Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.49061306G>ACA309446274NTF4n.692C>T (p.=)
c.243+449C>T (p.=)
c.*59C>T (p.=)
dbSNP
19g.49061308T>CCA883074728NTF4n.690A>G (p.=)
c.243+447A>G (p.=)
c.*57A>G (p.=)
19g.49061309G>ACA996661761NTF4n.689C>T (p.=)
c.243+446C>T (p.=)
c.*56C>T (p.=)
19g.49061315T>ACA9565579NTF4n.683A>T (p.=)
c.243+440A>T (p.=)
c.*50A>T (p.=)
dbSNP ExAC gnomAD
19g.49061317C>TCA633889977NTF4n.681G>A (p.=)
c.243+438G>A (p.=)
c.*48G>A (p.=)
gnomAD
19g.49061320G>ACA9565580NTF4n.678C>T (p.=)
c.243+435C>T (p.=)
c.*45C>T (p.=)
dbSNP ExAC gnomAD
19g.49061322G>ACA883074736NTF4n.676C>T (p.=)
c.243+433C>T (p.=)
c.*43C>T (p.=)
19g.49061323G>TCA883074737NTF4n.675C>A (p.=)
c.243+432C>A (p.=)
c.*42C>A (p.=)
19g.49061326T>CCA883074738NTF4n.672A>G (p.=)
c.243+429A>G (p.=)
c.*39A>G (p.=)
19g.49061327C>GCA633889978NTF4n.671G>C (p.=)
c.243+428G>C (p.=)
c.*38G>C (p.=)
gnomAD
19g.49061336C>TCA996661765NTF4n.662G>A (p.=)
c.243+419G>A (p.=)
c.*29G>A (p.=)
19g.49061338G>ACA633889979NTF4n.660C>T (p.=)
c.243+417C>T (p.=)
c.*27C>T (p.=)
gnomAD
19g.49061339C>TCA9565581NTF4n.659G>A (p.=)
c.243+416G>A (p.=)
c.*26G>A (p.=)
dbSNP ExAC gnomAD
19g.49061340T>CCA9565582NTF4n.658A>G (p.=)
c.243+415A>G (p.=)
c.*25A>G (p.=)
dbSNP ExAC gnomAD
19g.49061343G>ACA9565583NTF4n.655C>T (p.=)
c.243+412C>T (p.=)
c.*22C>T (p.=)
dbSNP ExAC gnomAD
19g.49061344T>GCA9565584NTF4n.654A>C (p.=)
c.243+411A>C (p.=)
c.*21A>C (p.=)
dbSNP ExAC gnomAD
19g.49061350T>CCA309446312NTF4n.648A>G (p.=)
c.243+405A>G (p.=)
c.*15A>G (p.=)
dbSNP
19g.49061352C>GCA9565585NTF4n.646G>C (p.=)
c.243+403G>C (p.=)
c.*13G>C (p.=)
dbSNP ExAC gnomAD
19g.49061356G>ACA996661770NTF4n.642C>T (p.=)
c.243+399C>T (p.=)
c.*9C>T (p.=)
19g.49061356G>TCA9565586NTF4n.642C>A (p.=)
c.243+399C>A (p.=)
c.*9C>A (p.=)
dbSNP ExAC gnomAD
19g.49061358A>GCA9565587NTF4n.640T>C (p.=)
c.243+397T>C (p.=)
c.*7T>C (p.=)
dbSNP ExAC gnomAD
19g.49061362G>ACA9565588c.243+393C>T (p.=)
dbSNP ExAC gnomAD
19g.49061365T>ACA406804679NTF4n.633A>T (p.Ter211Cys)
c.243+390A>T (p.=)
c.633A>T (p.Ter211Cys)
c.663A>T (p.Ter221Cys)
19g.49061365T>CCA406804680NTF4n.633A>G (p.Ter211Trp)
c.243+390A>G (p.=)
c.633A>G (p.Ter211Trp)
c.663A>G (p.Ter221Trp)
19g.49061365T>GCA406804682NTF4n.633A>C (p.Ter211Cys)
c.243+390A>C (p.=)
c.633A>C (p.Ter211Cys)
c.663A>C (p.Ter221Cys)
19g.49061366C>ACA406804684NTF4n.632G>T (p.Ter211Leu)
c.243+389G>T (p.=)
c.632G>T (p.Ter211Leu)
c.662G>T (p.Ter221Leu)
19g.49061366C>GCA406804687NTF4n.632G>C (p.Ter211Ser)
c.243+389G>C (p.=)
c.632G>C (p.Ter211Ser)
c.662G>C (p.Ter221Ser)
19g.49061366C>TCA508278605NTF4n.632G>A (p.Ter211=)
c.243+389G>A (p.=)
c.632G>A (p.Ter211=)
c.662G>A (p.Ter221=)
19g.49061367A>CCA406804689NTF4n.631T>G (p.Ter211Gly)
c.243+388T>G (p.=)
c.631T>G (p.Ter211Gly)
c.661T>G (p.Ter221Gly)
19g.49061367A>GCA406804690NTF4n.631T>C (p.Ter211Arg)
c.243+388T>C (p.=)
c.631T>C (p.Ter211Arg)
c.661T>C (p.Ter221Arg)
19g.49061367A>TCA406804692NTF4n.631T>A (p.Ter211Arg)
c.243+388T>A (p.=)
c.631T>A (p.Ter211Arg)
c.661T>A (p.Ter221Arg)
19g.49061368G>ACA508278609NTF4n.630C>T (p.Ala210=)
c.243+387C>T (p.=)
c.630C>T (p.Ala210=)
c.660C>T (p.Ala220=)
19g.49061368G>CCA508278611NTF4n.630C>G (p.Ala210=)
c.243+387C>G (p.=)
c.630C>G (p.Ala210=)
c.660C>G (p.Ala220=)
19g.49061368G>TCA508278613NTF4n.630C>A (p.Ala210=)
c.243+387C>A (p.=)
c.630C>A (p.Ala210=)
c.660C>A (p.Ala220=)
19g.49061369G>ACA406804694NTF4n.629C>T (p.Ala210Val)
c.243+386C>T (p.=)
c.629C>T (p.Ala210Val)
c.659C>T (p.Ala220Val)
19g.49061369G>CCA406804695NTF4n.629C>G (p.Ala210Gly)
c.243+386C>G (p.=)
c.629C>G (p.Ala210Gly)
c.659C>G (p.Ala220Gly)
19g.49061369G>TCA9565589NTF4n.629C>A (p.Ala210Asp)
c.243+386C>A (p.=)
c.629C>A (p.Ala210Asp)
c.659C>A (p.Ala220Asp)
dbSNP ExAC gnomAD
19g.49061370C>ACA406804698NTF4n.628G>T (p.Ala210Ser)
c.243+385G>T (p.=)
c.628G>T (p.Ala210Ser)
c.658G>T (p.Ala220Ser)
19g.49061370C>GCA406804700NTF4n.628G>C (p.Ala210Pro)
c.243+385G>C (p.=)
c.628G>C (p.Ala210Pro)
c.658G>C (p.Ala220Pro)
19g.49061370C>TCA9565590NTF4n.628G>A (p.Ala210Thr)
c.243+385G>A (p.=)
c.628G>A (p.Ala210Thr)
c.658G>A (p.Ala220Thr)
dbSNP ExAC gnomAD
19g.49061371C>ACA508278618NTF4n.627G>T (p.Arg209=)
c.243+384G>T (p.=)
c.627G>T (p.Arg209=)
c.657G>T (p.Arg219=)
19g.49061371C>GCA508278619NTF4n.627G>C (p.Arg209=)
c.243+384G>C (p.=)
c.627G>C (p.Arg209=)
c.657G>C (p.Arg219=)
19g.49061371C>TCA508278620NTF4n.627G>A (p.Arg209=)
c.243+384G>A (p.=)
c.627G>A (p.Arg209=)
c.657G>A (p.Arg219=)
19g.49061372C>ACA406804702NTF4n.626G>T (p.Arg209Leu)
c.243+383G>T (p.=)
c.626G>T (p.Arg209Leu)
c.656G>T (p.Arg219Leu)
19g.49061372C>GCA406804703NTF4n.626G>C (p.Arg209Pro)
c.243+383G>C (p.=)
c.626G>C (p.Arg209Pro)
c.656G>C (p.Arg219Pro)
19g.49061372C>TCA9565591NTF4n.626G>A (p.Arg209Gln)
c.243+383G>A (p.=)
c.626G>A (p.Arg209Gln)
c.656G>A (p.Arg219Gln)
dbSNP ExAC gnomAD COSMIC
19g.49061373G>ACA9565593NTF4n.625C>T (p.Arg209Trp)
c.243+382C>T (p.=)
c.625C>T (p.Arg209Trp)
c.655C>T (p.Arg219Trp)
dbSNP ExAC gnomAD COSMIC
19g.49061373G>CCA9565592NTF4n.625C>G (p.Arg209Gly)
c.243+382C>G (p.=)
c.625C>G (p.Arg209Gly)
c.655C>G (p.Arg219Gly)
dbSNP ExAC gnomAD
19g.49061373G>TCA508278624NTF4n.625C>A (p.Arg209=)
c.243+382C>A (p.=)
c.625C>A (p.Arg209=)
c.655C>A (p.Arg219=)
19g.49061373delCA633889998NTF4n.624del (p.Arg209GlyfsTer15)
c.243+381del (p.=)
c.624del (p.Arg209GlyfsTer15)
c.654del (p.Arg219GlyfsTer15)
dbSNP gnomAD

Number of alleles fetched