Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.59272365A>C | CA402586450 | RAX | c.539T>G (p.Val180Gly) c.289+553T>G (n.289+553T>G) | |
18 | g.59272365A>G | CA402586451 | RAX | c.539T>C (p.Val180Ala) c.289+553T>C (n.289+553T>C) | |
18 | g.59272365A>T | CA402586452 | RAX | c.539T>A (p.Val180Asp) c.289+553T>A (n.289+553T>A) | |
18 | g.59272366C>A | CA402586453 | RAX | c.538G>T (p.Val180Phe) c.289+552G>T (n.289+552G>T) | |
18 | g.59272366C>G | CA402586454 | RAX | c.538G>C (p.Val180Leu) c.289+552G>C (n.289+552G>C) | ClinVar |
18 | g.59272366C>T | CA402586455 | RAX | c.538G>A (p.Val180Ile) c.289+552G>A (n.289+552G>A) | |
18 | g.59272367C>A | CA504059295 | RAX | c.537G>T (p.Arg179=) c.289+551G>T (n.289+551G>T) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.59272367C= | CA2306832374 | RAX | c.537G= (p.Arg179=) c.289+551G= (n.289+551G=) | |
18 | g.59272367C>G | CA504059296 | RAX | c.537G>C (p.Arg179=) c.289+551G>C (n.289+551G>C) | |
18 | g.59272367C>T | CA8979323 | RAX | c.537G>A (p.Arg179=) c.289+551G>A (n.289+551G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.59272368C>A | CA402586456 | RAX | c.536G>T (p.Arg179Leu) c.289+550G>T (n.289+550G>T) | gnomAD v4 |
18 | g.59272368C= | CA2306832375 | RAX | c.536G= (p.Arg179=) c.289+550G= (n.289+550G=) | |
18 | g.59272368C>G | CA402586457 | RAX | c.536G>C (p.Arg179Pro) c.289+550G>C (n.289+550G>C) | |
18 | g.59272368C>T | CA402586458 | RAX | c.536G>A (p.Arg179Gln) c.289+550G>A (n.289+550G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.59272369G>A | CA300984442 | RAX | c.535C>T (p.Arg179Trp) c.289+549C>T (n.289+549C>T) | dbSNP |
18 | g.59272369G>C | CA402586459 | RAX | c.535C>G (p.Arg179Gly) c.289+549C>G (n.289+549C>G) | gnomAD v4 |
18 | g.59272369G= | CA2306832376 | RAX | c.535C= (p.Arg179=) c.289+549C= (n.289+549C=) | |
18 | g.59272369G>T | CA504059303 | RAX | c.535C>A (p.Arg179=) c.289+549C>A (n.289+549C>A) | |
18 | g.59272370G>A | CA504059307 | RAX | c.534C>T (p.Val178=) c.289+548C>T (n.289+548C>T) | |
18 | g.59272370G>C | CA504059309 | RAX | c.534C>G (p.Val178=) c.289+548C>G (n.289+548C>G) | |
18 | g.59272370G>T | CA504059311 | RAX | c.534C>A (p.Val178=) c.289+548C>A (n.289+548C>A) | |
18 | g.59272371A>C | CA402586460 | RAX | c.533T>G (p.Val178Gly) c.289+547T>G (n.289+547T>G) | |
18 | g.59272371A>G | CA402586461 | RAX | c.533T>C (p.Val178Ala) c.289+547T>C (n.289+547T>C) | |
18 | g.59272371A>T | CA402586462 | RAX | c.533T>A (p.Val178Asp) c.289+547T>A (n.289+547T>A) | |
18 | g.59272372C>A | CA402586463 | RAX | c.532G>T (p.Val178Phe) c.289+546G>T (n.289+546G>T) | |
18 | g.59272372C>G | CA402586464 | RAX | c.532G>C (p.Val178Leu) c.289+546G>C (n.289+546G>C) | |
18 | g.59272372C>T | CA402586465 | RAX | c.532G>A (p.Val178Ile) c.289+546G>A (n.289+546G>A) | |
18 | g.59272373C>A | CA402586466 | RAX | c.531G>T (p.Glu177Asp) c.289+545G>T (n.289+545G>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.59272373C= | CA2306832377 | RAX | c.531G= (p.Glu177=) c.289+545G= (n.289+545G=) | |
18 | g.59272373C>G | CA402586467 | RAX | c.531G>C (p.Glu177Asp) c.289+545G>C (n.289+545G>C) | |
18 | g.59272373C>T | CA504059322 | RAX | c.531G>A (p.Glu177=) c.289+545G>A (n.289+545G>A) | |
18 | g.59272374T>A | CA402586468 | RAX | c.530A>T (p.Glu177Val) c.289+544A>T (n.289+544A>T) | |
18 | g.59272374T>C | CA8979324 | RAX | c.530A>G (p.Glu177Gly) c.289+544A>G (n.289+544A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.59272374T>G | CA402586469 | RAX | c.530A>C (p.Glu177Ala) c.289+544A>C (n.289+544A>C) | gnomAD v4 |
18 | g.59272374T= | CA2306832378 | RAX | c.530A= (p.Glu177=) c.289+544A= (n.289+544A=) | |
18 | g.59272375C>A | CA402586472 | RAX | c.529G>T (p.Glu177Ter) c.289+543G>T (n.289+543G>T) | |
18 | g.59272375C>G | CA402586471 | RAX | c.529G>C (p.Glu177Gln) c.289+543G>C (n.289+543G>C) | gnomAD v4 |
18 | g.59272375C>T | CA402586470 | RAX | c.529G>A (p.Glu177Lys) c.289+543G>A (n.289+543G>A) | |
18 | g.59272376T>A | CA504059331 | RAX | c.528A>T (p.Pro176=) c.289+542A>T (n.289+542A>T) | |
18 | g.59272376T>C | CA504059332 | RAX | c.528A>G (p.Pro176=) c.289+542A>G (n.289+542A>G) | |
18 | g.59272376T>G | CA504059334 | RAX | c.528A>C (p.Pro176=) c.289+542A>C (n.289+542A>C) | |
18 | g.59272377G>A | CA402586473 | RAX | c.527C>T (p.Pro176Leu) c.289+541C>T (n.289+541C>T) | |
18 | g.59272377G>C | CA402586475 | RAX | c.527C>G (p.Pro176Arg) c.289+541C>G (n.289+541C>G) | |
18 | g.59272377G>T | CA402586474 | RAX | c.527C>A (p.Pro176Gln) c.289+541C>A (n.289+541C>A) | |
18 | g.59272378G>A | CA402586476 | RAX | c.526C>T (p.Pro176Ser) c.289+540C>T (n.289+540C>T) | |
18 | g.59272378G>C | CA402586477 | RAX | c.526C>G (p.Pro176Ala) c.289+540C>G (n.289+540C>G) | |
18 | g.59272378G>T | CA402586478 | RAX | c.526C>A (p.Pro176Thr) c.289+540C>A (n.289+540C>A) | |
18 | g.59272379T>A | CA504059343 | RAX | c.525A>T (p.Leu175=) c.289+539A>T (n.289+539A>T) | |
18 | g.59272379T>C | CA504059344 | RAX | c.525A>G (p.Leu175=) c.289+539A>G (n.289+539A>G) | |
18 | g.59272379T>G | CA8979325 | RAX | c.525A>C (p.Leu175=) c.289+539A>C (n.289+539A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |