Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31595189dupCA2697555400TTRc.270dup (p.Val91SerfsTer19)
c.174dup (p.Val59SerfsTer19)
n.296dup
 ClinVar
18g.31595189A=CA2293887830TTRc.270A= (p.Lys90=)
c.174A= (p.Lys58=)
n.296A=
18g.31595189A>CCA256831TTRc.270A>C (p.Lys90Asn)
c.174A>C (p.Lys58Asn)
n.296A>C
 ClinVar dbSNP
18g.31595189A>GCA503610398TTRc.270A>G (p.Lys90=)
c.174A>G (p.Lys58=)
n.296A>G
18g.31595189A>TCA402157025TTRc.270A>T (p.Lys90Asn)
c.174A>T (p.Lys58Asn)
n.296A>T
18g.31595189_31595190delinsAGCA2293887831TTRc.270_271delinsAG (p.Lys90=)
c.174_175delinsAG (p.Lys58=)
n.296_297delinsAG
18g.31595190delCA658824875TTRc.271del (p.Val91TrpfsTer3)
c.175del (p.Val59TrpfsTer3)
n.297del
 ClinVar dbSNP
18g.31595190G>ACA402157028TTRc.271G>A (p.Val91Met)
c.175G>A (p.Val59Met)
n.297G>A
18g.31595190G>CCA402157027TTRc.271G>C (p.Val91Leu)
c.175G>C (p.Val59Leu)
n.297G>C
18g.31595190G>TCA402157026TTRc.271G>T (p.Val91Leu)
c.175G>T (p.Val59Leu)
n.297G>T
18g.31595191T>ACA402157029TTRc.272T>A (p.Val91Glu)
c.176T>A (p.Val59Glu)
n.298T>A
18g.31595191T>CCA256835TTRc.272T>C (p.Val91Ala)
c.176T>C (p.Val59Ala)
n.298T>C
 ClinVar dbSNP
18g.31595191T>GCA402157030TTRc.272T>G (p.Val91Gly)
c.176T>G (p.Val59Gly)
n.298T>G
18g.31595191T=CA2293887832TTRc.272T= (p.Val91=)
c.176T= (p.Val59=)
n.298T=
18g.31595192G>ACA503610399TTRc.273G>A (p.Val91=)
c.177G>A (p.Val59=)
n.299G>A
18g.31595192G>CCA503610400TTRc.273G>C (p.Val91=)
c.177G>C (p.Val59=)
n.299G>C
18g.31595192G>TCA503610401TTRc.273G>T (p.Val91=)
c.177G>T (p.Val59=)
n.299G>T
18g.31595193G>ACA402157031TTRc.274G>A (p.Glu92Lys)
c.178G>A (p.Glu60Lys)
n.300G>A
18g.31595193G>CCA402157033TTRc.274G>C (p.Glu92Gln)
c.178G>C (p.Glu60Gln)
n.300G>C
18g.31595193G>TCA402157032TTRc.274G>T (p.Glu92Ter)
c.178G>T (p.Glu60Ter)
n.300G>T
18g.31595194A>CCA402157034TTRc.275A>C (p.Glu92Ala)
c.179A>C (p.Glu60Ala)
n.301A>C
18g.31595194A>GCA402157036TTRc.275A>G (p.Glu92Gly)
c.179A>G (p.Glu60Gly)
n.301A>G
18g.31595194A>TCA402157035TTRc.275A>T (p.Glu92Val)
c.179A>T (p.Glu60Val)
n.301A>T
18g.31595195A>CCA402157037TTRc.276A>C (p.Glu92Asp)
c.180A>C (p.Glu60Asp)
n.302A>C
18g.31595195A>GCA503610405TTRc.276A>G (p.Glu92=)
c.180A>G (p.Glu60=)
n.302A>G
18g.31595195A>TCA402157038TTRc.276A>T (p.Glu92Asp)
c.180A>T (p.Glu60Asp)
n.302A>T
18g.31595196A=CA2293887833TTRc.277A= (p.Ile93=)
c.181A= (p.Ile61=)
n.303A=
18g.31595196A>CCA402157039TTRc.277A>C (p.Ile93Leu)
c.181A>C (p.Ile61Leu)
n.303A>C
18g.31595196A>GCA402157040TTRc.277A>G (p.Ile93Val)
c.181A>G (p.Ile61Val)
n.303A>G
 ClinVar dbSNP
18g.31595196A>TCA402157041TTRc.277A>T (p.Ile93Leu)
c.181A>T (p.Ile61Leu)
n.303A>T
18g.31595197T>ACA402157042TTRc.278T>A (p.Ile93Lys)
c.182T>A (p.Ile61Lys)
n.304T>A
18g.31595197T>CCA402157043TTRc.278T>C (p.Ile93Thr)
c.182T>C (p.Ile61Thr)
n.304T>C
18g.31595197T>GCA402157044TTRc.278T>G (p.Ile93Arg)
c.182T>G (p.Ile61Arg)
n.304T>G
18g.31595198A=CA2293887834TTRc.279A= (p.Ile93=)
c.183A= (p.Ile61=)
n.305A=
18g.31595198A>CCA503610408TTRc.279A>C (p.Ile93=)
c.183A>C (p.Ile61=)
n.305A>C
 dbSNP
18g.31595198A>GCA402157045TTRc.279A>G (p.Ile93Met)
c.183A>G (p.Ile61Met)
n.305A>G
18g.31595198A>TCA503610409TTRc.279A>T (p.Ile93=)
c.183A>T (p.Ile61=)
n.305A>T
18g.31595199G>ACA402157046TTRc.280G>A (p.Asp94Asn)
c.184G>A (p.Asp62Asn)
n.306G>A
18g.31595199G>CCA297523TTRc.280G>C (p.Asp94His)
c.184G>C (p.Asp62His)
n.306G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595199G=CA2293887835TTRc.280G= (p.Asp94=)
c.184G= (p.Asp62=)
n.306G=
18g.31595199G>TCA402157047TTRc.280G>T (p.Asp94Tyr)
c.184G>T (p.Asp62Tyr)
n.306G>T
18g.31595200A>CCA402157048TTRc.281A>C (p.Asp94Ala)
c.185A>C (p.Asp62Ala)
n.307A>C
 gnomAD v4
18g.31595200A>GCA402157049TTRc.281A>G (p.Asp94Gly)
c.185A>G (p.Asp62Gly)
n.307A>G
18g.31595200A>TCA402157050TTRc.281A>T (p.Asp94Val)
c.185A>T (p.Asp62Val)
n.307A>T
18g.31595201C>ACA402157052TTRc.282C>A (p.Asp94Glu)
c.186C>A (p.Asp62Glu)
n.308C>A
18g.31595201C>GCA402157051TTRc.282C>G (p.Asp94Glu)
c.186C>G (p.Asp62Glu)
n.308C>G
18g.31595201C>TCA503610413TTRc.282C>T (p.Asp94=)
c.186C>T (p.Asp62=)
n.308C>T
18g.31595202A=CA2293887836TTRc.283A= (p.Thr95=)
c.187A= (p.Thr63=)
n.309A=
18g.31595202A>CCA402157053TTRc.283A>C (p.Thr95Pro)
c.187A>C (p.Thr63Pro)
n.309A>C
18g.31595202A>GCA402157054TTRc.283A>G (p.Thr95Ala)
c.187A>G (p.Thr63Ala)
n.309A>G
18g.31595202A>TCA297542TTRc.283A>T (p.Thr95Ser)
c.187A>T (p.Thr63Ser)
n.309A>T
 ClinVar dbSNP
18g.31595203C>ACA402157055TTRc.284C>A (p.Thr95Asn)
c.188C>A (p.Thr63Asn)
n.310C>A
18g.31595203C>GCA402157056TTRc.284C>G (p.Thr95Ser)
c.188C>G (p.Thr63Ser)
n.310C>G
18g.31595203C>TCA402157057TTRc.284C>T (p.Thr95Ile)
c.188C>T (p.Thr63Ile)
n.310C>T
18g.31595204C>ACA503610414TTRc.285C>A (p.Thr95=)
c.189C>A (p.Thr63=)
n.311C>A
18g.31595204C>GCA503610416TTRc.285C>G (p.Thr95=)
c.189C>G (p.Thr63=)
n.311C>G
18g.31595204C>TCA503610415TTRc.285C>T (p.Thr95=)
c.189C>T (p.Thr63=)
n.311C>T
18g.31595205A>CCA402157060TTRc.286A>C (p.Lys96Gln)
c.190A>C (p.Lys64Gln)
n.312A>C
18g.31595205A>GCA402157058TTRc.286A>G (p.Lys96Glu)
c.190A>G (p.Lys64Glu)
n.312A>G
18g.31595205A>TCA402157059TTRc.286A>T (p.Lys96Ter)
c.190A>T (p.Lys64Ter)
n.312A>T
18g.31595206A>CCA402157061TTRc.287A>C (p.Lys96Thr)
c.191A>C (p.Lys64Thr)
n.313A>C
18g.31595206A>GCA402157062TTRc.287A>G (p.Lys96Arg)
c.191A>G (p.Lys64Arg)
n.313A>G
18g.31595206A>TCA402157063TTRc.287A>T (p.Lys96Ile)
c.191A>T (p.Lys64Ile)
n.313A>T
18g.31595207A=CA2293887837TTRc.288A= (p.Lys96=)
c.192A= (p.Lys64=)
n.314A=
18g.31595207A>CCA402157064TTRc.288A>C (p.Lys96Asn)
c.192A>C (p.Lys64Asn)
n.314A>C
18g.31595207A>GCA503610420TTRc.288A>G (p.Lys96=)
c.192A>G (p.Lys64=)
n.314A>G
18g.31595207A>TCA402157065TTRc.288A>T (p.Lys96Asn)
c.192A>T (p.Lys64Asn)
n.314A>T
 dbSNP
18g.31595208T>ACA402157066TTRc.289T>A (p.Ser97Thr)
c.193T>A (p.Ser65Thr)
n.315T>A
18g.31595208T>CCA402157068TTRc.289T>C (p.Ser97Pro)
c.193T>C (p.Ser65Pro)
n.315T>C
 gnomAD v4
18g.31595208T>GCA402157067TTRc.289T>G (p.Ser97Ala)
c.193T>G (p.Ser65Ala)
n.315T>G
18g.31595209C>ACA256800TTRc.290C>A (p.Ser97Tyr)
c.194C>A (p.Ser65Tyr)
n.316C>A
 ClinVar dbSNP gnomAD v4
18g.31595209C=CA2293887838TTRc.290C= (p.Ser97=)
c.194C= (p.Ser65=)
n.316C=
18g.31595209C>GCA402157069TTRc.290C>G (p.Ser97Cys)
c.194C>G (p.Ser65Cys)
n.316C>G
18g.31595209C>TCA402157070TTRc.290C>T (p.Ser97Phe)
c.194C>T (p.Ser65Phe)
n.316C>T
 ClinVar
18g.31595210T>ACA503610422TTRc.291T>A (p.Ser97=)
c.195T>A (p.Ser65=)
n.317T>A
18g.31595210T>CCA503610424TTRc.291T>C (p.Ser97=)
c.195T>C (p.Ser65=)
n.317T>C
18g.31595210T>GCA503610423TTRc.291T>G (p.Ser97=)
c.195T>G (p.Ser65=)
n.317T>G
18g.31595211T>ACA402157071TTRc.292T>A (p.Tyr98Asn)
c.196T>A (p.Tyr66Asn)
n.318T>A
18g.31595211T>CCA402157072TTRc.292T>C (p.Tyr98His)
c.196T>C (p.Tyr66His)
n.318T>C
18g.31595211T>GCA402157073TTRc.292T>G (p.Tyr98Asp)
c.196T>G (p.Tyr66Asp)
n.318T>G
18g.31595212A=CA2293887839TTRc.293A= (p.Tyr98=)
c.197A= (p.Tyr66=)
n.319A=
18g.31595212A>CCA402157075TTRc.293A>C (p.Tyr98Ser)
c.197A>C (p.Tyr66Ser)
n.319A>C
18g.31595212A>GCA402157074TTRc.293A>G (p.Tyr98Cys)
c.197A>G (p.Tyr66Cys)
n.319A>G
18g.31595212A>TCA297739131TTRc.293A>T (p.Tyr98Phe)
c.197A>T (p.Tyr66Phe)
n.319A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31595213C>ACA402157076TTRc.294C>A (p.Tyr98Ter)
c.198C>A (p.Tyr66Ter)
n.320C>A
18g.31595213C>GCA402157077TTRc.294C>G (p.Tyr98Ter)
c.198C>G (p.Tyr66Ter)
n.320C>G
18g.31595213C>TCA503610425TTRc.294C>T (p.Tyr98=)
c.198C>T (p.Tyr66=)
n.320C>T
18g.31595214T>ACA402157078TTRc.295T>A (p.Trp99Arg)
c.199T>A (p.Trp67Arg)
n.321T>A
18g.31595214T>CCA402157079TTRc.295T>C (p.Trp99Arg)
c.199T>C (p.Trp67Arg)
n.321T>C
 gnomAD v4
18g.31595214T>GCA402157080TTRc.295T>G (p.Trp99Gly)
c.199T>G (p.Trp67Gly)
n.321T>G
18g.31595215G>ACA297545TTRc.296G>A (p.Trp99Ter)
c.200G>A (p.Trp67Ter)
n.322G>A
 ClinVar dbSNP gnomAD v4
18g.31595215G>CCA402157082TTRc.296G>C (p.Trp99Ser)
c.200G>C (p.Trp67Ser)
n.322G>C
 ClinVar dbSNP gnomAD v4
18g.31595215G=CA2293887840TTRc.296G= (p.Trp99=)
c.200G= (p.Trp67=)
n.322G=
18g.31595215G>TCA402157081TTRc.296G>T (p.Trp99Leu)
c.200G>T (p.Trp67Leu)
n.322G>T
18g.31595216G>ACA402157083TTRc.297G>A (p.Trp99Ter)
c.201G>A (p.Trp67Ter)
n.323G>A
18g.31595216G>CCA402157084TTRc.297G>C (p.Trp99Cys)
c.201G>C (p.Trp67Cys)
n.323G>C
18g.31595216G>TCA402157085TTRc.297G>T (p.Trp99Cys)
c.201G>T (p.Trp67Cys)
n.323G>T
18g.31595217A=CA2293887841TTRc.298A= (p.Lys100=)
c.202A= (p.Lys68=)
n.324A=
18g.31595217A>CCA402157086TTRc.298A>C (p.Lys100Gln)
c.202A>C (p.Lys68Gln)
n.324A>C
18g.31595217A>GCA297739133TTRc.298A>G (p.Lys100Glu)
c.202A>G (p.Lys68Glu)
n.324A>G
 dbSNP
18g.31595217A>TCA402157087TTRc.298A>T (p.Lys100Ter)
c.202A>T (p.Lys68Ter)
n.324A>T
18g.31595218A>CCA402157088TTRc.299A>C (p.Lys100Thr)
c.203A>C (p.Lys68Thr)
n.325A>C
18g.31595218A>GCA402157089TTRc.299A>G (p.Lys100Arg)
c.203A>G (p.Lys68Arg)
n.325A>G
18g.31595218A>TCA402157090TTRc.299A>T (p.Lys100Met)
c.203A>T (p.Lys68Met)
n.325A>T
18g.31595219G>ACA503610426TTRc.300G>A (p.Lys100=)
c.204G>A (p.Lys68=)
n.326G>A
 ClinVar dbSNP gnomAD v4
18g.31595219G>CCA402157091TTRc.300G>C (p.Lys100Asn)
c.204G>C (p.Lys68Asn)
n.326G>C
18g.31595219G>TCA402157092TTRc.300G>T (p.Lys100Asn)
c.204G>T (p.Lys68Asn)
n.326G>T
18g.31595220G>ACA206402TTRc.301G>A (p.Ala101Thr)
c.205G>A (p.Ala69Thr)
n.327G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595220G>CCA402157093TTRc.301G>C (p.Ala101Pro)
c.205G>C (p.Ala69Pro)
n.327G>C
18g.31595220G=CA2293887842TTRc.301G= (p.Ala101=)
c.205G= (p.Ala69=)
n.327G=
18g.31595220G>TCA297739143TTRc.301G>T (p.Ala101Ser)
c.205G>T (p.Ala69Ser)
n.327G>T
 dbSNP gnomAD v2 gnomAD v4
18g.31595221C>ACA402157094TTRc.302C>A (p.Ala101Glu)
c.206C>A (p.Ala69Glu)
n.328C>A
18g.31595221C=CA2293887843TTRc.302C= (p.Ala101=)
c.206C= (p.Ala69=)
n.328C=
18g.31595221C>GCA402157095TTRc.302C>G (p.Ala101Gly)
c.206C>G (p.Ala69Gly)
n.328C>G
18g.31595221C>TCA402157096TTRc.302C>T (p.Ala101Val)
c.206C>T (p.Ala69Val)
n.328C>T
 ClinVar dbSNP gnomAD v4
18g.31595222A=CA2293887844TTRc.303A= (p.Ala101=)
c.207A= (p.Ala69=)
n.329A=
18g.31595222A>CCA503610427TTRc.303A>C (p.Ala101=)
c.207A>C (p.Ala69=)
n.329A>C
 ClinVar dbSNP
18g.31595222A>GCA503610428TTRc.303A>G (p.Ala101=)
c.207A>G (p.Ala69=)
n.329A>G
 gnomAD v4
18g.31595222A>TCA503610429TTRc.303A>T (p.Ala101=)
c.207A>T (p.Ala69=)
n.329A>T
18g.31595223C>ACA402157097TTRc.304C>A (p.Leu102Ile)
c.208C>A (p.Leu70Ile)
n.330C>A
18g.31595223C=CA2293887845TTRc.304C= (p.Leu102=)
c.208C= (p.Leu70=)
n.330C=
18g.31595223C>GCA402157098TTRc.304C>G (p.Leu102Val)
c.208C>G (p.Leu70Val)
n.330C>G
18g.31595223C>TCA402157099TTRc.304C>T (p.Leu102Phe)
c.208C>T (p.Leu70Phe)
n.330C>T
 ClinVar dbSNP
18g.31595224T>ACA402157102TTRc.305T>A (p.Leu102His)
c.209T>A (p.Leu70His)
n.331T>A
18g.31595224T>CCA402157101TTRc.305T>C (p.Leu102Pro)
c.209T>C (p.Leu70Pro)
n.331T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31595224T>GCA402157100TTRc.305T>G (p.Leu102Arg)
c.209T>G (p.Leu70Arg)
n.331T>G
18g.31595224T=CA2293887846TTRc.305T= (p.Leu102=)
c.209T= (p.Leu70=)
n.331T=
18g.31595225T>ACA503610432TTRc.306T>A (p.Leu102=)
c.210T>A (p.Leu70=)
n.332T>A
18g.31595225T>CCA503610430TTRc.306T>C (p.Leu102=)
c.210T>C (p.Leu70=)
n.332T>C
18g.31595225T>GCA503610431TTRc.306T>G (p.Leu102=)
c.210T>G (p.Leu70=)
n.332T>G
18g.31595226G>ACA402157103TTRc.307G>A (p.Gly103Ser)
c.211G>A (p.Gly71Ser)
n.333G>A
18g.31595226G>CCA402157104TTRc.307G>C (p.Gly103Arg)
c.211G>C (p.Gly71Arg)
n.333G>C
18g.31595226G>TCA402157105TTRc.307G>T (p.Gly103Cys)
c.211G>T (p.Gly71Cys)
n.333G>T
18g.31595227G>ACA402157106TTRc.308G>A (p.Gly103Asp)
c.212G>A (p.Gly71Asp)
n.334G>A
 ClinVar
18g.31595227G>CCA402157107TTRc.308G>C (p.Gly103Ala)
c.212G>C (p.Gly71Ala)
n.334G>C
 COSMIC
18g.31595227G>TCA402157108TTRc.308G>T (p.Gly103Val)
c.212G>T (p.Gly71Val)
n.334G>T
18g.31595228C>ACA503610433TTRc.309C>A (p.Gly103=)
c.213C>A (p.Gly71=)
n.335C>A
18g.31595228C>GCA503610434TTRc.309C>G (p.Gly103=)
c.213C>G (p.Gly71=)
n.335C>G
18g.31595228C>TCA503610435TTRc.309C>T (p.Gly103=)
c.213C>T (p.Gly71=)
n.335C>T
18g.31595229A=CA2293887847TTRc.310A= (p.Ile104=)
c.214A= (p.Ile72=)
n.336A=
18g.31595229A>CCA8928448TTRc.310A>C (p.Ile104Leu)
c.214A>C (p.Ile72Leu)
n.336A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31595229A>GCA297739148TTRc.310A>G (p.Ile104Val)
c.214A>G (p.Ile72Val)
n.336A>G
 dbSNP gnomAD v4
18g.31595229A>TCA402157109TTRc.310A>T (p.Ile104Phe)
c.214A>T (p.Ile72Phe)
n.336A>T
18g.31595230T>ACA402157110TTRc.311T>A (p.Ile104Asn)
c.215T>A (p.Ile72Asn)
n.337T>A
 ClinVar
18g.31595230T>CCA402157111TTRc.311T>C (p.Ile104Thr)
c.215T>C (p.Ile72Thr)
n.337T>C
 ClinVar dbSNP
18g.31595230T>GCA256802TTRc.311T>G (p.Ile104Ser)
c.215T>G (p.Ile72Ser)
n.337T>G
 ClinVar dbSNP
18g.31595230T=CA2293887848TTRc.311T= (p.Ile104=)
c.215T= (p.Ile72=)
n.337T=
18g.31595231C>ACA503610437TTRc.312C>A (p.Ile104=)
c.216C>A (p.Ile72=)
n.338C>A
18g.31595231C=CA2293887849TTRc.312C= (p.Ile104=)
c.216C= (p.Ile72=)
n.338C=
18g.31595231C>GCA402157112TTRc.312C>G (p.Ile104Met)
c.216C>G (p.Ile72Met)
n.338C>G
18g.31595231C>TCA503610436TTRc.312C>T (p.Ile104=)
c.216C>T (p.Ile72=)
n.338C>T
 dbSNP gnomAD v2 COSMIC
18g.31595232T>ACA402157113TTRc.313T>A (p.Ser105Thr)
c.217T>A (p.Ser73Thr)
n.339T>A
18g.31595232T>CCA297739174TTRc.313T>C (p.Ser105Pro)
c.217T>C (p.Ser73Pro)
n.339T>C
18g.31595232T>GCA402157114TTRc.313T>G (p.Ser105Ala)
c.217T>G (p.Ser73Ala)
n.339T>G
 dbSNP
18g.31595232T=CA2293887850TTRc.313T= (p.Ser105=)
c.217T= (p.Ser73=)
n.339T=
18g.31595233C>ACA402157115TTRc.314C>A (p.Ser105Tyr)
c.218C>A (p.Ser73Tyr)
n.340C>A
18g.31595233C=CA2293887851TTRc.314C= (p.Ser105=)
c.218C= (p.Ser73=)
n.340C=
18g.31595233C>GCA402157116TTRc.314C>G (p.Ser105Cys)
c.218C>G (p.Ser73Cys)
n.340C>G
18g.31595233C>TCA402157117TTRc.314C>T (p.Ser105Phe)
c.218C>T (p.Ser73Phe)
n.340C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31595234C>ACA8928449TTRc.315C>A (p.Ser105=)
c.219C>A (p.Ser73=)
n.341C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595234C=CA2293887852TTRc.315C= (p.Ser105=)
c.219C= (p.Ser73=)
n.341C=
18g.31595234C>GCA503610438TTRc.315C>G (p.Ser105=)
c.219C>G (p.Ser73=)
n.341C>G
18g.31595234C>TCA297739186TTRc.315C>T (p.Ser105=)
c.219C>T (p.Ser73=)
n.341C>T
 dbSNP gnomAD v2 gnomAD v4
18g.31595235C>ACA402157118TTRc.316C>A (p.Pro106Thr)
c.220C>A (p.Pro74Thr)
n.342C>A
18g.31595235C>GCA402157120TTRc.316C>G (p.Pro106Ala)
c.220C>G (p.Pro74Ala)
n.342C>G
 ClinVar gnomAD v4
18g.31595235C>TCA402157119TTRc.316C>T (p.Pro106Ser)
c.220C>T (p.Pro74Ser)
n.342C>T
18g.31595236C>ACA402157121TTRc.317C>A (p.Pro106Gln)
c.221C>A (p.Pro74Gln)
n.343C>A
18g.31595236C>GCA402157122TTRc.317C>G (p.Pro106Arg)
c.221C>G (p.Pro74Arg)
n.343C>G
18g.31595236C>TCA402157123TTRc.317C>T (p.Pro106Leu)
c.221C>T (p.Pro74Leu)
n.343C>T
18g.31595237A>CCA503610441TTRc.318A>C (p.Pro106=)
c.222A>C (p.Pro74=)
n.344A>C
18g.31595237A>GCA503610439TTRc.318A>G (p.Pro106=)
c.222A>G (p.Pro74=)
n.344A>G
18g.31595237A>TCA503610440TTRc.318A>T (p.Pro106=)
c.222A>T (p.Pro74=)
n.344A>T
18g.31595238T>ACA402157124TTRc.319T>A (p.Phe107Ile)
c.223T>A (p.Phe75Ile)
n.345T>A
18g.31595238T>CCA402157125TTRc.319T>C (p.Phe107Leu)
c.223T>C (p.Phe75Leu)
n.345T>C
18g.31595238T>GCA402157126TTRc.319T>G (p.Phe107Val)
c.223T>G (p.Phe75Val)
n.345T>G
18g.31595239T>ACA402157129TTRc.320T>A (p.Phe107Tyr)
c.224T>A (p.Phe75Tyr)
n.346T>A
18g.31595239T>CCA402157127TTRc.320T>C (p.Phe107Ser)
c.224T>C (p.Phe75Ser)
n.346T>C
18g.31595239T>GCA402157128TTRc.320T>G (p.Phe107Cys)
c.224T>G (p.Phe75Cys)
n.346T>G
18g.31595240C>ACA402157130TTRc.321C>A (p.Phe107Leu)
c.225C>A (p.Phe75Leu)
n.347C>A
 gnomAD v4
18g.31595240C>GCA402157131TTRc.321C>G (p.Phe107Leu)
c.225C>G (p.Phe75Leu)
n.347C>G
18g.31595240C>TCA503610442TTRc.321C>T (p.Phe107=)
c.225C>T (p.Phe75=)
n.347C>T
18g.31595241C>ACA402157132TTRc.322C>A (p.His108Asn)
c.226C>A (p.His76Asn)
n.348C>A
18g.31595241C>GCA402157133TTRc.322C>G (p.His108Asp)
c.226C>G (p.His76Asp)
n.348C>G
18g.31595241C>TCA402157134TTRc.322C>T (p.His108Tyr)
c.226C>T (p.His76Tyr)
n.348C>T
18g.31595242A=CA2293887853TTRc.323A= (p.His108=)
c.227A= (p.His76=)
n.349A=
18g.31595242A>CCA402157135TTRc.323A>C (p.His108Pro)
c.227A>C (p.His76Pro)
n.349A>C
18g.31595242A>GCA402157137TTRc.323A>G (p.His108Arg)
c.227A>G (p.His76Arg)
n.349A>G
 ClinVar dbSNP
18g.31595242A>TCA402157136TTRc.323A>T (p.His108Leu)
c.227A>T (p.His76Leu)
n.349A>T
18g.31595243T>ACA402157138TTRc.324T>A (p.His108Gln)
c.228T>A (p.His76Gln)
n.350T>A
18g.31595243T>CCA503610444TTRc.324T>C (p.His108=)
c.228T>C (p.His76=)
n.350T>C
18g.31595243T>GCA402157139TTRc.324T>G (p.His108Gln)
c.228T>G (p.His76Gln)
n.350T>G
18g.31595244G>ACA402157140TTRc.325G>A (p.Glu109Lys)
c.229G>A (p.Glu77Lys)
n.351G>A
 ClinVar dbSNP gnomAD v4
18g.31595244G>CCA256829TTRc.325G>C (p.Glu109Gln)
c.229G>C (p.Glu77Gln)
n.351G>C
 ClinVar dbSNP
18g.31595244G=CA2293887854TTRc.325G= (p.Glu109=)
c.229G= (p.Glu77=)
n.351G=
18g.31595244G>TCA402157141TTRc.325G>T (p.Glu109Ter)
c.229G>T (p.Glu77Ter)
n.351G>T
18g.31595245A=CA2293887855TTRc.326A= (p.Glu109=)
c.230A= (p.Glu77=)
n.352A=
18g.31595245A>CCA402157142TTRc.326A>C (p.Glu109Ala)
c.230A>C (p.Glu77Ala)
n.352A>C
18g.31595245A>GCA402157143TTRc.326A>G (p.Glu109Gly)
c.230A>G (p.Glu77Gly)
n.352A>G
 ClinVar
18g.31595245A>TCA402157144TTRc.326A>T (p.Glu109Val)
c.230A>T (p.Glu77Val)
n.352A>T
 ClinVar dbSNP
18g.31595246G>ACA503610445TTRc.327G>A (p.Glu109=)
c.231G>A (p.Glu77=)
n.353G>A
 ClinVar dbSNP
18g.31595246G>CCA402157145TTRc.327G>C (p.Glu109Asp)
c.231G>C (p.Glu77Asp)
n.353G>C
18g.31595246G=CA2293887856TTRc.327G= (p.Glu109=)
c.231G= (p.Glu77=)
n.353G=
18g.31595246G>TCA10581186TTRc.327G>T (p.Glu109Asp)
c.231G>T (p.Glu77Asp)
n.353G>T
 ClinVar dbSNP COSMIC
18g.31595247C>ACA179461TTRc.328C>A (p.His110Asn)
c.232C>A (p.His78Asn)
n.354C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595247C=CA2293887857TTRc.328C= (p.His110=)
c.232C= (p.His78=)
n.354C=
18g.31595247C>GCA402157147TTRc.328C>G (p.His110Asp)
c.232C>G (p.His78Asp)
n.354C>G
 ClinVar dbSNP
18g.31595247C>TCA402157146TTRc.328C>T (p.His110Tyr)
c.232C>T (p.His78Tyr)
n.354C>T
18g.31595248A>CCA402157148TTRc.329A>C (p.His110Pro)
c.233A>C (p.His78Pro)
n.355A>C
18g.31595248A>GCA402157150TTRc.329A>G (p.His110Arg)
c.233A>G (p.His78Arg)
n.355A>G
18g.31595248A>TCA402157149TTRc.329A>T (p.His110Leu)
c.233A>T (p.His78Leu)
n.355A>T
18g.31595249T>ACA402157151TTRc.330T>A (p.His110Gln)
c.234T>A (p.His78Gln)
n.356T>A
 dbSNP
18g.31595249T>CCA503610446TTRc.330T>C (p.His110=)
c.234T>C (p.His78=)
n.356T>C
 dbSNP gnomAD v4
18g.31595249T>GCA402157152TTRc.330T>G (p.His110Gln)
c.234T>G (p.His78Gln)
n.356T>G
18g.31595249T=CA2293887858TTRc.330T= (p.His110=)
c.234T= (p.His78=)
n.356T=
18g.31595250G>ACA402157153TTRc.331G>A (p.Ala111Thr)
c.235G>A (p.Ala79Thr)
n.357G>A
18g.31595250G>CCA402157154TTRc.331G>C (p.Ala111Pro)
c.235G>C (p.Ala79Pro)
n.357G>C
18g.31595250G>TCA402157155TTRc.331G>T (p.Ala111Ser)
c.235G>T (p.Ala79Ser)
n.357G>T
18g.31595251C>ACA402157156TTRc.332C>A (p.Ala111Glu)
c.236C>A (p.Ala79Glu)
n.358C>A
18g.31595251C>GCA402157157TTRc.332C>G (p.Ala111Gly)
c.236C>G (p.Ala79Gly)
n.358C>G
18g.31595251C>TCA402157158TTRc.332C>T (p.Ala111Val)
c.236C>T (p.Ala79Val)
n.358C>T
 gnomAD v4
18g.31595252A=CA2293887859TTRc.333A= (p.Ala111=)
c.237A= (p.Ala79=)
n.359A=
18g.31595252A>CCA503610447TTRc.333A>C (p.Ala111=)
c.237A>C (p.Ala79=)
n.359A>C
18g.31595252A>GCA503610448TTRc.333A>G (p.Ala111=)
c.237A>G (p.Ala79=)
n.359A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31595252A>TCA503610449TTRc.333A>T (p.Ala111=)
c.237A>T (p.Ala79=)
n.359A>T
18g.31595253G>ACA402157159TTRc.334G>A (p.Glu112Lys)
c.238G>A (p.Glu80Lys)
n.360G>A
18g.31595253G>CCA402157160TTRc.334G>C (p.Glu112Gln)
c.238G>C (p.Glu80Gln)
n.360G>C
18g.31595253G>TCA402157161TTRc.334G>T (p.Glu112Ter)
c.238G>T (p.Glu80Ter)
n.360G>T
 COSMIC
18g.31595254A>CCA402157164TTRc.335A>C (p.Glu112Ala)
c.239A>C (p.Glu80Ala)
n.361A>C
18g.31595254A>GCA402157163TTRc.335A>G (p.Glu112Gly)
c.239A>G (p.Glu80Gly)
n.361A>G
 ClinVar
18g.31595254A>TCA402157162TTRc.335A>T (p.Glu112Val)
c.239A>T (p.Glu80Val)
n.361A>T
18g.31595255G>ACA8928450TTRc.336G>A (p.Glu112=)
c.240G>A (p.Glu80=)
n.362G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31595255G>CCA402157165TTRc.336G>C (p.Glu112Asp)
c.240G>C (p.Glu80Asp)
n.362G>C
18g.31595255G=CA2293887860TTRc.336G= (p.Glu112=)
c.240G= (p.Glu80=)
n.362G=
18g.31595255G>TCA402157166TTRc.336G>T (p.Glu112Asp)
c.240G>T (p.Glu80Asp)
n.362G>T
18g.31595256G>ACA402157167TTRc.336+1G>A (n.336+1G>A)
c.240+1G>A (n.240+1G>A)
n.363G>A
c.337G>A (p.Val113Met)
18g.31595256G>CCA402157168TTRc.336+1G>C (n.336+1G>C)
c.240+1G>C (n.240+1G>C)
n.363G>C
c.337G>C (p.Val113Leu)
18g.31595256G>TCA402157169TTRc.336+1G>T (n.336+1G>T)
c.240+1G>T (n.240+1G>T)
n.363G>T
c.337G>T (p.Val113Leu)
18g.31595257T>ACA402157170TTRc.336+2T>A (n.336+2T>A)
c.240+2T>A (n.240+2T>A)
n.364T>A
c.338T>A (p.Val113Glu)
18g.31595257T>CCA402157171TTRc.336+2T>C (n.336+2T>C)
c.240+2T>C (n.240+2T>C)
n.364T>C
c.338T>C (p.Val113Ala)
18g.31595257T>GCA402157172TTRc.336+2T>G (n.336+2T>G)
c.240+2T>G (n.240+2T>G)
n.364T>G
c.338T>G (p.Val113Gly)
18g.31595257_31595258insACCA2641409519TTRc.336+2_336+3insAC (n.336+2_336+3insAC)
c.240+2_240+3insAC (n.240+2_240+3insAC)
n.364_365insAC
c.338_339insAC (p.Ser114ArgfsTer?)
 gnomAD v4
18g.31595258G>ACA2641409517TTRc.336+3G>A (n.336+3G>A)
c.240+3G>A (n.240+3G>A)
n.365G>A
c.339G>A (p.Val113=)
 gnomAD v4
18g.31595258G>CCA2641409518TTRc.336+3G>C (n.336+3G>C)
c.240+3G>C (n.240+3G>C)
n.365G>C
c.339G>C (p.Val113=)
 gnomAD v4
18g.31595259A>CCA402157173TTRc.336+4A>C (n.336+4A>C)
c.240+4A>C (n.240+4A>C)
n.366A>C
c.340A>C (p.Ser114Arg)
18g.31595259A>GCA402157174TTRc.336+4A>G (n.336+4A>G)
c.240+4A>G (n.240+4A>G)
n.366A>G
c.340A>G (p.Ser114Gly)
18g.31595259A>TCA402157175TTRc.336+4A>T (n.336+4A>T)
c.240+4A>T (n.240+4A>T)
n.366A>T
c.340A>T (p.Ser114Cys)
18g.31595260G>ACA402157178TTRc.336+5G>A (n.336+5G>A)
c.240+5G>A (n.240+5G>A)
n.367G>A
c.341G>A (p.Ser114Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31595260G>CCA402157177TTRc.336+5G>C (n.336+5G>C)
c.240+5G>C (n.240+5G>C)
n.367G>C
c.341G>C (p.Ser114Thr)
18g.31595260G=CA2293887861TTRc.336+5G= (n.336+5G=)
c.240+5G= (n.240+5G=)
n.367G=
c.341G= (p.Ser114=)
18g.31595260G>TCA402157176TTRc.336+5G>T (n.336+5G>T)
c.240+5G>T (n.240+5G>T)
n.367G>T
c.341G>T (p.Ser114Ile)
18g.31595261T>ACA402157180TTRc.336+6T>A (n.336+6T>A)
c.240+6T>A (n.240+6T>A)
n.368T>A
c.342T>A (p.Ser114Arg)
18g.31595261T>GCA402157179TTRc.336+6T>G (n.336+6T>G)
c.240+6T>G (n.240+6T>G)
n.368T>G
c.342T>G (p.Ser114Arg)
18g.31595262A=CA2293887862TTRc.336+7A= (n.336+7A=)
c.240+7A= (n.240+7A=)
n.369A=
c.343A= (p.Ile115=)
18g.31595262A>CCA402157181TTRc.336+7A>C (n.336+7A>C)
c.240+7A>C (n.240+7A>C)
n.369A>C
c.343A>C (p.Ile115Leu)
18g.31595262A>GCA402157182TTRc.336+7A>G (n.336+7A>G)
c.240+7A>G (n.240+7A>G)
n.369A>G
c.343A>G (p.Ile115Val)
 dbSNP
18g.31595262A>TCA402157183TTRc.336+7A>T (n.336+7A>T)
c.240+7A>T (n.240+7A>T)
n.369A>T
c.343A>T (p.Ile115Leu)
18g.31595263T>ACA402157184TTRc.336+8T>A (n.336+8T>A)
c.240+8T>A (n.240+8T>A)
n.370T>A
c.344T>A (p.Ile115Lys)
18g.31595263T>CCA402157185TTRc.336+8T>C (n.336+8T>C)
c.240+8T>C (n.240+8T>C)
n.370T>C
c.344T>C (p.Ile115Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31595263T>GCA402157186TTRc.336+8T>G (n.336+8T>G)
c.240+8T>G (n.240+8T>G)
n.370T>G
c.344T>G (p.Ile115Arg)
18g.31595263T=CA2293887863TTRc.336+8T= (n.336+8T=)
c.240+8T= (n.240+8T=)
n.370T=
c.344T= (p.Ile115=)
18g.31595264A>GCA402157187TTRc.336+9A>G (n.336+9A>G)
c.240+9A>G (n.240+9A>G)
n.371A>G
c.345A>G (p.Ile115Met)
18g.31595265C>ACA402157188TTRc.336+10C>A (n.336+10C>A)
c.240+10C>A (n.240+10C>A)
n.372C>A
c.346C>A (p.Gln116Lys)
18g.31595265C>GCA402157189TTRc.336+10C>G (n.336+10C>G)
c.240+10C>G (n.240+10C>G)
n.372C>G
c.346C>G (p.Gln116Glu)
 ClinVar
18g.31595265C>TCA402157190TTRc.336+10C>T (n.336+10C>T)
c.240+10C>T (n.240+10C>T)
n.372C>T
c.346C>T (p.Gln116Ter)
18g.31595266A=CA2293887864TTRc.336+11A= (n.336+11A=)
c.240+11A= (n.240+11A=)
n.373A=
c.347A= (p.Gln116=)
18g.31595266A>CCA402157191TTRc.336+11A>C (n.336+11A>C)
c.240+11A>C (n.240+11A>C)
n.373A>C
c.347A>C (p.Gln116Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.31595266A>GCA402157192TTRc.336+11A>G (n.336+11A>G)
c.240+11A>G (n.240+11A>G)
n.373A>G
c.347A>G (p.Gln116Arg)
18g.31595266A>TCA402157193TTRc.336+11A>T (n.336+11A>T)
c.240+11A>T (n.240+11A>T)
n.373A>T
c.347A>T (p.Gln116Leu)
18g.31595267G>ACA656977707TTRc.336+12G>A (n.336+12G>A)
c.240+12G>A (n.240+12G>A)
n.374G>A
c.348G>A (p.Gln116=)
 COSMIC
18g.31595267G>CCA402157194TTRc.336+12G>C (n.336+12G>C)
c.240+12G>C (n.240+12G>C)
n.374G>C
c.348G>C (p.Gln116His)
18g.31595267G>TCA402157195TTRc.336+12G>T (n.336+12G>T)
c.240+12G>T (n.240+12G>T)
n.374G>T
c.348G>T (p.Gln116His)
18g.31595268A>CCA402157196TTRc.336+13A>C (n.336+13A>C)
c.240+13A>C (n.240+13A>C)
n.375A>C
c.349A>C (p.Thr117Pro)
18g.31595268A>GCA402157197TTRc.336+13A>G (n.336+13A>G)
c.240+13A>G (n.240+13A>G)
n.375A>G
c.349A>G (p.Thr117Ala)
18g.31595268A>TCA402157198TTRc.336+13A>T (n.336+13A>T)
c.240+13A>T (n.240+13A>T)
n.375A>T
c.349A>T (p.Thr117Ser)
18g.31595269C>ACA402157199TTRc.336+14C>A (n.336+14C>A)
c.240+14C>A (n.240+14C>A)
n.376C>A
c.350C>A (p.Thr117Asn)
 gnomAD v4
18g.31595269C=CA2293887865TTRc.336+14C= (n.336+14C=)
c.240+14C= (n.240+14C=)
n.376C=
c.350C= (p.Thr117=)
18g.31595269C>GCA402157200TTRc.336+14C>G (n.336+14C>G)
c.240+14C>G (n.240+14C>G)
n.376C>G
c.350C>G (p.Thr117Ser)
18g.31595269C>TCA8928451TTRc.336+14C>T (n.336+14C>T)
c.240+14C>T (n.240+14C>T)
n.376C>T
c.350C>T (p.Thr117Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595270C=CA2293887866TTRc.336+15C= (n.336+15C=)
c.240+15C= (n.240+15C=)
n.377C=
c.351C= (p.Thr117=)
18g.31595270C>GCA2641409520TTRc.336+15C>G (n.336+15C>G)
c.240+15C>G (n.240+15C>G)
n.377C>G
c.351C>G (p.Thr117=)
 gnomAD v4
18g.31595270C>TCA629154740TTRc.336+15C>T (n.336+15C>T)
c.240+15C>T (n.240+15C>T)
n.377C>T
c.351C>T (p.Thr117=)
 dbSNP gnomAD v2
18g.31595271T>ACA402157201TTRc.336+16T>A (n.336+16T>A)
c.240+16T>A (n.240+16T>A)
n.378T>A
c.352T>A (p.Phe118Ile)
18g.31595271T>CCA402157202TTRc.336+16T>C (n.336+16T>C)
c.240+16T>C (n.240+16T>C)
n.378T>C
c.352T>C (p.Phe118Leu)
18g.31595271T>GCA402157203TTRc.336+16T>G (n.336+16T>G)
c.240+16T>G (n.240+16T>G)
n.378T>G
c.352T>G (p.Phe118Val)
18g.31595272T>ACA402157204TTRc.336+17T>A (n.336+17T>A)
c.240+17T>A (n.240+17T>A)
n.379T>A
c.353T>A (p.Phe118Tyr)
18g.31595272T>CCA402157205TTRc.336+17T>C (n.336+17T>C)
c.240+17T>C (n.240+17T>C)
n.379T>C
c.353T>C (p.Phe118Ser)
18g.31595272T>GCA402157206TTRc.336+17T>G (n.336+17T>G)
c.240+17T>G (n.240+17T>G)
n.379T>G
c.353T>G (p.Phe118Cys)
 gnomAD v4
18g.31595273C>ACA402157207TTRc.336+18C>A (n.336+18C>A)
c.240+18C>A (n.240+18C>A)
n.380C>A
c.354C>A (p.Phe118Leu)
18g.31595273C=CA2293887867TTRc.336+18C= (n.336+18C=)
c.240+18C= (n.240+18C=)
n.380C=
c.354C= (p.Phe118=)
18g.31595273C>GCA402157208TTRc.336+18C>G (n.336+18C>G)
c.240+18C>G (n.240+18C>G)
n.380C>G
c.354C>G (p.Phe118Leu)
18g.31595273C>TCA8928452TTRc.336+18C>T (n.336+18C>T)
c.240+18C>T (n.240+18C>T)
n.380C>T
c.354C>T (p.Phe118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595274G>ACA235185TTRc.336+19G>A (n.336+19G>A)
c.240+19G>A (n.240+19G>A)
n.381G>A
c.355G>A (p.Glu119Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595274G>CCA402157210TTRc.336+19G>C (n.336+19G>C)
c.240+19G>C (n.240+19G>C)
n.381G>C
c.355G>C (p.Glu119Gln)
 dbSNP
18g.31595274G=CA2293887868TTRc.336+19G= (n.336+19G=)
c.240+19G= (n.240+19G=)
n.381G=
c.355G= (p.Glu119=)
18g.31595274G>TCA402157209TTRc.336+19G>T (n.336+19G>T)
c.240+19G>T (n.240+19G>T)
n.381G>T
c.355G>T (p.Glu119Ter)
18g.31595275A>CCA402157211TTRc.336+20A>C (n.336+20A>C)
c.240+20A>C (n.240+20A>C)
n.382A>C
c.356A>C (p.Glu119Ala)
18g.31595275A>GCA402157212TTRc.336+20A>G (n.336+20A>G)
c.240+20A>G (n.240+20A>G)
n.382A>G
c.356A>G (p.Glu119Gly)
18g.31595275A>TCA402157213TTRc.336+20A>T (n.336+20A>T)
c.240+20A>T (n.240+20A>T)
n.382A>T
c.356A>T (p.Glu119Val)
18g.31595276G>ACA629154744TTRc.336+21G>A (n.336+21G>A)
c.240+21G>A (n.240+21G>A)
n.383G>A
c.357G>A (p.Glu119=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31595276G>CCA402157214TTRc.336+21G>C (n.336+21G>C)
c.240+21G>C (n.240+21G>C)
n.383G>C
c.357G>C (p.Glu119Asp)
18g.31595276G=CA2293887869TTRc.336+21G= (n.336+21G=)
c.240+21G= (n.240+21G=)
n.383G=
c.357G= (p.Glu119=)
18g.31595276G>TCA402157215TTRc.336+21G>T (n.336+21G>T)
c.240+21G>T (n.240+21G>T)
n.383G>T
c.357G>T (p.Glu119Asp)
18g.31595277G>ACA402157216TTRc.336+22G>A (n.336+22G>A)
c.240+22G>A (n.240+22G>A)
n.384G>A
c.357+1G>A (n.357+1G>A)
18g.31595277G>CCA402157217TTRc.336+22G>C (n.336+22G>C)
c.240+22G>C (n.240+22G>C)
n.384G>C
c.357+1G>C (n.357+1G>C)
18g.31595277G>TCA402157218TTRc.336+22G>T (n.336+22G>T)
c.240+22G>T (n.240+22G>T)
n.384G>T
c.357+1G>T (n.357+1G>T)
18g.31595278G>ACA402157219TTRc.336+23G>A (n.336+23G>A)
c.240+23G>A (n.240+23G>A)
n.385G>A
c.357+2G>A (n.357+2G>A)
 dbSNP gnomAD v2 gnomAD v4
18g.31595278G>CCA402157220TTRc.336+23G>C (n.336+23G>C)
c.240+23G>C (n.240+23G>C)
n.385G>C
c.357+2G>C (n.357+2G>C)
18g.31595278G=CA2293887870TTRc.336+23G= (n.336+23G=)
c.240+23G= (n.240+23G=)
n.385G=
c.357+2G= (n.357+2G=)
18g.31595278G>TCA402157221TTRc.336+23G>T (n.336+23G>T)
c.240+23G>T (n.240+23G>T)
n.385G>T
c.357+2G>T (n.357+2G>T)
18g.31595279T>CCA2641409521TTRc.336+24T>C (n.336+24T>C)
c.240+24T>C (n.240+24T>C)
n.386T>C
c.357+3T>C (n.357+3T>C)
 gnomAD v4
18g.31595280T>CCA2641409522TTRc.336+25T>C (n.336+25T>C)
c.240+25T>C (n.240+25T>C)
n.387T>C
c.357+4T>C (n.357+4T>C)
 gnomAD v4
18g.31595281G>ACA778416404TTRc.336+26G>A (n.336+26G>A)
c.240+26G>A (n.240+26G>A)
n.388G>A
c.357+5G>A (n.357+5G>A)
 dbSNP gnomAD v4
18g.31595281G>CCA8928453TTRc.336+26G>C (n.336+26G>C)
c.240+26G>C (n.240+26G>C)
n.388G>C
c.357+5G>C (n.357+5G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31595281G=CA2293887871TTRc.336+26G= (n.336+26G=)
c.240+26G= (n.240+26G=)
n.388G=
c.357+5G= (n.357+5G=)
18g.31595282T>CCA8928454TTRc.336+27T>C (n.336+27T>C)
c.240+27T>C (n.240+27T>C)
n.389T>C
c.357+6T>C (n.357+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31595282T=CA2293887872TTRc.336+27T= (n.336+27T=)
c.240+27T= (n.240+27T=)
n.389T=
c.357+6T= (n.357+6T=)
18g.31595282_31595283insGCA2812000312TTRc.336+27_336+28insG (n.336+27_336+28insG)
c.240+27_240+28insG (n.240+27_240+28insG)
n.389_390insG
c.357+6_357+7insG (n.357+6_357+7insG)
18g.31595285T>CCA778416412TTRc.336+30T>C (n.336+30T>C)
c.240+30T>C (n.240+30T>C)
n.392T>C
c.357+9T>C (n.357+9T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.31595285T>GCA2812000314TTRc.336+30T>G (n.336+30T>G)
c.240+30T>G (n.240+30T>G)
n.392T>G
c.357+9T>G (n.357+9T>G)
18g.31595285T=CA2293887873TTRc.336+30T= (n.336+30T=)
c.240+30T= (n.240+30T=)
n.392T=
c.357+9T= (n.357+9T=)
18g.31595286G=CA2293887874TTRc.336+31G= (n.336+31G=)
c.240+31G= (n.240+31G=)
n.393G=
c.357+10G= (n.357+10G=)
18g.31595286G>TCA629154746TTRc.336+31G>T (n.336+31G>T)
c.240+31G>T (n.240+31G>T)
n.393G>T
c.357+10G>T (n.357+10G>T)
 dbSNP gnomAD v2 gnomAD v4
18g.31595287G>CCA2293887876TTRc.336+32G>C (n.336+32G>C)
c.240+32G>C (n.240+32G>C)
n.394G>C
c.357+11G>C (n.357+11G>C)
 dbSNP
18g.31595287G=CA2293887875TTRc.336+32G= (n.336+32G=)
c.240+32G= (n.240+32G=)
n.394G=
c.357+11G= (n.357+11G=)
18g.31595288T>GCA2641409523TTRc.336+33T>G (n.336+33T>G)
c.240+33T>G (n.240+33T>G)
n.395T>G
c.357+12T>G (n.357+12T>G)
 gnomAD v4
18g.31595288_31595289insGTGCA2812000315TTRc.336+33_336+34insGTG (n.336+33_336+34insGTG)
c.240+33_240+34insGTG (n.240+33_240+34insGTG)
n.395_396insGTG
c.357+12_357+13insGTG (n.357+12_357+13insGTG)

Number of alleles fetched