Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496589_2496606delCA2631209959TBC1D24c.441_458del (p.Asp147_Phe152del)
n.623_640del
gnomAD v4
16g.2496587G>ACA7844000TBC1D24c.439G>A (p.Asp147Asn)
n.621G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496587G>CCA339785TBC1D24c.439G>C (p.Asp147His)
n.621G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496587G=CA2202259882TBC1D24c.439G= (p.Asp147=)
n.621G=
16g.2496587G>TCA394376002TBC1D24c.439G>T (p.Asp147Tyr)
n.621G>T
gnomAD v4
16g.2496588A=CA2202259883TBC1D24c.440A= (p.Asp147=)
n.622A=
16g.2496588A>CCA394376007TBC1D24c.440A>C (p.Asp147Ala)
n.622A>C
16g.2496588A>GCA7844001TBC1D24c.440A>G (p.Asp147Gly)
n.622A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496588A>TCA394376010TBC1D24c.440A>T (p.Asp147Val)
n.622A>T
16g.2496589C>ACA394376012TBC1D24c.441C>A (p.Asp147Glu)
n.623C>A
16g.2496589C=CA2202259884TBC1D24c.441C= (p.Asp147=)
n.623C=
16g.2496589C>GCA394376014TBC1D24c.441C>G (p.Asp147Glu)
n.623C>G
dbSNP gnomAD v4
16g.2496589C>TCA302805TBC1D24c.441C>T (p.Asp147=)
n.623C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496590G>ACA7844002TBC1D24c.442G>A (p.Glu148Lys)
n.624G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496590G>CCA394376018TBC1D24c.442G>C (p.Glu148Gln)
n.624G>C
16g.2496590G=CA2202259885TBC1D24c.442G= (p.Glu148=)
n.624G=
16g.2496590G>TCA7844003TBC1D24c.442G>T (p.Glu148Ter)
n.624G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496591A>CCA394376020TBC1D24c.443A>C (p.Glu148Ala)
n.625A>C
16g.2496591A>GCA394376023TBC1D24c.443A>G (p.Glu148Gly)
n.625A>G
16g.2496591A>TCA394376025TBC1D24c.443A>T (p.Glu148Val)
n.625A>T
16g.2496592G>ACA7844004TBC1D24c.444G>A (p.Glu148=)
n.626G>A
dbSNP ExAC gnomAD v2
16g.2496592G>CCA394376028TBC1D24c.444G>C (p.Glu148Asp)
n.626G>C
16g.2496592G=CA2202259886TBC1D24c.444G= (p.Glu148=)
n.626G=
16g.2496592G>TCA394376026TBC1D24c.444G>T (p.Glu148Asp)
n.626G>T
16g.2496593G>ACA394376031TBC1D24c.445G>A (p.Ala149Thr)
n.627G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496593G>CCA394376033TBC1D24c.445G>C (p.Ala149Pro)
n.627G>C
16g.2496593G=CA2202259887TBC1D24c.445G= (p.Ala149=)
n.627G=
16g.2496593G>TCA394376035TBC1D24c.445G>T (p.Ala149Ser)
n.627G>T
gnomAD v4
16g.2496594C>ACA394376036TBC1D24c.446C>A (p.Ala149Asp)
n.628C>A
dbSNP gnomAD v4
16g.2496594C=CA2202259888TBC1D24c.446C= (p.Ala149=)
n.628C=
16g.2496594C>GCA394376038TBC1D24c.446C>G (p.Ala149Gly)
n.628C>G
16g.2496594C>TCA394376039TBC1D24c.446C>T (p.Ala149Val)
n.628C>T
ClinVar dbSNP
16g.2496595C>ACA493366708TBC1D24c.447C>A (p.Ala149=)
n.629C>A
dbSNP
16g.2496595C=CA2202259889TBC1D24c.447C= (p.Ala149=)
n.629C=
16g.2496595C>GCA493366711TBC1D24c.447C>G (p.Ala149=)
n.629C>G
16g.2496595C>TCA7844005TBC1D24c.447C>T (p.Ala149=)
n.629C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496596G>ACA7844006TBC1D24c.448G>A (p.Glu150Lys)
n.630G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496596G>CCA394376043TBC1D24c.448G>C (p.Glu150Gln)
n.630G>C
gnomAD v4
16g.2496596G=CA2202259890TBC1D24c.448G= (p.Glu150=)
n.630G=
16g.2496596G>TCA394376045TBC1D24c.448G>T (p.Glu150Ter)
n.630G>T
16g.2496597A>CCA394376047TBC1D24c.449A>C (p.Glu150Ala)
n.631A>C
16g.2496597A>GCA394376048TBC1D24c.449A>G (p.Glu150Gly)
n.631A>G
16g.2496597A>TCA394376049TBC1D24c.449A>T (p.Glu150Val)
n.631A>T
16g.2496598G>ACA493366716TBC1D24c.450G>A (p.Glu150=)
n.632G>A
gnomAD v4
16g.2496598G>CCA394376051TBC1D24c.450G>C (p.Glu150Asp)
n.632G>C
16g.2496598G>TCA394376052TBC1D24c.450G>T (p.Glu150Asp)
n.632G>T
gnomAD v4
16g.2496599T>ACA394376055TBC1D24c.451T>A (p.Cys151Ser)
n.633T>A
16g.2496599T>CCA394376057TBC1D24c.451T>C (p.Cys151Arg)
n.633T>C
16g.2496599T>GCA394376056TBC1D24c.451T>G (p.Cys151Gly)
n.633T>G
16g.2496600G>ACA394376059TBC1D24c.452G>A (p.Cys151Tyr)
n.634G>A
gnomAD v4
16g.2496600G>CCA394376064TBC1D24c.452G>C (p.Cys151Ser)
n.634G>C
16g.2496600G=CA2202259891TBC1D24c.452G= (p.Cys151=)
n.634G=
16g.2496600G>TCA394376062TBC1D24c.452G>T (p.Cys151Phe)
n.634G>T
dbSNP
16g.2496601C>ACA394376067TBC1D24c.453C>A (p.Cys151Ter)
n.635C>A
16g.2496601C=CA2202259892TBC1D24c.453C= (p.Cys151=)
n.635C=
16g.2496601C>GCA394376068TBC1D24c.453C>G (p.Cys151Trp)
n.635C>G
16g.2496601C>TCA493366720TBC1D24c.453C>T (p.Cys151=)
n.635C>T
dbSNP gnomAD v3 gnomAD v4
16g.2496602T>ACA394376071TBC1D24c.454T>A (p.Phe152Ile)
n.636T>A
16g.2496602T>CCA394376073TBC1D24c.454T>C (p.Phe152Leu)
n.636T>C
16g.2496602T>GCA394376074TBC1D24c.454T>G (p.Phe152Val)
n.636T>G
16g.2496603T>ACA394376077TBC1D24c.455T>A (p.Phe152Tyr)
n.637T>A
gnomAD v4
16g.2496603T>CCA394376079TBC1D24c.455T>C (p.Phe152Ser)
n.637T>C
ClinVar
16g.2496603T>GCA394376081TBC1D24c.455T>G (p.Phe152Cys)
n.637T>G
16g.2496604C>ACA394376083TBC1D24c.456C>A (p.Phe152Leu)
n.638C>A
16g.2496604C=CA2202259893TBC1D24c.456C= (p.Phe152=)
n.638C=
16g.2496604C>GCA394376085TBC1D24c.456C>G (p.Phe152Leu)
n.638C>G
16g.2496604C>TCA493366724TBC1D24c.456C>T (p.Phe152=)
n.638C>T
ClinVar dbSNP gnomAD v4
16g.2496605G>ACA319022TBC1D24c.457G>A (p.Glu153Lys)
n.639G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496605G>CCA394376088TBC1D24c.457G>C (p.Glu153Gln)
n.639G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496605G=CA2202259894TBC1D24c.457G= (p.Glu153=)
n.639G=
16g.2496605G>TCA394376089TBC1D24c.457G>T (p.Glu153Ter)
n.639G>T
dbSNP gnomAD v2 gnomAD v4
16g.2496606A=CA2202259895TBC1D24c.458A= (p.Glu153=)
n.640A=
16g.2496606A>CCA394376094TBC1D24c.458A>C (p.Glu153Ala)
n.640A>C
ClinVar dbSNP
16g.2496606A>GCA394376092TBC1D24c.458A>G (p.Glu153Gly)
n.640A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496606A>TCA394376091TBC1D24c.458A>T (p.Glu153Val)
n.640A>T
16g.2496607G>ACA493366727TBC1D24c.459G>A (p.Glu153=)
n.641G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496607G>CCA394376096TBC1D24c.459G>C (p.Glu153Asp)
n.641G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496607G=CA2202259896TBC1D24c.459G= (p.Glu153=)
n.641G=
16g.2496607G>TCA394376097TBC1D24c.459G>T (p.Glu153Asp)
n.641G>T
gnomAD v4
16g.2496608A>CCA394376099TBC1D24c.460A>C (p.Lys154Gln)
n.642A>C
16g.2496608A>GCA394376100TBC1D24c.460A>G (p.Lys154Glu)
n.642A>G
16g.2496608A>TCA394376101TBC1D24c.460A>T (p.Lys154Ter)
n.642A>T
16g.2496609A>CCA394376103TBC1D24c.461A>C (p.Lys154Thr)
n.643A>C
16g.2496609A>GCA394376104TBC1D24c.461A>G (p.Lys154Arg)
n.643A>G
ClinVar
16g.2496609A>TCA394376105TBC1D24c.461A>T (p.Lys154Met)
n.643A>T
gnomAD v4
16g.2496609_2496624delinsAGGCCTGCCGCATCCTCA2202259897TBC1D24c.461_476delinsAGGCCTGCCGCATCCT (p.Lys154=)
n.643_658delinsAGGCCTGCCGCATCCT
16g.2496610G>ACA493366731TBC1D24c.462G>A (p.Lys154=)
n.644G>A
16g.2496610G>CCA394376107TBC1D24c.462G>C (p.Lys154Asn)
n.644G>C
16g.2496610G=CA2202259898TBC1D24c.462G= (p.Lys154=)
n.644G=
16g.2496610G>TCA394376109TBC1D24c.462G>T (p.Lys154Asn)
n.644G>T
dbSNP gnomAD v2 gnomAD v4
16g.2496617_2496631delCA620709060TBC1D24c.469_483del (p.Arg157_Cys161del)
n.651_665del
dbSNP gnomAD v2
16g.2496611G>ACA394376111TBC1D24c.463G>A (p.Ala155Thr)
n.645G>A
16g.2496611G>CCA394376112TBC1D24c.463G>C (p.Ala155Pro)
n.645G>C
16g.2496611G>TCA394376114TBC1D24c.463G>T (p.Ala155Ser)
n.645G>T
gnomAD v4
16g.2496612C>ACA394376118TBC1D24c.464C>A (p.Ala155Asp)
n.646C>A
16g.2496612C=CA2202259899TBC1D24c.464C= (p.Ala155=)
n.646C=
16g.2496612C>GCA394376119TBC1D24c.464C>G (p.Ala155Gly)
n.646C>G
ClinVar
16g.2496612C>TCA394376116TBC1D24c.464C>T (p.Ala155Val)
n.646C>T
dbSNP gnomAD v2 COSMIC
16g.2496613C>ACA493366736TBC1D24c.465C>A (p.Ala155=)
n.647C>A
16g.2496613C=CA2202259900TBC1D24c.465C= (p.Ala155=)
n.647C=
16g.2496613C>GCA493366737TBC1D24c.465C>G (p.Ala155=)
n.647C>G
gnomAD v4
16g.2496613C>TCA493366738TBC1D24c.465C>T (p.Ala155=)
n.647C>T
ClinVar dbSNP
16g.2496614T>ACA394376120TBC1D24c.466T>A (p.Cys156Ser)
n.648T>A
16g.2496614T>CCA394376122TBC1D24c.466T>C (p.Cys156Arg)
n.648T>C
16g.2496614T>GCA394376124TBC1D24c.466T>G (p.Cys156Gly)
n.648T>G
16g.2496615G>ACA394376126TBC1D24c.467G>A (p.Cys156Tyr)
n.649G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496615G>CCA394376128TBC1D24c.467G>C (p.Cys156Ser)
n.649G>C
gnomAD v4
16g.2496615G=CA2202259901TBC1D24c.467G= (p.Cys156=)
n.649G=
16g.2496615G>TCA394376130TBC1D24c.467G>T (p.Cys156Phe)
n.649G>T
gnomAD v4
16g.2496616C>ACA344790TBC1D24c.468C>A (p.Cys156Ter)
n.650C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496616C=CA2202259902TBC1D24c.468C= (p.Cys156=)
n.650C=
16g.2496616C>GCA394376132TBC1D24c.468C>G (p.Cys156Trp)
n.650C>G
16g.2496616C>TCA493366741TBC1D24c.468C>T (p.Cys156=)
n.650C>T
gnomAD v4
16g.2496617C>ACA394376135TBC1D24c.469C>A (p.Arg157Ser)
n.651C>A
16g.2496617C=CA2202259903TBC1D24c.469C= (p.Arg157=)
n.651C=
16g.2496617C>GCA394376137TBC1D24c.469C>G (p.Arg157Gly)
n.651C>G
16g.2496617C>TCA276809626TBC1D24c.469C>T (p.Arg157Cys)
n.651C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496618G>ACA394376144TBC1D24c.470G>A (p.Arg157His)
n.652G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496618G>CCA394376142TBC1D24c.470G>C (p.Arg157Pro)
n.652G>C
16g.2496618G=CA2202259904TBC1D24c.470G= (p.Arg157=)
n.652G=
16g.2496618G>TCA394376141TBC1D24c.470G>T (p.Arg157Leu)
n.652G>T
gnomAD v4
16g.2496619C>ACA493366744TBC1D24c.471C>A (p.Arg157=)
n.653C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496619C=CA2202259905TBC1D24c.471C= (p.Arg157=)
n.653C=
16g.2496619C>GCA493366745TBC1D24c.471C>G (p.Arg157=)
n.653C>G
16g.2496619C>TCA493366746TBC1D24c.471C>T (p.Arg157=)
n.653C>T
16g.2496620A=CA2202259906TBC1D24c.472A= (p.Ile158=)
n.654A=
16g.2496620A>CCA394376147TBC1D24c.472A>C (p.Ile158Leu)
n.654A>C
16g.2496620A>GCA394376149TBC1D24c.472A>G (p.Ile158Val)
n.654A>G
dbSNP gnomAD v4
16g.2496620A>TCA394376151TBC1D24c.472A>T (p.Ile158Phe)
n.654A>T
16g.2496621T>ACA394376153TBC1D24c.473T>A (p.Ile158Asn)
n.655T>A
16g.2496621T>CCA394376155TBC1D24c.473T>C (p.Ile158Thr)
n.655T>C
16g.2496621T>GCA394376156TBC1D24c.473T>G (p.Ile158Ser)
n.655T>G
16g.2496621_2496622delinsTCCA2202259907TBC1D24c.473_474delinsTC (p.Ile158=)
n.655_656delinsTC
16g.2496622C>ACA493366750TBC1D24c.474C>A (p.Ile158=)
n.656C>A
dbSNP
16g.2496622C=CA2202259908TBC1D24c.474C= (p.Ile158=)
n.656C=
16g.2496622C>GCA394376160TBC1D24c.474C>G (p.Ile158Met)
n.656C>G
16g.2496622C>TCA493366754TBC1D24c.474C>T (p.Ile158=)
n.656C>T
COSMIC
16g.2496623delCA319047TBC1D24c.475del (p.Leu159TrpfsTer10)
n.657del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496623C>ACA394376165TBC1D24c.475C>A (p.Leu159Met)
n.657C>A
16g.2496623C>GCA394376167TBC1D24c.475C>G (p.Leu159Val)
n.657C>G
16g.2496623C>TCA493366755TBC1D24c.475C>T (p.Leu159=)
n.657C>T
16g.2496624T>ACA394376171TBC1D24c.476T>A (p.Leu159Gln)
n.658T>A
16g.2496624T>CCA053438TBC1D24c.476T>C (p.Leu159Pro)
n.658T>C
ClinVar dbSNP gnomAD v4
16g.2496624T>GCA394376169TBC1D24c.476T>G (p.Leu159Arg)
n.658T>G
16g.2496624T=CA2202259909TBC1D24c.476T= (p.Leu159=)
n.658T=
16g.2496625G>ACA493366759TBC1D24c.477G>A (p.Leu159=)
n.659G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496625G>CCA7844007TBC1D24c.477G>C (p.Leu159=)
n.659G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496625G=CA2202259910TBC1D24c.477G= (p.Leu159=)
n.659G=
16g.2496625G>TCA493366757TBC1D24c.477G>T (p.Leu159=)
n.659G>T
gnomAD v4
16g.2496626G>ACA394376177TBC1D24c.478G>A (p.Ala160Thr)
n.660G>A
dbSNP gnomAD v4
16g.2496626G>CCA394376173TBC1D24c.478G>C (p.Ala160Pro)
n.660G>C
16g.2496626G=CA2202259911TBC1D24c.478G= (p.Ala160=)
n.660G=
16g.2496626G>TCA394376176TBC1D24c.478G>T (p.Ala160Ser)
n.660G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496627C>ACA394376179TBC1D24c.479C>A (p.Ala160Asp)
n.661C>A
16g.2496627C=CA2202259912TBC1D24c.479C= (p.Ala160=)
n.661C=
16g.2496627C>GCA394376181TBC1D24c.479C>G (p.Ala160Gly)
n.661C>G
16g.2496627C>TCA394376183TBC1D24c.479C>T (p.Ala160Val)
n.661C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496628C>ACA493366765TBC1D24c.480C>A (p.Ala160=)
n.662C>A
16g.2496628C>GCA493366766TBC1D24c.480C>G (p.Ala160=)
n.662C>G
16g.2496628C>TCA493366767TBC1D24c.480C>T (p.Ala160=)
n.662C>T
16g.2496629T>ACA394376186TBC1D24c.481T>A (p.Cys161Ser)
n.663T>A
16g.2496629T>CCA394376187TBC1D24c.481T>C (p.Cys161Arg)
n.663T>C
16g.2496629T>GCA394376189TBC1D24c.481T>G (p.Cys161Gly)
n.663T>G
16g.2496630G>ACA394376192TBC1D24c.482G>A (p.Cys161Tyr)
n.664G>A
gnomAD v4
16g.2496630G>CCA394376194TBC1D24c.482G>C (p.Cys161Ser)
n.664G>C
16g.2496630G=CA2202259913TBC1D24c.482G= (p.Cys161=)
n.664G=
16g.2496630G>TCA7844008TBC1D24c.482G>T (p.Cys161Phe)
n.664G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496631C>ACA7844009TBC1D24c.483C>A (p.Cys161Ter)
n.665C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496631C=CA2202259914TBC1D24c.483C= (p.Cys161=)
n.665C=
16g.2496631C>GCA394376198TBC1D24c.483C>G (p.Cys161Trp)
n.665C>G
16g.2496631C>TCA493366769TBC1D24c.483C>T (p.Cys161=)
n.665C>T
gnomAD v4 COSMIC
16g.2496632A>CCA394376201TBC1D24c.484A>C (p.Asn162His)
n.666A>C
16g.2496632A>GCA394376203TBC1D24c.484A>G (p.Asn162Asp)
n.666A>G
16g.2496632A>TCA394376202TBC1D24c.484A>T (p.Asn162Tyr)
n.666A>T
16g.2496633A=CA2202259915TBC1D24c.485A= (p.Asn162=)
n.667A=
16g.2496633A>CCA394376207TBC1D24c.485A>C (p.Asn162Thr)
n.667A>C
16g.2496633A>GCA7844010TBC1D24c.485A>G (p.Asn162Ser)
n.667A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496633A>TCA394376209TBC1D24c.485A>T (p.Asn162Ile)
n.667A>T
16g.2496634T>ACA10647225TBC1D24c.486T>A (p.Asn162Lys)
n.668T>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496634T>CCA493366773TBC1D24c.486T>C (p.Asn162=)
n.668T>C
16g.2496634T>GCA394376212TBC1D24c.486T>G (p.Asn162Lys)
n.668T>G
16g.2496634T=CA2202259916TBC1D24c.486T= (p.Asn162=)
n.668T=
16g.2496635G>ACA394376214TBC1D24c.487G>A (p.Asp163Asn)
n.669G>A
16g.2496635G>CCA394376216TBC1D24c.487G>C (p.Asp163His)
n.669G>C
16g.2496635G>TCA394376217TBC1D24c.487G>T (p.Asp163Tyr)
n.669G>T
ClinVar
16g.2496636A>CCA394376219TBC1D24c.488A>C (p.Asp163Ala)
n.670A>C
16g.2496636A>GCA394376221TBC1D24c.488A>G (p.Asp163Gly)
n.670A>G
COSMIC
16g.2496636A>TCA394376223TBC1D24c.488A>T (p.Asp163Val)
n.670A>T
16g.2496637C>ACA394376224TBC1D24c.489C>A (p.Asp163Glu)
n.671C>A
gnomAD v4
16g.2496637C>GCA394376225TBC1D24c.489C>G (p.Asp163Glu)
n.671C>G
16g.2496637C>TCA493366852TBC1D24c.489C>T (p.Asp163=)
n.671C>T
ClinVar
16g.2496638C>ACA394376229TBC1D24c.490C>A (p.Pro164Thr)
n.672C>A
16g.2496638C=CA2202259917TBC1D24c.490C= (p.Pro164=)
n.672C=
16g.2496638C>GCA394376230TBC1D24c.490C>G (p.Pro164Ala)
n.672C>G
16g.2496638C>TCA394376233TBC1D24c.490C>T (p.Pro164Ser)
n.672C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496639C>ACA394376235TBC1D24c.491C>A (p.Pro164His)
n.673C>A
16g.2496639C>GCA394376237TBC1D24c.491C>G (p.Pro164Arg)
n.673C>G
16g.2496639C>TCA394376238TBC1D24c.491C>T (p.Pro164Leu)
n.673C>T
gnomAD v4
16g.2496640C>ACA493366855TBC1D24c.492C>A (p.Pro164=)
n.674C>A
gnomAD v4
16g.2496640C=CA2202259918TBC1D24c.492C= (p.Pro164=)
n.674C=
16g.2496640C>GCA7844012TBC1D24c.492C>G (p.Pro164=)
n.674C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496640C>TCA7844011TBC1D24c.492C>T (p.Pro164=)
n.674C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496640_2496641delCA2544183399TBC1D24c.492_493del (p.Gly165GlnfsTer12)
n.674_675del
16g.2496641G>ACA318989TBC1D24c.493G>A (p.Gly165Ser)
n.675G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496641G>CCA394376243TBC1D24c.493G>C (p.Gly165Arg)
n.675G>C
gnomAD v4
16g.2496641G=CA2202259919TBC1D24c.493G= (p.Gly165=)
n.675G=
16g.2496641G>TCA394376245TBC1D24c.493G>T (p.Gly165Cys)
n.675G>T
ClinVar dbSNP gnomAD v4
16g.2496642G>ACA394376247TBC1D24c.494G>A (p.Gly165Asp)
n.676G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496642G>CCA394376248TBC1D24c.494G>C (p.Gly165Ala)
n.676G>C
16g.2496642G=CA2202259920TBC1D24c.494G= (p.Gly165=)
n.676G=
16g.2496642G>TCA394376250TBC1D24c.494G>T (p.Gly165Val)
n.676G>T
gnomAD v4
16g.2496642_2496643insTCCA2529358813TBC1D24c.494_495insTC (p.Arg166ProfsTer4)
n.676_677insTC
16g.2496643C>ACA493366859TBC1D24c.495C>A (p.Gly165=)
n.677C>A
gnomAD v4
16g.2496643C=CA2202259921TBC1D24c.495C= (p.Gly165=)
n.677C=
16g.2496643C>GCA7844013TBC1D24c.495C>G (p.Gly165=)
n.677C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496643C>TCA493366860TBC1D24c.495C>T (p.Gly165=)
n.677C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496644A>CCA493366861TBC1D24c.496A>C (p.Arg166=)
n.678A>C
16g.2496644A>GCA394376254TBC1D24c.496A>G (p.Arg166Gly)
n.678A>G
16g.2496644A>TCA394376256TBC1D24c.496A>T (p.Arg166Trp)
n.678A>T
16g.2496644dupCA2202259922TBC1D24c.496dup (p.Arg166LysfsTer12)
n.678dup
dbSNP
16g.2496645G>ACA394376259TBC1D24c.497G>A (p.Arg166Lys)
n.679G>A
16g.2496645G>CCA394376261TBC1D24c.497G>C (p.Arg166Thr)
n.679G>C
16g.2496645G>TCA394376263TBC1D24c.497G>T (p.Arg166Met)
n.679G>T
16g.2496646G>ACA276809627TBC1D24c.498G>A (p.Arg166=)
n.680G>A
dbSNP
16g.2496646G>CCA394376265TBC1D24c.498G>C (p.Arg166Ser)
n.680G>C
16g.2496646G=CA2202259923TBC1D24c.498G= (p.Arg166=)
n.680G=
16g.2496646G>TCA394376267TBC1D24c.498G>T (p.Arg166Ser)
n.680G>T
16g.2496647A=CA2202259924TBC1D24c.499A= (p.Arg167=)
n.681A=
16g.2496647A>CCA7844014TBC1D24c.499A>C (p.Arg167=)
n.681A>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496647A>GCA394376270TBC1D24c.499A>G (p.Arg167Gly)
n.681A>G
16g.2496647A>TCA394376272TBC1D24c.499A>T (p.Arg167Trp)
n.681A>T
dbSNP
16g.2496648G>ACA394376273TBC1D24c.500G>A (p.Arg167Lys)
n.682G>A
16g.2496648G>CCA394376274TBC1D24c.500G>C (p.Arg167Thr)
n.682G>C
dbSNP gnomAD v3 gnomAD v4
16g.2496648G=CA2202259925TBC1D24c.500G= (p.Arg167=)
n.682G=
16g.2496648G>TCA394376275TBC1D24c.500G>T (p.Arg167Met)
n.682G>T
16g.2496649G>ACA493366867TBC1D24c.501G>A (p.Arg167=)
n.683G>A
dbSNP gnomAD v2
16g.2496649G>CCA394376279TBC1D24c.501G>C (p.Arg167Ser)
n.683G>C
16g.2496649G=CA2202259926TBC1D24c.501G= (p.Arg167=)
n.683G=
16g.2496649G>TCA394376277TBC1D24c.501G>T (p.Arg167Ser)
n.683G>T
gnomAD v4
16g.2496650C>ACA394376281TBC1D24c.502C>A (p.Leu168Met)
n.684C>A
16g.2496650C>GCA394376283TBC1D24c.502C>G (p.Leu168Val)
n.684C>G
16g.2496650C>TCA493366869TBC1D24c.502C>T (p.Leu168=)
n.684C>T
16g.2496651T>ACA394376285TBC1D24c.503T>A (p.Leu168Gln)
n.685T>A
16g.2496651T>CCA7844015TBC1D24c.503T>C (p.Leu168Pro)
n.685T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496651T>GCA394376287TBC1D24c.503T>G (p.Leu168Arg)
n.685T>G
16g.2496651T=CA2202259927TBC1D24c.503T= (p.Leu168=)
n.685T=
16g.2496652G>ACA493366873TBC1D24c.504G>A (p.Leu168=)
n.686G>A
16g.2496652G>CCA493366876TBC1D24c.504G>C (p.Leu168=)
n.686G>C
16g.2496652G>TCA493366878TBC1D24c.504G>T (p.Leu168=)
n.686G>T
gnomAD v4
16g.2496653A=CA2202259928TBC1D24c.505A= (p.Ile169=)
n.687A=
16g.2496653A>CCA394376292TBC1D24c.505A>C (p.Ile169Leu)
n.687A>C
16g.2496653A>GCA394376294TBC1D24c.505A>G (p.Ile169Val)
n.687A>G
COSMIC
16g.2496653A>TCA394376296TBC1D24c.505A>T (p.Ile169Phe)
n.687A>T
16g.2496654T>ACA394376297TBC1D24c.506T>A (p.Ile169Asn)
n.688T>A
16g.2496654T>CCA394376299TBC1D24c.506T>C (p.Ile169Thr)
n.688T>C
16g.2496654T>GCA394376302TBC1D24c.506T>G (p.Ile169Ser)
n.688T>G
16g.2496655_2496656insCTCCA2202259929TBC1D24c.507_508insCTC (p.Ile169_Asp170insLeu)
n.689_690insCTC
dbSNP
16g.2496655C>ACA493366884TBC1D24c.507C>A (p.Ile169=)
n.689C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496655C=CA2202259930TBC1D24c.507C= (p.Ile169=)
n.689C=
16g.2496655C>GCA7844016TBC1D24c.507C>G (p.Ile169Met)
n.689C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496655C>TCA493366886TBC1D24c.507C>T (p.Ile169=)
n.689C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496656G>ACA394376308TBC1D24c.508G>A (p.Asp170Asn)
n.690G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496656G>CCA394376311TBC1D24c.508G>C (p.Asp170His)
n.690G>C
gnomAD v4
16g.2496656G=CA2202259931TBC1D24c.508G= (p.Asp170=)
n.690G=
16g.2496656G>TCA394376312TBC1D24c.508G>T (p.Asp170Tyr)
n.690G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496657A>CCA394376317TBC1D24c.509A>C (p.Asp170Ala)
n.691A>C
16g.2496657A>GCA394376319TBC1D24c.509A>G (p.Asp170Gly)
n.691A>G
16g.2496657A>TCA394376320TBC1D24c.509A>T (p.Asp170Val)
n.691A>T
16g.2496658C>ACA394376322TBC1D24c.510C>A (p.Asp170Glu)
n.692C>A
16g.2496658C>GCA394376324TBC1D24c.510C>G (p.Asp170Glu)
n.692C>G
16g.2496658C>TCA493366893TBC1D24c.510C>T (p.Asp170=)
n.692C>T
gnomAD v4
16g.2496659C>ACA394376327TBC1D24c.511C>A (p.Gln171Lys)
n.693C>A
16g.2496659C>GCA394376328TBC1D24c.511C>G (p.Gln171Glu)
n.693C>G
gnomAD v4
16g.2496659C>TCA394376330TBC1D24c.511C>T (p.Gln171Ter)
n.693C>T
16g.2496660A>CCA394376333TBC1D24c.512A>C (p.Gln171Pro)
n.694A>C
16g.2496660A>GCA394376334TBC1D24c.512A>G (p.Gln171Arg)
n.694A>G
16g.2496660A>TCA394376337TBC1D24c.512A>T (p.Gln171Leu)
n.694A>T
16g.2496661G>ACA493366898TBC1D24c.513G>A (p.Gln171=)
n.695G>A
16g.2496661G>CCA394376339TBC1D24c.513G>C (p.Gln171His)
n.695G>C
16g.2496661G>TCA394376341TBC1D24c.513G>T (p.Gln171His)
n.695G>T
gnomAD v4
16g.2496662A>CCA394376343TBC1D24c.514A>C (p.Ser172Arg)
n.696A>C
16g.2496662A>GCA394376345TBC1D24c.514A>G (p.Ser172Gly)
n.696A>G
16g.2496662A>TCA394376348TBC1D24c.514A>T (p.Ser172Cys)
n.696A>T
16g.2496663G>ACA394376355TBC1D24c.515G>A (p.Ser172Asn)
n.697G>A
16g.2496663G>CCA394376353TBC1D24c.515G>C (p.Ser172Thr)
n.697G>C
16g.2496663G>TCA394376351TBC1D24c.515G>T (p.Ser172Ile)
n.697G>T
16g.2496664C>ACA394376357TBC1D24c.516C>A (p.Ser172Arg)
n.698C>A
16g.2496664C>GCA394376358TBC1D24c.516C>G (p.Ser172Arg)
n.698C>G
16g.2496664C>TCA493366907TBC1D24c.516C>T (p.Ser172=)
n.698C>T
16g.2496665T>ACA394376359TBC1D24c.517T>A (p.Phe173Ile)
n.699T>A
dbSNP
16g.2496665T>CCA394376360TBC1D24c.517T>C (p.Phe173Leu)
n.699T>C
16g.2496665T>GCA394376362TBC1D24c.517T>G (p.Phe173Val)
n.699T>G
16g.2496665T=CA2202259932TBC1D24c.517T= (p.Phe173=)
n.699T=
16g.2496666T>ACA394376364TBC1D24c.518T>A (p.Phe173Tyr)
n.700T>A
16g.2496666T>CCA394376365TBC1D24c.518T>C (p.Phe173Ser)
n.700T>C
16g.2496666T>GCA394376366TBC1D24c.518T>G (p.Phe173Cys)
n.700T>G
16g.2496667C>ACA394376370TBC1D24c.519C>A (p.Phe173Leu)
n.701C>A
16g.2496667C=CA2202259933TBC1D24c.519C= (p.Phe173=)
n.701C=
16g.2496667C>GCA394376372TBC1D24c.519C>G (p.Phe173Leu)
n.701C>G
16g.2496667C>TCA7844017TBC1D24c.519C>T (p.Phe173=)
n.701C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496668C>ACA394376377TBC1D24c.520C>A (p.Leu174Met)
n.702C>A
16g.2496668C>GCA394376378TBC1D24c.520C>G (p.Leu174Val)
n.702C>G
ClinVar
16g.2496668C>TCA493366914TBC1D24c.520C>T (p.Leu174=)
n.702C>T
16g.2496669T>ACA394376384TBC1D24c.521T>A (p.Leu174Gln)
n.703T>A
16g.2496669T>CCA394376380TBC1D24c.521T>C (p.Leu174Pro)
n.703T>C
gnomAD v4
16g.2496669T>GCA394376382TBC1D24c.521T>G (p.Leu174Arg)
n.703T>G
16g.2496670G>ACA493366916TBC1D24c.522G>A (p.Leu174=)
n.704G>A
dbSNP
16g.2496670G>CCA493366918TBC1D24c.522G>C (p.Leu174=)
n.704G>C
16g.2496670G=CA2202259934TBC1D24c.522G= (p.Leu174=)
n.704G=
16g.2496670G>TCA493366920TBC1D24c.522G>T (p.Leu174=)
n.704G>T
16g.2496671G>ACA394376386TBC1D24c.523G>A (p.Ala175Thr)
n.705G>A
gnomAD v4
16g.2496671G>CCA394376388TBC1D24c.523G>C (p.Ala175Pro)
n.705G>C
ClinVar dbSNP
16g.2496671G>TCA394376391TBC1D24c.523G>T (p.Ala175Ser)
n.705G>T
16g.2496672C>ACA394376393TBC1D24c.524C>A (p.Ala175Asp)
n.706C>A
ClinVar dbSNP gnomAD v4
16g.2496672C=CA2202259935TBC1D24c.524C= (p.Ala175=)
n.706C=
16g.2496672C>GCA394376395TBC1D24c.524C>G (p.Ala175Gly)
n.706C>G
ClinVar dbSNP
16g.2496672C>TCA394376397TBC1D24c.524C>T (p.Ala175Val)
n.706C>T
gnomAD v4
16g.2496673C>ACA493366927TBC1D24c.525C>A (p.Ala175=)
n.707C>A
16g.2496673C>GCA493366928TBC1D24c.525C>G (p.Ala175=)
n.707C>G
16g.2496673C>TCA493366930TBC1D24c.525C>T (p.Ala175=)
n.707C>T
16g.2496674T>ACA394376399TBC1D24c.526T>A (p.Phe176Ile)
n.708T>A
16g.2496674T>CCA394376401TBC1D24c.526T>C (p.Phe176Leu)
n.708T>C
16g.2496674T>GCA394376403TBC1D24c.526T>G (p.Phe176Val)
n.708T>G
16g.2496675T>ACA394376405TBC1D24c.527T>A (p.Phe176Tyr)
n.709T>A
16g.2496675T>CCA394376407TBC1D24c.527T>C (p.Phe176Ser)
n.709T>C
16g.2496675T>GCA394376408TBC1D24c.527T>G (p.Phe176Cys)
n.709T>G
16g.2496676T>ACA394376412TBC1D24c.528T>A (p.Phe176Leu)
n.710T>A
16g.2496676T>CCA493366936TBC1D24c.528T>C (p.Phe176=)
n.710T>C
gnomAD v4
16g.2496676T>GCA394376410TBC1D24c.528T>G (p.Phe176Leu)
n.710T>G
16g.2496677G>ACA394376414TBC1D24c.529G>A (p.Glu177Lys)
n.711G>A
16g.2496677G>CCA394376418TBC1D24c.529G>C (p.Glu177Gln)
n.711G>C
16g.2496677G>TCA394376416TBC1D24c.529G>T (p.Glu177Ter)
n.711G>T
gnomAD v4
16g.2496678A=CA2202259936TBC1D24c.530A= (p.Glu177=)
n.712A=
16g.2496678A>CCA394376419TBC1D24c.530A>C (p.Glu177Ala)
n.712A>C
gnomAD v4
16g.2496678A>GCA7844018TBC1D24c.530A>G (p.Glu177Gly)
n.712A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496678A>TCA394376421TBC1D24c.530A>T (p.Glu177Val)
n.712A>T
16g.2496679G>ACA493366940TBC1D24c.531G>A (p.Glu177=)
n.713G>A
16g.2496679G>CCA394376423TBC1D24c.531G>C (p.Glu177Asp)
n.713G>C
16g.2496679G>TCA394376425TBC1D24c.531G>T (p.Glu177Asp)
n.713G>T
16g.2496680T>ACA394376427TBC1D24c.532T>A (p.Ser178Thr)
n.714T>A
16g.2496680T>CCA394376429TBC1D24c.532T>C (p.Ser178Pro)
n.714T>C
16g.2496680T>GCA394376431TBC1D24c.532T>G (p.Ser178Ala)
n.714T>G
16g.2496681C>ACA394376433TBC1D24c.533C>A (p.Ser178Ter)
n.715C>A
gnomAD v4
16g.2496681C=CA2202259937TBC1D24c.533C= (p.Ser178=)
n.715C=
16g.2496681C>GCA394376435TBC1D24c.533C>G (p.Ser178Trp)
n.715C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496681C>TCA156356TBC1D24c.533C>T (p.Ser178Leu)
n.715C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496682G>ACA7844019TBC1D24c.534G>A (p.Ser178=)
n.716G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496682G>CCA493366950TBC1D24c.534G>C (p.Ser178=)
n.716G>C
16g.2496682G=CA2202259938TBC1D24c.534G= (p.Ser178=)
n.716G=
16g.2496682G>TCA493366951TBC1D24c.534G>T (p.Ser178=)
n.716G>T
16g.2496683T>ACA394376443TBC1D24c.535T>A (p.Ser179Thr)
n.717T>A
16g.2496683T>CCA394376442TBC1D24c.535T>C (p.Ser179Pro)
n.717T>C
16g.2496683T>GCA394376440TBC1D24c.535T>G (p.Ser179Ala)
n.717T>G
16g.2496683dupCA2573152002TBC1D24c.535dup (p.Ser179PhefsTer?)
n.717dup
ClinVar dbSNP
16g.2496684C>ACA394376445TBC1D24c.536C>A (p.Ser179Tyr)
n.718C>A
16g.2496684C>GCA394376447TBC1D24c.536C>G (p.Ser179Cys)
n.718C>G
16g.2496684C>TCA394376449TBC1D24c.536C>T (p.Ser179Phe)
n.718C>T
gnomAD v4
16g.2496685C>ACA493366957TBC1D24c.537C>A (p.Ser179=)
n.719C>A
16g.2496685C>GCA493366958TBC1D24c.537C>G (p.Ser179=)
n.719C>G
16g.2496685C>TCA493366959TBC1D24c.537C>T (p.Ser179=)
n.719C>T
16g.2496686T>ACA394376451TBC1D24c.538T>A (p.Cys180Ser)
n.720T>A
16g.2496686T>CCA394376453TBC1D24c.538T>C (p.Cys180Arg)
n.720T>C
ClinVar
16g.2496686T>GCA394376455TBC1D24c.538T>G (p.Cys180Gly)
n.720T>G
16g.2496686_2496687delinsTGCA2202259939TBC1D24c.538_539delinsTG (p.Cys180=)
n.720_721delinsTG
16g.2496687delCA7844020TBC1D24c.539del (p.Cys180SerfsTer2)
n.721del
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496687G>ACA394376458TBC1D24c.539G>A (p.Cys180Tyr)
n.721G>A
dbSNP gnomAD v2
16g.2496687G>CCA394376460TBC1D24c.539G>C (p.Cys180Ser)
n.721G>C
16g.2496687G=CA2202259940TBC1D24c.539G= (p.Cys180=)
n.721G=
16g.2496687G>TCA394376462TBC1D24c.539G>T (p.Cys180Phe)
n.721G>T

Number of alleles fetched