Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42693023G>A | CA411810305 | A4GALT,CYB5R3 | c.-49+27774C>T (n.-49+27774C>T) c.929C>T (p.Ala310Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693023G>C | CA411810307 | A4GALT,CYB5R3 | c.-49+27774C>G (n.-49+27774C>G) c.929C>G (p.Ala310Gly) | |
22 | g.42693023G= | CA2406870078 | A4GALT,CYB5R3 | c.-49+27774C= (n.-49+27774C=) c.929C= (p.Ala310=) | |
22 | g.42693023G>T | CA411810308 | A4GALT,CYB5R3 | c.-49+27774C>A (n.-49+27774C>A) c.929C>A (p.Ala310Asp) | gnomAD v4 |
22 | g.42693024C>A | CA411810312 | A4GALT,CYB5R3 | c.-49+27773G>T (n.-49+27773G>T) c.928G>T (p.Ala310Ser) | |
22 | g.42693024C= | CA2406870079 | A4GALT,CYB5R3 | c.-49+27773G= (n.-49+27773G=) c.928G= (p.Ala310=) | |
22 | g.42693024C>G | CA411810314 | A4GALT,CYB5R3 | c.-49+27773G>C (n.-49+27773G>C) c.928G>C (p.Ala310Pro) | |
22 | g.42693024C>T | CA411810317 | A4GALT,CYB5R3 | c.-49+27773G>A (n.-49+27773G>A) c.928G>A (p.Ala310Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693025A>C | CA411810319 | A4GALT,CYB5R3 | c.-49+27772T>G (n.-49+27772T>G) c.927T>G (p.Ser309Arg) | gnomAD v4 |
22 | g.42693025A>G | CA515070524 | A4GALT,CYB5R3 | c.-49+27772T>C (n.-49+27772T>C) c.927T>C (p.Ser309=) | gnomAD v4 |
22 | g.42693025A>T | CA411810320 | A4GALT,CYB5R3 | c.-49+27772T>A (n.-49+27772T>A) c.927T>A (p.Ser309Arg) | |
22 | g.42693026C>A | CA411810323 | A4GALT,CYB5R3 | c.-49+27771G>T (n.-49+27771G>T) c.926G>T (p.Ser309Ile) | |
22 | g.42693026C= | CA2406870080 | A4GALT,CYB5R3 | c.-49+27771G= (n.-49+27771G=) c.926G= (p.Ser309=) | |
22 | g.42693026C>G | CA411810324 | A4GALT,CYB5R3 | c.-49+27771G>C (n.-49+27771G>C) c.926G>C (p.Ser309Thr) | dbSNP gnomAD v4 COSMIC |
22 | g.42693026C>T | CA411810326 | A4GALT,CYB5R3 | c.-49+27771G>A (n.-49+27771G>A) c.926G>A (p.Ser309Asn) | gnomAD v4 |
22 | g.42693027T>A | CA411810330 | A4GALT,CYB5R3 | c.-49+27770A>T (n.-49+27770A>T) c.925A>T (p.Ser309Cys) | |
22 | g.42693027T>C | CA411810335 | A4GALT,CYB5R3 | c.-49+27770A>G (n.-49+27770A>G) c.925A>G (p.Ser309Gly) | |
22 | g.42693027T>G | CA411810332 | A4GALT,CYB5R3 | c.-49+27770A>C (n.-49+27770A>C) c.925A>C (p.Ser309Arg) | |
22 | g.42693028G>A | CA515070525 | A4GALT,CYB5R3 | c.-49+27769C>T (n.-49+27769C>T) c.924C>T (p.Leu308=) | gnomAD v4 COSMIC |
22 | g.42693028G>C | CA515070526 | A4GALT,CYB5R3 | c.-49+27769C>G (n.-49+27769C>G) c.924C>G (p.Leu308=) | |
22 | g.42693028G>T | CA515070527 | A4GALT,CYB5R3 | c.-49+27769C>A (n.-49+27769C>A) c.924C>A (p.Leu308=) | |
22 | g.42693029A= | CA2406870081 | A4GALT,CYB5R3 | c.-49+27768T= (n.-49+27768T=) c.923T= (p.Leu308=) | |
22 | g.42693029A>C | CA411810338 | A4GALT,CYB5R3 | c.-49+27768T>G (n.-49+27768T>G) c.923T>G (p.Leu308Arg) | |
22 | g.42693029A>G | CA411810341 | A4GALT,CYB5R3 | c.-49+27768T>C (n.-49+27768T>C) c.923T>C (p.Leu308Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.42693029A>T | CA411810342 | A4GALT,CYB5R3 | c.-49+27768T>A (n.-49+27768T>A) c.923T>A (p.Leu308His) | |
22 | g.42693030G>A | CA411810343 | A4GALT,CYB5R3 | c.-49+27767C>T (n.-49+27767C>T) c.922C>T (p.Leu308Phe) | |
22 | g.42693030G>C | CA411810344 | A4GALT,CYB5R3 | c.-49+27767C>G (n.-49+27767C>G) c.922C>G (p.Leu308Val) | |
22 | g.42693030G>T | CA411810345 | A4GALT,CYB5R3 | c.-49+27767C>A (n.-49+27767C>A) c.922C>A (p.Leu308Ile) | |
22 | g.42693031C>A | CA515070528 | A4GALT,CYB5R3 | c.-49+27766G>T (n.-49+27766G>T) c.921G>T (p.Leu307=) | |
22 | g.42693031C>G | CA515070529 | A4GALT,CYB5R3 | c.-49+27766G>C (n.-49+27766G>C) c.921G>C (p.Leu307=) | gnomAD v4 |
22 | g.42693031C>T | CA515070530 | A4GALT,CYB5R3 | c.-49+27766G>A (n.-49+27766G>A) c.921G>A (p.Leu307=) | gnomAD v4 |
22 | g.42693032A= | CA2406870082 | A4GALT,CYB5R3 | c.-49+27765T= (n.-49+27765T=) c.920T= (p.Leu307=) | |
22 | g.42693032A>C | CA411810346 | A4GALT,CYB5R3 | c.-49+27765T>G (n.-49+27765T>G) c.920T>G (p.Leu307Arg) | |
22 | g.42693032A>G | CA10270182 | A4GALT,CYB5R3 | c.-49+27765T>C (n.-49+27765T>C) c.920T>C (p.Leu307Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693032A>T | CA411810347 | A4GALT,CYB5R3 | c.-49+27765T>A (n.-49+27765T>A) c.920T>A (p.Leu307Gln) | |
22 | g.42693033G>A | CA515070531 | A4GALT,CYB5R3 | c.-49+27764C>T (n.-49+27764C>T) c.919C>T (p.Leu307=) | |
22 | g.42693033G>C | CA411810348 | A4GALT,CYB5R3 | c.-49+27764C>G (n.-49+27764C>G) c.919C>G (p.Leu307Val) | |
22 | g.42693033G>T | CA411810349 | A4GALT,CYB5R3 | c.-49+27764C>A (n.-49+27764C>A) c.919C>A (p.Leu307Met) | |
22 | g.42693034C>A | CA515070532 | A4GALT,CYB5R3 | c.-49+27763G>T (n.-49+27763G>T) c.918G>T (p.Arg306=) | |
22 | g.42693034C= | CA2406870083 | A4GALT,CYB5R3 | c.-49+27763G= (n.-49+27763G=) c.918G= (p.Arg306=) | |
22 | g.42693034C>G | CA515070533 | A4GALT,CYB5R3 | c.-49+27763G>C (n.-49+27763G>C) c.918G>C (p.Arg306=) | |
22 | g.42693034C>T | CA515070534 | A4GALT,CYB5R3 | c.-49+27763G>A (n.-49+27763G>A) c.918G>A (p.Arg306=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.42693035C>A | CA411810350 | A4GALT,CYB5R3 | c.-49+27762G>T (n.-49+27762G>T) c.917G>T (p.Arg306Leu) | |
22 | g.42693035C= | CA2406870084 | A4GALT,CYB5R3 | c.-49+27762G= (n.-49+27762G=) c.917G= (p.Arg306=) | |
22 | g.42693035C>G | CA411810351 | A4GALT,CYB5R3 | c.-49+27762G>C (n.-49+27762G>C) c.917G>C (p.Arg306Pro) | |
22 | g.42693035C>T | CA411810352 | A4GALT,CYB5R3 | c.-49+27762G>A (n.-49+27762G>A) c.917G>A (p.Arg306Gln) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.42693036G>A | CA10270183 | A4GALT,CYB5R3 | c.-49+27761C>T (n.-49+27761C>T) c.916C>T (p.Arg306Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693036G>C | CA411810353 | A4GALT,CYB5R3 | c.-49+27761C>G (n.-49+27761C>G) c.916C>G (p.Arg306Gly) | |
22 | g.42693036G= | CA2406870085 | A4GALT,CYB5R3 | c.-49+27761C= (n.-49+27761C=) c.916C= (p.Arg306=) | |
22 | g.42693036G>T | CA515070535 | A4GALT,CYB5R3 | c.-49+27761C>A (n.-49+27761C>A) c.916C>A (p.Arg306=) |