Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496169C>A | CA394374144 | TBC1D24 | c.21C>A (p.Asn7Lys) n.203C>A | |
16 | g.2496169C>G | CA394374146 | TBC1D24 | c.21C>G (p.Asn7Lys) n.203C>G | |
16 | g.2496169C>T | CA493160021 | TBC1D24 | c.21C>T (p.Asn7=) n.203C>T | |
16 | g.2496170T>A | CA394374150 | TBC1D24 | c.22T>A (p.Cys8Ser) n.204T>A | |
16 | g.2496170T>C | CA201584 | TBC1D24 | c.22T>C (p.Cys8Arg) n.204T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496170T>G | CA276809605 | TBC1D24 | c.22T>G (p.Cys8Gly) n.204T>G | dbSNP |
16 | g.2496170T= | CA2202259662 | TBC1D24 | c.22T= (p.Cys8=) n.204T= | |
16 | g.2496171G>A | CA276809606 | TBC1D24 | c.23G>A (p.Cys8Tyr) n.205G>A | dbSNP |
16 | g.2496171G>C | CA394374155 | TBC1D24 | c.23G>C (p.Cys8Ser) n.205G>C | |
16 | g.2496171G= | CA2202259663 | TBC1D24 | c.23G= (p.Cys8=) n.205G= | |
16 | g.2496171G>T | CA394374158 | TBC1D24 | c.23G>T (p.Cys8Phe) n.205G>T | |
16 | g.2496172C>A | CA394374159 | TBC1D24 | c.24C>A (p.Cys8Ter) n.206C>A | |
16 | g.2496172C= | CA2202259664 | TBC1D24 | c.24C= (p.Cys8=) n.206C= | |
16 | g.2496172C>G | CA394374161 | TBC1D24 | c.24C>G (p.Cys8Trp) n.206C>G | ClinVar dbSNP |
16 | g.2496172C>T | CA493160045 | TBC1D24 | c.24C>T (p.Cys8=) n.206C>T | |
16 | g.2496173T>A | CA394374163 | TBC1D24 | c.25T>A (p.Phe9Ile) n.207T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496173T>C | CA394374165 | TBC1D24 | c.25T>C (p.Phe9Leu) n.207T>C | |
16 | g.2496173T>G | CA394374167 | TBC1D24 | c.25T>G (p.Phe9Val) n.207T>G | |
16 | g.2496173T= | CA2202259665 | TBC1D24 | c.25T= (p.Phe9=) n.207T= | |
16 | g.2496174T>A | CA394374169 | TBC1D24 | c.26T>A (p.Phe9Tyr) n.208T>A | |
16 | g.2496174T>C | CA394374172 | TBC1D24 | c.26T>C (p.Phe9Ser) n.208T>C | |
16 | g.2496174T>G | CA394374173 | TBC1D24 | c.26T>G (p.Phe9Cys) n.208T>G | |
16 | g.2496175C>A | CA394374175 | TBC1D24 | c.27C>A (p.Phe9Leu) n.209C>A | |
16 | g.2496175C= | CA2202259666 | TBC1D24 | c.27C= (p.Phe9=) n.209C= | |
16 | g.2496175C>G | CA394374177 | TBC1D24 | c.27C>G (p.Phe9Leu) n.209C>G | |
16 | g.2496175C>T | CA7843907 | TBC1D24 | c.27C>T (p.Phe9=) n.209C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496176G>A | CA7843908 | TBC1D24 | c.28G>A (p.Val10Met) n.210G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2496176G>C | CA394374180 | TBC1D24 | c.28G>C (p.Val10Leu) n.210G>C | |
16 | g.2496176G= | CA2202259667 | TBC1D24 | c.28G= (p.Val10=) n.210G= | |
16 | g.2496176G>T | CA394374181 | TBC1D24 | c.28G>T (p.Val10Leu) n.210G>T | |
16 | g.2496177T>A | CA394374184 | TBC1D24 | c.29T>A (p.Val10Glu) n.211T>A | |
16 | g.2496177T>C | CA394374186 | TBC1D24 | c.29T>C (p.Val10Ala) n.211T>C | |
16 | g.2496177T>G | CA394374188 | TBC1D24 | c.29T>G (p.Val10Gly) n.211T>G | |
16 | g.2496178G>A | CA493160078 | TBC1D24 | c.30G>A (p.Val10=) n.212G>A | dbSNP |
16 | g.2496178G>C | CA493160080 | TBC1D24 | c.30G>C (p.Val10=) n.212G>C | |
16 | g.2496178G= | CA2202259668 | TBC1D24 | c.30G= (p.Val10=) n.212G= | |
16 | g.2496178G>T | CA493160084 | TBC1D24 | c.30G>T (p.Val10=) n.212G>T | |
16 | g.2496179G>A | CA394374190 | TBC1D24 | c.31G>A (p.Asp11Asn) n.213G>A | |
16 | g.2496179G>C | CA394374192 | TBC1D24 | c.31G>C (p.Asp11His) n.213G>C | |
16 | g.2496179G= | CA2202259669 | TBC1D24 | c.31G= (p.Asp11=) n.213G= | |
16 | g.2496179G>T | CA394374193 | TBC1D24 | c.31G>T (p.Asp11Tyr) n.213G>T | dbSNP |
16 | g.2496180A>C | CA394374195 | TBC1D24 | c.32A>C (p.Asp11Ala) n.214A>C | |
16 | g.2496180A>G | CA394374197 | TBC1D24 | c.32A>G (p.Asp11Gly) n.214A>G | ClinVar gnomAD v4 |
16 | g.2496180A>T | CA394374198 | TBC1D24 | c.32A>T (p.Asp11Val) n.214A>T | |
16 | g.2496181C>A | CA394374201 | TBC1D24 | c.33C>A (p.Asp11Glu) n.215C>A | |
16 | g.2496181C>G | CA394374202 | TBC1D24 | c.33C>G (p.Asp11Glu) n.215C>G | |
16 | g.2496181C>T | CA493160091 | TBC1D24 | c.33C>T (p.Asp11=) n.215C>T | |
16 | g.2496182A>C | CA394374207 | TBC1D24 | c.34A>C (p.Lys12Gln) n.216A>C | |
16 | g.2496182A>G | CA394374209 | TBC1D24 | c.34A>G (p.Lys12Glu) n.216A>G | |
16 | g.2496182A>T | CA394374205 | TBC1D24 | c.34A>T (p.Lys12Ter) n.216A>T |