Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.95247696T>ACA371838236CFAP418c.545A>T (p.Gln182Leu)
c.788A>T (p.Gln263Leu)
c.449A>T (p.Gln150Leu)
 COSMIC
8g.95247696T>CCA129739CFAP418c.545A>G (p.Gln182Arg)
c.788A>G (p.Gln263Arg)
c.449A>G (p.Gln150Arg)
 ClinVar dbSNP
8g.95247696T>GCA371838237CFAP418c.545A>C (p.Gln182Pro)
c.788A>C (p.Gln263Pro)
c.449A>C (p.Gln150Pro)
8g.95247696T=CA1803868016CFAP418c.545A= (p.Gln182=)
c.788A= (p.Gln263=)
c.449A= (p.Gln150=)
8g.95247697G>ACA371838238CFAP418c.544C>T (p.Gln182Ter)
c.787C>T (p.Gln263Ter)
c.448C>T (p.Gln150Ter)
8g.95247697G>CCA371838239CFAP418c.544C>G (p.Gln182Glu)
c.787C>G (p.Gln263Glu)
c.448C>G (p.Gln150Glu)
8g.95247697G>TCA371838240CFAP418c.544C>A (p.Gln182Lys)
c.787C>A (p.Gln263Lys)
c.448C>A (p.Gln150Lys)
8g.95247698G>ACA462360844CFAP418c.543C>T (p.Cys181=)
c.786C>T (p.Cys262=)
c.447C>T (p.Cys149=)
 gnomAD v4
8g.95247698G>CCA371838241CFAP418c.543C>G (p.Cys181Trp)
c.786C>G (p.Cys262Trp)
c.447C>G (p.Cys149Trp)
8g.95247698G>TCA371838242CFAP418c.543C>A (p.Cys181Ter)
c.786C>A (p.Cys262Ter)
c.447C>A (p.Cys149Ter)
8g.95247699C>ACA371838245CFAP418c.542G>T (p.Cys181Phe)
c.785G>T (p.Cys262Phe)
c.446G>T (p.Cys149Phe)
8g.95247699C>GCA371838244CFAP418c.542G>C (p.Cys181Ser)
c.785G>C (p.Cys262Ser)
c.446G>C (p.Cys149Ser)
8g.95247699C>TCA371838243CFAP418c.542G>A (p.Cys181Tyr)
c.785G>A (p.Cys262Tyr)
c.446G>A (p.Cys149Tyr)
8g.95247700A>CCA371838246CFAP418c.541T>G (p.Cys181Gly)
c.784T>G (p.Cys262Gly)
c.445T>G (p.Cys149Gly)
8g.95247700A>GCA371838247CFAP418c.541T>C (p.Cys181Arg)
c.784T>C (p.Cys262Arg)
c.445T>C (p.Cys149Arg)
8g.95247700A>TCA371838248CFAP418c.541T>A (p.Cys181Ser)
c.784T>A (p.Cys262Ser)
c.445T>A (p.Cys149Ser)
8g.95247701G>ACA462360845CFAP418c.540C>T (p.Ala180=)
c.783C>T (p.Ala261=)
c.444C>T (p.Ala148=)
8g.95247701G>CCA462360846CFAP418c.540C>G (p.Ala180=)
c.783C>G (p.Ala261=)
c.444C>G (p.Ala148=)
8g.95247701G>TCA462360847CFAP418c.540C>A (p.Ala180=)
c.783C>A (p.Ala261=)
c.444C>A (p.Ala148=)
8g.95247702G>ACA371838249CFAP418c.539C>T (p.Ala180Val)
c.782C>T (p.Ala261Val)
c.443C>T (p.Ala148Val)
8g.95247702G>CCA371838250CFAP418c.539C>G (p.Ala180Gly)
c.782C>G (p.Ala261Gly)
c.443C>G (p.Ala148Gly)
8g.95247702G>TCA371838251CFAP418c.539C>A (p.Ala180Asp)
c.782C>A (p.Ala261Asp)
c.443C>A (p.Ala148Asp)
8g.95247703C>ACA371838252CFAP418c.538G>T (p.Ala180Ser)
c.781G>T (p.Ala261Ser)
c.442G>T (p.Ala148Ser)
 gnomAD v4
8g.95247703C>GCA371838253CFAP418c.538G>C (p.Ala180Pro)
c.781G>C (p.Ala261Pro)
c.442G>C (p.Ala148Pro)
8g.95247703C>TCA371838254CFAP418c.538G>A (p.Ala180Thr)
c.781G>A (p.Ala261Thr)
c.442G>A (p.Ala148Thr)
8g.95247704A=CA1803868020CFAP418c.537T= (p.Tyr179=)
c.780T= (p.Tyr260=)
c.441T= (p.Tyr147=)
8g.95247704A>CCA371838255CFAP418c.537T>G (p.Tyr179Ter)
c.780T>G (p.Tyr260Ter)
c.441T>G (p.Tyr147Ter)
8g.95247704A>GCA462360848CFAP418c.537T>C (p.Tyr179=)
c.780T>C (p.Tyr260=)
c.441T>C (p.Tyr147=)
8g.95247704A>TCA371838256CFAP418c.537T>A (p.Tyr179Ter)
c.780T>A (p.Tyr260Ter)
c.441T>A (p.Tyr147Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.95247705T>ACA371838258CFAP418c.536A>T (p.Tyr179Phe)
c.779A>T (p.Tyr260Phe)
c.440A>T (p.Tyr147Phe)
8g.95247705T>CCA371838259CFAP418c.536A>G (p.Tyr179Cys)
c.779A>G (p.Tyr260Cys)
c.440A>G (p.Tyr147Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.95247705T>GCA371838257CFAP418c.536A>C (p.Tyr179Ser)
c.779A>C (p.Tyr260Ser)
c.440A>C (p.Tyr147Ser)
8g.95247705T=CA1803868028CFAP418c.536A= (p.Tyr179=)
c.779A= (p.Tyr260=)
c.440A= (p.Tyr147=)
8g.95247706A=CA1803868035CFAP418c.535T= (p.Tyr179=)
c.778T= (p.Tyr260=)
c.439T= (p.Tyr147=)
8g.95247706A>CCA371838260CFAP418c.535T>G (p.Tyr179Asp)
c.778T>G (p.Tyr260Asp)
c.439T>G (p.Tyr147Asp)
8g.95247706A>GCA371838261CFAP418c.535T>C (p.Tyr179His)
c.778T>C (p.Tyr260His)
c.439T>C (p.Tyr147His)
 dbSNP
8g.95247706A>TCA371838262CFAP418c.535T>A (p.Tyr179Asn)
c.778T>A (p.Tyr260Asn)
c.439T>A (p.Tyr147Asn)
8g.95247707T>ACA462360849CFAP418c.534A>T (p.Ala178=)
c.777A>T (p.Ala259=)
c.438A>T (p.Ala146=)
8g.95247707T>CCA4815115CFAP418c.534A>G (p.Ala178=)
c.777A>G (p.Ala259=)
c.438A>G (p.Ala146=)
 dbSNP ExAC gnomAD v4
8g.95247707T>GCA462360850CFAP418c.534A>C (p.Ala178=)
c.777A>C (p.Ala259=)
c.438A>C (p.Ala146=)
8g.95247707T=CA1803868039CFAP418c.534A= (p.Ala178=)
c.777A= (p.Ala259=)
c.438A= (p.Ala146=)
8g.95247708G>ACA4815116CFAP418c.533C>T (p.Ala178Val)
c.776C>T (p.Ala259Val)
c.437C>T (p.Ala146Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.95247708G>CCA371838263CFAP418c.533C>G (p.Ala178Gly)
c.776C>G (p.Ala259Gly)
c.437C>G (p.Ala146Gly)
8g.95247708G=CA1803868046CFAP418c.533C= (p.Ala178=)
c.776C= (p.Ala259=)
c.437C= (p.Ala146=)
8g.95247708G>TCA371838264CFAP418c.533C>A (p.Ala178Glu)
c.776C>A (p.Ala259Glu)
c.437C>A (p.Ala146Glu)
8g.95247709C>ACA371838265CFAP418c.532G>T (p.Ala178Ser)
c.775G>T (p.Ala259Ser)
c.436G>T (p.Ala146Ser)
8g.95247709C=CA1803868051CFAP418c.532G= (p.Ala178=)
c.775G= (p.Ala259=)
c.436G= (p.Ala146=)
8g.95247709C>GCA371838266CFAP418c.532G>C (p.Ala178Pro)
c.775G>C (p.Ala259Pro)
c.436G>C (p.Ala146Pro)
8g.95247709C>TCA371838267CFAP418c.532G>A (p.Ala178Thr)
c.775G>A (p.Ala259Thr)
c.436G>A (p.Ala146Thr)
 dbSNP gnomAD v4
8g.95247710C>ACA462360853CFAP418c.531G>T (p.Arg177=)
c.774G>T (p.Arg258=)
c.435G>T (p.Arg145=)

Number of alleles fetched