Lys272=) c.300G>A (p.Lys100=) n.437G>A c.966G>A (p.Lys322=) c.963G>A (p.Lys321=) c.828G>A (p.Lys276=) | ClinVar gnomAD v4 |
17 | g.77482295G>C | CA401207983 | SEPTIN9 | c.819G>C (p.Lys273Asn) c.873G>C (p.Lys291Asn) c.381G>C (p.Lys127Asn) n.177G>C n.922G>C c.120G>C (p.Lys40Asn) c.852G>C (p.Lys284Asn) c.537G>C (p.Lys179Asn) c.201G>C (p.Lys67Asn) c.196-5187G>C (n.196-5187G>C) c.324G>C (p.Lys108Asn) c.816G>C (p.Lys272Asn) c.300G>C (p.Lys100Asn) n.437G>C c.966G>C (p.Lys322Asn) c.963G>C (p.Lys321Asn) c.828G>C (p.Lys276Asn) | |
17 | g.77482295G>T | CA401207984 | SEPTIN9 | c.819G>T (p.Lys273Asn) c.873G>T (p.Lys291Asn) c.381G>T (p.Lys127Asn) n.177G>T n.922G>T c.120G>T (p.Lys40Asn) c.852G>T (p.Lys284Asn) c.537G>T (p.Lys179Asn) c.201G>T (p.Lys67Asn) c.196-5187G>T (n.196-5187G>T) c.324G>T (p.Lys108Asn) c.816G>T (p.Lys272Asn) c.300G>T (p.Lys100Asn) n.437G>T c.966G>T (p.Lys322Asn) c.963G>T (p.Lys321Asn) c.828G>T (p.Lys276Asn) | gnomAD v4 |
17 | g.77482296G>A | CA401207985 | SEPTIN9 | c.820G>A (p.Ala274Thr) c.874G>A (p.Ala292Thr) c.382G>A (p.Ala128Thr) n.178G>A n.923G>A c.121G>A (p.Ala41Thr) c.853G>A (p.Ala285Thr) c.538G>A (p.Ala180Thr) c.202G>A (p.Ala68Thr) c.196-5186G>A (n.196-5186G>A) c.325G>A (p.Ala109Thr) c.817G>A (p.Ala273Thr) c.301G>A (p.Ala101Thr) n.438G>A c.967G>A (p.Ala323Thr) c.964G>A (p.Ala322Thr) c.829G>A (p.Ala277Thr) | gnomAD v4 |
17 | g.77482296G>C | CA401207987 | SEPTIN9 | c.820G>C (p.Ala274Pro) c.874G>C (p.Ala292Pro) c.382G>C (p.Ala128Pro) n.178G>C n.923G>C c.121G>C (p.Ala41Pro) c.853G>C (p.Ala285Pro) c.538G>C (p.Ala180Pro) c.202G>C (p.Ala68Pro) c.196-5186G>C (n.196-5186G>C) c.325G>C (p.Ala109Pro) c.817G>C (p.Ala273Pro) c.301G>C (p.Ala101Pro) n.438G>C c.967G>C (p.Ala323Pro) c.964G>C (p.Ala322Pro) c.829G>C (p.Ala277Pro) | |
17 | g.77482296G>T | CA401207986 | SEPTIN9 | c.820G>T (p.Ala274Ser) c.874G>T (p.Ala292Ser) c.382G>T (p.Ala128Ser) n.178G>T n.923G>T c.121G>T (p.Ala41Ser) c.853G>T (p.Ala285Ser) c.538G>T (p.Ala180Ser) c.202G>T (p.Ala68Ser) c.196-5186G>T (n.196-5186G>T) c.325G>T (p.Ala109Ser) c.817G>T (p.Ala273Ser) c.301G>T (p.Ala101Ser) n.438G>T c.967G>T (p.Ala323Ser) c.964G>T (p.Ala322Ser) c.829G>T (p.Ala277Ser) | |
17 | g.77482297C>A | CA401207988 | SEPTIN9 | c.821C>A (p.Ala274Asp) c.875C>A (p.Ala292Asp) c.383C>A (p.Ala128Asp) n.179C>A n.924C>A c.122C>A (p.Ala41Asp) c.854C>A (p.Ala285Asp) c.539C>A (p.Ala180Asp) c.203C>A (p.Ala68Asp) c.196-5185C>A (n.196-5185C>A) c.326C>A (p.Ala109Asp) c.818C>A (p.Ala273Asp) c.302C>A (p.Ala101Asp) n.439C>A c.968C>A (p.Ala323Asp) c.965C>A (p.Ala322Asp) c.830C>A (p.Ala277Asp) | |
17 | g.77482297C>G | CA401207989 | SEPTIN9 | c.821C>G (p.Ala274Gly) c.875C>G (p.Ala292Gly) c.383C>G (p.Ala128Gly) n.179C>G n.924C>G c.122C>G (p.Ala41Gly) c.854C>G (p.Ala285Gly) c.539C>G (p.Ala180Gly) c.203C>G (p.Ala68Gly) c.196-5185C>G (n.196-5185C>G) c.326C>G (p.Ala109Gly) c.818C>G (p.Ala273Gly) c.302C>G (p.Ala101Gly) n.439C>G c.968C>G (p.Ala323Gly) c.965C>G (p.Ala322Gly) c.830C>G (p.Ala277Gly) | |
17 | g.77482297C>T | CA401207990 | SEPTIN9 | c.821C>T (p.Ala274Val) c.875C>T (p.Ala292Val) c.383C>T (p.Ala128Val) n.179C>T n.924C>T c.122C>T (p.Ala41Val) c.854C>T (p.Ala285Val) c.539C>T (p.Ala180Val) c.203C>T (p.Ala68Val) c.196-5185C>T (n.196-5185C>T) c.326C>T (p.Ala109Val) c.818C>T (p.Ala273Val) c.302C>T (p.Ala101Val) n.439C>T c.968C>T (p.Ala323Val) c.965C>T (p.Ala322Val) c.830C>T (p.Ala277Val) | |
17 | g.77482298C>A | CA501952144 | SEPTIN9 | c.822C>A (p.Ala274=) c.876C>A (p.Ala292=) c.384C>A (p.Ala128=) n.180C>A n.925C>A c.123C>A (p.Ala41=) c.855C>A (p.Ala285=) c.540C>A (p.Ala180=) c.204C>A (p.Ala68=) c.196-5184C>A (n.196-5184C>A) c.327C>A (p.Ala109=) c.819C>A (p.Ala273=) c.303C>A (p.Ala101=) n.440C>A c.969C>A (p.Ala323=) c.966C>A (p.Ala322=) c.831C>A (p.Ala277=) | |
17 | g.77482298C>G | CA501952145 | SEPTIN9 | c.822C>G (p.Ala274=) c.876C>G (p.Ala292=) c.384C>G (p.Ala128=) n.180C>G n.925C>G c.123C>G (p.Ala41=) c.855C>G (p.Ala285=) c.540C>G (p.Ala180=) c.204C>G (p.Ala68=) c.196-5184C>G (n.196-5184C>G) c.327C>G (p.Ala109=) c.819C>G (p.Ala273=) c.303C>G (p.Ala101=) n.440C>G c.969C>G (p.Ala323=) c.966C>G (p.Ala322=) c.831C>G (p.Ala277=) | |
17 | g.77482298C>T | CA501952146 | SEPTIN9 | c.822C>T (p.Ala274=) c.876C>T (p.Ala292=) c.384C>T (p.Ala128=) n.180C>T n.925C>T c.123C>T (p.Ala41=) c.855C>T (p.Ala285=) c.540C>T (p.Ala180=) c.204C>T (p.Ala68=) c.196-5184C>T (n.196-5184C>T) c.327C>T (p.Ala109=) c.819C>T (p.Ala273=) c.303C>T (p.Ala101=) n.440C>T c.969C>T (p.Ala323=) c.966C>T (p.Ala322=) c.831C>T (p.Ala277=) | |
17 | g.77482299A>C | CA401207991 | SEPTIN9 | c.823A>C (p.Met275Leu) c.877A>C (p.Met293Leu) c.385A>C (p.Met129Leu) n.181A>C n.926A>C c.124A>C (p.Met42Leu) c.856A>C (p.Met286Leu) c.541A>C (p.Met181Leu) c.205A>C (p.Met69Leu) c.196-5183A>C (n.196-5183A>C) c.328A>C (p.Met110Leu) c.820A>C (p.Met274Leu) c.304A>C (p.Met102Leu) n.441A>C c.970A>C (p.Met324Leu) c.967A>C (p.Met323Leu) c.832A>C (p.Met278Leu) | |
17 | g.77482299A>G | CA401207992 | SEPTIN9 | c.823A>G (p.Met275Val) c.877A>G (p.Met293Val) c.385A>G (p.Met129Val) n.181A>G n.926A>G c.124A>G (p.Met42Val) c.856A>G (p.Met286Val) c.541A>G (p.Met181Val) c.205A>G (p.Met69Val) c.196-5183A>G (n.196-5183A>G) c.328A>G (p.Met110Val) c.820A>G (p.Met274Val) c.304A>G (p.Met102Val) n.441A>G c.970A>G (p.Met324Val) c.967A>G (p.Met323Val) c.832A>G (p.Met278Val) | gnomAD v4 |
17 | g.77482299A>T | CA401207993 | SEPTIN9 | c.823A>T (p.Met275Leu) c.877A>T (p.Met293Leu) c.385A>T (p.Met129Leu) n.181A>T n.926A>T c.124A>T (p.Met42Leu) c.856A>T (p.Met286Leu) c.541A>T (p.Met181Leu) c.205A>T (p.Met69Leu) c.196-5183A>T (n.196-5183A>T) c.328A>T (p.Met110Leu) c.820A>T (p.Met274Leu) c.304A>T (p.Met102Leu) n.441A>T c.970A>T (p.Met324Leu) c.967A>T (p.Met323Leu) c.832A>T (p.Met278Leu) | |
17 | g.77482300T>A | CA401207994 | SEPTIN9 | c.824T>A (p.Met275Lys) c.878T>A (p.Met293Lys) c.386T>A (p.Met129Lys) n.182T>A n.927T>A c.125T>A (p.Met42Lys) c.857T>A (p.Met286Lys) c.542T>A (p.Met181Lys) c.206T>A (p.Met69Lys) c.196-5182T>A (n.196-5182T>A) c.329T>A (p.Met110Lys) c.821T>A (p.Met274Lys) c.305T>A (p.Met102Lys) n.442T>A c.971T>A (p.Met324Lys) c.968T>A (p.Met323Lys) c.833T>A (p.Met278Lys) | |
17 | g.77482300T>C | CA401207995 | SEPTIN9 | c.824T>C (p.Met275Thr) c.878T>C (p.Met293Thr) c.386T>C (p.Met129Thr) n.182T>C n.927T>C c.125T>C (p.Met42Thr) c.857T>C (p.Met286Thr) c.542T>C (p.Met181Thr) c.206T>C (p.Met69Thr) c.196-5182T>C (n.196-5182T>C) c.329T>C (p.Met110Thr) c.821T>C (p.Met274Thr) c.305T>C (p.Met102Thr) n.442T>C c.971T>C (p.Met324Thr) c.968T>C (p.Met323Thr) c.833T>C (p.Met278Thr) | |
17 | g.77482300T>G | CA401207996 | SEPTIN9 | c.824T>G (p.Met275Arg) c.878T>G (p.Met293Arg) c.386T>G (p.Met129Arg) n.182T>G n.927T>G c.125T>G (p.Met42Arg) c.857T>G (p.Met286Arg) c.542T>G (p.Met181Arg) c.206T>G (p.Met69Arg) c.196-5182T>G (n.196-5182T>G) c.329T>G (p.Met110Arg) c.821T>G (p.Met274Arg) c.305T>G (p.Met102Arg) n.442T>G c.971T>G (p.Met324Arg) c.968T>G (p.Met323Arg) c.833T>G (p.Met278Arg) | |
17 | g.77482301G>A | CA401207997 | SEPTIN9 | c.825G>A (p.Met275Ile) c.879G>A (p.Met293Ile) c.387G>A (p.Met129Ile) n.183G>A n.928G>A c.126G>A (p.Met42Ile) c.858G>A (p.Met286Ile) c.543G>A (p.Met181Ile) c.207G>A (p.Met69Ile) c.196-5181G>A (n.196-5181G>A) c.330G>A (p.Met110Ile) c.822G>A (p.Met274Ile) c.306G>A (p.Met102Ile) n.443G>A c.972G>A (p.Met324Ile) c.969G>A (p.Met323Ile) c.834G>A (p.Met278Ile) | gnomAD v4 |
17 | g.77482301G>C | CA401207998 | SEPTIN9 | c.825G>C (p.Met275Ile) c.879G>C (p.Met293Ile) c.387G>C (p.Met129Ile) n.183G>C n.928G>C c.126G>C (p.Met42Ile) c.858G>C (p.Met286Ile) c.543G>C (p.Met181Ile) c.207G>C (p.Met69Ile) c.196-5181G>C (n.196-5181G>C) c.330G>C (p.Met110Ile) c.822G>C (p.Met274Ile) c.306G>C (p.Met102Ile) n.443G>C c.972G>C (p.Met324Ile) c.969G>C (p.Met323Ile) c.834G>C (p.Met278Ile) | |
17 | g.77482301G>T | CA401207999 | SEPTIN9 | c.825G>T (p.Met275Ile) c.879G>T (p.Met293Ile) c.387G>T (p.Met129Ile) n.183G>T n.928G>T c.126G>T (p.Met42Ile) c.858G>T (p.Met286Ile) c.543G>T (p.Met181Ile) c.207G>T (p.Met69Ile) c.196-5181G>T (n.196-5181G>T) c.330G>T (p.Met110Ile) c.822G>T (p.Met274Ile) c.306G>T (p.Met102Ile) n.443G>T c.972G>T (p.Met324Ile) c.969G>T (p.Met323Ile) c.834G>T (p.Met278Ile) | |
17 | g.77482302A>C | CA401208000 | SEPTIN9 | c.826A>C (p.Lys276Gln) c.880A>C (p.Lys294Gln) c.388A>C (p.Lys130Gln) n.184A>C n.929A>C c.127A>C (p.Lys43Gln) c.859A>C (p.Lys287Gln) c.544A>C (p.Lys182Gln) c.208A>C (p.Lys70Gln) c.196-5180A>C (n.196-5180A>C) c.331A>C (p.Lys111Gln) c.823A>C (p.Lys275Gln) c.307A>C (p.Lys103Gln) n.444A>C c.973A>C (p.Lys325Gln) c.970A>C (p.Lys324Gln) c.835A>C (p.Lys279Gln) | |
17 | g.77482302A>G | CA401208002 | SEPTIN9 | c.826A>G (p.Lys276Glu) c.880A>G (p.Lys294Glu) c.388A>G (p.Lys130Glu) n.184A>G n.929A>G c.127A>G (p.Lys43Glu) c.859A>G (p.Lys287Glu) c.544A>G (p.Lys182Glu) c.208A>G (p.Lys70Glu) c.196-5180A>G (n.196-5180A>G) c.331A>G (p.Lys111Glu) c.823A>G (p.Lys275Glu) c.307A>G (p.Lys103Glu) n.444A>G c.973A>G (p.Lys325Glu) c.970A>G (p.Lys324Glu) c.835A>G (p.Lys279Glu) | |
17 | g.77482302A>T | CA401208001 | SEPTIN9 | c.826A>T (p.Lys276Ter) c.880A>T (p.Lys294Ter) c.388A>T (p.Lys130Ter) n.184A>T n.929A>T c.127A>T (p.Lys43Ter) c.859A>T (p.Lys287Ter) c.544A>T (p.Lys182Ter) c.208A>T (p.Lys70Ter) c.196-5180A>T (n.196-5180A>T) c.331A>T (p.Lys111Ter) c.823A>T (p.Lys275Ter) c.307A>T (p.Lys103Ter) n.444A>T c.973A>T (p.Lys325Ter) c.970A>T (p.Lys324Ter) c.835A>T (p.Lys279Ter) | |
17 | g.77482303A>C | CA401208003 | SEPTIN9 | c.827A>C (p.Lys276Thr) c.881A>C (p.Lys294Thr) c.389A>C (p.Lys130Thr) n.185A>C n.930A>C c.128A>C (p.Lys43Thr) c.860A>C (p.Lys287Thr) c.545A>C (p.Lys182Thr) c.209A>C (p.Lys70Thr) c.196-5179A>C (n.196-5179A>C) c.332A>C (p.Lys111Thr) c.824A>C (p.Lys275Thr) c.308A>C (p.Lys103Thr) n.445A>C c.974A>C (p.Lys325Thr) c.971A>C (p.Lys324Thr) c.836A>C (p.Lys279Thr) | |
17 | g.77482303A>G | CA401208004 | SEPTIN9 | c.827A>G (p.Lys276Arg) c.881A>G (p.Lys294Arg) c.389A>G (p.Lys130Arg) n.185A>G n.930A>G c.128A>G (p.Lys43Arg) c.860A>G (p.Lys287Arg) c.545A>G (p.Lys182Arg) c.209A>G (p.Lys70Arg) c.196-5179A>G (n.196-5179A>G) c.332A>G (p.Lys111Arg) c.824A>G (p.Lys275Arg) c.308A>G (p.Lys103Arg) n.445A>G c.974A>G (p.Lys325Arg) c.971A>G (p.Lys324Arg) c.836A>G (p.Lys279Arg) | |
17 | g.77482303A>T | CA401208005 | SEPTIN9 | c.827A>T (p.Lys276Met) c.881A>T (p.Lys294Met) c.389A>T (p.Lys130Met) n.185A>T n.930A>T c.128A>T (p.Lys43Met) c.860A>T (p.Lys287Met) c.545A>T (p.Lys182Met) c.209A>T (p.Lys70Met) c.196-5179A>T (n.196-5179A>T) c.332A>T (p.Lys111Met) c.824A>T (p.Lys275Met) c.308A>T (p.Lys103Met) n.445A>T c.974A>T (p.Lys325Met) c.971A>T (p.Lys324Met) c.836A>T (p.Lys279Met) | |
17 | g.77482304G>A | CA501952147 | SEPTIN9 | c.828G>A (p.Lys276=) c.882G>A (p.Lys294=) c.390G>A (p.Lys130=) n.186G>A n.931G>A c.129G>A (p.Lys43=) c.861G>A (p.Lys287=) c.546G>A (p.Lys182=) c.210G>A (p.Lys70=) c.196-5178G>A (n.196-5178G>A) c.333G>A (p.Lys111=) c.825G>A (p.Lys275=) c.309G>A (p.Lys103=) n.446G>A c.975G>A (p.Lys325=) c.972G>A (p.Lys324=) c.837G>A (p.Lys279=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.77482304G>C | CA401208006 | SEPTIN9 | c.828G>C (p.Lys276Asn) c.882G>C (p.Lys294Asn) c.390G>C (p.Lys130Asn) n.186G>C n.931G>C c.129G>C (p.Lys43Asn) c.861G>C (p.Lys287Asn) c.546G>C (p.Lys182Asn) c.210G>C (p.Lys70Asn) c.196-5178G>C (n.196-5178G>C) c.333G>C (p.Lys111Asn) c.825G>C (p.Lys275Asn) c.309G>C (p.Lys103Asn) n.446G>C c.975G>C (p.Lys325Asn) c.972G>C (p.Lys324Asn) c.837G>C (p.Lys279Asn) | |
17 | g.77482304G= | CA2276500454 | SEPTIN9 | c.828G= (p.Lys276=) c.882G= (p.Lys294=) c.390G= (p.Lys130=) n.186G= n.931G= c.129G= (p.Lys43=) c.861G= (p.Lys287=) c.546G= (p.Lys182=) c.210G= (p.Lys70=) c.196-5178G= (n.196-5178G=) c.333G= (p.Lys111=) c.825G= (p.Lys275=) c.309G= (p.Lys103=) n.446G= c.975G= (p.Lys325=) c.972G= (p.Lys324=) c.837G= (p.Lys279=) | |
17 | g.77482304G>T | CA401208007 | SEPTIN9 | c.828G>T (p.Lys276Asn) c.882G>T (p.Lys294Asn) c.390G>T (p.Lys130Asn) n.186G>T n.931G>T c.129G>T (p.Lys43Asn) c.861G>T (p.Lys287Asn) c.546G>T (p.Lys182Asn) c.210G>T (p.Lys70Asn) c.196-5178G>T (n.196-5178G>T) c.333G>T (p.Lys111Asn) c.825G>T (p.Lys275Asn) c.309G>T (p.Lys103Asn) n.446G>T c.975G>T (p.Lys325Asn) c.972G>T (p.Lys324Asn) c.837G>T (p.Lys279Asn) | |
17 | g.77482305C>A | CA401208008 | SEPTIN9 | c.829C>A (p.Gln277Lys) c.883C>A (p.Gln295Lys) c.391C>A (p.Gln131Lys) n.187C>A n.932C>A c.130C>A (p.Gln44Lys) c.862C>A (p.Gln288Lys) c.547C>A (p.Gln183Lys) c.211C>A (p.Gln71Lys) c.196-5177C>A (n.196-5177C>A) c.334C>A (p.Gln112Lys) c.826C>A (p.Gln276Lys) c.310C>A (p.Gln104Lys) n.447C>A c.976C>A (p.Gln326Lys) c.973C>A (p.Gln325Lys) c.838C>A (p.Gln280Lys) | |
17 | g.77482305C>G | CA401208009 | SEPTIN9 | c.829C>G (p.Gln277Glu) c.883C>G (p.Gln295Glu) c.391C>G (p.Gln131Glu) n.187C>G n.932C>G c.130C>G (p.Gln44Glu) c.862C>G (p.Gln288Glu) c.547C>G (p.Gln183Glu) c.211C>G (p.Gln71Glu) c.196-5177C>G (n.196-5177C>G) c.334C>G (p.Gln112Glu) c.826C>G (p.Gln276Glu) c.310C>G (p.Gln104Glu) n.447C>G c.976C>G (p.Gln326Glu) c.973C>G (p.Gln325Glu) c.838C>G (p.Gln280Glu) | |
17 | g.77482305C>T | CA401208010 | SEPTIN9 | c.829C>T (p.Gln277Ter) c.883C>T (p.Gln295Ter) c.391C>T (p.Gln131Ter) n.187C>T n.932C>T c.130C>T (p.Gln44Ter) c.862C>T (p.Gln288Ter) c.547C>T (p.Gln183Ter) c.211C>T (p.Gln71Ter) c.196-5177C>T (n.196-5177C>T) c.334C>T (p.Gln112Ter) c.826C>T (p.Gln276Ter) c.310C>T (p.Gln104Ter) n.447C>T c.976C>T (p.Gln326Ter) c.973C>T (p.Gln325Ter) c.838C>T (p.Gln280Ter) | gnomAD v4 |
17 | g.77482306A= | CA2276500455 | SEPTIN9 | c.830A= (p.Gln277=) c.884A= (p.Gln295=) c.392A= (p.Gln131=) n.188A= n.933A= c.131A= (p.Gln44=) c.863A= (p.Gln288=) c.548A= (p.Gln183=) c.212A= (p.Gln71=) c.196-5176A= (n.196-5176A=) c.335A= (p.Gln112=) c.827A= (p.Gln276=) c.311A= (p.Gln104=) n.448A= c.977A= (p.Gln326=) c.974A= (p.Gln325=) c.839A= (p.Gln280=) | |
17 | g.77482306A>C | CA401208011 | SEPTIN9 | c.830A>C (p.Gln277Pro) c.884A>C (p.Gln295Pro) c.392A>C (p.Gln131Pro) n.188A>C n.933A>C c.131A>C (p.Gln44Pro) c.863A>C (p.Gln288Pro) c.548A>C (p.Gln183Pro) c.212A>C (p.Gln71Pro) c.196-5176A>C (n.196-5176A>C) c.335A>C (p.Gln112Pro) c.827A>C (p.Gln276Pro) c.311A>C (p.Gln104Pro) n.448A>C c.977A>C (p.Gln326Pro) c.974A>C (p.Gln325Pro) c.839A>C (p.Gln280Pro) | |
17 | g.77482306A>G | CA294293858 | SEPTIN9 | c.830A>G (p.Gln277Arg) c.884A>G (p.Gln295Arg) c.392A>G (p.Gln131Arg) n.188A>G n.933A>G c.131A>G (p.Gln44Arg) c.863A>G (p.Gln288Arg) c.548A>G (p.Gln183Arg) c.212A>G (p.Gln71Arg) c.196-5176A>G (n.196-5176A>G) c.335A>G (p.Gln112Arg) c.827A>G (p.Gln276Arg) c.311A>G (p.Gln104Arg) n.448A>G c.977A>G (p.Gln326Arg) c.974A>G (p.Gln325Arg) c.839A>G (p.Gln280Arg) | dbSNP |
17 | g.77482306A>T | CA401208012 | SEPTIN9 | c.830A>T (p.Gln277Leu) c.884A>T (p.Gln295Leu) c.392A>T (p.Gln131Leu) n.188A>T n.933A>T c.131A>T (p.Gln44Leu) c.863A>T (p.Gln288Leu) c.548A>T (p.Gln183Leu) c.212A>T (p.Gln71Leu) c.196-5176A>T (n.196-5176A>T) c.335A>T (p.Gln112Leu) c.827A>T (p.Gln276Leu) c.311A>T (p.Gln104Leu) n.448A>T c.977A>T (p.Gln326Leu) c.974A>T (p.Gln325Leu) c.839A>T (p.Gln280Leu) | |
17 | g.77482307G>A | CA501952148 | SEPTIN9 | c.831G>A (p.Gln277=) c.885G>A (p.Gln295=) c.393G>A (p.Gln131=) n.189G>A n.934G>A c.132G>A (p.Gln44=) c.864G>A (p.Gln288=) c.549G>A (p.Gln183=) c.213G>A (p.Gln71=) c.196-5175G>A (n.196-5175G>A) c.336G>A (p.Gln112=) c.828G>A (p.Gln276=) c.312G>A (p.Gln104=) n.449G>A c.978G>A (p.Gln326=) c.975G>A (p.Gln325=) c.840G>A (p.Gln280=) | |
17 | g.77482307G>C | CA401208013 | SEPTIN9 | c.831G>C (p.Gln277His) c.885G>C (p.Gln295His) c.393G>C (p.Gln131His) n.189G>C n.934G>C c.132G>C (p.Gln44His) c.864G>C (p.Gln288His) c.549G>C (p.Gln183His) c.213G>C (p.Gln71His) c.196-5175G>C (n.196-5175G>C) c.336G>C (p.Gln112His) c.828G>C (p.Gln276His) c.312G>C (p.Gln104His) n.449G>C c.978G>C (p.Gln326His) c.975G>C (p.Gln325His) c.840G>C (p.Gln280His) | gnomAD v4 |
17 | g.77482307G>T | CA401208014 | SEPTIN9 | c.831G>T (p.Gln277His) c.885G>T (p.Gln295His) c.393G>T (p.Gln131His) n.189G>T n.934G>T c.132G>T (p.Gln44His) c.864G>T (p.Gln288His) c.549G>T (p.Gln183His) c.213G>T (p.Gln71His) c.196-5175G>T (n.196-5175G>T) c.336G>T (p.Gln112His) c.828G>T (p.Gln276His) c.312G>T (p.Gln104His) n.449G>T c.978G>T (p.Gln326His) c.975G>T (p.Gln325His) c.840G>T (p.Gln280His) | |
17 | g.77482308G>A | CA401208017 | SEPTIN9 | c.832G>A (p.Gly278Ser) c.886G>A (p.Gly296Ser) c.394G>A (p.Gly132Ser) n.190G>A n.935G>A c.133G>A (p.Gly45Ser) c.865G>A (p.Gly289Ser) c.550G>A (p.Gly184Ser) c.214G>A (p.Gly72Ser) c.196-5174G>A (n.196-5174G>A) c.337G>A (p.Gly113Ser) c.829G>A (p.Gly277Ser) c.313G>A (p.Gly105Ser) n.450G>A c.979G>A (p.Gly327Ser) c.976G>A (p.Gly326Ser) c.841G>A (p.Gly281Ser) | |
17 | g.77482308G>C | CA401208015 | SEPTIN9 | c.832G>C (p.Gly278Arg) c.886G>C (p.Gly296Arg) c.394G>C (p.Gly132Arg) n.190G>C n.935G>C c.133G>C (p.Gly45Arg) c.865G>C (p.Gly289Arg) c.550G>C (p.Gly184Arg) c.214G>C (p.Gly72Arg) c.196-5174G>C (n.196-5174G>C) c.337G>C (p.Gly113Arg) c.829G>C (p.Gly277Arg) c.313G>C (p.Gly105Arg) n.450G>C c.979G>C (p.Gly327Arg) c.976G>C (p.Gly326Arg) c.841G>C (p.Gly281Arg) | |
17 | g.77482308G>T | CA401208016 | SEPTIN9 | c.832G>T (p.Gly278Cys) c.886G>T (p.Gly296Cys) c.394G>T (p.Gly132Cys) n.190G>T n.935G>T c.133G>T (p.Gly45Cys) c.865G>T (p.Gly289Cys) c.550G>T (p.Gly184Cys) c.214G>T (p.Gly72Cys) c.196-5174G>T (n.196-5174G>T) c.337G>T (p.Gly113Cys) c.829G>T (p.Gly277Cys) c.313G>T (p.Gly105Cys) n.450G>T c.979G>T (p.Gly327Cys) c.976G>T (p.Gly326Cys) c.841G>T (p.Gly281Cys) | |
17 | g.77482309G>A | CA401208018 | SEPTIN9 | c.833G>A (p.Gly278Asp) c.887G>A (p.Gly296Asp) c.395G>A (p.Gly132Asp) n.191G>A n.936G>A c.134G>A (p.Gly45Asp) c.866G>A (p.Gly289Asp) c.551G>A (p.Gly184Asp) c.215G>A (p.Gly72Asp) c.196-5173G>A (n.196-5173G>A) c.338G>A (p.Gly113Asp) c.830G>A (p.Gly277Asp) c.314G>A (p.Gly105Asp) n.451G>A c.980G>A (p.Gly327Asp) c.977G>A (p.Gly326Asp) c.842G>A (p.Gly281Asp) | |
17 | g.77482309G>C | CA401208019 | SEPTIN9 | c.833G>C (p.Gly278Ala) c.887G>C (p.Gly296Ala) c.395G>C (p.Gly132Ala) n.191G>C n.936G>C c.134G>C (p.Gly45Ala) c.866G>C (p.Gly289Ala) c.551G>C (p.Gly184Ala) c.215G>C (p.Gly72Ala) c.196-5173G>C (n.196-5173G>C) c.338G>C (p.Gly113Ala) c.830G>C (p.Gly277Ala) c.314G>C (p.Gly105Ala) n.451G>C c.980G>C (p.Gly327Ala) c.977G>C (p.Gly326Ala) c.842G>C (p.Gly281Ala) | |
17 | g.77482309G= | CA2276500456 | SEPTIN9 | c.833G= (p.Gly278=) c.887G= (p.Gly296=) c.395G= (p.Gly132=) n.191G= n.936G= c.134G= (p.Gly45=) c.866G= (p.Gly289=) c.551G= (p.Gly184=) c.215G= (p.Gly72=) c.196-5173G= (n.196-5173G=) c.338G= (p.Gly113=) c.830G= (p.Gly277=) c.314G= (p.Gly105=) n.451G= c.980G= (p.Gly327=) c.977G= (p.Gly326=) c.842G= (p.Gly281=) | |
17 | g.77482309G>T | CA401208020 | SEPTIN9 | c.833G>T (p.Gly278Val) c.887G>T (p.Gly296Val) c.395G>T (p.Gly132Val) n.191G>T n.936G>T c.134G>T (p.Gly45Val) c.866G>T (p.Gly289Val) c.551G>T (p.Gly184Val) c.215G>T (p.Gly72Val) c.196-5173G>T (n.196-5173G>T) c.338G>T (p.Gly113Val) c.830G>T (p.Gly277Val) c.314G>T (p.Gly105Val) n.451G>T c.980G>T (p.Gly327Val) c.977G>T (p.Gly326Val) c.842G>T (p.Gly281Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.77482310C>A | CA501952149 | SEPTIN9 | c.834C>A (p.Gly278=) c.888C>A (p.Gly296=) c.396C>A (p.Gly132=) n.192C>A n.937C>A c.135C>A (p.Gly45=) c.867C>A (p.Gly289=) c.552C>A (p.Gly184=) c.216C>A (p.Gly72=) c.196-5172C>A (n.196-5172C>A) c.339C>A (p.Gly113=) c.831C>A (p.Gly277=) c.315C>A (p.Gly105=) n.452C>A c.981C>A (p.Gly327=) c.978C>A (p.Gly326=) c.843C>A (p.Gly281=) | |
17 | g.77482310C>G | CA501952150 | SEPTIN9 | c.834C>G (p.Gly278=) c.888C>G (p.Gly296=) c.396C>G (p.Gly132=) n.192C>G n.937C>G c.135C>G (p.Gly45=) c.867C>G (p.Gly289=) c.552C>G (p.Gly184=) c.216C>G (p.Gly72=) c.196-5172C>G (n.196-5172C>G) c.339C>G (p.Gly113=) c.831C>G (p.Gly277=) c.315C>G (p.Gly105=) n.452C>G c.981C>G (p.Gly327=) c.978C>G (p.Gly326=) c.843C>G (p.Gly281=) | |
17 | g.77482310C>T | CA501952151 | SEPTIN9 | c.834C>T (p.Gly278=) c.888C>T (p.Gly296=) c.396C>T (p.Gly132=) n.192C>T n.937C>T c.135C>T (p.Gly45=) c.867C>T (p.Gly289=) c.552C>T (p.Gly184=) c.216C>T (p.Gly72=) c.196-5172C>T (n.196-5172C>T) c.339C>T (p.Gly113=) c.831C>T (p.Gly277=) c.315C>T (p.Gly105=) n.452C>T c.981C>T (p.Gly327=) c.978C>T (p.Gly326=) c.843C>T (p.Gly281=) | |
17 | g.77482311T>A | CA401208021 | SEPTIN9 | c.835T>A (p.Phe279Ile) c.889T>A (p.Phe297Ile) c.397T>A (p.Phe133Ile) n.193T>A n.938T>A c.136T>A (p.Phe46Ile) c.868T>A (p.Phe290Ile) c.553T>A (p.Phe185Ile) c.217T>A (p.Phe73Ile) c.196-5171T>A (n.196-5171T>A) c.340T>A (p.Phe114Ile) c.832T>A (p.Phe278Ile) c.316T>A (p.Phe106Ile) n.453T>A c.982T>A (p.Phe328Ile) c.979T>A (p.Phe327Ile) c.844T>A (p.Phe282Ile) | |
17 | g.77482311T>C | CA401208022 | SEPTIN9 | c.835T>C (p.Phe279Leu) c.889T>C (p.Phe297Leu) c.397T>C (p.Phe133Leu) n.193T>C n.938T>C c.136T>C (p.Phe46Leu) c.868T>C (p.Phe290Leu) c.553T>C (p.Phe185Leu) c.217T>C (p.Phe73Leu) c.196-5171T>C (n.196-5171T>C) c.340T>C (p.Phe114Leu) c.832T>C (p.Phe278Leu) c.316T>C (p.Phe106Leu) n.453T>C c.982T>C (p.Phe328Leu) c.979T>C (p.Phe327Leu) c.844T>C (p.Phe282Leu) | |
17 | g.77482311T>G | CA401208023 | SEPTIN9 | c.835T>G (p.Phe279Val) c.889T>G (p.Phe297Val) c.397T>G (p.Phe133Val) n.193T>G n.938T>G c.136T>G (p.Phe46Val) c.868T>G (p.Phe290Val) c.553T>G (p.Phe185Val) c.217T>G (p.Phe73Val) c.196-5171T>G (n.196-5171T>G) c.340T>G (p.Phe114Val) c.832T>G (p.Phe278Val) c.316T>G (p.Phe106Val) n.453T>G c.982T>G (p.Phe328Val) c.979T>G (p.Phe327Val) c.844T>G (p.Phe282Val) | |
17 | g.77482312T>A | CA401208024 | SEPTIN9 | c.836T>A (p.Phe279Tyr) c.890T>A (p.Phe297Tyr) c.398T>A (p.Phe133Tyr) n.194T>A n.939T>A c.137T>A (p.Phe46Tyr) c.869T>A (p.Phe290Tyr) c.554T>A (p.Phe185Tyr) c.218T>A (p.Phe73Tyr) c.196-5170T>A (n.196-5170T>A) c.341T>A (p.Phe114Tyr) c.833T>A (p.Phe278Tyr) c.317T>A (p.Phe106Tyr) n.454T>A c.983T>A (p.Phe328Tyr) c.980T>A (p.Phe327Tyr) c.845T>A (p.Phe282Tyr) | |
17 | g.77482312T>C | CA401208025 | SEPTIN9 | c.836T>C (p.Phe279Ser) c.890T>C (p.Phe297Ser) c.398T>C (p.Phe133Ser) n.194T>C n.939T>C c.137T>C (p.Phe46Ser) c.869T>C (p.Phe290Ser) c.554T>C (p.Phe185Ser) c.218T>C (p.Phe73Ser) c.196-5170T>C (n.196-5170T>C) c.341T>C (p.Phe114Ser) c.833T>C (p.Phe278Ser) c.317T>C (p.Phe106Ser) n.454T>C c.983T>C (p.Phe328Ser) c.980T>C (p.Phe327Ser) c.845T>C (p.Phe282Ser) | |
17 | g.77482312T>G | CA401208026 | SEPTIN9 | c.836T>G (p.Phe279Cys) c.890T>G (p.Phe297Cys) c.398T>G (p.Phe133Cys) n.194T>G n.939T>G c.137T>G (p.Phe46Cys) c.869T>G (p.Phe290Cys) c.554T>G (p.Phe185Cys) c.218T>G (p.Phe73Cys) c.196-5170T>G (n.196-5170T>G) c.341T>G (p.Phe114Cys) c.833T>G (p.Phe278Cys) c.317T>G (p.Phe106Cys) n.454T>G c.983T>G (p.Phe328Cys) c.980T>G (p.Phe327Cys) c.845T>G (p.Phe282Cys) | |
17 | g.77482313C>A | CA401208027 | SEPTIN9 | c.837C>A (p.Phe279Leu) c.891C>A (p.Phe297Leu) c.399C>A (p.Phe133Leu) n.195C>A n.940C>A c.138C>A (p.Phe46Leu) c.870C>A (p.Phe290Leu) c.555C>A (p.Phe185Leu) c.219C>A (p.Phe73Leu) c.196-5169C>A (n.196-5169C>A) c.342C>A (p.Phe114Leu) c.834C>A (p.Phe278Leu) c.318C>A (p.Phe106Leu) n.455C>A c.984C>A (p.Phe328Leu) c.981C>A (p.Phe327Leu) c.846C>A (p.Phe282Leu) | |
17 | g.77482313C= | CA2276500457 | SEPTIN9 | c.837C= (p.Phe279=) c.891C= (p.Phe297=) c.399C= (p.Phe133=) n.195C= n.940C= c.138C= (p.Phe46=) c.870C= (p.Phe290=) c.555C= (p.Phe185=) c.219C= (p.Phe73=) c.196-5169C= (n.196-5169C=) c.342C= (p.Phe114=) c.834C= (p.Phe278=) c.318C= (p.Phe106=) n.455C= c.984C= (p.Phe328=) c.981C= (p.Phe327=) c.846C= (p.Phe282=) | |
17 | g.77482313C>G | CA401208028 | SEPTIN9 | c.837C>G (p.Phe279Leu) c.891C>G (p.Phe297Leu) c.399C>G (p.Phe133Leu) n.195C>G n.940C>G c.138C>G (p.Phe46Leu) c.870C>G (p.Phe290Leu) c.555C>G (p.Phe185Leu) c.219C>G (p.Phe73Leu) c.196-5169C>G (n.196-5169C>G) c.342C>G (p.Phe114Leu) c.834C>G (p.Phe278Leu) c.318C>G (p.Phe106Leu) n.455C>G c.984C>G (p.Phe328Leu) c.981C>G (p.Phe327Leu) c.846C>G (p.Phe282Leu) | |
17 | g.77482313C>T | CA8793545 | SEPTIN9 | c.837C>T (p.Phe279=) c.891C>T (p.Phe297=) c.399C>T (p.Phe133=) n.195C>T n.940C>T c.138C>T (p.Phe46=) c.870C>T (p.Phe290=) c.555C>T (p.Phe185=) c.219C>T (p.Phe73=) c.196-5169C>T (n.196-5169C>T) c.342C>T (p.Phe114=) c.834C>T (p.Phe278=) c.318C>T (p.Phe106=) n.455C>T c.984C>T (p.Phe328=) c.981C>T (p.Phe327=) c.846C>T (p.Phe282=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482314G>A | CA401208029 | SEPTIN9 | c.838G>A (p.Glu280Lys) c.892G>A (p.Glu298Lys) c.400G>A (p.Glu134Lys) n.196G>A n.941G>A c.139G>A (p.Glu47Lys) c.871G>A (p.Glu291Lys) c.556G>A (p.Glu186Lys) c.220G>A (p.Glu74Lys) c.196-5168G>A (n.196-5168G>A) c.343G>A (p.Glu115Lys) c.835G>A (p.Glu279Lys) c.319G>A (p.Glu107Lys) n.456G>A c.985G>A (p.Glu329Lys) c.982G>A (p.Glu328Lys) c.847G>A (p.Glu283Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482314G>C | CA401208031 | SEPTIN9 | c.838G>C (p.Glu280Gln) c.892G>C (p.Glu298Gln) c.400G>C (p.Glu134Gln) n.196G>C n.941G>C c.139G>C (p.Glu47Gln) c.871G>C (p.Glu291Gln) c.556G>C (p.Glu186Gln) c.220G>C (p.Glu74Gln) c.196-5168G>C (n.196-5168G>C) c.343G>C (p.Glu115Gln) c.835G>C (p.Glu279Gln) c.319G>C (p.Glu107Gln) n.456G>C c.985G>C (p.Glu329Gln) c.982G>C (p.Glu328Gln) c.847G>C (p.Glu283Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482314G= | CA2276500458 | SEPTIN9 | c.838G= (p.Glu280=) c.892G= (p.Glu298=) c.400G= (p.Glu134=) n.196G= n.941G= c.139G= (p.Glu47=) c.871G= (p.Glu291=) c.556G= (p.Glu186=) c.220G= (p.Glu74=) c.196-5168G= (n.196-5168G=) c.343G= (p.Glu115=) c.835G= (p.Glu279=) c.319G= (p.Glu107=) n.456G= c.985G= (p.Glu329=) c.982G= (p.Glu328=) c.847G= (p.Glu283=) | |
17 | g.77482314G>T | CA401208030 | SEPTIN9 | c.838G>T (p.Glu280Ter) c.892G>T (p.Glu298Ter) c.400G>T (p.Glu134Ter) n.196G>T n.941G>T c.139G>T (p.Glu47Ter) c.871G>T (p.Glu291Ter) c.556G>T (p.Glu186Ter) c.220G>T (p.Glu74Ter) c.196-5168G>T (n.196-5168G>T) c.343G>T (p.Glu115Ter) c.835G>T (p.Glu279Ter) c.319G>T (p.Glu107Ter) n.456G>T c.985G>T (p.Glu329Ter) c.982G>T (p.Glu328Ter) c.847G>T (p.Glu283Ter) | |
17 | g.77482315A>C | CA401208032 | SEPTIN9 | c.839A>C (p.Glu280Ala) c.893A>C (p.Glu298Ala) c.401A>C (p.Glu134Ala) n.197A>C n.942A>C c.140A>C (p.Glu47Ala) c.872A>C (p.Glu291Ala) c.557A>C (p.Glu186Ala) c.221A>C (p.Glu74Ala) c.196-5167A>C (n.196-5167A>C) c.344A>C (p.Glu115Ala) c.836A>C (p.Glu279Ala) c.320A>C (p.Glu107Ala) n.457A>C c.986A>C (p.Glu329Ala) c.983A>C (p.Glu328Ala) c.848A>C (p.Glu283Ala) | |
17 | g.77482315A>G | CA401208034 | SEPTIN9 | c.839A>G (p.Glu280Gly) c.893A>G (p.Glu298Gly) c.401A>G (p.Glu134Gly) n.197A>G n.942A>G c.140A>G (p.Glu47Gly) c.872A>G (p.Glu291Gly) c.557A>G (p.Glu186Gly) c.221A>G (p.Glu74Gly) c.196-5167A>G (n.196-5167A>G) c.344A>G (p.Glu115Gly) c.836A>G (p.Glu279Gly) c.320A>G (p.Glu107Gly) n.457A>G c.986A>G (p.Glu329Gly) c.983A>G (p.Glu328Gly) c.848A>G (p.Glu283Gly) | |
17 | g.77482315A>T | CA401208033 | SEPTIN9 | c.839A>T (p.Glu280Val) c.893A>T (p.Glu298Val) c.401A>T (p.Glu134Val) n.197A>T n.942A>T c.140A>T (p.Glu47Val) c.872A>T (p.Glu291Val) c.557A>T (p.Glu186Val) c.221A>T (p.Glu74Val) c.196-5167A>T (n.196-5167A>T) c.344A>T (p.Glu115Val) c.836A>T (p.Glu279Val) c.320A>T (p.Glu107Val) n.457A>T c.986A>T (p.Glu329Val) c.983A>T (p.Glu328Val) c.848A>T (p.Glu283Val) | |
17 | g.77482316G>A | CA501952152 | SEPTIN9 | c.840G>A (p.Glu280=) c.894G>A (p.Glu298=) c.402G>A (p.Glu134=) n.198G>A n.943G>A c.141G>A (p.Glu47=) c.873G>A (p.Glu291=) c.558G>A (p.Glu186=) c.222G>A (p.Glu74=) c.196-5166G>A (n.196-5166G>A) c.345G>A (p.Glu115=) c.837G>A (p.Glu279=) c.321G>A (p.Glu107=) n.458G>A c.987G>A (p.Glu329=) c.984G>A (p.Glu328=) c.849G>A (p.Glu283=) | |
17 | g.77482316G>C | CA401208035 | SEPTIN9 | c.840G>C (p.Glu280Asp) c.894G>C (p.Glu298Asp) c.402G>C (p.Glu134Asp) n.198G>C n.943G>C c.141G>C (p.Glu47Asp) c.873G>C (p.Glu291Asp) c.558G>C (p.Glu186Asp) c.222G>C (p.Glu74Asp) c.196-5166G>C (n.196-5166G>C) c.345G>C (p.Glu115Asp) c.837G>C (p.Glu279Asp) c.321G>C (p.Glu107Asp) n.458G>C c.987G>C (p.Glu329Asp) c.984G>C (p.Glu328Asp) c.849G>C (p.Glu283Asp) | |
17 | g.77482316G>T | CA401208036 | SEPTIN9 | c.840G>T (p.Glu280Asp) c.894G>T (p.Glu298Asp) c.402G>T (p.Glu134Asp) n.198G>T n.943G>T c.141G>T (p.Glu47Asp) c.873G>T (p.Glu291Asp) c.558G>T (p.Glu186Asp) c.222G>T (p.Glu74Asp) c.196-5166G>T (n.196-5166G>T) c.345G>T (p.Glu115Asp) c.837G>T (p.Glu279Asp) c.321G>T (p.Glu107Asp) n.458G>T c.987G>T (p.Glu329Asp) c.984G>T (p.Glu328Asp) c.849G>T (p.Glu283Asp) | |
17 | g.77482317T>A | CA401208037 | SEPTIN9 | c.841T>A (p.Phe281Ile) c.895T>A (p.Phe299Ile) c.403T>A (p.Phe135Ile) n.199T>A n.944T>A c.142T>A (p.Phe48Ile) c.874T>A (p.Phe292Ile) c.559T>A (p.Phe187Ile) c.223T>A (p.Phe75Ile) c.196-5165T>A (n.196-5165T>A) c.346T>A (p.Phe116Ile) c.838T>A (p.Phe280Ile) c.322T>A (p.Phe108Ile) n.459T>A c.988T>A (p.Phe330Ile) c.985T>A (p.Phe329Ile) c.850T>A (p.Phe284Ile) | |
17 | g.77482317T>C | CA401208038 | SEPTIN9 | c.841T>C (p.Phe281Leu) c.895T>C (p.Phe299Leu) c.403T>C (p.Phe135Leu) n.199T>C n.944T>C c.142T>C (p.Phe48Leu) c.874T>C (p.Phe292Leu) c.559T>C (p.Phe187Leu) c.223T>C (p.Phe75Leu) c.196-5165T>C (n.196-5165T>C) c.346T>C (p.Phe116Leu) c.838T>C (p.Phe280Leu) c.322T>C (p.Phe108Leu) n.459T>C c.988T>C (p.Phe330Leu) c.985T>C (p.Phe329Leu) c.850T>C (p.Phe284Leu) | |
17 | g.77482317T>G | CA401208039 | SEPTIN9 | c.841T>G (p.Phe281Val) c.895T>G (p.Phe299Val) c.403T>G (p.Phe135Val) n.199T>G n.944T>G c.142T>G (p.Phe48Val) c.874T>G (p.Phe292Val) c.559T>G (p.Phe187Val) c.223T>G (p.Phe75Val) c.196-5165T>G (n.196-5165T>G) c.346T>G (p.Phe116Val) c.838T>G (p.Phe280Val) c.322T>G (p.Phe108Val) n.459T>G c.988T>G (p.Phe330Val) c.985T>G (p.Phe329Val) c.850T>G (p.Phe284Val) | |
17 | g.77482318T>A | CA401208040 | SEPTIN9 | c.842T>A (p.Phe281Tyr) c.896T>A (p.Phe299Tyr) c.404T>A (p.Phe135Tyr) n.200T>A n.945T>A c.143T>A (p.Phe48Tyr) c.875T>A (p.Phe292Tyr) c.560T>A (p.Phe187Tyr) c.224T>A (p.Phe75Tyr) c.196-5164T>A (n.196-5164T>A) c.347T>A (p.Phe116Tyr) c.839T>A (p.Phe280Tyr) c.323T>A (p.Phe108Tyr) n.460T>A c.989T>A (p.Phe330Tyr) c.986T>A (p.Phe329Tyr) c.851T>A (p.Phe284Tyr) | |
17 | g.77482318T>C | CA401208041 | SEPTIN9 | c.842T>C (p.Phe281Ser) c.896T>C (p.Phe299Ser) c.404T>C (p.Phe135Ser) n.200T>C n.945T>C c.143T>C (p.Phe48Ser) c.875T>C (p.Phe292Ser) c.560T>C (p.Phe187Ser) c.224T>C (p.Phe75Ser) c.196-5164T>C (n.196-5164T>C) c.347T>C (p.Phe116Ser) c.839T>C (p.Phe280Ser) c.323T>C (p.Phe108Ser) n.460T>C c.989T>C (p.Phe330Ser) c.986T>C (p.Phe329Ser) c.851T>C (p.Phe284Ser) | |
17 | g.77482318T>G | CA401208042 | SEPTIN9 | c.842T>G (p.Phe281Cys) c.896T>G (p.Phe299Cys) c.404T>G (p.Phe135Cys) n.200T>G n.945T>G c.143T>G (p.Phe48Cys) c.875T>G (p.Phe292Cys) c.560T>G (p.Phe187Cys) c.224T>G (p.Phe75Cys) c.196-5164T>G (n.196-5164T>G) c.347T>G (p.Phe116Cys) c.839T>G (p.Phe280Cys) c.323T>G (p.Phe108Cys) n.460T>G c.989T>G (p.Phe330Cys) c.986T>G (p.Phe329Cys) c.851T>G (p.Phe284Cys) | |
17 | g.77482319C>A | CA401208043 | SEPTIN9 | c.843C>A (p.Phe281Leu) c.897C>A (p.Phe299Leu) c.405C>A (p.Phe135Leu) n.201C>A n.946C>A c.144C>A (p.Phe48Leu) c.876C>A (p.Phe292Leu) c.561C>A (p.Phe187Leu) c.225C>A (p.Phe75Leu) c.196-5163C>A (n.196-5163C>A) c.348C>A (p.Phe116Leu) c.840C>A (p.Phe280Leu) c.324C>A (p.Phe108Leu) n.461C>A c.990C>A (p.Phe330Leu) c.987C>A (p.Phe329Leu) c.852C>A (p.Phe284Leu) | gnomAD v4 |
17 | g.77482319C= | CA2276500459 | SEPTIN9 | c.843C= (p.Phe281=) c.897C= (p.Phe299=) c.405C= (p.Phe135=) n.201C= n.946C= c.144C= (p.Phe48=) c.876C= (p.Phe292=) c.561C= (p.Phe187=) c.225C= (p.Phe75=) c.196-5163C= (n.196-5163C=) c.348C= (p.Phe116=) c.840C= (p.Phe280=) c.324C= (p.Phe108=) n.461C= c.990C= (p.Phe330=) c.987C= (p.Phe329=) c.852C= (p.Phe284=) | |
17 | g.77482319C>G | CA8793546 | SEPTIN9 | c.843C>G (p.Phe281Leu) c.897C>G (p.Phe299Leu) c.405C>G (p.Phe135Leu) n.201C>G n.946C>G c.144C>G (p.Phe48Leu) c.876C>G (p.Phe292Leu) c.561C>G (p.Phe187Leu) c.225C>G (p.Phe75Leu) c.196-5163C>G (n.196-5163C>G) c.348C>G (p.Phe116Leu) c.840C>G (p.Phe280Leu) c.324C>G (p.Phe108Leu) n.461C>G c.990C>G (p.Phe330Leu) c.987C>G (p.Phe329Leu) c.852C>G (p.Phe284Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482319C>T | CA501952153 | SEPTIN9 | c.843C>T (p.Phe281=) c.897C>T (p.Phe299=) c.405C>T (p.Phe135=) n.201C>T n.946C>T c.144C>T (p.Phe48=) c.876C>T (p.Phe292=) c.561C>T (p.Phe187=) c.225C>T (p.Phe75=) c.196-5163C>T (n.196-5163C>T) c.348C>T (p.Phe116=) c.840C>T (p.Phe280=) c.324C>T (p.Phe108=) n.461C>T c.990C>T (p.Phe330=) c.987C>T (p.Phe329=) c.852C>T (p.Phe284=) | gnomAD v4 |
17 | g.77482320A>C | CA401208046 | SEPTIN9 | c.844A>C (p.Asn282His) c.898A>C (p.Asn300His) c.406A>C (p.Asn136His) n.202A>C n.947A>C c.145A>C (p.Asn49His) c.877A>C (p.Asn293His) c.562A>C (p.Asn188His) c.226A>C (p.Asn76His) c.196-5162A>C (n.196-5162A>C) c.349A>C (p.Asn117His) c.841A>C (p.Asn281His) c.325A>C (p.Asn109His) n.462A>C c.991A>C (p.Asn331His) c.988A>C (p.Asn330His) c.853A>C (p.Asn285His) | |
17 | g.77482320A>G | CA401208045 | SEPTIN9 | c.844A>G (p.Asn282Asp) c.898A>G (p.Asn300Asp) c.406A>G (p.Asn136Asp) n.202A>G n.947A>G c.145A>G (p.Asn49Asp) c.877A>G (p.Asn293Asp) c.562A>G (p.Asn188Asp) c.226A>G (p.Asn76Asp) c.196-5162A>G (n.196-5162A>G) c.349A>G (p.Asn117Asp) c.841A>G (p.Asn281Asp) c.325A>G (p.Asn109Asp) n.462A>G c.991A>G (p.Asn331Asp) c.988A>G (p.Asn330Asp) c.853A>G (p.Asn285Asp) | |
17 | g.77482320A>T | CA401208044 | SEPTIN9 | c.844A>T (p.Asn282Tyr) c.898A>T (p.Asn300Tyr) c.406A>T (p.Asn136Tyr) n.202A>T n.947A>T c.145A>T (p.Asn49Tyr) c.877A>T (p.Asn293Tyr) c.562A>T (p.Asn188Tyr) c.226A>T (p.Asn76Tyr) c.196-5162A>T (n.196-5162A>T) c.349A>T (p.Asn117Tyr) c.841A>T (p.Asn281Tyr) c.325A>T (p.Asn109Tyr) n.462A>T c.991A>T (p.Asn331Tyr) c.988A>T (p.Asn330Tyr) c.853A>T (p.Asn285Tyr) | |
17 | g.77482321A>C | CA401208047 | SEPTIN9 | c.845A>C (p.Asn282Thr) c.899A>C (p.Asn300Thr) c.407A>C (p.Asn136Thr) n.203A>C n.948A>C c.146A>C (p.Asn49Thr) c.878A>C (p.Asn293Thr) c.563A>C (p.Asn188Thr) c.227A>C (p.Asn76Thr) c.196-5161A>C (n.196-5161A>C) c.350A>C (p.Asn117Thr) c.842A>C (p.Asn281Thr) c.326A>C (p.Asn109Thr) n.463A>C c.992A>C (p.Asn331Thr) c.989A>C (p.Asn330Thr) c.854A>C (p.Asn285Thr) | |
17 | g.77482321A>G | CA401208048 | SEPTIN9 | c.845A>G (p.Asn282Ser) c.899A>G (p.Asn300Ser) c.407A>G (p.Asn136Ser) n.203A>G n.948A>G c.146A>G (p.Asn49Ser) c.878A>G (p.Asn293Ser) c.563A>G (p.Asn188Ser) c.227A>G (p.Asn76Ser) c.196-5161A>G (n.196-5161A>G) c.350A>G (p.Asn117Ser) c.842A>G (p.Asn281Ser) c.326A>G (p.Asn109Ser) n.463A>G c.992A>G (p.Asn331Ser) c.989A>G (p.Asn330Ser) c.854A>G (p.Asn285Ser) | |
17 | g.77482321A>T | CA401208049 | SEPTIN9 | c.845A>T (p.Asn282Ile) c.899A>T (p.Asn300Ile) c.407A>T (p.Asn136Ile) n.203A>T n.948A>T c.146A>T (p.Asn49Ile) c.878A>T (p.Asn293Ile) c.563A>T (p.Asn188Ile) c.227A>T (p.Asn76Ile) c.196-5161A>T (n.196-5161A>T) c.350A>T (p.Asn117Ile) c.842A>T (p.Asn281Ile) c.326A>T (p.Asn109Ile) n.463A>T c.992A>T (p.Asn331Ile) c.989A>T (p.Asn330Ile) c.854A>T (p.Asn285Ile) | |
17 | g.77482322C>A | CA401208050 | SEPTIN9 | c.846C>A (p.Asn282Lys) c.900C>A (p.Asn300Lys) c.408C>A (p.Asn136Lys) n.204C>A n.949C>A c.147C>A (p.Asn49Lys) c.879C>A (p.Asn293Lys) c.564C>A (p.Asn188Lys) c.228C>A (p.Asn76Lys) c.196-5160C>A (n.196-5160C>A) c.351C>A (p.Asn117Lys) c.843C>A (p.Asn281Lys) c.327C>A (p.Asn109Lys) n.464C>A c.993C>A (p.Asn331Lys) c.990C>A (p.Asn330Lys) c.855C>A (p.Asn285Lys) | |
17 | g.77482322C>G | CA401208051 | SEPTIN9 | c.846C>G (p.Asn282Lys) c.900C>G (p.Asn300Lys) c.408C>G (p.Asn136Lys) n.204C>G n.949C>G c.147C>G (p.Asn49Lys) c.879C>G (p.Asn293Lys) c.564C>G (p.Asn188Lys) c.228C>G (p.Asn76Lys) c.196-5160C>G (n.196-5160C>G) c.351C>G (p.Asn117Lys) c.843C>G (p.Asn281Lys) c.327C>G (p.Asn109Lys) n.464C>G c.993C>G (p.Asn331Lys) c.990C>G (p.Asn330Lys) c.855C>G (p.Asn285Lys) | |
17 | g.77482322C>T | CA501952154 | SEPTIN9 | c.846C>T (p.Asn282=) c.900C>T (p.Asn300=) c.408C>T (p.Asn136=) n.204C>T n.949C>T c.147C>T (p.Asn49=) c.879C>T (p.Asn293=) c.564C>T (p.Asn188=) c.228C>T (p.Asn76=) c.196-5160C>T (n.196-5160C>T) c.351C>T (p.Asn117=) c.843C>T (p.Asn281=) c.327C>T (p.Asn109=) n.464C>T c.993C>T (p.Asn331=) c.990C>T (p.Asn330=) c.855C>T (p.Asn285=) | |
17 | g.77482323A= | CA2276500460 | SEPTIN9 | c.847A= (p.Ile283=) c.901A= (p.Ile301=) c.409A= (p.Ile137=) n.205A= n.950A= c.148A= (p.Ile50=) c.880A= (p.Ile294=) c.565A= (p.Ile189=) c.229A= (p.Ile77=) c.196-5159A= (n.196-5159A=) c.352A= (p.Ile118=) c.844A= (p.Ile282=) c.328A= (p.Ile110=) n.465A= c.994A= (p.Ile332=) c.991A= (p.Ile331=) c.856A= (p.Ile286=) | |
17 | g.77482323A>C | CA401208052 | SEPTIN9 | c.847A>C (p.Ile283Leu) c.901A>C (p.Ile301Leu) c.409A>C (p.Ile137Leu) n.205A>C n.950A>C c.148A>C (p.Ile50Leu) c.880A>C (p.Ile294Leu) c.565A>C (p.Ile189Leu) c.229A>C (p.Ile77Leu) c.196-5159A>C (n.196-5159A>C) c.352A>C (p.Ile118Leu) c.844A>C (p.Ile282Leu) c.328A>C (p.Ile110Leu) n.465A>C c.994A>C (p.Ile332Leu) c.991A>C (p.Ile331Leu) c.856A>C (p.Ile286Leu) | dbSNP |
17 | g.77482323A>G | CA401208053 | SEPTIN9 | c.847A>G (p.Ile283Val) c.901A>G (p.Ile301Val) c.409A>G (p.Ile137Val) n.205A>G n.950A>G c.148A>G (p.Ile50Val) c.880A>G (p.Ile294Val) c.565A>G (p.Ile189Val) c.229A>G (p.Ile77Val) c.196-5159A>G (n.196-5159A>G) c.352A>G (p.Ile118Val) c.844A>G (p.Ile282Val) c.328A>G (p.Ile110Val) n.465A>G c.994A>G (p.Ile332Val) c.991A>G (p.Ile331Val) c.856A>G (p.Ile286Val) | |
17 | g.77482323A>T | CA401208054 | SEPTIN9 | c.847A>T (p.Ile283Phe) c.901A>T (p.Ile301Phe) c.409A>T (p.Ile137Phe) n.205A>T n.950A>T c.148A>T (p.Ile50Phe) c.880A>T (p.Ile294Phe) c.565A>T (p.Ile189Phe) c.229A>T (p.Ile77Phe) c.196-5159A>T (n.196-5159A>T) c.352A>T (p.Ile118Phe) c.844A>T (p.Ile282Phe) c.328A>T (p.Ile110Phe) n.465A>T c.994A>T (p.Ile332Phe) c.991A>T (p.Ile331Phe) c.856A>T (p.Ile286Phe) | gnomAD v4 |
17 | g.77482324T>A | CA401208055 | SEPTIN9 | c.848T>A (p.Ile283Asn) c.902T>A (p.Ile301Asn) c.410T>A (p.Ile137Asn) n.206T>A n.951T>A c.149T>A (p.Ile50Asn) c.881T>A (p.Ile294Asn) c.566T>A (p.Ile189Asn) c.230T>A (p.Ile77Asn) c.196-5158T>A (n.196-5158T>A) c.353T>A (p.Ile118Asn) c.845T>A (p.Ile282Asn) c.329T>A (p.Ile110Asn) n.466T>A c.995T>A (p.Ile332Asn) c.992T>A (p.Ile331Asn) c.857T>A (p.Ile286Asn) | |
17 | g.77482324T>C | CA401208056 | SEPTIN9 | c.848T>C (p.Ile283Thr) c.902T>C (p.Ile301Thr) c.410T>C (p.Ile137Thr) n.206T>C n.951T>C c.149T>C (p.Ile50Thr) c.881T>C (p.Ile294Thr) c.566T>C (p.Ile189Thr) c.230T>C (p.Ile77Thr) c.196-5158T>C (n.196-5158T>C) c.353T>C (p.Ile118Thr) c.845T>C (p.Ile282Thr) c.329T>C (p.Ile110Thr) n.466T>C c.995T>C (p.Ile332Thr) c.992T>C (p.Ile331Thr) c.857T>C (p.Ile286Thr) | |
17 | g.77482324T>G | CA401208057 | SEPTIN9 | c.848T>G (p.Ile283Ser) c.902T>G (p.Ile301Ser) c.410T>G (p.Ile137Ser) n.206T>G n.951T>G c.149T>G (p.Ile50Ser) c.881T>G (p.Ile294Ser) c.566T>G (p.Ile189Ser) c.230T>G (p.Ile77Ser) c.196-5158T>G (n.196-5158T>G) c.353T>G (p.Ile118Ser) c.845T>G (p.Ile282Ser) c.329T>G (p.Ile110Ser) n.466T>G c.995T>G (p.Ile332Ser) c.992T>G (p.Ile331Ser) c.857T>G (p.Ile286Ser) | |
17 | g.77482325C>A | CA501952155 | SEPTIN9 | c.849C>A (p.Ile283=) c.903C>A (p.Ile301=) c.411C>A (p.Ile137=) n.207C>A n.952C>A c.150C>A (p.Ile50=) c.882C>A (p.Ile294=) c.567C>A (p.Ile189=) c.231C>A (p.Ile77=) c.196-5157C>A (n.196-5157C>A) c.354C>A (p.Ile118=) c.846C>A (p.Ile282=) c.330C>A (p.Ile110=) n.467C>A c.996C>A (p.Ile332=) c.993C>A (p.Ile331=) c.858C>A (p.Ile286=) | |
17 | g.77482325C= | CA2276500461 | SEPTIN9 | c.849C= (p.Ile283=) c.903C= (p.Ile301=) c.411C= (p.Ile137=) n.207C= n.952C= c.150C= (p.Ile50=) c.882C= (p.Ile294=) c.567C= (p.Ile189=) c.231C= (p.Ile77=) c.196-5157C= (n.196-5157C=) c.354C= (p.Ile118=) c.846C= (p.Ile282=) c.330C= (p.Ile110=) n.467C= c.996C= (p.Ile332=) c.993C= (p.Ile331=) c.858C= (p.Ile286=) | |
17 | g.77482325C>G | CA8793547 | SEPTIN9 | c.849C>G (p.Ile283Met) c.903C>G (p.Ile301Met) c.411C>G (p.Ile137Met) n.207C>G n.952C>G c.150C>G (p.Ile50Met) c.882C>G (p.Ile294Met) c.567C>G (p.Ile189Met) c.231C>G (p.Ile77Met) c.196-5157C>G (n.196-5157C>G) c.354C>G (p.Ile118Met) c.846C>G (p.Ile282Met) c.330C>G (p.Ile110Met) n.467C>G c.996C>G (p.Ile332Met) c.993C>G (p.Ile331Met) c.858C>G (p.Ile286Met) | dbSNP ExAC gnomAD v2 |
17 | g.77482325C>T | CA501952156 | SEPTIN9 | c.849C>T (p.Ile283=) c.903C>T (p.Ile301=) c.411C>T (p.Ile137=) n.207C>T n.952C>T c.150C>T (p.Ile50=) c.882C>T (p.Ile294=) c.567C>T (p.Ile189=) c.231C>T (p.Ile77=) c.196-5157C>T (n.196-5157C>T) c.354C>T (p.Ile118=) c.846C>T (p.Ile282=) c.330C>T (p.Ile110=) n.467C>T c.996C>T (p.Ile332=) c.993C>T (p.Ile331=) c.858C>T (p.Ile286=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.77482326A>C | CA401208059 | SEPTIN9 | c.850A>C (p.Met284Leu) c.904A>C (p.Met302Leu) c.412A>C (p.Met138Leu) n.208A>C n.953A>C c.151A>C (p.Met51Leu) c.883A>C (p.Met295Leu) c.568A>C (p.Met190Leu) c.232A>C (p.Met78Leu) c.196-5156A>C (n.196-5156A>C) c.355A>C (p.Met119Leu) c.847A>C (p.Met283Leu) c.331A>C (p.Met111Leu) n.468A>C c.997A>C (p.Met333Leu) c.994A>C (p.Met332Leu) c.859A>C (p.Met287Leu) | |
17 | g.77482326A>G | CA401208060 | SEPTIN9 | c.850A>G (p.Met284Val) c.904A>G (p.Met302Val) c.412A>G (p.Met138Val) n.208A>G n.953A>G c.151A>G (p.Met51Val) c.883A>G (p.Met295Val) c.568A>G (p.Met190Val) c.232A>G (p.Met78Val) c.196-5156A>G (n.196-5156A>G) c.355A>G (p.Met119Val) c.847A>G (p.Met283Val) c.331A>G (p.Met111Val) n.468A>G c.997A>G (p.Met333Val) c.994A>G (p.Met332Val) c.859A>G (p.Met287Val) | gnomAD v4 |
17 | g.77482326A>T | CA401208058 | SEPTIN9 | c.850A>T (p.Met284Leu) c.904A>T (p.Met302Leu) c.412A>T (p.Met138Leu) n.208A>T n.953A>T c.151A>T (p.Met51Leu) c.883A>T (p.Met295Leu) c.568A>T (p.Met190Leu) c.232A>T (p.Met78Leu) c.196-5156A>T (n.196-5156A>T) c.355A>T (p.Met119Leu) c.847A>T (p.Met283Leu) c.331A>T (p.Met111Leu) n.468A>T c.997A>T (p.Met333Leu) c.994A>T (p.Met332Leu) c.859A>T (p.Met287Leu) | |
17 | g.77482327T>A | CA401208061 | SEPTIN9 | c.851T>A (p.Met284Lys) c.905T>A (p.Met302Lys) c.413T>A (p.Met138Lys) n.209T>A n.954T>A c.152T>A (p.Met51Lys) c.884T>A (p.Met295Lys) c.569T>A (p.Met190Lys) c.233T>A (p.Met78Lys) c.196-5155T>A (n.196-5155T>A) c.356T>A (p.Met119Lys) c.848T>A (p.Met283Lys) c.332T>A (p.Met111Lys) n.469T>A c.998T>A (p.Met333Lys) c.995T>A (p.Met332Lys) c.860T>A (p.Met287Lys) | |
17 | g.77482327T>C | CA401208062 | SEPTIN9 | c.851T>C (p.Met284Thr) c.905T>C (p.Met302Thr) c.413T>C (p.Met138Thr) n.209T>C n.954T>C c.152T>C (p.Met51Thr) c.884T>C (p.Met295Thr) c.569T>C (p.Met190Thr) c.233T>C (p.Met78Thr) c.196-5155T>C (n.196-5155T>C) c.356T>C (p.Met119Thr) c.848T>C (p.Met283Thr) c.332T>C (p.Met111Thr) n.469T>C c.998T>C (p.Met333Thr) c.995T>C (p.Met332Thr) c.860T>C (p.Met287Thr) | |
17 | g.77482327T>G | CA401208063 | SEPTIN9 | c.851T>G (p.Met284Arg) c.905T>G (p.Met302Arg) c.413T>G (p.Met138Arg) n.209T>G n.954T>G c.152T>G (p.Met51Arg) c.884T>G (p.Met295Arg) c.569T>G (p.Met190Arg) c.233T>G (p.Met78Arg) c.196-5155T>G (n.196-5155T>G) c.356T>G (p.Met119Arg) c.848T>G (p.Met283Arg) c.332T>G (p.Met111Arg) n.469T>G c.998T>G (p.Met333Arg) c.995T>G (p.Met332Arg) c.860T>G (p.Met287Arg) | |
17 | g.77482328G>A | CA401208064 | SEPTIN9 | c.852G>A (p.Met284Ile) c.906G>A (p.Met302Ile) c.414G>A (p.Met138Ile) n.210G>A n.955G>A c.153G>A (p.Met51Ile) c.885G>A (p.Met295Ile) c.570G>A (p.Met190Ile) c.234G>A (p.Met78Ile) c.196-5154G>A (n.196-5154G>A) c.357G>A (p.Met119Ile) c.849G>A (p.Met283Ile) c.333G>A (p.Met111Ile) n.470G>A c.999G>A (p.Met333Ile) c.996G>A (p.Met332Ile) c.861G>A (p.Met287Ile) | |
17 | g.77482328G>C | CA401208065 | SEPTIN9 | c.852G>C (p.Met284Ile) c.906G>C (p.Met302Ile) c.414G>C (p.Met138Ile) n.210G>C n.955G>C c.153G>C (p.Met51Ile) c.885G>C (p.Met295Ile) c.570G>C (p.Met190Ile) c.234G>C (p.Met78Ile) c.196-5154G>C (n.196-5154G>C) c.357G>C (p.Met119Ile) c.849G>C (p.Met283Ile) c.333G>C (p.Met111Ile) n.470G>C c.999G>C (p.Met333Ile) c.996G>C (p.Met332Ile) c.861G>C (p.Met287Ile) | |
17 | g.77482328G>T | CA401208066 | SEPTIN9 | c.852G>T (p.Met284Ile) c.906G>T (p.Met302Ile) c.414G>T (p.Met138Ile) n.210G>T n.955G>T c.153G>T (p.Met51Ile) c.885G>T (p.Met295Ile) c.570G>T (p.Met190Ile) c.234G>T (p.Met78Ile) c.196-5154G>T (n.196-5154G>T) c.357G>T (p.Met119Ile) c.849G>T (p.Met283Ile) c.333G>T (p.Met111Ile) n.470G>T c.999G>T (p.Met333Ile) c.996G>T (p.Met332Ile) c.861G>T (p.Met287Ile) | |
17 | g.77482329G>A | CA8793548 | SEPTIN9 | c.853G>A (p.Val285Met) c.907G>A (p.Val303Met) c.415G>A (p.Val139Met) n.211G>A n.956G>A c.154G>A (p.Val52Met) c.886G>A (p.Val296Met) c.571G>A (p.Val191Met) c.235G>A (p.Val79Met) c.196-5153G>A (n.196-5153G>A) c.358G>A (p.Val120Met) c.850G>A (p.Val284Met) c.334G>A (p.Val112Met) n.471G>A c.1000G>A (p.Val334Met) c.997G>A (p.Val333Met) c.862G>A (p.Val288Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482329G>C | CA401208067 | SEPTIN9 | c.853G>C (p.Val285Leu) c.907G>C (p.Val303Leu) c.415G>C (p.Val139Leu) n.211G>C n.956G>C c.154G>C (p.Val52Leu) c.886G>C (p.Val296Leu) c.571G>C (p.Val191Leu) c.235G>C (p.Val79Leu) c.196-5153G>C (n.196-5153G>C) c.358G>C (p.Val120Leu) c.850G>C (p.Val284Leu) c.334G>C (p.Val112Leu) n.471G>C c.1000G>C (p.Val334Leu) c.997G>C (p.Val333Leu) c.862G>C (p.Val288Leu) | |
17 | g.77482329G= | CA2276500462 | SEPTIN9 | c.853G= (p.Val285=) c.907G= (p.Val303=) c.415G= (p.Val139=) n.211G= n.956G= c.154G= (p.Val52=) c.886G= (p.Val296=) c.571G= (p.Val191=) c.235G= (p.Val79=) c.196-5153G= (n.196-5153G=) c.358G= (p.Val120=) c.850G= (p.Val284=) c.334G= (p.Val112=) n.471G= c.1000G= (p.Val334=) c.997G= (p.Val333=) c.862G= (p.Val288=) | |
17 | g.77482329G>T | CA401208068 | SEPTIN9 | c.853G>T (p.Val285Leu) c.907G>T (p.Val303Leu) c.415G>T (p.Val139Leu) n.211G>T n.956G>T c.154G>T (p.Val52Leu) c.886G>T (p.Val296Leu) c.571G>T (p.Val191Leu) c.235G>T (p.Val79Leu) c.196-5153G>T (n.196-5153G>T) c.358G>T (p.Val120Leu) c.850G>T (p.Val284Leu) c.334G>T (p.Val112Leu) n.471G>T c.1000G>T (p.Val334Leu) c.997G>T (p.Val333Leu) c.862G>T (p.Val288Leu) | |
17 | g.77482330T>A | CA401208069 | SEPTIN9 | c.854T>A (p.Val285Glu) c.908T>A (p.Val303Glu) c.416T>A (p.Val139Glu) n.212T>A n.957T>A c.155T>A (p.Val52Glu) c.887T>A (p.Val296Glu) c.572T>A (p.Val191Glu) c.236T>A (p.Val79Glu) c.196-5152T>A (n.196-5152T>A) c.359T>A (p.Val120Glu) c.851T>A (p.Val284Glu) c.335T>A (p.Val112Glu) n.472T>A c.1001T>A (p.Val334Glu) c.998T>A (p.Val333Glu) c.863T>A (p.Val288Glu) | |
17 | g.77482330T>C | CA401208070 | SEPTIN9 | c.854T>C (p.Val285Ala) c.908T>C (p.Val303Ala) c.416T>C (p.Val139Ala) n.212T>C n.957T>C c.155T>C (p.Val52Ala) c.887T>C (p.Val296Ala) c.572T>C (p.Val191Ala) c.236T>C (p.Val79Ala) c.196-5152T>C (n.196-5152T>C) c.359T>C (p.Val120Ala) c.851T>C (p.Val284Ala) c.335T>C (p.Val112Ala) n.472T>C c.1001T>C (p.Val334Ala) c.998T>C (p.Val333Ala) c.863T>C (p.Val288Ala) | gnomAD v4 |
17 | g.77482330T>G | CA401208071 | SEPTIN9 | c.854T>G (p.Val285Gly) c.908T>G (p.Val303Gly) c.416T>G (p.Val139Gly) n.212T>G n.957T>G c.155T>G (p.Val52Gly) c.887T>G (p.Val296Gly) c.572T>G (p.Val191Gly) c.236T>G (p.Val79Gly) c.196-5152T>G (n.196-5152T>G) c.359T>G (p.Val120Gly) c.851T>G (p.Val284Gly) c.335T>G (p.Val112Gly) n.472T>G c.1001T>G (p.Val334Gly) c.998T>G (p.Val333Gly) c.863T>G (p.Val288Gly) | |
17 | g.77482331G>A | CA501952157 | SEPTIN9 | c.855G>A (p.Val285=) c.909G>A (p.Val303=) c.417G>A (p.Val139=) n.213G>A n.958G>A c.156G>A (p.Val52=) c.888G>A (p.Val296=) c.573G>A (p.Val191=) c.237G>A (p.Val79=) c.196-5151G>A (n.196-5151G>A) c.360G>A (p.Val120=) c.852G>A (p.Val284=) c.336G>A (p.Val112=) n.473G>A c.1002G>A (p.Val334=) c.999G>A (p.Val333=) c.864G>A (p.Val288=) | |
17 | g.77482331G>C | CA501952158 | SEPTIN9 | c.855G>C (p.Val285=) c.909G>C (p.Val303=) c.417G>C (p.Val139=) n.213G>C n.958G>C c.156G>C (p.Val52=) c.888G>C (p.Val296=) c.573G>C (p.Val191=) c.237G>C (p.Val79=) c.196-5151G>C (n.196-5151G>C) c.360G>C (p.Val120=) c.852G>C (p.Val284=) c.336G>C (p.Val112=) n.473G>C c.1002G>C (p.Val334=) c.999G>C (p.Val333=) c.864G>C (p.Val288=) | |
17 | g.77482331G= | CA2276500463 | SEPTIN9 | c.855G= (p.Val285=) c.909G= (p.Val303=) c.417G= (p.Val139=) n.213G= n.958G= c.156G= (p.Val52=) c.888G= (p.Val296=) c.573G= (p.Val191=) c.237G= (p.Val79=) c.196-5151G= (n.196-5151G=) c.360G= (p.Val120=) c.852G= (p.Val284=) c.336G= (p.Val112=) n.473G= c.1002G= (p.Val334=) c.999G= (p.Val333=) c.864G= (p.Val288=) | |
17 | g.77482331G>T | CA501952159 | SEPTIN9 | c.855G>T (p.Val285=) c.909G>T (p.Val303=) c.417G>T (p.Val139=) n.213G>T n.958G>T c.156G>T (p.Val52=) c.888G>T (p.Val296=) c.573G>T (p.Val191=) c.237G>T (p.Val79=) c.196-5151G>T (n.196-5151G>T) c.360G>T (p.Val120=) c.852G>T (p.Val284=) c.336G>T (p.Val112=) n.473G>T c.1002G>T (p.Val334=) c.999G>T (p.Val333=) c.864G>T (p.Val288=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.77482332G>A | CA401208073 | SEPTIN9 | c.856G>A (p.Val286Ile) c.910G>A (p.Val304Ile) c.418G>A (p.Val140Ile) n.214G>A n.959G>A c.157G>A (p.Val53Ile) c.889G>A (p.Val297Ile) c.574G>A (p.Val192Ile) c.238G>A (p.Val80Ile) c.196-5150G>A (n.196-5150G>A) c.361G>A (p.Val121Ile) c.853G>A (p.Val285Ile) c.337G>A (p.Val113Ile) n.474G>A c.1003G>A (p.Val335Ile) c.1000G>A (p.Val334Ile) c.865G>A (p.Val289Ile) | dbSNP gnomAD v4 |
17 | g.77482332G>C | CA401208074 | SEPTIN9 | c.856G>C (p.Val286Leu) c.910G>C (p.Val304Leu) c.418G>C (p.Val140Leu) n.214G>C n.959G>C c.157G>C (p.Val53Leu) c.889G>C (p.Val297Leu) c.574G>C (p.Val192Leu) c.238G>C (p.Val80Leu) c.196-5150G>C (n.196-5150G>C) c.361G>C (p.Val121Leu) c.853G>C (p.Val285Leu) c.337G>C (p.Val113Leu) n.474G>C c.1003G>C (p.Val335Leu) c.1000G>C (p.Val334Leu) c.865G>C (p.Val289Leu) | |
17 | g.77482332G= | CA2276500464 | SEPTIN9 | c.856G= (p.Val286=) c.910G= (p.Val304=) c.418G= (p.Val140=) n.214G= n.959G= c.157G= (p.Val53=) c.889G= (p.Val297=) c.574G= (p.Val192=) c.238G= (p.Val80=) c.196-5150G= (n.196-5150G=) c.361G= (p.Val121=) c.853G= (p.Val285=) c.337G= (p.Val113=) n.474G= c.1003G= (p.Val335=) c.1000G= (p.Val334=) c.865G= (p.Val289=) | |
17 | g.77482332G>T | CA401208072 | SEPTIN9 | c.856G>T (p.Val286Phe) c.910G>T (p.Val304Phe) c.418G>T (p.Val140Phe) n.214G>T n.959G>T c.157G>T (p.Val53Phe) c.889G>T (p.Val297Phe) c.574G>T (p.Val192Phe) c.238G>T (p.Val80Phe) c.196-5150G>T (n.196-5150G>T) c.361G>T (p.Val121Phe) c.853G>T (p.Val285Phe) c.337G>T (p.Val113Phe) n.474G>T c.1003G>T (p.Val335Phe) c.1000G>T (p.Val334Phe) c.865G>T (p.Val289Phe) | |
17 | g.77482333T>A | CA401208075 | SEPTIN9 | c.857T>A (p.Val286Asp) c.911T>A (p.Val304Asp) c.419T>A (p.Val140Asp) n.215T>A n.960T>A c.158T>A (p.Val53Asp) c.890T>A (p.Val297Asp) c.575T>A (p.Val192Asp) c.239T>A (p.Val80Asp) c.196-5149T>A (n.196-5149T>A) c.362T>A (p.Val121Asp) c.854T>A (p.Val285Asp) c.338T>A (p.Val113Asp) n.475T>A c.1004T>A (p.Val335Asp) c.1001T>A (p.Val334Asp) c.866T>A (p.Val289Asp) | |
17 | g.77482333T>C | CA401208076 | SEPTIN9 | c.857T>C (p.Val286Ala) c.911T>C (p.Val304Ala) c.419T>C (p.Val140Ala) n.215T>C n.960T>C c.158T>C (p.Val53Ala) c.890T>C (p.Val297Ala) c.575T>C (p.Val192Ala) c.239T>C (p.Val80Ala) c.196-5149T>C (n.196-5149T>C) c.362T>C (p.Val121Ala) c.854T>C (p.Val285Ala) c.338T>C (p.Val113Ala) n.475T>C c.1004T>C (p.Val335Ala) c.1001T>C (p.Val334Ala) c.866T>C (p.Val289Ala) | |
17 | g.77482333T>G | CA401208077 | SEPTIN9 | c.857T>G (p.Val286Gly) c.911T>G (p.Val304Gly) c.419T>G (p.Val140Gly) n.215T>G n.960T>G c.158T>G (p.Val53Gly) c.890T>G (p.Val297Gly) c.575T>G (p.Val192Gly) c.239T>G (p.Val80Gly) c.196-5149T>G (n.196-5149T>G) c.362T>G (p.Val121Gly) c.854T>G (p.Val285Gly) c.338T>G (p.Val113Gly) n.475T>G c.1004T>G (p.Val335Gly) c.1001T>G (p.Val334Gly) c.866T>G (p.Val289Gly) | |
17 | g.77482334C>A | CA502070002 | SEPTIN9 | c.858C>A (p.Val286=) c.912C>A (p.Val304=) c.420C>A (p.Val140=) n.216C>A n.961C>A c.159C>A (p.Val53=) c.891C>A (p.Val297=) c.576C>A (p.Val192=) c.240C>A (p.Val80=) c.196-5148C>A (n.196-5148C>A) c.363C>A (p.Val121=) c.855C>A (p.Val285=) c.339C>A (p.Val113=) n.476C>A c.1005C>A (p.Val335=) c.1002C>A (p.Val334=) c.867C>A (p.Val289=) | gnomAD v4 |
17 | g.77482334C= | CA2276500465 | SEPTIN9 | c.858C= (p.Val286=) c.912C= (p.Val304=) c.420C= (p.Val140=) n.216C= n.961C= c.159C= (p.Val53=) c.891C= (p.Val297=) c.576C= (p.Val192=) c.240C= (p.Val80=) c.196-5148C= (n.196-5148C=) c.363C= (p.Val121=) c.855C= (p.Val285=) c.339C= (p.Val113=) n.476C= c.1005C= (p.Val335=) c.1002C= (p.Val334=) c.867C= (p.Val289=) | |
17 | g.77482334C>G | CA294293863 | SEPTIN9 | c.858C>G (p.Val286=) c.912C>G (p.Val304=) c.420C>G (p.Val140=) n.216C>G n.961C>G c.159C>G (p.Val53=) c.891C>G (p.Val297=) c.576C>G (p.Val192=) c.240C>G (p.Val80=) c.196-5148C>G (n.196-5148C>G) c.363C>G (p.Val121=) c.855C>G (p.Val285=) c.339C>G (p.Val113=) n.476C>G c.1005C>G (p.Val335=) c.1002C>G (p.Val334=) c.867C>G (p.Val289=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482334C>T | CA8793549 | SEPTIN9 | c.858C>T (p.Val286=) c.912C>T (p.Val304=) c.420C>T (p.Val140=) n.216C>T n.961C>T c.159C>T (p.Val53=) c.891C>T (p.Val297=) c.576C>T (p.Val192=) c.240C>T (p.Val80=) c.196-5148C>T (n.196-5148C>T) c.363C>T (p.Val121=) c.855C>T (p.Val285=) c.339C>T (p.Val113=) n.476C>T c.1005C>T (p.Val335=) c.1002C>T (p.Val334=) c.867C>T (p.Val289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.77482335G>A | CA401208080 | SEPTIN9 | c.859G>A (p.Gly287Arg) c.913G>A (p.Gly305Arg) c.421G>A (p.Gly141Arg) n.217G>A n.962G>A c.160G>A (p.Gly54Arg) c.892G>A (p.Gly298Arg) c.577G>A (p.Gly193Arg) c.241G>A (p.Gly81Arg) c.196-5147G>A (n.196-5147G>A) c.364G>A (p.Gly122Arg) c.160G>A (p.Glu54Lys) c.856G>A (p.Gly286Arg) c.340G>A (p.Gly114Ser) n.477G>A c.1006G>A (p.Gly336Arg) c.1003G>A (p.Gly335Arg) c.868G>A (p.Gly290Arg) | gnomAD v4 |
17 | g.77482335G>C | CA401208079 | SEPTIN9 | c.859G>C (p.Gly287Arg) c.913G>C (p.Gly305Arg) c.421G>C (p.Gly141Arg) n.217G>C n.962G>C c.160G>C (p.Gly54Arg) c.892G>C (p.Gly298Arg) c.577G>C (p.Gly193Arg) c.241G>C (p.Gly81Arg) c.196-5147G>C (n.196-5147G>C) c.364G>C (p.Gly122Arg) c.160G>C (p.Glu54Gln) c.856G>C (p.Gly286Arg) c.340G>C (p.Gly114Arg) n.477G>C c.1006G>C (p.Gly336Arg) c.1003G>C (p.Gly335Arg) c.868G>C (p.Gly290Arg) | |
17 | g.77482335G>T | CA401208078 | SEPTIN9 | c.859G>T (p.Gly287Trp) c.913G>T (p.Gly305Trp) c.421G>T (p.Gly141Trp) n.217G>T n.962G>T c.160G>T (p.Gly54Trp) c.892G>T (p.Gly298Trp) c.577G>T (p.Gly193Trp) c.241G>T (p.Gly81Trp) c.196-5147G>T (n.196-5147G>T) c.364G>T (p.Gly122Trp) c.160G>T (p.Glu54Ter) c.856G>T (p.Gly286Trp) c.340G>T (p.Gly114Cys) n.477G>T c.1006G>T (p.Gly336Trp) c.1003G>T (p.Gly335Trp) c.868G>T (p.Gly290Trp) | |
17 | g.77482336G>A | CA401208081 | SEPTIN9 | c.859+1G>A (n.859+1G>A) c.913+1G>A (n.913+1G>A) c.421+1G>A (n.421+1G>A) n.217+1G>A n.962+1G>A c.160+1G>A (n.160+1G>A) c.892+1G>A (n.892+1G>A) c.577+1G>A (n.577+1G>A) c.241+1G>A (n.241+1G>A) c.196-5146G>A (n.196-5146G>A) c.364+1G>A (n.364+1G>A) c.856+1G>A (n.856+1G>A) c.341G>A (p.Gly114Asp) n.477+1G>A c.1006+1G>A (n.1006+1G>A) c.1003+1G>A (n.1003+1G>A) c.868+1G>A (n.868+1G>A) | |
17 | g.77482336G>C | CA401208082 | SEPTIN9 | c.859+1G>C (n.859+1G>C) c.913+1G>C (n.913+1G>C) c.421+1G>C (n.421+1G>C) n.217+1G>C n.962+1G>C c.160+1G>C (n.160+1G>C) c.892+1G>C (n.892+1G>C) c.577+1G>C (n.577+1G>C) c.241+1G>C (n.241+1G>C) c.196-5146G>C (n.196-5146G>C) c.364+1G>C (n.364+1G>C) c.856+1G>C (n.856+1G>C) c.341G>C (p.Gly114Ala) n.477+1G>C c.1006+1G>C (n.1006+1G>C) c.1003+1G>C (n.1003+1G>C) c.868+1G>C (n.868+1G>C) | |
17 | g.77482336G>T | CA401208083 | SEPTIN9 | c.859+1G>T (n.859+1G>T) c.913+1G>T (n.913+1G>T) c.421+1G>T (n.421+1G>T) n.217+1G>T n.962+1G>T c.160+1G>T (n.160+1G>T) c.892+1G>T (n.892+1G>T) c.577+1G>T (n.577+1G>T) c.241+1G>T (n.241+1G>T) c.196-5146G>T (n.196-5146G>T) c.364+1G>T (n.364+1G>T) c.856+1G>T (n.856+1G>T) c.341G>T (p.Gly114Val) n.477+1G>T c.1006+1G>T (n.1006+1G>T) c.1003+1G>T (n.1003+1G>T) c.868+1G>T (n.868+1G>T) | gnomAD v4 |
17 | g.77482337T>A | CA401208084 | SEPTIN9 | c.859+2T>A (n.859+2T>A) c.913+2T>A (n.913+2T>A) c.421+2T>A (n.421+2T>A) n.217+2T>A n.962+2T>A c.160+2T>A (n.160+2T>A) c.892+2T>A (n.892+2T>A) c.577+2T>A (n.577+2T>A) c.241+2T>A (n.241+2T>A) c.196-5145T>A (n.196-5145T>A) c.364+2T>A (n.364+2T>A) c.856+2T>A (n.856+2T>A) c.342T>A (p.Gly114=) n.477+2T>A c.1006+2T>A (n.1006+2T>A) c.1003+2T>A (n.1003+2T>A) c.868+2T>A (n.868+2T>A) | |
17 | g.77482337T>C | CA401208085 | SEPTIN9 | c.859+2T>C (n.859+2T>C) c.913+2T>C (n.913+2T>C) c.421+2T>C (n.421+2T>C) n.217+2T>C n.962+2T>C c.160+2T>C (n.160+2T>C) c.892+2T>C (n.892+2T>C) c.577+2T>C (n.577+2T>C) c.241+2T>C (n.241+2T>C) c.196-5145T>C (n.196-5145T>C) c.364+2T>C (n.364+2T>C) c.856+2T>C (n.856+2T>C) c.342T>C (p.Gly114=) n.477+2T>C c.1006+2T>C (n.1006+2T>C) c.1003+2T>C (n.1003+2T>C) c.868+2T>C (n.868+2T>C) | |
17 | g.77482337T>G | CA401208086 | SEPTIN9 | c.859+2T>G (n.859+2T>G) c.913+2T>G (n.913+2T>G) c.421+2T>G (n.421+2T>G) n.217+2T>G n.962+2T>G c.160+2T>G (n.160+2T>G) c.892+2T>G (n.892+2T>G) c.577+2T>G (n.577+2T>G) c.241+2T>G (n.241+2T>G) c.196-5145T>G (n.196-5145T>G) c.364+2T>G (n.364+2T>G) c.856+2T>G (n.856+2T>G) c.342T>G (p.Gly114=) n.477+2T>G c.1006+2T>G (n.1006+2T>G) c.1003+2T>G (n.1003+2T>G) c.868+2T>G (n.868+2T>G) | |
17 | g.77482338G>A | CA401208089 | SEPTIN9 | c.859+3G>A (n.859+3G>A) c.913+3G>A (n.913+3G>A) c.421+3G>A (n.421+3G>A) n.217+3G>A n.962+3G>A c.160+3G>A (n.160+3G>A) c.892+3G>A (n.892+3G>A) c.577+3G>A (n.577+3G>A) c.241+3G>A (n.241+3G>A) c.196-5144G>A (n.196-5144G>A) c.364+3G>A (n.364+3G>A) c.856+3G>A (n.856+3G>A) c.343G>A (p.Glu115Lys) n.477+3G>A c.1006+3G>A (n.1006+3G>A) c.1003+3G>A (n.1003+3G>A) c.868+3G>A (n.868+3G>A) | |
17 | g.77482338G>C | CA401208088 | SEPTIN9 | c.859+3G>C (n.859+3G>C) c.913+3G>C (n.913+3G>C) c.421+3G>C (n.421+3G>C) n.217+3G>C n.962+3G>C c.160+3G>C (n.160+3G>C) c.892+3G>C (n.892+3G>C) c.577+3G>C (n.577+3G>C) c.241+3G>C (n.241+3G>C) c.196-5144G>C (n.196-5144G>C) c.364+3G>C (n.364+3G>C) c.856+3G>C (n.856+3G>C) c.343G>C (p.Glu115Gln) n.477+3G>C c.1006+3G>C (n.1006+3G>C) c.1003+3G>C (n.1003+3G>C) c.868+3G>C (n.868+3G>C) | |
17 | g.77482338G>T | CA401208087 | SEPTIN9 | c.859+3G>T (n.859+3G>T) c.913+3G>T (n.913+3G>T) c.421+3G>T (n.421+3G>T) n.217+3G>T n.962+3G>T c.160+3G>T (n.160+3G>T) c.892+3G>T (n.892+3G>T) c.577+3G>T (n.577+3G>T) c.241+3G>T (n.241+3G>T) c.196-5144G>T (n.196-5144G>T) c.364+3G>T (n.364+3G>T) c.856+3G>T (n.856+3G>T) c.343G>T (p.Glu115Ter) n.477+3G>T c.1006+3G>T (n.1006+3G>T) c.1003+3G>T (n.1003+3G>T) c.868+3G>T (n.868+3G>T) | gnomAD v4 |
17 | g.77482339A>C | CA401208090 | SEPTIN9 | c.859+4A>C (n.859+4A>C) c.913+4A>C (n.913+4A>C) c.421+4A>C (n.421+4A>C) n.217+4A>C n.962+4A>C c.160+4A>C (n.160+4A>C) c.892+4A>C (n.892+4A>C) c.577+4A>C (n.577+4A>C) c.241+4A>C (n.241+4A>C) c.196-5143A>C (n.196-5143A>C) c.364+4A>C (n.364+4A>C) c.856+4A>C (n.856+4A>C) c.344A>C (p.Glu115Ala) n.477+4A>C c.1006+4A>C (n.1006+4A>C) c.1003+4A>C (n.1003+4A>C) c.868+4A>C (n.868+4A>C) | |
17 | g.77482339A>G | CA401208092 | SEPTIN9 | c.859+4A>G (n.859+4A>G) c.913+4A>G (n.913+4A>G) c.421+4A>G (n.421+4A>G) n.217+4A>G n.962+4A>G c.160+4A>G (n.160+4A>G) c.892+4A>G (n.892+4A>G) c.577+4A>G (n.577+4A>G) c.241+4A>G (n.241+4A>G) c.196-5143A>G (n.196-5143A>G) c.364+4A>G (n.364+4A>G) c.856+4A>G (n.856+4A>G) c.344A>G (p.Glu115Gly) n.477+4A>G c.1006+4A>G (n.1006+4A>G) c.1003+4A>G (n.1003+4A>G) c.868+4A>G (n.868+4A>G) | |
17 | g.77482339A>T | CA401208091 | SEPTIN9 | c.859+4A>T (n.859+4A>T) c.913+4A>T (n.913+4A>T) c.421+4A>T (n.421+4A>T) n.217+4A>T n.962+4A>T c.160+4A>T (n.160+4A>T) c.892+4A>T (n.892+4A>T) c.577+4A>T (n.577+4A>T) c.241+4A>T (n.241+4A>T) c.196-5143A>T (n.196-5143A>T) c.364+4A>T (n.364+4A>T) c.856+4A>T (n.856+4A>T) c.344A>T (p.Glu115Val) n.477+4A>T c.1006+4A>T (n.1006+4A>T) c.1003+4A>T (n.1003+4A>T) c.868+4A>T (n.868+4A>T) | |
17 | g.77482340G>A | CA2640084006 | SEPTIN9 | c.859+5G>A (n.859+5G>A) c.913+5G>A (n.913+5G>A) c.421+5G>A (n.421+5G>A) n.217+5G>A n.962+5G>A c.160+5G>A (n.160+5G>A) c.892+5G>A (n.892+5G>A) c.577+5G>A (n.577+5G>A) c.241+5G>A (n.241+5G>A) c.196-5142G>A (n.196-5142G>A) c.364+5G>A (n.364+5G>A) c.856+5G>A (n.856+5G>A) c.345G>A (p.Glu115=) n.477+5G>A c.1006+5G>A (n.1006+5G>A) c.1003+5G>A (n.1003+5G>A) c.868+5G>A (n.868+5G>A) | gnomAD v4 |
17 | g.77482340G>C | CA401208093 | SEPTIN9 | c.859+5G>C (n.859+5G>C) c.913+5G>C (n.913+5G>C) c.421+5G>C (n.421+5G>C) n.217+5G>C n.962+5G>C c.160+5G>C (n.160+5G>C) c.892+5G>C (n.892+5G>C) c.577+5G>C (n.577+5G>C) c.241+5G>C (n.241+5G>C) c.196-5142G>C (n.196-5142G>C) c.364+5G>C (n.364+5G>C) c.856+5G>C (n.856+5G>C) c.345G>C (p.Glu115Asp) n.477+5G>C c.1006+5G>C (n.1006+5G>C) c.1003+5G>C (n.1003+5G>C) c.868+5G>C (n.868+5G>C) | |
17 | g.77482340G>T | CA401208094 | SEPTIN9 | c.859+5G>T (n.859+5G>T) c.913+5G>T (n.913+5G>T) c.421+5G>T (n.421+5G>T) n.217+5G>T n.962+5G>T c.160+5G>T (n.160+5G>T) c.892+5G>T (n.892+5G>T) c.577+5G>T (n.577+5G>T) c.241+5G>T (n.241+5G>T) c.196-5142G>T (n.196-5142G>T) c.364+5G>T (n.364+5G>T) c.856+5G>T (n.856+5G>T) c.345G>T (p.Glu115Asp) n.477+5G>T c.1006+5G>T (n.1006+5G>T) c.1003+5G>T (n.1003+5G>T) c.868+5G>T (n.868+5G>T) | gnomAD v4 |
17 | g.77482341del | CA2734008733 | SEPTIN9 | c.859+6del (n.859+6del) c.913+6del (n.913+6del) c.421+6del (n.421+6del) n.217+6del n.962+6del c.160+6del (n.160+6del) c.892+6del (n.892+6del) c.577+6del (n.577+6del) c.241+6del (n.241+6del) c.196-5141del (n.196-5141del) c.364+6del (n.364+6del) c.856+6del (n.856+6del) c.346del (p.Ser116ProfsTer?) n.477+6del c.1006+6del (n.1006+6del) c.1003+6del (n.1003+6del) c.868+6del (n.868+6del) | dbSNP |
17 | g.77482341T>A | CA401208095 | SEPTIN9 | c.859+6T>A (n.859+6T>A) c.913+6T>A (n.913+6T>A) c.421+6T>A (n.421+6T>A) n.217+6T>A n.962+6T>A c.160+6T>A (n.160+6T>A) c.892+6T>A (n.892+6T>A) c.577+6T>A (n.577+6T>A) c.241+6T>A (n.241+6T>A) c.196-5141T>A (n.196-5141T>A) c.364+6T>A (n.364+6T>A) c.856+6T>A (n.856+6T>A) c.346T>A (p.Ser116Thr) n.477+6T>A c.1006+6T>A (n.1006+6T>A) c.1003+6T>A (n.1003+6T>A) c.868+6T>A (n.868+6T>A) | |
17 | g.77482341T>C | CA401208096 | SEPTIN9 | c.859+6T>C (n.859+6T>C) c.913+6T>C (n.913+6T>C) c.421+6T>C (n.421+6T>C) n.217+6T>C n.962+6T>C c.160+6T>C (n.160+6T>C) c.892+6T>C (n.892+6T>C) c.577+6T>C (n.577+6T>C) c.241+6T>C (n.241+6T>C) c.196-5141T>C (n.196-5141T>C) c.364+6T>C (n.364+6T>C) c.856+6T>C (n.856+6T>C) c.346T>C (p.Ser116Pro) n.477+6T>C c.1006+6T>C (n.1006+6T>C) c.1003+6T>C (n.1003+6T>C) c.868+6T>C (n.868+6T>C) | |
17 | g.77482341T>G | CA401208097 | SEPTIN9 | c.859+6T>G (n.859+6T>G) c.913+6T>G (n.913+6T>G) c.421+6T>G (n.421+6T>G) n.217+6T>G n.962+6T>G c.160+6T>G (n.160+6T>G) c.892+6T>G (n.892+6T>G) c.577+6T>G (n.577+6T>G) c.241+6T>G (n.241+6T>G) c.196-5141T>G (n.196-5141T>G) c.364+6T>G (n.364+6T>G) c.856+6T>G (n.856+6T>G) c.346T>G (p.Ser116Ala) n.477+6T>G c.1006+6T>G (n.1006+6T>G) c.1003+6T>G (n.1003+6T>G) c.868+6T>G (n.868+6T>G) | |
17 | g.77482342C>A | CA401208098 | SEPTIN9 | c.859+7C>A (n.859+7C>A) c.913+7C>A (n.913+7C>A) c.421+7C>A (n.421+7C>A) n.217+7C>A n.962+7C>A c.160+7C>A (n.160+7C>A) c.892+7C>A (n.892+7C>A) c.577+7C>A (n.577+7C>A) c.241+7C>A (n.241+7C>A) c.196-5140C>A (n.196-5140C>A) c.364+7C>A (n.364+7C>A) c.856+7C>A (n.856+7C>A) c.347C>A (p.Ser116Tyr) n.477+7C>A c.1006+7C>A (n.1006+7C>A) c.1003+7C>A (n.1003+7C>A) c.868+7C>A (n.868+7C>A) | |
17 | g.77482342C>G | CA401208099 | SEPTIN9 | c.859+7C>G (n.859+7C>G) c.913+7C>G (n.913+7C>G) c.421+7C>G (n.421+7C>G) n.217+7C>G n.962+7C>G c.160+7C>G (n.160+7C>G) c.892+7C>G (n.892+7C>G) c.577+7C>G (n.577+7C>G) c.241+7C>G (n.241+7C>G) c.196-5140C>G (n.196-5140C>G) c.364+7C>G (n.364+7C>G) c.856+7C>G (n.856+7C>G) c.347C>G (p.Ser116Cys) n.477+7C>G c.1006+7C>G (n.1006+7C>G) c.1003+7C>G (n.1003+7C>G) c.868+7C>G (n.868+7C>G) | |
17 | g.77482342C>T | CA401208100 | SEPTIN9 | c.859+7C>T (n.859+7C>T) c.913+7C>T (n.913+7C>T) c.421+7C>T (n.421+7C>T) n.217+7C>T n.962+7C>T c.160+7C>T (n.160+7C>T) c.892+7C>T (n.892+7C>T) c.577+7C>T (n.577+7C>T) c.241+7C>T (n.241+7C>T) c.196-5140C>T (n.196-5140C>T) c.364+7C>T (n.364+7C>T) c.856+7C>T (n.856+7C>T) c.347C>T (p.Ser116Phe) n.477+7C>T c.1006+7C>T (n.1006+7C>T) c.1003+7C>T (n.1003+7C>T) c.868+7C>T (n.868+7C>T) | |
17 | g.77482344T>A | CA401208101 | SEPTIN9 | c.859+9T>A (n.859+9T>A) c.913+9T>A (n.913+9T>A) c.421+9T>A (n.421+9T>A) n.217+9T>A n.962+9T>A c.160+9T>A (n.160+9T>A) c.892+9T>A (n.892+9T>A) c.577+9T>A (n.577+9T>A) c.241+9T>A (n.241+9T>A) c.196-5138T>A (n.196-5138T>A) c.364+9T>A (n.364+9T>A) c.856+9T>A (n.856+9T>A) c.349T>A (p.Ser117Thr) n.477+9T>A c.1006+9T>A (n.1006+9T>A) c.1003+9T>A (n.1003+9T>A) c.868+9T>A (n.868+9T>A) | |
17 | g.77482344T>C | CA401208102 | SEPTIN9 | c.859+9T>C (n.859+9T>C) c.913+9T>C (n.913+9T>C) c.421+9T>C (n.421+9T>C) n.217+9T>C n.962+9T>C c.160+9T>C (n.160+9T>C) c.892+9T>C (n.892+9T>C) c.577+9T>C (n.577+9T>C) c.241+9T>C (n.241+9T>C) c.196-5138T>C (n.196-5138T>C) c.364+9T>C (n.364+9T>C) c.856+9T>C (n.856+9T>C) c.349T>C (p.Ser117Pro) n.477+9T>C c.1006+9T>C (n.1006+9T>C) c.1003+9T>C (n.1003+9T>C) c.868+9T>C (n.868+9T>C) | |
17 | g.77482344T>G | CA401208103 | SEPTIN9 | c.859+9T>G (n.859+9T>G) c.913+9T>G (n.913+9T>G) c.421+9T>G (n.421+9T>G) n.217+9T>G n.962+9T>G c.160+9T>G (n.160+9T>G) c.892+9T>G (n.892+9T>G) c.577+9T>G (n.577+9T>G) c.241+9T>G (n.241+9T>G) c.196-5138T>G (n.196-5138T>G) c.364+9T>G (n.364+9T>G) c.856+9T>G (n.856+9T>G) c.349T>G (p.Ser117Ala) n.477+9T>G c.1006+9T>G (n.1006+9T>G) c.1003+9T>G (n.1003+9T>G) c.868+9T>G (n.868+9T>G) | |
17 | g.77482344dup | CA2640084007 | SEPTIN9 | c.859+9dup (n.859+9dup) c.913+9dup (n.913+9dup) c.421+9dup (n.421+9dup) n.217+9dup n.962+9dup c.160+9dup (n.160+9dup) c.892+9dup (n.892+9dup) c.577+9dup (n.577+9dup) c.241+9dup (n.241+9dup) c.196-5138dup (n.196-5138dup) c.364+9dup (n.364+9dup) c.856+9dup (n.856+9dup) c.349dup (p.Ser117PhefsTer?) n.477+9dup c.1006+9dup (n.1006+9dup) c.1003+9dup (n.1003+9dup) c.868+9dup (n.868+9dup) | gnomAD v4 |