Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.46725173A= | CA2366796065 | SLC2A10 | c.137A= (p.Glu46=) n.289A= c.200A= (p.Glu67=) c.146A= (p.Glu49=) n.336A= n.323A= | |
20 | g.46725173A>C | CA409266417 | SLC2A10 | c.137A>C (p.Glu46Ala) n.289A>C c.200A>C (p.Glu67Ala) c.146A>C (p.Glu49Ala) n.336A>C n.323A>C | |
20 | g.46725173A>G | CA9891920 | SLC2A10 | c.137A>G (p.Glu46Gly) n.289A>G c.200A>G (p.Glu67Gly) c.146A>G (p.Glu49Gly) n.336A>G n.323A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725173A>T | CA409266418 | SLC2A10 | c.137A>T (p.Glu46Val) n.289A>T c.200A>T (p.Glu67Val) c.146A>T (p.Glu49Val) n.336A>T n.323A>T | |
20 | g.46725174G>A | CA510847416 | SLC2A10 | c.138G>A (p.Glu46=) n.290G>A c.201G>A (p.Glu67=) c.147G>A (p.Glu49=) n.337G>A n.324G>A | gnomAD v4 |
20 | g.46725174G>C | CA409266419 | SLC2A10 | c.138G>C (p.Glu46Asp) n.290G>C c.201G>C (p.Glu67Asp) c.147G>C (p.Glu49Asp) n.337G>C n.324G>C | gnomAD v4 |
20 | g.46725174G>T | CA409266420 | SLC2A10 | c.138G>T (p.Glu46Asp) n.290G>T c.201G>T (p.Glu67Asp) c.147G>T (p.Glu49Asp) n.337G>T n.324G>T | |
20 | g.46725175C>A | CA409266421 | SLC2A10 | c.139C>A (p.Gln47Lys) n.291C>A c.202C>A (p.Gln68Lys) c.148C>A (p.Gln50Lys) n.338C>A n.325C>A | |
20 | g.46725175C>G | CA409266422 | SLC2A10 | c.139C>G (p.Gln47Glu) n.291C>G c.202C>G (p.Gln68Glu) c.148C>G (p.Gln50Glu) n.338C>G n.325C>G | |
20 | g.46725175C>T | CA409266423 | SLC2A10 | c.139C>T (p.Gln47Ter) n.291C>T c.202C>T (p.Gln68Ter) c.148C>T (p.Gln50Ter) n.338C>T n.325C>T | |
20 | g.46725176A>C | CA409266426 | SLC2A10 | c.140A>C (p.Gln47Pro) n.292A>C c.203A>C (p.Gln68Pro) c.149A>C (p.Gln50Pro) n.339A>C n.326A>C | |
20 | g.46725176A>G | CA409266424 | SLC2A10 | c.140A>G (p.Gln47Arg) n.292A>G c.203A>G (p.Gln68Arg) c.149A>G (p.Gln50Arg) n.339A>G n.326A>G | |
20 | g.46725176A>T | CA409266425 | SLC2A10 | c.140A>T (p.Gln47Leu) n.292A>T c.203A>T (p.Gln68Leu) c.149A>T (p.Gln50Leu) n.339A>T n.326A>T | |
20 | g.46725177G>A | CA315755159 | SLC2A10 | c.141G>A (p.Gln47=) n.293G>A c.204G>A (p.Gln68=) c.150G>A (p.Gln50=) n.340G>A n.327G>A | dbSNP gnomAD v4 |
20 | g.46725177G>C | CA409266427 | SLC2A10 | c.141G>C (p.Gln47His) n.293G>C c.204G>C (p.Gln68His) c.150G>C (p.Gln50His) n.340G>C n.327G>C | |
20 | g.46725177G= | CA2366796066 | SLC2A10 | c.141G= (p.Gln47=) n.293G= c.204G= (p.Gln68=) c.150G= (p.Gln50=) n.340G= n.327G= | |
20 | g.46725177G>T | CA409266428 | SLC2A10 | c.141G>T (p.Gln47His) n.293G>T c.204G>T (p.Gln68His) c.150G>T (p.Gln50His) n.340G>T n.327G>T | |
20 | g.46725178G>A | CA409266429 | SLC2A10 | c.142G>A (p.Glu48Lys) n.294G>A c.205G>A (p.Glu69Lys) c.151G>A (p.Glu51Lys) n.341G>A n.328G>A | |
20 | g.46725178G>C | CA409266430 | SLC2A10 | c.142G>C (p.Glu48Gln) n.294G>C c.205G>C (p.Glu69Gln) c.151G>C (p.Glu51Gln) n.341G>C n.328G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725178G= | CA2366796067 | SLC2A10 | c.142G= (p.Glu48=) n.294G= c.205G= (p.Glu69=) c.151G= (p.Glu51=) n.341G= n.328G= | |
20 | g.46725178G>T | CA409266431 | SLC2A10 | c.142G>T (p.Glu48Ter) n.294G>T c.205G>T (p.Glu69Ter) c.151G>T (p.Glu51Ter) n.341G>T n.328G>T | |
20 | g.46725179A>C | CA409266432 | SLC2A10 | c.143A>C (p.Glu48Ala) n.295A>C c.206A>C (p.Glu69Ala) c.152A>C (p.Glu51Ala) n.342A>C n.329A>C | |
20 | g.46725179A>G | CA409266433 | SLC2A10 | c.143A>G (p.Glu48Gly) n.295A>G c.206A>G (p.Glu69Gly) c.152A>G (p.Glu51Gly) n.342A>G n.329A>G | |
20 | g.46725179A>T | CA409266434 | SLC2A10 | c.143A>T (p.Glu48Val) n.295A>T c.206A>T (p.Glu69Val) c.152A>T (p.Glu51Val) n.342A>T n.329A>T | gnomAD v4 |
20 | g.46725180G>A | CA10587932 | SLC2A10 | c.144G>A (p.Glu48=) n.296G>A c.207G>A (p.Glu69=) c.153G>A (p.Glu51=) n.343G>A n.330G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725180G>C | CA409266435 | SLC2A10 | c.144G>C (p.Glu48Asp) n.296G>C c.207G>C (p.Glu69Asp) c.153G>C (p.Glu51Asp) n.343G>C n.330G>C | |
20 | g.46725180G= | CA2366796068 | SLC2A10 | c.144G= (p.Glu48=) n.296G= c.207G= (p.Glu69=) c.153G= (p.Glu51=) n.343G= n.330G= | |
20 | g.46725180G>T | CA315755165 | SLC2A10 | c.144G>T (p.Glu48Asp) n.296G>T c.207G>T (p.Glu69Asp) c.153G>T (p.Glu51Asp) n.343G>T n.330G>T | dbSNP gnomAD v4 |
20 | g.46725181T>A | CA323587 | SLC2A10 | c.145T>A (p.Phe49Ile) n.297T>A c.208T>A (p.Phe70Ile) c.154T>A (p.Phe52Ile) n.344T>A n.331T>A | ClinVar dbSNP |
20 | g.46725181T>C | CA409266437 | SLC2A10 | c.145T>C (p.Phe49Leu) n.297T>C c.208T>C (p.Phe70Leu) c.154T>C (p.Phe52Leu) n.344T>C n.331T>C | |
20 | g.46725181T>G | CA409266436 | SLC2A10 | c.145T>G (p.Phe49Val) n.297T>G c.208T>G (p.Phe70Val) c.154T>G (p.Phe52Val) n.344T>G n.331T>G | |
20 | g.46725181T= | CA2366796069 | SLC2A10 | c.145T= (p.Phe49=) n.297T= c.208T= (p.Phe70=) c.154T= (p.Phe52=) n.344T= n.331T= | |
20 | g.46725182T>A | CA409266438 | SLC2A10 | c.146T>A (p.Phe49Tyr) n.298T>A c.209T>A (p.Phe70Tyr) c.155T>A (p.Phe52Tyr) n.345T>A n.332T>A | |
20 | g.46725182T>C | CA409266439 | SLC2A10 | c.146T>C (p.Phe49Ser) n.298T>C c.209T>C (p.Phe70Ser) c.155T>C (p.Phe52Ser) n.345T>C n.332T>C | |
20 | g.46725182T>G | CA409266440 | SLC2A10 | c.146T>G (p.Phe49Cys) n.298T>G c.209T>G (p.Phe70Cys) c.155T>G (p.Phe52Cys) n.345T>G n.332T>G | |
20 | g.46725183C>A | CA409266441 | SLC2A10 | c.147C>A (p.Phe49Leu) n.299C>A c.210C>A (p.Phe70Leu) c.156C>A (p.Phe52Leu) n.346C>A n.333C>A | |
20 | g.46725183C= | CA2366796070 | SLC2A10 | c.147C= (p.Phe49=) n.299C= c.210C= (p.Phe70=) c.156C= (p.Phe52=) n.346C= n.333C= | |
20 | g.46725183C>G | CA409266442 | SLC2A10 | c.147C>G (p.Phe49Leu) n.299C>G c.210C>G (p.Phe70Leu) c.156C>G (p.Phe52Leu) n.346C>G n.333C>G | ClinVar dbSNP |
20 | g.46725183C>T | CA510847417 | SLC2A10 | c.147C>T (p.Phe49=) n.299C>T c.210C>T (p.Phe70=) c.156C>T (p.Phe52=) n.346C>T n.333C>T | COSMIC |
20 | g.46725184C>A | CA409266443 | SLC2A10 | c.148C>A (p.Leu50Met) n.300C>A c.211C>A (p.Leu71Met) c.157C>A (p.Leu53Met) n.347C>A n.334C>A | |
20 | g.46725184C>G | CA409266444 | SLC2A10 | c.148C>G (p.Leu50Val) n.300C>G c.211C>G (p.Leu71Val) c.157C>G (p.Leu53Val) n.347C>G n.334C>G | |
20 | g.46725184C>T | CA510847418 | SLC2A10 | c.148C>T (p.Leu50=) n.300C>T c.211C>T (p.Leu71=) c.157C>T (p.Leu53=) n.347C>T n.334C>T | gnomAD v4 |
20 | g.46725185T>A | CA409266445 | SLC2A10 | c.149T>A (p.Leu50Gln) n.301T>A c.212T>A (p.Leu71Gln) c.158T>A (p.Leu53Gln) n.348T>A n.335T>A | |
20 | g.46725185T>C | CA409266446 | SLC2A10 | c.149T>C (p.Leu50Pro) n.301T>C c.212T>C (p.Leu71Pro) c.158T>C (p.Leu53Pro) n.348T>C n.335T>C | dbSNP |
20 | g.46725185T>G | CA409266447 | SLC2A10 | c.149T>G (p.Leu50Arg) n.301T>G c.212T>G (p.Leu71Arg) c.158T>G (p.Leu53Arg) n.348T>G n.335T>G | |
20 | g.46725186G>A | CA510847419 | SLC2A10 | c.150G>A (p.Leu50=) n.302G>A c.213G>A (p.Leu71=) c.159G>A (p.Leu53=) n.349G>A n.336G>A | |
20 | g.46725186G>C | CA510847421 | SLC2A10 | c.150G>C (p.Leu50=) n.302G>C c.213G>C (p.Leu71=) c.159G>C (p.Leu53=) n.349G>C n.336G>C | |
20 | g.46725186G>T | CA510847420 | SLC2A10 | c.150G>T (p.Leu50=) n.302G>T c.213G>T (p.Leu71=) c.159G>T (p.Leu53=) n.349G>T n.336G>T | |
20 | g.46725187G>A | CA409266450 | SLC2A10 | c.151G>A (p.Val51Met) n.303G>A c.214G>A (p.Val72Met) c.160G>A (p.Val54Met) n.350G>A n.337G>A | |
20 | g.46725187G>C | CA409266449 | SLC2A10 | c.151G>C (p.Val51Leu) n.303G>C c.214G>C (p.Val72Leu) c.160G>C (p.Val54Leu) n.350G>C n.337G>C |