Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31089521C>ACA038791DSC2c.119G>T (p.Arg40Leu)
c.548G>T (p.Arg183Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.31089521C=CA2293654955DSC2c.119G= (p.Arg40=)
c.548G= (p.Arg183=)
18g.31089521C>GCA402113615DSC2c.119G>C (p.Arg40Pro)
c.548G>C (p.Arg183Pro)
18g.31089521C>TCA038782DSC2c.119G>A (p.Arg40Gln)
c.548G>A (p.Arg183Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089521_31089522insTGCA2811993244DSC2c.118_119insCA (p.Arg40ProfsTer20)
c.547_548insCA (p.Arg183ProfsTer20)
18g.31089522G>ACA038773DSC2c.118C>T (p.Arg40Trp)
c.547C>T (p.Arg183Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089522G>CCA402113616DSC2c.118C>G (p.Arg40Gly)
c.547C>G (p.Arg183Gly)
18g.31089522G=CA2293654956DSC2c.118C= (p.Arg40=)
c.547C= (p.Arg183=)
18g.31089522G>TCA503390342DSC2c.118C>A (p.Arg40=)
c.547C>A (p.Arg183=)
18g.31089523A>CCA503390345DSC2c.117T>G (p.Pro39=)
c.546T>G (p.Pro182=)
18g.31089523A>GCA503390347DSC2c.117T>C (p.Pro39=)
c.546T>C (p.Pro182=)
18g.31089523A>TCA503390349DSC2c.117T>A (p.Pro39=)
c.546T>A (p.Pro182=)
18g.31089524G>ACA402113617DSC2c.116C>T (p.Pro39Leu)
c.545C>T (p.Pro182Leu)
 ClinVar gnomAD v4
18g.31089524G>CCA402113618DSC2c.116C>G (p.Pro39Arg)
c.545C>G (p.Pro182Arg)
18g.31089524G>TCA402113619DSC2c.116C>A (p.Pro39His)
c.545C>A (p.Pro182His)
18g.31089525G>ACA402113622DSC2c.115C>T (p.Pro39Ser)
c.544C>T (p.Pro182Ser)
 COSMIC COSMIC
18g.31089525G>CCA402113621DSC2c.115C>G (p.Pro39Ala)
c.544C>G (p.Pro182Ala)
18g.31089525G>TCA402113620DSC2c.115C>A (p.Pro39Thr)
c.544C>A (p.Pro182Thr)
18g.31089525_31089526delCA2811993245DSC2c.114_115del (p.Glu38AspfsTer23)
c.543_544del (p.Glu181AspfsTer23)
18g.31089526T>ACA402113623DSC2c.114A>T (p.Glu38Asp)
c.543A>T (p.Glu181Asp)
18g.31089526T>CCA503390361DSC2c.114A>G (p.Glu38=)
c.543A>G (p.Glu181=)
18g.31089526T>GCA402113624DSC2c.114A>C (p.Glu38Asp)
c.543A>C (p.Glu181Asp)
18g.31089527T>ACA402113625DSC2c.113A>T (p.Glu38Val)
c.542A>T (p.Glu181Val)
18g.31089527T>CCA402113626DSC2c.113A>G (p.Glu38Gly)
c.542A>G (p.Glu181Gly)
 dbSNP
18g.31089527T>GCA402113627DSC2c.113A>C (p.Glu38Ala)
c.542A>C (p.Glu181Ala)
18g.31089527T=CA2293654957DSC2c.113A= (p.Glu38=)
c.542A= (p.Glu181=)
18g.31089528C>ACA402113628DSC2c.112G>T (p.Glu38Ter)
c.541G>T (p.Glu181Ter)
18g.31089528C>GCA402113629DSC2c.112G>C (p.Glu38Gln)
c.541G>C (p.Glu181Gln)
18g.31089528C>TCA402113630DSC2c.112G>A (p.Glu38Lys)
c.541G>A (p.Glu181Lys)
18g.31089529T>ACA402113631DSC2c.111A>T (p.Gln37His)
c.540A>T (p.Gln180His)
18g.31089529T>CCA503390373DSC2c.111A>G (p.Gln37=)
c.540A>G (p.Gln180=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089529T>GCA402113632DSC2c.111A>C (p.Gln37His)
c.540A>C (p.Gln180His)
18g.31089529T=CA2293654958DSC2c.111A= (p.Gln37=)
c.540A= (p.Gln180=)
18g.31089530T>ACA402113633DSC2c.110A>T (p.Gln37Leu)
c.539A>T (p.Gln180Leu)
18g.31089530T>CCA402113634DSC2c.110A>G (p.Gln37Arg)
c.539A>G (p.Gln180Arg)
18g.31089530T>GCA402113635DSC2c.110A>C (p.Gln37Pro)
c.539A>C (p.Gln180Pro)
18g.31089531G>ACA402113636DSC2c.109C>T (p.Gln37Ter)
c.538C>T (p.Gln180Ter)
 gnomAD v4
18g.31089531G>CCA402113638DSC2c.109C>G (p.Gln37Glu)
c.538C>G (p.Gln180Glu)
18g.31089531G>TCA402113637DSC2c.109C>A (p.Gln37Lys)
c.538C>A (p.Gln180Lys)
18g.31089532G>ACA503390383DSC2c.108C>T (p.Asp36=)
c.537C>T (p.Asp179=)
18g.31089532G>CCA402113639DSC2c.108C>G (p.Asp36Glu)
c.537C>G (p.Asp179Glu)
18g.31089532G=CA2293654959DSC2c.108C= (p.Asp36=)
c.537C= (p.Asp179=)
18g.31089532G>TCA402113640DSC2c.108C>A (p.Asp36Glu)
c.537C>A (p.Asp179Glu)
 ClinVar dbSNP
18g.31089533T>ACA402113641DSC2c.107A>T (p.Asp36Val)
c.536A>T (p.Asp179Val)
18g.31089533T>CCA022861DSC2c.107A>G (p.Asp36Gly)
c.536A>G (p.Asp179Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089533T>GCA402113642DSC2c.107A>C (p.Asp36Ala)
c.536A>C (p.Asp179Ala)
18g.31089533T=CA2293654960DSC2c.107A= (p.Asp36=)
c.536A= (p.Asp179=)
18g.31089534C>ACA402113643DSC2c.106G>T (p.Asp36Tyr)
c.535G>T (p.Asp179Tyr)
 gnomAD v4
18g.31089534C>GCA402113644DSC2c.106G>C (p.Asp36His)
c.535G>C (p.Asp179His)
18g.31089534C>TCA402113645DSC2c.106G>A (p.Asp36Asn)
c.535G>A (p.Asp179Asn)
 gnomAD v4
18g.31089535A=CA2293654961DSC2c.105T= (p.Val35=)
c.534T= (p.Val178=)
18g.31089535A>CCA503390389DSC2c.105T>G (p.Val35=)
c.534T>G (p.Val178=)
 ClinVar dbSNP
18g.31089535A>GCA503390391DSC2c.105T>C (p.Val35=)
c.534T>C (p.Val178=)
18g.31089535A>TCA503390392DSC2c.105T>A (p.Val35=)
c.534T>A (p.Val178=)
18g.31089536A>CCA402113646DSC2c.104T>G (p.Val35Gly)
c.533T>G (p.Val178Gly)
18g.31089536A>GCA402113647DSC2c.104T>C (p.Val35Ala)
c.533T>C (p.Val178Ala)
18g.31089536A>TCA402113648DSC2c.104T>A (p.Val35Asp)
c.533T>A (p.Val178Asp)
18g.31089537C>ACA402113650DSC2c.103G>T (p.Val35Phe)
c.532G>T (p.Val178Phe)
18g.31089537C>GCA402113651DSC2c.103G>C (p.Val35Leu)
c.532G>C (p.Val178Leu)
18g.31089537C>TCA402113649DSC2c.103G>A (p.Val35Ile)
c.532G>A (p.Val178Ile)
18g.31089538T>ACA503390402DSC2c.102A>T (p.Gly34=)
c.531A>T (p.Gly177=)
18g.31089538T>CCA503390403DSC2c.102A>G (p.Gly34=)
c.531A>G (p.Gly177=)
 dbSNP
18g.31089538T>GCA503390406DSC2c.102A>C (p.Gly34=)
c.531A>C (p.Gly177=)
18g.31089538T=CA2293654962DSC2c.102A= (p.Gly34=)
c.531A= (p.Gly177=)
18g.31089539C>ACA402113652DSC2c.101G>T (p.Gly34Val)
c.530G>T (p.Gly177Val)
18g.31089539C=CA2293654963DSC2c.101G= (p.Gly34=)
c.530G= (p.Gly177=)
18g.31089539C>GCA402113653DSC2c.101G>C (p.Gly34Ala)
c.530G>C (p.Gly177Ala)
 ClinVar
18g.31089539C>TCA402113654DSC2c.101G>A (p.Gly34Glu)
c.530G>A (p.Gly177Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.31089540C>ACA402113655DSC2c.100G>T (p.Gly34Ter)
c.529G>T (p.Gly177Ter)
18g.31089540C=CA2293654964DSC2c.100G= (p.Gly34=)
c.529G= (p.Gly177=)
18g.31089540C>GCA402113656DSC2c.100G>C (p.Gly34Arg)
c.529G>C (p.Gly177Arg)
18g.31089540C>TCA402113657DSC2c.100G>A (p.Gly34Arg)
c.529G>A (p.Gly177Arg)
 ClinVar dbSNP gnomAD v4
18g.31089541A>CCA503390414DSC2c.99T>G (p.Pro33=)
c.528T>G (p.Pro176=)
18g.31089541A>GCA503390419DSC2c.99T>C (p.Pro33=)
c.528T>C (p.Pro176=)
18g.31089541A>TCA503390416DSC2c.99T>A (p.Pro33=)
c.528T>A (p.Pro176=)
18g.31089542G>ACA402113658DSC2c.98C>T (p.Pro33Leu)
c.527C>T (p.Pro176Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.31089542G>CCA402113659DSC2c.98C>G (p.Pro33Arg)
c.527C>G (p.Pro176Arg)
 dbSNP
18g.31089542G=CA2293654965DSC2c.98C= (p.Pro33=)
c.527C= (p.Pro176=)
18g.31089542G>TCA402113662DSC2c.98C>A (p.Pro33His)
c.527C>A (p.Pro176His)
18g.31089543G>ACA402113664DSC2c.97C>T (p.Pro33Ser)
c.526C>T (p.Pro176Ser)
18g.31089543G>CCA402113666DSC2c.97C>G (p.Pro33Ala)
c.526C>G (p.Pro176Ala)
 gnomAD v4
18g.31089543G>TCA402113668DSC2c.97C>A (p.Pro33Thr)
c.526C>A (p.Pro176Thr)
18g.31089544A=CA2293654966DSC2c.96T= (p.Gly32=)
c.525T= (p.Gly175=)
18g.31089544A>CCA503390427DSC2c.96T>G (p.Gly32=)
c.525T>G (p.Gly175=)
18g.31089544A>GCA297641928DSC2c.96T>C (p.Gly32=)
c.525T>C (p.Gly175=)
 ClinVar dbSNP gnomAD v4
18g.31089544A>TCA503390431DSC2c.96T>A (p.Gly32=)
c.525T>A (p.Gly175=)
 ClinVar
18g.31089545C>ACA402113676DSC2c.95G>T (p.Gly32Val)
c.524G>T (p.Gly175Val)
18g.31089545C>GCA402113674DSC2c.95G>C (p.Gly32Ala)
c.524G>C (p.Gly175Ala)
18g.31089545C>TCA402113672DSC2c.95G>A (p.Gly32Asp)
c.524G>A (p.Gly175Asp)
 gnomAD v4
18g.31089546C>ACA402113678DSC2c.94G>T (p.Gly32Cys)
c.523G>T (p.Gly175Cys)
18g.31089546C>GCA402113679DSC2c.94G>C (p.Gly32Arg)
c.523G>C (p.Gly175Arg)
18g.31089546C>TCA402113682DSC2c.94G>A (p.Gly32Ser)
c.523G>A (p.Gly175Ser)
 ClinVar gnomAD v4
18g.31089547T>ACA402113684DSC2c.93A>T (p.Arg31Ser)
c.522A>T (p.Arg174Ser)
18g.31089547T>CCA503390441DSC2c.93A>G (p.Arg31=)
c.522A>G (p.Arg174=)
 gnomAD v4
18g.31089547T>GCA402113686DSC2c.93A>C (p.Arg31Ser)
c.522A>C (p.Arg174Ser)
18g.31089548C>ACA402113688DSC2c.92G>T (p.Arg31Ile)
c.521G>T (p.Arg174Ile)
18g.31089548C>GCA402113690DSC2c.92G>C (p.Arg31Thr)
c.521G>C (p.Arg174Thr)
 ClinVar
18g.31089548C>TCA402113692DSC2c.92G>A (p.Arg31Lys)
c.521G>A (p.Arg174Lys)
 dbSNP
18g.31089549T>ACA402113694DSC2c.91A>T (p.Arg31Ter)
c.520A>T (p.Arg174Ter)
18g.31089549T>CCA402113696DSC2c.91A>G (p.Arg31Gly)
c.520A>G (p.Arg174Gly)
18g.31089549T>GCA503390450DSC2c.91A>C (p.Arg31=)
c.520A>C (p.Arg174=)
18g.31089550T>ACA503390452DSC2c.90A>T (p.Ile30=)
c.519A>T (p.Ile173=)
18g.31089550T>CCA402113698DSC2c.90A>G (p.Ile30Met)
c.519A>G (p.Ile173Met)
 dbSNP gnomAD v4
18g.31089550T>GCA503390455DSC2c.90A>C (p.Ile30=)
c.519A>C (p.Ile173=)
18g.31089550T=CA2293654967DSC2c.90A= (p.Ile30=)
c.519A= (p.Ile173=)
18g.31089555_31089566delCA2641389091DSC2c.79_90del (p.Tyr27_Ile30del)
c.508_519del (p.Tyr170_Ile173del)
 gnomAD v4
18g.31089551A>CCA402113701DSC2c.89T>G (p.Ile30Arg)
c.518T>G (p.Ile173Arg)
18g.31089551A>GCA402113703DSC2c.89T>C (p.Ile30Thr)
c.518T>C (p.Ile173Thr)
18g.31089551A>TCA402113704DSC2c.89T>A (p.Ile30Lys)
c.518T>A (p.Ile173Lys)
18g.31089552T>ACA038756DSC2c.88A>T (p.Ile30Leu)
c.517A>T (p.Ile173Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089552T>CCA402113708DSC2c.88A>G (p.Ile30Val)
c.517A>G (p.Ile173Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31089552T>GCA402113706DSC2c.88A>C (p.Ile30Leu)
c.517A>C (p.Ile173Leu)
18g.31089552T=CA2293654968DSC2c.88A= (p.Ile30=)
c.517A= (p.Ile173=)
18g.31089553G>ACA503390465DSC2c.87C>T (p.Ser29=)
c.516C>T (p.Ser172=)
18g.31089553G>CCA503390466DSC2c.87C>G (p.Ser29=)
c.516C>G (p.Ser172=)
18g.31089553G>TCA503390468DSC2c.87C>A (p.Ser29=)
c.516C>A (p.Ser172=)
18g.31089554G>ACA038745DSC2c.86C>T (p.Ser29Phe)
c.515C>T (p.Ser172Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089554G>CCA402113710DSC2c.86C>G (p.Ser29Cys)
c.515C>G (p.Ser172Cys)
18g.31089554G=CA2293654969DSC2c.86C= (p.Ser29=)
c.515C= (p.Ser172=)
18g.31089554G>TCA402113712DSC2c.86C>A (p.Ser29Tyr)
c.515C>A (p.Ser172Tyr)
18g.31089555A>CCA402113714DSC2c.85T>G (p.Ser29Ala)
c.514T>G (p.Ser172Ala)
18g.31089555A>GCA402113715DSC2c.85T>C (p.Ser29Pro)
c.514T>C (p.Ser172Pro)
18g.31089555A>TCA402113717DSC2c.85T>A (p.Ser29Thr)
c.514T>A (p.Ser172Thr)
18g.31089556A>CCA402113719DSC2c.84T>G (p.Tyr28Ter)
c.513T>G (p.Tyr171Ter)
18g.31089556A>GCA503390476DSC2c.84T>C (p.Tyr28=)
c.513T>C (p.Tyr171=)
 dbSNP
18g.31089556A>TCA402113722DSC2c.84T>A (p.Tyr28Ter)
c.513T>A (p.Tyr171Ter)
18g.31089557T>ACA402113724DSC2c.83A>T (p.Tyr28Phe)
c.512A>T (p.Tyr171Phe)
18g.31089557T>CCA402113726DSC2c.83A>G (p.Tyr28Cys)
c.512A>G (p.Tyr171Cys)
18g.31089557T>GCA402113728DSC2c.83A>C (p.Tyr28Ser)
c.512A>C (p.Tyr171Ser)
18g.31089558A>CCA402113730DSC2c.82T>G (p.Tyr28Asp)
c.511T>G (p.Tyr171Asp)
 gnomAD v4
18g.31089558A>GCA402113731DSC2c.82T>C (p.Tyr28His)
c.511T>C (p.Tyr171His)
18g.31089558A>TCA402113732DSC2c.82T>A (p.Tyr28Asn)
c.511T>A (p.Tyr171Asn)
18g.31089559G>ACA503390489DSC2c.81C>T (p.Tyr27=)
c.510C>T (p.Tyr170=)
18g.31089559G>CCA402113735DSC2c.81C>G (p.Tyr27Ter)
c.510C>G (p.Tyr170Ter)
18g.31089559G>TCA402113733DSC2c.81C>A (p.Tyr27Ter)
c.510C>A (p.Tyr170Ter)
18g.31089560T>ACA402113738DSC2c.80A>T (p.Tyr27Phe)
c.509A>T (p.Tyr170Phe)
18g.31089560T>CCA038736DSC2c.80A>G (p.Tyr27Cys)
c.509A>G (p.Tyr170Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089560T>GCA402113741DSC2c.80A>C (p.Tyr27Ser)
c.509A>C (p.Tyr170Ser)
18g.31089560T=CA2293654970DSC2c.80A= (p.Tyr27=)
c.509A= (p.Tyr170=)
18g.31089561A=CA2293654971DSC2c.79T= (p.Tyr27=)
c.508T= (p.Tyr170=)
18g.31089561A>CCA402113743DSC2c.79T>G (p.Tyr27Asp)
c.508T>G (p.Tyr170Asp)
18g.31089561A>GCA402113745DSC2c.79T>C (p.Tyr27His)
c.508T>C (p.Tyr170His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31089561A>TCA402113747DSC2c.79T>A (p.Tyr27Asn)
c.508T>A (p.Tyr170Asn)
18g.31089562T>ACA503390500DSC2c.78A>T (p.Ile26=)
c.507A>T (p.Ile169=)
18g.31089562T>CCA402113749DSC2c.78A>G (p.Ile26Met)
c.507A>G (p.Ile169Met)
18g.31089562T>GCA503390502DSC2c.78A>C (p.Ile26=)
c.507A>C (p.Ile169=)
18g.31089563A=CA2293654972DSC2c.77T= (p.Ile26=)
c.506T= (p.Ile169=)
18g.31089563A>CCA402113751DSC2c.77T>G (p.Ile26Arg)
c.506T>G (p.Ile169Arg)
18g.31089563A>GCA402113753DSC2c.77T>C (p.Ile26Thr)
c.506T>C (p.Ile169Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31089563A>TCA402113754DSC2c.77T>A (p.Ile26Lys)
c.506T>A (p.Ile169Lys)
18g.31089564T>ACA402113756DSC2c.76A>T (p.Ile26Leu)
c.505A>T (p.Ile169Leu)
18g.31089564T>CCA402113759DSC2c.76A>G (p.Ile26Val)
c.505A>G (p.Ile169Val)
 dbSNP gnomAD v4
18g.31089564T>GCA402113761DSC2c.76A>C (p.Ile26Leu)
c.505A>C (p.Ile169Leu)
18g.31089564T=CA2293654973DSC2c.76A= (p.Ile26=)
c.505A= (p.Ile169=)
18g.31089565G>ACA503390511DSC2c.75C>T (p.Thr25=)
c.504C>T (p.Thr168=)
 gnomAD v4
18g.31089565G>CCA503390512DSC2c.75C>G (p.Thr25=)
c.504C>G (p.Thr168=)
18g.31089565G>TCA503390514DSC2c.75C>A (p.Thr25=)
c.504C>A (p.Thr168=)
18g.31089566G>ACA402113763DSC2c.74C>T (p.Thr25Ile)
c.503C>T (p.Thr168Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.31089566G>CCA402113767DSC2c.74C>G (p.Thr25Ser)
c.503C>G (p.Thr168Ser)
 ClinVar
18g.31089566G=CA2293654974DSC2c.74C= (p.Thr25=)
c.503C= (p.Thr168=)
18g.31089566G>TCA402113765DSC2c.74C>A (p.Thr25Asn)
c.503C>A (p.Thr168Asn)
 gnomAD v4
18g.31089567T>ACA402113768DSC2c.73A>T (p.Thr25Ser)
c.502A>T (p.Thr168Ser)
18g.31089567T>CCA038727DSC2c.73A>G (p.Thr25Ala)
c.502A>G (p.Thr168Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089567T>GCA402113771DSC2c.73A>C (p.Thr25Pro)
c.502A>C (p.Thr168Pro)
18g.31089567T=CA2293654975DSC2c.73A= (p.Thr25=)
c.502A= (p.Thr168=)
18g.31089569_31089570dupCA2573332954DSC2c.72_73dup (p.Thr25IlefsTer7)
c.501_502dup (p.Thr168IlefsTer7)
 ClinVar dbSNP
18g.31089569_31089570delCA2641389092DSC2c.72_73del (p.Thr25HisfsTer11)
c.501_502del (p.Thr168HisfsTer11)
 gnomAD v4
18g.31089568A=CA2293654976DSC2c.72T= (p.Tyr24=)
c.501T= (p.Tyr167=)
18g.31089568A>CCA402113773DSC2c.72T>G (p.Tyr24Ter)
c.501T>G (p.Tyr167Ter)
18g.31089568A>GCA503390526DSC2c.72T>C (p.Tyr24=)
c.501T>C (p.Tyr167=)
 COSMIC COSMIC
18g.31089568A>TCA402113775DSC2c.72T>A (p.Tyr24Ter)
c.501T>A (p.Tyr167Ter)
18g.31089569T>ACA402113777DSC2c.71A>T (p.Tyr24Phe)
c.500A>T (p.Tyr167Phe)
18g.31089569T>CCA402113779DSC2c.71A>G (p.Tyr24Cys)
c.500A>G (p.Tyr167Cys)
 gnomAD v4
18g.31089569T>GCA402113781DSC2c.71A>C (p.Tyr24Ser)
c.500A>C (p.Tyr167Ser)
 ClinVar dbSNP gnomAD v4
18g.31089569T=CA2293654977DSC2c.71A= (p.Tyr24=)
c.500A= (p.Tyr167=)
18g.31089570_31089573dupCA778399800DSC2c.68_71dup (p.Tyr24Ter)
c.497_500dup (p.Tyr167Ter)
 dbSNP
18g.31089570A>CCA402113784DSC2c.70T>G (p.Tyr24Asp)
c.499T>G (p.Tyr167Asp)
18g.31089570A>GCA402113785DSC2c.70T>C (p.Tyr24His)
c.499T>C (p.Tyr167His)
18g.31089570A>TCA402113787DSC2c.70T>A (p.Tyr24Asn)
c.499T>A (p.Tyr167Asn)
18g.31089571G>ACA503390535DSC2c.69C>T (p.Asn23=)
c.498C>T (p.Asn166=)
18g.31089571G>CCA402113789DSC2c.69C>G (p.Asn23Lys)
c.498C>G (p.Asn166Lys)
18g.31089571G>TCA402113791DSC2c.69C>A (p.Asn23Lys)
c.498C>A (p.Asn166Lys)
18g.31089572T>ACA402113798DSC2c.68A>T (p.Asn23Ile)
c.497A>T (p.Asn166Ile)
18g.31089572T>CCA402113796DSC2c.68A>G (p.Asn23Ser)
c.497A>G (p.Asn166Ser)
18g.31089572T>GCA402113794DSC2c.68A>C (p.Asn23Thr)
c.497A>C (p.Asn166Thr)
18g.31089575delCA2641389094DSC2c.68del (p.Asn23ThrfsTer8)
c.497del (p.Asn166ThrfsTer8)
 gnomAD v4
18g.31089573T>ACA402113800DSC2c.67A>T (p.Asn23Tyr)
c.496A>T (p.Asn166Tyr)
18g.31089573T>CCA402113802DSC2c.67A>G (p.Asn23Asp)
c.496A>G (p.Asn166Asp)
18g.31089573T>GCA402113804DSC2c.67A>C (p.Asn23His)
c.496A>C (p.Asn166His)
18g.31089574T>ACA402113806DSC2c.66A>T (p.Gln22His)
c.495A>T (p.Gln165His)
18g.31089574T>CCA503390547DSC2c.66A>G (p.Gln22=)
c.495A>G (p.Gln165=)
 ClinVar
18g.31089574T>GCA402113808DSC2c.66A>C (p.Gln22His)
c.495A>C (p.Gln165His)
18g.31089575T>ACA402113810DSC2c.65A>T (p.Gln22Leu)
c.494A>T (p.Gln165Leu)
18g.31089575T>CCA402113812DSC2c.65A>G (p.Gln22Arg)
c.494A>G (p.Gln165Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.31089575T>GCA402113814DSC2c.65A>C (p.Gln22Pro)
c.494A>C (p.Gln165Pro)
18g.31089575T=CA2293654978DSC2c.65A= (p.Gln22=)
c.494A= (p.Gln165=)
18g.31089576G>ACA402113816DSC2c.64C>T (p.Gln22Ter)
c.493C>T (p.Gln165Ter)
18g.31089576G>CCA402113818DSC2c.64C>G (p.Gln22Glu)
c.493C>G (p.Gln165Glu)
 gnomAD v4
18g.31089576G>TCA402113820DSC2c.64C>A (p.Gln22Lys)
c.493C>A (p.Gln165Lys)
18g.31089577G>ACA503390555DSC2c.63C>T (p.Ala21=)
c.492C>T (p.Ala164=)
18g.31089577G>CCA503390557DSC2c.63C>G (p.Ala21=)
c.492C>G (p.Ala164=)
18g.31089577G>TCA503390559DSC2c.63C>A (p.Ala21=)
c.492C>A (p.Ala164=)
18g.31089578G>ACA402113822DSC2c.62C>T (p.Ala21Val)
c.491C>T (p.Ala164Val)
18g.31089578G>CCA402113824DSC2c.62C>G (p.Ala21Gly)
c.491C>G (p.Ala164Gly)
18g.31089578G>TCA402113826DSC2c.62C>A (p.Ala21Asp)
c.491C>A (p.Ala164Asp)
18g.31089579C>ACA402113830DSC2c.61G>T (p.Ala21Ser)
c.490G>T (p.Ala164Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.31089579C=CA2293654979DSC2c.61G= (p.Ala21=)
c.490G= (p.Ala164=)
18g.31089579C>GCA402113832DSC2c.61G>C (p.Ala21Pro)
c.490G>C (p.Ala164Pro)
18g.31089579C>TCA297641977DSC2c.61G>A (p.Ala21Thr)
c.490G>A (p.Ala164Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089580C>ACA503390560DSC2c.60G>T (p.Thr20=)
c.489G>T (p.Thr163=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31089580C=CA2293654980DSC2c.60G= (p.Thr20=)
c.489G= (p.Thr163=)
18g.31089580C>GCA503390561DSC2c.60G>C (p.Thr20=)
c.489G>C (p.Thr163=)
 dbSNP
18g.31089580C>TCA038670DSC2c.60G>A (p.Thr20=)
c.489G>A (p.Thr163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089581G>ACA038653DSC2c.59C>T (p.Thr20Met)
c.488C>T (p.Thr163Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089581G>CCA402113837DSC2c.59C>G (p.Thr20Arg)
c.488C>G (p.Thr163Arg)
18g.31089581G=CA2293654981DSC2c.59C= (p.Thr20=)
c.488C= (p.Thr163=)
18g.31089581G>TCA402113839DSC2c.59C>A (p.Thr20Lys)
c.488C>A (p.Thr163Lys)
 ClinVar dbSNP gnomAD v4
18g.31089582T>ACA402113841DSC2c.58A>T (p.Thr20Ser)
c.487A>T (p.Thr163Ser)
18g.31089582T>CCA402113843DSC2c.58A>G (p.Thr20Ala)
c.487A>G (p.Thr163Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.31089582T>GCA402113845DSC2c.58A>C (p.Thr20Pro)
c.487A>C (p.Thr163Pro)
18g.31089582T=CA2293654982DSC2c.58A= (p.Thr20=)
c.487A= (p.Thr163=)
18g.31089583G>ACA503390566DSC2c.57C>T (p.Asp19=)
c.486C>T (p.Asp162=)
 dbSNP
18g.31089583G>CCA402113847DSC2c.57C>G (p.Asp19Glu)
c.486C>G (p.Asp162Glu)
18g.31089583G=CA2293654983DSC2c.57C= (p.Asp19=)
c.486C= (p.Asp162=)
18g.31089583G>TCA402113849DSC2c.57C>A (p.Asp19Glu)
c.486C>A (p.Asp162Glu)
18g.31089584T>ACA402113850DSC2c.56A>T (p.Asp19Val)
c.485A>T (p.Asp162Val)
 gnomAD v4
18g.31089584T>CCA402113852DSC2c.56A>G (p.Asp19Gly)
c.485A>G (p.Asp162Gly)
18g.31089584T>GCA402113854DSC2c.56A>C (p.Asp19Ala)
c.485A>C (p.Asp162Ala)
18g.31089585C>ACA402113859DSC2c.55G>T (p.Asp19Tyr)
c.484G>T (p.Asp162Tyr)
18g.31089585C>GCA402113856DSC2c.55G>C (p.Asp19His)
c.484G>C (p.Asp162His)
18g.31089585C>TCA402113857DSC2c.55G>A (p.Asp19Asn)
c.484G>A (p.Asp162Asn)
18g.31089586A>CCA503390574DSC2c.54T>G (p.Ser18=)
c.483T>G (p.Ser161=)
18g.31089586A>GCA503390576DSC2c.54T>C (p.Ser18=)
c.483T>C (p.Ser161=)
18g.31089586A>TCA503390578DSC2c.54T>A (p.Ser18=)
c.483T>A (p.Ser161=)
18g.31089587G>ACA402113861DSC2c.53C>T (p.Ser18Phe)
c.482C>T (p.Ser161Phe)
 ClinVar
18g.31089587G>CCA402113863DSC2c.53C>G (p.Ser18Cys)
c.482C>G (p.Ser161Cys)
18g.31089587G>TCA402113864DSC2c.53C>A (p.Ser18Tyr)
c.482C>A (p.Ser161Tyr)
18g.31089588A>CCA402113866DSC2c.52T>G (p.Ser18Ala)
c.481T>G (p.Ser161Ala)
18g.31089588A>GCA402113868DSC2c.52T>C (p.Ser18Pro)
c.481T>C (p.Ser161Pro)
18g.31089588A>TCA402113870DSC2c.52T>A (p.Ser18Thr)
c.481T>A (p.Ser161Thr)
18g.31089589T>ACA402113872DSC2c.51A>T (p.Gln17His)
c.480A>T (p.Gln160His)
18g.31089589T>CCA503390589DSC2c.51A>G (p.Gln17=)
c.480A>G (p.Gln160=)
18g.31089589T>GCA402113874DSC2c.51A>C (p.Gln17His)
c.480A>C (p.Gln160His)
18g.31089590T>ACA402113876DSC2c.50A>T (p.Gln17Leu)
c.479A>T (p.Gln160Leu)
18g.31089590T>CCA402113879DSC2c.50A>G (p.Gln17Arg)
c.479A>G (p.Gln160Arg)
18g.31089590T>GCA402113880DSC2c.50A>C (p.Gln17Pro)
c.479A>C (p.Gln160Pro)
18g.31089591G>ACA402113882DSC2c.49C>T (p.Gln17Ter)
c.478C>T (p.Gln160Ter)
18g.31089591G>CCA402113881DSC2c.49C>G (p.Gln17Glu)
c.478C>G (p.Gln160Glu)
18g.31089591G=CA2293654984DSC2c.49C= (p.Gln17=)
c.478C= (p.Gln160=)
18g.31089591G>TCA038641DSC2c.49C>A (p.Gln17Lys)
c.478C>A (p.Gln160Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089592A>CCA503390600DSC2c.48T>G (p.Val16=)
c.477T>G (p.Val159=)
18g.31089592A>GCA503390602DSC2c.48T>C (p.Val16=)
c.477T>C (p.Val159=)
18g.31089592A>TCA503390598DSC2c.48T>A (p.Val16=)
c.477T>A (p.Val159=)
18g.31089593A>CCA402113885DSC2c.47T>G (p.Val16Gly)
c.476T>G (p.Val159Gly)
18g.31089593A>GCA402113888DSC2c.47T>C (p.Val16Ala)
c.476T>C (p.Val159Ala)
18g.31089593A>TCA402113887DSC2c.47T>A (p.Val16Asp)
c.476T>A (p.Val159Asp)
18g.31089594C>ACA402113891DSC2c.46G>T (p.Val16Phe)
c.475G>T (p.Val159Phe)
 gnomAD v4
18g.31089594C>GCA402113894DSC2c.46G>C (p.Val16Leu)
c.475G>C (p.Val159Leu)
 COSMIC COSMIC
18g.31089594C>TCA402113892DSC2c.46G>A (p.Val16Ile)
c.475G>A (p.Val159Ile)
18g.31089595C>ACA402113895DSC2c.46-1G>T (n.46-1G>T)
c.475-1G>T (n.475-1G>T)
 dbSNP gnomAD v2
18g.31089595C=CA2293654985DSC2c.46-1G= (n.46-1G=)
c.475-1G= (n.475-1G=)
18g.31089595C>GCA402113897DSC2c.46-1G>C (n.46-1G>C)
c.475-1G>C (n.475-1G>C)
18g.31089595C>TCA402113899DSC2c.46-1G>A (n.46-1G>A)
c.475-1G>A (n.475-1G>A)
18g.31089596T>ACA402113901DSC2c.46-2A>T (n.46-2A>T)
c.475-2A>T (n.475-2A>T)
18g.31089596T>CCA402113903DSC2c.46-2A>G (n.46-2A>G)
c.475-2A>G (n.475-2A>G)
18g.31089596T>GCA402113905DSC2c.46-2A>C (n.46-2A>C)
c.475-2A>C (n.475-2A>C)
 ClinVar
18g.31089596_31089598delinsTAGCA2293654986DSC2c.46-4_46-2delinsCTA (n.46-4_46-2delinsCTA)
c.475-4_475-2delinsCTA (n.475-4_475-2delinsCTA)
18g.31089597A=CA2293654987DSC2c.46-3T= (n.46-3T=)
c.475-3T= (n.475-3T=)
18g.31089597A>GCA913189072DSC2c.46-3T>C (n.46-3T>C)
c.475-3T>C (n.475-3T>C)
 ClinVar dbSNP gnomAD v4
18g.31089598_31089599delCA988890033DSC2c.46-4_46-3del (n.46-4_46-3del)
c.475-4_475-3del (n.475-4_475-3del)
 dbSNP gnomAD v3 gnomAD v4
18g.31089598G>ACA629136658DSC2c.46-4C>T (n.46-4C>T)
c.475-4C>T (n.475-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089598G>CCA2641389098DSC2c.46-4C>G (n.46-4C>G)
c.475-4C>G (n.475-4C>G)
 gnomAD v4
18g.31089598G=CA2293654988DSC2c.46-4C= (n.46-4C=)
c.475-4C= (n.475-4C=)
18g.31089599A=CA2293654989DSC2c.46-5T= (n.46-5T=)
c.475-5T= (n.475-5T=)
18g.31089599A>GCA658799016DSC2c.46-5T>C (n.46-5T>C)
c.475-5T>C (n.475-5T>C)
 ClinVar dbSNP
18g.31089602G>ACA2293654991DSC2c.46-8C>T (n.46-8C>T)
c.475-8C>T (n.475-8C>T)
 dbSNP
18g.31089602G=CA2293654990DSC2c.46-8C= (n.46-8C=)
c.475-8C= (n.475-8C=)
18g.31089603T>CCA629136659DSC2c.46-9A>G (n.46-9A>G)
c.475-9A>G (n.475-9A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089603T=CA2293654992DSC2c.46-9A= (n.46-9A=)
c.475-9A= (n.475-9A=)
18g.31089606A=CA2293654993DSC2c.46-12T= (n.46-12T=)
c.475-12T= (n.475-12T=)
18g.31089606A>GCA2293654994DSC2c.46-12T>C (n.46-12T>C)
c.475-12T>C (n.475-12T>C)
 dbSNP
18g.31089607T>CCA038550DSC2c.46-13A>G (n.46-13A>G)
c.475-13A>G (n.475-13A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089607T>GCA629136660DSC2c.46-13A>C (n.46-13A>C)
c.475-13A>C (n.475-13A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089607T=CA2293654995DSC2c.46-13A= (n.46-13A=)
c.475-13A= (n.475-13A=)
18g.31089609T>CCA2641389100DSC2c.46-15A>G (n.46-15A>G)
c.475-15A>G (n.475-15A>G)
 ClinVar gnomAD v4
18g.31089610T>CCA2576478880DSC2c.46-16A>G (n.46-16A>G)
c.475-16A>G (n.475-16A>G)
18g.31089612T>CCA778399878DSC2c.46-18A>G (n.46-18A>G)
c.475-18A>G (n.475-18A>G)
 dbSNP gnomAD v4
18g.31089612T>GCA038556DSC2c.46-18A>C (n.46-18A>C)
c.475-18A>C (n.475-18A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089612T=CA2293654996DSC2c.46-18A= (n.46-18A=)
c.475-18A= (n.475-18A=)
18g.31089615A>GCA656943938DSC2c.46-21T>C (n.46-21T>C)
c.475-21T>C (n.475-21T>C)
 COSMIC
18g.31089616C>TCA2641389102DSC2c.46-22G>A (n.46-22G>A)
c.475-22G>A (n.475-22G>A)
 dbSNP gnomAD v4
18g.31089617A=CA2293654997DSC2c.46-23T= (n.46-23T=)
c.475-23T= (n.475-23T=)
18g.31089617A>GCA038570DSC2c.46-23T>C (n.46-23T>C)
c.475-23T>C (n.475-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089618T>CCA2641389104DSC2c.46-24A>G (n.46-24A>G)
c.475-24A>G (n.475-24A>G)
 gnomAD v4
18g.31089619G>ACA2641389105DSC2c.46-25C>T (n.46-25C>T)
c.475-25C>T (n.475-25C>T)
 gnomAD v4

Number of alleles fetched