Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31598648_31598652delinsCAACA2499307109TTRc.417_421delinsCAA (p.Ala140AsnfsTer?)
c.321_325delinsCAA (p.Ala108AsnfsTer?)
c.531_535delinsCAA (p.Ala178AsnfsTer?)
c.393_397delinsCAA (p.Ala132AsnfsTer?)
18g.31598651_31598654delinsTGTCCA2293889373TTRc.420_423delinsTGTC (p.Ala140=)
c.324_327delinsTGTC (p.Ala108=)
c.534_537delinsTGTC (p.Ala178=)
c.396_399delinsTGTC (p.Ala132=)
18g.31598652G>ACA402158274TTRc.421G>A (p.Val141Ile)
c.325G>A (p.Val109Ile)
c.535G>A (p.Val179Ile)
c.397G>A (p.Val133Ile)
gnomAD v4
18g.31598652G>CCA402158273TTRc.421G>C (p.Val141Leu)
c.325G>C (p.Val109Leu)
c.535G>C (p.Val179Leu)
c.397G>C (p.Val133Leu)
18g.31598652G>TCA402158272TTRc.421G>T (p.Val141Phe)
c.325G>T (p.Val109Phe)
c.535G>T (p.Val179Phe)
c.397G>T (p.Val133Phe)
18g.31598655_31598657delCA256856TTRc.424_426del (p.Val142del)
c.328_330del (p.Val110del)
c.538_540del (p.Val180del)
c.400_402del (p.Val134del)
dbSNP
18g.31598653T>ACA402158275TTRc.422T>A (p.Val141Asp)
c.326T>A (p.Val109Asp)
c.536T>A (p.Val179Asp)
c.398T>A (p.Val133Asp)
18g.31598653T>CCA402158277TTRc.422T>C (p.Val141Ala)
c.326T>C (p.Val109Ala)
c.536T>C (p.Val179Ala)
c.398T>C (p.Val133Ala)
gnomAD v4
18g.31598653T>GCA402158276TTRc.422T>G (p.Val141Gly)
c.326T>G (p.Val109Gly)
c.536T>G (p.Val179Gly)
c.398T>G (p.Val133Gly)
18g.31598654C>ACA503610961TTRc.423C>A (p.Val141=)
c.327C>A (p.Val109=)
c.537C>A (p.Val179=)
c.399C>A (p.Val133=)
18g.31598654C=CA2293889374TTRc.423C= (p.Val141=)
c.327C= (p.Val109=)
c.537C= (p.Val179=)
c.399C= (p.Val133=)
18g.31598654C>GCA503610963TTRc.423C>G (p.Val141=)
c.327C>G (p.Val109=)
c.537C>G (p.Val179=)
c.399C>G (p.Val133=)
18g.31598654C>TCA8928513TTRc.423C>T (p.Val141=)
c.327C>T (p.Val109=)
c.537C>T (p.Val179=)
c.399C>T (p.Val133=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31598655G>ACA214382TTRc.424G>A (p.Val142Ile)
c.328G>A (p.Val110Ile)
c.538G>A (p.Val180Ile)
c.400G>A (p.Val134Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598655G>CCA402158279TTRc.424G>C (p.Val142Leu)
c.328G>C (p.Val110Leu)
c.538G>C (p.Val180Leu)
c.400G>C (p.Val134Leu)
18g.31598655G=CA2293889375TTRc.424G= (p.Val142=)
c.328G= (p.Val110=)
c.538G= (p.Val180=)
c.400G= (p.Val134=)
18g.31598655G>TCA402158278TTRc.424G>T (p.Val142Phe)
c.328G>T (p.Val110Phe)
c.538G>T (p.Val180Phe)
c.400G>T (p.Val134Phe)
18g.31598656T>ACA402158280TTRc.425T>A (p.Val142Asp)
c.329T>A (p.Val110Asp)
c.539T>A (p.Val180Asp)
c.401T>A (p.Val134Asp)
18g.31598656T>CCA402158281TTRc.425T>C (p.Val142Ala)
c.329T>C (p.Val110Ala)
c.539T>C (p.Val180Ala)
c.401T>C (p.Val134Ala)
ClinVar dbSNP
18g.31598656T>GCA402158282TTRc.425T>G (p.Val142Gly)
c.329T>G (p.Val110Gly)
c.539T>G (p.Val180Gly)
c.401T>G (p.Val134Gly)
18g.31598657C>ACA503610965TTRc.426C>A (p.Val142=)
c.330C>A (p.Val110=)
c.540C>A (p.Val180=)
c.402C>A (p.Val134=)
18g.31598657C=CA2293889376TTRc.426C= (p.Val142=)
c.330C= (p.Val110=)
c.540C= (p.Val180=)
c.402C= (p.Val134=)
18g.31598657C>GCA503610966TTRc.426C>G (p.Val142=)
c.330C>G (p.Val110=)
c.540C>G (p.Val180=)
c.402C>G (p.Val134=)
18g.31598657C>TCA297742017TTRc.426C>T (p.Val142=)
c.330C>T (p.Val110=)
c.540C>T (p.Val180=)
c.402C>T (p.Val134=)
dbSNP
18g.31598658A>CCA402158283TTRc.427A>C (p.Thr143Pro)
c.331A>C (p.Thr111Pro)
c.541A>C (p.Thr181Pro)
c.403A>C (p.Thr135Pro)
18g.31598658A>GCA402158284TTRc.427A>G (p.Thr143Ala)
c.331A>G (p.Thr111Ala)
c.541A>G (p.Thr181Ala)
c.403A>G (p.Thr135Ala)
gnomAD v4
18g.31598658A>TCA402158285TTRc.427A>T (p.Thr143Ser)
c.331A>T (p.Thr111Ser)
c.541A>T (p.Thr181Ser)
c.403A>T (p.Thr135Ser)
gnomAD v4
18g.31598658_31598664delinsACCAATCCA2293889377TTRc.427_433delinsACCAATC (p.Thr143=)
c.331_337delinsACCAATC (p.Thr111=)
c.541_547delinsACCAATC (p.Thr181=)
c.403_409delinsACCAATC (p.Thr135=)
18g.31598659C>ACA402158286TTRc.428C>A (p.Thr143Asn)
c.332C>A (p.Thr111Asn)
c.542C>A (p.Thr181Asn)
c.404C>A (p.Thr135Asn)
18g.31598659C>GCA402158287TTRc.428C>G (p.Thr143Ser)
c.332C>G (p.Thr111Ser)
c.542C>G (p.Thr181Ser)
c.404C>G (p.Thr135Ser)
18g.31598659C>TCA402158288TTRc.428C>T (p.Thr143Ile)
c.332C>T (p.Thr111Ile)
c.542C>T (p.Thr181Ile)
c.404C>T (p.Thr135Ile)
18g.31598663_31598668delCA10641397TTRc.432_437del (p.Asn144_Pro145del)
c.336_341del (p.Asn112_Pro113del)
c.546_551del (p.Asn182_Pro183del)
c.408_413del (p.Asn136_Pro137del)
ClinVar dbSNP
18g.31598660C>ACA503610969TTRc.429C>A (p.Thr143=)
c.333C>A (p.Thr111=)
c.543C>A (p.Thr181=)
c.405C>A (p.Thr135=)
18g.31598660C>GCA503610970TTRc.429C>G (p.Thr143=)
c.333C>G (p.Thr111=)
c.543C>G (p.Thr181=)
c.405C>G (p.Thr135=)
18g.31598660C>TCA503610971TTRc.429C>T (p.Thr143=)
c.333C>T (p.Thr111=)
c.543C>T (p.Thr181=)
c.405C>T (p.Thr135=)
18g.31598661A>CCA402158291TTRc.430A>C (p.Asn144His)
c.334A>C (p.Asn112His)
c.544A>C (p.Asn182His)
c.406A>C (p.Asn136His)
18g.31598661A>GCA402158290TTRc.430A>G (p.Asn144Asp)
c.334A>G (p.Asn112Asp)
c.544A>G (p.Asn182Asp)
c.406A>G (p.Asn136Asp)
18g.31598661A>TCA402158289TTRc.430A>T (p.Asn144Tyr)
c.334A>T (p.Asn112Tyr)
c.544A>T (p.Asn182Tyr)
c.406A>T (p.Asn136Tyr)
18g.31598662A=CA2293889378TTRc.431A= (p.Asn144=)
c.335A= (p.Asn112=)
c.545A= (p.Asn182=)
c.407A= (p.Asn136=)
18g.31598662A>CCA402158292TTRc.431A>C (p.Asn144Thr)
c.335A>C (p.Asn112Thr)
c.545A>C (p.Asn182Thr)
c.407A>C (p.Asn136Thr)
18g.31598662A>GCA8928514TTRc.431A>G (p.Asn144Ser)
c.335A>G (p.Asn112Ser)
c.545A>G (p.Asn182Ser)
c.407A>G (p.Asn136Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598662A>TCA402158293TTRc.431A>T (p.Asn144Ile)
c.335A>T (p.Asn112Ile)
c.545A>T (p.Asn182Ile)
c.407A>T (p.Asn136Ile)
dbSNP
18g.31598663T>ACA402158294TTRc.432T>A (p.Asn144Lys)
c.336T>A (p.Asn112Lys)
c.546T>A (p.Asn182Lys)
c.408T>A (p.Asn136Lys)
18g.31598663T>CCA503610972TTRc.432T>C (p.Asn144=)
c.336T>C (p.Asn112=)
c.546T>C (p.Asn182=)
c.408T>C (p.Asn136=)
18g.31598663T>GCA402158295TTRc.432T>G (p.Asn144Lys)
c.336T>G (p.Asn112Lys)
c.546T>G (p.Asn182Lys)
c.408T>G (p.Asn136Lys)
18g.31598664C>ACA402158296TTRc.433C>A (p.Pro145Thr)
c.337C>A (p.Pro113Thr)
c.547C>A (p.Pro183Thr)
c.409C>A (p.Pro137Thr)
dbSNP
18g.31598664C=CA2293889379TTRc.433C= (p.Pro145=)
c.337C= (p.Pro113=)
c.547C= (p.Pro183=)
c.409C= (p.Pro137=)
18g.31598664C>GCA402158297TTRc.433C>G (p.Pro145Ala)
c.337C>G (p.Pro113Ala)
c.547C>G (p.Pro183Ala)
c.409C>G (p.Pro137Ala)
18g.31598664C>TCA402158298TTRc.433C>T (p.Pro145Ser)
c.337C>T (p.Pro113Ser)
c.547C>T (p.Pro183Ser)
c.409C>T (p.Pro137Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.31598665C>ACA297742019TTRc.434C>A (p.Pro145His)
c.338C>A (p.Pro113His)
c.548C>A (p.Pro183His)
c.410C>A (p.Pro137His)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched