Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31598613G>ACA402158200TTRc.382G>A (p.Ala128Thr)
c.286G>A (p.Ala96Thr)
c.496G>A (p.Ala166Thr)
c.375+7G>A (n.375+7G>A)
 ClinVar dbSNP
18g.31598613G>CCA402158202TTRc.382G>C (p.Ala128Pro)
c.286G>C (p.Ala96Pro)
c.496G>C (p.Ala166Pro)
c.375+7G>C (n.375+7G>C)
18g.31598613G=CA2293889351TTRc.382G= (p.Ala128=)
c.286G= (p.Ala96=)
c.496G= (p.Ala166=)
c.375+7G= (n.375+7G=)
18g.31598613G>TCA402158201TTRc.382G>T (p.Ala128Ser)
c.286G>T (p.Ala96Ser)
c.496G>T (p.Ala166Ser)
c.375+7G>T (n.375+7G>T)
18g.31598614C>ACA402158203TTRc.383C>A (p.Ala128Asp)
c.287C>A (p.Ala96Asp)
c.497C>A (p.Ala166Asp)
c.375+8C>A (n.375+8C>A)
18g.31598614C=CA2293889352TTRc.383C= (p.Ala128=)
c.287C= (p.Ala96=)
c.497C= (p.Ala166=)
c.375+8C= (n.375+8C=)
18g.31598614C>GCA402158204TTRc.383C>G (p.Ala128Gly)
c.287C>G (p.Ala96Gly)
c.497C>G (p.Ala166Gly)
c.375+8C>G (n.375+8C>G)
18g.31598614C>TCA402158205TTRc.383C>T (p.Ala128Val)
c.287C>T (p.Ala96Val)
c.497C>T (p.Ala166Val)
c.375+8C>T (n.375+8C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598615C>ACA503610896TTRc.384C>A (p.Ala128=)
c.288C>A (p.Ala96=)
c.498C>A (p.Ala166=)
c.375+9C>A (n.375+9C>A)
18g.31598615C=CA2293889353TTRc.384C= (p.Ala128=)
c.288C= (p.Ala96=)
c.498C= (p.Ala166=)
c.375+9C= (n.375+9C=)
18g.31598615C>GCA503610897TTRc.384C>G (p.Ala128=)
c.288C>G (p.Ala96=)
c.498C>G (p.Ala166=)
c.375+9C>G (n.375+9C>G)
18g.31598615C>TCA245099TTRc.384C>T (p.Ala128=)
c.288C>T (p.Ala96=)
c.498C>T (p.Ala166=)
c.375+9C>T (n.375+9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598616G>ACA132600TTRc.385G>A (p.Ala129Thr)
c.289G>A (p.Ala97Thr)
c.499G>A (p.Ala167Thr)
c.375+10G>A (n.375+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31598616G>CCA402158206TTRc.385G>C (p.Ala129Pro)
c.289G>C (p.Ala97Pro)
c.499G>C (p.Ala167Pro)
c.375+10G>C (n.375+10G>C)
18g.31598616G=CA2293889354TTRc.385G= (p.Ala129=)
c.289G= (p.Ala97=)
c.499G= (p.Ala167=)
c.375+10G= (n.375+10G=)
18g.31598616G>TCA402158207TTRc.385G>T (p.Ala129Ser)
c.289G>T (p.Ala97Ser)
c.499G>T (p.Ala167Ser)
c.375+10G>T (n.375+10G>T)
 ClinVar dbSNP
18g.31598617C>ACA402158208TTRc.386C>A (p.Ala129Asp)
c.290C>A (p.Ala97Asp)
c.500C>A (p.Ala167Asp)
c.375+11C>A (n.375+11C>A)
18g.31598617C=CA2293889355TTRc.386C= (p.Ala129=)
c.290C= (p.Ala97=)
c.500C= (p.Ala167=)
c.375+11C= (n.375+11C=)
18g.31598617C>GCA402158209TTRc.386C>G (p.Ala129Gly)
c.290C>G (p.Ala97Gly)
c.500C>G (p.Ala167Gly)
c.375+11C>G (n.375+11C>G)
18g.31598617C>TCA123109TTRc.386C>T (p.Ala129Val)
c.290C>T (p.Ala97Val)
c.500C>T (p.Ala167Val)
c.375+11C>T (n.375+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598618C>ACA8928508TTRc.387C>A (p.Ala129=)
c.291C>A (p.Ala97=)
c.501C>A (p.Ala167=)
c.376-13C>A (n.376-13C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598618C=CA2293889356TTRc.387C= (p.Ala129=)
c.291C= (p.Ala97=)
c.501C= (p.Ala167=)
c.376-13C= (n.376-13C=)
18g.31598618C>GCA503610902TTRc.387C>G (p.Ala129=)
c.291C>G (p.Ala97=)
c.501C>G (p.Ala167=)
c.376-13C>G (n.376-13C>G)
 gnomAD v4
18g.31598618C>TCA503610901TTRc.387C>T (p.Ala129=)
c.291C>T (p.Ala97=)
c.501C>T (p.Ala167=)
c.376-13C>T (n.376-13C>T)
18g.31598619C>ACA402158210TTRc.388C>A (p.Leu130Met)
c.292C>A (p.Leu98Met)
c.502C>A (p.Leu168Met)
c.376-12C>A (n.376-12C>A)
18g.31598619C>GCA402158211TTRc.388C>G (p.Leu130Val)
c.292C>G (p.Leu98Val)
c.502C>G (p.Leu168Val)
c.376-12C>G (n.376-12C>G)
18g.31598619C>TCA503610903TTRc.388C>T (p.Leu130=)
c.292C>T (p.Leu98=)
c.502C>T (p.Leu168=)
c.376-12C>T (n.376-12C>T)
18g.31598620T>ACA402158212TTRc.389T>A (p.Leu130Gln)
c.293T>A (p.Leu98Gln)
c.503T>A (p.Leu168Gln)
c.376-11T>A (n.376-11T>A)
18g.31598620T>CCA402158214TTRc.389T>C (p.Leu130Pro)
c.293T>C (p.Leu98Pro)
c.503T>C (p.Leu168Pro)
c.376-11T>C (n.376-11T>C)
18g.31598620T>GCA402158213TTRc.389T>G (p.Leu130Arg)
c.293T>G (p.Leu98Arg)
c.503T>G (p.Leu168Arg)
c.376-11T>G (n.376-11T>G)
18g.31598621G>ACA503610904TTRc.390G>A (p.Leu130=)
c.294G>A (p.Leu98=)
c.504G>A (p.Leu168=)
c.376-10G>A (n.376-10G>A)
 ClinVar gnomAD v4
18g.31598621G>CCA503610905TTRc.390G>C (p.Leu130=)
c.294G>C (p.Leu98=)
c.504G>C (p.Leu168=)
c.376-10G>C (n.376-10G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31598621G=CA2293889357TTRc.390G= (p.Leu130=)
c.294G= (p.Leu98=)
c.504G= (p.Leu168=)
c.376-10G= (n.376-10G=)
18g.31598621G>TCA503610906TTRc.390G>T (p.Leu130=)
c.294G>T (p.Leu98=)
c.504G>T (p.Leu168=)
c.376-10G>T (n.376-10G>T)
 gnomAD v4
18g.31598622C>ACA256804TTRc.391C>A (p.Leu131Met)
c.295C>A (p.Leu99Met)
c.505C>A (p.Leu169Met)
c.376-9C>A (n.376-9C>A)
 ClinVar dbSNP
18g.31598622C=CA2293889358TTRc.391C= (p.Leu131=)
c.295C= (p.Leu99=)
c.505C= (p.Leu169=)
c.376-9C= (n.376-9C=)
18g.31598622C>GCA402158215TTRc.391C>G (p.Leu131Val)
c.295C>G (p.Leu99Val)
c.505C>G (p.Leu169Val)
c.376-9C>G (n.376-9C>G)
18g.31598622C>TCA503610908TTRc.391C>T (p.Leu131=)
c.295C>T (p.Leu99=)
c.505C>T (p.Leu169=)
c.376-9C>T (n.376-9C>T)
 ClinVar dbSNP
18g.31598623T>ACA402158216TTRc.392T>A (p.Leu131Gln)
c.296T>A (p.Leu99Gln)
c.506T>A (p.Leu169Gln)
c.376-8T>A (n.376-8T>A)
18g.31598623T>CCA402158217TTRc.392T>C (p.Leu131Pro)
c.296T>C (p.Leu99Pro)
c.506T>C (p.Leu169Pro)
c.376-8T>C (n.376-8T>C)
18g.31598623T>GCA402158218TTRc.392T>G (p.Leu131Arg)
c.296T>G (p.Leu99Arg)
c.506T>G (p.Leu169Arg)
c.376-8T>G (n.376-8T>G)
18g.31598624G>ACA503610910TTRc.393G>A (p.Leu131=)
c.297G>A (p.Leu99=)
c.507G>A (p.Leu169=)
c.376-7G>A (n.376-7G>A)
18g.31598624G>CCA503610911TTRc.393G>C (p.Leu131=)
c.297G>C (p.Leu99=)
c.507G>C (p.Leu169=)
c.376-7G>C (n.376-7G>C)
18g.31598624G>TCA503610912TTRc.393G>T (p.Leu131=)
c.297G>T (p.Leu99=)
c.507G>T (p.Leu169=)
c.376-7G>T (n.376-7G>T)
18g.31598625A>CCA402158219TTRc.394A>C (p.Ser132Arg)
c.298A>C (p.Ser100Arg)
c.508A>C (p.Ser170Arg)
c.376-6A>C (n.376-6A>C)
18g.31598625A>GCA402158220TTRc.394A>G (p.Ser132Gly)
c.298A>G (p.Ser100Gly)
c.508A>G (p.Ser170Gly)
c.376-6A>G (n.376-6A>G)
18g.31598625A>TCA402158221TTRc.394A>T (p.Ser132Cys)
c.298A>T (p.Ser100Cys)
c.508A>T (p.Ser170Cys)
c.376-6A>T (n.376-6A>T)
18g.31598626G>ACA402158222TTRc.395G>A (p.Ser132Asn)
c.299G>A (p.Ser100Asn)
c.509G>A (p.Ser170Asn)
c.376-5G>A (n.376-5G>A)
18g.31598626G>CCA402158223TTRc.395G>C (p.Ser132Thr)
c.299G>C (p.Ser100Thr)
c.509G>C (p.Ser170Thr)
c.376-5G>C (n.376-5G>C)
18g.31598626G>TCA402158224TTRc.395G>T (p.Ser132Ile)
c.299G>T (p.Ser100Ile)
c.509G>T (p.Ser170Ile)
c.376-5G>T (n.376-5G>T)
 gnomAD v4
18g.31598627C>ACA402158226TTRc.396C>A (p.Ser132Arg)
c.300C>A (p.Ser100Arg)
c.510C>A (p.Ser170Arg)
c.376-4C>A (n.376-4C>A)
 gnomAD v4
18g.31598627C>GCA402158225TTRc.396C>G (p.Ser132Arg)
c.300C>G (p.Ser100Arg)
c.510C>G (p.Ser170Arg)
c.376-4C>G (n.376-4C>G)
18g.31598627C>TCA503610917TTRc.396C>T (p.Ser132=)
c.300C>T (p.Ser100=)
c.510C>T (p.Ser170=)
c.376-4C>T (n.376-4C>T)
 ClinVar dbSNP gnomAD v4
18g.31598628C>ACA402158227TTRc.397C>A (p.Pro133Thr)
c.301C>A (p.Pro101Thr)
c.511C>A (p.Pro171Thr)
c.376-3C>A (n.376-3C>A)
18g.31598628C=CA2293889359TTRc.397C= (p.Pro133=)
c.301C= (p.Pro101=)
c.511C= (p.Pro171=)
c.376-3C= (n.376-3C=)
18g.31598628C>GCA402158228TTRc.397C>G (p.Pro133Ala)
c.301C>G (p.Pro101Ala)
c.511C>G (p.Pro171Ala)
c.376-3C>G (n.376-3C>G)
18g.31598628C>TCA297532TTRc.397C>T (p.Pro133Ser)
c.301C>T (p.Pro101Ser)
c.511C>T (p.Pro171Ser)
c.376-3C>T (n.376-3C>T)
 ClinVar dbSNP gnomAD v4
18g.31598629C>ACA402158229TTRc.398C>A (p.Pro133His)
c.302C>A (p.Pro101His)
c.512C>A (p.Pro171His)
c.376-2C>A (n.376-2C>A)
18g.31598629C=CA2293889360TTRc.398C= (p.Pro133=)
c.302C= (p.Pro101=)
c.512C= (p.Pro171=)
c.376-2C= (n.376-2C=)
18g.31598629C>GCA402158230TTRc.398C>G (p.Pro133Arg)
c.302C>G (p.Pro101Arg)
c.512C>G (p.Pro171Arg)
c.376-2C>G (n.376-2C>G)
18g.31598629C>TCA297741934TTRc.398C>T (p.Pro133Leu)
c.302C>T (p.Pro101Leu)
c.512C>T (p.Pro171Leu)
c.376-2C>T (n.376-2C>T)
 dbSNP
18g.31598630C>ACA402158231TTRc.399C>A (p.Pro133=)
c.303C>A (p.Pro101=)
c.513C>A (p.Pro171=)
c.376-1C>A (n.376-1C>A)
18g.31598630C>GCA402158232TTRc.399C>G (p.Pro133=)
c.303C>G (p.Pro101=)
c.513C>G (p.Pro171=)
c.376-1C>G (n.376-1C>G)
18g.31598630C>TCA402158233TTRc.399C>T (p.Pro133=)
c.303C>T (p.Pro101=)
c.513C>T (p.Pro171=)
c.376-1C>T (n.376-1C>T)
 gnomAD v4
18g.31598631T>ACA402158234TTRc.400T>A (p.Tyr134Asn)
c.304T>A (p.Tyr102Asn)
c.514T>A (p.Tyr172Asn)
c.376T>A (p.Tyr126Asn)
18g.31598631T>CCA123104TTRc.400T>C (p.Tyr134His)
c.304T>C (p.Tyr102His)
c.514T>C (p.Tyr172His)
c.376T>C (p.Tyr126His)
 ClinVar dbSNP
18g.31598631T>GCA402158235TTRc.400T>G (p.Tyr134Asp)
c.304T>G (p.Tyr102Asp)
c.514T>G (p.Tyr172Asp)
c.376T>G (p.Tyr126Asp)
18g.31598631T=CA2293889361TTRc.400T= (p.Tyr134=)
c.304T= (p.Tyr102=)
c.514T= (p.Tyr172=)
c.376T= (p.Tyr126=)
18g.31598632A=CA2293889362TTRc.401A= (p.Tyr134=)
c.305A= (p.Tyr102=)
c.515A= (p.Tyr172=)
c.377A= (p.Tyr126=)
18g.31598632A>CCA402158236TTRc.401A>C (p.Tyr134Ser)
c.305A>C (p.Tyr102Ser)
c.515A>C (p.Tyr172Ser)
c.377A>C (p.Tyr126Ser)
18g.31598632A>GCA256794TTRc.401A>G (p.Tyr134Cys)
c.305A>G (p.Tyr102Cys)
c.515A>G (p.Tyr172Cys)
c.377A>G (p.Tyr126Cys)
 ClinVar dbSNP
18g.31598632A>TCA402158237TTRc.401A>T (p.Tyr134Phe)
c.305A>T (p.Tyr102Phe)
c.515A>T (p.Tyr172Phe)
c.377A>T (p.Tyr126Phe)
18g.31598633C>ACA402158239TTRc.402C>A (p.Tyr134Ter)
c.306C>A (p.Tyr102Ter)
c.516C>A (p.Tyr172Ter)
c.378C>A (p.Tyr126Ter)
18g.31598633C>GCA402158238TTRc.402C>G (p.Tyr134Ter)
c.306C>G (p.Tyr102Ter)
c.516C>G (p.Tyr172Ter)
c.378C>G (p.Tyr126Ter)
18g.31598633C>TCA503610924TTRc.402C>T (p.Tyr134=)
c.306C>T (p.Tyr102=)
c.516C>T (p.Tyr172=)
c.378C>T (p.Tyr126=)
 gnomAD v4
18g.31598634T>ACA402158240TTRc.403T>A (p.Ser135Thr)
c.307T>A (p.Ser103Thr)
c.517T>A (p.Ser173Thr)
c.379T>A (p.Ser127Thr)
18g.31598634T>CCA402158241TTRc.403T>C (p.Ser135Pro)
c.307T>C (p.Ser103Pro)
c.517T>C (p.Ser173Pro)
c.379T>C (p.Ser127Pro)
18g.31598634T>GCA402158242TTRc.403T>G (p.Ser135Ala)
c.307T>G (p.Ser103Ala)
c.517T>G (p.Ser173Ala)
c.379T>G (p.Ser127Ala)
18g.31598635C>ACA402158243TTRc.404C>A (p.Ser135Tyr)
c.308C>A (p.Ser103Tyr)
c.518C>A (p.Ser173Tyr)
c.380C>A (p.Ser127Tyr)
18g.31598635C>GCA402158244TTRc.404C>G (p.Ser135Cys)
c.308C>G (p.Ser103Cys)
c.518C>G (p.Ser173Cys)
c.380C>G (p.Ser127Cys)
18g.31598635C>TCA402158245TTRc.404C>T (p.Ser135Phe)
c.308C>T (p.Ser103Phe)
c.518C>T (p.Ser173Phe)
c.380C>T (p.Ser127Phe)
 COSMIC
18g.31598636C>ACA503610930TTRc.405C>A (p.Ser135=)
c.309C>A (p.Ser103=)
c.519C>A (p.Ser173=)
c.381C>A (p.Ser127=)
18g.31598636C=CA2293889363TTRc.405C= (p.Ser135=)
c.309C= (p.Ser103=)
c.519C= (p.Ser173=)
c.381C= (p.Ser127=)
18g.31598636C>GCA8928509TTRc.405C>G (p.Ser135=)
c.309C>G (p.Ser103=)
c.519C>G (p.Ser173=)
c.381C>G (p.Ser127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598636C>TCA503610931TTRc.405C>T (p.Ser135=)
c.309C>T (p.Ser103=)
c.519C>T (p.Ser173=)
c.381C>T (p.Ser127=)
 dbSNP gnomAD v4 COSMIC
18g.31598637T>ACA402158246TTRc.406T>A (p.Tyr136Asn)
c.310T>A (p.Tyr104Asn)
c.520T>A (p.Tyr174Asn)
c.382T>A (p.Tyr128Asn)
18g.31598637T>CCA8928510TTRc.406T>C (p.Tyr136His)
c.310T>C (p.Tyr104His)
c.520T>C (p.Tyr174His)
c.382T>C (p.Tyr128His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31598637T>GCA402158247TTRc.406T>G (p.Tyr136Asp)
c.310T>G (p.Tyr104Asp)
c.520T>G (p.Tyr174Asp)
c.382T>G (p.Tyr128Asp)
18g.31598637T=CA2293889364TTRc.406T= (p.Tyr136=)
c.310T= (p.Tyr104=)
c.520T= (p.Tyr174=)
c.382T= (p.Tyr128=)
18g.31598638A=CA2293889365TTRc.407A= (p.Tyr136=)
c.311A= (p.Tyr104=)
c.521A= (p.Tyr174=)
c.383A= (p.Tyr128=)
18g.31598638A>CCA297535TTRc.407A>C (p.Tyr136Ser)
c.311A>C (p.Tyr104Ser)
c.521A>C (p.Tyr174Ser)
c.383A>C (p.Tyr128Ser)
 ClinVar dbSNP gnomAD v4
18g.31598638A>GCA402158248TTRc.407A>G (p.Tyr136Cys)
c.311A>G (p.Tyr104Cys)
c.521A>G (p.Tyr174Cys)
c.383A>G (p.Tyr128Cys)
 COSMIC
18g.31598638A>TCA402158249TTRc.407A>T (p.Tyr136Phe)
c.311A>T (p.Tyr104Phe)
c.521A>T (p.Tyr174Phe)
c.383A>T (p.Tyr128Phe)
18g.31598639T>ACA402158251TTRc.408T>A (p.Tyr136Ter)
c.312T>A (p.Tyr104Ter)
c.522T>A (p.Tyr174Ter)
c.384T>A (p.Tyr128Ter)
18g.31598639T>CCA503610933TTRc.408T>C (p.Tyr136=)
c.312T>C (p.Tyr104=)
c.522T>C (p.Tyr174=)
c.384T>C (p.Tyr128=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31598639T>GCA402158250TTRc.408T>G (p.Tyr136Ter)
c.312T>G (p.Tyr104Ter)
c.522T>G (p.Tyr174Ter)
c.384T>G (p.Tyr128Ter)
 ClinVar
18g.31598639T=CA2293889366TTRc.408T= (p.Tyr136=)
c.312T= (p.Tyr104=)
c.522T= (p.Tyr174=)
c.384T= (p.Tyr128=)
18g.31598640T>ACA8928511TTRc.409T>A (p.Ser137Thr)
c.313T>A (p.Ser105Thr)
c.523T>A (p.Ser175Thr)
c.385T>A (p.Ser129Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598640T>CCA402158252TTRc.409T>C (p.Ser137Pro)
c.313T>C (p.Ser105Pro)
c.523T>C (p.Ser175Pro)
c.385T>C (p.Ser129Pro)
18g.31598640T>GCA402158253TTRc.409T>G (p.Ser137Ala)
c.313T>G (p.Ser105Ala)
c.523T>G (p.Ser175Ala)
c.385T>G (p.Ser129Ala)
18g.31598640T=CA2293889367TTRc.409T= (p.Ser137=)
c.313T= (p.Ser105=)
c.523T= (p.Ser175=)
c.385T= (p.Ser129=)
18g.31598641C>ACA402158254TTRc.410C>A (p.Ser137Tyr)
c.314C>A (p.Ser105Tyr)
c.524C>A (p.Ser175Tyr)
c.386C>A (p.Ser129Tyr)
18g.31598641C>GCA402158255TTRc.410C>G (p.Ser137Cys)
c.314C>G (p.Ser105Cys)
c.524C>G (p.Ser175Cys)
c.386C>G (p.Ser129Cys)
18g.31598641C>TCA402158256TTRc.410C>T (p.Ser137Phe)
c.314C>T (p.Ser105Phe)
c.524C>T (p.Ser175Phe)
c.386C>T (p.Ser129Phe)
18g.31598642C>ACA503610935TTRc.411C>A (p.Ser137=)
c.315C>A (p.Ser105=)
c.525C>A (p.Ser175=)
c.387C>A (p.Ser129=)
18g.31598642C=CA2293889368TTRc.411C= (p.Ser137=)
c.315C= (p.Ser105=)
c.525C= (p.Ser175=)
c.387C= (p.Ser129=)
18g.31598642C>GCA503610936TTRc.411C>G (p.Ser137=)
c.315C>G (p.Ser105=)
c.525C>G (p.Ser175=)
c.387C>G (p.Ser129=)
18g.31598642C>TCA8928512TTRc.411C>T (p.Ser137=)
c.315C>T (p.Ser105=)
c.525C>T (p.Ser175=)
c.387C>T (p.Ser129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598643A>CCA402158257TTRc.412A>C (p.Thr138Pro)
c.316A>C (p.Thr106Pro)
c.526A>C (p.Thr176Pro)
c.388A>C (p.Thr130Pro)
18g.31598643A>GCA402158258TTRc.412A>G (p.Thr138Ala)
c.316A>G (p.Thr106Ala)
c.526A>G (p.Thr176Ala)
c.388A>G (p.Thr130Ala)
18g.31598643A>TCA402158259TTRc.412A>T (p.Thr138Ser)
c.316A>T (p.Thr106Ser)
c.526A>T (p.Thr176Ser)
c.388A>T (p.Thr130Ser)
18g.31598644C>ACA297741988TTRc.413C>A (p.Thr138Asn)
c.317C>A (p.Thr106Asn)
c.527C>A (p.Thr176Asn)
c.389C>A (p.Thr130Asn)
 dbSNP
18g.31598644C=CA2293889369TTRc.413C= (p.Thr138=)
c.317C= (p.Thr106=)
c.527C= (p.Thr176=)
c.389C= (p.Thr130=)
18g.31598644C>GCA402158260TTRc.413C>G (p.Thr138Ser)
c.317C>G (p.Thr106Ser)
c.527C>G (p.Thr176Ser)
c.389C>G (p.Thr130Ser)
18g.31598644C>TCA402158261TTRc.413C>T (p.Thr138Ile)
c.317C>T (p.Thr106Ile)
c.527C>T (p.Thr176Ile)
c.389C>T (p.Thr130Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.31598645C>ACA503610942TTRc.414C>A (p.Thr138=)
c.318C>A (p.Thr106=)
c.528C>A (p.Thr176=)
c.390C>A (p.Thr130=)
18g.31598645C>GCA503610943TTRc.414C>G (p.Thr138=)
c.318C>G (p.Thr106=)
c.528C>G (p.Thr176=)
c.390C>G (p.Thr130=)
18g.31598645C>TCA503610944TTRc.414C>T (p.Thr138=)
c.318C>T (p.Thr106=)
c.528C>T (p.Thr176=)
c.390C>T (p.Thr130=)
18g.31598646A>CCA402158264TTRc.415A>C (p.Thr139Pro)
c.319A>C (p.Thr107Pro)
c.529A>C (p.Thr177Pro)
c.391A>C (p.Thr131Pro)
18g.31598646A>GCA402158263TTRc.415A>G (p.Thr139Ala)
c.319A>G (p.Thr107Ala)
c.529A>G (p.Thr177Ala)
c.391A>G (p.Thr131Ala)
18g.31598646A>TCA402158262TTRc.415A>T (p.Thr139Ser)
c.319A>T (p.Thr107Ser)
c.529A>T (p.Thr177Ser)
c.391A>T (p.Thr131Ser)
18g.31598647C>ACA402158265TTRc.416C>A (p.Thr139Lys)
c.320C>A (p.Thr107Lys)
c.530C>A (p.Thr177Lys)
c.392C>A (p.Thr131Lys)
18g.31598647C=CA2293889370TTRc.416C= (p.Thr139=)
c.320C= (p.Thr107=)
c.530C= (p.Thr177=)
c.392C= (p.Thr131=)
18g.31598647C>GCA402158266TTRc.416C>G (p.Thr139Arg)
c.320C>G (p.Thr107Arg)
c.530C>G (p.Thr177Arg)
c.392C>G (p.Thr131Arg)
18g.31598647C>TCA123101TTRc.416C>T (p.Thr139Met)
c.320C>T (p.Thr107Met)
c.530C>T (p.Thr177Met)
c.392C>T (p.Thr131Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598648G>ACA132602TTRc.417G>A (p.Thr139=)
c.321G>A (p.Thr107=)
c.531G>A (p.Thr177=)
c.393G>A (p.Thr131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31598648G>CCA503610949TTRc.417G>C (p.Thr139=)
c.321G>C (p.Thr107=)
c.531G>C (p.Thr177=)
c.393G>C (p.Thr131=)
18g.31598648G=CA2293889371TTRc.417G= (p.Thr139=)
c.321G= (p.Thr107=)
c.531G= (p.Thr177=)
c.393G= (p.Thr131=)
18g.31598648G>TCA503610947TTRc.417G>T (p.Thr139=)
c.321G>T (p.Thr107=)
c.531G>T (p.Thr177=)
c.393G>T (p.Thr131=)
 gnomAD v4
18g.31598648_31598652delinsCAACA2499307109TTRc.417_421delinsCAA (p.Ala140AsnfsTer?)
c.321_325delinsCAA (p.Ala108AsnfsTer?)
c.531_535delinsCAA (p.Ala178AsnfsTer?)
c.393_397delinsCAA (p.Ala132AsnfsTer?)
18g.31598649G>ACA402158267TTRc.418G>A (p.Ala140Thr)
c.322G>A (p.Ala108Thr)
c.532G>A (p.Ala178Thr)
c.394G>A (p.Ala132Thr)
18g.31598649G>CCA402158268TTRc.418G>C (p.Ala140Pro)
c.322G>C (p.Ala108Pro)
c.532G>C (p.Ala178Pro)
c.394G>C (p.Ala132Pro)
18g.31598649G=CA2293889372TTRc.418G= (p.Ala140=)
c.322G= (p.Ala108=)
c.532G= (p.Ala178=)
c.394G= (p.Ala132=)
18g.31598649G>TCA10577055TTRc.418G>T (p.Ala140Ser)
c.322G>T (p.Ala108Ser)
c.532G>T (p.Ala178Ser)
c.394G>T (p.Ala132Ser)
 ClinVar dbSNP gnomAD v4
18g.31598650C>ACA402158269TTRc.419C>A (p.Ala140Asp)
c.323C>A (p.Ala108Asp)
c.533C>A (p.Ala178Asp)
c.395C>A (p.Ala132Asp)
18g.31598650C>GCA402158270TTRc.419C>G (p.Ala140Gly)
c.323C>G (p.Ala108Gly)
c.533C>G (p.Ala178Gly)
c.395C>G (p.Ala132Gly)
18g.31598650C>TCA402158271TTRc.419C>T (p.Ala140Val)
c.323C>T (p.Ala108Val)
c.533C>T (p.Ala178Val)
c.395C>T (p.Ala132Val)
 COSMIC
18g.31598651T>ACA503610953TTRc.420T>A (p.Ala140=)
c.324T>A (p.Ala108=)
c.534T>A (p.Ala178=)
c.396T>A (p.Ala132=)
18g.31598651T>CCA503610954TTRc.420T>C (p.Ala140=)
c.324T>C (p.Ala108=)
c.534T>C (p.Ala178=)
c.396T>C (p.Ala132=)
 ClinVar
18g.31598651T>GCA503610955TTRc.420T>G (p.Ala140=)
c.324T>G (p.Ala108=)
c.534T>G (p.Ala178=)
c.396T>G (p.Ala132=)
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)
 ClinVar 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)
 ClinVar 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)
 ClinVar 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
18g.31598665C=CA2293889380TTRc.434C= (p.Pro145=)
c.338C= (p.Pro113=)
c.548C= (p.Pro183=)
c.410C= (p.Pro137=)
18g.31598665C>GCA402158299TTRc.434C>G (p.Pro145Arg)
c.338C>G (p.Pro113Arg)
c.548C>G (p.Pro183Arg)
c.410C>G (p.Pro137Arg)
18g.31598665C>TCA402158300TTRc.434C>T (p.Pro145Leu)
c.338C>T (p.Pro113Leu)
c.548C>T (p.Pro183Leu)
c.410C>T (p.Pro137Leu)
18g.31598666C>ACA503610974TTRc.435C>A (p.Pro145=)
c.339C>A (p.Pro113=)
c.549C>A (p.Pro183=)
c.411C>A (p.Pro137=)
18g.31598666C=CA2293889381TTRc.435C= (p.Pro145=)
c.339C= (p.Pro113=)
c.549C= (p.Pro183=)
c.411C= (p.Pro137=)
18g.31598666C>GCA503610975TTRc.435C>G (p.Pro145=)
c.339C>G (p.Pro113=)
c.549C>G (p.Pro183=)
c.411C>G (p.Pro137=)
18g.31598666C>TCA503610976TTRc.435C>T (p.Pro145=)
c.339C>T (p.Pro113=)
c.549C>T (p.Pro183=)
c.411C>T (p.Pro137=)
 dbSNP gnomAD v2 gnomAD v4
18g.31598667A>CCA402158302TTRc.436A>C (p.Lys146Gln)
c.340A>C (p.Lys114Gln)
c.550A>C (p.Lys184Gln)
c.412A>C (p.Lys138Gln)
18g.31598667A>GCA402158303TTRc.436A>G (p.Lys146Glu)
c.340A>G (p.Lys114Glu)
c.550A>G (p.Lys184Glu)
c.412A>G (p.Lys138Glu)
18g.31598667A>TCA402158301TTRc.436A>T (p.Lys146Ter)
c.340A>T (p.Lys114Ter)
c.550A>T (p.Lys184Ter)
c.412A>T (p.Lys138Ter)
18g.31598668A=CA2293889382TTRc.437A= (p.Lys146=)
c.341A= (p.Lys114=)
c.551A= (p.Lys184=)
c.413A= (p.Lys138=)
18g.31598668A>CCA402158304TTRc.437A>C (p.Lys146Thr)
c.341A>C (p.Lys114Thr)
c.551A>C (p.Lys184Thr)
c.413A>C (p.Lys138Thr)
18g.31598668A>GCA297551TTRc.437A>G (p.Lys146Arg)
c.341A>G (p.Lys114Arg)
c.551A>G (p.Lys184Arg)
c.413A>G (p.Lys138Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598668A>TCA402158305TTRc.437A>T (p.Lys146Met)
c.341A>T (p.Lys114Met)
c.551A>T (p.Lys184Met)
c.413A>T (p.Lys138Met)
18g.31598669G>ACA503610977TTRc.438G>A (p.Lys146=)
c.342G>A (p.Lys114=)
c.552G>A (p.Lys184=)
c.414G>A (p.Lys138=)
 ClinVar gnomAD v4
18g.31598669G>CCA402158306TTRc.438G>C (p.Lys146Asn)
c.342G>C (p.Lys114Asn)
c.552G>C (p.Lys184Asn)
c.414G>C (p.Lys138Asn)
18g.31598669G>TCA402158307TTRc.438G>T (p.Lys146Asn)
c.342G>T (p.Lys114Asn)
c.552G>T (p.Lys184Asn)
c.414G>T (p.Lys138Asn)
18g.31598670G>ACA402158308TTRc.439G>A (p.Glu147Lys)
c.343G>A (p.Glu115Lys)
c.553G>A (p.Glu185Lys)
c.415G>A (p.Glu139Lys)
18g.31598670G>CCA402158309TTRc.439G>C (p.Glu147Gln)
c.343G>C (p.Glu115Gln)
c.553G>C (p.Glu185Gln)
c.415G>C (p.Glu139Gln)
18g.31598670G=CA2293889383TTRc.439G= (p.Glu147=)
c.343G= (p.Glu115=)
c.553G= (p.Glu185=)
c.415G= (p.Glu139=)
18g.31598670G>TCA297516TTRc.439G>T (p.Glu147Ter)
c.343G>T (p.Glu115Ter)
c.553G>T (p.Glu185Ter)
c.415G>T (p.Glu139Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598671A=CA2293889384TTRc.440A= (p.Glu147=)
c.344A= (p.Glu115=)
c.554A= (p.Glu185=)
c.416A= (p.Glu139=)
18g.31598671A>CCA402158310TTRc.440A>C (p.Glu147Ala)
c.344A>C (p.Glu115Ala)
c.554A>C (p.Glu185Ala)
c.416A>C (p.Glu139Ala)
18g.31598671A>GCA402158311TTRc.440A>G (p.Glu147Gly)
c.344A>G (p.Glu115Gly)
c.554A>G (p.Glu185Gly)
c.416A>G (p.Glu139Gly)
18g.31598671A>TCA402158312TTRc.440A>T (p.Glu147Val)
c.344A>T (p.Glu115Val)
c.554A>T (p.Glu185Val)
c.416A>T (p.Glu139Val)
 dbSNP
18g.31598672A=CA2293889385TTRc.441A= (p.Glu147=)
c.345A= (p.Glu115=)
c.555A= (p.Glu185=)
c.417A= (p.Glu139=)
18g.31598672A>CCA402158313TTRc.441A>C (p.Glu147Asp)
c.345A>C (p.Glu115Asp)
c.555A>C (p.Glu185Asp)
c.417A>C (p.Glu139Asp)
18g.31598672A>GCA8928515TTRc.441A>G (p.Glu147=)
c.345A>G (p.Glu115=)
c.555A>G (p.Glu185=)
c.417A>G (p.Glu139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598672A>TCA8928516TTRc.441A>T (p.Glu147Asp)
c.345A>T (p.Glu115Asp)
c.555A>T (p.Glu185Asp)
c.417A>T (p.Glu139Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598673T>ACA402158314TTRc.442T>A (p.Ter148Arg)
c.346T>A (p.Ter116Arg)
c.556T>A (p.Ter186Arg)
c.418T>A (p.Ter140Arg)
18g.31598673T>CCA402158315TTRc.442T>C (p.Ter148Arg)
c.346T>C (p.Ter116Arg)
c.556T>C (p.Ter186Arg)
c.418T>C (p.Ter140Arg)
18g.31598673T>GCA402158316TTRc.442T>G (p.Ter148Gly)
c.346T>G (p.Ter116Gly)
c.556T>G (p.Ter186Gly)
c.418T>G (p.Ter140Gly)
18g.31598673_31598674delinsTGCA2293889386TTRc.442_443delinsTG (p.Ter148=)
c.346_347delinsTG (p.Ter116=)
c.556_557delinsTG (p.Ter186=)
c.418_419delinsTG (p.Ter140=)
18g.31598674delCA778418508TTRc.443del (p.Ter148=)
c.347del (p.Ter116=)
c.557del (p.Ter186=)
c.419del (p.Ter140=)
 dbSNP
18g.31598674G>ACA503610979TTRc.443G>A (p.Ter148=)
c.347G>A (p.Ter116=)
c.557G>A (p.Ter186=)
c.419G>A (p.Ter140=)
18g.31598674G>CCA402158317TTRc.443G>C (p.Ter148Ser)
c.347G>C (p.Ter116Ser)
c.557G>C (p.Ter186Ser)
c.419G>C (p.Ter140Ser)
18g.31598674G=CA2293889387TTRc.443G= (p.Ter148=)
c.347G= (p.Ter116=)
c.557G= (p.Ter186=)
c.419G= (p.Ter140=)
18g.31598674G>TCA402158318TTRc.443G>T (p.Ter148Leu)
c.347G>T (p.Ter116Leu)
c.557G>T (p.Ter186Leu)
c.419G>T (p.Ter140Leu)
18g.31598675A>CCA402158321TTRc.444A>C (p.Ter148Cys)
c.348A>C (p.Ter116Cys)
c.558A>C (p.Ter186Cys)
c.420A>C (p.Ter140Cys)
18g.31598675A>GCA402158319TTRc.444A>G (p.Ter148Trp)
c.348A>G (p.Ter116Trp)
c.558A>G (p.Ter186Trp)
c.420A>G (p.Ter140Trp)
18g.31598675A>TCA402158320TTRc.444A>T (p.Ter148Cys)
c.348A>T (p.Ter116Cys)
c.558A>T (p.Ter186Cys)
c.420A>T (p.Ter140Cys)
18g.31598676G>ACA778418521TTRc.*1G>A (n.*1G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.31598676G=CA2293889388TTRc.*1G= (n.*1G=)
18g.31598676G>TCA2812000758TTRc.*1G>T (n.*1G>T)
18g.31598677_31598686delinsGGACTTCTCCCA2293889389TTRc.*2_*11delinsGGACTTCTCC (n.*2_*11delinsGGACTTCTCC)
18g.31598678G>ACA988926138TTRc.*3G>A (n.*3G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.31598678G>CCA2293889391TTRc.*3G>C (n.*3G>C)
 dbSNP
18g.31598678G=CA2293889390TTRc.*3G= (n.*3G=)
18g.31598678_31598686delCA132596TTRc.*3_*11del (n.*3_*11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598679A=CA2293889392TTRc.*4A= (n.*4A=)
18g.31598679A>TCA988926147TTRc.*4A>T (n.*4A>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31598681T>CCA2641410502TTRc.*6T>C (n.*6T>C)
 gnomAD v4
18g.31598682_31598685delinsTCTCCA2293889393TTRc.*7_*10delinsTCTC (n.*7_*10delinsTCTC)
18g.31598683C>ACA2576480684TTRc.*8C>A (n.*8C>A)
 ClinVar gnomAD v4
18g.31598687_31598689delCA16620684TTRc.*12_*14del (n.*12_*14del)
 ClinVar dbSNP gnomAD v4
18g.31598685C=CA2293889394TTRc.*10C= (n.*10C=)
18g.31598685C>TCA778418539TTRc.*10C>T (n.*10C>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31598687_31598688insTCAGGTCA2641410503TTRc.*12_*13insTCAGGT (n.*12_*13insTCAGGT)
 gnomAD v4
18g.31598688C=CA2293889395TTRc.*13C= (n.*13C=)
18g.31598688C>TCA297742032TTRc.*13C>T (n.*13C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598690A=CA2293889396TTRc.*15A= (n.*15A=)
18g.31598690A>GCA778418563TTRc.*15A>G (n.*15A>G)
 dbSNP gnomAD v3 gnomAD v4
18g.31598691G>CCA2641410504TTRc.*16G>C (n.*16G>C)
 gnomAD v4
18g.31598692T>ACA297742037TTRc.*17T>A (n.*17T>A)
 dbSNP
18g.31598692T>CCA2641410505TTRc.*17T>C (n.*17T>C)
 gnomAD v4
18g.31598692T=CA2293889397TTRc.*17T= (n.*17T=)
18g.31598693G>ACA2641410506TTRc.*18G>A (n.*18G>A)
 gnomAD v4
18g.31598694G>TCA2576480685TTRc.*19G>T (n.*19G>T)
18g.31598695A>GCA2576480686TTRc.*20A>G (n.*20A>G)
 gnomAD v4
18g.31598696C>ACA8928517TTRc.*21C>A (n.*21C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598696C=CA2293889398TTRc.*21C= (n.*21C=)
18g.31598696C>GCA2581341167TTRc.*21C>G (n.*21C>G)
 gnomAD v4
18g.31598696C>TCA297742056TTRc.*21C>T (n.*21C>T)
 dbSNP
18g.31598697C=CA2293889399TTRc.*22C= (n.*22C=)
18g.31598697C>GCA2641410508TTRc.*22C>G (n.*22C>G)
 gnomAD v4
18g.31598697C>TCA297742065TTRc.*22C>T (n.*22C>T)
 dbSNP gnomAD v4
18g.31598697_31598698insACCA2641410507TTRc.*22_*23insAC (n.*22_*23insAC)
 gnomAD v4
18g.31598698T>ACA2293889401TTRc.*23T>A (n.*23T>A)
 dbSNP gnomAD v4
18g.31598698T>CCA2293889402TTRc.*23T>C (n.*23T>C)
 dbSNP gnomAD v4
18g.31598698T=CA2293889400TTRc.*23T= (n.*23T=)
18g.31598699G>ACA629155255TTRc.*24G>A (n.*24G>A)
 dbSNP gnomAD v2
18g.31598699G=CA2293889403TTRc.*24G= (n.*24G=)
18g.31598702G=CA2293889404TTRc.*27G= (n.*27G=)
18g.31598702G>TCA778418576TTRc.*27G>T (n.*27G>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31598703G>ACA2641410509TTRc.*28G>A (n.*28G>A)
 gnomAD v4
18g.31598705C=CA2293889405TTRc.*30C= (n.*30C=)
18g.31598705C>TCA8928518TTRc.*30C>T (n.*30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598706G>ACA8928519TTRc.*31G>A (n.*31G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598706G=CA2293889406TTRc.*31G= (n.*31G=)
18g.31598707A=CA2293889407TTRc.*32A= (n.*32A=)
18g.31598707A>GCA629155257TTRc.*32A>G (n.*32A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31598708G>ACA2641410510TTRc.*33G>A (n.*33G>A)
 gnomAD v4
18g.31598709G>ACA629155258TTRc.*34G>A (n.*34G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598709G=CA2293889408TTRc.*34G= (n.*34G=)
18g.31598709G>TCA2576480687TTRc.*34G>T (n.*34G>T)
18g.31598710G>TCA2812000769TTRc.*35G>T (n.*35G>T)
18g.31598712T>CCA2576480688TTRc.*37T>C (n.*37T>C)
18g.31598713G>TCA2812000770TTRc.*38G>T (n.*38G>T)

Number of alleles fetched