Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496169C>ACA394374144TBC1D24c.21C>A (p.Asn7Lys)
n.203C>A
16g.2496169C>GCA394374146TBC1D24c.21C>G (p.Asn7Lys)
n.203C>G
16g.2496169C>TCA493160021TBC1D24c.21C>T (p.Asn7=)
n.203C>T
16g.2496170T>ACA394374150TBC1D24c.22T>A (p.Cys8Ser)
n.204T>A
16g.2496170T>CCA201584TBC1D24c.22T>C (p.Cys8Arg)
n.204T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496170T>GCA276809605TBC1D24c.22T>G (p.Cys8Gly)
n.204T>G
dbSNP
16g.2496170T=CA2202259662TBC1D24c.22T= (p.Cys8=)
n.204T=
16g.2496171G>ACA276809606TBC1D24c.23G>A (p.Cys8Tyr)
n.205G>A
dbSNP
16g.2496171G>CCA394374155TBC1D24c.23G>C (p.Cys8Ser)
n.205G>C
16g.2496171G=CA2202259663TBC1D24c.23G= (p.Cys8=)
n.205G=
16g.2496171G>TCA394374158TBC1D24c.23G>T (p.Cys8Phe)
n.205G>T
16g.2496172C>ACA394374159TBC1D24c.24C>A (p.Cys8Ter)
n.206C>A
16g.2496172C=CA2202259664TBC1D24c.24C= (p.Cys8=)
n.206C=
16g.2496172C>GCA394374161TBC1D24c.24C>G (p.Cys8Trp)
n.206C>G
ClinVar dbSNP
16g.2496172C>TCA493160045TBC1D24c.24C>T (p.Cys8=)
n.206C>T
16g.2496173T>ACA394374163TBC1D24c.25T>A (p.Phe9Ile)
n.207T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496173T>CCA394374165TBC1D24c.25T>C (p.Phe9Leu)
n.207T>C
16g.2496173T>GCA394374167TBC1D24c.25T>G (p.Phe9Val)
n.207T>G
16g.2496173T=CA2202259665TBC1D24c.25T= (p.Phe9=)
n.207T=
16g.2496174T>ACA394374169TBC1D24c.26T>A (p.Phe9Tyr)
n.208T>A
16g.2496174T>CCA394374172TBC1D24c.26T>C (p.Phe9Ser)
n.208T>C
16g.2496174T>GCA394374173TBC1D24c.26T>G (p.Phe9Cys)
n.208T>G
16g.2496175C>ACA394374175TBC1D24c.27C>A (p.Phe9Leu)
n.209C>A
16g.2496175C=CA2202259666TBC1D24c.27C= (p.Phe9=)
n.209C=
16g.2496175C>GCA394374177TBC1D24c.27C>G (p.Phe9Leu)
n.209C>G
16g.2496175C>TCA7843907TBC1D24c.27C>T (p.Phe9=)
n.209C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496176G>ACA7843908TBC1D24c.28G>A (p.Val10Met)
n.210G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496176G>CCA394374180TBC1D24c.28G>C (p.Val10Leu)
n.210G>C
16g.2496176G=CA2202259667TBC1D24c.28G= (p.Val10=)
n.210G=
16g.2496176G>TCA394374181TBC1D24c.28G>T (p.Val10Leu)
n.210G>T
16g.2496177T>ACA394374184TBC1D24c.29T>A (p.Val10Glu)
n.211T>A
16g.2496177T>CCA394374186TBC1D24c.29T>C (p.Val10Ala)
n.211T>C
16g.2496177T>GCA394374188TBC1D24c.29T>G (p.Val10Gly)
n.211T>G
16g.2496178G>ACA493160078TBC1D24c.30G>A (p.Val10=)
n.212G>A
dbSNP
16g.2496178G>CCA493160080TBC1D24c.30G>C (p.Val10=)
n.212G>C
16g.2496178G=CA2202259668TBC1D24c.30G= (p.Val10=)
n.212G=
16g.2496178G>TCA493160084TBC1D24c.30G>T (p.Val10=)
n.212G>T
16g.2496179G>ACA394374190TBC1D24c.31G>A (p.Asp11Asn)
n.213G>A
16g.2496179G>CCA394374192TBC1D24c.31G>C (p.Asp11His)
n.213G>C
16g.2496179G=CA2202259669TBC1D24c.31G= (p.Asp11=)
n.213G=
16g.2496179G>TCA394374193TBC1D24c.31G>T (p.Asp11Tyr)
n.213G>T
dbSNP
16g.2496180A>CCA394374195TBC1D24c.32A>C (p.Asp11Ala)
n.214A>C
16g.2496180A>GCA394374197TBC1D24c.32A>G (p.Asp11Gly)
n.214A>G
ClinVar gnomAD v4
16g.2496180A>TCA394374198TBC1D24c.32A>T (p.Asp11Val)
n.214A>T
16g.2496181C>ACA394374201TBC1D24c.33C>A (p.Asp11Glu)
n.215C>A
16g.2496181C>GCA394374202TBC1D24c.33C>G (p.Asp11Glu)
n.215C>G
16g.2496181C>TCA493160091TBC1D24c.33C>T (p.Asp11=)
n.215C>T
16g.2496182A>CCA394374207TBC1D24c.34A>C (p.Lys12Gln)
n.216A>C
16g.2496182A>GCA394374209TBC1D24c.34A>G (p.Lys12Glu)
n.216A>G
16g.2496182A>TCA394374205TBC1D24c.34A>T (p.Lys12Ter)
n.216A>T

Number of alleles fetched