Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496609_2496624delinsAGGCCTGCCGCATCCTCA2202259897TBC1D24c.461_476delinsAGGCCTGCCGCATCCT (p.Lys154=)
n.643_658delinsAGGCCTGCCGCATCCT
16g.2496617_2496631delCA620709060TBC1D24c.469_483del (p.Arg157_Cys161del)
n.651_665del
dbSNP gnomAD v2
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

Number of alleles fetched