Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496609_2496624delinsAGGCCTGCCGCATCCT | CA2202259897 | TBC1D24 | c.461_476delinsAGGCCTGCCGCATCCT (p.Lys154=) n.643_658delinsAGGCCTGCCGCATCCT | |
16 | g.2496617_2496631del | CA620709060 | TBC1D24 | c.469_483del (p.Arg157_Cys161del) n.651_665del | dbSNP gnomAD v2 |
16 | g.2496624T>A | CA394376171 | TBC1D24 | c.476T>A (p.Leu159Gln) n.658T>A | |
16 | g.2496624T>C | CA053438 | TBC1D24 | c.476T>C (p.Leu159Pro) n.658T>C | ClinVar dbSNP gnomAD v4 |
16 | g.2496624T>G | CA394376169 | TBC1D24 | c.476T>G (p.Leu159Arg) n.658T>G | |
16 | g.2496624T= | CA2202259909 | TBC1D24 | c.476T= (p.Leu159=) n.658T= | |
16 | g.2496625G>A | CA493366759 | TBC1D24 | c.477G>A (p.Leu159=) n.659G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496625G>C | CA7844007 | TBC1D24 | c.477G>C (p.Leu159=) n.659G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496625G= | CA2202259910 | TBC1D24 | c.477G= (p.Leu159=) n.659G= | |
16 | g.2496625G>T | CA493366757 | TBC1D24 | c.477G>T (p.Leu159=) n.659G>T | gnomAD v4 |
16 | g.2496626G>A | CA394376177 | TBC1D24 | c.478G>A (p.Ala160Thr) n.660G>A | dbSNP gnomAD v4 |
16 | g.2496626G>C | CA394376173 | TBC1D24 | c.478G>C (p.Ala160Pro) n.660G>C | |
16 | g.2496626G= | CA2202259911 | TBC1D24 | c.478G= (p.Ala160=) n.660G= | |
16 | g.2496626G>T | CA394376176 | TBC1D24 | c.478G>T (p.Ala160Ser) n.660G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496627C>A | CA394376179 | TBC1D24 | c.479C>A (p.Ala160Asp) n.661C>A | |
16 | g.2496627C= | CA2202259912 | TBC1D24 | c.479C= (p.Ala160=) n.661C= | |
16 | g.2496627C>G | CA394376181 | TBC1D24 | c.479C>G (p.Ala160Gly) n.661C>G | |
16 | g.2496627C>T | CA394376183 | TBC1D24 | c.479C>T (p.Ala160Val) n.661C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496628C>A | CA493366765 | TBC1D24 | c.480C>A (p.Ala160=) n.662C>A | |
16 | g.2496628C>G | CA493366766 | TBC1D24 | c.480C>G (p.Ala160=) n.662C>G | |
16 | g.2496628C>T | CA493366767 | TBC1D24 | c.480C>T (p.Ala160=) n.662C>T | |
16 | g.2496629T>A | CA394376186 | TBC1D24 | c.481T>A (p.Cys161Ser) n.663T>A | |
16 | g.2496629T>C | CA394376187 | TBC1D24 | c.481T>C (p.Cys161Arg) n.663T>C | |
16 | g.2496629T>G | CA394376189 | TBC1D24 | c.481T>G (p.Cys161Gly) n.663T>G | |
16 | g.2496630G>A | CA394376192 | TBC1D24 | c.482G>A (p.Cys161Tyr) n.664G>A | gnomAD v4 |
16 | g.2496630G>C | CA394376194 | TBC1D24 | c.482G>C (p.Cys161Ser) n.664G>C | |
16 | g.2496630G= | CA2202259913 | TBC1D24 | c.482G= (p.Cys161=) n.664G= | |
16 | g.2496630G>T | CA7844008 | TBC1D24 | c.482G>T (p.Cys161Phe) n.664G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496631C>A | CA7844009 | TBC1D24 | c.483C>A (p.Cys161Ter) n.665C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496631C= | CA2202259914 | TBC1D24 | c.483C= (p.Cys161=) n.665C= | |
16 | g.2496631C>G | CA394376198 | TBC1D24 | c.483C>G (p.Cys161Trp) n.665C>G | |
16 | g.2496631C>T | CA493366769 | TBC1D24 | c.483C>T (p.Cys161=) n.665C>T | gnomAD v4 COSMIC |
16 | g.2496632A>C | CA394376201 | TBC1D24 | c.484A>C (p.Asn162His) n.666A>C | |
16 | g.2496632A>G | CA394376203 | TBC1D24 | c.484A>G (p.Asn162Asp) n.666A>G | |
16 | g.2496632A>T | CA394376202 | TBC1D24 | c.484A>T (p.Asn162Tyr) n.666A>T | |
16 | g.2496633A= | CA2202259915 | TBC1D24 | c.485A= (p.Asn162=) n.667A= | |
16 | g.2496633A>C | CA394376207 | TBC1D24 | c.485A>C (p.Asn162Thr) n.667A>C | |
16 | g.2496633A>G | CA7844010 | TBC1D24 | c.485A>G (p.Asn162Ser) n.667A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496633A>T | CA394376209 | TBC1D24 | c.485A>T (p.Asn162Ile) n.667A>T | |
16 | g.2496634T>A | CA10647225 | TBC1D24 | c.486T>A (p.Asn162Lys) n.668T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496634T>C | CA493366773 | TBC1D24 | c.486T>C (p.Asn162=) n.668T>C | |
16 | g.2496634T>G | CA394376212 | TBC1D24 | c.486T>G (p.Asn162Lys) n.668T>G | |
16 | g.2496634T= | CA2202259916 | TBC1D24 | c.486T= (p.Asn162=) n.668T= | |
16 | g.2496635G>A | CA394376214 | TBC1D24 | c.487G>A (p.Asp163Asn) n.669G>A | |
16 | g.2496635G>C | CA394376216 | TBC1D24 | c.487G>C (p.Asp163His) n.669G>C | |
16 | g.2496635G>T | CA394376217 | TBC1D24 | c.487G>T (p.Asp163Tyr) n.669G>T | ClinVar |
16 | g.2496636A>C | CA394376219 | TBC1D24 | c.488A>C (p.Asp163Ala) n.670A>C | |
16 | g.2496636A>G | CA394376221 | TBC1D24 | c.488A>G (p.Asp163Gly) n.670A>G | COSMIC |
16 | g.2496636A>T | CA394376223 | TBC1D24 | c.488A>T (p.Asp163Val) n.670A>T | |
16 | g.2496637C>A | CA394376224 | TBC1D24 | c.489C>A (p.Asp163Glu) n.671C>A | gnomAD v4 |