Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.100912217C>A | CA341171215 | SLC30A7 | c.490C>A (p.His164Asn) c.280C>A (p.His94Asn) n.675C>A n.661C>A | |
1 | g.100912217C= | CA1184348256 | SLC30A7 | c.490C= (p.His164=) c.280C= (p.His94=) n.675C= n.661C= | |
1 | g.100912217C>G | CA341171217 | SLC30A7 | c.490C>G (p.His164Asp) c.280C>G (p.His94Asp) n.675C>G n.661C>G | |
1 | g.100912217C>T | CA341171223 | SLC30A7 | c.490C>T (p.His164Tyr) c.280C>T (p.His94Tyr) n.675C>T n.661C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.100912217_100912218delinsAG | CA16044212 | SLC30A7 | c.490_491delinsAG (p.His164Ser) c.280_281delinsAG (p.His94Ser) n.675_676delinsAG n.661_662delinsAG | ClinVar dbSNP |
1 | g.100912217_100912218delinsCA | CA1184348257 | SLC30A7 | c.490_491delinsCA (p.His164=) c.280_281delinsCA (p.His94=) n.675_676delinsCA n.661_662delinsCA | |
1 | g.100912218A= | CA1184348263 | SLC30A7 | c.491A= (p.His164=) c.281A= (p.His94=) n.676A= n.662A= | |
1 | g.100912218A>C | CA341171244 | SLC30A7 | c.491A>C (p.His164Pro) c.281A>C (p.His94Pro) n.676A>C n.662A>C | |
1 | g.100912218A>G | CA341171239 | SLC30A7 | c.491A>G (p.His164Arg) c.281A>G (p.His94Arg) n.676A>G n.662A>G | |
1 | g.100912218A>T | CA27686112 | SLC30A7 | c.491A>T (p.His164Leu) c.281A>T (p.His94Leu) n.676A>T n.662A>T | dbSNP |
1 | g.100912219T>A | CA341171249 | SLC30A7 | c.492T>A (p.His164Gln) c.282T>A (p.His94Gln) n.677T>A n.663T>A | |
1 | g.100912219T>C | CA419203488 | SLC30A7 | c.492T>C (p.His164=) c.282T>C (p.His94=) n.677T>C n.663T>C | |
1 | g.100912219T>G | CA341171251 | SLC30A7 | c.492T>G (p.His164Gln) c.282T>G (p.His94Gln) n.677T>G n.663T>G | |
1 | g.100912220G>A | CA341171260 | SLC30A7 | c.493G>A (p.Gly165Arg) c.283G>A (p.Gly95Arg) n.678G>A n.664G>A | gnomAD v4 |
1 | g.100912220G>C | CA341171272 | SLC30A7 | c.493G>C (p.Gly165Arg) c.283G>C (p.Gly95Arg) n.678G>C n.664G>C | |
1 | g.100912220G>T | CA341171276 | SLC30A7 | c.493G>T (p.Gly165Ter) c.283G>T (p.Gly95Ter) n.678G>T n.664G>T | |
1 | g.100912221G>A | CA341171277 | SLC30A7 | c.494G>A (p.Gly165Glu) c.284G>A (p.Gly95Glu) n.679G>A n.665G>A | |
1 | g.100912221G>C | CA341171278 | SLC30A7 | c.494G>C (p.Gly165Ala) c.284G>C (p.Gly95Ala) n.679G>C n.665G>C | gnomAD v4 |
1 | g.100912221G>T | CA341171279 | SLC30A7 | c.494G>T (p.Gly165Val) c.284G>T (p.Gly95Val) n.679G>T n.665G>T | |
1 | g.100912222A>C | CA419203509 | SLC30A7 | c.495A>C (p.Gly165=) c.285A>C (p.Gly95=) n.680A>C n.666A>C | |
1 | g.100912222A>G | CA419203510 | SLC30A7 | c.495A>G (p.Gly165=) c.285A>G (p.Gly95=) n.680A>G n.666A>G | gnomAD v4 |
1 | g.100912222A>T | CA419203511 | SLC30A7 | c.495A>T (p.Gly165=) c.285A>T (p.Gly95=) n.680A>T n.666A>T | |
1 | g.100912223C>A | CA341171284 | SLC30A7 | c.496C>A (p.His166Asn) c.286C>A (p.His96Asn) n.681C>A n.667C>A | |
1 | g.100912223C= | CA1184348268 | SLC30A7 | c.496C= (p.His166=) c.286C= (p.His96=) n.681C= n.667C= | |
1 | g.100912223C>G | CA341171285 | SLC30A7 | c.496C>G (p.His166Asp) c.286C>G (p.His96Asp) n.681C>G n.667C>G | |
1 | g.100912223C>T | CA341171287 | SLC30A7 | c.496C>T (p.His166Tyr) c.286C>T (p.His96Tyr) n.681C>T n.667C>T | dbSNP gnomAD v4 COSMIC |
1 | g.100912224A= | CA1184348271 | SLC30A7 | c.497A= (p.His166=) c.287A= (p.His96=) n.682A= n.668A= | |
1 | g.100912224A>C | CA341171289 | SLC30A7 | c.497A>C (p.His166Pro) c.287A>C (p.His96Pro) n.682A>C n.668A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.100912224A>G | CA341171290 | SLC30A7 | c.497A>G (p.His166Arg) c.287A>G (p.His96Arg) n.682A>G n.668A>G | gnomAD v4 |
1 | g.100912224A>T | CA341171292 | SLC30A7 | c.497A>T (p.His166Leu) c.287A>T (p.His96Leu) n.682A>T n.668A>T | |
1 | g.100912225T>A | CA341171297 | SLC30A7 | c.498T>A (p.His166Gln) c.288T>A (p.His96Gln) n.683T>A n.669T>A | |
1 | g.100912225T>C | CA419203517 | SLC30A7 | c.498T>C (p.His166=) c.288T>C (p.His96=) n.683T>C n.669T>C | |
1 | g.100912225T>G | CA341171298 | SLC30A7 | c.498T>G (p.His166Gln) c.288T>G (p.His96Gln) n.683T>G n.669T>G | |
1 | g.100912226T>A | CA341171300 | SLC30A7 | c.499T>A (p.Ser167Thr) c.289T>A (p.Ser97Thr) n.684T>A n.670T>A | |
1 | g.100912226T>C | CA341171304 | SLC30A7 | c.499T>C (p.Ser167Pro) c.289T>C (p.Ser97Pro) n.684T>C n.670T>C | |
1 | g.100912226T>G | CA341171313 | SLC30A7 | c.499T>G (p.Ser167Ala) c.289T>G (p.Ser97Ala) n.684T>G n.670T>G | |
1 | g.100912227C>A | CA341171317 | SLC30A7 | c.500C>A (p.Ser167Tyr) c.290C>A (p.Ser97Tyr) n.685C>A n.671C>A | |
1 | g.100912227C>G | CA341171320 | SLC30A7 | c.500C>G (p.Ser167Cys) c.290C>G (p.Ser97Cys) n.685C>G n.671C>G | COSMIC |
1 | g.100912227C>T | CA341171324 | SLC30A7 | c.500C>T (p.Ser167Phe) c.290C>T (p.Ser97Phe) n.685C>T n.671C>T | |
1 | g.100912228T>A | CA419203528 | SLC30A7 | c.501T>A (p.Ser167=) c.291T>A (p.Ser97=) n.686T>A n.672T>A | |
1 | g.100912228T>C | CA419203529 | SLC30A7 | c.501T>C (p.Ser167=) c.291T>C (p.Ser97=) n.686T>C n.672T>C | |
1 | g.100912228T>G | CA972091 | SLC30A7 | c.501T>G (p.Ser167=) c.291T>G (p.Ser97=) n.686T>G n.672T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.100912228T= | CA1184348272 | SLC30A7 | c.501T= (p.Ser167=) c.291T= (p.Ser97=) n.686T= n.672T= | |
1 | g.100912229C>A | CA341171328 | SLC30A7 | c.502C>A (p.His168Asn) c.292C>A (p.His98Asn) n.687C>A n.673C>A | |
1 | g.100912229C= | CA1184348274 | SLC30A7 | c.502C= (p.His168=) c.292C= (p.His98=) n.687C= n.673C= | |
1 | g.100912229C>G | CA341171331 | SLC30A7 | c.502C>G (p.His168Asp) c.292C>G (p.His98Asp) n.687C>G n.673C>G | |
1 | g.100912229C>T | CA27686113 | SLC30A7 | c.502C>T (p.His168Tyr) c.292C>T (p.His98Tyr) n.687C>T n.673C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.100912230A= | CA1148444008 | SLC30A7 | c.503A= (p.His168=) c.293A= (p.His98=) n.688A= n.674A= | |
1 | g.100912230A>C | CA341171335 | SLC30A7 | c.503A>C (p.His168Pro) c.293A>C (p.His98Pro) n.688A>C n.674A>C | |
1 | g.100912230A>G | CA972092 | SLC30A7 | c.503A>G (p.His168Arg) c.293A>G (p.His98Arg) n.688A>G n.674A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |