Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.6868113C>A | CA414966452 | AMELY | c.497G>T (p.Arg166Leu) c.539G>T (p.Arg180Leu) | |
Y | g.6868113C= | CA2469903207 | AMELY | c.497G= (p.Arg166=) c.539G= (p.Arg180=) | |
Y | g.6868113C>G | CA414966456 | AMELY | c.497G>C (p.Arg166Pro) c.539G>C (p.Arg180Pro) | |
Y | g.6868113C>T | CA10571912 | AMELY | c.497G>A (p.Arg166Gln) c.539G>A (p.Arg180Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.6868114G>A | CA10571913 | AMELY | c.496C>T (p.Arg166Trp) c.538C>T (p.Arg180Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.6868114G>C | CA414966458 | AMELY | c.496C>G (p.Arg166Gly) c.538C>G (p.Arg180Gly) | |
Y | g.6868114G= | CA2469903208 | AMELY | c.496C= (p.Arg166=) c.538C= (p.Arg180=) | |
Y | g.6868114G>T | CA519496233 | AMELY | c.496C>A (p.Arg166=) c.538C>A (p.Arg180=) | |
Y | g.6868115C>A | CA519496235 | AMELY | c.495G>T (p.Leu165=) c.537G>T (p.Leu179=) | |
Y | g.6868115C>G | CA519496237 | AMELY | c.495G>C (p.Leu165=) c.537G>C (p.Leu179=) | |
Y | g.6868115C>T | CA519496242 | AMELY | c.495G>A (p.Leu165=) c.537G>A (p.Leu179=) | |
Y | g.6868116A>C | CA414966461 | AMELY | c.494T>G (p.Leu165Arg) c.536T>G (p.Leu179Arg) | |
Y | g.6868116A>G | CA414966462 | AMELY | c.494T>C (p.Leu165Pro) c.536T>C (p.Leu179Pro) | |
Y | g.6868116A>T | CA414966460 | AMELY | c.494T>A (p.Leu165Gln) c.536T>A (p.Leu179Gln) | |
Y | g.6868117G>A | CA519496248 | AMELY | c.493C>T (p.Leu165=) c.535C>T (p.Leu179=) | |
Y | g.6868117G>C | CA414966467 | AMELY | c.493C>G (p.Leu165Val) c.535C>G (p.Leu179Val) | |
Y | g.6868117G>T | CA414966465 | AMELY | c.493C>A (p.Leu165Met) c.535C>A (p.Leu179Met) | |
Y | g.6868118G>A | CA519496249 | AMELY | c.492C>T (p.Pro164=) c.534C>T (p.Pro178=) | |
Y | g.6868118G>C | CA519496251 | AMELY | c.492C>G (p.Pro164=) c.534C>G (p.Pro178=) | |
Y | g.6868118G>T | CA519496253 | AMELY | c.492C>A (p.Pro164=) c.534C>A (p.Pro178=) | |
Y | g.6868119G>A | CA414966469 | AMELY | c.491C>T (p.Pro164Leu) c.533C>T (p.Pro178Leu) | |
Y | g.6868119G>C | CA414966471 | AMELY | c.491C>G (p.Pro164Arg) c.533C>G (p.Pro178Arg) | |
Y | g.6868119G>T | CA414966474 | AMELY | c.491C>A (p.Pro164His) c.533C>A (p.Pro178His) | |
Y | g.6868120G>A | CA414966478 | AMELY | c.490C>T (p.Pro164Ser) c.532C>T (p.Pro178Ser) | |
Y | g.6868120G>C | CA414966480 | AMELY | c.490C>G (p.Pro164Ala) c.532C>G (p.Pro178Ala) | |
Y | g.6868120G>T | CA414966481 | AMELY | c.490C>A (p.Pro164Thr) c.532C>A (p.Pro178Thr) | |
Y | g.6868121G>A | CA519496261 | AMELY | c.489C>T (p.Phe163=) c.531C>T (p.Phe177=) | |
Y | g.6868121G>C | CA414966484 | AMELY | c.489C>G (p.Phe163Leu) c.531C>G (p.Phe177Leu) | |
Y | g.6868121G>T | CA414966486 | AMELY | c.489C>A (p.Phe163Leu) c.531C>A (p.Phe177Leu) | |
Y | g.6868122A>C | CA414966489 | AMELY | c.488T>G (p.Phe163Cys) c.530T>G (p.Phe177Cys) | |
Y | g.6868122A>G | CA414966491 | AMELY | c.488T>C (p.Phe163Ser) c.530T>C (p.Phe177Ser) | |
Y | g.6868122A>T | CA414966494 | AMELY | c.488T>A (p.Phe163Tyr) c.530T>A (p.Phe177Tyr) | |
Y | g.6868123A>C | CA414966497 | AMELY | c.487T>G (p.Phe163Val) c.529T>G (p.Phe177Val) | |
Y | g.6868123A>G | CA414966503 | AMELY | c.487T>C (p.Phe163Leu) c.529T>C (p.Phe177Leu) | |
Y | g.6868123A>T | CA414966498 | AMELY | c.487T>A (p.Phe163Ile) c.529T>A (p.Phe177Ile) | |
Y | g.6868124C>A | CA414966505 | AMELY | c.486G>T (p.Met162Ile) c.528G>T (p.Met176Ile) | |
Y | g.6868124C>G | CA414966513 | AMELY | c.486G>C (p.Met162Ile) c.528G>C (p.Met176Ile) | |
Y | g.6868124C>T | CA414966515 | AMELY | c.486G>A (p.Met162Ile) c.528G>A (p.Met176Ile) | |
Y | g.6868125A>C | CA414966518 | AMELY | c.485T>G (p.Met162Arg) c.527T>G (p.Met176Arg) | |
Y | g.6868125A>G | CA414966520 | AMELY | c.485T>C (p.Met162Thr) c.527T>C (p.Met176Thr) | |
Y | g.6868125A>T | CA414966522 | AMELY | c.485T>A (p.Met162Lys) c.527T>A (p.Met176Lys) | COSMIC COSMIC |
Y | g.6868126T>A | CA414966523 | AMELY | c.484A>T (p.Met162Leu) c.526A>T (p.Met176Leu) | |
Y | g.6868126T>C | CA414966524 | AMELY | c.484A>G (p.Met162Val) c.526A>G (p.Met176Val) | |
Y | g.6868126T>G | CA414966526 | AMELY | c.484A>C (p.Met162Leu) c.526A>C (p.Met176Leu) | |
Y | g.6868127T>A | CA519496290 | AMELY | c.483A>T (p.Pro161=) c.525A>T (p.Pro175=) | |
Y | g.6868127T>C | CA519496289 | AMELY | c.483A>G (p.Pro161=) c.525A>G (p.Pro175=) | |
Y | g.6868127T>G | CA519496288 | AMELY | c.483A>C (p.Pro161=) c.525A>C (p.Pro175=) | |
Y | g.6868128G>A | CA414966533 | AMELY | c.482C>T (p.Pro161Leu) c.524C>T (p.Pro175Leu) | |
Y | g.6868128G>C | CA414966535 | AMELY | c.482C>G (p.Pro161Arg) c.524C>G (p.Pro175Arg) | |
Y | g.6868128G>T | CA414966529 | AMELY | c.482C>A (p.Pro161Gln) c.524C>A (p.Pro175Gln) |